ClinVar Miner

List of variants studied for dermatitis

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1696
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HGVS dbSNP gnomAD frequency
NM_000505.4(F12):c.619G>C (p.Ala207Pro) rs17876030 0.96534
NM_012275.3(IL36RN):c.*863C>T rs2515404 0.78209
NM_001366385.1(CARD14):c.675+26G>A rs4889991 0.77525
NM_000301.5(PLG):c.1878-17G>A rs2859879 0.68619
NM_000505.4(F12):c.-4T>C rs1801020 0.67118
NM_012275.3(IL36RN):c.*276A>G rs1800930 0.64674
NM_012275.3(IL36RN):c.*418A>G rs3180235 0.64649
NM_012275.3(IL36RN):c.*560C>G rs2472188 0.64649
NM_012275.3(IL36RN):c.*946T>C rs957201 0.64647
NM_012275.3(IL36RN):c.*222T>C rs2515401 0.64643
NM_012275.3(IL36RN):c.*326C>A rs2515402 0.64633
NM_012275.3(IL36RN):c.*478T>C rs2515403 0.64623
NM_012275.3(IL36RN):c.*1399T>C rs768627 0.63435
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668 0.61569
NM_000062.3(SERPING1):c.1030-20A>G rs2511988 0.60677
NM_000062.3(SERPING1):c.1029+2110T>C rs2454659 0.60589
NM_000301.5(PLG):c.2286T>G (p.Gly762=) rs11060 0.55831
NM_000505.4(F12):c.1019-28T>C rs17876031 0.55815
NM_000301.5(PLG):c.*45A>G rs6690 0.54884
NM_001366385.1(CARD14):c.1852-60T>C rs2304856 0.51286
NM_000301.5(PLG):c.771T>C (p.Cys257=) rs14224 0.44739
NM_001366385.1(CARD14):c.2398+42T>C rs4889836 0.41735
NM_001366385.1(CARD14):c.2398+30A>G rs4889996 0.41701
NM_001366385.1(CARD14):c.2399-4A>G rs11653893 0.40359
NM_001366385.1(CARD14):c.2398+49G>A rs4889997 0.40159
NM_001366385.1(CARD14):c.2458C>T (p.Arg820Trp) rs11652075 0.39960
NM_000062.3(SERPING1):c.551-155A>G rs2936694 0.39893
NM_001366385.1(CARD14):c.1979-125C>A rs3813063 0.39784
NM_000062.3(SERPING1):c.52-696C>T rs1005511 0.39698
NM_000062.3(SERPING1):c.1030-865C>T rs2511989 0.39267
NM_000062.3(SERPING1):c.52-130C>T rs1005510 0.38858
NM_001366385.1(CARD14):c.633G>A (p.Glu211=) rs4889990 0.37893
NM_001366385.1(CARD14):c.1641G>C (p.Arg547Ser) rs2066964 0.35511
NM_000301.5(PLG):c.942C>T (p.Phe314=) rs1130656 0.35208
NM_000301.5(PLG):c.950+14G>A rs2295368 0.35203
NM_000301.5(PLG):c.330C>T (p.Asn110=) rs4757 0.34390
NM_013447.4(ADGRE2):c.461A>T (p.Lys154Ile) rs12985807 0.32696
NM_001366385.1(CARD14):c.676-6G>A rs28674001 0.31201
NM_000062.3(SERPING1):c.1250-282T>C rs1557522 0.31091
NC_000023.11:g.129736814C>A rs3788853 0.21748
NM_000062.3(SERPING1):c.685+1100C>T rs78364821 0.21309
NM_000062.3(SERPING1):c.1029+1443G>C rs78624400 0.21307
NM_000062.3(SERPING1):c.1438G>A (p.Val480Met) rs4926 0.21304
NM_000062.3(SERPING1):c.1029+312T>C rs11603020 0.21296
NM_000062.3(SERPING1):c.1250-538T>C rs10896631 0.21295
NM_000062.3(SERPING1):c.1029+851C>G rs11229066 0.21292
NM_000062.3(SERPING1):c.1030-1222A>G rs3824988 0.21286
NM_000062.3(SERPING1):c.1029+926G>T rs11229067 0.21283
NM_000062.3(SERPING1):c.1029+2111G>A rs138770460 0.21254
NM_000062.3(SERPING1):c.686-1565G>A rs28362950 0.21220
NM_000062.3(SERPING1):c.685+88G>A rs11229063 0.20974
NM_000062.3(SERPING1):c.686-957A>G rs28362951 0.20950
NM_000062.3(SERPING1):c.686-1572G>T rs28362949 0.20898
NM_000062.3(SERPING1):c.551-500C>G rs28362947 0.20877
NM_012275.3(IL36RN):c.*1914C>T rs2515406 0.17177
NM_012275.3(IL36RN):c.*1082C>A rs957200 0.17157
NM_012275.3(IL36RN):c.*1987G>A rs996879 0.17155
NM_012275.3(IL36RN):c.*1633C>T rs2515405 0.17068
NM_012275.3(IL36RN):c.*1634A>G rs2472189 0.17068
NM_012275.3(IL36RN):c.*1881G>T rs996878 0.15858
NM_001378687.1(ATP2C1):c.2598G>A (p.Lys866=) rs16835513 0.12740
NM_000062.3(SERPING1):c.51+101G>A rs28362945 0.12487
NM_001366385.1(CARD14):c.1323C>T (p.Asp441=) rs11658460 0.10192
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000374.5(UROD):c.603A>G (p.Pro201=) rs2228084 0.08811
NM_001366385.1(CARD14):c.2283+11A>C rs9905662 0.07362
NM_001366385.1(CARD14):c.2481C>T (p.Pro827=) rs61757652 0.07175
NM_001366385.1(CARD14):c.1753G>A (p.Val585Ile) rs34367357 0.06519
NM_001378687.1(ATP2C1):c.6+15C>G rs112703671 0.05056
NM_012275.3(IL36RN):c.*828G>A rs114189538 0.04709
NM_001366385.1(CARD14):c.2885G>A (p.Arg962Gln) rs34850974 0.04584
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000374.5(UROD):c.-134T>G rs7536892 0.03627
NM_001366385.1(CARD14):c.1170C>T (p.Phe390=) rs74951924 0.03377
NM_012275.3(IL36RN):c.*935G>C rs11675540 0.03294
NM_000062.3(SERPING1):c.-21T>C rs28362944 0.03250
NM_003052.5(SLC34A1):c.*202A>C rs6556319 0.03226
NM_001378687.1(ATP2C1):c.636G>A (p.Ser212=) rs6810181 0.03154
NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=) rs7379524 0.02591
NM_000505.4(F12):c.711C>T (p.Pro237=) rs17876047 0.02352
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933 0.02221
NM_001366385.1(CARD14):c.1264G>A (p.Glu422Lys) rs61751629 0.02212
NM_000505.4(F12):c.756C>T (p.Ala252=) rs41309752 0.01977
NM_012275.3(IL36RN):c.*1902T>C rs28939968 0.01844
NM_001366385.1(CARD14):c.2853G>A (p.Glu951=) rs78569961 0.01590
NM_000062.3(SERPING1):c.1218C>T (p.Ser406=) rs11229070 0.01377
NM_000301.5(PLG):c.1380T>A (p.Ser460Arg) rs116573785 0.01344
NM_012275.3(IL36RN):c.*308T>G rs114200724 0.01255
NM_012275.3(IL36RN):c.*1660G>A rs74502334 0.01253
NM_000062.3(SERPING1):c.1030-1975G>C rs151035150 0.01222
NM_001366385.1(CARD14):c.1789C>T (p.Arg597Trp) rs73429414 0.01118
NM_014382.4(ATP2C1):c.*1820A>G rs72628536 0.01112
NM_001366385.1(CARD14):c.2044C>T (p.Arg682Trp) rs117918077 0.01097
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_001378687.1(ATP2C1):c.1348G>A (p.Ala450Thr) rs41434650 0.01025
NM_001366385.1(CARD14):c.2267G>A (p.Cys756Tyr) rs34822755 0.01019
NM_001366385.1(CARD14):c.1517C>T (p.Pro506Leu) rs61751630 0.00959
NM_001366385.1(CARD14):c.1499+13G>A rs114086314 0.00912
NM_000374.5(UROD):c.*3G>A rs74349352 0.00902
NM_181078.3(IL21R):c.-17+563G>A rs117535117 0.00901
NM_001039569.2(AP1S3):c.11T>G (p.Phe4Cys) rs116107386 0.00898
NM_001366385.1(CARD14):c.843+16C>T rs143622685 0.00868
NM_001366385.1(CARD14):c.2193G>A (p.Ala731=) rs35692270 0.00788
NM_000301.5(PLG):c.1567C>T (p.Arg523Trp) rs4252129 0.00772
NM_001378687.1(ATP2C1):c.*686G>A rs150024961 0.00771
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) rs138292988 0.00725
NM_012275.3(IL36RN):c.*1763G>A rs72946729 0.00725
NM_001366385.1(CARD14):c.2409G>A (p.Thr803=) rs115102551 0.00689
NM_012275.3(IL36RN):c.369G>C (p.Thr123=) rs28938778 0.00682
NM_000505.4(F12):c.1342C>T (p.Arg448Cys) rs115119084 0.00679
NM_000062.3(SERPING1):c.1029+1497A>G rs17661117 0.00675
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln) rs52822694 0.00673
NM_001366385.1(CARD14):c.2772C>T (p.His924=) rs146356100 0.00593
NM_001366385.1(CARD14):c.2763C>T (p.Ile921=) rs150378107 0.00572
NM_000062.3(SERPING1):c.751C>T (p.Leu251=) rs35788383 0.00558
NM_000374.5(UROD):c.952G>A (p.Gly318Arg) rs116233118 0.00531
NM_000374.5(UROD):c.758T>A (p.Leu253Gln) rs36033115 0.00527
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_001366385.1(CARD14):c.2496C>T (p.Leu832=) rs139789664 0.00506
NM_003052.5(SLC34A1):c.*485G>A rs143160780 0.00504
NM_001366385.1(CARD14):c.2829C>T (p.Gly943=) rs200640336 0.00496
NM_000505.4(F12):c.398-12C>T rs56285942 0.00495
NM_000505.4(F12):c.1272G>C (p.Thr424=) rs61737766 0.00486
NM_001366385.1(CARD14):c.1476C>T (p.Phe492=) rs144710573 0.00483
NM_000374.5(UROD):c.450G>A (p.Pro150=) rs2234479 0.00475
NM_012275.3(IL36RN):c.*1995T>C rs28938782 0.00468
NM_001378687.1(ATP2C1):c.1623G>C (p.Leu541Phe) rs61731516 0.00466
NM_001366385.1(CARD14):c.709A>C (p.Asn237His) rs114218658 0.00457
NM_001366385.1(CARD14):c.185G>A (p.Arg62Gln) rs115582620 0.00439
NM_001366385.1(CARD14):c.2822G>A (p.Arg941Gln) rs74000616 0.00421
NM_001366385.1(CARD14):c.1662C>T (p.Gly554=) rs149971215 0.00397
NM_001366385.1(CARD14):c.2859G>A (p.Ala953=) rs139969019 0.00386
NM_000418.4(IL4R):c.1160C>T (p.Ser387Leu) rs6413500 0.00374
NM_000301.5(PLG):c.1281G>A (p.Arg427=) rs149909079 0.00373
NM_001378687.1(ATP2C1):c.1683C>T (p.Ala561=) rs114319700 0.00372
NM_000505.4(F12):c.930G>C (p.Arg310Ser) rs77098327 0.00359
NM_012275.3(IL36RN):c.140A>G (p.Asn47Ser) rs28938777 0.00348
NM_001366385.1(CARD14):c.1917C>T (p.Ala639=) rs79407194 0.00344
NM_001378687.1(ATP2C1):c.117+7G>A rs41266501 0.00334
NM_001366385.1(CARD14):c.1979-15G>A rs199898989 0.00303
NM_000505.3(F12):c.-57G>C rs41309132 0.00297
NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser) rs56148525 0.00271
NM_001366385.1(CARD14):c.2648G>A (p.Arg883His) rs2289541 0.00267
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_000301.5(PLG):c.1431C>T (p.Ser477=) rs4699 0.00248
NM_000505.4(F12):c.418C>G (p.Leu140Val) rs35515200 0.00247
NM_001366385.1(CARD14):c.378G>A (p.Glu126=) rs138552007 0.00247
NM_000505.4(F12):c.1018+13G>C rs552424629 0.00239
NM_001378687.1(ATP2C1):c.*1545A>G rs372789446 0.00237
NM_003052.5(SLC34A1):c.*179G>A rs141664220 0.00237
NM_001378687.1(ATP2C1):c.*998C>T rs116671177 0.00231
NM_001366385.1(CARD14):c.1065C>T (p.Cys355=) rs140246774 0.00228
NM_000505.4(F12):c.-62C>T rs187018744 0.00223
NM_012275.3(IL36RN):c.6C>T (p.Val2=) rs28938771 0.00221
NM_001366385.1(CARD14):c.2335G>A (p.Ala779Thr) rs141913003 0.00220
NM_012275.3(IL36RN):c.*1866T>C rs72946731 0.00214
NM_001366385.1(CARD14):c.1806G>A (p.Ser602=) rs113127952 0.00193
NM_001366385.1(CARD14):c.2569+4T>C rs146678380 0.00181
NM_000301.5(PLG):c.1803-17C>A rs201530084 0.00180
NM_001366385.1(CARD14):c.329T>C (p.Val110Ala) rs138139140 0.00180
NM_001366385.1(CARD14):c.526G>C (p.Asp176His) rs144475004 0.00168
NM_000418.4(IL4R):c.1774G>T (p.Val592Leu) rs138392496 0.00156
NM_000062.3(SERPING1):c.1029+260G>A rs191053716 0.00155
NM_000301.5(PLG):c.1962G>T (p.Val654=) rs4252196 0.00147
NM_001366385.1(CARD14):c.1852-16C>T rs186883652 0.00139
NM_000062.3(SERPING1):c.468C>T (p.Ala156=) rs150601964 0.00138
NM_000374.4(UROD):c.-52C>A rs41269103 0.00136
NM_001366385.1(CARD14):c.796C>T (p.Arg266Cys) rs138616955 0.00128
NM_000062.3(SERPING1):c.167T>C (p.Val56Ala) rs11546660 0.00124
NM_012275.3(IL36RN):c.169G>A (p.Val57Ile) rs77864207 0.00124
NM_001039569.2(AP1S3):c.64A>G (p.Thr22Ala) rs149183052 0.00120
NM_001366385.1(CARD14):c.1090-15C>T rs377287985 0.00119
NM_013447.4(ADGRE2):c.457C>T (p.Leu153Phe) rs12976493 0.00118
NM_001366385.1(CARD14):c.2691+15G>A rs200394665 0.00111
NM_001146.5(ANGPT1):c.1151G>A (p.Arg384Gln) rs146465357 0.00109
NM_014382.4(ATP2C1):c.*1839A>G rs141516276 0.00108
NM_001366385.1(CARD14):c.1356+18G>A rs190983667 0.00107
NM_001378687.1(ATP2C1):c.1840-12G>A rs201666095 0.00106
NM_001366385.1(CARD14):c.449T>G (p.Leu150Arg) rs146214639 0.00104
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) rs146519482 0.00102
NM_003052.5(SLC34A1):c.*361T>C rs539754545 0.00096
NM_000062.3(SERPING1):c.5C>T (p.Ala2Val) rs185342631 0.00094
NM_000505.4(F12):c.1299C>T (p.Asn433=) rs17876033 0.00093
NM_000062.3(SERPING1):c.686-179A>G rs189335964 0.00091
NM_000062.3(SERPING1):c.849C>T (p.Ser283=) rs143760635 0.00090
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_000505.4(F12):c.1018+12G>C rs758462343 0.00082
NM_000505.4(F12):c.348C>A (p.Gly116=) rs140243617 0.00081
NM_012275.3(IL36RN):c.*581C>G rs28938779 0.00080
NM_000374.5(UROD):c.474+15G>C rs369108963 0.00076
NM_000505.4(F12):c.120C>T (p.Leu40=) rs149368999 0.00073
NM_000410.4(HFE):c.18G>C (p.Arg6Ser) rs149342416 0.00072
NM_012275.3(IL36RN):c.363G>A (p.Leu121=) rs151274071 0.00070
NM_001366385.1(CARD14):c.211+20C>T rs539713605 0.00069
NM_012275.3(IL36RN):c.*1849T>A rs554682838 0.00069
NM_001366385.1(CARD14):c.960G>A (p.Glu320=) rs144207494 0.00065
NM_001378687.1(ATP2C1):c.1570+9A>G rs199864073 0.00064
NM_000410.4(HFE):c.*603C>T rs62625353 0.00063
NM_000505.4(F12):c.1107G>C (p.Ser369=) rs141473119 0.00063
NM_001366385.1(CARD14):c.1518G>A (p.Pro506=) rs111586978 0.00056
NM_001366385.1(CARD14):c.589G>A (p.Glu197Lys) rs200790561 0.00056
NM_181078.3(IL21R):c.605C>T (p.Ala202Val) rs147673485 0.00055
NM_001366385.1(CARD14):c.1772C>T (p.Thr591Met) rs200102454 0.00054
NM_012275.3(IL36RN):c.*281G>A rs80220660 0.00054
NM_000062.3(SERPING1):c.142A>G (p.Thr48Ala) rs11546661 0.00049
NM_000062.3(SERPING1):c.465C>T (p.His155=) rs201627388 0.00049
NM_001366385.1(CARD14):c.1134C>G (p.Ser378Arg) rs150536049 0.00049
NM_000410.4(HFE):c.*198C>T rs544604880 0.00048
NM_000062.3(SERPING1):c.550+9C>G rs201294420 0.00046
NM_001146.5(ANGPT1):c.1110G>C (p.Gln370His) rs200226727 0.00046
NM_001378687.1(ATP2C1):c.585T>C (p.Cys195=) rs2760272 0.00045
NM_012275.3(IL36RN):c.136C>T (p.Pro46Ser) rs145099228 0.00041
NM_000301.5(PLG):c.514A>G (p.Arg172Gly) rs145535174 0.00039
NM_012275.3(IL36RN):c.115+15A>G rs200453384 0.00039
NM_001366385.1(CARD14):c.1659C>T (p.Ser553=) rs139274935 0.00036
NM_001366385.1(CARD14):c.1276C>T (p.Arg426Trp) rs201308755 0.00035
NM_001366385.1(CARD14):c.1385C>T (p.Thr462Met) rs368239982 0.00035
NM_001366385.1(CARD14):c.2140G>A (p.Gly714Ser) rs151150961 0.00035
NM_001366385.1(CARD14):c.1386G>A (p.Thr462=) rs146882682 0.00034
NM_012275.3(IL36RN):c.350C>T (p.Pro117Leu) rs141341649 0.00034
NM_000062.3(SERPING1):c.-36A>T rs761350979 0.00032
NM_000374.5(UROD):c.442C>T (p.Arg148Cys) rs147374926 0.00032
NM_000505.4(F12):c.-8C>T rs369991760 0.00032
NM_001366385.1(CARD14):c.1356+4C>T rs373428751 0.00031
NM_001366385.1(CARD14):c.1805C>T (p.Ser602Leu) rs201285077 0.00031
NM_001366385.1(CARD14):c.1829G>A (p.Arg610His) rs372001018 0.00031
NM_001366385.1(CARD14):c.2209A>C (p.Asn737His) rs535171797 0.00030
NM_000062.3(SERPING1):c.686-9T>C rs141593943 0.00029
NM_001366385.1(CARD14):c.964-18G>A rs201163546 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001366385.1(CARD14):c.2210A>G (p.Asn737Ser) rs138579421 0.00028
NM_000301.5(PLG):c.1735G>A (p.Gly579Arg) rs138728014 0.00027
NM_000374.5(UROD):c.774+12G>A rs186269864 0.00027
NM_001366385.1(CARD14):c.16C>T (p.Arg6Cys) rs559363898 0.00027
NM_001366385.1(CARD14):c.536G>A (p.Arg179His) rs199517469 0.00027
NM_001366385.1(CARD14):c.2403C>T (p.Ser801=) rs189286068 0.00026
NM_001366385.1(CARD14):c.27C>T (p.Ser9=) rs9895931 0.00026
NM_001366385.1(CARD14):c.1589C>T (p.Thr530Met) rs373004800 0.00025
NM_001366385.1(CARD14):c.2139C>T (p.Cys713=) rs142449734 0.00025
NM_001366385.1(CARD14):c.2190C>T (p.Ala730=) rs146968151 0.00025
NM_001366385.1(CARD14):c.2884C>T (p.Arg962Trp) rs768891477 0.00025
NM_001366385.1(CARD14):c.2956C>T (p.Arg986Cys) rs112478200 0.00025
NM_000062.3(SERPING1):c.*66T>C rs899262177 0.00024
NM_001366385.1(CARD14):c.1198C>T (p.Arg400Cys) rs144636413 0.00024
NM_001366385.1(CARD14):c.212-19G>A rs200725256 0.00024
NM_001366385.1(CARD14):c.1852-8G>A rs544120287 0.00023
NM_000062.3(SERPING1):c.686-5C>G rs28362952 0.00022
NM_000301.5(PLG):c.2134G>A (p.Gly712Arg) rs202074006 0.00022
NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp) rs375624435 0.00022
NM_000374.4(UROD):c.*80A>G rs144315045 0.00021
NM_001366385.1(CARD14):c.1090-10T>C rs778853453 0.00021
NM_001366385.1(CARD14):c.234G>T (p.Lys78Asn) rs143747620 0.00021
NM_012275.3(IL36RN):c.115+6T>C rs148755083 0.00021
NM_000374.5(UROD):c.390G>T (p.Glu130Asp) rs138585833 0.00020
NM_001366385.1(CARD14):c.1901C>T (p.Thr634Met) rs141847758 0.00020
NM_001366385.1(CARD14):c.2320G>A (p.Val774Ile) rs138833596 0.00020
NM_001366385.1(CARD14):c.1415G>A (p.Arg472His) rs377226624 0.00019
NM_001366385.1(CARD14):c.2773G>A (p.Val925Ile) rs372586928 0.00019
NM_001366385.1(CARD14):c.2807+10C>T rs368700533 0.00019
NM_001378687.1(ATP2C1):c.2439A>G (p.Thr813=) rs576648874 0.00019
NM_012275.3(IL36RN):c.*594T>C rs144995197 0.00019
NM_001366385.1(CARD14):c.1719G>A (p.Ala573=) rs144296948 0.00018
NM_001366385.1(CARD14):c.2476C>T (p.Arg826Trp) rs139467141 0.00018
NM_000062.3(SERPING1):c.-24G>C rs112290300 0.00016
NM_000062.3(SERPING1):c.1164G>A (p.Met388Ile) rs141529833 0.00016
NM_000301.5(PLG):c.317G>C (p.Gly106Ala) rs778599053 0.00016
NM_000374.4(UROD):c.-51T>C rs370067756 0.00016
NM_001366385.1(CARD14):c.1199G>A (p.Arg400His) rs147466598 0.00016
NM_001366385.1(CARD14):c.1728G>A (p.Gly576=) rs375480599 0.00016
NM_001378687.1(ATP2C1):c.1146A>G (p.Gln382=) rs141822193 0.00016
NM_000222.3(KIT):c.2502G>A (p.Lys834=) rs146992614 0.00014
NM_000301.5(PLG):c.36A>G (p.Leu12=) rs371469289 0.00014
NM_000505.4(F12):c.1387+4C>G rs761161412 0.00014
NM_001366385.1(CARD14):c.1091C>T (p.Ala364Val) rs141698692 0.00014
NM_001378687.1(ATP2C1):c.*176T>C rs752881753 0.00014
NM_001366385.1(CARD14):c.2354G>A (p.Arg785His) rs575328953 0.00013
NM_001366385.1(CARD14):c.683T>G (p.Leu228Arg) rs142246283 0.00013
NM_001366385.1(CARD14):c.881C>T (p.Ala294Val) rs139466192 0.00013
NM_012275.3(IL36RN):c.30-12C>T rs764444805 0.00013
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00012
NM_000505.4(F12):c.-3G>A rs201346142 0.00011
NM_001366385.1(CARD14):c.2483G>A (p.Arg828Gln) rs147592804 0.00011
NM_001366385.1(CARD14):c.35C>T (p.Thr12Met) rs569889639 0.00011
NM_001378687.1(ATP2C1):c.*1609A>C rs771461939 0.00011
NM_001378687.1(ATP2C1):c.2057+7T>A rs368071107 0.00011
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu) rs139497891 0.00011
NM_012275.3(IL36RN):c.451T>A (p.Phe151Ile) rs545202535 0.00011
NM_000062.2(SERPING1):c.-99C>G rs866115469 0.00010
NM_000301.5(PLG):c.1468C>A (p.Arg490=) rs367707054 0.00010
NM_000301.5(PLG):c.1997T>C (p.Ile666Thr) rs764647453 0.00010
NM_000374.5(UROD):c.158A>G (p.Gln53Arg) rs199597323 0.00010
NM_000374.5(UROD):c.745C>T (p.Arg249Trp) rs137978913 0.00010
NM_000505.4(F12):c.41T>C (p.Leu14Ser) rs143809932 0.00010
NM_001366385.1(CARD14):c.1370C>T (p.Ser457Leu) rs776782295 0.00010
NM_001366385.1(CARD14):c.1797C>A (p.Thr599=) rs530338890 0.00010
NM_001366385.1(CARD14):c.2094T>C (p.His698=) rs145420791 0.00010
NM_001366385.1(CARD14):c.2279G>A (p.Arg760His) rs143600438 0.00010
NM_001366385.1(CARD14):c.496C>T (p.Arg166Cys) rs751727290 0.00010
NM_001366385.1(CARD14):c.624G>A (p.Ala208=) rs372452466 0.00010
NM_001366385.1(CARD14):c.766G>A (p.Asp256Asn) rs144570537 0.00010
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) rs199565633 0.00010
NM_012275.3(IL36RN):c.142C>T (p.Arg48Trp) rs151325121 0.00010
NM_000062.3(SERPING1):c.997G>A (p.Ala333Thr) rs202192543 0.00009
NM_000301.5(PLG):c.2087G>A (p.Arg696Gln) rs147930532 0.00009
NM_000301.5(PLG):c.505C>A (p.Pro169Thr) rs143256245 0.00009
NM_001366385.1(CARD14):c.160G>A (p.Glu54Lys) rs755140319 0.00009
NM_001366385.1(CARD14):c.2836G>C (p.Glu946Gln) rs752281368 0.00009
NM_001366385.1(CARD14):c.2968G>A (p.Ala990Thr) rs575494155 0.00009
NM_001366385.1(CARD14):c.3006C>A (p.Ser1002Arg) rs984646773 0.00009
NM_001366385.1(CARD14):c.363A>G (p.Thr121=) rs772510822 0.00009
NM_001366385.1(CARD14):c.676-15C>T rs369763813 0.00009
NM_001378687.1(ATP2C1):c.593T>G (p.Val198Gly) rs764052498 0.00009
NM_012275.3(IL36RN):c.244-6C>T rs374849220 0.00009
NM_012275.3(IL36RN):c.308G>A (p.Arg103Gln) rs542606182 0.00009
NM_000301.5(PLG):c.115A>C (p.Lys39Gln) rs138353396 0.00008
NM_001366385.1(CARD14):c.1012A>G (p.Met338Val) rs200132496 0.00008
NM_001366385.1(CARD14):c.1090-18T>C rs372678467 0.00008
NM_001366385.1(CARD14):c.1477G>A (p.Gly493Arg) rs374847486 0.00008
NM_001366385.1(CARD14):c.1653G>A (p.Ser551=) rs369746581 0.00008
NM_001366385.1(CARD14):c.1808C>T (p.Ala603Val) rs776909422 0.00008
NM_001366385.1(CARD14):c.2315G>A (p.Arg772His) rs746635931 0.00008
NM_001366385.1(CARD14):c.720C>T (p.Ser240=) rs140720686 0.00008
NM_001378687.1(ATP2C1):c.*1573G>A rs997233440 0.00008
NM_000301.5(PLG):c.669-3C>G rs368764348 0.00007
NM_001366385.1(CARD14):c.1156C>T (p.Arg386Cys) rs746925458 0.00007
NM_001366385.1(CARD14):c.1288C>T (p.Arg430Trp) rs142895605 0.00007
NM_001366385.1(CARD14):c.1358C>G (p.Ser453Cys) rs199793195 0.00007
NM_001366385.1(CARD14):c.1755C>T (p.Val585=) rs528551025 0.00007
NM_001366385.1(CARD14):c.2038T>C (p.Tyr680His) rs760618098 0.00007
NM_001366385.1(CARD14):c.2784C>T (p.Asn928=) rs140536892 0.00007
NM_001366385.1(CARD14):c.345T>C (p.Phe115=) rs372257600 0.00007
NM_001366385.1(CARD14):c.746A>C (p.Gln249Pro) rs555281512 0.00007
NM_001366385.1(CARD14):c.936C>T (p.Ala312=) rs774862255 0.00007
NM_001378687.1(ATP2C1):c.2589G>A (p.Pro863=) rs751186032 0.00007
NM_012275.3(IL36RN):c.230C>T (p.Thr77Ile) rs372880215 0.00007
NM_012275.3(IL36RN):c.244-5G>A rs754661425 0.00007
NM_012275.3(IL36RN):c.307C>T (p.Arg103Trp) rs375207169 0.00007
NM_012275.3(IL36RN):c.436A>G (p.Ile146Val) rs202059991 0.00007
NM_181078.3(IL21R):c.1550G>A (p.Arg517Gln) rs761950657 0.00007
NM_181078.3(IL21R):c.995C>T (p.Thr332Met) rs761814669 0.00007
NM_000062.3(SERPING1):c.244A>T (p.Thr82Ser) rs147409450 0.00006
NM_000301.5(PLG):c.1722G>A (p.Pro574=) rs146030266 0.00006
NM_000301.5(PLG):c.646G>A (p.Ala216Thr) rs374234922 0.00006
NM_000374.5(UROD):c.*45C>T rs371078664 0.00006
NM_000374.5(UROD):c.27G>C (p.Gln9His) rs150027651 0.00006
NM_001366385.1(CARD14):c.1027T>C (p.Tyr343His) rs899554160 0.00006
NM_001366385.1(CARD14):c.1082G>A (p.Arg361Gln) rs763738345 0.00006
NM_001366385.1(CARD14):c.1178C>T (p.Thr393Met) rs149287760 0.00006
NM_001366385.1(CARD14):c.1313G>A (p.Cys438Tyr) rs533044405 0.00006
NM_001366385.1(CARD14):c.1342G>A (p.Val448Ile) rs760691842 0.00006
NM_001366385.1(CARD14):c.1356+5G>A rs376524884 0.00006
NM_001366385.1(CARD14):c.1395C>T (p.Arg465=) rs759000751 0.00006
NM_001366385.1(CARD14):c.1542G>A (p.Pro514=) rs61751631 0.00006
NM_001366385.1(CARD14):c.1832C>T (p.Pro611Leu) rs540396879 0.00006
NM_001366385.1(CARD14):c.1850T>C (p.Met617Thr) rs145521869 0.00006
NM_001366385.1(CARD14):c.1923G>C (p.Gly641=) rs931477418 0.00006
NM_001366385.1(CARD14):c.1977C>T (p.Asp659=) rs200737962 0.00006
NM_001366385.1(CARD14):c.1978+20C>T rs370551701 0.00006
NM_001366385.1(CARD14):c.2112C>T (p.His704=) rs751083330 0.00006
NM_001366385.1(CARD14):c.2422G>A (p.Glu808Lys) rs759612018 0.00006
NM_001366385.1(CARD14):c.2674G>C (p.Glu892Gln) rs770592418 0.00006
NM_001366385.1(CARD14):c.2871G>C (p.Glu957Asp) rs373510767 0.00006
NM_001366385.1(CARD14):c.545G>A (p.Arg182His) rs149514734 0.00006
NM_001366385.1(CARD14):c.681T>G (p.Tyr227Ter) rs369755459 0.00006
NM_001366385.1(CARD14):c.827C>A (p.Ser276Ter) rs149318654 0.00006
NM_001366385.1(CARD14):c.956G>A (p.Arg319Gln) rs138991161 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_012275.3(IL36RN):c.*6C>T rs189986394 0.00006
NM_012275.3(IL36RN):c.104A>G (p.Lys35Arg) rs187015338 0.00006
NM_012275.3(IL36RN):c.245C>T (p.Pro82Leu) rs144182857 0.00006
NM_012275.3(IL36RN):c.447C>T (p.Phe149=) rs201107219 0.00006
NM_173170.1(IL36RN):c.-27-318G>A rs759570472 0.00006
NM_000505.4(F12):c.1212C>G (p.Pro404=) rs756802257 0.00005
NM_001366385.1(CARD14):c.1396G>A (p.Glu466Lys) rs140734867 0.00005
NM_001366385.1(CARD14):c.1687C>T (p.Arg563Cys) rs560820008 0.00005
NM_001366385.1(CARD14):c.1705G>A (p.Val569Ile) rs199643115 0.00005
NM_001366385.1(CARD14):c.1739T>C (p.Leu580Pro) rs201897872 0.00005
NM_001366385.1(CARD14):c.1852-14C>T rs377407058 0.00005
NM_001366385.1(CARD14):c.1860C>T (p.Tyr620=) rs148265488 0.00005
NM_001366385.1(CARD14):c.212-17C>T rs752936293 0.00005
NM_001366385.1(CARD14):c.2192C>T (p.Ala731Val) rs147578051 0.00005
NM_001366385.1(CARD14):c.299A>G (p.Tyr100Cys) rs552779505 0.00005
NM_001366385.1(CARD14):c.646G>A (p.Ala216Thr) rs574982768 0.00005
NM_001366385.1(CARD14):c.652C>T (p.Arg218Cys) rs747854314 0.00005
NM_001366385.1(CARD14):c.676-17G>A rs201478315 0.00005
NM_001366385.1(CARD14):c.824G>A (p.Arg275His) rs117360605 0.00005
NM_001366385.1(CARD14):c.828G>A (p.Ser276=) rs150424747 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_012275.3(IL36RN):c.240A>G (p.Leu80=) rs148271084 0.00005
NM_000062.3(SERPING1):c.117C>G (p.Asp39Glu) rs11229062 0.00004
NM_000062.3(SERPING1):c.169G>A (p.Glu57Lys) rs752993036 0.00004
NM_000222.3(KIT):c.840G>C (p.Ala280=) rs142772432 0.00004
NM_000301.5(PLG):c.368C>T (p.Thr123Ile) rs370856655 0.00004
NM_000374.5(UROD):c.578G>A (p.Arg193His) rs143823335 0.00004
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000410.4(HFE):c.676C>T (p.Arg226Trp) rs781516027 0.00004
NM_000505.4(F12):c.129C>T (p.Thr43=) rs201546796 0.00004
NM_000505.4(F12):c.530C>T (p.Ala177Val) rs144821595 0.00004
NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys) rs757850683 0.00004
NM_001366385.1(CARD14):c.131G>A (p.Arg44His) rs746969281 0.00004
NM_001366385.1(CARD14):c.1499G>C (p.Ser500Thr) rs369200145 0.00004
NM_001366385.1(CARD14):c.1601C>T (p.Pro534Leu) rs754219698 0.00004
NM_001366385.1(CARD14):c.1652C>T (p.Ser551Leu) rs201449588 0.00004
NM_001366385.1(CARD14):c.1659-10C>T rs773622446 0.00004
NM_001366385.1(CARD14):c.1758C>T (p.Ile586=) rs143677083 0.00004
NM_001366385.1(CARD14):c.1962G>A (p.Val654=) rs747461948 0.00004
NM_001366385.1(CARD14):c.203T>C (p.Met68Thr) rs773633754 0.00004
NM_001366385.1(CARD14):c.2158C>T (p.Arg720Cys) rs772710307 0.00004
NM_001366385.1(CARD14):c.2219+13C>T rs759246881 0.00004
NM_001366385.1(CARD14):c.2284-20T>C rs774816663 0.00004
NM_001366385.1(CARD14):c.2421C>T (p.Ala807=) rs770965110 0.00004
NM_001366385.1(CARD14):c.2569+2T>A rs746981190 0.00004
NM_001366385.1(CARD14):c.2640C>T (p.Ser880=) rs367654497 0.00004
NM_001366385.1(CARD14):c.2713G>A (p.Val905Ile) rs375006162 0.00004
NM_001366385.1(CARD14):c.2735C>G (p.Thr912Ser) rs201965466 0.00004
NM_001366385.1(CARD14):c.2889G>A (p.Ala963=) rs761925557 0.00004
NM_001366385.1(CARD14):c.294C>T (p.Asp98=) rs757364434 0.00004
NM_001366385.1(CARD14):c.3011G>A (p.Arg1004Gln) rs370758101 0.00004
NM_001366385.1(CARD14):c.433C>A (p.Gln145Lys) rs781101097 0.00004
NM_001366385.1(CARD14):c.451C>T (p.Arg151Trp) rs777305616 0.00004
NM_001366385.1(CARD14):c.45C>T (p.Asp15=) rs768959428 0.00004
NM_001366385.1(CARD14):c.489C>T (p.Ala163=) rs763075002 0.00004
NM_001366385.1(CARD14):c.544C>T (p.Arg182Cys) rs372403419 0.00004
NM_001366385.1(CARD14):c.588C>T (p.Asp196=) rs548686087 0.00004
NM_001366385.1(CARD14):c.694G>A (p.Glu232Lys) rs200837077 0.00004
NM_001366385.1(CARD14):c.843+10G>A rs367767898 0.00004
NM_001366385.1(CARD14):c.911G>A (p.Arg304His) rs1380449564 0.00004
NM_001366385.1(CARD14):c.937G>A (p.Val313Met) rs759854664 0.00004
NM_001366385.1(CARD14):c.95G>A (p.Arg32His) rs919076101 0.00004
NM_001378687.1(ATP2C1):c.*127A>G rs767826698 0.00004
NM_001378687.1(ATP2C1):c.*1604T>C rs1259901914 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_012275.3(IL36RN):c.*1540G>A rs886054770 0.00004
NM_012275.3(IL36RN):c.302A>T (p.Tyr101Phe) rs769214649 0.00004
NM_012275.3(IL36RN):c.306G>A (p.Arg102=) rs143557954 0.00004
NM_012275.3(IL36RN):c.349C>G (p.Pro117Ala) rs780273771 0.00004
NM_012275.3(IL36RN):c.351G>A (p.Pro117=) rs202161658 0.00004
NM_000062.3(SERPING1):c.352A>G (p.Thr118Ala) rs200534715 0.00003
NM_000301.5(PLG):c.1394C>T (p.Pro465Leu) rs374995543 0.00003
NM_000374.5(UROD):c.636+1G>C rs145195562 0.00003
NM_000374.5(UROD):c.842G>T (p.Gly281Val) rs121918057 0.00003
NM_000505.4(F12):c.1018+14G>T rs779057710 0.00003
NM_000505.4(F12):c.1251-12C>A rs747726864 0.00003
NM_000505.4(F12):c.1704G>A (p.Val568=) rs536390950 0.00003
NM_000505.4(F12):c.630C>T (p.Asp210=) rs886060471 0.00003
NM_000505.4(F12):c.928A>T (p.Arg310Trp) rs749549919 0.00003
NM_001366385.1(CARD14):c.1046C>T (p.Ala349Val) rs770212092 0.00003
NM_001366385.1(CARD14):c.1047G>A (p.Ala349=) rs773361370 0.00003
NM_001366385.1(CARD14):c.1098C>T (p.Ser366=) rs749480979 0.00003
NM_001366385.1(CARD14):c.1100C>T (p.Ala367Val) rs549747651 0.00003
NM_001366385.1(CARD14):c.1179G>A (p.Thr393=) rs539249557 0.00003
NM_001366385.1(CARD14):c.1188C>G (p.Val396=) rs147432650 0.00003
NM_001366385.1(CARD14):c.1232C>T (p.Pro411Leu) rs564433759 0.00003
NM_001366385.1(CARD14):c.1233G>A (p.Pro411=) rs769603509 0.00003
NM_001366385.1(CARD14):c.1356+8C>T rs768022029 0.00003
NM_001366385.1(CARD14):c.1356+9G>A rs753179047 0.00003
NM_001366385.1(CARD14):c.1380T>A (p.Ser460Arg) rs766077998 0.00003
NM_001366385.1(CARD14):c.1393C>T (p.Arg465Cys) rs777303119 0.00003
NM_001366385.1(CARD14):c.1394G>A (p.Arg465His) rs746351148 0.00003
NM_001366385.1(CARD14):c.1428C>T (p.Pro476=) rs368432283 0.00003
NM_001366385.1(CARD14):c.1431G>A (p.Ala477=) rs564427787 0.00003
NM_001366385.1(CARD14):c.1460G>A (p.Arg487Gln) rs531888447 0.00003
NM_001366385.1(CARD14):c.1468G>A (p.Glu490Lys) rs372805579 0.00003
NM_001366385.1(CARD14):c.1773G>A (p.Thr591=) rs140661251 0.00003
NM_001366385.1(CARD14):c.1827G>A (p.Leu609=) rs200102317 0.00003
NM_001366385.1(CARD14):c.1851+8G>A rs770747080 0.00003
NM_001366385.1(CARD14):c.206G>A (p.Arg69Gln) rs369726105 0.00003
NM_001366385.1(CARD14):c.2101G>A (p.Glu701Lys) rs984278499 0.00003
NM_001366385.1(CARD14):c.210C>T (p.Ala70=) rs577286599 0.00003
NM_001366385.1(CARD14):c.211+7G>A rs770895364 0.00003
NM_001366385.1(CARD14):c.2113G>A (p.Val705Ile) rs148788573 0.00003
NM_001366385.1(CARD14):c.2159G>A (p.Arg720His) rs202094920 0.00003
NM_001366385.1(CARD14):c.2220-3C>T rs1261633223 0.00003
NM_001366385.1(CARD14):c.2398+14A>C rs573376427 0.00003
NM_001366385.1(CARD14):c.2399-3C>T rs376922603 0.00003
NM_001366385.1(CARD14):c.2691+14C>T rs372429076 0.00003
NM_001366385.1(CARD14):c.2775C>T (p.Val925=) rs372790630 0.00003
NM_001366385.1(CARD14):c.2808-19_2808-18insA rs763555855 0.00003
NM_001366385.1(CARD14):c.3010C>T (p.Arg1004Ter) rs781476504 0.00003
NM_001366385.1(CARD14):c.653G>A (p.Arg218His) rs1055308466 0.00003
NM_001366385.1(CARD14):c.7G>A (p.Glu3Lys) rs754460458 0.00003
NM_001366385.1(CARD14):c.80G>A (p.Arg27His) rs963268943 0.00003
NM_001366385.1(CARD14):c.925C>A (p.Arg309=) rs371741250 0.00003
NM_001366385.1(CARD14):c.963+6G>A rs376630011 0.00003
NM_001366385.1(CARD14):c.996G>A (p.Gln332=) rs1344638654 0.00003
NM_001378687.1(ATP2C1):c.-90G>C rs1281629898 0.00003
NM_012275.3(IL36RN):c.*1844A>G rs776033400 0.00003
NM_012275.3(IL36RN):c.*185C>T rs3207837 0.00003
NM_012275.3(IL36RN):c.*883T>C rs1044606674 0.00003
NM_012275.3(IL36RN):c.115+5G>A rs772037773 0.00003
NM_012275.3(IL36RN):c.115+7G>A rs760803052 0.00003
NM_012275.3(IL36RN):c.130G>A (p.Val44Met) rs776622427 0.00003
NM_012275.3(IL36RN):c.168C>T (p.Pro56=) rs549588385 0.00003
NM_012275.3(IL36RN):c.188G>T (p.Gly63Val) rs746941547 0.00003
NM_012275.3(IL36RN):c.244-15C>T rs749973247 0.00003
NM_012275.3(IL36RN):c.334G>A (p.Glu112Lys) rs143724424 0.00003
NM_000062.3(SERPING1):c.1030-1513del rs1184255008 0.00002
NM_000062.3(SERPING1):c.1434C>T (p.Leu478=) rs768058061 0.00002
NM_000062.3(SERPING1):c.227C>T (p.Thr76Ile) rs182779591 0.00002
NM_000062.3(SERPING1):c.981C>T (p.Ser327=) rs1433680488 0.00002
NM_000222.3(KIT):c.2866C>T (p.Arg956Trp) rs587778433 0.00002
NM_000301.5(PLG):c.17T>C (p.Val6Ala) rs764121149 0.00002
NM_000374.4(UROD):c.-67G>A rs767012968 0.00002
NM_000410.4(HFE):c.546_547del (p.Leu183fs) rs765804978 0.00002
NM_001039569.2(AP1S3):c.248T>C (p.Ile83Thr) rs202157374 0.00002
NM_001366385.1(CARD14):c.1092G>A (p.Ala364=) rs373435882 0.00002
NM_001366385.1(CARD14):c.1356+17C>T rs1464954077 0.00002
NM_001366385.1(CARD14):c.1430C>T (p.Ala477Val) rs546212263 0.00002
NM_001366385.1(CARD14):c.1529C>T (p.Pro510Leu) rs756350753 0.00002
NM_001366385.1(CARD14):c.1588A>G (p.Thr530Ala) rs764792856 0.00002
NM_001366385.1(CARD14):c.1593A>G (p.Ala531=) rs143761306 0.00002
NM_001366385.1(CARD14):c.1659-9G>A rs536853489 0.00002
NM_001366385.1(CARD14):c.1673G>A (p.Arg558Gln) rs745339472 0.00002
NM_001366385.1(CARD14):c.1718C>T (p.Ala573Val) rs759855222 0.00002
NM_001366385.1(CARD14):c.1790G>A (p.Arg597Gln) rs201920372 0.00002
NM_001366385.1(CARD14):c.1836C>T (p.Gly612=) rs758753920 0.00002
NM_001366385.1(CARD14):c.1851+11C>T rs759126721 0.00002
NM_001366385.1(CARD14):c.1918G>A (p.Val640Met) rs751439750 0.00002
NM_001366385.1(CARD14):c.1919T>C (p.Val640Ala) rs1045262635 0.00002
NM_001366385.1(CARD14):c.1945T>A (p.Phe649Ile) rs954284352 0.00002
NM_001366385.1(CARD14):c.1960G>C (p.Val654Leu) rs778539318 0.00002
NM_001366385.1(CARD14):c.198C>T (p.Ser66=) rs1254076623 0.00002
NM_001366385.1(CARD14):c.1998G>A (p.Gln666=) rs142087113 0.00002
NM_001366385.1(CARD14):c.212-16G>A rs777801068 0.00002
NM_001366385.1(CARD14):c.2194C>T (p.His732Tyr) rs560027976 0.00002
NM_001366385.1(CARD14):c.2201C>T (p.Thr734Ile) rs371296759 0.00002
NM_001366385.1(CARD14):c.2219+16G>A rs762319448 0.00002
NM_001366385.1(CARD14):c.2278C>T (p.Arg760Cys) rs563350773 0.00002
NM_001366385.1(CARD14):c.2307G>A (p.Lys769=) rs778848984 0.00002
NM_001366385.1(CARD14):c.2457G>A (p.Val819=) rs763834649 0.00002
NM_001366385.1(CARD14):c.2468G>A (p.Arg823Gln) rs781479850 0.00002
NM_001366385.1(CARD14):c.2526C>T (p.Ser842=) rs755430374 0.00002
NM_001366385.1(CARD14):c.2606A>G (p.Gln869Arg) rs529691290 0.00002
NM_001366385.1(CARD14):c.2641G>A (p.Gly881Arg) rs548495951 0.00002
NM_001366385.1(CARD14):c.2692-17C>T rs1373202027 0.00002
NM_001366385.1(CARD14):c.288C>T (p.Asn96=) rs753859758 0.00002
NM_001366385.1(CARD14):c.2994G>A (p.Trp998Ter) rs758865360 0.00002
NM_001366385.1(CARD14):c.454C>T (p.Arg152Trp) rs780493135 0.00002
NM_001366385.1(CARD14):c.556G>A (p.Ala186Thr) rs190213582 0.00002
NM_001366385.1(CARD14):c.606G>A (p.Ser202=) rs763777809 0.00002
NM_001366385.1(CARD14):c.615T>C (p.Tyr205=) rs1042724807 0.00002
NM_001366385.1(CARD14):c.778G>A (p.Gly260Arg) rs772988369 0.00002
NM_001366385.1(CARD14):c.789G>A (p.Glu263=) rs770433643 0.00002
NM_001366385.1(CARD14):c.823C>T (p.Arg275Cys) rs752302933 0.00002
NM_001366385.1(CARD14):c.920C>T (p.Ser307Leu) rs764211577 0.00002
NM_001378687.1(ATP2C1):c.*1214A>G rs886057990 0.00002
NM_001378687.1(ATP2C1):c.*856G>A rs1267244925 0.00002
NM_012275.3(IL36RN):c.244-13C>T rs762586699 0.00002
NM_012275.3(IL36RN):c.248T>A (p.Val83Glu) rs886054767 0.00002
NM_012275.3(IL36RN):c.29G>A (p.Arg10Gln) rs752880718 0.00002
NM_012275.3(IL36RN):c.80T>C (p.Leu27Pro) rs387906914 0.00002
NM_012275.3(IL36RN):c.8T>C (p.Leu3Pro) rs766403906 0.00002
NM_000062.2(SERPING1):c.-94C>G rs1190911080 0.00001
NM_000062.3(SERPING1):c.100C>A (p.Pro34Thr) rs781444611 0.00001
NM_000062.3(SERPING1):c.1198C>T (p.Arg400Cys) rs201363394 0.00001
NM_000062.3(SERPING1):c.1250-154C>G rs879810971 0.00001
NM_000062.3(SERPING1):c.135C>T (p.Val45=) rs886048399 0.00001
NM_000062.3(SERPING1):c.285C>A (p.Thr95=) rs886048400 0.00001
NM_000062.3(SERPING1):c.330A>G (p.Pro110=) rs1371887844 0.00001
NM_000062.3(SERPING1):c.686-1335T>A rs1156278971 0.00001
NM_000062.3(SERPING1):c.721C>T (p.Arg241Trp) rs145436911 0.00001
NM_000222.3(KIT):c.531C>T (p.Arg177=) rs756722358 0.00001
NM_000301.5(PLG):c.988A>G (p.Lys330Glu) rs889957249 0.00001
NM_000374.5(UROD):c.138T>A (p.Phe46Leu) rs769378741 0.00001
NM_000374.5(UROD):c.346C>T (p.Gln116Ter) rs397514765 0.00001
NM_000374.5(UROD):c.494T>G (p.Met165Arg) rs121918063 0.00001
NM_000374.5(UROD):c.561T>C (p.Ala187=) rs780519904 0.00001
NM_000374.5(UROD):c.616C>T (p.Gln206Ter) rs771824413 0.00001
NM_000374.5(UROD):c.679C>G (p.Gln227Glu) rs546150911 0.00001
NM_000374.5(UROD):c.738C>T (p.Ala246=) rs757178659 0.00001
NM_000374.5(UROD):c.912C>A (p.Asn304Lys) rs121918065 0.00001
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys) rs121918061 0.00001
NM_000410.4(HFE):c.766G>A (p.Val256Ile) rs202068193 0.00001
NM_000505.4(F12):c.*86C>T rs777897437 0.00001
NM_000505.4(F12):c.*9G>A rs1763150862 0.00001
NM_000505.4(F12):c.158A>G (p.Tyr53Cys) rs118204455 0.00001
NM_000505.4(F12):c.1599A>G (p.Ser533=) rs1424350386 0.00001
NM_000505.4(F12):c.293G>A (p.Cys98Tyr) rs770412757 0.00001
NM_000505.4(F12):c.30G>A (p.Leu10=) rs745617919 0.00001
NM_001009606.4(HS3ST6):c.430A>T (p.Thr144Ser) rs746467957 0.00001
NM_001146.5(ANGPT1):c.355G>T (p.Ala119Ser) rs764987358 0.00001
NM_001366385.1(CARD14):c.1023A>G (p.Gln341=) rs768931223 0.00001
NM_001366385.1(CARD14):c.1077G>A (p.Lys359=) rs147977852 0.00001
NM_001366385.1(CARD14):c.1089+14C>T rs112731096 0.00001
NM_001366385.1(CARD14):c.1089+5C>G rs370288507 0.00001
NM_001366385.1(CARD14):c.112C>T (p.Arg38Cys) rs281875217 0.00001
NM_001366385.1(CARD14):c.1138G>C (p.Val380Leu) rs995633166 0.00001
NM_001366385.1(CARD14):c.113G>A (p.Arg38His) rs371643272 0.00001
NM_001366385.1(CARD14):c.1182C>T (p.Asp394=) rs761260235 0.00001
NM_001366385.1(CARD14):c.1227G>A (p.Glu409=) rs373415766 0.00001
NM_001366385.1(CARD14):c.1239+12C>T rs770558404 0.00001
NM_001366385.1(CARD14):c.1270T>C (p.Cys424Arg) rs567958673 0.00001
NM_001366385.1(CARD14):c.1277G>A (p.Arg426Gln) rs199537188 0.00001
NM_001366385.1(CARD14):c.1308C>T (p.Ala436=) rs771904594 0.00001
NM_001366385.1(CARD14):c.130C>T (p.Arg44Cys) rs374690955 0.00001
NM_001366385.1(CARD14):c.1326C>G (p.Asp442Glu) rs1276220070 0.00001
NM_001366385.1(CARD14):c.1330G>A (p.Asp444Asn) rs774755867 0.00001
NM_001366385.1(CARD14):c.1340T>C (p.Leu447Pro) rs767733432 0.00001
NM_001366385.1(CARD14):c.1341C>T (p.Leu447=) rs752765870 0.00001
NM_001366385.1(CARD14):c.1350C>T (p.Ser450=) rs1344416829 0.00001
NM_001366385.1(CARD14):c.1414C>T (p.Arg472Cys) rs145876317 0.00001
NM_001366385.1(CARD14):c.1471G>A (p.Asp491Asn) rs149030007 0.00001
NM_001366385.1(CARD14):c.1603C>T (p.Gln535Ter) rs202166921 0.00001
NM_001366385.1(CARD14):c.1631C>T (p.Ser544Phe) rs577482241 0.00001
NM_001366385.1(CARD14):c.1658+5G>A rs1251749882 0.00001
NM_001366385.1(CARD14):c.1659-15T>C rs1186577956 0.00001
NM_001366385.1(CARD14):c.1659-16G>A rs200191988 0.00001
NM_001366385.1(CARD14):c.1663G>A (p.Val555Ile) rs756136709 0.00001
NM_001366385.1(CARD14):c.1700G>A (p.Ser567Asn) rs370687430 0.00001
NM_001366385.1(CARD14):c.1752C>T (p.Ser584=) rs749835577 0.00001
NM_001366385.1(CARD14):c.1759G>A (p.Gly587Ser) rs146855402 0.00001
NM_001366385.1(CARD14):c.1778T>A (p.Ile593Asn) rs281875220 0.00001
NM_001366385.1(CARD14):c.1799C>T (p.Pro600Leu) rs746260783 0.00001
NM_001366385.1(CARD14):c.1809G>A (p.Ala603=) rs761836544 0.00001
NM_001366385.1(CARD14):c.1811C>T (p.Ala604Val) rs745532378 0.00001
NM_001366385.1(CARD14):c.1822G>A (p.Ala608Thr) rs762839447 0.00001
NM_001366385.1(CARD14):c.1828C>T (p.Arg610Cys) rs371910172 0.00001
NM_001366385.1(CARD14):c.1851+10G>A rs141266944 0.00001
NM_001366385.1(CARD14):c.1851+16C>T rs146951890 0.00001
NM_001366385.1(CARD14):c.1861G>A (p.Glu621Lys) rs979100899 0.00001
NM_001366385.1(CARD14):c.1902G>A (p.Thr634=) rs1003951860 0.00001
NM_001366385.1(CARD14):c.1927C>T (p.Leu643Phe) rs767152556 0.00001
NM_001366385.1(CARD14):c.1938G>A (p.Val646=) rs1255773294 0.00001
NM_001366385.1(CARD14):c.1939G>C (p.Asp647His) rs1225307467 0.00001
NM_001366385.1(CARD14):c.1941C>T (p.Asp647=) rs777602482 0.00001
NM_001366385.1(CARD14):c.1942G>A (p.Gly648Ser) rs748993106 0.00001
NM_001366385.1(CARD14):c.1973C>T (p.Thr658Met) rs769208715 0.00001
NM_001366385.1(CARD14):c.1974G>A (p.Thr658=) rs776920670 0.00001
NM_001366385.1(CARD14):c.2018C>T (p.Ala673Val) rs753197925 0.00001
NM_001366385.1(CARD14):c.2019G>A (p.Ala673=) rs1024202736 0.00001
NM_001366385.1(CARD14):c.2025G>A (p.Ser675=) rs778055809 0.00001
NM_001366385.1(CARD14):c.2064G>A (p.Glu688=) rs1598696214 0.00001
NM_001366385.1(CARD14):c.2118C>T (p.Thr706=) rs539561719 0.00001
NM_001366385.1(CARD14):c.2119G>A (p.Asp707Asn) rs757622443 0.00001
NM_001366385.1(CARD14):c.211G>A (p.Gly71Arg) rs895516485 0.00001
NM_001366385.1(CARD14):c.2160C>T (p.Arg720=) rs776598351 0.00001
NM_001366385.1(CARD14):c.2161G>A (p.Val721Met) rs748083207 0.00001
NM_001366385.1(CARD14):c.2191G>A (p.Ala731Thr) rs537086902 0.00001
NM_001366385.1(CARD14):c.2196C>T (p.His732=) rs758642695 0.00001
NM_001366385.1(CARD14):c.2204T>G (p.Ile735Ser) rs781185886 0.00001
NM_001366385.1(CARD14):c.2257A>G (p.Thr753Ala) rs528408567 0.00001
NM_001366385.1(CARD14):c.2274G>A (p.Val758=) rs777889815 0.00001
NM_001366385.1(CARD14):c.2284-11C>T rs767976234 0.00001
NM_001366385.1(CARD14):c.2314C>T (p.Arg772Cys) rs577478029 0.00001
NM_001366385.1(CARD14):c.2352G>A (p.Leu784=) rs1037309214 0.00001
NM_001366385.1(CARD14):c.2353C>T (p.Arg785Cys) rs146332779 0.00001
NM_001366385.1(CARD14):c.236C>T (p.Thr79Ile) rs760384971 0.00001
NM_001366385.1(CARD14):c.2388C>A (p.Ser796Arg) rs781104146 0.00001
NM_001366385.1(CARD14):c.239G>A (p.Arg80Gln) rs1598636867 0.00001
NM_001366385.1(CARD14):c.2408C>T (p.Thr803Met) rs748305221 0.00001
NM_001366385.1(CARD14):c.2424G>A (p.Glu808=) rs767351855 0.00001
NM_001366385.1(CARD14):c.2473G>A (p.Ala825Thr) rs538251591 0.00001
NM_001366385.1(CARD14):c.2489T>C (p.Val830Ala) rs772155622 0.00001
NM_001366385.1(CARD14):c.2508G>A (p.Ala836=) rs143179499 0.00001
NM_001366385.1(CARD14):c.250G>A (p.Gly84Arg) rs193262780 0.00001
NM_001366385.1(CARD14):c.2517G>C (p.Lys839Asn) rs950950885 0.00001
NM_001366385.1(CARD14):c.2527G>A (p.Glu843Lys) rs768044758 0.00001
NM_001366385.1(CARD14):c.2535G>A (p.Leu845=) rs1193362044 0.00001
NM_001366385.1(CARD14):c.2544C>T (p.Leu848=) rs1171320109 0.00001
NM_001366385.1(CARD14):c.2570-1G>C rs768494068 0.00001
NM_001366385.1(CARD14):c.2570-4G>A rs746900548 0.00001
NM_001366385.1(CARD14):c.2579G>T (p.Ser860Ile) rs865872056 0.00001
NM_001366385.1(CARD14):c.258C>T (p.Ile86=) rs147122239 0.00001
NM_001366385.1(CARD14):c.2619C>T (p.Ile873=) rs1350847074 0.00001
NM_001366385.1(CARD14):c.2638T>C (p.Ser880Pro) rs754405150 0.00001
NM_001366385.1(CARD14):c.2645G>A (p.Gly882Asp) rs964442846 0.00001
NM_001366385.1(CARD14):c.2662C>T (p.Arg888Cys) rs201390554 0.00001
NM_001366385.1(CARD14):c.2684T>C (p.Met895Thr) rs773869052 0.00001
NM_001366385.1(CARD14):c.2692-19T>C rs1292977579 0.00001
NM_001366385.1(CARD14):c.2694C>T (p.Asn898=) rs1045266295 0.00001
NM_001366385.1(CARD14):c.2725A>G (p.Ser909Gly) rs748610851 0.00001
NM_001366385.1(CARD14):c.2742C>G (p.His914Gln) rs759807969 0.00001
NM_001366385.1(CARD14):c.2764G>A (p.Val922Ile) rs763985273 0.00001
NM_001366385.1(CARD14):c.2792T>A (p.Met931Lys) rs773835416 0.00001
NM_001366385.1(CARD14):c.2800A>C (p.Lys934Gln) rs2041361762 0.00001
NM_001366385.1(CARD14):c.2808-18C>G rs910909016 0.00001
NM_001366385.1(CARD14):c.2821C>T (p.Arg941Trp) rs1410862007 0.00001
NM_001366385.1(CARD14):c.2841G>A (p.Glu947=) rs201650186 0.00001
NM_001366385.1(CARD14):c.2858C>T (p.Ala953Val) rs370106410 0.00001
NM_001366385.1(CARD14):c.2869G>A (p.Glu957Lys) rs1240011102 0.00001
NM_001366385.1(CARD14):c.2920G>A (p.Gly974Ser) rs767247623 0.00001
NM_001366385.1(CARD14):c.2937C>T (p.Asp979=) rs957038309 0.00001
NM_001366385.1(CARD14):c.2938G>A (p.Gly980Ser) rs750872801 0.00001
NM_001366385.1(CARD14):c.2945T>A (p.Leu982His) rs1010404596 0.00001
NM_001366385.1(CARD14):c.2971G>A (p.Asp991Asn) rs377543184 0.00001
NM_001366385.1(CARD14):c.2973C>T (p.Asp991=) rs554956821 0.00001
NM_001366385.1(CARD14):c.2996C>T (p.Thr999Met) rs534845615 0.00001
NM_001366385.1(CARD14):c.312C>T (p.Thr104=) rs768362011 0.00001
NM_001366385.1(CARD14):c.348C>T (p.Ser116=) rs775819149 0.00001
NM_001366385.1(CARD14):c.349G>A (p.Gly117Ser) rs281875215 0.00001
NM_001366385.1(CARD14):c.350-13C>T rs769371062 0.00001
NM_001366385.1(CARD14):c.350-4A>G rs748808582 0.00001
NM_001366385.1(CARD14):c.375C>T (p.Thr125=) rs775982786 0.00001
NM_001366385.1(CARD14):c.396C>T (p.Ile132=) rs762068444 0.00001
NM_001366385.1(CARD14):c.462G>A (p.Gln154=) rs961291968 0.00001
NM_001366385.1(CARD14):c.463C>T (p.Gln155Ter) rs777053396 0.00001
NM_001366385.1(CARD14):c.471G>A (p.Gln157=) rs762093764 0.00001
NM_001366385.1(CARD14):c.478C>G (p.Leu160Val) rs769988602 0.00001
NM_001366385.1(CARD14):c.504G>A (p.Glu168=) rs1176461425 0.00001
NM_001366385.1(CARD14):c.529C>A (p.His177Asn) rs1357558018 0.00001
NM_001366385.1(CARD14):c.535C>T (p.Arg179Cys) rs753456472 0.00001
NM_001366385.1(CARD14):c.555C>T (p.Ser185=) rs375489258 0.00001
NM_001366385.1(CARD14):c.570G>A (p.Glu190=) rs955758766 0.00001
NM_001366385.1(CARD14):c.571G>T (p.Val191Leu) rs281875218 0.00001
NM_001366385.1(CARD14):c.605C>T (p.Ser202Leu) rs749136532 0.00001
NM_001366385.1(CARD14):c.670G>A (p.Glu224Lys) rs1255334150 0.00001
NM_001366385.1(CARD14):c.676-10C>G rs372114482 0.00001
NM_001366385.1(CARD14):c.676-4A>T rs200596848 0.00001
NM_001366385.1(CARD14):c.676-9A>G rs775431566 0.00001
NM_001366385.1(CARD14):c.734A>G (p.Glu245Gly) rs2040414785 0.00001
NM_001366385.1(CARD14):c.758C>T (p.Thr253Ile) rs780324929 0.00001
NM_001366385.1(CARD14):c.765C>T (p.Ser255=) rs781292154 0.00001
NM_001366385.1(CARD14):c.777C>T (p.Ser259=) rs769783308 0.00001
NM_001366385.1(CARD14):c.842T>A (p.Leu281Gln) rs781238013 0.00001
NM_001366385.1(CARD14):c.864G>A (p.Glu288=) rs371000277 0.00001
NM_001366385.1(CARD14):c.86G>A (p.Arg29Lys) rs934542227 0.00001
NM_001366385.1(CARD14):c.877G>A (p.Glu293Lys) rs775291378 0.00001
NM_001366385.1(CARD14):c.892C>T (p.Arg298Ter) rs772958714 0.00001
NM_001366385.1(CARD14):c.90C>T (p.Ile30=) rs549347508 0.00001
NM_001366385.1(CARD14):c.90del (p.Ile30fs) rs1457318028 0.00001
NM_001366385.1(CARD14):c.91G>A (p.Val31Ile) rs772077307 0.00001
NM_001366385.1(CARD14):c.922C>T (p.Leu308=) rs537507973 0.00001
NM_001366385.1(CARD14):c.923T>C (p.Leu308Pro) rs778718425 0.00001
NM_001366385.1(CARD14):c.930G>A (p.Glu310=) rs768254910 0.00001
NM_001366385.1(CARD14):c.932G>A (p.Arg311Gln) rs771413361 0.00001
NM_001366385.1(CARD14):c.946G>A (p.Glu316Lys) rs374933789 0.00001
NM_001366385.1(CARD14):c.94C>T (p.Arg32Cys) rs895639722 0.00001
NM_001366385.1(CARD14):c.963+5C>T rs779986122 0.00001
NM_001366385.1(CARD14):c.9A>G (p.Glu3=) rs766915675 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_012275.3(IL36RN):c.*1244A>G rs1685693942 0.00001
NM_012275.3(IL36RN):c.*1258C>A rs147788845 0.00001
NM_012275.3(IL36RN):c.*1585A>G rs886054771 0.00001
NM_012275.3(IL36RN):c.*1891G>A rs1330509196 0.00001
NM_012275.3(IL36RN):c.*426G>T rs1165763738 0.00001
NM_012275.3(IL36RN):c.-28+1G>A rs1440056356 0.00001
NM_012275.3(IL36RN):c.102G>A (p.Gly34=) rs941319736 0.00001
NM_012275.3(IL36RN):c.139A>G (p.Asn47Asp) rs1685654399 0.00001
NM_012275.3(IL36RN):c.194G>A (p.Ser65Asn) rs781328070 0.00001
NM_012275.3(IL36RN):c.200G>T (p.Cys67Phe) rs1265230096 0.00001
NM_012275.3(IL36RN):c.228G>A (p.Pro76=) rs774906497 0.00001
NM_012275.3(IL36RN):c.277A>G (p.Lys93Glu) rs746109701 0.00001
NM_012275.3(IL36RN):c.28C>T (p.Arg10Ter) rs397514630 0.00001
NM_012275.3(IL36RN):c.29+1G>A rs1489262806 0.00001
NM_012275.3(IL36RN):c.291C>T (p.Ser97=) rs1573387667 0.00001
NM_012275.3(IL36RN):c.304C>T (p.Arg102Trp) rs199932303 0.00001
NM_012275.3(IL36RN):c.317G>C (p.Gly106Ala) rs144420774 0.00001
NM_012275.3(IL36RN):c.333C>T (p.Phe111=) rs199824136 0.00001
NM_012275.3(IL36RN):c.335dup (p.Ser113fs) rs758050726 0.00001
NM_012275.3(IL36RN):c.368C>T (p.Thr123Met) rs397514629 0.00001
NM_012275.3(IL36RN):c.375T>C (p.Pro125=) rs775413713 0.00001
NM_012275.3(IL36RN):c.381C>T (p.Ala127=) rs760489144 0.00001
NM_012275.3(IL36RN):c.386A>G (p.Gln129Arg) rs377330697 0.00001
NM_012275.3(IL36RN):c.411C>T (p.Pro137=) rs765211863 0.00001
NM_012275.3(IL36RN):c.458A>G (p.Gln153Arg) rs771496493 0.00001
NM_012275.3(IL36RN):c.75G>A (p.Gln25=) rs1348538791 0.00001
NM_013451.4(MYOF):c.651G>T (p.Arg217Ser) rs1256778304 0.00001
NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) rs1251713297 0.00001
46;XX;ins(2;9)(q24.3;p22.1p24.3)dn
46;Y;inv(X)(q27q28)
HAVCR1, 6-AA INS
NC_000002.11:g.(?_113816996)_(113820274_?)del
NC_000002.11:g.(?_113817016)_(113890448_?)del
NC_000002.12:g.(?_113060832)_(113116890_?)del
NC_000011.10:g.57597582C>T rs2135304804
NC_000017.10:g.(?_76851749)_(78367298_?)dup
NC_000017.10:g.(?_78010462)_(78158057_?)dup
NC_000017.10:g.(?_78032273)_(78163691_?)dup
NC_000017.10:g.(?_78155218)_(78172575_?)dup
NC_000017.10:g.(?_78155238)_(78166438_?)dup
NC_000017.10:g.(?_78168970)_(78182144_?)dup
NC_000017.10:g.(?_78177601)_(78179471_?)dup
NC_000017.10:g.(?_78177655)_(78183100_?)del
NC_000017.11:g.80184231AGG[4]
NG_009625.1:g.(13995_19163)_(19384_21774)del
NM_000062.2(SERPING1):c.-100C>G rs578018379
NM_000062.2(SERPING1):c.-105C>A rs886048397
NM_000062.2(SERPING1):c.-99dup rs28362939
NM_000062.3(SERPING1):c.-22-155G>T rs1945307391
NM_000062.3(SERPING1):c.-56T>G rs886048398
NM_000062.3(SERPING1):c.1012C>T (p.Gln338Ter) rs1565171906
NM_000062.3(SERPING1):c.1019del (p.Thr339_Leu340insTer) rs2135318396
NM_000062.3(SERPING1):c.1029+384A>G rs1945416520
NM_000062.3(SERPING1):c.1029+5G>T rs575103656
NM_000062.3(SERPING1):c.1030-1198G>T rs2508443
NM_000062.3(SERPING1):c.1036C>T (p.Gln346Ter) rs1590829609
NM_000062.3(SERPING1):c.1038_1052del (p.Gln346_Ser350del) rs1590829616
NM_000062.3(SERPING1):c.1051del (p.His351fs) rs2135324476
NM_000062.3(SERPING1):c.106_107del (p.Ser36fs) rs1590822296
NM_000062.3(SERPING1):c.1094dup (p.His365fs) rs2135324565
NM_000062.3(SERPING1):c.1100T>G (p.Leu367Arg) rs2135324578
NM_000062.3(SERPING1):c.1104del (p.Asp369fs) rs1590829685
NM_000062.3(SERPING1):c.1106del (p.Asp369fs) rs1565173309
NM_000062.3(SERPING1):c.1147A>G (p.Met383Val) rs746382640
NM_000062.3(SERPING1):c.1180del (p.Thr394fs) rs1590829763
NM_000062.3(SERPING1):c.1186del (p.Leu395_Leu396insTer) rs2135324746
NM_000062.3(SERPING1):c.1192C>G (p.Leu398Val) rs2135324760
NM_000062.3(SERPING1):c.1193T>C (p.Leu398Pro) rs1945480328
NM_000062.3(SERPING1):c.1193T>G (p.Leu398Arg) rs1945480328
NM_000062.3(SERPING1):c.1196C>G (p.Pro399Arg)
NM_000062.3(SERPING1):c.1233_1234insTC (p.Ile412fs) rs1945481508
NM_000062.3(SERPING1):c.1247T>A (p.Leu416Ter) rs1565173405
NM_000062.3(SERPING1):c.1249+1G>T rs112565881
NM_000062.3(SERPING1):c.1249+2T>C rs2135324885
NM_000062.3(SERPING1):c.1249+5G>C rs1590829846
NM_000062.3(SERPING1):c.124G>T (p.Glu42Ter) rs778625408
NM_000062.3(SERPING1):c.1264del (p.Ser422fs) rs1554996817
NM_000062.3(SERPING1):c.1268dup (p.Tyr423Ter) rs1554996819
NM_000062.3(SERPING1):c.1269T>A (p.Tyr423Ter) rs750873571
NM_000062.3(SERPING1):c.1289T>G (p.Leu430Arg) rs281875174
NM_000062.3(SERPING1):c.1306del (p.Leu436fs)
NM_000062.3(SERPING1):c.1324C>G (p.Gln442Glu) rs1590831346
NM_000062.3(SERPING1):c.1342_1349dup (p.Thr450_Glu451insAsnTer) rs1590831385
NM_000062.3(SERPING1):c.1353_1354del (p.Glu451fs) rs1554996833
NM_000062.3(SERPING1):c.1357_1358insTGT (p.Gly453delinsValTrp) rs606231141
NM_000062.3(SERPING1):c.1361T>A (p.Val454Glu) rs121907949
NM_000062.3(SERPING1):c.1372G>A (p.Ala458Thr) rs121907947
NM_000062.3(SERPING1):c.1373C>T (p.Ala458Val) rs1590831432
NM_000062.3(SERPING1):c.1379C>G (p.Ser460Cys) rs2135328051
NM_000062.3(SERPING1):c.1385T>G (p.Ile462Ser) rs763451792
NM_000062.3(SERPING1):c.1396C>A (p.Arg466Ser) rs28940870
NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys) rs28940870
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His) rs121907948
NM_000062.3(SERPING1):c.1409T>A (p.Val470Asp) rs1590831488
NM_000062.3(SERPING1):c.1417G>A (p.Val473Met) rs956390201
NM_000062.3(SERPING1):c.1420C>T (p.Gln474Ter) rs1565174105
NM_000062.3(SERPING1):c.1422G>C (p.Gln474His) rs1450674538
NM_000062.3(SERPING1):c.1424A>C (p.Gln475Pro) rs1945516584
NM_000062.3(SERPING1):c.1425G>T (p.Gln475His) rs1945516624
NM_000062.3(SERPING1):c.1446G>A (p.Trp482Ter) rs1590831545
NM_000062.3(SERPING1):c.1450C>T (p.Gln484Ter) rs2135328243
NM_000062.3(SERPING1):c.1475T>C (p.Met492Thr) rs978962357
NM_000062.3(SERPING1):c.1480C>T (p.Arg494Ter) rs922149386
NM_000062.3(SERPING1):c.172_181del (p.Pro58fs) rs2135308147
NM_000062.3(SERPING1):c.195del (p.Leu65fs) rs1945329402
NM_000062.3(SERPING1):c.197dup (p.Thr67fs) rs2135308182
NM_000062.3(SERPING1):c.1A>C (p.Met1Leu) rs1565168898
NM_000062.3(SERPING1):c.1A>G (p.Met1Val) rs1565168898
NM_000062.3(SERPING1):c.229A>T (p.Lys77Ter) rs2135308228
NM_000062.3(SERPING1):c.232del (p.Lys77_Ile78insTer) rs2135308232
NM_000062.3(SERPING1):c.239C>G (p.Ala80Gly) rs774944411
NM_000062.3(SERPING1):c.293C>T (p.Pro98Leu) rs1945331471
NM_000062.3(SERPING1):c.314_317del (p.Pro105fs) rs1945331796
NM_000062.3(SERPING1):c.330_331insC (p.Thr111fs) rs2135308522
NM_000062.3(SERPING1):c.342_345del (p.Thr115fs) rs1565169621
NM_000062.3(SERPING1):c.346C>T (p.Gln116Ter) rs2135308550
NM_000062.3(SERPING1):c.347del (p.Gln116fs) rs1590822588
NM_000062.3(SERPING1):c.369C>G (p.Cys123Trp) rs1465637711
NM_000062.3(SERPING1):c.377del (p.Pro126fs)
NM_000062.3(SERPING1):c.491_502del (p.Glu164_Met167del) rs1590822719
NM_000062.3(SERPING1):c.497A>C (p.Asn166Thr) rs1945333871
NM_000062.3(SERPING1):c.508del (p.Ser170fs) rs1590822739
NM_000062.3(SERPING1):c.51+1del rs1590821401
NM_000062.3(SERPING1):c.51+612GT[8] rs3054018
NM_000062.3(SERPING1):c.51G>C (p.Gly17=) rs199473715
NM_000062.3(SERPING1):c.538C>T (p.Gln180Ter) rs2135308831
NM_000062.3(SERPING1):c.550+1G>T rs2135308859
NM_000062.3(SERPING1):c.550+745_685+308del
NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg) rs281875170
NM_000062.3(SERPING1):c.551-156A>G rs1945351209
NM_000062.3(SERPING1):c.551-495A>C rs28362948
NM_000062.3(SERPING1):c.55A>T (p.Arg19Ter) rs1565169419
NM_000062.3(SERPING1):c.576_583dup (p.Ser195fs) rs1945353409
NM_000062.3(SERPING1):c.586_589del (p.Ile196fs) rs1565170287
NM_000062.3(SERPING1):c.587T>A (p.Ile196Asn) rs1554995255
NM_000062.3(SERPING1):c.597C>G (p.Tyr199Ter) rs121907951
NM_000062.3(SERPING1):c.600dup (p.Lys201fs) rs1590823884
NM_000062.3(SERPING1):c.615dup (p.Val206fs) rs1554995260
NM_000062.3(SERPING1):c.623dup (p.Ala209fs) rs2135311324
NM_000062.3(SERPING1):c.635dup (p.Phe213fs) rs2135311344
NM_000062.3(SERPING1):c.646delinsTCAGTGTCGTG (p.Lys216delinsSerValSerTer) rs1554995271
NM_000062.3(SERPING1):c.673_675del (p.Phe225del) rs2135311395
NM_000062.3(SERPING1):c.674_675delinsAA (p.Phe225Ter) rs1565170364
NM_000062.3(SERPING1):c.686-1333A>T rs1945388566
NM_000062.3(SERPING1):c.686-1488_686-1487insT rs1945386835
NM_000062.3(SERPING1):c.686-1G>A rs1945404833
NM_000062.3(SERPING1):c.708T>G (p.Phe236Leu) rs2135317558
NM_000062.3(SERPING1):c.733_736dup (p.Ser246fs) rs2135317617
NM_000062.3(SERPING1):c.748_749del (p.Val250fs) rs2135317631
NM_000062.3(SERPING1):c.74del (p.Asn25fs) rs2135307959
NM_000062.3(SERPING1):c.779dup (p.Leu261fs) rs2135317696
NM_000062.3(SERPING1):c.785dup (p.Asn263fs) rs2135317718
NM_000062.3(SERPING1):c.856C>G (p.Arg286Gly) rs1392305191
NM_000062.3(SERPING1):c.871A>C (p.Asn291His) rs1057520366
NM_000062.3(SERPING1):c.872A>G (p.Asn291Ser) rs754401203
NM_000062.3(SERPING1):c.878T>C (p.Ile293Thr) rs1590826571
NM_000062.3(SERPING1):c.890-14C>G rs2135318127
NM_000062.3(SERPING1):c.902del (p.Thr301fs) rs1945410259
NM_000062.3(SERPING1):c.908T>C (p.Phe303Ser) rs1590826703
NM_000062.3(SERPING1):c.941_942insTC (p.Phe315fs) rs2135318252
NM_000062.3(SERPING1):c.951dup (p.Ser318fs) rs2135318269
NM_000062.3(SERPING1):c.953C>G (p.Ser318Ter) rs1554995860
NM_000062.3(SERPING1):c.983_984delinsC (p.Lys328fs) rs2135318339
NM_000062.3(SERPING1):c.985A>T (p.Lys329Ter) rs1945411910
NM_000062.3(SERPING1):c.9del (p.Arg4fs) rs1945310324
NM_000142.5(FGFR3):c.1943A>C (p.Tyr648Ser) rs587779383
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000222.3(KIT):c.1598C>A (p.Ala533Asp) rs753212327
NM_000222.3(KIT):c.1676T>C (p.Val559Ala) rs121913517
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.3(KIT):c.2459A>G (p.Asp820Gly) rs121913682
NM_000222.3(KIT):c.2465A>T (p.Asn822Ile) rs993022333
NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys) rs1722933723
NM_000222.3(KIT):c.590C>T (p.Ser197Leu) rs2109674601
NM_000301.5(PLG):c.1329C>A (p.Ser443Arg) rs756670030
NM_000301.5(PLG):c.1657G>A (p.Asp553Asn) rs182937977
NM_000301.5(PLG):c.185+14C>A rs369616302
NM_000301.5(PLG):c.2183T>A (p.Val728Glu) rs1582955358
NM_000301.5(PLG):c.266G>C (p.Arg89Thr) rs143079629
NM_000301.5(PLG):c.466G>A (p.Asp156Asn) rs756533019
NM_000301.5(PLG):c.745G>A (p.Asp249Asn) rs532027310
NM_000301.5(PLG):c.814A>G (p.Thr272Ala) rs754598185
NM_000301.5(PLG):c.848A>G (p.Tyr283Cys) rs2115163630
NM_000374.4(UROD):c.-57dup rs777548921
NM_000374.5(UROD):c.*70G>A rs41269105
NM_000374.5(UROD):c.-1C>T rs886046364
NM_000374.5(UROD):c.101G>A (p.Trp34Ter)
NM_000374.5(UROD):c.185C>T (p.Pro62Leu) rs121918060
NM_000374.5(UROD):c.21-12C>T rs775210041
NM_000374.5(UROD):c.21-1G>C rs1644814606
NM_000374.5(UROD):c.240T>G (p.Ala80=) rs1644820833
NM_000374.5(UROD):c.383C>A (p.Ala128Asp) rs141792226
NM_000374.5(UROD):c.463G>A (p.Ala155Thr) rs1457521997
NM_000374.5(UROD):c.499G>A (p.Glu167Lys) rs121918058
NM_000374.5(UROD):c.578G>C (p.Arg193Pro) rs143823335
NM_000374.5(UROD):c.583C>T (p.Leu195Phe) rs121918064
NM_000374.5(UROD):c.583_611del (p.Leu195fs) rs2148982945
NM_000374.5(UROD):c.693G>A (p.Lys231=) rs143180539
NM_000374.5(UROD):c.6_15del (p.Glu2fs) rs397514764
NM_000374.5(UROD):c.70T>G (p.Trp24Gly) rs11541966
NM_000374.5(UROD):c.725del (p.Lys242fs)
NM_000374.5(UROD):c.758dup (p.Ala254fs)
NM_000374.5(UROD):c.842G>A (p.Gly281Glu) rs121918057
NM_000374.5(UROD):c.874C>G (p.Arg292Gly) rs121918059
NM_000374.5(UROD):c.904C>T (p.Gln302Ter) rs1569967143
NM_000374.5(UROD):c.942G>A (p.Glu314=) rs121918062
NM_000374.5(UROD):c.995G>A (p.Arg332His) rs121918066
NM_000418.4(IL4R):c.134A>G (p.Glu45Gly)
NM_000505.4(F12):c.-25G>A rs886060472
NM_000505.4(F12):c.1018+11G>T rs570973405
NM_000505.4(F12):c.1018+19del rs35966430
NM_000505.4(F12):c.1025C>T (p.Pro342Leu) rs2230939
NM_000505.4(F12):c.1142G>A (p.Arg381His) rs1763214147
NM_000505.4(F12):c.1251-7C>T rs375340260
NM_000505.4(F12):c.1251-9C>A rs17876032
NM_000505.4(F12):c.1251-9C>T rs17876032
NM_000505.4(F12):c.1530G>C (p.Glu510Asp) rs1763185944
NM_000505.4(F12):c.1768T>G (p.Cys590Gly) rs1157280571
NM_000505.4(F12):c.286+6A>G rs1763273226
NM_000505.4(F12):c.894_911dup (p.Gln300_Thr305dup) rs774034606
NM_000505.4(F12):c.957G>C (p.Gln319His) rs1763225226
NM_000505.4(F12):c.971_1018+24del rs1554097246
NM_000505.4(F12):c.983C>A (p.Thr328Lys) rs118204456
NM_000505.4(F12):c.983C>G (p.Thr328Arg) rs118204456
NM_001009606.4(HS3ST6):c.946C>G (p.Leu316Val)
NM_001102416.3(KNG1):c.1136T>A (p.Met379Lys) rs765933558
NM_001102416.3(KNG1):c.166T>G (p.Leu56Val)
NM_001102416.3(KNG1):c.1720C>G (p.Pro574Ala) rs1369253342
NM_001243133.2(NLRP3):c.1700A>G (p.Glu567Gly) rs2103112233
NM_001366385.1(CARD14):c.1007G>A (p.Ser336Asn) rs2040501473
NM_001366385.1(CARD14):c.1013T>C (p.Met338Thr)
NM_001366385.1(CARD14):c.1014G>A (p.Met338Ile)
NM_001366385.1(CARD14):c.1023A>T (p.Gln341His) rs768931223
NM_001366385.1(CARD14):c.1038G>A (p.Lys346=)
NM_001366385.1(CARD14):c.1044T>C (p.Asn348=) rs2144261925
NM_001366385.1(CARD14):c.1046C>A (p.Ala349Glu)
NM_001366385.1(CARD14):c.1055C>G (p.Ala352Gly)
NM_001366385.1(CARD14):c.1058A>C (p.Gln353Pro)
NM_001366385.1(CARD14):c.105C>G (p.Cys35Trp) rs1014127464
NM_001366385.1(CARD14):c.1064G>A (p.Cys355Tyr)
NM_001366385.1(CARD14):c.1066G>A (p.Glu356Lys)
NM_001366385.1(CARD14):c.107C>T (p.Pro36Leu)
NM_001366385.1(CARD14):c.1080G>A (p.Glu360=) rs1598655346
NM_001366385.1(CARD14):c.1081C>T (p.Arg361Ter)
NM_001366385.1(CARD14):c.1082G>T (p.Arg361Leu) rs763738345
NM_001366385.1(CARD14):c.1089+12G>C
NM_001366385.1(CARD14):c.1089+15G>A rs747439154
NM_001366385.1(CARD14):c.1089+15G>C
NM_001366385.1(CARD14):c.1089+16G>A
NM_001366385.1(CARD14):c.1089+3A>G
NM_001366385.1(CARD14):c.1089+7G>A
NM_001366385.1(CARD14):c.1089+9G>A rs1567880829
NM_001366385.1(CARD14):c.1090-11G>A
NM_001366385.1(CARD14):c.1090-11G>T rs771338077
NM_001366385.1(CARD14):c.1090-12C>G rs749499170
NM_001366385.1(CARD14):c.1090-14G>A
NM_001366385.1(CARD14):c.1090-16C>T rs1179304735
NM_001366385.1(CARD14):c.1090-18T>A
NM_001366385.1(CARD14):c.1090-19C>T rs2144266746
NM_001366385.1(CARD14):c.1098C>G (p.Ser366=) rs749480979
NM_001366385.1(CARD14):c.1099G>A (p.Ala367Thr) rs375882704
NM_001366385.1(CARD14):c.1099G>C (p.Ala367Pro)
NM_001366385.1(CARD14):c.1099G>T (p.Ala367Ser) rs375882704
NM_001366385.1(CARD14):c.1100C>A (p.Ala367Glu)
NM_001366385.1(CARD14):c.1101G>A (p.Ala367=)
NM_001366385.1(CARD14):c.1105G>A (p.Asp369Asn)
NM_001366385.1(CARD14):c.1107C>T (p.Asp369=)
NM_001366385.1(CARD14):c.1109G>C (p.Ser370Thr) rs2040521870
NM_001366385.1(CARD14):c.1121A>C (p.Glu374Ala)
NM_001366385.1(CARD14):c.1125T>C (p.Ile375=)
NM_001366385.1(CARD14):c.1128C>T (p.Ser376=) rs779208769
NM_001366385.1(CARD14):c.1133G>A (p.Ser378Asn)
NM_001366385.1(CARD14):c.1144A>G (p.Lys382Glu)
NM_001366385.1(CARD14):c.1147G>T (p.Asp383Tyr)
NM_001366385.1(CARD14):c.1156C>A (p.Arg386Ser)
NM_001366385.1(CARD14):c.1157G>A (p.Arg386His) rs535721220
NM_001366385.1(CARD14):c.1157G>T (p.Arg386Leu)
NM_001366385.1(CARD14):c.1162C>T (p.Gln388Ter)
NM_001366385.1(CARD14):c.1170C>A (p.Phe390Leu) rs74951924
NM_001366385.1(CARD14):c.1170C>G (p.Phe390Leu)
NM_001366385.1(CARD14):c.1171G>A (p.Glu391Lys) rs369150206
NM_001366385.1(CARD14):c.1171G>C (p.Glu391Gln)
NM_001366385.1(CARD14):c.1178C>G (p.Thr393Arg) rs149287760
NM_001366385.1(CARD14):c.117C>A (p.Leu39=)
NM_001366385.1(CARD14):c.1191C>T (p.Cys397=)
NM_001366385.1(CARD14):c.1192G>A (p.Glu398Lys) rs139740020
NM_001366385.1(CARD14):c.1192G>C (p.Glu398Gln) rs139740020
NM_001366385.1(CARD14):c.1194G>C (p.Glu398Asp)
NM_001366385.1(CARD14):c.1206G>C (p.Gln402His)
NM_001366385.1(CARD14):c.1206G>T (p.Gln402His) rs1429329304
NM_001366385.1(CARD14):c.1211G>A (p.Arg404His) rs978430125
NM_001366385.1(CARD14):c.1211G>T (p.Arg404Leu) rs978430125
NM_001366385.1(CARD14):c.1216C>A (p.Leu406Met)
NM_001366385.1(CARD14):c.1232C>G (p.Pro411Arg)
NM_001366385.1(CARD14):c.1239+11C>T
NM_001366385.1(CARD14):c.1239+13G>A
NM_001366385.1(CARD14):c.1239+15C>T
NM_001366385.1(CARD14):c.1240-14C>T
NM_001366385.1(CARD14):c.1240-20G>C
NM_001366385.1(CARD14):c.1240-6T>C rs2144279573
NM_001366385.1(CARD14):c.1245G>A (p.Lys415=)
NM_001366385.1(CARD14):c.1258A>G (p.Thr420Ala)
NM_001366385.1(CARD14):c.1259C>T (p.Thr420Ile)
NM_001366385.1(CARD14):c.1266G>C (p.Glu422Asp)
NM_001366385.1(CARD14):c.1269C>T (p.Pro423=)
NM_001366385.1(CARD14):c.1270T>G (p.Cys424Gly)
NM_001366385.1(CARD14):c.1276C>A (p.Arg426=) rs201308755
NM_001366385.1(CARD14):c.1297C>T (p.Arg433Trp)
NM_001366385.1(CARD14):c.129G>A (p.Leu43=)
NM_001366385.1(CARD14):c.131_132dup (p.Gln45fs)
NM_001366385.1(CARD14):c.1324G>A (p.Asp442Asn)
NM_001366385.1(CARD14):c.1324G>C (p.Asp442His)
NM_001366385.1(CARD14):c.1329C>T (p.Ser443=)
NM_001366385.1(CARD14):c.1346G>A (p.Ser449Asn) rs569641889
NM_001366385.1(CARD14):c.1349C>T (p.Ser450Phe)
NM_001366385.1(CARD14):c.1352C>T (p.Thr451Ile)
NM_001366385.1(CARD14):c.1352_1353del (p.Thr451fs)
NM_001366385.1(CARD14):c.1356+18_1356+19del rs756509461
NM_001366385.1(CARD14):c.1356+4C>A
NM_001366385.1(CARD14):c.1356+8del rs2144281783
NM_001366385.1(CARD14):c.1357-1G>A rs112639680
NM_001366385.1(CARD14):c.1357-2A>C rs1220950502
NM_001366385.1(CARD14):c.1357-8_1357-3del
NM_001366385.1(CARD14):c.1366_1367del (p.Leu456fs) rs758784694
NM_001366385.1(CARD14):c.1371G>A (p.Ser457=) rs62074378
NM_001366385.1(CARD14):c.1371G>C (p.Ser457=) rs62074378
NM_001366385.1(CARD14):c.13_14del (p.Cys5fs)
NM_001366385.1(CARD14):c.1401G>C (p.Leu467=)
NM_001366385.1(CARD14):c.1420A>T (p.Ser474Cys)
NM_001366385.1(CARD14):c.1429G>A (p.Ala477Thr)
NM_001366385.1(CARD14):c.1437dup (p.Ser480fs) rs780143594
NM_001366385.1(CARD14):c.1438A>G (p.Ser480Gly)
NM_001366385.1(CARD14):c.1447T>C (p.Ser483Pro) rs374170794
NM_001366385.1(CARD14):c.1449C>T (p.Ser483=)
NM_001366385.1(CARD14):c.1459C>T (p.Arg487Trp)
NM_001366385.1(CARD14):c.1462G>A (p.Val488Met) rs2040670895
NM_001366385.1(CARD14):c.1463T>C (p.Val488Ala) rs2040670989
NM_001366385.1(CARD14):c.1467C>T (p.Ala489=)
NM_001366385.1(CARD14):c.1471G>T (p.Asp491Tyr) rs149030007
NM_001366385.1(CARD14):c.1487C>A (p.Pro496His)
NM_001366385.1(CARD14):c.1487C>G (p.Pro496Arg)
NM_001366385.1(CARD14):c.1488del (p.Trp497fs)
NM_001366385.1(CARD14):c.1490G>C (p.Trp497Ser) rs2040672265
NM_001366385.1(CARD14):c.1499+27_1499+55del rs747205873
NM_001366385.1(CARD14):c.1499+2T>C
NM_001366385.1(CARD14):c.1499+9C>A
NM_001366385.1(CARD14):c.1500-20C>A
NM_001366385.1(CARD14):c.1500-5T>G rs2144317520
NM_001366385.1(CARD14):c.1500-9G>C
NM_001366385.1(CARD14):c.1504T>C (p.Cys502Arg)
NM_001366385.1(CARD14):c.150C>G (p.Cys50Trp)
NM_001366385.1(CARD14):c.1517C>G (p.Pro506Arg)
NM_001366385.1(CARD14):c.1523G>A (p.Gly508Glu) rs2144317807
NM_001366385.1(CARD14):c.1530G>A (p.Pro510=) rs376285944
NM_001366385.1(CARD14):c.1534G>C (p.Ala512Pro) rs200536688
NM_001366385.1(CARD14):c.1541C>T (p.Pro514Leu)
NM_001366385.1(CARD14):c.1557C>A (p.Gly519=)
NM_001366385.1(CARD14):c.1557C>T (p.Gly519=)
NM_001366385.1(CARD14):c.155T>C (p.Leu52Pro) rs2040177420
NM_001366385.1(CARD14):c.1560C>T (p.Asp520=)
NM_001366385.1(CARD14):c.1561_1564del (p.Pro521fs)
NM_001366385.1(CARD14):c.1571A>G (p.Asp524Gly) rs2040685300
NM_001366385.1(CARD14):c.1583T>C (p.Leu528Pro)
NM_001366385.1(CARD14):c.1590G>A (p.Thr530=) rs138100360
NM_001366385.1(CARD14):c.1590G>C (p.Thr530=) rs138100360
NM_001366385.1(CARD14):c.1590G>T (p.Thr530=)
NM_001366385.1(CARD14):c.1593_1594+1del
NM_001366385.1(CARD14):c.1594+4A>G
NM_001366385.1(CARD14):c.1594+8C>T
NM_001366385.1(CARD14):c.1594+9G>A rs779044291
NM_001366385.1(CARD14):c.1594+9G>C
NM_001366385.1(CARD14):c.1595-18C>T
NM_001366385.1(CARD14):c.1595-3C>A rs761315669
NM_001366385.1(CARD14):c.159C>G (p.Asp53Glu) rs368565321
NM_001366385.1(CARD14):c.159C>T (p.Asp53=) rs368565321
NM_001366385.1(CARD14):c.1604A>G (p.Gln535Arg)
NM_001366385.1(CARD14):c.1617C>A (p.Ser539Arg) rs1598673588
NM_001366385.1(CARD14):c.1631C>A (p.Ser544Tyr)
NM_001366385.1(CARD14):c.1646A>C (p.Asp549Ala)
NM_001366385.1(CARD14):c.1653G>T (p.Ser551=) rs369746581
NM_001366385.1(CARD14):c.1658+11G>T
NM_001366385.1(CARD14):c.1658+19T>A
NM_001366385.1(CARD14):c.1658+8G>A
NM_001366385.1(CARD14):c.1658+9_1658+11del rs773281285
NM_001366385.1(CARD14):c.1659-17C>G
NM_001366385.1(CARD14):c.1659-17C>T rs374698233
NM_001366385.1(CARD14):c.1659-1G>A rs766603184
NM_001366385.1(CARD14):c.1659-20G>A
NM_001366385.1(CARD14):c.1660G>A (p.Gly554Ser) rs567315820
NM_001366385.1(CARD14):c.1660G>C (p.Gly554Arg) rs567315820
NM_001366385.1(CARD14):c.1660G>T (p.Gly554Cys) rs567315820
NM_001366385.1(CARD14):c.1661G>C (p.Gly554Ala)
NM_001366385.1(CARD14):c.1670T>A (p.Met557Lys)
NM_001366385.1(CARD14):c.1672C>A (p.Arg558=)
NM_001366385.1(CARD14):c.1673G>C (p.Arg558Pro) rs745339472
NM_001366385.1(CARD14):c.1675C>T (p.Arg559Trp)
NM_001366385.1(CARD14):c.1676G>A (p.Arg559Gln)
NM_001366385.1(CARD14):c.1679G>A (p.Arg560Lys)
NM_001366385.1(CARD14):c.1681C>T (p.Pro561Ser)
NM_001366385.1(CARD14):c.1709C>A (p.Thr570Asn)
NM_001366385.1(CARD14):c.1737G>A (p.Leu579=)
NM_001366385.1(CARD14):c.1738C>T (p.Leu580=) rs562930550
NM_001366385.1(CARD14):c.173T>C (p.Leu58Pro) rs2144150792
NM_001366385.1(CARD14):c.1741G>C (p.Glu581Gln) rs2144349776
NM_001366385.1(CARD14):c.1744C>T (p.Gln582Ter)
NM_001366385.1(CARD14):c.1761C>G (p.Gly587=) rs200610907
NM_001366385.1(CARD14):c.1761C>T (p.Gly587=)
NM_001366385.1(CARD14):c.1762G>A (p.Gly588Arg)
NM_001366385.1(CARD14):c.1762G>C (p.Gly588Arg)
NM_001366385.1(CARD14):c.176A>G (p.His59Arg) rs1171263657
NM_001366385.1(CARD14):c.1775G>A (p.Gly592Asp)
NM_001366385.1(CARD14):c.177C>G (p.His59Gln) rs2040178477
NM_001366385.1(CARD14):c.1793T>C (p.Val598Ala)
NM_001366385.1(CARD14):c.1793_1851+33del
NM_001366385.1(CARD14):c.1796C>A (p.Thr599Asn)
NM_001366385.1(CARD14):c.179G>A (p.Ser60Asn)
NM_001366385.1(CARD14):c.1800G>A (p.Pro600=)
NM_001366385.1(CARD14):c.1805C>G (p.Ser602Trp) rs201285077
NM_001366385.1(CARD14):c.1812G>A (p.Ala604=)
NM_001366385.1(CARD14):c.1816C>T (p.Gln606Ter)
NM_001366385.1(CARD14):c.1817A>C (p.Gln606Pro)
NM_001366385.1(CARD14):c.1820T>C (p.Met607Thr)
NM_001366385.1(CARD14):c.1824C>T (p.Ala608=) rs1003003369
NM_001366385.1(CARD14):c.1824_1825dup (p.Leu609fs) rs2040807292
NM_001366385.1(CARD14):c.1826T>C (p.Leu609Ser) rs2040807441
NM_001366385.1(CARD14):c.1829G>C (p.Arg610Pro) rs372001018
NM_001366385.1(CARD14):c.1831C>T (p.Pro611Ser)
NM_001366385.1(CARD14):c.1833G>A (p.Pro611=) rs534430051
NM_001366385.1(CARD14):c.1840C>T (p.Gln614Ter) rs374763410
NM_001366385.1(CARD14):c.1846G>A (p.Val616Met)
NM_001366385.1(CARD14):c.1847T>C (p.Val616Ala)
NM_001366385.1(CARD14):c.1851+12G>A
NM_001366385.1(CARD14):c.1851+12G>C rs767173320
NM_001366385.1(CARD14):c.1851+19C>T
NM_001366385.1(CARD14):c.1851+7C>T
NM_001366385.1(CARD14):c.1851+8G>C rs770747080
NM_001366385.1(CARD14):c.1851+9T>C
NM_001366385.1(CARD14):c.1852-11C>T
NM_001366385.1(CARD14):c.1852-18T>C
NM_001366385.1(CARD14):c.1852-7C>T rs2040987039
NM_001366385.1(CARD14):c.1854T>G (p.Val618=) rs111451894
NM_001366385.1(CARD14):c.1855G>T (p.Asp619Tyr)
NM_001366385.1(CARD14):c.1858T>A (p.Tyr620Asn)
NM_001366385.1(CARD14):c.1869A>G (p.Ser623=)
NM_001366385.1(CARD14):c.1873C>T (p.Pro625Ser) rs2040988522
NM_001366385.1(CARD14):c.1882A>G (p.Lys628Glu)
NM_001366385.1(CARD14):c.1895A>G (p.Glu632Gly)
NM_001366385.1(CARD14):c.1909G>A (p.Glu637Lys) rs2144429872
NM_001366385.1(CARD14):c.1913A>C (p.Glu638Ala)
NM_001366385.1(CARD14):c.191C>T (p.Thr64Ile)
NM_001366385.1(CARD14):c.1920G>A (p.Val640=)
NM_001366385.1(CARD14):c.1925T>A (p.Leu642His)
NM_001366385.1(CARD14):c.1929C>G (p.Leu643=) rs2144430849
NM_001366385.1(CARD14):c.1936del (p.Val646fs) rs1457086329
NM_001366385.1(CARD14):c.1937T>C (p.Val646Ala)
NM_001366385.1(CARD14):c.1938G>T (p.Val646=) rs1255773294
NM_001366385.1(CARD14):c.1964A>T (p.Lys655Met)
NM_001366385.1(CARD14):c.1965G>A (p.Lys655=)
NM_001366385.1(CARD14):c.1966G>A (p.Val656Ile) rs2144432945
NM_001366385.1(CARD14):c.1971C>T (p.Asn657=) rs2144433219
NM_001366385.1(CARD14):c.1978+12A>C
NM_001366385.1(CARD14):c.1978+15C>A rs774496431
NM_001366385.1(CARD14):c.1978+17T>C rs1198880344
NM_001366385.1(CARD14):c.1978+2T>C
NM_001366385.1(CARD14):c.1979-10C>T
NM_001366385.1(CARD14):c.1979-13C>A rs377635873
NM_001366385.1(CARD14):c.1979G>A (p.Gly660Asp)
NM_001366385.1(CARD14):c.1979G>T (p.Gly660Val) rs1238031435
NM_001366385.1(CARD14):c.1982A>C (p.Tyr661Ser) rs763973976
NM_001366385.1(CARD14):c.1982A>T (p.Tyr661Phe)
NM_001366385.1(CARD14):c.1985dup (p.Arg663fs)
NM_001366385.1(CARD14):c.1986G>A (p.Lys662=) rs1425514742
NM_001366385.1(CARD14):c.1990C>T (p.Leu664=)
NM_001366385.1(CARD14):c.1997A>G (p.Gln666Arg) rs761312685
NM_001366385.1(CARD14):c.199G>A (p.Ala67Thr)
NM_001366385.1(CARD14):c.19A>T (p.Arg7Trp)
NM_001366385.1(CARD14):c.2000A>T (p.Asp667Val) rs1031489302
NM_001366385.1(CARD14):c.2005G>A (p.Glu669Lys)
NM_001366385.1(CARD14):c.2006A>G (p.Glu669Gly)
NM_001366385.1(CARD14):c.2007G>A (p.Glu669=)
NM_001366385.1(CARD14):c.2010C>G (p.Ala670=)
NM_001366385.1(CARD14):c.2019G>T (p.Ala673=)
NM_001366385.1(CARD14):c.2024C>T (p.Ser675Leu)
NM_001366385.1(CARD14):c.202A>C (p.Met68Leu) rs1043628741
NM_001366385.1(CARD14):c.2035T>C (p.Phe679Leu) rs772268382
NM_001366385.1(CARD14):c.2037C>T (p.Phe679=)
NM_001366385.1(CARD14):c.2057C>T (p.Ala686Val)
NM_001366385.1(CARD14):c.2058C>T (p.Ala686=)
NM_001366385.1(CARD14):c.2066G>A (p.Gly689Asp)
NM_001366385.1(CARD14):c.2100C>T (p.Asn700=)
NM_001366385.1(CARD14):c.211+1G>C
NM_001366385.1(CARD14):c.211+6C>T
NM_001366385.1(CARD14):c.2115C>T (p.Val705=)
NM_001366385.1(CARD14):c.2117C>T (p.Thr706Ile)
NM_001366385.1(CARD14):c.212-20A>G
NM_001366385.1(CARD14):c.212-8C>T
NM_001366385.1(CARD14):c.2122A>C (p.Thr708Pro) rs2041026658
NM_001366385.1(CARD14):c.2126T>C (p.Met709Thr)
NM_001366385.1(CARD14):c.2151T>C (p.His717=)
NM_001366385.1(CARD14):c.2153C>T (p.Ala718Val)
NM_001366385.1(CARD14):c.2163G>A (p.Val721=)
NM_001366385.1(CARD14):c.2164A>G (p.Asn722Asp)
NM_001366385.1(CARD14):c.2168C>A (p.Ser723Tyr)
NM_001366385.1(CARD14):c.2172C>A (p.Tyr724Ter) rs141122143
NM_001366385.1(CARD14):c.2172C>T (p.Tyr724=)
NM_001366385.1(CARD14):c.2177T>C (p.Met726Thr)
NM_001366385.1(CARD14):c.2197G>A (p.Gly733Ser)
NM_001366385.1(CARD14):c.21G>A (p.Arg7=)
NM_001366385.1(CARD14):c.2219+14T>A rs8069255
NM_001366385.1(CARD14):c.2219+14T>G rs8069255
NM_001366385.1(CARD14):c.2219+15C>T
NM_001366385.1(CARD14):c.2219+3G>A
NM_001366385.1(CARD14):c.2219+4A>G rs2041033764
NM_001366385.1(CARD14):c.2220-13C>A
NM_001366385.1(CARD14):c.2220-19C>A
NM_001366385.1(CARD14):c.2220-3_2220-2dup
NM_001366385.1(CARD14):c.2226G>C (p.Gln742His) rs2144510433
NM_001366385.1(CARD14):c.2227C>G (p.Gln743Glu) rs2041123415
NM_001366385.1(CARD14):c.2244C>T (p.Leu748=)
NM_001366385.1(CARD14):c.2261A>T (p.Gln754Leu)
NM_001366385.1(CARD14):c.2269A>T (p.Thr757Ser)
NM_001366385.1(CARD14):c.2271C>T (p.Thr757=)
NM_001366385.1(CARD14):c.2272G>A (p.Val758Met)
NM_001366385.1(CARD14):c.2283+14G>A
NM_001366385.1(CARD14):c.2284-15C>T
NM_001366385.1(CARD14):c.2292T>C (p.Ser764=)
NM_001366385.1(CARD14):c.2310G>A (p.Leu770=) rs750412113
NM_001366385.1(CARD14):c.2317A>T (p.Ile773Phe) rs754681974
NM_001366385.1(CARD14):c.2319C>T (p.Ile773=) rs747692472
NM_001366385.1(CARD14):c.2322C>T (p.Val774=) rs1598706887
NM_001366385.1(CARD14):c.2330A>G (p.Asp777Gly) rs1598706931
NM_001366385.1(CARD14):c.233A>C (p.Lys78Thr) rs2144164269
NM_001366385.1(CARD14):c.2357T>C (p.Leu786Ser) rs542846594
NM_001366385.1(CARD14):c.2372G>A (p.Gly791Asp) rs1217182656
NM_001366385.1(CARD14):c.2376G>T (p.Gln792His) rs993221979
NM_001366385.1(CARD14):c.2377T>A (p.Leu793Met)
NM_001366385.1(CARD14):c.2377T>G (p.Leu793Val)
NM_001366385.1(CARD14):c.2382C>G (p.Asp794Glu)
NM_001366385.1(CARD14):c.2384C>T (p.Pro795Leu) rs2144526744
NM_001366385.1(CARD14):c.2388C>G (p.Ser796Arg)
NM_001366385.1(CARD14):c.238C>T (p.Arg80Ter)
NM_001366385.1(CARD14):c.2392dup (p.Met798fs) rs2144527157
NM_001366385.1(CARD14):c.2398+11G>A
NM_001366385.1(CARD14):c.2398+3G>A rs371430475
NM_001366385.1(CARD14):c.2399-6C>T
NM_001366385.1(CARD14):c.2408C>G (p.Thr803Arg)
NM_001366385.1(CARD14):c.2409G>T (p.Thr803=)
NM_001366385.1(CARD14):c.2411G>A (p.Cys804Tyr)
NM_001366385.1(CARD14):c.2419G>A (p.Ala807Thr) rs2041211424
NM_001366385.1(CARD14):c.2421C>G (p.Ala807=) rs770965110
NM_001366385.1(CARD14):c.2432T>C (p.Leu811Pro) rs1350403084
NM_001366385.1(CARD14):c.2437C>G (p.Leu813Val) rs2041212594
NM_001366385.1(CARD14):c.2437C>T (p.Leu813=)
NM_001366385.1(CARD14):c.2448T>A (p.Tyr816Ter)
NM_001366385.1(CARD14):c.2455G>A (p.Val819Met) rs1567903410
NM_001366385.1(CARD14):c.2456T>C (p.Val819Ala)
NM_001366385.1(CARD14):c.2459G>A (p.Arg820Gln)
NM_001366385.1(CARD14):c.2463C>T (p.Pro821=)
NM_001366385.1(CARD14):c.2472C>T (p.Pro824=)
NM_001366385.1(CARD14):c.2477G>A (p.Arg826Gln) rs183322775
NM_001366385.1(CARD14):c.2481_2482delinsTT (p.Arg828Trp)
NM_001366385.1(CARD14):c.2482C>T (p.Arg828Trp)
NM_001366385.1(CARD14):c.2497G>A (p.Val833Met) rs1310418853
NM_001366385.1(CARD14):c.249C>T (p.Asn83=) rs148170776
NM_001366385.1(CARD14):c.2503del (p.Arg835fs)
NM_001366385.1(CARD14):c.250G>C (p.Gly84Arg) rs193262780
NM_001366385.1(CARD14):c.2514G>A (p.Gly838=) rs1452524384
NM_001366385.1(CARD14):c.251G>A (p.Gly84Glu)
NM_001366385.1(CARD14):c.2533C>A (p.Leu845Met)
NM_001366385.1(CARD14):c.2536_2537del (p.Cys846fs)
NM_001366385.1(CARD14):c.2538C>A (p.Cys846Ter)
NM_001366385.1(CARD14):c.2538C>G (p.Cys846Trp)
NM_001366385.1(CARD14):c.2539C>T (p.Leu847Phe)
NM_001366385.1(CARD14):c.253G>A (p.Ala85Thr)
NM_001366385.1(CARD14):c.2540T>A (p.Leu847His)
NM_001366385.1(CARD14):c.2544C>G (p.Leu848=)
NM_001366385.1(CARD14):c.2559G>A (p.Lys853=) rs757431534
NM_001366385.1(CARD14):c.2561G>A (p.Cys854Tyr) rs2144557503
NM_001366385.1(CARD14):c.2567C>T (p.Ala856Val)
NM_001366385.1(CARD14):c.2569+10T>G
NM_001366385.1(CARD14):c.2569+13C>G
NM_001366385.1(CARD14):c.2569+15G>A
NM_001366385.1(CARD14):c.2569+8G>A rs373649706
NM_001366385.1(CARD14):c.2570-11G>A
NM_001366385.1(CARD14):c.2570-13A>G
NM_001366385.1(CARD14):c.2570-18G>A
NM_001366385.1(CARD14):c.2570-3T>C rs2144571219
NM_001366385.1(CARD14):c.2570-9C>G rs780352594
NM_001366385.1(CARD14):c.2574C>T (p.Tyr858=)
NM_001366385.1(CARD14):c.2587G>A (p.Glu863Lys)
NM_001366385.1(CARD14):c.2591A>G (p.Tyr864Cys) rs1196800518
NM_001366385.1(CARD14):c.2595G>A (p.Glu865=)
NM_001366385.1(CARD14):c.2598C>G (p.Ala866=)
NM_001366385.1(CARD14):c.2599T>A (p.Trp867Arg) rs1204745306
NM_001366385.1(CARD14):c.259G>A (p.Ala87Thr) rs370897817
NM_001366385.1(CARD14):c.2626G>A (p.Glu876Lys)
NM_001366385.1(CARD14):c.2626G>C (p.Glu876Gln) rs746358733
NM_001366385.1(CARD14):c.2628G>A (p.Glu876=)
NM_001366385.1(CARD14):c.2630G>A (p.Gly877Glu)
NM_001366385.1(CARD14):c.2639C>T (p.Ser880Phe)
NM_001366385.1(CARD14):c.2645del (p.Gly882fs)
NM_001366385.1(CARD14):c.2658G>T (p.Val886=)
NM_001366385.1(CARD14):c.2663G>A (p.Arg888His)
NM_001366385.1(CARD14):c.2666A>G (p.His889Arg)
NM_001366385.1(CARD14):c.2671G>A (p.Val891Met)
NM_001366385.1(CARD14):c.267G>A (p.Leu89=) rs373005620
NM_001366385.1(CARD14):c.2683A>G (p.Met895Val)
NM_001366385.1(CARD14):c.2690del (p.Lys897fs)
NM_001366385.1(CARD14):c.2691+10A>T rs1598715259
NM_001366385.1(CARD14):c.2691+11G>A
NM_001366385.1(CARD14):c.2691+16G>T
NM_001366385.1(CARD14):c.2691+19T>G
NM_001366385.1(CARD14):c.2691+20G>A rs2041261946
NM_001366385.1(CARD14):c.2691+4_2691+5dup
NM_001366385.1(CARD14):c.2692-5C>A rs777494484
NM_001366385.1(CARD14):c.2692-8C>A rs756059561
NM_001366385.1(CARD14):c.26C>G (p.Ser9Cys) rs779622128
NM_001366385.1(CARD14):c.2726G>A (p.Ser909Asn) rs1359027479
NM_001366385.1(CARD14):c.2740C>A (p.His914Asn) rs199555156
NM_001366385.1(CARD14):c.2769C>T (p.Ile923=)
NM_001366385.1(CARD14):c.2770C>A (p.His924Asn)
NM_001366385.1(CARD14):c.2777C>G (p.Ser926Cys)
NM_001366385.1(CARD14):c.2778dup (p.Val927fs) rs2144608270
NM_001366385.1(CARD14):c.2785G>A (p.Glu929Lys) rs1567907237
NM_001366385.1(CARD14):c.2786AGA[1] (p.Lys930del) rs1474412398
NM_001366385.1(CARD14):c.2807+10C>G rs368700533
NM_001366385.1(CARD14):c.2807+2T>C
NM_001366385.1(CARD14):c.2807+8C>A
NM_001366385.1(CARD14):c.2808-15C>A rs549404117
NM_001366385.1(CARD14):c.2808-15C>T rs549404117
NM_001366385.1(CARD14):c.2808-19C>A rs111745899
NM_001366385.1(CARD14):c.2808-19C>G rs111745899
NM_001366385.1(CARD14):c.2808-19C>T
NM_001366385.1(CARD14):c.2808-20C>A rs545159633
NM_001366385.1(CARD14):c.2808-20C>G rs545159633
NM_001366385.1(CARD14):c.2808-20C>T
NM_001366385.1(CARD14):c.2808-20_2808-19delinsAA rs2144635630
NM_001366385.1(CARD14):c.2818C>T (p.Gln940Ter)
NM_001366385.1(CARD14):c.2819A>G (p.Gln940Arg) rs2041449908
NM_001366385.1(CARD14):c.2821_2827del (p.Arg941fs) rs2144636798
NM_001366385.1(CARD14):c.2826G>C (p.Leu942Phe) rs2041450692
NM_001366385.1(CARD14):c.2830A>G (p.Thr944Ala) rs2144637132
NM_001366385.1(CARD14):c.2836G>A (p.Glu946Lys)
NM_001366385.1(CARD14):c.2845C>A (p.Leu949Ile)
NM_001366385.1(CARD14):c.2848C>T (p.Leu950=)
NM_001366385.1(CARD14):c.2857G>T (p.Ala953Ser)
NM_001366385.1(CARD14):c.2864AGG[2] (p.Glu957del) rs937454631
NM_001366385.1(CARD14):c.2871G>A (p.Glu957=) rs373510767
NM_001366385.1(CARD14):c.2877C>T (p.Asp959=)
NM_001366385.1(CARD14):c.2881G>A (p.Asp961Asn)
NM_001366385.1(CARD14):c.2882A>C (p.Asp961Ala)
NM_001366385.1(CARD14):c.2888C>T (p.Ala963Val) rs1176488460
NM_001366385.1(CARD14):c.2891C>T (p.Pro964Leu)
NM_001366385.1(CARD14):c.2894G>C (p.Cys965Ser) rs769815186
NM_001366385.1(CARD14):c.2917G>C (p.Asp973His) rs2041459131
NM_001366385.1(CARD14):c.2918A>G (p.Asp973Gly)
NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu) rs144285237
NM_001366385.1(CARD14):c.2919C>T (p.Asp973=) rs144285237
NM_001366385.1(CARD14):c.2924G>C (p.Trp975Ser) rs2041459906
NM_001366385.1(CARD14):c.2927G>A (p.Ser976Asn) rs2041460345
NM_001366385.1(CARD14):c.2928C>A (p.Ser976Arg) rs755632854
NM_001366385.1(CARD14):c.2929G>A (p.Asp977Asn)
NM_001366385.1(CARD14):c.2929_2940del (p.Asp977_Gly980del)
NM_001366385.1(CARD14):c.2946C>A (p.Leu982=)
NM_001366385.1(CARD14):c.2947A>G (p.Ser983Gly) rs2041462765
NM_001366385.1(CARD14):c.2949C>T (p.Ser983=) rs747407619
NM_001366385.1(CARD14):c.2957G>A (p.Arg986His)
NM_001366385.1(CARD14):c.2958C>T (p.Arg986=)
NM_001366385.1(CARD14):c.2963C>T (p.Ala988Val) rs2041464783
NM_001366385.1(CARD14):c.2967C>T (p.Ile989=)
NM_001366385.1(CARD14):c.2970C>A (p.Ala990=) rs376031523
NM_001366385.1(CARD14):c.2970C>T (p.Ala990=) rs376031523
NM_001366385.1(CARD14):c.2972A>G (p.Asp991Gly) rs2144640992
NM_001366385.1(CARD14):c.2973C>A (p.Asp991Glu)
NM_001366385.1(CARD14):c.2980AAG[1] (p.Lys995del) rs766775669
NM_001366385.1(CARD14):c.2997G>C (p.Thr999=) rs1411024608
NM_001366385.1(CARD14):c.3003G>C (p.Gln1001His)
NM_001366385.1(CARD14):c.30A>G (p.Ala10=)
NM_001366385.1(CARD14):c.322C>T (p.Pro108Ser)
NM_001366385.1(CARD14):c.333_334insCGAC (p.Phe112fs)
NM_001366385.1(CARD14):c.342C>T (p.Asn114=)
NM_001366385.1(CARD14):c.349+12G>A
NM_001366385.1(CARD14):c.349+16T>C
NM_001366385.1(CARD14):c.349+19A>G
NM_001366385.1(CARD14):c.349+1G>A rs886041402
NM_001366385.1(CARD14):c.349+20C>T
NM_001366385.1(CARD14):c.349+5G>A rs587777763
NM_001366385.1(CARD14):c.349+7G>A
NM_001366385.1(CARD14):c.349+8C>T
NM_001366385.1(CARD14):c.350-16G>C
NM_001366385.1(CARD14):c.350-16G>T
NM_001366385.1(CARD14):c.350-2A>G
NM_001366385.1(CARD14):c.350-3C>T rs1211651561
NM_001366385.1(CARD14):c.356T>A (p.Met119Lys) rs1598639584
NM_001366385.1(CARD14):c.356T>C (p.Met119Thr) rs1598639584
NM_001366385.1(CARD14):c.36G>C (p.Thr12=) rs747222317
NM_001366385.1(CARD14):c.371T>C (p.Leu124Pro) rs1598639617
NM_001366385.1(CARD14):c.376G>A (p.Glu126Lys)
NM_001366385.1(CARD14):c.376G>C (p.Glu126Gln) rs377568726
NM_001366385.1(CARD14):c.379T>A (p.Cys127Ser) rs2144183724
NM_001366385.1(CARD14):c.383T>C (p.Leu128Pro) rs2040254765
NM_001366385.1(CARD14):c.397G>T (p.Gly133Cys)
NM_001366385.1(CARD14):c.402C>A (p.Ser134Arg)
NM_001366385.1(CARD14):c.409GAG[1] (p.Glu138del) rs1390003312
NM_001366385.1(CARD14):c.40C>G (p.Leu14Val) rs1598634057
NM_001366385.1(CARD14):c.421C>G (p.Gln141Glu) rs2040255696
NM_001366385.1(CARD14):c.424G>A (p.Glu142Lys) rs281875212
NM_001366385.1(CARD14):c.425A>G (p.Glu142Gly) rs281875213
NM_001366385.1(CARD14):c.428A>C (p.Lys143Thr) rs755012349
NM_001366385.1(CARD14):c.431G>A (p.Gly144Glu)
NM_001366385.1(CARD14):c.450G>A (p.Leu150=) rs2144184850
NM_001366385.1(CARD14):c.452G>A (p.Arg151Gln)
NM_001366385.1(CARD14):c.467T>C (p.Leu156Pro) rs387907240
NM_001366385.1(CARD14):c.46G>A (p.Glu16Lys)
NM_001366385.1(CARD14):c.473A>G (p.Glu158Gly)
NM_001366385.1(CARD14):c.480G>A (p.Leu160=) rs773335030
NM_001366385.1(CARD14):c.484C>G (p.Leu162Val) rs1180184443
NM_001366385.1(CARD14):c.484C>T (p.Leu162=)
NM_001366385.1(CARD14):c.486G>A (p.Leu162=)
NM_001366385.1(CARD14):c.496C>G (p.Arg166Gly) rs751727290
NM_001366385.1(CARD14):c.497G>A (p.Arg166His) rs1005134219
NM_001366385.1(CARD14):c.49G>A (p.Glu17Lys)
NM_001366385.1(CARD14):c.4G>A (p.Gly2Arg)
NM_001366385.1(CARD14):c.501C>T (p.Ala167=) rs767412272
NM_001366385.1(CARD14):c.531C>A (p.His177Gln)
NM_001366385.1(CARD14):c.536G>T (p.Arg179Leu)
NM_001366385.1(CARD14):c.54A>G (p.Thr18=) rs748315074
NM_001366385.1(CARD14):c.556G>T (p.Ala186Ser) rs190213582
NM_001366385.1(CARD14):c.56T>C (p.Leu19Pro)
NM_001366385.1(CARD14):c.576G>A (p.Leu192=)
NM_001366385.1(CARD14):c.577A>C (p.Arg193=) rs1172101090
NM_001366385.1(CARD14):c.585G>A (p.Lys195=) rs2144187136
NM_001366385.1(CARD14):c.599G>A (p.Ser200Asn) rs114688446
NM_001366385.1(CARD14):c.599G>T (p.Ser200Ile) rs114688446
NM_001366385.1(CARD14):c.603C>T (p.Leu201=) rs752609824
NM_001366385.1(CARD14):c.611A>G (p.His204Arg)
NM_001366385.1(CARD14):c.612C>T (p.His204=) rs945254526
NM_001366385.1(CARD14):c.613T>A (p.Tyr205Asn) rs182551076
NM_001366385.1(CARD14):c.613T>C (p.Tyr205His) rs182551076
NM_001366385.1(CARD14):c.619A>G (p.Asn207Asp)
NM_001366385.1(CARD14):c.623C>A (p.Ala208Glu) rs538572480
NM_001366385.1(CARD14):c.623C>T (p.Ala208Val) rs538572480
NM_001366385.1(CARD14):c.632_633insAAAGGAGCTGGCCGCCTCTCGCTGCACTATAGCAATGCGCTGCAGGA (p.Arg220fs)
NM_001366385.1(CARD14):c.639G>A (p.Glu213=) rs1385661126
NM_001366385.1(CARD14):c.63G>A (p.Glu21=)
NM_001366385.1(CARD14):c.645C>T (p.Ala215=)
NM_001366385.1(CARD14):c.646G>T (p.Ala216Ser)
NM_001366385.1(CARD14):c.648C>T (p.Ala216=)
NM_001366385.1(CARD14):c.64A>G (p.Met22Val)
NM_001366385.1(CARD14):c.659G>A (p.Arg220His) rs888223090
NM_001366385.1(CARD14):c.659G>T (p.Arg220Leu) rs888223090
NM_001366385.1(CARD14):c.663C>T (p.Ser221=)
NM_001366385.1(CARD14):c.669G>A (p.Gln223=)
NM_001366385.1(CARD14):c.669G>C (p.Gln223His)
NM_001366385.1(CARD14):c.672G>A (p.Glu224=)
NM_001366385.1(CARD14):c.675+19C>G
NM_001366385.1(CARD14):c.675+1G>A rs2144188633
NM_001366385.1(CARD14):c.675+8G>A rs774718679
NM_001366385.1(CARD14):c.675+8G>T
NM_001366385.1(CARD14):c.675+9A>C rs2144188823
NM_001366385.1(CARD14):c.675G>A (p.Glu225=) rs1598640695
NM_001366385.1(CARD14):c.676-11C>T rs746067298
NM_001366385.1(CARD14):c.676-16C>A
NM_001366385.1(CARD14):c.676-5C>T rs2144233558
NM_001366385.1(CARD14):c.676-7C>A
NM_001366385.1(CARD14):c.676-7C>T
NM_001366385.1(CARD14):c.698T>C (p.Leu233Pro)
NM_001366385.1(CARD14):c.710A>G (p.Asn237Ser) rs2144233960
NM_001366385.1(CARD14):c.715G>A (p.Val239Ile)
NM_001366385.1(CARD14):c.727G>C (p.Glu243Gln)
NM_001366385.1(CARD14):c.760G>A (p.Ala254Thr)
NM_001366385.1(CARD14):c.764G>A (p.Ser255Asn)
NM_001366385.1(CARD14):c.768C>T (p.Asp256=)
NM_001366385.1(CARD14):c.769C>T (p.Gln257Ter) rs2144234729
NM_001366385.1(CARD14):c.773A>C (p.Glu258Ala)
NM_001366385.1(CARD14):c.797G>A (p.Arg266His)
NM_001366385.1(CARD14):c.79C>T (p.Arg27Cys) rs1244382718
NM_001366385.1(CARD14):c.801G>A (p.Leu267=)
NM_001366385.1(CARD14):c.805G>A (p.Glu269Lys) rs2040417394
NM_001366385.1(CARD14):c.807G>A (p.Glu269=)
NM_001366385.1(CARD14):c.813T>C (p.Asn271=) rs1164872829
NM_001366385.1(CARD14):c.81C>T (p.Arg27=)
NM_001366385.1(CARD14):c.827C>T (p.Ser276Leu) rs149318654
NM_001366385.1(CARD14):c.828G>C (p.Ser276=)
NM_001366385.1(CARD14):c.828G>T (p.Ser276=)
NM_001366385.1(CARD14):c.842T>C (p.Leu281Pro)
NM_001366385.1(CARD14):c.843+17G>A rs748988466
NM_001366385.1(CARD14):c.843+1G>T rs1567877527
NM_001366385.1(CARD14):c.843+5G>A rs1598649505
NM_001366385.1(CARD14):c.843+9C>T
NM_001366385.1(CARD14):c.843G>A (p.Leu281=) rs1332503520
NM_001366385.1(CARD14):c.843G>T (p.Leu281=)
NM_001366385.1(CARD14):c.844-11C>T
NM_001366385.1(CARD14):c.844-4C>T
NM_001366385.1(CARD14):c.845C>T (p.Ala282Val) rs777532053
NM_001366385.1(CARD14):c.846G>A (p.Ala282=)
NM_001366385.1(CARD14):c.854A>G (p.Asp285Gly) rs281875219
NM_001366385.1(CARD14):c.861G>A (p.Leu287=) rs2144248401
NM_001366385.1(CARD14):c.862G>C (p.Glu288Gln)
NM_001366385.1(CARD14):c.876C>A (p.Asp292Glu)
NM_001366385.1(CARD14):c.876C>T (p.Asp292=)
NM_001366385.1(CARD14):c.884G>A (p.Arg295Gln) rs768185060
NM_001366385.1(CARD14):c.892C>A (p.Arg298=)
NM_001366385.1(CARD14):c.893G>A (p.Arg298Gln) rs565172081
NM_001366385.1(CARD14):c.900G>C (p.Glu300Asp)
NM_001366385.1(CARD14):c.910C>G (p.Arg304Gly) rs752948208
NM_001366385.1(CARD14):c.910C>T (p.Arg304Cys)
NM_001366385.1(CARD14):c.921G>A (p.Ser307=) rs753922155
NM_001366385.1(CARD14):c.925C>G (p.Arg309Gly)
NM_001366385.1(CARD14):c.925C>T (p.Arg309Trp)
NM_001366385.1(CARD14):c.926G>A (p.Arg309Gln)
NM_001366385.1(CARD14):c.931C>A (p.Arg311=) rs145167842
NM_001366385.1(CARD14):c.931C>T (p.Arg311Trp) rs145167842
NM_001366385.1(CARD14):c.940del (p.Ala314fs) rs2144250004
NM_001366385.1(CARD14):c.941C>A (p.Ala314Asp)
NM_001366385.1(CARD14):c.955C>T (p.Arg319Ter) rs367867373
NM_001366385.1(CARD14):c.963+6G>C
NM_001366385.1(CARD14):c.963+6G>T
NM_001366385.1(CARD14):c.963+9dup
NM_001366385.1(CARD14):c.964-19T>A
NM_001366385.1(CARD14):c.964-3del rs751161224
NM_001366385.1(CARD14):c.970G>A (p.Glu324Lys) rs2040500502
NM_001366385.1(CARD14):c.972A>T (p.Glu324Asp)
NM_001366385.1(CARD14):c.973G>C (p.Glu325Gln) rs2144261261
NM_001366385.1(CARD14):c.977A>C (p.Lys326Thr)
NM_001366385.1(CARD14):c.99C>T (p.Cys33=)
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_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_012275.3(IL36RN):c.*1051T>C rs886054769
NM_012275.3(IL36RN):c.*106G>A rs182598494
NM_012275.3(IL36RN):c.*1405G>T rs1315608540
NM_012275.3(IL36RN):c.*1641C>G rs549754573
NM_012275.3(IL36RN):c.*1698G>A rs1379624001
NM_012275.3(IL36RN):c.*1942C>G rs886054772
NM_012275.3(IL36RN):c.*298G>A rs1685673604
NM_012275.3(IL36RN):c.*401A>C rs3180234
NM_012275.3(IL36RN):c.*401A>T rs3180234
NM_012275.3(IL36RN):c.*720G>T rs771527648
NM_012275.3(IL36RN):c.*857A>G rs886054768
NM_012275.3(IL36RN):c.*866G>A rs1685687215
NM_012275.3(IL36RN):c.-47G>A rs886054765
NM_012275.3(IL36RN):c.115+14C>T
NM_012275.3(IL36RN):c.115+4G>A rs2105068105
NM_012275.3(IL36RN):c.115+9T>C
NM_012275.3(IL36RN):c.116-11C>T
NM_012275.3(IL36RN):c.116-5C>G rs2105069232
NM_012275.3(IL36RN):c.116-6C>T
NM_012275.3(IL36RN):c.123G>C (p.Glu41Asp)
NM_012275.3(IL36RN):c.123G>T (p.Glu41Asp) rs1685653783
NM_012275.3(IL36RN):c.130G>T (p.Val44Leu)
NM_012275.3(IL36RN):c.140A>T (p.Asn47Ile)
NM_012275.3(IL36RN):c.142C>A (p.Arg48=) rs151325121
NM_012275.3(IL36RN):c.144G>C (p.Arg48=)
NM_012275.3(IL36RN):c.148C>T (p.Leu50=)
NM_012275.3(IL36RN):c.164C>T (p.Ser55Phe) rs1458580125
NM_012275.3(IL36RN):c.165C>A (p.Ser55=) rs2105069324
NM_012275.3(IL36RN):c.165C>T (p.Ser55=)
NM_012275.3(IL36RN):c.17C>T (p.Ala6Val)
NM_012275.3(IL36RN):c.184C>T (p.Gln62Ter)
NM_012275.3(IL36RN):c.18G>A (p.Ala6=) rs577280688
NM_012275.3(IL36RN):c.208T>C (p.Cys70Arg) rs375718709
NM_012275.3(IL36RN):c.210T>C (p.Cys70=)
NM_012275.3(IL36RN):c.215T>C (p.Val72Ala)
NM_012275.3(IL36RN):c.243+16T>C rs2105069464
NM_012275.3(IL36RN):c.244-10C>A
NM_012275.3(IL36RN):c.244-13C>A rs762586699
NM_012275.3(IL36RN):c.244-17C>T
NM_012275.3(IL36RN):c.244-9_244-6del rs749941611
NM_012275.3(IL36RN):c.253A>G (p.Ile85Val) rs2105069719
NM_012275.3(IL36RN):c.266A>G (p.Tyr89Cys) rs1213179423
NM_012275.3(IL36RN):c.275C>T (p.Ala92Val) rs1685662918
NM_012275.3(IL36RN):c.282A>G (p.Glu94=)
NM_012275.3(IL36RN):c.29+15C>A rs1476532102
NM_012275.3(IL36RN):c.29+15C>G rs1476532102
NM_012275.3(IL36RN):c.29+5G>A rs1685595922
NM_012275.3(IL36RN):c.29+6T>C rs1685595982
NM_012275.3(IL36RN):c.29+7G>A
NM_012275.3(IL36RN):c.291C>A (p.Ser97Arg)
NM_012275.3(IL36RN):c.30-13C>T
NM_012275.3(IL36RN):c.30-14T>A rs886054766
NM_012275.3(IL36RN):c.30-18C>A
NM_012275.3(IL36RN):c.30-1G>T
NM_012275.3(IL36RN):c.30-2A>G
NM_012275.3(IL36RN):c.305G>A (p.Arg102Gln)
NM_012275.3(IL36RN):c.307C>A (p.Arg103=)
NM_012275.3(IL36RN):c.322A>T (p.Thr108Ser)
NM_012275.3(IL36RN):c.329del (p.Ser110fs) rs2105069859
NM_012275.3(IL36RN):c.338C>A (p.Ser113Ter)
NM_012275.3(IL36RN):c.348C>T (p.Tyr116=) rs1383851199
NM_012275.3(IL36RN):c.350C>A (p.Pro117Gln)
NM_012275.3(IL36RN):c.366C>T (p.Cys122=)
NM_012275.3(IL36RN):c.368C>G (p.Thr123Arg) rs397514629
NM_012275.3(IL36RN):c.369G>A (p.Thr123=) rs28938778
NM_012275.3(IL36RN):c.387G>A (p.Gln129=) rs1685666198
NM_012275.3(IL36RN):c.398_413del (p.Leu133fs) rs779718440
NM_012275.3(IL36RN):c.40T>G (p.Ser14Ala) rs1191516439
NM_012275.3(IL36RN):c.418G>A (p.Gly140Ser)
NM_012275.3(IL36RN):c.418G>T (p.Gly140Cys) rs1415006327
NM_012275.3(IL36RN):c.420_426del (p.Gly141fs)
NM_012275.3(IL36RN):c.421G>A (p.Gly141Ser) rs1424377493
NM_012275.3(IL36RN):c.422G>A (p.Gly141Asp) rs758533837
NM_012275.3(IL36RN):c.42G>A (p.Ser14=)
NM_012275.3(IL36RN):c.435C>T (p.Pro145=)
NM_012275.3(IL36RN):c.441A>G (p.Thr147=)
NM_012275.3(IL36RN):c.91C>A (p.Leu31Met)
NM_012275.3(IL36RN):c.97G>A (p.Ala33Thr)
NM_013447.4(ADGRE2):c.1475G>A (p.Cys492Tyr) rs199718602
NM_013447.4(ADGRE2):c.1693_1709del (p.Gln565fs) rs375427337
NM_013451.4(MYOF):c.1679A>C (p.Asp560Ala)
NM_014339.7(IL17RA):c.1173C>G (p.Tyr391Ter) rs761716238
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) rs1014959895
NM_173170.1(IL36RN):c.-27-299G>C rs552166255
NM_206927.4(SYTL2):c.893del (p.Ser298fs) rs1057519445

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