Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18069641A=CA2326169873IL12RB1c.1094T= (p.Met365=)
c.1214T= (p.Met405=)
c.1247T= (p.Met416=)
c.1235T= (p.Met412=)
c.1226T= (p.Met409=)
c.1127T= (p.Met376=)
c.1115T= (p.Met372=)
c.512T= (p.Met171=)
19g.18069641A>CCA404778838IL12RB1c.1094T>G (p.Met365Arg)
c.1214T>G (p.Met405Arg)
c.1247T>G (p.Met416Arg)
c.1235T>G (p.Met412Arg)
c.1226T>G (p.Met409Arg)
c.1127T>G (p.Met376Arg)
c.1115T>G (p.Met372Arg)
c.512T>G (p.Met171Arg)
19g.18069641A>GCA9304962IL12RB1c.1094T>C (p.Met365Thr)
c.1214T>C (p.Met405Thr)
c.1247T>C (p.Met416Thr)
c.1235T>C (p.Met412Thr)
c.1226T>C (p.Met409Thr)
c.1127T>C (p.Met376Thr)
c.1115T>C (p.Met372Thr)
c.512T>C (p.Met171Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069641A>TCA404778840IL12RB1c.1094T>A (p.Met365Lys)
c.1214T>A (p.Met405Lys)
c.1247T>A (p.Met416Lys)
c.1235T>A (p.Met412Lys)
c.1226T>A (p.Met409Lys)
c.1127T>A (p.Met376Lys)
c.1115T>A (p.Met372Lys)
c.512T>A (p.Met171Lys)
19g.18069642T>ACA404778841IL12RB1c.1093A>T (p.Met365Leu)
c.1213A>T (p.Met405Leu)
c.1246A>T (p.Met416Leu)
c.1234A>T (p.Met412Leu)
c.1225A>T (p.Met409Leu)
c.1126A>T (p.Met376Leu)
c.1114A>T (p.Met372Leu)
c.511A>T (p.Met171Leu)
19g.18069642T>CCA9304963IL12RB1c.1093A>G (p.Met365Val)
c.1213A>G (p.Met405Val)
c.1246A>G (p.Met416Val)
c.1234A>G (p.Met412Val)
c.1225A>G (p.Met409Val)
c.1126A>G (p.Met376Val)
c.1114A>G (p.Met372Val)
c.511A>G (p.Met171Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18069642T>GCA404778843IL12RB1c.1093A>C (p.Met365Leu)
c.1213A>C (p.Met405Leu)
c.1246A>C (p.Met416Leu)
c.1234A>C (p.Met412Leu)
c.1225A>C (p.Met409Leu)
c.1126A>C (p.Met376Leu)
c.1114A>C (p.Met372Leu)
c.511A>C (p.Met171Leu)
19g.18069642T=CA2326169874IL12RB1c.1093A= (p.Met365=)
c.1213A= (p.Met405=)
c.1246A= (p.Met416=)
c.1234A= (p.Met412=)
c.1225A= (p.Met409=)
c.1126A= (p.Met376=)
c.1114A= (p.Met372=)
c.511A= (p.Met171=)
19g.18069643G>ACA506030223IL12RB1c.1092C>T (p.Ser364=)
c.1212C>T (p.Ser404=)
c.1245C>T (p.Ser415=)
c.1233C>T (p.Ser411=)
c.1224C>T (p.Ser408=)
c.1125C>T (p.Ser375=)
c.1113C>T (p.Ser371=)
c.510C>T (p.Ser170=)
 dbSNP gnomAD v2 gnomAD v4
19g.18069643G>CCA404778847IL12RB1c.1092C>G (p.Ser364Arg)
c.1212C>G (p.Ser404Arg)
c.1245C>G (p.Ser415Arg)
c.1233C>G (p.Ser411Arg)
c.1224C>G (p.Ser408Arg)
c.1125C>G (p.Ser375Arg)
c.1113C>G (p.Ser371Arg)
c.510C>G (p.Ser170Arg)
19g.18069643G=CA2326169875IL12RB1c.1092C= (p.Ser364=)
c.1212C= (p.Ser404=)
c.1245C= (p.Ser415=)
c.1233C= (p.Ser411=)
c.1224C= (p.Ser408=)
c.1125C= (p.Ser375=)
c.1113C= (p.Ser371=)
c.510C= (p.Ser170=)
19g.18069643G>TCA404778845IL12RB1c.1092C>A (p.Ser364Arg)
c.1212C>A (p.Ser404Arg)
c.1245C>A (p.Ser415Arg)
c.1233C>A (p.Ser411Arg)
c.1224C>A (p.Ser408Arg)
c.1125C>A (p.Ser375Arg)
c.1113C>A (p.Ser371Arg)
c.510C>A (p.Ser170Arg)
 gnomAD v4
19g.18069644C>ACA404778850IL12RB1c.1091G>T (p.Ser364Ile)
c.1211G>T (p.Ser404Ile)
c.1244G>T (p.Ser415Ile)
c.1232G>T (p.Ser411Ile)
c.1223G>T (p.Ser408Ile)
c.1124G>T (p.Ser375Ile)
c.1112G>T (p.Ser371Ile)
c.509G>T (p.Ser170Ile)
19g.18069644C>GCA404778854IL12RB1c.1091G>C (p.Ser364Thr)
c.1211G>C (p.Ser404Thr)
c.1244G>C (p.Ser415Thr)
c.1232G>C (p.Ser411Thr)
c.1223G>C (p.Ser408Thr)
c.1124G>C (p.Ser375Thr)
c.1112G>C (p.Ser371Thr)
c.509G>C (p.Ser170Thr)
19g.18069644C>TCA404778852IL12RB1c.1091G>A (p.Ser364Asn)
c.1211G>A (p.Ser404Asn)
c.1244G>A (p.Ser415Asn)
c.1232G>A (p.Ser411Asn)
c.1223G>A (p.Ser408Asn)
c.1124G>A (p.Ser375Asn)
c.1112G>A (p.Ser371Asn)
c.509G>A (p.Ser170Asn)
 gnomAD v4
19g.18069645T>ACA404778857IL12RB1c.1090A>T (p.Ser364Cys)
c.1210A>T (p.Ser404Cys)
c.1243A>T (p.Ser415Cys)
c.1231A>T (p.Ser411Cys)
c.1222A>T (p.Ser408Cys)
c.1123A>T (p.Ser375Cys)
c.1111A>T (p.Ser371Cys)
c.508A>T (p.Ser170Cys)
19g.18069645T>CCA404778858IL12RB1c.1090A>G (p.Ser364Gly)
c.1210A>G (p.Ser404Gly)
c.1243A>G (p.Ser415Gly)
c.1231A>G (p.Ser411Gly)
c.1222A>G (p.Ser408Gly)
c.1123A>G (p.Ser375Gly)
c.1111A>G (p.Ser371Gly)
c.508A>G (p.Ser170Gly)
19g.18069645T>GCA404778860IL12RB1c.1090A>C (p.Ser364Arg)
c.1210A>C (p.Ser404Arg)
c.1243A>C (p.Ser415Arg)
c.1231A>C (p.Ser411Arg)
c.1222A>C (p.Ser408Arg)
c.1123A>C (p.Ser375Arg)
c.1111A>C (p.Ser371Arg)
c.508A>C (p.Ser170Arg)
19g.18069646C>ACA404778863IL12RB1c.1089G>T (p.Gln363His)
c.1209G>T (p.Gln403His)
c.1242G>T (p.Gln414His)
c.1230G>T (p.Gln410His)
c.1221G>T (p.Gln407His)
c.1122G>T (p.Gln374His)
c.1110G>T (p.Gln370His)
c.507G>T (p.Gln169His)
19g.18069646C>GCA404778864IL12RB1c.1089G>C (p.Gln363His)
c.1209G>C (p.Gln403His)
c.1242G>C (p.Gln414His)
c.1230G>C (p.Gln410His)
c.1221G>C (p.Gln407His)
c.1122G>C (p.Gln374His)
c.1110G>C (p.Gln370His)
c.507G>C (p.Gln169His)
19g.18069646C>TCA506030233IL12RB1c.1089G>A (p.Gln363=)
c.1209G>A (p.Gln403=)
c.1242G>A (p.Gln414=)
c.1230G>A (p.Gln410=)
c.1221G>A (p.Gln407=)
c.1122G>A (p.Gln374=)
c.1110G>A (p.Gln370=)
c.507G>A (p.Gln169=)
 gnomAD v4
19g.18069647T>ACA404778866IL12RB1c.1088A>T (p.Gln363Leu)
c.1208A>T (p.Gln403Leu)
c.1241A>T (p.Gln414Leu)
c.1229A>T (p.Gln410Leu)
c.1220A>T (p.Gln407Leu)
c.1121A>T (p.Gln374Leu)
c.1109A>T (p.Gln370Leu)
c.506A>T (p.Gln169Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.18069647T>CCA306162859IL12RB1c.1088A>G (p.Gln363Arg)
c.1208A>G (p.Gln403Arg)
c.1241A>G (p.Gln414Arg)
c.1229A>G (p.Gln410Arg)
c.1220A>G (p.Gln407Arg)
c.1121A>G (p.Gln374Arg)
c.1109A>G (p.Gln370Arg)
c.506A>G (p.Gln169Arg)
 dbSNP gnomAD v4
19g.18069647T>GCA404778869IL12RB1c.1088A>C (p.Gln363Pro)
c.1208A>C (p.Gln403Pro)
c.1241A>C (p.Gln414Pro)
c.1229A>C (p.Gln410Pro)
c.1220A>C (p.Gln407Pro)
c.1121A>C (p.Gln374Pro)
c.1109A>C (p.Gln370Pro)
c.506A>C (p.Gln169Pro)
19g.18069647T=CA2326169876IL12RB1c.1088A= (p.Gln363=)
c.1208A= (p.Gln403=)
c.1241A= (p.Gln414=)
c.1229A= (p.Gln410=)
c.1220A= (p.Gln407=)
c.1121A= (p.Gln374=)
c.1109A= (p.Gln370=)
c.506A= (p.Gln169=)
19g.18069648G>ACA404778873IL12RB1c.1087C>T (p.Gln363Ter)
c.1207C>T (p.Gln403Ter)
c.1240C>T (p.Gln414Ter)
c.1228C>T (p.Gln410Ter)
c.1219C>T (p.Gln407Ter)
c.1120C>T (p.Gln374Ter)
c.1108C>T (p.Gln370Ter)
c.505C>T (p.Gln169Ter)
19g.18069648G>CCA404778874IL12RB1c.1087C>G (p.Gln363Glu)
c.1207C>G (p.Gln403Glu)
c.1240C>G (p.Gln414Glu)
c.1228C>G (p.Gln410Glu)
c.1219C>G (p.Gln407Glu)
c.1120C>G (p.Gln374Glu)
c.1108C>G (p.Gln370Glu)
c.505C>G (p.Gln169Glu)
19g.18069648G>TCA404778875IL12RB1c.1087C>A (p.Gln363Lys)
c.1207C>A (p.Gln403Lys)
c.1240C>A (p.Gln414Lys)
c.1228C>A (p.Gln410Lys)
c.1219C>A (p.Gln407Lys)
c.1120C>A (p.Gln374Lys)
c.1108C>A (p.Gln370Lys)
c.505C>A (p.Gln169Lys)
19g.18069649A>CCA506030238IL12RB1c.1086T>G (p.Ala362=)
c.1206T>G (p.Ala402=)
c.1239T>G (p.Ala413=)
c.1227T>G (p.Ala409=)
c.1218T>G (p.Ala406=)
c.1119T>G (p.Ala373=)
c.1107T>G (p.Ala369=)
c.504T>G (p.Ala168=)
19g.18069649A>GCA506030241IL12RB1c.1086T>C (p.Ala362=)
c.1206T>C (p.Ala402=)
c.1239T>C (p.Ala413=)
c.1227T>C (p.Ala409=)
c.1218T>C (p.Ala406=)
c.1119T>C (p.Ala373=)
c.1107T>C (p.Ala369=)
c.504T>C (p.Ala168=)
19g.18069649A>TCA506030242IL12RB1c.1086T>A (p.Ala362=)
c.1206T>A (p.Ala402=)
c.1239T>A (p.Ala413=)
c.1227T>A (p.Ala409=)
c.1218T>A (p.Ala406=)
c.1119T>A (p.Ala373=)
c.1107T>A (p.Ala369=)
c.504T>A (p.Ala168=)
19g.18069650G>ACA404778882IL12RB1c.1085C>T (p.Ala362Val)
c.1205C>T (p.Ala402Val)
c.1238C>T (p.Ala413Val)
c.1226C>T (p.Ala409Val)
c.1217C>T (p.Ala406Val)
c.1118C>T (p.Ala373Val)
c.1106C>T (p.Ala369Val)
c.503C>T (p.Ala168Val)
 ClinVar dbSNP
19g.18069650G>CCA404778881IL12RB1c.1085C>G (p.Ala362Gly)
c.1205C>G (p.Ala402Gly)
c.1238C>G (p.Ala413Gly)
c.1226C>G (p.Ala409Gly)
c.1217C>G (p.Ala406Gly)
c.1118C>G (p.Ala373Gly)
c.1106C>G (p.Ala369Gly)
c.503C>G (p.Ala168Gly)
19g.18069650G>TCA404778878IL12RB1c.1085C>A (p.Ala362Asp)
c.1205C>A (p.Ala402Asp)
c.1238C>A (p.Ala413Asp)
c.1226C>A (p.Ala409Asp)
c.1217C>A (p.Ala406Asp)
c.1118C>A (p.Ala373Asp)
c.1106C>A (p.Ala369Asp)
c.503C>A (p.Ala168Asp)
 gnomAD v4
19g.18069651C>ACA404778885IL12RB1c.1084G>T (p.Ala362Ser)
c.1204G>T (p.Ala402Ser)
c.1237G>T (p.Ala413Ser)
c.1225G>T (p.Ala409Ser)
c.1216G>T (p.Ala406Ser)
c.1117G>T (p.Ala373Ser)
c.1105G>T (p.Ala369Ser)
c.502G>T (p.Ala168Ser)
19g.18069651C>GCA404778887IL12RB1c.1084G>C (p.Ala362Pro)
c.1204G>C (p.Ala402Pro)
c.1237G>C (p.Ala413Pro)
c.1225G>C (p.Ala409Pro)
c.1216G>C (p.Ala406Pro)
c.1117G>C (p.Ala373Pro)
c.1105G>C (p.Ala369Pro)
c.502G>C (p.Ala168Pro)
19g.18069651C>TCA404778888IL12RB1c.1084G>A (p.Ala362Thr)
c.1204G>A (p.Ala402Thr)
c.1237G>A (p.Ala413Thr)
c.1225G>A (p.Ala409Thr)
c.1216G>A (p.Ala406Thr)
c.1117G>A (p.Ala373Thr)
c.1105G>A (p.Ala369Thr)
c.502G>A (p.Ala168Thr)
19g.18069652C>ACA506030245IL12RB1c.1083G>T (p.Arg361=)
c.1203G>T (p.Arg401=)
c.1236G>T (p.Arg412=)
c.1224G>T (p.Arg408=)
c.1215G>T (p.Arg405=)
c.1116G>T (p.Arg372=)
c.1104G>T (p.Arg368=)
c.501G>T (p.Arg167=)
19g.18069652C>GCA506030248IL12RB1c.1083G>C (p.Arg361=)
c.1203G>C (p.Arg401=)
c.1236G>C (p.Arg412=)
c.1224G>C (p.Arg408=)
c.1215G>C (p.Arg405=)
c.1116G>C (p.Arg372=)
c.1104G>C (p.Arg368=)
c.501G>C (p.Arg167=)
19g.18069652C>TCA506030250IL12RB1c.1083G>A (p.Arg361=)
c.1203G>A (p.Arg401=)
c.1236G>A (p.Arg412=)
c.1224G>A (p.Arg408=)
c.1215G>A (p.Arg405=)
c.1116G>A (p.Arg372=)
c.1104G>A (p.Arg368=)
c.501G>A (p.Arg167=)
 gnomAD v4
19g.18069653C>ACA404778891IL12RB1c.1082G>T (p.Arg361Leu)
c.1202G>T (p.Arg401Leu)
c.1235G>T (p.Arg412Leu)
c.1223G>T (p.Arg408Leu)
c.1214G>T (p.Arg405Leu)
c.1115G>T (p.Arg372Leu)
c.1103G>T (p.Arg368Leu)
c.500G>T (p.Arg167Leu)
19g.18069653C=CA2326169877IL12RB1c.1082G= (p.Arg361=)
c.1202G= (p.Arg401=)
c.1235G= (p.Arg412=)
c.1223G= (p.Arg408=)
c.1214G= (p.Arg405=)
c.1115G= (p.Arg372=)
c.1103G= (p.Arg368=)
c.500G= (p.Arg167=)
19g.18069653C>GCA404778893IL12RB1c.1082G>C (p.Arg361Pro)
c.1202G>C (p.Arg401Pro)
c.1235G>C (p.Arg412Pro)
c.1223G>C (p.Arg408Pro)
c.1214G>C (p.Arg405Pro)
c.1115G>C (p.Arg372Pro)
c.1103G>C (p.Arg368Pro)
c.500G>C (p.Arg167Pro)
19g.18069653C>TCA9304964IL12RB1c.1082G>A (p.Arg361Gln)
c.1202G>A (p.Arg401Gln)
c.1235G>A (p.Arg412Gln)
c.1223G>A (p.Arg408Gln)
c.1214G>A (p.Arg405Gln)
c.1115G>A (p.Arg372Gln)
c.1103G>A (p.Arg368Gln)
c.500G>A (p.Arg167Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069654G>ACA9304965IL12RB1c.1081C>T (p.Arg361Trp)
c.1201C>T (p.Arg401Trp)
c.1234C>T (p.Arg412Trp)
c.1222C>T (p.Arg408Trp)
c.1213C>T (p.Arg405Trp)
c.1114C>T (p.Arg372Trp)
c.1102C>T (p.Arg368Trp)
c.499C>T (p.Arg167Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18069654G>CCA9304966IL12RB1c.1081C>G (p.Arg361Gly)
c.1201C>G (p.Arg401Gly)
c.1234C>G (p.Arg412Gly)
c.1222C>G (p.Arg408Gly)
c.1213C>G (p.Arg405Gly)
c.1114C>G (p.Arg372Gly)
c.1102C>G (p.Arg368Gly)
c.499C>G (p.Arg167Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069654G=CA2326169878IL12RB1c.1081C= (p.Arg361=)
c.1201C= (p.Arg401=)
c.1234C= (p.Arg412=)
c.1222C= (p.Arg408=)
c.1213C= (p.Arg405=)
c.1114C= (p.Arg372=)
c.1102C= (p.Arg368=)
c.499C= (p.Arg167=)
19g.18069654G>TCA9304967IL12RB1c.1081C>A (p.Arg361=)
c.1201C>A (p.Arg401=)
c.1234C>A (p.Arg412=)
c.1222C>A (p.Arg408=)
c.1213C>A (p.Arg405=)
c.1114C>A (p.Arg372=)
c.1102C>A (p.Arg368=)
c.499C>A (p.Arg167=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18069655G>ACA506030256IL12RB1c.1080C>T (p.Ala360=)
c.1200C>T (p.Ala400=)
c.1233C>T (p.Ala411=)
c.1221C>T (p.Ala407=)
c.1212C>T (p.Ala404=)
c.1113C>T (p.Ala371=)
c.1101C>T (p.Ala367=)
c.498C>T (p.Ala166=)
 dbSNP
19g.18069655G>CCA506030258IL12RB1c.1080C>G (p.Ala360=)
c.1200C>G (p.Ala400=)
c.1233C>G (p.Ala411=)
c.1221C>G (p.Ala407=)
c.1212C>G (p.Ala404=)
c.1113C>G (p.Ala371=)
c.1101C>G (p.Ala367=)
c.498C>G (p.Ala166=)

Number of alleles fetched