ClinVar Miner

List of variants studied for autoimmune disease

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6052
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HGVS dbSNP gnomAD frequency
NM_000639.3(FASLG):c.452-28T>C rs2639653 0.99043
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_006254.4(PRKCD):c.1857T>C (p.Pro619=) rs900495 0.94337
NM_006254.4(PRKCD):c.1782C>G (p.Thr594=) rs1075865 0.93819
NM_001715.3(BLK):c.176-104G>A rs6994605 0.90656
NM_015474.4(SAMHD1):c.208+158A>G rs6030389 0.90232
NC_000021.9:g.44285777T>C rs751032 0.90117
NM_006254.4(PRKCD):c.1441C>T (p.Leu481=) rs2306574 0.75510
NM_006254.4(PRKCD):c.1743+29T>G rs7630600 0.74353
NM_002296.4(LBR):c.461G>A (p.Ser154Asn) rs2230419 0.72194
NM_000043.6(FAS):c.642T>C (p.Thr214=) rs2234978 0.72086
NM_001372051.1(CASP8):c.1305-19A>G rs3769818 0.71850
NM_002296.4(LBR):c.117G>A (p.Val39=) rs1056607 0.71598
NM_002296.4(LBR):c.261T>C (p.Pro87=) rs1056608 0.68333
NM_139276.3(STAT3):c.1233+43C>G rs2293152 0.66160
NM_006254.4(PRKCD):c.115+21C>G rs2306571 0.65337
NM_001228.5(CASP8):c.-26-8189A>G rs3769823 0.64497
NM_012387.3(PADI4):c.349T>C (p.Leu117=) rs1748033 0.63756
NM_033629.6(TREX1):c.531T>C (p.Tyr177=) rs11797 0.62991
NM_000207.3(INS):c.*22A>C rs3842753 0.59307
NM_016382.4(CD244):c.834+526A>G rs3766379 0.57260
NM_007365.3(PADI2):c.1159-39G>A rs2057094 0.56206
NM_012387.3(PADI4):c.245T>C (p.Val82Ala) rs11203367 0.55848
NM_001715.3(BLK):c.-1-105C>G rs12386974 0.55690
NM_001372051.1(CASP8):c.*122G>C rs3185378 0.55328
NM_012387.3(PADI4):c.163G>A (p.Gly55Ser) rs11203366 0.55047
NM_012387.3(PADI4):c.341-15T>C rs2240340 0.54446
NM_007365.3(PADI2):c.92+1006C>A rs1005753 0.54320
NM_001141945.3(ACTA2):c.-24+733T>C rs1800682 0.54268
NM_000383.4(AIRE):c.995+109A>G rs1078480 0.49492
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49415
NC_000001.11:g.172658358C>T rs763110 0.49239
NM_032977.4(CASP10):c.177A>G (p.Ser59=) rs3900115 0.49172
NM_001715.3(BLK):c.330T>C (p.Ser110=) rs3816668 0.49161
NM_001098629.3(IRF5):c.-12+198= rs1432329681 0.47453
NM_000246.3(CIITA):c.-286G= rs3087456 0.47237
NM_001370466.1(NOD2):c.*397A>C rs3135499 0.45667
NM_001370466.1(NOD2):c.*1156G>A rs3135500 0.44678
NM_005223.4(DNASE1):c.731G>A (p.Arg244Gln) rs1053874 0.44356
NM_015474.4(SAMHD1):c.276-105C>A rs6030312 0.44115
NM_001715.3(BLK):c.*176C>T rs1042689 0.42891
NM_032977.4(CASP10):c.1564T>A (p.Leu522Ile) rs13006529 0.42733
NM_001715.3(BLK):c.-1-53G>A rs2245250 0.41844
NM_001715.3(BLK):c.1313-28C>T rs10097015 0.41687
NM_001715.3(BLK):c.123+88G>T rs2245232 0.41611
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) rs231775 0.39951
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_001715.3(BLK):c.1030-38C>T rs4841561 0.38972
NM_001144962.2(NFKBIL1):c.-13+590T>A rs2071592 0.37279
NM_130384.3(ATRIP):c.*1632= rs11797 0.37009
NM_005214.5(CTLA4):c.*1148+236G>A rs3087243 0.36123
NM_001370466.1(NOD2):c.453C>G (p.Ser151=) rs2067085 0.35090
NM_001715.3(BLK):c.*428G>A rs1042701 0.34826
NM_001372051.1(CASP8):c.*845T>A rs13113 0.33069
NM_001370466.1(NOD2):c.1680T>G (p.Arg560=) rs1861759 0.32445
NM_000383.4(AIRE):c.1096-288G>A rs933150 0.30258
NM_006254.4(PRKCD):c.1119G>A (p.Glu373=) rs2230494 0.29106
NM_007365.3(PADI2):c.729T>G (p.Gly243=) rs2076615 0.26663
NM_007315.4(STAT1):c.1874-8C>T rs2066804 0.22007
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_001370466.1(NOD2):c.-8-2303G>A rs2076752 0.21018
NM_001394477.1(FCGR2B):c.695T>C (p.Ile232Thr) rs1050501 0.19240
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.18036
NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser) rs2066842 0.17968
NM_001370466.1(NOD2):c.1296C>T (p.Arg432=) rs2066843 0.17266
NM_000043.6(FAS):c.*1084C>T rs1468063 0.16498
NC_000002.12:g.203866796C>T rs16840252 0.16493
NM_000594.3(TNF):c.-488G>A rs1800629 0.14163
NM_001372051.1(CASP8):c.*83G>A rs17860428 0.13714
NM_001372051.1(CASP8):c.*175C>T rs2141331 0.12768
NM_001378687.1(ATP2C1):c.2598G>A (p.Lys866=) rs16835513 0.12740
NM_032977.3(CASP10):c.-206C>T rs16836789 0.12450
NM_006254.4(PRKCD):c.180T>C (p.Asp60=) rs2230493 0.12323
NM_032977.4(CASP10):c.*285G>A rs3851974 0.11086
NM_032977.4(CASP10):c.*277G>A rs3931696 0.11064
NM_006254.4(PRKCD):c.1260+19G>A rs41275531 0.10858
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_001372051.1(CASP8):c.*464T>C rs1045494 0.09887
NM_001372051.1(CASP8):c.960G>A (p.Lys320=) rs1045487 0.09873
NM_000043.6(FAS):c.*565A>T rs1051070 0.07031
NM_032977.4(CASP10):c.923-3C>T rs6753900 0.06908
NM_003059.3(SLC22A4):c.393+6607C>T rs3792876 0.06888
NM_015967.8(PTPN22):c.1858= (p.Trp620=) rs2476601 0.06839
NC_000002.12:g.203867624C>T rs5742909 0.06759
NM_032977.4(CASP10):c.*1920G>C rs11885191 0.06626
NM_032977.3(CASP10):c.-360T>C rs41429849 0.06590
NM_007315.4(STAT1):c.63T>C (p.Leu21=) rs2066802 0.06562
NM_032977.4(CASP10):c.*2757A>G rs13414860 0.06432
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_001372051.1(CASP8):c.*99G>A rs13425383 0.05700
NM_080628.3(TLDC2):c.*18-559G>A rs8124728 0.05345
NM_000639.3(FASLG):c.*612T>A rs868507856 0.05258
NM_000639.3(FASLG):c.147G>A (p.Pro49=) rs61756244 0.05080
NM_001378687.1(ATP2C1):c.6+15C>G rs112703671 0.05056
NM_000383.4(AIRE):c.1203T>C (p.Pro401=) rs61737072 0.05045
NM_001715.3(BLK):c.*92G>C rs14053 0.04621
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) rs13010627 0.04350
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945 0.04049
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619 0.03995
NM_000043.6(FAS):c.222A>G (p.Thr74=) rs2229521 0.03925
NM_000043.6(FAS):c.*765T>C rs9658776 0.03922
NM_001141945.3(ACTA2):c.-24+157C>T rs2274355 0.03855
NM_001372051.1(CASP8):c.*429A>G rs17860433 0.03449
NM_032977.4(CASP10):c.*815C>T rs17860409 0.03348
NM_032977.4(CASP10):c.685-20C>T rs17860401 0.03338
NM_001378687.1(ATP2C1):c.636G>A (p.Ser212=) rs6810181 0.03154
NM_006254.4(PRKCD):c.1926G>A (p.Ala642=) rs56338517 0.03080
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_032977.4(CASP10):c.1337A>G (p.Tyr446Cys) rs17860405 0.02926
NM_000043.6(FAS):c.-34A>G rs5030766 0.02841
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_001372051.1(CASP8):c.*411G>C rs17860432 0.02398
NM_000043.6(FAS):c.*142A>G rs9658774 0.02166
NM_000043.6(FAS):c.141G>A (p.Gln47=) rs3218621 0.02156
NM_005223.4(DNASE1):c.379G>A (p.Gly127Arg) rs8176919 0.02101
NM_001715.3(BLK):c.258G>A (p.Gln86=) rs56185487 0.02041
NM_001715.3(BLK):c.435C>T (p.Ala145=) rs7836533 0.01672
NM_000383.4(AIRE):c.1096-9G>C rs113512196 0.01593
NM_007315.4(STAT1):c.634-16C>T rs45479293 0.01475
NM_001370466.1(NOD2):c.2381+10A>C rs72796353 0.01447
NM_014009.4(FOXP3):c.648-20G>A rs2232368 0.01436
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_032977.4(CASP10):c.*367G>C rs41365346 0.01382
NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly) rs5743278 0.01319
NM_002296.4(LBR):c.843A>G (p.Val281=) rs61749339 0.01280
NM_000383.4(AIRE):c.652+14C>T rs41277546 0.01242
NM_001370466.1(NOD2):c.*521C>T rs5743297 0.01203
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_017935.5(BANK1):c.120G>C (p.Trp40Cys) rs35978636 0.01146
NM_014382.4(ATP2C1):c.*1820A>G rs72628536 0.01112
NM_000043.6(FAS):c.505+16C>T rs3218620 0.01048
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615 0.01042
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_001378687.1(ATP2C1):c.1348G>A (p.Ala450Thr) rs41434650 0.01025
NM_001372051.1(CASP8):c.*60C>T rs13425113 0.00993
NM_001715.3(BLK):c.177C>G (p.Asp59Glu) rs146083915 0.00891
NM_001370466.1(NOD2):c.1752C>T (p.Ala584=) rs61736932 0.00840
NM_000383.4(AIRE):c.1279-18C>T rs72650678 0.00839
NM_001370466.1(NOD2):c.460-3T>C rs141833420 0.00836
NM_001370466.1(NOD2):c.-8-2340del rs5743265 0.00779
NM_000043.6(FAS):c.365C>T (p.Thr122Ile) rs3218614 0.00774
NM_001378687.1(ATP2C1):c.*686G>A rs150024961 0.00771
NM_032977.4(CASP10):c.*3513A>G rs6752492 0.00762
NM_005214.5(CTLA4):c.75G>C (p.Leu25=) rs16840275 0.00761
NM_000304.4(PMP22):c.396C>T (p.Tyr132=) rs74361095 0.00743
NM_001715.3(BLK):c.102C>T (p.Asp34=) rs75383960 0.00743
NM_006254.4(PRKCD):c.741C>T (p.Cys247=) rs55709737 0.00741
NM_001370466.1(NOD2):c.337G>A (p.Ala113Thr) rs34684955 0.00726
NM_001372051.1(CASP8):c.*71G>A rs41309822 0.00687
NM_001370466.1(NOD2):c.2042G>A (p.Arg681His) rs35285618 0.00681
NM_001715.3(BLK):c.472+12G>A rs145058498 0.00652
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944 0.00613
NM_000043.6(FAS):c.183G>A (p.Lys61=) rs3218613 0.00606
NM_032977.4(CASP10):c.*2689A>G rs41447745 0.00601
NM_007315.4(STAT1):c.1097+10C>G rs41488044 0.00594
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu) rs11910214 0.00580
NM_001228.5(CASP8):c.-143T>G rs34609836 0.00568
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser) rs5743271 0.00557
NM_006254.4(PRKCD):c.214G>C (p.Val72Leu) rs151061939 0.00535
NM_032977.4(CASP10):c.*2831C>T rs151162733 0.00535
NM_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318 0.00529
NM_080628.3(TLDC2):c.*18-218T>C rs114791229 0.00502
NM_007315.4(STAT1):c.1314A>G (p.Gln438=) rs138091660 0.00495
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943 0.00490
NM_032977.4(CASP10):c.*2289A>C rs41369551 0.00488
NM_001378687.1(ATP2C1):c.1623G>C (p.Leu541Phe) rs61731516 0.00466
NM_032977.4(CASP10):c.*1471G>A rs192319559 0.00466
NM_080628.3(TLDC2):c.*28T>C rs45595032 0.00466
NM_007315.4(STAT1):c.2136T>G (p.Val712=) rs35364817 0.00465
NM_032977.4(CASP10):c.*665G>A rs142072849 0.00456
NM_032977.4(CASP10):c.*77T>G rs191438878 0.00455
NM_032977.4(CASP10):c.1068G>T (p.Leu356=) rs111489269 0.00455
NM_000383.4(AIRE):c.1401-11C>T rs371136111 0.00444
NM_001141945.3(ACTA2):c.-24+357C>T rs9658677 0.00433
NM_006254.4(PRKCD):c.1554+8G>A rs141412493 0.00429
NM_001372051.1(CASP8):c.306-1918T>C rs11897628 0.00421
NM_032977.4(CASP10):c.*3137G>C rs41522046 0.00417
NM_001715.3(BLK):c.753A>G (p.Gln251=) rs76563369 0.00416
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046 0.00411
NM_080628.3(TLDC2):c.*18-938G>C rs116489517 0.00406
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061 0.00404
NM_001370466.1(NOD2):c.2466-11G>T rs5743285 0.00402
NM_080628.3(TLDC2):c.*43G>A rs115645414 0.00402
NM_001370466.1(NOD2):c.974A>G (p.His325Arg) rs5743272 0.00389
NM_032977.4(CASP10):c.*2618G>A rs41431151 0.00382
NM_001378687.1(ATP2C1):c.1683C>T (p.Ala561=) rs114319700 0.00372
NM_001372051.1(CASP8):c.*166G>C rs35474602 0.00369
NM_000639.3(FASLG):c.*606T>A rs74124375 0.00364
NM_001370466.1(NOD2):c.735C>T (p.Ser245=) rs35090774 0.00360
NM_000639.3(FASLG):c.*608T>A rs867998396 0.00352
NM_007315.4(STAT1):c.2019A>G (p.Lys673=) rs35098579 0.00351
NM_001141945.3(ACTA2):c.-24+409G>A rs56220100 0.00346
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) rs5743277 0.00340
NM_007315.4(STAT1):c.633+6T>A rs45459703 0.00335
NM_001378687.1(ATP2C1):c.117+7G>A rs41266501 0.00334
NM_032977.4(CASP10):c.*1043C>T rs553212718 0.00334
NM_007315.4(STAT1):c.463-8G>C rs2066794 0.00329
NM_000043.6(FAS):c.550A>G (p.Ile184Val) rs28362322 0.00324
NM_001372051.1(CASP8):c.339C>T (p.Ser113=) rs17860422 0.00309
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_032977.4(CASP10):c.*1593T>C rs564618271 0.00307
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu) rs80358239 0.00307
NM_000383.4(AIRE):c.1116G>A (p.Ser372=) rs61737006 0.00304
NM_000383.4(AIRE):c.1400+10C>T rs372277949 0.00304
NM_001715.3(BLK):c.187G>A (p.Val63Met) rs138972988 0.00302
NM_001715.3(BLK):c.713G>A (p.Arg238Gln) rs141865425 0.00300
NM_032977.4(CASP10):c.1296C>T (p.Ala432=) rs41331850 0.00298
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) rs61755182 0.00291
NM_007315.4(STAT1):c.1155G>A (p.Thr385=) rs41270237 0.00280
NM_007315.4(STAT1):c.1347+8T>G rs16833147 0.00274
NM_032977.4(CASP10):c.1415+18T>A rs111608359 0.00274
NM_001370466.1(NOD2):c.1188G>T (p.Val396=) rs77966199 0.00273
NM_007315.4(STAT1):c.990G>A (p.Gln330=) rs41509946 0.00272
NM_001079.4(ZAP70):c.1082+8C>T rs55933862 0.00271
NM_006254.4(PRKCD):c.1260+6C>T rs180706867 0.00270
NM_032977.4(CASP10):c.*1793C>A rs114760847 0.00258
NM_001370466.1(NOD2):c.*873C>T rs373812846 0.00255
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777 0.00252
NM_007315.4(STAT1):c.796G>A (p.Val266Ile) rs41473544 0.00251
NM_032977.4(CASP10):c.*1955G>A rs139807893 0.00249
NM_032977.4(CASP10):c.*3071G>A rs41339144 0.00247
NM_014009.4(FOXP3):c.324G>A (p.Thr108=) rs111856931 0.00245
NM_080628.3(TLDC2):c.*18-170C>T rs143588093 0.00244
NM_000383.4(AIRE):c.1507G>A (p.Asp503Asn) rs145370269 0.00241
NM_001372051.1(CASP8):c.655T>A (p.Ser219Thr) rs35976359 0.00241
NM_001378687.1(ATP2C1):c.*1545A>G rs372789446 0.00237
NM_001378687.1(ATP2C1):c.*998C>T rs116671177 0.00231
NM_001370466.1(NOD2):c.*620G>A rs116213743 0.00230
NM_080628.3(TLDC2):c.*18-1G>T rs138927042 0.00229
NM_032977.4(CASP10):c.534A>C (p.Val178=) rs146233833 0.00226
NM_007315.4(STAT1):c.1257G>A (p.Thr419=) rs73979321 0.00224
NM_007315.4(STAT1):c.793A>G (p.Ile265Val) rs148775168 0.00223
NM_000383.4(AIRE):c.1296G>A (p.Ala432=) rs144359012 0.00222
NM_001715.3(BLK):c.116C>T (p.Pro39Leu) rs142352008 0.00222
NM_000383.4(AIRE):c.880-18G>A rs139659079 0.00213
NM_000383.4(AIRE):c.1199C>T (p.Pro400Leu) rs142366324 0.00212
NM_000639.3(FASLG):c.451+7A>G rs201525996 0.00210
NM_001370466.1(NOD2):c.*990T>C rs192842874 0.00208
NM_000383.4(AIRE):c.1566+8C>T rs72650680 0.00206
NM_014009.4(FOXP3):c.648-13T>A rs190739204 0.00201
NM_015474.3(SAMHD1):c.-166G>T rs546207604 0.00197
NM_032977.4(CASP10):c.*1688A>G rs41515650 0.00191
NM_000383.4(AIRE):c.1065C>T (p.Pro355=) rs201551372 0.00188
NM_015474.3(SAMHD1):c.-110T>C rs28372906 0.00188
NM_004944.4(DNASE1L3):c.705-3C>T rs186823038 0.00187
NM_000572.3(IL10):c.43G>A (p.Gly15Arg) rs145922845 0.00186
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_001370466.1(NOD2):c.*89C>T rs184545855 0.00183
NM_001372051.1(CASP8):c.*316C>T rs35419671 0.00178
NM_000383.4(AIRE):c.63C>T (p.Ala21=) rs371796437 0.00176
NM_004944.4(DNASE1L3):c.543G>A (p.Ala181=) rs61730077 0.00175
NM_001715.3(BLK):c.711C>T (p.Pro237=) rs143699141 0.00174
NM_001807.6(CEL):c.1966G>C (p.Ala656Pro) rs587780309 0.00172
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001370466.1(NOD2):c.-8-2302T>C rs139485985 0.00167
NM_014009.4(FOXP3):c.210+16C>T rs372471440 0.00165
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_000639.3(FASLG):c.*817A>G rs45442301 0.00162
NM_000383.4(AIRE):c.1567-5C>T rs192215705 0.00158
NM_001370466.1(NOD2):c.2325G>T (p.Val775=) rs104895495 0.00157
NM_001372051.1(CASP8):c.803-2986C>G rs372086843 0.00157
NM_000246.4(CIITA):c.358+11G>A rs118033640 0.00155
NM_001370466.1(NOD2):c.800C>G (p.Thr267Ser) rs104895425 0.00152
NM_014009.4(FOXP3):c.176C>G (p.Ser59Cys) rs199917616 0.00151
NM_000639.3(FASLG):c.*406G>T rs138658215 0.00150
NM_007315.4(STAT1):c.1098-17A>G rs182094949 0.00140
NM_080628.3(TLDC2):c.*18-435A>T rs747128919 0.00139
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464 0.00137
NM_000043.6(FAS):c.33T>A (p.Val11=) rs113022949 0.00135
NM_007315.4(STAT1):c.1222-5T>C rs191364028 0.00135
NM_000639.3(FASLG):c.*600G>T rs886045574 0.00133
NM_000043.6(FAS):c.*436C>T rs143388574 0.00132
NM_007315.4(STAT1):c.2238+17G>T rs115758905 0.00132
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln) rs114664276 0.00131
NM_001370466.1(NOD2):c.2296G>A (p.Val766Met) rs104895444 0.00127
NM_000044.6(AR):c.1937C>A (p.Ala646Asp) rs1800053 0.00123
NM_001372051.1(CASP8):c.*107C>T rs184368293 0.00123
NM_032977.4(CASP10):c.722-16G>T rs41500646 0.00121
NM_001370466.1(NOD2):c.2886-16G>C rs199525467 0.00118
NM_000043.6(FAS):c.*638T>C rs192032778 0.00117
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=) rs147366495 0.00117
NM_000383.4(AIRE):c.1083C>T (p.Pro361=) rs201010030 0.00115
NM_004944.4(DNASE1L3):c.501G>A (p.Glu167=) rs149185668 0.00114
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000383.4(AIRE):c.510A>G (p.Ala170=) rs146992760 0.00113
NM_000383.4(AIRE):c.717C>T (p.Ser239=) rs149130190 0.00110
NM_006254.4(PRKCD):c.603C>T (p.Ile201=) rs75794462 0.00108
NM_014382.4(ATP2C1):c.*1839A>G rs141516276 0.00108
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_001372051.1(CASP8):c.*755G>A rs145519245 0.00106
NM_001378687.1(ATP2C1):c.1840-12G>A rs201666095 0.00106
NM_007315.4(STAT1):c.354C>T (p.Asn118=) rs45463799 0.00106
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_005214.5(CTLA4):c.*375G>A rs13384548 0.00105
NM_006254.4(PRKCD):c.1415+19C>T rs202080219 0.00105
NM_032977.4(CASP10):c.*480A>G rs539196058 0.00104
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu) rs104895431 0.00103
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_000383.4(AIRE):c.789C>T (p.Gly263=) rs138066507 0.00099
NM_000383.4(AIRE):c.901G>A (p.Val301Met) rs150634562 0.00092
NM_001370466.1(NOD2):c.-8-7T>A rs104895421 0.00092
NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu) rs148939095 0.00091
NM_001370466.1(NOD2):c.552C>T (p.Ala184=) rs5743269 0.00090
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_000639.3(FASLG):c.426G>C (p.Glu142Asp) rs138441486 0.00088
NM_001370466.1(NOD2):c.1707G>A (p.Thr569=) rs104895437 0.00086
NM_000043.6(FAS):c.103T>C (p.Leu35=) rs9333296 0.00083
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=) rs138996307 0.00081
NM_001372051.1(CASP8):c.1304+12C>T rs375465590 0.00081
NM_000383.4(AIRE):c.1215G>A (p.Pro405=) rs72650676 0.00078
NM_006254.4(PRKCD):c.315+9C>A rs200076653 0.00078
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 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_001370466.1(NOD2):c.2506A>G (p.Met836Val) rs104895447 0.00073
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser) rs72556555 0.00073
NM_000246.4(CIITA):c.413T>C (p.Val138Ala) rs142469968 0.00072
NM_000043.6(FAS):c.*1333G>T rs9658779 0.00071
NM_007315.4(STAT1):c.1872C>T (p.Gly624=) rs2230101 0.00070
NM_032977.4(CASP10):c.*1914C>T rs185318287 0.00070
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_000383.4(AIRE):c.447G>A (p.Arg149=) rs374704178 0.00069
NM_000383.4(AIRE):c.1118C>T (p.Ala373Val) rs79212994 0.00068
NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn) rs146054564 0.00068
NM_000383.4(AIRE):c.1383C>T (p.Ala461=) rs147485628 0.00066
NM_000383.4(AIRE):c.348G>A (p.Pro116=) rs74162060 0.00066
NM_007315.4(STAT1):c.1127+9C>T rs201370851 0.00066
NM_007315.4(STAT1):c.274-13C>G rs45565836 0.00065
NM_001372051.1(CASP8):c.892A>G (p.Ile298Val) rs146286958 0.00064
NM_001378687.1(ATP2C1):c.1570+9A>G rs199864073 0.00064
NM_006254.4(PRKCD):c.1043A>G (p.Asn348Ser) rs33911937 0.00064
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp) rs35891605 0.00063
NM_000043.6(FAS):c.*1203G>A rs190060976 0.00062
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_000383.4(AIRE):c.1503+16G>A rs565087801 0.00058
NM_006254.4(PRKCD):c.539+13C>T rs200442846 0.00058
NM_032977.4(CASP10):c.1415+16T>C rs201336330 0.00058
NM_001370466.1(NOD2):c.1330C>T (p.Arg444Cys) rs1078327 0.00057
NM_001370466.1(NOD2):c.-8-2174C>T rs149122717 0.00056
NM_007315.4(STAT1):c.1263+7G>A rs56228116 0.00056
NM_032977.4(CASP10):c.347+8C>T rs140246829 0.00056
NM_001370466.1(NOD2):c.2057G>A (p.Arg686His) rs104895483 0.00055
NM_006254.4(PRKCD):c.1705C>T (p.Arg569Cys) rs141992569 0.00055
NM_014009.4(FOXP3):c.155G>T (p.Gly52Val) rs17847095 0.00055
NM_000246.4(CIITA):c.*125C>T rs548867769 0.00054
NM_000383.4(AIRE):c.1476C>T (p.Pro492=) rs72650679 0.00054
NM_000639.3(FASLG):c.108G>A (p.Val36=) rs140595317 0.00054
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_007315.4(STAT1):c.1727+12C>T rs201733976 0.00053
NM_000246.4(CIITA):c.*465G>A rs190253856 0.00052
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_001370466.1(NOD2):c.850C>T (p.Arg284Trp) rs104895427 0.00051
NM_001372051.1(CASP8):c.789A>G (p.Thr263=) rs35142591 0.00051
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser) rs113107733 0.00051
NM_000246.4(CIITA):c.931A>G (p.Met311Val) rs140139362 0.00050
NM_006254.4(PRKCD):c.1362C>T (p.Ala454=) rs41295962 0.00050
NM_007315.4(STAT1):c.634-13C>T rs200380549 0.00050
NM_000246.4(CIITA):c.286G>A (p.Ala96Thr) rs149253747 0.00049
NM_000639.3(FASLG):c.*754G>A rs55779656 0.00049
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile) rs187264529 0.00048
NM_007315.4(STAT1):c.1591G>A (p.Ala531Thr) rs148573907 0.00048
NM_000383.4(AIRE):c.1567-18C>T rs372108131 0.00047
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) rs112741962 0.00047
NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser) rs147874812 0.00046
NM_006254.4(PRKCD):c.1500C>T (p.Phe500=) rs149751382 0.00046
NM_022162.2(NOD2):c.241C>G (p.Leu81Val) rs34936594 0.00046
NM_032977.4(CASP10):c.*3613C>T rs774470649 0.00046
NM_001378687.1(ATP2C1):c.585T>C (p.Cys195=) rs2760272 0.00045
NM_032977.4(CASP10):c.*1624T>C rs150841386 0.00044
NM_032977.4(CASP10):c.*2590G>C rs74267227 0.00044
NM_006254.4(PRKCD):c.1415+7G>C rs78905675 0.00043
NM_032977.4(CASP10):c.*3420C>T rs536711035 0.00043
NM_001370466.1(NOD2):c.1464G>T (p.Leu488=) rs553575063 0.00042
NM_007315.4(STAT1):c.1098-11T>A rs369780737 0.00042
NM_007315.4(STAT1):c.722G>A (p.Arg241Gln) rs146273341 0.00042
NM_000383.4(AIRE):c.1437G>A (p.Val479=) rs181029582 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_002296.4(LBR):c.1315-13T>C rs201793983 0.00041
NM_006254.4(PRKCD):c.68C>T (p.Ala23Val) rs144572650 0.00041
NM_006254.4(PRKCD):c.787+14C>T rs376532118 0.00041
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112 0.00041
NM_006254.4(PRKCD):c.1213G>A (p.Ala405Thr) rs150331740 0.00040
NM_000383.4(AIRE):c.1279-19G>A rs369136366 0.00039
NM_001370466.1(NOD2):c.-8-2232G>C rs140977130 0.00039
NM_001370466.1(NOD2):c.2490C>T (p.Asp830=) rs144083291 0.00039
NM_000043.6(FAS):c.505+14T>G rs76988052 0.00038
NM_000639.3(FASLG):c.395-15C>G rs370579312 0.00038
NM_006254.4(PRKCD):c.1743+8C>T rs182290450 0.00038
NM_015474.4(SAMHD1):c.-31T>C rs142162198 0.00038
NM_015474.4(SAMHD1):c.-39C>A rs368233437 0.00038
NM_032977.4(CASP10):c.*136A>G rs747374452 0.00038
NM_080628.3(TLDC2):c.*18-25A>G rs147220022 0.00038
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu) rs140196414 0.00036
NM_001079.4(ZAP70):c.1645A>G (p.Met549Val) rs150950017 0.00036
NM_006254.4(PRKCD):c.1244G>A (p.Cys415Tyr) rs35181307 0.00036
NM_000383.4(AIRE):c.521G>A (p.Arg174His) rs145732243 0.00035
NM_000545.8(HNF1A):c.1501+6C>T rs374306837 0.00035
NM_001370466.1(NOD2):c.2886-11T>G rs200519856 0.00035
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000639.3(FASLG):c.174G>A (p.Pro58=) rs372411796 0.00034
NM_000639.3(FASLG):c.364C>A (p.His122Asn) rs140406512 0.00034
NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys) rs104895432 0.00034
NM_001715.3(BLK):c.879C>T (p.His293=) rs142623841 0.00034
NM_032977.4(CASP10):c.-8+5G>A rs781551128 0.00034
NM_033629.6(TREX1):c.183G>A (p.Pro61=) rs55852466 0.00034
NM_000639.3(FASLG):c.280T>G (p.Leu94Val) rs56302117 0.00033
NM_032977.4(CASP10):c.1202_1208del (p.Cys401fs) rs747900630 0.00033
NM_000043.6(FAS):c.*978C>T rs181225729 0.00032
NM_000383.4(AIRE):c.457A>G (p.Ser153Gly) rs200377867 0.00032
NM_001370466.1(NOD2):c.-8-2297C>T rs188341692 0.00032
NM_001370466.1(NOD2):c.1096C>T (p.Arg366Cys) rs140716236 0.00032
NM_001370466.1(NOD2):c.1969C>T (p.Arg657Trp) rs5743276 0.00032
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) rs143007898 0.00031
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg) rs373993732 0.00031
NM_001370466.1(NOD2):c.*877C>A rs140643942 0.00031
NM_001370466.1(NOD2):c.2295C>T (p.Pro765=) rs5743280 0.00031
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000639.3(FASLG):c.*725A>G rs542205727 0.00030
NM_000639.3(FASLG):c.259T>C (p.Phe87Leu) rs530390117 0.00030
NM_006254.4(PRKCD):c.1691C>T (p.Thr564Met) rs146289210 0.00030
NM_007315.4(STAT1):c.1116T>C (p.Asn372=) rs55891000 0.00030
NM_007315.4(STAT1):c.1127+10G>A rs140665796 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513 0.00029
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn) rs138790505 0.00029
NM_000383.4(AIRE):c.133-11C>A rs372109674 0.00029
NM_000639.3(FASLG):c.796C>T (p.Leu266=) rs35178418 0.00029
NM_001370466.1(NOD2):c.*462C>A rs562972090 0.00029
NM_006254.4(PRKCD):c.395G>A (p.Arg132His) rs200939049 0.00029
NM_015474.4(SAMHD1):c.334G>A (p.Val112Ile) rs144353824 0.00029
NM_000043.6(FAS):c.958A>G (p.Ser320Gly) rs146209060 0.00028
NM_000383.4(AIRE):c.982C>T (p.Arg328Trp) rs74162063 0.00028
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_001370466.1(NOD2):c.2100G>A (p.Pro700=) rs144468550 0.00028
NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe) rs756943416 0.00027
NM_002693.3(POLG):c.391T>C (p.Tyr131His) rs562847013 0.00027
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856 0.00026
NM_000383.4(AIRE):c.996-7C>T rs568895777 0.00026
NM_000639.3(FASLG):c.360G>C (p.Gln120His) rs372615226 0.00026
NM_000639.3(FASLG):c.828C>T (p.Phe276=) rs144105303 0.00026
NM_001370466.1(NOD2):c.*382C>T rs535063121 0.00026
NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg) rs104895423 0.00026
NM_001372051.1(CASP8):c.*314C>T rs906158329 0.00026
NM_014009.4(FOXP3):c.1044+17G>A rs11465478 0.00026
NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=) rs200856791 0.00026
NM_000383.4(AIRE):c.307+13G>A rs371890744 0.00025
NM_000383.4(AIRE):c.507C>T (p.Ser169=) rs566659101 0.00025
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_007315.4(STAT1):c.825G>A (p.Gln275=) rs61756197 0.00025
NM_032977.4(CASP10):c.683C>T (p.Pro228Leu) rs143882052 0.00025
NM_033629.6(TREX1):c.339G>A (p.Arg113=) rs56400532 0.00025
NM_000138.5(FBN1):c.*2360C>G rs144404153 0.00024
NM_000383.4(AIRE):c.1344C>T (p.His448=) rs201131119 0.00024
NM_000383.4(AIRE):c.1483C>T (p.Leu495=) rs376909088 0.00024
NM_000383.4(AIRE):c.793G>A (p.Ala265Thr) rs140835367 0.00024
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_001370466.1(NOD2):c.989A>C (p.Asp330Ala) rs104895469 0.00024
NM_004944.4(DNASE1L3):c.777A>G (p.Lys259=) rs138248740 0.00024
NM_007315.4(STAT1):c.1098-19A>G rs112684142 0.00024
NM_007315.4(STAT1):c.1248C>G (p.Gly416=) rs140787216 0.00024
NM_032977.4(CASP10):c.*739T>C rs559831804 0.00024
NM_000043.6(FAS):c.*582T>G rs542335688 0.00023
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn) rs146810389 0.00023
NM_001228.4(CASP8):c.-310A>G rs527497064 0.00023
NM_001370466.1(NOD2):c.2623C>A (p.Gln875Lys) rs201035873 0.00023
NM_014009.4(FOXP3):c.340C>T (p.Arg114Trp) rs200554980 0.00023
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946 0.00022
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg) rs148012328 0.00022
NM_000383.4(AIRE):c.912C>T (p.Asp304=) rs149769247 0.00022
NM_001370466.1(NOD2):c.1235G>A (p.Arg412His) rs143110172 0.00022
NM_001372051.1(CASP8):c.*812T>A rs538987233 0.00022
NM_032977.4(CASP10):c.953G>A (p.Gly318Glu) rs138931498 0.00022
NC_000001.11:g.172658929A>G rs895958192 0.00021
NM_000545.8(HNF1A):c.1386C>T (p.Val462=) rs143015301 0.00021
NM_001370466.1(NOD2):c.*1201T>A rs751525993 0.00021
NM_001370466.1(NOD2):c.*470C>T rs770461687 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_002296.4(LBR):c.1114C>T (p.Arg372Cys) rs200180113 0.00021
NM_004944.4(DNASE1L3):c.854G>A (p.Arg285Lys) rs151161986 0.00021
NM_005214.5(CTLA4):c.23G>A (p.Arg8Gln) rs138279736 0.00021
NM_005214.5(CTLA4):c.326G>A (p.Gly109Glu) rs144988077 0.00021
NM_005214.5(CTLA4):c.372G>A (p.Thr124=) rs372929906 0.00021
NM_006254.4(PRKCD):c.948C>T (p.Phe316=) rs138049008 0.00021
NM_032977.4(CASP10):c.1347T>C (p.Phe449=) rs147814983 0.00021
NM_000043.6(FAS):c.*84G>A rs754986111 0.00020
NM_000383.4(AIRE):c.169C>G (p.Gln57Glu) rs200955183 0.00020
NM_000383.4(AIRE):c.996-18T>C rs78245838 0.00020
NM_000545.8(HNF1A):c.1108-4G>A rs372892932 0.00020
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=) rs118028009 0.00020
NM_001370466.1(NOD2):c.192C>T (p.Thr64=) rs146923251 0.00020
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys) rs104895443 0.00020
NM_007315.4(STAT1):c.2060-11T>C rs192462536 0.00020
NM_032977.4(CASP10):c.853C>T (p.Leu285Phe) rs17860403 0.00020
NM_032977.4(CASP10):c.930G>T (p.Leu310=) rs149096064 0.00020
NM_000043.6(FAS):c.-10C>A rs200181814 0.00019
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182 0.00019
NM_000383.4(AIRE):c.538+6C>T rs371847563 0.00019
NM_000383.4(AIRE):c.538+7G>A rs575144370 0.00019
NM_001370466.1(NOD2):c.*1023C>T rs5743299 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_001372051.1(CASP8):c.443A>G (p.Lys148Arg) rs148697064 0.00019
NM_001378687.1(ATP2C1):c.2439A>G (p.Thr813=) rs576648874 0.00019
NM_005693.4(NR1H3):c.1244G>A (p.Arg415Gln) rs61731956 0.00019
NM_006254.4(PRKCD):c.1352+4C>T rs202155309 0.00019
NM_006254.4(PRKCD):c.377-12C>T rs181439333 0.00019
NM_007315.4(STAT1):c.1098-13del rs769691301 0.00019
NM_014009.4(FOXP3):c.874G>A (p.Val292Ile) rs74162067 0.00019
NM_000043.6(FAS):c.914C>T (p.Thr305Ile) rs3218611 0.00018
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) rs776625874 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg) rs147400498 0.00018
NM_001370466.1(NOD2):c.2066G>A (p.Arg689His) rs200035357 0.00018
NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu) rs201586544 0.00018
NM_001372051.1(CASP8):c.*124C>T rs886055432 0.00018
NM_005214.5(CTLA4):c.516G>A (p.Ser172=) rs375949600 0.00018
NM_014009.4(FOXP3):c.455-6C>T rs373767482 0.00018
NM_000383.4(AIRE):c.1244A>G (p.His415Arg) rs149609996 0.00017
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr) rs373857078 0.00017
NM_001370466.1(NOD2):c.2381+7G>T rs202111813 0.00017
NM_001372051.1(CASP8):c.432A>G (p.Ile144Met) rs149933993 0.00017
NM_004944.4(DNASE1L3):c.274C>T (p.Arg92Trp) rs141477807 0.00017
NM_004944.4(DNASE1L3):c.444C>T (p.Asp148=) rs370862010 0.00017
NM_139276.3(STAT3):c.2049C>T (p.Phe683=) rs373256669 0.00017
NM_000043.6(FAS):c.*1294A>T rs9658778 0.00016
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu) rs146469379 0.00016
NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp) rs376901046 0.00016
NM_000383.4(AIRE):c.137C>T (p.Thr46Met) rs758870962 0.00016
NM_000383.4(AIRE):c.180C>T (p.His60=) rs201591958 0.00016
NM_000383.4(AIRE):c.748A>T (p.Ser250Cys) rs141480813 0.00016
NM_000383.4(AIRE):c.908G>A (p.Arg303Gln) rs139808903 0.00016
NM_000639.3(FASLG):c.*3G>T rs200021473 0.00016
NM_001370466.1(NOD2):c.1522C>T (p.Leu508=) rs145190613 0.00016
NM_001370466.1(NOD2):c.1758C>T (p.Phe586=) rs149870902 0.00016
NM_001370466.1(NOD2):c.299C>T (p.Ser100Leu) rs146395646 0.00016
NM_001370466.1(NOD2):c.450G>A (p.Pro150=) rs775281342 0.00016
NM_001370466.1(NOD2):c.665A>G (p.Glu222Gly) rs117836686 0.00016
NM_001372051.1(CASP8):c.*98C>T rs36155452 0.00016
NM_001378687.1(ATP2C1):c.1146A>G (p.Gln382=) rs141822193 0.00016
NM_005214.5(CTLA4):c.457+12C>T rs368427057 0.00016
NM_005214.5(CTLA4):c.457+14T>C rs770198835 0.00016
NM_007315.4(STAT1):c.1728-4C>T rs760805208 0.00016
NM_000383.4(AIRE):c.1312G>A (p.Gly438Arg) rs553396434 0.00015
NM_000383.4(AIRE):c.594C>T (p.Asp198=) rs376083924 0.00015
NM_000383.4(AIRE):c.600G>A (p.Pro200=) rs754331960 0.00015
NM_000383.4(AIRE):c.936C>T (p.Asp312=) rs147889221 0.00015
NM_000545.8(HNF1A):c.-258A>G rs756136537 0.00015
NM_001370466.1(NOD2):c.46G>A (p.Glu16Lys) rs200089552 0.00015
NM_006254.4(PRKCD):c.372C>T (p.Asp124=) rs148137939 0.00015
NM_032977.4(CASP10):c.913A>G (p.Lys305Glu) rs149912574 0.00015
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met) rs370575495 0.00014
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp) rs191989961 0.00014
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu) rs377272529 0.00014
NM_000383.4(AIRE):c.1095+11G>A rs541854967 0.00014
NM_000383.4(AIRE):c.1104G>A (p.Pro368=) rs377079396 0.00014
NM_000383.4(AIRE):c.1477G>A (p.Ala493Thr) rs561652010 0.00014
NM_000383.4(AIRE):c.1567-17G>A rs376402964 0.00014
NM_000383.4(AIRE):c.880-7G>A rs141955483 0.00014
NM_001370466.1(NOD2):c.1118C>T (p.Pro373Leu) rs779346494 0.00014
NM_001370466.1(NOD2):c.1275C>T (p.Ile425=) rs186719861 0.00014
NM_001370466.1(NOD2):c.1710G>A (p.Ala570=) rs140312093 0.00014
NM_001370466.1(NOD2):c.2065C>T (p.Arg689Cys) rs776025574 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.2465+2dup rs748508924 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_001372051.1(CASP8):c.*686C>T rs1021711220 0.00014
NM_001378687.1(ATP2C1):c.*176T>C rs752881753 0.00014
NM_006254.4(PRKCD):c.658-5_658-2dup rs782574122 0.00014
NM_007315.4(STAT1):c.1363G>A (p.Val455Ile) rs371982540 0.00014
NM_007315.4(STAT1):c.1632+6G>A rs185216067 0.00014
NM_014009.4(FOXP3):c.112G>T (p.Ala38Ser) rs782239006 0.00014
NM_032977.4(CASP10):c.*230G>A rs565567149 0.00014
NM_032977.4(CASP10):c.1297G>A (p.Glu433Lys) rs200540853 0.00014
NM_000043.6(FAS):c.961G>A (p.Asp321Asn) rs137898188 0.00013
NM_000304.4(PMP22):c.-134G>A rs754758124 0.00013
NM_000639.3(FASLG):c.*54A>T rs550027918 0.00013
NM_001370466.1(NOD2):c.1888A>G (p.Ser630Gly) rs150236752 0.00013
NM_001370466.1(NOD2):c.1898C>G (p.Ala633Gly) rs111400183 0.00013
NM_001370466.1(NOD2):c.2718-19G>A rs202059016 0.00013
NM_001370466.1(NOD2):c.2781C>T (p.Asn927=) rs758223679 0.00013
NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys) rs104895422 0.00013
NM_004944.4(DNASE1L3):c.152G>A (p.Arg51His) rs372315713 0.00013
NM_006254.4(PRKCD):c.657+15G>A rs190144895 0.00013
NM_014009.4(FOXP3):c.249G>C (p.Gly83=) rs782210800 0.00013
NM_032977.4(CASP10):c.1415+8C>G rs200638628 0.00013
NM_032977.4(CASP10):c.259C>T (p.Arg87Trp) rs551818122 0.00013
NM_032977.4(CASP10):c.666A>G (p.Thr222=) rs116125703 0.00013
NM_000043.6(FAS):c.*70G>C rs80330323 0.00012
NM_000383.4(AIRE):c.560C>T (p.Ser187Leu) rs143952576 0.00012
NM_001370466.1(NOD2):c.1113C>T (p.Thr371=) rs5743273 0.00012
NM_001370466.1(NOD2):c.232G>A (p.Ala78Thr) rs113706344 0.00012
NM_006254.4(PRKCD):c.899G>A (p.Arg300Gln) rs143488209 0.00012
NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys) rs142393072 0.00012
NM_032977.4(CASP10):c.789T>C (p.Thr263=) rs532602601 0.00012
NM_032977.4(CASP10):c.797C>T (p.Ser266Phe) rs148554420 0.00012
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) rs370504038 0.00012
NM_000043.6(FAS):c.956C>T (p.Thr319Ile) rs372459755 0.00011
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000383.4(AIRE):c.1158C>T (p.Ala386=) rs199555518 0.00011
NM_000383.4(AIRE):c.1200G>A (p.Pro400=) rs377627680 0.00011
NM_000383.4(AIRE):c.1235C>T (p.Ser412Leu) rs368331265 0.00011
NM_000383.4(AIRE):c.1236G>A (p.Ser412=) rs373985995 0.00011
NM_000383.4(AIRE):c.1394G>A (p.Arg465Gln) rs139835427 0.00011
NM_000383.4(AIRE):c.354C>G (p.Val118=) rs528667089 0.00011
NM_000383.4(AIRE):c.372G>A (p.Pro124=) rs775117249 0.00011
NM_000383.4(AIRE):c.705G>A (p.Lys235=) rs145255118 0.00011
NM_000383.4(AIRE):c.825G>C (p.Gln275His) rs1027582142 0.00011
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn) rs752219487 0.00011
NM_001370466.1(NOD2):c.-8-2243T>C rs765406921 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_001370466.1(NOD2):c.2840C>T (p.Ser947Phe) rs200463498 0.00011
NM_001370466.1(NOD2):c.45C>T (p.Val15=) rs766815592 0.00011
NM_001370466.1(NOD2):c.565+15T>C rs765487015 0.00011
NM_001372051.1(CASP8):c.*591T>C rs187758494 0.00011
NM_001378687.1(ATP2C1):c.*1609A>C rs771461939 0.00011
NM_001378687.1(ATP2C1):c.2057+7T>A rs368071107 0.00011
NM_004944.4(DNASE1L3):c.437T>C (p.Val146Ala) rs201928908 0.00011
NM_006254.4(PRKCD):c.1167C>T (p.Asp389=) rs781931484 0.00011
NM_006254.4(PRKCD):c.1260+7G>A rs374605708 0.00011
NM_006254.4(PRKCD):c.1928G>A (p.Arg643His) rs369041593 0.00011
NM_007315.4(STAT1):c.1059G>A (p.Glu353=) rs371279547 0.00011
NM_007315.4(STAT1):c.274-4C>G rs377209172 0.00011
NM_014009.4(FOXP3):c.1278C>A (p.Asn426Lys) rs369332983 0.00011
NM_014009.4(FOXP3):c.551C>T (p.Ser184Leu) rs140222626 0.00011
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=) rs202024857 0.00011
NM_015474.4(SAMHD1):c.697-11A>G rs200458478 0.00011
NM_032977.4(CASP10):c.*3488G>A rs773594343 0.00011
NM_032977.4(CASP10):c.1452C>T (p.Asn484=) rs375762220 0.00011
NM_032977.4(CASP10):c.271C>T (p.Leu91=) rs148026756 0.00011
NM_032977.4(CASP10):c.347+10G>T rs377184631 0.00011
NM_032977.4(CASP10):c.922+5G>A rs559244194 0.00011
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00011
NM_033629.6(TREX1):c.120C>T (p.His40=) rs758622317 0.00011
NM_139276.3(STAT3):c.2228G>T (p.Gly743Val) rs151033214 0.00011
NM_000043.6(FAS):c.*853C>T rs770098016 0.00010
NM_000383.4(AIRE):c.1115C>T (p.Ser372Leu) rs202237214 0.00010
NM_000383.4(AIRE):c.1450G>A (p.Val484Met) rs367966318 0.00010
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) rs193922417 0.00010
NM_000383.4(AIRE):c.520C>T (p.Arg174Cys) rs752687905 0.00010
NM_000383.4(AIRE):c.538G>A (p.Gly180Arg) rs200899780 0.00010
NM_000383.4(AIRE):c.927C>G (p.Ile309Met) rs74162062 0.00010
NM_000639.3(FASLG):c.466A>G (p.Arg156Gly) rs80358238 0.00010
NM_001039396.2(MPEG1):c.661C>A (p.Leu221Ile) rs763186541 0.00010
NM_001370466.1(NOD2):c.1608C>T (p.Tyr536=) rs111608429 0.00010
NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu) rs104895489 0.00010
NM_001370466.1(NOD2):c.233C>T (p.Ala78Val) rs202052365 0.00010
NM_001370466.1(NOD2):c.234G>A (p.Ala78=) rs104895419 0.00010
NM_001370466.1(NOD2):c.32G>T (p.Arg11Met) rs104895487 0.00010
NM_001370466.1(NOD2):c.332G>A (p.Arg111Gln) rs104895456 0.00010
NM_001370466.1(NOD2):c.544C>T (p.Pro182Ser) rs143080077 0.00010
NM_001372051.1(CASP8):c.1182G>A (p.Pro394=) rs190041873 0.00010
NM_004944.4(DNASE1L3):c.577G>A (p.Gly193Ser) rs200457209 0.00010
NM_004944.4(DNASE1L3):c.671C>T (p.Thr224Met) rs769575190 0.00010
NM_006254.4(PRKCD):c.1554+13C>T rs551694897 0.00010
NM_007315.4(STAT1):c.1263+20G>T rs573738354 0.00010
NM_007315.4(STAT1):c.1341C>A (p.Asp447Glu) rs140351189 0.00010
NM_014009.4(FOXP3):c.30G>A (p.Ser10=) rs142994383 0.00010
NM_014009.4(FOXP3):c.624C>T (p.Phe208=) rs148215677 0.00010
NM_032977.4(CASP10):c.*1257G>A rs886055414 0.00010
NM_032977.4(CASP10):c.1537T>C (p.Phe513Leu) rs143632134 0.00010
NM_033629.6(TREX1):c.312G>C (p.Leu104=) rs56162833 0.00010
NM_033629.6(TREX1):c.843C>T (p.Ala281=) rs200719301 0.00010
NM_139276.3(STAT3):c.1233+19C>T rs764434579 0.00010
NM_000043.6(FAS):c.251C>T (p.Pro84Leu) rs778483787 0.00009
NM_000043.6(FAS):c.38C>T (p.Thr13Met) rs372880667 0.00009
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn) rs371377334 0.00009
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=) rs532737688 0.00009
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) rs369294972 0.00009
NM_000383.4(AIRE):c.1095+2T>C rs760280615 0.00009
NM_000383.4(AIRE):c.132+18C>T rs535317267 0.00009
NM_000383.4(AIRE):c.426G>A (p.Ala142=) rs748305262 0.00009
NM_000383.4(AIRE):c.485C>T (p.Pro162Leu) rs138949170 0.00009
NM_000383.4(AIRE):c.615C>T (p.Ala205=) rs143784684 0.00009
NM_000639.3(FASLG):c.177G>A (p.Pro59=) rs559795993 0.00009
NM_000639.3(FASLG):c.394+14C>T rs371078346 0.00009
NM_001370466.1(NOD2):c.*1013A>G rs549273021 0.00009
NM_001370466.1(NOD2):c.-7T>C rs371044393 0.00009
NM_001370466.1(NOD2):c.1943C>T (p.Ala648Val) rs138958152 0.00009
NM_001370466.1(NOD2):c.1965G>T (p.Leu655Phe) rs149002807 0.00009
NM_001370466.1(NOD2):c.2177G>A (p.Arg726Gln) rs774888496 0.00009
NM_001370466.1(NOD2):c.2979G>A (p.Gly993=) rs374689495 0.00009
NM_001370466.1(NOD2):c.590C>T (p.Ala197Val) rs375336137 0.00009
NM_001372051.1(CASP8):c.1266C>T (p.Ile422=) rs781707597 0.00009
NM_001372051.1(CASP8):c.357T>C (p.Ser119=) rs560858360 0.00009
NM_001378687.1(ATP2C1):c.593T>G (p.Val198Gly) rs764052498 0.00009
NM_004944.4(DNASE1L3):c.803C>G (p.Ala268Gly) rs113005222 0.00009
NM_005214.5(CTLA4):c.468G>A (p.Pro156=) rs200657280 0.00009
NM_006254.4(PRKCD):c.1470C>T (p.Ala490=) rs781875657 0.00009
NM_006254.4(PRKCD):c.1706G>A (p.Arg569His) rs138712106 0.00009
NM_006254.4(PRKCD):c.597A>G (p.Lys199=) rs74558112 0.00009
NM_006254.4(PRKCD):c.787+4C>T rs575167797 0.00009
NM_007315.4(STAT1):c.1582+9A>G rs1309616318 0.00009
NM_032977.4(CASP10):c.*1654C>T rs951660640 0.00009
NM_033629.6(TREX1):c.504C>G (p.Pro168=) rs747052975 0.00009
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) rs146524913 0.00009
NM_033629.6(TREX1):c.728C>G (p.Pro243Arg) rs776094274 0.00009
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715 0.00009
NM_080628.3(TLDC2):c.*18-292C>T rs886056646 0.00009
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=) rs144400069 0.00008
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu) rs201156527 0.00008
NM_000383.4(AIRE):c.1203_1278+28del rs1568929576 0.00008
NM_000383.4(AIRE):c.653-16C>T rs368374287 0.00008
NM_000639.3(FASLG):c.153G>A (p.Pro51=) rs147380045 0.00008
NM_000639.3(FASLG):c.204G>A (p.Leu68=) rs951438902 0.00008
NM_001370466.1(NOD2):c.1745T>G (p.Phe582Cys) rs777798807 0.00008
NM_001370466.1(NOD2):c.2290C>T (p.Arg764Trp) rs104895484 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_001370466.1(NOD2):c.494C>T (p.Ala165Val) rs149071116 0.00008
NM_001378687.1(ATP2C1):c.*1573G>A rs997233440 0.00008
NM_004944.4(DNASE1L3):c.433+15G>A rs376623875 0.00008
NM_006254.4(PRKCD):c.1299G>A (p.Gly433=) rs200890839 0.00008
NM_006254.4(PRKCD):c.1927C>T (p.Arg643Cys) rs778015441 0.00008
NM_007315.4(STAT1):c.1222-14T>G rs201698540 0.00008
NM_014009.4(FOXP3):c.647+19T>G rs371187277 0.00008
NM_014009.4(FOXP3):c.984G>A (p.Met328Ile) rs367860281 0.00008
NM_032977.4(CASP10):c.684+1G>A rs372539994 0.00008
NM_033629.6(TREX1):c.486G>A (p.Leu162=) rs55786737 0.00008
NM_000043.6(FAS):c.*174A>G rs776971935 0.00007
NM_000138.5(FBN1):c.*254C>T rs886051243 0.00007
NM_000138.5(FBN1):c.4582+3A>G rs777845323 0.00007
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile) rs142912485 0.00007
NM_000246.4(CIITA):c.307C>A (p.Gln103Lys) rs371519540 0.00007
NM_000383.4(AIRE):c.1094C>T (p.Pro365Leu) rs374475349 0.00007
NM_000383.4(AIRE):c.1095+10C>T rs372932833 0.00007
NM_000383.4(AIRE):c.1323G>A (p.Thr441=) rs201945690 0.00007
NM_000383.4(AIRE):c.564C>G (p.Val188=) rs201650973 0.00007
NM_000383.4(AIRE):c.652+15G>A rs760027964 0.00007
NM_000383.4(AIRE):c.652+7G>A rs373277723 0.00007
NM_000545.8(HNF1A):c.341G>A (p.Arg114His) rs139016696 0.00007
NM_001228.5(CASP8):c.-26-8118G>A rs376887804 0.00007
NM_001370466.1(NOD2):c.1097G>A (p.Arg366His) rs140918872 0.00007
NM_001370466.1(NOD2):c.1199C>T (p.Pro400Leu) rs766651775 0.00007
NM_001370466.1(NOD2):c.1528C>T (p.Pro510Ser) rs767197520 0.00007
NM_001370466.1(NOD2):c.1875G>A (p.Ser625=) rs141355588 0.00007
NM_001370466.1(NOD2):c.2734A>G (p.Ile912Val) rs201781416 0.00007
NM_001370466.1(NOD2):c.623G>A (p.Arg208His) rs201790577 0.00007
NM_001370466.1(NOD2):c.638A>G (p.Tyr213Cys) rs202190367 0.00007
NM_001370466.1(NOD2):c.839C>T (p.Thr280Met) rs191901394 0.00007
NM_001378687.1(ATP2C1):c.2589G>A (p.Pro863=) rs751186032 0.00007
NM_004944.4(DNASE1L3):c.231-9G>C rs188393900 0.00007
NM_004944.4(DNASE1L3):c.97G>A (p.Glu33Lys) rs201136542 0.00007
NM_005214.5(CTLA4):c.565A>G (p.Met189Val) rs199912925 0.00007
NM_005214.5(CTLA4):c.94C>T (p.Pro32Ser) rs369567630 0.00007
NM_006254.4(PRKCD):c.1341C>T (p.Leu447=) rs782659087 0.00007
NM_007315.4(STAT1):c.1127+4C>T rs372508550 0.00007
NM_007315.4(STAT1):c.1866C>T (p.Asn622=) rs112108750 0.00007
NM_007315.4(STAT1):c.186A>G (p.Ser62=) rs146158319 0.00007
NM_014009.4(FOXP3):c.1221C>T (p.Thr407=) rs373302430 0.00007
NM_014009.4(FOXP3):c.361C>T (p.His121Tyr) rs782640594 0.00007
NM_014009.4(FOXP3):c.659C>T (p.Ala220Val) rs2232369 0.00007
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln) rs775762131 0.00007
NM_033629.6(TREX1):c.651G>A (p.Arg217=) rs140199177 0.00007
NM_000043.6(FAS):c.*520T>C rs886047462 0.00006
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) rs201778577 0.00006
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr) rs376659156 0.00006
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) rs775543440 0.00006
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe) rs758725993 0.00006
NM_000138.5(FBN1):c.5672-15C>G rs776163620 0.00006
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg) rs193922233 0.00006
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser) rs536503540 0.00006
NM_000246.4(CIITA):c.1556C>T (p.Pro519Leu) rs141006925 0.00006
NM_000246.4(CIITA):c.3197G>A (p.Arg1066His) rs142072017 0.00006
NM_000383.4(AIRE):c.1103C>T (p.Pro368Leu) rs552129156 0.00006
NM_000383.4(AIRE):c.1168A>G (p.Thr390Ala) rs771790456 0.00006
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met) rs201491251 0.00006
NM_000383.4(AIRE):c.1326C>T (p.Asp442=) rs750033525 0.00006
NM_000383.4(AIRE):c.1527C>T (p.Pro509=) rs746856788 0.00006
NM_000383.4(AIRE):c.166C>T (p.Pro56Ser) rs753460287 0.00006
NM_000383.4(AIRE):c.608G>A (p.Arg203Gln) rs200359179 0.00006
NM_000383.4(AIRE):c.718G>A (p.Gly240Ser) rs142286875 0.00006
NM_000383.4(AIRE):c.756G>A (p.Pro252=) rs765738882 0.00006
NM_000383.4(AIRE):c.798+1G>A rs138489664 0.00006
NM_000383.4(AIRE):c.819G>C (p.Leu273=) rs756188438 0.00006
NM_000545.8(HNF1A):c.1071G>A (p.Glu357=) rs376279459 0.00006
NM_000639.3(FASLG):c.173C>T (p.Pro58Leu) rs558758285 0.00006
NM_000639.3(FASLG):c.749A>G (p.Asn250Ser) rs376317481 0.00006
NM_001370466.1(NOD2):c.1203C>T (p.Ala401=) rs547826765 0.00006
NM_001370466.1(NOD2):c.1212G>T (p.Ser404=) rs145834617 0.00006
NM_001370466.1(NOD2):c.2497G>A (p.Ala833Thr) rs754270929 0.00006
NM_001370466.1(NOD2):c.2690G>A (p.Gly897Asp) rs104895453 0.00006
NM_001370466.1(NOD2):c.2693A>G (p.Asp898Gly) rs545734771 0.00006
NM_001370466.1(NOD2):c.2717+2T>A rs1309535620 0.00006
NM_001370466.1(NOD2):c.2886-9C>A rs554292255 0.00006
NM_001370466.1(NOD2):c.388T>C (p.Trp130Arg) rs104895420 0.00006
NM_001370466.1(NOD2):c.540A>T (p.Pro180=) rs377752699 0.00006
NM_001370466.1(NOD2):c.778C>T (p.His260Tyr) rs560242309 0.00006
NM_001372051.1(CASP8):c.159G>A (p.Met53Ile) rs200261147 0.00006
NM_001372051.1(CASP8):c.306-1928C>T rs534884641 0.00006
NM_001372051.1(CASP8):c.852C>T (p.His284=) rs138030956 0.00006
NM_001378687.1(ATP2C1):c.*1255G>A rs886057991 0.00006
NM_001378687.1(ATP2C1):c.782G>A (p.Ser261Asn) rs200665127 0.00006
NM_001715.3(BLK):c.1057C>T (p.Arg353Cys) rs199696853 0.00006
NM_004944.4(DNASE1L3):c.1A>T (p.Met1Leu) rs142482733 0.00006
NM_004944.4(DNASE1L3):c.801+17G>C rs373633551 0.00006
NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp) rs567899708 0.00006
NM_005214.5(CTLA4):c.257C>T (p.Ala86Val) rs376038796 0.00006
NM_005214.5(CTLA4):c.4G>T (p.Ala2Ser) rs767352102 0.00006
NM_006254.4(PRKCD):c.1212C>T (p.Ala404=) rs200149825 0.00006
NM_006254.4(PRKCD):c.1956C>T (p.Ile652=) rs147565728 0.00006
NM_006254.4(PRKCD):c.315+10G>A rs782548097 0.00006
NM_006254.4(PRKCD):c.636G>A (p.Ala212=) rs200410934 0.00006
NM_006254.4(PRKCD):c.945T>C (p.Gly315=) rs781846856 0.00006
NM_006254.4(PRKCD):c.961G>A (p.Gly321Arg) rs372047510 0.00006
NM_007315.4(STAT1):c.1090T>C (p.Phe364Leu) rs759722579 0.00006
NM_007315.4(STAT1):c.1437G>A (p.Ala479=) rs377513599 0.00006
NM_007315.4(STAT1):c.380C>T (p.Ser127Leu) rs768483703 0.00006
NM_007315.4(STAT1):c.542-3T>C rs377490932 0.00006
NM_014009.4(FOXP3):c.1147-13C>T rs782632308 0.00006
NM_014009.4(FOXP3):c.1241G>A (p.Arg414His) rs782786757 0.00006
NM_014009.4(FOXP3):c.825C>T (p.Ser275=) rs1405637345 0.00006
NM_015474.4(SAMHD1):c.-10A>G rs199721283 0.00006
NM_015474.4(SAMHD1):c.401G>A (p.Arg134Gln) rs767413799 0.00006
NM_032977.4(CASP10):c.*1038C>T rs886055412 0.00006
NM_032977.4(CASP10):c.*1366T>C rs886055415 0.00006
NM_032977.4(CASP10):c.1416-4G>C rs371589204 0.00006
NM_032977.4(CASP10):c.620C>T (p.Ser207Leu) rs770997816 0.00006
NM_032977.4(CASP10):c.715A>T (p.Ser239Cys) rs41473647 0.00006
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_033629.6(TREX1):c.168A>T (p.Thr56=) rs770441459 0.00006
NM_033629.6(TREX1):c.219G>A (p.Pro73=) rs778992418 0.00006
NM_033629.6(TREX1):c.337C>T (p.Arg113Trp) rs759594113 0.00006
NM_033629.6(TREX1):c.346C>G (p.Pro116Ala) rs761651331 0.00006
NM_080628.3(TLDC2):c.*18-50G>A rs188941712 0.00006
NM_000043.6(FAS):c.652-7T>C rs370323285 0.00005
NM_000043.6(FAS):c.667A>C (p.Asn223His) rs143318339 0.00005
NM_000138.5(FBN1):c.346+16C>T rs369090026 0.00005
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly) rs755085498 0.00005
NM_000138.5(FBN1):c.466A>C (p.Asn156His) rs746352371 0.00005
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser) rs193922245 0.00005
NM_000383.4(AIRE):c.1048C>T (p.Pro350Ser) rs554591629 0.00005
NM_000383.4(AIRE):c.1107G>T (p.Gly369=) rs767432975 0.00005
NM_000383.4(AIRE):c.1367G>A (p.Arg456His) rs554954634 0.00005
NM_000383.4(AIRE):c.1422C>T (p.Ser474=) rs760924817 0.00005
NM_000383.4(AIRE):c.156G>A (p.Lys52=) rs144396624 0.00005
NM_000383.4(AIRE):c.464-14G>T rs569160989 0.00005
NM_000639.3(FASLG):c.278C>T (p.Ala93Val) rs758796005 0.00005
NM_001079.4(ZAP70):c.988C>T (p.Leu330Phe) rs371574765 0.00005
NM_001370466.1(NOD2):c.-8-2238G>C rs976567823 0.00005
NM_001370466.1(NOD2):c.1037G>A (p.Arg346His) rs764176270 0.00005
NM_001370466.1(NOD2):c.1085C>T (p.Thr362Met) rs528926956 0.00005
NM_001370466.1(NOD2):c.1233C>A (p.Ile411=) rs773440974 0.00005
NM_001370466.1(NOD2):c.1308C>T (p.Pro436=) rs200656015 0.00005
NM_001370466.1(NOD2):c.1450A>G (p.Thr484Ala) rs759153904 0.00005
NM_001370466.1(NOD2):c.1546C>T (p.Arg516Cys) rs545580252 0.00005
NM_001370466.1(NOD2):c.1679G>A (p.Arg560His) rs373185098 0.00005
NM_001370466.1(NOD2):c.2160C>T (p.Tyr720=) rs751417475 0.00005
NM_001370466.1(NOD2):c.2287C>T (p.Arg763Trp) rs62029861 0.00005
NM_001370466.1(NOD2):c.2776A>G (p.Lys926Glu) rs375705174 0.00005
NM_001370466.1(NOD2):c.377T>G (p.Leu126Arg) rs867184583 0.00005
NM_001370466.1(NOD2):c.403G>A (p.Val135Ile) rs139571975 0.00005
NM_001370466.1(NOD2):c.789C>T (p.Asp263=) rs749180535 0.00005
NM_001370466.1(NOD2):c.78C>T (p.Phe26=) rs769855133 0.00005
NM_001370466.1(NOD2):c.869C>T (p.Ala290Val) rs199975570 0.00005
NM_001372051.1(CASP8):c.1086G>C (p.Gly362=) rs377204617 0.00005
NM_001372051.1(CASP8):c.1169C>T (p.Thr390Met) rs373673288 0.00005
NM_001372051.1(CASP8):c.1308C>T (p.Gly436=) rs777463099 0.00005
NM_001372051.1(CASP8):c.363G>A (p.Lys121=) rs773845990 0.00005
NM_001372051.1(CASP8):c.75G>A (p.Leu25=) rs748943405 0.00005
NM_001378687.1(ATP2C1):c.135T>C (p.Gly45=) rs753216597 0.00005
NM_001378687.1(ATP2C1):c.2067C>T (p.Ile689=) rs148190902 0.00005
NM_001378687.1(ATP2C1):c.635C>T (p.Ser212Leu) rs200427297 0.00005
NM_004944.4(DNASE1L3):c.151C>T (p.Arg51Cys) rs374713985 0.00005
NM_006254.4(PRKCD):c.1293C>T (p.Asn431=) rs377107086 0.00005
NM_006254.4(PRKCD):c.1692G>A (p.Thr564=) rs564128768 0.00005
NM_006254.4(PRKCD):c.267G>A (p.Ser89=) rs782214291 0.00005
NM_007315.4(STAT1):c.1582+7G>A rs762378892 0.00005
NM_007315.4(STAT1):c.1614G>A (p.Pro538=) rs373903728 0.00005
NM_007315.4(STAT1):c.172C>T (p.His58Tyr) rs751586208 0.00005
NM_014009.4(FOXP3):c.1149C>T (p.Asn383=) rs782267196 0.00005
NM_014009.4(FOXP3):c.1240C>T (p.Arg414Cys) rs781854593 0.00005
NM_014009.4(FOXP3):c.816+6C>T rs781919619 0.00005
NM_014009.4(FOXP3):c.873C>T (p.Val291=) rs782371089 0.00005
NM_032977.4(CASP10):c.*3835G>A rs536525827 0.00005
NM_032977.4(CASP10):c.1415+1G>A rs757635087 0.00005
NM_032977.4(CASP10):c.923-8T>C rs763446704 0.00005
NM_033629.6(TREX1):c.1A>G (p.Met1Val) rs761165865 0.00005
NM_033629.6(TREX1):c.24G>A (p.Pro8=) rs147463121 0.00005
NM_033629.6(TREX1):c.338G>A (p.Arg113Gln) rs201496629 0.00005
NM_033629.6(TREX1):c.387C>T (p.Tyr129=) rs202025490 0.00005
NM_033629.6(TREX1):c.513C>T (p.His171=) rs531660451 0.00005
NM_000043.6(FAS):c.444-15T>C rs372996634 0.00004
NM_000043.6(FAS):c.505+17G>A rs767973417 0.00004
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000138.5(FBN1):c.1880G>A (p.Arg627His) rs746073643 0.00004
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile) rs140503215 0.00004
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr) rs955639059 0.00004
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser) rs145464311 0.00004
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys) rs763485521 0.00004
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser) rs776667707 0.00004
NM_000138.5(FBN1):c.3837A>G (p.Val1279=) rs59007872 0.00004
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His) rs749196340 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln) rs774798866 0.00004
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val) rs766850261 0.00004
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr) rs765878996 0.00004
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn) rs530059069 0.00004
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser) rs758748297 0.00004
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp) rs771437236 0.00004
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr) rs775206410 0.00004
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682 0.00004
NM_000383.4(AIRE):c.1081C>T (p.Pro361Ser) rs1267538837 0.00004
NM_000383.4(AIRE):c.1279-8T>G rs374358283 0.00004
NM_000383.4(AIRE):c.1348G>A (p.Ala450Thr) rs758446796 0.00004
NM_000383.4(AIRE):c.1398C>T (p.Pro466=) rs1402673356 0.00004
NM_000383.4(AIRE):c.1403C>T (p.Thr468Met) rs775349581 0.00004
NM_000383.4(AIRE):c.1458G>A (p.Gly486=) rs774298250 0.00004
NM_000383.4(AIRE):c.1503+10G>A rs1319625944 0.00004
NM_000383.4(AIRE):c.328C>T (p.Arg110Trp) rs764029559 0.00004
NM_000383.4(AIRE):c.347C>T (p.Pro116Leu) rs151049459 0.00004
NM_000383.4(AIRE):c.351C>T (p.Ala117=) rs201929488 0.00004
NM_000383.4(AIRE):c.352G>A (p.Val118Ile) rs370599883 0.00004
NM_000383.4(AIRE):c.488C>A (p.Pro163His) rs771592755 0.00004
NM_000383.4(AIRE):c.531C>T (p.Leu177=) rs538568691 0.00004
NM_000383.4(AIRE):c.652+1G>T rs199612115 0.00004
NM_000383.4(AIRE):c.655G>A (p.Gly219Ser) rs139620961 0.00004
NM_000383.4(AIRE):c.73G>C (p.Ala25Pro) rs761025044 0.00004
NM_000383.4(AIRE):c.740G>A (p.Arg247His) rs763487370 0.00004
NM_000383.4(AIRE):c.947G>A (p.Arg316Gln) rs202027254 0.00004
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596 0.00004
NM_000545.8(HNF1A):c.150C>T (p.Cys50=) rs193922583 0.00004
NM_000545.8(HNF1A):c.236A>T (p.Glu79Val) rs143753579 0.00004
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr) rs201095611 0.00004
NM_000545.8(HNF1A):c.713+13G>A rs755961371 0.00004
NM_000545.8(HNF1A):c.962G>A (p.Arg321His) rs751761766 0.00004
NM_000639.2(FASLG):c.-136G>A rs55804267 0.00004
NM_000639.3(FASLG):c.*306A>C rs556639319 0.00004
NM_000639.3(FASLG):c.*32T>C rs775421228 0.00004
NM_000639.3(FASLG):c.-16T>C rs781373207 0.00004
NM_000639.3(FASLG):c.109C>G (p.Pro37Ala) rs145731782 0.00004
NM_000639.3(FASLG):c.176C>T (p.Pro59Leu) rs375737004 0.00004
NM_000639.3(FASLG):c.394+3G>A rs376383896 0.00004
NM_001079.4(ZAP70):c.732C>T (p.Asp244=) rs201683657 0.00004
NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys) rs757850683 0.00004
NM_001370466.1(NOD2):c.-8-2258C>T rs117611225 0.00004
NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val) rs769622495 0.00004
NM_001370466.1(NOD2):c.1161C>T (p.Asn387=) rs937713503 0.00004
NM_001370466.1(NOD2):c.1178G>A (p.Arg393His) rs199475913 0.00004
NM_001370466.1(NOD2):c.1196G>A (p.Arg399His) rs562225614 0.00004
NM_001370466.1(NOD2):c.1198C>T (p.Pro400Ser) rs760982375 0.00004
NM_001370466.1(NOD2):c.1234C>T (p.Arg412Cys) rs375201229 0.00004
NM_001370466.1(NOD2):c.1322G>A (p.Arg441His) rs775728252 0.00004
NM_001370466.1(NOD2):c.132C>T (p.Tyr44=) rs754402504 0.00004
NM_001370466.1(NOD2):c.1395G>A (p.Val465=) rs781421828 0.00004
NM_001370466.1(NOD2):c.1540C>T (p.Arg514Trp) rs576658764 0.00004
NM_001370466.1(NOD2):c.1706C>T (p.Thr569Met) rs142077546 0.00004
NM_001370466.1(NOD2):c.178C>T (p.Arg60Cys) rs374128251 0.00004
NM_001370466.1(NOD2):c.1819A>G (p.Arg607Gly) rs970949991 0.00004
NM_001370466.1(NOD2):c.1894G>A (p.Val632Met) rs570167996 0.00004
NM_001370466.1(NOD2):c.1917C>T (p.Ala639=) rs374171106 0.00004
NM_001370466.1(NOD2):c.1918G>A (p.Glu640Lys) rs774425599 0.00004
NM_001370466.1(NOD2):c.1950C>G (p.Phe650Leu) rs374116563 0.00004
NM_001370466.1(NOD2):c.1A>G (p.Met1Val) rs372321755 0.00004
NM_001370466.1(NOD2):c.2024G>A (p.Arg675Gln) rs139104022 0.00004
NM_001370466.1(NOD2):c.2088G>A (p.Pro696=) rs754856212 0.00004
NM_001370466.1(NOD2):c.2116G>A (p.Val706Met) rs746055479 0.00004
NM_001370466.1(NOD2):c.2185C>T (p.Arg729Trp) rs376201089 0.00004
NM_001370466.1(NOD2):c.2198G>A (p.Arg733His) rs763955590 0.00004
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe) rs773758818 0.00004
NM_001370466.1(NOD2):c.2407C>T (p.Arg803Ter) rs760623178 0.00004
NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln) rs770915641 0.00004
NM_001370466.1(NOD2):c.2465+6T>A rs201329309 0.00004
NM_001370466.1(NOD2):c.2558A>G (p.Asn853Ser) rs374506720 0.00004
NM_001370466.1(NOD2):c.2565C>T (p.Tyr855=) rs766014518 0.00004
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=) rs142559533 0.00004
NM_001370466.1(NOD2):c.2736T>C (p.Ile912=) rs104895454 0.00004
NM_001370466.1(NOD2):c.2844C>T (p.Leu948=) rs104895463 0.00004
NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu) rs104895457 0.00004
NM_001370466.1(NOD2):c.2917G>A (p.Ala973Thr) rs1282634444 0.00004
NM_001370466.1(NOD2):c.417A>T (p.Glu139Asp) rs749605438 0.00004
NM_001370466.1(NOD2):c.509C>A (p.Ala170Asp) rs373838219 0.00004
NM_001370466.1(NOD2):c.605C>T (p.Thr202Met) rs529640892 0.00004
NM_001370466.1(NOD2):c.606G>A (p.Thr202=) rs771003092 0.00004
NM_001370466.1(NOD2):c.631A>G (p.Ser211Gly) rs1001861018 0.00004
NM_001370466.1(NOD2):c.653C>T (p.Thr218Met) rs148516118 0.00004
NM_001370466.1(NOD2):c.769A>G (p.Thr257Ala) rs369740939 0.00004
NM_001370466.1(NOD2):c.821C>T (p.Ala274Val) rs104895426 0.00004
NM_001370466.1(NOD2):c.956G>A (p.Arg319Gln) rs759520552 0.00004
NM_001372051.1(CASP8):c.*891C>T rs1316267855 0.00004
NM_001372051.1(CASP8):c.431T>C (p.Ile144Thr) rs142688117 0.00004
NM_001372051.1(CASP8):c.667G>A (p.Asp223Asn) rs772942337 0.00004
NM_001372051.1(CASP8):c.756C>T (p.Pro252=) rs751874097 0.00004
NM_001372051.1(CASP8):c.972T>C (p.Tyr324=) rs368087314 0.00004
NM_001378687.1(ATP2C1):c.*127A>G rs767826698 0.00004
NM_001378687.1(ATP2C1):c.*1604T>C rs1259901914 0.00004
NM_001715.3(BLK):c.252G>C (p.Lys84Asn) rs778435147 0.00004
NM_001715.3(BLK):c.344G>A (p.Arg115Gln) rs367628135 0.00004
NM_001715.3(BLK):c.672C>T (p.Ala224=) rs201252364 0.00004
NM_002296.4(LBR):c.1640A>G (p.Asn547Ser) rs374343844 0.00004
NM_003263.4(TLR1):c.2036T>C (p.Ile679Thr) rs56205407 0.00004
NM_004944.4(DNASE1L3):c.360T>C (p.His120=) rs146555960 0.00004
NM_004944.4(DNASE1L3):c.730G>A (p.Val244Ile) rs778387758 0.00004
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_005214.5(CTLA4):c.312G>A (p.Thr104=) rs770065318 0.00004
NM_005214.5(CTLA4):c.411G>A (p.Pro137=) rs188862082 0.00004
NM_006254.4(PRKCD):c.115+14C>G rs781949983 0.00004
NM_006254.4(PRKCD):c.1671C>T (p.Phe557=) rs147601598 0.00004
NM_006254.4(PRKCD):c.1743+14G>A rs377684585 0.00004
NM_006254.4(PRKCD):c.174G>A (p.Thr58=) rs55719519 0.00004
NM_006254.4(PRKCD):c.217C>T (p.Leu73=) rs782144950 0.00004
NM_006254.4(PRKCD):c.240A>G (p.Pro80=) rs781855123 0.00004
NM_006254.4(PRKCD):c.373G>A (p.Val125Met) rs370069134 0.00004
NM_006254.4(PRKCD):c.44G>C (p.Gly15Ala) rs369358922 0.00004
NM_006254.4(PRKCD):c.579C>T (p.Asn193=) rs781809625 0.00004
NM_006254.4(PRKCD):c.693C>T (p.His231=) rs982499152 0.00004
NM_006254.4(PRKCD):c.960C>T (p.Thr320=) rs143202454 0.00004
NM_007315.4(STAT1):c.1222-8T>C rs771679538 0.00004
NM_007315.4(STAT1):c.1569A>G (p.Gly523=) rs1211461298 0.00004
NM_007315.4(STAT1):c.1727+13G>A rs377146580 0.00004
NM_007315.4(STAT1):c.1856G>A (p.Arg619Gln) rs369060692 0.00004
NM_007315.4(STAT1):c.1899C>T (p.Pro633=) rs141415212 0.00004
NM_007315.4(STAT1):c.2190G>A (p.Glu730=) rs748388742 0.00004
NM_007315.4(STAT1):c.429C>G (p.Asp143Glu) rs780853224 0.00004
NM_007315.4(STAT1):c.864C>T (p.Thr288=) rs61756198 0.00004
NM_007315.4(STAT1):c.992G>A (p.Arg331Lys) rs533671897 0.00004
NM_014009.4(FOXP3):c.1295G>A (p.Ter432=) rs782112916 0.00004
NM_014009.4(FOXP3):c.152G>A (p.Arg51Gln) rs1170772176 0.00004
NM_014009.4(FOXP3):c.253C>T (p.Arg85Trp) rs376715533 0.00004
NM_014009.4(FOXP3):c.323C>T (p.Thr108Met) rs782572328 0.00004
NM_014009.4(FOXP3):c.331G>A (p.Ala111Thr) rs1424687079 0.00004
NM_014009.4(FOXP3):c.670C>G (p.Leu224Val) rs373242883 0.00004
NM_014009.4(FOXP3):c.895C>T (p.Arg299Trp) rs200928046 0.00004
NM_014009.4(FOXP3):c.926G>A (p.Arg309Gln) rs782731811 0.00004
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=) rs775726168 0.00004
NM_032977.4(CASP10):c.*3437C>A rs1349250158 0.00004
NM_032977.4(CASP10):c.1093del (p.Tyr365fs) rs781003519 0.00004
NM_032977.4(CASP10):c.1466G>A (p.Arg489Gln) rs535121774 0.00004
NM_032977.4(CASP10):c.20A>G (p.His7Arg) rs200935960 0.00004
NM_032977.4(CASP10):c.310C>T (p.Arg104Ter) rs779212325 0.00004
NM_032977.4(CASP10):c.507C>G (p.Cys169Trp) rs774005416 0.00004
NM_032977.4(CASP10):c.553A>G (p.Ile185Val) rs369231920 0.00004
NM_032977.4(CASP10):c.577+3A>G rs780947440 0.00004
NM_032977.4(CASP10):c.729A>G (p.Arg243=) rs374515060 0.00004
NM_032977.4(CASP10):c.750C>T (p.Ser250=) rs757706964 0.00004
NM_033629.6(TREX1):c.197A>G (p.Lys66Arg) rs188508043 0.00004
NM_033629.6(TREX1):c.247G>A (p.Glu83Lys) rs745434375 0.00004
NM_033629.6(TREX1):c.250A>G (p.Ile84Val) rs775075513 0.00004
NM_033629.6(TREX1):c.296G>A (p.Cys99Tyr) rs778869156 0.00004
NM_033629.6(TREX1):c.403C>T (p.Gln135Ter) rs746384382 0.00004
NM_033629.6(TREX1):c.416del (p.Ala139fs) rs763229085 0.00004
NM_033629.6(TREX1):c.471T>G (p.Thr157=) rs751022472 0.00004
NM_033629.6(TREX1):c.473C>T (p.Ala158Val) rs762011967 0.00004
NM_033629.6(TREX1):c.581C>T (p.Ser194Leu) rs531702332 0.00004
NM_033629.6(TREX1):c.8C>T (p.Ser3Leu) rs140029866 0.00004
NM_080628.3(TLDC2):c.*18-433T>C rs757372495 0.00004
NM_080628.3(TLDC2):c.*18-466G>A rs886056645 0.00004
NM_000043.6(FAS):c.196+3A>C rs370162732 0.00003
NM_000043.6(FAS):c.216C>T (p.Asp72=) rs766429180 0.00003
NM_000043.6(FAS):c.247G>A (p.Val83Met) rs199790261 0.00003
NM_000043.6(FAS):c.488C>T (p.Thr163Ile) rs563551720 0.00003
NM_000043.6(FAS):c.630T>C (p.His210=) rs751973753 0.00003
NM_000043.6(FAS):c.651+8T>C rs771146577 0.00003
NM_000043.6(FAS):c.867A>C (p.Glu289Asp) rs377337130 0.00003
NM_000043.6(FAS):c.945C>T (p.Leu315=) rs1188345187 0.00003
NM_000043.6(FAS):c.976A>C (p.Asn326His) rs770595930 0.00003
NM_000043.6(FAS):c.97A>G (p.Lys33Glu) rs55766344 0.00003
NM_000138.5(FBN1):c.*1672G>A rs886051231 0.00003
NM_000138.5(FBN1):c.-98G>T rs886051254 0.00003
NM_000138.5(FBN1):c.164+5A>G rs397515760 0.00003
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe) rs767293952 0.00003
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr) rs377621293 0.00003
NM_000138.5(FBN1):c.2658G>A (p.Pro886=) rs193922192 0.00003
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly) rs754919275 0.00003
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) rs199682686 0.00003
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys) rs186805359 0.00003
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) rs747189975 0.00003
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val) rs756754760 0.00003
NM_000138.5(FBN1):c.442+1G>A rs868403743 0.00003
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp) rs767884599 0.00003
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His) rs369482365 0.00003
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser) rs146063839 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) rs747777955 0.00003
NM_000246.4(CIITA):c.2096C>T (p.Pro699Leu) rs369787912 0.00003
NM_000246.4(CIITA):c.3217T>A (p.Ser1073Thr) rs761139192 0.00003
NM_000383.4(AIRE):c.1031C>T (p.Thr344Ile) rs929430876 0.00003
NM_000383.4(AIRE):c.132+16G>A rs1272044102 0.00003
NM_000383.4(AIRE):c.1327G>A (p.Val443Met) rs557522986 0.00003
NM_000383.4(AIRE):c.1347C>T (p.Cys449=) rs367619299 0.00003
NM_000383.4(AIRE):c.1400+7G>C rs781592443 0.00003
NM_000383.4(AIRE):c.1481G>A (p.Arg494His) rs528762050 0.00003
NM_000383.4(AIRE):c.1563C>T (p.Ser521=) rs746873146 0.00003
NM_000383.4(AIRE):c.1620G>A (p.Ala540=) rs372219460 0.00003
NM_000383.4(AIRE):c.30T>C (p.Leu10=) rs1024577400 0.00003
NM_000383.4(AIRE):c.464-6A>G rs773945988 0.00003
NM_000383.4(AIRE):c.57G>A (p.Ala19=) rs761739665 0.00003
NM_000383.4(AIRE):c.659C>T (p.Ser220Phe) rs753236604 0.00003
NM_000383.4(AIRE):c.799-18C>T rs752494949 0.00003
NM_000383.4(AIRE):c.799-4G>A rs1359244532 0.00003
NM_000383.4(AIRE):c.872T>C (p.Leu291Pro) rs767272852 0.00003
NM_000383.4(AIRE):c.979C>A (p.Leu327Ile) rs1029648118 0.00003
NM_000383.4(AIRE):c.983G>A (p.Arg328Gln) rs775921321 0.00003
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys) rs371544082 0.00003
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg) rs373180062 0.00003
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile) rs371759652 0.00003
NM_000639.3(FASLG):c.*120G>A rs886045571 0.00003
NM_000639.3(FASLG):c.152C>T (p.Pro51Leu) rs61761322 0.00003
NM_000639.3(FASLG):c.179C>T (p.Pro60Leu) rs780144691 0.00003
NM_000639.3(FASLG):c.270T>C (p.Val90=) rs765440709 0.00003
NM_000639.3(FASLG):c.319C>A (p.Leu107Ile) rs748768839 0.00003
NM_000639.3(FASLG):c.323A>G (p.Gln108Arg) rs369342226 0.00003
NM_000639.3(FASLG):c.49A>C (p.Ser17Arg) rs777720730 0.00003
NM_000639.3(FASLG):c.532A>G (p.Lys178Glu) rs772212573 0.00003
NM_000639.3(FASLG):c.624C>T (p.Ser208=) rs761180254 0.00003
NM_001370466.1(NOD2):c.*186C>G rs886052045 0.00003
NM_001370466.1(NOD2):c.*8G>A rs199475923 0.00003
NM_001370466.1(NOD2):c.1027C>T (p.His343Tyr) rs199858111 0.00003
NM_001370466.1(NOD2):c.1110G>A (p.Pro370=) rs766883774 0.00003
NM_001370466.1(NOD2):c.1215G>A (p.Ala405=) rs779751017 0.00003
NM_001370466.1(NOD2):c.1239C>T (p.Thr413=) rs143395754 0.00003
NM_001370466.1(NOD2):c.134A>G (p.Glu45Gly) rs138881230 0.00003
NM_001370466.1(NOD2):c.1378G>A (p.Val460Ile) rs908626604 0.00003
NM_001370466.1(NOD2):c.1520G>T (p.Gly507Val) rs139663808 0.00003
NM_001370466.1(NOD2):c.1678C>T (p.Arg560Cys) rs104895479 0.00003
NM_001370466.1(NOD2):c.1865T>C (p.Ile622Thr) rs367637762 0.00003
NM_001370466.1(NOD2):c.1956A>G (p.Ala652=) rs756746121 0.00003
NM_001370466.1(NOD2):c.1994A>G (p.Glu665Gly) rs766687492 0.00003
NM_001370466.1(NOD2):c.2027G>A (p.Arg676His) rs750096604 0.00003
NM_001370466.1(NOD2):c.2073C>T (p.His691=) rs368952727 0.00003
NM_001370466.1(NOD2):c.2186G>A (p.Arg729Gln) rs375713299 0.00003
NM_001370466.1(NOD2):c.230T>C (p.Ile77Thr) rs912789864 0.00003
NM_001370466.1(NOD2):c.2381+15G>A rs931489429 0.00003
NM_001370466.1(NOD2):c.2388C>T (p.Arg796=) rs757770726 0.00003
NM_001370466.1(NOD2):c.2393A>G (p.Asn798Ser) rs747787438 0.00003
NM_001370466.1(NOD2):c.2426T>C (p.Ile809Thr) rs763192145 0.00003
NM_001370466.1(NOD2):c.2465+1G>A rs373550987 0.00003
NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val) rs104895486 0.00003
NM_001370466.1(NOD2):c.247G>A (p.Ala83Thr) rs571102620 0.00003
NM_001370466.1(NOD2):c.256G>A (p.Asp86Asn) rs104895468 0.00003
NM_001370466.1(NOD2):c.2572G>C (p.Ala858Pro) rs759456303 0.00003
NM_001370466.1(NOD2):c.2658C>T (p.Asp886=) rs104895451 0.00003
NM_001370466.1(NOD2):c.2974C>T (p.Arg992Ter) rs104895491 0.00003
NM_001370466.1(NOD2):c.300G>A (p.Ser100=) rs535978538 0.00003
NM_001370466.1(NOD2):c.313C>T (p.Arg105Ter) rs757487598 0.00003
NM_001370466.1(NOD2):c.616C>T (p.Gln206Ter) rs781333877 0.00003
NM_001370466.1(NOD2):c.617A>C (p.Gln206Pro) rs369098290 0.00003
NM_001370466.1(NOD2):c.726G>A (p.Pro242=) rs369766454 0.00003
NM_001370466.1(NOD2):c.840G>A (p.Thr280=) rs376601025 0.00003
NM_001370466.1(NOD2):c.845T>C (p.Leu282Pro) rs767225117 0.00003
NM_001370466.1(NOD2):c.907C>T (p.Pro303Ser) rs773132030 0.00003
NM_001370466.1(NOD2):c.947T>C (p.Leu316Pro) rs369732140 0.00003
NM_001372051.1(CASP8):c.1048G>A (p.Gly350Arg) rs202185417 0.00003
NM_001372051.1(CASP8):c.1128G>C (p.Glu376Asp) rs549753655 0.00003
NM_001372051.1(CASP8):c.306-1980C>A rs376590303 0.00003
NM_001372051.1(CASP8):c.660+14T>A rs1422636526 0.00003
NM_001372051.1(CASP8):c.919A>G (p.Met307Val) rs148960588 0.00003
NM_001378687.1(ATP2C1):c.-90G>C rs1281629898 0.00003
NM_001715.3(BLK):c.164A>G (p.His55Arg) rs202053568 0.00003
NM_001754.5(RUNX1):c.259G>T (p.Gly87Cys) rs561166961 0.00003
NM_004944.4(DNASE1L3):c.211C>T (p.Leu71=) rs201845352 0.00003
NM_004944.4(DNASE1L3):c.601G>A (p.Ala201Thr) rs777430061 0.00003
NM_004944.4(DNASE1L3):c.709G>C (p.Val237Leu) rs747698984 0.00003
NM_005214.5(CTLA4):c.22C>T (p.Arg8Trp) rs201778935 0.00003
NM_005214.5(CTLA4):c.268A>G (p.Met90Val) rs370443546 0.00003
NM_005214.5(CTLA4):c.435C>T (p.Asn145=) rs777300741 0.00003
NM_005214.5(CTLA4):c.615C>G (p.Pro205=) rs74808460 0.00003
NM_006254.4(PRKCD):c.1002C>T (p.Tyr334=) rs546426559 0.00003
NM_006254.4(PRKCD):c.1156C>T (p.Leu386=) rs374287889 0.00003
NM_006254.4(PRKCD):c.1342T>A (p.Tyr448Asn) rs141979341 0.00003
NM_006254.4(PRKCD):c.1554+7C>T rs370247870 0.00003
NM_006254.4(PRKCD):c.1555-6C>T rs370593377 0.00003
NM_006254.4(PRKCD):c.1617C>T (p.Tyr539=) rs375360762 0.00003
NM_006254.4(PRKCD):c.177C>T (p.Phe59=) rs369306770 0.00003
NM_006254.4(PRKCD):c.202G>A (p.Val68Ile) rs781950537 0.00003
NM_006254.4(PRKCD):c.405C>T (p.Asp135=) rs200462015 0.00003
NM_006254.4(PRKCD):c.539+9C>T rs77075429 0.00003
NM_006254.4(PRKCD):c.571+15A>C rs781967950 0.00003
NM_006254.4(PRKCD):c.633C>T (p.Thr211=) rs372745352 0.00003
NM_006254.4(PRKCD):c.63C>T (p.Asp21=) rs369037399 0.00003
NM_006254.4(PRKCD):c.657+11G>C rs781971358 0.00003
NM_006254.4(PRKCD):c.657+3G>A rs199785209 0.00003
NM_006254.4(PRKCD):c.715A>G (p.Met239Val) rs369236318 0.00003
NM_006254.4(PRKCD):c.799A>C (p.Asn267His) rs1371733624 0.00003
NM_006254.4(PRKCD):c.915C>T (p.Ala305=) rs201862364 0.00003
NM_006254.4(PRKCD):c.949G>A (p.Glu317Lys) rs55929201 0.00003
NM_007315.4(STAT1):c.1347+10T>C rs376263835 0.00003
NM_007315.4(STAT1):c.1362C>T (p.Pro454=) rs753907638 0.00003
NM_007315.4(STAT1):c.1431G>A (p.Leu477=) rs1384090178 0.00003
NM_007315.4(STAT1):c.1632+5G>A rs761686482 0.00003
NM_007315.4(STAT1):c.1713T>G (p.Pro571=) rs772114461 0.00003
NM_007315.4(STAT1):c.1744A>G (p.Ile582Val) rs774306421 0.00003
NM_007315.4(STAT1):c.1839A>G (p.Thr613=) rs779585092 0.00003
NM_007315.4(STAT1):c.201A>G (p.Gln67=) rs148148052 0.00003
NM_007315.4(STAT1):c.2059+5G>A rs757528949 0.00003
NM_007315.4(STAT1):c.2087C>A (p.Pro696His) rs138723664 0.00003
NM_007315.4(STAT1):c.541+6G>C rs775498408 0.00003
NM_007315.4(STAT1):c.785+14A>G rs901076750 0.00003
NM_007315.4(STAT1):c.801G>A (p.Ala267=) rs146141778 0.00003
NM_007315.4(STAT1):c.898G>C (p.Val300Leu) rs143131630 0.00003
NM_014009.4(FOXP3):c.1051C>T (p.Leu351=) rs782127412 0.00003
NM_014009.4(FOXP3):c.1106G>A (p.Arg369His) rs782443295 0.00003
NM_014009.4(FOXP3):c.246C>T (p.Ser82=) rs368483472 0.00003
NM_014009.4(FOXP3):c.495G>A (p.Pro165=) rs781920028 0.00003
NM_014009.4(FOXP3):c.634G>C (p.Glu212Gln) rs140794570 0.00003
NM_014009.4(FOXP3):c.735+14G>A rs782539969 0.00003
NM_014009.4(FOXP3):c.773C>T (p.Ala258Val) rs369698589 0.00003
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=) rs756532676 0.00003
NM_016562.4(TLR7):c.2716G>A (p.Glu906Lys) rs202022420 0.00003
NM_031157.4(HNRNPA1):c.911G>A (p.Ser304Asn) rs483353020 0.00003
NM_032977.4(CASP10):c.*1327G>A rs1945654880 0.00003
NM_032977.4(CASP10):c.*1538T>A rs886055416 0.00003
NM_032977.4(CASP10):c.*3365A>G rs886055429 0.00003
NM_032977.4(CASP10):c.*732T>A rs886055409 0.00003
NM_032977.4(CASP10):c.*846A>G rs41529249 0.00003
NM_032977.4(CASP10):c.1023C>T (p.Cys341=) rs114098515 0.00003
NM_032977.4(CASP10):c.1053C>T (p.Phe351=) rs761697792 0.00003
NM_032977.4(CASP10):c.1350G>T (p.Arg450=) rs370670949 0.00003
NM_032977.4(CASP10):c.163T>C (p.Ser55Pro) rs773417904 0.00003
NM_032977.4(CASP10):c.314T>C (p.Leu105Pro) rs200530667 0.00003
NM_032977.4(CASP10):c.440T>C (p.Met147Thr) rs121909776 0.00003
NM_032977.4(CASP10):c.555A>G (p.Ile185Met) rs758869726 0.00003
NM_032977.4(CASP10):c.879C>A (p.Ser293Arg) rs369897442 0.00003
NM_032977.4(CASP10):c.89A>T (p.Asn30Ile) rs201782416 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_033629.6(TREX1):c.299T>C (p.Phe100Ser) rs757909936 0.00003
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637 0.00003
NM_033629.6(TREX1):c.587C>T (p.Thr196Met) rs754998766 0.00003
NM_033629.6(TREX1):c.649C>T (p.Arg217Trp) rs201068640 0.00003
NM_033629.6(TREX1):c.690G>C (p.Arg230Ser) rs55691060 0.00003
NM_033629.6(TREX1):c.719G>A (p.Arg240Lys) rs745707260 0.00003
NM_033629.6(TREX1):c.73C>A (p.Pro25Thr) rs748145509 0.00003
NM_152641.4(ARID2):c.3577A>G (p.Thr1193Ala) rs145854622 0.00003
NM_000043.6(FAS):c.*386A>G rs1186205053 0.00002
NM_000043.6(FAS):c.*839A>G rs779728201 0.00002
NM_000043.6(FAS):c.*874T>A rs1436430653 0.00002
NM_000043.6(FAS):c.347A>G (p.Glu116Gly) rs749714005 0.00002
NM_000043.6(FAS):c.413C>T (p.Thr138Ile) rs760912307 0.00002
NM_000043.6(FAS):c.519C>T (p.Asn173=) rs1382455258 0.00002
NM_000043.6(FAS):c.57G>A (p.Ser19=) rs757754872 0.00002
NM_000043.6(FAS):c.628C>T (p.His210Tyr) rs1428151683 0.00002
NM_000043.6(FAS):c.879A>G (p.Thr293=) rs1413117342 0.00002
NM_000043.6(FAS):c.943C>T (p.Leu315Phe) rs1475820915 0.00002
NM_000043.6(FAS):c.948G>A (p.Lys316=) rs114502430 0.00002
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln) rs775489067 0.00002
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn) rs749253325 0.00002
NM_000138.5(FBN1):c.2344A>G (p.Arg782Gly) rs752891726 0.00002
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) rs794728328 0.00002
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val) rs1183556572 0.00002
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His) rs137854456 0.00002
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser) rs147584221 0.00002
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys) rs371103773 0.00002
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu) rs368650399 0.00002
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser) rs779490973 0.00002
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile) rs140626 0.00002
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg) rs1413737899 0.00002
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser) rs756506237 0.00002
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys) rs770257902 0.00002
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg) rs770839761 0.00002
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu) rs371110611 0.00002
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=) rs750331217 0.00002
NM_000138.5(FBN1):c.7727G>A (p.Arg2576His) rs369888822 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000138.5(FBN1):c.8227-10G>A rs765093559 0.00002
NM_000246.4(CIITA):c.2817-8C>G rs775728920 0.00002
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) rs755701957 0.00002
NM_000383.4(AIRE):c.1014C>G (p.Ser338=) rs746054293 0.00002
NM_000383.4(AIRE):c.108C>A (p.Asp36Glu) rs758891043 0.00002
NM_000383.4(AIRE):c.1191G>T (p.Leu397=) rs572680101 0.00002
NM_000383.4(AIRE):c.1193C>T (p.Pro398Leu) rs754391375 0.00002
NM_000383.4(AIRE):c.1302C>T (p.Cys434=) rs370969296 0.00002
NM_000383.4(AIRE):c.1329G>A (p.Val443=) rs370017667 0.00002
NM_000383.4(AIRE):c.1333C>T (p.Arg445Trp) rs921069738 0.00002
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln) rs753878067 0.00002
NM_000383.4(AIRE):c.1370G>A (p.Cys457Tyr) rs373383785 0.00002
NM_000383.4(AIRE):c.1401-7G>A rs888720163 0.00002
NM_000383.4(AIRE):c.1434C>T (p.Asp478=) rs575870442 0.00002
NM_000383.4(AIRE):c.1454A>T (p.Glu485Val) rs779510704 0.00002
NM_000383.4(AIRE):c.1503+7G>T rs1161056630 0.00002
NM_000383.4(AIRE):c.1516A>G (p.Ser506Gly) rs201602355 0.00002
NM_000383.4(AIRE):c.1566+11C>A rs200735043 0.00002
NM_000383.4(AIRE):c.1612C>T (p.Arg538Cys) rs1416029492 0.00002
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000383.4(AIRE):c.1623C>G (p.Ala541=) rs1332443962 0.00002
NM_000383.4(AIRE):c.18G>C (p.Ala6=) rs1228505896 0.00002
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) rs179363880 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000383.4(AIRE):c.276G>A (p.Arg92=) rs765892829 0.00002
NM_000383.4(AIRE):c.423C>T (p.Ala141=) rs572002344 0.00002
NM_000383.4(AIRE):c.453C>T (p.Thr151=) rs554372593 0.00002
NM_000383.4(AIRE):c.498G>A (p.Pro166=) rs372169498 0.00002
NM_000383.4(AIRE):c.540G>A (p.Gly180=) rs777290325 0.00002
NM_000383.4(AIRE):c.607C>T (p.Arg203Ter) rs755490967 0.00002
NM_000383.4(AIRE):c.653-15G>A rs371094356 0.00002
NM_000383.4(AIRE):c.753C>G (p.Gly251=) rs772650680 0.00002
NM_000383.4(AIRE):c.790G>A (p.Ala264Thr) rs746154390 0.00002
NM_000383.4(AIRE):c.880-20G>C rs749193829 0.00002
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp) rs1261968643 0.00002
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu) rs764483607 0.00002
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn) rs1315721381 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu) rs754306821 0.00002
NM_000639.3(FASLG):c.*203C>T rs886045572 0.00002
NM_000639.3(FASLG):c.137C>T (p.Pro46Leu) rs779382158 0.00002
NM_000639.3(FASLG):c.144A>G (p.Pro48=) rs55664927 0.00002
NM_000639.3(FASLG):c.344G>A (p.Arg115Gln) rs1023476500 0.00002
NM_000639.3(FASLG):c.497A>G (p.Tyr166Cys) rs760432021 0.00002
NM_001079.4(ZAP70):c.692C>T (p.Thr231Met) rs141613906 0.00002
NM_001370466.1(NOD2):c.*394C>T rs886052048 0.00002
NM_001370466.1(NOD2):c.-8-2171G>A rs571559366 0.00002
NM_001370466.1(NOD2):c.1003del (p.Asp335fs) rs766265864 0.00002
NM_001370466.1(NOD2):c.1030C>G (p.Pro344Ala) rs775443143 0.00002
NM_001370466.1(NOD2):c.1087G>A (p.Asp363Asn) rs147283871 0.00002
NM_001370466.1(NOD2):c.1124C>T (p.Ser375Phe) rs753241960 0.00002
NM_001370466.1(NOD2):c.119C>G (p.Ser40Cys) rs146149433 0.00002
NM_001370466.1(NOD2):c.1321C>T (p.Arg441Cys) rs769988393 0.00002
NM_001370466.1(NOD2):c.133G>A (p.Glu45Lys) rs760069458 0.00002
NM_001370466.1(NOD2):c.1340A>G (p.Gln447Arg) rs367819045 0.00002
NM_001370466.1(NOD2):c.1569G>C (p.Leu523=) rs372877004 0.00002
NM_001370466.1(NOD2):c.1754C>T (p.Ala585Val) rs104895439 0.00002
NM_001370466.1(NOD2):c.1876G>C (p.Glu626Gln) rs757895989 0.00002
NM_001370466.1(NOD2):c.189C>T (p.Asp63=) rs771336423 0.00002
NM_001370466.1(NOD2):c.1923del (p.His642fs) rs758485603 0.00002
NM_001370466.1(NOD2):c.2056C>T (p.Arg686Cys) rs104895440 0.00002
NM_001370466.1(NOD2):c.2130C>T (p.Pro710=) rs769210593 0.00002
NM_001370466.1(NOD2):c.2133G>C (p.Gly711=) rs143963486 0.00002
NM_001370466.1(NOD2):c.2139C>A (p.Ile713=) rs104895441 0.00002
NM_001370466.1(NOD2):c.2298G>A (p.Val766=) rs534738790 0.00002
NM_001370466.1(NOD2):c.2337C>G (p.Gly779=) rs199475916 0.00002
NM_001370466.1(NOD2):c.2528G>A (p.Arg843Lys) rs768889214 0.00002
NM_001370466.1(NOD2):c.2767A>C (p.Met923Leu) rs527892258 0.00002
NM_001370466.1(NOD2):c.2792A>G (p.Glu931Gly) rs746965976 0.00002
NM_001370466.1(NOD2):c.2802-2A>G rs564226539 0.00002
NM_001370466.1(NOD2):c.2970-16A>G rs530365159 0.00002
NM_001370466.1(NOD2):c.3012C>T (p.Leu1004=) rs201214915 0.00002
NM_001370466.1(NOD2):c.3015C>A (p.Gly1005=) rs765204397 0.00002
NM_001370466.1(NOD2):c.437C>T (p.Pro146Leu) rs770524298 0.00002
NM_001370466.1(NOD2):c.510C>T (p.Ala170=) rs765729513 0.00002
NM_001370466.1(NOD2):c.790G>A (p.Asp264Asn) rs104895424 0.00002
NM_001370466.1(NOD2):c.815G>A (p.Gly272Asp) rs771184127 0.00002
NM_001372051.1(CASP8):c.1137C>T (p.Pro379=) rs369704935 0.00002
NM_001372051.1(CASP8):c.120T>G (p.Asp40Glu) rs759793127 0.00002
NM_001372051.1(CASP8):c.1310A>T (p.Asp437Val) rs561729612 0.00002
NM_001372051.1(CASP8):c.306-1910G>A rs373232880 0.00002
NM_001372051.1(CASP8):c.306-1915A>G rs761301334 0.00002
NM_001372051.1(CASP8):c.306-1935G>A rs774427459 0.00002
NM_001372051.1(CASP8):c.452T>C (p.Ile151Thr) rs367807709 0.00002
NM_001372051.1(CASP8):c.528C>T (p.Asn176=) rs774015258 0.00002
NM_001372051.1(CASP8):c.660+6C>T rs370400442 0.00002
NM_001372051.1(CASP8):c.803-14A>T rs1419441273 0.00002
NM_001372051.1(CASP8):c.843C>A (p.Ile281=) rs199934929 0.00002
NM_001372051.1(CASP8):c.94C>G (p.Gln32Glu) rs999368756 0.00002
NM_001378687.1(ATP2C1):c.*1214A>G rs886057990 0.00002
NM_001378687.1(ATP2C1):c.*856G>A rs1267244925 0.00002
NM_004944.4(DNASE1L3):c.275G>A (p.Arg92Gln) rs561644406 0.00002
NM_004944.4(DNASE1L3):c.448G>A (p.Val150Met) rs146805633 0.00002
NM_005214.5(CTLA4):c.110-3T>C rs773279316 0.00002
NM_005214.5(CTLA4):c.117C>T (p.His39=) rs760446668 0.00002
NM_005214.5(CTLA4):c.171G>A (p.Val57=) rs373393185 0.00002
NM_006254.4(PRKCD):c.1060G>A (p.Val354Ile) rs782601434 0.00002
NM_006254.4(PRKCD):c.1086+16C>T rs373350409 0.00002
NM_006254.4(PRKCD):c.116-17del rs1553666741 0.00002
NM_006254.4(PRKCD):c.1206A>G (p.Thr402=) rs74485893 0.00002
NM_006254.4(PRKCD):c.1415+9G>A rs782267237 0.00002
NM_006254.4(PRKCD):c.1491G>T (p.Glu497Asp) rs781785325 0.00002
NM_006254.4(PRKCD):c.1511G>A (p.Arg504Gln) rs781836069 0.00002
NM_006254.4(PRKCD):c.1744-7G>A rs372537259 0.00002
NM_006254.4(PRKCD):c.1981G>A (p.Ala661Thr) rs149202171 0.00002
NM_006254.4(PRKCD):c.2003C>A (p.Pro668His) rs782557014 0.00002
NM_006254.4(PRKCD):c.2010C>T (p.Phe670=) rs781808423 0.00002
NM_006254.4(PRKCD):c.2028T>C (p.Asp676=) rs782403404 0.00002
NM_006254.4(PRKCD):c.255C>T (p.Thr85=) rs782661116 0.00002
NM_006254.4(PRKCD):c.300C>A (p.Gly100=) rs782734100 0.00002
NM_006254.4(PRKCD):c.315+16G>A rs782245021 0.00002
NM_006254.4(PRKCD):c.435C>T (p.Arg145=) rs782029128 0.00002
NM_006254.4(PRKCD):c.539+10G>A rs1437629018 0.00002
NM_006254.4(PRKCD):c.57C>T (p.Ala19=) rs377115507 0.00002
NM_006254.4(PRKCD):c.604G>A (p.Asp202Asn) rs149165175 0.00002
NM_006254.4(PRKCD):c.647G>A (p.Arg216Gln) rs782428011 0.00002
NM_006254.4(PRKCD):c.840C>T (p.Cys280=) rs145324216 0.00002
NM_006254.4(PRKCD):c.864T>C (p.Ala288=) rs782535622 0.00002
NM_006254.4(PRKCD):c.889-9C>T rs782612523 0.00002
NM_006254.4(PRKCD):c.986-7C>T rs781918067 0.00002
NM_007315.4(STAT1):c.1119A>G (p.Thr373=) rs749099290 0.00002
NM_007315.4(STAT1):c.1225T>C (p.Leu409=) rs756634860 0.00002
NM_007315.4(STAT1):c.1349C>T (p.Thr450Met) rs527393923 0.00002
NM_007315.4(STAT1):c.135C>T (p.His45=) rs566696388 0.00002
NM_007315.4(STAT1):c.1599C>T (p.Pro533=) rs747857564 0.00002
NM_007315.4(STAT1):c.1707G>A (p.Leu569=) rs199668489 0.00002
NM_007315.4(STAT1):c.2238+11C>T rs374341577 0.00002
NM_007315.4(STAT1):c.372+13C>T rs911316159 0.00002
NM_007315.4(STAT1):c.634-11A>G rs760467014 0.00002
NM_007315.4(STAT1):c.670A>T (p.Thr224Ser) rs771750276 0.00002
NM_007315.4(STAT1):c.735C>T (p.Ser245=) rs768384746 0.00002
NM_007315.4(STAT1):c.870A>G (p.Glu290=) rs767586956 0.00002
NM_007315.4(STAT1):c.948G>A (p.Ser316=) rs759164014 0.00002
NM_007315.4(STAT1):c.972C>T (p.Cys324=) rs1181331709 0.00002
NM_014009.4(FOXP3):c.105G>A (p.Leu35=) rs782359163 0.00002
NM_014009.4(FOXP3):c.1116C>A (p.Ala372=) rs1303706775 0.00002
NM_014009.4(FOXP3):c.1146+17T>C rs782486668 0.00002
NM_014009.4(FOXP3):c.116G>A (p.Arg39Gln) rs782639786 0.00002
NM_014009.4(FOXP3):c.1189C>T (p.Arg397Trp) rs28935477 0.00002
NM_014009.4(FOXP3):c.1200C>T (p.Ser400=) rs201723322 0.00002
NM_014009.4(FOXP3):c.140G>T (p.Gly47Val) rs1432262933 0.00002
NM_014009.4(FOXP3):c.157G>A (p.Gly53Arg) rs587780340 0.00002
NM_014009.4(FOXP3):c.201G>A (p.Ser67=) rs1296610779 0.00002
NM_014009.4(FOXP3):c.254G>A (p.Arg85Gln) rs782628979 0.00002
NM_014009.4(FOXP3):c.352C>G (p.Leu118Val) rs1373580534 0.00002
NM_014009.4(FOXP3):c.398C>T (p.Pro133Leu) rs782511378 0.00002
NM_014009.4(FOXP3):c.437G>A (p.Arg146Gln) rs1557116525 0.00002
NM_014009.4(FOXP3):c.439C>G (p.Pro147Ala) rs781856708 0.00002
NM_014009.4(FOXP3):c.505T>C (p.Cys169Arg) rs1237648287 0.00002
NM_014009.4(FOXP3):c.525T>C (p.Ser175=) rs1441216420 0.00002
NM_014009.4(FOXP3):c.611G>A (p.Cys204Tyr) rs368066149 0.00002
NM_014009.4(FOXP3):c.69G>A (p.Ser23=) rs376670807 0.00002
NM_014009.4(FOXP3):c.70C>T (p.Pro24Ser) rs1557116742 0.00002
NM_014009.4(FOXP3):c.736-14G>A rs76798919 0.00002
NM_014009.4(FOXP3):c.824C>T (p.Ser275Phe) rs1395972442 0.00002
NM_014009.4(FOXP3):c.836C>T (p.Ser279Phe) rs781902347 0.00002
NM_014009.4(FOXP3):c.896G>A (p.Arg299Gln) rs782188307 0.00002
NM_014009.4(FOXP3):c.977A>G (p.His326Arg) rs782429831 0.00002
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn) rs373079404 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter) rs139804668 0.00002
NM_032977.4(CASP10):c.*1954C>T rs998383242 0.00002
NM_032977.4(CASP10):c.*2844C>T rs886055424 0.00002
NM_032977.4(CASP10):c.*3478T>G rs886055431 0.00002
NM_032977.4(CASP10):c.*3845C>T rs886535066 0.00002
NM_032977.4(CASP10):c.*733A>T rs1019052979 0.00002
NM_032977.4(CASP10):c.325C>T (p.Arg109Ter) rs201601111 0.00002
NM_032977.4(CASP10):c.347+2T>G rs536573363 0.00002
NM_032977.4(CASP10):c.348-4T>C rs760190275 0.00002
NM_032977.4(CASP10):c.554T>G (p.Ile185Arg) rs753049035 0.00002
NM_032977.4(CASP10):c.596C>T (p.Pro199Leu) rs200079223 0.00002
NM_032977.4(CASP10):c.600T>C (p.Pro200=) rs961213763 0.00002
NM_032977.4(CASP10):c.61C>T (p.Arg21Cys) rs559979934 0.00002
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
NM_033629.6(TREX1):c.286G>A (p.Gly96Arg) rs921270646 0.00002
NM_033629.6(TREX1):c.303T>C (p.Asp101=) rs140833802 0.00002
NM_033629.6(TREX1):c.383G>A (p.Arg128His) rs751124579 0.00002
NM_033629.6(TREX1):c.393C>G (p.Phe131Leu) rs749667732 0.00002
NM_033629.6(TREX1):c.394C>T (p.Pro132Ser) rs200510205 0.00002
NM_033629.6(TREX1):c.553C>T (p.Arg185Cys) rs145721839 0.00002
NM_033629.6(TREX1):c.555C>T (p.Arg185=) rs755796904 0.00002
NM_033629.6(TREX1):c.628T>C (p.Trp210Arg) rs770775387 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_033629.6(TREX1):c.813G>A (p.Lys271=) rs780078867 0.00002
NM_033629.6(TREX1):c.869C>T (p.Pro290Leu) rs148833270 0.00002
NM_033629.6(TREX1):c.894C>T (p.Thr298=) rs764559601 0.00002
NM_080628.3(TLDC2):c.*18-801C>T rs1030352932 0.00002
NM_000043.6(FAS):c.*1313G>A rs192544176 0.00001
NM_000043.6(FAS):c.163G>C (p.Asp55His) rs148677058 0.00001
NM_000043.6(FAS):c.176G>T (p.Cys59Phe) rs886047459 0.00001
NM_000043.6(FAS):c.217T>G (p.Cys73Gly) rs751654768 0.00001
NM_000043.6(FAS):c.246C>T (p.Cys82=) rs777751533 0.00001
NM_000043.6(FAS):c.270G>A (p.Glu90=) rs745375995 0.00001
NM_000043.6(FAS):c.30+12C>T rs558072404 0.00001
NM_000043.6(FAS):c.334+3A>C rs1848316496 0.00001
NM_000043.6(FAS):c.354C>T (p.Asn118=) rs1266114057 0.00001
NM_000043.6(FAS):c.379T>G (p.Cys127Gly) rs1848386782 0.00001
NM_000043.6(FAS):c.432C>A (p.Asp144Glu) rs574338716 0.00001
NM_000043.6(FAS):c.444-19C>T rs764387025 0.00001
NM_000043.6(FAS):c.506-14G>A rs766198534 0.00001
NM_000043.6(FAS):c.524G>A (p.Gly175Glu) rs752208395 0.00001
NM_000043.6(FAS):c.533G>A (p.Cys178Tyr) rs372866793 0.00001
NM_000043.6(FAS):c.608G>T (p.Arg203Ile) rs756880278 0.00001
NM_000043.6(FAS):c.637C>T (p.Pro213Ser) rs755532307 0.00001
NM_000043.6(FAS):c.666A>G (p.Ile222Met) rs767806688 0.00001
NM_000043.6(FAS):c.674C>G (p.Ser225Cys) rs1848626473 0.00001
NM_000043.6(FAS):c.694T>C (p.Tyr232His) rs767866112 0.00001
NM_000043.6(FAS):c.700A>G (p.Thr234Ala) rs962274229 0.00001
NM_000043.6(FAS):c.78A>G (p.Gln26=) rs746017530 0.00001
NM_000043.6(FAS):c.798T>C (p.Asn266=) rs758630212 0.00001
NM_000043.6(FAS):c.79G>A (p.Val27Met) rs201624874 0.00001
NM_000043.6(FAS):c.87C>T (p.Asp29=) rs1323745013 0.00001
NM_000043.6(FAS):c.885T>G (p.Ile295Met) rs1170990745 0.00001
NM_000043.6(FAS):c.937A>G (p.Ile313Val) rs751341397 0.00001
NM_000043.6(FAS):c.950A>G (p.Asp317Gly) rs200864612 0.00001
NM_000043.6(FAS):c.95C>A (p.Ser32Tyr) rs866603022 0.00001
NM_000138.5(FBN1):c.*1437G>A rs549498511 0.00001
NM_000138.5(FBN1):c.*202_*203del rs766125141 0.00001
NM_000138.5(FBN1):c.1031G>A (p.Arg344His) rs200388305 0.00001
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val) rs762598979 0.00001
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys) rs749133312 0.00001
NM_000138.5(FBN1):c.1529C>T (p.Ser510Leu) rs776942896 0.00001
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile) rs1485432119 0.00001
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp) rs752999845 0.00001
NM_000138.5(FBN1):c.164+12G>A rs571164659 0.00001
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser) rs397515763 0.00001
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn) rs377686210 0.00001
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.1907G>A (p.Arg636Lys) rs1335136151 0.00001
NM_000138.5(FBN1):c.2208T>G (p.Asn736Lys) rs1450795956 0.00001
NM_000138.5(FBN1):c.2228G>A (p.Arg743His) rs761942436 0.00001
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val) rs965020667 0.00001
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val) rs772308703 0.00001
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val) rs149681175 0.00001
NM_000138.5(FBN1):c.2785A>T (p.Thr929Ser) rs372203315 0.00001
NM_000138.5(FBN1):c.2858T>C (p.Ile953Thr) rs1177856657 0.00001
NM_000138.5(FBN1):c.297G>A (p.Met99Ile) rs1314594090 0.00001
NM_000138.5(FBN1):c.3400G>A (p.Gly1134Arg) rs372404949 0.00001
NM_000138.5(FBN1):c.353A>G (p.His118Arg) rs765503809 0.00001
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg) rs193922200 0.00001
NM_000138.5(FBN1):c.3592A>G (p.Ile1198Val) rs370572503 0.00001
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr) rs755375255 0.00001
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn) rs1406315227 0.00001
NM_000138.5(FBN1):c.4007A>G (p.His1336Arg) rs886038781 0.00001
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg) rs187177496 0.00001
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val) rs202192505 0.00001
NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys) rs1258352189 0.00001
NM_000138.5(FBN1):c.4283G>A (p.Arg1428His) rs778219976 0.00001
NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn) rs778145681 0.00001
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217 0.00001
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945 0.00001
NM_000138.5(FBN1):c.4328C>T (p.Ala1443Val) rs560230585 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) rs761187818 0.00001
NM_000138.5(FBN1):c.451G>C (p.Glu151Gln) rs1180715983 0.00001
NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) rs794728227 0.00001
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=) rs397515813 0.00001
NM_000138.5(FBN1):c.4718C>T (p.Pro1573Leu) rs1286993730 0.00001
NM_000138.5(FBN1):c.4894C>T (p.Arg1632Cys) rs544990350 0.00001
NM_000138.5(FBN1):c.4926T>C (p.Asp1642=) rs140629 0.00001
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His) rs373320952 0.00001
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=) rs373887214 0.00001
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln) rs759791896 0.00001
NM_000138.5(FBN1):c.5449G>A (p.Val1817Met) rs757901214 0.00001
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His) rs1340155407 0.00001
NM_000138.5(FBN1):c.5464G>A (p.Ala1822Thr) rs777539060 0.00001
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn) rs766358553 0.00001
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile) rs145082616 0.00001
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg) rs993464239 0.00001
NM_000138.5(FBN1):c.5776_5778del (p.Asn1926del) rs886038964 0.00001
NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp) rs956702513 0.00001
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser) rs773486280 0.00001
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) rs773204216 0.00001
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr) rs1316593215 0.00001
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) rs1052480459 0.00001
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His) rs762659907 0.00001
NM_000138.5(FBN1):c.639C>T (p.Val213=) rs543984363 0.00001
NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn) rs746167150 0.00001
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg) rs794728248 0.00001
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser) rs760055383 0.00001
NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp) rs2043050989 0.00001
NM_000138.5(FBN1):c.6601A>G (p.Met2201Val) rs776823384 0.00001
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln) rs780651466 0.00001
NM_000138.5(FBN1):c.6725G>A (p.Arg2242His) rs773084230 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln) rs759696323 0.00001
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys) rs1042807324 0.00001
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu) rs397515844 0.00001
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln) rs199750146 0.00001
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val) rs774698871 0.00001
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu) rs751169871 0.00001
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met) rs138184493 0.00001
NM_000138.5(FBN1):c.796G>A (p.Val266Ile) rs201669595 0.00001
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln) rs200231626 0.00001
NM_000138.5(FBN1):c.8227-3C>T rs200822151 0.00001
NM_000138.5(FBN1):c.826G>A (p.Gly276Arg) rs1220647446 0.00001
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly) rs754570125 0.00001
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) rs371939796 0.00001
NM_000138.5(FBN1):c.862+3A>G rs1555401453 0.00001
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly) rs565078451 0.00001
NM_000246.4(CIITA):c.170C>A (p.Ala57Asp) rs1555500356 0.00001
NM_000246.4(CIITA):c.1939C>T (p.Arg647Cys) rs372705496 0.00001
NM_000246.4(CIITA):c.2375A>T (p.Tyr792Phe) rs1234424650 0.00001
NM_000246.4(CIITA):c.2564C>T (p.Ala855Val) rs760864976 0.00001
NM_000246.4(CIITA):c.2831C>T (p.Ser944Leu) rs750740701 0.00001
NM_000246.4(CIITA):c.631C>T (p.Pro211Ser) rs201764329 0.00001
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382 0.00001
NM_000383.4(AIRE):c.1015A>G (p.Ser339Gly) rs919219488 0.00001
NM_000383.4(AIRE):c.1023G>A (p.Leu341=) rs1352758309 0.00001
NM_000383.4(AIRE):c.1035C>T (p.Val345=) rs1480626384 0.00001
NM_000383.4(AIRE):c.1053G>A (p.Arg351=) rs760115494 0.00001
NM_000383.4(AIRE):c.1063C>A (p.Pro355Thr) rs1405678537 0.00001
NM_000383.4(AIRE):c.1063C>T (p.Pro355Ser) rs1405678537 0.00001
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln) rs752432041 0.00001
NM_000383.4(AIRE):c.1069C>T (p.Pro357Ser) rs200540137 0.00001
NM_000383.4(AIRE):c.1074G>A (p.Gln358=) rs1294643656 0.00001
NM_000383.4(AIRE):c.1095+5G>T rs1057522692 0.00001
NM_000383.4(AIRE):c.1096-16G>A rs374995530 0.00001
NM_000383.4(AIRE):c.1096-1G>A rs780906602 0.00001
NM_000383.4(AIRE):c.1098C>A (p.Leu366=) rs769360966 0.00001
NM_000383.4(AIRE):c.10G>A (p.Asp4Asn) rs1014398252 0.00001
NM_000383.4(AIRE):c.1132A>G (p.Arg378Gly) rs758775963 0.00001
NM_000383.4(AIRE):c.1142C>T (p.Pro381Leu) rs145243072 0.00001
NM_000383.4(AIRE):c.1161C>T (p.Gly387=) rs372895437 0.00001
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672 0.00001
NM_000383.4(AIRE):c.1170G>A (p.Thr390=) rs935084604 0.00001
NM_000383.4(AIRE):c.1179C>T (p.Val393=) rs752897977 0.00001
NM_000383.4(AIRE):c.117C>T (p.Pro39=) rs1033297636 0.00001
NM_000383.4(AIRE):c.1182C>T (p.Tyr394=) rs1482020075 0.00001
NM_000383.4(AIRE):c.118G>C (p.Glu40Gln) rs867495755 0.00001
NM_000383.4(AIRE):c.1194G>A (p.Pro398=) rs375536220 0.00001
NM_000383.4(AIRE):c.1210G>A (p.Ala404Thr) rs1340047804 0.00001
NM_000383.4(AIRE):c.1214C>T (p.Pro405Leu) rs769719554 0.00001
NM_000383.4(AIRE):c.1223G>C (p.Gly408Ala) rs751963717 0.00001
NM_000383.4(AIRE):c.1233C>T (p.Ser411=) rs1446995144 0.00001
NM_000383.4(AIRE):c.1243C>T (p.His415Tyr) rs752398254 0.00001
NM_000383.4(AIRE):c.1246C>T (p.Pro416Ser) rs199621393 0.00001
NM_000383.4(AIRE):c.1248C>G (p.Pro416=) rs74162064 0.00001
NM_000383.4(AIRE):c.1249C>T (p.Leu417=) rs1248107084 0.00001
NM_000383.4(AIRE):c.1271G>A (p.Gly424Asp) rs1208287091 0.00001
NM_000383.4(AIRE):c.1272T>C (p.Gly424=) rs527566053 0.00001
NM_000383.4(AIRE):c.1278+10G>A rs2040561918 0.00001
NM_000383.4(AIRE):c.1278+1G>A rs1184559866 0.00001
NM_000383.4(AIRE):c.1278+6C>T rs372612211 0.00001
NM_000383.4(AIRE):c.1279-20C>T rs1464505488 0.00001
NM_000383.4(AIRE):c.1282C>T (p.Leu428=) rs2040571465 0.00001
NM_000383.4(AIRE):c.1289C>T (p.Pro430Leu) rs751271727 0.00001
NM_000383.4(AIRE):c.1294G>A (p.Ala432Thr) rs1296392334 0.00001
NM_000383.4(AIRE):c.1295C>T (p.Ala432Val) rs531220961 0.00001
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs) rs763695515 0.00001
NM_000383.4(AIRE):c.1311C>T (p.Cys437=) rs771244760 0.00001
NM_000383.4(AIRE):c.132+17C>T rs1234416509 0.00001
NM_000383.4(AIRE):c.1338T>C (p.Cys446=) rs979048802 0.00001
NM_000383.4(AIRE):c.1345T>C (p.Cys449Arg) rs957681340 0.00001
NM_000383.4(AIRE):c.1350C>T (p.Ala450=) rs747182922 0.00001
NM_000383.4(AIRE):c.138G>A (p.Thr46=) rs376741040 0.00001
NM_000383.4(AIRE):c.1392C>A (p.Ser464=) rs759575621 0.00001
NM_000383.4(AIRE):c.1400+17G>A rs772820639 0.00001
NM_000383.4(AIRE):c.1400+19C>T rs368373038 0.00001
NM_000383.4(AIRE):c.1418G>A (p.Arg473Lys) rs750662701 0.00001
NM_000383.4(AIRE):c.1427C>T (p.Ser476Leu) rs754217318 0.00001
NM_000383.4(AIRE):c.1456G>C (p.Gly486Arg) rs749111202 0.00001
NM_000383.4(AIRE):c.1467C>T (p.Ala489=) rs1296834483 0.00001
NM_000383.4(AIRE):c.1480C>T (p.Arg494Cys) rs1465595959 0.00001
NM_000383.4(AIRE):c.1493G>A (p.Gly498Glu) rs1189029187 0.00001
NM_000383.4(AIRE):c.1503+8C>T rs1390347231 0.00001
NM_000383.4(AIRE):c.1503+9C>T rs984302778 0.00001
NM_000383.4(AIRE):c.1504-4C>T rs1314268321 0.00001
NM_000383.4(AIRE):c.1520A>T (p.His507Leu) rs373920616 0.00001
NM_000383.4(AIRE):c.1566+2T>A rs1057516985 0.00001
NM_000383.4(AIRE):c.1567-4G>A rs372099368 0.00001
NM_000383.4(AIRE):c.1617G>A (p.Pro539=) rs769335225 0.00001
NM_000383.4(AIRE):c.1619C>T (p.Ala540Val) rs376731017 0.00001
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) rs386833673 0.00001
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp) rs747941115 0.00001
NM_000383.4(AIRE):c.183C>T (p.Ala61=) rs1471783563 0.00001
NM_000383.4(AIRE):c.1A>G (p.Met1Val) rs121434258 0.00001
NM_000383.4(AIRE):c.1A>T (p.Met1Leu) rs121434258 0.00001
NM_000383.4(AIRE):c.21A>G (p.Leu7=) rs1347611962 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000383.4(AIRE):c.275G>A (p.Arg92Gln) rs1288735234 0.00001
NM_000383.4(AIRE):c.305A>G (p.Lys102Arg) rs777675955 0.00001
NM_000383.4(AIRE):c.308-12C>T rs753353875 0.00001
NM_000383.4(AIRE):c.308-1G>C rs764588340 0.00001
NM_000383.4(AIRE):c.353T>A (p.Val118Asp) rs772511282 0.00001
NM_000383.4(AIRE):c.424G>A (p.Ala142Thr) rs755258600 0.00001
NM_000383.4(AIRE):c.454G>A (p.Ala152Thr) rs771314896 0.00001
NM_000383.4(AIRE):c.459C>T (p.Ser153=) rs997396625 0.00001
NM_000383.4(AIRE):c.463+16G>C rs761329134 0.00001
NM_000383.4(AIRE):c.463+2T>C rs786204478 0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000383.4(AIRE):c.468T>C (p.Ser156=) rs1265020470 0.00001
NM_000383.4(AIRE):c.477G>A (p.Lys159=) rs1192838059 0.00001
NM_000383.4(AIRE):c.489C>A (p.Pro163=) rs1006635868 0.00001
NM_000383.4(AIRE):c.51G>C (p.Glu17Asp) rs1036995518 0.00001
NM_000383.4(AIRE):c.534G>A (p.Gly178=) rs1160671214 0.00001
NM_000383.4(AIRE):c.538+3G>A rs557176517 0.00001
NM_000383.4(AIRE):c.590G>C (p.Gly197Ala) rs1185406745 0.00001
NM_000383.4(AIRE):c.624G>A (p.Gly208=) rs769510002 0.00001
NM_000383.4(AIRE):c.627C>T (p.Ile209=) rs775304437 0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886 0.00001
NM_000383.4(AIRE):c.637C>T (p.Gln213Ter) rs1029475010 0.00001
NM_000383.4(AIRE):c.652+8C>T rs1418632354 0.00001
NM_000383.4(AIRE):c.653-10C>G rs760848364 0.00001
NM_000383.4(AIRE):c.653-5C>T rs771182213 0.00001
NM_000383.4(AIRE):c.653-9T>A rs941927668 0.00001
NM_000383.4(AIRE):c.67G>A (p.Asp23Asn) rs975525470 0.00001
NM_000383.4(AIRE):c.789del (p.Ala264fs) rs387906295 0.00001
NM_000383.4(AIRE):c.794C>T (p.Ala265Val) rs775896896 0.00001
NM_000383.4(AIRE):c.798+5G>A rs1490186498 0.00001
NM_000383.4(AIRE):c.799-7C>T rs1287851004 0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878 0.00001
NM_000383.4(AIRE):c.840C>T (p.Pro280=) rs772423300 0.00001
NM_000383.4(AIRE):c.841G>A (p.Ala281Thr) rs778148534 0.00001
NM_000383.4(AIRE):c.843C>T (p.Ala281=) rs769454980 0.00001
NM_000383.4(AIRE):c.855C>T (p.Leu285=) rs267606152 0.00001
NM_000383.4(AIRE):c.860G>A (p.Ser287Asn) rs375819189 0.00001
NM_000383.4(AIRE):c.891C>T (p.Asp297=) rs527944302 0.00001
NM_000383.4(AIRE):c.892G>A (p.Glu298Lys) rs763636007 0.00001
NM_000383.4(AIRE):c.900C>T (p.Ala300=) rs536338321 0.00001
NM_000383.4(AIRE):c.90C>T (p.His30=) rs754316070 0.00001
NM_000383.4(AIRE):c.939C>T (p.Gly313=) rs2040535317 0.00001
NM_000383.4(AIRE):c.96G>T (p.Leu32=) rs987241240 0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) rs179363885 0.00001
NM_000383.4(AIRE):c.993C>T (p.Pro331=) rs761394248 0.00001
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr) rs1403526456 0.00001
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) rs137853236 0.00001
NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu) rs1391743259 0.00001
NM_000545.8(HNF1A):c.1513C>A (p.His505Asn) rs577078110 0.00001
NM_000545.8(HNF1A):c.153C>T (p.Gly51=) rs761779651 0.00001
NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser) rs200639058 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser) rs759717253 0.00001
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala) rs984428675 0.00001
NM_000545.8(HNF1A):c.1699G>A (p.Val567Ile) rs751368921 0.00001
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr) rs200120574 0.00001
NM_000545.8(HNF1A):c.257T>A (p.Leu86His) rs200442958 0.00001
NM_000545.8(HNF1A):c.608G>A (p.Arg203His) rs587780357 0.00001
NM_000545.8(HNF1A):c.685C>A (p.Arg229=) rs769086289 0.00001
NM_000545.8(HNF1A):c.713+14C>T rs193922601 0.00001
NM_000545.8(HNF1A):c.780G>A (p.Thr260=) rs749633685 0.00001
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr) rs765829022 0.00001
NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu) rs747958319 0.00001
NM_000639.3(FASLG):c.*119G>A rs753021852 0.00001
NM_000639.3(FASLG):c.113G>A (p.Arg38Lys) rs149563384 0.00001
NM_000639.3(FASLG):c.117G>T (p.Arg39Ser) rs373329523 0.00001
NM_000639.3(FASLG):c.119C>T (p.Pro40Leu) rs1256138927 0.00001
NM_000639.3(FASLG):c.170C>T (p.Pro57Leu) rs149883274 0.00001
NM_000639.3(FASLG):c.180G>A (p.Pro60=) rs753980291 0.00001
NM_000639.3(FASLG):c.243G>T (p.Leu81=) rs760651511 0.00001
NM_000639.3(FASLG):c.301A>G (p.Met101Val) rs747496936 0.00001
NM_000639.3(FASLG):c.348+12G>A rs776445206 0.00001
NM_000639.3(FASLG):c.349-45G>T rs778330321 0.00001
NM_000639.3(FASLG):c.395-9A>G rs373975939 0.00001
NM_000639.3(FASLG):c.412C>T (p.Pro138Ser) rs756917304 0.00001
NM_000639.3(FASLG):c.451+8T>A rs372021169 0.00001
NM_000639.3(FASLG):c.452-12G>A rs759351686 0.00001
NM_000639.3(FASLG):c.474G>C (p.Met158Ile) rs888867585 0.00001
NM_000639.3(FASLG):c.503T>A (p.Ile168Asn) rs1291566237 0.00001
NM_000639.3(FASLG):c.561G>A (p.Gly187=) rs1267175575 0.00001
NM_000639.3(FASLG):c.579C>T (p.Ser193=) rs374974805 0.00001
NM_000639.3(FASLG):c.678G>A (p.Glu226=) rs752708760 0.00001
NM_000639.3(FASLG):c.692G>A (p.Ser231Asn) rs758377456 0.00001
NM_000639.3(FASLG):c.740C>A (p.Ala247Glu) rs80358237 0.00001
NM_000639.3(FASLG):c.781G>A (p.Val261Ile) rs201780506 0.00001
NM_000639.3(FASLG):c.829G>A (p.Gly277Ser) rs1413244355 0.00001
NM_001079.4(ZAP70):c.1079G>C (p.Arg360Pro) rs869025224 0.00001
NM_001079.4(ZAP70):c.440C>T (p.Pro147Leu) rs368446882 0.00001
NM_001079.4(ZAP70):c.574C>T (p.Arg192Trp) rs199840952 0.00001
NM_001114753.3(ENG):c.816+6T>C rs759191907 0.00001
NM_001141945.3(ACTA2):c.-24+350G>A rs938458478 0.00001
NM_001228.5(CASP8):c.-26-6994T>C rs905759639 0.00001
NM_001228.5(CASP8):c.-26-8094G>C rs755371396 0.00001
NM_001228.5(CASP8):c.-83T>C rs1275984964 0.00001
NM_001370466.1(NOD2):c.*1200A>G rs980810508 0.00001
NM_001370466.1(NOD2):c.*609C>T rs1965489095 0.00001
NM_001370466.1(NOD2):c.-8-2223G>T rs764563350 0.00001
NM_001370466.1(NOD2):c.-8-2223del rs1213629611 0.00001
NM_001370466.1(NOD2):c.1006A>T (p.Ile336Phe) rs104895470 0.00001
NM_001370466.1(NOD2):c.1070T>A (p.Phe357Tyr) rs777343284 0.00001
NM_001370466.1(NOD2):c.1090C>T (p.Arg364Cys) rs104895481 0.00001
NM_001370466.1(NOD2):c.1091G>A (p.Arg364His) rs554887705 0.00001
NM_001370466.1(NOD2):c.1140C>T (p.Leu380=) rs963957987 0.00001
NM_001370466.1(NOD2):c.1177C>T (p.Arg393Cys) rs367883043 0.00001
NM_001370466.1(NOD2):c.1182G>A (p.Lys394=) rs749142500 0.00001
NM_001370466.1(NOD2):c.118T>C (p.Ser40Pro) rs760962549 0.00001
NM_001370466.1(NOD2):c.1195C>T (p.Arg399Cys) rs545466982 0.00001
NM_001370466.1(NOD2):c.1206T>C (p.Ala402=) rs1205006732 0.00001
NM_001370466.1(NOD2):c.1222A>G (p.Arg408Gly) rs768389547 0.00001
NM_001370466.1(NOD2):c.1230C>T (p.Tyr410=) rs771979324 0.00001
NM_001370466.1(NOD2):c.1276G>A (p.Glu426Lys) rs556728426 0.00001
NM_001370466.1(NOD2):c.1293G>A (p.Lys431=) rs1430003119 0.00001
NM_001370466.1(NOD2):c.1299T>C (p.His433=) rs1964479363 0.00001
NM_001370466.1(NOD2):c.1316C>T (p.Ala439Val) rs776802746 0.00001
NM_001370466.1(NOD2):c.1332C>T (p.Arg444=) rs770712938 0.00001
NM_001370466.1(NOD2):c.1354C>T (p.Leu452=) rs898706797 0.00001
NM_001370466.1(NOD2):c.1359C>T (p.His453=) rs753323790 0.00001
NM_001370466.1(NOD2):c.1413A>C (p.Glu471Asp) rs1361409611 0.00001
NM_001370466.1(NOD2):c.1428G>A (p.Glu476=) rs104895434 0.00001
NM_001370466.1(NOD2):c.1459T>C (p.Tyr487His) rs540122692 0.00001
NM_001370466.1(NOD2):c.1478A>G (p.His493Arg) rs757269951 0.00001
NM_001370466.1(NOD2):c.1492G>A (p.Ala498Thr) rs1283801598 0.00001
NM_001370466.1(NOD2):c.1500C>G (p.Pro500=) rs104895435 0.00001
NM_001370466.1(NOD2):c.1530C>T (p.Pro510=) rs750399794 0.00001
NM_001370466.1(NOD2):c.1563G>A (p.Leu521=) rs369085294 0.00001
NM_001370466.1(NOD2):c.1602C>T (p.Cys534=) rs1248700534 0.00001
NM_001370466.1(NOD2):c.1609G>A (p.Val537Met) rs760678831 0.00001
NM_001370466.1(NOD2):c.1677G>T (p.Val559=) rs369719210 0.00001
NM_001370466.1(NOD2):c.1755G>A (p.Ala585=) rs756626309 0.00001
NM_001370466.1(NOD2):c.1765G>A (p.Ala589Thr) rs747674172 0.00001
NM_001370466.1(NOD2):c.179G>A (p.Arg60His) rs983465914 0.00001
NM_001370466.1(NOD2):c.1802A>G (p.His601Arg) rs746653187 0.00001
NM_001370466.1(NOD2):c.1848C>T (p.Leu616=) rs764199623 0.00001
NM_001370466.1(NOD2):c.185T>A (p.Leu62Gln) rs1286052486 0.00001
NM_001370466.1(NOD2):c.1879G>A (p.Gly627Arg) rs777290315 0.00001
NM_001370466.1(NOD2):c.188A>T (p.Asp63Val) rs747221457 0.00001
NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro) rs369957746 0.00001
NM_001370466.1(NOD2):c.1906C>T (p.Leu636=) rs762922997 0.00001
NM_001370466.1(NOD2):c.1929C>T (p.Asn643=) rs104895475 0.00001
NM_001370466.1(NOD2):c.1957G>A (p.Gly653Arg) rs371339573 0.00001
NM_001370466.1(NOD2):c.198G>A (p.Trp66Ter) rs761449474 0.00001
NM_001370466.1(NOD2):c.2029C>T (p.Gln677Ter) rs755721919 0.00001
NM_001370466.1(NOD2):c.2046G>A (p.Trp682Ter) rs776701942 0.00001
NM_001370466.1(NOD2):c.2079C>T (p.His693=) rs755568125 0.00001
NM_001370466.1(NOD2):c.2082C>T (p.Ser694=) rs766123432 0.00001
NM_001370466.1(NOD2):c.2150G>A (p.Arg717Gln) rs751849531 0.00001
NM_001370466.1(NOD2):c.2161G>A (p.Glu721Lys) rs757403209 0.00001
NM_001370466.1(NOD2):c.2176C>T (p.Arg726Trp) rs749720540 0.00001
NM_001370466.1(NOD2):c.2181G>A (p.Leu727=) rs199475915 0.00001
NM_001370466.1(NOD2):c.2192C>T (p.Ala731Val) rs104895442 0.00001
NM_001370466.1(NOD2):c.2197C>T (p.Arg733Cys) rs3813758 0.00001
NM_001370466.1(NOD2):c.220C>G (p.Gln74Glu) rs753619374 0.00001
NM_001370466.1(NOD2):c.2297T>C (p.Val766Ala) rs1200152449 0.00001
NM_001370466.1(NOD2):c.22C>T (p.Gln8Ter) rs1567380372 0.00001
NM_001370466.1(NOD2):c.2304G>C (p.Leu768=) rs1164125645 0.00001
NM_001370466.1(NOD2):c.231C>T (p.Ile77=) rs778843858 0.00001
NM_001370466.1(NOD2):c.2338G>A (p.Val780Met) rs748522514 0.00001
NM_001370466.1(NOD2):c.2353C>T (p.Pro785Ser) rs746692864 0.00001
NM_001370466.1(NOD2):c.2387G>A (p.Arg796His) rs768930237 0.00001
NM_001370466.1(NOD2):c.2390A>G (p.Asp797Gly) rs778481419 0.00001
NM_001370466.1(NOD2):c.2413A>T (p.Ile805Phe) rs765335094 0.00001
NM_001370466.1(NOD2):c.2427T>C (p.Ile809=) rs764369783 0.00001
NM_001370466.1(NOD2):c.2434G>T (p.Ala812Ser) rs757680896 0.00001
NM_001370466.1(NOD2):c.2443T>C (p.Cys815Arg) rs146313066 0.00001
NM_001370466.1(NOD2):c.2444G>A (p.Cys815Tyr) rs754471017 0.00001
NM_001370466.1(NOD2):c.2445C>T (p.Cys815=) rs778447050 0.00001
NM_001370466.1(NOD2):c.2534A>G (p.Asn845Ser) rs201806207 0.00001
NM_001370466.1(NOD2):c.2550-19C>G rs545121947 0.00001
NM_001370466.1(NOD2):c.2553G>A (p.Leu851=) rs1283225496 0.00001
NM_001370466.1(NOD2):c.2575G>A (p.Ala859Thr) rs376366287 0.00001
NM_001370466.1(NOD2):c.2576C>T (p.Ala859Val) rs565200911 0.00001
NM_001370466.1(NOD2):c.2596G>A (p.Glu866Lys) rs201884393 0.00001
NM_001370466.1(NOD2):c.2605C>T (p.Arg869Ter) rs769101191 0.00001
NM_001370466.1(NOD2):c.2618C>T (p.Ser873Phe) rs199552944 0.00001
NM_001370466.1(NOD2):c.2619C>T (p.Ser873=) rs759227592 0.00001
NM_001370466.1(NOD2):c.2634-75G>A rs104895466 0.00001
NM_001370466.1(NOD2):c.2654G>C (p.Gly885Ala) rs779300567 0.00001
NM_001370466.1(NOD2):c.2659G>A (p.Glu887Lys) rs758913334 0.00001
NM_001370466.1(NOD2):c.2719C>G (p.Leu907Val) rs771833402 0.00001
NM_001370466.1(NOD2):c.2721G>A (p.Leu907=) rs149691662 0.00001
NM_001370466.1(NOD2):c.273G>A (p.Lys91=) rs766071199 0.00001
NM_001370466.1(NOD2):c.278A>G (p.His93Arg) rs959869589 0.00001
NM_001370466.1(NOD2):c.2801+18T>C rs986964282 0.00001
NM_001370466.1(NOD2):c.2816A>G (p.His939Arg) rs189453919 0.00001
NM_001370466.1(NOD2):c.2828A>G (p.Glu943Gly) rs371389581 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.2929C>G (p.Leu977Val) rs772487940 0.00001
NM_001370466.1(NOD2):c.2931G>A (p.Leu977=) rs773388366 0.00001
NM_001370466.1(NOD2):c.2935G>C (p.Ala979Pro) rs199883290 0.00001
NM_001370466.1(NOD2):c.2938C>T (p.Leu980Phe) rs761083670 0.00001
NM_001370466.1(NOD2):c.295C>G (p.His99Asp) rs781448444 0.00001
NM_001370466.1(NOD2):c.2970-102C>G rs104895458 0.00001
NM_001370466.1(NOD2):c.2971C>T (p.Leu991Phe) rs146435555 0.00001
NM_001370466.1(NOD2):c.3011T>A (p.Leu1004His) rs1451481984 0.00001
NM_001370466.1(NOD2):c.314G>A (p.Arg105Gln) rs781540619 0.00001
NM_001370466.1(NOD2):c.323A>G (p.Gln108Arg) rs770240116 0.00001
NM_001370466.1(NOD2):c.334C>T (p.Pro112Ser) rs749841667 0.00001
NM_001370466.1(NOD2):c.394C>T (p.Arg132Trp) rs562557464 0.00001
NM_001370466.1(NOD2):c.395G>A (p.Arg132Gln) rs150996156 0.00001
NM_001370466.1(NOD2):c.42G>C (p.Leu14=) rs1963825955 0.00001
NM_001370466.1(NOD2):c.435G>C (p.Leu145Phe) rs1292846110 0.00001
NM_001370466.1(NOD2):c.438G>A (p.Pro146=) rs77153279 0.00001
NM_001370466.1(NOD2):c.449C>T (p.Pro150Leu) rs144368009 0.00001
NM_001370466.1(NOD2):c.461C>A (p.Ala154Glu) rs141414002 0.00001
NM_001370466.1(NOD2):c.50T>A (p.Leu17Gln) rs757914381 0.00001
NM_001370466.1(NOD2):c.516T>C (p.Leu172=) rs201115206 0.00001
NM_001370466.1(NOD2):c.519A>G (p.Leu173=) rs778078737 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_001370466.1(NOD2):c.565+4G>A rs776802652 0.00001
NM_001370466.1(NOD2):c.566-7C>T rs750917301 0.00001
NM_001370466.1(NOD2):c.600G>A (p.Arg200=) rs777458605 0.00001
NM_001370466.1(NOD2):c.658T>C (p.Cys220Arg) rs764675751 0.00001
NM_001370466.1(NOD2):c.659G>T (p.Cys220Phe) rs752210177 0.00001
NM_001370466.1(NOD2):c.678A>T (p.Thr226=) rs781099046 0.00001
NM_001370466.1(NOD2):c.841C>T (p.Leu281Phe) rs1267341301 0.00001
NM_001370466.1(NOD2):c.851G>A (p.Arg284Gln) rs778995814 0.00001
NM_001370466.1(NOD2):c.917G>A (p.Cys306Tyr) rs1307391583 0.00001
NM_001370466.1(NOD2):c.955C>T (p.Arg319Trp) rs753537879 0.00001
NM_001370466.1(NOD2):c.986C>T (p.Pro329Leu) rs201107567 0.00001
NM_001372051.1(CASP8):c.*194T>A rs577963682 0.00001
NM_001372051.1(CASP8):c.*304C>T rs886055433 0.00001
NM_001372051.1(CASP8):c.1001A>G (p.Tyr334Cys) rs772661314 0.00001
NM_001372051.1(CASP8):c.1012T>G (p.Ser338Ala) rs771197994 0.00001
NM_001372051.1(CASP8):c.1038T>C (p.Pro346=) rs768360449 0.00001
NM_001372051.1(CASP8):c.1132C>A (p.Gln378Lys) rs1164535571 0.00001
NM_001372051.1(CASP8):c.1158A>G (p.Ser386=) rs773959767 0.00001
NM_001372051.1(CASP8):c.1165C>T (p.Gln389Ter) rs747862347 0.00001
NM_001372051.1(CASP8):c.1201C>T (p.Leu401=) rs752967014 0.00001
NM_001372051.1(CASP8):c.1215T>C (p.Thr405=) rs764213462 0.00001
NM_001372051.1(CASP8):c.1304+9_1304+96del rs1576390913 0.00001
NM_001372051.1(CASP8):c.1307G>A (p.Gly436Asp) rs1235505270 0.00001
NM_001372051.1(CASP8):c.195G>A (p.Leu65=) rs1304411859 0.00001
NM_001372051.1(CASP8):c.234C>T (p.Tyr78=) rs770724721 0.00001
NM_001372051.1(CASP8):c.251A>G (p.Glu84Gly) rs1292450812 0.00001
NM_001372051.1(CASP8):c.260A>G (p.Glu87Gly) rs763043263 0.00001
NM_001372051.1(CASP8):c.267A>G (p.Glu89=) rs1415027065 0.00001
NM_001372051.1(CASP8):c.286G>T (p.Ala96Ser) rs762297913 0.00001
NM_001372051.1(CASP8):c.289C>A (p.Gln97Lys) rs1489585227 0.00001
NM_001372051.1(CASP8):c.306-1911G>A rs796850798 0.00001
NM_001372051.1(CASP8):c.306-1993C>T rs773675844 0.00001
NM_001372051.1(CASP8):c.306-2014C>T rs574310665 0.00001
NM_001372051.1(CASP8):c.306-2017G>T rs1487695452 0.00001
NM_001372051.1(CASP8):c.311T>C (p.Met104Thr) rs1387029323 0.00001
NM_001372051.1(CASP8):c.399G>A (p.Leu133=) rs150515363 0.00001
NM_001372051.1(CASP8):c.411+1G>C rs1948252170 0.00001
NM_001372051.1(CASP8):c.411+7C>T rs1158042987 0.00001
NM_001372051.1(CASP8):c.411+9del rs1948253453 0.00001
NM_001372051.1(CASP8):c.412-7C>T rs1264825227 0.00001
NM_001372051.1(CASP8):c.414C>T (p.Asn138=) rs746428268 0.00001
NM_001372051.1(CASP8):c.465A>G (p.Gly155=) rs1224509970 0.00001
NM_001372051.1(CASP8):c.469T>C (p.Leu157=) rs759581547 0.00001
NM_001372051.1(CASP8):c.596-12C>T rs756817274 0.00001
NM_001372051.1(CASP8):c.603G>C (p.Glu201Asp) rs553241803 0.00001
NM_001372051.1(CASP8):c.660+7G>A rs766429077 0.00001
NM_001372051.1(CASP8):c.697C>T (p.Arg233Trp) rs760898260 0.00001
NM_001372051.1(CASP8):c.741A>G (p.Ala247=) rs776036102 0.00001
NM_001372051.1(CASP8):c.742C>T (p.Arg248Trp) rs17860424 0.00001
NM_001372051.1(CASP8):c.778A>G (p.Arg260Gly) rs1350639573 0.00001
NM_001372051.1(CASP8):c.802+4C>A rs746813867 0.00001
NM_001372051.1(CASP8):c.819C>T (p.Thr273=) rs1369950873 0.00001
NM_001372051.1(CASP8):c.84C>T (p.Asp28=) rs368413113 0.00001
NM_001372051.1(CASP8):c.92C>T (p.Pro31Leu) rs748087575 0.00001
NM_001372051.1(CASP8):c.969C>T (p.Ile323=) rs1447639128 0.00001
NM_001378687.1(ATP2C1):c.*1203del rs886057988 0.00001
NM_001378687.1(ATP2C1):c.*1204A>T rs886057989 0.00001
NM_001378687.1(ATP2C1):c.*1264T>C rs886057992 0.00001
NM_001378687.1(ATP2C1):c.*609A>G rs1198664761 0.00001
NM_001378687.1(ATP2C1):c.*881A>G rs181188000 0.00001
NM_001378687.1(ATP2C1):c.*946T>G rs886057987 0.00001
NM_001378687.1(ATP2C1):c.-180-72G>A rs951311479 0.00001
NM_001378687.1(ATP2C1):c.-33T>C rs201306089 0.00001
NM_001378687.1(ATP2C1):c.-66C>T rs886057979 0.00001
NM_001378687.1(ATP2C1):c.1181A>G (p.His394Arg) rs1329817993 0.00001
NM_001378687.1(ATP2C1):c.2126+1G>A rs748204512 0.00001
NM_001378687.1(ATP2C1):c.2232C>A (p.Pro744=) rs761270371 0.00001
NM_001378687.1(ATP2C1):c.532-6C>T rs886057981 0.00001
NM_001378687.1(ATP2C1):c.874C>G (p.Leu292Val) rs1349846001 0.00001
NM_001378687.1(ATP2C1):c.899+6T>C rs1430775611 0.00001
NM_001715.3(BLK):c.301G>A (p.Val101Ile) rs371256341 0.00001
NM_001715.3(BLK):c.392G>A (p.Arg131Gln) rs144615291 0.00001
NM_002296.4(LBR):c.1366C>G (p.Leu456Val) rs377110126 0.00001
NM_002296.4(LBR):c.860T>C (p.Ile287Thr) rs201093644 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_004944.4(DNASE1L3):c.115A>G (p.Lys39Glu) rs1456163008 0.00001
NM_004944.4(DNASE1L3):c.304T>C (p.Tyr102His) rs1397140992 0.00001
NM_004944.4(DNASE1L3):c.320+17C>A rs376951611 0.00001
NM_004944.4(DNASE1L3):c.359A>G (p.His120Arg) rs1282131721 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_005214.5(CTLA4):c.110-7A>G rs200180357 0.00001
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln) rs1581573705 0.00001
NM_005214.5(CTLA4):c.211G>T (p.Val71Leu) rs1347670398 0.00001
NM_005214.5(CTLA4):c.216A>G (p.Thr72=) rs199943943 0.00001
NM_005214.5(CTLA4):c.219G>C (p.Val73=) rs866679318 0.00001
NM_005214.5(CTLA4):c.223C>T (p.Arg75Trp) rs1688714312 0.00001
NM_005214.5(CTLA4):c.265T>C (p.Tyr89His) rs1403336336 0.00001
NM_005214.5(CTLA4):c.311C>T (p.Thr104Met) rs759232662 0.00001
NM_005214.5(CTLA4):c.352G>C (p.Gly118Arg) rs764089901 0.00001
NM_005214.5(CTLA4):c.371C>T (p.Thr124Met) rs757773669 0.00001
NM_005214.5(CTLA4):c.384C>G (p.Ile128Met) rs750841862 0.00001
NM_005214.5(CTLA4):c.42C>T (p.Asn14=) rs376591332 0.00001
NM_005214.5(CTLA4):c.467C>T (p.Pro156Leu) rs756706504 0.00001
NM_005214.5(CTLA4):c.501T>C (p.Leu167=) rs749059847 0.00001
NM_005214.5(CTLA4):c.515C>T (p.Ser172Leu) rs963824682 0.00001
NM_005214.5(CTLA4):c.553T>A (p.Ser185Thr) rs773775010 0.00001
NM_005214.5(CTLA4):c.619A>G (p.Thr207Ala) rs1278638729 0.00001
NM_005214.5(CTLA4):c.626C>G (p.Pro209Arg) rs778534474 0.00001
NM_005214.5(CTLA4):c.62C>G (p.Pro21Arg) rs1041117695 0.00001
NM_005214.5(CTLA4):c.63C>T (p.Pro21=) rs1290173158 0.00001
NM_005214.5(CTLA4):c.87C>T (p.Leu29=) rs145950656 0.00001
NM_006254.4(PRKCD):c.1036A>G (p.Ile346Val) rs1434557148 0.00001
NM_006254.4(PRKCD):c.1051T>G (p.Phe351Val) rs782444193 0.00001
NM_006254.4(PRKCD):c.1086+9T>C rs1486351156 0.00001
NM_006254.4(PRKCD):c.1123T>G (p.Phe375Val) rs1003630344 0.00001
NM_006254.4(PRKCD):c.115+9G>A rs782712864 0.00001
NM_006254.4(PRKCD):c.1176G>A (p.Glu392=) rs782735766 0.00001
NM_006254.4(PRKCD):c.1184T>C (p.Met395Thr) rs1010140622 0.00001
NM_006254.4(PRKCD):c.1231A>G (p.Thr411Ala) rs1553669078 0.00001
NM_006254.4(PRKCD):c.1260+16G>C rs1553669090 0.00001
NM_006254.4(PRKCD):c.1353-20T>C rs1553669452 0.00001
NM_006254.4(PRKCD):c.1376G>A (p.Cys459Tyr) rs1553669478 0.00001
NM_006254.4(PRKCD):c.140A>G (p.Lys47Arg) rs1553666756 0.00001
NM_006254.4(PRKCD):c.1448G>A (p.Arg483Gln) rs879255393 0.00001
NM_006254.4(PRKCD):c.1501G>T (p.Gly501Trp) rs782726901 0.00001
NM_006254.4(PRKCD):c.1554+12C>T rs201210965 0.00001
NM_006254.4(PRKCD):c.1555-5G>A rs782208259 0.00001
NM_006254.4(PRKCD):c.1635G>A (p.Gln545=) rs782122153 0.00001
NM_006254.4(PRKCD):c.1672G>A (p.Glu558Lys) rs1575544853 0.00001
NM_006254.4(PRKCD):c.1726A>G (p.Lys576Glu) rs782371398 0.00001
NM_006254.4(PRKCD):c.1727A>G (p.Lys576Arg) rs782006621 0.00001
NM_006254.4(PRKCD):c.1744C>T (p.Leu582Phe) rs781964037 0.00001
NM_006254.4(PRKCD):c.1791C>A (p.Ile597=) rs782819653 0.00001
NM_006254.4(PRKCD):c.1840C>T (p.Arg614Trp) rs606231297 0.00001
NM_006254.4(PRKCD):c.1844G>T (p.Arg615Met) rs74838104 0.00001
NM_006254.4(PRKCD):c.1941C>T (p.Ser647=) rs781997779 0.00001
NM_006254.4(PRKCD):c.1942G>A (p.Asp648Asn) rs1305829710 0.00001
NM_006254.4(PRKCD):c.1957G>A (p.Asp653Asn) rs781914241 0.00001
NM_006254.4(PRKCD):c.195G>C (p.Glu65Asp) rs1196790794 0.00001
NM_006254.4(PRKCD):c.2002C>T (p.Pro668Ser) rs148364495 0.00001
NM_006254.4(PRKCD):c.21C>T (p.Ile7=) rs373946656 0.00001
NM_006254.4(PRKCD):c.225G>C (p.Arg75=) rs781815061 0.00001
NM_006254.4(PRKCD):c.22G>A (p.Ala8Thr) rs368029897 0.00001
NM_006254.4(PRKCD):c.243G>C (p.Val81=) rs782530190 0.00001
NM_006254.4(PRKCD):c.256G>A (p.Val86Met) rs782298081 0.00001
NM_006254.4(PRKCD):c.264G>T (p.Val88=) rs782433548 0.00001
NM_006254.4(PRKCD):c.268G>A (p.Val90Met) rs1015113720 0.00001
NM_006254.4(PRKCD):c.276C>T (p.Ala92=) rs782352450 0.00001
NM_006254.4(PRKCD):c.297T>A (p.Asn99Lys) rs561142814 0.00001
NM_006254.4(PRKCD):c.377-10T>C rs782061483 0.00001
NM_006254.4(PRKCD):c.384A>G (p.Lys128=) rs1339098133 0.00001
NM_006254.4(PRKCD):c.394C>T (p.Arg132Cys) rs375221270 0.00001
NM_006254.4(PRKCD):c.492C>A (p.Thr164=) rs187146419 0.00001
NM_006254.4(PRKCD):c.531C>G (p.Asp177Glu) rs1240610213 0.00001
NM_006254.4(PRKCD):c.540-18C>T rs75301864 0.00001
NM_006254.4(PRKCD):c.549C>A (p.Asn183Lys) rs1378624159 0.00001
NM_006254.4(PRKCD):c.567C>T (p.Cys189=) rs150667829 0.00001
NM_006254.4(PRKCD):c.580G>A (p.Ala194Thr) rs782475090 0.00001
NM_006254.4(PRKCD):c.584C>T (p.Ala195Val) rs977894332 0.00001
NM_006254.4(PRKCD):c.5C>T (p.Ala2Val) rs781958692 0.00001
NM_006254.4(PRKCD):c.615C>T (p.Ile205=) rs782677594 0.00001
NM_006254.4(PRKCD):c.616G>A (p.Gly206Ser) rs957946153 0.00001
NM_006254.4(PRKCD):c.631A>T (p.Thr211Ser) rs1252661978 0.00001
NM_006254.4(PRKCD):c.635C>T (p.Ala212Val) rs782237403 0.00001
NM_006254.4(PRKCD):c.64G>A (p.Glu22Lys) rs1553666417 0.00001
NM_006254.4(PRKCD):c.652A>G (p.Thr218Ala) rs1311722771 0.00001
NM_006254.4(PRKCD):c.678C>T (p.Asn226=) rs78938657 0.00001
NM_006254.4(PRKCD):c.729C>T (p.Phe243=) rs782340381 0.00001
NM_006254.4(PRKCD):c.742G>A (p.Gly248Ser) rs144320413 0.00001
NM_006254.4(PRKCD):c.788-2A>G rs1295207359 0.00001
NM_006254.4(PRKCD):c.792C>T (p.Cys264=) rs1553668629 0.00001
NM_006254.4(PRKCD):c.793G>A (p.Gly265Ser) rs373245386 0.00001
NM_006254.4(PRKCD):c.869C>T (p.Ala290Val) rs1186631774 0.00001
NM_006254.4(PRKCD):c.884C>T (p.Thr295Ile) rs782223934 0.00001
NM_006254.4(PRKCD):c.890G>A (p.Arg297Lys) rs782243565 0.00001
NM_006254.4(PRKCD):c.894C>T (p.Ala298=) rs782394276 0.00001
NM_006254.4(PRKCD):c.925C>G (p.Pro309Ala) rs1703647874 0.00001
NM_006254.4(PRKCD):c.928G>A (p.Val310Ile) rs773144753 0.00001
NM_006254.4(PRKCD):c.985+10G>T rs781842377 0.00001
NM_006254.4(PRKCD):c.991A>G (p.Ser331Gly) rs140359417 0.00001
NM_006254.4(PRKCD):c.9G>A (p.Pro3=) rs1354110835 0.00001
NM_007315.4(STAT1):c.1011A>G (p.Thr337=) rs763252598 0.00001
NM_007315.4(STAT1):c.1011_1012del (p.Val339fs) rs768767763 0.00001
NM_007315.4(STAT1):c.1038-3C>T rs374148252 0.00001
NM_007315.4(STAT1):c.1060C>T (p.Leu354=) rs1224130066 0.00001
NM_007315.4(STAT1):c.1086C>T (p.Val362=) rs1422113035 0.00001
NM_007315.4(STAT1):c.1097+3A>G rs1225283533 0.00001
NM_007315.4(STAT1):c.1097+6A>G rs1485704994 0.00001
NM_007315.4(STAT1):c.1098-13A>T rs45527832 0.00001
NM_007315.4(STAT1):c.1117A>T (p.Thr373Ser) rs768434440 0.00001
NM_007315.4(STAT1):c.1127+18C>T rs190749206 0.00001
NM_007315.4(STAT1):c.1221+11C>A rs1033197461 0.00001
NM_007315.4(STAT1):c.1222-3T>C rs886055379 0.00001
NM_007315.4(STAT1):c.1233A>G (p.Glu411=) rs201555918 0.00001
NM_007315.4(STAT1):c.1272C>T (p.Leu424=) rs777989690 0.00001
NM_007315.4(STAT1):c.1275C>T (p.Ile425=) rs373080372 0.00001
NM_007315.4(STAT1):c.1276G>A (p.Val426Ile) rs143182587 0.00001
NM_007315.4(STAT1):c.1317G>A (p.Leu439=) rs1027635150 0.00001
NM_007315.4(STAT1):c.1336A>G (p.Ile446Val) rs1313271807 0.00001
NM_007315.4(STAT1):c.1344C>T (p.Leu448=) rs773084786 0.00001
NM_007315.4(STAT1):c.1348-19G>A rs1328692797 0.00001
NM_007315.4(STAT1):c.1348A>G (p.Thr450Ala) rs1364125268 0.00001
NM_007315.4(STAT1):c.1392C>T (p.Leu464=) rs761609728 0.00001
NM_007315.4(STAT1):c.1395G>A (p.Pro465=) rs774119065 0.00001
NM_007315.4(STAT1):c.1398C>T (p.Ser466=) rs763759889 0.00001
NM_007315.4(STAT1):c.1399G>A (p.Gly467Ser) rs762390015 0.00001
NM_007315.4(STAT1):c.1447-8C>G rs769967623 0.00001
NM_007315.4(STAT1):c.1544A>G (p.Asn515Ser) rs190269533 0.00001
NM_007315.4(STAT1):c.1583-6G>T rs764896742 0.00001
NM_007315.4(STAT1):c.1619C>T (p.Thr540Met) rs753414973 0.00001
NM_007315.4(STAT1):c.1633-10A>G rs200571234 0.00001
NM_007315.4(STAT1):c.1727+10A>G rs1429277615 0.00001
NM_007315.4(STAT1):c.1765G>T (p.Ala589Ser) rs745491762 0.00001
NM_007315.4(STAT1):c.1874-11C>T rs749737547 0.00001
NM_007315.4(STAT1):c.2003A>T (p.Tyr668Phe) rs771679419 0.00001
NM_007315.4(STAT1):c.2139C>T (p.His713=) rs761039891 0.00001
NM_007315.4(STAT1):c.2196C>T (p.Asp732=) rs778900428 0.00001
NM_007315.4(STAT1):c.2229C>T (p.Phe743=) rs749333159 0.00001
NM_007315.4(STAT1):c.2239-16T>C rs966938422 0.00001
NM_007315.4(STAT1):c.274-3T>C rs777002134 0.00001
NM_007315.4(STAT1):c.318C>T (p.Tyr106=) rs778063346 0.00001
NM_007315.4(STAT1):c.368A>G (p.Asn123Ser) rs778751233 0.00001
NM_007315.4(STAT1):c.372+12del rs1371149318 0.00001
NM_007315.4(STAT1):c.420A>G (p.Lys140=) rs755882174 0.00001
NM_007315.4(STAT1):c.426T>C (p.Leu142=) rs183788866 0.00001
NM_007315.4(STAT1):c.463-14A>G rs777203610 0.00001
NM_007315.4(STAT1):c.463-4G>T rs367840028 0.00001
NM_007315.4(STAT1):c.478A>C (p.Ile160Leu) rs371548986 0.00001
NM_007315.4(STAT1):c.541+4A>G rs763122792 0.00001
NM_007315.4(STAT1):c.541+7G>T rs981229725 0.00001
NM_007315.4(STAT1):c.542-7T>C rs538885747 0.00001
NM_007315.4(STAT1):c.554A>G (p.Asn185Ser) rs1051397529 0.00001
NM_007315.4(STAT1):c.579A>G (p.Lys193=) rs370337308 0.00001
NM_007315.4(STAT1):c.743T>C (p.Ile248Thr) rs779371351 0.00001
NM_007315.4(STAT1):c.75T>C (p.Ser25=) rs1306695738 0.00001
NM_007315.4(STAT1):c.861C>T (p.Tyr287=) rs888084670 0.00001
NM_007315.4(STAT1):c.882C>T (p.Ile294=) rs999631915 0.00001
NM_007315.4(STAT1):c.944+4A>G rs774979554 0.00001
NM_007315.4(STAT1):c.987T>G (p.Pro329=) rs1187374790 0.00001
NM_014009.4(FOXP3):c.1032G>A (p.Thr344=) rs781905807 0.00001
NM_014009.4(FOXP3):c.1045-13C>T rs781966644 0.00001
NM_014009.4(FOXP3):c.1073G>A (p.Arg358Gln) rs1428528910 0.00001
NM_014009.4(FOXP3):c.119G>A (p.Gly40Asp) rs781805416 0.00001
NM_014009.4(FOXP3):c.124G>A (p.Gly42Arg) rs782178764 0.00001
NM_014009.4(FOXP3):c.130A>G (p.Thr44Ala) rs782474624 0.00001
NM_014009.4(FOXP3):c.200C>T (p.Ser67Leu) rs1382549860 0.00001
NM_014009.4(FOXP3):c.211-20C>A rs781982592 0.00001
NM_014009.4(FOXP3):c.247G>A (p.Gly83Arg) rs868911396 0.00001
NM_014009.4(FOXP3):c.315+8C>T rs782558220 0.00001
NM_014009.4(FOXP3):c.508A>G (p.Thr170Ala) rs782694663 0.00001
NM_014009.4(FOXP3):c.552G>A (p.Ser184=) rs782085584 0.00001
NM_014009.4(FOXP3):c.597C>T (p.Cys199=) rs782377881 0.00001
NM_014009.4(FOXP3):c.625G>A (p.Glu209Lys) rs143048239 0.00001
NM_014009.4(FOXP3):c.631C>G (p.Pro211Ala) rs374109896 0.00001
NM_014009.4(FOXP3):c.647+16C>T rs2066075855 0.00001
NM_014009.4(FOXP3):c.648-15C>T rs1183403474 0.00001
NM_014009.4(FOXP3):c.711G>A (p.Glu237=) rs1557116204 0.00001
NM_014009.4(FOXP3):c.805G>A (p.Ala269Thr) rs781999579 0.00001
NM_014009.4(FOXP3):c.817-9C>T rs1166432395 0.00001
NM_014009.4(FOXP3):c.959C>A (p.Thr320Lys) rs781881326 0.00001
NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys) rs962672070 0.00001
NM_015474.4(SAMHD1):c.1444A>G (p.Ser482Gly) rs1451618642 0.00001
NM_015474.4(SAMHD1):c.144G>A (p.Glu48=) rs140157384 0.00001
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=) rs1448113794 0.00001
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn) rs761596589 0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517 0.00001
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter) rs1335417539 0.00001
NM_015474.4(SAMHD1):c.840C>T (p.Val280=) rs17853622 0.00001
NM_031157.4(HNRNPA1):c.949A>G (p.Asn317Asp) rs483353023 0.00001
NM_032977.4(CASP10):c.*1395G>A rs747068686 0.00001
NM_032977.4(CASP10):c.*3019C>T rs548104022 0.00001
NM_032977.4(CASP10):c.*333C>T rs886055407 0.00001
NM_032977.4(CASP10):c.*3473T>G rs886055430 0.00001
NM_032977.4(CASP10):c.*657G>C rs886055408 0.00001
NM_032977.4(CASP10):c.*740T>G rs1657316373 0.00001
NM_032977.4(CASP10):c.*905C>T rs886055411 0.00001
NM_032977.4(CASP10):c.1038C>T (p.Ala346=) rs745897610 0.00001
NM_032977.4(CASP10):c.1041C>T (p.Asp347=) rs1326342299 0.00001
NM_032977.4(CASP10):c.1060T>C (p.Cys354Arg) rs1233007817 0.00001
NM_032977.4(CASP10):c.1100C>T (p.Ser367Leu) rs774726645 0.00001
NM_032977.4(CASP10):c.1113C>T (p.Leu371=) rs1400007183 0.00001
NM_032977.4(CASP10):c.1159C>G (p.Pro387Ala) rs759782468 0.00001
NM_032977.4(CASP10):c.1197G>T (p.Gln399His) rs199626441 0.00001
NM_032977.4(CASP10):c.1227C>T (p.Ser409=) rs371401141 0.00001
NM_032977.4(CASP10):c.1283A>G (p.Asp428Gly) rs775030613 0.00001
NM_032977.4(CASP10):c.1288A>T (p.Ile430Phe) rs762718326 0.00001
NM_032977.4(CASP10):c.1348C>T (p.Arg450Trp) rs758842495 0.00001
NM_032977.4(CASP10):c.1395T>C (p.His465=) rs199853584 0.00001
NM_032977.4(CASP10):c.1415+2T>C rs574742344 0.00001
NM_032977.4(CASP10):c.1416-17T>A rs1421515205 0.00001
NM_032977.4(CASP10):c.142C>T (p.Pro48Ser) rs200012872 0.00001
NM_032977.4(CASP10):c.1453G>A (p.Asp485Asn) rs758187673 0.00001
NM_032977.4(CASP10):c.146A>G (p.Asn49Ser) rs559658034 0.00001
NM_032977.4(CASP10):c.1558C>T (p.Leu520Phe) rs571838418 0.00001
NM_032977.4(CASP10):c.1567T>C (p.Ter523Gln) rs1465277007 0.00001
NM_032977.4(CASP10):c.208C>G (p.Leu70Val) rs1944402071 0.00001
NM_032977.4(CASP10):c.226C>A (p.Pro76Thr) rs146696981 0.00001
NM_032977.4(CASP10):c.234C>T (p.Phe78=) rs1332559719 0.00001
NM_032977.4(CASP10):c.258A>G (p.Ile86Met) rs1324259879 0.00001
NM_032977.4(CASP10):c.311G>A (p.Arg104Gln) rs748398291 0.00001
NM_032977.4(CASP10):c.332G>C (p.Arg111Thr) rs199600895 0.00001
NM_032977.4(CASP10):c.335T>C (p.Val112Ala) rs770155279 0.00001
NM_032977.4(CASP10):c.360C>T (p.Tyr120=) rs776326308 0.00001
NM_032977.4(CASP10):c.390C>T (p.Asn130=) rs1559293756 0.00001
NM_032977.4(CASP10):c.396G>C (p.Lys132Asn) rs1944465097 0.00001
NM_032977.4(CASP10):c.422C>T (p.Ser141Leu) rs780552445 0.00001
NM_032977.4(CASP10):c.423G>T (p.Ser141=) rs768931544 0.00001
NM_032977.4(CASP10):c.442-14T>G rs755555484 0.00001
NM_032977.4(CASP10):c.442-20C>G rs1186617226 0.00001
NM_032977.4(CASP10):c.478G>A (p.Gly160Ser) rs781000749 0.00001
NM_032977.4(CASP10):c.491A>C (p.Glu164Ala) rs1165543405 0.00001
NM_032977.4(CASP10):c.49A>G (p.Lys17Glu) rs552561721 0.00001
NM_032977.4(CASP10):c.502A>G (p.Thr168Ala) rs371962581 0.00001
NM_032977.4(CASP10):c.516C>G (p.Asp172Glu) rs1465733324 0.00001
NM_032977.4(CASP10):c.530T>G (p.Val177Gly) rs767659964 0.00001
NM_032977.4(CASP10):c.598C>T (p.Pro200Ser) rs752039240 0.00001
NM_032977.4(CASP10):c.616G>A (p.Glu206Lys) rs972443043 0.00001
NM_032977.4(CASP10):c.621G>A (p.Ser207=) rs776912309 0.00001
NM_032977.4(CASP10):c.664A>G (p.Thr222Ala) rs763551197 0.00001
NM_032977.4(CASP10):c.721+1G>A rs1476766456 0.00001
NM_032977.4(CASP10):c.721G>A (p.Gly241Ser) rs779013005 0.00001
NM_032977.4(CASP10):c.722-15T>C rs111916535 0.00001
NM_032977.4(CASP10):c.722-17A>G rs984268760 0.00001
NM_032977.4(CASP10):c.733A>C (p.Thr245Pro) rs1312829146 0.00001
NM_032977.4(CASP10):c.763G>A (p.Gly255Arg) rs746191869 0.00001
NM_032977.4(CASP10):c.775G>A (p.Ala259Thr) rs1200629345 0.00001
NM_032977.4(CASP10):c.776C>T (p.Ala259Val) rs747722985 0.00001
NM_032977.4(CASP10):c.783_784del (p.Asn262fs) rs1451261167 0.00001
NM_032977.4(CASP10):c.786C>G (p.Asn262Lys) rs368675766 0.00001
NM_032977.4(CASP10):c.802A>C (p.Thr268Pro) rs770921459 0.00001
NM_032977.4(CASP10):c.817G>A (p.Ala273Thr) rs1335254762 0.00001
NM_032977.4(CASP10):c.81T>C (p.Ile27=) rs751728796 0.00001
NM_032977.4(CASP10):c.838C>T (p.Arg280Trp) rs1351292534 0.00001
NM_032977.4(CASP10):c.887C>T (p.Ser296Phe) rs146654699 0.00001
NM_032977.4(CASP10):c.894G>A (p.Lys298=) rs775531682 0.00001
NM_032977.4(CASP10):c.910C>T (p.His304Tyr) rs748988477 0.00001
NM_032977.4(CASP10):c.923-13T>G rs776612061 0.00001
NM_032977.4(CASP10):c.923-17T>G rs760618594 0.00001
NM_032977.4(CASP10):c.923-18T>G rs773513528 0.00001
NM_032977.4(CASP10):c.94G>A (p.Gly32Arg) rs375838979 0.00001
NM_032977.4(CASP10):c.983C>T (p.Thr328Met) rs200424779 0.00001
NM_032977.4(CASP10):c.984G>A (p.Thr328=) rs965047698 0.00001
NM_032977.4(CASP10):c.997G>A (p.Glu333Lys) rs972778129 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_033629.6(TREX1):c.112G>T (p.Ala38Ser) rs765715997 0.00001
NM_033629.6(TREX1):c.138C>T (p.Ser46=) rs895463771 0.00001
NM_033629.6(TREX1):c.212T>C (p.Val71Ala) rs145208844 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_033629.6(TREX1):c.226G>T (p.Ala76Ser) rs986003279 0.00001
NM_033629.6(TREX1):c.23C>T (p.Pro8Leu) rs561454996 0.00001
NM_033629.6(TREX1):c.251T>C (p.Ile84Thr) rs748535974 0.00001
NM_033629.6(TREX1):c.268G>A (p.Ala90Thr) rs1158056849 0.00001
NM_033629.6(TREX1):c.277G>C (p.Ala93Pro) rs2040338083 0.00001
NM_033629.6(TREX1):c.281C>T (p.Ala94Val) rs774538797 0.00001
NM_033629.6(TREX1):c.282G>A (p.Ala94=) rs374854957 0.00001
NM_033629.6(TREX1):c.284A>G (p.His95Arg) rs368972486 0.00001
NM_033629.6(TREX1):c.289C>A (p.Arg97Ser) rs763817243 0.00001
NM_033629.6(TREX1):c.294A>G (p.Gln98=) rs2040339926 0.00001
NM_033629.6(TREX1):c.29C>A (p.Pro10His) rs1460993756 0.00001
NM_033629.6(TREX1):c.308A>T (p.Asn103Ile) rs770158462 0.00001
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030 0.00001
NM_033629.6(TREX1):c.347C>T (p.Pro116Leu) rs765151974 0.00001
NM_033629.6(TREX1):c.357G>A (p.Trp119Ter) rs747399274 0.00001
NM_033629.6(TREX1):c.382C>T (p.Arg128Cys) rs199614534 0.00001
NM_033629.6(TREX1):c.394C>A (p.Pro132Thr) rs200510205 0.00001
NM_033629.6(TREX1):c.417T>C (p.Ala139=) rs561010257 0.00001
NM_033629.6(TREX1):c.418A>G (p.Met140Val) rs761526437 0.00001
NM_033629.6(TREX1):c.427C>G (p.Leu143Val) rs576033124 0.00001
NM_033629.6(TREX1):c.429C>T (p.Leu143=) rs1300401892 0.00001
NM_033629.6(TREX1):c.459G>A (p.Val153=) rs901216260 0.00001
NM_033629.6(TREX1):c.474G>A (p.Ala158=) rs373876183 0.00001
NM_033629.6(TREX1):c.477G>A (p.Leu159=) rs376018168 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NM_033629.6(TREX1):c.500G>A (p.Ser167Asn) rs200309956 0.00001
NM_033629.6(TREX1):c.501C>T (p.Ser167=) rs149789575 0.00001
NM_033629.6(TREX1):c.520A>G (p.Arg174Gly) rs759481016 0.00001
NM_033629.6(TREX1):c.522G>A (p.Arg174=) rs1310282311 0.00001
NM_033629.6(TREX1):c.530A>G (p.Tyr177Cys) rs1479030388 0.00001
NM_033629.6(TREX1):c.543C>T (p.Ser181=) rs948439253 0.00001
NM_033629.6(TREX1):c.582G>A (p.Ser194=) rs747560892 0.00001
NM_033629.6(TREX1):c.586A>G (p.Thr196Ala) rs1176739791 0.00001
NM_033629.6(TREX1):c.588G>A (p.Thr196=) rs781221615 0.00001
NM_033629.6(TREX1):c.590C>T (p.Ala197Val) rs201954133 0.00001
NM_033629.6(TREX1):c.5G>T (p.Gly2Val) rs199519507 0.00001
NM_033629.6(TREX1):c.605T>G (p.Leu202Arg) rs769993269 0.00001
NM_033629.6(TREX1):c.61G>A (p.Ala21Thr) rs1356174769 0.00001
NM_033629.6(TREX1):c.627G>A (p.Gln209=) rs748970378 0.00001
NM_033629.6(TREX1):c.647T>C (p.Leu216Pro) rs142082672 0.00001
NM_033629.6(TREX1):c.690G>A (p.Arg230=) rs55691060 0.00001
NM_033629.6(TREX1):c.695T>G (p.Met232Arg) rs373284647 0.00001
NM_033629.6(TREX1):c.740C>T (p.Ala247Val) rs201503409 0.00001
NM_033629.6(TREX1):c.767del (p.Thr256fs) rs1302856977 0.00001
NM_033629.6(TREX1):c.782G>A (p.Ser261Asn) rs1225568750 0.00001
NM_033629.6(TREX1):c.784C>T (p.Pro262Ser) rs867148059 0.00001
NM_033629.6(TREX1):c.80C>T (p.Ser27Phe) rs11548268 0.00001
NM_033629.6(TREX1):c.81C>G (p.Ser27=) rs1308074815 0.00001
NM_033629.6(TREX1):c.828G>A (p.Val276=) rs149654159 0.00001
NM_033629.6(TREX1):c.833A>T (p.Asp278Val) rs2040383072 0.00001
NM_033629.6(TREX1):c.846A>G (p.Leu282=) rs374232562 0.00001
NM_033629.6(TREX1):c.85C>T (p.Pro29Ser) rs1407557314 0.00001
NM_033629.6(TREX1):c.877C>G (p.Leu293Val) rs759839987 0.00001
NM_033629.6(TREX1):c.879G>C (p.Leu293=) rs368090024 0.00001
NM_033629.6(TREX1):c.885C>T (p.Ala295=) rs775937744 0.00001
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) rs76224909 0.00001
NM_033629.6(TREX1):c.935C>G (p.Pro312Arg) rs772805032 0.00001
NM_033629.6(TREX1):c.95C>T (p.Thr32Met) rs755138065 0.00001
NM_033629.6(TREX1):c.9G>A (p.Ser3=) rs762687506 0.00001
NM_080628.3(TLDC2):c.*18-34C>G rs570535296 0.00001
NM_080628.3(TLDC2):c.*18-578G>A rs1414917474 0.00001
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln) rs113994137 0.00001
NM_139276.3(STAT3):c.373C>G (p.Gln125Glu) rs574370336 0.00001
46;X;t(X;12)(p11.2;q24.33)dn
46;XX;inv(14)(q24.1q32.1)dn
FOXP3, 543C-T
Multiple alleles
NC_000001.10:g.(?_171605065)_(173962123_?)del
NC_000001.10:g.(?_171605065)_(173962123_?)dup
NC_000001.11:g.(?_172658358)_(172666036_?)dup
NC_000001.11:g.(?_172658358)_(172909884_?)dup
NC_000001.11:g.17157671G>T rs1557787212
NC_000002.11:g.(?_189839216)_(192012929_?)dup
NC_000002.11:g.(?_191835429)_(192012929_?)del
NC_000002.11:g.(?_191843562)_(191845415_?)del
NC_000002.11:g.(?_201943606)_(204824322_?)del
NC_000002.11:g.(?_201943606)_(204824322_?)dup
NC_000002.11:g.(?_202050501)_(202052542_?)dup
NC_000002.11:g.(?_202050501)_(202057862_?)del
NC_000002.11:g.(?_202052409)_(202052542_?)del
NC_000002.11:g.(?_202060545)_(202060691_?)del
NC_000002.11:g.(?_202068433)_(202068509_?)del
NC_000002.11:g.(?_202071408)_(202074178_?)del
NC_000002.11:g.(?_202131210)_(202137519_?)dup
NC_000002.11:g.(?_204731519)_(204732794_?)del
NC_000002.11:g.(?_204732666)_(204737535_?)dup
NC_000002.11:g.(?_204734049)_(204737535_?)del
NC_000002.12:g.(?_190970683)_(190970737_?)dup
NC_000002.12:g.(?_201185758)_(201229103_?)dup
NC_000002.12:g.(?_201192964)_(201193139_?)dup
NC_000002.12:g.(?_201203710)_(201209582_?)del
NC_000002.12:g.(?_201228913)_(201286614_?)del
NC_000002.12:g.(?_201276807)_(201276988_?)dup
NC_000002.12:g.(?_203444868)_(203957883_?)del
NC_000002.12:g.(?_203866796)_(203959619_?)del
NC_000003.11:g.(?_48507870)_(50340407_?)del
NC_000003.11:g.(?_53125899)_(53215768_?)dup
NC_000003.11:g.(?_53125899)_(53226302_?)del
NC_000010.10:g.(?_90749963)_(90750683_?)del
NC_000010.10:g.(?_90767437)_(90770592_?)del
NC_000010.11:g.(?_88770845)_(89328078_?)del
NC_000010.11:g.(?_88989499)_(89247668_?)del
NC_000021.8:g.(?_45629566)_(46330717_?)dup
NC_000021.8:g.(?_45705870)_(45707494_?)del
NC_000021.8:g.(?_45705870)_(45711113_?)del
NC_000021.8:g.(?_45705880)_(45707026_?)del
NC_000021.8:g.(?_45705880)_(45711103_?)del
NC_000021.8:g.(?_45709520)_(45759077_?)dup
NC_000021.8:g.(?_45709640)_(45714378_?)del
NC_000021.8:g.(?_45713652)_(45717630_?)dup
NC_000021.8:g.(?_45717519)_(45717610_?)dup
NC_000021.9:g.(?_44285987)_(44297747_?)del
NC_000021.9:g.(?_44297636)_(44297747_?)dup
NC_000021.9:g.44288345_44288346del
NC_000023.10:g.(?_46466387)_(50659607_?)del
NC_000023.10:g.(?_48932462)_(49840657_?)dup
NM_000043.6(FAS):c.*1153A>T rs986613204
NM_000043.6(FAS):c.*119C>T rs1848699181
NM_000043.6(FAS):c.*566C>G rs886047463
NM_000043.6(FAS):c.*586G>A rs1848730964
NM_000043.6(FAS):c.*88T>C rs886047461
NM_000043.6(FAS):c.1002G>T (p.Leu334Phe) rs1848690736
NM_000043.6(FAS):c.1008G>C (p.Ter336Tyr)
NM_000043.6(FAS):c.102A>G (p.Gly34=) rs1554849878
NM_000043.6(FAS):c.103T>A (p.Leu35Met)
NM_000043.6(FAS):c.104T>G (p.Leu35Trp) rs2133471258
NM_000043.6(FAS):c.110T>A (p.Leu37Ter) rs1564686301
NM_000043.6(FAS):c.115A>T (p.Lys39Ter)
NM_000043.6(FAS):c.136A>C (p.Thr46Pro)
NM_000043.6(FAS):c.140A>G (p.Gln47Arg)
NM_000043.6(FAS):c.144C>T (p.Asn48=)
NM_000043.6(FAS):c.145T>C (p.Leu49=)
NM_000043.6(FAS):c.155_169dup (p.Gly56_Gln57insLeuHisHisAspGly)
NM_000043.6(FAS):c.15G>C (p.Trp5Cys)
NM_000043.6(FAS):c.161A>G (p.His54Arg) rs759152311
NM_000043.6(FAS):c.162T>C (p.His54=)
NM_000043.6(FAS):c.174C>T (p.Phe58=)
NM_000043.6(FAS):c.175T>A (p.Cys59Ser)
NM_000043.6(FAS):c.178del (p.His60fs) rs1589465172
NM_000043.6(FAS):c.179A>G (p.His60Arg) rs753767914
NM_000043.6(FAS):c.182_183insTTAT (p.Lys61fs) rs2133472134
NM_000043.6(FAS):c.185C>G (p.Pro62Arg) rs757780022
NM_000043.6(FAS):c.187T>C (p.Cys63Arg)
NM_000043.6(FAS):c.195A>G (p.Pro65=)
NM_000043.6(FAS):c.196+17A>G
NM_000043.6(FAS):c.196+2dup
NM_000043.6(FAS):c.196+5G>T
NM_000043.6(FAS):c.197-11T>A rs187793393
NM_000043.6(FAS):c.197-11T>C rs187793393
NM_000043.6(FAS):c.197-18C>G rs765687911
NM_000043.6(FAS):c.197-1G>A rs2133502090
NM_000043.6(FAS):c.197-2A>G rs1564691414
NM_000043.6(FAS):c.197-8T>C rs2133501996
NM_000043.6(FAS):c.204G>T (p.Arg68Ser)
NM_000043.6(FAS):c.20T>C (p.Leu7Pro) rs2133384423
NM_000043.6(FAS):c.218G>C (p.Cys73Ser) rs2133502355
NM_000043.6(FAS):c.226A>C (p.Asn76His)
NM_000043.6(FAS):c.230G>A (p.Gly77Glu)
NM_000043.6(FAS):c.232del (p.Asp78fs) rs606231361
NM_000043.6(FAS):c.245G>A (p.Cys82Tyr)
NM_000043.6(FAS):c.249G>A (p.Val83=)
NM_000043.6(FAS):c.259G>A (p.Glu87Lys) rs2133503091
NM_000043.6(FAS):c.259G>T (p.Glu87Ter) rs2133503091
NM_000043.6(FAS):c.264G>A (p.Gly88=) rs2133503215
NM_000043.6(FAS):c.279C>A (p.Asp93Glu)
NM_000043.6(FAS):c.27T>C (p.Pro9=)
NM_000043.6(FAS):c.287A>G (p.His96Arg) rs1589475804
NM_000043.6(FAS):c.30+14_30+18dup
NM_000043.6(FAS):c.30+19G>A rs202165529
NM_000043.6(FAS):c.30+19G>T rs202165529
NM_000043.6(FAS):c.30+20G>A
NM_000043.6(FAS):c.30+2T>C
NM_000043.6(FAS):c.30+6C>T rs1847139427
NM_000043.6(FAS):c.31-13T>A
NM_000043.6(FAS):c.31-8T>G rs1589464585
NM_000043.6(FAS):c.31-9A>G rs886047458
NM_000043.6(FAS):c.310T>C (p.Cys104Arg)
NM_000043.6(FAS):c.312dup (p.Arg105Ter) rs2133503921
NM_000043.6(FAS):c.323A>G (p.Asp108Gly) rs1848315820
NM_000043.6(FAS):c.324T>C (p.Asp108=) rs1848316008
NM_000043.6(FAS):c.32T>C (p.Val11Ala)
NM_000043.6(FAS):c.332A>G (p.His111Arg) rs2133504109
NM_000043.6(FAS):c.333T>C (p.His111=)
NM_000043.6(FAS):c.334+11T>C
NM_000043.6(FAS):c.334+2T>C
NM_000043.6(FAS):c.334+2dup rs606231362
NM_000043.6(FAS):c.335-10G>T rs377251325
NM_000043.6(FAS):c.335-13A>T
NM_000043.6(FAS):c.335-15A>C
NM_000043.6(FAS):c.335-2A>G
NM_000043.6(FAS):c.335-4C>G
NM_000043.6(FAS):c.33T>C (p.Val11=)
NM_000043.6(FAS):c.340G>A (p.Glu114Lys)
NM_000043.6(FAS):c.341A>T (p.Glu114Val)
NM_000043.6(FAS):c.345G>A (p.Val115=) rs2133513698
NM_000043.6(FAS):c.356del (p.Cys119fs)
NM_000043.6(FAS):c.361C>T (p.Arg121Trp) rs121913078
NM_000043.6(FAS):c.383G>A (p.Arg128Lys) rs2133514262
NM_000043.6(FAS):c.386G>A (p.Cys129Tyr)
NM_000043.6(FAS):c.38C>A (p.Thr13Lys)
NM_000043.6(FAS):c.38del (p.Thr13fs) rs1842954041
NM_000043.6(FAS):c.391C>A (p.Pro131Thr)
NM_000043.6(FAS):c.396C>T (p.Asn132=)
NM_000043.6(FAS):c.397T>C (p.Phe133Leu)
NM_000043.6(FAS):c.398T>A (p.Phe133Tyr)
NM_000043.6(FAS):c.39G>A (p.Thr13=) rs377196867
NM_000043.6(FAS):c.403del (p.Cys135fs) rs1564692984
NM_000043.6(FAS):c.404G>A (p.Cys135Tyr)
NM_000043.6(FAS):c.404G>T (p.Cys135Phe) rs1404280764
NM_000043.6(FAS):c.412A>G (p.Thr138Ala)
NM_000043.6(FAS):c.415G>A (p.Val139Ile)
NM_000043.6(FAS):c.415del (p.Val139fs) rs1589478691
NM_000043.6(FAS):c.418T>G (p.Cys140Gly)
NM_000043.6(FAS):c.430G>A (p.Asp144Asn) rs753670814
NM_000043.6(FAS):c.430G>T (p.Asp144Tyr)
NM_000043.6(FAS):c.432C>T (p.Asp144=) rs574338716
NM_000043.6(FAS):c.442A>T (p.Lys148Ter) rs2133515017
NM_000043.6(FAS):c.443+15T>G
NM_000043.6(FAS):c.443+20T>C
NM_000043.6(FAS):c.444-12T>C
NM_000043.6(FAS):c.444-5del rs751798922
NM_000043.6(FAS):c.444-5dup rs751798922
NM_000043.6(FAS):c.444-9T>C
NM_000043.6(FAS):c.466G>A (p.Glu156Lys)
NM_000043.6(FAS):c.46_47del (p.Val15_Ala16insTer) rs1848019699
NM_000043.6(FAS):c.473C>T (p.Thr158Ile)
NM_000043.6(FAS):c.476_489del (p.Leu159fs)
NM_000043.6(FAS):c.477C>G (p.Leu159=)
NM_000043.6(FAS):c.478A>G (p.Thr160Ala) rs1589482084
NM_000043.6(FAS):c.480C>T (p.Thr160=) rs1589482110
NM_000043.6(FAS):c.485A>T (p.Asn162Ile) rs993150748
NM_000043.6(FAS):c.489C>A (p.Thr163=)
NM_000043.6(FAS):c.490A>G (p.Lys164Glu)
NM_000043.6(FAS):c.494G>A (p.Cys165Tyr)
NM_000043.6(FAS):c.498del (p.Glu167fs)
NM_000043.6(FAS):c.4C>T (p.Leu2=)
NM_000043.6(FAS):c.505+14T>C
NM_000043.6(FAS):c.505+16C>A
NM_000043.6(FAS):c.505+1G>C rs2133527951
NM_000043.6(FAS):c.506-11C>T
NM_000043.6(FAS):c.506-16A>G rs2133529359
NM_000043.6(FAS):c.506-1G>C
NM_000043.6(FAS):c.506-6C>G rs1589482683
NM_000043.6(FAS):c.506G>T (p.Gly169Val) rs1848488731
NM_000043.6(FAS):c.526T>C (p.Trp176Arg)
NM_000043.6(FAS):c.528G>A (p.Trp176Ter) rs866771343
NM_000043.6(FAS):c.529C>T (p.Leu177Phe)
NM_000043.6(FAS):c.530T>G (p.Leu177Arg) rs1848490280
NM_000043.6(FAS):c.536T>G (p.Leu179Arg) rs1554851718
NM_000043.6(FAS):c.538C>T (p.Leu180Phe)
NM_000043.6(FAS):c.554C>T (p.Pro185Leu)
NM_000043.6(FAS):c.558A>G (p.Leu186=)
NM_000043.6(FAS):c.55T>C (p.Ser19Pro)
NM_000043.6(FAS):c.563_566del (p.Val188fs) rs1207744817
NM_000043.6(FAS):c.565_566insACAAGA (p.Trp189delinsTyrLysArg) rs2133530271
NM_000043.6(FAS):c.566_568delinsACAAGAATT (p.Trp189_Val190delinsTyrLysAsnLeu) rs1564695523
NM_000043.6(FAS):c.568+5G>C
NM_000043.6(FAS):c.569-1G>T
NM_000043.6(FAS):c.569-2A>C rs606231363
NM_000043.6(FAS):c.56C>T (p.Ser19Leu)
NM_000043.6(FAS):c.575G>A (p.Arg192Lys)
NM_000043.6(FAS):c.588G>A (p.Gln196=)
NM_000043.6(FAS):c.617del (p.Asn206fs) rs1848558128
NM_000043.6(FAS):c.634T>A (p.Ser212Thr) rs1848559695
NM_000043.6(FAS):c.635C>T (p.Ser212Phe)
NM_000043.6(FAS):c.641_642delinsAC (p.Thr214Asn) rs1848560803
NM_000043.6(FAS):c.641_642delinsTC (p.Thr214Ile) rs1848560803
NM_000043.6(FAS):c.642T>G (p.Thr214=)
NM_000043.6(FAS):c.644T>A (p.Leu215Ter) rs2133539468
NM_000043.6(FAS):c.651+1G>A rs1564696849
NM_000043.6(FAS):c.651+1G>T rs1564696849
NM_000043.6(FAS):c.651+2T>A rs267607122
NM_000043.6(FAS):c.651+2T>C rs267607122
NM_000043.6(FAS):c.651+2_651+3insTGAAAT rs1589485636
NM_000043.6(FAS):c.651+5G>T
NM_000043.6(FAS):c.652-12T>A rs1214604414
NM_000043.6(FAS):c.652-1G>A rs1589488463
NM_000043.6(FAS):c.652-9G>T rs1848622815
NM_000043.6(FAS):c.652G>A (p.Glu218Lys)
NM_000043.6(FAS):c.657_658del (p.Val220fs) rs1589488494
NM_000043.6(FAS):c.657del (p.Val220fs) rs2133547404
NM_000043.6(FAS):c.658G>A (p.Val220Met) rs755437276
NM_000043.6(FAS):c.66T>C (p.Ser22=)
NM_000043.6(FAS):c.673T>A (p.Ser225Thr) rs891207457
NM_000043.6(FAS):c.676+12A>C rs777843173
NM_000043.6(FAS):c.676+13T>A
NM_000043.6(FAS):c.676+1G>A rs1589488640
NM_000043.6(FAS):c.676+1G>C
NM_000043.6(FAS):c.676+1G>T rs1589488640
NM_000043.6(FAS):c.676+3A>G rs1848626772
NM_000043.6(FAS):c.677-16A>G
NM_000043.6(FAS):c.677-9A>G
NM_000043.6(FAS):c.67G>A (p.Val23Ile)
NM_000043.6(FAS):c.680T>C (p.Val227Ala)
NM_000043.6(FAS):c.684C>T (p.Asp228=) rs1848665121
NM_000043.6(FAS):c.685_686del (p.Leu229fs) rs2119445087
NM_000043.6(FAS):c.692_693insT (p.Lys231fs) rs606231366
NM_000043.6(FAS):c.693dup (p.Tyr232fs)
NM_000043.6(FAS):c.695A>G (p.Tyr232Cys) rs121913079
NM_000043.6(FAS):c.704C>T (p.Thr235Ile) rs2119445212
NM_000043.6(FAS):c.704_706del (p.Thr235del) rs1848666809
NM_000043.6(FAS):c.707_708insG (p.Ile236fs) rs2119445224
NM_000043.6(FAS):c.711T>C (p.Ala237=)
NM_000043.6(FAS):c.715G>T (p.Val239Phe)
NM_000043.6(FAS):c.718_719insGTCG (p.Met240fs)
NM_000043.6(FAS):c.719T>A (p.Met240Lys) rs2119445378
NM_000043.6(FAS):c.719T>G (p.Met240Arg)
NM_000043.6(FAS):c.721A>C (p.Thr241Pro) rs121913076
NM_000043.6(FAS):c.722C>A (p.Thr241Lys)
NM_000043.6(FAS):c.734T>G (p.Val245Gly) rs200778245
NM_000043.6(FAS):c.73G>A (p.Ala25Thr) rs606231364
NM_000043.6(FAS):c.740G>C (p.Gly247Ala) rs121913085
NM_000043.6(FAS):c.746T>C (p.Val249Ala)
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000043.6(FAS):c.749G>A (p.Arg250Gln) rs121913080
NM_000043.6(FAS):c.749G>C (p.Arg250Pro) rs121913080
NM_000043.6(FAS):c.753G>A (p.Lys251=)
NM_000043.6(FAS):c.755del (p.Asn252fs) rs1564699214
NM_000043.6(FAS):c.758G>T (p.Gly253Val) rs1848671126
NM_000043.6(FAS):c.760G>T (p.Val254Phe) rs2119445796
NM_000043.6(FAS):c.761T>C (p.Val254Ala) rs1848671288
NM_000043.6(FAS):c.767A>G (p.Glu256Gly) rs2119445897
NM_000043.6(FAS):c.768A>G (p.Glu256=)
NM_000043.6(FAS):c.772A>G (p.Lys258Glu)
NM_000043.6(FAS):c.775del (p.Lys258_Ile259insTer)
NM_000043.6(FAS):c.776T>C (p.Ile259Thr) rs1848675068
NM_000043.6(FAS):c.778G>A (p.Asp260Asn) rs121913086
NM_000043.6(FAS):c.778G>T (p.Asp260Tyr) rs121913086
NM_000043.6(FAS):c.779A>G (p.Asp260Gly)
NM_000043.6(FAS):c.779A>T (p.Asp260Val) rs28929498
NM_000043.6(FAS):c.77A>G (p.Gln26Arg) rs2133470846
NM_000043.6(FAS):c.781G>A (p.Glu261Lys)
NM_000043.6(FAS):c.789G>C (p.Lys263Asn) rs2119446096
NM_000043.6(FAS):c.792T>G (p.Asn264Lys) rs2119446116
NM_000043.6(FAS):c.796A>C (p.Asn266His)
NM_000043.6(FAS):c.801C>T (p.Val267=)
NM_000043.6(FAS):c.802dup (p.Gln268fs)
NM_000043.6(FAS):c.809C>T (p.Thr270Ile) rs121913081
NM_000043.6(FAS):c.814G>A (p.Glu272Lys)
NM_000043.6(FAS):c.814G>C (p.Glu272Gln)
NM_000043.6(FAS):c.816del (p.Glu272fs) rs2119446366
NM_000043.6(FAS):c.817C>A (p.Gln273Lys) rs121913077
NM_000043.6(FAS):c.817C>T (p.Gln273Ter) rs121913077
NM_000043.6(FAS):c.818A>G (p.Gln273Arg) rs1848677745
NM_000043.6(FAS):c.820A>G (p.Lys274Glu)
NM_000043.6(FAS):c.823G>A (p.Val275Ile)
NM_000043.6(FAS):c.828A>C (p.Gln276His)
NM_000043.6(FAS):c.833T>A (p.Leu278His)
NM_000043.6(FAS):c.836G>A (p.Arg279His)
NM_000043.6(FAS):c.841T>A (p.Trp281Arg)
NM_000043.6(FAS):c.841T>G (p.Trp281Gly)
NM_000043.6(FAS):c.84T>C (p.Thr28=) rs1848023281
NM_000043.6(FAS):c.857G>A (p.Gly286Glu)
NM_000043.6(FAS):c.862A>G (p.Lys288Glu)
NM_000043.6(FAS):c.866A>G (p.Glu289Gly)
NM_000043.6(FAS):c.867A>G (p.Glu289=) rs377337130
NM_000043.6(FAS):c.869C>A (p.Ala290Glu) rs760993872
NM_000043.6(FAS):c.869C>T (p.Ala290Val)
NM_000043.6(FAS):c.870G>A (p.Ala290=)
NM_000043.6(FAS):c.874G>C (p.Asp292His)
NM_000043.6(FAS):c.878C>T (p.Thr293Ile) rs2119447206
NM_000043.6(FAS):c.879_880del (p.Leu294fs) rs886039524
NM_000043.6(FAS):c.881del (p.Thr293_Leu294insTer)
NM_000043.6(FAS):c.900A>C (p.Lys300Asn)
NM_000043.6(FAS):c.901G>A (p.Ala301Thr) rs1449711911
NM_000043.6(FAS):c.905A>G (p.Asn302Ser)
NM_000043.6(FAS):c.908T>G (p.Leu303Arg)
NM_000043.6(FAS):c.909T>C (p.Leu303=) rs967060461
NM_000043.6(FAS):c.910T>C (p.Cys304Arg)
NM_000043.6(FAS):c.913A>G (p.Thr305Ala)
NM_000043.6(FAS):c.915T>G (p.Thr305=)
NM_000043.6(FAS):c.929T>G (p.Ile310Ser) rs2119448150
NM_000043.6(FAS):c.953T>C (p.Ile318Thr) rs1848687177
NM_000043.6(FAS):c.963C>G (p.Asp321Glu)
NM_000043.6(FAS):c.968_987dup (p.Glu330fs) rs606231365
NM_000043.6(FAS):c.976A>G (p.Asn326Asp) rs770595930
NM_000043.6(FAS):c.976A>T (p.Asn326Tyr)
NM_000043.6(FAS):c.978C>T (p.Asn326=)
NM_000043.6(FAS):c.97A>C (p.Lys33Gln) rs55766344
NM_000043.6(FAS):c.993C>A (p.Ile331=) rs1237891648
NM_000138.4(FBN1):c.-371T>C rs886051257
NM_000138.4(FBN1):c.-389_-388TC[1] rs886051258
NM_000138.4(FBN1):c.4890_4891delinsTG (p.Gln1630_Cys1631delinsHisGly) rs1566903931
NM_000138.5(FBN1):c.*1007G>T rs886051236
NM_000138.5(FBN1):c.*1396C>T rs886051235
NM_000138.5(FBN1):c.*1477C>A rs886051233
NM_000138.5(FBN1):c.*1635C>A rs886051232
NM_000138.5(FBN1):c.*1733A>G rs886051230
NM_000138.5(FBN1):c.*1943G>T rs886051229
NM_000138.5(FBN1):c.*1950dup rs535798341
NM_000138.5(FBN1):c.*2078G>T rs886051228
NM_000138.5(FBN1):c.*2260C>A rs886051225
NM_000138.5(FBN1):c.*2421C>A rs886051224
NM_000138.5(FBN1):c.*2443G>T rs886051223
NM_000138.5(FBN1):c.*2533C>A rs886051222
NM_000138.5(FBN1):c.*2578C>T rs761025257
NM_000138.5(FBN1):c.*2594G>T rs886051220
NM_000138.5(FBN1):c.*286C>T rs886051241
NM_000138.5(FBN1):c.*406G>T rs886051240
NM_000138.5(FBN1):c.*938G>T rs886051238
NM_000138.5(FBN1):c.*960del rs527621676
NM_000138.5(FBN1):c.*987C>T rs886051237
NM_000138.5(FBN1):c.-132A>C rs886051255
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys) rs886051250
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) rs368089138
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys) rs587782943
NM_000138.5(FBN1):c.1415dup (p.Tyr472Ter)
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg) rs1555400373
NM_000138.5(FBN1):c.1468+4C>A rs765579667
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1498G>C (p.Ala500Pro) rs886044236
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp) rs768253008
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.164+3A>G
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro) rs1566913983
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg) rs2141306513
NM_000138.5(FBN1):c.2206A>G (p.Asn736Asp) rs878853678
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs) rs1566911957
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn) rs1566911886
NM_000138.5(FBN1):c.2506del (p.Ser836fs) rs1566911709
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg) rs2043595247
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys) rs746834413
NM_000138.5(FBN1):c.2753del (p.Pro918fs)
NM_000138.5(FBN1):c.2801A>C (p.Lys934Thr) rs1489199503
NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu) rs148076256
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser) rs1555398681
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) rs1597631624
NM_000138.5(FBN1):c.319A>T (p.Ile107Leu) rs2140733930
NM_000138.5(FBN1):c.3205A>G (p.Thr1069Ala) rs761632843
NM_000138.5(FBN1):c.3254A>G (p.Gln1085Arg) rs1031572615
NM_000138.5(FBN1):c.3337+1dup rs1566909762
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro) rs2141293110
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile) rs753900024
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) rs397515794
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser) rs1555398280
NM_000138.5(FBN1):c.3869T>C (p.Ile1290Thr) rs2043467019
NM_000138.5(FBN1):c.3962C>T (p.Thr1321Ile) rs750219182
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr) rs2141279835
NM_000138.5(FBN1):c.4130A>T (p.His1377Leu) rs1238143005
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile) rs1488326228
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu) rs749196340
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile) rs2043401571
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val) rs747867726
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser) rs1555397413
NM_000138.5(FBN1):c.4404C>G (p.Phe1468Leu) rs780479561
NM_000138.5(FBN1):c.4406G>T (p.Arg1469Leu) rs397515808
NM_000138.5(FBN1):c.442+4A>C rs768207411
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) rs370161725
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu) rs1566904712
NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser) rs1057518501
NM_000138.5(FBN1):c.4487C>T (p.Thr1496Met) rs776199613
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.4787G>A (p.Arg1596Gln) rs769588424
NM_000138.5(FBN1):c.5018T>C (p.Ile1673Thr) rs2043300504
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=) rs1597545860
NM_000138.5(FBN1):c.5066-12C>T rs531105331
NM_000138.5(FBN1):c.5134_5137dup (p.Asn1713fs) rs1131692049
NM_000138.5(FBN1):c.5477A>G (p.Asn1826Ser) rs2043210015
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg) rs1597537835
NM_000138.5(FBN1):c.5546-1G>A rs1566899590
NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val) rs2141252254
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg) rs145082616
NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile) rs1269096957
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile) rs1555395768
NM_000138.5(FBN1):c.5836del (p.Gln1946fs) rs2141249251
NM_000138.5(FBN1):c.5938G>C (p.Glu1980Gln) rs370940450
NM_000138.5(FBN1):c.595C>T (p.Leu199Phe) rs1221144366
NM_000138.5(FBN1):c.5981G>C (p.Gly1994Ala) rs1484900122
NM_000138.5(FBN1):c.5995A>G (p.Ile1999Val) rs183690919
NM_000138.5(FBN1):c.6037+9G>A
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg) rs1555395486
NM_000138.5(FBN1):c.6145A>G (p.Ser2049Gly) rs1597529691
NM_000138.5(FBN1):c.6161A>G (p.Gln2054Arg) rs2043116342
NM_000138.5(FBN1):c.6164-5T>C rs2043085940
NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter) rs71467648
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn) rs886051247
NM_000138.5(FBN1):c.6357G>C (p.Val2119=) rs886051246
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His) rs746167150
NM_000138.5(FBN1):c.6512C>T (p.Ser2171Phe) rs1413266501
NM_000138.5(FBN1):c.6533A>G (p.Asn2178Ser) rs2141237126
NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr)
NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala) rs763165301
NM_000138.5(FBN1):c.6601A>C (p.Met2201Leu) rs776823384
NM_000138.5(FBN1):c.6640C>G (p.Pro2214Ala) rs1375370990
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met) rs921997271
NM_000138.5(FBN1):c.6830G>A (p.Gly2277Glu) rs2043017212
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His) rs363830
NM_000138.5(FBN1):c.6957T>C (p.Asn2319=) rs1290478839
NM_000138.5(FBN1):c.6959A>G (p.Asp2320Gly) rs794728261
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys) rs397515841
NM_000138.5(FBN1):c.69T>C (p.His23=) rs2140787712
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys) rs376372763
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.719G>A (p.Arg240His) rs768744583
NM_000138.5(FBN1):c.7236T>C (p.Val2412=) rs1306021418
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser) rs363810
NM_000138.5(FBN1):c.7547C>T (p.Thr2516Ile) rs2042946390
NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala) rs2042941498
NM_000138.5(FBN1):c.778G>A (p.Gly260Arg) rs2043995400
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr) rs1280320763
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val) rs2042898824
NM_000138.5(FBN1):c.793A>T (p.Thr265Ser) rs982468949
NM_000138.5(FBN1):c.799G>C (p.Gly267Arg) rs2141353715
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly) rs1555393833
NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe) rs1464168530
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser) rs951026080
NM_000138.5(FBN1):c.821C>A (p.Pro274His) rs1085307537
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000138.5(FBN1):c.8401G>C (p.Asp2801His) rs868087455
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) rs368599541
NM_000138.5(FBN1):c.907G>A (p.Glu303Lys) rs1566919661
NM_000207.3(INS):c.163C>T (p.Arg55Cys) rs121908261
NM_000207.3(INS):c.67G>A (p.Ala23Thr) rs13306444
NM_000246.4(CIITA):c.174A>T (p.Gly58=) rs759412177
NM_000246.4(CIITA):c.2113G>A (p.Glu705Lys) rs143304499
NM_000246.4(CIITA):c.2113G>C (p.Glu705Gln) rs143304499
NM_000246.4(CIITA):c.2515C>G (p.Arg839Gly) rs1175375174
NM_000246.4(CIITA):c.673G>A (p.Gly225Arg)
NM_000246.4(CIITA):c.929A>T (p.Asn310Ile) rs1567409783
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu) rs74806537
NM_000304.4(PMP22):c.362A>G (p.His121Arg) rs1567698985
NM_000383.3(AIRE):c.-653_-649dup rs1555871683
NM_000383.3(AIRE):c.-656_-655insCCC rs1016179869
NM_000383.3:c.995+(3_5)delGAGinsTAT
NM_000383.4(AIRE):c.-17_27del (p.Met1fs) rs2040477031
NM_000383.4(AIRE):c.-24_1del (p.Met1fs) rs1555871766
NM_000383.4(AIRE):c.-4C>A rs1004208577
NM_000383.4(AIRE):c.1001C>A (p.Thr334Asn)
NM_000383.4(AIRE):c.1002C>G (p.Thr334=) rs2146382261
NM_000383.4(AIRE):c.1002del (p.Trp335fs) rs769305771
NM_000383.4(AIRE):c.1008G>A (p.Arg336=) rs2146382269
NM_000383.4(AIRE):c.1010G>T (p.Cys337Phe)
NM_000383.4(AIRE):c.1012T>C (p.Ser338Pro)
NM_000383.4(AIRE):c.1017C>G (p.Ser339Arg)
NM_000383.4(AIRE):c.1017C>T (p.Ser339=) rs2040549304
NM_000383.4(AIRE):c.1020C>T (p.Cys340=)
NM_000383.4(AIRE):c.1023G>T (p.Leu341=) rs1352758309
NM_000383.4(AIRE):c.1026G>A (p.Gln342=)
NM_000383.4(AIRE):c.102C>A (p.Asp34Glu)
NM_000383.4(AIRE):c.102C>T (p.Asp34=)
NM_000383.4(AIRE):c.1034_1036delinsA (p.Val345fs)
NM_000383.4(AIRE):c.1035C>G (p.Val345=) rs1480626384
NM_000383.4(AIRE):c.1044G>T (p.Val348=)
NM_000383.4(AIRE):c.1045C>T (p.Gln349Ter)
NM_000383.4(AIRE):c.1049C>G (p.Pro350Arg) rs1013117342
NM_000383.4(AIRE):c.1051C>G (p.Arg351Gly) rs149078622
NM_000383.4(AIRE):c.1051C>T (p.Arg351Trp)
NM_000383.4(AIRE):c.1052G>A (p.Arg351Gln)
NM_000383.4(AIRE):c.1054_1068del (p.Ala352_Arg356del) rs1481102287
NM_000383.4(AIRE):c.1054_1068dup (p.Ala352_Arg356dup) rs1481102287
NM_000383.4(AIRE):c.1060G>T (p.Glu354Ter)
NM_000383.4(AIRE):c.1062G>A (p.Glu354=) rs867985822
NM_000383.4(AIRE):c.1064C>T (p.Pro355Leu)
NM_000383.4(AIRE):c.1065_1079del (p.Arg356_Pro360del) rs1555872876
NM_000383.4(AIRE):c.1066C>A (p.Arg356=)
NM_000383.4(AIRE):c.1066del (p.Arg356fs)
NM_000383.4(AIRE):c.1066dup (p.Arg356fs) rs1555872879
NM_000383.4(AIRE):c.1071C>T (p.Pro357=)
NM_000383.4(AIRE):c.1072C>T (p.Gln358Ter)
NM_000383.4(AIRE):c.1078_1089del (p.Pro360_Glu363del) rs1555872881
NM_000383.4(AIRE):c.107del (p.Asp36fs)
NM_000383.4(AIRE):c.1083C>G (p.Pro361=) rs201010030
NM_000383.4(AIRE):c.1084G>A (p.Val362Met) rs763954225
NM_000383.4(AIRE):c.1084G>T (p.Val362Leu) rs763954225
NM_000383.4(AIRE):c.1084del (p.Val362fs) rs1057517254
NM_000383.4(AIRE):c.1086G>A (p.Val362=)
NM_000383.4(AIRE):c.1089G>A (p.Glu363=) rs1317375627
NM_000383.4(AIRE):c.1089G>T (p.Glu363Asp)
NM_000383.4(AIRE):c.108C>G (p.Asp36Glu)
NM_000383.4(AIRE):c.1091C>A (p.Thr364Asn) rs757362732
NM_000383.4(AIRE):c.1091C>G (p.Thr364Ser)
NM_000383.4(AIRE):c.1091C>T (p.Thr364Ile) rs757362732
NM_000383.4(AIRE):c.1092C>G (p.Thr364=) rs1367419200
NM_000383.4(AIRE):c.1092C>T (p.Thr364=)
NM_000383.4(AIRE):c.1094_1095delinsTC (p.Pro365Leu)
NM_000383.4(AIRE):c.1095+10C>A rs372932833
NM_000383.4(AIRE):c.1095+16del
NM_000383.4(AIRE):c.1095+18C>T
NM_000383.4(AIRE):c.1095+19C>T
NM_000383.4(AIRE):c.1095+1G>A rs1022025101
NM_000383.4(AIRE):c.1095+1G>C
NM_000383.4(AIRE):c.1095+23_1095+64del rs1037154559
NM_000383.4(AIRE):c.1095+23_1095+64dup
NM_000383.4(AIRE):c.1095+4T>G
NM_000383.4(AIRE):c.1095+78del rs5844181
NM_000383.4(AIRE):c.1095+7C>A rs2146382492
NM_000383.4(AIRE):c.1095G>A (p.Pro365=) rs750688330
NM_000383.4(AIRE):c.1096-10T>C rs2146383145
NM_000383.4(AIRE):c.1096-12C>G
NM_000383.4(AIRE):c.1096-14C>T
NM_000383.4(AIRE):c.1096-20T>C
NM_000383.4(AIRE):c.1096-9G>T
NM_000383.4(AIRE):c.1100C>T (p.Pro367Leu)
NM_000383.4(AIRE):c.1101C>T (p.Pro367=)
NM_000383.4(AIRE):c.1102C>G (p.Pro368Ala) rs768381413
NM_000383.4(AIRE):c.1103dup (p.Leu370fs) rs387906293
NM_000383.4(AIRE):c.1111A>C (p.Arg371=) rs2146383235
NM_000383.4(AIRE):c.1116_1117del (p.Ala373fs) rs1057516411
NM_000383.4(AIRE):c.1119G>A (p.Ala373=) rs765586915
NM_000383.4(AIRE):c.1121G>T (p.Gly374Val)
NM_000383.4(AIRE):c.1121del (p.Gly374fs)
NM_000383.4(AIRE):c.1122A>C (p.Gly374=)
NM_000383.4(AIRE):c.1122_1123insCTGTCTCTTATACACATCT (p.Glu375delinsLeuSerLeuIleHisIleTer)
NM_000383.4(AIRE):c.1124A>G (p.Glu375Gly)
NM_000383.4(AIRE):c.1125G>A (p.Glu375=) rs1601969062
NM_000383.4(AIRE):c.1128G>C (p.Glu376Asp)
NM_000383.4(AIRE):c.1136G>A (p.Gly379Asp)
NM_000383.4(AIRE):c.1137T>C (p.Gly379=)
NM_000383.4(AIRE):c.1143_1144del (p.Glu383fs) rs746933095
NM_000383.4(AIRE):c.1146G>C (p.Gly382=) rs2146383342
NM_000383.4(AIRE):c.1149A>G (p.Glu383=) rs779589936
NM_000383.4(AIRE):c.114C>A (p.Val38=) rs1192858868
NM_000383.4(AIRE):c.114_115insAG (p.Pro39fs) rs2146375213
NM_000383.4(AIRE):c.1151C>T (p.Pro384Leu) rs1469479088
NM_000383.4(AIRE):c.1152C>A (p.Pro384=) rs2146383355
NM_000383.4(AIRE):c.1152C>T (p.Pro384=)
NM_000383.4(AIRE):c.1153C>T (p.Leu385=) rs748929295
NM_000383.4(AIRE):c.1155A>G (p.Leu385=) rs1391807242
NM_000383.4(AIRE):c.1158C>A (p.Ala386=)
NM_000383.4(AIRE):c.1158C>G (p.Ala386=) rs199555518
NM_000383.4(AIRE):c.1159G>A (p.Gly387Ser)
NM_000383.4(AIRE):c.1167C>T (p.Asp389=)
NM_000383.4(AIRE):c.116C>T (p.Pro39Leu)
NM_000383.4(AIRE):c.1175T>C (p.Leu392Pro)
NM_000383.4(AIRE):c.1179C>G (p.Val393=) rs752897977
NM_000383.4(AIRE):c.117C>G (p.Pro39=) rs1033297636
NM_000383.4(AIRE):c.117del (p.Glu40fs) rs1248788128
NM_000383.4(AIRE):c.1181A>G (p.Tyr394Cys) rs763440543
NM_000383.4(AIRE):c.1182C>A (p.Tyr394Ter) rs1482020075
NM_000383.4(AIRE):c.1192_1196dup (p.Pro400fs) rs2146383463
NM_000383.4(AIRE):c.1193del (p.Pro398fs) rs1555872988
NM_000383.4(AIRE):c.1195G>T (p.Ala399Ser)
NM_000383.4(AIRE):c.1196C>A (p.Ala399Asp)
NM_000383.4(AIRE):c.1196_1197delinsAC (p.Ala399Asp) rs2040560125
NM_000383.4(AIRE):c.11A>T (p.Asp4Val) rs2146375006
NM_000383.4(AIRE):c.1202C>G (p.Pro401Arg)
NM_000383.4(AIRE):c.1206T>C (p.Ser402=) rs1327799658
NM_000383.4(AIRE):c.1207G>A (p.Ala403Thr) rs543891914
NM_000383.4(AIRE):c.1209_1213dup (p.Pro405fs) rs1555872997
NM_000383.4(AIRE):c.1214C>A (p.Pro405Gln)
NM_000383.4(AIRE):c.1214del (p.Pro405fs) rs2040560523
NM_000383.4(AIRE):c.1215G>T (p.Pro405=) rs72650676
NM_000383.4(AIRE):c.1218G>A (p.Leu406=)
NM_000383.4(AIRE):c.121G>A (p.Asp41Asn)
NM_000383.4(AIRE):c.1220C>G (p.Pro407Arg) rs2146383548
NM_000383.4(AIRE):c.1224G>A (p.Gly408=)
NM_000383.4(AIRE):c.1225C>T (p.Leu409=) rs1264168197
NM_000383.4(AIRE):c.1227G>A (p.Leu409=) rs762289753
NM_000383.4(AIRE):c.122A>G (p.Asp41Gly)
NM_000383.4(AIRE):c.1230C>T (p.Asp410=) rs2146383558
NM_000383.4(AIRE):c.1233del (p.Ser412fs) rs2146383573
NM_000383.4(AIRE):c.1235del (p.Ser412fs)
NM_000383.4(AIRE):c.1239C>T (p.Ala413=) rs2146383603
NM_000383.4(AIRE):c.123C>T (p.Asp41=)
NM_000383.4(AIRE):c.1242G>A (p.Leu414=)
NM_000383.4(AIRE):c.1245C>T (p.His415=)
NM_000383.4(AIRE):c.1248C>A (p.Pro416=) rs74162064
NM_000383.4(AIRE):c.1249C>A (p.Leu417Ile) rs1248107084
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1250_1251insTCTCCTCGGCCCTGCACCCCCT (p.Cys419fs) rs2146383561
NM_000383.4(AIRE):c.1252C>T (p.Leu418=)
NM_000383.4(AIRE):c.1256G>A (p.Cys419Tyr) rs756933733
NM_000383.4(AIRE):c.1256G>T (p.Cys419Phe) rs756933733
NM_000383.4(AIRE):c.1257T>A (p.Cys419Ter) rs2040561421
NM_000383.4(AIRE):c.1259_1260del (p.Val420fs) rs759281545
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.1267G>T (p.Glu423Ter)
NM_000383.4(AIRE):c.126G>A (p.Lys42=)
NM_000383.4(AIRE):c.1271G>T (p.Gly424Val)
NM_000383.4(AIRE):c.1271del (p.Gly424fs)
NM_000383.4(AIRE):c.1273C>T (p.Gln425Ter) rs1601969308
NM_000383.4(AIRE):c.1278+10G>C
NM_000383.4(AIRE):c.1278+12G>A rs371283816
NM_000383.4(AIRE):c.1278+12G>T
NM_000383.4(AIRE):c.1278+13T>C
NM_000383.4(AIRE):c.1278+16G>A
NM_000383.4(AIRE):c.1278+18G>A
NM_000383.4(AIRE):c.1278+1del rs996389327
NM_000383.4(AIRE):c.1278+5dup rs2146383693
NM_000383.4(AIRE):c.1278+7G>A rs564103678
NM_000383.4(AIRE):c.1278+7G>C
NM_000383.4(AIRE):c.1278+8G>A
NM_000383.4(AIRE):c.1279-12T>G
NM_000383.4(AIRE):c.1279-17G>A
NM_000383.4(AIRE):c.1279-20C>G
NM_000383.4(AIRE):c.1279-2A>G rs1555873087
NM_000383.4(AIRE):c.1279-4A>G
NM_000383.4(AIRE):c.1279-5C>A
NM_000383.4(AIRE):c.1279-9C>T rs371186900
NM_000383.4(AIRE):c.1285G>T (p.Ala429Ser)
NM_000383.4(AIRE):c.1290T>G (p.Pro430=)
NM_000383.4(AIRE):c.1298G>A (p.Arg433His)
NM_000383.4(AIRE):c.1299T>C (p.Arg433=) rs780148497
NM_000383.4(AIRE):c.1299T>G (p.Arg433=)
NM_000383.4(AIRE):c.12C>T (p.Asp4=) rs768696010
NM_000383.4(AIRE):c.1302C>A (p.Cys434Ter)
NM_000383.4(AIRE):c.1302C>G (p.Cys434Trp)
NM_000383.4(AIRE):c.1305G>A (p.Gly435=) rs2146384547
NM_000383.4(AIRE):c.1310G>A (p.Cys437Tyr)
NM_000383.4(AIRE):c.1311C>A (p.Cys437Ter)
NM_000383.4(AIRE):c.1316_1334del (p.Asp439fs)
NM_000383.4(AIRE):c.1317T>C (p.Asp439=) rs1474485684
NM_000383.4(AIRE):c.1317T>G (p.Asp439Glu)
NM_000383.4(AIRE):c.131A>C (p.Gln44Pro)
NM_000383.4(AIRE):c.132+11C>T rs2146375260
NM_000383.4(AIRE):c.132+12G>A
NM_000383.4(AIRE):c.132+12G>C
NM_000383.4(AIRE):c.132+15C>A
NM_000383.4(AIRE):c.132+15C>G
NM_000383.4(AIRE):c.132+15C>T rs780730527
NM_000383.4(AIRE):c.132+16G>C rs1272044102
NM_000383.4(AIRE):c.132+1_132+3delinsCT rs886041293
NM_000383.4(AIRE):c.132+22del
NM_000383.4(AIRE):c.132+2T>C
NM_000383.4(AIRE):c.132+8C>G rs1568926049
NM_000383.4(AIRE):c.132+8C>T
NM_000383.4(AIRE):c.1321A>G (p.Thr441Ala) rs768250058
NM_000383.4(AIRE):c.1323G>C (p.Thr441=)
NM_000383.4(AIRE):c.1327G>C (p.Val443Leu)
NM_000383.4(AIRE):c.1329G>T (p.Val443=) rs370017667
NM_000383.4(AIRE):c.133-126_539-180del
NM_000383.4(AIRE):c.133-14C>A
NM_000383.4(AIRE):c.133-15G>A
NM_000383.4(AIRE):c.133-16T>C
NM_000383.4(AIRE):c.133-18C>T
NM_000383.4(AIRE):c.133-20C>T
NM_000383.4(AIRE):c.133-4G>A
NM_000383.4(AIRE):c.133-6C>T
NM_000383.4(AIRE):c.133-8C>T rs753084849
NM_000383.4(AIRE):c.133-9C>T
NM_000383.4(AIRE):c.1330C>T (p.Leu444=) rs1221626097
NM_000383.4(AIRE):c.1332G>T (p.Leu444=)
NM_000383.4(AIRE):c.1335G>C (p.Arg445=)
NM_000383.4(AIRE):c.1336T>G (p.Cys446Gly) rs1555873106
NM_000383.4(AIRE):c.1341T>C (p.Thr447=) rs2040573330
NM_000383.4(AIRE):c.1344C>G (p.His448Gln) rs201131119
NM_000383.4(AIRE):c.1350C>A (p.Ala450=)
NM_000383.4(AIRE):c.1351G>A (p.Ala451Thr)
NM_000383.4(AIRE):c.1353T>C (p.Ala451=) rs781502496
NM_000383.4(AIRE):c.1353T>G (p.Ala451=) rs781502496
NM_000383.4(AIRE):c.1354G>A (p.Ala452Thr) rs1480139411
NM_000383.4(AIRE):c.135G>A (p.Glu45=)
NM_000383.4(AIRE):c.1362C>T (p.His454=) rs2146384697
NM_000383.4(AIRE):c.1364G>A (p.Trp455Ter)
NM_000383.4(AIRE):c.1366C>T (p.Arg456Cys)
NM_000383.4(AIRE):c.1368C>T (p.Arg456=) rs2146384725
NM_000383.4(AIRE):c.136A>T (p.Thr46Ser) rs2146375707
NM_000383.4(AIRE):c.1373A>G (p.His458Arg) rs1601969955
NM_000383.4(AIRE):c.1380A>C (p.Pro460=)
NM_000383.4(AIRE):c.1383C>G (p.Ala461=)
NM_000383.4(AIRE):c.1384G>A (p.Gly462Ser)
NM_000383.4(AIRE):c.1384G>C (p.Gly462Arg)
NM_000383.4(AIRE):c.1386C>T (p.Gly462=)
NM_000383.4(AIRE):c.1387A>T (p.Thr463Ser)
NM_000383.4(AIRE):c.1389C>T (p.Thr463=) rs1464240052
NM_000383.4(AIRE):c.1391C>T (p.Ser464Phe) rs559428418
NM_000383.4(AIRE):c.1392C>G (p.Ser464=) rs759575621
NM_000383.4(AIRE):c.1393C>T (p.Arg465Trp)
NM_000383.4(AIRE):c.1394G>C (p.Arg465Pro)
NM_000383.4(AIRE):c.1395G>A (p.Arg465=)
NM_000383.4(AIRE):c.1396C>T (p.Pro466Ser) rs1411629170
NM_000383.4(AIRE):c.1398C>A (p.Pro466=)
NM_000383.4(AIRE):c.1398dup (p.Gly467fs)
NM_000383.4(AIRE):c.1399G>A (p.Gly467Arg) rs202018301
NM_000383.4(AIRE):c.1399G>C (p.Gly467Arg) rs202018301
NM_000383.4(AIRE):c.13G>A (p.Ala5Thr)
NM_000383.4(AIRE):c.13_14delinsTT (p.Ala5Leu) rs2146375021
NM_000383.4(AIRE):c.1400+10C>A rs372277949
NM_000383.4(AIRE):c.1400+11G>A
NM_000383.4(AIRE):c.1400+12T>C rs563869880
NM_000383.4(AIRE):c.1400+15T>A
NM_000383.4(AIRE):c.1400+16C>T
NM_000383.4(AIRE):c.1400+17G>T
NM_000383.4(AIRE):c.1400+19C>A
NM_000383.4(AIRE):c.1400+1G>A rs1469386000
NM_000383.4(AIRE):c.1400+20G>A
NM_000383.4(AIRE):c.1400+2T>C
NM_000383.4(AIRE):c.1400+4A>C rs2040574937
NM_000383.4(AIRE):c.1400+6T>A
NM_000383.4(AIRE):c.1400+9G>A rs2146384820
NM_000383.4(AIRE):c.1400G>C (p.Gly467Ala)
NM_000383.4(AIRE):c.1401-10T>G
NM_000383.4(AIRE):c.1401-16T>G
NM_000383.4(AIRE):c.1401-18C>T
NM_000383.4(AIRE):c.1401-19C>A
NM_000383.4(AIRE):c.1401-1G>A
NM_000383.4(AIRE):c.1401-28G>A rs1800526
NM_000383.4(AIRE):c.1401-4G>A rs2146385724
NM_000383.4(AIRE):c.1401-5T>C rs1206047355
NM_000383.4(AIRE):c.1401-5T>G
NM_000383.4(AIRE):c.1401-8T>C
NM_000383.4(AIRE):c.1401-9C>G
NM_000383.4(AIRE):c.1401G>T (p.Gly467=)
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1404G>C (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1404G>T (p.Thr468=)
NM_000383.4(AIRE):c.1406del (p.Gly469fs) rs2146385757
NM_000383.4(AIRE):c.1408C>T (p.Leu470=)
NM_000383.4(AIRE):c.1409T>C (p.Leu470Pro)
NM_000383.4(AIRE):c.1412G>A (p.Arg471His)
NM_000383.4(AIRE):c.1412del (p.Arg471fs)
NM_000383.4(AIRE):c.1415G>A (p.Cys472Tyr)
NM_000383.4(AIRE):c.1417A>C (p.Arg473=) rs2146385780
NM_000383.4(AIRE):c.1418G>C (p.Arg473Thr) rs750662701
NM_000383.4(AIRE):c.1422C>G (p.Ser474=)
NM_000383.4(AIRE):c.1427C>G (p.Ser476Ter)
NM_000383.4(AIRE):c.1429G>T (p.Gly477Ter) rs866898746
NM_000383.4(AIRE):c.1435G>A (p.Val479Met)
NM_000383.4(AIRE):c.1435G>T (p.Val479Leu)
NM_000383.4(AIRE):c.1438A>G (p.Thr480Ala)
NM_000383.4(AIRE):c.143_145del (p.His48del) rs1601964364
NM_000383.4(AIRE):c.1440C>A (p.Thr480=) rs1402478750
NM_000383.4(AIRE):c.1443A>G (p.Pro481=) rs2146385828
NM_000383.4(AIRE):c.1447C>A (p.Pro483Thr) rs780816581
NM_000383.4(AIRE):c.1447C>G (p.Pro483Ala)
NM_000383.4(AIRE):c.1448C>G (p.Pro483Arg) rs2146385840
NM_000383.4(AIRE):c.1449_1476del (p.Val484fs)
NM_000383.4(AIRE):c.1451T>C (p.Val484Ala)
NM_000383.4(AIRE):c.1452G>T (p.Val484=) rs2146385848
NM_000383.4(AIRE):c.1458G>T (p.Gly486=)
NM_000383.4(AIRE):c.1460T>C (p.Val487Ala)
NM_000383.4(AIRE):c.1464G>A (p.Leu488=) rs2146385885
NM_000383.4(AIRE):c.1464G>T (p.Leu488=)
NM_000383.4(AIRE):c.1466C>T (p.Ala489Val) rs2146385893
NM_000383.4(AIRE):c.1468C>T (p.Pro490Ser)
NM_000383.4(AIRE):c.1470_1490del (p.Ser491_Pro497del)
NM_000383.4(AIRE):c.1470dup (p.Ser491fs) rs1555873248
NM_000383.4(AIRE):c.1473C>T (p.Ser491=) rs761718813
NM_000383.4(AIRE):c.1474C>G (p.Pro492Ala)
NM_000383.4(AIRE):c.1476C>A (p.Pro492=) rs72650679
NM_000383.4(AIRE):c.1478C>G (p.Ala493Gly)
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs) rs1057517072
NM_000383.4(AIRE):c.1481G>T (p.Arg494Leu) rs528762050
NM_000383.4(AIRE):c.1490del (p.Pro497fs) rs750764323
NM_000383.4(AIRE):c.1491T>C (p.Pro497=) rs528761924
NM_000383.4(AIRE):c.1497T>C (p.Pro499=)
NM_000383.4(AIRE):c.1497T>G (p.Pro499=) rs926723773
NM_000383.4(AIRE):c.1497del (p.Ala500fs)
NM_000383.4(AIRE):c.149A>G (p.Lys50Arg)
NM_000383.4(AIRE):c.14_15del (p.Ala5fs) rs2146375012
NM_000383.4(AIRE):c.1503+10G>C
NM_000383.4(AIRE):c.1503+11C>T
NM_000383.4(AIRE):c.1503+13G>T
NM_000383.4(AIRE):c.1503+14G>A
NM_000383.4(AIRE):c.1503+16G>T
NM_000383.4(AIRE):c.1503+17C>T
NM_000383.4(AIRE):c.1503+18C>T
NM_000383.4(AIRE):c.1503+1G>A
NM_000383.4(AIRE):c.1503+1G>T rs1156582406
NM_000383.4(AIRE):c.1503+9C>A
NM_000383.4(AIRE):c.1504-13T>A
NM_000383.4(AIRE):c.1504-14_1504-13del
NM_000383.4(AIRE):c.1504-17T>C
NM_000383.4(AIRE):c.1504-18C>T
NM_000383.4(AIRE):c.1504-818G>A rs181779633
NM_000383.4(AIRE):c.1505A>T (p.Asp502Val) rs1444691231
NM_000383.4(AIRE):c.1512T>C (p.Thr504=) rs2040607807
NM_000383.4(AIRE):c.1513del (p.Ala505fs) rs387906294
NM_000383.4(AIRE):c.1515C>A (p.Ala505=)
NM_000383.4(AIRE):c.1517G>T (p.Ser506Ile)
NM_000383.4(AIRE):c.1521C>T (p.His507=) rs751968210
NM_000383.4(AIRE):c.1522G>T (p.Glu508Ter)
NM_000383.4(AIRE):c.1525C>T (p.Pro509Ser) rs999281375
NM_000383.4(AIRE):c.1528G>A (p.Ala510Thr)
NM_000383.4(AIRE):c.1528G>C (p.Ala510Pro)
NM_000383.4(AIRE):c.1537A>G (p.Arg513Gly)
NM_000383.4(AIRE):c.1540del (p.Asp514fs) rs2146388096
NM_000383.4(AIRE):c.1545C>T (p.Asp515=) rs2146388098
NM_000383.4(AIRE):c.1549G>T (p.Glu517Ter) rs2040608439
NM_000383.4(AIRE):c.1553C>T (p.Ser518Phe)
NM_000383.4(AIRE):c.1554C>G (p.Ser518=)
NM_000383.4(AIRE):c.1554C>T (p.Ser518=) rs1432714738
NM_000383.4(AIRE):c.1555C>T (p.Leu519Phe)
NM_000383.4(AIRE):c.1558C>T (p.Leu520=)
NM_000383.4(AIRE):c.1563C>A (p.Ser521Arg) rs746873146
NM_000383.4(AIRE):c.1564G>A (p.Glu522Lys)
NM_000383.4(AIRE):c.1566+12C>A
NM_000383.4(AIRE):c.1566+12C>T
NM_000383.4(AIRE):c.1566+12_1566+13del
NM_000383.4(AIRE):c.1566+13C>T
NM_000383.4(AIRE):c.1566+14T>G
NM_000383.4(AIRE):c.1566+15G>A rs2040609241
NM_000383.4(AIRE):c.1566+18C>T
NM_000383.4(AIRE):c.1566+1G>C
NM_000383.4(AIRE):c.1566+2dup rs1057516811
NM_000383.4(AIRE):c.1566+4A>G
NM_000383.4(AIRE):c.1566+5C>T
NM_000383.4(AIRE):c.1566+6G>A
NM_000383.4(AIRE):c.1566+7C>A rs2146388160
NM_000383.4(AIRE):c.1566+9T>A rs2146388175
NM_000383.4(AIRE):c.1567-10T>C
NM_000383.4(AIRE):c.1567-17_1567-15dup rs2146389783
NM_000383.4(AIRE):c.1567-1G>A rs1601973101
NM_000383.4(AIRE):c.1567-2A>G rs1555873650
NM_000383.4(AIRE):c.1575C>T (p.Phe525=) rs1399845704
NM_000383.4(AIRE):c.1578_1579inv (p.Gly527Ser)
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter) rs1057516272
NM_000383.4(AIRE):c.1581C>A (p.Gly527=)
NM_000383.4(AIRE):c.1587G>A (p.Leu529=) rs779142964
NM_000383.4(AIRE):c.1588C>T (p.Gln530Ter) rs1472708073
NM_000383.4(AIRE):c.1595C>T (p.Ala532Val)
NM_000383.4(AIRE):c.159G>A (p.Glu53=) rs1413552217
NM_000383.4(AIRE):c.15G>T (p.Ala5=)
NM_000383.4(AIRE):c.1605C>A (p.Ser535Arg) rs2146389859
NM_000383.4(AIRE):c.1608G>T (p.Met536Ile)
NM_000383.4(AIRE):c.1609G>C (p.Ala537Pro)
NM_000383.4(AIRE):c.1612del (p.Arg538fs) rs1555873662
NM_000383.4(AIRE):c.1613G>A (p.Arg538His)
NM_000383.4(AIRE):c.1615C>A (p.Pro539Thr)
NM_000383.4(AIRE):c.162C>G (p.Gly54=)
NM_000383.4(AIRE):c.1630C>A (p.Pro544Thr)
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser) rs1568932096
NM_000383.4(AIRE):c.167C>T (p.Pro56Leu) rs2040484477
NM_000383.4(AIRE):c.172G>A (p.Ala58Thr)
NM_000383.4(AIRE):c.173C>G (p.Ala58Gly) rs747941115
NM_000383.4(AIRE):c.174C>G (p.Ala58=)
NM_000383.4(AIRE):c.177C>T (p.Phe59=) rs2146375781
NM_000383.4(AIRE):c.181G>A (p.Ala61Thr)
NM_000383.4(AIRE):c.186C>G (p.Leu62=)
NM_000383.4(AIRE):c.186C>T (p.Leu62=)
NM_000383.4(AIRE):c.187C>A (p.Leu63Met)
NM_000383.4(AIRE):c.190_226del (p.Ser64fs)
NM_000383.4(AIRE):c.193_197dup (p.Leu67fs) rs2146375818
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000383.4(AIRE):c.202A>G (p.Thr68Ala)
NM_000383.4(AIRE):c.205C>T (p.Gln69Ter) rs2146375836
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) rs886041124
NM_000383.4(AIRE):c.20_115del (p.Leu7_Val38del)
NM_000383.4(AIRE):c.20_24del (p.Leu7fs) rs1555871777
NM_000383.4(AIRE):c.21A>C (p.Leu7=)
NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer) rs1601963938
NM_000383.4(AIRE):c.228C>T (p.Asp76=)
NM_000383.4(AIRE):c.233G>A (p.Trp78Ter) rs1057516499
NM_000383.4(AIRE):c.236G>C (p.Arg79Thr)
NM_000383.4(AIRE):c.237G>A (p.Arg79=)
NM_000383.4(AIRE):c.238G>A (p.Val80Met)
NM_000383.4(AIRE):c.239T>G (p.Val80Gly) rs267606642
NM_000383.4(AIRE):c.23G>A (p.Arg8His)
NM_000383.4(AIRE):c.240G>A (p.Val80=)
NM_000383.4(AIRE):c.241C>T (p.Leu81=)
NM_000383.4(AIRE):c.242T>C (p.Leu81Pro)
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu) rs121434255
NM_000383.4(AIRE):c.249G>A (p.Lys83=) rs2146375874
NM_000383.4(AIRE):c.24C>G (p.Arg8=)
NM_000383.4(AIRE):c.253_255del (p.Tyr85del) rs2146375885
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.255C>A (p.Tyr85Ter) rs1057516225
NM_000383.4(AIRE):c.259C>T (p.Leu87=)
NM_000383.4(AIRE):c.25C>T (p.Arg9Trp) rs1942959342
NM_000383.4(AIRE):c.260T>C (p.Leu87Pro) rs2040485564
NM_000383.4(AIRE):c.260del (p.Leu87fs) rs1057517428
NM_000383.4(AIRE):c.262G>T (p.Glu88Ter)
NM_000383.4(AIRE):c.266G>A (p.Arg89His) rs762267080
NM_000383.4(AIRE):c.266G>T (p.Arg89Leu)
NM_000383.4(AIRE):c.268T>C (p.Tyr90His) rs1555871902
NM_000383.4(AIRE):c.269A>G (p.Tyr90Cys) rs179363883
NM_000383.4(AIRE):c.273C>T (p.Gly91=)
NM_000383.4(AIRE):c.277C>T (p.Leu93=)
NM_000383.4(AIRE):c.278T>A (p.Leu93Gln)
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg) rs179363884
NM_000383.4(AIRE):c.27G>T (p.Arg9=)
NM_000383.4(AIRE):c.280C>T (p.Gln94Ter)
NM_000383.4(AIRE):c.282G>A (p.Gln94=) rs776836665
NM_000383.4(AIRE):c.283C>T (p.Pro95Ser)
NM_000383.4(AIRE):c.285C>T (p.Pro95=)
NM_000383.4(AIRE):c.286A>C (p.Ile96Leu) rs2146375950
NM_000383.4(AIRE):c.290T>C (p.Leu97Pro) rs2146375951
NM_000383.4(AIRE):c.291G>A (p.Leu97=)
NM_000383.4(AIRE):c.294C>T (p.Asp98=) rs2146375955
NM_000383.4(AIRE):c.297C>T (p.Ser99=)
NM_000383.4(AIRE):c.2T>A (p.Met1Lys) rs2146374989
NM_000383.4(AIRE):c.2T>C (p.Met1Thr)
NM_000383.4(AIRE):c.2T>G (p.Met1Arg) rs2146374989
NM_000383.4(AIRE):c.303C>T (p.Pro101=)
NM_000383.4(AIRE):c.307+10G>T
NM_000383.4(AIRE):c.307+11G>A
NM_000383.4(AIRE):c.307+17T>C
NM_000383.4(AIRE):c.307+18C>T rs562210054
NM_000383.4(AIRE):c.307+2T>G rs2146375964
NM_000383.4(AIRE):c.307+9_307+10delinsAT rs2146375974
NM_000383.4(AIRE):c.308-11C>G
NM_000383.4(AIRE):c.308-14_308-9dup
NM_000383.4(AIRE):c.308-18C>T
NM_000383.4(AIRE):c.308-3C>T
NM_000383.4(AIRE):c.308-6C>T
NM_000383.4(AIRE):c.308-7G>T
NM_000383.4(AIRE):c.310G>A (p.Val104Met)
NM_000383.4(AIRE):c.312G>A (p.Val104=)
NM_000383.4(AIRE):c.319_321delinsTG (p.Ser107fs) rs1555871928
NM_000383.4(AIRE):c.322C>T (p.Gln108Ter) rs1472808103
NM_000383.4(AIRE):c.324G>A (p.Gln108=)
NM_000383.4(AIRE):c.325C>G (p.Pro109Ala)
NM_000383.4(AIRE):c.326C>T (p.Pro109Leu)
NM_000383.4(AIRE):c.328del (p.Arg110fs) rs1162316051
NM_000383.4(AIRE):c.329G>A (p.Arg110Gln)
NM_000383.4(AIRE):c.332A>C (p.Lys111Thr)
NM_000383.4(AIRE):c.333G>A (p.Lys111=)
NM_000383.4(AIRE):c.336G>A (p.Gly112=)
NM_000383.4(AIRE):c.336G>T (p.Gly112=)
NM_000383.4(AIRE):c.339G>A (p.Arg113=) rs2040488791
NM_000383.4(AIRE):c.340A>T (p.Lys114Ter) rs2146376221
NM_000383.4(AIRE):c.347del (p.Pro116fs) rs1568926472
NM_000383.4(AIRE):c.348G>C (p.Pro116=) rs74162060
NM_000383.4(AIRE):c.348G>T (p.Pro116=)
NM_000383.4(AIRE):c.349del (p.Ala117fs)
NM_000383.4(AIRE):c.354C>A (p.Val118=) rs528667089
NM_000383.4(AIRE):c.354C>T (p.Val118=) rs528667089
NM_000383.4(AIRE):c.355C>A (p.Pro119Thr)
NM_000383.4(AIRE):c.364T>C (p.Leu122=)
NM_000383.4(AIRE):c.36del (p.Arg12fs) rs2146375064
NM_000383.4(AIRE):c.375A>G (p.Pro125=) rs2146376299
NM_000383.4(AIRE):c.378C>T (p.Pro126=)
NM_000383.4(AIRE):c.384C>T (p.Leu128=) rs2146376310
NM_000383.4(AIRE):c.387C>T (p.Pro129=) rs762735482
NM_000383.4(AIRE):c.390C>A (p.Thr130=) rs2040489548
NM_000383.4(AIRE):c.390C>T (p.Thr130=)
NM_000383.4(AIRE):c.402C>T (p.Ala134=) rs2146376334
NM_000383.4(AIRE):c.415C>G (p.Arg139Gly)
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.4(AIRE):c.416G>C (p.Arg139Pro) rs201965760
NM_000383.4(AIRE):c.41A>C (p.His14Pro)
NM_000383.4(AIRE):c.420T>C (p.Ala140=) rs2146376372
NM_000383.4(AIRE):c.423C>A (p.Ala141=)
NM_000383.4(AIRE):c.425C>T (p.Ala142Val)
NM_000383.4(AIRE):c.42C>T (p.His14=) rs2146375067
NM_000383.4(AIRE):c.438G>A (p.Leu146=) rs2146376401
NM_000383.4(AIRE):c.43C>G (p.Arg15Gly) rs179363875
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000383.4(AIRE):c.440C>T (p.Thr147Ile)
NM_000383.4(AIRE):c.443C>T (p.Pro148Leu)
NM_000383.4(AIRE):c.444A>C (p.Pro148=) rs2146376404
NM_000383.4(AIRE):c.449del (p.Gly150fs)
NM_000383.4(AIRE):c.44G>A (p.Arg15His) rs179363876
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu) rs179363876
NM_000383.4(AIRE):c.453C>A (p.Thr151=)
NM_000383.4(AIRE):c.457_458delinsC (p.Ser153fs) rs1057516314
NM_000383.4(AIRE):c.45C>T (p.Arg15=)
NM_000383.4(AIRE):c.461C>T (p.Pro154Leu)
NM_000383.4(AIRE):c.463+10C>T
NM_000383.4(AIRE):c.463+12G>T
NM_000383.4(AIRE):c.463+13C>A
NM_000383.4(AIRE):c.463+5C>A
NM_000383.4(AIRE):c.463+5C>T rs569224551
NM_000383.4(AIRE):c.463+6C>G rs2146376456
NM_000383.4(AIRE):c.463+7del
NM_000383.4(AIRE):c.464-16C>T
NM_000383.4(AIRE):c.464-16del
NM_000383.4(AIRE):c.464-17C>T
NM_000383.4(AIRE):c.464-20C>T
NM_000383.4(AIRE):c.464-2A>T rs1032171597
NM_000383.4(AIRE):c.464-6A>C
NM_000383.4(AIRE):c.464-7C>A
NM_000383.4(AIRE):c.464-7C>T rs768310786
NM_000383.4(AIRE):c.464-8C>G rs1254160382
NM_000383.4(AIRE):c.467C>T (p.Ser156Phe)
NM_000383.4(AIRE):c.469C>T (p.Gln157Ter) rs1488613451
NM_000383.4(AIRE):c.46A>G (p.Thr16Ala)
NM_000383.4(AIRE):c.46_63dup (p.Thr16_Ala21dup) rs2040477781
NM_000383.4(AIRE):c.471A>G (p.Gln157=)
NM_000383.4(AIRE):c.472C>T (p.Leu158=)
NM_000383.4(AIRE):c.473T>C (p.Leu158Pro) rs2040495001
NM_000383.4(AIRE):c.476A>G (p.Lys159Arg)
NM_000383.4(AIRE):c.478G>A (p.Ala160Thr) rs1568926733
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) rs179363877
NM_000383.4(AIRE):c.481A>T (p.Lys161Ter) rs2040495130
NM_000383.4(AIRE):c.481_486del (p.Lys161_Pro162del)
NM_000383.4(AIRE):c.483G>A (p.Lys161=) rs2040495155
NM_000383.4(AIRE):c.487_489delinsA (p.Pro163fs)
NM_000383.4(AIRE):c.488C>T (p.Pro163Leu)
NM_000383.4(AIRE):c.489del (p.Lys164fs) rs746101086
NM_000383.4(AIRE):c.489dup (p.Lys164fs) rs746101086
NM_000383.4(AIRE):c.48G>C (p.Thr16=) rs2146375080
NM_000383.4(AIRE):c.491A>G (p.Lys164Arg)
NM_000383.4(AIRE):c.494A>G (p.Lys165Arg)
NM_000383.4(AIRE):c.496_497insA (p.Pro166fs)
NM_000383.4(AIRE):c.507C>G (p.Ser169Arg)
NM_000383.4(AIRE):c.508G>A (p.Ala170Thr)
NM_000383.4(AIRE):c.508_517dup (p.Gln173fs) rs1179261094
NM_000383.4(AIRE):c.510_522del (p.Glu171fs) rs940485051
NM_000383.4(AIRE):c.510_522dup (p.Leu175fs) rs940485051
NM_000383.4(AIRE):c.512_516dup (p.Gln173fs) rs1555872060
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.519G>A (p.Gln173=) rs2146376946
NM_000383.4(AIRE):c.520C>G (p.Arg174Gly) rs752687905
NM_000383.4(AIRE):c.524T>C (p.Leu175Pro) rs972262344
NM_000383.4(AIRE):c.527C>T (p.Pro176Leu) rs375658223
NM_000383.4(AIRE):c.531C>A (p.Leu177=)
NM_000383.4(AIRE):c.537C>T (p.Asn179=)
NM_000383.4(AIRE):c.538+10G>T
NM_000383.4(AIRE):c.538+14A>C
NM_000383.4(AIRE):c.538+9G>T
NM_000383.4(AIRE):c.539-14G>A
NM_000383.4(AIRE):c.539-15T>C
NM_000383.4(AIRE):c.539-17G>A
NM_000383.4(AIRE):c.539-18G>A
NM_000383.4(AIRE):c.539-20A>G
NM_000383.4(AIRE):c.539-2A>G rs2146377702
NM_000383.4(AIRE):c.539-6T>G
NM_000383.4(AIRE):c.539-8T>C
NM_000383.4(AIRE):c.539-9C>A
NM_000383.4(AIRE):c.539-9C>T rs757848836
NM_000383.4(AIRE):c.539_540delinsAT (p.Gly180Asp) rs2146377706
NM_000383.4(AIRE):c.545A>C (p.Gln182Pro) rs2040502920
NM_000383.4(AIRE):c.546_547dup (p.Thr183fs)
NM_000383.4(AIRE):c.54C>G (p.Ile18Met)
NM_000383.4(AIRE):c.550A>G (p.Met184Val) rs2146377723
NM_000383.4(AIRE):c.551T>C (p.Met184Thr)
NM_000383.4(AIRE):c.55G>A (p.Ala19Thr) rs1555871798
NM_000383.4(AIRE):c.560C>G (p.Ser187Ter) rs143952576
NM_000383.4(AIRE):c.564C>A (p.Val188=) rs201650973
NM_000383.4(AIRE):c.580A>G (p.Met194Val)
NM_000383.4(AIRE):c.581T>C (p.Met194Thr) rs1351412367
NM_000383.4(AIRE):c.599dup (p.Ala202fs) rs1213326298
NM_000383.4(AIRE):c.600G>C (p.Pro200=)
NM_000383.4(AIRE):c.603A>G (p.Gly201=)
NM_000383.4(AIRE):c.615C>G (p.Ala205=) rs143784684
NM_000383.4(AIRE):c.616G>A (p.Val206Met)
NM_000383.4(AIRE):c.619G>A (p.Glu207Lys)
NM_000383.4(AIRE):c.619G>T (p.Glu207Ter)
NM_000383.4(AIRE):c.61del (p.Ala21fs)
NM_000383.4(AIRE):c.621G>A (p.Glu207=)
NM_000383.4(AIRE):c.637C>G (p.Gln213Glu) rs1029475010
NM_000383.4(AIRE):c.63C>A (p.Ala21=) rs371796437
NM_000383.4(AIRE):c.63C>G (p.Ala21=) rs371796437
NM_000383.4(AIRE):c.640G>A (p.Val214Met) rs369232026
NM_000383.4(AIRE):c.645T>C (p.Phe215=)
NM_000383.4(AIRE):c.652+12G>A
NM_000383.4(AIRE):c.652+18G>A
NM_000383.4(AIRE):c.652+2T>C rs1555872272
NM_000383.4(AIRE):c.652+6C>T
NM_000383.4(AIRE):c.652+9T>C rs2146377909
NM_000383.4(AIRE):c.653-10C>T rs760848364
NM_000383.4(AIRE):c.653-12A>G
NM_000383.4(AIRE):c.653-13C>T
NM_000383.4(AIRE):c.653-15G>T
NM_000383.4(AIRE):c.653-20C>T
NM_000383.4(AIRE):c.653-8C>T
NM_000383.4(AIRE):c.654C>A (p.Gly218=) rs146377356
NM_000383.4(AIRE):c.654C>T (p.Gly218=) rs146377356
NM_000383.4(AIRE):c.657C>A (p.Gly219=)
NM_000383.4(AIRE):c.657C>T (p.Gly219=) rs2146379141
NM_000383.4(AIRE):c.660C>T (p.Ser220=)
NM_000383.4(AIRE):c.66G>T (p.Val22=)
NM_000383.4(AIRE):c.672C>T (p.Ile224=)
NM_000383.4(AIRE):c.680_681delinsAT (p.Gly227Asp) rs2146379169
NM_000383.4(AIRE):c.681C>G (p.Gly227=) rs1055311
NM_000383.4(AIRE):c.682G>T (p.Gly228Trp) rs121434257
NM_000383.4(AIRE):c.685del (p.Glu229fs)
NM_000383.4(AIRE):c.687G>A (p.Glu229=)
NM_000383.4(AIRE):c.68A>G (p.Asp23Gly) rs2040478254
NM_000383.4(AIRE):c.693C>T (p.Tyr231=) rs1601966572
NM_000383.4(AIRE):c.696T>C (p.Thr232=)
NM_000383.4(AIRE):c.699C>T (p.Pro233=) rs2146379208
NM_000383.4(AIRE):c.708C>T (p.Phe236=) rs908180454
NM_000383.4(AIRE):c.708_709del (p.Phe236fs)
NM_000383.4(AIRE):c.709G>T (p.Glu237Ter)
NM_000383.4(AIRE):c.712G>C (p.Asp238His)
NM_000383.4(AIRE):c.713A>C (p.Asp238Ala)
NM_000383.4(AIRE):c.716C>A (p.Ser239Tyr) rs2146379236
NM_000383.4(AIRE):c.717C>G (p.Ser239=) rs149130190
NM_000383.4(AIRE):c.722G>T (p.Ser241Ile)
NM_000383.4(AIRE):c.723T>C (p.Ser241=)
NM_000383.4(AIRE):c.727A>G (p.Lys243Glu) rs2040517102
NM_000383.4(AIRE):c.729G>A (p.Lys243=)
NM_000383.4(AIRE):c.72C>T (p.Ser24=)
NM_000383.4(AIRE):c.733A>G (p.Lys245Glu)
NM_000383.4(AIRE):c.734A>G (p.Lys245Arg)
NM_000383.4(AIRE):c.739C>T (p.Arg247Cys)
NM_000383.4(AIRE):c.741C>A (p.Arg247=) rs1417017303
NM_000383.4(AIRE):c.741C>T (p.Arg247=)
NM_000383.4(AIRE):c.742A>G (p.Ser248Gly)
NM_000383.4(AIRE):c.747C>T (p.Ser249=)
NM_000383.4(AIRE):c.747del (p.Ser249fs) rs2146379302
NM_000383.4(AIRE):c.756G>T (p.Pro252=) rs765738882
NM_000383.4(AIRE):c.759G>A (p.Lys253=) rs2146379321
NM_000383.4(AIRE):c.766G>A (p.Val256Ile) rs753558091
NM_000383.4(AIRE):c.768del (p.Arg257fs)
NM_000383.4(AIRE):c.773C>G (p.Ala258Gly) rs1388835954
NM_000383.4(AIRE):c.774C>T (p.Ala258=) rs2040517869
NM_000383.4(AIRE):c.775A>T (p.Lys259Ter)
NM_000383.4(AIRE):c.783C>A (p.Ala261=)
NM_000383.4(AIRE):c.783C>T (p.Ala261=) rs777866382
NM_000383.4(AIRE):c.784C>T (p.Gln262Ter) rs2146379356
NM_000383.4(AIRE):c.785A>G (p.Gln262Arg) rs2040517979
NM_000383.4(AIRE):c.789C>G (p.Gly263=)
NM_000383.4(AIRE):c.78C>T (p.Phe26=) rs1443107040
NM_000383.4(AIRE):c.795C>T (p.Ala265=) rs201171818
NM_000383.4(AIRE):c.798+10T>C
NM_000383.4(AIRE):c.798+12_798+21del rs1456310412
NM_000383.4(AIRE):c.798+14C>A
NM_000383.4(AIRE):c.798+14C>T
NM_000383.4(AIRE):c.798+17C>G
NM_000383.4(AIRE):c.798+17C>T
NM_000383.4(AIRE):c.798+19C>G
NM_000383.4(AIRE):c.798+1G>C rs138489664
NM_000383.4(AIRE):c.798+1G>T rs138489664
NM_000383.4(AIRE):c.798+8C>T
NM_000383.4(AIRE):c.798C>G (p.Pro266=) rs41277550
NM_000383.4(AIRE):c.798C>T (p.Pro266=) rs41277550
NM_000383.4(AIRE):c.798dup (p.Gly267fs)
NM_000383.4(AIRE):c.799-16C>T
NM_000383.4(AIRE):c.799-17G>A rs72650675
NM_000383.4(AIRE):c.799-6T>C rs2146379591
NM_000383.4(AIRE):c.799-8C>T
NM_000383.4(AIRE):c.804A>G (p.Gly268=) rs2146379604
NM_000383.4(AIRE):c.809_810del (p.Glu270fs) rs1057517268
NM_000383.4(AIRE):c.816G>T (p.Arg272Ser) rs1568927979
NM_000383.4(AIRE):c.817C>T (p.Leu273=) rs372819974
NM_000383.4(AIRE):c.819G>T (p.Leu273=) rs756188438
NM_000383.4(AIRE):c.822C>T (p.Gly274=)
NM_000383.4(AIRE):c.823del (p.Gln275fs) rs764819068
NM_000383.4(AIRE):c.827A>G (p.Gln276Arg)
NM_000383.4(AIRE):c.828G>A (p.Gln276=) rs2146379663
NM_000383.4(AIRE):c.831C>T (p.Gly277=) rs1180944731
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000383.4(AIRE):c.834C>T (p.Ser278=) rs1800520
NM_000383.4(AIRE):c.837T>C (p.Val279=)
NM_000383.4(AIRE):c.850G>A (p.Ala284Thr) rs1311252316
NM_000383.4(AIRE):c.851C>G (p.Ala284Gly)
NM_000383.4(AIRE):c.852C>T (p.Ala284=)
NM_000383.4(AIRE):c.858C>A (p.Pro286=) rs1314044062
NM_000383.4(AIRE):c.865C>A (p.Pro289Thr)
NM_000383.4(AIRE):c.867C>G (p.Pro289=)
NM_000383.4(AIRE):c.867C>T (p.Pro289=)
NM_000383.4(AIRE):c.868C>T (p.Gln290Ter)
NM_000383.4(AIRE):c.868del (p.Gln290fs) rs2146379725
NM_000383.4(AIRE):c.86T>C (p.Leu29Pro) rs179363879
NM_000383.4(AIRE):c.876C>T (p.His292=)
NM_000383.4(AIRE):c.878del (p.Gln293fs)
NM_000383.4(AIRE):c.879+11A>G rs1601966929
NM_000383.4(AIRE):c.879+14C>T
NM_000383.4(AIRE):c.879+15C>T
NM_000383.4(AIRE):c.879+17C>T
NM_000383.4(AIRE):c.879+20G>A
NM_000383.4(AIRE):c.879+7C>T
NM_000383.4(AIRE):c.879+7_879+8insA
NM_000383.4(AIRE):c.879+8C>A
NM_000383.4(AIRE):c.879+8C>T rs760555624
NM_000383.4(AIRE):c.87G>A (p.Leu29=) rs2146375160
NM_000383.4(AIRE):c.880-11G>A
NM_000383.4(AIRE):c.880-16C>T
NM_000383.4(AIRE):c.880-19C>A
NM_000383.4(AIRE):c.880-19C>T rs768876713
NM_000383.4(AIRE):c.880-20G>A
NM_000383.4(AIRE):c.880-451G>A rs267606153
NM_000383.4(AIRE):c.880-6T>C
NM_000383.4(AIRE):c.880-7G>T rs141955483
NM_000383.4(AIRE):c.880-9C>T
NM_000383.4(AIRE):c.880A>T (p.Lys294Ter) rs2040534254
NM_000383.4(AIRE):c.882G>A (p.Lys294=) rs2146380881
NM_000383.4(AIRE):c.889G>A (p.Asp297Asn) rs2040534355
NM_000383.4(AIRE):c.899C>A (p.Ala300Asp) rs868756561
NM_000383.4(AIRE):c.899C>T (p.Ala300Val) rs868756561
NM_000383.4(AIRE):c.901G>C (p.Val301Leu)
NM_000383.4(AIRE):c.903G>C (p.Val301=) rs1368560349
NM_000383.4(AIRE):c.907C>T (p.Arg303Trp)
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg) rs754932526
NM_000383.4(AIRE):c.924C>T (p.Leu308=)
NM_000383.4(AIRE):c.925A>G (p.Ile309Val) rs936714310
NM_000383.4(AIRE):c.930C>T (p.Cys310=) rs2146380972
NM_000383.4(AIRE):c.931del (p.Cys311fs) rs1555872755
NM_000383.4(AIRE):c.932G>A (p.Cys311Tyr) rs386833674
NM_000383.4(AIRE):c.933T>A (p.Cys311Ter)
NM_000383.4(AIRE):c.93G>C (p.Ala31=)
NM_000383.4(AIRE):c.946C>G (p.Arg316Gly)
NM_000383.4(AIRE):c.946C>T (p.Arg316Trp)
NM_000383.4(AIRE):c.948G>A (p.Arg316=)
NM_000383.4(AIRE):c.958del (p.Leu320fs) rs1568928525
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.969G>C (p.Leu323=)
NM_000383.4(AIRE):c.969_975del (p.Ser324fs) rs2146381019
NM_000383.4(AIRE):c.96G>C (p.Leu32=)
NM_000383.4(AIRE):c.977del (p.Pro326fs) rs1057517011
NM_000383.4(AIRE):c.978G>A (p.Pro326=) rs972756453
NM_000383.4(AIRE):c.981C>T (p.Leu327=)
NM_000383.4(AIRE):c.984G>A (p.Arg328=) rs2146381050
NM_000383.4(AIRE):c.985G>A (p.Glu329Lys)
NM_000383.4(AIRE):c.987G>A (p.Glu329=) rs2146381060
NM_000383.4(AIRE):c.995+11_995+18del
NM_000383.4(AIRE):c.995+12C>A
NM_000383.4(AIRE):c.995+12C>T
NM_000383.4(AIRE):c.995+15C>T
NM_000383.4(AIRE):c.995+1G>A
NM_000383.4(AIRE):c.995+1G>C
NM_000383.4(AIRE):c.995+3_995+5delinsTAT rs2040536458
NM_000383.4(AIRE):c.996-14G>A
NM_000383.4(AIRE):c.996-15T>C
NM_000383.4(AIRE):c.996-1G>A
NM_000383.4(AIRE):c.996-20_996-17del
NM_000383.4(AIRE):c.996-4G>A rs1057104935
NM_000383.4(AIRE):c.996-6G>A rs781400305
NM_000383.4(AIRE):c.996-7C>A rs568895777
NM_000383.4(AIRE):c.996-9C>T
NM_000383.4(AIRE):c.999G>A (p.Gly333=)
NM_000383.4(AIRE):c.999G>T (p.Gly333=) rs1445602810
NM_000383.4(AIRE):c.9G>A (p.Thr3=)
NM_000383.4(AIRE):c.9G>C (p.Thr3=)
NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1310-2A>G rs2135847311
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del) rs544842497
NM_000545.8(HNF1A):c.1501+1G>A rs1131692182
NM_000545.8(HNF1A):c.1609A>G (p.Thr537Ala)
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met) rs372624970
NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro) rs1877318918
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr) rs2135854619
NM_000545.8(HNF1A):c.498C>T (p.Tyr166=) rs1876675633
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser) rs765829022
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr) rs151256267
NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala) rs151256267
NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu) rs193922606
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000639.3(FASLG):c.*601GT[13] rs10640513
NM_000639.3(FASLG):c.*601GT[14] rs10640513
NM_000639.3(FASLG):c.*601GT[17] rs10640513
NM_000639.3(FASLG):c.*601GT[18] rs10640513
NM_000639.3(FASLG):c.*601GT[19] rs10640513
NM_000639.3(FASLG):c.135A>G (p.Pro45=)
NM_000639.3(FASLG):c.135ACC[2] (p.Pro52_Pro53del)
NM_000639.3(FASLG):c.135ACC[3] (p.Pro53del) rs750792722
NM_000639.3(FASLG):c.144_152del (p.Pro51_Pro53del) rs777390517
NM_000639.3(FASLG):c.146C>T (p.Pro49Leu)
NM_000639.3(FASLG):c.147GCCACC[1] (p.Pro52_Pro53del) rs749237778
NM_000639.3(FASLG):c.147GCCACC[3] (p.Pro52_Pro53dup) rs749237778
NM_000639.3(FASLG):c.152C>A (p.Pro51Gln)
NM_000639.3(FASLG):c.156_179dup (p.Leu54_Pro61dup) rs1659086365
NM_000639.3(FASLG):c.162_188dup (p.Pro65_Leu66insProProProProProProLeuProPro)
NM_000639.3(FASLG):c.171GCC[2] (p.Pro61_Pro62del) rs772297337
NM_000639.3(FASLG):c.171GCC[5] (p.Pro62_Leu63insPro)
NM_000639.3(FASLG):c.174G>C (p.Pro58=)
NM_000639.3(FASLG):c.190_213dup (p.Pro64_Leu71dup) rs1165102233
NM_000639.3(FASLG):c.200C>A (p.Pro67Gln)
NM_000639.3(FASLG):c.203dup (p.Pro69fs) rs2101806549
NM_000639.3(FASLG):c.207A>G (p.Pro69=) rs769398033
NM_000639.3(FASLG):c.209C>G (p.Pro70Arg) rs1317103645
NM_000639.3(FASLG):c.210C>T (p.Pro70=)
NM_000639.3(FASLG):c.213G>A (p.Leu71=)
NM_000639.3(FASLG):c.221G>A (p.Arg74Lys)
NM_000639.3(FASLG):c.225G>A (p.Gly75=) rs761614632
NM_000639.3(FASLG):c.228C>G (p.Asn76Lys)
NM_000639.3(FASLG):c.241C>T (p.Leu81=)
NM_000639.3(FASLG):c.256A>G (p.Met86Val) rs1659091267
NM_000639.3(FASLG):c.263del (p.Phe88fs) rs587776450
NM_000639.3(FASLG):c.279C>T (p.Ala93=)
NM_000639.3(FASLG):c.295C>T (p.Leu99=)
NM_000639.3(FASLG):c.300G>T (p.Gly100=) rs1314891100
NM_000639.3(FASLG):c.312C>T (p.Leu104=)
NM_000639.3(FASLG):c.313T>C (p.Phe105Leu) rs2101806696
NM_000639.3(FASLG):c.321A>G (p.Leu107=)
NM_000639.3(FASLG):c.343C>T (p.Arg115Ter) rs773045347
NM_000639.3(FASLG):c.344G>T (p.Arg115Leu)
NM_000639.3(FASLG):c.348+11C>T
NM_000639.3(FASLG):c.348+14C>T
NM_000639.3(FASLG):c.348+9G>A
NM_000639.3(FASLG):c.349-13T>C
NM_000639.3(FASLG):c.349-16C>T
NM_000639.3(FASLG):c.351T>G (p.Ser117=)
NM_000639.3(FASLG):c.355A>T (p.Ser119Cys) rs1659104491
NM_000639.3(FASLG):c.362T>G (p.Met121Arg) rs1303419746
NM_000639.3(FASLG):c.368C>T (p.Thr123Ile)
NM_000639.3(FASLG):c.394+13dup
NM_000639.3(FASLG):c.394+16C>A
NM_000639.3(FASLG):c.394+17A>C
NM_000639.3(FASLG):c.395-13C>G
NM_000639.3(FASLG):c.397C>T (p.His133Tyr) rs1414237389
NM_000639.3(FASLG):c.401C>G (p.Pro134Arg) rs766811734
NM_000639.3(FASLG):c.405T>C (p.Ser135=)
NM_000639.3(FASLG):c.410C>T (p.Pro137Leu)
NM_000639.3(FASLG):c.411C>A (p.Pro137=)
NM_000639.3(FASLG):c.415G>A (p.Glu139Lys)
NM_000639.3(FASLG):c.424_425delinsTT (p.Glu142Leu)
NM_000639.3(FASLG):c.42G>C (p.Trp14Cys) rs886045569
NM_000639.3(FASLG):c.44del (p.Val15fs)
NM_000639.3(FASLG):c.451+11G>A
NM_000639.3(FASLG):c.451+12G>A
NM_000639.3(FASLG):c.452-11A>T
NM_000639.3(FASLG):c.452-13G>A
NM_000639.3(FASLG):c.452G>A (p.Gly151Asp)
NM_000639.3(FASLG):c.453C>A (p.Gly151=)
NM_000639.3(FASLG):c.473T>C (p.Met158Thr)
NM_000639.3(FASLG):c.473_556del (p.Met158_Glu185del) rs80358236
NM_000639.3(FASLG):c.484T>C (p.Trp162Arg) rs2101810526
NM_000639.3(FASLG):c.498T>C (p.Tyr166=)
NM_000639.3(FASLG):c.522G>A (p.Val174=)
NM_000639.3(FASLG):c.537T>C (p.Gly179=) rs2101810574
NM_000639.3(FASLG):c.540C>T (p.Gly180=)
NM_000639.3(FASLG):c.54T>A (p.Ser18Arg) rs1659080899
NM_000639.3(FASLG):c.552T>C (p.Asn184=)
NM_000639.3(FASLG):c.576_587del (p.Ser193_Tyr196del)
NM_000639.3(FASLG):c.592C>T (p.Arg198Trp)
NM_000639.3(FASLG):c.598C>A (p.Gln200Lys) rs2101810632
NM_000639.3(FASLG):c.605G>C (p.Cys202Ser) rs2101810634
NM_000639.3(FASLG):c.615G>T (p.Leu205=) rs2101810642
NM_000639.3(FASLG):c.628A>G (p.Lys210Glu)
NM_000639.3(FASLG):c.631G>A (p.Val211Ile)
NM_000639.3(FASLG):c.637A>G (p.Met213Val)
NM_000639.3(FASLG):c.639G>A (p.Met213Ile)
NM_000639.3(FASLG):c.653A>G (p.Tyr218Cys)
NM_000639.3(FASLG):c.659A>G (p.Gln220Arg) rs1659249691
NM_000639.3(FASLG):c.666G>A (p.Leu222=) rs2101810683
NM_000639.3(FASLG):c.690G>A (p.Met230Ile) rs999784381
NM_000639.3(FASLG):c.702T>C (p.Thr234=)
NM_000639.3(FASLG):c.708G>A (p.Gly236=)
NM_000639.3(FASLG):c.720C>T (p.Ala240=)
NM_000639.3(FASLG):c.72C>A (p.Ala24=) rs182516315
NM_000639.3(FASLG):c.743T>C (p.Val248Ala) rs1571333759
NM_000639.3(FASLG):c.749A>T (p.Asn250Ile) rs376317481
NM_000639.3(FASLG):c.780C>T (p.Asn260=)
NM_000639.3(FASLG):c.796C>G (p.Leu266Val)
NM_000639.3(FASLG):c.802A>T (p.Asn268Tyr)
NM_000639.3(FASLG):c.822G>A (p.Thr274=)
NM_000639.3(FASLG):c.822G>T (p.Thr274=) rs199500307
NM_000639.3(FASLG):c.834A>T (p.Leu278Phe) rs1571333854
NM_000639.3(FASLG):c.91C>T (p.Pro31Ser)
NM_000639.3(FASLG):c.95G>C (p.Cys32Ser) rs1659082010
NM_001014286.3(SUPT20H):c.73A>T (p.Lys25Ter) rs1566328963
NM_001079.4(ZAP70):c.512A>G (p.Glu171Gly) rs199631517
NM_001079.4(ZAP70):c.939C>T (p.Ser313=)
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_001136219.3(FCGR2A):c.497C>T (p.Ser166Phe) rs1675655979
NM_001136219.3(FCGR2A):c.780+1G>A rs409763
NM_001141945.3(ACTA2):c.-24+236C>T rs886047457
NM_001141945.3(ACTA2):c.-24+399C>T rs886047456
NM_001141945.3(ACTA2):c.-24+414_-24+415del rs553556054
NM_001228.5(CASP8):c.-117C>A rs1945936282
NM_001228.5(CASP8):c.-208A>G rs1576164512
NM_001228.5(CASP8):c.-26-8138T>A rs764133648
NM_001228.5(CASP8):c.-26-8157C>A rs201548238
NM_001302746.1(FASLG):c.-187_-186GA[4] rs55853758
NM_001370466.1(NOD2):c.*183C>T rs547264433
NM_001370466.1(NOD2):c.*325G>A rs886052046
NM_001370466.1(NOD2):c.*329_*334dup rs886052047
NM_001370466.1(NOD2):c.*422C>G rs886052049
NM_001370466.1(NOD2):c.*64G>C rs1053712094
NM_001370466.1(NOD2):c.*9G>A rs104895459
NM_001370466.1(NOD2):c.-8-1G>C
NM_001370466.1(NOD2):c.-8-2158G>C
NM_001370466.1(NOD2):c.-8-2166A>G
NM_001370466.1(NOD2):c.-8-2173G>A
NM_001370466.1(NOD2):c.-8-2184G>A rs771671839
NM_001370466.1(NOD2):c.-8-2184G>T
NM_001370466.1(NOD2):c.-8-2193G>A rs886052043
NM_001370466.1(NOD2):c.-8-2202A>G rs1963694151
NM_001370466.1(NOD2):c.-8-2202_-8-2194dup rs2150776605
NM_001370466.1(NOD2):c.-8-2208G>A rs2150776587
NM_001370466.1(NOD2):c.-8-2209G>A
NM_001370466.1(NOD2):c.-8-2213A>T
NM_001370466.1(NOD2):c.-8-2214G>A
NM_001370466.1(NOD2):c.-8-2215C>T
NM_001370466.1(NOD2):c.-8-2219C>T
NM_001370466.1(NOD2):c.-8-2532G>T
NM_001370466.1(NOD2):c.-8G>C
NM_001370466.1(NOD2):c.1022T>C (p.Leu341Pro) rs1964452487
NM_001370466.1(NOD2):c.1035C>T (p.Asp345=)
NM_001370466.1(NOD2):c.1038T>C (p.Arg346=)
NM_001370466.1(NOD2):c.1050C>T (p.Thr350=) rs750655947
NM_001370466.1(NOD2):c.1057G>A (p.Gly353Ser)
NM_001370466.1(NOD2):c.1058G>A (p.Gly353Asp) rs1964456255
NM_001370466.1(NOD2):c.1065C>G (p.Asp355Glu) rs104895476
NM_001370466.1(NOD2):c.1065C>T (p.Asp355=)
NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys) rs104895477
NM_001370466.1(NOD2):c.1066G>T (p.Glu356Ter)
NM_001370466.1(NOD2):c.1067A>G (p.Glu356Gly) rs104895493
NM_001370466.1(NOD2):c.1068G>C (p.Glu356Asp)
NM_001370466.1(NOD2):c.1071C>T (p.Phe357=)
NM_001370466.1(NOD2):c.107G>A (p.Trp36Ter)
NM_001370466.1(NOD2):c.1086G>C (p.Thr362=)
NM_001370466.1(NOD2):c.1093G>A (p.Glu365Lys)
NM_001370466.1(NOD2):c.1102T>A (p.Cys368Ser)
NM_001370466.1(NOD2):c.1107C>T (p.Ser369=)
NM_001370466.1(NOD2):c.1110G>C (p.Pro370=)
NM_001370466.1(NOD2):c.1112C>A (p.Thr371Asn)
NM_001370466.1(NOD2):c.1112C>T (p.Thr371Ile) rs1964461594
NM_001370466.1(NOD2):c.1114G>A (p.Asp372Asn)
NM_001370466.1(NOD2):c.1121C>A (p.Thr374Asn)
NM_001370466.1(NOD2):c.113T>C (p.Val38Ala)
NM_001370466.1(NOD2):c.113_127dup (p.Glu42_Asp43insValLeuSerTrpGlu)
NM_001370466.1(NOD2):c.1141T>G (p.Phe381Val)
NM_001370466.1(NOD2):c.1160A>G (p.Asn387Ser) rs104895429
NM_001370466.1(NOD2):c.1174G>A (p.Ala392Thr)
NM_001370466.1(NOD2):c.1175C>T (p.Ala392Val)
NM_001370466.1(NOD2):c.1184T>G (p.Val395Gly)
NM_001370466.1(NOD2):c.1185G>A (p.Val395=) rs1344612505
NM_001370466.1(NOD2):c.1188G>A (p.Val396=) rs77966199
NM_001370466.1(NOD2):c.1190C>A (p.Thr397Asn) rs1596864349
NM_001370466.1(NOD2):c.1200G>C (p.Pro400=) rs104895430
NM_001370466.1(NOD2):c.1201G>A (p.Ala401Thr) rs1964470443
NM_001370466.1(NOD2):c.1204G>A (p.Ala402Thr)
NM_001370466.1(NOD2):c.1212G>A (p.Ser404=)
NM_001370466.1(NOD2):c.1217T>C (p.Phe406Ser) rs2150809796
NM_001370466.1(NOD2):c.1227G>T (p.Lys409Asn)
NM_001370466.1(NOD2):c.1242G>A (p.Glu414=) rs1224862712
NM_001370466.1(NOD2):c.1247A>G (p.Asn416Ser)
NM_001370466.1(NOD2):c.1253del (p.Lys418fs)
NM_001370466.1(NOD2):c.1271G>A (p.Gly424Asp) rs1249578378
NM_001370466.1(NOD2):c.1285C>T (p.Leu429=) rs104895433
NM_001370466.1(NOD2):c.1294C>T (p.Arg432Cys)
NM_001370466.1(NOD2):c.1295G>A (p.Arg432His)
NM_001370466.1(NOD2):c.1306C>G (p.Pro436Ala) rs104895482
NM_001370466.1(NOD2):c.1308C>A (p.Pro436=)
NM_001370466.1(NOD2):c.1309G>A (p.Gly437Arg)
NM_001370466.1(NOD2):c.1309G>T (p.Gly437Trp) rs104895492
NM_001370466.1(NOD2):c.1317G>A (p.Ala439=)
NM_001370466.1(NOD2):c.1321C>A (p.Arg441Ser) rs769988393
NM_001370466.1(NOD2):c.1324C>T (p.Leu442Phe) rs104895460
NM_001370466.1(NOD2):c.1331G>A (p.Arg444His)
NM_001370466.1(NOD2):c.1331G>T (p.Arg444Leu) rs764414933
NM_001370466.1(NOD2):c.1335G>A (p.Leu445=)
NM_001370466.1(NOD2):c.1338C>T (p.Leu446=)
NM_001370466.1(NOD2):c.1339C>A (p.Gln447Lys)
NM_001370466.1(NOD2):c.1344G>C (p.Glu448Asp) rs1964484718
NM_001370466.1(NOD2):c.1346C>A (p.Thr449Asn) rs1567392113
NM_001370466.1(NOD2):c.1349C>G (p.Ser450Ter)
NM_001370466.1(NOD2):c.1352C>T (p.Ala451Val) rs2150810483
NM_001370466.1(NOD2):c.1356G>A (p.Leu452=)
NM_001370466.1(NOD2):c.1360G>A (p.Gly454Ser)
NM_001370466.1(NOD2):c.1361G>A (p.Gly454Asp) rs104895494
NM_001370466.1(NOD2):c.1363T>C (p.Leu455=)
NM_001370466.1(NOD2):c.1367G>A (p.Cys456Tyr)
NM_001370466.1(NOD2):c.1368C>T (p.Cys456=) rs1964487483
NM_001370466.1(NOD2):c.1379T>A (p.Val460Asp) rs1964489081
NM_001370466.1(NOD2):c.1382T>C (p.Phe461Ser)
NM_001370466.1(NOD2):c.1388G>T (p.Trp463Leu) rs104895480
NM_001370466.1(NOD2):c.1390A>C (p.Met464Leu) rs2150810705
NM_001370466.1(NOD2):c.1397C>T (p.Ser466Phe)
NM_001370466.1(NOD2):c.1402T>G (p.Cys468Gly) rs2150810748
NM_001370466.1(NOD2):c.1403G>A (p.Cys468Tyr) rs104895478
NM_001370466.1(NOD2):c.1406A>G (p.His469Arg) rs104895472
NM_001370466.1(NOD2):c.1406A>T (p.His469Leu) rs104895472
NM_001370466.1(NOD2):c.1411G>A (p.Glu471Lys)
NM_001370466.1(NOD2):c.1418T>A (p.Leu473Ter) rs1964491198
NM_001370466.1(NOD2):c.1429G>A (p.Gly477Arg)
NM_001370466.1(NOD2):c.1429G>T (p.Gly477Trp)
NM_001370466.1(NOD2):c.1430G>A (p.Gly477Glu)
NM_001370466.1(NOD2):c.1434del (p.Ser479fs) rs754761524
NM_001370466.1(NOD2):c.1434dup (p.Ser479fs) rs754761524
NM_001370466.1(NOD2):c.1441A>G (p.Lys481Glu)
NM_001370466.1(NOD2):c.1445C>A (p.Thr482Asn) rs773580517
NM_001370466.1(NOD2):c.1445C>G (p.Thr482Ser)
NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr) rs104895473
NM_001370466.1(NOD2):c.1462C>T (p.Leu488=) rs1318205250
NM_001370466.1(NOD2):c.1474C>T (p.Gln492Ter) rs1964496675
NM_001370466.1(NOD2):c.1497C>A (p.Thr499=)
NM_001370466.1(NOD2):c.1497C>G (p.Thr499=) rs779950802
NM_001370466.1(NOD2):c.1497C>T (p.Thr499=)
NM_001370466.1(NOD2):c.1499C>A (p.Pro500His)
NM_001370466.1(NOD2):c.1501C>G (p.Pro501Ala)
NM_001370466.1(NOD2):c.1502C>A (p.Pro501Gln) rs773811702
NM_001370466.1(NOD2):c.1502dup (p.Asp502fs) rs754073471
NM_001370466.1(NOD2):c.1503A>G (p.Pro501=) rs1964499560
NM_001370466.1(NOD2):c.1510G>T (p.Ala504Ser) rs1328584012
NM_001370466.1(NOD2):c.1516C>T (p.Gln506Ter)
NM_001370466.1(NOD2):c.1520G>A (p.Gly507Asp)
NM_001370466.1(NOD2):c.1521T>C (p.Gly507=)
NM_001370466.1(NOD2):c.1529C>A (p.Pro510His) rs1567392735
NM_001370466.1(NOD2):c.1529C>T (p.Pro510Leu) rs1567392735
NM_001370466.1(NOD2):c.1541G>A (p.Arg514Gln) rs753857915
NM_001370466.1(NOD2):c.1541G>C (p.Arg514Pro)
NM_001370466.1(NOD2):c.1547G>A (p.Arg516His) rs772534917
NM_001370466.1(NOD2):c.154C>T (p.Gln52Ter)
NM_001370466.1(NOD2):c.1553C>T (p.Pro518Leu) rs777949388
NM_001370466.1(NOD2):c.1559T>A (p.Leu520His)
NM_001370466.1(NOD2):c.1559T>C (p.Leu520Pro) rs762186831
NM_001370466.1(NOD2):c.1560C>T (p.Leu520=)
NM_001370466.1(NOD2):c.1564C>A (p.His522Asn) rs1964506383
NM_001370466.1(NOD2):c.1567C>G (p.Leu523Val) rs104895471
NM_001370466.1(NOD2):c.1572C>T (p.Gly524=)
NM_001370466.1(NOD2):c.1579del (p.Ala527fs) rs2150811580
NM_001370466.1(NOD2):c.157C>A (p.Pro53Thr)
NM_001370466.1(NOD2):c.1581T>A (p.Ala527=)
NM_001370466.1(NOD2):c.1589G>T (p.Gly530Val)
NM_001370466.1(NOD2):c.1591_1596del (p.Leu531_Gly532del) rs104895436
NM_001370466.1(NOD2):c.159T>C (p.Pro53=)
NM_001370466.1(NOD2):c.1616C>T (p.Ser539Leu) rs908511039
NM_001370466.1(NOD2):c.162C>T (p.Leu54=) rs1963835517
NM_001370466.1(NOD2):c.1639C>G (p.Gln547Glu) rs1264862631
NM_001370466.1(NOD2):c.1648C>T (p.Pro550Ser)
NM_001370466.1(NOD2):c.1650T>C (p.Pro550=)
NM_001370466.1(NOD2):c.165C>T (p.Ser55=)
NM_001370466.1(NOD2):c.1663C>G (p.Leu555Val)
NM_001370466.1(NOD2):c.1674G>A (p.Leu558=) rs2150811924
NM_001370466.1(NOD2):c.1675G>T (p.Val559Leu)
NM_001370466.1(NOD2):c.168C>T (p.His56=) rs1963835959
NM_001370466.1(NOD2):c.1708G>A (p.Ala570Thr)
NM_001370466.1(NOD2):c.1717G>A (p.Glu573Lys) rs1964520477
NM_001370466.1(NOD2):c.1723C>T (p.Leu575Phe) rs1964520847
NM_001370466.1(NOD2):c.1728C>T (p.His576=)
NM_001370466.1(NOD2):c.1729A>G (p.Ile577Val)
NM_001370466.1(NOD2):c.1732A>C (p.Thr578Pro) rs104895474
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) rs104895438
NM_001370466.1(NOD2):c.1753G>T (p.Ala585Ser) rs104895438
NM_001370466.1(NOD2):c.175A>G (p.Arg59Gly)
NM_001370466.1(NOD2):c.1766C>T (p.Ala589Val)
NM_001370466.1(NOD2):c.1767A>T (p.Ala589=) rs1463239348
NM_001370466.1(NOD2):c.176G>A (p.Arg59Lys)
NM_001370466.1(NOD2):c.1775C>T (p.Ala592Val) rs867131858
NM_001370466.1(NOD2):c.1822C>T (p.Pro608Ser)
NM_001370466.1(NOD2):c.1827C>T (p.Gly609=)
NM_001370466.1(NOD2):c.1828_1846del (p.Asn610fs) rs745991254
NM_001370466.1(NOD2):c.183T>C (p.Leu61=)
NM_001370466.1(NOD2):c.1843A>G (p.Arg615Gly) rs1964529815
NM_001370466.1(NOD2):c.1846C>T (p.Leu616Phe)
NM_001370466.1(NOD2):c.1851_1852delinsAA (p.Pro618Thr)
NM_001370466.1(NOD2):c.1852C>A (p.Pro618Thr) rs1228502653
NM_001370466.1(NOD2):c.1856C>T (p.Thr619Met)
NM_001370466.1(NOD2):c.1857G>A (p.Thr619=) rs762058298
NM_001370466.1(NOD2):c.185T>C (p.Leu62Pro)
NM_001370466.1(NOD2):c.1863C>G (p.Cys621Trp)
NM_001370466.1(NOD2):c.1864A>C (p.Ile622Leu) rs1484221771
NM_001370466.1(NOD2):c.1869G>A (p.Gln623=)
NM_001370466.1(NOD2):c.186G>A (p.Leu62=) rs1963838182
NM_001370466.1(NOD2):c.1874C>T (p.Ser625Leu)
NM_001370466.1(NOD2):c.1886A>T (p.Asp629Val) rs2150812781
NM_001370466.1(NOD2):c.1891A>G (p.Ser631Gly)
NM_001370466.1(NOD2):c.1893C>T (p.Ser631=)
NM_001370466.1(NOD2):c.1915G>A (p.Ala639Thr)
NM_001370466.1(NOD2):c.1923G>T (p.Pro641=) rs199475914
NM_001370466.1(NOD2):c.1929C>A (p.Asn643Lys) rs104895475
NM_001370466.1(NOD2):c.1929C>G (p.Asn643Lys) rs104895475
NM_001370466.1(NOD2):c.1938C>G (p.Ile646Met)
NM_001370466.1(NOD2):c.1939A>G (p.Thr647Ala)
NM_001370466.1(NOD2):c.193G>T (p.Val65Phe) rs187264529
NM_001370466.1(NOD2):c.1949T>C (p.Phe650Ser) rs2150813115
NM_001370466.1(NOD2):c.1951C>T (p.Leu651=) rs2150813161
NM_001370466.1(NOD2):c.1951del (p.Leu651fs) rs1201050964
NM_001370466.1(NOD2):c.1976A>C (p.His659Pro)
NM_001370466.1(NOD2):c.2019G>T (p.Leu673=)
NM_001370466.1(NOD2):c.2022C>T (p.Leu674=) rs1459264285
NM_001370466.1(NOD2):c.2026C>G (p.Arg676Gly) rs5743277
NM_001370466.1(NOD2):c.2027G>T (p.Arg676Leu)
NM_001370466.1(NOD2):c.202A>G (p.Lys68Glu) rs2150781997
NM_001370466.1(NOD2):c.2032G>T (p.Ala678Ser)
NM_001370466.1(NOD2):c.2041C>T (p.Arg681Cys)
NM_001370466.1(NOD2):c.2042G>C (p.Arg681Pro)
NM_001370466.1(NOD2):c.2042G>T (p.Arg681Leu) rs35285618
NM_001370466.1(NOD2):c.2066G>T (p.Arg689Leu)
NM_001370466.1(NOD2):c.2067C>T (p.Arg689=)
NM_001370466.1(NOD2):c.2079C>A (p.His693Gln)
NM_001370466.1(NOD2):c.208A>G (p.Thr70Ala)
NM_001370466.1(NOD2):c.2096C>T (p.Ala699Val)
NM_001370466.1(NOD2):c.2098C>T (p.Pro700Ser) rs1338599093
NM_001370466.1(NOD2):c.2099C>A (p.Pro700Gln)
NM_001370466.1(NOD2):c.2100G>C (p.Pro700=)
NM_001370466.1(NOD2):c.2101G>A (p.Gly701Ser) rs1964553940
NM_001370466.1(NOD2):c.2106G>A (p.Glu702=)
NM_001370466.1(NOD2):c.2106G>T (p.Glu702Asp)
NM_001370466.1(NOD2):c.2112G>A (p.Lys704=) rs2150813842
NM_001370466.1(NOD2):c.2114G>A (p.Ser705Asn)
NM_001370466.1(NOD2):c.2115C>A (p.Ser705Arg)
NM_001370466.1(NOD2):c.2115C>T (p.Ser705=)
NM_001370466.1(NOD2):c.2119C>T (p.His707Tyr)
NM_001370466.1(NOD2):c.2123C>T (p.Ala708Val)
NM_001370466.1(NOD2):c.2137A>G (p.Ile713Val)
NM_001370466.1(NOD2):c.2139C>T (p.Ile713=) rs104895441
NM_001370466.1(NOD2):c.2145C>T (p.Leu715=)
NM_001370466.1(NOD2):c.2156T>C (p.Leu719Pro)
NM_001370466.1(NOD2):c.2158T>C (p.Tyr720His) rs2150814130
NM_001370466.1(NOD2):c.2163G>A (p.Glu721=)
NM_001370466.1(NOD2):c.2163G>C (p.Glu721Asp)
NM_001370466.1(NOD2):c.216C>T (p.Ala72=) rs1398956455
NM_001370466.1(NOD2):c.2171A>G (p.Glu724Gly) rs1964561689
NM_001370466.1(NOD2):c.2178G>C (p.Arg726=) rs2150814223
NM_001370466.1(NOD2):c.2186G>T (p.Arg729Leu) rs375713299
NM_001370466.1(NOD2):c.2217C>T (p.His739=) rs767638398
NM_001370466.1(NOD2):c.2223G>A (p.Lys741=) rs1596871165
NM_001370466.1(NOD2):c.2226G>C (p.Leu742Phe) rs1266638330
NM_001370466.1(NOD2):c.222G>A (p.Gln74=)
NM_001370466.1(NOD2):c.2230T>A (p.Phe744Ile)
NM_001370466.1(NOD2):c.2237G>A (p.Ser746Asn)
NM_001370466.1(NOD2):c.2243G>A (p.Gly748Asp)
NM_001370466.1(NOD2):c.2245C>T (p.Pro749Ser) rs1264795843
NM_001370466.1(NOD2):c.2249C>A (p.Thr750Asn) rs756184386
NM_001370466.1(NOD2):c.2253G>C (p.Glu751Asp)
NM_001370466.1(NOD2):c.2261C>T (p.Ala754Val)
NM_001370466.1(NOD2):c.2267C>G (p.Ala756Gly)
NM_001370466.1(NOD2):c.2268C>T (p.Ala756=) rs1596871480
NM_001370466.1(NOD2):c.2276T>G (p.Leu759Arg) rs2150814646
NM_001370466.1(NOD2):c.2286C>G (p.Leu762=)
NM_001370466.1(NOD2):c.2294C>G (p.Pro765Arg) rs1964571054
NM_001370466.1(NOD2):c.2297T>G (p.Val766Gly) rs1200152449
NM_001370466.1(NOD2):c.2314T>C (p.Tyr772His)
NM_001370466.1(NOD2):c.2323G>A (p.Val775Met) rs1964574298
NM_001370466.1(NOD2):c.2334T>C (p.Ile778=) rs1380472189
NM_001370466.1(NOD2):c.2336G>T (p.Gly779Val) rs2150814954
NM_001370466.1(NOD2):c.2337C>T (p.Gly779=) rs199475916
NM_001370466.1(NOD2):c.234G>C (p.Ala78=) rs104895419
NM_001370466.1(NOD2):c.2363G>T (p.Gly788Val) rs1964577394
NM_001370466.1(NOD2):c.2369G>A (p.Cys790Tyr)
NM_001370466.1(NOD2):c.2381+12T>A
NM_001370466.1(NOD2):c.2382-14T>G rs2150823709
NM_001370466.1(NOD2):c.2388C>A (p.Arg796=) rs757770726
NM_001370466.1(NOD2):c.238_239delinsAG (p.Ala80Ser)
NM_001370466.1(NOD2):c.2394C>G (p.Asn798Lys) rs104895485
NM_001370466.1(NOD2):c.2413A>G (p.Ile805Val) rs765335094
NM_001370466.1(NOD2):c.2414T>C (p.Ile805Thr) rs2150823869
NM_001370466.1(NOD2):c.2418C>T (p.Cys806=)
NM_001370466.1(NOD2):c.2419A>C (p.Lys807Gln) rs1964807205
NM_001370466.1(NOD2):c.241C>T (p.Gln81Ter)
NM_001370466.1(NOD2):c.2421G>A (p.Lys807=)
NM_001370466.1(NOD2):c.243A>G (p.Gln81=)
NM_001370466.1(NOD2):c.2458_2460del (p.Lys820del) rs2150823997
NM_001370466.1(NOD2):c.2460G>A (p.Lys820=)
NM_001370466.1(NOD2):c.2465+18G>A
NM_001370466.1(NOD2):c.2465+20G>A
NM_001370466.1(NOD2):c.2465+20G>T rs540029486
NM_001370466.1(NOD2):c.2466-11G>A
NM_001370466.1(NOD2):c.2466-12G>A rs2150824449
NM_001370466.1(NOD2):c.2466-6G>A
NM_001370466.1(NOD2):c.2466-8C>A
NM_001370466.1(NOD2):c.2466-8C>G rs1178978578
NM_001370466.1(NOD2):c.2477A>G (p.Asn826Ser) rs104895446
NM_001370466.1(NOD2):c.2485A>C (p.Thr829Pro)
NM_001370466.1(NOD2):c.2491G>A (p.Gly831Ser)
NM_001370466.1(NOD2):c.2495G>A (p.Cys832Tyr)
NM_001370466.1(NOD2):c.2495dup (p.Cys832fs) rs1555500626
NM_001370466.1(NOD2):c.2501A>C (p.His834Pro) rs763542516
NM_001370466.1(NOD2):c.2509G>C (p.Ala837Pro)
NM_001370466.1(NOD2):c.2515C>G (p.Leu839Val) rs1000799073
NM_001370466.1(NOD2):c.2518C>T (p.Leu840Phe)
NM_001370466.1(NOD2):c.2521G>A (p.Ala841Thr)
NM_001370466.1(NOD2):c.2525G>T (p.Cys842Phe) rs749157324
NM_001370466.1(NOD2):c.2538C>T (p.Phe846=) rs104895448
NM_001370466.1(NOD2):c.2548A>G (p.Arg850Gly)
NM_001370466.1(NOD2):c.2549+35T>A rs104895449
NM_001370466.1(NOD2):c.2549+8C>T
NM_001370466.1(NOD2):c.2550-16_2550-15del rs762600414
NM_001370466.1(NOD2):c.2550-5T>C rs104895450
NM_001370466.1(NOD2):c.2551C>T (p.Leu851=) rs886052044
NM_001370466.1(NOD2):c.2557A>T (p.Asn853Tyr)
NM_001370466.1(NOD2):c.255C>A (p.Ala85=) rs770046355
NM_001370466.1(NOD2):c.255C>T (p.Ala85=) rs770046355
NM_001370466.1(NOD2):c.2567T>C (p.Ile856Thr)
NM_001370466.1(NOD2):c.2577G>A (p.Ala859=) rs1417676866
NM_001370466.1(NOD2):c.2585A>C (p.Gln862Pro)
NM_001370466.1(NOD2):c.2586A>C (p.Gln862His) rs764244331
NM_001370466.1(NOD2):c.2590C>G (p.Leu864Val)
NM_001370466.1(NOD2):c.2595C>G (p.Ala865=) rs375012324
NM_001370466.1(NOD2):c.2595C>T (p.Ala865=) rs375012324
NM_001370466.1(NOD2):c.2606G>A (p.Arg869Gln)
NM_001370466.1(NOD2):c.2610C>T (p.Gly870=)
NM_001370466.1(NOD2):c.2624A>G (p.Gln875Arg)
NM_001370466.1(NOD2):c.2625G>T (p.Gln875His) rs200428513
NM_001370466.1(NOD2):c.262C>T (p.Gln88Ter) rs2150782258
NM_001370466.1(NOD2):c.2633+12T>C
NM_001370466.1(NOD2):c.2633+17_2633+20del
NM_001370466.1(NOD2):c.2633+20G>A
NM_001370466.1(NOD2):c.2633+3A>C rs767535551
NM_001370466.1(NOD2):c.2633+7T>C
NM_001370466.1(NOD2):c.2634-15T>C
NM_001370466.1(NOD2):c.2634-81G>A rs104895465
NM_001370466.1(NOD2):c.2638T>C (p.Trp880Arg) rs104895490
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) rs2066845
NM_001370466.1(NOD2):c.2647A>G (p.Arg883Gly)
NM_001370466.1(NOD2):c.2648G>C (p.Arg883Thr) rs1354091032
NM_001370466.1(NOD2):c.2649A>G (p.Arg883=)
NM_001370466.1(NOD2):c.2652G>A (p.Val884=) rs1359941511
NM_001370466.1(NOD2):c.2665G>A (p.Ala889Thr)
NM_001370466.1(NOD2):c.2671G>T (p.Ala891Ser) rs769395722
NM_001370466.1(NOD2):c.2676G>A (p.Leu892=)
NM_001370466.1(NOD2):c.2677G>T (p.Ala893Ser)
NM_001370466.1(NOD2):c.2689G>A (p.Gly897Ser) rs2150833269
NM_001370466.1(NOD2):c.2697C>G (p.His899Gln) rs1242042498
NM_001370466.1(NOD2):c.2709G>A (p.Arg903=) rs139886679
NM_001370466.1(NOD2):c.2717+18T>C
NM_001370466.1(NOD2):c.2718-11A>T
NM_001370466.1(NOD2):c.2718-13_2718-9del
NM_001370466.1(NOD2):c.2718-14A>G
NM_001370466.1(NOD2):c.2718-1G>T rs576834532
NM_001370466.1(NOD2):c.2726G>A (p.Gly909Glu) rs542558237
NM_001370466.1(NOD2):c.2737G>A (p.Gly913Ser)
NM_001370466.1(NOD2):c.2752C>T (p.Gln918Ter) rs1394622344
NM_001370466.1(NOD2):c.2767A>G (p.Met923Val) rs527892258
NM_001370466.1(NOD2):c.2769G>T (p.Met923Ile)
NM_001370466.1(NOD2):c.276G>T (p.Leu92=) rs672601267
NM_001370466.1(NOD2):c.2770C>T (p.Leu924=)
NM_001370466.1(NOD2):c.2801+17C>A rs1193867802
NM_001370466.1(NOD2):c.2801+19C>T
NM_001370466.1(NOD2):c.2801+9G>T
NM_001370466.1(NOD2):c.2802-16C>T
NM_001370466.1(NOD2):c.2802-8C>G
NM_001370466.1(NOD2):c.2802-9T>A rs750873269
NM_001370466.1(NOD2):c.2807A>G (p.Glu936Gly) rs1555501675
NM_001370466.1(NOD2):c.282C>A (p.Gly94=)
NM_001370466.1(NOD2):c.2831G>A (p.Gly944Asp) rs1187029221
NM_001370466.1(NOD2):c.2831G>C (p.Gly944Ala)
NM_001370466.1(NOD2):c.2833G>A (p.Val945Ile) rs104895455
NM_001370466.1(NOD2):c.2837G>A (p.Cys946Tyr)
NM_001370466.1(NOD2):c.2839T>C (p.Ser947Pro) rs1965233783
NM_001370466.1(NOD2):c.2840C>G (p.Ser947Cys)
NM_001370466.1(NOD2):c.2842C>G (p.Leu948Val) rs1337759230
NM_001370466.1(NOD2):c.2856G>A (p.Leu952=)
NM_001370466.1(NOD2):c.2859G>A (p.Lys953=)
NM_001370466.1(NOD2):c.2878A>T (p.Ile960Phe) rs2150836993
NM_001370466.1(NOD2):c.2881C>T (p.Leu961=) rs1596908135
NM_001370466.1(NOD2):c.2885+10C>G
NM_001370466.1(NOD2):c.2885+12A>G rs751255487
NM_001370466.1(NOD2):c.2885+19G>A
NM_001370466.1(NOD2):c.2886-12C>T
NM_001370466.1(NOD2):c.2886-17T>C rs757094587
NM_001370466.1(NOD2):c.2886G>A (p.Lys962=) rs1965389837
NM_001370466.1(NOD2):c.2906C>T (p.Thr969Ile) rs1567407613
NM_001370466.1(NOD2):c.2915G>C (p.Gly972Ala) rs1238071864
NM_001370466.1(NOD2):c.2917del (p.Ala973fs)
NM_001370466.1(NOD2):c.292C>T (p.Pro98Ser) rs1963848568
NM_001370466.1(NOD2):c.2944A>G (p.Arg982Gly) rs771490210
NM_001370466.1(NOD2):c.2948A>G (p.Asn983Ser)
NM_001370466.1(NOD2):c.294C>G (p.Pro98=)
NM_001370466.1(NOD2):c.2957T>C (p.Ile986Thr) rs2150843373
NM_001370466.1(NOD2):c.2959C>T (p.Leu987=)
NM_001370466.1(NOD2):c.295C>A (p.His99Asn)
NM_001370466.1(NOD2):c.2969+13G>A
NM_001370466.1(NOD2):c.2969+14G>A rs2150843410
NM_001370466.1(NOD2):c.2969+15C>A
NM_001370466.1(NOD2):c.2974C>G (p.Arg992Gly) rs104895491
NM_001370466.1(NOD2):c.2975G>A (p.Arg992Gln) rs5743295
NM_001370466.1(NOD2):c.2975G>T (p.Arg992Leu) rs5743295
NM_001370466.1(NOD2):c.2985T>C (p.Thr995=)
NM_001370466.1(NOD2):c.29A>G (p.Gln10Arg)
NM_001370466.1(NOD2):c.3001G>A (p.Val1001Ile) rs1340958111
NM_001370466.1(NOD2):c.3002T>C (p.Val1001Ala)
NM_001370466.1(NOD2):c.300G>T (p.Ser100=)
NM_001370466.1(NOD2):c.3022G>A (p.Asp1008Asn) rs2150846563
NM_001370466.1(NOD2):c.3036G>T (p.Leu1012Phe)
NM_001370466.1(NOD2):c.3037C>A (p.Leu1013Ile)
NM_001370466.1(NOD2):c.309A>G (p.Pro103=) rs2150782456
NM_001370466.1(NOD2):c.31A>G (p.Arg11Gly) rs903928432
NM_001370466.1(NOD2):c.325_326del (p.His110fs) rs1567381106
NM_001370466.1(NOD2):c.357C>T (p.His119=)
NM_001370466.1(NOD2):c.35G>A (p.Ser12Asn) rs1567380395
NM_001370466.1(NOD2):c.373A>G (p.Met125Val) rs2150782623
NM_001370466.1(NOD2):c.375G>T (p.Met125Ile)
NM_001370466.1(NOD2):c.376_377insA (p.Leu126fs)
NM_001370466.1(NOD2):c.383T>A (p.Leu128Gln)
NM_001370466.1(NOD2):c.383T>G (p.Leu128Arg) rs148753593
NM_001370466.1(NOD2):c.397G>A (p.Gly133Ser)
NM_001370466.1(NOD2):c.399T>A (p.Gly133=)
NM_001370466.1(NOD2):c.39G>A (p.Gln13=)
NM_001370466.1(NOD2):c.40C>G (p.Leu14Val) rs761191478
NM_001370466.1(NOD2):c.418T>G (p.Cys140Gly)
NM_001370466.1(NOD2):c.425A>G (p.Glu142Gly)
NM_001370466.1(NOD2):c.43G>C (p.Val15Leu) rs1963826129
NM_001370466.1(NOD2):c.444C>T (p.Phe148=)
NM_001370466.1(NOD2):c.448C>G (p.Pro150Ala) rs1356803976
NM_001370466.1(NOD2):c.452_453delinsTG (p.Ser151Leu)
NM_001370466.1(NOD2):c.458G>A (p.Arg153Lys) rs1259750235
NM_001370466.1(NOD2):c.459+17G>A rs761704372
NM_001370466.1(NOD2):c.459+17G>C
NM_001370466.1(NOD2):c.459+1G>A rs1425704084
NM_001370466.1(NOD2):c.459+3G>T rs1384904015
NM_001370466.1(NOD2):c.476A>G (p.Asp159Gly)
NM_001370466.1(NOD2):c.477T>C (p.Asp159=) rs1964270177
NM_001370466.1(NOD2):c.497A>G (p.Asn166Ser) rs1964272038
NM_001370466.1(NOD2):c.509C>T (p.Ala170Val)
NM_001370466.1(NOD2):c.525T>C (p.His175=)
NM_001370466.1(NOD2):c.529C>T (p.Gln177Ter)
NM_001370466.1(NOD2):c.545C>A (p.Pro182Gln)
NM_001370466.1(NOD2):c.54G>A (p.Leu18=)
NM_001370466.1(NOD2):c.550G>T (p.Ala184Ser) rs771887760
NM_001370466.1(NOD2):c.553C>T (p.Leu185=) rs760629717
NM_001370466.1(NOD2):c.561G>A (p.Leu187=)
NM_001370466.1(NOD2):c.565+18G>A
NM_001370466.1(NOD2):c.565+7G>A
NM_001370466.1(NOD2):c.572C>T (p.Thr191Ile) rs1964416023
NM_001370466.1(NOD2):c.573A>T (p.Thr191=) rs778455499
NM_001370466.1(NOD2):c.578A>G (p.Lys193Arg)
NM_001370466.1(NOD2):c.62G>C (p.Gly21Ala) rs758548184
NM_001370466.1(NOD2):c.631A>T (p.Ser211Cys) rs1001861018
NM_001370466.1(NOD2):c.664G>A (p.Glu222Lys)
NM_001370466.1(NOD2):c.667G>A (p.Asp223Asn)
NM_001370466.1(NOD2):c.670A>G (p.Ile224Val)
NM_001370466.1(NOD2):c.676A>G (p.Thr226Ala)
NM_001370466.1(NOD2):c.678A>G (p.Thr226=)
NM_001370466.1(NOD2):c.695T>G (p.Val232Gly)
NM_001370466.1(NOD2):c.699G>C (p.Trp233Cys)
NM_001370466.1(NOD2):c.706G>A (p.Val236Met) rs756042160
NM_001370466.1(NOD2):c.70G>T (p.Glu24Ter)
NM_001370466.1(NOD2):c.712A>T (p.Met238Leu) rs1964425967
NM_001370466.1(NOD2):c.715del (p.Ala239fs) rs772914954
NM_001370466.1(NOD2):c.721C>G (p.Pro241Ala)
NM_001370466.1(NOD2):c.725C>T (p.Pro242Leu)
NM_001370466.1(NOD2):c.726G>C (p.Pro242=) rs369766454
NM_001370466.1(NOD2):c.732G>A (p.Lys244=)
NM_001370466.1(NOD2):c.745C>G (p.Leu249Val)
NM_001370466.1(NOD2):c.747G>A (p.Leu249=) rs763504952
NM_001370466.1(NOD2):c.758A>G (p.Glu253Gly)
NM_001370466.1(NOD2):c.765C>T (p.Phe255=)
NM_001370466.1(NOD2):c.77T>C (p.Phe26Ser)
NM_001370466.1(NOD2):c.781del (p.Leu261fs) rs1964431434
NM_001370466.1(NOD2):c.782T>C (p.Leu261Pro)
NM_001370466.1(NOD2):c.794C>A (p.Ala265Glu) rs149338478
NM_001370466.1(NOD2):c.795G>A (p.Ala265=)
NM_001370466.1(NOD2):c.79G>A (p.Glu27Lys)
NM_001370466.1(NOD2):c.802G>A (p.Val268Met)
NM_001370466.1(NOD2):c.807G>C (p.Leu269=)
NM_001370466.1(NOD2):c.807G>T (p.Leu269=) rs375002962
NM_001370466.1(NOD2):c.809dup (p.Val271fs)
NM_001370466.1(NOD2):c.817G>T (p.Glu273Ter)
NM_001370466.1(NOD2):c.822G>A (p.Ala274=)
NM_001370466.1(NOD2):c.824del (p.Gly275fs) rs2150808087
NM_001370466.1(NOD2):c.834G>A (p.Lys278=)
NM_001370466.1(NOD2):c.856C>T (p.His286Tyr) rs1462834850
NM_001370466.1(NOD2):c.868dup (p.Ala290fs) rs2150808264
NM_001370466.1(NOD2):c.873A>C (p.Ala291=) rs199951979
NM_001370466.1(NOD2):c.878A>G (p.Gln293Arg)
NM_001370466.1(NOD2):c.882C>T (p.Asp294=)
NM_001370466.1(NOD2):c.891A>G (p.Glu297=)
NM_001370466.1(NOD2):c.899_900del (p.Phe300fs)
NM_001370466.1(NOD2):c.8C>G (p.Ser3Trp) rs768775316
NM_001370466.1(NOD2):c.8C>T (p.Ser3Leu) rs768775316
NM_001370466.1(NOD2):c.903C>T (p.Val301=)
NM_001370466.1(NOD2):c.909A>G (p.Pro303=)
NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) rs104895462
NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln) rs104895461
NM_001370466.1(NOD2):c.920G>C (p.Arg307Pro)
NM_001370466.1(NOD2):c.938C>G (p.Ala313Gly) rs774016655
NM_001370466.1(NOD2):c.948C>G (p.Leu316=)
NM_001370466.1(NOD2):c.953T>C (p.Val318Ala)
NM_001370466.1(NOD2):c.961C>G (p.Leu321Val) rs104895428
NM_001370466.1(NOD2):c.963A>G (p.Leu321=) rs2150808670
NM_001370466.1(NOD2):c.973C>T (p.His325Tyr)
NM_001370466.1(NOD2):c.979T>C (p.Cys327Arg)
NM_001370466.1(NOD2):c.984G>A (p.Trp328Ter) rs104895488
NM_001370466.1(NOD2):c.989A>G (p.Asp330Gly) rs104895469
NM_001370466.1(NOD2):c.992T>G (p.Val331Gly) rs2150808820
NM_001370466.1(NOD2):c.995G>A (p.Gly332Asp)
NM_001370466.1(NOD2):c.9G>A (p.Ser3=) rs774491311
NM_001370466.1(NOD2):c.9G>T (p.Ser3=) rs774491311
NM_001372051.1(CASP8):c.*223C>T rs1949586192
NM_001372051.1(CASP8):c.*266C>G rs749953038
NM_001372051.1(CASP8):c.*272A>G rs1439186063
NM_001372051.1(CASP8):c.*346C>T rs1949592559
NM_001372051.1(CASP8):c.*578C>A rs886055434
NM_001372051.1(CASP8):c.*927AT[6] rs397897264
NM_001372051.1(CASP8):c.1012T>C (p.Ser338Pro) rs771197994
NM_001372051.1(CASP8):c.102G>A (p.Lys34=) rs760545881
NM_001372051.1(CASP8):c.1041C>A (p.Ser347=)
NM_001372051.1(CASP8):c.1042C>G (p.Leu348Val)
NM_001372051.1(CASP8):c.1057A>G (p.Lys353Glu)
NM_001372051.1(CASP8):c.1071T>A (p.Ile357=)
NM_001372051.1(CASP8):c.1103G>C (p.Gly368Ala) rs758525204
NM_001372051.1(CASP8):c.1104T>C (p.Gly368=) rs1949494032
NM_001372051.1(CASP8):c.1109C>T (p.Pro370Leu) rs2125485864
NM_001372051.1(CASP8):c.1118C>T (p.Thr373Ile) rs2125486142
NM_001372051.1(CASP8):c.112A>G (p.Ile38Val)
NM_001372051.1(CASP8):c.1161A>C (p.Ser387=) rs887917071
NM_001372051.1(CASP8):c.1170G>A (p.Thr390=) rs539029508
NM_001372051.1(CASP8):c.1175A>G (p.Tyr392Cys)
NM_001372051.1(CASP8):c.1197T>C (p.Phe399=)
NM_001372051.1(CASP8):c.1198C>A (p.Leu400Met) rs2125488841
NM_001372051.1(CASP8):c.1200G>A (p.Leu400=) rs1949499954
NM_001372051.1(CASP8):c.1200_1201delinsTT (p.Leu400_Leu401=)
NM_001372051.1(CASP8):c.1211C>G (p.Ala404Gly) rs2125489288
NM_001372051.1(CASP8):c.1264A>C (p.Ile422Leu)
NM_001372051.1(CASP8):c.1292A>T (p.Glu431Val) rs2125491805
NM_001372051.1(CASP8):c.1294C>T (p.Arg432Ter)
NM_001372051.1(CASP8):c.1303C>T (p.Arg435Ter) rs1368296717
NM_001372051.1(CASP8):c.1304+2T>C rs768000891
NM_001372051.1(CASP8):c.1304G>A (p.Arg435Gln)
NM_001372051.1(CASP8):c.1305-7A>G
NM_001372051.1(CASP8):c.1322C>T (p.Thr441Ile)
NM_001372051.1(CASP8):c.1349_1352del (p.Val450fs)
NM_001372051.1(CASP8):c.1378G>T (p.Gly460Trp)
NM_001372051.1(CASP8):c.1380G>C (p.Gly460=) rs2125511554
NM_001372051.1(CASP8):c.1383A>G (p.Lys461=) rs2125511633
NM_001372051.1(CASP8):c.1415A>G (p.Lys472Arg)
NM_001372051.1(CASP8):c.1430C>T (p.Pro477Leu) rs1294147397
NM_001372051.1(CASP8):c.155G>A (p.Arg52Lys)
NM_001372051.1(CASP8):c.159G>C (p.Met53Ile) rs200261147
NM_001372051.1(CASP8):c.174T>C (p.Asn58=)
NM_001372051.1(CASP8):c.198C>T (p.Leu66=)
NM_001372051.1(CASP8):c.202C>T (p.Arg68Ter) rs777784105
NM_001372051.1(CASP8):c.23A>G (p.Tyr8Cys) rs895052255
NM_001372051.1(CASP8):c.244A>G (p.Arg82Gly)
NM_001372051.1(CASP8):c.25G>A (p.Asp9Asn)
NM_001372051.1(CASP8):c.262A>G (p.Arg88Gly)
NM_001372051.1(CASP8):c.26A>G (p.Asp9Gly) rs1270676492
NM_001372051.1(CASP8):c.293T>G (p.Ile98Ser)
NM_001372051.1(CASP8):c.305+14_305+19del
NM_001372051.1(CASP8):c.305+16del
NM_001372051.1(CASP8):c.305+18T>C
NM_001372051.1(CASP8):c.306-1892T>A
NM_001372051.1(CASP8):c.306-1926A>G rs1252394250
NM_001372051.1(CASP8):c.306-1930dup
NM_001372051.1(CASP8):c.306-1949_306-1947delinsC rs765672355
NM_001372051.1(CASP8):c.306-1954C>G rs988514241
NM_001372051.1(CASP8):c.306-1954_306-1953del
NM_001372051.1(CASP8):c.306-1971A>G rs1559354162
NM_001372051.1(CASP8):c.306-1974C>A
NM_001372051.1(CASP8):c.306-1976del
NM_001372051.1(CASP8):c.306-1978G>T
NM_001372051.1(CASP8):c.306-1981del rs776712453
NM_001372051.1(CASP8):c.306-1990A>G
NM_001372051.1(CASP8):c.306-1992G>A
NM_001372051.1(CASP8):c.306-2000C>T
NM_001372051.1(CASP8):c.306-2006G>A
NM_001372051.1(CASP8):c.306-2012T>C rs2125202817
NM_001372051.1(CASP8):c.306-2015C>G rs2125202731
NM_001372051.1(CASP8):c.306-2018G>A
NM_001372051.1(CASP8):c.306-2020T>C rs1175184402
NM_001372051.1(CASP8):c.306-4A>C
NM_001372051.1(CASP8):c.306G>A (p.Arg102=)
NM_001372051.1(CASP8):c.315C>T (p.Leu105=)
NM_001372051.1(CASP8):c.323T>C (p.Ile108Thr)
NM_001372051.1(CASP8):c.329AAG[1] (p.Glu111del) rs763516126
NM_001372051.1(CASP8):c.330A>G (p.Glu110=)
NM_001372051.1(CASP8):c.33G>A (p.Gly11=)
NM_001372051.1(CASP8):c.342A>T (p.Arg114Ser)
NM_001372051.1(CASP8):c.348A>G (p.Glu116=) rs1948247221
NM_001372051.1(CASP8):c.367C>A (p.Leu123Ile)
NM_001372051.1(CASP8):c.397C>G (p.Leu133Val) rs1576325415
NM_001372051.1(CASP8):c.401A>T (p.Asp134Val) rs2125234946
NM_001372051.1(CASP8):c.411+17T>C
NM_001372051.1(CASP8):c.412-10C>T
NM_001372051.1(CASP8):c.412-16T>G rs1559357686
NM_001372051.1(CASP8):c.412-18del
NM_001372051.1(CASP8):c.412-7C>G
NM_001372051.1(CASP8):c.412-9T>G
NM_001372051.1(CASP8):c.415C>A (p.Leu139Met) rs1948345294
NM_001372051.1(CASP8):c.426T>C (p.Ile142=)
NM_001372051.1(CASP8):c.429_430insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGAAGCTCCCAAGATGACTACCTCCAGCCTCTGGCCACAGGGAACCTTCTTCATATCCCACAAGCAAAGGAGCTGGATATTTTC (p.Phe143_Ile144insPhePhePhePhePhePheXaaXaaXaaXaaGlySerSerGlnAspAspTyrLeuGlnProLeuAlaThrGlyAsnLeuLeuHisIleProGlnAlaLysGluLeuAspIlePhe)
NM_001372051.1(CASP8):c.43G>A (p.Asp15Asn) rs1947837560
NM_001372051.1(CASP8):c.455T>G (p.Leu152Arg)
NM_001372051.1(CASP8):c.474C>T (p.Asp158=)
NM_001372051.1(CASP8):c.480G>C (p.Leu160=) rs2125255316
NM_001372051.1(CASP8):c.483A>G (p.Lys161=)
NM_001372051.1(CASP8):c.485G>T (p.Arg162Ile)
NM_001372051.1(CASP8):c.48T>A (p.Ser16Arg) rs1401364865
NM_001372051.1(CASP8):c.491G>T (p.Cys164Phe)
NM_001372051.1(CASP8):c.492_493del (p.Ala165fs)
NM_001372051.1(CASP8):c.495C>T (p.Ala165=)
NM_001372051.1(CASP8):c.505A>C (p.Lys169Gln)
NM_001372051.1(CASP8):c.509G>A (p.Ser170Asn)
NM_001372051.1(CASP8):c.519G>C (p.Lys173Asn) rs1268336616
NM_001372051.1(CASP8):c.519G>T (p.Lys173Asn)
NM_001372051.1(CASP8):c.520A>G (p.Ile174Val) rs1042533208
NM_001372051.1(CASP8):c.550+11C>G rs1559358136
NM_001372051.1(CASP8):c.550+17A>G
NM_001372051.1(CASP8):c.550+20C>T
NM_001372051.1(CASP8):c.550+3A>G
NM_001372051.1(CASP8):c.607T>A (p.Cys203Ser) rs2125291868
NM_001372051.1(CASP8):c.615A>G (p.Val205=)
NM_001372051.1(CASP8):c.618G>C (p.Met206Ile)
NM_001372051.1(CASP8):c.633T>G (p.Ser211=)
NM_001372051.1(CASP8):c.635C>G (p.Pro212Arg)
NM_001372051.1(CASP8):c.637A>G (p.Arg213Gly) rs2125292256
NM_001372051.1(CASP8):c.651T>G (p.Ser217Arg) rs2125292466
NM_001372051.1(CASP8):c.655T>G (p.Ser219Ala)
NM_001372051.1(CASP8):c.659A>G (p.Gln220Arg) rs1948529448
NM_001372051.1(CASP8):c.661-18T>C
NM_001372051.1(CASP8):c.663T>G (p.Thr221=) rs2125318525
NM_001372051.1(CASP8):c.673G>C (p.Val225Leu) rs2125318792
NM_001372051.1(CASP8):c.679C>T (p.Gln227Ter)
NM_001372051.1(CASP8):c.68A>G (p.Lys23Arg)
NM_001372051.1(CASP8):c.697C>G (p.Arg233Gly)
NM_001372051.1(CASP8):c.698G>A (p.Arg233Gln) rs771150445
NM_001372051.1(CASP8):c.701G>A (p.Gly234Glu) rs1390728717
NM_001372051.1(CASP8):c.706T>C (p.Cys236Arg)
NM_001372051.1(CASP8):c.709C>G (p.Leu237Val) rs1948665527
NM_001372051.1(CASP8):c.749A>G (p.Lys250Arg)
NM_001372051.1(CASP8):c.761T>G (p.Leu254Arg) rs1576347035
NM_001372051.1(CASP8):c.775G>A (p.Asp259Asn) rs573893736
NM_001372051.1(CASP8):c.777C>T (p.Asp259=) rs1576347142
NM_001372051.1(CASP8):c.799G>A (p.Ala267Thr) rs2125321684
NM_001372051.1(CASP8):c.802+7T>A
NM_001372051.1(CASP8):c.802+7T>C
NM_001372051.1(CASP8):c.803-10C>T
NM_001372051.1(CASP8):c.803-2881_803-2880insATCTATCAATGTTATGCCCACTGTGCTCTCCAGCTGTGGTCTG rs1559369386
NM_001372051.1(CASP8):c.808T>C (p.Leu270=)
NM_001372051.1(CASP8):c.812C>G (p.Thr271Ser) rs1553607264
NM_001372051.1(CASP8):c.815C>A (p.Thr272Lys)
NM_001372051.1(CASP8):c.815C>G (p.Thr272Arg) rs139337151
NM_001372051.1(CASP8):c.824A>G (p.Glu275Gly)
NM_001372051.1(CASP8):c.828G>A (p.Glu276=)
NM_001372051.1(CASP8):c.853G>A (p.Asp285Asn) rs1045485
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) rs1045485
NM_001372051.1(CASP8):c.864A>G (p.Thr288=) rs1050673165
NM_001372051.1(CASP8):c.867A>G (p.Val289=)
NM_001372051.1(CASP8):c.879T>A (p.Tyr293Ter) rs1457092267
NM_001372051.1(CASP8):c.883A>G (p.Ile295Val) rs979257464
NM_001372051.1(CASP8):c.896A>C (p.Tyr299Ser) rs1389538802
NM_001372051.1(CASP8):c.901C>A (p.Leu301Ile)
NM_001372051.1(CASP8):c.912C>T (p.His304=)
NM_001372051.1(CASP8):c.918del (p.Asn306fs)
NM_001372051.1(CASP8):c.91C>T (p.Pro31Ser) rs1559350009
NM_001372051.1(CASP8):c.920T>G (p.Met307Arg)
NM_001372051.1(CASP8):c.927C>T (p.Cys309=)
NM_001372051.1(CASP8):c.93G>A (p.Pro31=) rs772151801
NM_001372051.1(CASP8):c.940A>G (p.Ile314Val) rs2125482048
NM_001372051.1(CASP8):c.948C>G (p.Ser316=)
NM_001372051.1(CASP8):c.957C>T (p.Asp319=) rs2125482288
NM_001372051.1(CASP8):c.959A>C (p.Lys320Thr) rs2125482312
NM_001372051.1(CASP8):c.971A>T (p.Tyr324Phe) rs1949486267
NM_001372051.1(CASP8):c.978T>A (p.Thr326=)
NM_001372051.1(CASP8):c.983dup (p.Gln329fs)
NM_001372051.1(CASP8):c.994C>T (p.Pro332Ser) rs779065011
NM_001372051.1(CASP8):c.99G>T (p.Arg33Ser)
NM_001375.3(DNASE2):c.965G>A (p.Gly322Asp) rs1970317070
NM_001378687.1(ATP2C1):c.*1021G>C rs2062932036
NM_001378687.1(ATP2C1):c.*1471T>A rs878906207
NM_001378687.1(ATP2C1):c.*1564C>T rs886057993
NM_001378687.1(ATP2C1):c.*1786G>A rs2062970980
NM_001378687.1(ATP2C1):c.*322ATCT[1] rs886057984
NM_001378687.1(ATP2C1):c.*343T>A rs777719092
NM_001378687.1(ATP2C1):c.*350del rs200037424
NM_001378687.1(ATP2C1):c.*493TGTAA[1] rs141448272
NM_001378687.1(ATP2C1):c.*581T>C rs1236440824
NM_001378687.1(ATP2C1):c.-180-33C>A rs181664730
NM_001378687.1(ATP2C1):c.-180-57C>T rs115940289
NM_001378687.1(ATP2C1):c.-64A>G rs886057980
NM_001378687.1(ATP2C1):c.-80TC[1] rs886057978
NM_001378687.1(ATP2C1):c.1309-13T>C rs533035827
NM_001378687.1(ATP2C1):c.1402C>T (p.Arg468Ter) rs137853013
NM_001378687.1(ATP2C1):c.1469G>T (p.Cys490Phe) rs137853014
NM_001378687.1(ATP2C1):c.1570+3A>C
NM_001378687.1(ATP2C1):c.1571-11T>C rs2061653618
NM_001378687.1(ATP2C1):c.1751T>C (p.Leu584Pro) rs137853015
NM_001378687.1(ATP2C1):c.1840-4del
NM_001378687.1(ATP2C1):c.1840_1844del (p.Val614fs)
NM_001378687.1(ATP2C1):c.1905C>A (p.Asn635Lys) rs781604274
NM_001378687.1(ATP2C1):c.2106C>T (p.Phe702=) rs2062610077
NM_001378687.1(ATP2C1):c.2375_2378del (p.Phe792fs) rs1057517706
NM_001378687.1(ATP2C1):c.2460del (p.Met820fs) rs1560033613
NM_001378687.1(ATP2C1):c.2557A>G (p.Met853Val) rs765124724
NM_001378687.1(ATP2C1):c.2694T>C (p.Val898=) rs886057983
NM_001378687.1(ATP2C1):c.41A>G (p.Asn14Ser) rs2059404554
NM_001378687.1(ATP2C1):c.531+10G>A rs559826369
NM_001378687.1(ATP2C1):c.694G>A (p.Val232Ile) rs1173877573
NM_001378687.1(ATP2C1):c.769_772dup (p.Leu258fs) rs1559971447
NM_001378687.1(ATP2C1):c.900-1G>A rs1559982055
NM_001378687.1(ATP2C1):c.900-1G>C rs1559982055
NM_001378687.1(ATP2C1):c.910G>A (p.Ala304Thr) rs137853012
NM_001378687.1(ATP2C1):c.996G>A (p.Val332=) rs886057982
NM_001715.3(BLK):c.1021T>G (p.Ser341Ala) rs567720261
NM_001715.3(BLK):c.1048T>C (p.Tyr350His) rs758750492
NM_001715.3(BLK):c.391C>T (p.Arg131Trp) rs73663163
NM_001715.3(BLK):c.39G>A (p.Lys13=) rs142129056
NM_001715.3(BLK):c.843T>G (p.Phe281Leu) rs2306234
NM_001715.3(BLK):c.919C>G (p.Pro307Ala) rs1307379746
NM_001844.5(COL2A1):c.193G>A (p.Asp65Asn) rs1940156255
NM_001844.5(COL2A1):c.3936G>T (p.Lys1312Asn) rs745788222
NM_001844.5(COL2A1):c.4013G>A (p.Ser1338Asn) rs2136508302
NM_002524.5(NRAS):c.25G>A (p.Val9Ile) rs1553244682
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002693.3(POLG):c.641C>T (p.Ala214Val) rs948866053
NM_003200.5(TCF3):c.1040A>C (p.Asn347Thr) rs1369361815
NM_003263.4(TLR1):c.1324T>C (p.Cys442Arg) rs773682011
NM_003745.2(SOCS1):c.24del (p.Ala9fs) rs2069587477
NM_003745.2(SOCS1):c.368C>G (p.Pro123Arg) rs1244284678
NM_003745.2(SOCS1):c.460T>C (p.Tyr154His) rs2069578995
NM_003745.2(SOCS1):c.476_480dup (p.Met161fs) rs1470306246
NM_003745.2(SOCS1):c.64C>T (p.Arg22Trp) rs2069586831
NM_004001.4(FCGR2B):c.-386G>C rs3219018
NM_004944.4(DNASE1L3):c.112G>A (p.Asp38Asn) rs148208826
NM_004944.4(DNASE1L3):c.112G>C (p.Asp38His) rs148208826
NM_004944.4(DNASE1L3):c.179T>G (p.Ile60Ser) rs2097405348
NM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs) rs751206379
NM_004944.4(DNASE1L3):c.307G>C (p.Ala103Pro)
NM_004944.4(DNASE1L3):c.384T>A (p.Asp128Glu) rs374838291
NM_004944.4(DNASE1L3):c.424C>A (p.Pro142Thr) rs563166164
NM_004944.4(DNASE1L3):c.519G>C (p.Thr173=) rs138720416
NM_004944.4(DNASE1L3):c.537G>A (p.Trp179Ter) rs2107373870
NM_004944.4(DNASE1L3):c.563G>C (p.Gly188Ala) rs1313460433
NM_004944.4(DNASE1L3):c.643del (p.Trp215fs) rs1575496354
NM_004944.4(DNASE1L3):c.729C>G (p.Ile243Met) rs76440799
NM_004944.4(DNASE1L3):c.7C>G (p.Arg3Gly) rs202183427
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) rs121913535
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_004990.3(MARS):c.[1700C>T;1177G>A]
NM_004990.3(MARS1):c.[1031A>G];[1177G>A[1700C>T]
NM_004990.4(MARS1):c.1814A>T (p.Asp605Val) rs756021768
NM_005214.4(CTLA4):c.110_118delCAATGCACG rs1559591640
NM_005214.5(CTLA4):c.105C>A (p.Cys35Ter) rs606231420
NM_005214.5(CTLA4):c.109+1G>A rs606231421
NM_005214.5(CTLA4):c.109+1G>T rs606231421
NM_005214.5(CTLA4):c.110-16G>T
NM_005214.5(CTLA4):c.110-1G>A
NM_005214.5(CTLA4):c.110-4C>G
NM_005214.5(CTLA4):c.110-7A>T
NM_005214.5(CTLA4):c.115_139delinsGAAAA (p.His39fs) rs1688711686
NM_005214.5(CTLA4):c.118G>A (p.Val40Met) rs1553657378
NM_005214.5(CTLA4):c.137T>C (p.Val46Ala) rs2105775135
NM_005214.5(CTLA4):c.141G>A (p.Leu47=) rs776726776
NM_005214.5(CTLA4):c.143C>A (p.Ala48Asp)
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter) rs606231417
NM_005214.5(CTLA4):c.154G>A (p.Gly52Ser)
NM_005214.5(CTLA4):c.155G>T (p.Gly52Val) rs1688712533
NM_005214.5(CTLA4):c.159C>T (p.Ile53=) rs765325921
NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr) rs1553657387
NM_005214.5(CTLA4):c.160G>C (p.Ala54Pro)
NM_005214.5(CTLA4):c.164G>A (p.Ser55Asn)
NM_005214.5(CTLA4):c.172_175del (p.Cys58fs) rs1688712720
NM_005214.5(CTLA4):c.173G>C (p.Cys58Ser) rs1581573671
NM_005214.5(CTLA4):c.173G>T (p.Cys58Phe)
NM_005214.5(CTLA4):c.177G>A (p.Glu59=) rs1581573676
NM_005214.5(CTLA4):c.180T>C (p.Tyr60=)
NM_005214.5(CTLA4):c.188C>T (p.Pro63Leu)
NM_005214.5(CTLA4):c.194A>G (p.Lys65Arg)
NM_005214.5(CTLA4):c.198C>A (p.Ala66=) rs979522213
NM_005214.5(CTLA4):c.205G>A (p.Val69Ile)
NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp) rs606231422
NM_005214.5(CTLA4):c.211del (p.Arg70_Val71insTer) rs1559591695
NM_005214.5(CTLA4):c.213G>C (p.Val71=) rs1688713996
NM_005214.5(CTLA4):c.216dup (p.Val73fs)
NM_005214.5(CTLA4):c.223C>A (p.Arg75=)
NM_005214.5(CTLA4):c.224G>A (p.Arg75Gln) rs1196646336
NM_005214.5(CTLA4):c.226C>T (p.Gln76Ter) rs1688714490
NM_005214.5(CTLA4):c.229G>A (p.Ala77Thr)
NM_005214.5(CTLA4):c.238C>G (p.Gln80Glu)
NM_005214.5(CTLA4):c.238C>T (p.Gln80Ter) rs1688714703
NM_005214.5(CTLA4):c.23G>T (p.Arg8Leu)
NM_005214.5(CTLA4):c.246T>C (p.Thr82=)
NM_005214.5(CTLA4):c.254G>A (p.Cys85Tyr) rs2105775283
NM_005214.5(CTLA4):c.254G>C (p.Cys85Ser)
NM_005214.5(CTLA4):c.255T>G (p.Cys85Trp) rs1688715115
NM_005214.5(CTLA4):c.257C>G (p.Ala86Gly) rs376038796
NM_005214.5(CTLA4):c.258G>A (p.Ala86=)
NM_005214.5(CTLA4):c.260del (p.Ala87fs) rs1688715336
NM_005214.5(CTLA4):c.263C>A (p.Thr88Asn)
NM_005214.5(CTLA4):c.266A>G (p.Tyr89Cys) rs1559591751
NM_005214.5(CTLA4):c.272T>G (p.Met91Arg) rs1065442
NM_005214.5(CTLA4):c.288C>T (p.Thr96=)
NM_005214.5(CTLA4):c.295G>C (p.Asp99His)
NM_005214.5(CTLA4):c.300T>C (p.Asp100=)
NM_005214.5(CTLA4):c.304A>G (p.Ile102Val)
NM_005214.5(CTLA4):c.308G>A (p.Cys103Tyr)
NM_005214.5(CTLA4):c.309C>T (p.Cys103=) rs1291592984
NM_005214.5(CTLA4):c.30G>A (p.Lys10=) rs1688657524
NM_005214.5(CTLA4):c.312G>C (p.Thr104=)
NM_005214.5(CTLA4):c.315C>T (p.Gly105=)
NM_005214.5(CTLA4):c.325G>A (p.Gly109Arg)
NM_005214.5(CTLA4):c.344C>T (p.Thr115Ile)
NM_005214.5(CTLA4):c.345T>C (p.Thr115=) rs2105775415
NM_005214.5(CTLA4):c.349C>T (p.Gln117Ter) rs1688716836
NM_005214.5(CTLA4):c.352G>A (p.Gly118Arg) rs764089901
NM_005214.5(CTLA4):c.356T>A (p.Leu119Gln)
NM_005214.5(CTLA4):c.364A>G (p.Met122Val)
NM_005214.5(CTLA4):c.370A>C (p.Thr124Pro)
NM_005214.5(CTLA4):c.370A>T (p.Thr124Ser) rs1286462906
NM_005214.5(CTLA4):c.373G>A (p.Gly125Arg) rs1553657427
NM_005214.5(CTLA4):c.374G>A (p.Gly125Glu) rs1553657428
NM_005214.5(CTLA4):c.37_53del (p.Leu13fs) rs1581571813
NM_005214.5(CTLA4):c.380A>G (p.Tyr127Cys) rs1688717498
NM_005214.5(CTLA4):c.381C>A (p.Tyr127Ter)
NM_005214.5(CTLA4):c.385T>A (p.Cys129Ser) rs2105775473
NM_005214.5(CTLA4):c.390G>A (p.Lys130=)
NM_005214.5(CTLA4):c.394G>A (p.Glu132Lys) rs1581573888
NM_005214.5(CTLA4):c.397C>A (p.Leu133Ile) rs1688717773
NM_005214.5(CTLA4):c.400A>G (p.Met134Val)
NM_005214.5(CTLA4):c.410C>A (p.Pro137Gln) rs1553657429
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005214.5(CTLA4):c.412C>A (p.Pro138Thr) rs1553657430
NM_005214.5(CTLA4):c.413C>T (p.Pro138Leu)
NM_005214.5(CTLA4):c.415T>C (p.Tyr139His)
NM_005214.5(CTLA4):c.416A>C (p.Tyr139Ser) rs1581573923
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys) rs1581573923
NM_005214.5(CTLA4):c.417C>T (p.Tyr139=) rs2105775510
NM_005214.5(CTLA4):c.420C>A (p.Tyr140Ter) rs1357409506
NM_005214.5(CTLA4):c.420C>T (p.Tyr140=)
NM_005214.5(CTLA4):c.421C>T (p.Leu141=) rs752339954
NM_005214.5(CTLA4):c.422T>C (p.Leu141Pro) rs1357774202
NM_005214.5(CTLA4):c.430G>A (p.Gly144Ser)
NM_005214.5(CTLA4):c.430G>T (p.Gly144Cys) rs1559591850
NM_005214.5(CTLA4):c.432C>T (p.Gly144=) rs2105775528
NM_005214.5(CTLA4):c.436G>A (p.Gly146Arg) rs1688718864
NM_005214.5(CTLA4):c.436_437delinsCT (p.Gly146Leu) rs1559591863
NM_005214.5(CTLA4):c.439A>G (p.Thr147Ala) rs1466152724
NM_005214.5(CTLA4):c.450T>G (p.Tyr150Ter)
NM_005214.5(CTLA4):c.455T>C (p.Ile152Thr) rs1688719095
NM_005214.5(CTLA4):c.456T>A (p.Ile152=) rs1242260236
NM_005214.5(CTLA4):c.457+12C>A
NM_005214.5(CTLA4):c.457+13A>G
NM_005214.5(CTLA4):c.457+4A>G rs1553657438
NM_005214.5(CTLA4):c.457+6C>G rs1688719278
NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn) rs1581573970
NM_005214.5(CTLA4):c.457G>T (p.Asp153Tyr)
NM_005214.5(CTLA4):c.458-19G>A
NM_005214.5(CTLA4):c.458-1G>C rs1688729428
NM_005214.5(CTLA4):c.458-1G>T rs1688729428
NM_005214.5(CTLA4):c.460C>A (p.Pro154Thr)
NM_005214.5(CTLA4):c.463G>A (p.Glu155Lys) rs2105775980
NM_005214.5(CTLA4):c.482A>C (p.Asp161Ala) rs2105776000
NM_005214.5(CTLA4):c.487C>G (p.Leu163Val) rs1581574315
NM_005214.5(CTLA4):c.487C>T (p.Leu163Phe)
NM_005214.5(CTLA4):c.494G>A (p.Trp165Ter)
NM_005214.5(CTLA4):c.4_5insGTTGG (p.Ala2fs) rs1688656690
NM_005214.5(CTLA4):c.506C>A (p.Ala169Glu)
NM_005214.5(CTLA4):c.50C>T (p.Thr17Ile)
NM_005214.5(CTLA4):c.519GTT[1] (p.Leu174del)
NM_005214.5(CTLA4):c.522del (p.Leu174fs) rs2105776035
NM_005214.5(CTLA4):c.524T>A (p.Phe175Tyr)
NM_005214.5(CTLA4):c.529dup (p.Tyr177fs) rs1688731180
NM_005214.5(CTLA4):c.531T>A (p.Tyr177Ter) rs1688731278
NM_005214.5(CTLA4):c.538C>A (p.Leu180Ile)
NM_005214.5(CTLA4):c.539T>C (p.Leu180Pro) rs1688731438
NM_005214.5(CTLA4):c.543C>T (p.Leu181=)
NM_005214.5(CTLA4):c.567+1G>A rs1553657487
NM_005214.5(CTLA4):c.567+3G>A rs1688732320
NM_005214.5(CTLA4):c.567+5G>A
NM_005214.5(CTLA4):c.567+5G>C rs606231419
NM_005214.5(CTLA4):c.567G>A (p.Met189Ile) rs1688732243
NM_005214.5(CTLA4):c.568-13T>G
NM_005214.5(CTLA4):c.568-16T>C
NM_005214.5(CTLA4):c.568C>T (p.Leu190=)
NM_005214.5(CTLA4):c.56C>T (p.Thr19Ile)
NM_005214.5(CTLA4):c.588T>C (p.Leu196=)
NM_005214.5(CTLA4):c.596G>A (p.Gly199Glu) rs2105777131
NM_005214.5(CTLA4):c.597G>T (p.Gly199=)
NM_005214.5(CTLA4):c.598G>T (p.Val200Phe) rs1046533169
NM_005214.5(CTLA4):c.624G>A (p.Glu208=)
NM_005214.5(CTLA4):c.625C>G (p.Pro209Ala) rs1688757670
NM_005214.5(CTLA4):c.632G>A (p.Cys211Tyr) rs1688757847
NM_005214.5(CTLA4):c.654T>A (p.Tyr218Ter)
NM_005214.5(CTLA4):c.654T>C (p.Tyr218=)
NM_005214.5(CTLA4):c.659T>C (p.Ile220Thr)
NM_005214.5(CTLA4):c.665T>A (p.Ile222Asn) rs1688758291
NM_005214.5(CTLA4):c.669T>C (p.Asn223=)
NM_005214.5(CTLA4):c.68C>T (p.Thr23Ile) rs1365829864
NM_005214.5(CTLA4):c.71_72del (p.Leu24fs) rs2105772857
NM_005214.5(CTLA4):c.75del (p.Leu28fs) rs606231418
NM_005214.5(CTLA4):c.81T>C (p.Phe27=)
NM_005214.5(CTLA4):c.81dup (p.Leu28fs) rs1581571901
NM_005214.5(CTLA4):c.84T>C (p.Leu28=)
NM_005214.5(CTLA4):c.87C>G (p.Leu29=) rs145950656
NM_005214.5(CTLA4):c.93C>T (p.Ile31=) rs1315404501
NM_005214.5(CTLA4):c.97G>A (p.Val33Ile) rs2105772910
NM_005223.4(DNASE1):c.13A>T (p.Lys5Ter) rs121912990
NM_005223.4(DNASE1):c.385G>A (p.Asp129Asn)
NM_006254.4(PRKCD):c.1003G>A (p.Gly335Ser) rs564822118
NM_006254.4(PRKCD):c.1017G>A (p.Glu339=)
NM_006254.4(PRKCD):c.1025G>T (p.Ser342Ile)
NM_006254.4(PRKCD):c.1029G>A (p.Lys343=) rs2107276703
NM_006254.4(PRKCD):c.1034A>T (p.Asn345Ile)
NM_006254.4(PRKCD):c.1040A>G (p.Asn347Ser) rs1553668944
NM_006254.4(PRKCD):c.1041C>A (p.Asn347Lys)
NM_006254.4(PRKCD):c.1047C>T (p.Phe349=)
NM_006254.4(PRKCD):c.1053C>T (p.Phe351=)
NM_006254.4(PRKCD):c.1059G>C (p.Lys353Asn)
NM_006254.4(PRKCD):c.105G>A (p.Ala35=) rs141615361
NM_006254.4(PRKCD):c.105G>T (p.Ala35=)
NM_006254.4(PRKCD):c.1060G>C (p.Val354Leu) rs782601434
NM_006254.4(PRKCD):c.1077C>T (p.Ser359=)
NM_006254.4(PRKCD):c.1080C>T (p.Phe360=)
NM_006254.4(PRKCD):c.1081G>A (p.Gly361Arg) rs369078144
NM_006254.4(PRKCD):c.1083G>T (p.Gly361=)
NM_006254.4(PRKCD):c.1086+16_1086+26del
NM_006254.4(PRKCD):c.1086+17G>A
NM_006254.4(PRKCD):c.1086+20C>T
NM_006254.4(PRKCD):c.1087-12T>A rs2107277347
NM_006254.4(PRKCD):c.1087-15G>A
NM_006254.4(PRKCD):c.1087-15G>T
NM_006254.4(PRKCD):c.1087-16C>T
NM_006254.4(PRKCD):c.1102C>A (p.Leu368Met)
NM_006254.4(PRKCD):c.1102C>G (p.Leu368Val)
NM_006254.4(PRKCD):c.1113A>G (p.Arg371=) rs1257740596
NM_006254.4(PRKCD):c.1118A>G (p.Glu373Gly)
NM_006254.4(PRKCD):c.116-17G>A
NM_006254.4(PRKCD):c.116-7G>C rs1703347409
NM_006254.4(PRKCD):c.1161C>T (p.Ile387=) rs782384878
NM_006254.4(PRKCD):c.1164C>T (p.Asp388=)
NM_006254.4(PRKCD):c.1165G>A (p.Asp389Asn)
NM_006254.4(PRKCD):c.1170C>T (p.Asp390=)
NM_006254.4(PRKCD):c.1180A>G (p.Thr394Ala)
NM_006254.4(PRKCD):c.1182del (p.Met395fs)
NM_006254.4(PRKCD):c.1196G>C (p.Arg399Pro)
NM_006254.4(PRKCD):c.119G>A (p.Arg40His)
NM_006254.4(PRKCD):c.1201C>T (p.Leu401=) rs2107277772
NM_006254.4(PRKCD):c.1211C>G (p.Ala404Gly) rs782150167
NM_006254.4(PRKCD):c.1213G>T (p.Ala405Ser)
NM_006254.4(PRKCD):c.1233C>T (p.Thr411=)
NM_006254.4(PRKCD):c.1240A>C (p.Ile414Leu)
NM_006254.4(PRKCD):c.1260+19_1260+34dup
NM_006254.4(PRKCD):c.1260+3G>T
NM_006254.4(PRKCD):c.1261-14C>A
NM_006254.4(PRKCD):c.1269G>A (p.Leu423=) rs781864780
NM_006254.4(PRKCD):c.1292A>G (p.Asn431Ser)
NM_006254.4(PRKCD):c.1294G>A (p.Gly432Arg) rs1190070838
NM_006254.4(PRKCD):c.1296G>T (p.Gly432=) rs781784839
NM_006254.4(PRKCD):c.1300dup (p.Asp434fs) rs1559629912
NM_006254.4(PRKCD):c.1301del (p.Asp434fs) rs781824115
NM_006254.4(PRKCD):c.1306A>T (p.Met436Leu) rs1439886101
NM_006254.4(PRKCD):c.1329C>T (p.Gly443=) rs1018675596
NM_006254.4(PRKCD):c.1330C>T (p.Arg444Cys)
NM_006254.4(PRKCD):c.1331G>A (p.Arg444His)
NM_006254.4(PRKCD):c.1332C>A (p.Arg444=)
NM_006254.4(PRKCD):c.1345C>T (p.Arg449Cys) rs1575542392
NM_006254.4(PRKCD):c.1352+1G>A rs398122958
NM_006254.4(PRKCD):c.1353-11C>T
NM_006254.4(PRKCD):c.1353-16C>A
NM_006254.4(PRKCD):c.1353-4C>T rs782614340
NM_006254.4(PRKCD):c.1353-8_1353-7del rs2107281087
NM_006254.4(PRKCD):c.1384C>T (p.Gln462Ter) rs1553669486
NM_006254.4(PRKCD):c.1396A>G (p.Ser466Gly)
NM_006254.4(PRKCD):c.139AAG[1] (p.Lys48del) rs2107256592
NM_006254.4(PRKCD):c.140A>C (p.Lys47Thr) rs1553666756
NM_006254.4(PRKCD):c.1415+11G>C rs1703747131
NM_006254.4(PRKCD):c.1415+4C>T
NM_006254.4(PRKCD):c.1415+5G>A
NM_006254.4(PRKCD):c.141G>C (p.Lys47Asn)
NM_006254.4(PRKCD):c.1433A>G (p.Asn478Ser)
NM_006254.4(PRKCD):c.1439T>C (p.Leu480Pro) rs1703806197
NM_006254.4(PRKCD):c.1450G>A (p.Asp484Asn) rs1703807403
NM_006254.4(PRKCD):c.1458C>T (p.His486=) rs1553670016
NM_006254.4(PRKCD):c.1469C>T (p.Ala490Val)
NM_006254.4(PRKCD):c.1501G>A (p.Gly501Arg)
NM_006254.4(PRKCD):c.1510C>A (p.Arg504=)
NM_006254.4(PRKCD):c.1511G>T (p.Arg504Leu)
NM_006254.4(PRKCD):c.1515C>T (p.Ala505=)
NM_006254.4(PRKCD):c.151A>G (p.Met51Val)
NM_006254.4(PRKCD):c.1528G>A (p.Gly510Ser) rs606231296
NM_006254.4(PRKCD):c.1554+14C>G
NM_006254.4(PRKCD):c.1554+8G>C rs141412493
NM_006254.4(PRKCD):c.1555-12C>A
NM_006254.4(PRKCD):c.1555-14C>G
NM_006254.4(PRKCD):c.1555-17G>A rs2107285944
NM_006254.4(PRKCD):c.1566C>T (p.Gly522=)
NM_006254.4(PRKCD):c.1569G>A (p.Leu523=)
NM_006254.4(PRKCD):c.1602C>T (p.Phe534=)
NM_006254.4(PRKCD):c.1637C>A (p.Ser546Tyr)
NM_006254.4(PRKCD):c.1637C>T (p.Ser546Phe) rs1703824527
NM_006254.4(PRKCD):c.1641C>G (p.Pro547=)
NM_006254.4(PRKCD):c.1652A>G (p.Asp551Gly) rs1703825504
NM_006254.4(PRKCD):c.1702C>T (p.Pro568Ser) rs1703828073
NM_006254.4(PRKCD):c.1707C>G (p.Arg569=) rs1575544912
NM_006254.4(PRKCD):c.170C>T (p.Ser57Leu) rs913175157
NM_006254.4(PRKCD):c.171G>A (p.Ser57=)
NM_006254.4(PRKCD):c.1722G>T (p.Glu574Asp) rs2107286422
NM_006254.4(PRKCD):c.1729G>A (p.Asp577Asn)
NM_006254.4(PRKCD):c.1743+10CTGGG[4] rs1192292366
NM_006254.4(PRKCD):c.1743+10CTGGG[5]
NM_006254.4(PRKCD):c.1743+20C>T
NM_006254.4(PRKCD):c.1743+29_1743+38del rs782221968
NM_006254.4(PRKCD):c.1743+29_1743+43del rs782585539
NM_006254.4(PRKCD):c.1743+2T>A
NM_006254.4(PRKCD):c.1743+9C>T
NM_006254.4(PRKCD):c.1744-18G>T
NM_006254.4(PRKCD):c.1744-20G>C
NM_006254.4(PRKCD):c.1763C>G (p.Thr588Ser) rs1703859591
NM_006254.4(PRKCD):c.1776A>C (p.Gly592=)
NM_006254.4(PRKCD):c.1781_1782delinsTG (p.Thr594Met) rs1575545467
NM_006254.4(PRKCD):c.1784G>A (p.Gly595Glu) rs1352945164
NM_006254.4(PRKCD):c.1788C>T (p.Asn596=) rs1703861452
NM_006254.4(PRKCD):c.1797C>G (p.Ile599Met)
NM_006254.4(PRKCD):c.1801C>G (p.Pro601Ala) rs1703861977
NM_006254.4(PRKCD):c.1805T>C (p.Phe602Ser)
NM_006254.4(PRKCD):c.1822T>C (p.Trp608Arg) rs1703863535
NM_006254.4(PRKCD):c.1831C>A (p.Leu611Met)
NM_006254.4(PRKCD):c.1847T>G (p.Leu616Trp) rs2107288493
NM_006254.4(PRKCD):c.1871T>C (p.Val624Ala) rs782223641
NM_006254.4(PRKCD):c.1872+11C>G
NM_006254.4(PRKCD):c.1872+13G>A
NM_006254.4(PRKCD):c.1872+1G>A rs782367516
NM_006254.4(PRKCD):c.1873-19C>T
NM_006254.4(PRKCD):c.1873-20C>T
NM_006254.4(PRKCD):c.1873-3T>C rs1703944773
NM_006254.4(PRKCD):c.187A>G (p.Ile63Val)
NM_006254.4(PRKCD):c.1881C>G (p.Pro627=) rs199634315
NM_006254.4(PRKCD):c.1881C>T (p.Pro627=)
NM_006254.4(PRKCD):c.1893T>G (p.Ser631Arg)
NM_006254.4(PRKCD):c.189C>T (p.Ile63=) rs2107256827
NM_006254.4(PRKCD):c.1917C>T (p.Asn639=)
NM_006254.4(PRKCD):c.1926_1927delinsAT (p.Arg643Cys)
NM_006254.4(PRKCD):c.1944C>T (p.Asp648=)
NM_006254.4(PRKCD):c.1980C>T (p.Phe660=)
NM_006254.4(PRKCD):c.1998G>A (p.Val666=) rs1575547280
NM_006254.4(PRKCD):c.2001C>T (p.Asn667=)
NM_006254.4(PRKCD):c.2016C>A (p.His672Gln) rs1553671108
NM_006254.4(PRKCD):c.201C>T (p.Arg67=)
NM_006254.4(PRKCD):c.2024A>G (p.Glu675Gly)
NM_006254.4(PRKCD):c.2026G>T (p.Asp676Tyr) rs2107293780
NM_006254.4(PRKCD):c.2030G>T (p.Ter677Leu) rs2107293797
NM_006254.4(PRKCD):c.214G>A (p.Val72Met) rs151061939
NM_006254.4(PRKCD):c.250G>A (p.Val84Met)
NM_006254.4(PRKCD):c.250G>T (p.Val84Leu) rs1327842167
NM_006254.4(PRKCD):c.266C>T (p.Ser89Leu)
NM_006254.4(PRKCD):c.271C>T (p.Leu91=) rs79725471
NM_006254.4(PRKCD):c.280C>T (p.Arg94Cys) rs963574725
NM_006254.4(PRKCD):c.285C>A (p.Cys95Ter) rs2107257357
NM_006254.4(PRKCD):c.287A>G (p.Lys96Arg)
NM_006254.4(PRKCD):c.305C>T (p.Ala102Val) rs2107257453
NM_006254.4(PRKCD):c.309G>A (p.Glu103=)
NM_006254.4(PRKCD):c.30C>A (p.Asn10Lys)
NM_006254.4(PRKCD):c.315+13C>T
NM_006254.4(PRKCD):c.315+17C>T
NM_006254.4(PRKCD):c.315+18C>T
NM_006254.4(PRKCD):c.315+19G>A rs1703363074
NM_006254.4(PRKCD):c.315+7G>A rs1559623472
NM_006254.4(PRKCD):c.315+8G>T
NM_006254.4(PRKCD):c.315G>A (p.Trp105Ter) rs2107257487
NM_006254.4(PRKCD):c.316-7C>T
NM_006254.4(PRKCD):c.339G>A (p.Lys113=)
NM_006254.4(PRKCD):c.340G>C (p.Val114Leu) rs2107261818
NM_006254.4(PRKCD):c.343T>C (p.Leu115=)
NM_006254.4(PRKCD):c.360T>C (p.Tyr120=)
NM_006254.4(PRKCD):c.376+12C>T
NM_006254.4(PRKCD):c.376+13T>G rs781826392
NM_006254.4(PRKCD):c.376+15G>T
NM_006254.4(PRKCD):c.376+16G>T
NM_006254.4(PRKCD):c.376+6A>G rs2107261999
NM_006254.4(PRKCD):c.376+9T>C rs2107262029
NM_006254.4(PRKCD):c.376G>T (p.Asp126Tyr) rs1553667410
NM_006254.4(PRKCD):c.377-7T>A rs372103939
NM_006254.4(PRKCD):c.389C>T (p.Ser130Phe)
NM_006254.4(PRKCD):c.405C>G (p.Asp135Glu) rs200462015
NM_006254.4(PRKCD):c.417C>G (p.Phe139Leu) rs56208295
NM_006254.4(PRKCD):c.420A>G (p.Pro140=) rs2107262755
NM_006254.4(PRKCD):c.421A>G (p.Thr141Ala) rs1703439359
NM_006254.4(PRKCD):c.422C>T (p.Thr141Met)
NM_006254.4(PRKCD):c.423G>A (p.Thr141=)
NM_006254.4(PRKCD):c.433C>T (p.Arg145Cys) rs2107262808
NM_006254.4(PRKCD):c.442A>G (p.Ile148Val) rs1559624784
NM_006254.4(PRKCD):c.446A>G (p.Lys149Arg) rs74793932
NM_006254.4(PRKCD):c.44G>A (p.Gly15Asp) rs369358922
NM_006254.4(PRKCD):c.458T>C (p.Ile153Thr) rs370103982
NM_006254.4(PRKCD):c.474C>T (p.Asn158=)
NM_006254.4(PRKCD):c.486C>T (p.Ile162=)
NM_006254.4(PRKCD):c.488C>T (p.Ala163Val)
NM_006254.4(PRKCD):c.522G>A (p.Val174=)
NM_006254.4(PRKCD):c.531C>T (p.Asp177=) rs1240610213
NM_006254.4(PRKCD):c.539+16G>A
NM_006254.4(PRKCD):c.540-17T>C
NM_006254.4(PRKCD):c.540-9G>C
NM_006254.4(PRKCD):c.544C>T (p.Leu182Phe) rs1553667592
NM_006254.4(PRKCD):c.563A>G (p.Lys188Arg)
NM_006254.4(PRKCD):c.56C>T (p.Ala19Val) rs2107253193
NM_006254.4(PRKCD):c.571+15A>G
NM_006254.4(PRKCD):c.571+17G>A
NM_006254.4(PRKCD):c.571+1G>A
NM_006254.4(PRKCD):c.571+2dup rs2107263484
NM_006254.4(PRKCD):c.571+7G>A
NM_006254.4(PRKCD):c.571C>T (p.Gln191Ter) rs576747810
NM_006254.4(PRKCD):c.572-6T>C rs2107267620
NM_006254.4(PRKCD):c.576T>C (p.Cys192=)
NM_006254.4(PRKCD):c.578A>G (p.Asn193Ser) rs2107267626
NM_006254.4(PRKCD):c.57C>A (p.Ala19=) rs377115507
NM_006254.4(PRKCD):c.57C>G (p.Ala19=) rs377115507
NM_006254.4(PRKCD):c.581C>T (p.Ala194Val) rs1553668112
NM_006254.4(PRKCD):c.610A>T (p.Ile204Phe) rs1575537929
NM_006254.4(PRKCD):c.618C>T (p.Gly206=)
NM_006254.4(PRKCD):c.642del (p.Asn214fs) rs2107267894
NM_006254.4(PRKCD):c.646C>T (p.Arg216Trp) rs782269447
NM_006254.4(PRKCD):c.651C>T (p.Asp217=) rs2107267952
NM_006254.4(PRKCD):c.657+10G>T
NM_006254.4(PRKCD):c.657+14C>T
NM_006254.4(PRKCD):c.657+6C>G rs1397485856
NM_006254.4(PRKCD):c.657+8T>C
NM_006254.4(PRKCD):c.658-11C>G
NM_006254.4(PRKCD):c.658-14A>G
NM_006254.4(PRKCD):c.658-19G>A
NM_006254.4(PRKCD):c.658-9del
NM_006254.4(PRKCD):c.660C>T (p.Phe220=)
NM_006254.4(PRKCD):c.663G>A (p.Gln221=)
NM_006254.4(PRKCD):c.671G>A (p.Arg224His) rs1553668239
NM_006254.4(PRKCD):c.680T>C (p.Ile227Thr)
NM_006254.4(PRKCD):c.681C>T (p.Ile227=)
NM_006254.4(PRKCD):c.690G>A (p.Pro230=) rs55865871
NM_006254.4(PRKCD):c.69G>A (p.Ala23=)
NM_006254.4(PRKCD):c.6G>A (p.Ala2=) rs1273815639
NM_006254.4(PRKCD):c.703G>A (p.Val235Ile) rs782573482
NM_006254.4(PRKCD):c.743G>A (p.Gly248Asp) rs1703547897
NM_006254.4(PRKCD):c.744C>T (p.Gly248=) rs147545646
NM_006254.4(PRKCD):c.750G>A (p.Leu250=) rs2107269090
NM_006254.4(PRKCD):c.771G>A (p.Gln257=)
NM_006254.4(PRKCD):c.778A>C (p.Lys260Gln)
NM_006254.4(PRKCD):c.787+15G>A
NM_006254.4(PRKCD):c.787+15G>C rs369696959
NM_006254.4(PRKCD):c.787+3G>A
NM_006254.4(PRKCD):c.788-12C>T
NM_006254.4(PRKCD):c.788-18G>A
NM_006254.4(PRKCD):c.788-19C>T
NM_006254.4(PRKCD):c.788-1G>T
NM_006254.4(PRKCD):c.788-3C>T
NM_006254.4(PRKCD):c.804G>A (p.Val268=)
NM_006254.4(PRKCD):c.818G>A (p.Arg273Gln)
NM_006254.4(PRKCD):c.820G>A (p.Glu274Lys) rs1553668639
NM_006254.4(PRKCD):c.826G>T (p.Val276Leu) rs1553668642
NM_006254.4(PRKCD):c.846C>A (p.Ile282=)
NM_006254.4(PRKCD):c.846C>T (p.Ile282=) rs372028715
NM_006254.4(PRKCD):c.87C>T (p.Ala29=)
NM_006254.4(PRKCD):c.888+12C>T
NM_006254.4(PRKCD):c.888+19G>A
NM_006254.4(PRKCD):c.889-11T>C
NM_006254.4(PRKCD):c.889-20C>A rs369329996
NM_006254.4(PRKCD):c.889-20C>G rs369329996
NM_006254.4(PRKCD):c.889-4C>T
NM_006254.4(PRKCD):c.88G>A (p.Val30Met) rs1703300399
NM_006254.4(PRKCD):c.892G>A (p.Ala298Thr) rs2107275432
NM_006254.4(PRKCD):c.896C>T (p.Ser299Phe) rs1703646229
NM_006254.4(PRKCD):c.902G>T (p.Arg301Ile) rs2107275476
NM_006254.4(PRKCD):c.90G>A (p.Val30=) rs1437451277
NM_006254.4(PRKCD):c.90G>C (p.Val30=) rs1437451277
NM_006254.4(PRKCD):c.912A>G (p.Ser304=) rs529176751
NM_006254.4(PRKCD):c.915C>A (p.Ala305=) rs201862364
NM_006254.4(PRKCD):c.932G>A (p.Gly311Glu) rs2107275603
NM_006254.4(PRKCD):c.939T>C (p.Tyr313=)
NM_006254.4(PRKCD):c.940C>G (p.Gln314Glu) rs1553668823
NM_006254.4(PRKCD):c.975G>A (p.Glu325=)
NM_006254.4(PRKCD):c.985+12T>G
NM_006254.4(PRKCD):c.985+18G>A
NM_006254.4(PRKCD):c.985+19C>T
NM_006254.4(PRKCD):c.986-12T>A
NM_006254.4(PRKCD):c.998C>A (p.Thr333Asn) rs1703664468
NM_007315.4(STAT1):c.1014G>A (p.Gly338=) rs2125048169
NM_007315.4(STAT1):c.1037+18G>A
NM_007315.4(STAT1):c.1037+8G>A
NM_007315.4(STAT1):c.1038-9dup
NM_007315.4(STAT1):c.1038A>C (p.Arg346Ser) rs1693169265
NM_007315.4(STAT1):c.1050A>G (p.Lys350=) rs372304509
NM_007315.4(STAT1):c.1052T>G (p.Leu351Trp) rs1559013693
NM_007315.4(STAT1):c.1053G>C (p.Leu351Phe) rs1064794955
NM_007315.4(STAT1):c.1066T>G (p.Tyr356Asp)
NM_007315.4(STAT1):c.1067A>G (p.Tyr356Cys) rs2125043988
NM_007315.4(STAT1):c.1069A>G (p.Asn357Asp) rs2125043975
NM_007315.4(STAT1):c.1073T>C (p.Leu358Ser) rs2125043967
NM_007315.4(STAT1):c.1078G>T (p.Val360Phe) rs2125043964
NM_007315.4(STAT1):c.1097+17A>G
NM_007315.4(STAT1):c.1097+20A>G
NM_007315.4(STAT1):c.1098-12_1098-11insA
NM_007315.4(STAT1):c.1098-15A>G
NM_007315.4(STAT1):c.1098-18T>C
NM_007315.4(STAT1):c.1098-19AT[2] rs747888324
NM_007315.4(STAT1):c.1098-19dup rs2125035970
NM_007315.4(STAT1):c.1098-5del rs200288904
NM_007315.4(STAT1):c.1098-5dup rs200288904
NM_007315.4(STAT1):c.1106A>G (p.Asn369Ser)
NM_007315.4(STAT1):c.1112_1114del (p.Arg371del)
NM_007315.4(STAT1):c.1124A>G (p.Lys375Arg)
NM_007315.4(STAT1):c.1127+13C>G
NM_007315.4(STAT1):c.1127+13C>T
NM_007315.4(STAT1):c.1127+19G>A rs368077093
NM_007315.4(STAT1):c.1127+19G>T rs368077093
NM_007315.4(STAT1):c.1127+1G>A
NM_007315.4(STAT1):c.1127+3A>G
NM_007315.4(STAT1):c.1128-1G>A
NM_007315.4(STAT1):c.1128-4A>G
NM_007315.4(STAT1):c.1128-8T>C
NM_007315.4(STAT1):c.1128-9A>G
NM_007315.4(STAT1):c.1137G>A (p.Lys379=) rs2125035188
NM_007315.4(STAT1):c.1147T>G (p.Leu383Val)
NM_007315.4(STAT1):c.1151G>A (p.Gly384Asp) rs796065052
NM_007315.4(STAT1):c.1151G>T (p.Gly384Val)
NM_007315.4(STAT1):c.1152C>T (p.Gly384=) rs2125035095
NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) rs587777630
NM_007315.4(STAT1):c.1159A>C (p.Thr387Pro)
NM_007315.4(STAT1):c.1159A>G (p.Thr387Ala)
NM_007315.4(STAT1):c.1162A>C (p.Lys388Gln) rs1559011859
NM_007315.4(STAT1):c.1162A>G (p.Lys388Glu)
NM_007315.4(STAT1):c.1165G>C (p.Val389Leu) rs1574648928
NM_007315.4(STAT1):c.1166T>G (p.Val389Gly) rs1692876152
NM_007315.4(STAT1):c.1168A>G (p.Met390Val) rs1574648919
NM_007315.4(STAT1):c.1169T>C (p.Met390Thr) rs1553494436
NM_007315.4(STAT1):c.1170G>A (p.Met390Ile)
NM_007315.4(STAT1):c.1198C>G (p.Leu400Val)
NM_007315.4(STAT1):c.1202C>A (p.Ala401Glu) rs1692872913
NM_007315.4(STAT1):c.1203G>A (p.Ala401=)
NM_007315.4(STAT1):c.120G>A (p.Lys40=)
NM_007315.4(STAT1):c.1210T>G (p.Phe404Val)
NM_007315.4(STAT1):c.1221+13G>C rs2125034596
NM_007315.4(STAT1):c.1221+18C>T
NM_007315.4(STAT1):c.1221+6G>T rs1692870587
NM_007315.4(STAT1):c.1221+9A>G rs2125034622
NM_007315.4(STAT1):c.1222-13A>G
NM_007315.4(STAT1):c.1222-20G>C rs2125029581
NM_007315.4(STAT1):c.1222-9G>T rs551727276
NM_007315.4(STAT1):c.1224A>G (p.Gln408=)
NM_007315.4(STAT1):c.1231_1232del (p.Glu411fs) rs2125029430
NM_007315.4(STAT1):c.1251C>T (p.Thr417=)
NM_007315.4(STAT1):c.1256C>G (p.Thr419Arg) rs1347113886
NM_007315.4(STAT1):c.1263+11C>T
NM_007315.4(STAT1):c.1263+15_1263+18del rs765648503
NM_007315.4(STAT1):c.1263+4A>G rs1692742284
NM_007315.4(STAT1):c.1264-10C>A
NM_007315.4(STAT1):c.1264-10C>G rs757527885
NM_007315.4(STAT1):c.1264-20_1264-18del
NM_007315.4(STAT1):c.1264-4C>T
NM_007315.4(STAT1):c.1264-5C>A
NM_007315.4(STAT1):c.128+13C>T
NM_007315.4(STAT1):c.128+17A>G rs2125103282
NM_007315.4(STAT1):c.128+20C>T
NM_007315.4(STAT1):c.128+9A>G
NM_007315.4(STAT1):c.1286_1287del (p.Glu429fs)
NM_007315.4(STAT1):c.129-15T>C
NM_007315.4(STAT1):c.129-5C>T
NM_007315.4(STAT1):c.129-5_129-3del rs747088864
NM_007315.4(STAT1):c.1295C>T (p.Ser432Phe)
NM_007315.4(STAT1):c.1297C>G (p.Leu433Val) rs1181214715
NM_007315.4(STAT1):c.1310C>T (p.Thr437Ile) rs1692619276
NM_007315.4(STAT1):c.1311C>T (p.Thr437=) rs1204509101
NM_007315.4(STAT1):c.1320C>T (p.Cys440=)
NM_007315.4(STAT1):c.132G>T (p.Glu44Asp)
NM_007315.4(STAT1):c.1333G>A (p.Val445Ile) rs753695026
NM_007315.4(STAT1):c.1347+15G>T rs1424504598
NM_007315.4(STAT1):c.1347+19C>T
NM_007315.4(STAT1):c.1347+3A>G rs1574645914
NM_007315.4(STAT1):c.1350_1351delinsTT (p.Thr451Ser)
NM_007315.4(STAT1):c.1362C>A (p.Pro454=) rs753907638
NM_007315.4(STAT1):c.1363G>T (p.Val455Phe)
NM_007315.4(STAT1):c.1371G>A (p.Val457=) rs144704615
NM_007315.4(STAT1):c.1371G>C (p.Val457=) rs144704615
NM_007315.4(STAT1):c.1378A>G (p.Asn460Asp)
NM_007315.4(STAT1):c.1380C>T (p.Asn460=)
NM_007315.4(STAT1):c.1386C>A (p.Ser462Arg)
NM_007315.4(STAT1):c.1398C>A (p.Ser466Arg) rs763759889
NM_007315.4(STAT1):c.1398C>G (p.Ser466Arg)
NM_007315.4(STAT1):c.1401T>C (p.Gly467=) rs775003532
NM_007315.4(STAT1):c.1422C>T (p.Tyr474=)
NM_007315.4(STAT1):c.143A>G (p.Asn48Ser)
NM_007315.4(STAT1):c.1446+15T>C rs1692557710
NM_007315.4(STAT1):c.1447-4C>T
NM_007315.4(STAT1):c.1447-6C>T
NM_007315.4(STAT1):c.1469C>T (p.Pro490Leu) rs2125018475
NM_007315.4(STAT1):c.1498G>A (p.Glu500Lys)
NM_007315.4(STAT1):c.1501G>C (p.Val501Leu)
NM_007315.4(STAT1):c.1504C>T (p.Leu502=)
NM_007315.4(STAT1):c.1508G>A (p.Ser503Asn)
NM_007315.4(STAT1):c.1524T>G (p.Ser508=)
NM_007315.4(STAT1):c.1540C>T (p.Leu514Phe) rs2125018329
NM_007315.4(STAT1):c.1582+12T>C rs2125018153
NM_007315.4(STAT1):c.1582+15A>G
NM_007315.4(STAT1):c.1583-16G>A
NM_007315.4(STAT1):c.1583-16G>T rs776782549
NM_007315.4(STAT1):c.1590C>T (p.Asn530=)
NM_007315.4(STAT1):c.1594A>G (p.Ser532Gly) rs2125013089
NM_007315.4(STAT1):c.159C>T (p.Ala53=) rs1694925548
NM_007315.4(STAT1):c.1613C>T (p.Pro538Leu)
NM_007315.4(STAT1):c.1629T>G (p.Cys543Trp) rs1574642464
NM_007315.4(STAT1):c.1632+10G>A
NM_007315.4(STAT1):c.1632+14G>A rs2125012875
NM_007315.4(STAT1):c.1632+15G>T
NM_007315.4(STAT1):c.1632+19T>C
NM_007315.4(STAT1):c.1632+1G>A
NM_007315.4(STAT1):c.1632+6del rs759601214
NM_007315.4(STAT1):c.1633-13dup rs748055688
NM_007315.4(STAT1):c.1643A>G (p.Asn548Ser)
NM_007315.4(STAT1):c.1657C>T (p.Pro553Ser)
NM_007315.4(STAT1):c.1675G>C (p.Glu559Gln) rs1574641583
NM_007315.4(STAT1):c.1684C>T (p.Leu562=)
NM_007315.4(STAT1):c.1687G>C (p.Glu563Gln) rs2125010416
NM_007315.4(STAT1):c.1688A>G (p.Glu563Gly)
NM_007315.4(STAT1):c.1688A>T (p.Glu563Val)
NM_007315.4(STAT1):c.1698A>G (p.Lys566=) rs2125010388
NM_007315.4(STAT1):c.16G>A (p.Glu6Lys)
NM_007315.4(STAT1):c.1727+6G>C
NM_007315.4(STAT1):c.1728-10C>T
NM_007315.4(STAT1):c.1728-15C>T
NM_007315.4(STAT1):c.1728-6A>G
NM_007315.4(STAT1):c.1728-9G>A
NM_007315.4(STAT1):c.1756C>G (p.Arg586Gly)
NM_007315.4(STAT1):c.1757G>A (p.Arg586Gln) rs144788879
NM_007315.4(STAT1):c.1761G>A (p.Glu587=) rs2125007629
NM_007315.4(STAT1):c.1765G>A (p.Ala589Thr) rs745491762
NM_007315.4(STAT1):c.1765G>C (p.Ala589Pro)
NM_007315.4(STAT1):c.1775A>C (p.Lys592Thr)
NM_007315.4(STAT1):c.1787C>T (p.Pro596Leu)
NM_007315.4(STAT1):c.1788G>A (p.Pro596=)
NM_007315.4(STAT1):c.178C>T (p.Leu60Phe) rs2125100882
NM_007315.4(STAT1):c.1791G>C (p.Gly597=)
NM_007315.4(STAT1):c.1794C>T (p.Thr598=)
NM_007315.4(STAT1):c.1797C>T (p.Phe599=)
NM_007315.4(STAT1):c.1798C>T (p.Leu600=)
NM_007315.4(STAT1):c.1822C>T (p.Arg608Trp)
NM_007315.4(STAT1):c.1827A>G (p.Glu609=) rs1013538894
NM_007315.4(STAT1):c.1830G>A (p.Gly610=)
NM_007315.4(STAT1):c.1849G>A (p.Val617Met)
NM_007315.4(STAT1):c.1854G>A (p.Glu618=)
NM_007315.4(STAT1):c.1857G>A (p.Arg619=)
NM_007315.4(STAT1):c.1867G>A (p.Gly623Arg)
NM_007315.4(STAT1):c.1873+7G>A
NM_007315.4(STAT1):c.1874-11C>A
NM_007315.4(STAT1):c.1874-3T>C rs2125000778
NM_007315.4(STAT1):c.1886A>T (p.His629Leu) rs1691957289
NM_007315.4(STAT1):c.188A>G (p.Gln63Arg) rs2125100837
NM_007315.4(STAT1):c.1890G>T (p.Ala630=) rs757407974
NM_007315.4(STAT1):c.1894G>C (p.Glu632Gln)
NM_007315.4(STAT1):c.1905G>A (p.Thr635=)
NM_007315.4(STAT1):c.1911A>G (p.Lys637=) rs759265816
NM_007315.4(STAT1):c.193G>A (p.Asp65Asn) rs1574672739
NM_007315.4(STAT1):c.1942A>G (p.Ile648Val)
NM_007315.4(STAT1):c.1949A>G (p.Asn650Ser) rs776429557
NM_007315.4(STAT1):c.194A>G (p.Asp65Gly)
NM_007315.4(STAT1):c.1965T>G (p.Ala655=)
NM_007315.4(STAT1):c.1974T>G (p.Asn658Lys)
NM_007315.4(STAT1):c.1976T>C (p.Ile659Thr) rs2125000384
NM_007315.4(STAT1):c.1989_1997dup (p.Leu667_Tyr668insLysTyrLeu)
NM_007315.4(STAT1):c.1992G>C (p.Leu664=) rs1691949058
NM_007315.4(STAT1):c.1999_2000del (p.Leu667fs) rs2125000306
NM_007315.4(STAT1):c.2009A>G (p.Asn670Ser) rs2125000268
NM_007315.4(STAT1):c.200A>C (p.Gln67Pro)
NM_007315.4(STAT1):c.200A>G (p.Gln67Arg)
NM_007315.4(STAT1):c.2011A>G (p.Ile671Val)
NM_007315.4(STAT1):c.2016C>A (p.Asp672Glu)
NM_007315.4(STAT1):c.2034A>C (p.Gly678=)
NM_007315.4(STAT1):c.203A>G (p.Tyr68Cys)
NM_007315.4(STAT1):c.2059+18G>A
NM_007315.4(STAT1):c.2059+18G>T rs2124999919
NM_007315.4(STAT1):c.2059+6_2059+7del rs1691942843
NM_007315.4(STAT1):c.2059+8G>A rs2125000014
NM_007315.4(STAT1):c.2059G>C (p.Ala687Pro)
NM_007315.4(STAT1):c.208C>G (p.Arg70Gly)
NM_007315.4(STAT1):c.208C>T (p.Arg70Cys)
NM_007315.4(STAT1):c.2101T>A (p.Tyr701Asn)
NM_007315.4(STAT1):c.2102A>G (p.Tyr701Cys) rs2124996723
NM_007315.4(STAT1):c.2134G>A (p.Val712Ile)
NM_007315.4(STAT1):c.2135+2T>A rs2124996603
NM_007315.4(STAT1):c.2136-15T>C
NM_007315.4(STAT1):c.2136-4T>G
NM_007315.4(STAT1):c.2160A>G (p.Thr720=)
NM_007315.4(STAT1):c.2166C>T (p.Asn722=)
NM_007315.4(STAT1):c.2172C>A (p.Leu724=) rs140108956
NM_007315.4(STAT1):c.2174C>T (p.Pro725Leu) rs1691783002
NM_007315.4(STAT1):c.2175C>G (p.Pro725=)
NM_007315.4(STAT1):c.2193T>C (p.Phe731=) rs1261939030
NM_007315.4(STAT1):c.2201_2208del (p.Val734fs) rs1691780324
NM_007315.4(STAT1):c.2202G>T (p.Val734=)
NM_007315.4(STAT1):c.2217C>T (p.Gly739=)
NM_007315.4(STAT1):c.2230G>A (p.Asp744Asn)
NM_007315.4(STAT1):c.2236A>G (p.Met746Val)
NM_007315.4(STAT1):c.2238+12G>A
NM_007315.4(STAT1):c.2238+18C>A
NM_007315.4(STAT1):c.2238+18C>T rs1369745586
NM_007315.4(STAT1):c.2238+19C>T
NM_007315.4(STAT1):c.2238+6T>C
NM_007315.4(STAT1):c.2238+8C>T rs1220211002
NM_007315.4(STAT1):c.2239-16T>G
NM_007315.4(STAT1):c.2239-18C>T
NM_007315.4(STAT1):c.2239-20C>T
NM_007315.4(STAT1):c.2249_*2del (p.Val750fs)
NM_007315.4(STAT1):c.237A>G (p.Leu79=) rs2125100744
NM_007315.4(STAT1):c.246C>A (p.Asn82Lys) rs1694920831
NM_007315.4(STAT1):c.25C>T (p.Gln9Ter)
NM_007315.4(STAT1):c.273+13T>C
NM_007315.4(STAT1):c.274-12A>C
NM_007315.4(STAT1):c.274-6A>G rs2125097234
NM_007315.4(STAT1):c.274-9C>G
NM_007315.4(STAT1):c.295A>G (p.Ile99Val)
NM_007315.4(STAT1):c.355G>A (p.Ala119Thr)
NM_007315.4(STAT1):c.358C>G (p.Gln120Glu) rs1694803399
NM_007315.4(STAT1):c.372+15T>C
NM_007315.4(STAT1):c.372+18A>G
NM_007315.4(STAT1):c.373-10C>G
NM_007315.4(STAT1):c.373-7A>G
NM_007315.4(STAT1):c.373-8dup rs1559021132
NM_007315.4(STAT1):c.375T>C (p.Ala125=)
NM_007315.4(STAT1):c.389T>C (p.Ile130Thr) rs1694239561
NM_007315.4(STAT1):c.38A>G (p.Lys13Arg)
NM_007315.4(STAT1):c.400G>T (p.Val134Leu)
NM_007315.4(STAT1):c.434A>G (p.Lys145Arg) rs2125079464
NM_007315.4(STAT1):c.435A>G (p.Lys145=) rs2125079456
NM_007315.4(STAT1):c.444T>C (p.Asn148=)
NM_007315.4(STAT1):c.456G>A (p.Lys152=)
NM_007315.4(STAT1):c.462+18A>G
NM_007315.4(STAT1):c.462+8T>C
NM_007315.4(STAT1):c.463-11T>G
NM_007315.4(STAT1):c.463-6T>G
NM_007315.4(STAT1):c.463-6_463-3del rs773775483
NM_007315.4(STAT1):c.463-9T>G
NM_007315.4(STAT1):c.463T>C (p.Cys155Arg)
NM_007315.4(STAT1):c.467T>C (p.Ile156Thr)
NM_007315.4(STAT1):c.489_497del (p.Glu164_Leu166del) rs2125075101
NM_007315.4(STAT1):c.493G>C (p.Asp165His) rs387906767
NM_007315.4(STAT1):c.494A>G (p.Asp165Gly) rs387906764
NM_007315.4(STAT1):c.496_504del (p.Leu166_Asp168del) rs2125075085
NM_007315.4(STAT1):c.500A>C (p.Gln167Pro)
NM_007315.4(STAT1):c.501A>C (p.Gln167His)
NM_007315.4(STAT1):c.504T>C (p.Asp168=) rs2125075069
NM_007315.4(STAT1):c.506A>T (p.Glu169Val)
NM_007315.4(STAT1):c.508T>A (p.Tyr170Asn) rs387906766
NM_007315.4(STAT1):c.511G>A (p.Asp171Asn) rs2125075054
NM_007315.4(STAT1):c.511G>C (p.Asp171His)
NM_007315.4(STAT1):c.516C>G (p.Phe172Leu)
NM_007315.4(STAT1):c.51G>A (p.Gln17=) rs1574673866
NM_007315.4(STAT1):c.520T>C (p.Cys174Arg) rs387906763
NM_007315.4(STAT1):c.533A>G (p.Gln178Arg) rs2125074995
NM_007315.4(STAT1):c.536_538del (p.Asn179del) rs2125074976
NM_007315.4(STAT1):c.537C>A (p.Asn179Lys) rs587777628
NM_007315.4(STAT1):c.541+12C>A
NM_007315.4(STAT1):c.595C>T (p.Leu199Phe) rs1693998248
NM_007315.4(STAT1):c.596T>C (p.Leu199Pro) rs1693998068
NM_007315.4(STAT1):c.604A>G (p.Met202Val) rs387906762
NM_007315.4(STAT1):c.606G>A (p.Met202Ile) rs1559019204
NM_007315.4(STAT1):c.623A>G (p.Asn208Ser) rs1693996687
NM_007315.4(STAT1):c.629G>A (p.Arg210Lys) rs1693996119
NM_007315.4(STAT1):c.633+17C>T
NM_007315.4(STAT1):c.633+19G>A
NM_007315.4(STAT1):c.634-20G>A
NM_007315.4(STAT1):c.634-24_634-18del
NM_007315.4(STAT1):c.634G>C (p.Glu212Gln)
NM_007315.4(STAT1):c.661C>T (p.Leu221=)
NM_007315.4(STAT1):c.68A>T (p.Asp23Val) rs1694998227
NM_007315.4(STAT1):c.693G>T (p.Leu231=) rs2125069950
NM_007315.4(STAT1):c.71_74dup (p.Ser25fs) rs1382612689
NM_007315.4(STAT1):c.720G>A (p.Lys240=) rs2125069889
NM_007315.4(STAT1):c.736G>A (p.Ala246Thr)
NM_007315.4(STAT1):c.744T>C (p.Ile248=)
NM_007315.4(STAT1):c.753G>A (p.Pro251=)
NM_007315.4(STAT1):c.758A>G (p.Asn253Ser)
NM_007315.4(STAT1):c.771T>C (p.Asp257=)
NM_007315.4(STAT1):c.773A>T (p.Gln258Leu)
NM_007315.4(STAT1):c.776T>C (p.Leu259Pro) rs2125069735
NM_007315.4(STAT1):c.786-12G>A rs562518878
NM_007315.4(STAT1):c.786-12G>C rs562518878
NM_007315.4(STAT1):c.786-13T>G rs747597448
NM_007315.4(STAT1):c.786-20T>C
NM_007315.4(STAT1):c.786G>T (p.Trp262Cys)
NM_007315.4(STAT1):c.792T>C (p.Thr264=)
NM_007315.4(STAT1):c.800C>T (p.Ala267Val) rs387906759
NM_007315.4(STAT1):c.801G>C (p.Ala267=) rs146141778
NM_007315.4(STAT1):c.802G>T (p.Glu268Ter) rs2125062900
NM_007315.4(STAT1):c.804G>A (p.Glu268=)
NM_007315.4(STAT1):c.810G>T (p.Leu270=)
NM_007315.4(STAT1):c.812A>C (p.Gln271Pro) rs387906768
NM_007315.4(STAT1):c.820C>G (p.Arg274Gly) rs387906758
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp) rs387906758
NM_007315.4(STAT1):c.821G>A (p.Arg274Gln) rs387906760
NM_007315.4(STAT1):c.832A>G (p.Lys278Glu) rs863223398
NM_007315.4(STAT1):c.837G>A (p.Lys279=)
NM_007315.4(STAT1):c.850G>A (p.Glu284Lys) rs1574657750
NM_007315.4(STAT1):c.851A>G (p.Glu284Gly) rs1693752801
NM_007315.4(STAT1):c.854A>G (p.Gln285Arg) rs587777629
NM_007315.4(STAT1):c.855G>A (p.Gln285=)
NM_007315.4(STAT1):c.856A>C (p.Lys286Gln) rs1693752377
NM_007315.4(STAT1):c.856A>G (p.Lys286Glu) rs1693752377
NM_007315.4(STAT1):c.857A>T (p.Lys286Ile) rs387906761
NM_007315.4(STAT1):c.861C>G (p.Tyr287Ter)
NM_007315.4(STAT1):c.862A>G (p.Thr288Ala) rs387906765
NM_007315.4(STAT1):c.863C>T (p.Thr288Ile) rs1693751220
NM_007315.4(STAT1):c.864C>G (p.Thr288=)
NM_007315.4(STAT1):c.865T>C (p.Tyr289His)
NM_007315.4(STAT1):c.866A>G (p.Tyr289Cys) rs1553496850
NM_007315.4(STAT1):c.867C>T (p.Tyr289=)
NM_007315.4(STAT1):c.868G>A (p.Glu290Lys)
NM_007315.4(STAT1):c.871C>T (p.His291Tyr) rs2125062260
NM_007315.4(STAT1):c.876C>A (p.Asp292Glu) rs1085307649
NM_007315.4(STAT1):c.877C>A (p.Pro293Thr)
NM_007315.4(STAT1):c.877C>G (p.Pro293Ala) rs2125062189
NM_007315.4(STAT1):c.877_891del (p.Pro293_Asn297del) rs1693749076
NM_007315.4(STAT1):c.878C>T (p.Pro293Leu)
NM_007315.4(STAT1):c.88A>G (p.Ile30Val)
NM_007315.4(STAT1):c.913A>T (p.Thr305Ser)
NM_007315.4(STAT1):c.934C>T (p.Leu312Phe) rs1574657656
NM_007315.4(STAT1):c.937A>G (p.Ile313Val)
NM_007315.4(STAT1):c.944+11G>T
NM_007315.4(STAT1):c.944+7C>T rs1179398077
NM_007315.4(STAT1):c.944+9A>G
NM_007315.4(STAT1):c.945-10G>A
NM_007315.4(STAT1):c.945-11G>T rs752496029
NM_007315.4(STAT1):c.945-15G>C
NM_007315.4(STAT1):c.945-17T>C rs2125048450
NM_007315.4(STAT1):c.945-5T>G rs1574653475
NM_007315.4(STAT1):c.955G>A (p.Val319Met) rs1693315914
NM_007315.4(STAT1):c.961A>G (p.Arg321Gly)
NM_007315.4(STAT1):c.969C>T (p.Pro323=)
NM_007315.4(STAT1):c.970T>C (p.Cys324Arg) rs1574653439
NM_007315.4(STAT1):c.974T>A (p.Met325Lys)
NM_007315.4(STAT1):c.976C>T (p.Pro326Ser) rs1693314120
NM_007315.4(STAT1):c.989A>G (p.Gln330Arg) rs1693312947
NM_007315.4(STAT1):c.996G>A (p.Pro332=)
NM_007365.3(PADI2):c.*258A>T rs2235926
NM_012387.3(PADI4):c.335G>C (p.Gly112Ala) rs874881
NM_014009.4(FOXP3):c.*878A>G rs2066021673
NM_014009.4(FOXP3):c.-23+1G>T rs1602693008
NM_014009.4(FOXP3):c.-23+3G>A
NM_014009.4(FOXP3):c.-23+4A>G rs1216773491
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949
NM_014009.4(FOXP3):c.1015C>G (p.Pro339Ala) rs886044787
NM_014009.4(FOXP3):c.1020C>G (p.Phe340Leu)
NM_014009.4(FOXP3):c.1026C>T (p.Tyr342=)
NM_014009.4(FOXP3):c.1027G>A (p.Ala343Thr) rs782649847
NM_014009.4(FOXP3):c.102C>A (p.Asp34Glu) rs2066088699
NM_014009.4(FOXP3):c.1031C>A (p.Thr344Lys) rs782539207
NM_014009.4(FOXP3):c.1031C>T (p.Thr344Met)
NM_014009.4(FOXP3):c.1036A>G (p.Ile346Val) rs1557115789
NM_014009.4(FOXP3):c.1040G>A (p.Arg347His) rs1557115786
NM_014009.4(FOXP3):c.1044+16C>T
NM_014009.4(FOXP3):c.1044G>T (p.Trp348Cys) rs2066044558
NM_014009.4(FOXP3):c.1045-11C>G rs74162068
NM_014009.4(FOXP3):c.1045-11C>T rs74162068
NM_014009.4(FOXP3):c.1045-14C>T
NM_014009.4(FOXP3):c.1045-15C>A
NM_014009.4(FOXP3):c.1045-15_1045-9del rs1428795908
NM_014009.4(FOXP3):c.1045-17C>T rs2147944472
NM_014009.4(FOXP3):c.1045-6T>C
NM_014009.4(FOXP3):c.1080C>G (p.Leu360=) rs2147944398
NM_014009.4(FOXP3):c.1087A>G (p.Ile363Val) rs2147944391
NM_014009.4(FOXP3):c.1091A>G (p.Tyr364Cys)
NM_014009.4(FOXP3):c.1099T>C (p.Phe367Leu) rs122467175
NM_014009.4(FOXP3):c.1110G>A (p.Met370Ile)
NM_014009.4(FOXP3):c.1112T>G (p.Phe371Cys) rs122467169
NM_014009.4(FOXP3):c.1117_1118delinsGC (p.Phe373Ala) rs122467172
NM_014009.4(FOXP3):c.1119C>T (p.Phe373=)
NM_014009.4(FOXP3):c.1129C>G (p.His377Asp) rs1557115591
NM_014009.4(FOXP3):c.1146+16G>C
NM_014009.4(FOXP3):c.1146+8C>T
NM_014009.4(FOXP3):c.1147-12G>A rs370285865
NM_014009.4(FOXP3):c.1147-12G>C
NM_014009.4(FOXP3):c.1150G>A (p.Ala384Thr) rs122467170
NM_014009.4(FOXP3):c.1151C>T (p.Ala384Val) rs2147944159
NM_014009.4(FOXP3):c.1190G>A (p.Arg397Gln) rs1057520529
NM_014009.4(FOXP3):c.1191G>T (p.Arg397=)
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met) rs1557115532
NM_014009.4(FOXP3):c.1227T>C (p.Asp409=)
NM_014009.4(FOXP3):c.1234del (p.Glu412fs) rs2147944106
NM_014009.4(FOXP3):c.1247A>T (p.Lys416Ile) rs1569529568
NM_014009.4(FOXP3):c.1248A>T (p.Lys416Asn) rs2066029945
NM_014009.4(FOXP3):c.1249C>T (p.Arg417Trp)
NM_014009.4(FOXP3):c.1250G>A (p.Arg417Gln)
NM_014009.4(FOXP3):c.1252A>G (p.Ser418Gly)
NM_014009.4(FOXP3):c.1253G>A (p.Ser418Asn) rs1317916668
NM_014009.4(FOXP3):c.1253G>C (p.Ser418Thr)
NM_014009.4(FOXP3):c.1257G>C (p.Gln419His) rs2066029760
NM_014009.4(FOXP3):c.1270_1272delinsC (p.Cys424fs) rs1569529565
NM_014009.4(FOXP3):c.1271G>A (p.Cys424Tyr)
NM_014009.4(FOXP3):c.1277A>G (p.Asn426Ser)
NM_014009.4(FOXP3):c.1280C>G (p.Pro427Arg) rs2066029479
NM_014009.4(FOXP3):c.1285C>T (p.Pro429Ser)
NM_014009.4(FOXP3):c.1290_*12delinsTG (p.Pro431fs) rs2147944039
NM_014009.4(FOXP3):c.1293_1294del (p.Ter432ThrextTer?) rs1602679037
NM_014009.4(FOXP3):c.129A>G (p.Gly43=) rs1602687640
NM_014009.4(FOXP3):c.131C>G (p.Thr44Ser)
NM_014009.4(FOXP3):c.142C>T (p.Arg48Ter) rs2066088072
NM_014009.4(FOXP3):c.14G>T (p.Arg5Met) rs2147949758
NM_014009.4(FOXP3):c.162C>T (p.Ala54=)
NM_014009.4(FOXP3):c.166G>A (p.Ala56Thr)
NM_014009.4(FOXP3):c.168CTC[1] (p.Ser60del) rs781861708
NM_014009.4(FOXP3):c.174T>C (p.Ser58=)
NM_014009.4(FOXP3):c.188C>T (p.Pro63Leu)
NM_014009.4(FOXP3):c.195A>T (p.Pro65=)
NM_014009.4(FOXP3):c.205C>G (p.Leu69Val)
NM_014009.4(FOXP3):c.210+1G>A rs886041596
NM_014009.4(FOXP3):c.210+1G>T rs886041596
NM_014009.4(FOXP3):c.210+5G>A
NM_014009.4(FOXP3):c.211-17C>A rs2147949241
NM_014009.4(FOXP3):c.211C>G (p.Leu71Val)
NM_014009.4(FOXP3):c.223C>T (p.Pro75Ser)
NM_014009.4(FOXP3):c.224C>T (p.Pro75Leu) rs2147949202
NM_014009.4(FOXP3):c.226C>G (p.Leu76Val)
NM_014009.4(FOXP3):c.227del (p.Leu76fs) rs2147949186
NM_014009.4(FOXP3):c.229G>C (p.Val77Leu)
NM_014009.4(FOXP3):c.241C>T (p.Pro81Ser)
NM_014009.4(FOXP3):c.248G>A (p.Gly83Glu)
NM_014009.4(FOXP3):c.288C>A (p.Leu96=) rs942280481
NM_014009.4(FOXP3):c.292G>A (p.Asp98Asn) rs2147949106
NM_014009.4(FOXP3):c.2T>A (p.Met1Lys) rs2147949777
NM_014009.4(FOXP3):c.315+1G>A
NM_014009.4(FOXP3):c.315+2T>A rs2147949090
NM_014009.4(FOXP3):c.315+9G>A
NM_014009.4(FOXP3):c.316-13A>G rs2066082389
NM_014009.4(FOXP3):c.316-3del rs782086170
NM_014009.4(FOXP3):c.316-4C>T rs977920377
NM_014009.4(FOXP3):c.318C>T (p.Leu106=)
NM_014009.4(FOXP3):c.336C>T (p.His112=) rs143632471
NM_014009.4(FOXP3):c.337G>A (p.Ala113Thr) rs1398753395
NM_014009.4(FOXP3):c.337G>T (p.Ala113Ser) rs1398753395
NM_014009.4(FOXP3):c.341G>A (p.Arg114Gln)
NM_014009.4(FOXP3):c.372G>A (p.Glu124=)
NM_014009.4(FOXP3):c.374G>A (p.Ser125Asn)
NM_014009.4(FOXP3):c.3G>A (p.Met1Ile) rs122467174
NM_014009.4(FOXP3):c.407C>T (p.Thr136Ile)
NM_014009.4(FOXP3):c.408C>T (p.Thr136=) rs782613398
NM_014009.4(FOXP3):c.409G>A (p.Ala137Thr) rs1057524899
NM_014009.4(FOXP3):c.418G>C (p.Val140Leu)
NM_014009.4(FOXP3):c.420C>G (p.Val140=)
NM_014009.4(FOXP3):c.430A>G (p.Lys144Glu) rs1557116530
NM_014009.4(FOXP3):c.434C>T (p.Ala145Val) rs782528935
NM_014009.4(FOXP3):c.444C>T (p.Gly148=)
NM_014009.4(FOXP3):c.451C>T (p.Pro151Ser) rs1557116520
NM_014009.4(FOXP3):c.454+4A>G rs2147948858
NM_014009.4(FOXP3):c.455-14G>A rs914653327
NM_014009.4(FOXP3):c.455-19G>A
NM_014009.4(FOXP3):c.473T>A (p.Leu158Gln)
NM_014009.4(FOXP3):c.482T>C (p.Val161Ala)
NM_014009.4(FOXP3):c.486C>T (p.Ser162=) rs1557116474
NM_014009.4(FOXP3):c.492G>A (p.Glu164=) rs2147948631
NM_014009.4(FOXP3):c.492G>C (p.Glu164Asp) rs2147948631
NM_014009.4(FOXP3):c.494C>T (p.Pro165Leu) rs1279942582
NM_014009.4(FOXP3):c.499C>A (p.Leu167Met)
NM_014009.4(FOXP3):c.506G>A (p.Cys169Tyr) rs1284218417
NM_014009.4(FOXP3):c.521C>G (p.Pro174Arg)
NM_014009.4(FOXP3):c.524G>A (p.Ser175Asn)
NM_014009.4(FOXP3):c.542+2T>G
NM_014009.4(FOXP3):c.542+6T>C
NM_014009.4(FOXP3):c.542+8G>A
NM_014009.4(FOXP3):c.542G>T (p.Ser181Ile) rs1602686006
NM_014009.4(FOXP3):c.543-16C>T
NM_014009.4(FOXP3):c.543-2A>G
NM_014009.4(FOXP3):c.543-3C>T rs1557116438
NM_014009.4(FOXP3):c.543-3dup
NM_014009.4(FOXP3):c.543-4C>T rs782430715
NM_014009.4(FOXP3):c.543-5C>T
NM_014009.4(FOXP3):c.552G>T (p.Ser184=) rs782085584
NM_014009.4(FOXP3):c.575C>T (p.Pro192Leu)
NM_014009.4(FOXP3):c.59C>T (p.Pro20Leu) rs2066089076
NM_014009.4(FOXP3):c.606C>T (p.Pro202=)
NM_014009.4(FOXP3):c.607G>A (p.Gly203Arg)
NM_014009.4(FOXP3):c.616_618del (p.Lys206del) rs2066076242
NM_014009.4(FOXP3):c.619G>A (p.Val207Ile)
NM_014009.4(FOXP3):c.61G>C (p.Gly21Arg)
NM_014009.4(FOXP3):c.631C>T (p.Pro211Ser) rs374109896
NM_014009.4(FOXP3):c.637G>T (p.Asp213Tyr) rs2147948474
NM_014009.4(FOXP3):c.647+11del rs2066075881
NM_014009.4(FOXP3):c.648-3T>C
NM_014009.4(FOXP3):c.650A>G (p.His217Arg) rs1045776635
NM_014009.4(FOXP3):c.659C>A (p.Ala220Glu)
NM_014009.4(FOXP3):c.660G>A (p.Ala220=)
NM_014009.4(FOXP3):c.680A>C (p.Lys227Thr) rs2147947523
NM_014009.4(FOXP3):c.694T>G (p.Cys232Gly) rs1569529715
NM_014009.4(FOXP3):c.702C>T (p.Leu234=) rs2066065548
NM_014009.4(FOXP3):c.716T>C (p.Val239Ala)
NM_014009.4(FOXP3):c.727G>A (p.Glu243Lys)
NM_014009.4(FOXP3):c.727del (p.Glu243fs) rs797045588
NM_014009.4(FOXP3):c.733C>G (p.Gln245Glu) rs2147947487
NM_014009.4(FOXP3):c.735+13C>T
NM_014009.4(FOXP3):c.735+17G>A
NM_014009.4(FOXP3):c.736-1G>A rs1602684221
NM_014009.4(FOXP3):c.736-2A>T rs2147947315
NM_014009.4(FOXP3):c.736_737inv (p.Leu246Arg)
NM_014009.4(FOXP3):c.748_750del (p.Lys250del) rs1557116163
NM_014009.4(FOXP3):c.751_753del (p.Glu251del) rs122467171
NM_014009.4(FOXP3):c.754A>G (p.Lys252Glu) rs2147947305
NM_014009.4(FOXP3):c.761G>A (p.Ser254Asn)
NM_014009.4(FOXP3):c.762T>C (p.Ser254=)
NM_014009.4(FOXP3):c.786G>A (p.Gly262=)
NM_014009.4(FOXP3):c.799A>C (p.Thr267Pro)
NM_014009.4(FOXP3):c.80G>A (p.Arg27Lys) rs2147949688
NM_014009.4(FOXP3):c.811T>C (p.Ser271Pro)
NM_014009.4(FOXP3):c.816G>A (p.Val272=)
NM_014009.4(FOXP3):c.817-10C>G
NM_014009.4(FOXP3):c.817-11C>T
NM_014009.4(FOXP3):c.817-5C>T rs1602682433
NM_014009.4(FOXP3):c.826G>A (p.Asp276Asn)
NM_014009.4(FOXP3):c.847G>T (p.Val283Leu)
NM_014009.4(FOXP3):c.84T>C (p.Ala28=)
NM_014009.4(FOXP3):c.851C>T (p.Ala284Val)
NM_014009.4(FOXP3):c.869C>T (p.Pro290Leu)
NM_014009.4(FOXP3):c.883T>C (p.Trp295Arg)
NM_014009.4(FOXP3):c.890G>C (p.Gly297Ala) rs2066051349
NM_014009.4(FOXP3):c.898G>A (p.Glu300Lys) rs2147946014
NM_014009.4(FOXP3):c.912C>T (p.Ser304=) rs2147946006
NM_014009.4(FOXP3):c.928A>G (p.Arg310Gly) rs782635427
NM_014009.4(FOXP3):c.938G>T (p.Trp313Leu)
NM_014009.4(FOXP3):c.940G>A (p.Gly314Ser)
NM_014009.4(FOXP3):c.941G>A (p.Gly314Asp)
NM_014009.4(FOXP3):c.94G>T (p.Ala32Ser)
NM_014009.4(FOXP3):c.954C>T (p.Asn318=)
NM_014009.4(FOXP3):c.95C>T (p.Ala32Val)
NM_014009.4(FOXP3):c.963C>G (p.Phe321Leu) rs143869281
NM_014009.4(FOXP3):c.967+3A>T rs2066050512
NM_014009.4(FOXP3):c.967+4A>G rs1426535368
NM_014009.4(FOXP3):c.967G>A (p.Glu323Lys) rs2066050534
NM_014009.4(FOXP3):c.968-12A>G
NM_014009.4(FOXP3):c.968-13del
NM_014009.4(FOXP3):c.968-17T>A
NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu) rs122467173
NM_014009.4(FOXP3):c.970T>G (p.Phe324Val) rs122467173
NM_014009.4(FOXP3):c.981C>T (p.Asn327=)
NM_014009.4(FOXP3):c.992T>C (p.Phe331Ser)
NM_014009.4(FOXP3):c.998T>A (p.Phe333Tyr) rs2147945481
NM_014009.4(FOXP3):c.9C>G (p.Asn3Lys)
NM_014727.3(KMT2B):c.1108_1109del (p.Glu370fs) rs1599669544
NM_015474.4(SAMHD1):c.1037A>C (p.Glu346Ala) rs886056648
NM_015474.4(SAMHD1):c.1271-5G>A rs2063399774
NM_015474.4(SAMHD1):c.1410+12G>T rs2063398513
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs) rs768409471
NM_015474.4(SAMHD1):c.1735A>G (p.Thr579Ala) rs886056647
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=) rs769968442
NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly) rs778647626
NM_015474.4(SAMHD1):c.67T>A (p.Ser23Thr) rs886056649
NM_015474.4(SAMHD1):c.933C>T (p.Asp311=) rs2063480136
NM_015967.8(PTPN22):c.1894+2T>C
NM_016562.4(TLR7):c.1521T>G (p.Phe507Leu) rs2147245859
NM_016562.4(TLR7):c.790T>C (p.Tyr264His) rs2147245558
NM_016562.4(TLR7):c.82A>G (p.Arg28Gly) rs2147245261
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_030662.4(MAP2K2):c.383C>T (p.Pro128Leu) rs267607230
NM_031157.4(HNRNPA1):c.1006A>G (p.Arg336Gly) rs483353032
NM_031157.4(HNRNPA1):c.1009A>G (p.Ser337Gly) rs483353033
NM_031157.4(HNRNPA1):c.1040A>G (p.Tyr347Cys) rs483353034
NM_031157.4(HNRNPA1):c.1042T>C (p.Phe348Leu) rs483353035
NM_031157.4(HNRNPA1):c.1052C>T (p.Pro351Leu) rs483353036
NM_031157.4(HNRNPA1):c.1054C>T (p.Arg352Ter) rs483353037
NM_031157.4(HNRNPA1):c.1057A>G (p.Asn353Asp) rs483353039
NM_031157.4(HNRNPA1):c.1058A>G (p.Asn353Ser) rs483353038
NM_031157.4(HNRNPA1):c.1078T>G (p.Ser360Ala) rs483353040
NM_031157.4(HNRNPA1):c.1093A>G (p.Ser365Gly) rs483353026
NM_031157.4(HNRNPA1):c.1096T>C (p.Tyr366His) rs483353027
NM_031157.4(HNRNPA1):c.1097A>G (p.Tyr366Cys) rs483353041
NM_031157.4(HNRNPA1):c.1106G>A (p.Gly369Asp) rs483353042
NM_031157.4(HNRNPA1):c.1111A>G (p.Arg371Gly) rs3206707
NM_031157.4(HNRNPA1):c.1114T>C (p.Phe372Leu) rs483353043
NM_031157.4(HNRNPA1):c.931A>G (p.Ser311Gly) rs483353021
NM_031157.4(HNRNPA1):c.943T>C (p.Phe315Leu) rs483353022
NM_031157.4(HNRNPA1):c.973T>C (p.Phe325Leu) rs483353028
NM_031157.4(HNRNPA1):c.973T>G (p.Phe325Val) rs483353028
NM_031157.4(HNRNPA1):c.979C>T (p.Pro327Ser) rs483353029
NM_031157.4(HNRNPA1):c.982A>C (p.Met328Leu) rs483353024
NM_031157.4(HNRNPA1):c.987G>T (p.Lys329Asn) rs483353030
NM_031157.4(HNRNPA1):c.995A>G (p.Asn332Ser) rs3207617
NM_031157.4(HNRNPA1):c.997T>C (p.Phe333Leu) rs483353031
NM_032977.3(CASP10):c.-285C>T rs530526445
NM_032977.3(CASP10):c.-314G>A rs1284865224
NM_032977.4(CASP10):c.*1022C>T rs1323062174
NM_032977.4(CASP10):c.*1125T>C rs886055413
NM_032977.4(CASP10):c.*116C>A rs912143180
NM_032977.4(CASP10):c.*1258G>T rs1945653563
NM_032977.4(CASP10):c.*1520C>T rs41331447
NM_032977.4(CASP10):c.*1542A>T rs41484449
NM_032977.4(CASP10):c.*1909A>G rs886055417
NM_032977.4(CASP10):c.*1982del rs111572089
NM_032977.4(CASP10):c.*2177del rs528903184
NM_032977.4(CASP10):c.*2295T>A rs886055420
NM_032977.4(CASP10):c.*2381G>C rs1945684785
NM_032977.4(CASP10):c.*2425C>G rs886055421
NM_032977.4(CASP10):c.*2594del rs41351949
NM_032977.4(CASP10):c.*2600G>T rs886055423
NM_032977.4(CASP10):c.*2741C>G rs1481895284
NM_032977.4(CASP10):c.*2869A>C rs886055425
NM_032977.4(CASP10):c.*2927_*2928del rs886055426
NM_032977.4(CASP10):c.*2979C>T rs886055427
NM_032977.4(CASP10):c.*2986C>T rs886055428
NM_032977.4(CASP10):c.*3510G>A rs1945713262
NM_032977.4(CASP10):c.*3591A>G rs1297066259
NM_032977.4(CASP10):c.*607G>A rs1326674355
NM_032977.4(CASP10):c.*632G>A rs1945638403
NM_032977.4(CASP10):c.*741del rs41506545
NM_032977.4(CASP10):c.*911T>G rs1945646004
NM_032977.4(CASP10):c.1015C>G (p.Gln339Glu) rs111775921
NM_032977.4(CASP10):c.1022G>A (p.Cys341Tyr)
NM_032977.4(CASP10):c.1025A>G (p.Asn342Ser) rs1945312624
NM_032977.4(CASP10):c.1031C>T (p.Ala344Val) rs1945312703
NM_032977.4(CASP10):c.1039G>A (p.Asp347Asn)
NM_032977.4(CASP10):c.103G>A (p.Asp35Asn)
NM_032977.4(CASP10):c.1068G>A (p.Leu356=) rs111489269
NM_032977.4(CASP10):c.1068G>C (p.Leu356=)
NM_032977.4(CASP10):c.1086A>G (p.Gly362=)
NM_032977.4(CASP10):c.1089T>C (p.Ala363=)
NM_032977.4(CASP10):c.1094A>C (p.Tyr365Ser)
NM_032977.4(CASP10):c.1101G>A (p.Ser367=) rs1300529029
NM_032977.4(CASP10):c.1121T>A (p.Ile374Asn) rs2126047984
NM_032977.4(CASP10):c.1124G>A (p.Arg375Gln) rs375798142
NM_032977.4(CASP10):c.1133T>C (p.Met378Thr)
NM_032977.4(CASP10):c.1139A>G (p.His380Arg)
NM_032977.4(CASP10):c.1148C>A (p.Ala383Asp) rs1181337952
NM_032977.4(CASP10):c.1153C>T (p.Gln385Ter) rs2126048039
NM_032977.4(CASP10):c.1161T>C (p.Pro387=)
NM_032977.4(CASP10):c.117C>T (p.Leu39=) rs1576060227
NM_032977.4(CASP10):c.1182A>G (p.Lys394=) rs1576127112
NM_032977.4(CASP10):c.1198G>A (p.Ala400Thr)
NM_032977.4(CASP10):c.1198G>C (p.Ala400Pro) rs762404236
NM_032977.4(CASP10):c.1199C>T (p.Ala400Val)
NM_032977.4(CASP10):c.1207G>C (p.Gly403Arg) rs916343393
NM_032977.4(CASP10):c.1216A>C (p.Ile406Leu) rs80358239
NM_032977.4(CASP10):c.1223C>T (p.Pro408Leu)
NM_032977.4(CASP10):c.1226C>A (p.Ser409Tyr) rs1409279830
NM_032977.4(CASP10):c.1226C>T (p.Ser409Phe)
NM_032977.4(CASP10):c.1236C>T (p.Ile412=)
NM_032977.4(CASP10):c.1249C>T (p.Leu417=) rs2126048239
NM_032977.4(CASP10):c.1254C>T (p.Asn418=)
NM_032977.4(CASP10):c.126C>T (p.Leu42=) rs146684884
NM_032977.4(CASP10):c.1271C>T (p.Thr424Ile) rs1559309649
NM_032977.4(CASP10):c.1276C>T (p.Leu426=) rs778094540
NM_032977.4(CASP10):c.1280A>G (p.Gln427Arg)
NM_032977.4(CASP10):c.1282G>C (p.Asp428His) rs1945323616
NM_032977.4(CASP10):c.1285A>G (p.Ser429Gly) rs1945323812
NM_032977.4(CASP10):c.1309C>T (p.Leu437=)
NM_032977.4(CASP10):c.130A>T (p.Ile44Leu) rs766784091
NM_032977.4(CASP10):c.1316G>T (p.Gly439Val) rs764646945
NM_032977.4(CASP10):c.1321G>A (p.Ala441Thr) rs760580885
NM_032977.4(CASP10):c.1326T>C (p.Thr442=) rs2126048396
NM_032977.4(CASP10):c.1342T>A (p.Ser448Thr)
NM_032977.4(CASP10):c.1348C>A (p.Arg450=)
NM_032977.4(CASP10):c.1349G>A (p.Arg450Gln)
NM_032977.4(CASP10):c.134G>A (p.Gly45Glu)
NM_032977.4(CASP10):c.1355T>C (p.Val452Ala) rs757598550
NM_032977.4(CASP10):c.1359G>A (p.Glu453=)
NM_032977.4(CASP10):c.136T>G (p.Leu46Val) rs1047225163
NM_032977.4(CASP10):c.1376T>G (p.Ile459Ser)
NM_032977.4(CASP10):c.1387T>A (p.Cys463Ser)
NM_032977.4(CASP10):c.13G>A (p.Gly5Ser)
NM_032977.4(CASP10):c.1402A>G (p.Lys468Glu)
NM_032977.4(CASP10):c.1405T>C (p.Leu469=)
NM_032977.4(CASP10):c.1409T>C (p.Val470Ala)
NM_032977.4(CASP10):c.1415+18del
NM_032977.4(CASP10):c.1415+18dup rs749295497
NM_032977.4(CASP10):c.1416-12del rs776992048
NM_032977.4(CASP10):c.1416-13T>A rs765334702
NM_032977.4(CASP10):c.1416-3C>A rs1945611761
NM_032977.4(CASP10):c.1416-4G>A
NM_032977.4(CASP10):c.1418A>G (p.His473Arg) rs538186121
NM_032977.4(CASP10):c.1422A>G (p.Glu474=)
NM_032977.4(CASP10):c.1438C>T (p.Leu480Phe)
NM_032977.4(CASP10):c.144C>T (p.Pro48=) rs751018783
NM_032977.4(CASP10):c.1455T>C (p.Asp485=)
NM_032977.4(CASP10):c.1457A>T (p.Asp486Val) rs2126062063
NM_032977.4(CASP10):c.1460T>G (p.Val487Gly) rs1559314420
NM_032977.4(CASP10):c.1462A>G (p.Ser488Gly)
NM_032977.4(CASP10):c.1465C>T (p.Arg489Ter) rs746530401
NM_032977.4(CASP10):c.1473G>A (p.Val491=) rs2126062098
NM_032977.4(CASP10):c.1501C>A (p.Pro501Thr)
NM_032977.4(CASP10):c.1504del (p.Gln502fs) rs2126062115
NM_032977.4(CASP10):c.1519C>T (p.Leu507=)
NM_032977.4(CASP10):c.1530del (p.Lys510fs)
NM_032977.4(CASP10):c.153G>A (p.Lys51=)
NM_032977.4(CASP10):c.1546C>G (p.Pro516Ala)
NM_032977.4(CASP10):c.1551G>A (p.Leu517=)
NM_032977.4(CASP10):c.1557A>G (p.Ala519=)
NM_032977.4(CASP10):c.174C>A (p.Ala58=) rs114625983
NM_032977.4(CASP10):c.174C>T (p.Ala58=) rs114625983
NM_032977.4(CASP10):c.176_177delinsGG (p.Ser59Trp) rs1559292275
NM_032977.4(CASP10):c.199G>T (p.Ala67Ser) rs773537509
NM_032977.4(CASP10):c.211C>T (p.Leu71=)
NM_032977.4(CASP10):c.215G>C (p.Ser72Thr) rs2126005258
NM_032977.4(CASP10):c.225C>T (p.Asp75=)
NM_032977.4(CASP10):c.244CTC[1] (p.Leu83del) rs749820662
NM_032977.4(CASP10):c.247C>G (p.Leu83Val) rs759913674
NM_032977.4(CASP10):c.247C>T (p.Leu83Phe)
NM_032977.4(CASP10):c.248T>C (p.Leu83Pro)
NM_032977.4(CASP10):c.249C>T (p.Leu83=)
NM_032977.4(CASP10):c.250T>C (p.Tyr84His) rs2126005350
NM_032977.4(CASP10):c.251A>G (p.Tyr84Cys)
NM_032977.4(CASP10):c.260G>A (p.Arg87Gln)
NM_032977.4(CASP10):c.270G>A (p.Lys90=)
NM_032977.4(CASP10):c.278A>C (p.Gln93Pro)
NM_032977.4(CASP10):c.284T>C (p.Leu95Pro) rs1944405008
NM_032977.4(CASP10):c.295A>G (p.Lys99Glu) rs531649047
NM_032977.4(CASP10):c.29C>G (p.Ser10Cys) rs1188335683
NM_032977.4(CASP10):c.303A>T (p.Glu101Asp)
NM_032977.4(CASP10):c.309G>A (p.Glu103=)
NM_032977.4(CASP10):c.314T>A (p.Leu105Gln)
NM_032977.4(CASP10):c.326G>C (p.Arg109Pro)
NM_032977.4(CASP10):c.347+11G>A
NM_032977.4(CASP10):c.347+16T>C
NM_032977.4(CASP10):c.347+6G>A
NM_032977.4(CASP10):c.347+9G>A rs7608787
NM_032977.4(CASP10):c.347+9G>T rs7608787
NM_032977.4(CASP10):c.348-13G>C
NM_032977.4(CASP10):c.348-16dup rs771877930
NM_032977.4(CASP10):c.361G>A (p.Glu121Lys) rs565907504
NM_032977.4(CASP10):c.365T>C (p.Leu122Pro) rs1944463643
NM_032977.4(CASP10):c.376A>G (p.Ile126Val) rs1391900340
NM_032977.4(CASP10):c.385G>A (p.Glu129Lys) rs2126008482
NM_032977.4(CASP10):c.387G>C (p.Glu129Asp)
NM_032977.4(CASP10):c.387G>T (p.Glu129Asp)
NM_032977.4(CASP10):c.387_388del (p.Asn130fs)
NM_032977.4(CASP10):c.389_393delinsC (p.Asn130fs) rs1944464774
NM_032977.4(CASP10):c.405C>A (p.Ile135=) rs558017414
NM_032977.4(CASP10):c.413T>C (p.Leu138Pro) rs1340599595
NM_032977.4(CASP10):c.416A>C (p.Lys139Thr)
NM_032977.4(CASP10):c.419A>C (p.Asp140Ala)
NM_032977.4(CASP10):c.423G>A (p.Ser141=) rs768931544
NM_032977.4(CASP10):c.441+19A>G
NM_032977.4(CASP10):c.441+8G>A
NM_032977.4(CASP10):c.441G>A (p.Met147Ile)
NM_032977.4(CASP10):c.442-18C>G
NM_032977.4(CASP10):c.448C>A (p.Leu150Ile)
NM_032977.4(CASP10):c.448C>G (p.Leu150Val)
NM_032977.4(CASP10):c.45C>T (p.Asn15=)
NM_032977.4(CASP10):c.461C>A (p.Ala154Glu)
NM_032977.4(CASP10):c.471G>T (p.Glu157Asp)
NM_032977.4(CASP10):c.474A>G (p.Lys158=)
NM_032977.4(CASP10):c.477del (p.Gly160fs) rs766461320
NM_032977.4(CASP10):c.47G>A (p.Cys16Tyr)
NM_032977.4(CASP10):c.487G>T (p.Asp163Tyr)
NM_032977.4(CASP10):c.499C>G (p.Leu167Val)
NM_032977.4(CASP10):c.506G>T (p.Cys169Phe)
NM_032977.4(CASP10):c.522C>G (p.Cys174Trp)
NM_032977.4(CASP10):c.529G>A (p.Val177Ile)
NM_032977.4(CASP10):c.534A>G (p.Val178=) rs146233833
NM_032977.4(CASP10):c.544T>C (p.Leu182=)
NM_032977.4(CASP10):c.548G>T (p.Arg183Ile) rs753989167
NM_032977.4(CASP10):c.551del (p.Asn184fs)
NM_032977.4(CASP10):c.554T>C (p.Ile185Thr) rs753049035
NM_032977.4(CASP10):c.576A>G (p.Lys192=)
NM_032977.4(CASP10):c.577+12G>A rs2126017521
NM_032977.4(CASP10):c.577+5G>T
NM_032977.4(CASP10):c.577+7A>G
NM_032977.4(CASP10):c.577+8G>T rs2126017514
NM_032977.4(CASP10):c.578-10T>G
NM_032977.4(CASP10):c.578-18C>T
NM_032977.4(CASP10):c.578-3C>T
NM_032977.4(CASP10):c.57C>G (p.Ser19Arg)
NM_032977.4(CASP10):c.584A>G (p.Gln195Arg)
NM_032977.4(CASP10):c.587_588del (p.Ile196fs)
NM_032977.4(CASP10):c.590T>C (p.Val197Ala)
NM_032977.4(CASP10):c.593C>A (p.Thr198Lys)
NM_032977.4(CASP10):c.601G>T (p.Val201Leu) rs755710677
NM_032977.4(CASP10):c.604_605insGTGTCACG (p.Asp202fs) rs1559299395
NM_032977.4(CASP10):c.607A>G (p.Lys203Glu)
NM_032977.4(CASP10):c.610G>C (p.Glu204Gln)
NM_032977.4(CASP10):c.615C>T (p.Ala205=)
NM_032977.4(CASP10):c.620C>G (p.Ser207Trp)
NM_032977.4(CASP10):c.625C>A (p.Gln209Lys)
NM_032977.4(CASP10):c.629G>C (p.Gly210Ala)
NM_032977.4(CASP10):c.62G>A (p.Arg21His) rs140813639
NM_032977.4(CASP10):c.641T>G (p.Leu214Arg)
NM_032977.4(CASP10):c.647C>G (p.Ser216Cys)
NM_032977.4(CASP10):c.657T>A (p.Asp219Glu)
NM_032977.4(CASP10):c.682C>T (p.Pro228Ser)
NM_032977.4(CASP10):c.684+15G>A
NM_032977.4(CASP10):c.684+20G>A
NM_032977.4(CASP10):c.684+20G>C
NM_032977.4(CASP10):c.684+4G>A
NM_032977.4(CASP10):c.684+4G>T
NM_032977.4(CASP10):c.684+9A>G
NM_032977.4(CASP10):c.685-15T>C
NM_032977.4(CASP10):c.685-2A>G rs966440916
NM_032977.4(CASP10):c.685C>T (p.Gln229Ter) rs2126038202
NM_032977.4(CASP10):c.686A>T (p.Gln229Leu)
NM_032977.4(CASP10):c.690G>A (p.Glu230=)
NM_032977.4(CASP10):c.701A>T (p.Asn234Ile)
NM_032977.4(CASP10):c.714T>A (p.Gly238=)
NM_032977.4(CASP10):c.721+3A>G
NM_032977.4(CASP10):c.721+7A>G
NM_032977.4(CASP10):c.721G>C (p.Gly241Arg) rs779013005
NM_032977.4(CASP10):c.722-11T>G
NM_032977.4(CASP10):c.722-3T>C
NM_032977.4(CASP10):c.740G>T (p.Gly247Val)
NM_032977.4(CASP10):c.743C>T (p.Ala248Val)
NM_032977.4(CASP10):c.745C>T (p.Pro249Ser)
NM_032977.4(CASP10):c.748del (p.Ser250fs)
NM_032977.4(CASP10):c.752T>C (p.Leu251Pro)
NM_032977.4(CASP10):c.760A>C (p.Arg254=)
NM_032977.4(CASP10):c.760A>G (p.Arg254Gly) rs781669542
NM_032977.4(CASP10):c.765del (p.Met256fs)
NM_032977.4(CASP10):c.76A>G (p.Ile26Val)
NM_032977.4(CASP10):c.788C>G (p.Thr263Ser)
NM_032977.4(CASP10):c.791T>C (p.Leu264Pro)
NM_032977.4(CASP10):c.803C>A (p.Thr268Asn) rs776737353
NM_032977.4(CASP10):c.809C>A (p.Thr270Lys) rs1945189904
NM_032977.4(CASP10):c.810A>G (p.Thr270=) rs759324148
NM_032977.4(CASP10):c.813+3C>T
NM_032977.4(CASP10):c.813+9G>A rs764915124
NM_032977.4(CASP10):c.814-16C>G
NM_032977.4(CASP10):c.814-19G>C
NM_032977.4(CASP10):c.814-6T>G rs762072082
NM_032977.4(CASP10):c.814-9T>C rs2126045790
NM_032977.4(CASP10):c.82G>C (p.Asp28His) rs774542679
NM_032977.4(CASP10):c.839G>A (p.Arg280Gln) rs750581097
NM_032977.4(CASP10):c.844C>A (p.His282Asn) rs1945269105
NM_032977.4(CASP10):c.86C>A (p.Ser29Ter)
NM_032977.4(CASP10):c.875A>T (p.His292Leu) rs1452409142
NM_032977.4(CASP10):c.885C>T (p.Thr295=)
NM_032977.4(CASP10):c.895G>C (p.Asp299His)
NM_032977.4(CASP10):c.901C>G (p.Gln301Glu)
NM_032977.4(CASP10):c.90C>T (p.Asn30=) rs1352975177
NM_032977.4(CASP10):c.912T>C (p.His304=) rs2126046002
NM_032977.4(CASP10):c.920C>A (p.Ala307Asp) rs1291372845
NM_032977.4(CASP10):c.922+18A>G
NM_032977.4(CASP10):c.922+19G>C rs1559308130
NM_032977.4(CASP10):c.923-12G>A
NM_032977.4(CASP10):c.923-12G>T rs201904750
NM_032977.4(CASP10):c.923-12del rs367989998
NM_032977.4(CASP10):c.923-4A>G rs1559308787
NM_032977.4(CASP10):c.924G>A (p.Glu308=)
NM_032977.4(CASP10):c.924G>C (p.Glu308Asp)
NM_032977.4(CASP10):c.928C>T (p.Leu310=) rs771922378
NM_032977.4(CASP10):c.932G>A (p.Ser311Asn)
NM_032977.4(CASP10):c.974A>G (p.Asn325Ser) rs764487945
NM_032977.4(CASP10):c.989T>C (p.Val330Ala)
NM_032977.4(CASP10):c.989del (p.Val330fs) rs2126047727
NM_033360.4(KRAS):c.*101_*106del rs1339924833
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_033360.4(KRAS):c.436G>C (p.Ala146Pro) rs121913527
NM_033360.4(KRAS):c.559A>G (p.Ile187Val) rs779951033
NM_033629.6(TREX1):c.-11_2del (p.Met1fs)
NM_033629.6(TREX1):c.102G>A (p.Leu34=)
NM_033629.6(TREX1):c.10C>A (p.Gln4Lys)
NM_033629.6(TREX1):c.113C>T (p.Ala38Val) rs2040326850
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_033629.6(TREX1):c.126T>G (p.Cys42Trp)
NM_033629.6(TREX1):c.127G>A (p.Ala43Thr) rs780414238
NM_033629.6(TREX1):c.127G>T (p.Ala43Ser) rs780414238
NM_033629.6(TREX1):c.130del (p.Leu44fs)
NM_033629.6(TREX1):c.132G>C (p.Leu44=) rs2107255846
NM_033629.6(TREX1):c.137dup (p.Ser46fs) rs2107255865
NM_033629.6(TREX1):c.139C>A (p.Pro47Thr) rs751831423
NM_033629.6(TREX1):c.139C>T (p.Pro47Ser)
NM_033629.6(TREX1):c.140C>A (p.Pro47His)
NM_033629.6(TREX1):c.141_151del (p.Pro48fs)
NM_033629.6(TREX1):c.142C>T (p.Pro48Ser)
NM_033629.6(TREX1):c.142_144del (p.Pro48del) rs748914604
NM_033629.6(TREX1):c.143C>G (p.Pro48Arg)
NM_033629.6(TREX1):c.143C>T (p.Pro48Leu) rs2040328677
NM_033629.6(TREX1):c.144C>A (p.Pro48=) rs781060789
NM_033629.6(TREX1):c.144C>G (p.Pro48=) rs781060789
NM_033629.6(TREX1):c.144C>T (p.Pro48=) rs781060789
NM_033629.6(TREX1):c.144del (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.14C>A (p.Ala5Asp)
NM_033629.6(TREX1):c.150_151del (p.Gln51fs) rs770607110
NM_033629.6(TREX1):c.152A>C (p.Gln51Pro) rs2107256110
NM_033629.6(TREX1):c.152A>G (p.Gln51Arg)
NM_033629.6(TREX1):c.153_166del (p.Gln51fs) rs2107256093
NM_033629.6(TREX1):c.15C>T (p.Ala5=)
NM_033629.6(TREX1):c.165C>T (p.Pro55=)
NM_033629.6(TREX1):c.168A>C (p.Thr56=) rs770441459
NM_033629.6(TREX1):c.173C>T (p.Pro58Leu)
NM_033629.6(TREX1):c.178C>T (p.Pro60Ser)
NM_033629.6(TREX1):c.182C>G (p.Pro61Arg) rs777034646
NM_033629.6(TREX1):c.182C>T (p.Pro61Leu) rs777034646
NM_033629.6(TREX1):c.184C>G (p.Arg62Gly)
NM_033629.6(TREX1):c.184C>T (p.Arg62Cys) rs532286717
NM_033629.6(TREX1):c.185G>A (p.Arg62His) rs547752029
NM_033629.6(TREX1):c.185G>T (p.Arg62Leu) rs547752029
NM_033629.6(TREX1):c.187G>A (p.Val63Met)
NM_033629.6(TREX1):c.18G>C (p.Leu6=)
NM_033629.6(TREX1):c.18dup (p.Pro7fs)
NM_033629.6(TREX1):c.191T>C (p.Val64Ala) rs763056226
NM_033629.6(TREX1):c.192A>C (p.Val64=) rs2107256574
NM_033629.6(TREX1):c.194A>G (p.Asp65Gly)
NM_033629.6(TREX1):c.205_206del (p.Leu69fs)
NM_033629.6(TREX1):c.206T>C (p.Leu69Pro) rs2107256717
NM_033629.6(TREX1):c.207G>T (p.Leu69=)
NM_033629.6(TREX1):c.209G>C (p.Cys70Ser)
NM_033629.6(TREX1):c.20C>G (p.Pro7Arg)
NM_033629.6(TREX1):c.212_213del (p.Val71fs) rs74689946
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) rs74689946
NM_033629.6(TREX1):c.213G>A (p.Val71=)
NM_033629.6(TREX1):c.216T>A (p.Ala72=)
NM_033629.6(TREX1):c.21C>A (p.Pro7=)
NM_033629.6(TREX1):c.21C>T (p.Pro7=) rs761094995
NM_033629.6(TREX1):c.224A>G (p.Lys75Arg)
NM_033629.6(TREX1):c.226_233dup (p.Ser78fs)
NM_033629.6(TREX1):c.229T>C (p.Cys77Arg)
NM_033629.6(TREX1):c.22C>G (p.Pro8Ala)
NM_033629.6(TREX1):c.236_243del (p.Pro79fs) rs1331920811
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.23dup (p.Pro10fs) rs781731683
NM_033629.6(TREX1):c.242C>T (p.Ala81Val)
NM_033629.6(TREX1):c.246C>A (p.Ser82Arg)
NM_033629.6(TREX1):c.246C>T (p.Ser82=)
NM_033629.6(TREX1):c.247G>C (p.Glu83Gln)
NM_033629.6(TREX1):c.249G>A (p.Glu83=)
NM_033629.6(TREX1):c.251T>G (p.Ile84Ser) rs748535974
NM_033629.6(TREX1):c.258T>C (p.Gly86=)
NM_033629.6(TREX1):c.259C>G (p.Leu87Val)
NM_033629.6(TREX1):c.260T>C (p.Leu87Pro)
NM_033629.6(TREX1):c.263G>T (p.Ser88Ile)
NM_033629.6(TREX1):c.26G>A (p.Gly9Glu) rs2040321005
NM_033629.6(TREX1):c.271G>C (p.Val91Leu)
NM_033629.6(TREX1):c.277G>A (p.Ala93Thr)
NM_033629.6(TREX1):c.27G>T (p.Gly9=) rs908382062
NM_033629.6(TREX1):c.284A>C (p.His95Pro)
NM_033629.6(TREX1):c.287G>C (p.Gly96Ala)
NM_033629.6(TREX1):c.289C>T (p.Arg97Cys)
NM_033629.6(TREX1):c.294A>C (p.Gln98His)
NM_033629.6(TREX1):c.294_296dup (p.Cys99Ter)
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164
NM_033629.6(TREX1):c.295T>C (p.Cys99Arg)
NM_033629.6(TREX1):c.296_299dup (p.Phe100fs) rs763966000
NM_033629.6(TREX1):c.298T>C (p.Phe100Leu)
NM_033629.6(TREX1):c.2T>C (p.Met1Thr) rs1179208432
NM_033629.6(TREX1):c.300T>A (p.Phe100Leu) rs2107257691
NM_033629.6(TREX1):c.302A>G (p.Asp101Gly)
NM_033629.6(TREX1):c.306C>T (p.Asp102=)
NM_033629.6(TREX1):c.30C>G (p.Pro10=)
NM_033629.6(TREX1):c.30C>T (p.Pro10=) rs560658691
NM_033629.6(TREX1):c.314C>T (p.Ala105Val)
NM_033629.6(TREX1):c.318C>T (p.Asn106=)
NM_033629.6(TREX1):c.321G>A (p.Leu107=) rs771553021
NM_033629.6(TREX1):c.324C>T (p.Leu108=)
NM_033629.6(TREX1):c.329C>G (p.Ala110Gly)
NM_033629.6(TREX1):c.32T>C (p.Met11Thr)
NM_033629.6(TREX1):c.334C>T (p.Leu112=)
NM_033629.6(TREX1):c.337C>G (p.Arg113Gly) rs759594113
NM_033629.6(TREX1):c.345G>T (p.Gln115His)
NM_033629.6(TREX1):c.349C>T (p.Gln117Ter)
NM_033629.6(TREX1):c.35A>G (p.Gln12Arg) rs780467272
NM_033629.6(TREX1):c.360C>T (p.Cys120=) rs1436644080
NM_033629.6(TREX1):c.366_367del (p.Ala123fs)
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) rs77371662
NM_033629.6(TREX1):c.369A>G (p.Ala123=)
NM_033629.6(TREX1):c.371_381del (p.His124fs)
NM_033629.6(TREX1):c.374A>G (p.Asn125Ser) rs757863487
NM_033629.6(TREX1):c.375T>C (p.Asn125=)
NM_033629.6(TREX1):c.375dup (p.Gly126fs) rs1575292873
NM_033629.6(TREX1):c.378T>C (p.Gly126=)
NM_033629.6(TREX1):c.380A>T (p.Asp127Val)
NM_033629.6(TREX1):c.382_390del (p.Arg128_Asp130del)
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) rs781051771
NM_033629.6(TREX1):c.391T>A (p.Phe131Ile)
NM_033629.6(TREX1):c.391T>C (p.Phe131Leu)
NM_033629.6(TREX1):c.391T>G (p.Phe131Val) rs1064796645
NM_033629.6(TREX1):c.393C>T (p.Phe131=) rs749667732
NM_033629.6(TREX1):c.399dup (p.Leu134fs) rs2107258834
NM_033629.6(TREX1):c.400C>A (p.Leu134Ile)
NM_033629.6(TREX1):c.403C>G (p.Gln135Glu) rs746384382
NM_033629.6(TREX1):c.405A>G (p.Gln135=)
NM_033629.6(TREX1):c.408A>G (p.Ala136=)
NM_033629.6(TREX1):c.40C>T (p.Leu14Phe)
NM_033629.6(TREX1):c.410A>C (p.Glu137Ala)
NM_033629.6(TREX1):c.412C>G (p.Leu138Val) rs2040349486
NM_033629.6(TREX1):c.419T>C (p.Met140Thr) rs2107259076
NM_033629.6(TREX1):c.425G>C (p.Gly142Ala)
NM_033629.6(TREX1):c.430A>T (p.Thr144Ser) rs2040351031
NM_033629.6(TREX1):c.434G>A (p.Ser145Asn) rs2040351297
NM_033629.6(TREX1):c.43_45dup (p.Ile15dup) rs2040322179
NM_033629.6(TREX1):c.440T>C (p.Leu147Pro)
NM_033629.6(TREX1):c.446G>C (p.Gly149Ala)
NM_033629.6(TREX1):c.448G>A (p.Ala150Thr)
NM_033629.6(TREX1):c.450C>G (p.Ala150=)
NM_033629.6(TREX1):c.453C>G (p.Phe151Leu)
NM_033629.6(TREX1):c.463A>G (p.Ser155Gly) rs776885477
NM_033629.6(TREX1):c.465C>T (p.Ser155=)
NM_033629.6(TREX1):c.466A>G (p.Ile156Val)
NM_033629.6(TREX1):c.467_469dup (p.Ile156dup) rs1272053329
NM_033629.6(TREX1):c.468C>G (p.Ile156Met)
NM_033629.6(TREX1):c.469A>G (p.Thr157Ala)
NM_033629.6(TREX1):c.470C>G (p.Thr157Ser) rs1210588757
NM_033629.6(TREX1):c.471T>C (p.Thr157=)
NM_033629.6(TREX1):c.474_475delinsCT (p.Ala158_Leu159=)
NM_033629.6(TREX1):c.478A>C (p.Lys160Gln)
NM_033629.6(TREX1):c.484C>T (p.Leu162=) rs1553820257
NM_033629.6(TREX1):c.491G>A (p.Arg164Gln) rs143885312
NM_033629.6(TREX1):c.491G>C (p.Arg164Pro) rs143885312
NM_033629.6(TREX1):c.491G>T (p.Arg164Leu)
NM_033629.6(TREX1):c.494C>A (p.Ala165Glu) rs2040354615
NM_033629.6(TREX1):c.495A>C (p.Ala165=)
NM_033629.6(TREX1):c.495A>G (p.Ala165=)
NM_033629.6(TREX1):c.497G>C (p.Ser166Thr) rs1177028457
NM_033629.6(TREX1):c.502C>T (p.Pro168Ser)
NM_033629.6(TREX1):c.503C>T (p.Pro168Leu)
NM_033629.6(TREX1):c.505T>C (p.Ser169Pro)
NM_033629.6(TREX1):c.508G>A (p.Glu170Lys)
NM_033629.6(TREX1):c.509A>G (p.Glu170Gly) rs2107260081
NM_033629.6(TREX1):c.513del (p.His171fs)
NM_033629.6(TREX1):c.514G>A (p.Gly172Ser)
NM_033629.6(TREX1):c.518C>T (p.Pro173Leu)
NM_033629.6(TREX1):c.519A>G (p.Pro173=)
NM_033629.6(TREX1):c.51C>T (p.Phe17=)
NM_033629.6(TREX1):c.521G>A (p.Arg174Lys)
NM_033629.6(TREX1):c.522_523delinsTT (p.Arg174_Lys175delinsSerTer)
NM_033629.6(TREX1):c.524_526dup (p.Lys175_Ser176insLys)
NM_033629.6(TREX1):c.526A>G (p.Ser176Gly) rs2107260408
NM_033629.6(TREX1):c.527G>T (p.Ser176Ile) rs1464355841
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.531_548del (p.Ser178_Tyr183del)
NM_033629.6(TREX1):c.535C>T (p.Leu179=) rs1575293364
NM_033629.6(TREX1):c.540C>T (p.Gly180=) rs2040359280
NM_033629.6(TREX1):c.548A>G (p.Tyr183Cys)
NM_033629.6(TREX1):c.54C>T (p.Asp18=)
NM_033629.6(TREX1):c.554G>A (p.Arg185His) rs767157848
NM_033629.6(TREX1):c.558G>A (p.Leu186=) rs2107261127
NM_033629.6(TREX1):c.558G>C (p.Leu186=)
NM_033629.6(TREX1):c.55A>C (p.Met19Leu) rs2107255139
NM_033629.6(TREX1):c.55A>G (p.Met19Val)
NM_033629.6(TREX1):c.55dup (p.Met19fs)
NM_033629.6(TREX1):c.565C>T (p.Gln189Ter)
NM_033629.6(TREX1):c.56T>C (p.Met19Thr)
NM_033629.6(TREX1):c.574C>T (p.Pro192Ser)
NM_033629.6(TREX1):c.578A>G (p.Asp193Gly) rs1575293494
NM_033629.6(TREX1):c.589G>A (p.Ala197Thr)
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.591T>C (p.Ala197=)
NM_033629.6(TREX1):c.592G>A (p.Glu198Lys) rs1416519719
NM_033629.6(TREX1):c.594G>A (p.Glu198=) rs2040363169
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) rs78846775
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.5del (p.Gly2fs) rs2107254550
NM_033629.6(TREX1):c.600T>C (p.Asp200=)
NM_033629.6(TREX1):c.607G>A (p.Ala203Thr) rs2107261840
NM_033629.6(TREX1):c.608C>T (p.Ala203Val) rs2107261898
NM_033629.6(TREX1):c.60G>A (p.Glu20=)
NM_033629.6(TREX1):c.615C>T (p.Leu205=)
NM_033629.6(TREX1):c.616A>G (p.Ser206Gly)
NM_033629.6(TREX1):c.617G>A (p.Ser206Asn)
NM_033629.6(TREX1):c.621C>G (p.Ile207Met)
NM_033629.6(TREX1):c.621_622del (p.Ile207fs) rs781199890
NM_033629.6(TREX1):c.623G>A (p.Cys208Tyr)
NM_033629.6(TREX1):c.627G>C (p.Gln209His) rs748970378
NM_033629.6(TREX1):c.632G>A (p.Arg211Lys)
NM_033629.6(TREX1):c.633A>C (p.Arg211Ser) rs1433877282
NM_033629.6(TREX1):c.635del (p.Pro212fs) rs756664985
NM_033629.6(TREX1):c.638A>G (p.Gln213Arg)
NM_033629.6(TREX1):c.63C>T (p.Ala21=)
NM_033629.6(TREX1):c.640G>A (p.Ala214Thr) rs1575293697
NM_033629.6(TREX1):c.642C>G (p.Ala214=)
NM_033629.6(TREX1):c.645G>A (p.Leu215=)
NM_033629.6(TREX1):c.649C>A (p.Arg217=)
NM_033629.6(TREX1):c.650G>A (p.Arg217Gln) rs775117062
NM_033629.6(TREX1):c.655G>T (p.Val219Leu)
NM_033629.6(TREX1):c.662C>T (p.Ala221Val)
NM_033629.6(TREX1):c.663T>A (p.Ala221=)
NM_033629.6(TREX1):c.663T>G (p.Ala221=)
NM_033629.6(TREX1):c.664C>A (p.His222Asn)
NM_033629.6(TREX1):c.666C>A (p.His222Gln)
NM_033629.6(TREX1):c.666C>G (p.His222Gln) rs1431098691
NM_033629.6(TREX1):c.666C>T (p.His222=)
NM_033629.6(TREX1):c.670A>C (p.Arg224=)
NM_033629.6(TREX1):c.676T>C (p.Phe226Leu)
NM_033629.6(TREX1):c.678C>G (p.Phe226Leu)
NM_033629.6(TREX1):c.678C>T (p.Phe226=) rs139228069
NM_033629.6(TREX1):c.685A>G (p.Ile229Val)
NM_033629.6(TREX1):c.694A>G (p.Met232Val) rs2040371837
NM_033629.6(TREX1):c.69C>T (p.Gly23=)
NM_033629.6(TREX1):c.69dup (p.Pro25fs)
NM_033629.6(TREX1):c.6C>T (p.Gly2=)
NM_033629.6(TREX1):c.703del (p.Val235fs)
NM_033629.6(TREX1):c.703dup (p.Val235fs) rs1553820434
NM_033629.6(TREX1):c.704T>G (p.Val235Gly) rs2107263775
NM_033629.6(TREX1):c.705C>T (p.Val235=)
NM_033629.6(TREX1):c.70T>C (p.Leu24=)
NM_033629.6(TREX1):c.710_711insG (p.Ser238fs)
NM_033629.6(TREX1):c.720G>A (p.Arg240=) rs72556555
NM_033629.6(TREX1):c.726G>A (p.Lys242=)
NM_033629.6(TREX1):c.72G>A (p.Leu24=)
NM_033629.6(TREX1):c.733C>T (p.Pro245Ser)
NM_033629.6(TREX1):c.734C>G (p.Pro245Arg) rs1560113388
NM_033629.6(TREX1):c.735A>T (p.Pro245=)
NM_033629.6(TREX1):c.735_737dup (p.Ser246_Ala247insSer)
NM_033629.6(TREX1):c.736T>C (p.Ser246Pro)
NM_033629.6(TREX1):c.739G>A (p.Ala247Thr) rs112741962
NM_033629.6(TREX1):c.746C>T (p.Thr249Ile) rs759962919
NM_033629.6(TREX1):c.749C>T (p.Thr250Ile) rs2040376821
NM_033629.6(TREX1):c.74C>T (p.Pro25Leu)
NM_033629.6(TREX1):c.752C>T (p.Thr251Ile)
NM_033629.6(TREX1):c.753T>G (p.Thr251=)
NM_033629.6(TREX1):c.757C>G (p.His253Asp) rs1236695721
NM_033629.6(TREX1):c.757C>T (p.His253Tyr)
NM_033629.6(TREX1):c.758A>G (p.His253Arg)
NM_033629.6(TREX1):c.75C>G (p.Pro25=)
NM_033629.6(TREX1):c.760C>A (p.Leu254Met)
NM_033629.6(TREX1):c.760C>T (p.Leu254=)
NM_033629.6(TREX1):c.769A>G (p.Thr257Ala)
NM_033629.6(TREX1):c.76_80dup (p.Gln28fs)
NM_033629.6(TREX1):c.770C>T (p.Thr257Ile) rs1447568260
NM_033629.6(TREX1):c.780_781del (p.Pro262fs)
NM_033629.6(TREX1):c.781A>G (p.Ser261Gly)
NM_033629.6(TREX1):c.783T>C (p.Ser261=)
NM_033629.6(TREX1):c.786C>T (p.Pro262=)
NM_033629.6(TREX1):c.787A>C (p.Ser263Arg)
NM_033629.6(TREX1):c.787A>G (p.Ser263Gly) rs2107264871
NM_033629.6(TREX1):c.788G>A (p.Ser263Asn)
NM_033629.6(TREX1):c.795_802dup (p.Arg268fs) rs2107264951
NM_033629.6(TREX1):c.796G>T (p.Glu266Ter) rs757478752
NM_033629.6(TREX1):c.798G>A (p.Glu266=) rs745652233
NM_033629.6(TREX1):c.799dup (p.Ser267fs) rs2107265081
NM_033629.6(TREX1):c.802del (p.Arg268fs) rs2107265153
NM_033629.6(TREX1):c.803G>A (p.Arg268Lys)
NM_033629.6(TREX1):c.805G>A (p.Gly269Ser)
NM_033629.6(TREX1):c.806G>A (p.Gly269Asp)
NM_033629.6(TREX1):c.806G>T (p.Gly269Val)
NM_033629.6(TREX1):c.815A>C (p.Asp272Ala)
NM_033629.6(TREX1):c.815A>T (p.Asp272Val)
NM_033629.6(TREX1):c.817C>G (p.Leu273Val) rs2040382167
NM_033629.6(TREX1):c.817C>T (p.Leu273Phe)
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) rs1553820518
NM_033629.6(TREX1):c.830A>G (p.Lys277Arg)
NM_033629.6(TREX1):c.83A>G (p.Gln28Arg) rs1369567808
NM_033629.6(TREX1):c.849C>T (p.Ser283=) rs776171409
NM_033629.6(TREX1):c.84G>C (p.Gln28His)
NM_033629.6(TREX1):c.854A>T (p.Glu285Val) rs2040385549
NM_033629.6(TREX1):c.856_865dup (p.Ala289fs) rs2040385695
NM_033629.6(TREX1):c.857G>A (p.Gly286Glu) rs2040386246
NM_033629.6(TREX1):c.858_867delinsTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTAT (p.Leu287_Ala289delinsGlyCysSerArgGlnAlaPheArgHisHisGlnAlaHisValTrpGlyHisSerLeuCysTer) rs2107266070
NM_033629.6(TREX1):c.858dup (p.Leu287fs) rs2107265977
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_033629.6(TREX1):c.871C>T (p.Leu291=)
NM_033629.6(TREX1):c.873G>A (p.Leu291=)
NM_033629.6(TREX1):c.873G>C (p.Leu291=)
NM_033629.6(TREX1):c.880C>T (p.Leu294=)
NM_033629.6(TREX1):c.889C>T (p.Leu297=)
NM_033629.6(TREX1):c.88A>G (p.Lys30Glu)
NM_033629.6(TREX1):c.892A>T (p.Thr298Ser)
NM_033629.6(TREX1):c.895T>G (p.Leu299Val)
NM_033629.6(TREX1):c.899C>T (p.Ala300Val) rs1553820567
NM_033629.6(TREX1):c.901G>A (p.Val301Ile)
NM_033629.6(TREX1):c.902dup (p.Ala302fs)
NM_033629.6(TREX1):c.908C>T (p.Thr303Ile) rs765487310
NM_033629.6(TREX1):c.909A>G (p.Thr303=)
NM_033629.6(TREX1):c.909_910del (p.Leu304fs) rs1315240244
NM_033629.6(TREX1):c.910C>T (p.Leu304=)
NM_033629.6(TREX1):c.913_916del (p.Tyr305fs) rs778550314
NM_033629.6(TREX1):c.915T>C (p.Tyr305=)
NM_033629.6(TREX1):c.916G>A (p.Gly306Arg) rs2040391623
NM_033629.6(TREX1):c.916G>T (p.Gly306Ter) rs2040391623
NM_033629.6(TREX1):c.917G>C (p.Gly306Ala)
NM_033629.6(TREX1):c.918A>G (p.Gly306=)
NM_033629.6(TREX1):c.91G>A (p.Val31Ile) rs1057321761
NM_033629.6(TREX1):c.921A>G (p.Leu307=)
NM_033629.6(TREX1):c.930C>A (p.Ala310=)
NM_033629.6(TREX1):c.934C>G (p.Pro312Ala) rs1265570241
NM_033629.6(TREX1):c.939G>A (p.Gly313=) rs2040393602
NM_033629.6(TREX1):c.96G>A (p.Thr32=)
NM_033629.6(TREX1):c.98A>T (p.Glu33Val)
NM_080628.3(TLDC2):c.*18-641T>G rs886056644
NM_080628.3(TLDC2):c.*18-647C>G rs1990092783
NM_080628.3(TLDC2):c.*18-812A>G rs1990087887
NM_138636.5(TLR8):c.1715G>T (p.Gly572Val) rs1385657144
NM_138636.5(TLR8):c.2498T>C (p.Phe833Ser) rs997809680
NM_139276.3(STAT3):c.1004G>A (p.Arg335Gln)
NM_139276.3(STAT3):c.1032G>C (p.Gln344His) rs869312887
NM_139276.3(STAT3):c.1057G>T (p.Val353Phe) rs869312891
NM_139276.3(STAT3):c.1129G>A (p.Ala377Thr) rs2081912356
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_139276.3(STAT3):c.1175A>G (p.Lys392Arg) rs587777648
NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys) rs193922717
NM_139276.3(STAT3):c.1260T>G (p.Asn420Lys) rs869312893
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg) rs869312888
NM_139276.3(STAT3):c.1310A>T (p.His437Leu) rs2081712040
NM_139276.3(STAT3):c.1333G>A (p.Val445Met)
NM_139276.3(STAT3):c.1601-10dup rs3830585
NM_139276.3(STAT3):c.1938C>G (p.Asn646Lys) rs587777649
NM_139276.3(STAT3):c.1973A>G (p.Lys658Arg) rs2081520204
NM_139276.3(STAT3):c.1974G>C (p.Lys658Asn) rs587777650
NM_139276.3(STAT3):c.1974G>T (p.Lys658Asn) rs587777650
NM_139276.3(STAT3):c.1988C>T (p.Thr663Ile) rs869312889
NM_139276.3(STAT3):c.2107G>A (p.Ala703Thr) rs869312894
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.2258-2A>G
NM_139276.3(STAT3):c.454C>T (p.Arg152Trp) rs869312890
NM_139276.3(STAT3):c.551-1G>C rs1598423756
NM_139276.3(STAT3):c.986T>G (p.Met329Arg) rs1555566820
NM_147686.4(TRAF3IP2):c.1286C>A (p.Thr429Asn) rs1583223171
NM_153758.5(IL19):c.-149+4208T>C rs587776843
NM_170662.5(CBLB):c.1308C>G (p.Cys436Trp)
NM_170662.5(CBLB):c.1402C>T (p.Arg468Ter)
NM_170662.5(CBLB):c.770A>T (p.His257Leu)
NM_181078.3(IL21R):c.563del (p.Leu188fs) rs2087444941

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