Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18069548A=CA2326169819IL12RB1c.1187T= (p.Met396=)
c.1307T= (p.Met436=)
c.1340T= (p.Met447=)
c.1328T= (p.Met443=)
c.1319T= (p.Met440=)
c.1220T= (p.Met407=)
c.1208T= (p.Met403=)
c.605T= (p.Met202=)
19g.18069548A>CCA404778426IL12RB1c.1187T>G (p.Met396Arg)
c.1307T>G (p.Met436Arg)
c.1340T>G (p.Met447Arg)
c.1328T>G (p.Met443Arg)
c.1319T>G (p.Met440Arg)
c.1220T>G (p.Met407Arg)
c.1208T>G (p.Met403Arg)
c.605T>G (p.Met202Arg)
19g.18069548A>GCA404778428IL12RB1c.1187T>C (p.Met396Thr)
c.1307T>C (p.Met436Thr)
c.1340T>C (p.Met447Thr)
c.1328T>C (p.Met443Thr)
c.1319T>C (p.Met440Thr)
c.1220T>C (p.Met407Thr)
c.1208T>C (p.Met403Thr)
c.605T>C (p.Met202Thr)
 dbSNP gnomAD v4
19g.18069548A>TCA404778429IL12RB1c.1187T>A (p.Met396Lys)
c.1307T>A (p.Met436Lys)
c.1340T>A (p.Met447Lys)
c.1328T>A (p.Met443Lys)
c.1319T>A (p.Met440Lys)
c.1220T>A (p.Met407Lys)
c.1208T>A (p.Met403Lys)
c.605T>A (p.Met202Lys)
 COSMIC COSMIC
19g.18069549T>ACA404778431IL12RB1c.1186A>T (p.Met396Leu)
c.1306A>T (p.Met436Leu)
c.1339A>T (p.Met447Leu)
c.1327A>T (p.Met443Leu)
c.1318A>T (p.Met440Leu)
c.1219A>T (p.Met407Leu)
c.1207A>T (p.Met403Leu)
c.604A>T (p.Met202Leu)
19g.18069549T>CCA404778433IL12RB1c.1186A>G (p.Met396Val)
c.1306A>G (p.Met436Val)
c.1339A>G (p.Met447Val)
c.1327A>G (p.Met443Val)
c.1318A>G (p.Met440Val)
c.1219A>G (p.Met407Val)
c.1207A>G (p.Met403Val)
c.604A>G (p.Met202Val)
19g.18069549T>GCA404778434IL12RB1c.1186A>C (p.Met396Leu)
c.1306A>C (p.Met436Leu)
c.1339A>C (p.Met447Leu)
c.1327A>C (p.Met443Leu)
c.1318A>C (p.Met440Leu)
c.1219A>C (p.Met407Leu)
c.1207A>C (p.Met403Leu)
c.604A>C (p.Met202Leu)
19g.18069550T>ACA506030048IL12RB1c.1185A>T (p.Gly395=)
c.1305A>T (p.Gly435=)
c.1338A>T (p.Gly446=)
c.1326A>T (p.Gly442=)
c.1317A>T (p.Gly439=)
c.1218A>T (p.Gly406=)
c.1206A>T (p.Gly402=)
c.603A>T (p.Gly201=)
19g.18069550T>CCA506030049IL12RB1c.1185A>G (p.Gly395=)
c.1305A>G (p.Gly435=)
c.1338A>G (p.Gly446=)
c.1326A>G (p.Gly442=)
c.1317A>G (p.Gly439=)
c.1218A>G (p.Gly406=)
c.1206A>G (p.Gly402=)
c.603A>G (p.Gly201=)
19g.18069550T>GCA9304937IL12RB1c.1185A>C (p.Gly395=)
c.1305A>C (p.Gly435=)
c.1338A>C (p.Gly446=)
c.1326A>C (p.Gly442=)
c.1317A>C (p.Gly439=)
c.1218A>C (p.Gly406=)
c.1206A>C (p.Gly402=)
c.603A>C (p.Gly201=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069550T=CA2326169820IL12RB1c.1185A= (p.Gly395=)
c.1305A= (p.Gly435=)
c.1338A= (p.Gly446=)
c.1326A= (p.Gly442=)
c.1317A= (p.Gly439=)
c.1218A= (p.Gly406=)
c.1206A= (p.Gly402=)
c.603A= (p.Gly201=)
19g.18069551C>ACA404778437IL12RB1c.1184G>T (p.Gly395Val)
c.1304G>T (p.Gly435Val)
c.1337G>T (p.Gly446Val)
c.1325G>T (p.Gly442Val)
c.1316G>T (p.Gly439Val)
c.1217G>T (p.Gly406Val)
c.1205G>T (p.Gly402Val)
c.602G>T (p.Gly201Val)
 gnomAD v4
19g.18069551C>GCA404778438IL12RB1c.1184G>C (p.Gly395Ala)
c.1304G>C (p.Gly435Ala)
c.1337G>C (p.Gly446Ala)
c.1325G>C (p.Gly442Ala)
c.1316G>C (p.Gly439Ala)
c.1217G>C (p.Gly406Ala)
c.1205G>C (p.Gly402Ala)
c.602G>C (p.Gly201Ala)
19g.18069551C>TCA404778440IL12RB1c.1184G>A (p.Gly395Glu)
c.1304G>A (p.Gly435Glu)
c.1337G>A (p.Gly446Glu)
c.1325G>A (p.Gly442Glu)
c.1316G>A (p.Gly439Glu)
c.1217G>A (p.Gly406Glu)
c.1205G>A (p.Gly402Glu)
c.602G>A (p.Gly201Glu)
19g.18069552C>ACA404778445IL12RB1c.1183G>T (p.Gly395Ter)
c.1303G>T (p.Gly435Ter)
c.1336G>T (p.Gly446Ter)
c.1324G>T (p.Gly442Ter)
c.1315G>T (p.Gly439Ter)
c.1216G>T (p.Gly406Ter)
c.1204G>T (p.Gly402Ter)
c.601G>T (p.Gly201Ter)
19g.18069552C=CA2326169821IL12RB1c.1183G= (p.Gly395=)
c.1303G= (p.Gly435=)
c.1336G= (p.Gly446=)
c.1324G= (p.Gly442=)
c.1315G= (p.Gly439=)
c.1216G= (p.Gly406=)
c.1204G= (p.Gly402=)
c.601G= (p.Gly201=)
19g.18069552C>GCA404778443IL12RB1c.1183G>C (p.Gly395Arg)
c.1303G>C (p.Gly435Arg)
c.1336G>C (p.Gly446Arg)
c.1324G>C (p.Gly442Arg)
c.1315G>C (p.Gly439Arg)
c.1216G>C (p.Gly406Arg)
c.1204G>C (p.Gly402Arg)
c.601G>C (p.Gly201Arg)
19g.18069552C>TCA404778442IL12RB1c.1183G>A (p.Gly395Arg)
c.1303G>A (p.Gly435Arg)
c.1336G>A (p.Gly446Arg)
c.1324G>A (p.Gly442Arg)
c.1315G>A (p.Gly439Arg)
c.1216G>A (p.Gly406Arg)
c.1204G>A (p.Gly402Arg)
c.601G>A (p.Gly201Arg)
 dbSNP gnomAD v2
19g.18069553A=CA2326169822IL12RB1c.1182T= (p.Ala394=)
c.1302T= (p.Ala434=)
c.1335T= (p.Ala445=)
c.1323T= (p.Ala441=)
c.1314T= (p.Ala438=)
c.1215T= (p.Ala405=)
c.1203T= (p.Ala401=)
c.600T= (p.Ala200=)
19g.18069553A>CCA506030052IL12RB1c.1182T>G (p.Ala394=)
c.1302T>G (p.Ala434=)
c.1335T>G (p.Ala445=)
c.1323T>G (p.Ala441=)
c.1314T>G (p.Ala438=)
c.1215T>G (p.Ala405=)
c.1203T>G (p.Ala401=)
c.600T>G (p.Ala200=)
 gnomAD v4
19g.18069553A>GCA506030053IL12RB1c.1182T>C (p.Ala394=)
c.1302T>C (p.Ala434=)
c.1335T>C (p.Ala445=)
c.1323T>C (p.Ala441=)
c.1314T>C (p.Ala438=)
c.1215T>C (p.Ala405=)
c.1203T>C (p.Ala401=)
c.600T>C (p.Ala200=)
 dbSNP gnomAD v2 gnomAD v4
19g.18069553A>TCA506030054IL12RB1c.1182T>A (p.Ala394=)
c.1302T>A (p.Ala434=)
c.1335T>A (p.Ala445=)
c.1323T>A (p.Ala441=)
c.1314T>A (p.Ala438=)
c.1215T>A (p.Ala405=)
c.1203T>A (p.Ala401=)
c.600T>A (p.Ala200=)
19g.18069554G>ACA404778446IL12RB1c.1181C>T (p.Ala394Val)
c.1301C>T (p.Ala434Val)
c.1334C>T (p.Ala445Val)
c.1322C>T (p.Ala441Val)
c.1313C>T (p.Ala438Val)
c.1214C>T (p.Ala405Val)
c.1202C>T (p.Ala401Val)
c.599C>T (p.Ala200Val)
 gnomAD v4
19g.18069554G>CCA404778448IL12RB1c.1181C>G (p.Ala394Gly)
c.1301C>G (p.Ala434Gly)
c.1334C>G (p.Ala445Gly)
c.1322C>G (p.Ala441Gly)
c.1313C>G (p.Ala438Gly)
c.1214C>G (p.Ala405Gly)
c.1202C>G (p.Ala401Gly)
c.599C>G (p.Ala200Gly)
19g.18069554G>TCA404778449IL12RB1c.1181C>A (p.Ala394Asp)
c.1301C>A (p.Ala434Asp)
c.1334C>A (p.Ala445Asp)
c.1322C>A (p.Ala441Asp)
c.1313C>A (p.Ala438Asp)
c.1214C>A (p.Ala405Asp)
c.1202C>A (p.Ala401Asp)
c.599C>A (p.Ala200Asp)
 gnomAD v4
19g.18069555C>ACA404778451IL12RB1c.1180G>T (p.Ala394Ser)
c.1300G>T (p.Ala434Ser)
c.1333G>T (p.Ala445Ser)
c.1321G>T (p.Ala441Ser)
c.1312G>T (p.Ala438Ser)
c.1213G>T (p.Ala405Ser)
c.1201G>T (p.Ala401Ser)
c.598G>T (p.Ala200Ser)
19g.18069555C>GCA404778453IL12RB1c.1180G>C (p.Ala394Pro)
c.1300G>C (p.Ala434Pro)
c.1333G>C (p.Ala445Pro)
c.1321G>C (p.Ala441Pro)
c.1312G>C (p.Ala438Pro)
c.1213G>C (p.Ala405Pro)
c.1201G>C (p.Ala401Pro)
c.598G>C (p.Ala200Pro)
19g.18069555C>TCA404778454IL12RB1c.1180G>A (p.Ala394Thr)
c.1300G>A (p.Ala434Thr)
c.1333G>A (p.Ala445Thr)
c.1321G>A (p.Ala441Thr)
c.1312G>A (p.Ala438Thr)
c.1213G>A (p.Ala405Thr)
c.1201G>A (p.Ala401Thr)
c.598G>A (p.Ala200Thr)
 gnomAD v4
19g.18069556C>ACA506030060IL12RB1c.1179G>T (p.Pro393=)
c.1299G>T (p.Pro433=)
c.1332G>T (p.Pro444=)
c.1320G>T (p.Pro440=)
c.1311G>T (p.Pro437=)
c.1212G>T (p.Pro404=)
c.1200G>T (p.Pro400=)
c.597G>T (p.Pro199=)
19g.18069556C=CA2326169823IL12RB1c.1179G= (p.Pro393=)
c.1299G= (p.Pro433=)
c.1332G= (p.Pro444=)
c.1320G= (p.Pro440=)
c.1311G= (p.Pro437=)
c.1212G= (p.Pro404=)
c.1200G= (p.Pro400=)
c.597G= (p.Pro199=)
19g.18069556C>GCA506030058IL12RB1c.1179G>C (p.Pro393=)
c.1299G>C (p.Pro433=)
c.1332G>C (p.Pro444=)
c.1320G>C (p.Pro440=)
c.1311G>C (p.Pro437=)
c.1212G>C (p.Pro404=)
c.1200G>C (p.Pro400=)
c.597G>C (p.Pro199=)
19g.18069556C>TCA9304938IL12RB1c.1179G>A (p.Pro393=)
c.1299G>A (p.Pro433=)
c.1332G>A (p.Pro444=)
c.1320G>A (p.Pro440=)
c.1311G>A (p.Pro437=)
c.1212G>A (p.Pro404=)
c.1200G>A (p.Pro400=)
c.597G>A (p.Pro199=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.18069557G>ACA9304939IL12RB1c.1178C>T (p.Pro393Leu)
c.1298C>T (p.Pro433Leu)
c.1331C>T (p.Pro444Leu)
c.1319C>T (p.Pro440Leu)
c.1310C>T (p.Pro437Leu)
c.1211C>T (p.Pro404Leu)
c.1199C>T (p.Pro400Leu)
c.596C>T (p.Pro199Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069557G>CCA404778456IL12RB1c.1178C>G (p.Pro393Arg)
c.1298C>G (p.Pro433Arg)
c.1331C>G (p.Pro444Arg)
c.1319C>G (p.Pro440Arg)
c.1310C>G (p.Pro437Arg)
c.1211C>G (p.Pro404Arg)
c.1199C>G (p.Pro400Arg)
c.596C>G (p.Pro199Arg)
19g.18069557G=CA2326169824IL12RB1c.1178C= (p.Pro393=)
c.1298C= (p.Pro433=)
c.1331C= (p.Pro444=)
c.1319C= (p.Pro440=)
c.1310C= (p.Pro437=)
c.1211C= (p.Pro404=)
c.1199C= (p.Pro400=)
c.596C= (p.Pro199=)
19g.18069557G>TCA404778458IL12RB1c.1178C>A (p.Pro393Gln)
c.1298C>A (p.Pro433Gln)
c.1331C>A (p.Pro444Gln)
c.1319C>A (p.Pro440Gln)
c.1310C>A (p.Pro437Gln)
c.1211C>A (p.Pro404Gln)
c.1199C>A (p.Pro400Gln)
c.596C>A (p.Pro199Gln)
19g.18069558G>ACA306162767IL12RB1c.1177C>T (p.Pro393Ser)
c.1297C>T (p.Pro433Ser)
c.1330C>T (p.Pro444Ser)
c.1318C>T (p.Pro440Ser)
c.1309C>T (p.Pro437Ser)
c.1210C>T (p.Pro404Ser)
c.1198C>T (p.Pro400Ser)
c.595C>T (p.Pro199Ser)
 dbSNP
19g.18069558G>CCA404778460IL12RB1c.1177C>G (p.Pro393Ala)
c.1297C>G (p.Pro433Ala)
c.1330C>G (p.Pro444Ala)
c.1318C>G (p.Pro440Ala)
c.1309C>G (p.Pro437Ala)
c.1210C>G (p.Pro404Ala)
c.1198C>G (p.Pro400Ala)
c.595C>G (p.Pro199Ala)
 dbSNP gnomAD v4
19g.18069558G=CA2326169825IL12RB1c.1177C= (p.Pro393=)
c.1297C= (p.Pro433=)
c.1330C= (p.Pro444=)
c.1318C= (p.Pro440=)
c.1309C= (p.Pro437=)
c.1210C= (p.Pro404=)
c.1198C= (p.Pro400=)
c.595C= (p.Pro199=)
19g.18069558G>TCA404778462IL12RB1c.1177C>A (p.Pro393Thr)
c.1297C>A (p.Pro433Thr)
c.1330C>A (p.Pro444Thr)
c.1318C>A (p.Pro440Thr)
c.1309C>A (p.Pro437Thr)
c.1210C>A (p.Pro404Thr)
c.1198C>A (p.Pro400Thr)
c.595C>A (p.Pro199Thr)
 gnomAD v4
19g.18069559A>CCA404778464IL12RB1c.1176T>G (p.Asp392Glu)
c.1296T>G (p.Asp432Glu)
c.1329T>G (p.Asp443Glu)
c.1317T>G (p.Asp439Glu)
c.1308T>G (p.Asp436Glu)
c.1209T>G (p.Asp403Glu)
c.1197T>G (p.Asp399Glu)
c.594T>G (p.Asp198Glu)
19g.18069559A>GCA506030063IL12RB1c.1176T>C (p.Asp392=)
c.1296T>C (p.Asp432=)
c.1329T>C (p.Asp443=)
c.1317T>C (p.Asp439=)
c.1308T>C (p.Asp436=)
c.1209T>C (p.Asp403=)
c.1197T>C (p.Asp399=)
c.594T>C (p.Asp198=)
19g.18069559A>TCA404778466IL12RB1c.1176T>A (p.Asp392Glu)
c.1296T>A (p.Asp432Glu)
c.1329T>A (p.Asp443Glu)
c.1317T>A (p.Asp439Glu)
c.1308T>A (p.Asp436Glu)
c.1209T>A (p.Asp403Glu)
c.1197T>A (p.Asp399Glu)
c.594T>A (p.Asp198Glu)
19g.18069560T>ACA404778467IL12RB1c.1175A>T (p.Asp392Val)
c.1295A>T (p.Asp432Val)
c.1328A>T (p.Asp443Val)
c.1316A>T (p.Asp439Val)
c.1307A>T (p.Asp436Val)
c.1208A>T (p.Asp403Val)
c.1196A>T (p.Asp399Val)
c.593A>T (p.Asp198Val)
19g.18069560T>CCA404778471IL12RB1c.1175A>G (p.Asp392Gly)
c.1295A>G (p.Asp432Gly)
c.1328A>G (p.Asp443Gly)
c.1316A>G (p.Asp439Gly)
c.1307A>G (p.Asp436Gly)
c.1208A>G (p.Asp403Gly)
c.1196A>G (p.Asp399Gly)
c.593A>G (p.Asp198Gly)
19g.18069560T>GCA404778469IL12RB1c.1175A>C (p.Asp392Ala)
c.1295A>C (p.Asp432Ala)
c.1328A>C (p.Asp443Ala)
c.1316A>C (p.Asp439Ala)
c.1307A>C (p.Asp436Ala)
c.1208A>C (p.Asp403Ala)
c.1196A>C (p.Asp399Ala)
c.593A>C (p.Asp198Ala)
19g.18069561C>ACA404778473IL12RB1c.1174G>T (p.Asp392Tyr)
c.1294G>T (p.Asp432Tyr)
c.1327G>T (p.Asp443Tyr)
c.1315G>T (p.Asp439Tyr)
c.1306G>T (p.Asp436Tyr)
c.1207G>T (p.Asp403Tyr)
c.1195G>T (p.Asp399Tyr)
c.592G>T (p.Asp198Tyr)
 gnomAD v4
19g.18069561C=CA2326169826IL12RB1c.1174G= (p.Asp392=)
c.1294G= (p.Asp432=)
c.1327G= (p.Asp443=)
c.1315G= (p.Asp439=)
c.1306G= (p.Asp436=)
c.1207G= (p.Asp403=)
c.1195G= (p.Asp399=)
c.592G= (p.Asp198=)
19g.18069561C>GCA404778474IL12RB1c.1174G>C (p.Asp392His)
c.1294G>C (p.Asp432His)
c.1327G>C (p.Asp443His)
c.1315G>C (p.Asp439His)
c.1306G>C (p.Asp436His)
c.1207G>C (p.Asp403His)
c.1195G>C (p.Asp399His)
c.592G>C (p.Asp198His)
 gnomAD v4
19g.18069561C>TCA306162770IL12RB1c.1174G>A (p.Asp392Asn)
c.1294G>A (p.Asp432Asn)
c.1327G>A (p.Asp443Asn)
c.1315G>A (p.Asp439Asn)
c.1306G>A (p.Asp436Asn)
c.1207G>A (p.Asp403Asn)
c.1195G>A (p.Asp399Asn)
c.592G>A (p.Asp198Asn)
 dbSNP gnomAD v2 gnomAD v4
19g.18069562C>ACA506030065IL12RB1c.1173G>T (p.Pro391=)
c.1293G>T (p.Pro431=)
c.1326G>T (p.Pro442=)
c.1314G>T (p.Pro438=)
c.1305G>T (p.Pro435=)
c.1206G>T (p.Pro402=)
c.1194G>T (p.Pro398=)
c.591G>T (p.Pro197=)
19g.18069562C=CA2326169827IL12RB1c.1173G= (p.Pro391=)
c.1293G= (p.Pro431=)
c.1326G= (p.Pro442=)
c.1314G= (p.Pro438=)
c.1305G= (p.Pro435=)
c.1206G= (p.Pro402=)
c.1194G= (p.Pro398=)
c.591G= (p.Pro197=)
19g.18069562C>GCA506030066IL12RB1c.1173G>C (p.Pro391=)
c.1293G>C (p.Pro431=)
c.1326G>C (p.Pro442=)
c.1314G>C (p.Pro438=)
c.1305G>C (p.Pro435=)
c.1206G>C (p.Pro402=)
c.1194G>C (p.Pro398=)
c.591G>C (p.Pro197=)
 dbSNP
19g.18069562C>TCA9304940IL12RB1c.1173G>A (p.Pro391=)
c.1293G>A (p.Pro431=)
c.1326G>A (p.Pro442=)
c.1314G>A (p.Pro438=)
c.1305G>A (p.Pro435=)
c.1206G>A (p.Pro402=)
c.1194G>A (p.Pro398=)
c.591G>A (p.Pro197=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069563G>ACA9304941IL12RB1c.1172C>T (p.Pro391Leu)
c.1292C>T (p.Pro431Leu)
c.1325C>T (p.Pro442Leu)
c.1313C>T (p.Pro438Leu)
c.1304C>T (p.Pro435Leu)
c.1205C>T (p.Pro402Leu)
c.1193C>T (p.Pro398Leu)
c.590C>T (p.Pro197Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069563G>CCA404778481IL12RB1c.1172C>G (p.Pro391Arg)
c.1292C>G (p.Pro431Arg)
c.1325C>G (p.Pro442Arg)
c.1313C>G (p.Pro438Arg)
c.1304C>G (p.Pro435Arg)
c.1205C>G (p.Pro402Arg)
c.1193C>G (p.Pro398Arg)
c.590C>G (p.Pro197Arg)
 dbSNP gnomAD v4
19g.18069563G=CA2326169828IL12RB1c.1172C= (p.Pro391=)
c.1292C= (p.Pro431=)
c.1325C= (p.Pro442=)
c.1313C= (p.Pro438=)
c.1304C= (p.Pro435=)
c.1205C= (p.Pro402=)
c.1193C= (p.Pro398=)
c.590C= (p.Pro197=)
19g.18069563G>TCA404778483IL12RB1c.1172C>A (p.Pro391Gln)
c.1292C>A (p.Pro431Gln)
c.1325C>A (p.Pro442Gln)
c.1313C>A (p.Pro438Gln)
c.1304C>A (p.Pro435Gln)
c.1205C>A (p.Pro402Gln)
c.1193C>A (p.Pro398Gln)
c.590C>A (p.Pro197Gln)
19g.18069565delCA2695228475IL12RB1c.1172del (p.Pro391ArgfsTer?)
c.1292del (p.Pro431ArgfsTer?)
c.1325del (p.Pro442ArgfsTer?)
c.1313del (p.Pro438ArgfsTer?)
c.1304del (p.Pro435ArgfsTer?)
c.1205del (p.Pro402ArgfsTer?)
c.1193del (p.Pro398ArgfsTer?)
c.590del (p.Pro197ArgfsTer?)
19g.18069564G>ACA404778485IL12RB1c.1171C>T (p.Pro391Ser)
c.1291C>T (p.Pro431Ser)
c.1324C>T (p.Pro442Ser)
c.1312C>T (p.Pro438Ser)
c.1303C>T (p.Pro435Ser)
c.1204C>T (p.Pro402Ser)
c.1192C>T (p.Pro398Ser)
c.589C>T (p.Pro197Ser)
 gnomAD v4
19g.18069564G>CCA404778487IL12RB1c.1171C>G (p.Pro391Ala)
c.1291C>G (p.Pro431Ala)
c.1324C>G (p.Pro442Ala)
c.1312C>G (p.Pro438Ala)
c.1303C>G (p.Pro435Ala)
c.1204C>G (p.Pro402Ala)
c.1192C>G (p.Pro398Ala)
c.589C>G (p.Pro197Ala)
19g.18069564G>TCA404778488IL12RB1c.1171C>A (p.Pro391Thr)
c.1291C>A (p.Pro431Thr)
c.1324C>A (p.Pro442Thr)
c.1312C>A (p.Pro438Thr)
c.1303C>A (p.Pro435Thr)
c.1204C>A (p.Pro402Thr)
c.1192C>A (p.Pro398Thr)
c.589C>A (p.Pro197Thr)
 gnomAD v4
19g.18069565G>ACA506030068IL12RB1c.1170C>T (p.Asp390=)
c.1290C>T (p.Asp430=)
c.1323C>T (p.Asp441=)
c.1311C>T (p.Asp437=)
c.1302C>T (p.Asp434=)
c.1203C>T (p.Asp401=)
c.1191C>T (p.Asp397=)
c.588C>T (p.Asp196=)
19g.18069565G>CCA404778489IL12RB1c.1170C>G (p.Asp390Glu)
c.1290C>G (p.Asp430Glu)
c.1323C>G (p.Asp441Glu)
c.1311C>G (p.Asp437Glu)
c.1302C>G (p.Asp434Glu)
c.1203C>G (p.Asp401Glu)
c.1191C>G (p.Asp397Glu)
c.588C>G (p.Asp196Glu)
19g.18069565G>TCA404778491IL12RB1c.1170C>A (p.Asp390Glu)
c.1290C>A (p.Asp430Glu)
c.1323C>A (p.Asp441Glu)
c.1311C>A (p.Asp437Glu)
c.1302C>A (p.Asp434Glu)
c.1203C>A (p.Asp401Glu)
c.1191C>A (p.Asp397Glu)
c.588C>A (p.Asp196Glu)
 gnomAD v4
19g.18069566T>ACA404778496IL12RB1c.1169A>T (p.Asp390Val)
c.1289A>T (p.Asp430Val)
c.1322A>T (p.Asp441Val)
c.1310A>T (p.Asp437Val)
c.1301A>T (p.Asp434Val)
c.1202A>T (p.Asp401Val)
c.1190A>T (p.Asp397Val)
c.587A>T (p.Asp196Val)
19g.18069566T>CCA404778493IL12RB1c.1169A>G (p.Asp390Gly)
c.1289A>G (p.Asp430Gly)
c.1322A>G (p.Asp441Gly)
c.1310A>G (p.Asp437Gly)
c.1301A>G (p.Asp434Gly)
c.1202A>G (p.Asp401Gly)
c.1190A>G (p.Asp397Gly)
c.587A>G (p.Asp196Gly)
19g.18069566T>GCA404778495IL12RB1c.1169A>C (p.Asp390Ala)
c.1289A>C (p.Asp430Ala)
c.1322A>C (p.Asp441Ala)
c.1310A>C (p.Asp437Ala)
c.1301A>C (p.Asp434Ala)
c.1202A>C (p.Asp401Ala)
c.1190A>C (p.Asp397Ala)
c.587A>C (p.Asp196Ala)
19g.18069567C>ACA404778498IL12RB1c.1168G>T (p.Asp390Tyr)
c.1288G>T (p.Asp430Tyr)
c.1321G>T (p.Asp441Tyr)
c.1309G>T (p.Asp437Tyr)
c.1300G>T (p.Asp434Tyr)
c.1201G>T (p.Asp401Tyr)
c.1189G>T (p.Asp397Tyr)
c.586G>T (p.Asp196Tyr)
 gnomAD v4
19g.18069567C>GCA404778500IL12RB1c.1168G>C (p.Asp390His)
c.1288G>C (p.Asp430His)
c.1321G>C (p.Asp441His)
c.1309G>C (p.Asp437His)
c.1300G>C (p.Asp434His)
c.1201G>C (p.Asp401His)
c.1189G>C (p.Asp397His)
c.586G>C (p.Asp196His)
 gnomAD v4
19g.18069567C>TCA404778501IL12RB1c.1168G>A (p.Asp390Asn)
c.1288G>A (p.Asp430Asn)
c.1321G>A (p.Asp441Asn)
c.1309G>A (p.Asp437Asn)
c.1300G>A (p.Asp434Asn)
c.1201G>A (p.Asp401Asn)
c.1189G>A (p.Asp397Asn)
c.586G>A (p.Asp196Asn)
19g.18069568T>ACA404778502IL12RB1c.1167A>T (p.Gln389His)
c.1287A>T (p.Gln429His)
c.1320A>T (p.Gln440His)
c.1308A>T (p.Gln436His)
c.1299A>T (p.Gln433His)
c.1200A>T (p.Gln400His)
c.1188A>T (p.Gln396His)
c.585A>T (p.Gln195His)
 gnomAD v4
19g.18069568T>CCA506030069IL12RB1c.1167A>G (p.Gln389=)
c.1287A>G (p.Gln429=)
c.1320A>G (p.Gln440=)
c.1308A>G (p.Gln436=)
c.1299A>G (p.Gln433=)
c.1200A>G (p.Gln400=)
c.1188A>G (p.Gln396=)
c.585A>G (p.Gln195=)
19g.18069568T>GCA404778504IL12RB1c.1167A>C (p.Gln389His)
c.1287A>C (p.Gln429His)
c.1320A>C (p.Gln440His)
c.1308A>C (p.Gln436His)
c.1299A>C (p.Gln433His)
c.1200A>C (p.Gln400His)
c.1188A>C (p.Gln396His)
c.585A>C (p.Gln195His)
19g.18069569T>ACA404778505IL12RB1c.1166A>T (p.Gln389Leu)
c.1286A>T (p.Gln429Leu)
c.1319A>T (p.Gln440Leu)
c.1307A>T (p.Gln436Leu)
c.1298A>T (p.Gln433Leu)
c.1199A>T (p.Gln400Leu)
c.1187A>T (p.Gln396Leu)
c.584A>T (p.Gln195Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.18069569T>CCA404778507IL12RB1c.1166A>G (p.Gln389Arg)
c.1286A>G (p.Gln429Arg)
c.1319A>G (p.Gln440Arg)
c.1307A>G (p.Gln436Arg)
c.1298A>G (p.Gln433Arg)
c.1199A>G (p.Gln400Arg)
c.1187A>G (p.Gln396Arg)
c.584A>G (p.Gln195Arg)
19g.18069569T>GCA404778509IL12RB1c.1166A>C (p.Gln389Pro)
c.1286A>C (p.Gln429Pro)
c.1319A>C (p.Gln440Pro)
c.1307A>C (p.Gln436Pro)
c.1298A>C (p.Gln433Pro)
c.1199A>C (p.Gln400Pro)
c.1187A>C (p.Gln396Pro)
c.584A>C (p.Gln195Pro)
19g.18069569T=CA2326169829IL12RB1c.1166A= (p.Gln389=)
c.1286A= (p.Gln429=)
c.1319A= (p.Gln440=)
c.1307A= (p.Gln436=)
c.1298A= (p.Gln433=)
c.1199A= (p.Gln400=)
c.1187A= (p.Gln396=)
c.584A= (p.Gln195=)
19g.18069570delCA2735823425IL12RB1c.1165del (p.Gln389LysfsTer?)
c.1285del (p.Gln429LysfsTer?)
c.1318del (p.Gln440LysfsTer?)
c.1306del (p.Gln436LysfsTer?)
c.1297del (p.Gln433LysfsTer?)
c.1198del (p.Gln400LysfsTer?)
c.1186del (p.Gln396LysfsTer?)
c.583del (p.Gln195LysfsTer?)
 dbSNP
19g.18069570G>ACA404778511IL12RB1c.1165C>T (p.Gln389Ter)
c.1285C>T (p.Gln429Ter)
c.1318C>T (p.Gln440Ter)
c.1306C>T (p.Gln436Ter)
c.1297C>T (p.Gln433Ter)
c.1198C>T (p.Gln400Ter)
c.1186C>T (p.Gln396Ter)
c.583C>T (p.Gln195Ter)
19g.18069570G>CCA404778512IL12RB1c.1165C>G (p.Gln389Glu)
c.1285C>G (p.Gln429Glu)
c.1318C>G (p.Gln440Glu)
c.1306C>G (p.Gln436Glu)
c.1297C>G (p.Gln433Glu)
c.1198C>G (p.Gln400Glu)
c.1186C>G (p.Gln396Glu)
c.583C>G (p.Gln195Glu)
 gnomAD v4
19g.18069570G>TCA404778514IL12RB1c.1165C>A (p.Gln389Lys)
c.1285C>A (p.Gln429Lys)
c.1318C>A (p.Gln440Lys)
c.1306C>A (p.Gln436Lys)
c.1297C>A (p.Gln433Lys)
c.1198C>A (p.Gln400Lys)
c.1186C>A (p.Gln396Lys)
c.583C>A (p.Gln195Lys)
 gnomAD v4
19g.18069571C>ACA506030073IL12RB1c.1164G>T (p.Pro388=)
c.1284G>T (p.Pro428=)
c.1317G>T (p.Pro439=)
c.1305G>T (p.Pro435=)
c.1296G>T (p.Pro432=)
c.1197G>T (p.Pro399=)
c.1185G>T (p.Pro395=)
c.582G>T (p.Pro194=)
 dbSNP
19g.18069571C=CA2326169830IL12RB1c.1164G= (p.Pro388=)
c.1284G= (p.Pro428=)
c.1317G= (p.Pro439=)
c.1305G= (p.Pro435=)
c.1296G= (p.Pro432=)
c.1197G= (p.Pro399=)
c.1185G= (p.Pro395=)
c.582G= (p.Pro194=)
19g.18069571C>GCA506030074IL12RB1c.1164G>C (p.Pro388=)
c.1284G>C (p.Pro428=)
c.1317G>C (p.Pro439=)
c.1305G>C (p.Pro435=)
c.1296G>C (p.Pro432=)
c.1197G>C (p.Pro399=)
c.1185G>C (p.Pro395=)
c.582G>C (p.Pro194=)
19g.18069571C>TCA9304942IL12RB1c.1164G>A (p.Pro388=)
c.1284G>A (p.Pro428=)
c.1317G>A (p.Pro439=)
c.1305G>A (p.Pro435=)
c.1296G>A (p.Pro432=)
c.1197G>A (p.Pro399=)
c.1185G>A (p.Pro395=)
c.582G>A (p.Pro194=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069572G>ACA9304943IL12RB1c.1163C>T (p.Pro388Leu)
c.1283C>T (p.Pro428Leu)
c.1316C>T (p.Pro439Leu)
c.1304C>T (p.Pro435Leu)
c.1295C>T (p.Pro432Leu)
c.1196C>T (p.Pro399Leu)
c.1184C>T (p.Pro395Leu)
c.581C>T (p.Pro194Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18069572G>CCA404778518IL12RB1c.1163C>G (p.Pro388Arg)
c.1283C>G (p.Pro428Arg)
c.1316C>G (p.Pro439Arg)
c.1304C>G (p.Pro435Arg)
c.1295C>G (p.Pro432Arg)
c.1196C>G (p.Pro399Arg)
c.1184C>G (p.Pro395Arg)
c.581C>G (p.Pro194Arg)
19g.18069572G=CA2326169831IL12RB1c.1163C= (p.Pro388=)
c.1283C= (p.Pro428=)
c.1316C= (p.Pro439=)
c.1304C= (p.Pro435=)
c.1295C= (p.Pro432=)
c.1196C= (p.Pro399=)
c.1184C= (p.Pro395=)
c.581C= (p.Pro194=)
19g.18069572G>TCA404778516IL12RB1c.1163C>A (p.Pro388Gln)
c.1283C>A (p.Pro428Gln)
c.1316C>A (p.Pro439Gln)
c.1304C>A (p.Pro435Gln)
c.1295C>A (p.Pro432Gln)
c.1196C>A (p.Pro399Gln)
c.1184C>A (p.Pro395Gln)
c.581C>A (p.Pro194Gln)
 gnomAD v4
19g.18069573G>ACA9304944IL12RB1c.1162C>T (p.Pro388Ser)
c.1282C>T (p.Pro428Ser)
c.1315C>T (p.Pro439Ser)
c.1303C>T (p.Pro435Ser)
c.1294C>T (p.Pro432Ser)
c.1195C>T (p.Pro399Ser)
c.1183C>T (p.Pro395Ser)
c.580C>T (p.Pro194Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069573G>CCA404778520IL12RB1c.1162C>G (p.Pro388Ala)
c.1282C>G (p.Pro428Ala)
c.1315C>G (p.Pro439Ala)
c.1303C>G (p.Pro435Ala)
c.1294C>G (p.Pro432Ala)
c.1195C>G (p.Pro399Ala)
c.1183C>G (p.Pro395Ala)
c.580C>G (p.Pro194Ala)
 gnomAD v4
19g.18069573G=CA2326169832IL12RB1c.1162C= (p.Pro388=)
c.1282C= (p.Pro428=)
c.1315C= (p.Pro439=)
c.1303C= (p.Pro435=)
c.1294C= (p.Pro432=)
c.1195C= (p.Pro399=)
c.1183C= (p.Pro395=)
c.580C= (p.Pro194=)
19g.18069573G>TCA404778521IL12RB1c.1162C>A (p.Pro388Thr)
c.1282C>A (p.Pro428Thr)
c.1315C>A (p.Pro439Thr)
c.1303C>A (p.Pro435Thr)
c.1294C>A (p.Pro432Thr)
c.1195C>A (p.Pro399Thr)
c.1183C>A (p.Pro395Thr)
c.580C>A (p.Pro194Thr)
 gnomAD v4
19g.18069574C>ACA506030078IL12RB1c.1161G>T (p.Ala387=)
c.1281G>T (p.Ala427=)
c.1314G>T (p.Ala438=)
c.1302G>T (p.Ala434=)
c.1293G>T (p.Ala431=)
c.1194G>T (p.Ala398=)
c.1182G>T (p.Ala394=)
c.579G>T (p.Ala193=)
 gnomAD v4
19g.18069574C=CA2326169833IL12RB1c.1161G= (p.Ala387=)
c.1281G= (p.Ala427=)
c.1314G= (p.Ala438=)
c.1302G= (p.Ala434=)
c.1293G= (p.Ala431=)
c.1194G= (p.Ala398=)
c.1182G= (p.Ala394=)
c.579G= (p.Ala193=)
19g.18069574C>GCA506030079IL12RB1c.1161G>C (p.Ala387=)
c.1281G>C (p.Ala427=)
c.1314G>C (p.Ala438=)
c.1302G>C (p.Ala434=)
c.1293G>C (p.Ala431=)
c.1194G>C (p.Ala398=)
c.1182G>C (p.Ala394=)
c.579G>C (p.Ala193=)
19g.18069574C>TCA9304945IL12RB1c.1161G>A (p.Ala387=)
c.1281G>A (p.Ala427=)
c.1314G>A (p.Ala438=)
c.1302G>A (p.Ala434=)
c.1293G>A (p.Ala431=)
c.1194G>A (p.Ala398=)
c.1182G>A (p.Ala394=)
c.579G>A (p.Ala193=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069575G>ACA9304946IL12RB1c.1160C>T (p.Ala387Val)
c.1280C>T (p.Ala427Val)
c.1313C>T (p.Ala438Val)
c.1301C>T (p.Ala434Val)
c.1292C>T (p.Ala431Val)
c.1193C>T (p.Ala398Val)
c.1181C>T (p.Ala394Val)
c.578C>T (p.Ala193Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069575G>CCA404778525IL12RB1c.1160C>G (p.Ala387Gly)
c.1280C>G (p.Ala427Gly)
c.1313C>G (p.Ala438Gly)
c.1301C>G (p.Ala434Gly)
c.1292C>G (p.Ala431Gly)
c.1193C>G (p.Ala398Gly)
c.1181C>G (p.Ala394Gly)
c.578C>G (p.Ala193Gly)
19g.18069575G=CA2326169834IL12RB1c.1160C= (p.Ala387=)
c.1280C= (p.Ala427=)
c.1313C= (p.Ala438=)
c.1301C= (p.Ala434=)
c.1292C= (p.Ala431=)
c.1193C= (p.Ala398=)
c.1181C= (p.Ala394=)
c.578C= (p.Ala193=)
19g.18069575G>TCA404778526IL12RB1c.1160C>A (p.Ala387Glu)
c.1280C>A (p.Ala427Glu)
c.1313C>A (p.Ala438Glu)
c.1301C>A (p.Ala434Glu)
c.1292C>A (p.Ala431Glu)
c.1193C>A (p.Ala398Glu)
c.1181C>A (p.Ala394Glu)
c.578C>A (p.Ala193Glu)
 dbSNP gnomAD v2 gnomAD v4
19g.18069576C>ACA404778528IL12RB1c.1159G>T (p.Ala387Ser)
c.1279G>T (p.Ala427Ser)
c.1312G>T (p.Ala438Ser)
c.1300G>T (p.Ala434Ser)
c.1291G>T (p.Ala431Ser)
c.1192G>T (p.Ala398Ser)
c.1180G>T (p.Ala394Ser)
c.577G>T (p.Ala193Ser)
19g.18069576C>GCA404778529IL12RB1c.1159G>C (p.Ala387Pro)
c.1279G>C (p.Ala427Pro)
c.1312G>C (p.Ala438Pro)
c.1300G>C (p.Ala434Pro)
c.1291G>C (p.Ala431Pro)
c.1192G>C (p.Ala398Pro)
c.1180G>C (p.Ala394Pro)
c.577G>C (p.Ala193Pro)
19g.18069576C>TCA404778531IL12RB1c.1159G>A (p.Ala387Thr)
c.1279G>A (p.Ala427Thr)
c.1312G>A (p.Ala438Thr)
c.1300G>A (p.Ala434Thr)
c.1291G>A (p.Ala431Thr)
c.1192G>A (p.Ala398Thr)
c.1180G>A (p.Ala394Thr)
c.577G>A (p.Ala193Thr)
19g.18069577A>CCA506030082IL12RB1c.1158T>G (p.Thr386=)
c.1278T>G (p.Thr426=)
c.1311T>G (p.Thr437=)
c.1299T>G (p.Thr433=)
c.1290T>G (p.Thr430=)
c.1191T>G (p.Thr397=)
c.1179T>G (p.Thr393=)
c.576T>G (p.Thr192=)
19g.18069577A>GCA506030083IL12RB1c.1158T>C (p.Thr386=)
c.1278T>C (p.Thr426=)
c.1311T>C (p.Thr437=)
c.1299T>C (p.Thr433=)
c.1290T>C (p.Thr430=)
c.1191T>C (p.Thr397=)
c.1179T>C (p.Thr393=)
c.576T>C (p.Thr192=)
19g.18069577A>TCA506030084IL12RB1c.1158T>A (p.Thr386=)
c.1278T>A (p.Thr426=)
c.1311T>A (p.Thr437=)
c.1299T>A (p.Thr433=)
c.1290T>A (p.Thr430=)
c.1191T>A (p.Thr397=)
c.1179T>A (p.Thr393=)
c.576T>A (p.Thr192=)
 gnomAD v4
19g.18069578G>ACA404778532IL12RB1c.1157C>T (p.Thr386Ile)
c.1277C>T (p.Thr426Ile)
c.1310C>T (p.Thr437Ile)
c.1298C>T (p.Thr433Ile)
c.1289C>T (p.Thr430Ile)
c.1190C>T (p.Thr397Ile)
c.1178C>T (p.Thr393Ile)
c.575C>T (p.Thr192Ile)
 gnomAD v4
19g.18069578G>CCA404778534IL12RB1c.1157C>G (p.Thr386Ser)
c.1277C>G (p.Thr426Ser)
c.1310C>G (p.Thr437Ser)
c.1298C>G (p.Thr433Ser)
c.1289C>G (p.Thr430Ser)
c.1190C>G (p.Thr397Ser)
c.1178C>G (p.Thr393Ser)
c.575C>G (p.Thr192Ser)
19g.18069578G>TCA404778535IL12RB1c.1157C>A (p.Thr386Asn)
c.1277C>A (p.Thr426Asn)
c.1310C>A (p.Thr437Asn)
c.1298C>A (p.Thr433Asn)
c.1289C>A (p.Thr430Asn)
c.1190C>A (p.Thr397Asn)
c.1178C>A (p.Thr393Asn)
c.575C>A (p.Thr192Asn)
 gnomAD v4
19g.18069579T>ACA404778539IL12RB1c.1156A>T (p.Thr386Ser)
c.1276A>T (p.Thr426Ser)
c.1309A>T (p.Thr437Ser)
c.1297A>T (p.Thr433Ser)
c.1288A>T (p.Thr430Ser)
c.1189A>T (p.Thr397Ser)
c.1177A>T (p.Thr393Ser)
c.574A>T (p.Thr192Ser)
19g.18069579T>CCA404778541IL12RB1c.1156A>G (p.Thr386Ala)
c.1276A>G (p.Thr426Ala)
c.1309A>G (p.Thr437Ala)
c.1297A>G (p.Thr433Ala)
c.1288A>G (p.Thr430Ala)
c.1189A>G (p.Thr397Ala)
c.1177A>G (p.Thr393Ala)
c.574A>G (p.Thr192Ala)
19g.18069579T>GCA404778537IL12RB1c.1156A>C (p.Thr386Pro)
c.1276A>C (p.Thr426Pro)
c.1309A>C (p.Thr437Pro)
c.1297A>C (p.Thr433Pro)
c.1288A>C (p.Thr430Pro)
c.1189A>C (p.Thr397Pro)
c.1177A>C (p.Thr393Pro)
c.574A>C (p.Thr192Pro)
19g.18069580C>ACA506030088IL12RB1c.1155G>T (p.Leu385=)
c.1275G>T (p.Leu425=)
c.1308G>T (p.Leu436=)
c.1296G>T (p.Leu432=)
c.1287G>T (p.Leu429=)
c.1188G>T (p.Leu396=)
c.1176G>T (p.Leu392=)
c.573G>T (p.Leu191=)
19g.18069580C>GCA506030089IL12RB1c.1155G>C (p.Leu385=)
c.1275G>C (p.Leu425=)
c.1308G>C (p.Leu436=)
c.1296G>C (p.Leu432=)
c.1287G>C (p.Leu429=)
c.1188G>C (p.Leu396=)
c.1176G>C (p.Leu392=)
c.573G>C (p.Leu191=)
19g.18069580C>TCA506030090IL12RB1c.1155G>A (p.Leu385=)
c.1275G>A (p.Leu425=)
c.1308G>A (p.Leu436=)
c.1296G>A (p.Leu432=)
c.1287G>A (p.Leu429=)
c.1188G>A (p.Leu396=)
c.1176G>A (p.Leu392=)
c.573G>A (p.Leu191=)
19g.18069581A>CCA404778542IL12RB1c.1154T>G (p.Leu385Arg)
c.1274T>G (p.Leu425Arg)
c.1307T>G (p.Leu436Arg)
c.1295T>G (p.Leu432Arg)
c.1286T>G (p.Leu429Arg)
c.1187T>G (p.Leu396Arg)
c.1175T>G (p.Leu392Arg)
c.572T>G (p.Leu191Arg)
19g.18069581A>GCA404778546IL12RB1c.1154T>C (p.Leu385Pro)
c.1274T>C (p.Leu425Pro)
c.1307T>C (p.Leu436Pro)
c.1295T>C (p.Leu432Pro)
c.1286T>C (p.Leu429Pro)
c.1187T>C (p.Leu396Pro)
c.1175T>C (p.Leu392Pro)
c.572T>C (p.Leu191Pro)
19g.18069581A>TCA404778544IL12RB1c.1154T>A (p.Leu385Gln)
c.1274T>A (p.Leu425Gln)
c.1307T>A (p.Leu436Gln)
c.1295T>A (p.Leu432Gln)
c.1286T>A (p.Leu429Gln)
c.1187T>A (p.Leu396Gln)
c.1175T>A (p.Leu392Gln)
c.572T>A (p.Leu191Gln)
19g.18069582G>ACA506030092IL12RB1c.1153C>T (p.Leu385=)
c.1273C>T (p.Leu425=)
c.1306C>T (p.Leu436=)
c.1294C>T (p.Leu432=)
c.1285C>T (p.Leu429=)
c.1186C>T (p.Leu396=)
c.1174C>T (p.Leu392=)
c.571C>T (p.Leu191=)
19g.18069582G>CCA306162784IL12RB1c.1153C>G (p.Leu385Val)
c.1273C>G (p.Leu425Val)
c.1306C>G (p.Leu436Val)
c.1294C>G (p.Leu432Val)
c.1285C>G (p.Leu429Val)
c.1186C>G (p.Leu396Val)
c.1174C>G (p.Leu392Val)
c.571C>G (p.Leu191Val)
 dbSNP gnomAD v4
19g.18069582G=CA2326169835IL12RB1c.1153C= (p.Leu385=)
c.1273C= (p.Leu425=)
c.1306C= (p.Leu436=)
c.1294C= (p.Leu432=)
c.1285C= (p.Leu429=)
c.1186C= (p.Leu396=)
c.1174C= (p.Leu392=)
c.571C= (p.Leu191=)
19g.18069582G>TCA404778548IL12RB1c.1153C>A (p.Leu385Met)
c.1273C>A (p.Leu425Met)
c.1306C>A (p.Leu436Met)
c.1294C>A (p.Leu432Met)
c.1285C>A (p.Leu429Met)
c.1186C>A (p.Leu396Met)
c.1174C>A (p.Leu392Met)
c.571C>A (p.Leu191Met)
 gnomAD v4
19g.18069583G>ACA506030093IL12RB1c.1152C>T (p.Ser384=)
c.1272C>T (p.Ser424=)
c.1305C>T (p.Ser435=)
c.1293C>T (p.Ser431=)
c.1284C>T (p.Ser428=)
c.1185C>T (p.Ser395=)
c.1173C>T (p.Ser391=)
c.570C>T (p.Ser190=)
19g.18069583G>CCA404778549IL12RB1c.1152C>G (p.Ser384Arg)
c.1272C>G (p.Ser424Arg)
c.1305C>G (p.Ser435Arg)
c.1293C>G (p.Ser431Arg)
c.1284C>G (p.Ser428Arg)
c.1185C>G (p.Ser395Arg)
c.1173C>G (p.Ser391Arg)
c.570C>G (p.Ser190Arg)
 gnomAD v4
19g.18069583G=CA2326169836IL12RB1c.1152C= (p.Ser384=)
c.1272C= (p.Ser424=)
c.1305C= (p.Ser435=)
c.1293C= (p.Ser431=)
c.1284C= (p.Ser428=)
c.1185C= (p.Ser395=)
c.1173C= (p.Ser391=)
c.570C= (p.Ser190=)
19g.18069583G>TCA306162786IL12RB1c.1152C>A (p.Ser384Arg)
c.1272C>A (p.Ser424Arg)
c.1305C>A (p.Ser435Arg)
c.1293C>A (p.Ser431Arg)
c.1284C>A (p.Ser428Arg)
c.1185C>A (p.Ser395Arg)
c.1173C>A (p.Ser391Arg)
c.570C>A (p.Ser190Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18069584C>ACA404778552IL12RB1c.1151G>T (p.Ser384Ile)
c.1271G>T (p.Ser424Ile)
c.1304G>T (p.Ser435Ile)
c.1292G>T (p.Ser431Ile)
c.1283G>T (p.Ser428Ile)
c.1184G>T (p.Ser395Ile)
c.1172G>T (p.Ser391Ile)
c.569G>T (p.Ser190Ile)
19g.18069584C=CA2326169837IL12RB1c.1151G= (p.Ser384=)
c.1271G= (p.Ser424=)
c.1304G= (p.Ser435=)
c.1292G= (p.Ser431=)
c.1283G= (p.Ser428=)
c.1184G= (p.Ser395=)
c.1172G= (p.Ser391=)
c.569G= (p.Ser190=)
19g.18069584C>GCA404778554IL12RB1c.1151G>C (p.Ser384Thr)
c.1271G>C (p.Ser424Thr)
c.1304G>C (p.Ser435Thr)
c.1292G>C (p.Ser431Thr)
c.1283G>C (p.Ser428Thr)
c.1184G>C (p.Ser395Thr)
c.1172G>C (p.Ser391Thr)
c.569G>C (p.Ser190Thr)
19g.18069584C>TCA9304947IL12RB1c.1151G>A (p.Ser384Asn)
c.1271G>A (p.Ser424Asn)
c.1304G>A (p.Ser435Asn)
c.1292G>A (p.Ser431Asn)
c.1283G>A (p.Ser428Asn)
c.1184G>A (p.Ser395Asn)
c.1172G>A (p.Ser391Asn)
c.569G>A (p.Ser190Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18069585T>ACA404778556IL12RB1c.1150A>T (p.Ser384Cys)
c.1270A>T (p.Ser424Cys)
c.1303A>T (p.Ser435Cys)
c.1291A>T (p.Ser431Cys)
c.1282A>T (p.Ser428Cys)
c.1183A>T (p.Ser395Cys)
c.1171A>T (p.Ser391Cys)
c.568A>T (p.Ser190Cys)
19g.18069585T>CCA404778558IL12RB1c.1150A>G (p.Ser384Gly)
c.1270A>G (p.Ser424Gly)
c.1303A>G (p.Ser435Gly)
c.1291A>G (p.Ser431Gly)
c.1282A>G (p.Ser428Gly)
c.1183A>G (p.Ser395Gly)
c.1171A>G (p.Ser391Gly)
c.568A>G (p.Ser190Gly)
 gnomAD v4
19g.18069585T>GCA404778560IL12RB1c.1150A>C (p.Ser384Arg)
c.1270A>C (p.Ser424Arg)
c.1303A>C (p.Ser435Arg)
c.1291A>C (p.Ser431Arg)
c.1282A>C (p.Ser428Arg)
c.1183A>C (p.Ser395Arg)
c.1171A>C (p.Ser391Arg)
c.568A>C (p.Ser190Arg)
19g.18069585dupCA2583510286IL12RB1c.1150dup (p.Ser384LysfsTer?)
c.1270dup (p.Ser424LysfsTer?)
c.1303dup (p.Ser435LysfsTer?)
c.1291dup (p.Ser431LysfsTer?)
c.1282dup (p.Ser428LysfsTer?)
c.1183dup (p.Ser395LysfsTer?)
c.1171dup (p.Ser391LysfsTer?)
c.568dup (p.Ser190LysfsTer?)
 gnomAD v4
19g.18069586G>ACA9304948IL12RB1c.1149C>T (p.Cys383=)
c.1269C>T (p.Cys423=)
c.1302C>T (p.Cys434=)
c.1290C>T (p.Cys430=)
c.1281C>T (p.Cys427=)
c.1182C>T (p.Cys394=)
c.1170C>T (p.Cys390=)
c.567C>T (p.Cys189=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069586G>CCA404778562IL12RB1c.1149C>G (p.Cys383Trp)
c.1269C>G (p.Cys423Trp)
c.1302C>G (p.Cys434Trp)
c.1290C>G (p.Cys430Trp)
c.1281C>G (p.Cys427Trp)
c.1182C>G (p.Cys394Trp)
c.1170C>G (p.Cys390Trp)
c.567C>G (p.Cys189Trp)
19g.18069586G=CA2326169838IL12RB1c.1149C= (p.Cys383=)
c.1269C= (p.Cys423=)
c.1302C= (p.Cys434=)
c.1290C= (p.Cys430=)
c.1281C= (p.Cys427=)
c.1182C= (p.Cys394=)
c.1170C= (p.Cys390=)
c.567C= (p.Cys189=)
19g.18069586G>TCA404778564IL12RB1c.1149C>A (p.Cys383Ter)
c.1269C>A (p.Cys423Ter)
c.1302C>A (p.Cys434Ter)
c.1290C>A (p.Cys430Ter)
c.1281C>A (p.Cys427Ter)
c.1182C>A (p.Cys394Ter)
c.1170C>A (p.Cys390Ter)
c.567C>A (p.Cys189Ter)
 gnomAD v4
19g.18069587C>ACA404778566IL12RB1c.1148G>T (p.Cys383Phe)
c.1268G>T (p.Cys423Phe)
c.1301G>T (p.Cys434Phe)
c.1289G>T (p.Cys430Phe)
c.1280G>T (p.Cys427Phe)
c.1181G>T (p.Cys394Phe)
c.1169G>T (p.Cys390Phe)
c.566G>T (p.Cys189Phe)
19g.18069587C=CA2326169839IL12RB1c.1148G= (p.Cys383=)
c.1268G= (p.Cys423=)
c.1301G= (p.Cys434=)
c.1289G= (p.Cys430=)
c.1280G= (p.Cys427=)
c.1181G= (p.Cys394=)
c.1169G= (p.Cys390=)
c.566G= (p.Cys189=)
19g.18069587C>GCA404778569IL12RB1c.1148G>C (p.Cys383Ser)
c.1268G>C (p.Cys423Ser)
c.1301G>C (p.Cys434Ser)
c.1289G>C (p.Cys430Ser)
c.1280G>C (p.Cys427Ser)
c.1181G>C (p.Cys394Ser)
c.1169G>C (p.Cys390Ser)
c.566G>C (p.Cys189Ser)
19g.18069587C>TCA404778567IL12RB1c.1148G>A (p.Cys383Tyr)
c.1268G>A (p.Cys423Tyr)
c.1301G>A (p.Cys434Tyr)
c.1289G>A (p.Cys430Tyr)
c.1280G>A (p.Cys427Tyr)
c.1181G>A (p.Cys394Tyr)
c.1169G>A (p.Cys390Tyr)
c.566G>A (p.Cys189Tyr)
 dbSNP gnomAD v2 gnomAD v4
19g.18069588A>CCA404778571IL12RB1c.1147T>G (p.Cys383Gly)
c.1267T>G (p.Cys423Gly)
c.1300T>G (p.Cys434Gly)
c.1288T>G (p.Cys430Gly)
c.1279T>G (p.Cys427Gly)
c.1180T>G (p.Cys394Gly)
c.1168T>G (p.Cys390Gly)
c.565T>G (p.Cys189Gly)
19g.18069588A>GCA404778572IL12RB1c.1147T>C (p.Cys383Arg)
c.1267T>C (p.Cys423Arg)
c.1300T>C (p.Cys434Arg)
c.1288T>C (p.Cys430Arg)
c.1279T>C (p.Cys427Arg)
c.1180T>C (p.Cys394Arg)
c.1168T>C (p.Cys390Arg)
c.565T>C (p.Cys189Arg)
 gnomAD v4
19g.18069588A>TCA404778573IL12RB1c.1147T>A (p.Cys383Ser)
c.1267T>A (p.Cys423Ser)
c.1300T>A (p.Cys434Ser)
c.1288T>A (p.Cys430Ser)
c.1279T>A (p.Cys427Ser)
c.1180T>A (p.Cys394Ser)
c.1168T>A (p.Cys390Ser)
c.565T>A (p.Cys189Ser)
19g.18069589G>ACA506030101IL12RB1c.1146C>T (p.Thr382=)
c.1266C>T (p.Thr422=)
c.1299C>T (p.Thr433=)
c.1287C>T (p.Thr429=)
c.1278C>T (p.Thr426=)
c.1179C>T (p.Thr393=)
c.1167C>T (p.Thr389=)
c.564C>T (p.Thr188=)
19g.18069589G>CCA506030102IL12RB1c.1146C>G (p.Thr382=)
c.1266C>G (p.Thr422=)
c.1299C>G (p.Thr433=)
c.1287C>G (p.Thr429=)
c.1278C>G (p.Thr426=)
c.1179C>G (p.Thr393=)
c.1167C>G (p.Thr389=)
c.564C>G (p.Thr188=)
19g.18069589G>TCA506030103IL12RB1c.1146C>A (p.Thr382=)
c.1266C>A (p.Thr422=)
c.1299C>A (p.Thr433=)
c.1287C>A (p.Thr429=)
c.1278C>A (p.Thr426=)
c.1179C>A (p.Thr393=)
c.1167C>A (p.Thr389=)
c.564C>A (p.Thr188=)
19g.18069590G>ACA9304949IL12RB1c.1145C>T (p.Thr382Ile)
c.1265C>T (p.Thr422Ile)
c.1298C>T (p.Thr433Ile)
c.1286C>T (p.Thr429Ile)
c.1277C>T (p.Thr426Ile)
c.1178C>T (p.Thr393Ile)
c.1166C>T (p.Thr389Ile)
c.563C>T (p.Thr188Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18069590G>CCA404778574IL12RB1c.1145C>G (p.Thr382Ser)
c.1265C>G (p.Thr422Ser)
c.1298C>G (p.Thr433Ser)
c.1286C>G (p.Thr429Ser)
c.1277C>G (p.Thr426Ser)
c.1178C>G (p.Thr393Ser)
c.1166C>G (p.Thr389Ser)
c.563C>G (p.Thr188Ser)
 ClinVar dbSNP gnomAD v4
19g.18069590G=CA2326169840IL12RB1c.1145C= (p.Thr382=)
c.1265C= (p.Thr422=)
c.1298C= (p.Thr433=)
c.1286C= (p.Thr429=)
c.1277C= (p.Thr426=)
c.1178C= (p.Thr393=)
c.1166C= (p.Thr389=)
c.563C= (p.Thr188=)
19g.18069590G>TCA404778575IL12RB1c.1145C>A (p.Thr382Asn)
c.1265C>A (p.Thr422Asn)
c.1298C>A (p.Thr433Asn)
c.1286C>A (p.Thr429Asn)
c.1277C>A (p.Thr426Asn)
c.1178C>A (p.Thr393Asn)
c.1166C>A (p.Thr389Asn)
c.563C>A (p.Thr188Asn)
 gnomAD v4
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)

Number of alleles fetched