NM_000383.4(AIRE):c.652+14C>T
|
rs41277546
|
0.01242
|
NM_000383.4(AIRE):c.1279-18C>T
|
rs72650678
|
0.00839
|
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)
|
rs72650677
|
0.00100
|
NM_000383.4(AIRE):c.901G>A (p.Val301Met)
|
rs150634562
|
0.00092
|
NM_000383.4(AIRE):c.447G>A (p.Arg149=)
|
rs374704178
|
0.00069
|
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu)
|
rs140196414
|
0.00036
|
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.982C>T (p.Arg328Trp)
|
rs74162063
|
0.00028
|
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.169C>G (p.Gln57Glu)
|
rs200955183
|
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.748A>T (p.Ser250Cys)
|
rs141480813
|
0.00016
|
NM_000383.4(AIRE):c.1312G>A (p.Gly438Arg)
|
rs553396434
|
0.00015
|
NM_000383.4(AIRE):c.600G>A (p.Pro200=)
|
rs754331960
|
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_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.1235C>T (p.Ser412Leu)
|
rs368331265
|
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.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.927C>G (p.Ile309Met)
|
rs74162062
|
0.00010
|
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.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.652+15G>A
|
rs760027964
|
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.608G>A (p.Arg203Gln)
|
rs200359179
|
0.00006
|
NM_000383.4(AIRE):c.718G>A (p.Gly240Ser)
|
rs142286875
|
0.00006
|
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_000383.4(AIRE):c.156G>A (p.Lys52=)
|
rs144396624
|
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.1398C>T (p.Pro466=)
|
rs1402673356
|
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.328C>T (p.Arg110Trp)
|
rs764029559
|
0.00004
|
NM_000383.4(AIRE):c.347C>T (p.Pro116Leu)
|
rs151049459
|
0.00004
|
NM_000383.4(AIRE):c.351C>T (p.Ala117=)
|
rs201929488
|
0.00004
|
NM_000383.4(AIRE):c.352G>A (p.Val118Ile)
|
rs370599883
|
0.00004
|
NM_000383.4(AIRE):c.488C>A (p.Pro163His)
|
rs771592755
|
0.00004
|
NM_000383.4(AIRE):c.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.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.872T>C (p.Leu291Pro)
|
rs767272852
|
0.00003
|
NM_000383.4(AIRE):c.979C>A (p.Leu327Ile)
|
rs1029648118
|
0.00003
|
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_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.1067G>A (p.Arg356Gln)
|
rs752432041
|
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.1161C>T (p.Gly387=)
|
rs372895437
|
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.1338T>C (p.Cys446=)
|
rs979048802
|
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.173C>A (p.Ala58Asp)
|
rs747941115
|
0.00001
|
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys)
|
rs1231469574
|
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.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.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.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.860G>A (p.Ser287Asn)
|
rs375819189
|
0.00001
|
NM_000383.4(AIRE):c.892G>A (p.Glu298Lys)
|
rs763636007
|
0.00001
|
NM_000383.4(AIRE):c.90C>T (p.His30=)
|
rs754316070
|
0.00001
|
NM_000383.4(AIRE):c.983G>A (p.Arg328Gln)
|
rs775921321
|
0.00001
|
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
|
|
|
NM_000383.3(AIRE):c.-653_-649dup
|
rs1555871683
|
|
NM_000383.3(AIRE):c.-656_-655insCCC
|
rs1016179869
|
|
NM_000383.4(AIRE):c.-24_1del (p.Met1fs)
|
rs1555871766
|
|
NM_000383.4(AIRE):c.-4C>A
|
rs1004208577
|
|
NM_000383.4(AIRE):c.1001C>A (p.Thr334Asn)
|
|
|
NM_000383.4(AIRE):c.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_1068del (p.Ala352_Arg356del)
|
rs1481102287
|
|
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.1078_1089del (p.Pro360_Glu363del)
|
rs1555872881
|
|
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+23_1095+64del
|
rs1037154559
|
|
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.116C>T (p.Pro39Leu)
|
|
|
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.1336T>G (p.Cys446Gly)
|
rs1555873106
|
|
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.136A>T (p.Thr46Ser)
|
rs2146375707
|
|
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+4A>C
|
rs2040574937
|
|
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.1435G>T (p.Val479Leu)
|
|
|
NM_000383.4(AIRE):c.1438A>G (p.Thr480Ala)
|
|
|
NM_000383.4(AIRE):c.143_145del (p.His48del)
|
rs1601964364
|
|
NM_000383.4(AIRE):c.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.1476C>A (p.Pro492=)
|
rs72650679
|
|
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.1504-818G>A
|
rs181779633
|
|
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.1537A>G (p.Arg513Gly)
|
|
|
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+4A>G
|
|
|
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.1588C>T (p.Gln530Ter)
|
rs1472708073
|
|
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.1612del (p.Arg538fs)
|
rs1555873662
|
|
NM_000383.4(AIRE):c.1613G>A (p.Arg538His)
|
|
|
NM_000383.4(AIRE):c.1615C>A (p.Pro539Thr)
|
|
|
NM_000383.4(AIRE):c.1630C>A (p.Pro544Thr)
|
|
|
NM_000383.4(AIRE):c.167C>T (p.Pro56Leu)
|
rs2040484477
|
|
NM_000383.4(AIRE):c.172G>A (p.Ala58Thr)
|
|
|
NM_000383.4(AIRE):c.181G>A (p.Ala61Thr)
|
|
|
NM_000383.4(AIRE):c.187C>A (p.Leu63Met)
|
|
|
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
|
|
|
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>A (p.Arg89His)
|
rs762267080
|
|
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.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.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.55G>A (p.Ala19Thr)
|
rs1555871798
|
|
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.640G>A (p.Val214Met)
|
rs369232026
|
|
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.773C>G (p.Ala258Gly)
|
rs1388835954
|
|
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
|
|