ClinVar Miner

List of variants reported as uncertain significance for autoimmune disease by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2154
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser) rs113107733 0.00051
NM_007315.4(STAT1):c.1591G>A (p.Ala531Thr) rs148573907 0.00048
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) rs112741962 0.00047
NM_007315.4(STAT1):c.722G>A (p.Arg241Gln) rs146273341 0.00042
NM_000639.3(FASLG):c.364C>A (p.His122Asn) rs140406512 0.00034
NM_032977.4(CASP10):c.1202_1208del (p.Cys401fs) rs747900630 0.00033
NM_000383.4(AIRE):c.457A>G (p.Ser153Gly) rs200377867 0.00032
NM_000383.4(AIRE):c.982C>T (p.Arg328Trp) rs74162063 0.00028
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856 0.00026
NM_000639.3(FASLG):c.360G>C (p.Gln120His) rs372615226 0.00026
NM_032977.4(CASP10):c.683C>T (p.Pro228Leu) rs143882052 0.00025
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946 0.00024
NM_000383.4(AIRE):c.793G>A (p.Ala265Thr) rs140835367 0.00024
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn) rs146810389 0.00023
NM_032977.4(CASP10):c.953G>A (p.Gly318Glu) rs138931498 0.00022
NM_005214.5(CTLA4):c.23G>A (p.Arg8Gln) rs138279736 0.00021
NM_005214.5(CTLA4):c.326G>A (p.Gly109Glu) rs144988077 0.00021
NM_000383.4(AIRE):c.169C>G (p.Gln57Glu) rs200955183 0.00020
NM_032977.4(CASP10):c.853C>T (p.Leu285Phe) rs17860403 0.00020
NM_001372051.1(CASP8):c.443A>G (p.Lys148Arg) rs148697064 0.00019
NM_006254.4(PRKCD):c.1352+4C>T rs202155309 0.00019
NM_000043.6(FAS):c.914C>T (p.Thr305Ile) rs3218611 0.00018
NM_000383.4(AIRE):c.1244A>G (p.His415Arg) rs149609996 0.00017
NM_000383.4(AIRE):c.538+6C>T rs371847563 0.00017
NM_001372051.1(CASP8):c.432A>G (p.Ile144Met) rs149933993 0.00017
NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp) rs376901046 0.00016
NM_000383.4(AIRE):c.748A>T (p.Ser250Cys) rs141480813 0.00016
NM_000383.4(AIRE):c.1312G>A (p.Gly438Arg) rs553396434 0.00015
NM_032977.4(CASP10):c.913A>G (p.Lys305Glu) rs149912574 0.00015
NM_000383.4(AIRE):c.1477G>A (p.Ala493Thr) rs561652010 0.00014
NM_000383.4(AIRE):c.538G>A (p.Gly180Arg) rs200899780 0.00014
NM_001370466.1(NOD2):c.2065C>T (p.Arg689Cys) rs776025574 0.00014
NM_001370466.1(NOD2):c.2149C>T (p.Arg717Trp) rs140876663 0.00014
NM_001370466.1(NOD2):c.2465+2dup rs748508924 0.00014
NM_007315.4(STAT1):c.1363G>A (p.Val455Ile) rs371982540 0.00014
NM_007315.4(STAT1):c.1632+6G>A rs185216067 0.00014
NM_032977.4(CASP10):c.1297G>A (p.Glu433Lys) rs200540853 0.00014
NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys) rs104895422 0.00013
NM_032977.4(CASP10):c.259C>T (p.Arg87Trp) rs551818122 0.00013
NM_000383.4(AIRE):c.560C>T (p.Ser187Leu) rs143952576 0.00012
NM_032977.4(CASP10):c.797C>T (p.Ser266Phe) rs148554420 0.00012
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) rs370504038 0.00012
NM_000043.6(FAS):c.956C>T (p.Thr319Ile) rs372459755 0.00011
NM_000383.4(AIRE):c.1235C>T (p.Ser412Leu) rs368331265 0.00011
NM_001370466.1(NOD2):c.-8-2243T>C rs765406921 0.00011
NM_001370466.1(NOD2):c.1709C>T (p.Ala570Val) rs377554134 0.00011
NM_001370466.1(NOD2):c.2840C>T (p.Ser947Phe) rs200463498 0.00011
NM_006254.4(PRKCD):c.1928G>A (p.Arg643His) rs369041593 0.00011
NM_032977.4(CASP10):c.922+5G>A rs559244194 0.00011
NM_000383.4(AIRE):c.1115C>T (p.Ser372Leu) rs202237214 0.00010
NM_000383.4(AIRE):c.1450G>A (p.Val484Met) rs367966318 0.00010
NM_000383.4(AIRE):c.927C>G (p.Ile309Met) rs74162062 0.00010
NM_000639.3(FASLG):c.466A>G (p.Arg156Gly) rs80358238 0.00010
NM_001370466.1(NOD2):c.332G>A (p.Arg111Gln) rs104895456 0.00010
NM_007315.4(STAT1):c.1341C>A (p.Asp447Glu) rs140351189 0.00010
NM_032977.4(CASP10):c.1537T>C (p.Phe513Leu) rs143632134 0.00010
NM_000043.6(FAS):c.251C>T (p.Pro84Leu) rs778483787 0.00009
NM_000043.6(FAS):c.38C>T (p.Thr13Met) rs372880667 0.00009
NM_000383.4(AIRE):c.485C>T (p.Pro162Leu) rs138949170 0.00009
NM_000383.4(AIRE):c.520C>T (p.Arg174Cys) rs752687905 0.00009
NM_001370466.1(NOD2):c.1943C>T (p.Ala648Val) rs138958152 0.00009
NM_001370466.1(NOD2):c.590C>T (p.Ala197Val) rs375336137 0.00009
NM_006254.4(PRKCD):c.1706G>A (p.Arg569His) rs138712106 0.00009
NM_006254.4(PRKCD):c.787+4C>T rs575167797 0.00009
NM_006254.4(PRKCD):c.949G>A (p.Glu317Lys) rs55929201 0.00009
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) rs146524913 0.00009
NM_033629.6(TREX1):c.728C>G (p.Pro243Arg) rs776094274 0.00009
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715 0.00009
NM_000043.6(FAS):c.961G>A (p.Asp321Asn) rs137898188 0.00008
NM_000383.4(AIRE):c.659C>T (p.Ser220Phe) rs753236604 0.00008
NM_001370466.1(NOD2):c.1745T>G (p.Phe582Cys) rs777798807 0.00008
NM_001370466.1(NOD2):c.2290C>T (p.Arg764Trp) rs104895484 0.00008
NM_001370466.1(NOD2):c.2446G>A (p.Glu816Lys) rs104895445 0.00008
NM_006254.4(PRKCD):c.1927C>T (p.Arg643Cys) rs778015441 0.00008
NM_032977.4(CASP10):c.684+1G>A rs372539994 0.00008
NM_000383.4(AIRE):c.1094C>T (p.Pro365Leu) rs374475349 0.00007
NM_000383.4(AIRE):c.137C>T (p.Thr46Met) rs758870962 0.00007
NM_001370466.1(NOD2):c.1528C>T (p.Pro510Ser) rs767197520 0.00007
NM_001370466.1(NOD2):c.623G>A (p.Arg208His) rs201790577 0.00007
NM_001370466.1(NOD2):c.638A>G (p.Tyr213Cys) rs202190367 0.00007
NM_005214.5(CTLA4):c.565A>G (p.Met189Val) rs199912925 0.00007
NM_005214.5(CTLA4):c.94C>T (p.Pro32Ser) rs369567630 0.00007
NM_007315.4(STAT1):c.1127+4C>T rs372508550 0.00007
NM_000383.4(AIRE):c.1103C>T (p.Pro368Leu) rs552129156 0.00006
NM_000383.4(AIRE):c.1168A>G (p.Thr390Ala) rs771790456 0.00006
NM_000383.4(AIRE):c.608G>A (p.Arg203Gln) rs200359179 0.00006
NM_000639.3(FASLG):c.173C>T (p.Pro58Leu) rs558758285 0.00006
NM_000639.3(FASLG):c.749A>G (p.Asn250Ser) rs376317481 0.00006
NM_001370466.1(NOD2):c.2497G>A (p.Ala833Thr) rs754270929 0.00006
NM_001370466.1(NOD2):c.2690G>A (p.Gly897Asp) rs104895453 0.00006
NM_001370466.1(NOD2):c.2693A>G (p.Asp898Gly) rs545734771 0.00006
NM_001370466.1(NOD2):c.2717+2T>A rs1309535620 0.00006
NM_001372051.1(CASP8):c.159G>A (p.Met53Ile) rs200261147 0.00006
NM_005214.5(CTLA4):c.257C>T (p.Ala86Val) rs376038796 0.00006
NM_005214.5(CTLA4):c.4G>T (p.Ala2Ser) rs767352102 0.00006
NM_006254.4(PRKCD):c.961G>A (p.Gly321Arg) rs372047510 0.00006
NM_007315.4(STAT1):c.1090T>C (p.Phe364Leu) rs759722579 0.00006
NM_007315.4(STAT1):c.542-3T>C rs377490932 0.00006
NM_032977.4(CASP10):c.620C>T (p.Ser207Leu) rs770997816 0.00006
NM_033629.6(TREX1):c.337C>T (p.Arg113Trp) rs759594113 0.00006
NM_033629.6(TREX1):c.346C>G (p.Pro116Ala) rs761651331 0.00006
NM_000043.6(FAS):c.667A>C (p.Asn223His) rs143318339 0.00005
NM_000383.4(AIRE):c.1048C>T (p.Pro350Ser) rs554591629 0.00005
NM_000383.4(AIRE):c.1367G>A (p.Arg456His) rs554954634 0.00005
NM_000639.3(FASLG):c.278C>T (p.Ala93Val) rs758796005 0.00005
NM_001370466.1(NOD2):c.-8-2238G>C rs976567823 0.00005
NM_001370466.1(NOD2):c.1037G>A (p.Arg346His) rs764176270 0.00005
NM_001370466.1(NOD2):c.1085C>T (p.Thr362Met) rs528926956 0.00005
NM_001370466.1(NOD2):c.1450A>G (p.Thr484Ala) rs759153904 0.00005
NM_001370466.1(NOD2):c.1546C>T (p.Arg516Cys) rs545580252 0.00005
NM_001370466.1(NOD2):c.1679G>A (p.Arg560His) rs373185098 0.00005
NM_001370466.1(NOD2):c.2287C>T (p.Arg763Trp) rs62029861 0.00005
NM_001370466.1(NOD2):c.2776A>G (p.Lys926Glu) rs375705174 0.00005
NM_001370466.1(NOD2):c.377T>G (p.Leu126Arg) rs867184583 0.00005
NM_001372051.1(CASP8):c.1169C>T (p.Thr390Met) rs373673288 0.00005
NM_007315.4(STAT1):c.172C>T (p.His58Tyr) rs751586208 0.00005
NM_014009.4(FOXP3):c.816+6C>T rs781919619 0.00005
NM_032977.4(CASP10):c.1415+1G>A rs757635087 0.00005
NM_033629.6(TREX1):c.1A>G (p.Met1Val) rs761165865 0.00005
NM_033629.6(TREX1):c.338G>A (p.Arg113Gln) rs201496629 0.00005
NM_000383.4(AIRE):c.1081C>T (p.Pro361Ser) rs1267538837 0.00004
NM_000383.4(AIRE):c.1348G>A (p.Ala450Thr) rs758446796 0.00004
NM_000383.4(AIRE):c.1403C>T (p.Thr468Met) rs775349581 0.00004
NM_000383.4(AIRE):c.166C>T (p.Pro56Ser) rs753460287 0.00004
NM_000383.4(AIRE):c.347C>T (p.Pro116Leu) rs151049459 0.00004
NM_000383.4(AIRE):c.352G>A (p.Val118Ile) rs370599883 0.00004
NM_000383.4(AIRE):c.488C>A (p.Pro163His) rs771592755 0.00004
NM_000383.4(AIRE):c.655G>A (p.Gly219Ser) rs139620961 0.00004
NM_000383.4(AIRE):c.73G>C (p.Ala25Pro) rs761025044 0.00004
NM_000383.4(AIRE):c.740G>A (p.Arg247His) rs763487370 0.00004
NM_000383.4(AIRE):c.947G>A (p.Arg316Gln) rs202027254 0.00004
NM_000639.3(FASLG):c.109C>G (p.Pro37Ala) rs145731782 0.00004
NM_000639.3(FASLG):c.176C>T (p.Pro59Leu) rs375737004 0.00004
NM_000639.3(FASLG):c.394+3G>A rs376383896 0.00004
NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val) rs769622495 0.00004
NM_001370466.1(NOD2):c.1178G>A (p.Arg393His) rs199475913 0.00004
NM_001370466.1(NOD2):c.1196G>A (p.Arg399His) rs562225614 0.00004
NM_001370466.1(NOD2):c.1198C>T (p.Pro400Ser) rs760982375 0.00004
NM_001370466.1(NOD2):c.1234C>T (p.Arg412Cys) rs375201229 0.00004
NM_001370466.1(NOD2):c.1322G>A (p.Arg441His) rs775728252 0.00004
NM_001370466.1(NOD2):c.1706C>T (p.Thr569Met) rs142077546 0.00004
NM_001370466.1(NOD2):c.178C>T (p.Arg60Cys) rs374128251 0.00004
NM_001370466.1(NOD2):c.1819A>G (p.Arg607Gly) rs970949991 0.00004
NM_001370466.1(NOD2):c.1918G>A (p.Glu640Lys) rs774425599 0.00004
NM_001370466.1(NOD2):c.1950C>G (p.Phe650Leu) rs374116563 0.00004
NM_001370466.1(NOD2):c.1A>G (p.Met1Val) rs372321755 0.00004
NM_001370466.1(NOD2):c.2024G>A (p.Arg675Gln) rs139104022 0.00004
NM_001370466.1(NOD2):c.2116G>A (p.Val706Met) rs746055479 0.00004
NM_001370466.1(NOD2):c.2185C>T (p.Arg729Trp) rs376201089 0.00004
NM_001370466.1(NOD2):c.2198G>A (p.Arg733His) rs763955590 0.00004
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe) rs773758818 0.00004
NM_001370466.1(NOD2):c.2407C>T (p.Arg803Ter) rs760623178 0.00004
NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln) rs770915641 0.00004
NM_001370466.1(NOD2):c.2465+6T>A rs201329309 0.00004
NM_001370466.1(NOD2):c.2558A>G (p.Asn853Ser) rs374506720 0.00004
NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu) rs104895457 0.00004
NM_001370466.1(NOD2):c.2917G>A (p.Ala973Thr) rs1282634444 0.00004
NM_001370466.1(NOD2):c.417A>T (p.Glu139Asp) rs749605438 0.00004
NM_001370466.1(NOD2):c.509C>A (p.Ala170Asp) rs373838219 0.00004
NM_001370466.1(NOD2):c.605C>T (p.Thr202Met) rs529640892 0.00004
NM_001370466.1(NOD2):c.631A>G (p.Ser211Gly) rs1001861018 0.00004
NM_001370466.1(NOD2):c.653C>T (p.Thr218Met) rs148516118 0.00004
NM_001370466.1(NOD2):c.769A>G (p.Thr257Ala) rs369740939 0.00004
NM_001370466.1(NOD2):c.821C>T (p.Ala274Val) rs104895426 0.00004
NM_001370466.1(NOD2):c.956G>A (p.Arg319Gln) rs759520552 0.00004
NM_001372051.1(CASP8):c.431T>C (p.Ile144Thr) rs142688117 0.00004
NM_001372051.1(CASP8):c.667G>A (p.Asp223Asn) rs772942337 0.00004
NM_005214.5(CTLA4):c.312G>A (p.Thr104=) rs770065318 0.00004
NM_006254.4(PRKCD):c.373G>A (p.Val125Met) rs370069134 0.00004
NM_006254.4(PRKCD):c.44G>C (p.Gly15Ala) rs369358922 0.00004
NM_007315.4(STAT1):c.1856G>A (p.Arg619Gln) rs369060692 0.00004
NM_007315.4(STAT1):c.429C>G (p.Asp143Glu) rs780853224 0.00004
NM_007315.4(STAT1):c.992G>A (p.Arg331Lys) rs533671897 0.00004
NM_014009.4(FOXP3):c.152G>A (p.Arg51Gln) rs1170772176 0.00004
NM_014009.4(FOXP3):c.253C>T (p.Arg85Trp) rs376715533 0.00004
NM_014009.4(FOXP3):c.926G>A (p.Arg309Gln) rs782731811 0.00004
NM_032977.4(CASP10):c.1093del (p.Tyr365fs) rs781003519 0.00004
NM_032977.4(CASP10):c.1466G>A (p.Arg489Gln) rs535121774 0.00004
NM_032977.4(CASP10):c.20A>G (p.His7Arg) rs200935960 0.00004
NM_032977.4(CASP10):c.310C>T (p.Arg104Ter) rs779212325 0.00004
NM_032977.4(CASP10):c.507C>G (p.Cys169Trp) rs774005416 0.00004
NM_032977.4(CASP10):c.553A>G (p.Ile185Val) rs369231920 0.00004
NM_032977.4(CASP10):c.577+3A>G rs780947440 0.00004
NM_033629.6(TREX1):c.197A>G (p.Lys66Arg) rs188508043 0.00004
NM_033629.6(TREX1):c.247G>A (p.Glu83Lys) rs745434375 0.00004
NM_033629.6(TREX1):c.250A>G (p.Ile84Val) rs775075513 0.00004
NM_033629.6(TREX1):c.296G>A (p.Cys99Tyr) rs778869156 0.00004
NM_033629.6(TREX1):c.473C>T (p.Ala158Val) rs762011967 0.00004
NM_033629.6(TREX1):c.581C>T (p.Ser194Leu) rs531702332 0.00004
NM_033629.6(TREX1):c.8C>T (p.Ser3Leu) rs140029866 0.00004
NM_000043.6(FAS):c.196+3A>C rs370162732 0.00003
NM_000043.6(FAS):c.247G>A (p.Val83Met) rs199790261 0.00003
NM_000043.6(FAS):c.488C>T (p.Thr163Ile) rs563551720 0.00003
NM_000043.6(FAS):c.867A>C (p.Glu289Asp) rs377337130 0.00003
NM_000043.6(FAS):c.976A>C (p.Asn326His) rs770595930 0.00003
NM_000043.6(FAS):c.97A>G (p.Lys33Glu) rs55766344 0.00003
NM_000383.4(AIRE):c.1031C>T (p.Thr344Ile) rs929430876 0.00003
NM_000383.4(AIRE):c.1481G>A (p.Arg494His) rs528762050 0.00003
NM_000383.4(AIRE):c.872T>C (p.Leu291Pro) rs767272852 0.00003
NM_000383.4(AIRE):c.979C>A (p.Leu327Ile) rs1029648118 0.00003
NM_000639.3(FASLG):c.152C>T (p.Pro51Leu) rs61761322 0.00003
NM_000639.3(FASLG):c.179C>T (p.Pro60Leu) rs780144691 0.00003
NM_000639.3(FASLG):c.323A>G (p.Gln108Arg) rs369342226 0.00003
NM_000639.3(FASLG):c.49A>C (p.Ser17Arg) rs777720730 0.00003
NM_000639.3(FASLG):c.532A>G (p.Lys178Glu) rs772212573 0.00003
NM_001370466.1(NOD2):c.134A>G (p.Glu45Gly) rs138881230 0.00003
NM_001370466.1(NOD2):c.1378G>A (p.Val460Ile) rs908626604 0.00003
NM_001370466.1(NOD2):c.1865T>C (p.Ile622Thr) rs367637762 0.00003
NM_001370466.1(NOD2):c.1994A>G (p.Glu665Gly) rs766687492 0.00003
NM_001370466.1(NOD2):c.2027G>A (p.Arg676His) rs750096604 0.00003
NM_001370466.1(NOD2):c.230T>C (p.Ile77Thr) rs912789864 0.00003
NM_001370466.1(NOD2):c.2393A>G (p.Asn798Ser) rs747787438 0.00003
NM_001370466.1(NOD2):c.2426T>C (p.Ile809Thr) rs763192145 0.00003
NM_001370466.1(NOD2):c.2465+1G>A rs373550987 0.00003
NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val) rs104895486 0.00003
NM_001370466.1(NOD2):c.256G>A (p.Asp86Asn) rs104895468 0.00003
NM_001370466.1(NOD2):c.2572G>C (p.Ala858Pro) rs759456303 0.00003
NM_001370466.1(NOD2):c.313C>T (p.Arg105Ter) rs757487598 0.00003
NM_001370466.1(NOD2):c.616C>T (p.Gln206Ter) rs781333877 0.00003
NM_001370466.1(NOD2):c.617A>C (p.Gln206Pro) rs369098290 0.00003
NM_001370466.1(NOD2):c.845T>C (p.Leu282Pro) rs767225117 0.00003
NM_001370466.1(NOD2):c.907C>T (p.Pro303Ser) rs773132030 0.00003
NM_001370466.1(NOD2):c.947T>C (p.Leu316Pro) rs369732140 0.00003
NM_001372051.1(CASP8):c.1048G>A (p.Gly350Arg) rs202185417 0.00003
NM_001372051.1(CASP8):c.919A>G (p.Met307Val) rs148960588 0.00003
NM_005214.5(CTLA4):c.22C>T (p.Arg8Trp) rs201778935 0.00003
NM_005214.5(CTLA4):c.268A>G (p.Met90Val) rs370443546 0.00003
NM_006254.4(PRKCD):c.1342T>A (p.Tyr448Asn) rs141979341 0.00003
NM_006254.4(PRKCD):c.657+3G>A rs199785209 0.00003
NM_006254.4(PRKCD):c.715A>G (p.Met239Val) rs369236318 0.00003
NM_006254.4(PRKCD):c.799A>C (p.Asn267His) rs1371733624 0.00003
NM_007315.4(STAT1):c.1431G>A (p.Leu477=) rs1384090178 0.00003
NM_007315.4(STAT1):c.1632+5G>A rs761686482 0.00003
NM_007315.4(STAT1):c.2059+5G>A rs757528949 0.00003
NM_007315.4(STAT1):c.2087C>A (p.Pro696His) rs138723664 0.00003
NM_007315.4(STAT1):c.541+6G>C rs775498408 0.00003
NM_007315.4(STAT1):c.898G>C (p.Val300Leu) rs143131630 0.00003
NM_014009.4(FOXP3):c.1106G>A (p.Arg369His) rs782443295 0.00003
NM_014009.4(FOXP3):c.773C>T (p.Ala258Val) rs369698589 0.00003
NM_032977.4(CASP10):c.163T>C (p.Ser55Pro) rs773417904 0.00003
NM_032977.4(CASP10):c.314T>C (p.Leu105Pro) rs200530667 0.00003
NM_032977.4(CASP10):c.440T>C (p.Met147Thr) rs121909776 0.00003
NM_032977.4(CASP10):c.555A>G (p.Ile185Met) rs758869726 0.00003
NM_032977.4(CASP10):c.879C>A (p.Ser293Arg) rs369897442 0.00003
NM_032977.4(CASP10):c.89A>T (p.Asn30Ile) rs201782416 0.00003
NM_033629.6(TREX1):c.649C>T (p.Arg217Trp) rs201068640 0.00003
NM_033629.6(TREX1):c.690G>C (p.Arg230Ser) rs55691060 0.00003
NM_033629.6(TREX1):c.719G>A (p.Arg240Lys) rs745707260 0.00003
NM_033629.6(TREX1):c.73C>A (p.Pro25Thr) rs748145509 0.00003
NM_000043.6(FAS):c.347A>G (p.Glu116Gly) rs749714005 0.00002
NM_000043.6(FAS):c.628C>T (p.His210Tyr) rs1428151683 0.00002
NM_000043.6(FAS):c.943C>T (p.Leu315Phe) rs1475820915 0.00002
NM_000383.4(AIRE):c.108C>A (p.Asp36Glu) rs758891043 0.00002
NM_000383.4(AIRE):c.1193C>T (p.Pro398Leu) rs754391375 0.00002
NM_000383.4(AIRE):c.1333C>T (p.Arg445Trp) rs921069738 0.00002
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln) rs753878067 0.00002
NM_000383.4(AIRE):c.1370G>A (p.Cys457Tyr) rs373383785 0.00002
NM_000383.4(AIRE):c.1454A>T (p.Glu485Val) rs779510704 0.00002
NM_000383.4(AIRE):c.1516A>G (p.Ser506Gly) rs201602355 0.00002
NM_000383.4(AIRE):c.1612C>T (p.Arg538Cys) rs1416029492 0.00002
NM_000383.4(AIRE):c.790G>A (p.Ala264Thr) rs746154390 0.00002
NM_000639.3(FASLG):c.137C>T (p.Pro46Leu) rs779382158 0.00002
NM_000639.3(FASLG):c.344G>A (p.Arg115Gln) rs1023476500 0.00002
NM_000639.3(FASLG):c.497A>G (p.Tyr166Cys) rs760432021 0.00002
NM_001370466.1(NOD2):c.-8-2171G>A rs571559366 0.00002
NM_001370466.1(NOD2):c.1003del (p.Asp335fs) rs766265864 0.00002
NM_001370466.1(NOD2):c.1030C>G (p.Pro344Ala) rs775443143 0.00002
NM_001370466.1(NOD2):c.1087G>A (p.Asp363Asn) rs147283871 0.00002
NM_001370466.1(NOD2):c.1124C>T (p.Ser375Phe) rs753241960 0.00002
NM_001370466.1(NOD2):c.119C>G (p.Ser40Cys) rs146149433 0.00002
NM_001370466.1(NOD2):c.1321C>T (p.Arg441Cys) rs769988393 0.00002
NM_001370466.1(NOD2):c.1340A>G (p.Gln447Arg) rs367819045 0.00002
NM_001370466.1(NOD2):c.1754C>T (p.Ala585Val) rs104895439 0.00002
NM_001370466.1(NOD2):c.1876G>C (p.Glu626Gln) rs757895989 0.00002
NM_001370466.1(NOD2):c.1923del (p.His642fs) rs758485603 0.00002
NM_001370466.1(NOD2):c.2056C>T (p.Arg686Cys) rs104895440 0.00002
NM_001370466.1(NOD2):c.2528G>A (p.Arg843Lys) rs768889214 0.00002
NM_001370466.1(NOD2):c.2792A>G (p.Glu931Gly) rs746965976 0.00002
NM_001370466.1(NOD2):c.2802-2A>G rs564226539 0.00002
NM_001370466.1(NOD2):c.815G>A (p.Gly272Asp) rs771184127 0.00002
NM_001372051.1(CASP8):c.120T>G (p.Asp40Glu) rs759793127 0.00002
NM_001372051.1(CASP8):c.1310A>T (p.Asp437Val) rs561729612 0.00002
NM_001372051.1(CASP8):c.306-1915A>G rs761301334 0.00002
NM_001372051.1(CASP8):c.306-1935G>A rs774427459 0.00002
NM_001372051.1(CASP8):c.660+6C>T rs370400442 0.00002
NM_001372051.1(CASP8):c.94C>G (p.Gln32Glu) rs999368756 0.00002
NM_005214.5(CTLA4):c.110-3T>C rs773279316 0.00002
NM_006254.4(PRKCD):c.1060G>A (p.Val354Ile) rs782601434 0.00002
NM_006254.4(PRKCD):c.1491G>T (p.Glu497Asp) rs781785325 0.00002
NM_006254.4(PRKCD):c.1511G>A (p.Arg504Gln) rs781836069 0.00002
NM_006254.4(PRKCD):c.1981G>A (p.Ala661Thr) rs149202171 0.00002
NM_006254.4(PRKCD):c.2003C>A (p.Pro668His) rs782557014 0.00002
NM_006254.4(PRKCD):c.604G>A (p.Asp202Asn) rs149165175 0.00002
NM_006254.4(PRKCD):c.647G>A (p.Arg216Gln) rs782428011 0.00002
NM_007315.4(STAT1):c.1349C>T (p.Thr450Met) rs527393923 0.00002
NM_007315.4(STAT1):c.670A>T (p.Thr224Ser) rs771750276 0.00002
NM_007315.4(STAT1):c.972C>T (p.Cys324=) rs1181331709 0.00002
NM_014009.4(FOXP3):c.140G>T (p.Gly47Val) rs1432262933 0.00002
NM_014009.4(FOXP3):c.157G>A (p.Gly53Arg) rs587780340 0.00002
NM_014009.4(FOXP3):c.254G>A (p.Arg85Gln) rs782628979 0.00002
NM_014009.4(FOXP3):c.437G>A (p.Arg146Gln) rs1557116525 0.00002
NM_014009.4(FOXP3):c.439C>G (p.Pro147Ala) rs781856708 0.00002
NM_014009.4(FOXP3):c.505T>C (p.Cys169Arg) rs1237648287 0.00002
NM_014009.4(FOXP3):c.70C>T (p.Pro24Ser) rs1557116742 0.00002
NM_014009.4(FOXP3):c.824C>T (p.Ser275Phe) rs1395972442 0.00002
NM_014009.4(FOXP3):c.836C>T (p.Ser279Phe) rs781902347 0.00002
NM_014009.4(FOXP3):c.977A>G (p.His326Arg) rs782429831 0.00002
NM_032977.4(CASP10):c.325C>T (p.Arg109Ter) rs201601111 0.00002
NM_032977.4(CASP10):c.347+2T>G rs536573363 0.00002
NM_032977.4(CASP10):c.554T>G (p.Ile185Arg) rs753049035 0.00002
NM_032977.4(CASP10):c.596C>T (p.Pro199Leu) rs200079223 0.00002
NM_032977.4(CASP10):c.61C>T (p.Arg21Cys) rs559979934 0.00002
NM_033629.6(TREX1):c.286G>A (p.Gly96Arg) rs921270646 0.00002
NM_033629.6(TREX1):c.383G>A (p.Arg128His) rs751124579 0.00002
NM_033629.6(TREX1):c.393C>G (p.Phe131Leu) rs749667732 0.00002
NM_033629.6(TREX1):c.394C>T (p.Pro132Ser) rs200510205 0.00002
NM_033629.6(TREX1):c.553C>T (p.Arg185Cys) rs145721839 0.00002
NM_033629.6(TREX1):c.628T>C (p.Trp210Arg) rs770775387 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_033629.6(TREX1):c.869C>T (p.Pro290Leu) rs148833270 0.00002
NM_000043.6(FAS):c.163G>C (p.Asp55His) rs148677058 0.00001
NM_000043.6(FAS):c.217T>G (p.Cys73Gly) rs751654768 0.00001
NM_000043.6(FAS):c.334+3A>C rs1848316496 0.00001
NM_000043.6(FAS):c.379T>G (p.Cys127Gly) rs1848386782 0.00001
NM_000043.6(FAS):c.432C>A (p.Asp144Glu) rs574338716 0.00001
NM_000043.6(FAS):c.524G>A (p.Gly175Glu) rs752208395 0.00001
NM_000043.6(FAS):c.533G>A (p.Cys178Tyr) rs372866793 0.00001
NM_000043.6(FAS):c.608G>T (p.Arg203Ile) rs756880278 0.00001
NM_000043.6(FAS):c.637C>T (p.Pro213Ser) rs755532307 0.00001
NM_000043.6(FAS):c.666A>G (p.Ile222Met) rs767806688 0.00001
NM_000043.6(FAS):c.674C>G (p.Ser225Cys) rs1848626473 0.00001
NM_000043.6(FAS):c.694T>C (p.Tyr232His) rs767866112 0.00001
NM_000043.6(FAS):c.700A>G (p.Thr234Ala) rs962274229 0.00001
NM_000043.6(FAS):c.79G>A (p.Val27Met) rs201624874 0.00001
NM_000043.6(FAS):c.885T>G (p.Ile295Met) rs1170990745 0.00001
NM_000043.6(FAS):c.937A>G (p.Ile313Val) rs751341397 0.00001
NM_000043.6(FAS):c.950A>G (p.Asp317Gly) rs200864612 0.00001
NM_000043.6(FAS):c.95C>A (p.Ser32Tyr) rs866603022 0.00001
NM_000383.4(AIRE):c.1015A>G (p.Ser339Gly) rs919219488 0.00001
NM_000383.4(AIRE):c.1063C>A (p.Pro355Thr) rs1405678537 0.00001
NM_000383.4(AIRE):c.1063C>T (p.Pro355Ser) rs1405678537 0.00001
NM_000383.4(AIRE):c.1069C>T (p.Pro357Ser) rs200540137 0.00001
NM_000383.4(AIRE):c.1095+5G>T rs1057522692 0.00001
NM_000383.4(AIRE):c.10G>A (p.Asp4Asn) rs1014398252 0.00001
NM_000383.4(AIRE):c.1132A>G (p.Arg378Gly) rs758775963 0.00001
NM_000383.4(AIRE):c.1142C>T (p.Pro381Leu) rs145243072 0.00001
NM_000383.4(AIRE):c.118G>C (p.Glu40Gln) rs867495755 0.00001
NM_000383.4(AIRE):c.1210G>A (p.Ala404Thr) rs1340047804 0.00001
NM_000383.4(AIRE):c.1214C>T (p.Pro405Leu) rs769719554 0.00001
NM_000383.4(AIRE):c.1223G>C (p.Gly408Ala) rs751963717 0.00001
NM_000383.4(AIRE):c.1243C>T (p.His415Tyr) rs752398254 0.00001
NM_000383.4(AIRE):c.1246C>T (p.Pro416Ser) rs199621393 0.00001
NM_000383.4(AIRE):c.1271G>A (p.Gly424Asp) rs1208287091 0.00001
NM_000383.4(AIRE):c.1278+6C>T rs372612211 0.00001
NM_000383.4(AIRE):c.1289C>T (p.Pro430Leu) rs751271727 0.00001
NM_000383.4(AIRE):c.1294G>A (p.Ala432Thr) rs1296392334 0.00001
NM_000383.4(AIRE):c.1295C>T (p.Ala432Val) rs531220961 0.00001
NM_000383.4(AIRE):c.1345T>C (p.Cys449Arg) rs957681340 0.00001
NM_000383.4(AIRE):c.1418G>A (p.Arg473Lys) rs750662701 0.00001
NM_000383.4(AIRE):c.1427C>T (p.Ser476Leu) rs754217318 0.00001
NM_000383.4(AIRE):c.1456G>C (p.Gly486Arg) rs749111202 0.00001
NM_000383.4(AIRE):c.1480C>T (p.Arg494Cys) rs1465595959 0.00001
NM_000383.4(AIRE):c.1493G>A (p.Gly498Glu) rs1189029187 0.00001
NM_000383.4(AIRE):c.1520A>T (p.His507Leu) rs373920616 0.00001
NM_000383.4(AIRE):c.1619C>T (p.Ala540Val) rs376731017 0.00001
NM_000383.4(AIRE):c.305A>G (p.Lys102Arg) rs777675955 0.00001
NM_000383.4(AIRE):c.353T>A (p.Val118Asp) rs772511282 0.00001
NM_000383.4(AIRE):c.424G>A (p.Ala142Thr) rs755258600 0.00001
NM_000383.4(AIRE):c.454G>A (p.Ala152Thr) rs771314896 0.00001
NM_000383.4(AIRE):c.51G>C (p.Glu17Asp) rs1036995518 0.00001
NM_000383.4(AIRE):c.538+3G>A rs557176517 0.00001
NM_000383.4(AIRE):c.590G>C (p.Gly197Ala) rs1185406745 0.00001
NM_000383.4(AIRE):c.653-9T>A rs941927668 0.00001
NM_000383.4(AIRE):c.67G>A (p.Asp23Asn) rs975525470 0.00001
NM_000383.4(AIRE):c.794C>T (p.Ala265Val) rs775896896 0.00001
NM_000383.4(AIRE):c.798+5G>A rs1490186498 0.00001
NM_000383.4(AIRE):c.841G>A (p.Ala281Thr) rs778148534 0.00001
NM_000383.4(AIRE):c.860G>A (p.Ser287Asn) rs375819189 0.00001
NM_000383.4(AIRE):c.892G>A (p.Glu298Lys) rs763636007 0.00001
NM_000383.4(AIRE):c.983G>A (p.Arg328Gln) rs775921321 0.00001
NM_000639.3(FASLG):c.113G>A (p.Arg38Lys) rs149563384 0.00001
NM_000639.3(FASLG):c.117G>T (p.Arg39Ser) rs373329523 0.00001
NM_000639.3(FASLG):c.119C>T (p.Pro40Leu) rs1256138927 0.00001
NM_000639.3(FASLG):c.170C>T (p.Pro57Leu) rs149883274 0.00001
NM_000639.3(FASLG):c.301A>G (p.Met101Val) rs747496936 0.00001
NM_000639.3(FASLG):c.319C>A (p.Leu107Ile) rs748768839 0.00001
NM_000639.3(FASLG):c.412C>T (p.Pro138Ser) rs756917304 0.00001
NM_000639.3(FASLG):c.474G>C (p.Met158Ile) rs888867585 0.00001
NM_000639.3(FASLG):c.503T>A (p.Ile168Asn) rs1291566237 0.00001
NM_000639.3(FASLG):c.692G>A (p.Ser231Asn) rs758377456 0.00001
NM_000639.3(FASLG):c.740C>A (p.Ala247Glu) rs80358237 0.00001
NM_000639.3(FASLG):c.781G>A (p.Val261Ile) rs201780506 0.00001
NM_001370466.1(NOD2):c.-8-2223G>T rs764563350 0.00001
NM_001370466.1(NOD2):c.-8-2223del rs1213629611 0.00001
NM_001370466.1(NOD2):c.1006A>T (p.Ile336Phe) rs104895470 0.00001
NM_001370466.1(NOD2):c.1070T>A (p.Phe357Tyr) rs777343284 0.00001
NM_001370466.1(NOD2):c.1177C>T (p.Arg393Cys) rs367883043 0.00001
NM_001370466.1(NOD2):c.1195C>T (p.Arg399Cys) rs545466982 0.00001
NM_001370466.1(NOD2):c.1222A>G (p.Arg408Gly) rs768389547 0.00001
NM_001370466.1(NOD2):c.1316C>T (p.Ala439Val) rs776802746 0.00001
NM_001370466.1(NOD2):c.1413A>C (p.Glu471Asp) rs1361409611 0.00001
NM_001370466.1(NOD2):c.1459T>C (p.Tyr487His) rs540122692 0.00001
NM_001370466.1(NOD2):c.1478A>G (p.His493Arg) rs757269951 0.00001
NM_001370466.1(NOD2):c.1492G>A (p.Ala498Thr) rs1283801598 0.00001
NM_001370466.1(NOD2):c.1609G>A (p.Val537Met) rs760678831 0.00001
NM_001370466.1(NOD2):c.1765G>A (p.Ala589Thr) rs747674172 0.00001
NM_001370466.1(NOD2):c.179G>A (p.Arg60His) rs983465914 0.00001
NM_001370466.1(NOD2):c.1802A>G (p.His601Arg) rs746653187 0.00001
NM_001370466.1(NOD2):c.185T>A (p.Leu62Gln) rs1286052486 0.00001
NM_001370466.1(NOD2):c.1879G>A (p.Gly627Arg) rs777290315 0.00001
NM_001370466.1(NOD2):c.188A>T (p.Asp63Val) rs747221457 0.00001
NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro) rs369957746 0.00001
NM_001370466.1(NOD2):c.1957G>A (p.Gly653Arg) rs371339573 0.00001
NM_001370466.1(NOD2):c.198G>A (p.Trp66Ter) rs761449474 0.00001
NM_001370466.1(NOD2):c.2029C>T (p.Gln677Ter) rs755721919 0.00001
NM_001370466.1(NOD2):c.2046G>A (p.Trp682Ter) rs776701942 0.00001
NM_001370466.1(NOD2):c.2150G>A (p.Arg717Gln) rs751849531 0.00001
NM_001370466.1(NOD2):c.2161G>A (p.Glu721Lys) rs757403209 0.00001
NM_001370466.1(NOD2):c.2176C>T (p.Arg726Trp) rs749720540 0.00001
NM_001370466.1(NOD2):c.2192C>T (p.Ala731Val) rs104895442 0.00001
NM_001370466.1(NOD2):c.2197C>T (p.Arg733Cys) rs3813758 0.00001
NM_001370466.1(NOD2):c.220C>G (p.Gln74Glu) rs753619374 0.00001
NM_001370466.1(NOD2):c.2297T>C (p.Val766Ala) rs1200152449 0.00001
NM_001370466.1(NOD2):c.22C>T (p.Gln8Ter) rs1567380372 0.00001
NM_001370466.1(NOD2):c.2338G>A (p.Val780Met) rs748522514 0.00001
NM_001370466.1(NOD2):c.2353C>T (p.Pro785Ser) rs746692864 0.00001
NM_001370466.1(NOD2):c.2387G>A (p.Arg796His) rs768930237 0.00001
NM_001370466.1(NOD2):c.2390A>G (p.Asp797Gly) rs778481419 0.00001
NM_001370466.1(NOD2):c.2413A>T (p.Ile805Phe) rs765335094 0.00001
NM_001370466.1(NOD2):c.2434G>T (p.Ala812Ser) rs757680896 0.00001
NM_001370466.1(NOD2):c.2443T>C (p.Cys815Arg) rs146313066 0.00001
NM_001370466.1(NOD2):c.2444G>A (p.Cys815Tyr) rs754471017 0.00001
NM_001370466.1(NOD2):c.2445C>T (p.Cys815=) rs778447050 0.00001
NM_001370466.1(NOD2):c.2534A>G (p.Asn845Ser) rs201806207 0.00001
NM_001370466.1(NOD2):c.2553G>A (p.Leu851=) rs1283225496 0.00001
NM_001370466.1(NOD2):c.2575G>A (p.Ala859Thr) rs376366287 0.00001
NM_001370466.1(NOD2):c.2576C>T (p.Ala859Val) rs565200911 0.00001
NM_001370466.1(NOD2):c.2596G>A (p.Glu866Lys) rs201884393 0.00001
NM_001370466.1(NOD2):c.2605C>T (p.Arg869Ter) rs769101191 0.00001
NM_001370466.1(NOD2):c.2618C>T (p.Ser873Phe) rs199552944 0.00001
NM_001370466.1(NOD2):c.2654G>C (p.Gly885Ala) rs779300567 0.00001
NM_001370466.1(NOD2):c.2719C>G (p.Leu907Val) rs771833402 0.00001
NM_001370466.1(NOD2):c.278A>G (p.His93Arg) rs959869589 0.00001
NM_001370466.1(NOD2):c.2816A>G (p.His939Arg) rs189453919 0.00001
NM_001370466.1(NOD2):c.2828A>G (p.Glu943Gly) rs371389581 0.00001
NM_001370466.1(NOD2):c.2885+6G>T rs546478048 0.00001
NM_001370466.1(NOD2):c.2903T>C (p.Ile968Thr) rs1306240431 0.00001
NM_001370466.1(NOD2):c.2929C>G (p.Leu977Val) rs772487940 0.00001
NM_001370466.1(NOD2):c.2935G>C (p.Ala979Pro) rs199883290 0.00001
NM_001370466.1(NOD2):c.2938C>T (p.Leu980Phe) rs761083670 0.00001
NM_001370466.1(NOD2):c.295C>G (p.His99Asp) rs781448444 0.00001
NM_001370466.1(NOD2):c.2971C>T (p.Leu991Phe) rs146435555 0.00001
NM_001370466.1(NOD2):c.3011T>A (p.Leu1004His) rs1451481984 0.00001
NM_001370466.1(NOD2):c.314G>A (p.Arg105Gln) rs781540619 0.00001
NM_001370466.1(NOD2):c.323A>G (p.Gln108Arg) rs770240116 0.00001
NM_001370466.1(NOD2):c.334C>T (p.Pro112Ser) rs749841667 0.00001
NM_001370466.1(NOD2):c.394C>T (p.Arg132Trp) rs562557464 0.00001
NM_001370466.1(NOD2):c.395G>A (p.Arg132Gln) rs150996156 0.00001
NM_001370466.1(NOD2):c.435G>C (p.Leu145Phe) rs1292846110 0.00001
NM_001370466.1(NOD2):c.449C>T (p.Pro150Leu) rs144368009 0.00001
NM_001370466.1(NOD2):c.461C>A (p.Ala154Glu) rs141414002 0.00001
NM_001370466.1(NOD2):c.50T>A (p.Leu17Gln) rs757914381 0.00001
NM_001370466.1(NOD2):c.565+1G>A rs766614906 0.00001
NM_001370466.1(NOD2):c.565+4G>A rs776802652 0.00001
NM_001370466.1(NOD2):c.658T>C (p.Cys220Arg) rs764675751 0.00001
NM_001370466.1(NOD2):c.659G>T (p.Cys220Phe) rs752210177 0.00001
NM_001370466.1(NOD2):c.841C>T (p.Leu281Phe) rs1267341301 0.00001
NM_001370466.1(NOD2):c.917G>A (p.Cys306Tyr) rs1307391583 0.00001
NM_001370466.1(NOD2):c.955C>T (p.Arg319Trp) rs753537879 0.00001
NM_001370466.1(NOD2):c.986C>T (p.Pro329Leu) rs201107567 0.00001
NM_001372051.1(CASP8):c.1001A>G (p.Tyr334Cys) rs772661314 0.00001
NM_001372051.1(CASP8):c.1132C>A (p.Gln378Lys) rs1164535571 0.00001
NM_001372051.1(CASP8):c.1307G>A (p.Gly436Asp) rs1235505270 0.00001
NM_001372051.1(CASP8):c.251A>G (p.Glu84Gly) rs1292450812 0.00001
NM_001372051.1(CASP8):c.260A>G (p.Glu87Gly) rs763043263 0.00001
NM_001372051.1(CASP8):c.286G>T (p.Ala96Ser) rs762297913 0.00001
NM_001372051.1(CASP8):c.289C>A (p.Gln97Lys) rs1489585227 0.00001
NM_001372051.1(CASP8):c.306-1911G>A rs796850798 0.00001
NM_001372051.1(CASP8):c.306-1993C>T rs773675844 0.00001
NM_001372051.1(CASP8):c.311T>C (p.Met104Thr) rs1387029323 0.00001
NM_001372051.1(CASP8):c.697C>T (p.Arg233Trp) rs760898260 0.00001
NM_001372051.1(CASP8):c.778A>G (p.Arg260Gly) rs1350639573 0.00001
NM_001372051.1(CASP8):c.802+4C>A rs746813867 0.00001
NM_001372051.1(CASP8):c.92C>T (p.Pro31Leu) rs748087575 0.00001
NM_005214.5(CTLA4):c.211G>T (p.Val71Leu) rs1347670398 0.00001
NM_005214.5(CTLA4):c.265T>C (p.Tyr89His) rs1403336336 0.00001
NM_005214.5(CTLA4):c.311C>T (p.Thr104Met) rs759232662 0.00001
NM_005214.5(CTLA4):c.352G>C (p.Gly118Arg) rs764089901 0.00001
NM_005214.5(CTLA4):c.371C>T (p.Thr124Met) rs757773669 0.00001
NM_005214.5(CTLA4):c.384C>G (p.Ile128Met) rs750841862 0.00001
NM_005214.5(CTLA4):c.467C>T (p.Pro156Leu) rs756706504 0.00001
NM_005214.5(CTLA4):c.515C>T (p.Ser172Leu) rs963824682 0.00001
NM_005214.5(CTLA4):c.553T>A (p.Ser185Thr) rs773775010 0.00001
NM_005214.5(CTLA4):c.619A>G (p.Thr207Ala) rs1278638729 0.00001
NM_005214.5(CTLA4):c.626C>G (p.Pro209Arg) rs778534474 0.00001
NM_005214.5(CTLA4):c.62C>G (p.Pro21Arg) rs1041117695 0.00001
NM_006254.4(PRKCD):c.1036A>G (p.Ile346Val) rs1434557148 0.00001
NM_006254.4(PRKCD):c.1051T>G (p.Phe351Val) rs782444193 0.00001
NM_006254.4(PRKCD):c.1123T>G (p.Phe375Val) rs1003630344 0.00001
NM_006254.4(PRKCD):c.1184T>C (p.Met395Thr) rs1010140622 0.00001
NM_006254.4(PRKCD):c.1231A>G (p.Thr411Ala) rs1553669078 0.00001
NM_006254.4(PRKCD):c.1376G>A (p.Cys459Tyr) rs1553669478 0.00001
NM_006254.4(PRKCD):c.140A>G (p.Lys47Arg) rs1553666756 0.00001
NM_006254.4(PRKCD):c.1448G>A (p.Arg483Gln) rs879255393 0.00001
NM_006254.4(PRKCD):c.1501G>T (p.Gly501Trp) rs782726901 0.00001
NM_006254.4(PRKCD):c.1672G>A (p.Glu558Lys) rs1575544853 0.00001
NM_006254.4(PRKCD):c.1726A>G (p.Lys576Glu) rs782371398 0.00001
NM_006254.4(PRKCD):c.1727A>G (p.Lys576Arg) rs782006621 0.00001
NM_006254.4(PRKCD):c.1744C>T (p.Leu582Phe) rs781964037 0.00001
NM_006254.4(PRKCD):c.1840C>T (p.Arg614Trp) rs606231297 0.00001
NM_006254.4(PRKCD):c.1844G>T (p.Arg615Met) rs74838104 0.00001
NM_006254.4(PRKCD):c.1942G>A (p.Asp648Asn) rs1305829710 0.00001
NM_006254.4(PRKCD):c.1957G>A (p.Asp653Asn) rs781914241 0.00001
NM_006254.4(PRKCD):c.195G>C (p.Glu65Asp) rs1196790794 0.00001
NM_006254.4(PRKCD):c.2002C>T (p.Pro668Ser) rs148364495 0.00001
NM_006254.4(PRKCD):c.202G>A (p.Val68Ile) rs781950537 0.00001
NM_006254.4(PRKCD):c.22G>A (p.Ala8Thr) rs368029897 0.00001
NM_006254.4(PRKCD):c.256G>A (p.Val86Met) rs782298081 0.00001
NM_006254.4(PRKCD):c.268G>A (p.Val90Met) rs1015113720 0.00001
NM_006254.4(PRKCD):c.297T>A (p.Asn99Lys) rs561142814 0.00001
NM_006254.4(PRKCD):c.377-10T>C rs782061483 0.00001
NM_006254.4(PRKCD):c.394C>T (p.Arg132Cys) rs375221270 0.00001
NM_006254.4(PRKCD):c.531C>G (p.Asp177Glu) rs1240610213 0.00001
NM_006254.4(PRKCD):c.549C>A (p.Asn183Lys) rs1378624159 0.00001
NM_006254.4(PRKCD):c.580G>A (p.Ala194Thr) rs782475090 0.00001
NM_006254.4(PRKCD):c.584C>T (p.Ala195Val) rs977894332 0.00001
NM_006254.4(PRKCD):c.5C>T (p.Ala2Val) rs781958692 0.00001
NM_006254.4(PRKCD):c.616G>A (p.Gly206Ser) rs957946153 0.00001
NM_006254.4(PRKCD):c.631A>T (p.Thr211Ser) rs1252661978 0.00001
NM_006254.4(PRKCD):c.635C>T (p.Ala212Val) rs782237403 0.00001
NM_006254.4(PRKCD):c.64G>A (p.Glu22Lys) rs1553666417 0.00001
NM_006254.4(PRKCD):c.652A>G (p.Thr218Ala) rs1311722771 0.00001
NM_006254.4(PRKCD):c.793G>A (p.Gly265Ser) rs373245386 0.00001
NM_006254.4(PRKCD):c.869C>T (p.Ala290Val) rs1186631774 0.00001
NM_006254.4(PRKCD):c.884C>T (p.Thr295Ile) rs782223934 0.00001
NM_006254.4(PRKCD):c.890G>A (p.Arg297Lys) rs782243565 0.00001
NM_006254.4(PRKCD):c.925C>G (p.Pro309Ala) rs1703647874 0.00001
NM_006254.4(PRKCD):c.928G>A (p.Val310Ile) rs773144753 0.00001
NM_006254.4(PRKCD):c.991A>G (p.Ser331Gly) rs140359417 0.00001
NM_007315.4(STAT1):c.1038-3C>T rs374148252 0.00001
NM_007315.4(STAT1):c.1097+3A>G rs1225283533 0.00001
NM_007315.4(STAT1):c.1097+6A>G rs1485704994 0.00001
NM_007315.4(STAT1):c.1117A>T (p.Thr373Ser) rs768434440 0.00001
NM_007315.4(STAT1):c.1222-3T>C rs886055379 0.00001
NM_007315.4(STAT1):c.1276G>A (p.Val426Ile) rs143182587 0.00001
NM_007315.4(STAT1):c.1336A>G (p.Ile446Val) rs1313271807 0.00001
NM_007315.4(STAT1):c.1348A>G (p.Thr450Ala) rs1364125268 0.00001
NM_007315.4(STAT1):c.1399G>A (p.Gly467Ser) rs762390015 0.00001
NM_007315.4(STAT1):c.1544A>G (p.Asn515Ser) rs190269533 0.00001
NM_007315.4(STAT1):c.1619C>T (p.Thr540Met) rs753414973 0.00001
NM_007315.4(STAT1):c.1744A>G (p.Ile582Val) rs774306421 0.00001
NM_007315.4(STAT1):c.1765G>T (p.Ala589Ser) rs745491762 0.00001
NM_007315.4(STAT1):c.2003A>T (p.Tyr668Phe) rs771679419 0.00001
NM_007315.4(STAT1):c.274-3T>C rs777002134 0.00001
NM_007315.4(STAT1):c.368A>G (p.Asn123Ser) rs778751233 0.00001
NM_007315.4(STAT1):c.380C>T (p.Ser127Leu) rs768483703 0.00001
NM_007315.4(STAT1):c.478A>C (p.Ile160Leu) rs371548986 0.00001
NM_007315.4(STAT1):c.541+4A>G rs763122792 0.00001
NM_007315.4(STAT1):c.554A>G (p.Asn185Ser) rs1051397529 0.00001
NM_007315.4(STAT1):c.743T>C (p.Ile248Thr) rs779371351 0.00001
NM_007315.4(STAT1):c.944+4A>G rs774979554 0.00001
NM_014009.4(FOXP3):c.1073G>A (p.Arg358Gln) rs1428528910 0.00001
NM_014009.4(FOXP3):c.130A>G (p.Thr44Ala) rs782474624 0.00001
NM_014009.4(FOXP3):c.247G>A (p.Gly83Arg) rs868911396 0.00001
NM_014009.4(FOXP3):c.508A>G (p.Thr170Ala) rs782694663 0.00001
NM_014009.4(FOXP3):c.597C>T (p.Cys199=) rs782377881 0.00001
NM_032977.4(CASP10):c.1060T>C (p.Cys354Arg) rs1233007817 0.00001
NM_032977.4(CASP10):c.1100C>T (p.Ser367Leu) rs774726645 0.00001
NM_032977.4(CASP10):c.1159C>G (p.Pro387Ala) rs759782468 0.00001
NM_032977.4(CASP10):c.1197G>T (p.Gln399His) rs199626441 0.00001
NM_032977.4(CASP10):c.1283A>G (p.Asp428Gly) rs775030613 0.00001
NM_032977.4(CASP10):c.1288A>T (p.Ile430Phe) rs762718326 0.00001
NM_032977.4(CASP10):c.1348C>T (p.Arg450Trp) rs758842495 0.00001
NM_032977.4(CASP10):c.1415+2T>C rs574742344 0.00001
NM_032977.4(CASP10):c.142C>T (p.Pro48Ser) rs200012872 0.00001
NM_032977.4(CASP10):c.1453G>A (p.Asp485Asn) rs758187673 0.00001
NM_032977.4(CASP10):c.146A>G (p.Asn49Ser) rs559658034 0.00001
NM_032977.4(CASP10):c.1558C>T (p.Leu520Phe) rs571838418 0.00001
NM_032977.4(CASP10):c.1567T>C (p.Ter523Gln) rs1465277007 0.00001
NM_032977.4(CASP10):c.208C>G (p.Leu70Val) rs1944402071 0.00001
NM_032977.4(CASP10):c.226C>A (p.Pro76Thr) rs146696981 0.00001
NM_032977.4(CASP10):c.258A>G (p.Ile86Met) rs1324259879 0.00001
NM_032977.4(CASP10):c.311G>A (p.Arg104Gln) rs748398291 0.00001
NM_032977.4(CASP10):c.332G>C (p.Arg111Thr) rs199600895 0.00001
NM_032977.4(CASP10):c.335T>C (p.Val112Ala) rs770155279 0.00001
NM_032977.4(CASP10):c.396G>C (p.Lys132Asn) rs1944465097 0.00001
NM_032977.4(CASP10):c.422C>T (p.Ser141Leu) rs780552445 0.00001
NM_032977.4(CASP10):c.478G>A (p.Gly160Ser) rs781000749 0.00001
NM_032977.4(CASP10):c.491A>C (p.Glu164Ala) rs1165543405 0.00001
NM_032977.4(CASP10):c.49A>G (p.Lys17Glu) rs552561721 0.00001
NM_032977.4(CASP10):c.502A>G (p.Thr168Ala) rs371962581 0.00001
NM_032977.4(CASP10):c.516C>G (p.Asp172Glu) rs1465733324 0.00001
NM_032977.4(CASP10):c.530T>G (p.Val177Gly) rs767659964 0.00001
NM_032977.4(CASP10):c.598C>T (p.Pro200Ser) rs752039240 0.00001
NM_032977.4(CASP10):c.616G>A (p.Glu206Lys) rs972443043 0.00001
NM_032977.4(CASP10):c.664A>G (p.Thr222Ala) rs763551197 0.00001
NM_032977.4(CASP10):c.721+1G>A rs1476766456 0.00001
NM_032977.4(CASP10):c.733A>C (p.Thr245Pro) rs1312829146 0.00001
NM_032977.4(CASP10):c.763G>A (p.Gly255Arg) rs746191869 0.00001
NM_032977.4(CASP10):c.775G>A (p.Ala259Thr) rs1200629345 0.00001
NM_032977.4(CASP10):c.776C>T (p.Ala259Val) rs747722985 0.00001
NM_032977.4(CASP10):c.783_784del (p.Asn262fs) rs1451261167 0.00001
NM_032977.4(CASP10):c.786C>G (p.Asn262Lys) rs368675766 0.00001
NM_032977.4(CASP10):c.802A>C (p.Thr268Pro) rs770921459 0.00001
NM_032977.4(CASP10):c.817G>A (p.Ala273Thr) rs1335254762 0.00001
NM_032977.4(CASP10):c.838C>T (p.Arg280Trp) rs1351292534 0.00001
NM_032977.4(CASP10):c.887C>T (p.Ser296Phe) rs146654699 0.00001
NM_032977.4(CASP10):c.910C>T (p.His304Tyr) rs748988477 0.00001
NM_032977.4(CASP10):c.94G>A (p.Gly32Arg) rs375838979 0.00001
NM_032977.4(CASP10):c.983C>T (p.Thr328Met) rs200424779 0.00001
NM_032977.4(CASP10):c.997G>A (p.Glu333Lys) rs972778129 0.00001
NM_033629.6(TREX1):c.112G>T (p.Ala38Ser) rs765715997 0.00001
NM_033629.6(TREX1):c.212T>C (p.Val71Ala) rs145208844 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_033629.6(TREX1):c.226G>T (p.Ala76Ser) rs986003279 0.00001
NM_033629.6(TREX1):c.23C>T (p.Pro8Leu) rs561454996 0.00001
NM_033629.6(TREX1):c.251T>C (p.Ile84Thr) rs748535974 0.00001
NM_033629.6(TREX1):c.268G>A (p.Ala90Thr) rs1158056849 0.00001
NM_033629.6(TREX1):c.277G>C (p.Ala93Pro) rs2040338083 0.00001
NM_033629.6(TREX1):c.281C>T (p.Ala94Val) rs774538797 0.00001
NM_033629.6(TREX1):c.284A>G (p.His95Arg) rs368972486 0.00001
NM_033629.6(TREX1):c.289C>A (p.Arg97Ser) rs763817243 0.00001
NM_033629.6(TREX1):c.299T>C (p.Phe100Ser) rs757909936 0.00001
NM_033629.6(TREX1):c.29C>A (p.Pro10His) rs1460993756 0.00001
NM_033629.6(TREX1):c.308A>T (p.Asn103Ile) rs770158462 0.00001
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030 0.00001
NM_033629.6(TREX1):c.347C>T (p.Pro116Leu) rs765151974 0.00001
NM_033629.6(TREX1):c.382C>T (p.Arg128Cys) rs199614534 0.00001
NM_033629.6(TREX1):c.394C>A (p.Pro132Thr) rs200510205 0.00001
NM_033629.6(TREX1):c.418A>G (p.Met140Val) rs761526437 0.00001
NM_033629.6(TREX1):c.427C>G (p.Leu143Val) rs576033124 0.00001
NM_033629.6(TREX1):c.500G>A (p.Ser167Asn) rs200309956 0.00001
NM_033629.6(TREX1):c.520A>G (p.Arg174Gly) rs759481016 0.00001
NM_033629.6(TREX1):c.530A>G (p.Tyr177Cys) rs1479030388 0.00001
NM_033629.6(TREX1):c.586A>G (p.Thr196Ala) rs1176739791 0.00001
NM_033629.6(TREX1):c.587C>T (p.Thr196Met) rs754998766 0.00001
NM_033629.6(TREX1):c.590C>T (p.Ala197Val) rs201954133 0.00001
NM_033629.6(TREX1):c.5G>T (p.Gly2Val) rs199519507 0.00001
NM_033629.6(TREX1):c.605T>G (p.Leu202Arg) rs769993269 0.00001
NM_033629.6(TREX1):c.61G>A (p.Ala21Thr) rs1356174769 0.00001
NM_033629.6(TREX1):c.647T>C (p.Leu216Pro) rs142082672 0.00001
NM_033629.6(TREX1):c.695T>G (p.Met232Arg) rs373284647 0.00001
NM_033629.6(TREX1):c.740C>T (p.Ala247Val) rs201503409 0.00001
NM_033629.6(TREX1):c.767del (p.Thr256fs) rs1302856977 0.00001
NM_033629.6(TREX1):c.782G>A (p.Ser261Asn) rs1225568750 0.00001
NM_033629.6(TREX1):c.784C>T (p.Pro262Ser) rs867148059 0.00001
NM_033629.6(TREX1):c.80C>T (p.Ser27Phe) rs11548268 0.00001
NM_033629.6(TREX1):c.833A>T (p.Asp278Val) rs2040383072 0.00001
NM_033629.6(TREX1):c.85C>T (p.Pro29Ser) rs1407557314 0.00001
NM_033629.6(TREX1):c.877C>G (p.Leu293Val) rs759839987 0.00001
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) rs76224909 0.00001
NM_033629.6(TREX1):c.935C>G (p.Pro312Arg) rs772805032 0.00001
NM_033629.6(TREX1):c.95C>T (p.Thr32Met) rs755138065 0.00001
NC_000001.10:g.(?_171605065)_(173962123_?)dup
NC_000001.11:g.(?_172658358)_(172666036_?)dup
NC_000001.11:g.(?_172658358)_(172909884_?)dup
NC_000002.11:g.(?_189839216)_(192012929_?)dup
NC_000002.11:g.(?_191843562)_(191845415_?)del
NC_000002.11:g.(?_201943606)_(204824322_?)dup
NC_000002.11:g.(?_202050501)_(202052542_?)dup
NC_000002.11:g.(?_202050501)_(202057862_?)del
NC_000002.11:g.(?_202050501)_(202082464_?)dup
NC_000002.11:g.(?_202052409)_(202052542_?)del
NC_000002.11:g.(?_202060545)_(202060691_?)del
NC_000002.11:g.(?_202068433)_(202068509_?)del
NC_000002.11:g.(?_202070585)_(202070716_?)del
NC_000002.11:g.(?_202071408)_(202074178_?)del
NC_000002.11:g.(?_202131210)_(202137519_?)dup
NC_000002.11:g.(?_204732666)_(204737535_?)dup
NC_000002.12:g.(?_190970683)_(190970737_?)dup
NC_000002.12:g.(?_201185758)_(201229103_?)dup
NC_000002.12:g.(?_201192964)_(201193139_?)dup
NC_000002.12:g.(?_201203710)_(201209582_?)del
NC_000002.12:g.203870586_203870594del rs1559591640
NC_000003.11:g.(?_53125899)_(53215768_?)dup
NC_000010.10:g.(?_90332640)_(91222335_?)dup
NC_000016.9:g.(?_50731155)_(51631253_?)dup
NC_000021.8:g.(?_45629566)_(45711113_?)dup
NC_000021.8:g.(?_45629566)_(46330717_?)dup
NC_000021.8:g.(?_45709520)_(45759077_?)dup
NC_000021.8:g.(?_45713652)_(45717630_?)dup
NC_000021.8:g.(?_45717519)_(45717610_?)dup
NC_000021.9:g.(?_44297636)_(44297747_?)dup
NC_000023.10:g.(?_48932462)_(49840657_?)dup
NM_000043.6(FAS):c.1002G>T (p.Leu334Phe) rs1848690736
NM_000043.6(FAS):c.1008G>C (p.Ter336Tyr)
NM_000043.6(FAS):c.103T>A (p.Leu35Met)
NM_000043.6(FAS):c.104T>G (p.Leu35Trp) rs2133471258
NM_000043.6(FAS):c.136A>C (p.Thr46Pro)
NM_000043.6(FAS):c.155_169dup (p.Gly56_Gln57insLeuHisHisAspGly)
NM_000043.6(FAS):c.15G>C (p.Trp5Cys)
NM_000043.6(FAS):c.161A>G (p.His54Arg) rs759152311
NM_000043.6(FAS):c.175T>A (p.Cys59Ser)
NM_000043.6(FAS):c.179A>G (p.His60Arg) rs753767914
NM_000043.6(FAS):c.185C>G (p.Pro62Arg) rs757780022
NM_000043.6(FAS):c.187T>C (p.Cys63Arg)
NM_000043.6(FAS):c.195A>G (p.Pro65=)
NM_000043.6(FAS):c.196+2dup
NM_000043.6(FAS):c.196+5G>T
NM_000043.6(FAS):c.204G>T (p.Arg68Ser)
NM_000043.6(FAS):c.218G>C (p.Cys73Ser) rs2133502355
NM_000043.6(FAS):c.226A>C (p.Asn76His)
NM_000043.6(FAS):c.230G>A (p.Gly77Glu)
NM_000043.6(FAS):c.259G>A (p.Glu87Lys) rs2133503091
NM_000043.6(FAS):c.279C>A (p.Asp93Glu)
NM_000043.6(FAS):c.287A>G (p.His96Arg) rs1589475804
NM_000043.6(FAS):c.31-8T>G rs1589464585
NM_000043.6(FAS):c.310T>C (p.Cys104Arg)
NM_000043.6(FAS):c.32T>C (p.Val11Ala)
NM_000043.6(FAS):c.333T>C (p.His111=)
NM_000043.6(FAS):c.335-4C>G
NM_000043.6(FAS):c.340G>A (p.Glu114Lys)
NM_000043.6(FAS):c.383G>A (p.Arg128Lys) rs2133514262
NM_000043.6(FAS):c.386G>A (p.Cys129Tyr)
NM_000043.6(FAS):c.38C>A (p.Thr13Lys)
NM_000043.6(FAS):c.391C>A (p.Pro131Thr)
NM_000043.6(FAS):c.397T>C (p.Phe133Leu)
NM_000043.6(FAS):c.398T>A (p.Phe133Tyr)
NM_000043.6(FAS):c.404G>T (p.Cys135Phe) rs1404280764
NM_000043.6(FAS):c.415G>A (p.Val139Ile)
NM_000043.6(FAS):c.418T>G (p.Cys140Gly)
NM_000043.6(FAS):c.430G>T (p.Asp144Tyr)
NM_000043.6(FAS):c.473C>T (p.Thr158Ile)
NM_000043.6(FAS):c.478A>G (p.Thr160Ala) rs1589482084
NM_000043.6(FAS):c.485A>T (p.Asn162Ile) rs993150748
NM_000043.6(FAS):c.490A>G (p.Lys164Glu)
NM_000043.6(FAS):c.494G>A (p.Cys165Tyr)
NM_000043.6(FAS):c.506-11C>T
NM_000043.6(FAS):c.506-6C>G rs1589482683
NM_000043.6(FAS):c.506G>T (p.Gly169Val) rs1848488731
NM_000043.6(FAS):c.529C>T (p.Leu177Phe)
NM_000043.6(FAS):c.530T>G (p.Leu177Arg) rs1848490280
NM_000043.6(FAS):c.554C>T (p.Pro185Leu)
NM_000043.6(FAS):c.55T>C (p.Ser19Pro)
NM_000043.6(FAS):c.565_566insACAAGA (p.Trp189delinsTyrLysArg) rs2133530271
NM_000043.6(FAS):c.566_568delinsACAAGAATT (p.Trp189_Val190delinsTyrLysAsnLeu) rs1564695523
NM_000043.6(FAS):c.568+5G>C
NM_000043.6(FAS):c.56C>T (p.Ser19Leu)
NM_000043.6(FAS):c.575G>A (p.Arg192Lys)
NM_000043.6(FAS):c.634T>A (p.Ser212Thr) rs1848559695
NM_000043.6(FAS):c.635C>T (p.Ser212Phe)
NM_000043.6(FAS):c.641_642delinsAC (p.Thr214Asn) rs1848560803
NM_000043.6(FAS):c.641_642delinsTC (p.Thr214Ile) rs1848560803
NM_000043.6(FAS):c.652G>A (p.Glu218Lys)
NM_000043.6(FAS):c.658G>A (p.Val220Met) rs755437276
NM_000043.6(FAS):c.673T>A (p.Ser225Thr) rs891207457
NM_000043.6(FAS):c.676+3A>G rs1848626772
NM_000043.6(FAS):c.67G>A (p.Val23Ile)
NM_000043.6(FAS):c.680T>C (p.Val227Ala)
NM_000043.6(FAS):c.695A>G (p.Tyr232Cys) rs121913079
NM_000043.6(FAS):c.704C>T (p.Thr235Ile) rs2119445212
NM_000043.6(FAS):c.704_706del (p.Thr235del) rs1848666809
NM_000043.6(FAS):c.715G>T (p.Val239Phe)
NM_000043.6(FAS):c.719T>A (p.Met240Lys) rs2119445378
NM_000043.6(FAS):c.719T>G (p.Met240Arg)
NM_000043.6(FAS):c.734T>G (p.Val245Gly) rs200778245
NM_000043.6(FAS):c.746T>C (p.Val249Ala)
NM_000043.6(FAS):c.760G>T (p.Val254Phe) rs2119445796
NM_000043.6(FAS):c.761T>C (p.Val254Ala) rs1848671288
NM_000043.6(FAS):c.767A>G (p.Glu256Gly) rs2119445897
NM_000043.6(FAS):c.772A>G (p.Lys258Glu)
NM_000043.6(FAS):c.77A>G (p.Gln26Arg) rs2133470846
NM_000043.6(FAS):c.781G>A (p.Glu261Lys)
NM_000043.6(FAS):c.792T>G (p.Asn264Lys) rs2119446116
NM_000043.6(FAS):c.796A>C (p.Asn266His)
NM_000043.6(FAS):c.809C>T (p.Thr270Ile) rs121913081
NM_000043.6(FAS):c.817C>A (p.Gln273Lys) rs121913077
NM_000043.6(FAS):c.818A>G (p.Gln273Arg) rs1848677745
NM_000043.6(FAS):c.820A>G (p.Lys274Glu)
NM_000043.6(FAS):c.823G>A (p.Val275Ile)
NM_000043.6(FAS):c.828A>C (p.Gln276His)
NM_000043.6(FAS):c.836G>A (p.Arg279His)
NM_000043.6(FAS):c.841T>A (p.Trp281Arg)
NM_000043.6(FAS):c.841T>G (p.Trp281Gly)
NM_000043.6(FAS):c.857G>A (p.Gly286Glu)
NM_000043.6(FAS):c.862A>G (p.Lys288Glu)
NM_000043.6(FAS):c.866A>G (p.Glu289Gly)
NM_000043.6(FAS):c.869C>A (p.Ala290Glu) rs760993872
NM_000043.6(FAS):c.869C>T (p.Ala290Val)
NM_000043.6(FAS):c.874G>C (p.Asp292His)
NM_000043.6(FAS):c.878C>T (p.Thr293Ile) rs2119447206
NM_000043.6(FAS):c.900A>C (p.Lys300Asn)
NM_000043.6(FAS):c.901G>A (p.Ala301Thr) rs1449711911
NM_000043.6(FAS):c.905A>G (p.Asn302Ser)
NM_000043.6(FAS):c.908T>G (p.Leu303Arg)
NM_000043.6(FAS):c.910T>C (p.Cys304Arg)
NM_000043.6(FAS):c.913A>G (p.Thr305Ala)
NM_000043.6(FAS):c.929T>G (p.Ile310Ser) rs2119448150
NM_000043.6(FAS):c.953T>C (p.Ile318Thr) rs1848687177
NM_000043.6(FAS):c.963C>G (p.Asp321Glu)
NM_000043.6(FAS):c.976A>G (p.Asn326Asp) rs770595930
NM_000043.6(FAS):c.976A>T (p.Asn326Tyr)
NM_000043.6(FAS):c.97A>C (p.Lys33Gln) rs55766344
NM_000383.4(AIRE):c.1001C>A (p.Thr334Asn)
NM_000383.4(AIRE):c.1010G>T (p.Cys337Phe)
NM_000383.4(AIRE):c.1012T>C (p.Ser338Pro)
NM_000383.4(AIRE):c.1017C>G (p.Ser339Arg)
NM_000383.4(AIRE):c.102C>A (p.Asp34Glu)
NM_000383.4(AIRE):c.1049C>G (p.Pro350Arg) rs1013117342
NM_000383.4(AIRE):c.1051C>G (p.Arg351Gly) rs149078622
NM_000383.4(AIRE):c.1051C>T (p.Arg351Trp)
NM_000383.4(AIRE):c.1052G>A (p.Arg351Gln)
NM_000383.4(AIRE):c.1054_1068dup (p.Ala352_Arg356dup) rs1481102287
NM_000383.4(AIRE):c.1064C>T (p.Pro355Leu)
NM_000383.4(AIRE):c.1065_1079del (p.Arg356_Pro360del) rs1555872876
NM_000383.4(AIRE):c.1084G>A (p.Val362Met) rs763954225
NM_000383.4(AIRE):c.1084G>T (p.Val362Leu) rs763954225
NM_000383.4(AIRE):c.1089G>T (p.Glu363Asp)
NM_000383.4(AIRE):c.108C>G (p.Asp36Glu)
NM_000383.4(AIRE):c.1091C>A (p.Thr364Asn) rs757362732
NM_000383.4(AIRE):c.1091C>G (p.Thr364Ser)
NM_000383.4(AIRE):c.1091C>T (p.Thr364Ile) rs757362732
NM_000383.4(AIRE):c.1094_1095delinsTC (p.Pro365Leu)
NM_000383.4(AIRE):c.1095+4T>G
NM_000383.4(AIRE):c.1095G>A (p.Pro365=) rs750688330
NM_000383.4(AIRE):c.1100C>T (p.Pro367Leu)
NM_000383.4(AIRE):c.1102C>G (p.Pro368Ala) rs768381413
NM_000383.4(AIRE):c.1121G>T (p.Gly374Val)
NM_000383.4(AIRE):c.1124A>G (p.Glu375Gly)
NM_000383.4(AIRE):c.1128G>C (p.Glu376Asp)
NM_000383.4(AIRE):c.1136G>A (p.Gly379Asp)
NM_000383.4(AIRE):c.1151C>T (p.Pro384Leu) rs1469479088
NM_000383.4(AIRE):c.1159G>A (p.Gly387Ser)
NM_000383.4(AIRE):c.1175T>C (p.Leu392Pro)
NM_000383.4(AIRE):c.1181A>G (p.Tyr394Cys) rs763440543
NM_000383.4(AIRE):c.1195G>T (p.Ala399Ser)
NM_000383.4(AIRE):c.1196_1197delinsAC (p.Ala399Asp) rs2040560125
NM_000383.4(AIRE):c.11A>T (p.Asp4Val) rs2146375006
NM_000383.4(AIRE):c.1202C>G (p.Pro401Arg)
NM_000383.4(AIRE):c.1214C>A (p.Pro405Gln)
NM_000383.4(AIRE):c.121G>A (p.Asp41Asn)
NM_000383.4(AIRE):c.1220C>G (p.Pro407Arg) rs2146383548
NM_000383.4(AIRE):c.122A>G (p.Asp41Gly)
NM_000383.4(AIRE):c.1249C>A (p.Leu417Ile) rs1248107084
NM_000383.4(AIRE):c.1256G>A (p.Cys419Tyr) rs756933733
NM_000383.4(AIRE):c.1256G>T (p.Cys419Phe) rs756933733
NM_000383.4(AIRE):c.1271G>T (p.Gly424Val)
NM_000383.4(AIRE):c.1278+5dup rs2146383693
NM_000383.4(AIRE):c.1285G>T (p.Ala429Ser)
NM_000383.4(AIRE):c.1298G>A (p.Arg433His)
NM_000383.4(AIRE):c.1302C>G (p.Cys434Trp)
NM_000383.4(AIRE):c.1310G>A (p.Cys437Tyr)
NM_000383.4(AIRE):c.1317T>G (p.Asp439Glu)
NM_000383.4(AIRE):c.1321A>G (p.Thr441Ala) rs768250058
NM_000383.4(AIRE):c.1327G>C (p.Val443Leu)
NM_000383.4(AIRE):c.1344C>G (p.His448Gln) rs201131119
NM_000383.4(AIRE):c.1351G>A (p.Ala451Thr)
NM_000383.4(AIRE):c.1354G>A (p.Ala452Thr) rs1480139411
NM_000383.4(AIRE):c.1366C>T (p.Arg456Cys)
NM_000383.4(AIRE):c.1373A>G (p.His458Arg) rs1601969955
NM_000383.4(AIRE):c.1384G>A (p.Gly462Ser)
NM_000383.4(AIRE):c.1384G>C (p.Gly462Arg)
NM_000383.4(AIRE):c.1387A>T (p.Thr463Ser)
NM_000383.4(AIRE):c.1393C>T (p.Arg465Trp)
NM_000383.4(AIRE):c.1394G>C (p.Arg465Pro)
NM_000383.4(AIRE):c.1396C>T (p.Pro466Ser) rs1411629170
NM_000383.4(AIRE):c.1399G>A (p.Gly467Arg) rs202018301
NM_000383.4(AIRE):c.1399G>C (p.Gly467Arg) rs202018301
NM_000383.4(AIRE):c.13G>A (p.Ala5Thr)
NM_000383.4(AIRE):c.13_14delinsTT (p.Ala5Leu) rs2146375021
NM_000383.4(AIRE):c.1400+6T>A
NM_000383.4(AIRE):c.1400G>C (p.Gly467Ala)
NM_000383.4(AIRE):c.1401-10T>G
NM_000383.4(AIRE):c.1401-5T>G
NM_000383.4(AIRE):c.1401G>T (p.Gly467=)
NM_000383.4(AIRE):c.1409T>C (p.Leu470Pro)
NM_000383.4(AIRE):c.1412G>A (p.Arg471His)
NM_000383.4(AIRE):c.1415G>A (p.Cys472Tyr)
NM_000383.4(AIRE):c.1418G>C (p.Arg473Thr) rs750662701
NM_000383.4(AIRE):c.1435G>A (p.Val479Met)
NM_000383.4(AIRE):c.1438A>G (p.Thr480Ala)
NM_000383.4(AIRE):c.143_145del (p.His48del) rs1601964364
NM_000383.4(AIRE):c.1447C>A (p.Pro483Thr) rs780816581
NM_000383.4(AIRE):c.1447C>G (p.Pro483Ala)
NM_000383.4(AIRE):c.1448C>G (p.Pro483Arg) rs2146385840
NM_000383.4(AIRE):c.1451T>C (p.Val484Ala)
NM_000383.4(AIRE):c.1460T>C (p.Val487Ala)
NM_000383.4(AIRE):c.1466C>T (p.Ala489Val) rs2146385893
NM_000383.4(AIRE):c.1468C>T (p.Pro490Ser)
NM_000383.4(AIRE):c.1470_1490del (p.Ser491_Pro497del)
NM_000383.4(AIRE):c.1474C>G (p.Pro492Ala)
NM_000383.4(AIRE):c.1478C>G (p.Ala493Gly)
NM_000383.4(AIRE):c.1481G>T (p.Arg494Leu) rs528762050
NM_000383.4(AIRE):c.149A>G (p.Lys50Arg)
NM_000383.4(AIRE):c.1505A>T (p.Asp502Val) rs1444691231
NM_000383.4(AIRE):c.1517G>T (p.Ser506Ile)
NM_000383.4(AIRE):c.1525C>T (p.Pro509Ser) rs999281375
NM_000383.4(AIRE):c.1528G>A (p.Ala510Thr)
NM_000383.4(AIRE):c.1528G>C (p.Ala510Pro)
NM_000383.4(AIRE):c.1553C>T (p.Ser518Phe)
NM_000383.4(AIRE):c.1555C>T (p.Leu519Phe)
NM_000383.4(AIRE):c.1563C>A (p.Ser521Arg) rs746873146
NM_000383.4(AIRE):c.1564G>A (p.Glu522Lys)
NM_000383.4(AIRE):c.1566+15G>A rs2040609241
NM_000383.4(AIRE):c.1566+5C>T
NM_000383.4(AIRE):c.1566+6G>A
NM_000383.4(AIRE):c.1567-1G>A rs1601973101
NM_000383.4(AIRE):c.1578_1579inv (p.Gly527Ser)
NM_000383.4(AIRE):c.1595C>T (p.Ala532Val)
NM_000383.4(AIRE):c.1605C>A (p.Ser535Arg) rs2146389859
NM_000383.4(AIRE):c.1608G>T (p.Met536Ile)
NM_000383.4(AIRE):c.1609G>C (p.Ala537Pro)
NM_000383.4(AIRE):c.1613G>A (p.Arg538His)
NM_000383.4(AIRE):c.1615C>A (p.Pro539Thr)
NM_000383.4(AIRE):c.1630C>A (p.Pro544Thr)
NM_000383.4(AIRE):c.167C>T (p.Pro56Leu) rs2040484477
NM_000383.4(AIRE):c.181G>A (p.Ala61Thr)
NM_000383.4(AIRE):c.187C>A (p.Leu63Met)
NM_000383.4(AIRE):c.202A>G (p.Thr68Ala)
NM_000383.4(AIRE):c.236G>C (p.Arg79Thr)
NM_000383.4(AIRE):c.238G>A (p.Val80Met)
NM_000383.4(AIRE):c.266G>T (p.Arg89Leu)
NM_000383.4(AIRE):c.283C>T (p.Pro95Ser)
NM_000383.4(AIRE):c.286A>C (p.Ile96Leu) rs2146375950
NM_000383.4(AIRE):c.308-18C>T
NM_000383.4(AIRE):c.308-3C>T
NM_000383.4(AIRE):c.308-6C>T
NM_000383.4(AIRE):c.310G>A (p.Val104Met)
NM_000383.4(AIRE):c.325C>G (p.Pro109Ala)
NM_000383.4(AIRE):c.326C>T (p.Pro109Leu)
NM_000383.4(AIRE):c.329G>A (p.Arg110Gln)
NM_000383.4(AIRE):c.332A>C (p.Lys111Thr)
NM_000383.4(AIRE):c.355C>A (p.Pro119Thr)
NM_000383.4(AIRE):c.416G>C (p.Arg139Pro) rs201965760
NM_000383.4(AIRE):c.41A>C (p.His14Pro)
NM_000383.4(AIRE):c.425C>T (p.Ala142Val)
NM_000383.4(AIRE):c.440C>T (p.Thr147Ile)
NM_000383.4(AIRE):c.443C>T (p.Pro148Leu)
NM_000383.4(AIRE):c.461C>T (p.Pro154Leu)
NM_000383.4(AIRE):c.463+5C>A
NM_000383.4(AIRE):c.463+5C>T rs569224551
NM_000383.4(AIRE):c.463+6C>G rs2146376456
NM_000383.4(AIRE):c.467C>T (p.Ser156Phe)
NM_000383.4(AIRE):c.46_63dup (p.Thr16_Ala21dup) rs2040477781
NM_000383.4(AIRE):c.473T>C (p.Leu158Pro) rs2040495001
NM_000383.4(AIRE):c.476A>G (p.Lys159Arg)
NM_000383.4(AIRE):c.478G>A (p.Ala160Thr) rs1568926733
NM_000383.4(AIRE):c.481_486del (p.Lys161_Pro162del)
NM_000383.4(AIRE):c.488C>T (p.Pro163Leu)
NM_000383.4(AIRE):c.491A>G (p.Lys164Arg)
NM_000383.4(AIRE):c.494A>G (p.Lys165Arg)
NM_000383.4(AIRE):c.507C>G (p.Ser169Arg)
NM_000383.4(AIRE):c.508G>A (p.Ala170Thr)
NM_000383.4(AIRE):c.520C>G (p.Arg174Gly) rs752687905
NM_000383.4(AIRE):c.524T>C (p.Leu175Pro) rs972262344
NM_000383.4(AIRE):c.527C>T (p.Pro176Leu) rs375658223
NM_000383.4(AIRE):c.537C>T (p.Asn179=)
NM_000383.4(AIRE):c.539_540delinsAT (p.Gly180Asp) rs2146377706
NM_000383.4(AIRE):c.545A>C (p.Gln182Pro) rs2040502920
NM_000383.4(AIRE):c.550A>G (p.Met184Val) rs2146377723
NM_000383.4(AIRE):c.551T>C (p.Met184Thr)
NM_000383.4(AIRE):c.580A>G (p.Met194Val)
NM_000383.4(AIRE):c.581T>C (p.Met194Thr) rs1351412367
NM_000383.4(AIRE):c.616G>A (p.Val206Met)
NM_000383.4(AIRE):c.619G>A (p.Glu207Lys)
NM_000383.4(AIRE):c.637C>G (p.Gln213Glu) rs1029475010
NM_000383.4(AIRE):c.652+6C>T
NM_000383.4(AIRE):c.680_681delinsAT (p.Gly227Asp) rs2146379169
NM_000383.4(AIRE):c.68A>G (p.Asp23Gly) rs2040478254
NM_000383.4(AIRE):c.712G>C (p.Asp238His)
NM_000383.4(AIRE):c.713A>C (p.Asp238Ala)
NM_000383.4(AIRE):c.716C>A (p.Ser239Tyr) rs2146379236
NM_000383.4(AIRE):c.722G>T (p.Ser241Ile)
NM_000383.4(AIRE):c.727A>G (p.Lys243Glu) rs2040517102
NM_000383.4(AIRE):c.733A>G (p.Lys245Glu)
NM_000383.4(AIRE):c.734A>G (p.Lys245Arg)
NM_000383.4(AIRE):c.739C>T (p.Arg247Cys)
NM_000383.4(AIRE):c.742A>G (p.Ser248Gly)
NM_000383.4(AIRE):c.766G>A (p.Val256Ile) rs753558091
NM_000383.4(AIRE):c.785A>G (p.Gln262Arg) rs2040517979
NM_000383.4(AIRE):c.816G>T (p.Arg272Ser) rs1568927979
NM_000383.4(AIRE):c.827A>G (p.Gln276Arg)
NM_000383.4(AIRE):c.831C>T (p.Gly277=) rs1180944731
NM_000383.4(AIRE):c.850G>A (p.Ala284Thr) rs1311252316
NM_000383.4(AIRE):c.851C>G (p.Ala284Gly)
NM_000383.4(AIRE):c.865C>A (p.Pro289Thr)
NM_000383.4(AIRE):c.889G>A (p.Asp297Asn) rs2040534355
NM_000383.4(AIRE):c.899C>A (p.Ala300Asp) rs868756561
NM_000383.4(AIRE):c.899C>T (p.Ala300Val) rs868756561
NM_000383.4(AIRE):c.901G>C (p.Val301Leu)
NM_000383.4(AIRE):c.907C>T (p.Arg303Trp)
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg) rs754932526
NM_000383.4(AIRE):c.925A>G (p.Ile309Val) rs936714310
NM_000383.4(AIRE):c.946C>G (p.Arg316Gly)
NM_000383.4(AIRE):c.946C>T (p.Arg316Trp)
NM_000383.4(AIRE):c.985G>A (p.Glu329Lys)
NM_000383.4(AIRE):c.996-14G>A
NM_000383.4(AIRE):c.999G>T (p.Gly333=) rs1445602810
NM_000639.3(FASLG):c.135ACC[2] (p.Pro52_Pro53del)
NM_000639.3(FASLG):c.135ACC[3] (p.Pro53del) rs750792722
NM_000639.3(FASLG):c.144_152del (p.Pro51_Pro53del) rs777390517
NM_000639.3(FASLG):c.146C>T (p.Pro49Leu)
NM_000639.3(FASLG):c.147GCCACC[1] (p.Pro52_Pro53del) rs749237778
NM_000639.3(FASLG):c.147GCCACC[3] (p.Pro52_Pro53dup) rs749237778
NM_000639.3(FASLG):c.152C>A (p.Pro51Gln)
NM_000639.3(FASLG):c.156_179dup (p.Leu54_Pro61dup) rs1659086365
NM_000639.3(FASLG):c.162_188dup (p.Pro65_Leu66insProProProProProProLeuProPro)
NM_000639.3(FASLG):c.171GCC[5] (p.Pro62_Leu63insPro)
NM_000639.3(FASLG):c.190_213dup (p.Pro64_Leu71dup) rs1165102233
NM_000639.3(FASLG):c.200C>A (p.Pro67Gln)
NM_000639.3(FASLG):c.221G>A (p.Arg74Lys)
NM_000639.3(FASLG):c.228C>G (p.Asn76Lys)
NM_000639.3(FASLG):c.256A>G (p.Met86Val) rs1659091267
NM_000639.3(FASLG):c.300G>T (p.Gly100=) rs1314891100
NM_000639.3(FASLG):c.313T>C (p.Phe105Leu) rs2101806696
NM_000639.3(FASLG):c.344G>T (p.Arg115Leu)
NM_000639.3(FASLG):c.355A>T (p.Ser119Cys) rs1659104491
NM_000639.3(FASLG):c.362T>G (p.Met121Arg) rs1303419746
NM_000639.3(FASLG):c.368C>T (p.Thr123Ile)
NM_000639.3(FASLG):c.397C>T (p.His133Tyr) rs1414237389
NM_000639.3(FASLG):c.401C>G (p.Pro134Arg) rs766811734
NM_000639.3(FASLG):c.410C>T (p.Pro137Leu)
NM_000639.3(FASLG):c.415G>A (p.Glu139Lys)
NM_000639.3(FASLG):c.424_425delinsTT (p.Glu142Leu)
NM_000639.3(FASLG):c.452-13G>A
NM_000639.3(FASLG):c.452G>A (p.Gly151Asp)
NM_000639.3(FASLG):c.473T>C (p.Met158Thr)
NM_000639.3(FASLG):c.484T>C (p.Trp162Arg) rs2101810526
NM_000639.3(FASLG):c.54T>A (p.Ser18Arg) rs1659080899
NM_000639.3(FASLG):c.592C>T (p.Arg198Trp)
NM_000639.3(FASLG):c.598C>A (p.Gln200Lys) rs2101810632
NM_000639.3(FASLG):c.628A>G (p.Lys210Glu)
NM_000639.3(FASLG):c.631G>A (p.Val211Ile)
NM_000639.3(FASLG):c.637A>G (p.Met213Val)
NM_000639.3(FASLG):c.639G>A (p.Met213Ile)
NM_000639.3(FASLG):c.653A>G (p.Tyr218Cys)
NM_000639.3(FASLG):c.659A>G (p.Gln220Arg) rs1659249691
NM_000639.3(FASLG):c.690G>A (p.Met230Ile) rs999784381
NM_000639.3(FASLG):c.743T>C (p.Val248Ala) rs1571333759
NM_000639.3(FASLG):c.749A>T (p.Asn250Ile) rs376317481
NM_000639.3(FASLG):c.796C>G (p.Leu266Val)
NM_000639.3(FASLG):c.802A>T (p.Asn268Tyr)
NM_000639.3(FASLG):c.91C>T (p.Pro31Ser)
NM_000639.3(FASLG):c.95G>C (p.Cys32Ser) rs1659082010
NM_001370466.1(NOD2):c.-8-1G>C
NM_001370466.1(NOD2):c.-8-2166A>G
NM_001370466.1(NOD2):c.-8-2173G>A
NM_001370466.1(NOD2):c.-8-2184G>A rs771671839
NM_001370466.1(NOD2):c.-8-2184G>T
NM_001370466.1(NOD2):c.-8-2193G>A rs886052043
NM_001370466.1(NOD2):c.-8-2202_-8-2194dup rs2150776605
NM_001370466.1(NOD2):c.-8-2208G>A rs2150776587
NM_001370466.1(NOD2):c.-8-2213A>T
NM_001370466.1(NOD2):c.-8-2214G>A
NM_001370466.1(NOD2):c.-8-2219C>T
NM_001370466.1(NOD2):c.-8G>C
NM_001370466.1(NOD2):c.1022T>C (p.Leu341Pro) rs1964452487
NM_001370466.1(NOD2):c.1057G>A (p.Gly353Ser)
NM_001370466.1(NOD2):c.1058G>A (p.Gly353Asp) rs1964456255
NM_001370466.1(NOD2):c.1066G>T (p.Glu356Ter)
NM_001370466.1(NOD2):c.107G>A (p.Trp36Ter)
NM_001370466.1(NOD2):c.1093G>A (p.Glu365Lys)
NM_001370466.1(NOD2):c.1102T>A (p.Cys368Ser)
NM_001370466.1(NOD2):c.1112C>A (p.Thr371Asn)
NM_001370466.1(NOD2):c.1112C>T (p.Thr371Ile) rs1964461594
NM_001370466.1(NOD2):c.1114G>A (p.Asp372Asn)
NM_001370466.1(NOD2):c.1121C>A (p.Thr374Asn)
NM_001370466.1(NOD2):c.113T>C (p.Val38Ala)
NM_001370466.1(NOD2):c.113_127dup (p.Glu42_Asp43insValLeuSerTrpGlu)
NM_001370466.1(NOD2):c.1141T>G (p.Phe381Val)
NM_001370466.1(NOD2):c.1160A>G (p.Asn387Ser) rs104895429
NM_001370466.1(NOD2):c.1174G>A (p.Ala392Thr)
NM_001370466.1(NOD2):c.1175C>T (p.Ala392Val)
NM_001370466.1(NOD2):c.1184T>G (p.Val395Gly)
NM_001370466.1(NOD2):c.1190C>A (p.Thr397Asn) rs1596864349
NM_001370466.1(NOD2):c.1201G>A (p.Ala401Thr) rs1964470443
NM_001370466.1(NOD2):c.1204G>A (p.Ala402Thr)
NM_001370466.1(NOD2):c.1217T>C (p.Phe406Ser) rs2150809796
NM_001370466.1(NOD2):c.1227G>T (p.Lys409Asn)
NM_001370466.1(NOD2):c.1247A>G (p.Asn416Ser)
NM_001370466.1(NOD2):c.1253del (p.Lys418fs)
NM_001370466.1(NOD2):c.1271G>A (p.Gly424Asp) rs1249578378
NM_001370466.1(NOD2):c.1295G>A (p.Arg432His)
NM_001370466.1(NOD2):c.1309G>A (p.Gly437Arg)
NM_001370466.1(NOD2):c.1309G>T (p.Gly437Trp) rs104895492
NM_001370466.1(NOD2):c.1321C>A (p.Arg441Ser) rs769988393
NM_001370466.1(NOD2):c.1331G>A (p.Arg444His)
NM_001370466.1(NOD2):c.1331G>T (p.Arg444Leu) rs764414933
NM_001370466.1(NOD2):c.1339C>A (p.Gln447Lys)
NM_001370466.1(NOD2):c.1344G>C (p.Glu448Asp) rs1964484718
NM_001370466.1(NOD2):c.1346C>A (p.Thr449Asn) rs1567392113
NM_001370466.1(NOD2):c.1349C>G (p.Ser450Ter)
NM_001370466.1(NOD2):c.1352C>T (p.Ala451Val) rs2150810483
NM_001370466.1(NOD2):c.1360G>A (p.Gly454Ser)
NM_001370466.1(NOD2):c.1367G>A (p.Cys456Tyr)
NM_001370466.1(NOD2):c.1379T>A (p.Val460Asp) rs1964489081
NM_001370466.1(NOD2):c.1382T>C (p.Phe461Ser)
NM_001370466.1(NOD2):c.1397C>T (p.Ser466Phe)
NM_001370466.1(NOD2):c.1402T>G (p.Cys468Gly) rs2150810748
NM_001370466.1(NOD2):c.1406A>G (p.His469Arg) rs104895472
NM_001370466.1(NOD2):c.1418T>A (p.Leu473Ter) rs1964491198
NM_001370466.1(NOD2):c.1429G>A (p.Gly477Arg)
NM_001370466.1(NOD2):c.1429G>T (p.Gly477Trp)
NM_001370466.1(NOD2):c.1430G>A (p.Gly477Glu)
NM_001370466.1(NOD2):c.1434del (p.Ser479fs) rs754761524
NM_001370466.1(NOD2):c.1434dup (p.Ser479fs) rs754761524
NM_001370466.1(NOD2):c.1441A>G (p.Lys481Glu)
NM_001370466.1(NOD2):c.1445C>A (p.Thr482Asn) rs773580517
NM_001370466.1(NOD2):c.1445C>G (p.Thr482Ser)
NM_001370466.1(NOD2):c.1474C>T (p.Gln492Ter) rs1964496675
NM_001370466.1(NOD2):c.1499C>A (p.Pro500His)
NM_001370466.1(NOD2):c.1501C>G (p.Pro501Ala)
NM_001370466.1(NOD2):c.1502C>A (p.Pro501Gln) rs773811702
NM_001370466.1(NOD2):c.1516C>T (p.Gln506Ter)
NM_001370466.1(NOD2):c.1520G>A (p.Gly507Asp)
NM_001370466.1(NOD2):c.1529C>T (p.Pro510Leu) rs1567392735
NM_001370466.1(NOD2):c.1547G>A (p.Arg516His) rs772534917
NM_001370466.1(NOD2):c.154C>T (p.Gln52Ter)
NM_001370466.1(NOD2):c.1559T>A (p.Leu520His)
NM_001370466.1(NOD2):c.1559T>C (p.Leu520Pro) rs762186831
NM_001370466.1(NOD2):c.1564C>A (p.His522Asn) rs1964506383
NM_001370466.1(NOD2):c.1567C>G (p.Leu523Val) rs104895471
NM_001370466.1(NOD2):c.157C>A (p.Pro53Thr)
NM_001370466.1(NOD2):c.1589G>T (p.Gly530Val)
NM_001370466.1(NOD2):c.1591_1596del (p.Leu531_Gly532del) rs104895436
NM_001370466.1(NOD2):c.1616C>T (p.Ser539Leu) rs908511039
NM_001370466.1(NOD2):c.1639C>G (p.Gln547Glu) rs1264862631
NM_001370466.1(NOD2):c.1648C>T (p.Pro550Ser)
NM_001370466.1(NOD2):c.1663C>G (p.Leu555Val)
NM_001370466.1(NOD2):c.1675G>T (p.Val559Leu)
NM_001370466.1(NOD2):c.1708G>A (p.Ala570Thr)
NM_001370466.1(NOD2):c.1723C>T (p.Leu575Phe) rs1964520847
NM_001370466.1(NOD2):c.1729A>G (p.Ile577Val)
NM_001370466.1(NOD2):c.175A>G (p.Arg59Gly)
NM_001370466.1(NOD2):c.1766C>T (p.Ala589Val)
NM_001370466.1(NOD2):c.176G>A (p.Arg59Lys)
NM_001370466.1(NOD2):c.1822C>T (p.Pro608Ser)
NM_001370466.1(NOD2):c.1828_1846del (p.Asn610fs) rs745991254
NM_001370466.1(NOD2):c.1843A>G (p.Arg615Gly) rs1964529815
NM_001370466.1(NOD2):c.1846C>T (p.Leu616Phe)
NM_001370466.1(NOD2):c.1851_1852delinsAA (p.Pro618Thr)
NM_001370466.1(NOD2):c.1852C>A (p.Pro618Thr) rs1228502653
NM_001370466.1(NOD2):c.1856C>T (p.Thr619Met)
NM_001370466.1(NOD2):c.185T>C (p.Leu62Pro)
NM_001370466.1(NOD2):c.1863C>G (p.Cys621Trp)
NM_001370466.1(NOD2):c.1864A>C (p.Ile622Leu) rs1484221771
NM_001370466.1(NOD2):c.186G>A (p.Leu62=) rs1963838182
NM_001370466.1(NOD2):c.1874C>T (p.Ser625Leu)
NM_001370466.1(NOD2):c.1886A>T (p.Asp629Val) rs2150812781
NM_001370466.1(NOD2):c.1891A>G (p.Ser631Gly)
NM_001370466.1(NOD2):c.1915G>A (p.Ala639Thr)
NM_001370466.1(NOD2):c.1938C>G (p.Ile646Met)
NM_001370466.1(NOD2):c.1939A>G (p.Thr647Ala)
NM_001370466.1(NOD2):c.193G>T (p.Val65Phe) rs187264529
NM_001370466.1(NOD2):c.1949T>C (p.Phe650Ser) rs2150813115
NM_001370466.1(NOD2):c.1976A>C (p.His659Pro)
NM_001370466.1(NOD2):c.2026C>G (p.Arg676Gly) rs5743277
NM_001370466.1(NOD2):c.2027G>T (p.Arg676Leu)
NM_001370466.1(NOD2):c.202A>G (p.Lys68Glu) rs2150781997
NM_001370466.1(NOD2):c.2032G>T (p.Ala678Ser)
NM_001370466.1(NOD2):c.2041C>T (p.Arg681Cys)
NM_001370466.1(NOD2):c.2042G>C (p.Arg681Pro)
NM_001370466.1(NOD2):c.2042G>T (p.Arg681Leu) rs35285618
NM_001370466.1(NOD2):c.2066G>T (p.Arg689Leu)
NM_001370466.1(NOD2):c.2079C>A (p.His693Gln)
NM_001370466.1(NOD2):c.208A>G (p.Thr70Ala)
NM_001370466.1(NOD2):c.2096C>T (p.Ala699Val)
NM_001370466.1(NOD2):c.2098C>T (p.Pro700Ser) rs1338599093
NM_001370466.1(NOD2):c.2099C>A (p.Pro700Gln)
NM_001370466.1(NOD2):c.2101G>A (p.Gly701Ser) rs1964553940
NM_001370466.1(NOD2):c.2106G>T (p.Glu702Asp)
NM_001370466.1(NOD2):c.2114G>A (p.Ser705Asn)
NM_001370466.1(NOD2):c.2115C>A (p.Ser705Arg)
NM_001370466.1(NOD2):c.2119C>T (p.His707Tyr)
NM_001370466.1(NOD2):c.2123C>T (p.Ala708Val)
NM_001370466.1(NOD2):c.2137A>G (p.Ile713Val)
NM_001370466.1(NOD2):c.2156T>C (p.Leu719Pro)
NM_001370466.1(NOD2):c.2158T>C (p.Tyr720His) rs2150814130
NM_001370466.1(NOD2):c.2163G>C (p.Glu721Asp)
NM_001370466.1(NOD2):c.2171A>G (p.Glu724Gly) rs1964561689
NM_001370466.1(NOD2):c.2186G>T (p.Arg729Leu) rs375713299
NM_001370466.1(NOD2):c.2226G>C (p.Leu742Phe) rs1266638330
NM_001370466.1(NOD2):c.2230T>A (p.Phe744Ile)
NM_001370466.1(NOD2):c.2237G>A (p.Ser746Asn)
NM_001370466.1(NOD2):c.2243G>A (p.Gly748Asp)
NM_001370466.1(NOD2):c.2245C>T (p.Pro749Ser) rs1264795843
NM_001370466.1(NOD2):c.2253G>C (p.Glu751Asp)
NM_001370466.1(NOD2):c.2261C>T (p.Ala754Val)
NM_001370466.1(NOD2):c.2267C>G (p.Ala756Gly)
NM_001370466.1(NOD2):c.2276T>G (p.Leu759Arg) rs2150814646
NM_001370466.1(NOD2):c.2294C>G (p.Pro765Arg) rs1964571054
NM_001370466.1(NOD2):c.2297T>G (p.Val766Gly) rs1200152449
NM_001370466.1(NOD2):c.2314T>C (p.Tyr772His)
NM_001370466.1(NOD2):c.2323G>A (p.Val775Met) rs1964574298
NM_001370466.1(NOD2):c.2336G>T (p.Gly779Val) rs2150814954
NM_001370466.1(NOD2):c.2337C>T (p.Gly779=) rs199475916
NM_001370466.1(NOD2):c.2363G>T (p.Gly788Val) rs1964577394
NM_001370466.1(NOD2):c.2369G>A (p.Cys790Tyr)
NM_001370466.1(NOD2):c.2382-14T>G rs2150823709
NM_001370466.1(NOD2):c.238_239delinsAG (p.Ala80Ser)
NM_001370466.1(NOD2):c.2413A>G (p.Ile805Val) rs765335094
NM_001370466.1(NOD2):c.2414T>C (p.Ile805Thr) rs2150823869
NM_001370466.1(NOD2):c.2418C>T (p.Cys806=)
NM_001370466.1(NOD2):c.2419A>C (p.Lys807Gln) rs1964807205
NM_001370466.1(NOD2):c.241C>T (p.Gln81Ter)
NM_001370466.1(NOD2):c.2458_2460del (p.Lys820del) rs2150823997
NM_001370466.1(NOD2):c.2466-12G>A rs2150824449
NM_001370466.1(NOD2):c.2466-8C>G rs1178978578
NM_001370466.1(NOD2):c.2485A>C (p.Thr829Pro)
NM_001370466.1(NOD2):c.2491G>A (p.Gly831Ser)
NM_001370466.1(NOD2):c.2495G>A (p.Cys832Tyr)
NM_001370466.1(NOD2):c.2495dup (p.Cys832fs) rs1555500626
NM_001370466.1(NOD2):c.2501A>C (p.His834Pro) rs763542516
NM_001370466.1(NOD2):c.2509G>C (p.Ala837Pro)
NM_001370466.1(NOD2):c.2515C>G (p.Leu839Val) rs1000799073
NM_001370466.1(NOD2):c.2518C>T (p.Leu840Phe)
NM_001370466.1(NOD2):c.2521G>A (p.Ala841Thr)
NM_001370466.1(NOD2):c.2525G>T (p.Cys842Phe) rs749157324
NM_001370466.1(NOD2):c.2548A>G (p.Arg850Gly)
NM_001370466.1(NOD2):c.2557A>T (p.Asn853Tyr)
NM_001370466.1(NOD2):c.2567T>C (p.Ile856Thr)
NM_001370466.1(NOD2):c.2585A>C (p.Gln862Pro)
NM_001370466.1(NOD2):c.2590C>G (p.Leu864Val)
NM_001370466.1(NOD2):c.2606G>A (p.Arg869Gln)
NM_001370466.1(NOD2):c.2610C>T (p.Gly870=)
NM_001370466.1(NOD2):c.2624A>G (p.Gln875Arg)
NM_001370466.1(NOD2):c.2625G>T (p.Gln875His) rs200428513
NM_001370466.1(NOD2):c.262C>T (p.Gln88Ter) rs2150782258
NM_001370466.1(NOD2):c.2633+3A>C rs767535551
NM_001370466.1(NOD2):c.2647A>G (p.Arg883Gly)
NM_001370466.1(NOD2):c.2648G>C (p.Arg883Thr) rs1354091032
NM_001370466.1(NOD2):c.2665G>A (p.Ala889Thr)
NM_001370466.1(NOD2):c.2671G>T (p.Ala891Ser) rs769395722
NM_001370466.1(NOD2):c.2677G>T (p.Ala893Ser)
NM_001370466.1(NOD2):c.2689G>A (p.Gly897Ser) rs2150833269
NM_001370466.1(NOD2):c.2697C>G (p.His899Gln) rs1242042498
NM_001370466.1(NOD2):c.2726G>A (p.Gly909Glu) rs542558237
NM_001370466.1(NOD2):c.2737G>A (p.Gly913Ser)
NM_001370466.1(NOD2):c.2752C>T (p.Gln918Ter) rs1394622344
NM_001370466.1(NOD2):c.2769G>T (p.Met923Ile)
NM_001370466.1(NOD2):c.2807A>G (p.Glu936Gly) rs1555501675
NM_001370466.1(NOD2):c.2831G>A (p.Gly944Asp) rs1187029221
NM_001370466.1(NOD2):c.2831G>C (p.Gly944Ala)
NM_001370466.1(NOD2):c.2833G>A (p.Val945Ile) rs104895455
NM_001370466.1(NOD2):c.2837G>A (p.Cys946Tyr)
NM_001370466.1(NOD2):c.2840C>G (p.Ser947Cys)
NM_001370466.1(NOD2):c.2842C>G (p.Leu948Val) rs1337759230
NM_001370466.1(NOD2):c.2878A>T (p.Ile960Phe) rs2150836993
NM_001370466.1(NOD2):c.2885+12A>G rs751255487
NM_001370466.1(NOD2):c.2886G>A (p.Lys962=) rs1965389837
NM_001370466.1(NOD2):c.2906C>T (p.Thr969Ile) rs1567407613
NM_001370466.1(NOD2):c.2915G>C (p.Gly972Ala) rs1238071864
NM_001370466.1(NOD2):c.2917del (p.Ala973fs)
NM_001370466.1(NOD2):c.292C>T (p.Pro98Ser) rs1963848568
NM_001370466.1(NOD2):c.2944A>G (p.Arg982Gly) rs771490210
NM_001370466.1(NOD2):c.2948A>G (p.Asn983Ser)
NM_001370466.1(NOD2):c.2957T>C (p.Ile986Thr) rs2150843373
NM_001370466.1(NOD2):c.295C>A (p.His99Asn)
NM_001370466.1(NOD2):c.2974C>G (p.Arg992Gly) rs104895491
NM_001370466.1(NOD2):c.2975G>A (p.Arg992Gln) rs5743295
NM_001370466.1(NOD2):c.2975G>T (p.Arg992Leu) rs5743295
NM_001370466.1(NOD2):c.29A>G (p.Gln10Arg)
NM_001370466.1(NOD2):c.3001G>A (p.Val1001Ile) rs1340958111
NM_001370466.1(NOD2):c.3002T>C (p.Val1001Ala)
NM_001370466.1(NOD2):c.3022G>A (p.Asp1008Asn) rs2150846563
NM_001370466.1(NOD2):c.3036G>T (p.Leu1012Phe)
NM_001370466.1(NOD2):c.3037C>A (p.Leu1013Ile)
NM_001370466.1(NOD2):c.31A>G (p.Arg11Gly) rs903928432
NM_001370466.1(NOD2):c.325_326del (p.His110fs) rs1567381106
NM_001370466.1(NOD2):c.35G>A (p.Ser12Asn) rs1567380395
NM_001370466.1(NOD2):c.373A>G (p.Met125Val) rs2150782623
NM_001370466.1(NOD2):c.375G>T (p.Met125Ile)
NM_001370466.1(NOD2):c.376_377insA (p.Leu126fs)
NM_001370466.1(NOD2):c.383T>G (p.Leu128Arg) rs148753593
NM_001370466.1(NOD2):c.397G>A (p.Gly133Ser)
NM_001370466.1(NOD2):c.40C>G (p.Leu14Val) rs761191478
NM_001370466.1(NOD2):c.418T>G (p.Cys140Gly)
NM_001370466.1(NOD2):c.425A>G (p.Glu142Gly)
NM_001370466.1(NOD2):c.43G>C (p.Val15Leu) rs1963826129
NM_001370466.1(NOD2):c.448C>G (p.Pro150Ala) rs1356803976
NM_001370466.1(NOD2):c.452_453delinsTG (p.Ser151Leu)
NM_001370466.1(NOD2):c.458G>A (p.Arg153Lys) rs1259750235
NM_001370466.1(NOD2):c.459+1G>A rs1425704084
NM_001370466.1(NOD2):c.459+3G>T rs1384904015
NM_001370466.1(NOD2):c.476A>G (p.Asp159Gly)
NM_001370466.1(NOD2):c.497A>G (p.Asn166Ser) rs1964272038
NM_001370466.1(NOD2):c.509C>T (p.Ala170Val)
NM_001370466.1(NOD2):c.529C>T (p.Gln177Ter)
NM_001370466.1(NOD2):c.545C>A (p.Pro182Gln)
NM_001370466.1(NOD2):c.550G>T (p.Ala184Ser) rs771887760
NM_001370466.1(NOD2):c.578A>G (p.Lys193Arg)
NM_001370466.1(NOD2):c.62G>C (p.Gly21Ala) rs758548184
NM_001370466.1(NOD2):c.631A>T (p.Ser211Cys) rs1001861018
NM_001370466.1(NOD2):c.664G>A (p.Glu222Lys)
NM_001370466.1(NOD2):c.667G>A (p.Asp223Asn)
NM_001370466.1(NOD2):c.670A>G (p.Ile224Val)
NM_001370466.1(NOD2):c.676A>G (p.Thr226Ala)
NM_001370466.1(NOD2):c.699G>C (p.Trp233Cys)
NM_001370466.1(NOD2):c.706G>A (p.Val236Met) rs756042160
NM_001370466.1(NOD2):c.70G>T (p.Glu24Ter)
NM_001370466.1(NOD2):c.712A>T (p.Met238Leu) rs1964425967
NM_001370466.1(NOD2):c.715del (p.Ala239fs) rs772914954
NM_001370466.1(NOD2):c.721C>G (p.Pro241Ala)
NM_001370466.1(NOD2):c.725C>T (p.Pro242Leu)
NM_001370466.1(NOD2):c.745C>G (p.Leu249Val)
NM_001370466.1(NOD2):c.758A>G (p.Glu253Gly)
NM_001370466.1(NOD2):c.77T>C (p.Phe26Ser)
NM_001370466.1(NOD2):c.781del (p.Leu261fs) rs1964431434
NM_001370466.1(NOD2):c.782T>C (p.Leu261Pro)
NM_001370466.1(NOD2):c.794C>A (p.Ala265Glu) rs149338478
NM_001370466.1(NOD2):c.79G>A (p.Glu27Lys)
NM_001370466.1(NOD2):c.802G>A (p.Val268Met)
NM_001370466.1(NOD2):c.809dup (p.Val271fs)
NM_001370466.1(NOD2):c.817G>T (p.Glu273Ter)
NM_001370466.1(NOD2):c.824del (p.Gly275fs) rs2150808087
NM_001370466.1(NOD2):c.856C>T (p.His286Tyr) rs1462834850
NM_001370466.1(NOD2):c.868dup (p.Ala290fs) rs2150808264
NM_001370466.1(NOD2):c.899_900del (p.Phe300fs)
NM_001370466.1(NOD2):c.8C>G (p.Ser3Trp) rs768775316
NM_001370466.1(NOD2):c.8C>T (p.Ser3Leu) rs768775316
NM_001370466.1(NOD2):c.920G>C (p.Arg307Pro)
NM_001370466.1(NOD2):c.938C>G (p.Ala313Gly) rs774016655
NM_001370466.1(NOD2):c.953T>C (p.Val318Ala)
NM_001370466.1(NOD2):c.973C>T (p.His325Tyr)
NM_001370466.1(NOD2):c.979T>C (p.Cys327Arg)
NM_001370466.1(NOD2):c.989A>G (p.Asp330Gly) rs104895469
NM_001370466.1(NOD2):c.992T>G (p.Val331Gly) rs2150808820
NM_001370466.1(NOD2):c.995G>A (p.Gly332Asp)
NM_001372051.1(CASP8):c.1012T>C (p.Ser338Pro) rs771197994
NM_001372051.1(CASP8):c.1042C>G (p.Leu348Val)
NM_001372051.1(CASP8):c.1057A>G (p.Lys353Glu)
NM_001372051.1(CASP8):c.1103G>C (p.Gly368Ala) rs758525204
NM_001372051.1(CASP8):c.1109C>T (p.Pro370Leu) rs2125485864
NM_001372051.1(CASP8):c.1118C>T (p.Thr373Ile) rs2125486142
NM_001372051.1(CASP8):c.112A>G (p.Ile38Val)
NM_001372051.1(CASP8):c.1175A>G (p.Tyr392Cys)
NM_001372051.1(CASP8):c.1198C>A (p.Leu400Met) rs2125488841
NM_001372051.1(CASP8):c.1211C>G (p.Ala404Gly) rs2125489288
NM_001372051.1(CASP8):c.1264A>C (p.Ile422Leu)
NM_001372051.1(CASP8):c.1292A>T (p.Glu431Val) rs2125491805
NM_001372051.1(CASP8):c.1294C>T (p.Arg432Ter)
NM_001372051.1(CASP8):c.1304+2T>C rs768000891
NM_001372051.1(CASP8):c.1304G>A (p.Arg435Gln)
NM_001372051.1(CASP8):c.1322C>T (p.Thr441Ile)
NM_001372051.1(CASP8):c.1349_1352del (p.Val450fs)
NM_001372051.1(CASP8):c.1378G>T (p.Gly460Trp)
NM_001372051.1(CASP8):c.1415A>G (p.Lys472Arg)
NM_001372051.1(CASP8):c.155G>A (p.Arg52Lys)
NM_001372051.1(CASP8):c.159G>C (p.Met53Ile) rs200261147
NM_001372051.1(CASP8):c.23A>G (p.Tyr8Cys) rs895052255
NM_001372051.1(CASP8):c.244A>G (p.Arg82Gly)
NM_001372051.1(CASP8):c.25G>A (p.Asp9Asn)
NM_001372051.1(CASP8):c.262A>G (p.Arg88Gly)
NM_001372051.1(CASP8):c.26A>G (p.Asp9Gly) rs1270676492
NM_001372051.1(CASP8):c.293T>G (p.Ile98Ser)
NM_001372051.1(CASP8):c.306-1926A>G rs1252394250
NM_001372051.1(CASP8):c.306-1954C>G rs988514241
NM_001372051.1(CASP8):c.306-1971A>G rs1559354162
NM_001372051.1(CASP8):c.306-1974C>A
NM_001372051.1(CASP8):c.306-1990A>G
NM_001372051.1(CASP8):c.306-1992G>A
NM_001372051.1(CASP8):c.306-2006G>A
NM_001372051.1(CASP8):c.306G>A (p.Arg102=)
NM_001372051.1(CASP8):c.323T>C (p.Ile108Thr)
NM_001372051.1(CASP8):c.329AAG[1] (p.Glu111del) rs763516126
NM_001372051.1(CASP8):c.342A>T (p.Arg114Ser)
NM_001372051.1(CASP8):c.367C>A (p.Leu123Ile)
NM_001372051.1(CASP8):c.397C>G (p.Leu133Val) rs1576325415
NM_001372051.1(CASP8):c.401A>T (p.Asp134Val) rs2125234946
NM_001372051.1(CASP8):c.412-16T>G rs1559357686
NM_001372051.1(CASP8):c.415C>A (p.Leu139Met) rs1948345294
NM_001372051.1(CASP8):c.43G>A (p.Asp15Asn) rs1947837560
NM_001372051.1(CASP8):c.455T>G (p.Leu152Arg)
NM_001372051.1(CASP8):c.485G>T (p.Arg162Ile)
NM_001372051.1(CASP8):c.48T>A (p.Ser16Arg) rs1401364865
NM_001372051.1(CASP8):c.491G>T (p.Cys164Phe)
NM_001372051.1(CASP8):c.505A>C (p.Lys169Gln)
NM_001372051.1(CASP8):c.509G>A (p.Ser170Asn)
NM_001372051.1(CASP8):c.519G>C (p.Lys173Asn) rs1268336616
NM_001372051.1(CASP8):c.519G>T (p.Lys173Asn)
NM_001372051.1(CASP8):c.520A>G (p.Ile174Val) rs1042533208
NM_001372051.1(CASP8):c.550+3A>G
NM_001372051.1(CASP8):c.607T>A (p.Cys203Ser) rs2125291868
NM_001372051.1(CASP8):c.618G>C (p.Met206Ile)
NM_001372051.1(CASP8):c.637A>G (p.Arg213Gly) rs2125292256
NM_001372051.1(CASP8):c.651T>G (p.Ser217Arg) rs2125292466
NM_001372051.1(CASP8):c.655T>G (p.Ser219Ala)
NM_001372051.1(CASP8):c.659A>G (p.Gln220Arg) rs1948529448
NM_001372051.1(CASP8):c.673G>C (p.Val225Leu) rs2125318792
NM_001372051.1(CASP8):c.68A>G (p.Lys23Arg)
NM_001372051.1(CASP8):c.697C>G (p.Arg233Gly)
NM_001372051.1(CASP8):c.701G>A (p.Gly234Glu) rs1390728717
NM_001372051.1(CASP8):c.706T>C (p.Cys236Arg)
NM_001372051.1(CASP8):c.709C>G (p.Leu237Val) rs1948665527
NM_001372051.1(CASP8):c.749A>G (p.Lys250Arg)
NM_001372051.1(CASP8):c.761T>G (p.Leu254Arg) rs1576347035
NM_001372051.1(CASP8):c.775G>A (p.Asp259Asn) rs573893736
NM_001372051.1(CASP8):c.799G>A (p.Ala267Thr) rs2125321684
NM_001372051.1(CASP8):c.812C>G (p.Thr271Ser) rs1553607264
NM_001372051.1(CASP8):c.815C>A (p.Thr272Lys)
NM_001372051.1(CASP8):c.815C>G (p.Thr272Arg) rs139337151
NM_001372051.1(CASP8):c.824A>G (p.Glu275Gly)
NM_001372051.1(CASP8):c.853G>A (p.Asp285Asn) rs1045485
NM_001372051.1(CASP8):c.883A>G (p.Ile295Val) rs979257464
NM_001372051.1(CASP8):c.896A>C (p.Tyr299Ser) rs1389538802
NM_001372051.1(CASP8):c.901C>A (p.Leu301Ile)
NM_001372051.1(CASP8):c.91C>T (p.Pro31Ser) rs1559350009
NM_001372051.1(CASP8):c.920T>G (p.Met307Arg)
NM_001372051.1(CASP8):c.940A>G (p.Ile314Val) rs2125482048
NM_001372051.1(CASP8):c.959A>C (p.Lys320Thr) rs2125482312
NM_001372051.1(CASP8):c.971A>T (p.Tyr324Phe) rs1949486267
NM_001372051.1(CASP8):c.994C>T (p.Pro332Ser) rs779065011
NM_001372051.1(CASP8):c.99G>T (p.Arg33Ser)
NM_005214.5(CTLA4):c.137T>C (p.Val46Ala) rs2105775135
NM_005214.5(CTLA4):c.143C>A (p.Ala48Asp)
NM_005214.5(CTLA4):c.154G>A (p.Gly52Ser)
NM_005214.5(CTLA4):c.155G>T (p.Gly52Val) rs1688712533
NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr) rs1553657387
NM_005214.5(CTLA4):c.164G>A (p.Ser55Asn)
NM_005214.5(CTLA4):c.173G>C (p.Cys58Ser) rs1581573671
NM_005214.5(CTLA4):c.173G>T (p.Cys58Phe)
NM_005214.5(CTLA4):c.188C>T (p.Pro63Leu)
NM_005214.5(CTLA4):c.194A>G (p.Lys65Arg)
NM_005214.5(CTLA4):c.205G>A (p.Val69Ile)
NM_005214.5(CTLA4):c.224G>A (p.Arg75Gln) rs1196646336
NM_005214.5(CTLA4):c.229G>A (p.Ala77Thr)
NM_005214.5(CTLA4):c.238C>G (p.Gln80Glu)
NM_005214.5(CTLA4):c.23G>T (p.Arg8Leu)
NM_005214.5(CTLA4):c.254G>A (p.Cys85Tyr) rs2105775283
NM_005214.5(CTLA4):c.254G>C (p.Cys85Ser)
NM_005214.5(CTLA4):c.255T>G (p.Cys85Trp) rs1688715115
NM_005214.5(CTLA4):c.257C>G (p.Ala86Gly) rs376038796
NM_005214.5(CTLA4):c.263C>A (p.Thr88Asn)
NM_005214.5(CTLA4):c.266A>G (p.Tyr89Cys) rs1559591751
NM_005214.5(CTLA4):c.272T>G (p.Met91Arg) rs1065442
NM_005214.5(CTLA4):c.295G>C (p.Asp99His)
NM_005214.5(CTLA4):c.304A>G (p.Ile102Val)
NM_005214.5(CTLA4):c.308G>A (p.Cys103Tyr)
NM_005214.5(CTLA4):c.325G>A (p.Gly109Arg)
NM_005214.5(CTLA4):c.344C>T (p.Thr115Ile)
NM_005214.5(CTLA4):c.352G>A (p.Gly118Arg) rs764089901
NM_005214.5(CTLA4):c.356T>A (p.Leu119Gln)
NM_005214.5(CTLA4):c.364A>G (p.Met122Val)
NM_005214.5(CTLA4):c.370A>C (p.Thr124Pro)
NM_005214.5(CTLA4):c.370A>T (p.Thr124Ser) rs1286462906
NM_005214.5(CTLA4):c.373G>A (p.Gly125Arg) rs1553657427
NM_005214.5(CTLA4):c.374G>A (p.Gly125Glu) rs1553657428
NM_005214.5(CTLA4):c.380A>G (p.Tyr127Cys) rs1688717498
NM_005214.5(CTLA4):c.385T>A (p.Cys129Ser) rs2105775473
NM_005214.5(CTLA4):c.394G>A (p.Glu132Lys) rs1581573888
NM_005214.5(CTLA4):c.397C>A (p.Leu133Ile) rs1688717773
NM_005214.5(CTLA4):c.400A>G (p.Met134Val)
NM_005214.5(CTLA4):c.410C>A (p.Pro137Gln) rs1553657429
NM_005214.5(CTLA4):c.413C>T (p.Pro138Leu)
NM_005214.5(CTLA4):c.415T>C (p.Tyr139His)
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys) rs1581573923
NM_005214.5(CTLA4):c.422T>C (p.Leu141Pro) rs1357774202
NM_005214.5(CTLA4):c.430G>A (p.Gly144Ser)
NM_005214.5(CTLA4):c.430G>T (p.Gly144Cys) rs1559591850
NM_005214.5(CTLA4):c.432C>T (p.Gly144=) rs2105775528
NM_005214.5(CTLA4):c.436_437delinsCT (p.Gly146Leu) rs1559591863
NM_005214.5(CTLA4):c.439A>G (p.Thr147Ala) rs1466152724
NM_005214.5(CTLA4):c.455T>C (p.Ile152Thr) rs1688719095
NM_005214.5(CTLA4):c.456T>A (p.Ile152=) rs1242260236
NM_005214.5(CTLA4):c.457+4A>G rs1553657438
NM_005214.5(CTLA4):c.457+6C>G rs1688719278
NM_005214.5(CTLA4):c.457G>T (p.Asp153Tyr)
NM_005214.5(CTLA4):c.460C>A (p.Pro154Thr)
NM_005214.5(CTLA4):c.463G>A (p.Glu155Lys) rs2105775980
NM_005214.5(CTLA4):c.482A>C (p.Asp161Ala) rs2105776000
NM_005214.5(CTLA4):c.487C>G (p.Leu163Val) rs1581574315
NM_005214.5(CTLA4):c.487C>T (p.Leu163Phe)
NM_005214.5(CTLA4):c.506C>A (p.Ala169Glu)
NM_005214.5(CTLA4):c.50C>T (p.Thr17Ile)
NM_005214.5(CTLA4):c.519GTT[1] (p.Leu174del)
NM_005214.5(CTLA4):c.522del (p.Leu174fs) rs2105776035
NM_005214.5(CTLA4):c.524T>A (p.Phe175Tyr)
NM_005214.5(CTLA4):c.529dup (p.Tyr177fs) rs1688731180
NM_005214.5(CTLA4):c.531T>A (p.Tyr177Ter) rs1688731278
NM_005214.5(CTLA4):c.538C>A (p.Leu180Ile)
NM_005214.5(CTLA4):c.567+1G>A rs1553657487
NM_005214.5(CTLA4):c.567+3G>A rs1688732320
NM_005214.5(CTLA4):c.567+5G>A
NM_005214.5(CTLA4):c.567G>A (p.Met189Ile) rs1688732243
NM_005214.5(CTLA4):c.568C>T (p.Leu190=)
NM_005214.5(CTLA4):c.56C>T (p.Thr19Ile)
NM_005214.5(CTLA4):c.596G>A (p.Gly199Glu) rs2105777131
NM_005214.5(CTLA4):c.597G>T (p.Gly199=)
NM_005214.5(CTLA4):c.598G>T (p.Val200Phe) rs1046533169
NM_005214.5(CTLA4):c.625C>G (p.Pro209Ala) rs1688757670
NM_005214.5(CTLA4):c.632G>A (p.Cys211Tyr) rs1688757847
NM_005214.5(CTLA4):c.654T>A (p.Tyr218Ter)
NM_005214.5(CTLA4):c.659T>C (p.Ile220Thr)
NM_005214.5(CTLA4):c.665T>A (p.Ile222Asn) rs1688758291
NM_005214.5(CTLA4):c.68C>T (p.Thr23Ile) rs1365829864
NM_005214.5(CTLA4):c.97G>A (p.Val33Ile) rs2105772910
NM_006254.4(PRKCD):c.1003G>A (p.Gly335Ser) rs564822118
NM_006254.4(PRKCD):c.1025G>T (p.Ser342Ile)
NM_006254.4(PRKCD):c.1034A>T (p.Asn345Ile)
NM_006254.4(PRKCD):c.1040A>G (p.Asn347Ser) rs1553668944
NM_006254.4(PRKCD):c.1041C>A (p.Asn347Lys)
NM_006254.4(PRKCD):c.1059G>C (p.Lys353Asn)
NM_006254.4(PRKCD):c.1060G>C (p.Val354Leu) rs782601434
NM_006254.4(PRKCD):c.1081G>A (p.Gly361Arg) rs369078144
NM_006254.4(PRKCD):c.1083G>T (p.Gly361=)
NM_006254.4(PRKCD):c.1102C>A (p.Leu368Met)
NM_006254.4(PRKCD):c.1102C>G (p.Leu368Val)
NM_006254.4(PRKCD):c.1118A>G (p.Glu373Gly)
NM_006254.4(PRKCD):c.1165G>A (p.Asp389Asn)
NM_006254.4(PRKCD):c.1180A>G (p.Thr394Ala)
NM_006254.4(PRKCD):c.1196G>C (p.Arg399Pro)
NM_006254.4(PRKCD):c.119G>A (p.Arg40His)
NM_006254.4(PRKCD):c.1211C>G (p.Ala404Gly) rs782150167
NM_006254.4(PRKCD):c.1213G>T (p.Ala405Ser)
NM_006254.4(PRKCD):c.1240A>C (p.Ile414Leu)
NM_006254.4(PRKCD):c.1260+3G>T
NM_006254.4(PRKCD):c.1292A>G (p.Asn431Ser)
NM_006254.4(PRKCD):c.1294G>A (p.Gly432Arg) rs1190070838
NM_006254.4(PRKCD):c.1306A>T (p.Met436Leu) rs1439886101
NM_006254.4(PRKCD):c.1329C>T (p.Gly443=) rs1018675596
NM_006254.4(PRKCD):c.1330C>T (p.Arg444Cys)
NM_006254.4(PRKCD):c.1331G>A (p.Arg444His)
NM_006254.4(PRKCD):c.1345C>T (p.Arg449Cys) rs1575542392
NM_006254.4(PRKCD):c.1396A>G (p.Ser466Gly)
NM_006254.4(PRKCD):c.139AAG[1] (p.Lys48del) rs2107256592
NM_006254.4(PRKCD):c.140A>C (p.Lys47Thr) rs1553666756
NM_006254.4(PRKCD):c.1415+4C>T
NM_006254.4(PRKCD):c.1415+5G>A
NM_006254.4(PRKCD):c.141G>C (p.Lys47Asn)
NM_006254.4(PRKCD):c.1433A>G (p.Asn478Ser)
NM_006254.4(PRKCD):c.1439T>C (p.Leu480Pro) rs1703806197
NM_006254.4(PRKCD):c.1450G>A (p.Asp484Asn) rs1703807403
NM_006254.4(PRKCD):c.1469C>T (p.Ala490Val)
NM_006254.4(PRKCD):c.1501G>A (p.Gly501Arg)
NM_006254.4(PRKCD):c.1511G>T (p.Arg504Leu)
NM_006254.4(PRKCD):c.151A>G (p.Met51Val)
NM_006254.4(PRKCD):c.1637C>A (p.Ser546Tyr)
NM_006254.4(PRKCD):c.1637C>T (p.Ser546Phe) rs1703824527
NM_006254.4(PRKCD):c.1652A>G (p.Asp551Gly) rs1703825504
NM_006254.4(PRKCD):c.1702C>T (p.Pro568Ser) rs1703828073
NM_006254.4(PRKCD):c.1707C>G (p.Arg569=) rs1575544912
NM_006254.4(PRKCD):c.170C>T (p.Ser57Leu) rs913175157
NM_006254.4(PRKCD):c.1722G>T (p.Glu574Asp) rs2107286422
NM_006254.4(PRKCD):c.1729G>A (p.Asp577Asn)
NM_006254.4(PRKCD):c.1743+10CTGGG[4] rs1192292366
NM_006254.4(PRKCD):c.1763C>G (p.Thr588Ser) rs1703859591
NM_006254.4(PRKCD):c.1781_1782delinsTG (p.Thr594Met) rs1575545467
NM_006254.4(PRKCD):c.1784G>A (p.Gly595Glu) rs1352945164
NM_006254.4(PRKCD):c.1797C>G (p.Ile599Met)
NM_006254.4(PRKCD):c.1801C>G (p.Pro601Ala) rs1703861977
NM_006254.4(PRKCD):c.1805T>C (p.Phe602Ser)
NM_006254.4(PRKCD):c.1822T>C (p.Trp608Arg) rs1703863535
NM_006254.4(PRKCD):c.1831C>A (p.Leu611Met)
NM_006254.4(PRKCD):c.1847T>G (p.Leu616Trp) rs2107288493
NM_006254.4(PRKCD):c.1871T>C (p.Val624Ala) rs782223641
NM_006254.4(PRKCD):c.1872+1G>A rs782367516
NM_006254.4(PRKCD):c.1873-3T>C rs1703944773
NM_006254.4(PRKCD):c.187A>G (p.Ile63Val)
NM_006254.4(PRKCD):c.1893T>G (p.Ser631Arg)
NM_006254.4(PRKCD):c.1926_1927delinsAT (p.Arg643Cys)
NM_006254.4(PRKCD):c.2016C>A (p.His672Gln) rs1553671108
NM_006254.4(PRKCD):c.2024A>G (p.Glu675Gly)
NM_006254.4(PRKCD):c.2026G>T (p.Asp676Tyr) rs2107293780
NM_006254.4(PRKCD):c.2030G>T (p.Ter677Leu) rs2107293797
NM_006254.4(PRKCD):c.214G>A (p.Val72Met) rs151061939
NM_006254.4(PRKCD):c.250G>A (p.Val84Met)
NM_006254.4(PRKCD):c.250G>T (p.Val84Leu) rs1327842167
NM_006254.4(PRKCD):c.266C>T (p.Ser89Leu)
NM_006254.4(PRKCD):c.280C>T (p.Arg94Cys) rs963574725
NM_006254.4(PRKCD):c.287A>G (p.Lys96Arg)
NM_006254.4(PRKCD):c.305C>T (p.Ala102Val) rs2107257453
NM_006254.4(PRKCD):c.30C>A (p.Asn10Lys)
NM_006254.4(PRKCD):c.340G>C (p.Val114Leu) rs2107261818
NM_006254.4(PRKCD):c.376+6A>G rs2107261999
NM_006254.4(PRKCD):c.376G>T (p.Asp126Tyr) rs1553667410
NM_006254.4(PRKCD):c.377-7T>A rs372103939
NM_006254.4(PRKCD):c.389C>T (p.Ser130Phe)
NM_006254.4(PRKCD):c.405C>G (p.Asp135Glu) rs200462015
NM_006254.4(PRKCD):c.417C>G (p.Phe139Leu) rs56208295
NM_006254.4(PRKCD):c.421A>G (p.Thr141Ala) rs1703439359
NM_006254.4(PRKCD):c.422C>T (p.Thr141Met)
NM_006254.4(PRKCD):c.433C>T (p.Arg145Cys) rs2107262808
NM_006254.4(PRKCD):c.442A>G (p.Ile148Val) rs1559624784
NM_006254.4(PRKCD):c.446A>G (p.Lys149Arg) rs74793932
NM_006254.4(PRKCD):c.44G>A (p.Gly15Asp) rs369358922
NM_006254.4(PRKCD):c.458T>C (p.Ile153Thr) rs370103982
NM_006254.4(PRKCD):c.488C>T (p.Ala163Val)
NM_006254.4(PRKCD):c.544C>T (p.Leu182Phe) rs1553667592
NM_006254.4(PRKCD):c.563A>G (p.Lys188Arg)
NM_006254.4(PRKCD):c.56C>T (p.Ala19Val) rs2107253193
NM_006254.4(PRKCD):c.572-6T>C rs2107267620
NM_006254.4(PRKCD):c.578A>G (p.Asn193Ser) rs2107267626
NM_006254.4(PRKCD):c.581C>T (p.Ala194Val) rs1553668112
NM_006254.4(PRKCD):c.610A>T (p.Ile204Phe) rs1575537929
NM_006254.4(PRKCD):c.646C>T (p.Arg216Trp) rs782269447
NM_006254.4(PRKCD):c.657+6C>G rs1397485856
NM_006254.4(PRKCD):c.671G>A (p.Arg224His) rs1553668239
NM_006254.4(PRKCD):c.680T>C (p.Ile227Thr)
NM_006254.4(PRKCD):c.743G>A (p.Gly248Asp) rs1703547897
NM_006254.4(PRKCD):c.744C>T (p.Gly248=) rs147545646
NM_006254.4(PRKCD):c.778A>C (p.Lys260Gln)
NM_006254.4(PRKCD):c.787+3G>A
NM_006254.4(PRKCD):c.788-3C>T
NM_006254.4(PRKCD):c.820G>A (p.Glu274Lys) rs1553668639
NM_006254.4(PRKCD):c.826G>T (p.Val276Leu) rs1553668642
NM_006254.4(PRKCD):c.88G>A (p.Val30Met) rs1703300399
NM_006254.4(PRKCD):c.892G>A (p.Ala298Thr) rs2107275432
NM_006254.4(PRKCD):c.896C>T (p.Ser299Phe) rs1703646229
NM_006254.4(PRKCD):c.902G>T (p.Arg301Ile) rs2107275476
NM_006254.4(PRKCD):c.932G>A (p.Gly311Glu) rs2107275603
NM_006254.4(PRKCD):c.940C>G (p.Gln314Glu) rs1553668823
NM_006254.4(PRKCD):c.998C>A (p.Thr333Asn) rs1703664468
NM_007315.4(STAT1):c.1038A>C (p.Arg346Ser) rs1693169265
NM_007315.4(STAT1):c.1052T>G (p.Leu351Trp) rs1559013693
NM_007315.4(STAT1):c.1053G>C (p.Leu351Phe) rs1064794955
NM_007315.4(STAT1):c.1067A>G (p.Tyr356Cys) rs2125043988
NM_007315.4(STAT1):c.1069A>G (p.Asn357Asp) rs2125043975
NM_007315.4(STAT1):c.1073T>C (p.Leu358Ser) rs2125043967
NM_007315.4(STAT1):c.1078G>T (p.Val360Phe) rs2125043964
NM_007315.4(STAT1):c.1106A>G (p.Asn369Ser)
NM_007315.4(STAT1):c.1112_1114del (p.Arg371del)
NM_007315.4(STAT1):c.1124A>G (p.Lys375Arg)
NM_007315.4(STAT1):c.1127+13C>G
NM_007315.4(STAT1):c.1127+3A>G
NM_007315.4(STAT1):c.1147T>G (p.Leu383Val)
NM_007315.4(STAT1):c.1151G>T (p.Gly384Val)
NM_007315.4(STAT1):c.1159A>C (p.Thr387Pro)
NM_007315.4(STAT1):c.1168A>G (p.Met390Val) rs1574648919
NM_007315.4(STAT1):c.1169T>C (p.Met390Thr) rs1553494436
NM_007315.4(STAT1):c.1170G>A (p.Met390Ile)
NM_007315.4(STAT1):c.1202C>A (p.Ala401Glu) rs1692872913
NM_007315.4(STAT1):c.1221+6G>T rs1692870587
NM_007315.4(STAT1):c.1221+9A>G rs2125034622
NM_007315.4(STAT1):c.1224A>G (p.Gln408=)
NM_007315.4(STAT1):c.1251C>T (p.Thr417=)
NM_007315.4(STAT1):c.1256C>G (p.Thr419Arg) rs1347113886
NM_007315.4(STAT1):c.1263+4A>G rs1692742284
NM_007315.4(STAT1):c.1295C>T (p.Ser432Phe)
NM_007315.4(STAT1):c.1297C>G (p.Leu433Val) rs1181214715
NM_007315.4(STAT1):c.132G>T (p.Glu44Asp)
NM_007315.4(STAT1):c.1333G>A (p.Val445Ile) rs753695026
NM_007315.4(STAT1):c.1347+3A>G rs1574645914
NM_007315.4(STAT1):c.1350_1351delinsTT (p.Thr451Ser)
NM_007315.4(STAT1):c.1363G>T (p.Val455Phe)
NM_007315.4(STAT1):c.1378A>G (p.Asn460Asp)
NM_007315.4(STAT1):c.1380C>T (p.Asn460=)
NM_007315.4(STAT1):c.1386C>A (p.Ser462Arg)
NM_007315.4(STAT1):c.1422C>T (p.Tyr474=)
NM_007315.4(STAT1):c.143A>G (p.Asn48Ser)
NM_007315.4(STAT1):c.1469C>T (p.Pro490Leu) rs2125018475
NM_007315.4(STAT1):c.1498G>A (p.Glu500Lys)
NM_007315.4(STAT1):c.1501G>C (p.Val501Leu)
NM_007315.4(STAT1):c.1508G>A (p.Ser503Asn)
NM_007315.4(STAT1):c.1540C>T (p.Leu514Phe) rs2125018329
NM_007315.4(STAT1):c.1594A>G (p.Ser532Gly) rs2125013089
NM_007315.4(STAT1):c.1613C>T (p.Pro538Leu)
NM_007315.4(STAT1):c.1629T>G (p.Cys543Trp) rs1574642464
NM_007315.4(STAT1):c.1632+6del rs759601214
NM_007315.4(STAT1):c.1643A>G (p.Asn548Ser)
NM_007315.4(STAT1):c.1657C>T (p.Pro553Ser)
NM_007315.4(STAT1):c.1675G>C (p.Glu559Gln) rs1574641583
NM_007315.4(STAT1):c.1687G>C (p.Glu563Gln) rs2125010416
NM_007315.4(STAT1):c.1688A>G (p.Glu563Gly)
NM_007315.4(STAT1):c.1688A>T (p.Glu563Val)
NM_007315.4(STAT1):c.16G>A (p.Glu6Lys)
NM_007315.4(STAT1):c.1727+6G>C
NM_007315.4(STAT1):c.1756C>G (p.Arg586Gly)
NM_007315.4(STAT1):c.1757G>A (p.Arg586Gln) rs144788879
NM_007315.4(STAT1):c.1765G>A (p.Ala589Thr) rs745491762
NM_007315.4(STAT1):c.1765G>C (p.Ala589Pro)
NM_007315.4(STAT1):c.1775A>C (p.Lys592Thr)
NM_007315.4(STAT1):c.1787C>T (p.Pro596Leu)
NM_007315.4(STAT1):c.178C>T (p.Leu60Phe) rs2125100882
NM_007315.4(STAT1):c.1822C>T (p.Arg608Trp)
NM_007315.4(STAT1):c.1849G>A (p.Val617Met)
NM_007315.4(STAT1):c.1867G>A (p.Gly623Arg)
NM_007315.4(STAT1):c.1874-3T>C rs2125000778
NM_007315.4(STAT1):c.1886A>T (p.His629Leu) rs1691957289
NM_007315.4(STAT1):c.193G>A (p.Asp65Asn) rs1574672739
NM_007315.4(STAT1):c.1942A>G (p.Ile648Val)
NM_007315.4(STAT1):c.1949A>G (p.Asn650Ser) rs776429557
NM_007315.4(STAT1):c.194A>G (p.Asp65Gly)
NM_007315.4(STAT1):c.1974T>G (p.Asn658Lys)
NM_007315.4(STAT1):c.1976T>C (p.Ile659Thr) rs2125000384
NM_007315.4(STAT1):c.1989_1997dup (p.Leu667_Tyr668insLysTyrLeu)
NM_007315.4(STAT1):c.2009A>G (p.Asn670Ser) rs2125000268
NM_007315.4(STAT1):c.200A>G (p.Gln67Arg)
NM_007315.4(STAT1):c.2011A>G (p.Ile671Val)
NM_007315.4(STAT1):c.2016C>A (p.Asp672Glu)
NM_007315.4(STAT1):c.203A>G (p.Tyr68Cys)
NM_007315.4(STAT1):c.2059+6_2059+7del rs1691942843
NM_007315.4(STAT1):c.2059G>C (p.Ala687Pro)
NM_007315.4(STAT1):c.208C>G (p.Arg70Gly)
NM_007315.4(STAT1):c.208C>T (p.Arg70Cys)
NM_007315.4(STAT1):c.2101T>A (p.Tyr701Asn)
NM_007315.4(STAT1):c.2134G>A (p.Val712Ile)
NM_007315.4(STAT1):c.2201_2208del (p.Val734fs) rs1691780324
NM_007315.4(STAT1):c.2230G>A (p.Asp744Asn)
NM_007315.4(STAT1):c.2236A>G (p.Met746Val)
NM_007315.4(STAT1):c.2238+6T>C
NM_007315.4(STAT1):c.2239-16T>G
NM_007315.4(STAT1):c.2249_*2del (p.Val750fs)
NM_007315.4(STAT1):c.246C>A (p.Asn82Lys) rs1694920831
NM_007315.4(STAT1):c.274-6A>G rs2125097234
NM_007315.4(STAT1):c.295A>G (p.Ile99Val)
NM_007315.4(STAT1):c.355G>A (p.Ala119Thr)
NM_007315.4(STAT1):c.358C>G (p.Gln120Glu) rs1694803399
NM_007315.4(STAT1):c.373-10C>G
NM_007315.4(STAT1):c.389T>C (p.Ile130Thr) rs1694239561
NM_007315.4(STAT1):c.38A>G (p.Lys13Arg)
NM_007315.4(STAT1):c.400G>T (p.Val134Leu)
NM_007315.4(STAT1):c.434A>G (p.Lys145Arg) rs2125079464
NM_007315.4(STAT1):c.463-6T>G
NM_007315.4(STAT1):c.463T>C (p.Cys155Arg)
NM_007315.4(STAT1):c.467T>C (p.Ile156Thr)
NM_007315.4(STAT1):c.489_497del (p.Glu164_Leu166del) rs2125075101
NM_007315.4(STAT1):c.496_504del (p.Leu166_Asp168del) rs2125075085
NM_007315.4(STAT1):c.506A>T (p.Glu169Val)
NM_007315.4(STAT1):c.533A>G (p.Gln178Arg) rs2125074995
NM_007315.4(STAT1):c.595C>T (p.Leu199Phe) rs1693998248
NM_007315.4(STAT1):c.596T>C (p.Leu199Pro) rs1693998068
NM_007315.4(STAT1):c.623A>G (p.Asn208Ser) rs1693996687
NM_007315.4(STAT1):c.629G>A (p.Arg210Lys) rs1693996119
NM_007315.4(STAT1):c.634G>C (p.Glu212Gln)
NM_007315.4(STAT1):c.68A>T (p.Asp23Val) rs1694998227
NM_007315.4(STAT1):c.736G>A (p.Ala246Thr)
NM_007315.4(STAT1):c.758A>G (p.Asn253Ser)
NM_007315.4(STAT1):c.773A>T (p.Gln258Leu)
NM_007315.4(STAT1):c.786G>T (p.Trp262Cys)
NM_007315.4(STAT1):c.850G>A (p.Glu284Lys) rs1574657750
NM_007315.4(STAT1):c.856A>G (p.Lys286Glu) rs1693752377
NM_007315.4(STAT1):c.868G>A (p.Glu290Lys)
NM_007315.4(STAT1):c.871C>T (p.His291Tyr) rs2125062260
NM_007315.4(STAT1):c.877C>A (p.Pro293Thr)
NM_007315.4(STAT1):c.877C>G (p.Pro293Ala) rs2125062189
NM_007315.4(STAT1):c.877_891del (p.Pro293_Asn297del) rs1693749076
NM_007315.4(STAT1):c.878C>T (p.Pro293Leu)
NM_007315.4(STAT1):c.88A>G (p.Ile30Val)
NM_007315.4(STAT1):c.913A>T (p.Thr305Ser)
NM_007315.4(STAT1):c.934C>T (p.Leu312Phe) rs1574657656
NM_007315.4(STAT1):c.937A>G (p.Ile313Val)
NM_007315.4(STAT1):c.945-5T>G rs1574653475
NM_007315.4(STAT1):c.955G>A (p.Val319Met) rs1693315914
NM_007315.4(STAT1):c.976C>T (p.Pro326Ser) rs1693314120
NM_007315.4(STAT1):c.989A>G (p.Gln330Arg) rs1693312947
NM_014009.4(FOXP3):c.*878A>G rs2066021673
NM_014009.4(FOXP3):c.-23+3G>A
NM_014009.4(FOXP3):c.-23+4A>G rs1216773491
NM_014009.4(FOXP3):c.1020C>G (p.Phe340Leu)
NM_014009.4(FOXP3):c.1027G>A (p.Ala343Thr) rs782649847
NM_014009.4(FOXP3):c.1031C>A (p.Thr344Lys) rs782539207
NM_014009.4(FOXP3):c.1031C>T (p.Thr344Met)
NM_014009.4(FOXP3):c.1036A>G (p.Ile346Val) rs1557115789
NM_014009.4(FOXP3):c.1044G>T (p.Trp348Cys) rs2066044558
NM_014009.4(FOXP3):c.1091A>G (p.Tyr364Cys)
NM_014009.4(FOXP3):c.1129C>G (p.His377Asp) rs1557115591
NM_014009.4(FOXP3):c.1147-12G>A rs370285865
NM_014009.4(FOXP3):c.1247A>T (p.Lys416Ile) rs1569529568
NM_014009.4(FOXP3):c.1249C>T (p.Arg417Trp)
NM_014009.4(FOXP3):c.1250G>A (p.Arg417Gln)
NM_014009.4(FOXP3):c.1252A>G (p.Ser418Gly)
NM_014009.4(FOXP3):c.1253G>A (p.Ser418Asn) rs1317916668
NM_014009.4(FOXP3):c.1253G>C (p.Ser418Thr)
NM_014009.4(FOXP3):c.1257G>C (p.Gln419His) rs2066029760
NM_014009.4(FOXP3):c.1280C>G (p.Pro427Arg) rs2066029479
NM_014009.4(FOXP3):c.14G>T (p.Arg5Met) rs2147949758
NM_014009.4(FOXP3):c.166G>A (p.Ala56Thr)
NM_014009.4(FOXP3):c.188C>T (p.Pro63Leu)
NM_014009.4(FOXP3):c.210+5G>A
NM_014009.4(FOXP3):c.211C>G (p.Leu71Val)
NM_014009.4(FOXP3):c.223C>T (p.Pro75Ser)
NM_014009.4(FOXP3):c.229G>C (p.Val77Leu)
NM_014009.4(FOXP3):c.241C>T (p.Pro81Ser)
NM_014009.4(FOXP3):c.248G>A (p.Gly83Glu)
NM_014009.4(FOXP3):c.292G>A (p.Asp98Asn) rs2147949106
NM_014009.4(FOXP3):c.337G>A (p.Ala113Thr) rs1398753395
NM_014009.4(FOXP3):c.337G>T (p.Ala113Ser) rs1398753395
NM_014009.4(FOXP3):c.341G>A (p.Arg114Gln)
NM_014009.4(FOXP3):c.374G>A (p.Ser125Asn)
NM_014009.4(FOXP3):c.407C>T (p.Thr136Ile)
NM_014009.4(FOXP3):c.409G>A (p.Ala137Thr) rs1057524899
NM_014009.4(FOXP3):c.418G>C (p.Val140Leu)
NM_014009.4(FOXP3):c.451C>T (p.Pro151Ser) rs1557116520
NM_014009.4(FOXP3):c.473T>A (p.Leu158Gln)
NM_014009.4(FOXP3):c.482T>C (p.Val161Ala)
NM_014009.4(FOXP3):c.492G>C (p.Glu164Asp) rs2147948631
NM_014009.4(FOXP3):c.494C>T (p.Pro165Leu) rs1279942582
NM_014009.4(FOXP3):c.499C>A (p.Leu167Met)
NM_014009.4(FOXP3):c.506G>A (p.Cys169Tyr) rs1284218417
NM_014009.4(FOXP3):c.521C>G (p.Pro174Arg)
NM_014009.4(FOXP3):c.524G>A (p.Ser175Asn)
NM_014009.4(FOXP3):c.542+6T>C
NM_014009.4(FOXP3):c.542G>T (p.Ser181Ile) rs1602686006
NM_014009.4(FOXP3):c.607G>A (p.Gly203Arg)
NM_014009.4(FOXP3):c.616_618del (p.Lys206del) rs2066076242
NM_014009.4(FOXP3):c.619G>A (p.Val207Ile)
NM_014009.4(FOXP3):c.61G>C (p.Gly21Arg)
NM_014009.4(FOXP3):c.631C>T (p.Pro211Ser) rs374109896
NM_014009.4(FOXP3):c.637G>T (p.Asp213Tyr) rs2147948474
NM_014009.4(FOXP3):c.648-3T>C
NM_014009.4(FOXP3):c.650A>G (p.His217Arg) rs1045776635
NM_014009.4(FOXP3):c.659C>A (p.Ala220Glu)
NM_014009.4(FOXP3):c.680A>C (p.Lys227Thr) rs2147947523
NM_014009.4(FOXP3):c.727G>A (p.Glu243Lys)
NM_014009.4(FOXP3):c.733C>G (p.Gln245Glu) rs2147947487
NM_014009.4(FOXP3):c.736_737inv (p.Leu246Arg)
NM_014009.4(FOXP3):c.754A>G (p.Lys252Glu) rs2147947305
NM_014009.4(FOXP3):c.761G>A (p.Ser254Asn)
NM_014009.4(FOXP3):c.799A>C (p.Thr267Pro)
NM_014009.4(FOXP3):c.80G>A (p.Arg27Lys) rs2147949688
NM_014009.4(FOXP3):c.811T>C (p.Ser271Pro)
NM_014009.4(FOXP3):c.816G>A (p.Val272=)
NM_014009.4(FOXP3):c.847G>T (p.Val283Leu)
NM_014009.4(FOXP3):c.851C>T (p.Ala284Val)
NM_014009.4(FOXP3):c.869C>T (p.Pro290Leu)
NM_014009.4(FOXP3):c.883T>C (p.Trp295Arg)
NM_014009.4(FOXP3):c.890G>C (p.Gly297Ala) rs2066051349
NM_014009.4(FOXP3):c.898G>A (p.Glu300Lys) rs2147946014
NM_014009.4(FOXP3):c.928A>G (p.Arg310Gly) rs782635427
NM_014009.4(FOXP3):c.938G>T (p.Trp313Leu)
NM_014009.4(FOXP3):c.940G>A (p.Gly314Ser)
NM_014009.4(FOXP3):c.941G>A (p.Gly314Asp)
NM_014009.4(FOXP3):c.94G>T (p.Ala32Ser)
NM_014009.4(FOXP3):c.95C>T (p.Ala32Val)
NM_014009.4(FOXP3):c.963C>G (p.Phe321Leu) rs143869281
NM_014009.4(FOXP3):c.967+3A>T rs2066050512
NM_014009.4(FOXP3):c.967G>A (p.Glu323Lys) rs2066050534
NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu) rs122467173
NM_014009.4(FOXP3):c.970T>G (p.Phe324Val) rs122467173
NM_014009.4(FOXP3):c.992T>C (p.Phe331Ser)
NM_014009.4(FOXP3):c.998T>A (p.Phe333Tyr) rs2147945481
NM_014009.4(FOXP3):c.9C>G (p.Asn3Lys)
NM_032977.4(CASP10):c.1015C>G (p.Gln339Glu) rs111775921
NM_032977.4(CASP10):c.1022G>A (p.Cys341Tyr)
NM_032977.4(CASP10):c.1031C>T (p.Ala344Val) rs1945312703
NM_032977.4(CASP10):c.1039G>A (p.Asp347Asn)
NM_032977.4(CASP10):c.103G>A (p.Asp35Asn)
NM_032977.4(CASP10):c.1094A>C (p.Tyr365Ser)
NM_032977.4(CASP10):c.1121T>A (p.Ile374Asn) rs2126047984
NM_032977.4(CASP10):c.1124G>A (p.Arg375Gln) rs375798142
NM_032977.4(CASP10):c.1133T>C (p.Met378Thr)
NM_032977.4(CASP10):c.1139A>G (p.His380Arg)
NM_032977.4(CASP10):c.1148C>A (p.Ala383Asp) rs1181337952
NM_032977.4(CASP10):c.1153C>T (p.Gln385Ter) rs2126048039
NM_032977.4(CASP10):c.1198G>A (p.Ala400Thr)
NM_032977.4(CASP10):c.1198G>C (p.Ala400Pro) rs762404236
NM_032977.4(CASP10):c.1199C>T (p.Ala400Val)
NM_032977.4(CASP10):c.1207G>C (p.Gly403Arg) rs916343393
NM_032977.4(CASP10):c.1223C>T (p.Pro408Leu)
NM_032977.4(CASP10):c.1226C>A (p.Ser409Tyr) rs1409279830
NM_032977.4(CASP10):c.1226C>T (p.Ser409Phe)
NM_032977.4(CASP10):c.1271C>T (p.Thr424Ile) rs1559309649
NM_032977.4(CASP10):c.1282G>C (p.Asp428His) rs1945323616
NM_032977.4(CASP10):c.1285A>G (p.Ser429Gly) rs1945323812
NM_032977.4(CASP10):c.130A>T (p.Ile44Leu) rs766784091
NM_032977.4(CASP10):c.1321G>A (p.Ala441Thr) rs760580885
NM_032977.4(CASP10):c.1342T>A (p.Ser448Thr)
NM_032977.4(CASP10):c.1349G>A (p.Arg450Gln)
NM_032977.4(CASP10):c.134G>A (p.Gly45Glu)
NM_032977.4(CASP10):c.1355T>C (p.Val452Ala) rs757598550
NM_032977.4(CASP10):c.136T>G (p.Leu46Val) rs1047225163
NM_032977.4(CASP10):c.1376T>G (p.Ile459Ser)
NM_032977.4(CASP10):c.1387T>A (p.Cys463Ser)
NM_032977.4(CASP10):c.13G>A (p.Gly5Ser)
NM_032977.4(CASP10):c.1402A>G (p.Lys468Glu)
NM_032977.4(CASP10):c.1409T>C (p.Val470Ala)
NM_032977.4(CASP10):c.1416-3C>A rs1945611761
NM_032977.4(CASP10):c.1418A>G (p.His473Arg) rs538186121
NM_032977.4(CASP10):c.1438C>T (p.Leu480Phe)
NM_032977.4(CASP10):c.1457A>T (p.Asp486Val) rs2126062063
NM_032977.4(CASP10):c.1460T>G (p.Val487Gly) rs1559314420
NM_032977.4(CASP10):c.1462A>G (p.Ser488Gly)
NM_032977.4(CASP10):c.1465C>T (p.Arg489Ter) rs746530401
NM_032977.4(CASP10):c.1501C>A (p.Pro501Thr)
NM_032977.4(CASP10):c.1530del (p.Lys510fs)
NM_032977.4(CASP10):c.1546C>G (p.Pro516Ala)
NM_032977.4(CASP10):c.176_177delinsGG (p.Ser59Trp) rs1559292275
NM_032977.4(CASP10):c.199G>T (p.Ala67Ser) rs773537509
NM_032977.4(CASP10):c.215G>C (p.Ser72Thr) rs2126005258
NM_032977.4(CASP10):c.244CTC[1] (p.Leu83del) rs749820662
NM_032977.4(CASP10):c.247C>G (p.Leu83Val) rs759913674
NM_032977.4(CASP10):c.247C>T (p.Leu83Phe)
NM_032977.4(CASP10):c.248T>C (p.Leu83Pro)
NM_032977.4(CASP10):c.250T>C (p.Tyr84His) rs2126005350
NM_032977.4(CASP10):c.251A>G (p.Tyr84Cys)
NM_032977.4(CASP10):c.260G>A (p.Arg87Gln)
NM_032977.4(CASP10):c.278A>C (p.Gln93Pro)
NM_032977.4(CASP10):c.284T>C (p.Leu95Pro) rs1944405008
NM_032977.4(CASP10):c.29C>G (p.Ser10Cys) rs1188335683
NM_032977.4(CASP10):c.303A>T (p.Glu101Asp)
NM_032977.4(CASP10):c.314T>A (p.Leu105Gln)
NM_032977.4(CASP10):c.326G>C (p.Arg109Pro)
NM_032977.4(CASP10):c.347+6G>A
NM_032977.4(CASP10):c.361G>A (p.Glu121Lys) rs565907504
NM_032977.4(CASP10):c.365T>C (p.Leu122Pro) rs1944463643
NM_032977.4(CASP10):c.376A>G (p.Ile126Val) rs1391900340
NM_032977.4(CASP10):c.385G>A (p.Glu129Lys) rs2126008482
NM_032977.4(CASP10):c.387G>C (p.Glu129Asp)
NM_032977.4(CASP10):c.387G>T (p.Glu129Asp)
NM_032977.4(CASP10):c.387_388del (p.Asn130fs)
NM_032977.4(CASP10):c.389_393delinsC (p.Asn130fs) rs1944464774
NM_032977.4(CASP10):c.413T>C (p.Leu138Pro) rs1340599595
NM_032977.4(CASP10):c.416A>C (p.Lys139Thr)
NM_032977.4(CASP10):c.419A>C (p.Asp140Ala)
NM_032977.4(CASP10):c.441+19A>G
NM_032977.4(CASP10):c.441G>A (p.Met147Ile)
NM_032977.4(CASP10):c.448C>A (p.Leu150Ile)
NM_032977.4(CASP10):c.448C>G (p.Leu150Val)
NM_032977.4(CASP10):c.461C>A (p.Ala154Glu)
NM_032977.4(CASP10):c.471G>T (p.Glu157Asp)
NM_032977.4(CASP10):c.477del (p.Gly160fs) rs766461320
NM_032977.4(CASP10):c.47G>A (p.Cys16Tyr)
NM_032977.4(CASP10):c.487G>T (p.Asp163Tyr)
NM_032977.4(CASP10):c.499C>G (p.Leu167Val)
NM_032977.4(CASP10):c.506G>T (p.Cys169Phe)
NM_032977.4(CASP10):c.522C>G (p.Cys174Trp)
NM_032977.4(CASP10):c.529G>A (p.Val177Ile)
NM_032977.4(CASP10):c.548G>T (p.Arg183Ile) rs753989167
NM_032977.4(CASP10):c.551del (p.Asn184fs)
NM_032977.4(CASP10):c.554T>C (p.Ile185Thr) rs753049035
NM_032977.4(CASP10):c.576A>G (p.Lys192=)
NM_032977.4(CASP10):c.577+5G>T
NM_032977.4(CASP10):c.578-3C>T
NM_032977.4(CASP10):c.57C>G (p.Ser19Arg)
NM_032977.4(CASP10):c.584A>G (p.Gln195Arg)
NM_032977.4(CASP10):c.587_588del (p.Ile196fs)
NM_032977.4(CASP10):c.590T>C (p.Val197Ala)
NM_032977.4(CASP10):c.593C>A (p.Thr198Lys)
NM_032977.4(CASP10):c.601G>T (p.Val201Leu) rs755710677
NM_032977.4(CASP10):c.607A>G (p.Lys203Glu)
NM_032977.4(CASP10):c.610G>C (p.Glu204Gln)
NM_032977.4(CASP10):c.620C>G (p.Ser207Trp)
NM_032977.4(CASP10):c.625C>A (p.Gln209Lys)
NM_032977.4(CASP10):c.629G>C (p.Gly210Ala)
NM_032977.4(CASP10):c.62G>A (p.Arg21His) rs140813639
NM_032977.4(CASP10):c.641T>G (p.Leu214Arg)
NM_032977.4(CASP10):c.647C>G (p.Ser216Cys)
NM_032977.4(CASP10):c.657T>A (p.Asp219Glu)
NM_032977.4(CASP10):c.682C>T (p.Pro228Ser)
NM_032977.4(CASP10):c.684+4G>A
NM_032977.4(CASP10):c.684+4G>T
NM_032977.4(CASP10):c.685-2A>G rs966440916
NM_032977.4(CASP10):c.685C>T (p.Gln229Ter) rs2126038202
NM_032977.4(CASP10):c.686A>T (p.Gln229Leu)
NM_032977.4(CASP10):c.701A>T (p.Asn234Ile)
NM_032977.4(CASP10):c.721+3A>G
NM_032977.4(CASP10):c.722-11T>G
NM_032977.4(CASP10):c.722-3T>C
NM_032977.4(CASP10):c.740G>T (p.Gly247Val)
NM_032977.4(CASP10):c.743C>T (p.Ala248Val)
NM_032977.4(CASP10):c.745C>T (p.Pro249Ser)
NM_032977.4(CASP10):c.748del (p.Ser250fs)
NM_032977.4(CASP10):c.752T>C (p.Leu251Pro)
NM_032977.4(CASP10):c.760A>G (p.Arg254Gly) rs781669542
NM_032977.4(CASP10):c.765del (p.Met256fs)
NM_032977.4(CASP10):c.76A>G (p.Ile26Val)
NM_032977.4(CASP10):c.788C>G (p.Thr263Ser)
NM_032977.4(CASP10):c.791T>C (p.Leu264Pro)
NM_032977.4(CASP10):c.803C>A (p.Thr268Asn) rs776737353
NM_032977.4(CASP10):c.809C>A (p.Thr270Lys) rs1945189904
NM_032977.4(CASP10):c.813+3C>T
NM_032977.4(CASP10):c.814-6T>G rs762072082
NM_032977.4(CASP10):c.82G>C (p.Asp28His) rs774542679
NM_032977.4(CASP10):c.839G>A (p.Arg280Gln) rs750581097
NM_032977.4(CASP10):c.844C>A (p.His282Asn) rs1945269105
NM_032977.4(CASP10):c.86C>A (p.Ser29Ter)
NM_032977.4(CASP10):c.875A>T (p.His292Leu) rs1452409142
NM_032977.4(CASP10):c.895G>C (p.Asp299His)
NM_032977.4(CASP10):c.901C>G (p.Gln301Glu)
NM_032977.4(CASP10):c.920C>A (p.Ala307Asp) rs1291372845
NM_032977.4(CASP10):c.923-4A>G rs1559308787
NM_032977.4(CASP10):c.924G>C (p.Glu308Asp)
NM_032977.4(CASP10):c.932G>A (p.Ser311Asn)
NM_032977.4(CASP10):c.974A>G (p.Asn325Ser) rs764487945
NM_032977.4(CASP10):c.989T>C (p.Val330Ala)
NM_032977.4(CASP10):c.989del (p.Val330fs) rs2126047727
NM_033629.6(TREX1):c.-11_2del (p.Met1fs)
NM_033629.6(TREX1):c.10C>A (p.Gln4Lys)
NM_033629.6(TREX1):c.113C>T (p.Ala38Val) rs2040326850
NM_033629.6(TREX1):c.126T>G (p.Cys42Trp)
NM_033629.6(TREX1):c.127G>A (p.Ala43Thr) rs780414238
NM_033629.6(TREX1):c.127G>T (p.Ala43Ser) rs780414238
NM_033629.6(TREX1):c.139C>A (p.Pro47Thr) rs751831423
NM_033629.6(TREX1):c.139C>T (p.Pro47Ser)
NM_033629.6(TREX1):c.140C>A (p.Pro47His)
NM_033629.6(TREX1):c.142C>T (p.Pro48Ser)
NM_033629.6(TREX1):c.142_144del (p.Pro48del) rs748914604
NM_033629.6(TREX1):c.143C>G (p.Pro48Arg)
NM_033629.6(TREX1):c.143C>T (p.Pro48Leu) rs2040328677
NM_033629.6(TREX1):c.14C>A (p.Ala5Asp)
NM_033629.6(TREX1):c.152A>C (p.Gln51Pro) rs2107256110
NM_033629.6(TREX1):c.152A>G (p.Gln51Arg)
NM_033629.6(TREX1):c.173C>T (p.Pro58Leu)
NM_033629.6(TREX1):c.178C>T (p.Pro60Ser)
NM_033629.6(TREX1):c.182C>G (p.Pro61Arg) rs777034646
NM_033629.6(TREX1):c.182C>T (p.Pro61Leu) rs777034646
NM_033629.6(TREX1):c.184C>G (p.Arg62Gly)
NM_033629.6(TREX1):c.184C>T (p.Arg62Cys) rs532286717
NM_033629.6(TREX1):c.185G>A (p.Arg62His) rs547752029
NM_033629.6(TREX1):c.185G>T (p.Arg62Leu) rs547752029
NM_033629.6(TREX1):c.187G>A (p.Val63Met)
NM_033629.6(TREX1):c.191T>C (p.Val64Ala) rs763056226
NM_033629.6(TREX1):c.194A>G (p.Asp65Gly)
NM_033629.6(TREX1):c.206T>C (p.Leu69Pro) rs2107256717
NM_033629.6(TREX1):c.209G>C (p.Cys70Ser)
NM_033629.6(TREX1):c.20C>G (p.Pro7Arg)
NM_033629.6(TREX1):c.224A>G (p.Lys75Arg)
NM_033629.6(TREX1):c.229T>C (p.Cys77Arg)
NM_033629.6(TREX1):c.22C>G (p.Pro8Ala)
NM_033629.6(TREX1):c.242C>T (p.Ala81Val)
NM_033629.6(TREX1):c.246C>A (p.Ser82Arg)
NM_033629.6(TREX1):c.247G>C (p.Glu83Gln)
NM_033629.6(TREX1):c.251T>G (p.Ile84Ser) rs748535974
NM_033629.6(TREX1):c.259C>G (p.Leu87Val)
NM_033629.6(TREX1):c.260T>C (p.Leu87Pro)
NM_033629.6(TREX1):c.263G>T (p.Ser88Ile)
NM_033629.6(TREX1):c.26G>A (p.Gly9Glu) rs2040321005
NM_033629.6(TREX1):c.271G>C (p.Val91Leu)
NM_033629.6(TREX1):c.277G>A (p.Ala93Thr)
NM_033629.6(TREX1):c.284A>C (p.His95Pro)
NM_033629.6(TREX1):c.287G>C (p.Gly96Ala)
NM_033629.6(TREX1):c.289C>T (p.Arg97Cys)
NM_033629.6(TREX1):c.294A>C (p.Gln98His)
NM_033629.6(TREX1):c.295T>C (p.Cys99Arg)
NM_033629.6(TREX1):c.298T>C (p.Phe100Leu)
NM_033629.6(TREX1):c.2T>C (p.Met1Thr) rs1179208432
NM_033629.6(TREX1):c.300T>A (p.Phe100Leu) rs2107257691
NM_033629.6(TREX1):c.302A>G (p.Asp101Gly)
NM_033629.6(TREX1):c.314C>T (p.Ala105Val)
NM_033629.6(TREX1):c.318C>T (p.Asn106=)
NM_033629.6(TREX1):c.329C>G (p.Ala110Gly)
NM_033629.6(TREX1):c.32T>C (p.Met11Thr)
NM_033629.6(TREX1):c.337C>G (p.Arg113Gly) rs759594113
NM_033629.6(TREX1):c.345G>T (p.Gln115His)
NM_033629.6(TREX1):c.35A>G (p.Gln12Arg) rs780467272
NM_033629.6(TREX1):c.374A>G (p.Asn125Ser) rs757863487
NM_033629.6(TREX1):c.380A>T (p.Asp127Val)
NM_033629.6(TREX1):c.382_390del (p.Arg128_Asp130del)
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) rs781051771
NM_033629.6(TREX1):c.391T>A (p.Phe131Ile)
NM_033629.6(TREX1):c.391T>C (p.Phe131Leu)
NM_033629.6(TREX1):c.391T>G (p.Phe131Val) rs1064796645
NM_033629.6(TREX1):c.400C>A (p.Leu134Ile)
NM_033629.6(TREX1):c.403C>G (p.Gln135Glu) rs746384382
NM_033629.6(TREX1):c.40C>T (p.Leu14Phe)
NM_033629.6(TREX1):c.410A>C (p.Glu137Ala)
NM_033629.6(TREX1):c.412C>G (p.Leu138Val) rs2040349486
NM_033629.6(TREX1):c.419T>C (p.Met140Thr) rs2107259076
NM_033629.6(TREX1):c.425G>C (p.Gly142Ala)
NM_033629.6(TREX1):c.430A>T (p.Thr144Ser) rs2040351031
NM_033629.6(TREX1):c.434G>A (p.Ser145Asn) rs2040351297
NM_033629.6(TREX1):c.43_45dup (p.Ile15_Phe16insIle) rs2040322179
NM_033629.6(TREX1):c.440T>C (p.Leu147Pro)
NM_033629.6(TREX1):c.446G>C (p.Gly149Ala)
NM_033629.6(TREX1):c.448G>A (p.Ala150Thr)
NM_033629.6(TREX1):c.453C>G (p.Phe151Leu)
NM_033629.6(TREX1):c.463A>G (p.Ser155Gly) rs776885477
NM_033629.6(TREX1):c.466A>G (p.Ile156Val)
NM_033629.6(TREX1):c.467_469dup (p.Ile156_Thr157insIle) rs1272053329
NM_033629.6(TREX1):c.468C>G (p.Ile156Met)
NM_033629.6(TREX1):c.469A>G (p.Thr157Ala)
NM_033629.6(TREX1):c.470C>G (p.Thr157Ser) rs1210588757
NM_033629.6(TREX1):c.478A>C (p.Lys160Gln)
NM_033629.6(TREX1):c.491G>A (p.Arg164Gln) rs143885312
NM_033629.6(TREX1):c.491G>C (p.Arg164Pro) rs143885312
NM_033629.6(TREX1):c.491G>T (p.Arg164Leu)
NM_033629.6(TREX1):c.494C>A (p.Ala165Glu) rs2040354615
NM_033629.6(TREX1):c.497G>C (p.Ser166Thr) rs1177028457
NM_033629.6(TREX1):c.502C>T (p.Pro168Ser)
NM_033629.6(TREX1):c.503C>T (p.Pro168Leu)
NM_033629.6(TREX1):c.505T>C (p.Ser169Pro)
NM_033629.6(TREX1):c.508G>A (p.Glu170Lys)
NM_033629.6(TREX1):c.509A>G (p.Glu170Gly) rs2107260081
NM_033629.6(TREX1):c.514G>A (p.Gly172Ser)
NM_033629.6(TREX1):c.518C>T (p.Pro173Leu)
NM_033629.6(TREX1):c.521G>A (p.Arg174Lys)
NM_033629.6(TREX1):c.524_526dup (p.Lys175_Ser176insLys)
NM_033629.6(TREX1):c.526A>G (p.Ser176Gly) rs2107260408
NM_033629.6(TREX1):c.527G>T (p.Ser176Ile) rs1464355841
NM_033629.6(TREX1):c.531_548del (p.Ser178_Tyr183del)
NM_033629.6(TREX1):c.548A>G (p.Tyr183Cys)
NM_033629.6(TREX1):c.554G>A (p.Arg185His) rs767157848
NM_033629.6(TREX1):c.55A>C (p.Met19Leu) rs2107255139
NM_033629.6(TREX1):c.55A>G (p.Met19Val)
NM_033629.6(TREX1):c.56T>C (p.Met19Thr)
NM_033629.6(TREX1):c.574C>T (p.Pro192Ser)
NM_033629.6(TREX1):c.578A>G (p.Asp193Gly) rs1575293494
NM_033629.6(TREX1):c.589G>A (p.Ala197Thr)
NM_033629.6(TREX1):c.592G>A (p.Glu198Lys) rs1416519719
NM_033629.6(TREX1):c.607G>A (p.Ala203Thr) rs2107261840
NM_033629.6(TREX1):c.608C>T (p.Ala203Val) rs2107261898
NM_033629.6(TREX1):c.616A>G (p.Ser206Gly)
NM_033629.6(TREX1):c.617G>A (p.Ser206Asn)
NM_033629.6(TREX1):c.621C>G (p.Ile207Met)
NM_033629.6(TREX1):c.623G>A (p.Cys208Tyr)
NM_033629.6(TREX1):c.627G>C (p.Gln209His) rs748970378
NM_033629.6(TREX1):c.632G>A (p.Arg211Lys)
NM_033629.6(TREX1):c.633A>C (p.Arg211Ser) rs1433877282
NM_033629.6(TREX1):c.638A>G (p.Gln213Arg)
NM_033629.6(TREX1):c.640G>A (p.Ala214Thr) rs1575293697
NM_033629.6(TREX1):c.650G>A (p.Arg217Gln) rs775117062
NM_033629.6(TREX1):c.655G>T (p.Val219Leu)
NM_033629.6(TREX1):c.662C>T (p.Ala221Val)
NM_033629.6(TREX1):c.664C>A (p.His222Asn)
NM_033629.6(TREX1):c.666C>A (p.His222Gln)
NM_033629.6(TREX1):c.666C>G (p.His222Gln) rs1431098691
NM_033629.6(TREX1):c.676T>C (p.Phe226Leu)
NM_033629.6(TREX1):c.685A>G (p.Ile229Val)
NM_033629.6(TREX1):c.694A>G (p.Met232Val) rs2040371837
NM_033629.6(TREX1):c.703del (p.Val235fs)
NM_033629.6(TREX1):c.704T>G (p.Val235Gly) rs2107263775
NM_033629.6(TREX1):c.710_711insG (p.Ser238fs)
NM_033629.6(TREX1):c.733C>T (p.Pro245Ser)
NM_033629.6(TREX1):c.734C>G (p.Pro245Arg) rs1560113388
NM_033629.6(TREX1):c.735_737dup (p.Ser246_Ala247insSer)
NM_033629.6(TREX1):c.736T>C (p.Ser246Pro)
NM_033629.6(TREX1):c.739G>A (p.Ala247Thr) rs112741962
NM_033629.6(TREX1):c.746C>T (p.Thr249Ile) rs759962919
NM_033629.6(TREX1):c.749C>T (p.Thr250Ile) rs2040376821
NM_033629.6(TREX1):c.74C>T (p.Pro25Leu)
NM_033629.6(TREX1):c.752C>T (p.Thr251Ile)
NM_033629.6(TREX1):c.757C>G (p.His253Asp) rs1236695721
NM_033629.6(TREX1):c.757C>T (p.His253Tyr)
NM_033629.6(TREX1):c.758A>G (p.His253Arg)
NM_033629.6(TREX1):c.760C>A (p.Leu254Met)
NM_033629.6(TREX1):c.769A>G (p.Thr257Ala)
NM_033629.6(TREX1):c.770C>T (p.Thr257Ile) rs1447568260
NM_033629.6(TREX1):c.780_781del (p.Pro262fs)
NM_033629.6(TREX1):c.781A>G (p.Ser261Gly)
NM_033629.6(TREX1):c.787A>C (p.Ser263Arg)
NM_033629.6(TREX1):c.787A>G (p.Ser263Gly) rs2107264871
NM_033629.6(TREX1):c.788G>A (p.Ser263Asn)
NM_033629.6(TREX1):c.795_802dup (p.Arg268fs) rs2107264951
NM_033629.6(TREX1):c.799dup (p.Ser267fs) rs2107265081
NM_033629.6(TREX1):c.802del (p.Arg268fs) rs2107265153
NM_033629.6(TREX1):c.803G>A (p.Arg268Lys)
NM_033629.6(TREX1):c.805G>A (p.Gly269Ser)
NM_033629.6(TREX1):c.806G>A (p.Gly269Asp)
NM_033629.6(TREX1):c.806G>T (p.Gly269Val)
NM_033629.6(TREX1):c.815A>C (p.Asp272Ala)
NM_033629.6(TREX1):c.815A>T (p.Asp272Val)
NM_033629.6(TREX1):c.817C>G (p.Leu273Val) rs2040382167
NM_033629.6(TREX1):c.817C>T (p.Leu273Phe)
NM_033629.6(TREX1):c.830A>G (p.Lys277Arg)
NM_033629.6(TREX1):c.83A>G (p.Gln28Arg) rs1369567808
NM_033629.6(TREX1):c.84G>C (p.Gln28His)
NM_033629.6(TREX1):c.854A>T (p.Glu285Val) rs2040385549
NM_033629.6(TREX1):c.857G>A (p.Gly286Glu) rs2040386246
NM_033629.6(TREX1):c.858_867delinsTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTAT (p.Leu287_Ala289delinsGlyCysSerArgGlnAlaPheArgHisHisGlnAlaHisValTrpGlyHisSerLeuCysTer) rs2107266070
NM_033629.6(TREX1):c.88A>G (p.Lys30Glu)
NM_033629.6(TREX1):c.892A>T (p.Thr298Ser)
NM_033629.6(TREX1):c.895T>G (p.Leu299Val)
NM_033629.6(TREX1):c.899C>T (p.Ala300Val) rs1553820567
NM_033629.6(TREX1):c.901G>A (p.Val301Ile)
NM_033629.6(TREX1):c.902dup (p.Ala302fs)
NM_033629.6(TREX1):c.908C>T (p.Thr303Ile) rs765487310
NM_033629.6(TREX1):c.909_910del (p.Leu304fs) rs1315240244
NM_033629.6(TREX1):c.913_916del (p.Tyr305fs) rs778550314
NM_033629.6(TREX1):c.916G>A (p.Gly306Arg) rs2040391623
NM_033629.6(TREX1):c.916G>T (p.Gly306Ter) rs2040391623
NM_033629.6(TREX1):c.917G>C (p.Gly306Ala)
NM_033629.6(TREX1):c.91G>A (p.Val31Ile) rs1057321761
NM_033629.6(TREX1):c.934C>G (p.Pro312Ala) rs1265570241
NM_033629.6(TREX1):c.98A>T (p.Glu33Val)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.