ClinVar Miner

List of variants studied for Polyglandular autoimmune syndrome, type 1 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 1017
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HGVS dbSNP gnomAD frequency
NC_000021.9:g.44285777T>C rs751032 0.90117
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49415
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.18036
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_000383.4(AIRE):c.1203T>C (p.Pro401=) rs61737072 0.05045
NM_000383.4(AIRE):c.1096-9G>C rs113512196 0.01593
NM_000383.4(AIRE):c.652+14C>T rs41277546 0.01242
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615 0.01042
NM_000383.4(AIRE):c.1279-18C>T rs72650678 0.00839
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu) rs11910214 0.00580
NM_000383.4(AIRE):c.1401-11C>T rs371136111 0.00444
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046 0.00411
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061 0.00404
NM_000383.4(AIRE):c.1116G>A (p.Ser372=) rs61737006 0.00304
NM_000383.4(AIRE):c.1400+10C>T rs372277949 0.00304
NM_000383.4(AIRE):c.1507G>A (p.Asp503Asn) rs145370269 0.00241
NM_000383.4(AIRE):c.1296G>A (p.Ala432=) rs144359012 0.00222
NM_000383.4(AIRE):c.880-18G>A rs139659079 0.00213
NM_000383.4(AIRE):c.1199C>T (p.Pro400Leu) rs142366324 0.00212
NM_000383.4(AIRE):c.1566+8C>T rs72650680 0.00206
NM_000383.4(AIRE):c.1065C>T (p.Pro355=) rs201551372 0.00188
NM_000383.4(AIRE):c.63C>T (p.Ala21=) rs371796437 0.00176
NM_000383.4(AIRE):c.1567-5C>T rs192215705 0.00158
NM_000383.4(AIRE):c.1083C>T (p.Pro361=) rs201010030 0.00115
NM_000383.4(AIRE):c.510A>G (p.Ala170=) rs146992760 0.00113
NM_000383.4(AIRE):c.717C>T (p.Ser239=) rs149130190 0.00110
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000383.4(AIRE):c.789C>T (p.Gly263=) rs138066507 0.00099
NM_000383.4(AIRE):c.901G>A (p.Val301Met) rs150634562 0.00092
NM_000383.4(AIRE):c.1215G>A (p.Pro405=) rs72650676 0.00078
NM_000383.4(AIRE):c.447G>A (p.Arg149=) rs374704178 0.00069
NM_000383.4(AIRE):c.1118C>T (p.Ala373Val) rs79212994 0.00068
NM_000383.4(AIRE):c.1383C>T (p.Ala461=) rs147485628 0.00066
NM_000383.4(AIRE):c.348G>A (p.Pro116=) rs74162060 0.00066
NM_000383.4(AIRE):c.1503+16G>A rs565087801 0.00058
NM_000383.4(AIRE):c.1476C>T (p.Pro492=) rs72650679 0.00054
NM_000383.4(AIRE):c.1567-18C>T rs372108131 0.00047
NM_000383.4(AIRE):c.1437G>A (p.Val479=) rs181029582 0.00041
NM_000383.4(AIRE):c.1279-19G>A rs369136366 0.00039
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu) rs140196414 0.00036
NM_000383.4(AIRE):c.521G>A (p.Arg174His) rs145732243 0.00035
NM_000383.4(AIRE):c.457A>G (p.Ser153Gly) rs200377867 0.00032
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg) rs373993732 0.00031
NM_000383.4(AIRE):c.133-11C>A rs372109674 0.00029
NM_000383.4(AIRE):c.982C>T (p.Arg328Trp) rs74162063 0.00028
NM_000383.4(AIRE):c.996-7C>T rs568895777 0.00026
NM_000383.4(AIRE):c.307+13G>A rs371890744 0.00025
NM_000383.4(AIRE):c.507C>T (p.Ser169=) rs566659101 0.00025
NM_000383.4(AIRE):c.1344C>T (p.His448=) rs201131119 0.00024
NM_000383.4(AIRE):c.1483C>T (p.Leu495=) rs376909088 0.00024
NM_000383.4(AIRE):c.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_000383.4(AIRE):c.589G>A (p.Gly197Arg) rs148012328 0.00022
NM_000383.4(AIRE):c.912C>T (p.Asp304=) rs149769247 0.00022
NM_000383.4(AIRE):c.169C>G (p.Gln57Glu) rs200955183 0.00020
NM_000383.4(AIRE):c.996-18T>C rs78245838 0.00020
NM_000383.4(AIRE):c.538+7G>A rs575144370 0.00019
NM_000383.4(AIRE):c.1244A>G (p.His415Arg) rs149609996 0.00017
NM_000383.4(AIRE):c.538+6C>T rs371847563 0.00017
NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp) rs376901046 0.00016
NM_000383.4(AIRE):c.180C>T (p.His60=) rs201591958 0.00016
NM_000383.4(AIRE):c.748A>T (p.Ser250Cys) rs141480813 0.00016
NM_000383.4(AIRE):c.908G>A (p.Arg303Gln) rs139808903 0.00016
NM_000383.4(AIRE):c.1312G>A (p.Gly438Arg) rs553396434 0.00015
NM_000383.4(AIRE):c.594C>T (p.Asp198=) rs376083924 0.00015
NM_000383.4(AIRE):c.600G>A (p.Pro200=) rs754331960 0.00015
NM_000383.4(AIRE):c.936C>T (p.Asp312=) rs147889221 0.00015
NM_000383.4(AIRE):c.1095+11G>A rs541854967 0.00014
NM_000383.4(AIRE):c.1104G>A (p.Pro368=) rs377079396 0.00014
NM_000383.4(AIRE):c.1477G>A (p.Ala493Thr) rs561652010 0.00014
NM_000383.4(AIRE):c.1567-17G>A rs376402964 0.00014
NM_000383.4(AIRE):c.538G>A (p.Gly180Arg) rs200899780 0.00014
NM_000383.4(AIRE):c.880-7G>A rs141955483 0.00014
NM_000383.4(AIRE):c.560C>T (p.Ser187Leu) rs143952576 0.00012
NM_000383.4(AIRE):c.1158C>T (p.Ala386=) rs199555518 0.00011
NM_000383.4(AIRE):c.1200G>A (p.Pro400=) rs377627680 0.00011
NM_000383.4(AIRE):c.1235C>T (p.Ser412Leu) rs368331265 0.00011
NM_000383.4(AIRE):c.1236G>A (p.Ser412=) rs373985995 0.00011
NM_000383.4(AIRE):c.1394G>A (p.Arg465Gln) rs139835427 0.00011
NM_000383.4(AIRE):c.354C>G (p.Val118=) rs528667089 0.00011
NM_000383.4(AIRE):c.372G>A (p.Pro124=) rs775117249 0.00011
NM_000383.4(AIRE):c.705G>A (p.Lys235=) rs145255118 0.00011
NM_000383.4(AIRE):c.825G>C (p.Gln275His) rs1027582142 0.00011
NM_000383.4(AIRE):c.1115C>T (p.Ser372Leu) rs202237214 0.00010
NM_000383.4(AIRE):c.1450G>A (p.Val484Met) rs367966318 0.00010
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) rs193922417 0.00010
NM_000383.4(AIRE):c.927C>G (p.Ile309Met) rs74162062 0.00010
NM_000383.4(AIRE):c.1095+2T>C rs760280615 0.00009
NM_000383.4(AIRE):c.132+18C>T rs535317267 0.00009
NM_000383.4(AIRE):c.426G>A (p.Ala142=) rs748305262 0.00009
NM_000383.4(AIRE):c.485C>T (p.Pro162Leu) rs138949170 0.00009
NM_000383.4(AIRE):c.520C>T (p.Arg174Cys) rs752687905 0.00009
NM_000383.4(AIRE):c.615C>T (p.Ala205=) rs143784684 0.00009
NM_000383.4(AIRE):c.1203_1278+28del rs1568929576 0.00008
NM_000383.4(AIRE):c.653-16C>T rs368374287 0.00008
NM_000383.4(AIRE):c.659C>T (p.Ser220Phe) rs753236604 0.00008
NM_000383.4(AIRE):c.1094C>T (p.Pro365Leu) rs374475349 0.00007
NM_000383.4(AIRE):c.1095+10C>T rs372932833 0.00007
NM_000383.4(AIRE):c.1323G>A (p.Thr441=) rs201945690 0.00007
NM_000383.4(AIRE):c.137C>T (p.Thr46Met) rs758870962 0.00007
NM_000383.4(AIRE):c.564C>G (p.Val188=) rs201650973 0.00007
NM_000383.4(AIRE):c.652+15G>A rs760027964 0.00007
NM_000383.4(AIRE):c.652+7G>A rs373277723 0.00007
NM_000383.4(AIRE):c.1103C>T (p.Pro368Leu) rs552129156 0.00006
NM_000383.4(AIRE):c.1168A>G (p.Thr390Ala) rs771790456 0.00006
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met) rs201491251 0.00006
NM_000383.4(AIRE):c.1326C>T (p.Asp442=) rs750033525 0.00006
NM_000383.4(AIRE):c.1527C>T (p.Pro509=) rs746856788 0.00006
NM_000383.4(AIRE):c.608G>A (p.Arg203Gln) rs200359179 0.00006
NM_000383.4(AIRE):c.718G>A (p.Gly240Ser) rs142286875 0.00006
NM_000383.4(AIRE):c.756G>A (p.Pro252=) rs765738882 0.00006
NM_000383.4(AIRE):c.798+1G>A rs138489664 0.00006
NM_000383.4(AIRE):c.819G>C (p.Leu273=) rs756188438 0.00006
NM_000383.4(AIRE):c.1048C>T (p.Pro350Ser) rs554591629 0.00005
NM_000383.4(AIRE):c.1107G>T (p.Gly369=) rs767432975 0.00005
NM_000383.4(AIRE):c.1367G>A (p.Arg456His) rs554954634 0.00005
NM_000383.4(AIRE):c.1422C>T (p.Ser474=) rs760924817 0.00005
NM_000383.4(AIRE):c.156G>A (p.Lys52=) rs144396624 0.00005
NM_000383.4(AIRE):c.464-14G>T rs569160989 0.00005
NM_000383.4(AIRE):c.1081C>T (p.Pro361Ser) rs1267538837 0.00004
NM_000383.4(AIRE):c.1279-8T>G rs374358283 0.00004
NM_000383.4(AIRE):c.1348G>A (p.Ala450Thr) rs758446796 0.00004
NM_000383.4(AIRE):c.1398C>T (p.Pro466=) rs1402673356 0.00004
NM_000383.4(AIRE):c.1403C>T (p.Thr468Met) rs775349581 0.00004
NM_000383.4(AIRE):c.1458G>A (p.Gly486=) rs774298250 0.00004
NM_000383.4(AIRE):c.1503+10G>A rs1319625944 0.00004
NM_000383.4(AIRE):c.166C>T (p.Pro56Ser) rs753460287 0.00004
NM_000383.4(AIRE):c.347C>T (p.Pro116Leu) rs151049459 0.00004
NM_000383.4(AIRE):c.351C>T (p.Ala117=) rs201929488 0.00004
NM_000383.4(AIRE):c.352G>A (p.Val118Ile) rs370599883 0.00004
NM_000383.4(AIRE):c.488C>A (p.Pro163His) rs771592755 0.00004
NM_000383.4(AIRE):c.531C>T (p.Leu177=) rs538568691 0.00004
NM_000383.4(AIRE):c.652+1G>T rs199612115 0.00004
NM_000383.4(AIRE):c.655G>A (p.Gly219Ser) rs139620961 0.00004
NM_000383.4(AIRE):c.73G>C (p.Ala25Pro) rs761025044 0.00004
NM_000383.4(AIRE):c.740G>A (p.Arg247His) rs763487370 0.00004
NM_000383.4(AIRE):c.947G>A (p.Arg316Gln) rs202027254 0.00004
NM_000383.4(AIRE):c.1031C>T (p.Thr344Ile) rs929430876 0.00003
NM_000383.4(AIRE):c.132+16G>A rs1272044102 0.00003
NM_000383.4(AIRE):c.1327G>A (p.Val443Met) rs557522986 0.00003
NM_000383.4(AIRE):c.1347C>T (p.Cys449=) rs367619299 0.00003
NM_000383.4(AIRE):c.1400+7G>C rs781592443 0.00003
NM_000383.4(AIRE):c.1481G>A (p.Arg494His) rs528762050 0.00003
NM_000383.4(AIRE):c.1563C>T (p.Ser521=) rs746873146 0.00003
NM_000383.4(AIRE):c.1620G>A (p.Ala540=) rs372219460 0.00003
NM_000383.4(AIRE):c.30T>C (p.Leu10=) rs1024577400 0.00003
NM_000383.4(AIRE):c.464-6A>G rs773945988 0.00003
NM_000383.4(AIRE):c.57G>A (p.Ala19=) rs761739665 0.00003
NM_000383.4(AIRE):c.799-18C>T rs752494949 0.00003
NM_000383.4(AIRE):c.799-4G>A rs1359244532 0.00003
NM_000383.4(AIRE):c.872T>C (p.Leu291Pro) rs767272852 0.00003
NM_000383.4(AIRE):c.979C>A (p.Leu327Ile) rs1029648118 0.00003
NM_000383.4(AIRE):c.1014C>G (p.Ser338=) rs746054293 0.00002
NM_000383.4(AIRE):c.108C>A (p.Asp36Glu) rs758891043 0.00002
NM_000383.4(AIRE):c.1191G>T (p.Leu397=) rs572680101 0.00002
NM_000383.4(AIRE):c.1193C>T (p.Pro398Leu) rs754391375 0.00002
NM_000383.4(AIRE):c.1302C>T (p.Cys434=) rs370969296 0.00002
NM_000383.4(AIRE):c.1329G>A (p.Val443=) rs370017667 0.00002
NM_000383.4(AIRE):c.1333C>T (p.Arg445Trp) rs921069738 0.00002
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln) rs753878067 0.00002
NM_000383.4(AIRE):c.1370G>A (p.Cys457Tyr) rs373383785 0.00002
NM_000383.4(AIRE):c.1401-7G>A rs888720163 0.00002
NM_000383.4(AIRE):c.1434C>T (p.Asp478=) rs575870442 0.00002
NM_000383.4(AIRE):c.1454A>T (p.Glu485Val) rs779510704 0.00002
NM_000383.4(AIRE):c.1503+7G>T rs1161056630 0.00002
NM_000383.4(AIRE):c.1516A>G (p.Ser506Gly) rs201602355 0.00002
NM_000383.4(AIRE):c.1566+11C>A rs200735043 0.00002
NM_000383.4(AIRE):c.1612C>T (p.Arg538Cys) rs1416029492 0.00002
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000383.4(AIRE):c.1623C>G (p.Ala541=) rs1332443962 0.00002
NM_000383.4(AIRE):c.18G>C (p.Ala6=) rs1228505896 0.00002
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) rs179363880 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000383.4(AIRE):c.276G>A (p.Arg92=) rs765892829 0.00002
NM_000383.4(AIRE):c.423C>T (p.Ala141=) rs572002344 0.00002
NM_000383.4(AIRE):c.453C>T (p.Thr151=) rs554372593 0.00002
NM_000383.4(AIRE):c.498G>A (p.Pro166=) rs372169498 0.00002
NM_000383.4(AIRE):c.540G>A (p.Gly180=) rs777290325 0.00002
NM_000383.4(AIRE):c.607C>T (p.Arg203Ter) rs755490967 0.00002
NM_000383.4(AIRE):c.653-15G>A rs371094356 0.00002
NM_000383.4(AIRE):c.753C>G (p.Gly251=) rs772650680 0.00002
NM_000383.4(AIRE):c.790G>A (p.Ala264Thr) rs746154390 0.00002
NM_000383.4(AIRE):c.880-20G>C rs749193829 0.00002
NM_000383.4(AIRE):c.1015A>G (p.Ser339Gly) rs919219488 0.00001
NM_000383.4(AIRE):c.1023G>A (p.Leu341=) rs1352758309 0.00001
NM_000383.4(AIRE):c.1035C>T (p.Val345=) rs1480626384 0.00001
NM_000383.4(AIRE):c.1053G>A (p.Arg351=) rs760115494 0.00001
NM_000383.4(AIRE):c.1063C>A (p.Pro355Thr) rs1405678537 0.00001
NM_000383.4(AIRE):c.1063C>T (p.Pro355Ser) rs1405678537 0.00001
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln) rs752432041 0.00001
NM_000383.4(AIRE):c.1069C>T (p.Pro357Ser) rs200540137 0.00001
NM_000383.4(AIRE):c.1074G>A (p.Gln358=) rs1294643656 0.00001
NM_000383.4(AIRE):c.1095+5G>T rs1057522692 0.00001
NM_000383.4(AIRE):c.1096-16G>A rs374995530 0.00001
NM_000383.4(AIRE):c.1096-1G>A rs780906602 0.00001
NM_000383.4(AIRE):c.1098C>A (p.Leu366=) rs769360966 0.00001
NM_000383.4(AIRE):c.10G>A (p.Asp4Asn) rs1014398252 0.00001
NM_000383.4(AIRE):c.1132A>G (p.Arg378Gly) rs758775963 0.00001
NM_000383.4(AIRE):c.1142C>T (p.Pro381Leu) rs145243072 0.00001
NM_000383.4(AIRE):c.1161C>T (p.Gly387=) rs372895437 0.00001
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672 0.00001
NM_000383.4(AIRE):c.1170G>A (p.Thr390=) rs935084604 0.00001
NM_000383.4(AIRE):c.1179C>T (p.Val393=) rs752897977 0.00001
NM_000383.4(AIRE):c.117C>T (p.Pro39=) rs1033297636 0.00001
NM_000383.4(AIRE):c.1182C>T (p.Tyr394=) rs1482020075 0.00001
NM_000383.4(AIRE):c.118G>C (p.Glu40Gln) rs867495755 0.00001
NM_000383.4(AIRE):c.1194G>A (p.Pro398=) rs375536220 0.00001
NM_000383.4(AIRE):c.1210G>A (p.Ala404Thr) rs1340047804 0.00001
NM_000383.4(AIRE):c.1214C>T (p.Pro405Leu) rs769719554 0.00001
NM_000383.4(AIRE):c.1223G>C (p.Gly408Ala) rs751963717 0.00001
NM_000383.4(AIRE):c.1233C>T (p.Ser411=) rs1446995144 0.00001
NM_000383.4(AIRE):c.1243C>T (p.His415Tyr) rs752398254 0.00001
NM_000383.4(AIRE):c.1246C>T (p.Pro416Ser) rs199621393 0.00001
NM_000383.4(AIRE):c.1248C>G (p.Pro416=) rs74162064 0.00001
NM_000383.4(AIRE):c.1249C>T (p.Leu417=) rs1248107084 0.00001
NM_000383.4(AIRE):c.1271G>A (p.Gly424Asp) rs1208287091 0.00001
NM_000383.4(AIRE):c.1272T>C (p.Gly424=) rs527566053 0.00001
NM_000383.4(AIRE):c.1278+10G>A rs2040561918 0.00001
NM_000383.4(AIRE):c.1278+1G>A rs1184559866 0.00001
NM_000383.4(AIRE):c.1278+6C>T rs372612211 0.00001
NM_000383.4(AIRE):c.1279-20C>T rs1464505488 0.00001
NM_000383.4(AIRE):c.1282C>T (p.Leu428=) rs2040571465 0.00001
NM_000383.4(AIRE):c.1289C>T (p.Pro430Leu) rs751271727 0.00001
NM_000383.4(AIRE):c.1294G>A (p.Ala432Thr) rs1296392334 0.00001
NM_000383.4(AIRE):c.1295C>T (p.Ala432Val) rs531220961 0.00001
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs) rs763695515 0.00001
NM_000383.4(AIRE):c.1311C>T (p.Cys437=) rs771244760 0.00001
NM_000383.4(AIRE):c.132+17C>T rs1234416509 0.00001
NM_000383.4(AIRE):c.1338T>C (p.Cys446=) rs979048802 0.00001
NM_000383.4(AIRE):c.1345T>C (p.Cys449Arg) rs957681340 0.00001
NM_000383.4(AIRE):c.1350C>T (p.Ala450=) rs747182922 0.00001
NM_000383.4(AIRE):c.138G>A (p.Thr46=) rs376741040 0.00001
NM_000383.4(AIRE):c.1392C>A (p.Ser464=) rs759575621 0.00001
NM_000383.4(AIRE):c.1400+17G>A rs772820639 0.00001
NM_000383.4(AIRE):c.1400+19C>T rs368373038 0.00001
NM_000383.4(AIRE):c.1418G>A (p.Arg473Lys) rs750662701 0.00001
NM_000383.4(AIRE):c.1427C>T (p.Ser476Leu) rs754217318 0.00001
NM_000383.4(AIRE):c.1456G>C (p.Gly486Arg) rs749111202 0.00001
NM_000383.4(AIRE):c.1467C>T (p.Ala489=) rs1296834483 0.00001
NM_000383.4(AIRE):c.1480C>T (p.Arg494Cys) rs1465595959 0.00001
NM_000383.4(AIRE):c.1493G>A (p.Gly498Glu) rs1189029187 0.00001
NM_000383.4(AIRE):c.1503+8C>T rs1390347231 0.00001
NM_000383.4(AIRE):c.1503+9C>T rs984302778 0.00001
NM_000383.4(AIRE):c.1504-4C>T rs1314268321 0.00001
NM_000383.4(AIRE):c.1520A>T (p.His507Leu) rs373920616 0.00001
NM_000383.4(AIRE):c.1566+2T>A rs1057516985 0.00001
NM_000383.4(AIRE):c.1567-4G>A rs372099368 0.00001
NM_000383.4(AIRE):c.1617G>A (p.Pro539=) rs769335225 0.00001
NM_000383.4(AIRE):c.1619C>T (p.Ala540Val) rs376731017 0.00001
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) rs386833673 0.00001
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp) rs747941115 0.00001
NM_000383.4(AIRE):c.183C>T (p.Ala61=) rs1471783563 0.00001
NM_000383.4(AIRE):c.1A>G (p.Met1Val) rs121434258 0.00001
NM_000383.4(AIRE):c.1A>T (p.Met1Leu) rs121434258 0.00001
NM_000383.4(AIRE):c.21A>G (p.Leu7=) rs1347611962 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000383.4(AIRE):c.275G>A (p.Arg92Gln) rs1288735234 0.00001
NM_000383.4(AIRE):c.305A>G (p.Lys102Arg) rs777675955 0.00001
NM_000383.4(AIRE):c.308-12C>T rs753353875 0.00001
NM_000383.4(AIRE):c.308-1G>C rs764588340 0.00001
NM_000383.4(AIRE):c.353T>A (p.Val118Asp) rs772511282 0.00001
NM_000383.4(AIRE):c.424G>A (p.Ala142Thr) rs755258600 0.00001
NM_000383.4(AIRE):c.454G>A (p.Ala152Thr) rs771314896 0.00001
NM_000383.4(AIRE):c.459C>T (p.Ser153=) rs997396625 0.00001
NM_000383.4(AIRE):c.463+16G>C rs761329134 0.00001
NM_000383.4(AIRE):c.463+2T>C rs786204478 0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000383.4(AIRE):c.468T>C (p.Ser156=) rs1265020470 0.00001
NM_000383.4(AIRE):c.477G>A (p.Lys159=) rs1192838059 0.00001
NM_000383.4(AIRE):c.489C>A (p.Pro163=) rs1006635868 0.00001
NM_000383.4(AIRE):c.51G>C (p.Glu17Asp) rs1036995518 0.00001
NM_000383.4(AIRE):c.534G>A (p.Gly178=) rs1160671214 0.00001
NM_000383.4(AIRE):c.538+3G>A rs557176517 0.00001
NM_000383.4(AIRE):c.590G>C (p.Gly197Ala) rs1185406745 0.00001
NM_000383.4(AIRE):c.624G>A (p.Gly208=) rs769510002 0.00001
NM_000383.4(AIRE):c.627C>T (p.Ile209=) rs775304437 0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886 0.00001
NM_000383.4(AIRE):c.652+8C>T rs1418632354 0.00001
NM_000383.4(AIRE):c.653-10C>G rs760848364 0.00001
NM_000383.4(AIRE):c.653-5C>T rs771182213 0.00001
NM_000383.4(AIRE):c.653-9T>A rs941927668 0.00001
NM_000383.4(AIRE):c.67G>A (p.Asp23Asn) rs975525470 0.00001
NM_000383.4(AIRE):c.789del (p.Ala264fs) rs387906295 0.00001
NM_000383.4(AIRE):c.794C>T (p.Ala265Val) rs775896896 0.00001
NM_000383.4(AIRE):c.798+5G>A rs1490186498 0.00001
NM_000383.4(AIRE):c.799-7C>T rs1287851004 0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878 0.00001
NM_000383.4(AIRE):c.840C>T (p.Pro280=) rs772423300 0.00001
NM_000383.4(AIRE):c.841G>A (p.Ala281Thr) rs778148534 0.00001
NM_000383.4(AIRE):c.843C>T (p.Ala281=) rs769454980 0.00001
NM_000383.4(AIRE):c.855C>T (p.Leu285=) rs267606152 0.00001
NM_000383.4(AIRE):c.860G>A (p.Ser287Asn) rs375819189 0.00001
NM_000383.4(AIRE):c.891C>T (p.Asp297=) rs527944302 0.00001
NM_000383.4(AIRE):c.892G>A (p.Glu298Lys) rs763636007 0.00001
NM_000383.4(AIRE):c.900C>T (p.Ala300=) rs536338321 0.00001
NM_000383.4(AIRE):c.90C>T (p.His30=) rs754316070 0.00001
NM_000383.4(AIRE):c.939C>T (p.Gly313=) rs2040535317 0.00001
NM_000383.4(AIRE):c.96G>T (p.Leu32=) rs987241240 0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) rs179363885 0.00001
NM_000383.4(AIRE):c.983G>A (p.Arg328Gln) rs775921321 0.00001
NM_000383.4(AIRE):c.993C>T (p.Pro331=) rs761394248 0.00001
NC_000021.8:g.(?_45629566)_(45711113_?)dup
NC_000021.8:g.(?_45629566)_(46330717_?)dup
NC_000021.8:g.(?_45705869)_(45711113_?)del
NC_000021.8:g.(?_45705870)_(45707494_?)del
NC_000021.8:g.(?_45705870)_(45711113_?)del
NC_000021.8:g.(?_45705880)_(45707026_?)del
NC_000021.8:g.(?_45705880)_(45711103_?)del
NC_000021.8:g.(?_45709520)_(45759077_?)dup
NC_000021.8:g.(?_45709640)_(45714378_?)del
NC_000021.8:g.(?_45713652)_(45717630_?)dup
NC_000021.8:g.(?_45716246)_(45717610_?)del
NC_000021.8:g.(?_45717519)_(45717610_?)dup
NC_000021.9:g.(?_44285987)_(44297747_?)del
NC_000021.9:g.(?_44297636)_(44297747_?)dup
NC_000021.9:g.44288345_44288346del
NM_000383.4(AIRE):c.-17_27del (p.Met1fs) rs2040477031
NM_000383.4(AIRE):c.1001C>A (p.Thr334Asn)
NM_000383.4(AIRE):c.1002C>G (p.Thr334=) rs2146382261
NM_000383.4(AIRE):c.1008G>A (p.Arg336=) rs2146382269
NM_000383.4(AIRE):c.1010G>T (p.Cys337Phe)
NM_000383.4(AIRE):c.1012T>C (p.Ser338Pro)
NM_000383.4(AIRE):c.1017C>G (p.Ser339Arg)
NM_000383.4(AIRE):c.1017C>T (p.Ser339=) rs2040549304
NM_000383.4(AIRE):c.1020C>T (p.Cys340=)
NM_000383.4(AIRE):c.1023G>T (p.Leu341=) rs1352758309
NM_000383.4(AIRE):c.1026G>A (p.Gln342=)
NM_000383.4(AIRE):c.102C>A (p.Asp34Glu)
NM_000383.4(AIRE):c.102C>T (p.Asp34=)
NM_000383.4(AIRE):c.1035C>G (p.Val345=) rs1480626384
NM_000383.4(AIRE):c.1044G>T (p.Val348=)
NM_000383.4(AIRE):c.1045C>T (p.Gln349Ter)
NM_000383.4(AIRE):c.1049C>G (p.Pro350Arg) rs1013117342
NM_000383.4(AIRE):c.1051C>G (p.Arg351Gly) rs149078622
NM_000383.4(AIRE):c.1051C>T (p.Arg351Trp)
NM_000383.4(AIRE):c.1052G>A (p.Arg351Gln)
NM_000383.4(AIRE):c.1054_1068dup (p.Ala352_Arg356dup) rs1481102287
NM_000383.4(AIRE):c.1060G>T (p.Glu354Ter)
NM_000383.4(AIRE):c.1062G>A (p.Glu354=) rs867985822
NM_000383.4(AIRE):c.1064C>T (p.Pro355Leu)
NM_000383.4(AIRE):c.1065_1079del (p.Arg356_Pro360del) rs1555872876
NM_000383.4(AIRE):c.1066C>A (p.Arg356=)
NM_000383.4(AIRE):c.1066del (p.Arg356fs)
NM_000383.4(AIRE):c.1066dup (p.Arg356fs) rs1555872879
NM_000383.4(AIRE):c.1071C>T (p.Pro357=)
NM_000383.4(AIRE):c.1072C>T (p.Gln358Ter)
NM_000383.4(AIRE):c.107del (p.Asp36fs)
NM_000383.4(AIRE):c.1083C>G (p.Pro361=) rs201010030
NM_000383.4(AIRE):c.1084G>A (p.Val362Met) rs763954225
NM_000383.4(AIRE):c.1084G>T (p.Val362Leu) rs763954225
NM_000383.4(AIRE):c.1084del (p.Val362fs) rs1057517254
NM_000383.4(AIRE):c.1086G>A (p.Val362=)
NM_000383.4(AIRE):c.1089G>A (p.Glu363=) rs1317375627
NM_000383.4(AIRE):c.1089G>T (p.Glu363Asp)
NM_000383.4(AIRE):c.108C>G (p.Asp36Glu)
NM_000383.4(AIRE):c.1091C>A (p.Thr364Asn) rs757362732
NM_000383.4(AIRE):c.1091C>G (p.Thr364Ser)
NM_000383.4(AIRE):c.1091C>T (p.Thr364Ile) rs757362732
NM_000383.4(AIRE):c.1092C>G (p.Thr364=) rs1367419200
NM_000383.4(AIRE):c.1092C>T (p.Thr364=)
NM_000383.4(AIRE):c.1094_1095delinsTC (p.Pro365Leu)
NM_000383.4(AIRE):c.1095+10C>A rs372932833
NM_000383.4(AIRE):c.1095+16del
NM_000383.4(AIRE):c.1095+18C>T
NM_000383.4(AIRE):c.1095+19C>T
NM_000383.4(AIRE):c.1095+1G>C
NM_000383.4(AIRE):c.1095+23_1095+64del rs1037154559
NM_000383.4(AIRE):c.1095+23_1095+64dup
NM_000383.4(AIRE):c.1095+4T>G
NM_000383.4(AIRE):c.1095+7C>A rs2146382492
NM_000383.4(AIRE):c.1095G>A (p.Pro365=) rs750688330
NM_000383.4(AIRE):c.1096-10T>C rs2146383145
NM_000383.4(AIRE):c.1096-12C>G
NM_000383.4(AIRE):c.1096-14C>T
NM_000383.4(AIRE):c.1096-20T>C
NM_000383.4(AIRE):c.1096-9G>T
NM_000383.4(AIRE):c.1100C>T (p.Pro367Leu)
NM_000383.4(AIRE):c.1101C>T (p.Pro367=)
NM_000383.4(AIRE):c.1102C>G (p.Pro368Ala) rs768381413
NM_000383.4(AIRE):c.1103dup (p.Leu370fs) rs387906293
NM_000383.4(AIRE):c.1111A>C (p.Arg371=) rs2146383235
NM_000383.4(AIRE):c.1119G>A (p.Ala373=) rs765586915
NM_000383.4(AIRE):c.1121G>T (p.Gly374Val)
NM_000383.4(AIRE):c.1122A>C (p.Gly374=)
NM_000383.4(AIRE):c.1124A>G (p.Glu375Gly)
NM_000383.4(AIRE):c.1125G>A (p.Glu375=) rs1601969062
NM_000383.4(AIRE):c.1128G>C (p.Glu376Asp)
NM_000383.4(AIRE):c.1136G>A (p.Gly379Asp)
NM_000383.4(AIRE):c.1137T>C (p.Gly379=)
NM_000383.4(AIRE):c.1143_1144del (p.Glu383fs) rs746933095
NM_000383.4(AIRE):c.1146G>C (p.Gly382=) rs2146383342
NM_000383.4(AIRE):c.1149A>G (p.Glu383=) rs779589936
NM_000383.4(AIRE):c.114C>A (p.Val38=) rs1192858868
NM_000383.4(AIRE):c.1151C>T (p.Pro384Leu) rs1469479088
NM_000383.4(AIRE):c.1152C>A (p.Pro384=) rs2146383355
NM_000383.4(AIRE):c.1152C>T (p.Pro384=)
NM_000383.4(AIRE):c.1153C>T (p.Leu385=) rs748929295
NM_000383.4(AIRE):c.1155A>G (p.Leu385=) rs1391807242
NM_000383.4(AIRE):c.1158C>A (p.Ala386=)
NM_000383.4(AIRE):c.1158C>G (p.Ala386=) rs199555518
NM_000383.4(AIRE):c.1159G>A (p.Gly387Ser)
NM_000383.4(AIRE):c.1167C>T (p.Asp389=)
NM_000383.4(AIRE):c.1175T>C (p.Leu392Pro)
NM_000383.4(AIRE):c.1179C>G (p.Val393=) rs752897977
NM_000383.4(AIRE):c.117C>G (p.Pro39=) rs1033297636
NM_000383.4(AIRE):c.1181A>G (p.Tyr394Cys) rs763440543
NM_000383.4(AIRE):c.1182C>A (p.Tyr394Ter) rs1482020075
NM_000383.4(AIRE):c.1192_1196dup (p.Pro400fs) rs2146383463
NM_000383.4(AIRE):c.1193del (p.Pro398fs) rs1555872988
NM_000383.4(AIRE):c.1195G>T (p.Ala399Ser)
NM_000383.4(AIRE):c.1196C>A (p.Ala399Asp)
NM_000383.4(AIRE):c.1196_1197delinsAC (p.Ala399Asp) rs2040560125
NM_000383.4(AIRE):c.11A>T (p.Asp4Val) rs2146375006
NM_000383.4(AIRE):c.1202C>G (p.Pro401Arg)
NM_000383.4(AIRE):c.1206T>C (p.Ser402=) rs1327799658
NM_000383.4(AIRE):c.1207G>A (p.Ala403Thr) rs543891914
NM_000383.4(AIRE):c.1214C>A (p.Pro405Gln)
NM_000383.4(AIRE):c.1214del (p.Pro405fs) rs2040560523
NM_000383.4(AIRE):c.1215G>T (p.Pro405=) rs72650676
NM_000383.4(AIRE):c.1218G>A (p.Leu406=)
NM_000383.4(AIRE):c.121G>A (p.Asp41Asn)
NM_000383.4(AIRE):c.1220C>G (p.Pro407Arg) rs2146383548
NM_000383.4(AIRE):c.1224G>A (p.Gly408=)
NM_000383.4(AIRE):c.1225C>T (p.Leu409=) rs1264168197
NM_000383.4(AIRE):c.1227G>A (p.Leu409=) rs762289753
NM_000383.4(AIRE):c.122A>G (p.Asp41Gly)
NM_000383.4(AIRE):c.1230C>T (p.Asp410=) rs2146383558
NM_000383.4(AIRE):c.1233del (p.Ser412fs) rs2146383573
NM_000383.4(AIRE):c.1239C>T (p.Ala413=) rs2146383603
NM_000383.4(AIRE):c.123C>T (p.Asp41=)
NM_000383.4(AIRE):c.1242G>A (p.Leu414=)
NM_000383.4(AIRE):c.1245C>T (p.His415=)
NM_000383.4(AIRE):c.1248C>A (p.Pro416=) rs74162064
NM_000383.4(AIRE):c.1249C>A (p.Leu417Ile) rs1248107084
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1250_1251insTCTCCTCGGCCCTGCACCCCCT (p.Cys419fs) rs2146383561
NM_000383.4(AIRE):c.1252C>T (p.Leu418=)
NM_000383.4(AIRE):c.1256G>A (p.Cys419Tyr) rs756933733
NM_000383.4(AIRE):c.1256G>T (p.Cys419Phe) rs756933733
NM_000383.4(AIRE):c.1259_1260del (p.Val420fs) rs759281545
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.126G>A (p.Lys42=)
NM_000383.4(AIRE):c.1271G>T (p.Gly424Val)
NM_000383.4(AIRE):c.1271del (p.Gly424fs)
NM_000383.4(AIRE):c.1273C>T (p.Gln425Ter) rs1601969308
NM_000383.4(AIRE):c.1278+10G>C
NM_000383.4(AIRE):c.1278+12G>A rs371283816
NM_000383.4(AIRE):c.1278+12G>T
NM_000383.4(AIRE):c.1278+13T>C
NM_000383.4(AIRE):c.1278+16G>A
NM_000383.4(AIRE):c.1278+18G>A
NM_000383.4(AIRE):c.1278+1del rs996389327
NM_000383.4(AIRE):c.1278+5dup rs2146383693
NM_000383.4(AIRE):c.1278+7G>A rs564103678
NM_000383.4(AIRE):c.1278+7G>C
NM_000383.4(AIRE):c.1278+8G>A
NM_000383.4(AIRE):c.1279-12T>G
NM_000383.4(AIRE):c.1279-17G>A
NM_000383.4(AIRE):c.1279-20C>G
NM_000383.4(AIRE):c.1279-2A>G rs1555873087
NM_000383.4(AIRE):c.1279-4A>G
NM_000383.4(AIRE):c.1279-5C>A
NM_000383.4(AIRE):c.1279-9C>T rs371186900
NM_000383.4(AIRE):c.1285G>T (p.Ala429Ser)
NM_000383.4(AIRE):c.1290T>G (p.Pro430=)
NM_000383.4(AIRE):c.1298G>A (p.Arg433His)
NM_000383.4(AIRE):c.1299T>C (p.Arg433=) rs780148497
NM_000383.4(AIRE):c.1299T>G (p.Arg433=)
NM_000383.4(AIRE):c.12C>T (p.Asp4=) rs768696010
NM_000383.4(AIRE):c.1302C>A (p.Cys434Ter)
NM_000383.4(AIRE):c.1302C>G (p.Cys434Trp)
NM_000383.4(AIRE):c.1305G>A (p.Gly435=) rs2146384547
NM_000383.4(AIRE):c.1310G>A (p.Cys437Tyr)
NM_000383.4(AIRE):c.1316_1334del (p.Asp439fs)
NM_000383.4(AIRE):c.1317T>C (p.Asp439=) rs1474485684
NM_000383.4(AIRE):c.1317T>G (p.Asp439Glu)
NM_000383.4(AIRE):c.132+11C>T rs2146375260
NM_000383.4(AIRE):c.132+12G>A
NM_000383.4(AIRE):c.132+12G>C
NM_000383.4(AIRE):c.132+15C>A
NM_000383.4(AIRE):c.132+15C>G
NM_000383.4(AIRE):c.132+15C>T rs780730527
NM_000383.4(AIRE):c.132+16G>C rs1272044102
NM_000383.4(AIRE):c.132+1_132+3delinsCT rs886041293
NM_000383.4(AIRE):c.132+22del
NM_000383.4(AIRE):c.132+2T>C
NM_000383.4(AIRE):c.132+8C>G rs1568926049
NM_000383.4(AIRE):c.132+8C>T
NM_000383.4(AIRE):c.1321A>G (p.Thr441Ala) rs768250058
NM_000383.4(AIRE):c.1323G>C (p.Thr441=)
NM_000383.4(AIRE):c.1327G>C (p.Val443Leu)
NM_000383.4(AIRE):c.1329G>T (p.Val443=) rs370017667
NM_000383.4(AIRE):c.133-14C>A
NM_000383.4(AIRE):c.133-15G>A
NM_000383.4(AIRE):c.133-16T>C
NM_000383.4(AIRE):c.133-18C>T
NM_000383.4(AIRE):c.133-20C>T
NM_000383.4(AIRE):c.133-4G>A
NM_000383.4(AIRE):c.133-6C>T
NM_000383.4(AIRE):c.133-8C>T rs753084849
NM_000383.4(AIRE):c.133-9C>T
NM_000383.4(AIRE):c.1330C>T (p.Leu444=) rs1221626097
NM_000383.4(AIRE):c.1332G>T (p.Leu444=)
NM_000383.4(AIRE):c.1335G>C (p.Arg445=)
NM_000383.4(AIRE):c.1341T>C (p.Thr447=) rs2040573330
NM_000383.4(AIRE):c.1344C>G (p.His448Gln) rs201131119
NM_000383.4(AIRE):c.1350C>A (p.Ala450=)
NM_000383.4(AIRE):c.1351G>A (p.Ala451Thr)
NM_000383.4(AIRE):c.1353T>C (p.Ala451=) rs781502496
NM_000383.4(AIRE):c.1353T>G (p.Ala451=) rs781502496
NM_000383.4(AIRE):c.1354G>A (p.Ala452Thr) rs1480139411
NM_000383.4(AIRE):c.135G>A (p.Glu45=)
NM_000383.4(AIRE):c.1362C>T (p.His454=) rs2146384697
NM_000383.4(AIRE):c.1366C>T (p.Arg456Cys)
NM_000383.4(AIRE):c.1368C>T (p.Arg456=) rs2146384725
NM_000383.4(AIRE):c.1373A>G (p.His458Arg) rs1601969955
NM_000383.4(AIRE):c.1380A>C (p.Pro460=)
NM_000383.4(AIRE):c.1383C>G (p.Ala461=)
NM_000383.4(AIRE):c.1384G>A (p.Gly462Ser)
NM_000383.4(AIRE):c.1384G>C (p.Gly462Arg)
NM_000383.4(AIRE):c.1386C>T (p.Gly462=)
NM_000383.4(AIRE):c.1387A>T (p.Thr463Ser)
NM_000383.4(AIRE):c.1389C>T (p.Thr463=) rs1464240052
NM_000383.4(AIRE):c.1391C>T (p.Ser464Phe) rs559428418
NM_000383.4(AIRE):c.1392C>G (p.Ser464=) rs759575621
NM_000383.4(AIRE):c.1393C>T (p.Arg465Trp)
NM_000383.4(AIRE):c.1394G>C (p.Arg465Pro)
NM_000383.4(AIRE):c.1395G>A (p.Arg465=)
NM_000383.4(AIRE):c.1396C>T (p.Pro466Ser) rs1411629170
NM_000383.4(AIRE):c.1398C>A (p.Pro466=)
NM_000383.4(AIRE):c.1399G>A (p.Gly467Arg) rs202018301
NM_000383.4(AIRE):c.1399G>C (p.Gly467Arg) rs202018301
NM_000383.4(AIRE):c.13G>A (p.Ala5Thr)
NM_000383.4(AIRE):c.13_14delinsTT (p.Ala5Leu) rs2146375021
NM_000383.4(AIRE):c.1400+10C>A rs372277949
NM_000383.4(AIRE):c.1400+11G>A
NM_000383.4(AIRE):c.1400+12T>C rs563869880
NM_000383.4(AIRE):c.1400+15T>A
NM_000383.4(AIRE):c.1400+16C>T
NM_000383.4(AIRE):c.1400+17G>T
NM_000383.4(AIRE):c.1400+19C>A
NM_000383.4(AIRE):c.1400+1G>A rs1469386000
NM_000383.4(AIRE):c.1400+20G>A
NM_000383.4(AIRE):c.1400+2T>C
NM_000383.4(AIRE):c.1400+6T>A
NM_000383.4(AIRE):c.1400+9G>A rs2146384820
NM_000383.4(AIRE):c.1400G>C (p.Gly467Ala)
NM_000383.4(AIRE):c.1401-10T>G
NM_000383.4(AIRE):c.1401-16T>G
NM_000383.4(AIRE):c.1401-18C>T
NM_000383.4(AIRE):c.1401-19C>A
NM_000383.4(AIRE):c.1401-1G>A
NM_000383.4(AIRE):c.1401-4G>A rs2146385724
NM_000383.4(AIRE):c.1401-5T>C rs1206047355
NM_000383.4(AIRE):c.1401-5T>G
NM_000383.4(AIRE):c.1401-8T>C
NM_000383.4(AIRE):c.1401-9C>G
NM_000383.4(AIRE):c.1401G>T (p.Gly467=)
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1404G>C (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1404G>T (p.Thr468=)
NM_000383.4(AIRE):c.1408C>T (p.Leu470=)
NM_000383.4(AIRE):c.1409T>C (p.Leu470Pro)
NM_000383.4(AIRE):c.1412G>A (p.Arg471His)
NM_000383.4(AIRE):c.1412del (p.Arg471fs)
NM_000383.4(AIRE):c.1415G>A (p.Cys472Tyr)
NM_000383.4(AIRE):c.1417A>C (p.Arg473=) rs2146385780
NM_000383.4(AIRE):c.1418G>C (p.Arg473Thr) rs750662701
NM_000383.4(AIRE):c.1422C>G (p.Ser474=)
NM_000383.4(AIRE):c.1427C>G (p.Ser476Ter)
NM_000383.4(AIRE):c.1429G>T (p.Gly477Ter) rs866898746
NM_000383.4(AIRE):c.1435G>A (p.Val479Met)
NM_000383.4(AIRE):c.1438A>G (p.Thr480Ala)
NM_000383.4(AIRE):c.143_145del (p.His48del) rs1601964364
NM_000383.4(AIRE):c.1440C>A (p.Thr480=) rs1402478750
NM_000383.4(AIRE):c.1443A>G (p.Pro481=) rs2146385828
NM_000383.4(AIRE):c.1447C>A (p.Pro483Thr) rs780816581
NM_000383.4(AIRE):c.1447C>G (p.Pro483Ala)
NM_000383.4(AIRE):c.1448C>G (p.Pro483Arg) rs2146385840
NM_000383.4(AIRE):c.1449_1476del (p.Val484fs)
NM_000383.4(AIRE):c.1451T>C (p.Val484Ala)
NM_000383.4(AIRE):c.1452G>T (p.Val484=) rs2146385848
NM_000383.4(AIRE):c.1458G>T (p.Gly486=)
NM_000383.4(AIRE):c.1460T>C (p.Val487Ala)
NM_000383.4(AIRE):c.1464G>A (p.Leu488=) rs2146385885
NM_000383.4(AIRE):c.1464G>T (p.Leu488=)
NM_000383.4(AIRE):c.1466C>T (p.Ala489Val) rs2146385893
NM_000383.4(AIRE):c.1468C>T (p.Pro490Ser)
NM_000383.4(AIRE):c.1470_1490del (p.Ser491_Pro497del)
NM_000383.4(AIRE):c.1473C>T (p.Ser491=) rs761718813
NM_000383.4(AIRE):c.1474C>G (p.Pro492Ala)
NM_000383.4(AIRE):c.1476C>A (p.Pro492=) rs72650679
NM_000383.4(AIRE):c.1478C>G (p.Ala493Gly)
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs) rs1057517072
NM_000383.4(AIRE):c.1481G>T (p.Arg494Leu) rs528762050
NM_000383.4(AIRE):c.1491T>C (p.Pro497=) rs528761924
NM_000383.4(AIRE):c.1497T>C (p.Pro499=)
NM_000383.4(AIRE):c.1497T>G (p.Pro499=) rs926723773
NM_000383.4(AIRE):c.1497del (p.Ala500fs)
NM_000383.4(AIRE):c.149A>G (p.Lys50Arg)
NM_000383.4(AIRE):c.14_15del (p.Ala5fs) rs2146375012
NM_000383.4(AIRE):c.1503+10G>C
NM_000383.4(AIRE):c.1503+11C>T
NM_000383.4(AIRE):c.1503+13G>T
NM_000383.4(AIRE):c.1503+14G>A
NM_000383.4(AIRE):c.1503+16G>T
NM_000383.4(AIRE):c.1503+17C>T
NM_000383.4(AIRE):c.1503+18C>T
NM_000383.4(AIRE):c.1503+1G>A
NM_000383.4(AIRE):c.1503+1G>T rs1156582406
NM_000383.4(AIRE):c.1503+9C>A
NM_000383.4(AIRE):c.1504-13T>A
NM_000383.4(AIRE):c.1504-14_1504-13del
NM_000383.4(AIRE):c.1504-17T>C
NM_000383.4(AIRE):c.1504-18C>T
NM_000383.4(AIRE):c.1505A>T (p.Asp502Val) rs1444691231
NM_000383.4(AIRE):c.1512T>C (p.Thr504=) rs2040607807
NM_000383.4(AIRE):c.1515C>A (p.Ala505=)
NM_000383.4(AIRE):c.1517G>T (p.Ser506Ile)
NM_000383.4(AIRE):c.1521C>T (p.His507=) rs751968210
NM_000383.4(AIRE):c.1522G>T (p.Glu508Ter)
NM_000383.4(AIRE):c.1525C>T (p.Pro509Ser) rs999281375
NM_000383.4(AIRE):c.1528G>A (p.Ala510Thr)
NM_000383.4(AIRE):c.1528G>C (p.Ala510Pro)
NM_000383.4(AIRE):c.1540del (p.Asp514fs) rs2146388096
NM_000383.4(AIRE):c.1545C>T (p.Asp515=) rs2146388098
NM_000383.4(AIRE):c.1553C>T (p.Ser518Phe)
NM_000383.4(AIRE):c.1554C>G (p.Ser518=)
NM_000383.4(AIRE):c.1554C>T (p.Ser518=) rs1432714738
NM_000383.4(AIRE):c.1555C>T (p.Leu519Phe)
NM_000383.4(AIRE):c.1558C>T (p.Leu520=)
NM_000383.4(AIRE):c.1563C>A (p.Ser521Arg) rs746873146
NM_000383.4(AIRE):c.1564G>A (p.Glu522Lys)
NM_000383.4(AIRE):c.1566+12C>A
NM_000383.4(AIRE):c.1566+12C>T
NM_000383.4(AIRE):c.1566+12_1566+13del
NM_000383.4(AIRE):c.1566+13C>T
NM_000383.4(AIRE):c.1566+14T>G
NM_000383.4(AIRE):c.1566+15G>A rs2040609241
NM_000383.4(AIRE):c.1566+18C>T
NM_000383.4(AIRE):c.1566+1G>C
NM_000383.4(AIRE):c.1566+5C>T
NM_000383.4(AIRE):c.1566+6G>A
NM_000383.4(AIRE):c.1566+7C>A rs2146388160
NM_000383.4(AIRE):c.1566+9T>A rs2146388175
NM_000383.4(AIRE):c.1567-10T>C
NM_000383.4(AIRE):c.1567-17_1567-15dup rs2146389783
NM_000383.4(AIRE):c.1567-1G>A rs1601973101
NM_000383.4(AIRE):c.1575C>T (p.Phe525=) rs1399845704
NM_000383.4(AIRE):c.1578_1579inv (p.Gly527Ser)
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter) rs1057516272
NM_000383.4(AIRE):c.1581C>A (p.Gly527=)
NM_000383.4(AIRE):c.1587G>A (p.Leu529=) rs779142964
NM_000383.4(AIRE):c.1595C>T (p.Ala532Val)
NM_000383.4(AIRE):c.159G>A (p.Glu53=) rs1413552217
NM_000383.4(AIRE):c.15G>T (p.Ala5=)
NM_000383.4(AIRE):c.1605C>A (p.Ser535Arg) rs2146389859
NM_000383.4(AIRE):c.1608G>T (p.Met536Ile)
NM_000383.4(AIRE):c.1609G>C (p.Ala537Pro)
NM_000383.4(AIRE):c.1613G>A (p.Arg538His)
NM_000383.4(AIRE):c.1615C>A (p.Pro539Thr)
NM_000383.4(AIRE):c.162C>G (p.Gly54=)
NM_000383.4(AIRE):c.1630C>A (p.Pro544Thr)
NM_000383.4(AIRE):c.167C>T (p.Pro56Leu) rs2040484477
NM_000383.4(AIRE):c.173C>G (p.Ala58Gly) rs747941115
NM_000383.4(AIRE):c.174C>G (p.Ala58=)
NM_000383.4(AIRE):c.177C>T (p.Phe59=) rs2146375781
NM_000383.4(AIRE):c.181G>A (p.Ala61Thr)
NM_000383.4(AIRE):c.186C>G (p.Leu62=)
NM_000383.4(AIRE):c.186C>T (p.Leu62=)
NM_000383.4(AIRE):c.187C>A (p.Leu63Met)
NM_000383.4(AIRE):c.193_197dup (p.Leu67fs) rs2146375818
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000383.4(AIRE):c.202A>G (p.Thr68Ala)
NM_000383.4(AIRE):c.205C>T (p.Gln69Ter) rs2146375836
NM_000383.4(AIRE):c.21A>C (p.Leu7=)
NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer) rs1601963938
NM_000383.4(AIRE):c.228C>T (p.Asp76=)
NM_000383.4(AIRE):c.236G>C (p.Arg79Thr)
NM_000383.4(AIRE):c.237G>A (p.Arg79=)
NM_000383.4(AIRE):c.238G>A (p.Val80Met)
NM_000383.4(AIRE):c.23G>A (p.Arg8His)
NM_000383.4(AIRE):c.240G>A (p.Val80=)
NM_000383.4(AIRE):c.241C>T (p.Leu81=)
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu) rs121434255
NM_000383.4(AIRE):c.249G>A (p.Lys83=) rs2146375874
NM_000383.4(AIRE):c.24C>G (p.Arg8=)
NM_000383.4(AIRE):c.253_255del (p.Tyr85del) rs2146375885
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.259C>T (p.Leu87=)
NM_000383.4(AIRE):c.260del (p.Leu87fs) rs1057517428
NM_000383.4(AIRE):c.262G>T (p.Glu88Ter)
NM_000383.4(AIRE):c.266G>T (p.Arg89Leu)
NM_000383.4(AIRE):c.269A>G (p.Tyr90Cys) rs179363883
NM_000383.4(AIRE):c.273C>T (p.Gly91=)
NM_000383.4(AIRE):c.277C>T (p.Leu93=)
NM_000383.4(AIRE):c.278T>A (p.Leu93Gln)
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg) rs179363884
NM_000383.4(AIRE):c.27G>T (p.Arg9=)
NM_000383.4(AIRE):c.280C>T (p.Gln94Ter)
NM_000383.4(AIRE):c.282G>A (p.Gln94=) rs776836665
NM_000383.4(AIRE):c.283C>T (p.Pro95Ser)
NM_000383.4(AIRE):c.285C>T (p.Pro95=)
NM_000383.4(AIRE):c.286A>C (p.Ile96Leu) rs2146375950
NM_000383.4(AIRE):c.290T>C (p.Leu97Pro) rs2146375951
NM_000383.4(AIRE):c.291G>A (p.Leu97=)
NM_000383.4(AIRE):c.294C>T (p.Asp98=) rs2146375955
NM_000383.4(AIRE):c.297C>T (p.Ser99=)
NM_000383.4(AIRE):c.2T>C (p.Met1Thr)
NM_000383.4(AIRE):c.2T>G (p.Met1Arg) rs2146374989
NM_000383.4(AIRE):c.303C>T (p.Pro101=)
NM_000383.4(AIRE):c.307+10G>T
NM_000383.4(AIRE):c.307+11G>A
NM_000383.4(AIRE):c.307+17T>C
NM_000383.4(AIRE):c.307+18C>T rs562210054
NM_000383.4(AIRE):c.307+2T>G rs2146375964
NM_000383.4(AIRE):c.307+9_307+10delinsAT rs2146375974
NM_000383.4(AIRE):c.308-11C>G
NM_000383.4(AIRE):c.308-14_308-9dup
NM_000383.4(AIRE):c.308-18C>T
NM_000383.4(AIRE):c.308-3C>T
NM_000383.4(AIRE):c.308-6C>T
NM_000383.4(AIRE):c.308-7G>T
NM_000383.4(AIRE):c.310G>A (p.Val104Met)
NM_000383.4(AIRE):c.312G>A (p.Val104=)
NM_000383.4(AIRE):c.322C>T (p.Gln108Ter) rs1472808103
NM_000383.4(AIRE):c.324G>A (p.Gln108=)
NM_000383.4(AIRE):c.325C>G (p.Pro109Ala)
NM_000383.4(AIRE):c.326C>T (p.Pro109Leu)
NM_000383.4(AIRE):c.328del (p.Arg110fs) rs1162316051
NM_000383.4(AIRE):c.329G>A (p.Arg110Gln)
NM_000383.4(AIRE):c.332A>C (p.Lys111Thr)
NM_000383.4(AIRE):c.333G>A (p.Lys111=)
NM_000383.4(AIRE):c.336G>A (p.Gly112=)
NM_000383.4(AIRE):c.336G>T (p.Gly112=)
NM_000383.4(AIRE):c.339G>A (p.Arg113=) rs2040488791
NM_000383.4(AIRE):c.340A>T (p.Lys114Ter) rs2146376221
NM_000383.4(AIRE):c.347del (p.Pro116fs) rs1568926472
NM_000383.4(AIRE):c.348G>C (p.Pro116=) rs74162060
NM_000383.4(AIRE):c.348G>T (p.Pro116=)
NM_000383.4(AIRE):c.349del (p.Ala117fs)
NM_000383.4(AIRE):c.354C>A (p.Val118=) rs528667089
NM_000383.4(AIRE):c.354C>T (p.Val118=) rs528667089
NM_000383.4(AIRE):c.355C>A (p.Pro119Thr)
NM_000383.4(AIRE):c.364T>C (p.Leu122=)
NM_000383.4(AIRE):c.36del (p.Arg12fs) rs2146375064
NM_000383.4(AIRE):c.375A>G (p.Pro125=) rs2146376299
NM_000383.4(AIRE):c.378C>T (p.Pro126=)
NM_000383.4(AIRE):c.384C>T (p.Leu128=) rs2146376310
NM_000383.4(AIRE):c.387C>T (p.Pro129=) rs762735482
NM_000383.4(AIRE):c.390C>A (p.Thr130=) rs2040489548
NM_000383.4(AIRE):c.390C>T (p.Thr130=)
NM_000383.4(AIRE):c.402C>T (p.Ala134=) rs2146376334
NM_000383.4(AIRE):c.415C>G (p.Arg139Gly)
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.4(AIRE):c.416G>C (p.Arg139Pro) rs201965760
NM_000383.4(AIRE):c.41A>C (p.His14Pro)
NM_000383.4(AIRE):c.420T>C (p.Ala140=) rs2146376372
NM_000383.4(AIRE):c.423C>A (p.Ala141=)
NM_000383.4(AIRE):c.425C>T (p.Ala142Val)
NM_000383.4(AIRE):c.42C>T (p.His14=) rs2146375067
NM_000383.4(AIRE):c.438G>A (p.Leu146=) rs2146376401
NM_000383.4(AIRE):c.43C>G (p.Arg15Gly) rs179363875
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000383.4(AIRE):c.440C>T (p.Thr147Ile)
NM_000383.4(AIRE):c.443C>T (p.Pro148Leu)
NM_000383.4(AIRE):c.444A>C (p.Pro148=) rs2146376404
NM_000383.4(AIRE):c.449del (p.Gly150fs)
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu) rs179363876
NM_000383.4(AIRE):c.453C>A (p.Thr151=)
NM_000383.4(AIRE):c.45C>T (p.Arg15=)
NM_000383.4(AIRE):c.461C>T (p.Pro154Leu)
NM_000383.4(AIRE):c.463+10C>T
NM_000383.4(AIRE):c.463+12G>T
NM_000383.4(AIRE):c.463+13C>A
NM_000383.4(AIRE):c.463+5C>A
NM_000383.4(AIRE):c.463+5C>T rs569224551
NM_000383.4(AIRE):c.463+6C>G rs2146376456
NM_000383.4(AIRE):c.463+7del
NM_000383.4(AIRE):c.464-16C>T
NM_000383.4(AIRE):c.464-16del
NM_000383.4(AIRE):c.464-17C>T
NM_000383.4(AIRE):c.464-20C>T
NM_000383.4(AIRE):c.464-6A>C
NM_000383.4(AIRE):c.464-7C>A
NM_000383.4(AIRE):c.464-7C>T rs768310786
NM_000383.4(AIRE):c.464-8C>G rs1254160382
NM_000383.4(AIRE):c.467C>T (p.Ser156Phe)
NM_000383.4(AIRE):c.469C>T (p.Gln157Ter) rs1488613451
NM_000383.4(AIRE):c.46A>G (p.Thr16Ala)
NM_000383.4(AIRE):c.46_63dup (p.Thr16_Ala21dup) rs2040477781
NM_000383.4(AIRE):c.471A>G (p.Gln157=)
NM_000383.4(AIRE):c.472C>T (p.Leu158=)
NM_000383.4(AIRE):c.473T>C (p.Leu158Pro) rs2040495001
NM_000383.4(AIRE):c.476A>G (p.Lys159Arg)
NM_000383.4(AIRE):c.478G>A (p.Ala160Thr) rs1568926733
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) rs179363877
NM_000383.4(AIRE):c.481_486del (p.Lys161_Pro162del)
NM_000383.4(AIRE):c.483G>A (p.Lys161=) rs2040495155
NM_000383.4(AIRE):c.488C>T (p.Pro163Leu)
NM_000383.4(AIRE):c.489del (p.Lys164fs) rs746101086
NM_000383.4(AIRE):c.489dup (p.Lys164fs) rs746101086
NM_000383.4(AIRE):c.48G>C (p.Thr16=) rs2146375080
NM_000383.4(AIRE):c.491A>G (p.Lys164Arg)
NM_000383.4(AIRE):c.494A>G (p.Lys165Arg)
NM_000383.4(AIRE):c.507C>G (p.Ser169Arg)
NM_000383.4(AIRE):c.508G>A (p.Ala170Thr)
NM_000383.4(AIRE):c.508_517dup (p.Gln173fs) rs1179261094
NM_000383.4(AIRE):c.510_522del (p.Glu171fs) rs940485051
NM_000383.4(AIRE):c.510_522dup (p.Leu175fs) rs940485051
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.519G>A (p.Gln173=) rs2146376946
NM_000383.4(AIRE):c.520C>G (p.Arg174Gly) rs752687905
NM_000383.4(AIRE):c.524T>C (p.Leu175Pro) rs972262344
NM_000383.4(AIRE):c.527C>T (p.Pro176Leu) rs375658223
NM_000383.4(AIRE):c.531C>A (p.Leu177=)
NM_000383.4(AIRE):c.537C>T (p.Asn179=)
NM_000383.4(AIRE):c.538+10G>T
NM_000383.4(AIRE):c.538+14A>C
NM_000383.4(AIRE):c.538+9G>T
NM_000383.4(AIRE):c.539-14G>A
NM_000383.4(AIRE):c.539-15T>C
NM_000383.4(AIRE):c.539-17G>A
NM_000383.4(AIRE):c.539-18G>A
NM_000383.4(AIRE):c.539-20A>G
NM_000383.4(AIRE):c.539-2A>G rs2146377702
NM_000383.4(AIRE):c.539-6T>G
NM_000383.4(AIRE):c.539-8T>C
NM_000383.4(AIRE):c.539-9C>A
NM_000383.4(AIRE):c.539-9C>T rs757848836
NM_000383.4(AIRE):c.539_540delinsAT (p.Gly180Asp) rs2146377706
NM_000383.4(AIRE):c.545A>C (p.Gln182Pro) rs2040502920
NM_000383.4(AIRE):c.546_547dup (p.Thr183fs)
NM_000383.4(AIRE):c.54C>G (p.Ile18Met)
NM_000383.4(AIRE):c.550A>G (p.Met184Val) rs2146377723
NM_000383.4(AIRE):c.551T>C (p.Met184Thr)
NM_000383.4(AIRE):c.560C>G (p.Ser187Ter) rs143952576
NM_000383.4(AIRE):c.564C>A (p.Val188=) rs201650973
NM_000383.4(AIRE):c.580A>G (p.Met194Val)
NM_000383.4(AIRE):c.581T>C (p.Met194Thr) rs1351412367
NM_000383.4(AIRE):c.599dup (p.Ala202fs) rs1213326298
NM_000383.4(AIRE):c.600G>C (p.Pro200=)
NM_000383.4(AIRE):c.603A>G (p.Gly201=)
NM_000383.4(AIRE):c.615C>G (p.Ala205=) rs143784684
NM_000383.4(AIRE):c.616G>A (p.Val206Met)
NM_000383.4(AIRE):c.619G>A (p.Glu207Lys)
NM_000383.4(AIRE):c.621G>A (p.Glu207=)
NM_000383.4(AIRE):c.637C>G (p.Gln213Glu) rs1029475010
NM_000383.4(AIRE):c.63C>A (p.Ala21=) rs371796437
NM_000383.4(AIRE):c.63C>G (p.Ala21=) rs371796437
NM_000383.4(AIRE):c.645T>C (p.Phe215=)
NM_000383.4(AIRE):c.652+12G>A
NM_000383.4(AIRE):c.652+18G>A
NM_000383.4(AIRE):c.652+2T>C rs1555872272
NM_000383.4(AIRE):c.652+6C>T
NM_000383.4(AIRE):c.652+9T>C rs2146377909
NM_000383.4(AIRE):c.653-10C>T rs760848364
NM_000383.4(AIRE):c.653-12A>G
NM_000383.4(AIRE):c.653-13C>T
NM_000383.4(AIRE):c.653-15G>T
NM_000383.4(AIRE):c.653-20C>T
NM_000383.4(AIRE):c.653-8C>T
NM_000383.4(AIRE):c.654C>A (p.Gly218=) rs146377356
NM_000383.4(AIRE):c.654C>T (p.Gly218=) rs146377356
NM_000383.4(AIRE):c.657C>A (p.Gly219=)
NM_000383.4(AIRE):c.657C>T (p.Gly219=) rs2146379141
NM_000383.4(AIRE):c.660C>T (p.Ser220=)
NM_000383.4(AIRE):c.66G>T (p.Val22=)
NM_000383.4(AIRE):c.672C>T (p.Ile224=)
NM_000383.4(AIRE):c.680_681delinsAT (p.Gly227Asp) rs2146379169
NM_000383.4(AIRE):c.681C>G (p.Gly227=) rs1055311
NM_000383.4(AIRE):c.687G>A (p.Glu229=)
NM_000383.4(AIRE):c.68A>G (p.Asp23Gly) rs2040478254
NM_000383.4(AIRE):c.693C>T (p.Tyr231=) rs1601966572
NM_000383.4(AIRE):c.696T>C (p.Thr232=)
NM_000383.4(AIRE):c.699C>T (p.Pro233=) rs2146379208
NM_000383.4(AIRE):c.708C>T (p.Phe236=) rs908180454
NM_000383.4(AIRE):c.709G>T (p.Glu237Ter)
NM_000383.4(AIRE):c.712G>C (p.Asp238His)
NM_000383.4(AIRE):c.713A>C (p.Asp238Ala)
NM_000383.4(AIRE):c.716C>A (p.Ser239Tyr) rs2146379236
NM_000383.4(AIRE):c.717C>G (p.Ser239=) rs149130190
NM_000383.4(AIRE):c.722G>T (p.Ser241Ile)
NM_000383.4(AIRE):c.723T>C (p.Ser241=)
NM_000383.4(AIRE):c.727A>G (p.Lys243Glu) rs2040517102
NM_000383.4(AIRE):c.729G>A (p.Lys243=)
NM_000383.4(AIRE):c.72C>T (p.Ser24=)
NM_000383.4(AIRE):c.733A>G (p.Lys245Glu)
NM_000383.4(AIRE):c.734A>G (p.Lys245Arg)
NM_000383.4(AIRE):c.739C>T (p.Arg247Cys)
NM_000383.4(AIRE):c.741C>A (p.Arg247=) rs1417017303
NM_000383.4(AIRE):c.741C>T (p.Arg247=)
NM_000383.4(AIRE):c.742A>G (p.Ser248Gly)
NM_000383.4(AIRE):c.747C>T (p.Ser249=)
NM_000383.4(AIRE):c.747del (p.Ser249fs) rs2146379302
NM_000383.4(AIRE):c.756G>T (p.Pro252=) rs765738882
NM_000383.4(AIRE):c.759G>A (p.Lys253=) rs2146379321
NM_000383.4(AIRE):c.766G>A (p.Val256Ile) rs753558091
NM_000383.4(AIRE):c.768del (p.Arg257fs)
NM_000383.4(AIRE):c.774C>T (p.Ala258=) rs2040517869
NM_000383.4(AIRE):c.783C>A (p.Ala261=)
NM_000383.4(AIRE):c.783C>T (p.Ala261=) rs777866382
NM_000383.4(AIRE):c.784C>T (p.Gln262Ter) rs2146379356
NM_000383.4(AIRE):c.785A>G (p.Gln262Arg) rs2040517979
NM_000383.4(AIRE):c.789C>G (p.Gly263=)
NM_000383.4(AIRE):c.78C>T (p.Phe26=) rs1443107040
NM_000383.4(AIRE):c.795C>T (p.Ala265=) rs201171818
NM_000383.4(AIRE):c.798+10T>C
NM_000383.4(AIRE):c.798+12_798+21del rs1456310412
NM_000383.4(AIRE):c.798+14C>A
NM_000383.4(AIRE):c.798+14C>T
NM_000383.4(AIRE):c.798+17C>G
NM_000383.4(AIRE):c.798+17C>T
NM_000383.4(AIRE):c.798+19C>G
NM_000383.4(AIRE):c.798+1G>C rs138489664
NM_000383.4(AIRE):c.798+1G>T rs138489664
NM_000383.4(AIRE):c.798+8C>T
NM_000383.4(AIRE):c.798C>G (p.Pro266=) rs41277550
NM_000383.4(AIRE):c.798C>T (p.Pro266=) rs41277550
NM_000383.4(AIRE):c.798dup (p.Gly267fs)
NM_000383.4(AIRE):c.799-16C>T
NM_000383.4(AIRE):c.799-17G>A rs72650675
NM_000383.4(AIRE):c.799-6T>C rs2146379591
NM_000383.4(AIRE):c.799-8C>T
NM_000383.4(AIRE):c.804A>G (p.Gly268=) rs2146379604
NM_000383.4(AIRE):c.816G>T (p.Arg272Ser) rs1568927979
NM_000383.4(AIRE):c.817C>T (p.Leu273=) rs372819974
NM_000383.4(AIRE):c.819G>T (p.Leu273=) rs756188438
NM_000383.4(AIRE):c.822C>T (p.Gly274=)
NM_000383.4(AIRE):c.823del (p.Gln275fs) rs764819068
NM_000383.4(AIRE):c.827A>G (p.Gln276Arg)
NM_000383.4(AIRE):c.828G>A (p.Gln276=) rs2146379663
NM_000383.4(AIRE):c.831C>T (p.Gly277=) rs1180944731
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000383.4(AIRE):c.834C>T (p.Ser278=) rs1800520
NM_000383.4(AIRE):c.837T>C (p.Val279=)
NM_000383.4(AIRE):c.850G>A (p.Ala284Thr) rs1311252316
NM_000383.4(AIRE):c.851C>G (p.Ala284Gly)
NM_000383.4(AIRE):c.852C>T (p.Ala284=)
NM_000383.4(AIRE):c.858C>A (p.Pro286=) rs1314044062
NM_000383.4(AIRE):c.865C>A (p.Pro289Thr)
NM_000383.4(AIRE):c.867C>G (p.Pro289=)
NM_000383.4(AIRE):c.867C>T (p.Pro289=)
NM_000383.4(AIRE):c.868C>T (p.Gln290Ter)
NM_000383.4(AIRE):c.868del (p.Gln290fs) rs2146379725
NM_000383.4(AIRE):c.876C>T (p.His292=)
NM_000383.4(AIRE):c.878del (p.Gln293fs)
NM_000383.4(AIRE):c.879+11A>G rs1601966929
NM_000383.4(AIRE):c.879+14C>T
NM_000383.4(AIRE):c.879+15C>T
NM_000383.4(AIRE):c.879+17C>T
NM_000383.4(AIRE):c.879+20G>A
NM_000383.4(AIRE):c.879+7C>T
NM_000383.4(AIRE):c.879+7_879+8insA
NM_000383.4(AIRE):c.879+8C>A
NM_000383.4(AIRE):c.879+8C>T rs760555624
NM_000383.4(AIRE):c.87G>A (p.Leu29=) rs2146375160
NM_000383.4(AIRE):c.880-11G>A
NM_000383.4(AIRE):c.880-16C>T
NM_000383.4(AIRE):c.880-19C>A
NM_000383.4(AIRE):c.880-19C>T rs768876713
NM_000383.4(AIRE):c.880-20G>A
NM_000383.4(AIRE):c.880-6T>C
NM_000383.4(AIRE):c.880-7G>T rs141955483
NM_000383.4(AIRE):c.880-9C>T
NM_000383.4(AIRE):c.882G>A (p.Lys294=) rs2146380881
NM_000383.4(AIRE):c.889G>A (p.Asp297Asn) rs2040534355
NM_000383.4(AIRE):c.899C>A (p.Ala300Asp) rs868756561
NM_000383.4(AIRE):c.899C>T (p.Ala300Val) rs868756561
NM_000383.4(AIRE):c.901G>C (p.Val301Leu)
NM_000383.4(AIRE):c.903G>C (p.Val301=) rs1368560349
NM_000383.4(AIRE):c.907C>T (p.Arg303Trp)
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg) rs754932526
NM_000383.4(AIRE):c.924C>T (p.Leu308=)
NM_000383.4(AIRE):c.925A>G (p.Ile309Val) rs936714310
NM_000383.4(AIRE):c.930C>T (p.Cys310=) rs2146380972
NM_000383.4(AIRE):c.931del (p.Cys311fs) rs1555872755
NM_000383.4(AIRE):c.933T>A (p.Cys311Ter)
NM_000383.4(AIRE):c.93G>C (p.Ala31=)
NM_000383.4(AIRE):c.946C>G (p.Arg316Gly)
NM_000383.4(AIRE):c.946C>T (p.Arg316Trp)
NM_000383.4(AIRE):c.948G>A (p.Arg316=)
NM_000383.4(AIRE):c.958del (p.Leu320fs) rs1568928525
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.969G>C (p.Leu323=)
NM_000383.4(AIRE):c.969_975del (p.Ser324fs) rs2146381019
NM_000383.4(AIRE):c.96G>C (p.Leu32=)
NM_000383.4(AIRE):c.978G>A (p.Pro326=) rs972756453
NM_000383.4(AIRE):c.981C>T (p.Leu327=)
NM_000383.4(AIRE):c.984G>A (p.Arg328=) rs2146381050
NM_000383.4(AIRE):c.985G>A (p.Glu329Lys)
NM_000383.4(AIRE):c.987G>A (p.Glu329=) rs2146381060
NM_000383.4(AIRE):c.995+11_995+18del
NM_000383.4(AIRE):c.995+12C>A
NM_000383.4(AIRE):c.995+12C>T
NM_000383.4(AIRE):c.995+15C>T
NM_000383.4(AIRE):c.995+1G>A
NM_000383.4(AIRE):c.995+1G>C
NM_000383.4(AIRE):c.995+3_995+5delinsTAT rs2040536458
NM_000383.4(AIRE):c.996-14G>A
NM_000383.4(AIRE):c.996-15T>C
NM_000383.4(AIRE):c.996-1G>A
NM_000383.4(AIRE):c.996-20_996-17del
NM_000383.4(AIRE):c.996-4G>A rs1057104935
NM_000383.4(AIRE):c.996-6G>A rs781400305
NM_000383.4(AIRE):c.996-7C>A rs568895777
NM_000383.4(AIRE):c.996-9C>T
NM_000383.4(AIRE):c.999G>A (p.Gly333=)
NM_000383.4(AIRE):c.999G>T (p.Gly333=) rs1445602810
NM_000383.4(AIRE):c.9G>A (p.Thr3=)
NM_000383.4(AIRE):c.9G>C (p.Thr3=)

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