| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 19 | g.18069706C>A | CA506030360 | IL12RB1 | c.1029G>T (p.Val343=) c.1149G>T (p.Val383=) c.1182G>T (p.Val394=) c.1170G>T (p.Val390=) c.1161G>T (p.Val387=) c.1062G>T (p.Val354=) c.1050G>T (p.Val350=) c.447G>T (p.Val149=) | gnomAD v4 |
| 19 | g.18069706C= | CA2326169905 | IL12RB1 | c.1029G= (p.Val343=) c.1149G= (p.Val383=) c.1182G= (p.Val394=) c.1170G= (p.Val390=) c.1161G= (p.Val387=) c.1062G= (p.Val354=) c.1050G= (p.Val350=) c.447G= (p.Val149=) | |
| 19 | g.18069706C>G | CA506030361 | IL12RB1 | c.1029G>C (p.Val343=) c.1149G>C (p.Val383=) c.1182G>C (p.Val394=) c.1170G>C (p.Val390=) c.1161G>C (p.Val387=) c.1062G>C (p.Val354=) c.1050G>C (p.Val350=) c.447G>C (p.Val149=) | |
| 19 | g.18069706C>T | CA306162902 | IL12RB1 | c.1029G>A (p.Val343=) c.1149G>A (p.Val383=) c.1182G>A (p.Val394=) c.1170G>A (p.Val390=) c.1161G>A (p.Val387=) c.1062G>A (p.Val354=) c.1050G>A (p.Val350=) c.447G>A (p.Val149=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18069707A= | CA2326169906 | IL12RB1 | c.1028T= (p.Val343=) c.1148T= (p.Val383=) c.1181T= (p.Val394=) c.1169T= (p.Val390=) c.1160T= (p.Val387=) c.1061T= (p.Val354=) c.1049T= (p.Val350=) c.446T= (p.Val149=) | |
| 19 | g.18069707A>C | CA404779124 | IL12RB1 | c.1028T>G (p.Val343Gly) c.1148T>G (p.Val383Gly) c.1181T>G (p.Val394Gly) c.1169T>G (p.Val390Gly) c.1160T>G (p.Val387Gly) c.1061T>G (p.Val354Gly) c.1049T>G (p.Val350Gly) c.446T>G (p.Val149Gly) | |
| 19 | g.18069707A>G | CA306162910 | IL12RB1 | c.1028T>C (p.Val343Ala) c.1148T>C (p.Val383Ala) c.1181T>C (p.Val394Ala) c.1169T>C (p.Val390Ala) c.1160T>C (p.Val387Ala) c.1061T>C (p.Val354Ala) c.1049T>C (p.Val350Ala) c.446T>C (p.Val149Ala) | dbSNP gnomAD v4 |
| 19 | g.18069707A>T | CA404779127 | IL12RB1 | c.1028T>A (p.Val343Glu) c.1148T>A (p.Val383Glu) c.1181T>A (p.Val394Glu) c.1169T>A (p.Val390Glu) c.1160T>A (p.Val387Glu) c.1061T>A (p.Val354Glu) c.1049T>A (p.Val350Glu) c.446T>A (p.Val149Glu) | |
| 19 | g.18069708C>A | CA404779129 | IL12RB1 | c.1027G>T (p.Val343Leu) c.1147G>T (p.Val383Leu) c.1180G>T (p.Val394Leu) c.1168G>T (p.Val390Leu) c.1159G>T (p.Val387Leu) c.1060G>T (p.Val354Leu) c.1048G>T (p.Val350Leu) c.445G>T (p.Val149Leu) | |
| 19 | g.18069708C= | CA2326169907 | IL12RB1 | c.1027G= (p.Val343=) c.1147G= (p.Val383=) c.1180G= (p.Val394=) c.1168G= (p.Val390=) c.1159G= (p.Val387=) c.1060G= (p.Val354=) c.1048G= (p.Val350=) c.445G= (p.Val149=) | |
| 19 | g.18069708C>G | CA404779131 | IL12RB1 | c.1027G>C (p.Val343Leu) c.1147G>C (p.Val383Leu) c.1180G>C (p.Val394Leu) c.1168G>C (p.Val390Leu) c.1159G>C (p.Val387Leu) c.1060G>C (p.Val354Leu) c.1048G>C (p.Val350Leu) c.445G>C (p.Val149Leu) | COSMIC |
| 19 | g.18069708C>T | CA404779133 | IL12RB1 | c.1027G>A (p.Val343Met) c.1147G>A (p.Val383Met) c.1180G>A (p.Val394Met) c.1168G>A (p.Val390Met) c.1159G>A (p.Val387Met) c.1060G>A (p.Val354Met) c.1048G>A (p.Val350Met) c.445G>A (p.Val149Met) | dbSNP gnomAD v4 |
| 19 | g.18069709T>A | CA506030363 | IL12RB1 | c.1026A>T (p.Pro342=) c.1146A>T (p.Pro382=) c.1179A>T (p.Pro393=) c.1167A>T (p.Pro389=) c.1158A>T (p.Pro386=) c.1059A>T (p.Pro353=) c.1047A>T (p.Pro349=) c.444A>T (p.Pro148=) | |
| 19 | g.18069709T>C | CA506030364 | IL12RB1 | c.1026A>G (p.Pro342=) c.1146A>G (p.Pro382=) c.1179A>G (p.Pro393=) c.1167A>G (p.Pro389=) c.1158A>G (p.Pro386=) c.1059A>G (p.Pro353=) c.1047A>G (p.Pro349=) c.444A>G (p.Pro148=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18069709T>G | CA506030365 | IL12RB1 | c.1026A>C (p.Pro342=) c.1146A>C (p.Pro382=) c.1179A>C (p.Pro393=) c.1167A>C (p.Pro389=) c.1158A>C (p.Pro386=) c.1059A>C (p.Pro353=) c.1047A>C (p.Pro349=) c.444A>C (p.Pro148=) | |
| 19 | g.18069709T= | CA2326169908 | IL12RB1 | c.1026A= (p.Pro342=) c.1146A= (p.Pro382=) c.1179A= (p.Pro393=) c.1167A= (p.Pro389=) c.1158A= (p.Pro386=) c.1059A= (p.Pro353=) c.1047A= (p.Pro349=) c.444A= (p.Pro148=) | |
| 19 | g.18069710G>A | CA404779135 | IL12RB1 | c.1025C>T (p.Pro342Leu) c.1145C>T (p.Pro382Leu) c.1178C>T (p.Pro393Leu) c.1166C>T (p.Pro389Leu) c.1157C>T (p.Pro386Leu) c.1058C>T (p.Pro353Leu) c.1046C>T (p.Pro349Leu) c.443C>T (p.Pro148Leu) | COSMIC COSMIC |
| 19 | g.18069710G>C | CA404779137 | IL12RB1 | c.1025C>G (p.Pro342Arg) c.1145C>G (p.Pro382Arg) c.1178C>G (p.Pro393Arg) c.1166C>G (p.Pro389Arg) c.1157C>G (p.Pro386Arg) c.1058C>G (p.Pro353Arg) c.1046C>G (p.Pro349Arg) c.443C>G (p.Pro148Arg) | dbSNP gnomAD v4 |
| 19 | g.18069710G= | CA2326169909 | IL12RB1 | c.1025C= (p.Pro342=) c.1145C= (p.Pro382=) c.1178C= (p.Pro393=) c.1166C= (p.Pro389=) c.1157C= (p.Pro386=) c.1058C= (p.Pro353=) c.1046C= (p.Pro349=) c.443C= (p.Pro148=) | |
| 19 | g.18069710G>T | CA404779139 | IL12RB1 | c.1025C>A (p.Pro342Gln) c.1145C>A (p.Pro382Gln) c.1178C>A (p.Pro393Gln) c.1166C>A (p.Pro389Gln) c.1157C>A (p.Pro386Gln) c.1058C>A (p.Pro353Gln) c.1046C>A (p.Pro349Gln) c.443C>A (p.Pro148Gln) | gnomAD v4 |
| 19 | g.18069711G>A | CA404779142 | IL12RB1 | c.1024C>T (p.Pro342Ser) c.1144C>T (p.Pro382Ser) c.1177C>T (p.Pro393Ser) c.1165C>T (p.Pro389Ser) c.1156C>T (p.Pro386Ser) c.1057C>T (p.Pro353Ser) c.1045C>T (p.Pro349Ser) c.442C>T (p.Pro148Ser) | |
| 19 | g.18069711G>C | CA404779144 | IL12RB1 | c.1024C>G (p.Pro342Ala) c.1144C>G (p.Pro382Ala) c.1177C>G (p.Pro393Ala) c.1165C>G (p.Pro389Ala) c.1156C>G (p.Pro386Ala) c.1057C>G (p.Pro353Ala) c.1045C>G (p.Pro349Ala) c.442C>G (p.Pro148Ala) | |
| 19 | g.18069711G>T | CA404779147 | IL12RB1 | c.1024C>A (p.Pro342Thr) c.1144C>A (p.Pro382Thr) c.1177C>A (p.Pro393Thr) c.1165C>A (p.Pro389Thr) c.1156C>A (p.Pro386Thr) c.1057C>A (p.Pro353Thr) c.1045C>A (p.Pro349Thr) c.442C>A (p.Pro148Thr) | gnomAD v4 |
| 19 | g.18069712T>A | CA404779149 | IL12RB1 | c.1023A>T (p.Glu341Asp) c.1143A>T (p.Glu381Asp) c.1176A>T (p.Glu392Asp) c.1164A>T (p.Glu388Asp) c.1155A>T (p.Glu385Asp) c.1056A>T (p.Glu352Asp) c.1044A>T (p.Glu348Asp) c.441A>T (p.Glu147Asp) | |
| 19 | g.18069712T>C | CA506030367 | IL12RB1 | c.1023A>G (p.Glu341=) c.1143A>G (p.Glu381=) c.1176A>G (p.Glu392=) c.1164A>G (p.Glu388=) c.1155A>G (p.Glu385=) c.1056A>G (p.Glu352=) c.1044A>G (p.Glu348=) c.441A>G (p.Glu147=) | |
| 19 | g.18069712T>G | CA404779151 | IL12RB1 | c.1023A>C (p.Glu341Asp) c.1143A>C (p.Glu381Asp) c.1176A>C (p.Glu392Asp) c.1164A>C (p.Glu388Asp) c.1155A>C (p.Glu385Asp) c.1056A>C (p.Glu352Asp) c.1044A>C (p.Glu348Asp) c.441A>C (p.Glu147Asp) | |
| 19 | g.18069713T>A | CA404779154 | IL12RB1 | c.1022A>T (p.Glu341Val) c.1142A>T (p.Glu381Val) c.1175A>T (p.Glu392Val) c.1163A>T (p.Glu388Val) c.1154A>T (p.Glu385Val) c.1055A>T (p.Glu352Val) c.1043A>T (p.Glu348Val) c.440A>T (p.Glu147Val) | ClinVar dbSNP gnomAD v4 |
| 19 | g.18069713T>C | CA404779157 | IL12RB1 | c.1022A>G (p.Glu341Gly) c.1142A>G (p.Glu381Gly) c.1175A>G (p.Glu392Gly) c.1163A>G (p.Glu388Gly) c.1154A>G (p.Glu385Gly) c.1055A>G (p.Glu352Gly) c.1043A>G (p.Glu348Gly) c.440A>G (p.Glu147Gly) | |
| 19 | g.18069713T>G | CA404779155 | IL12RB1 | c.1022A>C (p.Glu341Ala) c.1142A>C (p.Glu381Ala) c.1175A>C (p.Glu392Ala) c.1163A>C (p.Glu388Ala) c.1154A>C (p.Glu385Ala) c.1055A>C (p.Glu352Ala) c.1043A>C (p.Glu348Ala) c.440A>C (p.Glu147Ala) | |
| 19 | g.18069714C>A | CA404779160 | IL12RB1 | c.1022-1G>T (n.1022-1G>T) c.1142-1G>T (n.1142-1G>T) c.1175-1G>T (n.1175-1G>T) c.1163-1G>T (n.1163-1G>T) c.1154-1G>T (n.1154-1G>T) c.1055-1G>T (n.1055-1G>T) c.1043-1G>T (n.1043-1G>T) c.440-1G>T (n.440-1G>T) | |
| 19 | g.18069714C>G | CA404779162 | IL12RB1 | c.1022-1G>C (n.1022-1G>C) c.1142-1G>C (n.1142-1G>C) c.1175-1G>C (n.1175-1G>C) c.1163-1G>C (n.1163-1G>C) c.1154-1G>C (n.1154-1G>C) c.1055-1G>C (n.1055-1G>C) c.1043-1G>C (n.1043-1G>C) c.440-1G>C (n.440-1G>C) | |
| 19 | g.18069714C>T | CA404779161 | IL12RB1 | c.1022-1G>A (n.1022-1G>A) c.1142-1G>A (n.1142-1G>A) c.1175-1G>A (n.1175-1G>A) c.1163-1G>A (n.1163-1G>A) c.1154-1G>A (n.1154-1G>A) c.1055-1G>A (n.1055-1G>A) c.1043-1G>A (n.1043-1G>A) c.440-1G>A (n.440-1G>A) | ClinVar dbSNP gnomAD v4 |
| 19 | g.18069715T>A | CA404779163 | IL12RB1 | c.1022-2A>T (n.1022-2A>T) c.1142-2A>T (n.1142-2A>T) c.1175-2A>T (n.1175-2A>T) c.1163-2A>T (n.1163-2A>T) c.1154-2A>T (n.1154-2A>T) c.1055-2A>T (n.1055-2A>T) c.1043-2A>T (n.1043-2A>T) c.440-2A>T (n.440-2A>T) | |
| 19 | g.18069715T>C | CA404779165 | IL12RB1 | c.1022-2A>G (n.1022-2A>G) c.1142-2A>G (n.1142-2A>G) c.1175-2A>G (n.1175-2A>G) c.1163-2A>G (n.1163-2A>G) c.1154-2A>G (n.1154-2A>G) c.1055-2A>G (n.1055-2A>G) c.1043-2A>G (n.1043-2A>G) c.440-2A>G (n.440-2A>G) | |
| 19 | g.18069715T>G | CA404779164 | IL12RB1 | c.1022-2A>C (n.1022-2A>C) c.1142-2A>C (n.1142-2A>C) c.1175-2A>C (n.1175-2A>C) c.1163-2A>C (n.1163-2A>C) c.1154-2A>C (n.1154-2A>C) c.1055-2A>C (n.1055-2A>C) c.1043-2A>C (n.1043-2A>C) c.440-2A>C (n.440-2A>C) | |
| 19 | g.18069716G>A | CA2583510288 | IL12RB1 | c.1022-3C>T (n.1022-3C>T) c.1142-3C>T (n.1142-3C>T) c.1175-3C>T (n.1175-3C>T) c.1163-3C>T (n.1163-3C>T) c.1154-3C>T (n.1154-3C>T) c.1055-3C>T (n.1055-3C>T) c.1043-3C>T (n.1043-3C>T) c.440-3C>T (n.440-3C>T) | gnomAD v4 |
| 19 | g.18069716G>T | CA2583510289 | IL12RB1 | c.1022-3C>A (n.1022-3C>A) c.1142-3C>A (n.1142-3C>A) c.1175-3C>A (n.1175-3C>A) c.1163-3C>A (n.1163-3C>A) c.1154-3C>A (n.1154-3C>A) c.1055-3C>A (n.1055-3C>A) c.1043-3C>A (n.1043-3C>A) c.440-3C>A (n.440-3C>A) | dbSNP gnomAD v4 |
| 19 | g.18069717G>A | CA2583510290 | IL12RB1 | c.1022-4C>T (n.1022-4C>T) c.1142-4C>T (n.1142-4C>T) c.1175-4C>T (n.1175-4C>T) c.1163-4C>T (n.1163-4C>T) c.1154-4C>T (n.1154-4C>T) c.1055-4C>T (n.1055-4C>T) c.1043-4C>T (n.1043-4C>T) c.440-4C>T (n.440-4C>T) | gnomAD v4 |
| 19 | g.18069717G>T | CA2583510291 | IL12RB1 | c.1022-4C>A (n.1022-4C>A) c.1142-4C>A (n.1142-4C>A) c.1175-4C>A (n.1175-4C>A) c.1163-4C>A (n.1163-4C>A) c.1154-4C>A (n.1154-4C>A) c.1055-4C>A (n.1055-4C>A) c.1043-4C>A (n.1043-4C>A) c.440-4C>A (n.440-4C>A) | gnomAD v4 |
| 19 | g.18069718A>G | CA2576772378 | IL12RB1 | c.1022-5T>C (n.1022-5T>C) c.1142-5T>C (n.1142-5T>C) c.1175-5T>C (n.1175-5T>C) c.1163-5T>C (n.1163-5T>C) c.1154-5T>C (n.1154-5T>C) c.1055-5T>C (n.1055-5T>C) c.1043-5T>C (n.1043-5T>C) c.440-5T>C (n.440-5T>C) | |
| 19 | g.18069718A>T | CA2583510292 | IL12RB1 | c.1022-5T>A (n.1022-5T>A) c.1142-5T>A (n.1142-5T>A) c.1175-5T>A (n.1175-5T>A) c.1163-5T>A (n.1163-5T>A) c.1154-5T>A (n.1154-5T>A) c.1055-5T>A (n.1055-5T>A) c.1043-5T>A (n.1043-5T>A) c.440-5T>A (n.440-5T>A) | gnomAD v4 |
| 19 | g.18069719del | CA2576772377 | IL12RB1 | c.1022-5del (n.1022-5del) c.1142-5del (n.1142-5del) c.1175-5del (n.1175-5del) c.1163-5del (n.1163-5del) c.1154-5del (n.1154-5del) c.1055-5del (n.1055-5del) c.1043-5del (n.1043-5del) c.440-5del (n.440-5del) | gnomAD v4 |
| 19 | g.18069720G= | CA2326169910 | IL12RB1 | c.1022-7C= (n.1022-7C=) c.1142-7C= (n.1142-7C=) c.1175-7C= (n.1175-7C=) c.1163-7C= (n.1163-7C=) c.1154-7C= (n.1154-7C=) c.1055-7C= (n.1055-7C=) c.1043-7C= (n.1043-7C=) c.440-7C= (n.440-7C=) | |
| 19 | g.18069720G>T | CA2549543500 | IL12RB1 | c.1022-7C>A (n.1022-7C>A) c.1142-7C>A (n.1142-7C>A) c.1175-7C>A (n.1175-7C>A) c.1163-7C>A (n.1163-7C>A) c.1154-7C>A (n.1154-7C>A) c.1055-7C>A (n.1055-7C>A) c.1043-7C>A (n.1043-7C>A) c.440-7C>A (n.440-7C>A) | gnomAD v4 |
| 19 | g.18069721G>A | CA2326169912 | IL12RB1 | c.1022-8C>T (n.1022-8C>T) c.1142-8C>T (n.1142-8C>T) c.1175-8C>T (n.1175-8C>T) c.1163-8C>T (n.1163-8C>T) c.1154-8C>T (n.1154-8C>T) c.1055-8C>T (n.1055-8C>T) c.1043-8C>T (n.1043-8C>T) c.440-8C>T (n.440-8C>T) | dbSNP gnomAD v4 |
| 19 | g.18069721G= | CA2326169911 | IL12RB1 | c.1022-8C= (n.1022-8C=) c.1142-8C= (n.1142-8C=) c.1175-8C= (n.1175-8C=) c.1163-8C= (n.1163-8C=) c.1154-8C= (n.1154-8C=) c.1055-8C= (n.1055-8C=) c.1043-8C= (n.1043-8C=) c.440-8C= (n.440-8C=) | |
| 19 | g.18069721G>T | CA783900107 | IL12RB1 | c.1022-8C>A (n.1022-8C>A) c.1142-8C>A (n.1142-8C>A) c.1175-8C>A (n.1175-8C>A) c.1163-8C>A (n.1163-8C>A) c.1154-8C>A (n.1154-8C>A) c.1055-8C>A (n.1055-8C>A) c.1043-8C>A (n.1043-8C>A) c.440-8C>A (n.440-8C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18069724_18069725dup | CA9304980 | IL12RB1 | c.1022-9_1022-8dup (n.1022-9_1022-8dup) c.1142-9_1142-8dup (n.1142-9_1142-8dup) c.1175-9_1175-8dup (n.1175-9_1175-8dup) c.1163-9_1163-8dup (n.1163-9_1163-8dup) c.1154-9_1154-8dup (n.1154-9_1154-8dup) c.1055-9_1055-8dup (n.1055-9_1055-8dup) c.1043-9_1043-8dup (n.1043-9_1043-8dup) c.440-9_440-8dup (n.440-9_440-8dup) | dbSNP ExAC gnomAD v2 |
| 19 | g.18069724_18069725del | CA2576772379 | IL12RB1 | c.1022-9_1022-8del (n.1022-9_1022-8del) c.1142-9_1142-8del (n.1142-9_1142-8del) c.1175-9_1175-8del (n.1175-9_1175-8del) c.1163-9_1163-8del (n.1163-9_1163-8del) c.1154-9_1154-8del (n.1154-9_1154-8del) c.1055-9_1055-8del (n.1055-9_1055-8del) c.1043-9_1043-8del (n.1043-9_1043-8del) c.440-9_440-8del (n.440-9_440-8del) | ClinVar gnomAD v4 |
| 19 | g.18069723G>A | CA2583510293 | IL12RB1 | c.1022-10C>T (n.1022-10C>T) c.1142-10C>T (n.1142-10C>T) c.1175-10C>T (n.1175-10C>T) c.1163-10C>T (n.1163-10C>T) c.1154-10C>T (n.1154-10C>T) c.1055-10C>T (n.1055-10C>T) c.1043-10C>T (n.1043-10C>T) c.440-10C>T (n.440-10C>T) | gnomAD v4 |
| 19 | g.18069723G>C | CA2583510294 | IL12RB1 | c.1022-10C>G (n.1022-10C>G) c.1142-10C>G (n.1142-10C>G) c.1175-10C>G (n.1175-10C>G) c.1163-10C>G (n.1163-10C>G) c.1154-10C>G (n.1154-10C>G) c.1055-10C>G (n.1055-10C>G) c.1043-10C>G (n.1043-10C>G) c.440-10C>G (n.440-10C>G) | gnomAD v4 |
| 19 | g.18069723G>T | CA2583510295 | IL12RB1 | c.1022-10C>A (n.1022-10C>A) c.1142-10C>A (n.1142-10C>A) c.1175-10C>A (n.1175-10C>A) c.1163-10C>A (n.1163-10C>A) c.1154-10C>A (n.1154-10C>A) c.1055-10C>A (n.1055-10C>A) c.1043-10C>A (n.1043-10C>A) c.440-10C>A (n.440-10C>A) | gnomAD v4 |
| 19 | g.18069724del | CA2697556409 | IL12RB1 | c.1022-11del (n.1022-11del) c.1142-11del (n.1142-11del) c.1175-11del (n.1175-11del) c.1163-11del (n.1163-11del) c.1154-11del (n.1154-11del) c.1055-11del (n.1055-11del) c.1043-11del (n.1043-11del) c.440-11del (n.440-11del) | ClinVar |
| 19 | g.18069724A>G | CA2583510296 | IL12RB1 | c.1022-11T>C (n.1022-11T>C) c.1142-11T>C (n.1142-11T>C) c.1175-11T>C (n.1175-11T>C) c.1163-11T>C (n.1163-11T>C) c.1154-11T>C (n.1154-11T>C) c.1055-11T>C (n.1055-11T>C) c.1043-11T>C (n.1043-11T>C) c.440-11T>C (n.440-11T>C) | gnomAD v4 |
| 19 | g.18069724_18069725delinsAG | CA2326169913 | IL12RB1 | c.1022-12_1022-11delinsCT (n.1022-12_1022-11delinsCT) c.1142-12_1142-11delinsCT (n.1142-12_1142-11delinsCT) c.1175-12_1175-11delinsCT (n.1175-12_1175-11delinsCT) c.1163-12_1163-11delinsCT (n.1163-12_1163-11delinsCT) c.1154-12_1154-11delinsCT (n.1154-12_1154-11delinsCT) c.1055-12_1055-11delinsCT (n.1055-12_1055-11delinsCT) c.1043-12_1043-11delinsCT (n.1043-12_1043-11delinsCT) c.440-12_440-11delinsCT (n.440-12_440-11delinsCT) | |
| 19 | g.18069725G>C | CA9304981 | IL12RB1 | c.1022-12C>G (n.1022-12C>G) c.1142-12C>G (n.1142-12C>G) c.1175-12C>G (n.1175-12C>G) c.1163-12C>G (n.1163-12C>G) c.1154-12C>G (n.1154-12C>G) c.1055-12C>G (n.1055-12C>G) c.1043-12C>G (n.1043-12C>G) c.440-12C>G (n.440-12C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18069725G= | CA2326169914 | IL12RB1 | c.1022-12C= (n.1022-12C=) c.1142-12C= (n.1142-12C=) c.1175-12C= (n.1175-12C=) c.1163-12C= (n.1163-12C=) c.1154-12C= (n.1154-12C=) c.1055-12C= (n.1055-12C=) c.1043-12C= (n.1043-12C=) c.440-12C= (n.440-12C=) | |
| 19 | g.18069725G>T | CA2583510297 | IL12RB1 | c.1022-12C>A (n.1022-12C>A) c.1142-12C>A (n.1142-12C>A) c.1175-12C>A (n.1175-12C>A) c.1163-12C>A (n.1163-12C>A) c.1154-12C>A (n.1154-12C>A) c.1055-12C>A (n.1055-12C>A) c.1043-12C>A (n.1043-12C>A) c.440-12C>A (n.440-12C>A) | gnomAD v4 |
| 19 | g.18069728del | CA632136855 | IL12RB1 | c.1022-12del (n.1022-12del) c.1142-12del (n.1142-12del) c.1175-12del (n.1175-12del) c.1163-12del (n.1163-12del) c.1154-12del (n.1154-12del) c.1055-12del (n.1055-12del) c.1043-12del (n.1043-12del) c.440-12del (n.440-12del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18069726G>A | CA632136856 | IL12RB1 | c.1022-13C>T (n.1022-13C>T) c.1142-13C>T (n.1142-13C>T) c.1175-13C>T (n.1175-13C>T) c.1163-13C>T (n.1163-13C>T) c.1154-13C>T (n.1154-13C>T) c.1055-13C>T (n.1055-13C>T) c.1043-13C>T (n.1043-13C>T) c.440-13C>T (n.440-13C>T) | dbSNP gnomAD v2 |
| 19 | g.18069726G= | CA2326169915 | IL12RB1 | c.1022-13C= (n.1022-13C=) c.1142-13C= (n.1142-13C=) c.1175-13C= (n.1175-13C=) c.1163-13C= (n.1163-13C=) c.1154-13C= (n.1154-13C=) c.1055-13C= (n.1055-13C=) c.1043-13C= (n.1043-13C=) c.440-13C= (n.440-13C=) | |
| 19 | g.18069726G>T | CA2583510298 | IL12RB1 | c.1022-13C>A (n.1022-13C>A) c.1142-13C>A (n.1142-13C>A) c.1175-13C>A (n.1175-13C>A) c.1163-13C>A (n.1163-13C>A) c.1154-13C>A (n.1154-13C>A) c.1055-13C>A (n.1055-13C>A) c.1043-13C>A (n.1043-13C>A) c.440-13C>A (n.440-13C>A) | gnomAD v4 |
| 19 | g.18069727G>A | CA2583510299 | IL12RB1 | c.1022-14C>T (n.1022-14C>T) c.1142-14C>T (n.1142-14C>T) c.1175-14C>T (n.1175-14C>T) c.1163-14C>T (n.1163-14C>T) c.1154-14C>T (n.1154-14C>T) c.1055-14C>T (n.1055-14C>T) c.1043-14C>T (n.1043-14C>T) c.440-14C>T (n.440-14C>T) | gnomAD v4 |
| 19 | g.18069727G>C | CA9304982 | IL12RB1 | c.1022-14C>G (n.1022-14C>G) c.1142-14C>G (n.1142-14C>G) c.1175-14C>G (n.1175-14C>G) c.1163-14C>G (n.1163-14C>G) c.1154-14C>G (n.1154-14C>G) c.1055-14C>G (n.1055-14C>G) c.1043-14C>G (n.1043-14C>G) c.440-14C>G (n.440-14C>G) | dbSNP ExAC gnomAD v2 |
| 19 | g.18069727G= | CA2326169916 | IL12RB1 | c.1022-14C= (n.1022-14C=) c.1142-14C= (n.1142-14C=) c.1175-14C= (n.1175-14C=) c.1163-14C= (n.1163-14C=) c.1154-14C= (n.1154-14C=) c.1055-14C= (n.1055-14C=) c.1043-14C= (n.1043-14C=) c.440-14C= (n.440-14C=) | |
| 19 | g.18069727G>T | CA2583510300 | IL12RB1 | c.1022-14C>A (n.1022-14C>A) c.1142-14C>A (n.1142-14C>A) c.1175-14C>A (n.1175-14C>A) c.1163-14C>A (n.1163-14C>A) c.1154-14C>A (n.1154-14C>A) c.1055-14C>A (n.1055-14C>A) c.1043-14C>A (n.1043-14C>A) c.440-14C>A (n.440-14C>A) | gnomAD v4 |
| 19 | g.18069728G>A | CA783900137 | IL12RB1 | c.1022-15C>T (n.1022-15C>T) c.1142-15C>T (n.1142-15C>T) c.1175-15C>T (n.1175-15C>T) c.1163-15C>T (n.1163-15C>T) c.1154-15C>T (n.1154-15C>T) c.1055-15C>T (n.1055-15C>T) c.1043-15C>T (n.1043-15C>T) c.440-15C>T (n.440-15C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18069728G>C | CA2576772380 | IL12RB1 | c.1022-15C>G (n.1022-15C>G) c.1142-15C>G (n.1142-15C>G) c.1175-15C>G (n.1175-15C>G) c.1163-15C>G (n.1163-15C>G) c.1154-15C>G (n.1154-15C>G) c.1055-15C>G (n.1055-15C>G) c.1043-15C>G (n.1043-15C>G) c.440-15C>G (n.440-15C>G) | |
| 19 | g.18069728G= | CA2326169917 | IL12RB1 | c.1022-15C= (n.1022-15C=) c.1142-15C= (n.1142-15C=) c.1175-15C= (n.1175-15C=) c.1163-15C= (n.1163-15C=) c.1154-15C= (n.1154-15C=) c.1055-15C= (n.1055-15C=) c.1043-15C= (n.1043-15C=) c.440-15C= (n.440-15C=) | |
| 19 | g.18069732_18069733del | CA2583510301 | IL12RB1 | c.1022-16_1022-15del (n.1022-16_1022-15del) c.1142-16_1142-15del (n.1142-16_1142-15del) c.1175-16_1175-15del (n.1175-16_1175-15del) c.1163-16_1163-15del (n.1163-16_1163-15del) c.1154-16_1154-15del (n.1154-16_1154-15del) c.1055-16_1055-15del (n.1055-16_1055-15del) c.1043-16_1043-15del (n.1043-16_1043-15del) c.440-16_440-15del (n.440-16_440-15del) | gnomAD v4 |
| 19 | g.18069729A>G | CA2583510302 | IL12RB1 | c.1022-16T>C (n.1022-16T>C) c.1142-16T>C (n.1142-16T>C) c.1175-16T>C (n.1175-16T>C) c.1163-16T>C (n.1163-16T>C) c.1154-16T>C (n.1154-16T>C) c.1055-16T>C (n.1055-16T>C) c.1043-16T>C (n.1043-16T>C) c.440-16T>C (n.440-16T>C) | gnomAD v4 |
| 19 | g.18069730G>A | CA2576772381 | IL12RB1 | c.1022-17C>T (n.1022-17C>T) c.1142-17C>T (n.1142-17C>T) c.1175-17C>T (n.1175-17C>T) c.1163-17C>T (n.1163-17C>T) c.1154-17C>T (n.1154-17C>T) c.1055-17C>T (n.1055-17C>T) c.1043-17C>T (n.1043-17C>T) c.440-17C>T (n.440-17C>T) | gnomAD v4 |
| 19 | g.18069730G>C | CA632136857 | IL12RB1 | c.1022-17C>G (n.1022-17C>G) c.1142-17C>G (n.1142-17C>G) c.1175-17C>G (n.1175-17C>G) c.1163-17C>G (n.1163-17C>G) c.1154-17C>G (n.1154-17C>G) c.1055-17C>G (n.1055-17C>G) c.1043-17C>G (n.1043-17C>G) c.440-17C>G (n.440-17C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18069730G= | CA2326169918 | IL12RB1 | c.1022-17C= (n.1022-17C=) c.1142-17C= (n.1142-17C=) c.1175-17C= (n.1175-17C=) c.1163-17C= (n.1163-17C=) c.1154-17C= (n.1154-17C=) c.1055-17C= (n.1055-17C=) c.1043-17C= (n.1043-17C=) c.440-17C= (n.440-17C=) | |
| 19 | g.18069730G>T | CA2583510303 | IL12RB1 | c.1022-17C>A (n.1022-17C>A) c.1142-17C>A (n.1142-17C>A) c.1175-17C>A (n.1175-17C>A) c.1163-17C>A (n.1163-17C>A) c.1154-17C>A (n.1154-17C>A) c.1055-17C>A (n.1055-17C>A) c.1043-17C>A (n.1043-17C>A) c.440-17C>A (n.440-17C>A) | gnomAD v4 |
| 19 | g.18069731A= | CA2326169919 | IL12RB1 | c.1022-18T= (n.1022-18T=) c.1142-18T= (n.1142-18T=) c.1175-18T= (n.1175-18T=) c.1163-18T= (n.1163-18T=) c.1154-18T= (n.1154-18T=) c.1055-18T= (n.1055-18T=) c.1043-18T= (n.1043-18T=) c.440-18T= (n.440-18T=) | |
| 19 | g.18069731A>G | CA2326169920 | IL12RB1 | c.1022-18T>C (n.1022-18T>C) c.1142-18T>C (n.1142-18T>C) c.1175-18T>C (n.1175-18T>C) c.1163-18T>C (n.1163-18T>C) c.1154-18T>C (n.1154-18T>C) c.1055-18T>C (n.1055-18T>C) c.1043-18T>C (n.1043-18T>C) c.440-18T>C (n.440-18T>C) | dbSNP gnomAD v4 |
| 19 | g.18069731_18069732delinsAG | CA2326169921 | IL12RB1 | c.1022-19_1022-18delinsCT (n.1022-19_1022-18delinsCT) c.1142-19_1142-18delinsCT (n.1142-19_1142-18delinsCT) c.1175-19_1175-18delinsCT (n.1175-19_1175-18delinsCT) c.1163-19_1163-18delinsCT (n.1163-19_1163-18delinsCT) c.1154-19_1154-18delinsCT (n.1154-19_1154-18delinsCT) c.1055-19_1055-18delinsCT (n.1055-19_1055-18delinsCT) c.1043-19_1043-18delinsCT (n.1043-19_1043-18delinsCT) c.440-19_440-18delinsCT (n.440-19_440-18delinsCT) | |
| 19 | g.18069732del | CA2326169922 | IL12RB1 | c.1022-19del (n.1022-19del) c.1142-19del (n.1142-19del) c.1175-19del (n.1175-19del) c.1163-19del (n.1163-19del) c.1154-19del (n.1154-19del) c.1055-19del (n.1055-19del) c.1043-19del (n.1043-19del) c.440-19del (n.440-19del) | dbSNP gnomAD v4 |
| 19 | g.18069732G>T | CA2583510304 | IL12RB1 | c.1022-19C>A (n.1022-19C>A) c.1142-19C>A (n.1142-19C>A) c.1175-19C>A (n.1175-19C>A) c.1163-19C>A (n.1163-19C>A) c.1154-19C>A (n.1154-19C>A) c.1055-19C>A (n.1055-19C>A) c.1043-19C>A (n.1043-19C>A) c.440-19C>A (n.440-19C>A) | gnomAD v4 |
| 19 | g.18069733A= | CA2326169923 | IL12RB1 | c.1022-20T= (n.1022-20T=) c.1142-20T= (n.1142-20T=) c.1175-20T= (n.1175-20T=) c.1163-20T= (n.1163-20T=) c.1154-20T= (n.1154-20T=) c.1055-20T= (n.1055-20T=) c.1043-20T= (n.1043-20T=) c.440-20T= (n.440-20T=) | |
| 19 | g.18069733A>G | CA632136858 | IL12RB1 | c.1022-20T>C (n.1022-20T>C) c.1142-20T>C (n.1142-20T>C) c.1175-20T>C (n.1175-20T>C) c.1163-20T>C (n.1163-20T>C) c.1154-20T>C (n.1154-20T>C) c.1055-20T>C (n.1055-20T>C) c.1043-20T>C (n.1043-20T>C) c.440-20T>C (n.440-20T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18069734C>A | CA994181411 | IL12RB1 | c.1022-21G>T (n.1022-21G>T) c.1142-21G>T (n.1142-21G>T) c.1175-21G>T (n.1175-21G>T) c.1163-21G>T (n.1163-21G>T) c.1154-21G>T (n.1154-21G>T) c.1055-21G>T (n.1055-21G>T) c.1043-21G>T (n.1043-21G>T) c.440-21G>T (n.440-21G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18069734C= | CA2326169924 | IL12RB1 | c.1022-21G= (n.1022-21G=) c.1142-21G= (n.1142-21G=) c.1175-21G= (n.1175-21G=) c.1163-21G= (n.1163-21G=) c.1154-21G= (n.1154-21G=) c.1055-21G= (n.1055-21G=) c.1043-21G= (n.1043-21G=) c.440-21G= (n.440-21G=) | |
| 19 | g.18069734C>G | CA2326169925 | IL12RB1 | c.1022-21G>C (n.1022-21G>C) c.1142-21G>C (n.1142-21G>C) c.1175-21G>C (n.1175-21G>C) c.1163-21G>C (n.1163-21G>C) c.1154-21G>C (n.1154-21G>C) c.1055-21G>C (n.1055-21G>C) c.1043-21G>C (n.1043-21G>C) c.440-21G>C (n.440-21G>C) | dbSNP gnomAD v4 |
| 19 | g.18069734C>T | CA9304983 | IL12RB1 | c.1022-21G>A (n.1022-21G>A) c.1142-21G>A (n.1142-21G>A) c.1175-21G>A (n.1175-21G>A) c.1163-21G>A (n.1163-21G>A) c.1154-21G>A (n.1154-21G>A) c.1055-21G>A (n.1055-21G>A) c.1043-21G>A (n.1043-21G>A) c.440-21G>A (n.440-21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18069735G>A | CA9304984 | IL12RB1 | c.1022-22C>T (n.1022-22C>T) c.1142-22C>T (n.1142-22C>T) c.1175-22C>T (n.1175-22C>T) c.1163-22C>T (n.1163-22C>T) c.1154-22C>T (n.1154-22C>T) c.1055-22C>T (n.1055-22C>T) c.1043-22C>T (n.1043-22C>T) c.440-22C>T (n.440-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18069735G= | CA2326169926 | IL12RB1 | c.1022-22C= (n.1022-22C=) c.1142-22C= (n.1142-22C=) c.1175-22C= (n.1175-22C=) c.1163-22C= (n.1163-22C=) c.1154-22C= (n.1154-22C=) c.1055-22C= (n.1055-22C=) c.1043-22C= (n.1043-22C=) c.440-22C= (n.440-22C=) | |
| 19 | g.18069735G>T | CA2583510305 | IL12RB1 | c.1022-22C>A (n.1022-22C>A) c.1142-22C>A (n.1142-22C>A) c.1175-22C>A (n.1175-22C>A) c.1163-22C>A (n.1163-22C>A) c.1154-22C>A (n.1154-22C>A) c.1055-22C>A (n.1055-22C>A) c.1043-22C>A (n.1043-22C>A) c.440-22C>A (n.440-22C>A) | gnomAD v4 |
| 19 | g.18069735_18069736delinsGC | CA2326169927 | IL12RB1 | c.1022-23_1022-22delinsGC (n.1022-23_1022-22delinsGC) c.1142-23_1142-22delinsGC (n.1142-23_1142-22delinsGC) c.1175-23_1175-22delinsGC (n.1175-23_1175-22delinsGC) c.1163-23_1163-22delinsGC (n.1163-23_1163-22delinsGC) c.1154-23_1154-22delinsGC (n.1154-23_1154-22delinsGC) c.1055-23_1055-22delinsGC (n.1055-23_1055-22delinsGC) c.1043-23_1043-22delinsGC (n.1043-23_1043-22delinsGC) c.440-23_440-22delinsGC (n.440-23_440-22delinsGC) | |
| 19 | g.18069736del | CA632136859 | IL12RB1 | c.1022-23del (n.1022-23del) c.1142-23del (n.1142-23del) c.1175-23del (n.1175-23del) c.1163-23del (n.1163-23del) c.1154-23del (n.1154-23del) c.1055-23del (n.1055-23del) c.1043-23del (n.1043-23del) c.440-23del (n.440-23del) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18069736C>T | CA2583510306 | IL12RB1 | c.1022-23G>A (n.1022-23G>A) c.1142-23G>A (n.1142-23G>A) c.1175-23G>A (n.1175-23G>A) c.1163-23G>A (n.1163-23G>A) c.1154-23G>A (n.1154-23G>A) c.1055-23G>A (n.1055-23G>A) c.1043-23G>A (n.1043-23G>A) c.440-23G>A (n.440-23G>A) | gnomAD v4 |
| 19 | g.18069737A= | CA2326169928 | IL12RB1 | c.1022-24T= (n.1022-24T=) c.1142-24T= (n.1142-24T=) c.1175-24T= (n.1175-24T=) c.1163-24T= (n.1163-24T=) c.1154-24T= (n.1154-24T=) c.1055-24T= (n.1055-24T=) c.1043-24T= (n.1043-24T=) c.440-24T= (n.440-24T=) | |
| 19 | g.18069737A>G | CA9304985 | IL12RB1 | c.1022-24T>C (n.1022-24T>C) c.1142-24T>C (n.1142-24T>C) c.1175-24T>C (n.1175-24T>C) c.1163-24T>C (n.1163-24T>C) c.1154-24T>C (n.1154-24T>C) c.1055-24T>C (n.1055-24T>C) c.1043-24T>C (n.1043-24T>C) c.440-24T>C (n.440-24T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18069737_18069743dup | CA2583510307 | IL12RB1 | c.1022-30_1022-24dup (n.1022-30_1022-24dup) c.1142-30_1142-24dup (n.1142-30_1142-24dup) c.1175-30_1175-24dup (n.1175-30_1175-24dup) c.1163-30_1163-24dup (n.1163-30_1163-24dup) c.1154-30_1154-24dup (n.1154-30_1154-24dup) c.1055-30_1055-24dup (n.1055-30_1055-24dup) c.1043-30_1043-24dup (n.1043-30_1043-24dup) c.440-30_440-24dup (n.440-30_440-24dup) | gnomAD v4 |
| 19 | g.18069738T>C | CA2583510308 | IL12RB1 | c.1022-25A>G (n.1022-25A>G) c.1142-25A>G (n.1142-25A>G) c.1175-25A>G (n.1175-25A>G) c.1163-25A>G (n.1163-25A>G) c.1154-25A>G (n.1154-25A>G) c.1055-25A>G (n.1055-25A>G) c.1043-25A>G (n.1043-25A>G) c.440-25A>G (n.440-25A>G) | gnomAD v4 |
| 19 | g.18069739C>A | CA2583510309 | IL12RB1 | c.1022-26G>T (n.1022-26G>T) c.1142-26G>T (n.1142-26G>T) c.1175-26G>T (n.1175-26G>T) c.1163-26G>T (n.1163-26G>T) c.1154-26G>T (n.1154-26G>T) c.1055-26G>T (n.1055-26G>T) c.1043-26G>T (n.1043-26G>T) c.440-26G>T (n.440-26G>T) | gnomAD v4 |
| 19 | g.18069739C= | CA2326169929 | IL12RB1 | c.1022-26G= (n.1022-26G=) c.1142-26G= (n.1142-26G=) c.1175-26G= (n.1175-26G=) c.1163-26G= (n.1163-26G=) c.1154-26G= (n.1154-26G=) c.1055-26G= (n.1055-26G=) c.1043-26G= (n.1043-26G=) c.440-26G= (n.440-26G=) | |
| 19 | g.18069739C>G | CA783900150 | IL12RB1 | c.1022-26G>C (n.1022-26G>C) c.1142-26G>C (n.1142-26G>C) c.1175-26G>C (n.1175-26G>C) c.1163-26G>C (n.1163-26G>C) c.1154-26G>C (n.1154-26G>C) c.1055-26G>C (n.1055-26G>C) c.1043-26G>C (n.1043-26G>C) c.440-26G>C (n.440-26G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18069739C>T | CA2583510310 | IL12RB1 | c.1022-26G>A (n.1022-26G>A) c.1142-26G>A (n.1142-26G>A) c.1175-26G>A (n.1175-26G>A) c.1163-26G>A (n.1163-26G>A) c.1154-26G>A (n.1154-26G>A) c.1055-26G>A (n.1055-26G>A) c.1043-26G>A (n.1043-26G>A) c.440-26G>A (n.440-26G>A) | gnomAD v4 |
| 19 | g.18069740G>A | CA632136860 | IL12RB1 | c.1022-27C>T (n.1022-27C>T) c.1142-27C>T (n.1142-27C>T) c.1175-27C>T (n.1175-27C>T) c.1163-27C>T (n.1163-27C>T) c.1154-27C>T (n.1154-27C>T) c.1055-27C>T (n.1055-27C>T) c.1043-27C>T (n.1043-27C>T) c.440-27C>T (n.440-27C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18069740G>C | CA9304986 | IL12RB1 | c.1022-27C>G (n.1022-27C>G) c.1142-27C>G (n.1142-27C>G) c.1175-27C>G (n.1175-27C>G) c.1163-27C>G (n.1163-27C>G) c.1154-27C>G (n.1154-27C>G) c.1055-27C>G (n.1055-27C>G) c.1043-27C>G (n.1043-27C>G) c.440-27C>G (n.440-27C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18069740G= | CA2326169930 | IL12RB1 | c.1022-27C= (n.1022-27C=) c.1142-27C= (n.1142-27C=) c.1175-27C= (n.1175-27C=) c.1163-27C= (n.1163-27C=) c.1154-27C= (n.1154-27C=) c.1055-27C= (n.1055-27C=) c.1043-27C= (n.1043-27C=) c.440-27C= (n.440-27C=) | |
| 19 | g.18069740G>T | CA2576772382 | IL12RB1 | c.1022-27C>A (n.1022-27C>A) c.1142-27C>A (n.1142-27C>A) c.1175-27C>A (n.1175-27C>A) c.1163-27C>A (n.1163-27C>A) c.1154-27C>A (n.1154-27C>A) c.1055-27C>A (n.1055-27C>A) c.1043-27C>A (n.1043-27C>A) c.440-27C>A (n.440-27C>A) | gnomAD v4 |
| 19 | g.18069742G>T | CA2576772383 | IL12RB1 | c.1022-29C>A (n.1022-29C>A) c.1142-29C>A (n.1142-29C>A) c.1175-29C>A (n.1175-29C>A) c.1163-29C>A (n.1163-29C>A) c.1154-29C>A (n.1154-29C>A) c.1055-29C>A (n.1055-29C>A) c.1043-29C>A (n.1043-29C>A) c.440-29C>A (n.440-29C>A) | gnomAD v4 |
| 19 | g.18069743A>G | CA2813822337 | IL12RB1 | c.1022-30T>C (n.1022-30T>C) c.1142-30T>C (n.1142-30T>C) c.1175-30T>C (n.1175-30T>C) c.1163-30T>C (n.1163-30T>C) c.1154-30T>C (n.1154-30T>C) c.1055-30T>C (n.1055-30T>C) c.1043-30T>C (n.1043-30T>C) c.440-30T>C (n.440-30T>C) | |
| 19 | g.18069744del | CA2576772384 | IL12RB1 | c.1022-31del (n.1022-31del) c.1142-31del (n.1142-31del) c.1175-31del (n.1175-31del) c.1163-31del (n.1163-31del) c.1154-31del (n.1154-31del) c.1055-31del (n.1055-31del) c.1043-31del (n.1043-31del) c.440-31del (n.440-31del) | |
| 19 | g.18069744C= | CA2326169931 | IL12RB1 | c.1022-31G= (n.1022-31G=) c.1142-31G= (n.1142-31G=) c.1175-31G= (n.1175-31G=) c.1163-31G= (n.1163-31G=) c.1154-31G= (n.1154-31G=) c.1055-31G= (n.1055-31G=) c.1043-31G= (n.1043-31G=) c.440-31G= (n.440-31G=) | |
| 19 | g.18069744C>T | CA783900154 | IL12RB1 | c.1022-31G>A (n.1022-31G>A) c.1142-31G>A (n.1142-31G>A) c.1175-31G>A (n.1175-31G>A) c.1163-31G>A (n.1163-31G>A) c.1154-31G>A (n.1154-31G>A) c.1055-31G>A (n.1055-31G>A) c.1043-31G>A (n.1043-31G>A) c.440-31G>A (n.440-31G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18069745A>G | CA2583510311 | IL12RB1 | c.1022-32T>C (n.1022-32T>C) c.1142-32T>C (n.1142-32T>C) c.1175-32T>C (n.1175-32T>C) c.1163-32T>C (n.1163-32T>C) c.1154-32T>C (n.1154-32T>C) c.1055-32T>C (n.1055-32T>C) c.1043-32T>C (n.1043-32T>C) c.440-32T>C (n.440-32T>C) | gnomAD v4 |
| 19 | g.18069745A>T | CA2583510312 | IL12RB1 | c.1022-32T>A (n.1022-32T>A) c.1142-32T>A (n.1142-32T>A) c.1175-32T>A (n.1175-32T>A) c.1163-32T>A (n.1163-32T>A) c.1154-32T>A (n.1154-32T>A) c.1055-32T>A (n.1055-32T>A) c.1043-32T>A (n.1043-32T>A) c.440-32T>A (n.440-32T>A) | gnomAD v4 |
| 19 | g.18069746G>A | CA2583510314 | IL12RB1 | c.1022-33C>T (n.1022-33C>T) c.1142-33C>T (n.1142-33C>T) c.1175-33C>T (n.1175-33C>T) c.1163-33C>T (n.1163-33C>T) c.1154-33C>T (n.1154-33C>T) c.1055-33C>T (n.1055-33C>T) c.1043-33C>T (n.1043-33C>T) c.440-33C>T (n.440-33C>T) | gnomAD v4 |
| 19 | g.18069746G>T | CA2583510313 | IL12RB1 | c.1022-33C>A (n.1022-33C>A) c.1142-33C>A (n.1142-33C>A) c.1175-33C>A (n.1175-33C>A) c.1163-33C>A (n.1163-33C>A) c.1154-33C>A (n.1154-33C>A) c.1055-33C>A (n.1055-33C>A) c.1043-33C>A (n.1043-33C>A) c.440-33C>A (n.440-33C>A) | gnomAD v4 |
| 19 | g.18069747T>C | CA2583510315 | IL12RB1 | c.1022-34A>G (n.1022-34A>G) c.1142-34A>G (n.1142-34A>G) c.1175-34A>G (n.1175-34A>G) c.1163-34A>G (n.1163-34A>G) c.1154-34A>G (n.1154-34A>G) c.1055-34A>G (n.1055-34A>G) c.1043-34A>G (n.1043-34A>G) c.440-34A>G (n.440-34A>G) | gnomAD v4 |
| 19 | g.18069748T>C | CA2583510316 | IL12RB1 | c.1022-35A>G (n.1022-35A>G) c.1142-35A>G (n.1142-35A>G) c.1175-35A>G (n.1175-35A>G) c.1163-35A>G (n.1163-35A>G) c.1154-35A>G (n.1154-35A>G) c.1055-35A>G (n.1055-35A>G) c.1043-35A>G (n.1043-35A>G) c.440-35A>G (n.440-35A>G) | gnomAD v4 |
| 19 | g.18069749G>A | CA2576772385 | IL12RB1 | c.1022-36C>T (n.1022-36C>T) c.1142-36C>T (n.1142-36C>T) c.1175-36C>T (n.1175-36C>T) c.1163-36C>T (n.1163-36C>T) c.1154-36C>T (n.1154-36C>T) c.1055-36C>T (n.1055-36C>T) c.1043-36C>T (n.1043-36C>T) c.440-36C>T (n.440-36C>T) | gnomAD v4 |
| 19 | g.18069749G>T | CA2583510317 | IL12RB1 | c.1022-36C>A (n.1022-36C>A) c.1142-36C>A (n.1142-36C>A) c.1175-36C>A (n.1175-36C>A) c.1163-36C>A (n.1163-36C>A) c.1154-36C>A (n.1154-36C>A) c.1055-36C>A (n.1055-36C>A) c.1043-36C>A (n.1043-36C>A) c.440-36C>A (n.440-36C>A) | gnomAD v4 |
| 19 | g.18069750C>A | CA2583510318 | IL12RB1 | c.1022-37G>T (n.1022-37G>T) c.1142-37G>T (n.1142-37G>T) c.1175-37G>T (n.1175-37G>T) c.1163-37G>T (n.1163-37G>T) c.1154-37G>T (n.1154-37G>T) c.1055-37G>T (n.1055-37G>T) c.1043-37G>T (n.1043-37G>T) c.440-37G>T (n.440-37G>T) | gnomAD v4 |
| 19 | g.18069750C= | CA2326169932 | IL12RB1 | c.1022-37G= (n.1022-37G=) c.1142-37G= (n.1142-37G=) c.1175-37G= (n.1175-37G=) c.1163-37G= (n.1163-37G=) c.1154-37G= (n.1154-37G=) c.1055-37G= (n.1055-37G=) c.1043-37G= (n.1043-37G=) c.440-37G= (n.440-37G=) | |
| 19 | g.18069750C>T | CA632136861 | IL12RB1 | c.1022-37G>A (n.1022-37G>A) c.1142-37G>A (n.1142-37G>A) c.1175-37G>A (n.1175-37G>A) c.1163-37G>A (n.1163-37G>A) c.1154-37G>A (n.1154-37G>A) c.1055-37G>A (n.1055-37G>A) c.1043-37G>A (n.1043-37G>A) c.440-37G>A (n.440-37G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18069751del | CA2576772386 | IL12RB1 | c.1022-37del (n.1022-37del) c.1142-37del (n.1142-37del) c.1175-37del (n.1175-37del) c.1163-37del (n.1163-37del) c.1154-37del (n.1154-37del) c.1055-37del (n.1055-37del) c.1043-37del (n.1043-37del) c.440-37del (n.440-37del) | gnomAD v4 |
| 19 | g.18069751C>T | CA2583510319 | IL12RB1 | c.1022-38G>A (n.1022-38G>A) c.1142-38G>A (n.1142-38G>A) c.1175-38G>A (n.1175-38G>A) c.1163-38G>A (n.1163-38G>A) c.1154-38G>A (n.1154-38G>A) c.1055-38G>A (n.1055-38G>A) c.1043-38G>A (n.1043-38G>A) c.440-38G>A (n.440-38G>A) | gnomAD v4 |
| 19 | g.18069752A= | CA2326169933 | IL12RB1 | c.1022-39T= (n.1022-39T=) c.1142-39T= (n.1142-39T=) c.1175-39T= (n.1175-39T=) c.1163-39T= (n.1163-39T=) c.1154-39T= (n.1154-39T=) c.1055-39T= (n.1055-39T=) c.1043-39T= (n.1043-39T=) c.440-39T= (n.440-39T=) | |
| 19 | g.18069752A>G | CA9304987 | IL12RB1 | c.1022-39T>C (n.1022-39T>C) c.1142-39T>C (n.1142-39T>C) c.1175-39T>C (n.1175-39T>C) c.1163-39T>C (n.1163-39T>C) c.1154-39T>C (n.1154-39T>C) c.1055-39T>C (n.1055-39T>C) c.1043-39T>C (n.1043-39T>C) c.440-39T>C (n.440-39T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18069752A>T | CA632136862 | IL12RB1 | c.1022-39T>A (n.1022-39T>A) c.1142-39T>A (n.1142-39T>A) c.1175-39T>A (n.1175-39T>A) c.1163-39T>A (n.1163-39T>A) c.1154-39T>A (n.1154-39T>A) c.1055-39T>A (n.1055-39T>A) c.1043-39T>A (n.1043-39T>A) c.440-39T>A (n.440-39T>A) | dbSNP gnomAD v2 gnomAD v4 |