Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18069591T>ACA404778577IL12RB1c.1144A>T (p.Thr382Ser)
c.1264A>T (p.Thr422Ser)
c.1297A>T (p.Thr433Ser)
c.1285A>T (p.Thr429Ser)
c.1276A>T (p.Thr426Ser)
c.1177A>T (p.Thr393Ser)
c.1165A>T (p.Thr389Ser)
c.562A>T (p.Thr188Ser)
19g.18069591T>CCA404778579IL12RB1c.1144A>G (p.Thr382Ala)
c.1264A>G (p.Thr422Ala)
c.1297A>G (p.Thr433Ala)
c.1285A>G (p.Thr429Ala)
c.1276A>G (p.Thr426Ala)
c.1177A>G (p.Thr393Ala)
c.1165A>G (p.Thr389Ala)
c.562A>G (p.Thr188Ala)
19g.18069591T>GCA404778580IL12RB1c.1144A>C (p.Thr382Pro)
c.1264A>C (p.Thr422Pro)
c.1297A>C (p.Thr433Pro)
c.1285A>C (p.Thr429Pro)
c.1276A>C (p.Thr426Pro)
c.1177A>C (p.Thr393Pro)
c.1165A>C (p.Thr389Pro)
c.562A>C (p.Thr188Pro)
 dbSNP
19g.18069591T=CA2326169841IL12RB1c.1144A= (p.Thr382=)
c.1264A= (p.Thr422=)
c.1297A= (p.Thr433=)
c.1285A= (p.Thr429=)
c.1276A= (p.Thr426=)
c.1177A= (p.Thr393=)
c.1165A= (p.Thr389=)
c.562A= (p.Thr188=)
19g.18069592G>ACA506030110IL12RB1c.1143C>T (p.Ala381=)
c.1263C>T (p.Ala421=)
c.1296C>T (p.Ala432=)
c.1284C>T (p.Ala428=)
c.1275C>T (p.Ala425=)
c.1176C>T (p.Ala392=)
c.1164C>T (p.Ala388=)
c.561C>T (p.Ala187=)
 gnomAD v4
19g.18069592G>CCA506030111IL12RB1c.1143C>G (p.Ala381=)
c.1263C>G (p.Ala421=)
c.1296C>G (p.Ala432=)
c.1284C>G (p.Ala428=)
c.1275C>G (p.Ala425=)
c.1176C>G (p.Ala392=)
c.1164C>G (p.Ala388=)
c.561C>G (p.Ala187=)
19g.18069592G>TCA506030112IL12RB1c.1143C>A (p.Ala381=)
c.1263C>A (p.Ala421=)
c.1296C>A (p.Ala432=)
c.1284C>A (p.Ala428=)
c.1275C>A (p.Ala425=)
c.1176C>A (p.Ala392=)
c.1164C>A (p.Ala388=)
c.561C>A (p.Ala187=)
19g.18069593G>ACA9304950IL12RB1c.1142C>T (p.Ala381Val)
c.1262C>T (p.Ala421Val)
c.1295C>T (p.Ala432Val)
c.1283C>T (p.Ala428Val)
c.1274C>T (p.Ala425Val)
c.1175C>T (p.Ala392Val)
c.1163C>T (p.Ala388Val)
c.560C>T (p.Ala187Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069593G>CCA404778583IL12RB1c.1142C>G (p.Ala381Gly)
c.1262C>G (p.Ala421Gly)
c.1295C>G (p.Ala432Gly)
c.1283C>G (p.Ala428Gly)
c.1274C>G (p.Ala425Gly)
c.1175C>G (p.Ala392Gly)
c.1163C>G (p.Ala388Gly)
c.560C>G (p.Ala187Gly)
19g.18069593G=CA2326169842IL12RB1c.1142C= (p.Ala381=)
c.1262C= (p.Ala421=)
c.1295C= (p.Ala432=)
c.1283C= (p.Ala428=)
c.1274C= (p.Ala425=)
c.1175C= (p.Ala392=)
c.1163C= (p.Ala388=)
c.560C= (p.Ala187=)
19g.18069593G>TCA404778582IL12RB1c.1142C>A (p.Ala381Asp)
c.1262C>A (p.Ala421Asp)
c.1295C>A (p.Ala432Asp)
c.1283C>A (p.Ala428Asp)
c.1274C>A (p.Ala425Asp)
c.1175C>A (p.Ala392Asp)
c.1163C>A (p.Ala388Asp)
c.560C>A (p.Ala187Asp)
 dbSNP gnomAD v4
19g.18069594C>ACA404778586IL12RB1c.1141G>T (p.Ala381Ser)
c.1261G>T (p.Ala421Ser)
c.1294G>T (p.Ala432Ser)
c.1282G>T (p.Ala428Ser)
c.1273G>T (p.Ala425Ser)
c.1174G>T (p.Ala392Ser)
c.1162G>T (p.Ala388Ser)
c.559G>T (p.Ala187Ser)
19g.18069594C>GCA404778587IL12RB1c.1141G>C (p.Ala381Pro)
c.1261G>C (p.Ala421Pro)
c.1294G>C (p.Ala432Pro)
c.1282G>C (p.Ala428Pro)
c.1273G>C (p.Ala425Pro)
c.1174G>C (p.Ala392Pro)
c.1162G>C (p.Ala388Pro)
c.559G>C (p.Ala187Pro)
19g.18069594C>TCA404778589IL12RB1c.1141G>A (p.Ala381Thr)
c.1261G>A (p.Ala421Thr)
c.1294G>A (p.Ala432Thr)
c.1282G>A (p.Ala428Thr)
c.1273G>A (p.Ala425Thr)
c.1174G>A (p.Ala392Thr)
c.1162G>A (p.Ala388Thr)
c.559G>A (p.Ala187Thr)
19g.18069595A=CA2326169843IL12RB1c.1140T= (p.Leu380=)
c.1260T= (p.Leu420=)
c.1293T= (p.Leu431=)
c.1281T= (p.Leu427=)
c.1272T= (p.Leu424=)
c.1173T= (p.Leu391=)
c.1161T= (p.Leu387=)
c.558T= (p.Leu186=)
19g.18069595A>CCA506030121IL12RB1c.1140T>G (p.Leu380=)
c.1260T>G (p.Leu420=)
c.1293T>G (p.Leu431=)
c.1281T>G (p.Leu427=)
c.1272T>G (p.Leu424=)
c.1173T>G (p.Leu391=)
c.1161T>G (p.Leu387=)
c.558T>G (p.Leu186=)
19g.18069595A>GCA506030123IL12RB1c.1140T>C (p.Leu380=)
c.1260T>C (p.Leu420=)
c.1293T>C (p.Leu431=)
c.1281T>C (p.Leu427=)
c.1272T>C (p.Leu424=)
c.1173T>C (p.Leu391=)
c.1161T>C (p.Leu387=)
c.558T>C (p.Leu186=)
 ClinVar dbSNP gnomAD v4
19g.18069595A>TCA506030124IL12RB1c.1140T>A (p.Leu380=)
c.1260T>A (p.Leu420=)
c.1293T>A (p.Leu431=)
c.1281T>A (p.Leu427=)
c.1272T>A (p.Leu424=)
c.1173T>A (p.Leu391=)
c.1161T>A (p.Leu387=)
c.558T>A (p.Leu186=)
19g.18069596A=CA2326169844IL12RB1c.1139T= (p.Leu380=)
c.1259T= (p.Leu420=)
c.1292T= (p.Leu431=)
c.1280T= (p.Leu427=)
c.1271T= (p.Leu424=)
c.1172T= (p.Leu391=)
c.1160T= (p.Leu387=)
c.557T= (p.Leu186=)
19g.18069596A>CCA404778591IL12RB1c.1139T>G (p.Leu380Arg)
c.1259T>G (p.Leu420Arg)
c.1292T>G (p.Leu431Arg)
c.1280T>G (p.Leu427Arg)
c.1271T>G (p.Leu424Arg)
c.1172T>G (p.Leu391Arg)
c.1160T>G (p.Leu387Arg)
c.557T>G (p.Leu186Arg)
19g.18069596A>GCA404778593IL12RB1c.1139T>C (p.Leu380Pro)
c.1259T>C (p.Leu420Pro)
c.1292T>C (p.Leu431Pro)
c.1280T>C (p.Leu427Pro)
c.1271T>C (p.Leu424Pro)
c.1172T>C (p.Leu391Pro)
c.1160T>C (p.Leu387Pro)
c.557T>C (p.Leu186Pro)
19g.18069596A>TCA404778595IL12RB1c.1139T>A (p.Leu380His)
c.1259T>A (p.Leu420His)
c.1292T>A (p.Leu431His)
c.1280T>A (p.Leu427His)
c.1271T>A (p.Leu424His)
c.1172T>A (p.Leu391His)
c.1160T>A (p.Leu387His)
c.557T>A (p.Leu186His)
 dbSNP gnomAD v2 gnomAD v4
19g.18069597G>ACA404778597IL12RB1c.1138C>T (p.Leu380Phe)
c.1258C>T (p.Leu420Phe)
c.1291C>T (p.Leu431Phe)
c.1279C>T (p.Leu427Phe)
c.1270C>T (p.Leu424Phe)
c.1171C>T (p.Leu391Phe)
c.1159C>T (p.Leu387Phe)
c.556C>T (p.Leu186Phe)
 gnomAD v4
19g.18069597G>CCA404778599IL12RB1c.1138C>G (p.Leu380Val)
c.1258C>G (p.Leu420Val)
c.1291C>G (p.Leu431Val)
c.1279C>G (p.Leu427Val)
c.1270C>G (p.Leu424Val)
c.1171C>G (p.Leu391Val)
c.1159C>G (p.Leu387Val)
c.556C>G (p.Leu186Val)
19g.18069597G=CA2326169845IL12RB1c.1138C= (p.Leu380=)
c.1258C= (p.Leu420=)
c.1291C= (p.Leu431=)
c.1279C= (p.Leu427=)
c.1270C= (p.Leu424=)
c.1171C= (p.Leu391=)
c.1159C= (p.Leu387=)
c.556C= (p.Leu186=)
19g.18069597G>TCA9304951IL12RB1c.1138C>A (p.Leu380Ile)
c.1258C>A (p.Leu420Ile)
c.1291C>A (p.Leu431Ile)
c.1279C>A (p.Leu427Ile)
c.1270C>A (p.Leu424Ile)
c.1171C>A (p.Leu391Ile)
c.1159C>A (p.Leu387Ile)
c.556C>A (p.Leu186Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069598G>ACA306162807IL12RB1c.1137C>T (p.Gly379=)
c.1257C>T (p.Gly419=)
c.1290C>T (p.Gly430=)
c.1278C>T (p.Gly426=)
c.1269C>T (p.Gly423=)
c.1170C>T (p.Gly390=)
c.1158C>T (p.Gly386=)
c.555C>T (p.Gly185=)
 dbSNP
19g.18069598G>CCA9304952IL12RB1c.1137C>G (p.Gly379=)
c.1257C>G (p.Gly419=)
c.1290C>G (p.Gly430=)
c.1278C>G (p.Gly426=)
c.1269C>G (p.Gly423=)
c.1170C>G (p.Gly390=)
c.1158C>G (p.Gly386=)
c.555C>G (p.Gly185=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069598G=CA2326169846IL12RB1c.1137C= (p.Gly379=)
c.1257C= (p.Gly419=)
c.1290C= (p.Gly430=)
c.1278C= (p.Gly426=)
c.1269C= (p.Gly423=)
c.1170C= (p.Gly390=)
c.1158C= (p.Gly386=)
c.555C= (p.Gly185=)
19g.18069598G>TCA506030127IL12RB1c.1137C>A (p.Gly379=)
c.1257C>A (p.Gly419=)
c.1290C>A (p.Gly430=)
c.1278C>A (p.Gly426=)
c.1269C>A (p.Gly423=)
c.1170C>A (p.Gly390=)
c.1158C>A (p.Gly386=)
c.555C>A (p.Gly185=)
 dbSNP gnomAD v2 gnomAD v4
19g.18069598_18069599delinsGCCA2326169847IL12RB1c.1136_1137delinsGC (p.Gly379=)
c.1256_1257delinsGC (p.Gly419=)
c.1289_1290delinsGC (p.Gly430=)
c.1277_1278delinsGC (p.Gly426=)
c.1268_1269delinsGC (p.Gly423=)
c.1169_1170delinsGC (p.Gly390=)
c.1157_1158delinsGC (p.Gly386=)
c.554_555delinsGC (p.Gly185=)
19g.18069599C>ACA404778611IL12RB1c.1136G>T (p.Gly379Val)
c.1256G>T (p.Gly419Val)
c.1289G>T (p.Gly430Val)
c.1277G>T (p.Gly426Val)
c.1268G>T (p.Gly423Val)
c.1169G>T (p.Gly390Val)
c.1157G>T (p.Gly386Val)
c.554G>T (p.Gly185Val)
19g.18069599C=CA2326169848IL12RB1c.1136G= (p.Gly379=)
c.1256G= (p.Gly419=)
c.1289G= (p.Gly430=)
c.1277G= (p.Gly426=)
c.1268G= (p.Gly423=)
c.1169G= (p.Gly390=)
c.1157G= (p.Gly386=)
c.554G= (p.Gly185=)
19g.18069599C>GCA404778607IL12RB1c.1136G>C (p.Gly379Ala)
c.1256G>C (p.Gly419Ala)
c.1289G>C (p.Gly430Ala)
c.1277G>C (p.Gly426Ala)
c.1268G>C (p.Gly423Ala)
c.1169G>C (p.Gly390Ala)
c.1157G>C (p.Gly386Ala)
c.554G>C (p.Gly185Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.18069599C>TCA404778609IL12RB1c.1136G>A (p.Gly379Asp)
c.1256G>A (p.Gly419Asp)
c.1289G>A (p.Gly430Asp)
c.1277G>A (p.Gly426Asp)
c.1268G>A (p.Gly423Asp)
c.1169G>A (p.Gly390Asp)
c.1157G>A (p.Gly386Asp)
c.554G>A (p.Gly185Asp)
 dbSNP gnomAD v2 gnomAD v4
19g.18069603dupCA306162809IL12RB1c.1136dup (p.Leu380ProfsTer?)
c.1256dup (p.Leu420ProfsTer?)
c.1289dup (p.Leu431ProfsTer?)
c.1277dup (p.Leu427ProfsTer?)
c.1268dup (p.Leu424ProfsTer?)
c.1169dup (p.Leu391ProfsTer?)
c.1157dup (p.Leu387ProfsTer?)
c.554dup (p.Leu186ProfsTer?)
 dbSNP
19g.18069603delCA2326169849IL12RB1c.1136del (p.Gly379AlafsTer7)
c.1256del (p.Gly419AlafsTer7)
c.1289del (p.Gly430AlafsTer7)
c.1277del (p.Gly426AlafsTer7)
c.1268del (p.Gly423AlafsTer7)
c.1169del (p.Gly390AlafsTer7)
c.1157del (p.Gly386AlafsTer7)
c.554del (p.Gly185AlafsTer7)
 dbSNP gnomAD v4
19g.18069602_18069603delCA2695228476IL12RB1c.1135_1136del (p.Gly379ProfsTer?)
c.1255_1256del (p.Gly419ProfsTer?)
c.1288_1289del (p.Gly430ProfsTer?)
c.1276_1277del (p.Gly426ProfsTer?)
c.1267_1268del (p.Gly423ProfsTer?)
c.1168_1169del (p.Gly390ProfsTer?)
c.1156_1157del (p.Gly386ProfsTer?)
c.553_554del (p.Gly185ProfsTer?)
19g.18069600C>ACA404778614IL12RB1c.1135G>T (p.Gly379Cys)
c.1255G>T (p.Gly419Cys)
c.1288G>T (p.Gly430Cys)
c.1276G>T (p.Gly426Cys)
c.1267G>T (p.Gly423Cys)
c.1168G>T (p.Gly390Cys)
c.1156G>T (p.Gly386Cys)
c.553G>T (p.Gly185Cys)
19g.18069600C=CA2326169850IL12RB1c.1135G= (p.Gly379=)
c.1255G= (p.Gly419=)
c.1288G= (p.Gly430=)
c.1276G= (p.Gly426=)
c.1267G= (p.Gly423=)
c.1168G= (p.Gly390=)
c.1156G= (p.Gly386=)
c.553G= (p.Gly185=)
19g.18069600C>GCA404778616IL12RB1c.1135G>C (p.Gly379Arg)
c.1255G>C (p.Gly419Arg)
c.1288G>C (p.Gly430Arg)
c.1276G>C (p.Gly426Arg)
c.1267G>C (p.Gly423Arg)
c.1168G>C (p.Gly390Arg)
c.1156G>C (p.Gly386Arg)
c.553G>C (p.Gly185Arg)
19g.18069600C>TCA404778619IL12RB1c.1135G>A (p.Gly379Ser)
c.1255G>A (p.Gly419Ser)
c.1288G>A (p.Gly430Ser)
c.1276G>A (p.Gly426Ser)
c.1267G>A (p.Gly423Ser)
c.1168G>A (p.Gly390Ser)
c.1156G>A (p.Gly386Ser)
c.553G>A (p.Gly185Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18069601C>ACA506030131IL12RB1c.1134G>T (p.Gly378=)
c.1254G>T (p.Gly418=)
c.1287G>T (p.Gly429=)
c.1275G>T (p.Gly425=)
c.1266G>T (p.Gly422=)
c.1167G>T (p.Gly389=)
c.1155G>T (p.Gly385=)
c.552G>T (p.Gly184=)
19g.18069601C=CA2326169851IL12RB1c.1134G= (p.Gly378=)
c.1254G= (p.Gly418=)
c.1287G= (p.Gly429=)
c.1275G= (p.Gly425=)
c.1266G= (p.Gly422=)
c.1167G= (p.Gly389=)
c.1155G= (p.Gly385=)
c.552G= (p.Gly184=)
19g.18069601C>GCA506030133IL12RB1c.1134G>C (p.Gly378=)
c.1254G>C (p.Gly418=)
c.1287G>C (p.Gly429=)
c.1275G>C (p.Gly425=)
c.1266G>C (p.Gly422=)
c.1167G>C (p.Gly389=)
c.1155G>C (p.Gly385=)
c.552G>C (p.Gly184=)
 dbSNP gnomAD v3 gnomAD v4
19g.18069601C>TCA506030134IL12RB1c.1134G>A (p.Gly378=)
c.1254G>A (p.Gly418=)
c.1287G>A (p.Gly429=)
c.1275G>A (p.Gly425=)
c.1266G>A (p.Gly422=)
c.1167G>A (p.Gly389=)
c.1155G>A (p.Gly385=)
c.552G>A (p.Gly184=)
19g.18069602C>ACA404778621IL12RB1c.1133G>T (p.Gly378Val)
c.1253G>T (p.Gly418Val)
c.1286G>T (p.Gly429Val)
c.1274G>T (p.Gly425Val)
c.1265G>T (p.Gly422Val)
c.1166G>T (p.Gly389Val)
c.1154G>T (p.Gly385Val)
c.551G>T (p.Gly184Val)
 dbSNP gnomAD v4
19g.18069602C=CA2326169852IL12RB1c.1133G= (p.Gly378=)
c.1253G= (p.Gly418=)
c.1286G= (p.Gly429=)
c.1274G= (p.Gly425=)
c.1265G= (p.Gly422=)
c.1166G= (p.Gly389=)
c.1154G= (p.Gly385=)
c.551G= (p.Gly184=)
19g.18069602C>GCA404778624IL12RB1c.1133G>C (p.Gly378Ala)
c.1253G>C (p.Gly418Ala)
c.1286G>C (p.Gly429Ala)
c.1274G>C (p.Gly425Ala)
c.1265G>C (p.Gly422Ala)
c.1166G>C (p.Gly389Ala)
c.1154G>C (p.Gly385Ala)
c.551G>C (p.Gly184Ala)
 dbSNP gnomAD v3 gnomAD v4
19g.18069602C>TCA9304953IL12RB1c.1133G>A (p.Gly378Glu)
c.1253G>A (p.Gly418Glu)
c.1286G>A (p.Gly429Glu)
c.1274G>A (p.Gly425Glu)
c.1265G>A (p.Gly422Glu)
c.1166G>A (p.Gly389Glu)
c.1154G>A (p.Gly385Glu)
c.551G>A (p.Gly184Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.18069603C>ACA404778629IL12RB1c.1132G>T (p.Gly378Trp)
c.1252G>T (p.Gly418Trp)
c.1285G>T (p.Gly429Trp)
c.1273G>T (p.Gly425Trp)
c.1264G>T (p.Gly422Trp)
c.1165G>T (p.Gly389Trp)
c.1153G>T (p.Gly385Trp)
c.550G>T (p.Gly184Trp)
 ClinVar dbSNP
19g.18069603C=CA2326169853IL12RB1c.1132G= (p.Gly378=)
c.1252G= (p.Gly418=)
c.1285G= (p.Gly429=)
c.1273G= (p.Gly425=)
c.1264G= (p.Gly422=)
c.1165G= (p.Gly389=)
c.1153G= (p.Gly385=)
c.550G= (p.Gly184=)
19g.18069603C>GCA9304954IL12RB1c.1132G>C (p.Gly378Arg)
c.1252G>C (p.Gly418Arg)
c.1285G>C (p.Gly429Arg)
c.1273G>C (p.Gly425Arg)
c.1264G>C (p.Gly422Arg)
c.1165G>C (p.Gly389Arg)
c.1153G>C (p.Gly385Arg)
c.550G>C (p.Gly184Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069603C>TCA9304955IL12RB1c.1132G>A (p.Gly378Arg)
c.1252G>A (p.Gly418Arg)
c.1285G>A (p.Gly429Arg)
c.1273G>A (p.Gly425Arg)
c.1264G>A (p.Gly422Arg)
c.1165G>A (p.Gly389Arg)
c.1153G>A (p.Gly385Arg)
c.550G>A (p.Gly184Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069604G>ACA9304956IL12RB1c.1131C>T (p.Asp377=)
c.1251C>T (p.Asp417=)
c.1284C>T (p.Asp428=)
c.1272C>T (p.Asp424=)
c.1263C>T (p.Asp421=)
c.1164C>T (p.Asp388=)
c.1152C>T (p.Asp384=)
c.549C>T (p.Asp183=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.18069604G>CCA404778634IL12RB1c.1131C>G (p.Asp377Glu)
c.1251C>G (p.Asp417Glu)
c.1284C>G (p.Asp428Glu)
c.1272C>G (p.Asp424Glu)
c.1263C>G (p.Asp421Glu)
c.1164C>G (p.Asp388Glu)
c.1152C>G (p.Asp384Glu)
c.549C>G (p.Asp183Glu)
19g.18069604G=CA2326169854IL12RB1c.1131C= (p.Asp377=)
c.1251C= (p.Asp417=)
c.1284C= (p.Asp428=)
c.1272C= (p.Asp424=)
c.1263C= (p.Asp421=)
c.1164C= (p.Asp388=)
c.1152C= (p.Asp384=)
c.549C= (p.Asp183=)
19g.18069604G>TCA404778636IL12RB1c.1131C>A (p.Asp377Glu)
c.1251C>A (p.Asp417Glu)
c.1284C>A (p.Asp428Glu)
c.1272C>A (p.Asp424Glu)
c.1263C>A (p.Asp421Glu)
c.1164C>A (p.Asp388Glu)
c.1152C>A (p.Asp384Glu)
c.549C>A (p.Asp183Glu)
 COSMIC COSMIC
19g.18069605T>ACA404778640IL12RB1c.1130A>T (p.Asp377Val)
c.1250A>T (p.Asp417Val)
c.1283A>T (p.Asp428Val)
c.1271A>T (p.Asp424Val)
c.1262A>T (p.Asp421Val)
c.1163A>T (p.Asp388Val)
c.1151A>T (p.Asp384Val)
c.548A>T (p.Asp183Val)
19g.18069605T>CCA404778642IL12RB1c.1130A>G (p.Asp377Gly)
c.1250A>G (p.Asp417Gly)
c.1283A>G (p.Asp428Gly)
c.1271A>G (p.Asp424Gly)
c.1262A>G (p.Asp421Gly)
c.1163A>G (p.Asp388Gly)
c.1151A>G (p.Asp384Gly)
c.548A>G (p.Asp183Gly)
19g.18069605T>GCA404778639IL12RB1c.1130A>C (p.Asp377Ala)
c.1250A>C (p.Asp417Ala)
c.1283A>C (p.Asp428Ala)
c.1271A>C (p.Asp424Ala)
c.1262A>C (p.Asp421Ala)
c.1163A>C (p.Asp388Ala)
c.1151A>C (p.Asp384Ala)
c.548A>C (p.Asp183Ala)
19g.18069606C>ACA9304957IL12RB1c.1129G>T (p.Asp377Tyr)
c.1249G>T (p.Asp417Tyr)
c.1282G>T (p.Asp428Tyr)
c.1270G>T (p.Asp424Tyr)
c.1261G>T (p.Asp421Tyr)
c.1162G>T (p.Asp388Tyr)
c.1150G>T (p.Asp384Tyr)
c.547G>T (p.Asp183Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18069606C=CA2326169855IL12RB1c.1129G= (p.Asp377=)
c.1249G= (p.Asp417=)
c.1282G= (p.Asp428=)
c.1270G= (p.Asp424=)
c.1261G= (p.Asp421=)
c.1162G= (p.Asp388=)
c.1150G= (p.Asp384=)
c.547G= (p.Asp183=)
19g.18069606C>GCA404778650IL12RB1c.1129G>C (p.Asp377His)
c.1249G>C (p.Asp417His)
c.1282G>C (p.Asp428His)
c.1270G>C (p.Asp424His)
c.1261G>C (p.Asp421His)
c.1162G>C (p.Asp388His)
c.1150G>C (p.Asp384His)
c.547G>C (p.Asp183His)
19g.18069606C>TCA404778654IL12RB1c.1129G>A (p.Asp377Asn)
c.1249G>A (p.Asp417Asn)
c.1282G>A (p.Asp428Asn)
c.1270G>A (p.Asp424Asn)
c.1261G>A (p.Asp421Asn)
c.1162G>A (p.Asp388Asn)
c.1150G>A (p.Asp384Asn)
c.547G>A (p.Asp183Asn)
19g.18069607C>ACA404778668IL12RB1c.1128G>T (p.Gln376His)
c.1248G>T (p.Gln416His)
c.1281G>T (p.Gln427His)
c.1269G>T (p.Gln423His)
c.1260G>T (p.Gln420His)
c.1161G>T (p.Gln387His)
c.1149G>T (p.Gln383His)
c.546G>T (p.Gln182His)
19g.18069607C=CA2326169856IL12RB1c.1128G= (p.Gln376=)
c.1248G= (p.Gln416=)
c.1281G= (p.Gln427=)
c.1269G= (p.Gln423=)
c.1260G= (p.Gln420=)
c.1161G= (p.Gln387=)
c.1149G= (p.Gln383=)
c.546G= (p.Gln182=)
19g.18069607C>GCA404778672IL12RB1c.1128G>C (p.Gln376His)
c.1248G>C (p.Gln416His)
c.1281G>C (p.Gln427His)
c.1269G>C (p.Gln423His)
c.1260G>C (p.Gln420His)
c.1161G>C (p.Gln387His)
c.1149G>C (p.Gln383His)
c.546G>C (p.Gln182His)
19g.18069607C>TCA9304958IL12RB1c.1128G>A (p.Gln376=)
c.1248G>A (p.Gln416=)
c.1281G>A (p.Gln427=)
c.1269G>A (p.Gln423=)
c.1260G>A (p.Gln420=)
c.1161G>A (p.Gln387=)
c.1149G>A (p.Gln383=)
c.546G>A (p.Gln182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069608T>ACA404778674IL12RB1c.1127A>T (p.Gln376Leu)
c.1247A>T (p.Gln416Leu)
c.1280A>T (p.Gln427Leu)
c.1268A>T (p.Gln423Leu)
c.1259A>T (p.Gln420Leu)
c.1160A>T (p.Gln387Leu)
c.1148A>T (p.Gln383Leu)
c.545A>T (p.Gln182Leu)
19g.18069608T>CCA404778677IL12RB1c.1127A>G (p.Gln376Arg)
c.1247A>G (p.Gln416Arg)
c.1280A>G (p.Gln427Arg)
c.1268A>G (p.Gln423Arg)
c.1259A>G (p.Gln420Arg)
c.1160A>G (p.Gln387Arg)
c.1148A>G (p.Gln383Arg)
c.545A>G (p.Gln182Arg)
19g.18069608T>GCA404778679IL12RB1c.1127A>C (p.Gln376Pro)
c.1247A>C (p.Gln416Pro)
c.1280A>C (p.Gln427Pro)
c.1268A>C (p.Gln423Pro)
c.1259A>C (p.Gln420Pro)
c.1160A>C (p.Gln387Pro)
c.1148A>C (p.Gln383Pro)
c.545A>C (p.Gln182Pro)
 dbSNP gnomAD v2 gnomAD v4
19g.18069608T=CA2326169857IL12RB1c.1127A= (p.Gln376=)
c.1247A= (p.Gln416=)
c.1280A= (p.Gln427=)
c.1268A= (p.Gln423=)
c.1259A= (p.Gln420=)
c.1160A= (p.Gln387=)
c.1148A= (p.Gln383=)
c.545A= (p.Gln182=)
19g.18069609G>ACA119242IL12RB1c.1126C>T (p.Gln376Ter)
c.1246C>T (p.Gln416Ter)
c.1279C>T (p.Gln427Ter)
c.1267C>T (p.Gln423Ter)
c.1258C>T (p.Gln420Ter)
c.1159C>T (p.Gln387Ter)
c.1147C>T (p.Gln383Ter)
c.544C>T (p.Gln182Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18069609G>CCA404778681IL12RB1c.1126C>G (p.Gln376Glu)
c.1246C>G (p.Gln416Glu)
c.1279C>G (p.Gln427Glu)
c.1267C>G (p.Gln423Glu)
c.1258C>G (p.Gln420Glu)
c.1159C>G (p.Gln387Glu)
c.1147C>G (p.Gln383Glu)
c.544C>G (p.Gln182Glu)
19g.18069609G=CA2326169858IL12RB1c.1126C= (p.Gln376=)
c.1246C= (p.Gln416=)
c.1279C= (p.Gln427=)
c.1267C= (p.Gln423=)
c.1258C= (p.Gln420=)
c.1159C= (p.Gln387=)
c.1147C= (p.Gln383=)
c.544C= (p.Gln182=)
19g.18069609G>TCA404778683IL12RB1c.1126C>A (p.Gln376Lys)
c.1246C>A (p.Gln416Lys)
c.1279C>A (p.Gln427Lys)
c.1267C>A (p.Gln423Lys)
c.1258C>A (p.Gln420Lys)
c.1159C>A (p.Gln387Lys)
c.1147C>A (p.Gln383Lys)
c.544C>A (p.Gln182Lys)
 gnomAD v4
19g.18069610G>ACA506030155IL12RB1c.1125C>T (p.Gly375=)
c.1245C>T (p.Gly415=)
c.1278C>T (p.Gly426=)
c.1266C>T (p.Gly422=)
c.1257C>T (p.Gly419=)
c.1158C>T (p.Gly386=)
c.1146C>T (p.Gly382=)
c.543C>T (p.Gly181=)
 gnomAD v4
19g.18069610G>CCA506030156IL12RB1c.1125C>G (p.Gly375=)
c.1245C>G (p.Gly415=)
c.1278C>G (p.Gly426=)
c.1266C>G (p.Gly422=)
c.1257C>G (p.Gly419=)
c.1158C>G (p.Gly386=)
c.1146C>G (p.Gly382=)
c.543C>G (p.Gly181=)
19g.18069610G>TCA506030157IL12RB1c.1125C>A (p.Gly375=)
c.1245C>A (p.Gly415=)
c.1278C>A (p.Gly426=)
c.1266C>A (p.Gly422=)
c.1257C>A (p.Gly419=)
c.1158C>A (p.Gly386=)
c.1146C>A (p.Gly382=)
c.543C>A (p.Gly181=)
 gnomAD v4
19g.18069611C>ACA404778685IL12RB1c.1124G>T (p.Gly375Val)
c.1244G>T (p.Gly415Val)
c.1277G>T (p.Gly426Val)
c.1265G>T (p.Gly422Val)
c.1256G>T (p.Gly419Val)
c.1157G>T (p.Gly386Val)
c.1145G>T (p.Gly382Val)
c.542G>T (p.Gly181Val)
19g.18069611C>GCA404778689IL12RB1c.1124G>C (p.Gly375Ala)
c.1244G>C (p.Gly415Ala)
c.1277G>C (p.Gly426Ala)
c.1265G>C (p.Gly422Ala)
c.1256G>C (p.Gly419Ala)
c.1157G>C (p.Gly386Ala)
c.1145G>C (p.Gly382Ala)
c.542G>C (p.Gly181Ala)
 dbSNP
19g.18069611C>TCA404778692IL12RB1c.1124G>A (p.Gly375Asp)
c.1244G>A (p.Gly415Asp)
c.1277G>A (p.Gly426Asp)
c.1265G>A (p.Gly422Asp)
c.1256G>A (p.Gly419Asp)
c.1157G>A (p.Gly386Asp)
c.1145G>A (p.Gly382Asp)
c.542G>A (p.Gly181Asp)
19g.18069612C>ACA404778699IL12RB1c.1123G>T (p.Gly375Cys)
c.1243G>T (p.Gly415Cys)
c.1276G>T (p.Gly426Cys)
c.1264G>T (p.Gly422Cys)
c.1255G>T (p.Gly419Cys)
c.1156G>T (p.Gly386Cys)
c.1144G>T (p.Gly382Cys)
c.541G>T (p.Gly181Cys)
19g.18069612C>GCA404778695IL12RB1c.1123G>C (p.Gly375Arg)
c.1243G>C (p.Gly415Arg)
c.1276G>C (p.Gly426Arg)
c.1264G>C (p.Gly422Arg)
c.1255G>C (p.Gly419Arg)
c.1156G>C (p.Gly386Arg)
c.1144G>C (p.Gly382Arg)
c.541G>C (p.Gly181Arg)
19g.18069612C>TCA404778697IL12RB1c.1123G>A (p.Gly375Ser)
c.1243G>A (p.Gly415Ser)
c.1276G>A (p.Gly426Ser)
c.1264G>A (p.Gly422Ser)
c.1255G>A (p.Gly419Ser)
c.1156G>A (p.Gly386Ser)
c.1144G>A (p.Gly382Ser)
c.541G>A (p.Gly181Ser)
 gnomAD v4 COSMIC COSMIC
19g.18069613C>ACA506030162IL12RB1c.1122G>T (p.Val374=)
c.1242G>T (p.Val414=)
c.1275G>T (p.Val425=)
c.1263G>T (p.Val421=)
c.1254G>T (p.Val418=)
c.1155G>T (p.Val385=)
c.1143G>T (p.Val381=)
c.540G>T (p.Val180=)
19g.18069613C=CA2326169859IL12RB1c.1122G= (p.Val374=)
c.1242G= (p.Val414=)
c.1275G= (p.Val425=)
c.1263G= (p.Val421=)
c.1254G= (p.Val418=)
c.1155G= (p.Val385=)
c.1143G= (p.Val381=)
c.540G= (p.Val180=)
19g.18069613C>GCA506030163IL12RB1c.1122G>C (p.Val374=)
c.1242G>C (p.Val414=)
c.1275G>C (p.Val425=)
c.1263G>C (p.Val421=)
c.1254G>C (p.Val418=)
c.1155G>C (p.Val385=)
c.1143G>C (p.Val381=)
c.540G>C (p.Val180=)
19g.18069613C>TCA506030164IL12RB1c.1122G>A (p.Val374=)
c.1242G>A (p.Val414=)
c.1275G>A (p.Val425=)
c.1263G>A (p.Val421=)
c.1254G>A (p.Val418=)
c.1155G>A (p.Val385=)
c.1143G>A (p.Val381=)
c.540G>A (p.Val180=)
 dbSNP gnomAD v3 gnomAD v4
19g.18069614A=CA2326169860IL12RB1c.1121T= (p.Val374=)
c.1241T= (p.Val414=)
c.1274T= (p.Val425=)
c.1262T= (p.Val421=)
c.1253T= (p.Val418=)
c.1154T= (p.Val385=)
c.1142T= (p.Val381=)
c.539T= (p.Val180=)
19g.18069614A>CCA404778701IL12RB1c.1121T>G (p.Val374Gly)
c.1241T>G (p.Val414Gly)
c.1274T>G (p.Val425Gly)
c.1262T>G (p.Val421Gly)
c.1253T>G (p.Val418Gly)
c.1154T>G (p.Val385Gly)
c.1142T>G (p.Val381Gly)
c.539T>G (p.Val180Gly)
19g.18069614A>GCA9304959IL12RB1c.1121T>C (p.Val374Ala)
c.1241T>C (p.Val414Ala)
c.1274T>C (p.Val425Ala)
c.1262T>C (p.Val421Ala)
c.1253T>C (p.Val418Ala)
c.1154T>C (p.Val385Ala)
c.1142T>C (p.Val381Ala)
c.539T>C (p.Val180Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069614A>TCA404778705IL12RB1c.1121T>A (p.Val374Glu)
c.1241T>A (p.Val414Glu)
c.1274T>A (p.Val425Glu)
c.1262T>A (p.Val421Glu)
c.1253T>A (p.Val418Glu)
c.1154T>A (p.Val385Glu)
c.1142T>A (p.Val381Glu)
c.539T>A (p.Val180Glu)
19g.18069615C>ACA404778708IL12RB1c.1120G>T (p.Val374Leu)
c.1240G>T (p.Val414Leu)
c.1273G>T (p.Val425Leu)
c.1261G>T (p.Val421Leu)
c.1252G>T (p.Val418Leu)
c.1153G>T (p.Val385Leu)
c.1141G>T (p.Val381Leu)
c.538G>T (p.Val180Leu)
19g.18069615C>GCA404778711IL12RB1c.1120G>C (p.Val374Leu)
c.1240G>C (p.Val414Leu)
c.1273G>C (p.Val425Leu)
c.1261G>C (p.Val421Leu)
c.1252G>C (p.Val418Leu)
c.1153G>C (p.Val385Leu)
c.1141G>C (p.Val381Leu)
c.538G>C (p.Val180Leu)
19g.18069615C>TCA404778714IL12RB1c.1120G>A (p.Val374Met)
c.1240G>A (p.Val414Met)
c.1273G>A (p.Val425Met)
c.1261G>A (p.Val421Met)
c.1252G>A (p.Val418Met)
c.1153G>A (p.Val385Met)
c.1141G>A (p.Val381Met)
c.538G>A (p.Val180Met)
 gnomAD v4
19g.18069616A>CCA506030170IL12RB1c.1119T>G (p.Pro373=)
c.1239T>G (p.Pro413=)
c.1272T>G (p.Pro424=)
c.1260T>G (p.Pro420=)
c.1251T>G (p.Pro417=)
c.1152T>G (p.Pro384=)
c.1140T>G (p.Pro380=)
c.537T>G (p.Pro179=)
19g.18069616A>GCA506030174IL12RB1c.1119T>C (p.Pro373=)
c.1239T>C (p.Pro413=)
c.1272T>C (p.Pro424=)
c.1260T>C (p.Pro420=)
c.1251T>C (p.Pro417=)
c.1152T>C (p.Pro384=)
c.1140T>C (p.Pro380=)
c.537T>C (p.Pro179=)
 dbSNP
19g.18069616A>TCA506030172IL12RB1c.1119T>A (p.Pro373=)
c.1239T>A (p.Pro413=)
c.1272T>A (p.Pro424=)
c.1260T>A (p.Pro420=)
c.1251T>A (p.Pro417=)
c.1152T>A (p.Pro384=)
c.1140T>A (p.Pro380=)
c.537T>A (p.Pro179=)
19g.18069617G>ACA404778715IL12RB1c.1118C>T (p.Pro373Leu)
c.1238C>T (p.Pro413Leu)
c.1271C>T (p.Pro424Leu)
c.1259C>T (p.Pro420Leu)
c.1250C>T (p.Pro417Leu)
c.1151C>T (p.Pro384Leu)
c.1139C>T (p.Pro380Leu)
c.536C>T (p.Pro179Leu)
19g.18069617G>CCA404778718IL12RB1c.1118C>G (p.Pro373Arg)
c.1238C>G (p.Pro413Arg)
c.1271C>G (p.Pro424Arg)
c.1259C>G (p.Pro420Arg)
c.1250C>G (p.Pro417Arg)
c.1151C>G (p.Pro384Arg)
c.1139C>G (p.Pro380Arg)
c.536C>G (p.Pro179Arg)
19g.18069617G>TCA404778721IL12RB1c.1118C>A (p.Pro373His)
c.1238C>A (p.Pro413His)
c.1271C>A (p.Pro424His)
c.1259C>A (p.Pro420His)
c.1250C>A (p.Pro417His)
c.1151C>A (p.Pro384His)
c.1139C>A (p.Pro380His)
c.536C>A (p.Pro179His)
19g.18069618G>ACA404778723IL12RB1c.1117C>T (p.Pro373Ser)
c.1237C>T (p.Pro413Ser)
c.1270C>T (p.Pro424Ser)
c.1258C>T (p.Pro420Ser)
c.1249C>T (p.Pro417Ser)
c.1150C>T (p.Pro384Ser)
c.1138C>T (p.Pro380Ser)
c.535C>T (p.Pro179Ser)
19g.18069618G>CCA404778725IL12RB1c.1117C>G (p.Pro373Ala)
c.1237C>G (p.Pro413Ala)
c.1270C>G (p.Pro424Ala)
c.1258C>G (p.Pro420Ala)
c.1249C>G (p.Pro417Ala)
c.1150C>G (p.Pro384Ala)
c.1138C>G (p.Pro380Ala)
c.535C>G (p.Pro179Ala)
19g.18069618G>TCA404778727IL12RB1c.1117C>A (p.Pro373Thr)
c.1237C>A (p.Pro413Thr)
c.1270C>A (p.Pro424Thr)
c.1258C>A (p.Pro420Thr)
c.1249C>A (p.Pro417Thr)
c.1150C>A (p.Pro384Thr)
c.1138C>A (p.Pro380Thr)
c.535C>A (p.Pro179Thr)
19g.18069619C>ACA404778733IL12RB1c.1116G>T (p.Gln372His)
c.1236G>T (p.Gln412His)
c.1269G>T (p.Gln423His)
c.1257G>T (p.Gln419His)
c.1248G>T (p.Gln416His)
c.1149G>T (p.Gln383His)
c.1137G>T (p.Gln379His)
c.534G>T (p.Gln178His)
19g.18069619C=CA2326169861IL12RB1c.1116G= (p.Gln372=)
c.1236G= (p.Gln412=)
c.1269G= (p.Gln423=)
c.1257G= (p.Gln419=)
c.1248G= (p.Gln416=)
c.1149G= (p.Gln383=)
c.1137G= (p.Gln379=)
c.534G= (p.Gln178=)
19g.18069619C>GCA404778729IL12RB1c.1116G>C (p.Gln372His)
c.1236G>C (p.Gln412His)
c.1269G>C (p.Gln423His)
c.1257G>C (p.Gln419His)
c.1248G>C (p.Gln416His)
c.1149G>C (p.Gln383His)
c.1137G>C (p.Gln379His)
c.534G>C (p.Gln178His)
19g.18069619C>TCA506030180IL12RB1c.1116G>A (p.Gln372=)
c.1236G>A (p.Gln412=)
c.1269G>A (p.Gln423=)
c.1257G>A (p.Gln419=)
c.1248G>A (p.Gln416=)
c.1149G>A (p.Gln383=)
c.1137G>A (p.Gln379=)
c.534G>A (p.Gln178=)
 dbSNP gnomAD v2
19g.18069620T>ACA404778735IL12RB1c.1115A>T (p.Gln372Leu)
c.1235A>T (p.Gln412Leu)
c.1268A>T (p.Gln423Leu)
c.1256A>T (p.Gln419Leu)
c.1247A>T (p.Gln416Leu)
c.1148A>T (p.Gln383Leu)
c.1136A>T (p.Gln379Leu)
c.533A>T (p.Gln178Leu)
19g.18069620T>CCA404778738IL12RB1c.1115A>G (p.Gln372Arg)
c.1235A>G (p.Gln412Arg)
c.1268A>G (p.Gln423Arg)
c.1256A>G (p.Gln419Arg)
c.1247A>G (p.Gln416Arg)
c.1148A>G (p.Gln383Arg)
c.1136A>G (p.Gln379Arg)
c.533A>G (p.Gln178Arg)
19g.18069620T>GCA404778736IL12RB1c.1115A>C (p.Gln372Pro)
c.1235A>C (p.Gln412Pro)
c.1268A>C (p.Gln423Pro)
c.1256A>C (p.Gln419Pro)
c.1247A>C (p.Gln416Pro)
c.1148A>C (p.Gln383Pro)
c.1136A>C (p.Gln379Pro)
c.533A>C (p.Gln178Pro)
19g.18069621G>ACA404778740IL12RB1c.1114C>T (p.Gln372Ter)
c.1234C>T (p.Gln412Ter)
c.1267C>T (p.Gln423Ter)
c.1255C>T (p.Gln419Ter)
c.1246C>T (p.Gln416Ter)
c.1147C>T (p.Gln383Ter)
c.1135C>T (p.Gln379Ter)
c.532C>T (p.Gln178Ter)
19g.18069621G>CCA404778742IL12RB1c.1114C>G (p.Gln372Glu)
c.1234C>G (p.Gln412Glu)
c.1267C>G (p.Gln423Glu)
c.1255C>G (p.Gln419Glu)
c.1246C>G (p.Gln416Glu)
c.1147C>G (p.Gln383Glu)
c.1135C>G (p.Gln379Glu)
c.532C>G (p.Gln178Glu)
19g.18069621G=CA2326169862IL12RB1c.1114C= (p.Gln372=)
c.1234C= (p.Gln412=)
c.1267C= (p.Gln423=)
c.1255C= (p.Gln419=)
c.1246C= (p.Gln416=)
c.1147C= (p.Gln383=)
c.1135C= (p.Gln379=)
c.532C= (p.Gln178=)
19g.18069621G>TCA404778743IL12RB1c.1114C>A (p.Gln372Lys)
c.1234C>A (p.Gln412Lys)
c.1267C>A (p.Gln423Lys)
c.1255C>A (p.Gln419Lys)
c.1246C>A (p.Gln416Lys)
c.1147C>A (p.Gln383Lys)
c.1135C>A (p.Gln379Lys)
c.532C>A (p.Gln178Lys)
19g.18069622C>ACA404778744IL12RB1c.1113G>T (p.Trp371Cys)
c.1233G>T (p.Trp411Cys)
c.1266G>T (p.Trp422Cys)
c.1254G>T (p.Trp418Cys)
c.1245G>T (p.Trp415Cys)
c.1146G>T (p.Trp382Cys)
c.1134G>T (p.Trp378Cys)
c.531G>T (p.Trp177Cys)
 gnomAD v4
19g.18069622C>GCA404778745IL12RB1c.1113G>C (p.Trp371Cys)
c.1233G>C (p.Trp411Cys)
c.1266G>C (p.Trp422Cys)
c.1254G>C (p.Trp418Cys)
c.1245G>C (p.Trp415Cys)
c.1146G>C (p.Trp382Cys)
c.1134G>C (p.Trp378Cys)
c.531G>C (p.Trp177Cys)
19g.18069622C>TCA404778746IL12RB1c.1113G>A (p.Trp371Ter)
c.1233G>A (p.Trp411Ter)
c.1266G>A (p.Trp422Ter)
c.1254G>A (p.Trp418Ter)
c.1245G>A (p.Trp415Ter)
c.1146G>A (p.Trp382Ter)
c.1134G>A (p.Trp378Ter)
c.531G>A (p.Trp177Ter)
 gnomAD v4
19g.18069623dupCA994181350IL12RB1c.1113dup (p.Gln372AlafsTer?)
c.1233dup (p.Gln412AlafsTer?)
c.1266dup (p.Gln423AlafsTer?)
c.1254dup (p.Gln419AlafsTer?)
c.1245dup (p.Gln416AlafsTer?)
c.1146dup (p.Gln383AlafsTer?)
c.1134dup (p.Gln379AlafsTer?)
c.531dup (p.Gln178AlafsTer?)
 dbSNP gnomAD v3 gnomAD v4
19g.18069623C>ACA404778747IL12RB1c.1112G>T (p.Trp371Leu)
c.1232G>T (p.Trp411Leu)
c.1265G>T (p.Trp422Leu)
c.1253G>T (p.Trp418Leu)
c.1244G>T (p.Trp415Leu)
c.1145G>T (p.Trp382Leu)
c.1133G>T (p.Trp378Leu)
c.530G>T (p.Trp177Leu)
19g.18069623C>GCA404778749IL12RB1c.1112G>C (p.Trp371Ser)
c.1232G>C (p.Trp411Ser)
c.1265G>C (p.Trp422Ser)
c.1253G>C (p.Trp418Ser)
c.1244G>C (p.Trp415Ser)
c.1145G>C (p.Trp382Ser)
c.1133G>C (p.Trp378Ser)
c.530G>C (p.Trp177Ser)
19g.18069623C>TCA404778750IL12RB1c.1112G>A (p.Trp371Ter)
c.1232G>A (p.Trp411Ter)
c.1265G>A (p.Trp422Ter)
c.1253G>A (p.Trp418Ter)
c.1244G>A (p.Trp415Ter)
c.1145G>A (p.Trp382Ter)
c.1133G>A (p.Trp378Ter)
c.530G>A (p.Trp177Ter)
19g.18069624A>CCA404778753IL12RB1c.1111T>G (p.Trp371Gly)
c.1231T>G (p.Trp411Gly)
c.1264T>G (p.Trp422Gly)
c.1252T>G (p.Trp418Gly)
c.1243T>G (p.Trp415Gly)
c.1144T>G (p.Trp382Gly)
c.1132T>G (p.Trp378Gly)
c.529T>G (p.Trp177Gly)
19g.18069624A>GCA404778755IL12RB1c.1111T>C (p.Trp371Arg)
c.1231T>C (p.Trp411Arg)
c.1264T>C (p.Trp422Arg)
c.1252T>C (p.Trp418Arg)
c.1243T>C (p.Trp415Arg)
c.1144T>C (p.Trp382Arg)
c.1132T>C (p.Trp378Arg)
c.529T>C (p.Trp177Arg)
19g.18069624A>TCA404778757IL12RB1c.1111T>A (p.Trp371Arg)
c.1231T>A (p.Trp411Arg)
c.1264T>A (p.Trp422Arg)
c.1252T>A (p.Trp418Arg)
c.1243T>A (p.Trp415Arg)
c.1144T>A (p.Trp382Arg)
c.1132T>A (p.Trp378Arg)
c.529T>A (p.Trp177Arg)
19g.18069625T>ACA404778759IL12RB1c.1110A>T (p.Glu370Asp)
c.1230A>T (p.Glu410Asp)
c.1263A>T (p.Glu421Asp)
c.1251A>T (p.Glu417Asp)
c.1242A>T (p.Glu414Asp)
c.1143A>T (p.Glu381Asp)
c.1131A>T (p.Glu377Asp)
c.528A>T (p.Glu176Asp)
19g.18069625T>CCA506030190IL12RB1c.1110A>G (p.Glu370=)
c.1230A>G (p.Glu410=)
c.1263A>G (p.Glu421=)
c.1251A>G (p.Glu417=)
c.1242A>G (p.Glu414=)
c.1143A>G (p.Glu381=)
c.1131A>G (p.Glu377=)
c.528A>G (p.Glu176=)
19g.18069625T>GCA404778761IL12RB1c.1110A>C (p.Glu370Asp)
c.1230A>C (p.Glu410Asp)
c.1263A>C (p.Glu421Asp)
c.1251A>C (p.Glu417Asp)
c.1242A>C (p.Glu414Asp)
c.1143A>C (p.Glu381Asp)
c.1131A>C (p.Glu377Asp)
c.528A>C (p.Glu176Asp)
19g.18069626T>ACA404778763IL12RB1c.1109A>T (p.Glu370Val)
c.1229A>T (p.Glu410Val)
c.1262A>T (p.Glu421Val)
c.1250A>T (p.Glu417Val)
c.1241A>T (p.Glu414Val)
c.1142A>T (p.Glu381Val)
c.1130A>T (p.Glu377Val)
c.527A>T (p.Glu176Val)
19g.18069626T>CCA306162842IL12RB1c.1109A>G (p.Glu370Gly)
c.1229A>G (p.Glu410Gly)
c.1262A>G (p.Glu421Gly)
c.1250A>G (p.Glu417Gly)
c.1241A>G (p.Glu414Gly)
c.1142A>G (p.Glu381Gly)
c.1130A>G (p.Glu377Gly)
c.527A>G (p.Glu176Gly)
 dbSNP
19g.18069626T>GCA404778765IL12RB1c.1109A>C (p.Glu370Ala)
c.1229A>C (p.Glu410Ala)
c.1262A>C (p.Glu421Ala)
c.1250A>C (p.Glu417Ala)
c.1241A>C (p.Glu414Ala)
c.1142A>C (p.Glu381Ala)
c.1130A>C (p.Glu377Ala)
c.527A>C (p.Glu176Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18069626T=CA2326169863IL12RB1c.1109A= (p.Glu370=)
c.1229A= (p.Glu410=)
c.1262A= (p.Glu421=)
c.1250A= (p.Glu417=)
c.1241A= (p.Glu414=)
c.1142A= (p.Glu381=)
c.1130A= (p.Glu377=)
c.527A= (p.Glu176=)
19g.18069627C>ACA404778768IL12RB1c.1108G>T (p.Glu370Ter)
c.1228G>T (p.Glu410Ter)
c.1261G>T (p.Glu421Ter)
c.1249G>T (p.Glu417Ter)
c.1240G>T (p.Glu414Ter)
c.1141G>T (p.Glu381Ter)
c.1129G>T (p.Glu377Ter)
c.526G>T (p.Glu176Ter)
19g.18069627C>GCA404778770IL12RB1c.1108G>C (p.Glu370Gln)
c.1228G>C (p.Glu410Gln)
c.1261G>C (p.Glu421Gln)
c.1249G>C (p.Glu417Gln)
c.1240G>C (p.Glu414Gln)
c.1141G>C (p.Glu381Gln)
c.1129G>C (p.Glu377Gln)
c.526G>C (p.Glu176Gln)
19g.18069627C>TCA404778772IL12RB1c.1108G>A (p.Glu370Lys)
c.1228G>A (p.Glu410Lys)
c.1261G>A (p.Glu421Lys)
c.1249G>A (p.Glu417Lys)
c.1240G>A (p.Glu414Lys)
c.1141G>A (p.Glu381Lys)
c.1129G>A (p.Glu377Lys)
c.526G>A (p.Glu176Lys)
19g.18069628A>CCA404778775IL12RB1c.1107T>G (p.Ile369Met)
c.1227T>G (p.Ile409Met)
c.1260T>G (p.Ile420Met)
c.1248T>G (p.Ile416Met)
c.1239T>G (p.Ile413Met)
c.1140T>G (p.Ile380Met)
c.1128T>G (p.Ile376Met)
c.525T>G (p.Ile175Met)
19g.18069628A>GCA506030200IL12RB1c.1107T>C (p.Ile369=)
c.1227T>C (p.Ile409=)
c.1260T>C (p.Ile420=)
c.1248T>C (p.Ile416=)
c.1239T>C (p.Ile413=)
c.1140T>C (p.Ile380=)
c.1128T>C (p.Ile376=)
c.525T>C (p.Ile175=)
19g.18069628A>TCA506030198IL12RB1c.1107T>A (p.Ile369=)
c.1227T>A (p.Ile409=)
c.1260T>A (p.Ile420=)
c.1248T>A (p.Ile416=)
c.1239T>A (p.Ile413=)
c.1140T>A (p.Ile380=)
c.1128T>A (p.Ile376=)
c.525T>A (p.Ile175=)
19g.18069629A=CA2326169864IL12RB1c.1106T= (p.Ile369=)
c.1226T= (p.Ile409=)
c.1259T= (p.Ile420=)
c.1247T= (p.Ile416=)
c.1238T= (p.Ile413=)
c.1139T= (p.Ile380=)
c.1127T= (p.Ile376=)
c.524T= (p.Ile175=)
19g.18069629A>CCA404778777IL12RB1c.1106T>G (p.Ile369Ser)
c.1226T>G (p.Ile409Ser)
c.1259T>G (p.Ile420Ser)
c.1247T>G (p.Ile416Ser)
c.1238T>G (p.Ile413Ser)
c.1139T>G (p.Ile380Ser)
c.1127T>G (p.Ile376Ser)
c.524T>G (p.Ile175Ser)
19g.18069629A>GCA404778779IL12RB1c.1106T>C (p.Ile369Thr)
c.1226T>C (p.Ile409Thr)
c.1259T>C (p.Ile420Thr)
c.1247T>C (p.Ile416Thr)
c.1238T>C (p.Ile413Thr)
c.1139T>C (p.Ile380Thr)
c.1127T>C (p.Ile376Thr)
c.524T>C (p.Ile175Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.18069629A>TCA404778780IL12RB1c.1106T>A (p.Ile369Asn)
c.1226T>A (p.Ile409Asn)
c.1259T>A (p.Ile420Asn)
c.1247T>A (p.Ile416Asn)
c.1238T>A (p.Ile413Asn)
c.1139T>A (p.Ile380Asn)
c.1127T>A (p.Ile376Asn)
c.524T>A (p.Ile175Asn)
19g.18069630T>ACA404778782IL12RB1c.1105A>T (p.Ile369Phe)
c.1225A>T (p.Ile409Phe)
c.1258A>T (p.Ile420Phe)
c.1246A>T (p.Ile416Phe)
c.1237A>T (p.Ile413Phe)
c.1138A>T (p.Ile380Phe)
c.1126A>T (p.Ile376Phe)
c.523A>T (p.Ile175Phe)
19g.18069630T>CCA404778784IL12RB1c.1105A>G (p.Ile369Val)
c.1225A>G (p.Ile409Val)
c.1258A>G (p.Ile420Val)
c.1246A>G (p.Ile416Val)
c.1237A>G (p.Ile413Val)
c.1138A>G (p.Ile380Val)
c.1126A>G (p.Ile376Val)
c.523A>G (p.Ile175Val)
 dbSNP gnomAD v4
19g.18069630T>GCA404778786IL12RB1c.1105A>C (p.Ile369Leu)
c.1225A>C (p.Ile409Leu)
c.1258A>C (p.Ile420Leu)
c.1246A>C (p.Ile416Leu)
c.1237A>C (p.Ile413Leu)
c.1138A>C (p.Ile380Leu)
c.1126A>C (p.Ile376Leu)
c.523A>C (p.Ile175Leu)
19g.18069630T=CA2326169865IL12RB1c.1105A= (p.Ile369=)
c.1225A= (p.Ile409=)
c.1258A= (p.Ile420=)
c.1246A= (p.Ile416=)
c.1237A= (p.Ile413=)
c.1138A= (p.Ile380=)
c.1126A= (p.Ile376=)
c.523A= (p.Ile175=)
19g.18069631G>ACA506030204IL12RB1c.1104C>T (p.Cys368=)
c.1224C>T (p.Cys408=)
c.1257C>T (p.Cys419=)
c.1245C>T (p.Cys415=)
c.1236C>T (p.Cys412=)
c.1137C>T (p.Cys379=)
c.1125C>T (p.Cys375=)
c.522C>T (p.Cys174=)
 ClinVar COSMIC COSMIC
19g.18069631G>CCA404778788IL12RB1c.1104C>G (p.Cys368Trp)
c.1224C>G (p.Cys408Trp)
c.1257C>G (p.Cys419Trp)
c.1245C>G (p.Cys415Trp)
c.1236C>G (p.Cys412Trp)
c.1137C>G (p.Cys379Trp)
c.1125C>G (p.Cys375Trp)
c.522C>G (p.Cys174Trp)
19g.18069631G>TCA404778790IL12RB1c.1104C>A (p.Cys368Ter)
c.1224C>A (p.Cys408Ter)
c.1257C>A (p.Cys419Ter)
c.1245C>A (p.Cys415Ter)
c.1236C>A (p.Cys412Ter)
c.1137C>A (p.Cys379Ter)
c.1125C>A (p.Cys375Ter)
c.522C>A (p.Cys174Ter)
19g.18069632C>ACA404778792IL12RB1c.1103G>T (p.Cys368Phe)
c.1223G>T (p.Cys408Phe)
c.1256G>T (p.Cys419Phe)
c.1244G>T (p.Cys415Phe)
c.1235G>T (p.Cys412Phe)
c.1136G>T (p.Cys379Phe)
c.1124G>T (p.Cys375Phe)
c.521G>T (p.Cys174Phe)
19g.18069632C=CA2326169866IL12RB1c.1103G= (p.Cys368=)
c.1223G= (p.Cys408=)
c.1256G= (p.Cys419=)
c.1244G= (p.Cys415=)
c.1235G= (p.Cys412=)
c.1136G= (p.Cys379=)
c.1124G= (p.Cys375=)
c.521G= (p.Cys174=)
19g.18069632C>GCA404778794IL12RB1c.1103G>C (p.Cys368Ser)
c.1223G>C (p.Cys408Ser)
c.1256G>C (p.Cys419Ser)
c.1244G>C (p.Cys415Ser)
c.1235G>C (p.Cys412Ser)
c.1136G>C (p.Cys379Ser)
c.1124G>C (p.Cys375Ser)
c.521G>C (p.Cys174Ser)
 gnomAD v4
19g.18069632C>TCA404778793IL12RB1c.1103G>A (p.Cys368Tyr)
c.1223G>A (p.Cys408Tyr)
c.1256G>A (p.Cys419Tyr)
c.1244G>A (p.Cys415Tyr)
c.1235G>A (p.Cys412Tyr)
c.1136G>A (p.Cys379Tyr)
c.1124G>A (p.Cys375Tyr)
c.521G>A (p.Cys174Tyr)
 dbSNP gnomAD v2 gnomAD v4
19g.18069633A>CCA404778797IL12RB1c.1102T>G (p.Cys368Gly)
c.1222T>G (p.Cys408Gly)
c.1255T>G (p.Cys419Gly)
c.1243T>G (p.Cys415Gly)
c.1234T>G (p.Cys412Gly)
c.1135T>G (p.Cys379Gly)
c.1123T>G (p.Cys375Gly)
c.520T>G (p.Cys174Gly)
19g.18069633A>GCA404778799IL12RB1c.1102T>C (p.Cys368Arg)
c.1222T>C (p.Cys408Arg)
c.1255T>C (p.Cys419Arg)
c.1243T>C (p.Cys415Arg)
c.1234T>C (p.Cys412Arg)
c.1135T>C (p.Cys379Arg)
c.1123T>C (p.Cys375Arg)
c.520T>C (p.Cys174Arg)
19g.18069633A>TCA404778800IL12RB1c.1102T>A (p.Cys368Ser)
c.1222T>A (p.Cys408Ser)
c.1255T>A (p.Cys419Ser)
c.1243T>A (p.Cys415Ser)
c.1234T>A (p.Cys412Ser)
c.1135T>A (p.Cys379Ser)
c.1123T>A (p.Cys375Ser)
c.520T>A (p.Cys174Ser)
19g.18069634A=CA2326169867IL12RB1c.1101T= (p.Tyr367=)
c.1221T= (p.Tyr407=)
c.1254T= (p.Tyr418=)
c.1242T= (p.Tyr414=)
c.1233T= (p.Tyr411=)
c.1134T= (p.Tyr378=)
c.1122T= (p.Tyr374=)
c.519T= (p.Tyr173=)
19g.18069634A>CCA404778804IL12RB1c.1101T>G (p.Tyr367Ter)
c.1221T>G (p.Tyr407Ter)
c.1254T>G (p.Tyr418Ter)
c.1242T>G (p.Tyr414Ter)
c.1233T>G (p.Tyr411Ter)
c.1134T>G (p.Tyr378Ter)
c.1122T>G (p.Tyr374Ter)
c.519T>G (p.Tyr173Ter)
19g.18069634A>GCA506030211IL12RB1c.1101T>C (p.Tyr367=)
c.1221T>C (p.Tyr407=)
c.1254T>C (p.Tyr418=)
c.1242T>C (p.Tyr414=)
c.1233T>C (p.Tyr411=)
c.1134T>C (p.Tyr378=)
c.1122T>C (p.Tyr374=)
c.519T>C (p.Tyr173=)
 dbSNP
19g.18069634A>TCA404778806IL12RB1c.1101T>A (p.Tyr367Ter)
c.1221T>A (p.Tyr407Ter)
c.1254T>A (p.Tyr418Ter)
c.1242T>A (p.Tyr414Ter)
c.1233T>A (p.Tyr411Ter)
c.1134T>A (p.Tyr378Ter)
c.1122T>A (p.Tyr374Ter)
c.519T>A (p.Tyr173Ter)
19g.18069635T>ACA404778807IL12RB1c.1100A>T (p.Tyr367Phe)
c.1220A>T (p.Tyr407Phe)
c.1253A>T (p.Tyr418Phe)
c.1241A>T (p.Tyr414Phe)
c.1232A>T (p.Tyr411Phe)
c.1133A>T (p.Tyr378Phe)
c.1121A>T (p.Tyr374Phe)
c.518A>T (p.Tyr173Phe)
 dbSNP gnomAD v2 gnomAD v4
19g.18069635T>CCA404778809IL12RB1c.1100A>G (p.Tyr367Cys)
c.1220A>G (p.Tyr407Cys)
c.1253A>G (p.Tyr418Cys)
c.1241A>G (p.Tyr414Cys)
c.1232A>G (p.Tyr411Cys)
c.1133A>G (p.Tyr378Cys)
c.1121A>G (p.Tyr374Cys)
c.518A>G (p.Tyr173Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18069635T>GCA404778811IL12RB1c.1100A>C (p.Tyr367Ser)
c.1220A>C (p.Tyr407Ser)
c.1253A>C (p.Tyr418Ser)
c.1241A>C (p.Tyr414Ser)
c.1232A>C (p.Tyr411Ser)
c.1133A>C (p.Tyr378Ser)
c.1121A>C (p.Tyr374Ser)
c.518A>C (p.Tyr173Ser)
19g.18069635T=CA2326169868IL12RB1c.1100A= (p.Tyr367=)
c.1220A= (p.Tyr407=)
c.1253A= (p.Tyr418=)
c.1241A= (p.Tyr414=)
c.1232A= (p.Tyr411=)
c.1133A= (p.Tyr378=)
c.1121A= (p.Tyr374=)
c.518A= (p.Tyr173=)
19g.18069636A=CA2326169869IL12RB1c.1099T= (p.Tyr367=)
c.1219T= (p.Tyr407=)
c.1252T= (p.Tyr418=)
c.1240T= (p.Tyr414=)
c.1231T= (p.Tyr411=)
c.1132T= (p.Tyr378=)
c.1120T= (p.Tyr374=)
c.517T= (p.Tyr173=)
19g.18069636A>CCA404778813IL12RB1c.1099T>G (p.Tyr367Asp)
c.1219T>G (p.Tyr407Asp)
c.1252T>G (p.Tyr418Asp)
c.1240T>G (p.Tyr414Asp)
c.1231T>G (p.Tyr411Asp)
c.1132T>G (p.Tyr378Asp)
c.1120T>G (p.Tyr374Asp)
c.517T>G (p.Tyr173Asp)
19g.18069636A>GCA404778815IL12RB1c.1099T>C (p.Tyr367His)
c.1219T>C (p.Tyr407His)
c.1252T>C (p.Tyr418His)
c.1240T>C (p.Tyr414His)
c.1231T>C (p.Tyr411His)
c.1132T>C (p.Tyr378His)
c.1120T>C (p.Tyr374His)
c.517T>C (p.Tyr173His)
 dbSNP
19g.18069636A>TCA404778817IL12RB1c.1099T>A (p.Tyr367Asn)
c.1219T>A (p.Tyr407Asn)
c.1252T>A (p.Tyr418Asn)
c.1240T>A (p.Tyr414Asn)
c.1231T>A (p.Tyr411Asn)
c.1132T>A (p.Tyr378Asn)
c.1120T>A (p.Tyr374Asn)
c.517T>A (p.Tyr173Asn)
19g.18069637C>ACA506030214IL12RB1c.1098G>T (p.Thr366=)
c.1218G>T (p.Thr406=)
c.1251G>T (p.Thr417=)
c.1239G>T (p.Thr413=)
c.1230G>T (p.Thr410=)
c.1131G>T (p.Thr377=)
c.1119G>T (p.Thr373=)
c.516G>T (p.Thr172=)
19g.18069637C=CA2326169870IL12RB1c.1098G= (p.Thr366=)
c.1218G= (p.Thr406=)
c.1251G= (p.Thr417=)
c.1239G= (p.Thr413=)
c.1230G= (p.Thr410=)
c.1131G= (p.Thr377=)
c.1119G= (p.Thr373=)
c.516G= (p.Thr172=)
19g.18069637C>GCA506030216IL12RB1c.1098G>C (p.Thr366=)
c.1218G>C (p.Thr406=)
c.1251G>C (p.Thr417=)
c.1239G>C (p.Thr413=)
c.1230G>C (p.Thr410=)
c.1131G>C (p.Thr377=)
c.1119G>C (p.Thr373=)
c.516G>C (p.Thr172=)
19g.18069637C>TCA9304960IL12RB1c.1098G>A (p.Thr366=)
c.1218G>A (p.Thr406=)
c.1251G>A (p.Thr417=)
c.1239G>A (p.Thr413=)
c.1230G>A (p.Thr410=)
c.1131G>A (p.Thr377=)
c.1119G>A (p.Thr373=)
c.516G>A (p.Thr172=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069638G>ACA9304961IL12RB1c.1097C>T (p.Thr366Met)
c.1217C>T (p.Thr406Met)
c.1250C>T (p.Thr417Met)
c.1238C>T (p.Thr413Met)
c.1229C>T (p.Thr410Met)
c.1130C>T (p.Thr377Met)
c.1118C>T (p.Thr373Met)
c.515C>T (p.Thr172Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.18069638G>CCA404778820IL12RB1c.1097C>G (p.Thr366Arg)
c.1217C>G (p.Thr406Arg)
c.1250C>G (p.Thr417Arg)
c.1238C>G (p.Thr413Arg)
c.1229C>G (p.Thr410Arg)
c.1130C>G (p.Thr377Arg)
c.1118C>G (p.Thr373Arg)
c.515C>G (p.Thr172Arg)
 gnomAD v4
19g.18069638G=CA2326169871IL12RB1c.1097C= (p.Thr366=)
c.1217C= (p.Thr406=)
c.1250C= (p.Thr417=)
c.1238C= (p.Thr413=)
c.1229C= (p.Thr410=)
c.1130C= (p.Thr377=)
c.1118C= (p.Thr373=)
c.515C= (p.Thr172=)
19g.18069638G>TCA404778824IL12RB1c.1097C>A (p.Thr366Lys)
c.1217C>A (p.Thr406Lys)
c.1250C>A (p.Thr417Lys)
c.1238C>A (p.Thr413Lys)
c.1229C>A (p.Thr410Lys)
c.1130C>A (p.Thr377Lys)
c.1118C>A (p.Thr373Lys)
c.515C>A (p.Thr172Lys)
 gnomAD v4
19g.18069639T>ACA404778828IL12RB1c.1096A>T (p.Thr366Ser)
c.1216A>T (p.Thr406Ser)
c.1249A>T (p.Thr417Ser)
c.1237A>T (p.Thr413Ser)
c.1228A>T (p.Thr410Ser)
c.1129A>T (p.Thr377Ser)
c.1117A>T (p.Thr373Ser)
c.514A>T (p.Thr172Ser)
19g.18069639T>CCA404778830IL12RB1c.1096A>G (p.Thr366Ala)
c.1216A>G (p.Thr406Ala)
c.1249A>G (p.Thr417Ala)
c.1237A>G (p.Thr413Ala)
c.1228A>G (p.Thr410Ala)
c.1129A>G (p.Thr377Ala)
c.1117A>G (p.Thr373Ala)
c.514A>G (p.Thr172Ala)
19g.18069639T>GCA404778831IL12RB1c.1096A>C (p.Thr366Pro)
c.1216A>C (p.Thr406Pro)
c.1249A>C (p.Thr417Pro)
c.1237A>C (p.Thr413Pro)
c.1228A>C (p.Thr410Pro)
c.1129A>C (p.Thr377Pro)
c.1117A>C (p.Thr373Pro)
c.514A>C (p.Thr172Pro)
19g.18069640C>ACA404778832IL12RB1c.1095G>T (p.Met365Ile)
c.1215G>T (p.Met405Ile)
c.1248G>T (p.Met416Ile)
c.1236G>T (p.Met412Ile)
c.1227G>T (p.Met409Ile)
c.1128G>T (p.Met376Ile)
c.1116G>T (p.Met372Ile)
c.513G>T (p.Met171Ile)
19g.18069640C=CA2326169872IL12RB1c.1095G= (p.Met365=)
c.1215G= (p.Met405=)
c.1248G= (p.Met416=)
c.1236G= (p.Met412=)
c.1227G= (p.Met409=)
c.1128G= (p.Met376=)
c.1116G= (p.Met372=)
c.513G= (p.Met171=)
19g.18069640C>GCA404778834IL12RB1c.1095G>C (p.Met365Ile)
c.1215G>C (p.Met405Ile)
c.1248G>C (p.Met416Ile)
c.1236G>C (p.Met412Ile)
c.1227G>C (p.Met409Ile)
c.1128G>C (p.Met376Ile)
c.1116G>C (p.Met372Ile)
c.513G>C (p.Met171Ile)
19g.18069640C>TCA404778836IL12RB1c.1095G>A (p.Met365Ile)
c.1215G>A (p.Met405Ile)
c.1248G>A (p.Met416Ile)
c.1236G>A (p.Met412Ile)
c.1227G>A (p.Met409Ile)
c.1128G>A (p.Met376Ile)
c.1116G>A (p.Met372Ile)
c.513G>A (p.Met171Ile)
 dbSNP gnomAD v2 gnomAD v4
19g.18069641A=CA2326169873IL12RB1c.1094T= (p.Met365=)
c.1214T= (p.Met405=)
c.1247T= (p.Met416=)
c.1235T= (p.Met412=)
c.1226T= (p.Met409=)
c.1127T= (p.Met376=)
c.1115T= (p.Met372=)
c.512T= (p.Met171=)
19g.18069641A>CCA404778838IL12RB1c.1094T>G (p.Met365Arg)
c.1214T>G (p.Met405Arg)
c.1247T>G (p.Met416Arg)
c.1235T>G (p.Met412Arg)
c.1226T>G (p.Met409Arg)
c.1127T>G (p.Met376Arg)
c.1115T>G (p.Met372Arg)
c.512T>G (p.Met171Arg)
19g.18069641A>GCA9304962IL12RB1c.1094T>C (p.Met365Thr)
c.1214T>C (p.Met405Thr)
c.1247T>C (p.Met416Thr)
c.1235T>C (p.Met412Thr)
c.1226T>C (p.Met409Thr)
c.1127T>C (p.Met376Thr)
c.1115T>C (p.Met372Thr)
c.512T>C (p.Met171Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069641A>TCA404778840IL12RB1c.1094T>A (p.Met365Lys)
c.1214T>A (p.Met405Lys)
c.1247T>A (p.Met416Lys)
c.1235T>A (p.Met412Lys)
c.1226T>A (p.Met409Lys)
c.1127T>A (p.Met376Lys)
c.1115T>A (p.Met372Lys)
c.512T>A (p.Met171Lys)
19g.18069642T>ACA404778841IL12RB1c.1093A>T (p.Met365Leu)
c.1213A>T (p.Met405Leu)
c.1246A>T (p.Met416Leu)
c.1234A>T (p.Met412Leu)
c.1225A>T (p.Met409Leu)
c.1126A>T (p.Met376Leu)
c.1114A>T (p.Met372Leu)
c.511A>T (p.Met171Leu)
19g.18069642T>CCA9304963IL12RB1c.1093A>G (p.Met365Val)
c.1213A>G (p.Met405Val)
c.1246A>G (p.Met416Val)
c.1234A>G (p.Met412Val)
c.1225A>G (p.Met409Val)
c.1126A>G (p.Met376Val)
c.1114A>G (p.Met372Val)
c.511A>G (p.Met171Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18069642T>GCA404778843IL12RB1c.1093A>C (p.Met365Leu)
c.1213A>C (p.Met405Leu)
c.1246A>C (p.Met416Leu)
c.1234A>C (p.Met412Leu)
c.1225A>C (p.Met409Leu)
c.1126A>C (p.Met376Leu)
c.1114A>C (p.Met372Leu)
c.511A>C (p.Met171Leu)
19g.18069642T=CA2326169874IL12RB1c.1093A= (p.Met365=)
c.1213A= (p.Met405=)
c.1246A= (p.Met416=)
c.1234A= (p.Met412=)
c.1225A= (p.Met409=)
c.1126A= (p.Met376=)
c.1114A= (p.Met372=)
c.511A= (p.Met171=)
19g.18069643G>ACA506030223IL12RB1c.1092C>T (p.Ser364=)
c.1212C>T (p.Ser404=)
c.1245C>T (p.Ser415=)
c.1233C>T (p.Ser411=)
c.1224C>T (p.Ser408=)
c.1125C>T (p.Ser375=)
c.1113C>T (p.Ser371=)
c.510C>T (p.Ser170=)
 dbSNP gnomAD v2 gnomAD v4
19g.18069643G>CCA404778847IL12RB1c.1092C>G (p.Ser364Arg)
c.1212C>G (p.Ser404Arg)
c.1245C>G (p.Ser415Arg)
c.1233C>G (p.Ser411Arg)
c.1224C>G (p.Ser408Arg)
c.1125C>G (p.Ser375Arg)
c.1113C>G (p.Ser371Arg)
c.510C>G (p.Ser170Arg)
19g.18069643G=CA2326169875IL12RB1c.1092C= (p.Ser364=)
c.1212C= (p.Ser404=)
c.1245C= (p.Ser415=)
c.1233C= (p.Ser411=)
c.1224C= (p.Ser408=)
c.1125C= (p.Ser375=)
c.1113C= (p.Ser371=)
c.510C= (p.Ser170=)
19g.18069643G>TCA404778845IL12RB1c.1092C>A (p.Ser364Arg)
c.1212C>A (p.Ser404Arg)
c.1245C>A (p.Ser415Arg)
c.1233C>A (p.Ser411Arg)
c.1224C>A (p.Ser408Arg)
c.1125C>A (p.Ser375Arg)
c.1113C>A (p.Ser371Arg)
c.510C>A (p.Ser170Arg)
 gnomAD v4
19g.18069644C>ACA404778850IL12RB1c.1091G>T (p.Ser364Ile)
c.1211G>T (p.Ser404Ile)
c.1244G>T (p.Ser415Ile)
c.1232G>T (p.Ser411Ile)
c.1223G>T (p.Ser408Ile)
c.1124G>T (p.Ser375Ile)
c.1112G>T (p.Ser371Ile)
c.509G>T (p.Ser170Ile)
19g.18069644C>GCA404778854IL12RB1c.1091G>C (p.Ser364Thr)
c.1211G>C (p.Ser404Thr)
c.1244G>C (p.Ser415Thr)
c.1232G>C (p.Ser411Thr)
c.1223G>C (p.Ser408Thr)
c.1124G>C (p.Ser375Thr)
c.1112G>C (p.Ser371Thr)
c.509G>C (p.Ser170Thr)
19g.18069644C>TCA404778852IL12RB1c.1091G>A (p.Ser364Asn)
c.1211G>A (p.Ser404Asn)
c.1244G>A (p.Ser415Asn)
c.1232G>A (p.Ser411Asn)
c.1223G>A (p.Ser408Asn)
c.1124G>A (p.Ser375Asn)
c.1112G>A (p.Ser371Asn)
c.509G>A (p.Ser170Asn)
 gnomAD v4
19g.18069645T>ACA404778857IL12RB1c.1090A>T (p.Ser364Cys)
c.1210A>T (p.Ser404Cys)
c.1243A>T (p.Ser415Cys)
c.1231A>T (p.Ser411Cys)
c.1222A>T (p.Ser408Cys)
c.1123A>T (p.Ser375Cys)
c.1111A>T (p.Ser371Cys)
c.508A>T (p.Ser170Cys)
19g.18069645T>CCA404778858IL12RB1c.1090A>G (p.Ser364Gly)
c.1210A>G (p.Ser404Gly)
c.1243A>G (p.Ser415Gly)
c.1231A>G (p.Ser411Gly)
c.1222A>G (p.Ser408Gly)
c.1123A>G (p.Ser375Gly)
c.1111A>G (p.Ser371Gly)
c.508A>G (p.Ser170Gly)
19g.18069645T>GCA404778860IL12RB1c.1090A>C (p.Ser364Arg)
c.1210A>C (p.Ser404Arg)
c.1243A>C (p.Ser415Arg)
c.1231A>C (p.Ser411Arg)
c.1222A>C (p.Ser408Arg)
c.1123A>C (p.Ser375Arg)
c.1111A>C (p.Ser371Arg)
c.508A>C (p.Ser170Arg)
19g.18069646C>ACA404778863IL12RB1c.1089G>T (p.Gln363His)
c.1209G>T (p.Gln403His)
c.1242G>T (p.Gln414His)
c.1230G>T (p.Gln410His)
c.1221G>T (p.Gln407His)
c.1122G>T (p.Gln374His)
c.1110G>T (p.Gln370His)
c.507G>T (p.Gln169His)
19g.18069646C>GCA404778864IL12RB1c.1089G>C (p.Gln363His)
c.1209G>C (p.Gln403His)
c.1242G>C (p.Gln414His)
c.1230G>C (p.Gln410His)
c.1221G>C (p.Gln407His)
c.1122G>C (p.Gln374His)
c.1110G>C (p.Gln370His)
c.507G>C (p.Gln169His)
19g.18069646C>TCA506030233IL12RB1c.1089G>A (p.Gln363=)
c.1209G>A (p.Gln403=)
c.1242G>A (p.Gln414=)
c.1230G>A (p.Gln410=)
c.1221G>A (p.Gln407=)
c.1122G>A (p.Gln374=)
c.1110G>A (p.Gln370=)
c.507G>A (p.Gln169=)
 gnomAD v4
19g.18069647T>ACA404778866IL12RB1c.1088A>T (p.Gln363Leu)
c.1208A>T (p.Gln403Leu)
c.1241A>T (p.Gln414Leu)
c.1229A>T (p.Gln410Leu)
c.1220A>T (p.Gln407Leu)
c.1121A>T (p.Gln374Leu)
c.1109A>T (p.Gln370Leu)
c.506A>T (p.Gln169Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.18069647T>CCA306162859IL12RB1c.1088A>G (p.Gln363Arg)
c.1208A>G (p.Gln403Arg)
c.1241A>G (p.Gln414Arg)
c.1229A>G (p.Gln410Arg)
c.1220A>G (p.Gln407Arg)
c.1121A>G (p.Gln374Arg)
c.1109A>G (p.Gln370Arg)
c.506A>G (p.Gln169Arg)
 dbSNP gnomAD v4
19g.18069647T>GCA404778869IL12RB1c.1088A>C (p.Gln363Pro)
c.1208A>C (p.Gln403Pro)
c.1241A>C (p.Gln414Pro)
c.1229A>C (p.Gln410Pro)
c.1220A>C (p.Gln407Pro)
c.1121A>C (p.Gln374Pro)
c.1109A>C (p.Gln370Pro)
c.506A>C (p.Gln169Pro)
19g.18069647T=CA2326169876IL12RB1c.1088A= (p.Gln363=)
c.1208A= (p.Gln403=)
c.1241A= (p.Gln414=)
c.1229A= (p.Gln410=)
c.1220A= (p.Gln407=)
c.1121A= (p.Gln374=)
c.1109A= (p.Gln370=)
c.506A= (p.Gln169=)
19g.18069648G>ACA404778873IL12RB1c.1087C>T (p.Gln363Ter)
c.1207C>T (p.Gln403Ter)
c.1240C>T (p.Gln414Ter)
c.1228C>T (p.Gln410Ter)
c.1219C>T (p.Gln407Ter)
c.1120C>T (p.Gln374Ter)
c.1108C>T (p.Gln370Ter)
c.505C>T (p.Gln169Ter)
19g.18069648G>CCA404778874IL12RB1c.1087C>G (p.Gln363Glu)
c.1207C>G (p.Gln403Glu)
c.1240C>G (p.Gln414Glu)
c.1228C>G (p.Gln410Glu)
c.1219C>G (p.Gln407Glu)
c.1120C>G (p.Gln374Glu)
c.1108C>G (p.Gln370Glu)
c.505C>G (p.Gln169Glu)
19g.18069648G>TCA404778875IL12RB1c.1087C>A (p.Gln363Lys)
c.1207C>A (p.Gln403Lys)
c.1240C>A (p.Gln414Lys)
c.1228C>A (p.Gln410Lys)
c.1219C>A (p.Gln407Lys)
c.1120C>A (p.Gln374Lys)
c.1108C>A (p.Gln370Lys)
c.505C>A (p.Gln169Lys)
19g.18069649A>CCA506030238IL12RB1c.1086T>G (p.Ala362=)
c.1206T>G (p.Ala402=)
c.1239T>G (p.Ala413=)
c.1227T>G (p.Ala409=)
c.1218T>G (p.Ala406=)
c.1119T>G (p.Ala373=)
c.1107T>G (p.Ala369=)
c.504T>G (p.Ala168=)
19g.18069649A>GCA506030241IL12RB1c.1086T>C (p.Ala362=)
c.1206T>C (p.Ala402=)
c.1239T>C (p.Ala413=)
c.1227T>C (p.Ala409=)
c.1218T>C (p.Ala406=)
c.1119T>C (p.Ala373=)
c.1107T>C (p.Ala369=)
c.504T>C (p.Ala168=)
19g.18069649A>TCA506030242IL12RB1c.1086T>A (p.Ala362=)
c.1206T>A (p.Ala402=)
c.1239T>A (p.Ala413=)
c.1227T>A (p.Ala409=)
c.1218T>A (p.Ala406=)
c.1119T>A (p.Ala373=)
c.1107T>A (p.Ala369=)
c.504T>A (p.Ala168=)
19g.18069650G>ACA404778882IL12RB1c.1085C>T (p.Ala362Val)
c.1205C>T (p.Ala402Val)
c.1238C>T (p.Ala413Val)
c.1226C>T (p.Ala409Val)
c.1217C>T (p.Ala406Val)
c.1118C>T (p.Ala373Val)
c.1106C>T (p.Ala369Val)
c.503C>T (p.Ala168Val)
 ClinVar dbSNP
19g.18069650G>CCA404778881IL12RB1c.1085C>G (p.Ala362Gly)
c.1205C>G (p.Ala402Gly)
c.1238C>G (p.Ala413Gly)
c.1226C>G (p.Ala409Gly)
c.1217C>G (p.Ala406Gly)
c.1118C>G (p.Ala373Gly)
c.1106C>G (p.Ala369Gly)
c.503C>G (p.Ala168Gly)
19g.18069650G>TCA404778878IL12RB1c.1085C>A (p.Ala362Asp)
c.1205C>A (p.Ala402Asp)
c.1238C>A (p.Ala413Asp)
c.1226C>A (p.Ala409Asp)
c.1217C>A (p.Ala406Asp)
c.1118C>A (p.Ala373Asp)
c.1106C>A (p.Ala369Asp)
c.503C>A (p.Ala168Asp)
 gnomAD v4
19g.18069651C>ACA404778885IL12RB1c.1084G>T (p.Ala362Ser)
c.1204G>T (p.Ala402Ser)
c.1237G>T (p.Ala413Ser)
c.1225G>T (p.Ala409Ser)
c.1216G>T (p.Ala406Ser)
c.1117G>T (p.Ala373Ser)
c.1105G>T (p.Ala369Ser)
c.502G>T (p.Ala168Ser)
19g.18069651C>GCA404778887IL12RB1c.1084G>C (p.Ala362Pro)
c.1204G>C (p.Ala402Pro)
c.1237G>C (p.Ala413Pro)
c.1225G>C (p.Ala409Pro)
c.1216G>C (p.Ala406Pro)
c.1117G>C (p.Ala373Pro)
c.1105G>C (p.Ala369Pro)
c.502G>C (p.Ala168Pro)
19g.18069651C>TCA404778888IL12RB1c.1084G>A (p.Ala362Thr)
c.1204G>A (p.Ala402Thr)
c.1237G>A (p.Ala413Thr)
c.1225G>A (p.Ala409Thr)
c.1216G>A (p.Ala406Thr)
c.1117G>A (p.Ala373Thr)
c.1105G>A (p.Ala369Thr)
c.502G>A (p.Ala168Thr)
19g.18069652C>ACA506030245IL12RB1c.1083G>T (p.Arg361=)
c.1203G>T (p.Arg401=)
c.1236G>T (p.Arg412=)
c.1224G>T (p.Arg408=)
c.1215G>T (p.Arg405=)
c.1116G>T (p.Arg372=)
c.1104G>T (p.Arg368=)
c.501G>T (p.Arg167=)
19g.18069652C>GCA506030248IL12RB1c.1083G>C (p.Arg361=)
c.1203G>C (p.Arg401=)
c.1236G>C (p.Arg412=)
c.1224G>C (p.Arg408=)
c.1215G>C (p.Arg405=)
c.1116G>C (p.Arg372=)
c.1104G>C (p.Arg368=)
c.501G>C (p.Arg167=)
19g.18069652C>TCA506030250IL12RB1c.1083G>A (p.Arg361=)
c.1203G>A (p.Arg401=)
c.1236G>A (p.Arg412=)
c.1224G>A (p.Arg408=)
c.1215G>A (p.Arg405=)
c.1116G>A (p.Arg372=)
c.1104G>A (p.Arg368=)
c.501G>A (p.Arg167=)
 gnomAD v4
19g.18069653C>ACA404778891IL12RB1c.1082G>T (p.Arg361Leu)
c.1202G>T (p.Arg401Leu)
c.1235G>T (p.Arg412Leu)
c.1223G>T (p.Arg408Leu)
c.1214G>T (p.Arg405Leu)
c.1115G>T (p.Arg372Leu)
c.1103G>T (p.Arg368Leu)
c.500G>T (p.Arg167Leu)
19g.18069653C=CA2326169877IL12RB1c.1082G= (p.Arg361=)
c.1202G= (p.Arg401=)
c.1235G= (p.Arg412=)
c.1223G= (p.Arg408=)
c.1214G= (p.Arg405=)
c.1115G= (p.Arg372=)
c.1103G= (p.Arg368=)
c.500G= (p.Arg167=)
19g.18069653C>GCA404778893IL12RB1c.1082G>C (p.Arg361Pro)
c.1202G>C (p.Arg401Pro)
c.1235G>C (p.Arg412Pro)
c.1223G>C (p.Arg408Pro)
c.1214G>C (p.Arg405Pro)
c.1115G>C (p.Arg372Pro)
c.1103G>C (p.Arg368Pro)
c.500G>C (p.Arg167Pro)
19g.18069653C>TCA9304964IL12RB1c.1082G>A (p.Arg361Gln)
c.1202G>A (p.Arg401Gln)
c.1235G>A (p.Arg412Gln)
c.1223G>A (p.Arg408Gln)
c.1214G>A (p.Arg405Gln)
c.1115G>A (p.Arg372Gln)
c.1103G>A (p.Arg368Gln)
c.500G>A (p.Arg167Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069654G>ACA9304965IL12RB1c.1081C>T (p.Arg361Trp)
c.1201C>T (p.Arg401Trp)
c.1234C>T (p.Arg412Trp)
c.1222C>T (p.Arg408Trp)
c.1213C>T (p.Arg405Trp)
c.1114C>T (p.Arg372Trp)
c.1102C>T (p.Arg368Trp)
c.499C>T (p.Arg167Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18069654G>CCA9304966IL12RB1c.1081C>G (p.Arg361Gly)
c.1201C>G (p.Arg401Gly)
c.1234C>G (p.Arg412Gly)
c.1222C>G (p.Arg408Gly)
c.1213C>G (p.Arg405Gly)
c.1114C>G (p.Arg372Gly)
c.1102C>G (p.Arg368Gly)
c.499C>G (p.Arg167Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069654G=CA2326169878IL12RB1c.1081C= (p.Arg361=)
c.1201C= (p.Arg401=)
c.1234C= (p.Arg412=)
c.1222C= (p.Arg408=)
c.1213C= (p.Arg405=)
c.1114C= (p.Arg372=)
c.1102C= (p.Arg368=)
c.499C= (p.Arg167=)
19g.18069654G>TCA9304967IL12RB1c.1081C>A (p.Arg361=)
c.1201C>A (p.Arg401=)
c.1234C>A (p.Arg412=)
c.1222C>A (p.Arg408=)
c.1213C>A (p.Arg405=)
c.1114C>A (p.Arg372=)
c.1102C>A (p.Arg368=)
c.499C>A (p.Arg167=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069655G>ACA506030256IL12RB1c.1080C>T (p.Ala360=)
c.1200C>T (p.Ala400=)
c.1233C>T (p.Ala411=)
c.1221C>T (p.Ala407=)
c.1212C>T (p.Ala404=)
c.1113C>T (p.Ala371=)
c.1101C>T (p.Ala367=)
c.498C>T (p.Ala166=)
 dbSNP
19g.18069655G>CCA506030258IL12RB1c.1080C>G (p.Ala360=)
c.1200C>G (p.Ala400=)
c.1233C>G (p.Ala411=)
c.1221C>G (p.Ala407=)
c.1212C>G (p.Ala404=)
c.1113C>G (p.Ala371=)
c.1101C>G (p.Ala367=)
c.498C>G (p.Ala166=)
19g.18069655G=CA2326169879IL12RB1c.1080C= (p.Ala360=)
c.1200C= (p.Ala400=)
c.1233C= (p.Ala411=)
c.1221C= (p.Ala407=)
c.1212C= (p.Ala404=)
c.1113C= (p.Ala371=)
c.1101C= (p.Ala367=)
c.498C= (p.Ala166=)
19g.18069655G>TCA506030259IL12RB1c.1080C>A (p.Ala360=)
c.1200C>A (p.Ala400=)
c.1233C>A (p.Ala411=)
c.1221C>A (p.Ala407=)
c.1212C>A (p.Ala404=)
c.1113C>A (p.Ala371=)
c.1101C>A (p.Ala367=)
c.498C>A (p.Ala166=)
19g.18069656G>ACA306162869IL12RB1c.1079C>T (p.Ala360Val)
c.1199C>T (p.Ala400Val)
c.1232C>T (p.Ala411Val)
c.1220C>T (p.Ala407Val)
c.1211C>T (p.Ala404Val)
c.1112C>T (p.Ala371Val)
c.1100C>T (p.Ala367Val)
c.497C>T (p.Ala166Val)
 dbSNP gnomAD v2
19g.18069656G>CCA404778898IL12RB1c.1079C>G (p.Ala360Gly)
c.1199C>G (p.Ala400Gly)
c.1232C>G (p.Ala411Gly)
c.1220C>G (p.Ala407Gly)
c.1211C>G (p.Ala404Gly)
c.1112C>G (p.Ala371Gly)
c.1100C>G (p.Ala367Gly)
c.497C>G (p.Ala166Gly)
19g.18069656G=CA2326169880IL12RB1c.1079C= (p.Ala360=)
c.1199C= (p.Ala400=)
c.1232C= (p.Ala411=)
c.1220C= (p.Ala407=)
c.1211C= (p.Ala404=)
c.1112C= (p.Ala371=)
c.1100C= (p.Ala367=)
c.497C= (p.Ala166=)
19g.18069656G>TCA404778901IL12RB1c.1079C>A (p.Ala360Asp)
c.1199C>A (p.Ala400Asp)
c.1232C>A (p.Ala411Asp)
c.1220C>A (p.Ala407Asp)
c.1211C>A (p.Ala404Asp)
c.1112C>A (p.Ala371Asp)
c.1100C>A (p.Ala367Asp)
c.497C>A (p.Ala166Asp)
 gnomAD v4
19g.18069657C>ACA404778903IL12RB1c.1078G>T (p.Ala360Ser)
c.1198G>T (p.Ala400Ser)
c.1231G>T (p.Ala411Ser)
c.1219G>T (p.Ala407Ser)
c.1210G>T (p.Ala404Ser)
c.1111G>T (p.Ala371Ser)
c.1099G>T (p.Ala367Ser)
c.496G>T (p.Ala166Ser)
19g.18069657C>GCA404778907IL12RB1c.1078G>C (p.Ala360Pro)
c.1198G>C (p.Ala400Pro)
c.1231G>C (p.Ala411Pro)
c.1219G>C (p.Ala407Pro)
c.1210G>C (p.Ala404Pro)
c.1111G>C (p.Ala371Pro)
c.1099G>C (p.Ala367Pro)
c.496G>C (p.Ala166Pro)
19g.18069657C>TCA404778905IL12RB1c.1078G>A (p.Ala360Thr)
c.1198G>A (p.Ala400Thr)
c.1231G>A (p.Ala411Thr)
c.1219G>A (p.Ala407Thr)
c.1210G>A (p.Ala404Thr)
c.1111G>A (p.Ala371Thr)
c.1099G>A (p.Ala367Thr)
c.496G>A (p.Ala166Thr)
19g.18069658T>ACA506030262IL12RB1c.1077A>T (p.Pro359=)
c.1197A>T (p.Pro399=)
c.1230A>T (p.Pro410=)
c.1218A>T (p.Pro406=)
c.1209A>T (p.Pro403=)
c.1110A>T (p.Pro370=)
c.1098A>T (p.Pro366=)
c.495A>T (p.Pro165=)
19g.18069658T>CCA506030264IL12RB1c.1077A>G (p.Pro359=)
c.1197A>G (p.Pro399=)
c.1230A>G (p.Pro410=)
c.1218A>G (p.Pro406=)
c.1209A>G (p.Pro403=)
c.1110A>G (p.Pro370=)
c.1098A>G (p.Pro366=)
c.495A>G (p.Pro165=)
 gnomAD v4
19g.18069658T>GCA506030261IL12RB1c.1077A>C (p.Pro359=)
c.1197A>C (p.Pro399=)
c.1230A>C (p.Pro410=)
c.1218A>C (p.Pro406=)
c.1209A>C (p.Pro403=)
c.1110A>C (p.Pro370=)
c.1098A>C (p.Pro366=)
c.495A>C (p.Pro165=)
 gnomAD v4
19g.18069659G>ACA404778909IL12RB1c.1076C>T (p.Pro359Leu)
c.1196C>T (p.Pro399Leu)
c.1229C>T (p.Pro410Leu)
c.1217C>T (p.Pro406Leu)
c.1208C>T (p.Pro403Leu)
c.1109C>T (p.Pro370Leu)
c.1097C>T (p.Pro366Leu)
c.494C>T (p.Pro165Leu)
19g.18069659G>CCA404778913IL12RB1c.1076C>G (p.Pro359Arg)
c.1196C>G (p.Pro399Arg)
c.1229C>G (p.Pro410Arg)
c.1217C>G (p.Pro406Arg)
c.1208C>G (p.Pro403Arg)
c.1109C>G (p.Pro370Arg)
c.1097C>G (p.Pro366Arg)
c.494C>G (p.Pro165Arg)
19g.18069659G>TCA404778911IL12RB1c.1076C>A (p.Pro359Gln)
c.1196C>A (p.Pro399Gln)
c.1229C>A (p.Pro410Gln)
c.1217C>A (p.Pro406Gln)
c.1208C>A (p.Pro403Gln)
c.1109C>A (p.Pro370Gln)
c.1097C>A (p.Pro366Gln)
c.494C>A (p.Pro165Gln)
19g.18069660G>ACA404778915IL12RB1c.1075C>T (p.Pro359Ser)
c.1195C>T (p.Pro399Ser)
c.1228C>T (p.Pro410Ser)
c.1216C>T (p.Pro406Ser)
c.1207C>T (p.Pro403Ser)
c.1108C>T (p.Pro370Ser)
c.1096C>T (p.Pro366Ser)
c.493C>T (p.Pro165Ser)
 gnomAD v4
19g.18069660G>CCA404778920IL12RB1c.1075C>G (p.Pro359Ala)
c.1195C>G (p.Pro399Ala)
c.1228C>G (p.Pro410Ala)
c.1216C>G (p.Pro406Ala)
c.1207C>G (p.Pro403Ala)
c.1108C>G (p.Pro370Ala)
c.1096C>G (p.Pro366Ala)
c.493C>G (p.Pro165Ala)
 gnomAD v4
19g.18069660G=CA2326169881IL12RB1c.1075C= (p.Pro359=)
c.1195C= (p.Pro399=)
c.1228C= (p.Pro410=)
c.1216C= (p.Pro406=)
c.1207C= (p.Pro403=)
c.1108C= (p.Pro370=)
c.1096C= (p.Pro366=)
c.493C= (p.Pro165=)
19g.18069660G>TCA404778917IL12RB1c.1075C>A (p.Pro359Thr)
c.1195C>A (p.Pro399Thr)
c.1228C>A (p.Pro410Thr)
c.1216C>A (p.Pro406Thr)
c.1207C>A (p.Pro403Thr)
c.1108C>A (p.Pro370Thr)
c.1096C>A (p.Pro366Thr)
c.493C>A (p.Pro165Thr)
 dbSNP gnomAD v4
19g.18069661C>ACA404778922IL12RB1c.1074G>T (p.Trp358Cys)
c.1194G>T (p.Trp398Cys)
c.1227G>T (p.Trp409Cys)
c.1215G>T (p.Trp405Cys)
c.1206G>T (p.Trp402Cys)
c.1107G>T (p.Trp369Cys)
c.1095G>T (p.Trp365Cys)
c.492G>T (p.Trp164Cys)
19g.18069661C>GCA404778924IL12RB1c.1074G>C (p.Trp358Cys)
c.1194G>C (p.Trp398Cys)
c.1227G>C (p.Trp409Cys)
c.1215G>C (p.Trp405Cys)
c.1206G>C (p.Trp402Cys)
c.1107G>C (p.Trp369Cys)
c.1095G>C (p.Trp365Cys)
c.492G>C (p.Trp164Cys)
19g.18069661C>TCA404778926IL12RB1c.1074G>A (p.Trp358Ter)
c.1194G>A (p.Trp398Ter)
c.1227G>A (p.Trp409Ter)
c.1215G>A (p.Trp405Ter)
c.1206G>A (p.Trp402Ter)
c.1107G>A (p.Trp369Ter)
c.1095G>A (p.Trp365Ter)
c.492G>A (p.Trp164Ter)
 gnomAD v4
19g.18069662C>ACA404778929IL12RB1c.1073G>T (p.Trp358Leu)
c.1193G>T (p.Trp398Leu)
c.1226G>T (p.Trp409Leu)
c.1214G>T (p.Trp405Leu)
c.1205G>T (p.Trp402Leu)
c.1106G>T (p.Trp369Leu)
c.1094G>T (p.Trp365Leu)
c.491G>T (p.Trp164Leu)
19g.18069662C>GCA404778931IL12RB1c.1073G>C (p.Trp358Ser)
c.1193G>C (p.Trp398Ser)
c.1226G>C (p.Trp409Ser)
c.1214G>C (p.Trp405Ser)
c.1205G>C (p.Trp402Ser)
c.1106G>C (p.Trp369Ser)
c.1094G>C (p.Trp365Ser)
c.491G>C (p.Trp164Ser)
19g.18069662C>TCA404778933IL12RB1c.1073G>A (p.Trp358Ter)
c.1193G>A (p.Trp398Ter)
c.1226G>A (p.Trp409Ter)
c.1214G>A (p.Trp405Ter)
c.1205G>A (p.Trp402Ter)
c.1106G>A (p.Trp369Ter)
c.1094G>A (p.Trp365Ter)
c.491G>A (p.Trp164Ter)
19g.18069663A>CCA404778935IL12RB1c.1072T>G (p.Trp358Gly)
c.1192T>G (p.Trp398Gly)
c.1225T>G (p.Trp409Gly)
c.1213T>G (p.Trp405Gly)
c.1204T>G (p.Trp402Gly)
c.1105T>G (p.Trp369Gly)
c.1093T>G (p.Trp365Gly)
c.490T>G (p.Trp164Gly)
19g.18069663A>GCA404778937IL12RB1c.1072T>C (p.Trp358Arg)
c.1192T>C (p.Trp398Arg)
c.1225T>C (p.Trp409Arg)
c.1213T>C (p.Trp405Arg)
c.1204T>C (p.Trp402Arg)
c.1105T>C (p.Trp369Arg)
c.1093T>C (p.Trp365Arg)
c.490T>C (p.Trp164Arg)
19g.18069663A>TCA404778939IL12RB1c.1072T>A (p.Trp358Arg)
c.1192T>A (p.Trp398Arg)
c.1225T>A (p.Trp409Arg)
c.1213T>A (p.Trp405Arg)
c.1204T>A (p.Trp402Arg)
c.1105T>A (p.Trp369Arg)
c.1093T>A (p.Trp365Arg)
c.490T>A (p.Trp164Arg)
19g.18069664A=CA2326169882IL12RB1c.1071T= (p.Tyr357=)
c.1191T= (p.Tyr397=)
c.1224T= (p.Tyr408=)
c.1212T= (p.Tyr404=)
c.1203T= (p.Tyr401=)
c.1104T= (p.Tyr368=)
c.1092T= (p.Tyr364=)
c.489T= (p.Tyr163=)
19g.18069664A>CCA404778941IL12RB1c.1071T>G (p.Tyr357Ter)
c.1191T>G (p.Tyr397Ter)
c.1224T>G (p.Tyr408Ter)
c.1212T>G (p.Tyr404Ter)
c.1203T>G (p.Tyr401Ter)
c.1104T>G (p.Tyr368Ter)
c.1092T>G (p.Tyr364Ter)
c.489T>G (p.Tyr163Ter)
 dbSNP gnomAD v3 gnomAD v4
19g.18069664A>GCA506030273IL12RB1c.1071T>C (p.Tyr357=)
c.1191T>C (p.Tyr397=)
c.1224T>C (p.Tyr408=)
c.1212T>C (p.Tyr404=)
c.1203T>C (p.Tyr401=)
c.1104T>C (p.Tyr368=)
c.1092T>C (p.Tyr364=)
c.489T>C (p.Tyr163=)
19g.18069664A>TCA404778942IL12RB1c.1071T>A (p.Tyr357Ter)
c.1191T>A (p.Tyr397Ter)
c.1224T>A (p.Tyr408Ter)
c.1212T>A (p.Tyr404Ter)
c.1203T>A (p.Tyr401Ter)
c.1104T>A (p.Tyr368Ter)
c.1092T>A (p.Tyr364Ter)
c.489T>A (p.Tyr163Ter)
19g.18069665T>ACA404778944IL12RB1c.1070A>T (p.Tyr357Phe)
c.1190A>T (p.Tyr397Phe)
c.1223A>T (p.Tyr408Phe)
c.1211A>T (p.Tyr404Phe)
c.1202A>T (p.Tyr401Phe)
c.1103A>T (p.Tyr368Phe)
c.1091A>T (p.Tyr364Phe)
c.488A>T (p.Tyr163Phe)
19g.18069665T>CCA9304968IL12RB1c.1070A>G (p.Tyr357Cys)
c.1190A>G (p.Tyr397Cys)
c.1223A>G (p.Tyr408Cys)
c.1211A>G (p.Tyr404Cys)
c.1202A>G (p.Tyr401Cys)
c.1103A>G (p.Tyr368Cys)
c.1091A>G (p.Tyr364Cys)
c.488A>G (p.Tyr163Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18069665T>GCA404778946IL12RB1c.1070A>C (p.Tyr357Ser)
c.1190A>C (p.Tyr397Ser)
c.1223A>C (p.Tyr408Ser)
c.1211A>C (p.Tyr404Ser)
c.1202A>C (p.Tyr401Ser)
c.1103A>C (p.Tyr368Ser)
c.1091A>C (p.Tyr364Ser)
c.488A>C (p.Tyr163Ser)
19g.18069665T=CA2326169883IL12RB1c.1070A= (p.Tyr357=)
c.1190A= (p.Tyr397=)
c.1223A= (p.Tyr408=)
c.1211A= (p.Tyr404=)
c.1202A= (p.Tyr401=)
c.1103A= (p.Tyr368=)
c.1091A= (p.Tyr364=)
c.488A= (p.Tyr163=)
19g.18069666A=CA2326169884IL12RB1c.1069T= (p.Tyr357=)
c.1189T= (p.Tyr397=)
c.1222T= (p.Tyr408=)
c.1210T= (p.Tyr404=)
c.1201T= (p.Tyr401=)
c.1102T= (p.Tyr368=)
c.1090T= (p.Tyr364=)
c.487T= (p.Tyr163=)
19g.18069666A>CCA404778949IL12RB1c.1069T>G (p.Tyr357Asp)
c.1189T>G (p.Tyr397Asp)
c.1222T>G (p.Tyr408Asp)
c.1210T>G (p.Tyr404Asp)
c.1201T>G (p.Tyr401Asp)
c.1102T>G (p.Tyr368Asp)
c.1090T>G (p.Tyr364Asp)
c.487T>G (p.Tyr163Asp)
19g.18069666A>GCA9304969IL12RB1c.1069T>C (p.Tyr357His)
c.1189T>C (p.Tyr397His)
c.1222T>C (p.Tyr408His)
c.1210T>C (p.Tyr404His)
c.1201T>C (p.Tyr401His)
c.1102T>C (p.Tyr368His)
c.1090T>C (p.Tyr364His)
c.487T>C (p.Tyr163His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069666A>TCA404778952IL12RB1c.1069T>A (p.Tyr357Asn)
c.1189T>A (p.Tyr397Asn)
c.1222T>A (p.Tyr408Asn)
c.1210T>A (p.Tyr404Asn)
c.1201T>A (p.Tyr401Asn)
c.1102T>A (p.Tyr368Asn)
c.1090T>A (p.Tyr364Asn)
c.487T>A (p.Tyr163Asn)
19g.18069667C>ACA404778954IL12RB1c.1068G>T (p.Met356Ile)
c.1188G>T (p.Met396Ile)
c.1221G>T (p.Met407Ile)
c.1209G>T (p.Met403Ile)
c.1200G>T (p.Met400Ile)
c.1101G>T (p.Met367Ile)
c.1089G>T (p.Met363Ile)
c.486G>T (p.Met162Ile)
19g.18069667C=CA2326169885IL12RB1c.1068G= (p.Met356=)
c.1188G= (p.Met396=)
c.1221G= (p.Met407=)
c.1209G= (p.Met403=)
c.1200G= (p.Met400=)
c.1101G= (p.Met367=)
c.1089G= (p.Met363=)
c.486G= (p.Met162=)
19g.18069667C>GCA9304970IL12RB1c.1068G>C (p.Met356Ile)
c.1188G>C (p.Met396Ile)
c.1221G>C (p.Met407Ile)
c.1209G>C (p.Met403Ile)
c.1200G>C (p.Met400Ile)
c.1101G>C (p.Met367Ile)
c.1089G>C (p.Met363Ile)
c.486G>C (p.Met162Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18069667C>TCA404778957IL12RB1c.1068G>A (p.Met356Ile)
c.1188G>A (p.Met396Ile)
c.1221G>A (p.Met407Ile)
c.1209G>A (p.Met403Ile)
c.1200G>A (p.Met400Ile)
c.1101G>A (p.Met367Ile)
c.1089G>A (p.Met363Ile)
c.486G>A (p.Met162Ile)
19g.18069668A=CA2326169886IL12RB1c.1067T= (p.Met356=)
c.1187T= (p.Met396=)
c.1220T= (p.Met407=)
c.1208T= (p.Met403=)
c.1199T= (p.Met400=)
c.1100T= (p.Met367=)
c.1088T= (p.Met363=)
c.485T= (p.Met162=)
19g.18069668A>CCA404778959IL12RB1c.1067T>G (p.Met356Arg)
c.1187T>G (p.Met396Arg)
c.1220T>G (p.Met407Arg)
c.1208T>G (p.Met403Arg)
c.1199T>G (p.Met400Arg)
c.1100T>G (p.Met367Arg)
c.1088T>G (p.Met363Arg)
c.485T>G (p.Met162Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.18069668A>GCA404778961IL12RB1c.1067T>C (p.Met356Thr)
c.1187T>C (p.Met396Thr)
c.1220T>C (p.Met407Thr)
c.1208T>C (p.Met403Thr)
c.1199T>C (p.Met400Thr)
c.1100T>C (p.Met367Thr)
c.1088T>C (p.Met363Thr)
c.485T>C (p.Met162Thr)
19g.18069668A>TCA404778964IL12RB1c.1067T>A (p.Met356Lys)
c.1187T>A (p.Met396Lys)
c.1220T>A (p.Met407Lys)
c.1208T>A (p.Met403Lys)
c.1199T>A (p.Met400Lys)
c.1100T>A (p.Met367Lys)
c.1088T>A (p.Met363Lys)
c.485T>A (p.Met162Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.18069669T>ACA404778968IL12RB1c.1066A>T (p.Met356Leu)
c.1186A>T (p.Met396Leu)
c.1219A>T (p.Met407Leu)
c.1207A>T (p.Met403Leu)
c.1198A>T (p.Met400Leu)
c.1099A>T (p.Met367Leu)
c.1087A>T (p.Met363Leu)
c.484A>T (p.Met162Leu)
19g.18069669T>CCA404778970IL12RB1c.1066A>G (p.Met356Val)
c.1186A>G (p.Met396Val)
c.1219A>G (p.Met407Val)
c.1207A>G (p.Met403Val)
c.1198A>G (p.Met400Val)
c.1099A>G (p.Met367Val)
c.1087A>G (p.Met363Val)
c.484A>G (p.Met162Val)
 dbSNP gnomAD v2 gnomAD v4
19g.18069669T>GCA404778966IL12RB1c.1066A>C (p.Met356Leu)
c.1186A>C (p.Met396Leu)
c.1219A>C (p.Met407Leu)
c.1207A>C (p.Met403Leu)
c.1198A>C (p.Met400Leu)
c.1099A>C (p.Met367Leu)
c.1087A>C (p.Met363Leu)
c.484A>C (p.Met162Leu)
19g.18069669T=CA2326169887IL12RB1c.1066A= (p.Met356=)
c.1186A= (p.Met396=)
c.1219A= (p.Met407=)
c.1207A= (p.Met403=)
c.1198A= (p.Met400=)
c.1099A= (p.Met367=)
c.1087A= (p.Met363=)
c.484A= (p.Met162=)
19g.18069673_18069675delCA2580613090IL12RB1c.1064_1066del (p.Thr355del)
c.1184_1186del (p.Thr395del)
c.1217_1219del (p.Thr406del)
c.1205_1207del (p.Thr402del)
c.1196_1198del (p.Thr399del)
c.1097_1099del (p.Thr366del)
c.1085_1087del (p.Thr362del)
c.482_484del (p.Thr161del)
 ClinVar dbSNP
19g.18069670G>ACA506030285IL12RB1c.1065C>T (p.Thr355=)
c.1185C>T (p.Thr395=)
c.1218C>T (p.Thr406=)
c.1206C>T (p.Thr402=)
c.1197C>T (p.Thr399=)
c.1098C>T (p.Thr366=)
c.1086C>T (p.Thr362=)
c.483C>T (p.Thr161=)
19g.18069670G>CCA506030286IL12RB1c.1065C>G (p.Thr355=)
c.1185C>G (p.Thr395=)
c.1218C>G (p.Thr406=)
c.1206C>G (p.Thr402=)
c.1197C>G (p.Thr399=)
c.1098C>G (p.Thr366=)
c.1086C>G (p.Thr362=)
c.483C>G (p.Thr161=)
19g.18069670G>TCA506030287IL12RB1c.1065C>A (p.Thr355=)
c.1185C>A (p.Thr395=)
c.1218C>A (p.Thr406=)
c.1206C>A (p.Thr402=)
c.1197C>A (p.Thr399=)
c.1098C>A (p.Thr366=)
c.1086C>A (p.Thr362=)
c.483C>A (p.Thr161=)
 gnomAD v4
19g.18069671delCA2583510287IL12RB1c.1065del (p.Met356CysfsTer10)
c.1185del (p.Met396CysfsTer10)
c.1218del (p.Met407CysfsTer10)
c.1206del (p.Met403CysfsTer10)
c.1197del (p.Met400CysfsTer10)
c.1098del (p.Met367CysfsTer10)
c.1086del (p.Met363CysfsTer10)
c.483del (p.Met162CysfsTer10)
 gnomAD v4
19g.18069671G>ACA404778972IL12RB1c.1064C>T (p.Thr355Ile)
c.1184C>T (p.Thr395Ile)
c.1217C>T (p.Thr406Ile)
c.1205C>T (p.Thr402Ile)
c.1196C>T (p.Thr399Ile)
c.1097C>T (p.Thr366Ile)
c.1085C>T (p.Thr362Ile)
c.482C>T (p.Thr161Ile)
19g.18069671G>CCA404778974IL12RB1c.1064C>G (p.Thr355Ser)
c.1184C>G (p.Thr395Ser)
c.1217C>G (p.Thr406Ser)
c.1205C>G (p.Thr402Ser)
c.1196C>G (p.Thr399Ser)
c.1097C>G (p.Thr366Ser)
c.1085C>G (p.Thr362Ser)
c.482C>G (p.Thr161Ser)
 gnomAD v4
19g.18069671G>TCA404778976IL12RB1c.1064C>A (p.Thr355Asn)
c.1184C>A (p.Thr395Asn)
c.1217C>A (p.Thr406Asn)
c.1205C>A (p.Thr402Asn)
c.1196C>A (p.Thr399Asn)
c.1097C>A (p.Thr366Asn)
c.1085C>A (p.Thr362Asn)
c.482C>A (p.Thr161Asn)
19g.18069672T>ACA404778979IL12RB1c.1063A>T (p.Thr355Ser)
c.1183A>T (p.Thr395Ser)
c.1216A>T (p.Thr406Ser)
c.1204A>T (p.Thr402Ser)
c.1195A>T (p.Thr399Ser)
c.1096A>T (p.Thr366Ser)
c.1084A>T (p.Thr362Ser)
c.481A>T (p.Thr161Ser)
19g.18069672T>CCA404778981IL12RB1c.1063A>G (p.Thr355Ala)
c.1183A>G (p.Thr395Ala)
c.1216A>G (p.Thr406Ala)
c.1204A>G (p.Thr402Ala)
c.1195A>G (p.Thr399Ala)
c.1096A>G (p.Thr366Ala)
c.1084A>G (p.Thr362Ala)
c.481A>G (p.Thr161Ala)
19g.18069672T>GCA404778982IL12RB1c.1063A>C (p.Thr355Pro)
c.1183A>C (p.Thr395Pro)
c.1216A>C (p.Thr406Pro)
c.1204A>C (p.Thr402Pro)
c.1195A>C (p.Thr399Pro)
c.1096A>C (p.Thr366Pro)
c.1084A>C (p.Thr362Pro)
c.481A>C (p.Thr161Pro)
 dbSNP
19g.18069672T=CA2326169888IL12RB1c.1063A= (p.Thr355=)
c.1183A= (p.Thr395=)
c.1216A= (p.Thr406=)
c.1204A= (p.Thr402=)
c.1195A= (p.Thr399=)
c.1096A= (p.Thr366=)
c.1084A= (p.Thr362=)
c.481A= (p.Thr161=)
19g.18069673G>ACA9304971IL12RB1c.1062C>T (p.Thr354=)
c.1182C>T (p.Thr394=)
c.1215C>T (p.Thr405=)
c.1203C>T (p.Thr401=)
c.1194C>T (p.Thr398=)
c.1095C>T (p.Thr365=)
c.1083C>T (p.Thr361=)
c.480C>T (p.Thr160=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18069673G>CCA506030293IL12RB1c.1062C>G (p.Thr354=)
c.1182C>G (p.Thr394=)
c.1215C>G (p.Thr405=)
c.1203C>G (p.Thr401=)
c.1194C>G (p.Thr398=)
c.1095C>G (p.Thr365=)
c.1083C>G (p.Thr361=)
c.480C>G (p.Thr160=)
19g.18069673G=CA2326169889IL12RB1c.1062C= (p.Thr354=)
c.1182C= (p.Thr394=)
c.1215C= (p.Thr405=)
c.1203C= (p.Thr401=)
c.1194C= (p.Thr398=)
c.1095C= (p.Thr365=)
c.1083C= (p.Thr361=)
c.480C= (p.Thr160=)
19g.18069673G>TCA506030294IL12RB1c.1062C>A (p.Thr354=)
c.1182C>A (p.Thr394=)
c.1215C>A (p.Thr405=)
c.1203C>A (p.Thr401=)
c.1194C>A (p.Thr398=)
c.1095C>A (p.Thr365=)
c.1083C>A (p.Thr361=)
c.480C>A (p.Thr160=)
19g.18069674G>ACA404778986IL12RB1c.1061C>T (p.Thr354Ile)
c.1181C>T (p.Thr394Ile)
c.1214C>T (p.Thr405Ile)
c.1202C>T (p.Thr401Ile)
c.1193C>T (p.Thr398Ile)
c.1094C>T (p.Thr365Ile)
c.1082C>T (p.Thr361Ile)
c.479C>T (p.Thr160Ile)
19g.18069674G>CCA404778988IL12RB1c.1061C>G (p.Thr354Ser)
c.1181C>G (p.Thr394Ser)
c.1214C>G (p.Thr405Ser)
c.1202C>G (p.Thr401Ser)
c.1193C>G (p.Thr398Ser)
c.1094C>G (p.Thr365Ser)
c.1082C>G (p.Thr361Ser)
c.479C>G (p.Thr160Ser)
19g.18069674G>TCA404778990IL12RB1c.1061C>A (p.Thr354Asn)
c.1181C>A (p.Thr394Asn)
c.1214C>A (p.Thr405Asn)
c.1202C>A (p.Thr401Asn)
c.1193C>A (p.Thr398Asn)
c.1094C>A (p.Thr365Asn)
c.1082C>A (p.Thr361Asn)
c.479C>A (p.Thr160Asn)
 gnomAD v4
19g.18069675T>ACA404778995IL12RB1c.1060A>T (p.Thr354Ser)
c.1180A>T (p.Thr394Ser)
c.1213A>T (p.Thr405Ser)
c.1201A>T (p.Thr401Ser)
c.1192A>T (p.Thr398Ser)
c.1093A>T (p.Thr365Ser)
c.1081A>T (p.Thr361Ser)
c.478A>T (p.Thr160Ser)
19g.18069675T>CCA404778996IL12RB1c.1060A>G (p.Thr354Ala)
c.1180A>G (p.Thr394Ala)
c.1213A>G (p.Thr405Ala)
c.1201A>G (p.Thr401Ala)
c.1192A>G (p.Thr398Ala)
c.1093A>G (p.Thr365Ala)
c.1081A>G (p.Thr361Ala)
c.478A>G (p.Thr160Ala)
19g.18069675T>GCA404778998IL12RB1c.1060A>C (p.Thr354Pro)
c.1180A>C (p.Thr394Pro)
c.1213A>C (p.Thr405Pro)
c.1201A>C (p.Thr401Pro)
c.1192A>C (p.Thr398Pro)
c.1093A>C (p.Thr365Pro)
c.1081A>C (p.Thr361Pro)
c.478A>C (p.Thr160Pro)
19g.18069676C>ACA506030296IL12RB1c.1059G>T (p.Gly353=)
c.1179G>T (p.Gly393=)
c.1212G>T (p.Gly404=)
c.1200G>T (p.Gly400=)
c.1191G>T (p.Gly397=)
c.1092G>T (p.Gly364=)
c.1080G>T (p.Gly360=)
c.477G>T (p.Gly159=)
 gnomAD v4
19g.18069676C=CA2326169890IL12RB1c.1059G= (p.Gly353=)
c.1179G= (p.Gly393=)
c.1212G= (p.Gly404=)
c.1200G= (p.Gly400=)
c.1191G= (p.Gly397=)
c.1092G= (p.Gly364=)
c.1080G= (p.Gly360=)
c.477G= (p.Gly159=)
19g.18069676C>GCA506030298IL12RB1c.1059G>C (p.Gly353=)
c.1179G>C (p.Gly393=)
c.1212G>C (p.Gly404=)
c.1200G>C (p.Gly400=)
c.1191G>C (p.Gly397=)
c.1092G>C (p.Gly364=)
c.1080G>C (p.Gly360=)
c.477G>C (p.Gly159=)
19g.18069676C>TCA506030300IL12RB1c.1059G>A (p.Gly353=)
c.1179G>A (p.Gly393=)
c.1212G>A (p.Gly404=)
c.1200G>A (p.Gly400=)
c.1191G>A (p.Gly397=)
c.1092G>A (p.Gly364=)
c.1080G>A (p.Gly360=)
c.477G>A (p.Gly159=)
 dbSNP gnomAD v2 gnomAD v4
19g.18069677C>ACA404779000IL12RB1c.1058G>T (p.Gly353Val)
c.1178G>T (p.Gly393Val)
c.1211G>T (p.Gly404Val)
c.1199G>T (p.Gly400Val)
c.1190G>T (p.Gly397Val)
c.1091G>T (p.Gly364Val)
c.1079G>T (p.Gly360Val)
c.476G>T (p.Gly159Val)
19g.18069677C=CA2326169891IL12RB1c.1058G= (p.Gly353=)
c.1178G= (p.Gly393=)
c.1211G= (p.Gly404=)
c.1199G= (p.Gly400=)
c.1190G= (p.Gly397=)
c.1091G= (p.Gly364=)
c.1079G= (p.Gly360=)
c.476G= (p.Gly159=)
19g.18069677C>GCA404779004IL12RB1c.1058G>C (p.Gly353Ala)
c.1178G>C (p.Gly393Ala)
c.1211G>C (p.Gly404Ala)
c.1199G>C (p.Gly400Ala)
c.1190G>C (p.Gly397Ala)
c.1091G>C (p.Gly364Ala)
c.1079G>C (p.Gly360Ala)
c.476G>C (p.Gly159Ala)
19g.18069677C>TCA9304972IL12RB1c.1058G>A (p.Gly353Glu)
c.1178G>A (p.Gly393Glu)
c.1211G>A (p.Gly404Glu)
c.1199G>A (p.Gly400Glu)
c.1190G>A (p.Gly397Glu)
c.1091G>A (p.Gly364Glu)
c.1079G>A (p.Gly360Glu)
c.476G>A (p.Gly159Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069678C>ACA404779006IL12RB1c.1057G>T (p.Gly353Trp)
c.1177G>T (p.Gly393Trp)
c.1210G>T (p.Gly404Trp)
c.1198G>T (p.Gly400Trp)
c.1189G>T (p.Gly397Trp)
c.1090G>T (p.Gly364Trp)
c.1078G>T (p.Gly360Trp)
c.475G>T (p.Gly159Trp)
 dbSNP gnomAD v4
19g.18069678C=CA2326169892IL12RB1c.1057G= (p.Gly353=)
c.1177G= (p.Gly393=)
c.1210G= (p.Gly404=)
c.1198G= (p.Gly400=)
c.1189G= (p.Gly397=)
c.1090G= (p.Gly364=)
c.1078G= (p.Gly360=)
c.475G= (p.Gly159=)
19g.18069678C>GCA404779007IL12RB1c.1057G>C (p.Gly353Arg)
c.1177G>C (p.Gly393Arg)
c.1210G>C (p.Gly404Arg)
c.1198G>C (p.Gly400Arg)
c.1189G>C (p.Gly397Arg)
c.1090G>C (p.Gly364Arg)
c.1078G>C (p.Gly360Arg)
c.475G>C (p.Gly159Arg)
19g.18069678C>TCA404779010IL12RB1c.1057G>A (p.Gly353Arg)
c.1177G>A (p.Gly393Arg)
c.1210G>A (p.Gly404Arg)
c.1198G>A (p.Gly400Arg)
c.1189G>A (p.Gly397Arg)
c.1090G>A (p.Gly364Arg)
c.1078G>A (p.Gly360Arg)
c.475G>A (p.Gly159Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.18069679G>ACA9304973IL12RB1c.1056C>T (p.Asn352=)
c.1176C>T (p.Asn392=)
c.1209C>T (p.Asn403=)
c.1197C>T (p.Asn399=)
c.1188C>T (p.Asn396=)
c.1089C>T (p.Asn363=)
c.1077C>T (p.Asn359=)
c.474C>T (p.Asn158=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069679G>CCA9304974IL12RB1c.1056C>G (p.Asn352Lys)
c.1176C>G (p.Asn392Lys)
c.1209C>G (p.Asn403Lys)
c.1197C>G (p.Asn399Lys)
c.1188C>G (p.Asn396Lys)
c.1089C>G (p.Asn363Lys)
c.1077C>G (p.Asn359Lys)
c.474C>G (p.Asn158Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18069679G=CA2326169893IL12RB1c.1056C= (p.Asn352=)
c.1176C= (p.Asn392=)
c.1209C= (p.Asn403=)
c.1197C= (p.Asn399=)
c.1188C= (p.Asn396=)
c.1089C= (p.Asn363=)
c.1077C= (p.Asn359=)
c.474C= (p.Asn158=)
19g.18069679G>TCA404779014IL12RB1c.1056C>A (p.Asn352Lys)
c.1176C>A (p.Asn392Lys)
c.1209C>A (p.Asn403Lys)
c.1197C>A (p.Asn399Lys)
c.1188C>A (p.Asn396Lys)
c.1089C>A (p.Asn363Lys)
c.1077C>A (p.Asn359Lys)
c.474C>A (p.Asn158Lys)
 dbSNP gnomAD v4
19g.18069680T>ACA404779016IL12RB1c.1055A>T (p.Asn352Ile)
c.1175A>T (p.Asn392Ile)
c.1208A>T (p.Asn403Ile)
c.1196A>T (p.Asn399Ile)
c.1187A>T (p.Asn396Ile)
c.1088A>T (p.Asn363Ile)
c.1076A>T (p.Asn359Ile)
c.473A>T (p.Asn158Ile)
19g.18069680T>CCA404779018IL12RB1c.1055A>G (p.Asn352Ser)
c.1175A>G (p.Asn392Ser)
c.1208A>G (p.Asn403Ser)
c.1196A>G (p.Asn399Ser)
c.1187A>G (p.Asn396Ser)
c.1088A>G (p.Asn363Ser)
c.1076A>G (p.Asn359Ser)
c.473A>G (p.Asn158Ser)
 gnomAD v4
19g.18069680T>GCA404779020IL12RB1c.1055A>C (p.Asn352Thr)
c.1175A>C (p.Asn392Thr)
c.1208A>C (p.Asn403Thr)
c.1196A>C (p.Asn399Thr)
c.1187A>C (p.Asn396Thr)
c.1088A>C (p.Asn363Thr)
c.1076A>C (p.Asn359Thr)
c.473A>C (p.Asn158Thr)
19g.18069681T>ACA404779022IL12RB1c.1054A>T (p.Asn352Tyr)
c.1174A>T (p.Asn392Tyr)
c.1207A>T (p.Asn403Tyr)
c.1195A>T (p.Asn399Tyr)
c.1186A>T (p.Asn396Tyr)
c.1087A>T (p.Asn363Tyr)
c.1075A>T (p.Asn359Tyr)
c.472A>T (p.Asn158Tyr)
 gnomAD v4
19g.18069681T>CCA404779024IL12RB1c.1054A>G (p.Asn352Asp)
c.1174A>G (p.Asn392Asp)
c.1207A>G (p.Asn403Asp)
c.1195A>G (p.Asn399Asp)
c.1186A>G (p.Asn396Asp)
c.1087A>G (p.Asn363Asp)
c.1075A>G (p.Asn359Asp)
c.472A>G (p.Asn158Asp)
19g.18069681T>GCA404779026IL12RB1c.1054A>C (p.Asn352His)
c.1174A>C (p.Asn392His)
c.1207A>C (p.Asn403His)
c.1195A>C (p.Asn399His)
c.1186A>C (p.Asn396His)
c.1087A>C (p.Asn363His)
c.1075A>C (p.Asn359His)
c.472A>C (p.Asn158His)
19g.18069682G>ACA506030310IL12RB1c.1053C>T (p.Thr351=)
c.1173C>T (p.Thr391=)
c.1206C>T (p.Thr402=)
c.1194C>T (p.Thr398=)
c.1185C>T (p.Thr395=)
c.1086C>T (p.Thr362=)
c.1074C>T (p.Thr358=)
c.471C>T (p.Thr157=)
19g.18069682G>CCA506030309IL12RB1c.1053C>G (p.Thr351=)
c.1173C>G (p.Thr391=)
c.1206C>G (p.Thr402=)
c.1194C>G (p.Thr398=)
c.1185C>G (p.Thr395=)
c.1086C>G (p.Thr362=)
c.1074C>G (p.Thr358=)
c.471C>G (p.Thr157=)
19g.18069682G>TCA506030308IL12RB1c.1053C>A (p.Thr351=)
c.1173C>A (p.Thr391=)
c.1206C>A (p.Thr402=)
c.1194C>A (p.Thr398=)
c.1185C>A (p.Thr395=)
c.1086C>A (p.Thr362=)
c.1074C>A (p.Thr358=)
c.471C>A (p.Thr157=)
19g.18069683G>ACA404779031IL12RB1c.1052C>T (p.Thr351Ile)
c.1172C>T (p.Thr391Ile)
c.1205C>T (p.Thr402Ile)
c.1193C>T (p.Thr398Ile)
c.1184C>T (p.Thr395Ile)
c.1085C>T (p.Thr362Ile)
c.1073C>T (p.Thr358Ile)
c.470C>T (p.Thr157Ile)
19g.18069683G>CCA404779033IL12RB1c.1052C>G (p.Thr351Ser)
c.1172C>G (p.Thr391Ser)
c.1205C>G (p.Thr402Ser)
c.1193C>G (p.Thr398Ser)
c.1184C>G (p.Thr395Ser)
c.1085C>G (p.Thr362Ser)
c.1073C>G (p.Thr358Ser)
c.470C>G (p.Thr157Ser)
19g.18069683G>TCA404779028IL12RB1c.1052C>A (p.Thr351Asn)
c.1172C>A (p.Thr391Asn)
c.1205C>A (p.Thr402Asn)
c.1193C>A (p.Thr398Asn)
c.1184C>A (p.Thr395Asn)
c.1085C>A (p.Thr362Asn)
c.1073C>A (p.Thr358Asn)
c.470C>A (p.Thr157Asn)
19g.18069684T>ACA404779039IL12RB1c.1051A>T (p.Thr351Ser)
c.1171A>T (p.Thr391Ser)
c.1204A>T (p.Thr402Ser)
c.1192A>T (p.Thr398Ser)
c.1183A>T (p.Thr395Ser)
c.1084A>T (p.Thr362Ser)
c.1072A>T (p.Thr358Ser)
c.469A>T (p.Thr157Ser)
19g.18069684T>CCA404779035IL12RB1c.1051A>G (p.Thr351Ala)
c.1171A>G (p.Thr391Ala)
c.1204A>G (p.Thr402Ala)
c.1192A>G (p.Thr398Ala)
c.1183A>G (p.Thr395Ala)
c.1084A>G (p.Thr362Ala)
c.1072A>G (p.Thr358Ala)
c.469A>G (p.Thr157Ala)
 gnomAD v4
19g.18069684T>GCA404779037IL12RB1c.1051A>C (p.Thr351Pro)
c.1171A>C (p.Thr391Pro)
c.1204A>C (p.Thr402Pro)
c.1192A>C (p.Thr398Pro)
c.1183A>C (p.Thr395Pro)
c.1084A>C (p.Thr362Pro)
c.1072A>C (p.Thr358Pro)
c.469A>C (p.Thr157Pro)
19g.18069685T>ACA506030313IL12RB1c.1050A>T (p.Gly350=)
c.1170A>T (p.Gly390=)
c.1203A>T (p.Gly401=)
c.1191A>T (p.Gly397=)
c.1182A>T (p.Gly394=)
c.1083A>T (p.Gly361=)
c.1071A>T (p.Gly357=)
c.468A>T (p.Gly156=)
19g.18069685T>CCA506030316IL12RB1c.1050A>G (p.Gly350=)
c.1170A>G (p.Gly390=)
c.1203A>G (p.Gly401=)
c.1191A>G (p.Gly397=)
c.1182A>G (p.Gly394=)
c.1083A>G (p.Gly361=)
c.1071A>G (p.Gly357=)
c.468A>G (p.Gly156=)
19g.18069685T>GCA506030315IL12RB1c.1050A>C (p.Gly350=)
c.1170A>C (p.Gly390=)
c.1203A>C (p.Gly401=)
c.1191A>C (p.Gly397=)
c.1182A>C (p.Gly394=)
c.1083A>C (p.Gly361=)
c.1071A>C (p.Gly357=)
c.468A>C (p.Gly156=)
19g.18069686C>ACA404779042IL12RB1c.1049G>T (p.Gly350Val)
c.1169G>T (p.Gly390Val)
c.1202G>T (p.Gly401Val)
c.1190G>T (p.Gly397Val)
c.1181G>T (p.Gly394Val)
c.1082G>T (p.Gly361Val)
c.1070G>T (p.Gly357Val)
c.467G>T (p.Gly156Val)
19g.18069686C>GCA404779044IL12RB1c.1049G>C (p.Gly350Ala)
c.1169G>C (p.Gly390Ala)
c.1202G>C (p.Gly401Ala)
c.1190G>C (p.Gly397Ala)
c.1181G>C (p.Gly394Ala)
c.1082G>C (p.Gly361Ala)
c.1070G>C (p.Gly357Ala)
c.467G>C (p.Gly156Ala)
19g.18069686C>TCA404779046IL12RB1c.1049G>A (p.Gly350Glu)
c.1169G>A (p.Gly390Glu)
c.1202G>A (p.Gly401Glu)
c.1190G>A (p.Gly397Glu)
c.1181G>A (p.Gly394Glu)
c.1082G>A (p.Gly361Glu)
c.1070G>A (p.Gly357Glu)
c.467G>A (p.Gly156Glu)
19g.18069687C>ACA404779048IL12RB1c.1048G>T (p.Gly350Ter)
c.1168G>T (p.Gly390Ter)
c.1201G>T (p.Gly401Ter)
c.1189G>T (p.Gly397Ter)
c.1180G>T (p.Gly394Ter)
c.1081G>T (p.Gly361Ter)
c.1069G>T (p.Gly357Ter)
c.466G>T (p.Gly156Ter)
19g.18069687C=CA2326169894IL12RB1c.1048G= (p.Gly350=)
c.1168G= (p.Gly390=)
c.1201G= (p.Gly401=)
c.1189G= (p.Gly397=)
c.1180G= (p.Gly394=)
c.1081G= (p.Gly361=)
c.1069G= (p.Gly357=)
c.466G= (p.Gly156=)
19g.18069687C>GCA404779051IL12RB1c.1048G>C (p.Gly350Arg)
c.1168G>C (p.Gly390Arg)
c.1201G>C (p.Gly401Arg)
c.1189G>C (p.Gly397Arg)
c.1180G>C (p.Gly394Arg)
c.1081G>C (p.Gly361Arg)
c.1069G>C (p.Gly357Arg)
c.466G>C (p.Gly156Arg)
19g.18069687C>TCA9304975IL12RB1c.1048G>A (p.Gly350Arg)
c.1168G>A (p.Gly390Arg)
c.1201G>A (p.Gly401Arg)
c.1189G>A (p.Gly397Arg)
c.1180G>A (p.Gly394Arg)
c.1081G>A (p.Gly361Arg)
c.1069G>A (p.Gly357Arg)
c.466G>A (p.Gly156Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069688G>ACA506030321IL12RB1c.1047C>T (p.Val349=)
c.1167C>T (p.Val389=)
c.1200C>T (p.Val400=)
c.1188C>T (p.Val396=)
c.1179C>T (p.Val393=)
c.1080C>T (p.Val360=)
c.1068C>T (p.Val356=)
c.465C>T (p.Val155=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.18069688G>CCA506030322IL12RB1c.1047C>G (p.Val349=)
c.1167C>G (p.Val389=)
c.1200C>G (p.Val400=)
c.1188C>G (p.Val396=)
c.1179C>G (p.Val393=)
c.1080C>G (p.Val360=)
c.1068C>G (p.Val356=)
c.465C>G (p.Val155=)
19g.18069688G=CA2326169895IL12RB1c.1047C= (p.Val349=)
c.1167C= (p.Val389=)
c.1200C= (p.Val400=)
c.1188C= (p.Val396=)
c.1179C= (p.Val393=)
c.1080C= (p.Val360=)
c.1068C= (p.Val356=)
c.465C= (p.Val155=)
19g.18069688G>TCA506030323IL12RB1c.1047C>A (p.Val349=)
c.1167C>A (p.Val389=)
c.1200C>A (p.Val400=)
c.1188C>A (p.Val396=)
c.1179C>A (p.Val393=)
c.1080C>A (p.Val360=)
c.1068C>A (p.Val356=)
c.465C>A (p.Val155=)
19g.18069689A>CCA404779052IL12RB1c.1046T>G (p.Val349Gly)
c.1166T>G (p.Val389Gly)
c.1199T>G (p.Val400Gly)
c.1187T>G (p.Val396Gly)
c.1178T>G (p.Val393Gly)
c.1079T>G (p.Val360Gly)
c.1067T>G (p.Val356Gly)
c.464T>G (p.Val155Gly)
19g.18069689A>GCA404779054IL12RB1c.1046T>C (p.Val349Ala)
c.1166T>C (p.Val389Ala)
c.1199T>C (p.Val400Ala)
c.1187T>C (p.Val396Ala)
c.1178T>C (p.Val393Ala)
c.1079T>C (p.Val360Ala)
c.1067T>C (p.Val356Ala)
c.464T>C (p.Val155Ala)
19g.18069689A>TCA404779056IL12RB1c.1046T>A (p.Val349Asp)
c.1166T>A (p.Val389Asp)
c.1199T>A (p.Val400Asp)
c.1187T>A (p.Val396Asp)
c.1178T>A (p.Val393Asp)
c.1079T>A (p.Val360Asp)
c.1067T>A (p.Val356Asp)
c.464T>A (p.Val155Asp)
19g.18069690C>ACA404779058IL12RB1c.1045G>T (p.Val349Phe)
c.1165G>T (p.Val389Phe)
c.1198G>T (p.Val400Phe)
c.1186G>T (p.Val396Phe)
c.1177G>T (p.Val393Phe)
c.1078G>T (p.Val360Phe)
c.1066G>T (p.Val356Phe)
c.463G>T (p.Val155Phe)
 dbSNP gnomAD v4
19g.18069690C=CA2326169896IL12RB1c.1045G= (p.Val349=)
c.1165G= (p.Val389=)
c.1198G= (p.Val400=)
c.1186G= (p.Val396=)
c.1177G= (p.Val393=)
c.1078G= (p.Val360=)
c.1066G= (p.Val356=)
c.463G= (p.Val155=)
19g.18069690C>GCA404779060IL12RB1c.1045G>C (p.Val349Leu)
c.1165G>C (p.Val389Leu)
c.1198G>C (p.Val400Leu)
c.1186G>C (p.Val396Leu)
c.1177G>C (p.Val393Leu)
c.1078G>C (p.Val360Leu)
c.1066G>C (p.Val356Leu)
c.463G>C (p.Val155Leu)
19g.18069690C>TCA9304976IL12RB1c.1045G>A (p.Val349Ile)
c.1165G>A (p.Val389Ile)
c.1198G>A (p.Val400Ile)
c.1186G>A (p.Val396Ile)
c.1177G>A (p.Val393Ile)
c.1078G>A (p.Val360Ile)
c.1066G>A (p.Val356Ile)
c.463G>A (p.Val155Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.18069691G>ACA506030330IL12RB1c.1044C>T (p.Ser348=)
c.1164C>T (p.Ser388=)
c.1197C>T (p.Ser399=)
c.1185C>T (p.Ser395=)
c.1176C>T (p.Ser392=)
c.1077C>T (p.Ser359=)
c.1065C>T (p.Ser355=)
c.462C>T (p.Ser154=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18069691G>CCA404779063IL12RB1c.1044C>G (p.Ser348Arg)
c.1164C>G (p.Ser388Arg)
c.1197C>G (p.Ser399Arg)
c.1185C>G (p.Ser395Arg)
c.1176C>G (p.Ser392Arg)
c.1077C>G (p.Ser359Arg)
c.1065C>G (p.Ser355Arg)
c.462C>G (p.Ser154Arg)
19g.18069691G=CA2326169897IL12RB1c.1044C= (p.Ser348=)
c.1164C= (p.Ser388=)
c.1197C= (p.Ser399=)
c.1185C= (p.Ser395=)
c.1176C= (p.Ser392=)
c.1077C= (p.Ser359=)
c.1065C= (p.Ser355=)
c.462C= (p.Ser154=)
19g.18069691G>TCA404779064IL12RB1c.1044C>A (p.Ser348Arg)
c.1164C>A (p.Ser388Arg)
c.1197C>A (p.Ser399Arg)
c.1185C>A (p.Ser395Arg)
c.1176C>A (p.Ser392Arg)
c.1077C>A (p.Ser359Arg)
c.1065C>A (p.Ser355Arg)
c.462C>A (p.Ser154Arg)
 gnomAD v4

Number of alleles fetched