Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18069605T>A | CA404778640 | IL12RB1 | c.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) | |
19 | g.18069605T>C | CA404778642 | IL12RB1 | c.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) | |
19 | g.18069605T>G | CA404778639 | IL12RB1 | c.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) | |
19 | g.18069606C>A | CA9304957 | IL12RB1 | c.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 |
19 | g.18069606C= | CA2326169855 | IL12RB1 | c.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=) | |
19 | g.18069606C>G | CA404778650 | IL12RB1 | c.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) | |
19 | g.18069606C>T | CA404778654 | IL12RB1 | c.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) | |
19 | g.18069607C>A | CA404778668 | IL12RB1 | c.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) | |
19 | g.18069607C= | CA2326169856 | IL12RB1 | c.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=) | |
19 | g.18069607C>G | CA404778672 | IL12RB1 | c.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) | |
19 | g.18069607C>T | CA9304958 | IL12RB1 | c.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 |
19 | g.18069608T>A | CA404778674 | IL12RB1 | c.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) | |
19 | g.18069608T>C | CA404778677 | IL12RB1 | c.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) | |
19 | g.18069608T>G | CA404778679 | IL12RB1 | c.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 |
19 | g.18069608T= | CA2326169857 | IL12RB1 | c.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=) | |
19 | g.18069609G>A | CA119242 | IL12RB1 | c.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 |
19 | g.18069609G>C | CA404778681 | IL12RB1 | c.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) | |
19 | g.18069609G= | CA2326169858 | IL12RB1 | c.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=) | |
19 | g.18069609G>T | CA404778683 | IL12RB1 | c.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 |
19 | g.18069610G>A | CA506030155 | IL12RB1 | c.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 |
19 | g.18069610G>C | CA506030156 | IL12RB1 | c.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=) | |
19 | g.18069610G>T | CA506030157 | IL12RB1 | c.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 |
19 | g.18069611C>A | CA404778685 | IL12RB1 | c.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) | |
19 | g.18069611C>G | CA404778689 | IL12RB1 | c.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 |
19 | g.18069611C>T | CA404778692 | IL12RB1 | c.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) | |
19 | g.18069612C>A | CA404778699 | IL12RB1 | c.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) | |
19 | g.18069612C>G | CA404778695 | IL12RB1 | c.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) | |
19 | g.18069612C>T | CA404778697 | IL12RB1 | c.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 |
19 | g.18069613C>A | CA506030162 | IL12RB1 | c.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=) | |
19 | g.18069613C= | CA2326169859 | IL12RB1 | c.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=) | |
19 | g.18069613C>G | CA506030163 | IL12RB1 | c.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=) | |
19 | g.18069613C>T | CA506030164 | IL12RB1 | c.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 |
19 | g.18069614A= | CA2326169860 | IL12RB1 | c.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=) | |
19 | g.18069614A>C | CA404778701 | IL12RB1 | c.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) | |
19 | g.18069614A>G | CA9304959 | IL12RB1 | c.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 |
19 | g.18069614A>T | CA404778705 | IL12RB1 | c.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) | |
19 | g.18069615C>A | CA404778708 | IL12RB1 | c.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) | |
19 | g.18069615C>G | CA404778711 | IL12RB1 | c.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) | |
19 | g.18069615C>T | CA404778714 | IL12RB1 | c.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 |
19 | g.18069616A>C | CA506030170 | IL12RB1 | c.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=) | |
19 | g.18069616A>G | CA506030174 | IL12RB1 | c.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 |
19 | g.18069616A>T | CA506030172 | IL12RB1 | c.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=) | |
19 | g.18069617G>A | CA404778715 | IL12RB1 | c.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) | |
19 | g.18069617G>C | CA404778718 | IL12RB1 | c.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) | |
19 | g.18069617G>T | CA404778721 | IL12RB1 | c.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) | |
19 | g.18069618G>A | CA404778723 | IL12RB1 | c.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) | |
19 | g.18069618G>C | CA404778725 | IL12RB1 | c.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) | |
19 | g.18069618G>T | CA404778727 | IL12RB1 | c.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) | |
19 | g.18069619C>A | CA404778733 | IL12RB1 | c.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) | |
19 | g.18069619C= | CA2326169861 | IL12RB1 | c.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=) | |
19 | g.18069619C>G | CA404778729 | IL12RB1 | c.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) | |
19 | g.18069619C>T | CA506030180 | IL12RB1 | c.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 |
19 | g.18069620T>A | CA404778735 | IL12RB1 | c.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) | |
19 | g.18069620T>C | CA404778738 | IL12RB1 | c.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) | |
19 | g.18069620T>G | CA404778736 | IL12RB1 | c.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) | |
19 | g.18069621G>A | CA404778740 | IL12RB1 | c.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) | |
19 | g.18069621G>C | CA404778742 | IL12RB1 | c.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) | |
19 | g.18069621G= | CA2326169862 | IL12RB1 | c.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=) | |
19 | g.18069621G>T | CA404778743 | IL12RB1 | c.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) | |
19 | g.18069622C>A | CA404778744 | IL12RB1 | c.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 |
19 | g.18069622C>G | CA404778745 | IL12RB1 | c.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) | |
19 | g.18069622C>T | CA404778746 | IL12RB1 | c.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 |
19 | g.18069623dup | CA994181350 | IL12RB1 | c.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 |
19 | g.18069623C>A | CA404778747 | IL12RB1 | c.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) | |
19 | g.18069623C>G | CA404778749 | IL12RB1 | c.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) | |
19 | g.18069623C>T | CA404778750 | IL12RB1 | c.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) | |
19 | g.18069624A>C | CA404778753 | IL12RB1 | c.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) | |
19 | g.18069624A>G | CA404778755 | IL12RB1 | c.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) | |
19 | g.18069624A>T | CA404778757 | IL12RB1 | c.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) | |
19 | g.18069625T>A | CA404778759 | IL12RB1 | c.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) | |
19 | g.18069625T>C | CA506030190 | IL12RB1 | c.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=) | |
19 | g.18069625T>G | CA404778761 | IL12RB1 | c.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) | |
19 | g.18069626T>A | CA404778763 | IL12RB1 | c.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) | |
19 | g.18069626T>C | CA306162842 | IL12RB1 | c.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 |
19 | g.18069626T>G | CA404778765 | IL12RB1 | c.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 |
19 | g.18069626T= | CA2326169863 | IL12RB1 | c.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=) | |
19 | g.18069627C>A | CA404778768 | IL12RB1 | c.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) | |
19 | g.18069627C>G | CA404778770 | IL12RB1 | c.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) | |
19 | g.18069627C>T | CA404778772 | IL12RB1 | c.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) | |
19 | g.18069628A>C | CA404778775 | IL12RB1 | c.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) | |
19 | g.18069628A>G | CA506030200 | IL12RB1 | c.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=) | |
19 | g.18069628A>T | CA506030198 | IL12RB1 | c.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=) | |
19 | g.18069629A= | CA2326169864 | IL12RB1 | c.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=) | |
19 | g.18069629A>C | CA404778777 | IL12RB1 | c.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) | |
19 | g.18069629A>G | CA404778779 | IL12RB1 | c.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 |
19 | g.18069629A>T | CA404778780 | IL12RB1 | c.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) | |
19 | g.18069630T>A | CA404778782 | IL12RB1 | c.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) | |
19 | g.18069630T>C | CA404778784 | IL12RB1 | c.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 |
19 | g.18069630T>G | CA404778786 | IL12RB1 | c.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) | |
19 | g.18069630T= | CA2326169865 | IL12RB1 | c.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=) | |
19 | g.18069631G>A | CA506030204 | IL12RB1 | c.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 |
19 | g.18069631G>C | CA404778788 | IL12RB1 | c.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) | |
19 | g.18069631G>T | CA404778790 | IL12RB1 | c.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) | |
19 | g.18069632C>A | CA404778792 | IL12RB1 | c.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) | |
19 | g.18069632C= | CA2326169866 | IL12RB1 | c.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=) | |
19 | g.18069632C>G | CA404778794 | IL12RB1 | c.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 |
19 | g.18069632C>T | CA404778793 | IL12RB1 | c.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 |
19 | g.18069633A>C | CA404778797 | IL12RB1 | c.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) | |
19 | g.18069633A>G | CA404778799 | IL12RB1 | c.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) | |
19 | g.18069633A>T | CA404778800 | IL12RB1 | c.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) | |
19 | g.18069634A= | CA2326169867 | IL12RB1 | c.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=) | |
19 | g.18069634A>C | CA404778804 | IL12RB1 | c.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) | |
19 | g.18069634A>G | CA506030211 | IL12RB1 | c.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 |
19 | g.18069634A>T | CA404778806 | IL12RB1 | c.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) | |
19 | g.18069635T>A | CA404778807 | IL12RB1 | c.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 |
19 | g.18069635T>C | CA404778809 | IL12RB1 | c.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 |
19 | g.18069635T>G | CA404778811 | IL12RB1 | c.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) | |
19 | g.18069635T= | CA2326169868 | IL12RB1 | c.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=) | |
19 | g.18069636A= | CA2326169869 | IL12RB1 | c.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=) | |
19 | g.18069636A>C | CA404778813 | IL12RB1 | c.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) | |
19 | g.18069636A>G | CA404778815 | IL12RB1 | c.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 |
19 | g.18069636A>T | CA404778817 | IL12RB1 | c.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) | |
19 | g.18069637C>A | CA506030214 | IL12RB1 | c.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=) | |
19 | g.18069637C= | CA2326169870 | IL12RB1 | c.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=) | |
19 | g.18069637C>G | CA506030216 | IL12RB1 | c.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=) | |
19 | g.18069637C>T | CA9304960 | IL12RB1 | c.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 |
19 | g.18069638G>A | CA9304961 | IL12RB1 | c.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 |
19 | g.18069638G>C | CA404778820 | IL12RB1 | c.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 |
19 | g.18069638G= | CA2326169871 | IL12RB1 | c.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=) | |
19 | g.18069638G>T | CA404778824 | IL12RB1 | c.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 |
19 | g.18069639T>A | CA404778828 | IL12RB1 | c.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) | |
19 | g.18069639T>C | CA404778830 | IL12RB1 | c.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) | |
19 | g.18069639T>G | CA404778831 | IL12RB1 | c.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) | |
19 | g.18069640C>A | CA404778832 | IL12RB1 | c.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) | |
19 | g.18069640C= | CA2326169872 | IL12RB1 | c.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=) | |
19 | g.18069640C>G | CA404778834 | IL12RB1 | c.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) | |
19 | g.18069640C>T | CA404778836 | IL12RB1 | c.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 |
19 | g.18069641A= | CA2326169873 | IL12RB1 | c.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=) | |
19 | g.18069641A>C | CA404778838 | IL12RB1 | c.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) | |
19 | g.18069641A>G | CA9304962 | IL12RB1 | c.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 |
19 | g.18069641A>T | CA404778840 | IL12RB1 | c.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) | |
19 | g.18069642T>A | CA404778841 | IL12RB1 | c.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) | |
19 | g.18069642T>C | CA9304963 | IL12RB1 | c.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 |
19 | g.18069642T>G | CA404778843 | IL12RB1 | c.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) | |
19 | g.18069642T= | CA2326169874 | IL12RB1 | c.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=) | |
19 | g.18069643G>A | CA506030223 | IL12RB1 | c.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 |
19 | g.18069643G>C | CA404778847 | IL12RB1 | c.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) | |
19 | g.18069643G= | CA2326169875 | IL12RB1 | c.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=) | |
19 | g.18069643G>T | CA404778845 | IL12RB1 | c.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 |
19 | g.18069644C>A | CA404778850 | IL12RB1 | c.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) | |
19 | g.18069644C>G | CA404778854 | IL12RB1 | c.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) | |
19 | g.18069644C>T | CA404778852 | IL12RB1 | c.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 |
19 | g.18069645T>A | CA404778857 | IL12RB1 | c.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) | |
19 | g.18069645T>C | CA404778858 | IL12RB1 | c.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) | |
19 | g.18069645T>G | CA404778860 | IL12RB1 | c.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) | |
19 | g.18069646C>A | CA404778863 | IL12RB1 | c.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) | |
19 | g.18069646C>G | CA404778864 | IL12RB1 | c.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) | |
19 | g.18069646C>T | CA506030233 | IL12RB1 | c.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 |
19 | g.18069647T>A | CA404778866 | IL12RB1 | c.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 |
19 | g.18069647T>C | CA306162859 | IL12RB1 | c.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 |
19 | g.18069647T>G | CA404778869 | IL12RB1 | c.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) | |
19 | g.18069647T= | CA2326169876 | IL12RB1 | c.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=) | |
19 | g.18069648G>A | CA404778873 | IL12RB1 | c.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) | |
19 | g.18069648G>C | CA404778874 | IL12RB1 | c.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) | |
19 | g.18069648G>T | CA404778875 | IL12RB1 | c.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) | |
19 | g.18069649A>C | CA506030238 | IL12RB1 | c.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=) | |
19 | g.18069649A>G | CA506030241 | IL12RB1 | c.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=) | |
19 | g.18069649A>T | CA506030242 | IL12RB1 | c.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=) | |
19 | g.18069650G>A | CA404778882 | IL12RB1 | c.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 |
19 | g.18069650G>C | CA404778881 | IL12RB1 | c.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) | |
19 | g.18069650G>T | CA404778878 | IL12RB1 | c.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 |
19 | g.18069651C>A | CA404778885 | IL12RB1 | c.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) | |
19 | g.18069651C>G | CA404778887 | IL12RB1 | c.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) | |
19 | g.18069651C>T | CA404778888 | IL12RB1 | c.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) | |
19 | g.18069652C>A | CA506030245 | IL12RB1 | c.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=) | |
19 | g.18069652C>G | CA506030248 | IL12RB1 | c.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=) | |
19 | g.18069652C>T | CA506030250 | IL12RB1 | c.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 |
19 | g.18069653C>A | CA404778891 | IL12RB1 | c.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) | |
19 | g.18069653C= | CA2326169877 | IL12RB1 | c.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=) | |
19 | g.18069653C>G | CA404778893 | IL12RB1 | c.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) | |
19 | g.18069653C>T | CA9304964 | IL12RB1 | c.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 |
19 | g.18069654G>A | CA9304965 | IL12RB1 | c.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 |
19 | g.18069654G>C | CA9304966 | IL12RB1 | c.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 |
19 | g.18069654G= | CA2326169878 | IL12RB1 | c.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=) | |
19 | g.18069654G>T | CA9304967 | IL12RB1 | c.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 |
19 | g.18069655G>A | CA506030256 | IL12RB1 | c.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 |
19 | g.18069655G>C | CA506030258 | IL12RB1 | c.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=) | |
19 | g.18069655G= | CA2326169879 | IL12RB1 | c.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=) | |
19 | g.18069655G>T | CA506030259 | IL12RB1 | c.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=) | |
19 | g.18069656G>A | CA306162869 | IL12RB1 | c.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 |
19 | g.18069656G>C | CA404778898 | IL12RB1 | c.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) | |
19 | g.18069656G= | CA2326169880 | IL12RB1 | c.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=) | |
19 | g.18069656G>T | CA404778901 | IL12RB1 | c.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 |
19 | g.18069657C>A | CA404778903 | IL12RB1 | c.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) | |
19 | g.18069657C>G | CA404778907 | IL12RB1 | c.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) | |
19 | g.18069657C>T | CA404778905 | IL12RB1 | c.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) | |
19 | g.18069658T>A | CA506030262 | IL12RB1 | c.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=) | |
19 | g.18069658T>C | CA506030264 | IL12RB1 | c.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 |
19 | g.18069658T>G | CA506030261 | IL12RB1 | c.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 |
19 | g.18069659G>A | CA404778909 | IL12RB1 | c.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) | |
19 | g.18069659G>C | CA404778913 | IL12RB1 | c.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) | |
19 | g.18069659G>T | CA404778911 | IL12RB1 | c.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) | |
19 | g.18069660G>A | CA404778915 | IL12RB1 | c.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 |
19 | g.18069660G>C | CA404778920 | IL12RB1 | c.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 |
19 | g.18069660G= | CA2326169881 | IL12RB1 | c.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=) | |
19 | g.18069660G>T | CA404778917 | IL12RB1 | c.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 |
19 | g.18069661C>A | CA404778922 | IL12RB1 | c.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) | |
19 | g.18069661C>G | CA404778924 | IL12RB1 | c.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) | |
19 | g.18069661C>T | CA404778926 | IL12RB1 | c.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 |
19 | g.18069662C>A | CA404778929 | IL12RB1 | c.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) | |
19 | g.18069662C>G | CA404778931 | IL12RB1 | c.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) | |
19 | g.18069662C>T | CA404778933 | IL12RB1 | c.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) | |
19 | g.18069663A>C | CA404778935 | IL12RB1 | c.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) | |
19 | g.18069663A>G | CA404778937 | IL12RB1 | c.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) | |
19 | g.18069663A>T | CA404778939 | IL12RB1 | c.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) | |
19 | g.18069664A= | CA2326169882 | IL12RB1 | c.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=) | |
19 | g.18069664A>C | CA404778941 | IL12RB1 | c.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 |
19 | g.18069664A>G | CA506030273 | IL12RB1 | c.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=) | |
19 | g.18069664A>T | CA404778942 | IL12RB1 | c.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) | |
19 | g.18069665T>A | CA404778944 | IL12RB1 | c.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) | |
19 | g.18069665T>C | CA9304968 | IL12RB1 | c.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 |
19 | g.18069665T>G | CA404778946 | IL12RB1 | c.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) | |
19 | g.18069665T= | CA2326169883 | IL12RB1 | c.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=) | |
19 | g.18069666A= | CA2326169884 | IL12RB1 | c.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=) | |
19 | g.18069666A>C | CA404778949 | IL12RB1 | c.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) | |
19 | g.18069666A>G | CA9304969 | IL12RB1 | c.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 |
19 | g.18069666A>T | CA404778952 | IL12RB1 | c.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) | |
19 | g.18069667C>A | CA404778954 | IL12RB1 | c.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) | |
19 | g.18069667C= | CA2326169885 | IL12RB1 | c.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=) | |
19 | g.18069667C>G | CA9304970 | IL12RB1 | c.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 |
19 | g.18069667C>T | CA404778957 | IL12RB1 | c.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) | |
19 | g.18069668A= | CA2326169886 | IL12RB1 | c.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=) | |
19 | g.18069668A>C | CA404778959 | IL12RB1 | c.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 |
19 | g.18069668A>G | CA404778961 | IL12RB1 | c.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) | |
19 | g.18069668A>T | CA404778964 | IL12RB1 | c.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 |
19 | g.18069669T>A | CA404778968 | IL12RB1 | c.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) | |
19 | g.18069669T>C | CA404778970 | IL12RB1 | c.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 |
19 | g.18069669T>G | CA404778966 | IL12RB1 | c.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) | |
19 | g.18069669T= | CA2326169887 | IL12RB1 | c.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=) | |
19 | g.18069673_18069675del | CA2580613090 | IL12RB1 | c.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 |
19 | g.18069670G>A | CA506030285 | IL12RB1 | c.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=) | |
19 | g.18069670G>C | CA506030286 | IL12RB1 | c.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=) | |
19 | g.18069670G>T | CA506030287 | IL12RB1 | c.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 |
19 | g.18069671del | CA2583510287 | IL12RB1 | c.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 |
19 | g.18069671G>A | CA404778972 | IL12RB1 | c.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) | |
19 | g.18069671G>C | CA404778974 | IL12RB1 | c.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 |
19 | g.18069671G>T | CA404778976 | IL12RB1 | c.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) | |
19 | g.18069672T>A | CA404778979 | IL12RB1 | c.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) | |
19 | g.18069672T>C | CA404778981 | IL12RB1 | c.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) | |
19 | g.18069672T>G | CA404778982 | IL12RB1 | c.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 |
19 | g.18069672T= | CA2326169888 | IL12RB1 | c.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=) | |
19 | g.18069673G>A | CA9304971 | IL12RB1 | c.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 |
19 | g.18069673G>C | CA506030293 | IL12RB1 | c.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=) | |
19 | g.18069673G= | CA2326169889 | IL12RB1 | c.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=) | |
19 | g.18069673G>T | CA506030294 | IL12RB1 | c.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=) | |
19 | g.18069674G>A | CA404778986 | IL12RB1 | c.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) | |
19 | g.18069674G>C | CA404778988 | IL12RB1 | c.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) | |
19 | g.18069674G>T | CA404778990 | IL12RB1 | c.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 |
19 | g.18069675T>A | CA404778995 | IL12RB1 | c.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) | |
19 | g.18069675T>C | CA404778996 | IL12RB1 | c.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) | |
19 | g.18069675T>G | CA404778998 | IL12RB1 | c.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) | |
19 | g.18069676C>A | CA506030296 | IL12RB1 | c.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 |
19 | g.18069676C= | CA2326169890 | IL12RB1 | c.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=) | |
19 | g.18069676C>G | CA506030298 | IL12RB1 | c.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=) | |
19 | g.18069676C>T | CA506030300 | IL12RB1 | c.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 |
19 | g.18069677C>A | CA404779000 | IL12RB1 | c.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) | |
19 | g.18069677C= | CA2326169891 | IL12RB1 | c.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=) | |
19 | g.18069677C>G | CA404779004 | IL12RB1 | c.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) | |
19 | g.18069677C>T | CA9304972 | IL12RB1 | c.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 |
19 | g.18069678C>A | CA404779006 | IL12RB1 | c.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 |
19 | g.18069678C= | CA2326169892 | IL12RB1 | c.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=) | |
19 | g.18069678C>G | CA404779007 | IL12RB1 | c.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) | |
19 | g.18069678C>T | CA404779010 | IL12RB1 | c.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 |
19 | g.18069679G>A | CA9304973 | IL12RB1 | c.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 |
19 | g.18069679G>C | CA9304974 | IL12RB1 | c.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 |
19 | g.18069679G= | CA2326169893 | IL12RB1 | c.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=) | |
19 | g.18069679G>T | CA404779014 | IL12RB1 | c.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 |
19 | g.18069680T>A | CA404779016 | IL12RB1 | c.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) | |
19 | g.18069680T>C | CA404779018 | IL12RB1 | c.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 |
19 | g.18069680T>G | CA404779020 | IL12RB1 | c.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) | |
19 | g.18069681T>A | CA404779022 | IL12RB1 | c.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 |
19 | g.18069681T>C | CA404779024 | IL12RB1 | c.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) | |
19 | g.18069681T>G | CA404779026 | IL12RB1 | c.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) | |
19 | g.18069682G>A | CA506030310 | IL12RB1 | c.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=) | |
19 | g.18069682G>C | CA506030309 | IL12RB1 | c.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=) | |
19 | g.18069682G>T | CA506030308 | IL12RB1 | c.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=) | |
19 | g.18069683G>A | CA404779031 | IL12RB1 | c.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) | |
19 | g.18069683G>C | CA404779033 | IL12RB1 | c.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) | |
19 | g.18069683G>T | CA404779028 | IL12RB1 | c.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) | |
19 | g.18069684T>A | CA404779039 | IL12RB1 | c.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) | |
19 | g.18069684T>C | CA404779035 | IL12RB1 | c.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 |
19 | g.18069684T>G | CA404779037 | IL12RB1 | c.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) | |
19 | g.18069685T>A | CA506030313 | IL12RB1 | c.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=) | |
19 | g.18069685T>C | CA506030316 | IL12RB1 | c.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=) | |
19 | g.18069685T>G | CA506030315 | IL12RB1 | c.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=) | |
19 | g.18069686C>A | CA404779042 | IL12RB1 | c.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) | |
19 | g.18069686C>G | CA404779044 | IL12RB1 | c.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) | |
19 | g.18069686C>T | CA404779046 | IL12RB1 | c.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) | |
19 | g.18069687C>A | CA404779048 | IL12RB1 | c.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) | |
19 | g.18069687C= | CA2326169894 | IL12RB1 | c.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=) | |
19 | g.18069687C>G | CA404779051 | IL12RB1 | c.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) | |
19 | g.18069687C>T | CA9304975 | IL12RB1 | c.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 |
19 | g.18069688G>A | CA506030321 | IL12RB1 | c.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 |
19 | g.18069688G>C | CA506030322 | IL12RB1 | c.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=) | |
19 | g.18069688G= | CA2326169895 | IL12RB1 | c.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=) | |
19 | g.18069688G>T | CA506030323 | IL12RB1 | c.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=) | |
19 | g.18069689A>C | CA404779052 | IL12RB1 | c.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) | |
19 | g.18069689A>G | CA404779054 | IL12RB1 | c.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) | |
19 | g.18069689A>T | CA404779056 | IL12RB1 | c.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) | |
19 | g.18069690C>A | CA404779058 | IL12RB1 | c.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 |
19 | g.18069690C= | CA2326169896 | IL12RB1 | c.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=) | |
19 | g.18069690C>G | CA404779060 | IL12RB1 | c.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) | |
19 | g.18069690C>T | CA9304976 | IL12RB1 | c.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 |
19 | g.18069691G>A | CA506030330 | IL12RB1 | c.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 |
19 | g.18069691G>C | CA404779063 | IL12RB1 | c.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) | |
19 | g.18069691G= | CA2326169897 | IL12RB1 | c.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=) | |
19 | g.18069691G>T | CA404779064 | IL12RB1 | c.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 |
19 | g.18069692C>A | CA404779066 | IL12RB1 | c.1043G>T (p.Ser348Ile) c.1163G>T (p.Ser388Ile) c.1196G>T (p.Ser399Ile) c.1184G>T (p.Ser395Ile) c.1175G>T (p.Ser392Ile) c.1076G>T (p.Ser359Ile) c.1064G>T (p.Ser355Ile) c.461G>T (p.Ser154Ile) | |
19 | g.18069692C>G | CA404779068 | IL12RB1 | c.1043G>C (p.Ser348Thr) c.1163G>C (p.Ser388Thr) c.1196G>C (p.Ser399Thr) c.1184G>C (p.Ser395Thr) c.1175G>C (p.Ser392Thr) c.1076G>C (p.Ser359Thr) c.1064G>C (p.Ser355Thr) c.461G>C (p.Ser154Thr) | gnomAD v4 |
19 | g.18069692C>T | CA404779070 | IL12RB1 | c.1043G>A (p.Ser348Asn) c.1163G>A (p.Ser388Asn) c.1196G>A (p.Ser399Asn) c.1184G>A (p.Ser395Asn) c.1175G>A (p.Ser392Asn) c.1076G>A (p.Ser359Asn) c.1064G>A (p.Ser355Asn) c.461G>A (p.Ser154Asn) | |
19 | g.18069693T>A | CA404779072 | IL12RB1 | c.1042A>T (p.Ser348Cys) c.1162A>T (p.Ser388Cys) c.1195A>T (p.Ser399Cys) c.1183A>T (p.Ser395Cys) c.1174A>T (p.Ser392Cys) c.1075A>T (p.Ser359Cys) c.1063A>T (p.Ser355Cys) c.460A>T (p.Ser154Cys) | dbSNP |
19 | g.18069693T>C | CA404779073 | IL12RB1 | c.1042A>G (p.Ser348Gly) c.1162A>G (p.Ser388Gly) c.1195A>G (p.Ser399Gly) c.1183A>G (p.Ser395Gly) c.1174A>G (p.Ser392Gly) c.1075A>G (p.Ser359Gly) c.1063A>G (p.Ser355Gly) c.460A>G (p.Ser154Gly) | |
19 | g.18069693T>G | CA404779074 | IL12RB1 | c.1042A>C (p.Ser348Arg) c.1162A>C (p.Ser388Arg) c.1195A>C (p.Ser399Arg) c.1183A>C (p.Ser395Arg) c.1174A>C (p.Ser392Arg) c.1075A>C (p.Ser359Arg) c.1063A>C (p.Ser355Arg) c.460A>C (p.Ser154Arg) | |
19 | g.18069693T= | CA2326169898 | IL12RB1 | c.1042A= (p.Ser348=) c.1162A= (p.Ser388=) c.1195A= (p.Ser399=) c.1183A= (p.Ser395=) c.1174A= (p.Ser392=) c.1075A= (p.Ser359=) c.1063A= (p.Ser355=) c.460A= (p.Ser154=) | |
19 | g.18069694G>A | CA506030338 | IL12RB1 | c.1041C>T (p.Ile347=) c.1161C>T (p.Ile387=) c.1194C>T (p.Ile398=) c.1182C>T (p.Ile394=) c.1173C>T (p.Ile391=) c.1074C>T (p.Ile358=) c.1062C>T (p.Ile354=) c.459C>T (p.Ile153=) | |
19 | g.18069694G>C | CA9304977 | IL12RB1 | c.1041C>G (p.Ile347Met) c.1161C>G (p.Ile387Met) c.1194C>G (p.Ile398Met) c.1182C>G (p.Ile394Met) c.1173C>G (p.Ile391Met) c.1074C>G (p.Ile358Met) c.1062C>G (p.Ile354Met) c.459C>G (p.Ile153Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18069694G= | CA2326169899 | IL12RB1 | c.1041C= (p.Ile347=) c.1161C= (p.Ile387=) c.1194C= (p.Ile398=) c.1182C= (p.Ile394=) c.1173C= (p.Ile391=) c.1074C= (p.Ile358=) c.1062C= (p.Ile354=) c.459C= (p.Ile153=) | |
19 | g.18069694G>T | CA506030339 | IL12RB1 | c.1041C>A (p.Ile347=) c.1161C>A (p.Ile387=) c.1194C>A (p.Ile398=) c.1182C>A (p.Ile394=) c.1173C>A (p.Ile391=) c.1074C>A (p.Ile358=) c.1062C>A (p.Ile354=) c.459C>A (p.Ile153=) | gnomAD v4 |
19 | g.18069695A>C | CA404779078 | IL12RB1 | c.1040T>G (p.Ile347Ser) c.1160T>G (p.Ile387Ser) c.1193T>G (p.Ile398Ser) c.1181T>G (p.Ile394Ser) c.1172T>G (p.Ile391Ser) c.1073T>G (p.Ile358Ser) c.1061T>G (p.Ile354Ser) c.458T>G (p.Ile153Ser) | gnomAD v4 |
19 | g.18069695A>G | CA404779080 | IL12RB1 | c.1040T>C (p.Ile347Thr) c.1160T>C (p.Ile387Thr) c.1193T>C (p.Ile398Thr) c.1181T>C (p.Ile394Thr) c.1172T>C (p.Ile391Thr) c.1073T>C (p.Ile358Thr) c.1061T>C (p.Ile354Thr) c.458T>C (p.Ile153Thr) | |
19 | g.18069695A>T | CA404779082 | IL12RB1 | c.1040T>A (p.Ile347Asn) c.1160T>A (p.Ile387Asn) c.1193T>A (p.Ile398Asn) c.1181T>A (p.Ile394Asn) c.1172T>A (p.Ile391Asn) c.1073T>A (p.Ile358Asn) c.1061T>A (p.Ile354Asn) c.458T>A (p.Ile153Asn) | |
19 | g.18069696T>A | CA404779084 | IL12RB1 | c.1039A>T (p.Ile347Phe) c.1159A>T (p.Ile387Phe) c.1192A>T (p.Ile398Phe) c.1180A>T (p.Ile394Phe) c.1171A>T (p.Ile391Phe) c.1072A>T (p.Ile358Phe) c.1060A>T (p.Ile354Phe) c.457A>T (p.Ile153Phe) | |
19 | g.18069696T>C | CA404779085 | IL12RB1 | c.1039A>G (p.Ile347Val) c.1159A>G (p.Ile387Val) c.1192A>G (p.Ile398Val) c.1180A>G (p.Ile394Val) c.1171A>G (p.Ile391Val) c.1072A>G (p.Ile358Val) c.1060A>G (p.Ile354Val) c.457A>G (p.Ile153Val) | ClinVar dbSNP |
19 | g.18069696T>G | CA404779086 | IL12RB1 | c.1039A>C (p.Ile347Leu) c.1159A>C (p.Ile387Leu) c.1192A>C (p.Ile398Leu) c.1180A>C (p.Ile394Leu) c.1171A>C (p.Ile391Leu) c.1072A>C (p.Ile358Leu) c.1060A>C (p.Ile354Leu) c.457A>C (p.Ile153Leu) | |
19 | g.18069696T= | CA2326169900 | IL12RB1 | c.1039A= (p.Ile347=) c.1159A= (p.Ile387=) c.1192A= (p.Ile398=) c.1180A= (p.Ile394=) c.1171A= (p.Ile391=) c.1072A= (p.Ile358=) c.1060A= (p.Ile354=) c.457A= (p.Ile153=) | |
19 | g.18069697A= | CA2326169901 | IL12RB1 | c.1038T= (p.Asn346=) c.1158T= (p.Asn386=) c.1191T= (p.Asn397=) c.1179T= (p.Asn393=) c.1170T= (p.Asn390=) c.1071T= (p.Asn357=) c.1059T= (p.Asn353=) c.456T= (p.Asn152=) | |
19 | g.18069697A>C | CA404779088 | IL12RB1 | c.1038T>G (p.Asn346Lys) c.1158T>G (p.Asn386Lys) c.1191T>G (p.Asn397Lys) c.1179T>G (p.Asn393Lys) c.1170T>G (p.Asn390Lys) c.1071T>G (p.Asn357Lys) c.1059T>G (p.Asn353Lys) c.456T>G (p.Asn152Lys) | |
19 | g.18069697A>G | CA506030343 | IL12RB1 | c.1038T>C (p.Asn346=) c.1158T>C (p.Asn386=) c.1191T>C (p.Asn397=) c.1179T>C (p.Asn393=) c.1170T>C (p.Asn390=) c.1071T>C (p.Asn357=) c.1059T>C (p.Asn353=) c.456T>C (p.Asn152=) | |
19 | g.18069697A>T | CA9304978 | IL12RB1 | c.1038T>A (p.Asn346Lys) c.1158T>A (p.Asn386Lys) c.1191T>A (p.Asn397Lys) c.1179T>A (p.Asn393Lys) c.1170T>A (p.Asn390Lys) c.1071T>A (p.Asn357Lys) c.1059T>A (p.Asn353Lys) c.456T>A (p.Asn152Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18069698T>A | CA404779091 | IL12RB1 | c.1037A>T (p.Asn346Ile) c.1157A>T (p.Asn386Ile) c.1190A>T (p.Asn397Ile) c.1178A>T (p.Asn393Ile) c.1169A>T (p.Asn390Ile) c.1070A>T (p.Asn357Ile) c.1058A>T (p.Asn353Ile) c.455A>T (p.Asn152Ile) | |
19 | g.18069698T>C | CA404779094 | IL12RB1 | c.1037A>G (p.Asn346Ser) c.1157A>G (p.Asn386Ser) c.1190A>G (p.Asn397Ser) c.1178A>G (p.Asn393Ser) c.1169A>G (p.Asn390Ser) c.1070A>G (p.Asn357Ser) c.1058A>G (p.Asn353Ser) c.455A>G (p.Asn152Ser) | |
19 | g.18069698T>G | CA404779095 | IL12RB1 | c.1037A>C (p.Asn346Thr) c.1157A>C (p.Asn386Thr) c.1190A>C (p.Asn397Thr) c.1178A>C (p.Asn393Thr) c.1169A>C (p.Asn390Thr) c.1070A>C (p.Asn357Thr) c.1058A>C (p.Asn353Thr) c.455A>C (p.Asn152Thr) | |
19 | g.18069699T>A | CA404779098 | IL12RB1 | c.1036A>T (p.Asn346Tyr) c.1156A>T (p.Asn386Tyr) c.1189A>T (p.Asn397Tyr) c.1177A>T (p.Asn393Tyr) c.1168A>T (p.Asn390Tyr) c.1069A>T (p.Asn357Tyr) c.1057A>T (p.Asn353Tyr) c.454A>T (p.Asn152Tyr) | |
19 | g.18069699T>C | CA404779100 | IL12RB1 | c.1036A>G (p.Asn346Asp) c.1156A>G (p.Asn386Asp) c.1189A>G (p.Asn397Asp) c.1177A>G (p.Asn393Asp) c.1168A>G (p.Asn390Asp) c.1069A>G (p.Asn357Asp) c.1057A>G (p.Asn353Asp) c.454A>G (p.Asn152Asp) | dbSNP gnomAD v4 |
19 | g.18069699T>G | CA9304979 | IL12RB1 | c.1036A>C (p.Asn346His) c.1156A>C (p.Asn386His) c.1189A>C (p.Asn397His) c.1177A>C (p.Asn393His) c.1168A>C (p.Asn390His) c.1069A>C (p.Asn357His) c.1057A>C (p.Asn353His) c.454A>C (p.Asn152His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18069699T= | CA2326169902 | IL12RB1 | c.1036A= (p.Asn346=) c.1156A= (p.Asn386=) c.1189A= (p.Asn397=) c.1177A= (p.Asn393=) c.1168A= (p.Asn390=) c.1069A= (p.Asn357=) c.1057A= (p.Asn353=) c.454A= (p.Asn152=) | |
19 | g.18069700C>A | CA506030349 | IL12RB1 | c.1035G>T (p.Leu345=) c.1155G>T (p.Leu385=) c.1188G>T (p.Leu396=) c.1176G>T (p.Leu392=) c.1167G>T (p.Leu389=) c.1068G>T (p.Leu356=) c.1056G>T (p.Leu352=) c.453G>T (p.Leu151=) | |
19 | g.18069700C>G | CA506030348 | IL12RB1 | c.1035G>C (p.Leu345=) c.1155G>C (p.Leu385=) c.1188G>C (p.Leu396=) c.1176G>C (p.Leu392=) c.1167G>C (p.Leu389=) c.1068G>C (p.Leu356=) c.1056G>C (p.Leu352=) c.453G>C (p.Leu151=) | |
19 | g.18069700C>T | CA506030346 | IL12RB1 | c.1035G>A (p.Leu345=) c.1155G>A (p.Leu385=) c.1188G>A (p.Leu396=) c.1176G>A (p.Leu392=) c.1167G>A (p.Leu389=) c.1068G>A (p.Leu356=) c.1056G>A (p.Leu352=) c.453G>A (p.Leu151=) | |
19 | g.18069701A= | CA2326169903 | IL12RB1 | c.1034T= (p.Leu345=) c.1154T= (p.Leu385=) c.1187T= (p.Leu396=) c.1175T= (p.Leu392=) c.1166T= (p.Leu389=) c.1067T= (p.Leu356=) c.1055T= (p.Leu352=) c.452T= (p.Leu151=) | |
19 | g.18069701A>C | CA404779105 | IL12RB1 | c.1034T>G (p.Leu345Arg) c.1154T>G (p.Leu385Arg) c.1187T>G (p.Leu396Arg) c.1175T>G (p.Leu392Arg) c.1166T>G (p.Leu389Arg) c.1067T>G (p.Leu356Arg) c.1055T>G (p.Leu352Arg) c.452T>G (p.Leu151Arg) | gnomAD v4 |
19 | g.18069701A>G | CA306162900 | IL12RB1 | c.1034T>C (p.Leu345Pro) c.1154T>C (p.Leu385Pro) c.1187T>C (p.Leu396Pro) c.1175T>C (p.Leu392Pro) c.1166T>C (p.Leu389Pro) c.1067T>C (p.Leu356Pro) c.1055T>C (p.Leu352Pro) c.452T>C (p.Leu151Pro) | dbSNP gnomAD v2 |
19 | g.18069701A>T | CA404779104 | IL12RB1 | c.1034T>A (p.Leu345Gln) c.1154T>A (p.Leu385Gln) c.1187T>A (p.Leu396Gln) c.1175T>A (p.Leu392Gln) c.1166T>A (p.Leu389Gln) c.1067T>A (p.Leu356Gln) c.1055T>A (p.Leu352Gln) c.452T>A (p.Leu151Gln) | |
19 | g.18069702G>A | CA506030351 | IL12RB1 | c.1033C>T (p.Leu345=) c.1153C>T (p.Leu385=) c.1186C>T (p.Leu396=) c.1174C>T (p.Leu392=) c.1165C>T (p.Leu389=) c.1066C>T (p.Leu356=) c.1054C>T (p.Leu352=) c.451C>T (p.Leu151=) | dbSNP |
19 | g.18069702G>C | CA404779107 | IL12RB1 | c.1033C>G (p.Leu345Val) c.1153C>G (p.Leu385Val) c.1186C>G (p.Leu396Val) c.1174C>G (p.Leu392Val) c.1165C>G (p.Leu389Val) c.1066C>G (p.Leu356Val) c.1054C>G (p.Leu352Val) c.451C>G (p.Leu151Val) | |
19 | g.18069702G= | CA2326169904 | IL12RB1 | c.1033C= (p.Leu345=) c.1153C= (p.Leu385=) c.1186C= (p.Leu396=) c.1174C= (p.Leu392=) c.1165C= (p.Leu389=) c.1066C= (p.Leu356=) c.1054C= (p.Leu352=) c.451C= (p.Leu151=) | |
19 | g.18069702G>T | CA404779109 | IL12RB1 | c.1033C>A (p.Leu345Met) c.1153C>A (p.Leu385Met) c.1186C>A (p.Leu396Met) c.1174C>A (p.Leu392Met) c.1165C>A (p.Leu389Met) c.1066C>A (p.Leu356Met) c.1054C>A (p.Leu352Met) c.451C>A (p.Leu151Met) | |
19 | g.18069703A>C | CA506030353 | IL12RB1 | c.1032T>G (p.Ala344=) c.1152T>G (p.Ala384=) c.1185T>G (p.Ala395=) c.1173T>G (p.Ala391=) c.1164T>G (p.Ala388=) c.1065T>G (p.Ala355=) c.1053T>G (p.Ala351=) c.450T>G (p.Ala150=) | |
19 | g.18069703A>G | CA506030355 | IL12RB1 | c.1032T>C (p.Ala344=) c.1152T>C (p.Ala384=) c.1185T>C (p.Ala395=) c.1173T>C (p.Ala391=) c.1164T>C (p.Ala388=) c.1065T>C (p.Ala355=) c.1053T>C (p.Ala351=) c.450T>C (p.Ala150=) | |
19 | g.18069703A>T | CA506030354 | IL12RB1 | c.1032T>A (p.Ala344=) c.1152T>A (p.Ala384=) c.1185T>A (p.Ala395=) c.1173T>A (p.Ala391=) c.1164T>A (p.Ala388=) c.1065T>A (p.Ala355=) c.1053T>A (p.Ala351=) c.450T>A (p.Ala150=) | |
19 | g.18069704G>A | CA404779112 | IL12RB1 | c.1031C>T (p.Ala344Val) c.1151C>T (p.Ala384Val) c.1184C>T (p.Ala395Val) c.1172C>T (p.Ala391Val) c.1163C>T (p.Ala388Val) c.1064C>T (p.Ala355Val) c.1052C>T (p.Ala351Val) c.449C>T (p.Ala150Val) | |
19 | g.18069704G>C | CA404779114 | IL12RB1 | c.1031C>G (p.Ala344Gly) c.1151C>G (p.Ala384Gly) c.1184C>G (p.Ala395Gly) c.1172C>G (p.Ala391Gly) c.1163C>G (p.Ala388Gly) c.1064C>G (p.Ala355Gly) c.1052C>G (p.Ala351Gly) c.449C>G (p.Ala150Gly) | |
19 | g.18069704G>T | CA404779115 | IL12RB1 | c.1031C>A (p.Ala344Asp) c.1151C>A (p.Ala384Asp) c.1184C>A (p.Ala395Asp) c.1172C>A (p.Ala391Asp) c.1163C>A (p.Ala388Asp) c.1064C>A (p.Ala355Asp) c.1052C>A (p.Ala351Asp) c.449C>A (p.Ala150Asp) | gnomAD v4 |
19 | g.18069705C>A | CA404779118 | IL12RB1 | c.1030G>T (p.Ala344Ser) c.1150G>T (p.Ala384Ser) c.1183G>T (p.Ala395Ser) c.1171G>T (p.Ala391Ser) c.1162G>T (p.Ala388Ser) c.1063G>T (p.Ala355Ser) c.1051G>T (p.Ala351Ser) c.448G>T (p.Ala150Ser) | gnomAD v4 |
19 | g.18069705C>G | CA404779122 | IL12RB1 | c.1030G>C (p.Ala344Pro) c.1150G>C (p.Ala384Pro) c.1183G>C (p.Ala395Pro) c.1171G>C (p.Ala391Pro) c.1162G>C (p.Ala388Pro) c.1063G>C (p.Ala355Pro) c.1051G>C (p.Ala351Pro) c.448G>C (p.Ala150Pro) | |
19 | g.18069705C>T | CA404779120 | IL12RB1 | c.1030G>A (p.Ala344Thr) c.1150G>A (p.Ala384Thr) c.1183G>A (p.Ala395Thr) c.1171G>A (p.Ala391Thr) c.1162G>A (p.Ala388Thr) c.1063G>A (p.Ala355Thr) c.1051G>A (p.Ala351Thr) c.448G>A (p.Ala150Thr) | |
19 | g.18069706del | CA2740097985 | IL12RB1 | c.1030del (p.Ala344LeufsTer2) c.1150del (p.Ala384LeufsTer2) c.1183del (p.Ala395LeufsTer2) c.1171del (p.Ala391LeufsTer2) c.1162del (p.Ala388LeufsTer2) c.1063del (p.Ala355LeufsTer2) c.1051del (p.Ala351LeufsTer2) c.448del (p.Ala150LeufsTer2) | ClinVar |