Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.27362784A>C | CA395298880 | IL4R | c.1432A>C (p.Ser478Arg) c.1387A>C (p.Ser463Arg) c.230-1319A>C (n.230-1319A>C) c.*1475A>C (n.*1475A>C) c.952A>C (p.Ser318Arg) c.541A>C (p.Ser181Arg) c.481A>C (p.Ser161Arg) c.1165A>C (p.Ser389Arg) c.1135A>C (p.Ser379Arg) c.1009A>C (p.Ser337Arg) c.*467A>C (n.*467A>C) | |
16 | g.27362784A>G | CA395298882 | IL4R | c.1432A>G (p.Ser478Gly) c.1387A>G (p.Ser463Gly) c.230-1319A>G (n.230-1319A>G) c.*1475A>G (n.*1475A>G) c.952A>G (p.Ser318Gly) c.541A>G (p.Ser181Gly) c.481A>G (p.Ser161Gly) c.1165A>G (p.Ser389Gly) c.1135A>G (p.Ser379Gly) c.1009A>G (p.Ser337Gly) c.*467A>G (n.*467A>G) | gnomAD v4 |
16 | g.27362784A>T | CA395298881 | IL4R | c.1432A>T (p.Ser478Cys) c.1387A>T (p.Ser463Cys) c.230-1319A>T (n.230-1319A>T) c.*1475A>T (n.*1475A>T) c.952A>T (p.Ser318Cys) c.541A>T (p.Ser181Cys) c.481A>T (p.Ser161Cys) c.1165A>T (p.Ser389Cys) c.1135A>T (p.Ser379Cys) c.1009A>T (p.Ser337Cys) c.*467A>T (n.*467A>T) | |
16 | g.27362785G>A | CA395298883 | IL4R | c.1433G>A (p.Ser478Asn) c.1388G>A (p.Ser463Asn) c.230-1318G>A (n.230-1318G>A) c.*1476G>A (n.*1476G>A) c.953G>A (p.Ser318Asn) c.542G>A (p.Ser181Asn) c.482G>A (p.Ser161Asn) c.1166G>A (p.Ser389Asn) c.1136G>A (p.Ser379Asn) c.1010G>A (p.Ser337Asn) c.*468G>A (n.*468G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362785G>C | CA395298884 | IL4R | c.1433G>C (p.Ser478Thr) c.1388G>C (p.Ser463Thr) c.230-1318G>C (n.230-1318G>C) c.*1476G>C (n.*1476G>C) c.953G>C (p.Ser318Thr) c.542G>C (p.Ser181Thr) c.482G>C (p.Ser161Thr) c.1166G>C (p.Ser389Thr) c.1136G>C (p.Ser379Thr) c.1010G>C (p.Ser337Thr) c.*468G>C (n.*468G>C) | gnomAD v4 |
16 | g.27362785G= | CA2215169777 | IL4R | c.1433G= (p.Ser478=) c.1388G= (p.Ser463=) c.230-1318G= (n.230-1318G=) c.*1476G= (n.*1476G=) c.953G= (p.Ser318=) c.542G= (p.Ser181=) c.482G= (p.Ser161=) c.1166G= (p.Ser389=) c.1136G= (p.Ser379=) c.1010G= (p.Ser337=) c.*468G= (n.*468G=) | |
16 | g.27362785G>T | CA395298885 | IL4R | c.1433G>T (p.Ser478Ile) c.1388G>T (p.Ser463Ile) c.230-1318G>T (n.230-1318G>T) c.*1476G>T (n.*1476G>T) c.953G>T (p.Ser318Ile) c.542G>T (p.Ser181Ile) c.482G>T (p.Ser161Ile) c.1166G>T (p.Ser389Ile) c.1136G>T (p.Ser379Ile) c.1010G>T (p.Ser337Ile) c.*468G>T (n.*468G>T) | |
16 | g.27362786T>A | CA395298886 | IL4R | c.1434T>A (p.Ser478Arg) c.1389T>A (p.Ser463Arg) c.230-1317T>A (n.230-1317T>A) c.*1477T>A (n.*1477T>A) c.954T>A (p.Ser318Arg) c.543T>A (p.Ser181Arg) c.483T>A (p.Ser161Arg) c.1167T>A (p.Ser389Arg) c.1137T>A (p.Ser379Arg) c.1011T>A (p.Ser337Arg) c.*469T>A (n.*469T>A) | |
16 | g.27362786T>C | CA494470667 | IL4R | c.1434T>C (p.Ser478=) c.1389T>C (p.Ser463=) c.230-1317T>C (n.230-1317T>C) c.*1477T>C (n.*1477T>C) c.954T>C (p.Ser318=) c.543T>C (p.Ser181=) c.483T>C (p.Ser161=) c.1167T>C (p.Ser389=) c.1137T>C (p.Ser379=) c.1011T>C (p.Ser337=) c.*469T>C (n.*469T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362786T>G | CA395298887 | IL4R | c.1434T>G (p.Ser478Arg) c.1389T>G (p.Ser463Arg) c.230-1317T>G (n.230-1317T>G) c.*1477T>G (n.*1477T>G) c.954T>G (p.Ser318Arg) c.543T>G (p.Ser181Arg) c.483T>G (p.Ser161Arg) c.1167T>G (p.Ser389Arg) c.1137T>G (p.Ser379Arg) c.1011T>G (p.Ser337Arg) c.*469T>G (n.*469T>G) | |
16 | g.27362786T= | CA2215169778 | IL4R | c.1434T= (p.Ser478=) c.1389T= (p.Ser463=) c.230-1317T= (n.230-1317T=) c.*1477T= (n.*1477T=) c.954T= (p.Ser318=) c.543T= (p.Ser181=) c.483T= (p.Ser161=) c.1167T= (p.Ser389=) c.1137T= (p.Ser379=) c.1011T= (p.Ser337=) c.*469T= (n.*469T=) | |
16 | g.27362787C>A | CA395298888 | IL4R | c.1435C>A (p.Pro479Thr) c.1390C>A (p.Pro464Thr) c.230-1316C>A (n.230-1316C>A) c.*1478C>A (n.*1478C>A) c.955C>A (p.Pro319Thr) c.544C>A (p.Pro182Thr) c.484C>A (p.Pro162Thr) c.1168C>A (p.Pro390Thr) c.1138C>A (p.Pro380Thr) c.1012C>A (p.Pro338Thr) c.*470C>A (n.*470C>A) | gnomAD v4 |
16 | g.27362787C= | CA2215169779 | IL4R | c.1435C= (p.Pro479=) c.1390C= (p.Pro464=) c.230-1316C= (n.230-1316C=) c.*1478C= (n.*1478C=) c.955C= (p.Pro319=) c.544C= (p.Pro182=) c.484C= (p.Pro162=) c.1168C= (p.Pro390=) c.1138C= (p.Pro380=) c.1012C= (p.Pro338=) c.*470C= (n.*470C=) | |
16 | g.27362787C>G | CA7974563 | IL4R | c.1435C>G (p.Pro479Ala) c.1390C>G (p.Pro464Ala) c.230-1316C>G (n.230-1316C>G) c.*1478C>G (n.*1478C>G) c.955C>G (p.Pro319Ala) c.544C>G (p.Pro182Ala) c.484C>G (p.Pro162Ala) c.1168C>G (p.Pro390Ala) c.1138C>G (p.Pro380Ala) c.1012C>G (p.Pro338Ala) c.*470C>G (n.*470C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362787C>T | CA395298889 | IL4R | c.1435C>T (p.Pro479Ser) c.1390C>T (p.Pro464Ser) c.230-1316C>T (n.230-1316C>T) c.*1478C>T (n.*1478C>T) c.955C>T (p.Pro319Ser) c.544C>T (p.Pro182Ser) c.484C>T (p.Pro162Ser) c.1168C>T (p.Pro390Ser) c.1138C>T (p.Pro380Ser) c.1012C>T (p.Pro338Ser) c.*470C>T (n.*470C>T) | |
16 | g.27362788C>A | CA395298890 | IL4R | c.1436C>A (p.Pro479Gln) c.1391C>A (p.Pro464Gln) c.230-1315C>A (n.230-1315C>A) c.*1479C>A (n.*1479C>A) c.956C>A (p.Pro319Gln) c.545C>A (p.Pro182Gln) c.485C>A (p.Pro162Gln) c.1169C>A (p.Pro390Gln) c.1139C>A (p.Pro380Gln) c.1013C>A (p.Pro338Gln) c.*471C>A (n.*471C>A) | |
16 | g.27362788C= | CA2215169780 | IL4R | c.1436C= (p.Pro479=) c.1391C= (p.Pro464=) c.230-1315C= (n.230-1315C=) c.*1479C= (n.*1479C=) c.956C= (p.Pro319=) c.545C= (p.Pro182=) c.485C= (p.Pro162=) c.1169C= (p.Pro390=) c.1139C= (p.Pro380=) c.1013C= (p.Pro338=) c.*471C= (n.*471C=) | |
16 | g.27362788C>G | CA395298891 | IL4R | c.1436C>G (p.Pro479Arg) c.1391C>G (p.Pro464Arg) c.230-1315C>G (n.230-1315C>G) c.*1479C>G (n.*1479C>G) c.956C>G (p.Pro319Arg) c.545C>G (p.Pro182Arg) c.485C>G (p.Pro162Arg) c.1169C>G (p.Pro390Arg) c.1139C>G (p.Pro380Arg) c.1013C>G (p.Pro338Arg) c.*471C>G (n.*471C>G) | |
16 | g.27362788C>T | CA395298892 | IL4R | c.1436C>T (p.Pro479Leu) c.1391C>T (p.Pro464Leu) c.230-1315C>T (n.230-1315C>T) c.*1479C>T (n.*1479C>T) c.956C>T (p.Pro319Leu) c.545C>T (p.Pro182Leu) c.485C>T (p.Pro162Leu) c.1169C>T (p.Pro390Leu) c.1139C>T (p.Pro380Leu) c.1013C>T (p.Pro338Leu) c.*471C>T (n.*471C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362789A= | CA2215169782 | IL4R | c.1437A= (p.Pro479=) c.1392A= (p.Pro464=) c.230-1314A= (n.230-1314A=) c.*1480A= (n.*1480A=) c.957A= (p.Pro319=) c.546A= (p.Pro182=) c.486A= (p.Pro162=) c.1170A= (p.Pro390=) c.1140A= (p.Pro380=) c.1014A= (p.Pro338=) c.*472A= (n.*472A=) | |
16 | g.27362789A>C | CA494470675 | IL4R | c.1437A>C (p.Pro479=) c.1392A>C (p.Pro464=) c.230-1314A>C (n.230-1314A>C) c.*1480A>C (n.*1480A>C) c.957A>C (p.Pro319=) c.546A>C (p.Pro182=) c.486A>C (p.Pro162=) c.1170A>C (p.Pro390=) c.1140A>C (p.Pro380=) c.1014A>C (p.Pro338=) c.*472A>C (n.*472A>C) | |
16 | g.27362789A>G | CA7974564 | IL4R | c.1437A>G (p.Pro479=) c.1392A>G (p.Pro464=) c.230-1314A>G (n.230-1314A>G) c.*1480A>G (n.*1480A>G) c.957A>G (p.Pro319=) c.546A>G (p.Pro182=) c.486A>G (p.Pro162=) c.1170A>G (p.Pro390=) c.1140A>G (p.Pro380=) c.1014A>G (p.Pro338=) c.*472A>G (n.*472A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362789A>T | CA494470678 | IL4R | c.1437A>T (p.Pro479=) c.1392A>T (p.Pro464=) c.230-1314A>T (n.230-1314A>T) c.*1480A>T (n.*1480A>T) c.957A>T (p.Pro319=) c.546A>T (p.Pro182=) c.486A>T (p.Pro162=) c.1170A>T (p.Pro390=) c.1140A>T (p.Pro380=) c.1014A>T (p.Pro338=) c.*472A>T (n.*472A>T) | |
16 | g.27362790G>A | CA395298895 | IL4R | c.1438G>A (p.Asp480Asn) c.1393G>A (p.Asp465Asn) c.230-1313G>A (n.230-1313G>A) c.*1481G>A (n.*1481G>A) c.958G>A (p.Asp320Asn) c.547G>A (p.Asp183Asn) c.487G>A (p.Asp163Asn) c.1171G>A (p.Asp391Asn) c.1141G>A (p.Asp381Asn) c.1015G>A (p.Asp339Asn) c.*473G>A (n.*473G>A) | |
16 | g.27362790G>C | CA395298894 | IL4R | c.1438G>C (p.Asp480His) c.1393G>C (p.Asp465His) c.230-1313G>C (n.230-1313G>C) c.*1481G>C (n.*1481G>C) c.958G>C (p.Asp320His) c.547G>C (p.Asp183His) c.487G>C (p.Asp163His) c.1171G>C (p.Asp391His) c.1141G>C (p.Asp381His) c.1015G>C (p.Asp339His) c.*473G>C (n.*473G>C) | |
16 | g.27362790G>T | CA395298893 | IL4R | c.1438G>T (p.Asp480Tyr) c.1393G>T (p.Asp465Tyr) c.230-1313G>T (n.230-1313G>T) c.*1481G>T (n.*1481G>T) c.958G>T (p.Asp320Tyr) c.547G>T (p.Asp183Tyr) c.487G>T (p.Asp163Tyr) c.1171G>T (p.Asp391Tyr) c.1141G>T (p.Asp381Tyr) c.1015G>T (p.Asp339Tyr) c.*473G>T (n.*473G>T) | COSMIC |
16 | g.27362791A= | CA2215169786 | IL4R | c.1439A= (p.Asp480=) c.1394A= (p.Asp465=) c.230-1312A= (n.230-1312A=) c.*1482A= (n.*1482A=) c.959A= (p.Asp320=) c.548A= (p.Asp183=) c.488A= (p.Asp163=) c.1172A= (p.Asp391=) c.1142A= (p.Asp381=) c.1016A= (p.Asp339=) c.*474A= (n.*474A=) | |
16 | g.27362791A>C | CA395298896 | IL4R | c.1439A>C (p.Asp480Ala) c.1394A>C (p.Asp465Ala) c.230-1312A>C (n.230-1312A>C) c.*1482A>C (n.*1482A>C) c.959A>C (p.Asp320Ala) c.548A>C (p.Asp183Ala) c.488A>C (p.Asp163Ala) c.1172A>C (p.Asp391Ala) c.1142A>C (p.Asp381Ala) c.1016A>C (p.Asp339Ala) c.*474A>C (n.*474A>C) | |
16 | g.27362791A>G | CA279686881 | IL4R | c.1439A>G (p.Asp480Gly) c.1394A>G (p.Asp465Gly) c.230-1312A>G (n.230-1312A>G) c.*1482A>G (n.*1482A>G) c.959A>G (p.Asp320Gly) c.548A>G (p.Asp183Gly) c.488A>G (p.Asp163Gly) c.1172A>G (p.Asp391Gly) c.1142A>G (p.Asp381Gly) c.1016A>G (p.Asp339Gly) c.*474A>G (n.*474A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362791A>T | CA395298897 | IL4R | c.1439A>T (p.Asp480Val) c.1394A>T (p.Asp465Val) c.230-1312A>T (n.230-1312A>T) c.*1482A>T (n.*1482A>T) c.959A>T (p.Asp320Val) c.548A>T (p.Asp183Val) c.488A>T (p.Asp163Val) c.1172A>T (p.Asp391Val) c.1142A>T (p.Asp381Val) c.1016A>T (p.Asp339Val) c.*474A>T (n.*474A>T) | |
16 | g.27362792C>A | CA395298898 | IL4R | c.1440C>A (p.Asp480Glu) c.1395C>A (p.Asp465Glu) c.230-1311C>A (n.230-1311C>A) c.*1483C>A (n.*1483C>A) c.960C>A (p.Asp320Glu) c.549C>A (p.Asp183Glu) c.489C>A (p.Asp163Glu) c.1173C>A (p.Asp391Glu) c.1143C>A (p.Asp381Glu) c.1017C>A (p.Asp339Glu) c.*475C>A (n.*475C>A) | |
16 | g.27362792C>G | CA395298899 | IL4R | c.1440C>G (p.Asp480Glu) c.1395C>G (p.Asp465Glu) c.230-1311C>G (n.230-1311C>G) c.*1483C>G (n.*1483C>G) c.960C>G (p.Asp320Glu) c.549C>G (p.Asp183Glu) c.489C>G (p.Asp163Glu) c.1173C>G (p.Asp391Glu) c.1143C>G (p.Asp381Glu) c.1017C>G (p.Asp339Glu) c.*475C>G (n.*475C>G) | |
16 | g.27362792C>T | CA494470682 | IL4R | c.1440C>T (p.Asp480=) c.1395C>T (p.Asp465=) c.230-1311C>T (n.230-1311C>T) c.*1483C>T (n.*1483C>T) c.960C>T (p.Asp320=) c.549C>T (p.Asp183=) c.489C>T (p.Asp163=) c.1173C>T (p.Asp391=) c.1143C>T (p.Asp381=) c.1017C>T (p.Asp339=) c.*475C>T (n.*475C>T) | |
16 | g.27362793A>C | CA395298900 | IL4R | c.1441A>C (p.Asn481His) c.1396A>C (p.Asn466His) c.230-1310A>C (n.230-1310A>C) c.*1484A>C (n.*1484A>C) c.961A>C (p.Asn321His) c.550A>C (p.Asn184His) c.490A>C (p.Asn164His) c.1174A>C (p.Asn392His) c.1144A>C (p.Asn382His) c.1018A>C (p.Asn340His) c.*476A>C (n.*476A>C) | |
16 | g.27362793A>G | CA395298901 | IL4R | c.1441A>G (p.Asn481Asp) c.1396A>G (p.Asn466Asp) c.230-1310A>G (n.230-1310A>G) c.*1484A>G (n.*1484A>G) c.961A>G (p.Asn321Asp) c.550A>G (p.Asn184Asp) c.490A>G (p.Asn164Asp) c.1174A>G (p.Asn392Asp) c.1144A>G (p.Asn382Asp) c.1018A>G (p.Asn340Asp) c.*476A>G (n.*476A>G) | |
16 | g.27362793A>T | CA395298902 | IL4R | c.1441A>T (p.Asn481Tyr) c.1396A>T (p.Asn466Tyr) c.230-1310A>T (n.230-1310A>T) c.*1484A>T (n.*1484A>T) c.961A>T (p.Asn321Tyr) c.550A>T (p.Asn184Tyr) c.490A>T (p.Asn164Tyr) c.1174A>T (p.Asn392Tyr) c.1144A>T (p.Asn382Tyr) c.1018A>T (p.Asn340Tyr) c.*476A>T (n.*476A>T) | |
16 | g.27362794A>C | CA395298903 | IL4R | c.1442A>C (p.Asn481Thr) c.1397A>C (p.Asn466Thr) c.230-1309A>C (n.230-1309A>C) c.*1485A>C (n.*1485A>C) c.962A>C (p.Asn321Thr) c.551A>C (p.Asn184Thr) c.491A>C (p.Asn164Thr) c.1175A>C (p.Asn392Thr) c.1145A>C (p.Asn382Thr) c.1019A>C (p.Asn340Thr) c.*477A>C (n.*477A>C) | |
16 | g.27362794A>G | CA395298904 | IL4R | c.1442A>G (p.Asn481Ser) c.1397A>G (p.Asn466Ser) c.230-1309A>G (n.230-1309A>G) c.*1485A>G (n.*1485A>G) c.962A>G (p.Asn321Ser) c.551A>G (p.Asn184Ser) c.491A>G (p.Asn164Ser) c.1175A>G (p.Asn392Ser) c.1145A>G (p.Asn382Ser) c.1019A>G (p.Asn340Ser) c.*477A>G (n.*477A>G) | |
16 | g.27362794A>T | CA395298905 | IL4R | c.1442A>T (p.Asn481Ile) c.1397A>T (p.Asn466Ile) c.230-1309A>T (n.230-1309A>T) c.*1485A>T (n.*1485A>T) c.962A>T (p.Asn321Ile) c.551A>T (p.Asn184Ile) c.491A>T (p.Asn164Ile) c.1175A>T (p.Asn392Ile) c.1145A>T (p.Asn382Ile) c.1019A>T (p.Asn340Ile) c.*477A>T (n.*477A>T) | |
16 | g.27362795C>A | CA395298906 | IL4R | c.1443C>A (p.Asn481Lys) c.1398C>A (p.Asn466Lys) c.230-1308C>A (n.230-1308C>A) c.*1486C>A (n.*1486C>A) c.963C>A (p.Asn321Lys) c.552C>A (p.Asn184Lys) c.492C>A (p.Asn164Lys) c.1176C>A (p.Asn392Lys) c.1146C>A (p.Asn382Lys) c.1020C>A (p.Asn340Lys) c.*478C>A (n.*478C>A) | |
16 | g.27362795C= | CA2215169789 | IL4R | c.1443C= (p.Asn481=) c.1398C= (p.Asn466=) c.230-1308C= (n.230-1308C=) c.*1486C= (n.*1486C=) c.963C= (p.Asn321=) c.552C= (p.Asn184=) c.492C= (p.Asn164=) c.1176C= (p.Asn392=) c.1146C= (p.Asn382=) c.1020C= (p.Asn340=) c.*478C= (n.*478C=) | |
16 | g.27362795C>G | CA395298907 | IL4R | c.1443C>G (p.Asn481Lys) c.1398C>G (p.Asn466Lys) c.230-1308C>G (n.230-1308C>G) c.*1486C>G (n.*1486C>G) c.963C>G (p.Asn321Lys) c.552C>G (p.Asn184Lys) c.492C>G (p.Asn164Lys) c.1176C>G (p.Asn392Lys) c.1146C>G (p.Asn382Lys) c.1020C>G (p.Asn340Lys) c.*478C>G (n.*478C>G) | |
16 | g.27362795C>T | CA494470687 | IL4R | c.1443C>T (p.Asn481=) c.1398C>T (p.Asn466=) c.230-1308C>T (n.230-1308C>T) c.*1486C>T (n.*1486C>T) c.963C>T (p.Asn321=) c.552C>T (p.Asn184=) c.492C>T (p.Asn164=) c.1176C>T (p.Asn392=) c.1146C>T (p.Asn382=) c.1020C>T (p.Asn340=) c.*478C>T (n.*478C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362796C>A | CA395298908 | IL4R | c.1444C>A (p.Leu482Met) c.1399C>A (p.Leu467Met) c.230-1307C>A (n.230-1307C>A) c.*1487C>A (n.*1487C>A) c.964C>A (p.Leu322Met) c.553C>A (p.Leu185Met) c.493C>A (p.Leu165Met) c.1177C>A (p.Leu393Met) c.1147C>A (p.Leu383Met) c.1021C>A (p.Leu341Met) c.*479C>A (n.*479C>A) | |
16 | g.27362796C= | CA2215169792 | IL4R | c.1444C= (p.Leu482=) c.1399C= (p.Leu467=) c.230-1307C= (n.230-1307C=) c.*1487C= (n.*1487C=) c.964C= (p.Leu322=) c.553C= (p.Leu185=) c.493C= (p.Leu165=) c.1177C= (p.Leu393=) c.1147C= (p.Leu383=) c.1021C= (p.Leu341=) c.*479C= (n.*479C=) | |
16 | g.27362796C>G | CA395298909 | IL4R | c.1444C>G (p.Leu482Val) c.1399C>G (p.Leu467Val) c.230-1307C>G (n.230-1307C>G) c.*1487C>G (n.*1487C>G) c.964C>G (p.Leu322Val) c.553C>G (p.Leu185Val) c.493C>G (p.Leu165Val) c.1177C>G (p.Leu393Val) c.1147C>G (p.Leu383Val) c.1021C>G (p.Leu341Val) c.*479C>G (n.*479C>G) | gnomAD v4 |
16 | g.27362796C>T | CA494470689 | IL4R | c.1444C>T (p.Leu482=) c.1399C>T (p.Leu467=) c.230-1307C>T (n.230-1307C>T) c.*1487C>T (n.*1487C>T) c.964C>T (p.Leu322=) c.553C>T (p.Leu185=) c.493C>T (p.Leu165=) c.1177C>T (p.Leu393=) c.1147C>T (p.Leu383=) c.1021C>T (p.Leu341=) c.*479C>T (n.*479C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362797T>A | CA395298910 | IL4R | c.1445T>A (p.Leu482Gln) c.1400T>A (p.Leu467Gln) c.230-1306T>A (n.230-1306T>A) c.*1488T>A (n.*1488T>A) c.965T>A (p.Leu322Gln) c.554T>A (p.Leu185Gln) c.494T>A (p.Leu165Gln) c.1178T>A (p.Leu393Gln) c.1148T>A (p.Leu383Gln) c.1022T>A (p.Leu341Gln) c.*480T>A (n.*480T>A) | dbSNP gnomAD v4 |
16 | g.27362797T>C | CA395298912 | IL4R | c.1445T>C (p.Leu482Pro) c.1400T>C (p.Leu467Pro) c.230-1306T>C (n.230-1306T>C) c.*1488T>C (n.*1488T>C) c.965T>C (p.Leu322Pro) c.554T>C (p.Leu185Pro) c.494T>C (p.Leu165Pro) c.1178T>C (p.Leu393Pro) c.1148T>C (p.Leu383Pro) c.1022T>C (p.Leu341Pro) c.*480T>C (n.*480T>C) | |
16 | g.27362797T>G | CA395298911 | IL4R | c.1445T>G (p.Leu482Arg) c.1400T>G (p.Leu467Arg) c.230-1306T>G (n.230-1306T>G) c.*1488T>G (n.*1488T>G) c.965T>G (p.Leu322Arg) c.554T>G (p.Leu185Arg) c.494T>G (p.Leu165Arg) c.1178T>G (p.Leu393Arg) c.1148T>G (p.Leu383Arg) c.1022T>G (p.Leu341Arg) c.*480T>G (n.*480T>G) | |
16 | g.27362797T= | CA2215169795 | IL4R | c.1445T= (p.Leu482=) c.1400T= (p.Leu467=) c.230-1306T= (n.230-1306T=) c.*1488T= (n.*1488T=) c.965T= (p.Leu322=) c.554T= (p.Leu185=) c.494T= (p.Leu165=) c.1178T= (p.Leu393=) c.1148T= (p.Leu383=) c.1022T= (p.Leu341=) c.*480T= (n.*480T=) | |
16 | g.27362798G>A | CA494470691 | IL4R | c.1446G>A (p.Leu482=) c.1401G>A (p.Leu467=) c.230-1305G>A (n.230-1305G>A) c.*1489G>A (n.*1489G>A) c.966G>A (p.Leu322=) c.555G>A (p.Leu185=) c.495G>A (p.Leu165=) c.1179G>A (p.Leu393=) c.1149G>A (p.Leu383=) c.1023G>A (p.Leu341=) c.*481G>A (n.*481G>A) | |
16 | g.27362798G>C | CA494470692 | IL4R | c.1446G>C (p.Leu482=) c.1401G>C (p.Leu467=) c.230-1305G>C (n.230-1305G>C) c.*1489G>C (n.*1489G>C) c.966G>C (p.Leu322=) c.555G>C (p.Leu185=) c.495G>C (p.Leu165=) c.1179G>C (p.Leu393=) c.1149G>C (p.Leu383=) c.1023G>C (p.Leu341=) c.*481G>C (n.*481G>C) | |
16 | g.27362798G>T | CA494470693 | IL4R | c.1446G>T (p.Leu482=) c.1401G>T (p.Leu467=) c.230-1305G>T (n.230-1305G>T) c.*1489G>T (n.*1489G>T) c.966G>T (p.Leu322=) c.555G>T (p.Leu185=) c.495G>T (p.Leu165=) c.1179G>T (p.Leu393=) c.1149G>T (p.Leu383=) c.1023G>T (p.Leu341=) c.*481G>T (n.*481G>T) | |
16 | g.27362799A= | CA2215169796 | IL4R | c.1447A= (p.Thr483=) c.1402A= (p.Thr468=) c.230-1304A= (n.230-1304A=) c.*1490A= (n.*1490A=) c.967A= (p.Thr323=) c.556A= (p.Thr186=) c.496A= (p.Thr166=) c.1180A= (p.Thr394=) c.1150A= (p.Thr384=) c.1024A= (p.Thr342=) c.*482A= (n.*482A=) | |
16 | g.27362799A>C | CA395298913 | IL4R | c.1447A>C (p.Thr483Pro) c.1402A>C (p.Thr468Pro) c.230-1304A>C (n.230-1304A>C) c.*1490A>C (n.*1490A>C) c.967A>C (p.Thr323Pro) c.556A>C (p.Thr186Pro) c.496A>C (p.Thr166Pro) c.1180A>C (p.Thr394Pro) c.1150A>C (p.Thr384Pro) c.1024A>C (p.Thr342Pro) c.*482A>C (n.*482A>C) | |
16 | g.27362799A>G | CA395298914 | IL4R | c.1447A>G (p.Thr483Ala) c.1402A>G (p.Thr468Ala) c.230-1304A>G (n.230-1304A>G) c.*1490A>G (n.*1490A>G) c.967A>G (p.Thr323Ala) c.556A>G (p.Thr186Ala) c.496A>G (p.Thr166Ala) c.1180A>G (p.Thr394Ala) c.1150A>G (p.Thr384Ala) c.1024A>G (p.Thr342Ala) c.*482A>G (n.*482A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362799A>T | CA395298915 | IL4R | c.1447A>T (p.Thr483Ser) c.1402A>T (p.Thr468Ser) c.230-1304A>T (n.230-1304A>T) c.*1490A>T (n.*1490A>T) c.967A>T (p.Thr323Ser) c.556A>T (p.Thr186Ser) c.496A>T (p.Thr166Ser) c.1180A>T (p.Thr394Ser) c.1150A>T (p.Thr384Ser) c.1024A>T (p.Thr342Ser) c.*482A>T (n.*482A>T) | |
16 | g.27362800C>A | CA395298916 | IL4R | c.1448C>A (p.Thr483Asn) c.1403C>A (p.Thr468Asn) c.230-1303C>A (n.230-1303C>A) c.*1491C>A (n.*1491C>A) c.968C>A (p.Thr323Asn) c.557C>A (p.Thr186Asn) c.497C>A (p.Thr166Asn) c.1181C>A (p.Thr394Asn) c.1151C>A (p.Thr384Asn) c.1025C>A (p.Thr342Asn) c.*483C>A (n.*483C>A) | |
16 | g.27362800C>G | CA395298917 | IL4R | c.1448C>G (p.Thr483Ser) c.1403C>G (p.Thr468Ser) c.230-1303C>G (n.230-1303C>G) c.*1491C>G (n.*1491C>G) c.968C>G (p.Thr323Ser) c.557C>G (p.Thr186Ser) c.497C>G (p.Thr166Ser) c.1181C>G (p.Thr394Ser) c.1151C>G (p.Thr384Ser) c.1025C>G (p.Thr342Ser) c.*483C>G (n.*483C>G) | |
16 | g.27362800C>T | CA395298918 | IL4R | c.1448C>T (p.Thr483Ile) c.1403C>T (p.Thr468Ile) c.230-1303C>T (n.230-1303C>T) c.*1491C>T (n.*1491C>T) c.968C>T (p.Thr323Ile) c.557C>T (p.Thr186Ile) c.497C>T (p.Thr166Ile) c.1181C>T (p.Thr394Ile) c.1151C>T (p.Thr384Ile) c.1025C>T (p.Thr342Ile) c.*483C>T (n.*483C>T) | |
16 | g.27362801T>A | CA494470705 | IL4R | c.1449T>A (p.Thr483=) c.1404T>A (p.Thr468=) c.230-1302T>A (n.230-1302T>A) c.*1492T>A (n.*1492T>A) c.969T>A (p.Thr323=) c.558T>A (p.Thr186=) c.498T>A (p.Thr166=) c.1182T>A (p.Thr394=) c.1152T>A (p.Thr384=) c.1026T>A (p.Thr342=) c.*484T>A (n.*484T>A) | |
16 | g.27362801T>C | CA494470704 | IL4R | c.1449T>C (p.Thr483=) c.1404T>C (p.Thr468=) c.230-1302T>C (n.230-1302T>C) c.*1492T>C (n.*1492T>C) c.969T>C (p.Thr323=) c.558T>C (p.Thr186=) c.498T>C (p.Thr166=) c.1182T>C (p.Thr394=) c.1152T>C (p.Thr384=) c.1026T>C (p.Thr342=) c.*484T>C (n.*484T>C) | gnomAD v4 |
16 | g.27362801T>G | CA494470703 | IL4R | c.1449T>G (p.Thr483=) c.1404T>G (p.Thr468=) c.230-1302T>G (n.230-1302T>G) c.*1492T>G (n.*1492T>G) c.969T>G (p.Thr323=) c.558T>G (p.Thr186=) c.498T>G (p.Thr166=) c.1182T>G (p.Thr394=) c.1152T>G (p.Thr384=) c.1026T>G (p.Thr342=) c.*484T>G (n.*484T>G) | COSMIC |
16 | g.27362802T>A | CA395298920 | IL4R | c.1450T>A (p.Cys484Ser) c.1405T>A (p.Cys469Ser) c.230-1301T>A (n.230-1301T>A) c.*1493T>A (n.*1493T>A) c.970T>A (p.Cys324Ser) c.559T>A (p.Cys187Ser) c.499T>A (p.Cys167Ser) c.1183T>A (p.Cys395Ser) c.1153T>A (p.Cys385Ser) c.1027T>A (p.Cys343Ser) c.*485T>A (n.*485T>A) | |
16 | g.27362802T>C | CA7974565 | IL4R | c.1450T>C (p.Cys484Arg) c.1405T>C (p.Cys469Arg) c.230-1301T>C (n.230-1301T>C) c.*1493T>C (n.*1493T>C) c.970T>C (p.Cys324Arg) c.559T>C (p.Cys187Arg) c.499T>C (p.Cys167Arg) c.1183T>C (p.Cys395Arg) c.1153T>C (p.Cys385Arg) c.1027T>C (p.Cys343Arg) c.*485T>C (n.*485T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362802T>G | CA395298919 | IL4R | c.1450T>G (p.Cys484Gly) c.1405T>G (p.Cys469Gly) c.230-1301T>G (n.230-1301T>G) c.*1493T>G (n.*1493T>G) c.970T>G (p.Cys324Gly) c.559T>G (p.Cys187Gly) c.499T>G (p.Cys167Gly) c.1183T>G (p.Cys395Gly) c.1153T>G (p.Cys385Gly) c.1027T>G (p.Cys343Gly) c.*485T>G (n.*485T>G) | |
16 | g.27362802T= | CA2215169797 | IL4R | c.1450T= (p.Cys484=) c.1405T= (p.Cys469=) c.230-1301T= (n.230-1301T=) c.*1493T= (n.*1493T=) c.970T= (p.Cys324=) c.559T= (p.Cys187=) c.499T= (p.Cys167=) c.1183T= (p.Cys395=) c.1153T= (p.Cys385=) c.1027T= (p.Cys343=) c.*485T= (n.*485T=) | |
16 | g.27362803G>A | CA395298921 | IL4R | c.1451G>A (p.Cys484Tyr) c.1406G>A (p.Cys469Tyr) c.230-1300G>A (n.230-1300G>A) c.*1494G>A (n.*1494G>A) c.971G>A (p.Cys324Tyr) c.560G>A (p.Cys187Tyr) c.500G>A (p.Cys167Tyr) c.1184G>A (p.Cys395Tyr) c.1154G>A (p.Cys385Tyr) c.1028G>A (p.Cys343Tyr) c.*486G>A (n.*486G>A) | |
16 | g.27362803G>C | CA395298922 | IL4R | c.1451G>C (p.Cys484Ser) c.1406G>C (p.Cys469Ser) c.230-1300G>C (n.230-1300G>C) c.*1494G>C (n.*1494G>C) c.971G>C (p.Cys324Ser) c.560G>C (p.Cys187Ser) c.500G>C (p.Cys167Ser) c.1184G>C (p.Cys395Ser) c.1154G>C (p.Cys385Ser) c.1028G>C (p.Cys343Ser) c.*486G>C (n.*486G>C) | |
16 | g.27362803G= | CA2215169798 | IL4R | c.1451G= (p.Cys484=) c.1406G= (p.Cys469=) c.230-1300G= (n.230-1300G=) c.*1494G= (n.*1494G=) c.971G= (p.Cys324=) c.560G= (p.Cys187=) c.500G= (p.Cys167=) c.1184G= (p.Cys395=) c.1154G= (p.Cys385=) c.1028G= (p.Cys343=) c.*486G= (n.*486G=) | |
16 | g.27362803G>T | CA7974566 | IL4R | c.1451G>T (p.Cys484Phe) c.1406G>T (p.Cys469Phe) c.230-1300G>T (n.230-1300G>T) c.*1494G>T (n.*1494G>T) c.971G>T (p.Cys324Phe) c.560G>T (p.Cys187Phe) c.500G>T (p.Cys167Phe) c.1184G>T (p.Cys395Phe) c.1154G>T (p.Cys385Phe) c.1028G>T (p.Cys343Phe) c.*486G>T (n.*486G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362804C>A | CA395298923 | IL4R | c.1452C>A (p.Cys484Ter) c.1407C>A (p.Cys469Ter) c.230-1299C>A (n.230-1299C>A) c.*1495C>A (n.*1495C>A) c.972C>A (p.Cys324Ter) c.561C>A (p.Cys187Ter) c.501C>A (p.Cys167Ter) c.1185C>A (p.Cys395Ter) c.1155C>A (p.Cys385Ter) c.1029C>A (p.Cys343Ter) c.*487C>A (n.*487C>A) | |
16 | g.27362804C>G | CA395298924 | IL4R | c.1452C>G (p.Cys484Trp) c.1407C>G (p.Cys469Trp) c.230-1299C>G (n.230-1299C>G) c.*1495C>G (n.*1495C>G) c.972C>G (p.Cys324Trp) c.561C>G (p.Cys187Trp) c.501C>G (p.Cys167Trp) c.1185C>G (p.Cys395Trp) c.1155C>G (p.Cys385Trp) c.1029C>G (p.Cys343Trp) c.*487C>G (n.*487C>G) | gnomAD v4 |
16 | g.27362804C>T | CA494470709 | IL4R | c.1452C>T (p.Cys484=) c.1407C>T (p.Cys469=) c.230-1299C>T (n.230-1299C>T) c.*1495C>T (n.*1495C>T) c.972C>T (p.Cys324=) c.561C>T (p.Cys187=) c.501C>T (p.Cys167=) c.1185C>T (p.Cys395=) c.1155C>T (p.Cys385=) c.1029C>T (p.Cys343=) c.*487C>T (n.*487C>T) | |
16 | g.27362805A= | CA2215169800 | IL4R | c.1453A= (p.Thr485=) c.1408A= (p.Thr470=) c.230-1298A= (n.230-1298A=) c.*1496A= (n.*1496A=) c.973A= (p.Thr325=) c.562A= (p.Thr188=) c.502A= (p.Thr168=) c.1186A= (p.Thr396=) c.1156A= (p.Thr386=) c.1030A= (p.Thr344=) c.*488A= (n.*488A=) | |
16 | g.27362805A>C | CA395298925 | IL4R | c.1453A>C (p.Thr485Pro) c.1408A>C (p.Thr470Pro) c.230-1298A>C (n.230-1298A>C) c.*1496A>C (n.*1496A>C) c.973A>C (p.Thr325Pro) c.562A>C (p.Thr188Pro) c.502A>C (p.Thr168Pro) c.1186A>C (p.Thr396Pro) c.1156A>C (p.Thr386Pro) c.1030A>C (p.Thr344Pro) c.*488A>C (n.*488A>C) | |
16 | g.27362805A>G | CA395298927 | IL4R | c.1453A>G (p.Thr485Ala) c.1408A>G (p.Thr470Ala) c.230-1298A>G (n.230-1298A>G) c.*1496A>G (n.*1496A>G) c.973A>G (p.Thr325Ala) c.562A>G (p.Thr188Ala) c.502A>G (p.Thr168Ala) c.1186A>G (p.Thr396Ala) c.1156A>G (p.Thr386Ala) c.1030A>G (p.Thr344Ala) c.*488A>G (n.*488A>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362805A>T | CA395298926 | IL4R | c.1453A>T (p.Thr485Ser) c.1408A>T (p.Thr470Ser) c.230-1298A>T (n.230-1298A>T) c.*1496A>T (n.*1496A>T) c.973A>T (p.Thr325Ser) c.562A>T (p.Thr188Ser) c.502A>T (p.Thr168Ser) c.1186A>T (p.Thr396Ser) c.1156A>T (p.Thr386Ser) c.1030A>T (p.Thr344Ser) c.*488A>T (n.*488A>T) | |
16 | g.27362806C>A | CA395298928 | IL4R | c.1454C>A (p.Thr485Lys) c.1409C>A (p.Thr470Lys) c.230-1297C>A (n.230-1297C>A) c.*1497C>A (n.*1497C>A) c.974C>A (p.Thr325Lys) c.563C>A (p.Thr188Lys) c.503C>A (p.Thr168Lys) c.1187C>A (p.Thr396Lys) c.1157C>A (p.Thr386Lys) c.1031C>A (p.Thr344Lys) c.*489C>A (n.*489C>A) | gnomAD v4 |
16 | g.27362806C>G | CA395298929 | IL4R | c.1454C>G (p.Thr485Arg) c.1409C>G (p.Thr470Arg) c.230-1297C>G (n.230-1297C>G) c.*1497C>G (n.*1497C>G) c.974C>G (p.Thr325Arg) c.563C>G (p.Thr188Arg) c.503C>G (p.Thr168Arg) c.1187C>G (p.Thr396Arg) c.1157C>G (p.Thr386Arg) c.1031C>G (p.Thr344Arg) c.*489C>G (n.*489C>G) | gnomAD v4 |
16 | g.27362806C>T | CA395298930 | IL4R | c.1454C>T (p.Thr485Ile) c.1409C>T (p.Thr470Ile) c.230-1297C>T (n.230-1297C>T) c.*1497C>T (n.*1497C>T) c.974C>T (p.Thr325Ile) c.563C>T (p.Thr188Ile) c.503C>T (p.Thr168Ile) c.1187C>T (p.Thr396Ile) c.1157C>T (p.Thr386Ile) c.1031C>T (p.Thr344Ile) c.*489C>T (n.*489C>T) | |
16 | g.27362807A= | CA2215169804 | IL4R | c.1455A= (p.Thr485=) c.1410A= (p.Thr470=) c.230-1296A= (n.230-1296A=) c.*1498A= (n.*1498A=) c.975A= (p.Thr325=) c.564A= (p.Thr188=) c.504A= (p.Thr168=) c.1188A= (p.Thr396=) c.1158A= (p.Thr386=) c.1032A= (p.Thr344=) c.*490A= (n.*490A=) | |
16 | g.27362807A>C | CA494470715 | IL4R | c.1455A>C (p.Thr485=) c.1410A>C (p.Thr470=) c.230-1296A>C (n.230-1296A>C) c.*1498A>C (n.*1498A>C) c.975A>C (p.Thr325=) c.564A>C (p.Thr188=) c.504A>C (p.Thr168=) c.1188A>C (p.Thr396=) c.1158A>C (p.Thr386=) c.1032A>C (p.Thr344=) c.*490A>C (n.*490A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362807A>G | CA494470716 | IL4R | c.1455A>G (p.Thr485=) c.1410A>G (p.Thr470=) c.230-1296A>G (n.230-1296A>G) c.*1498A>G (n.*1498A>G) c.975A>G (p.Thr325=) c.564A>G (p.Thr188=) c.504A>G (p.Thr168=) c.1188A>G (p.Thr396=) c.1158A>G (p.Thr386=) c.1032A>G (p.Thr344=) c.*490A>G (n.*490A>G) | |
16 | g.27362807A>T | CA494470718 | IL4R | c.1455A>T (p.Thr485=) c.1410A>T (p.Thr470=) c.230-1296A>T (n.230-1296A>T) c.*1498A>T (n.*1498A>T) c.975A>T (p.Thr325=) c.564A>T (p.Thr188=) c.504A>T (p.Thr168=) c.1188A>T (p.Thr396=) c.1158A>T (p.Thr386=) c.1032A>T (p.Thr344=) c.*490A>T (n.*490A>T) | |
16 | g.27362808G>A | CA395298931 | IL4R | c.1456G>A (p.Glu486Lys) c.1411G>A (p.Glu471Lys) c.230-1295G>A (n.230-1295G>A) c.*1499G>A (n.*1499G>A) c.976G>A (p.Glu326Lys) c.565G>A (p.Glu189Lys) c.505G>A (p.Glu169Lys) c.1189G>A (p.Glu397Lys) c.1159G>A (p.Glu387Lys) c.1033G>A (p.Glu345Lys) c.*491G>A (n.*491G>A) | |
16 | g.27362808G>C | CA395298932 | IL4R | c.1456G>C (p.Glu486Gln) c.1411G>C (p.Glu471Gln) c.230-1295G>C (n.230-1295G>C) c.*1499G>C (n.*1499G>C) c.976G>C (p.Glu326Gln) c.565G>C (p.Glu189Gln) c.505G>C (p.Glu169Gln) c.1189G>C (p.Glu397Gln) c.1159G>C (p.Glu387Gln) c.1033G>C (p.Glu345Gln) c.*491G>C (n.*491G>C) | |
16 | g.27362808G>T | CA395298933 | IL4R | c.1456G>T (p.Glu486Ter) c.1411G>T (p.Glu471Ter) c.230-1295G>T (n.230-1295G>T) c.*1499G>T (n.*1499G>T) c.976G>T (p.Glu326Ter) c.565G>T (p.Glu189Ter) c.505G>T (p.Glu169Ter) c.1189G>T (p.Glu397Ter) c.1159G>T (p.Glu387Ter) c.1033G>T (p.Glu345Ter) c.*491G>T (n.*491G>T) | |
16 | g.27362809A= | CA2215169807 | IL4R | c.1457A= (p.Glu486=) c.1412A= (p.Glu471=) c.230-1294A= (n.230-1294A=) c.*1500A= (n.*1500A=) c.977A= (p.Glu326=) c.566A= (p.Glu189=) c.506A= (p.Glu169=) c.1190A= (p.Glu397=) c.1160A= (p.Glu387=) c.1034A= (p.Glu345=) c.*492A= (n.*492A=) | |
16 | g.27362809A>C | CA395298934 | IL4R | c.1457A>C (p.Glu486Ala) c.1412A>C (p.Glu471Ala) c.230-1294A>C (n.230-1294A>C) c.*1500A>C (n.*1500A>C) c.977A>C (p.Glu326Ala) c.566A>C (p.Glu189Ala) c.506A>C (p.Glu169Ala) c.1190A>C (p.Glu397Ala) c.1160A>C (p.Glu387Ala) c.1034A>C (p.Glu345Ala) c.*492A>C (n.*492A>C) | |
16 | g.27362809A>G | CA279686893 | IL4R | c.1457A>G (p.Glu486Gly) c.1412A>G (p.Glu471Gly) c.230-1294A>G (n.230-1294A>G) c.*1500A>G (n.*1500A>G) c.977A>G (p.Glu326Gly) c.566A>G (p.Glu189Gly) c.506A>G (p.Glu169Gly) c.1190A>G (p.Glu397Gly) c.1160A>G (p.Glu387Gly) c.1034A>G (p.Glu345Gly) c.*492A>G (n.*492A>G) | dbSNP |
16 | g.27362809A>T | CA395298935 | IL4R | c.1457A>T (p.Glu486Val) c.1412A>T (p.Glu471Val) c.230-1294A>T (n.230-1294A>T) c.*1500A>T (n.*1500A>T) c.977A>T (p.Glu326Val) c.566A>T (p.Glu189Val) c.506A>T (p.Glu169Val) c.1190A>T (p.Glu397Val) c.1160A>T (p.Glu387Val) c.1034A>T (p.Glu345Val) c.*492A>T (n.*492A>T) | |
16 | g.27362810G>A | CA494470725 | IL4R | c.1458G>A (p.Glu486=) c.1413G>A (p.Glu471=) c.230-1293G>A (n.230-1293G>A) c.*1501G>A (n.*1501G>A) c.978G>A (p.Glu326=) c.567G>A (p.Glu189=) c.507G>A (p.Glu169=) c.1191G>A (p.Glu397=) c.1161G>A (p.Glu387=) c.1035G>A (p.Glu345=) c.*493G>A (n.*493G>A) | |
16 | g.27362810G>C | CA395298936 | IL4R | c.1458G>C (p.Glu486Asp) c.1413G>C (p.Glu471Asp) c.230-1293G>C (n.230-1293G>C) c.*1501G>C (n.*1501G>C) c.978G>C (p.Glu326Asp) c.567G>C (p.Glu189Asp) c.507G>C (p.Glu169Asp) c.1191G>C (p.Glu397Asp) c.1161G>C (p.Glu387Asp) c.1035G>C (p.Glu345Asp) c.*493G>C (n.*493G>C) | |
16 | g.27362810G>T | CA395298937 | IL4R | c.1458G>T (p.Glu486Asp) c.1413G>T (p.Glu471Asp) c.230-1293G>T (n.230-1293G>T) c.*1501G>T (n.*1501G>T) c.978G>T (p.Glu326Asp) c.567G>T (p.Glu189Asp) c.507G>T (p.Glu169Asp) c.1191G>T (p.Glu397Asp) c.1161G>T (p.Glu387Asp) c.1035G>T (p.Glu345Asp) c.*493G>T (n.*493G>T) | |
16 | g.27362811A>C | CA395298938 | IL4R | c.1459A>C (p.Thr487Pro) c.1414A>C (p.Thr472Pro) c.230-1292A>C (n.230-1292A>C) c.*1502A>C (n.*1502A>C) c.979A>C (p.Thr327Pro) c.568A>C (p.Thr190Pro) c.508A>C (p.Thr170Pro) c.1192A>C (p.Thr398Pro) c.1162A>C (p.Thr388Pro) c.1036A>C (p.Thr346Pro) c.*494A>C (n.*494A>C) | |
16 | g.27362811A>G | CA395298940 | IL4R | c.1459A>G (p.Thr487Ala) c.1414A>G (p.Thr472Ala) c.230-1292A>G (n.230-1292A>G) c.*1502A>G (n.*1502A>G) c.979A>G (p.Thr327Ala) c.568A>G (p.Thr190Ala) c.508A>G (p.Thr170Ala) c.1192A>G (p.Thr398Ala) c.1162A>G (p.Thr388Ala) c.1036A>G (p.Thr346Ala) c.*494A>G (n.*494A>G) | gnomAD v4 |
16 | g.27362811A>T | CA395298939 | IL4R | c.1459A>T (p.Thr487Ser) c.1414A>T (p.Thr472Ser) c.230-1292A>T (n.230-1292A>T) c.*1502A>T (n.*1502A>T) c.979A>T (p.Thr327Ser) c.568A>T (p.Thr190Ser) c.508A>T (p.Thr170Ser) c.1192A>T (p.Thr398Ser) c.1162A>T (p.Thr388Ser) c.1036A>T (p.Thr346Ser) c.*494A>T (n.*494A>T) | |
16 | g.27362812C>A | CA395298941 | IL4R | c.1460C>A (p.Thr487Lys) c.1415C>A (p.Thr472Lys) c.230-1291C>A (n.230-1291C>A) c.*1503C>A (n.*1503C>A) c.980C>A (p.Thr327Lys) c.569C>A (p.Thr190Lys) c.509C>A (p.Thr170Lys) c.1193C>A (p.Thr398Lys) c.1163C>A (p.Thr388Lys) c.1037C>A (p.Thr346Lys) c.*495C>A (n.*495C>A) | |
16 | g.27362812C= | CA2215169810 | IL4R | c.1460C= (p.Thr487=) c.1415C= (p.Thr472=) c.230-1291C= (n.230-1291C=) c.*1503C= (n.*1503C=) c.980C= (p.Thr327=) c.569C= (p.Thr190=) c.509C= (p.Thr170=) c.1193C= (p.Thr398=) c.1163C= (p.Thr388=) c.1037C= (p.Thr346=) c.*495C= (n.*495C=) | |
16 | g.27362812C>G | CA395298942 | IL4R | c.1460C>G (p.Thr487Arg) c.1415C>G (p.Thr472Arg) c.230-1291C>G (n.230-1291C>G) c.*1503C>G (n.*1503C>G) c.980C>G (p.Thr327Arg) c.569C>G (p.Thr190Arg) c.509C>G (p.Thr170Arg) c.1193C>G (p.Thr398Arg) c.1163C>G (p.Thr388Arg) c.1037C>G (p.Thr346Arg) c.*495C>G (n.*495C>G) | |
16 | g.27362812C>T | CA7974567 | IL4R | c.1460C>T (p.Thr487Met) c.1415C>T (p.Thr472Met) c.230-1291C>T (n.230-1291C>T) c.*1503C>T (n.*1503C>T) c.980C>T (p.Thr327Met) c.569C>T (p.Thr190Met) c.509C>T (p.Thr170Met) c.1193C>T (p.Thr398Met) c.1163C>T (p.Thr388Met) c.1037C>T (p.Thr346Met) c.*495C>T (n.*495C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.27362813G>A | CA494470142 | IL4R | c.1461G>A (p.Thr487=) c.1416G>A (p.Thr472=) c.230-1290G>A (n.230-1290G>A) c.*1504G>A (n.*1504G>A) c.981G>A (p.Thr327=) c.570G>A (p.Thr190=) c.510G>A (p.Thr170=) c.1194G>A (p.Thr398=) c.1164G>A (p.Thr388=) c.1038G>A (p.Thr346=) c.*496G>A (n.*496G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.27362813G>C | CA494470143 | IL4R | c.1461G>C (p.Thr487=) c.1416G>C (p.Thr472=) c.230-1290G>C (n.230-1290G>C) c.*1504G>C (n.*1504G>C) c.981G>C (p.Thr327=) c.570G>C (p.Thr190=) c.510G>C (p.Thr170=) c.1194G>C (p.Thr398=) c.1164G>C (p.Thr388=) c.1038G>C (p.Thr346=) c.*496G>C (n.*496G>C) | |
16 | g.27362813G= | CA2215169814 | IL4R | c.1461G= (p.Thr487=) c.1416G= (p.Thr472=) c.230-1290G= (n.230-1290G=) c.*1504G= (n.*1504G=) c.981G= (p.Thr327=) c.570G= (p.Thr190=) c.510G= (p.Thr170=) c.1194G= (p.Thr398=) c.1164G= (p.Thr388=) c.1038G= (p.Thr346=) c.*496G= (n.*496G=) | |
16 | g.27362813G>T | CA494470144 | IL4R | c.1461G>T (p.Thr487=) c.1416G>T (p.Thr472=) c.230-1290G>T (n.230-1290G>T) c.*1504G>T (n.*1504G>T) c.981G>T (p.Thr327=) c.570G>T (p.Thr190=) c.510G>T (p.Thr170=) c.1194G>T (p.Thr398=) c.1164G>T (p.Thr388=) c.1038G>T (p.Thr346=) c.*496G>T (n.*496G>T) | dbSNP gnomAD v4 |
16 | g.27362814C>A | CA395298943 | IL4R | c.1462C>A (p.Pro488Thr) c.1417C>A (p.Pro473Thr) c.230-1289C>A (n.230-1289C>A) c.*1505C>A (n.*1505C>A) c.982C>A (p.Pro328Thr) c.571C>A (p.Pro191Thr) c.511C>A (p.Pro171Thr) c.1195C>A (p.Pro399Thr) c.1165C>A (p.Pro389Thr) c.1039C>A (p.Pro347Thr) c.*497C>A (n.*497C>A) | |
16 | g.27362814C= | CA2215169815 | IL4R | c.1462C= (p.Pro488=) c.1417C= (p.Pro473=) c.230-1289C= (n.230-1289C=) c.*1505C= (n.*1505C=) c.982C= (p.Pro328=) c.571C= (p.Pro191=) c.511C= (p.Pro171=) c.1195C= (p.Pro399=) c.1165C= (p.Pro389=) c.1039C= (p.Pro347=) c.*497C= (n.*497C=) | |
16 | g.27362814C>G | CA395298944 | IL4R | c.1462C>G (p.Pro488Ala) c.1417C>G (p.Pro473Ala) c.230-1289C>G (n.230-1289C>G) c.*1505C>G (n.*1505C>G) c.982C>G (p.Pro328Ala) c.571C>G (p.Pro191Ala) c.511C>G (p.Pro171Ala) c.1195C>G (p.Pro399Ala) c.1165C>G (p.Pro389Ala) c.1039C>G (p.Pro347Ala) c.*497C>G (n.*497C>G) | |
16 | g.27362814C>T | CA395298945 | IL4R | c.1462C>T (p.Pro488Ser) c.1417C>T (p.Pro473Ser) c.230-1289C>T (n.230-1289C>T) c.*1505C>T (n.*1505C>T) c.982C>T (p.Pro328Ser) c.571C>T (p.Pro191Ser) c.511C>T (p.Pro171Ser) c.1195C>T (p.Pro399Ser) c.1165C>T (p.Pro389Ser) c.1039C>T (p.Pro347Ser) c.*497C>T (n.*497C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362815C>A | CA395298946 | IL4R | c.1463C>A (p.Pro488His) c.1418C>A (p.Pro473His) c.230-1288C>A (n.230-1288C>A) c.*1506C>A (n.*1506C>A) c.983C>A (p.Pro328His) c.572C>A (p.Pro191His) c.512C>A (p.Pro171His) c.1196C>A (p.Pro399His) c.1166C>A (p.Pro389His) c.1040C>A (p.Pro347His) c.*498C>A (n.*498C>A) | |
16 | g.27362815C>G | CA395298947 | IL4R | c.1463C>G (p.Pro488Arg) c.1418C>G (p.Pro473Arg) c.230-1288C>G (n.230-1288C>G) c.*1506C>G (n.*1506C>G) c.983C>G (p.Pro328Arg) c.572C>G (p.Pro191Arg) c.512C>G (p.Pro171Arg) c.1196C>G (p.Pro399Arg) c.1166C>G (p.Pro389Arg) c.1040C>G (p.Pro347Arg) c.*498C>G (n.*498C>G) | |
16 | g.27362815C>T | CA395298948 | IL4R | c.1463C>T (p.Pro488Leu) c.1418C>T (p.Pro473Leu) c.230-1288C>T (n.230-1288C>T) c.*1506C>T (n.*1506C>T) c.983C>T (p.Pro328Leu) c.572C>T (p.Pro191Leu) c.512C>T (p.Pro171Leu) c.1196C>T (p.Pro399Leu) c.1166C>T (p.Pro389Leu) c.1040C>T (p.Pro347Leu) c.*498C>T (n.*498C>T) | |
16 | g.27362816C>A | CA494470145 | IL4R | c.1464C>A (p.Pro488=) c.1419C>A (p.Pro473=) c.230-1287C>A (n.230-1287C>A) c.*1507C>A (n.*1507C>A) c.984C>A (p.Pro328=) c.573C>A (p.Pro191=) c.513C>A (p.Pro171=) c.1197C>A (p.Pro399=) c.1167C>A (p.Pro389=) c.1041C>A (p.Pro347=) c.*499C>A (n.*499C>A) | |
16 | g.27362816C= | CA2215169819 | IL4R | c.1464C= (p.Pro488=) c.1419C= (p.Pro473=) c.230-1287C= (n.230-1287C=) c.*1507C= (n.*1507C=) c.984C= (p.Pro328=) c.573C= (p.Pro191=) c.513C= (p.Pro171=) c.1197C= (p.Pro399=) c.1167C= (p.Pro389=) c.1041C= (p.Pro347=) c.*499C= (n.*499C=) | |
16 | g.27362816C>G | CA494470146 | IL4R | c.1464C>G (p.Pro488=) c.1419C>G (p.Pro473=) c.230-1287C>G (n.230-1287C>G) c.*1507C>G (n.*1507C>G) c.984C>G (p.Pro328=) c.573C>G (p.Pro191=) c.513C>G (p.Pro171=) c.1197C>G (p.Pro399=) c.1167C>G (p.Pro389=) c.1041C>G (p.Pro347=) c.*499C>G (n.*499C>G) | |
16 | g.27362816C>T | CA7974568 | IL4R | c.1464C>T (p.Pro488=) c.1419C>T (p.Pro473=) c.230-1287C>T (n.230-1287C>T) c.*1507C>T (n.*1507C>T) c.984C>T (p.Pro328=) c.573C>T (p.Pro191=) c.513C>T (p.Pro171=) c.1197C>T (p.Pro399=) c.1167C>T (p.Pro389=) c.1041C>T (p.Pro347=) c.*499C>T (n.*499C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362817C>A | CA395298949 | IL4R | c.1465C>A (p.Leu489Ile) c.1420C>A (p.Leu474Ile) c.230-1286C>A (n.230-1286C>A) c.*1508C>A (n.*1508C>A) c.985C>A (p.Leu329Ile) c.574C>A (p.Leu192Ile) c.514C>A (p.Leu172Ile) c.1198C>A (p.Leu400Ile) c.1168C>A (p.Leu390Ile) c.1042C>A (p.Leu348Ile) c.*500C>A (n.*500C>A) | |
16 | g.27362817C>G | CA395298950 | IL4R | c.1465C>G (p.Leu489Val) c.1420C>G (p.Leu474Val) c.230-1286C>G (n.230-1286C>G) c.*1508C>G (n.*1508C>G) c.985C>G (p.Leu329Val) c.574C>G (p.Leu192Val) c.514C>G (p.Leu172Val) c.1198C>G (p.Leu400Val) c.1168C>G (p.Leu390Val) c.1042C>G (p.Leu348Val) c.*500C>G (n.*500C>G) | |
16 | g.27362817C>T | CA395298951 | IL4R | c.1465C>T (p.Leu489Phe) c.1420C>T (p.Leu474Phe) c.230-1286C>T (n.230-1286C>T) c.*1508C>T (n.*1508C>T) c.985C>T (p.Leu329Phe) c.574C>T (p.Leu192Phe) c.514C>T (p.Leu172Phe) c.1198C>T (p.Leu400Phe) c.1168C>T (p.Leu390Phe) c.1042C>T (p.Leu348Phe) c.*500C>T (n.*500C>T) | |
16 | g.27362818T>A | CA395298952 | IL4R | c.1466T>A (p.Leu489His) c.1421T>A (p.Leu474His) c.230-1285T>A (n.230-1285T>A) c.*1509T>A (n.*1509T>A) c.986T>A (p.Leu329His) c.575T>A (p.Leu192His) c.515T>A (p.Leu172His) c.1199T>A (p.Leu400His) c.1169T>A (p.Leu390His) c.1043T>A (p.Leu348His) c.*501T>A (n.*501T>A) | |
16 | g.27362818T>C | CA395298954 | IL4R | c.1466T>C (p.Leu489Pro) c.1421T>C (p.Leu474Pro) c.230-1285T>C (n.230-1285T>C) c.*1509T>C (n.*1509T>C) c.986T>C (p.Leu329Pro) c.575T>C (p.Leu192Pro) c.515T>C (p.Leu172Pro) c.1199T>C (p.Leu400Pro) c.1169T>C (p.Leu390Pro) c.1043T>C (p.Leu348Pro) c.*501T>C (n.*501T>C) | |
16 | g.27362818T>G | CA395298953 | IL4R | c.1466T>G (p.Leu489Arg) c.1421T>G (p.Leu474Arg) c.230-1285T>G (n.230-1285T>G) c.*1509T>G (n.*1509T>G) c.986T>G (p.Leu329Arg) c.575T>G (p.Leu192Arg) c.515T>G (p.Leu172Arg) c.1199T>G (p.Leu400Arg) c.1169T>G (p.Leu390Arg) c.1043T>G (p.Leu348Arg) c.*501T>G (n.*501T>G) | |
16 | g.27362819C>A | CA494470147 | IL4R | c.1467C>A (p.Leu489=) c.1422C>A (p.Leu474=) c.230-1284C>A (n.230-1284C>A) c.*1510C>A (n.*1510C>A) c.987C>A (p.Leu329=) c.576C>A (p.Leu192=) c.516C>A (p.Leu172=) c.1200C>A (p.Leu400=) c.1170C>A (p.Leu390=) c.1044C>A (p.Leu348=) c.*502C>A (n.*502C>A) | |
16 | g.27362819C= | CA2215169820 | IL4R | c.1467C= (p.Leu489=) c.1422C= (p.Leu474=) c.230-1284C= (n.230-1284C=) c.*1510C= (n.*1510C=) c.987C= (p.Leu329=) c.576C= (p.Leu192=) c.516C= (p.Leu172=) c.1200C= (p.Leu400=) c.1170C= (p.Leu390=) c.1044C= (p.Leu348=) c.*502C= (n.*502C=) | |
16 | g.27362819C>G | CA494470148 | IL4R | c.1467C>G (p.Leu489=) c.1422C>G (p.Leu474=) c.230-1284C>G (n.230-1284C>G) c.*1510C>G (n.*1510C>G) c.987C>G (p.Leu329=) c.576C>G (p.Leu192=) c.516C>G (p.Leu172=) c.1200C>G (p.Leu400=) c.1170C>G (p.Leu390=) c.1044C>G (p.Leu348=) c.*502C>G (n.*502C>G) | gnomAD v4 |
16 | g.27362819C>T | CA7974569 | IL4R | c.1467C>T (p.Leu489=) c.1422C>T (p.Leu474=) c.230-1284C>T (n.230-1284C>T) c.*1510C>T (n.*1510C>T) c.987C>T (p.Leu329=) c.576C>T (p.Leu192=) c.516C>T (p.Leu172=) c.1200C>T (p.Leu400=) c.1170C>T (p.Leu390=) c.1044C>T (p.Leu348=) c.*502C>T (n.*502C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362820G>A | CA7974570 | IL4R | c.1468G>A (p.Val490Ile) c.1423G>A (p.Val475Ile) c.230-1283G>A (n.230-1283G>A) c.*1511G>A (n.*1511G>A) c.988G>A (p.Val330Ile) c.577G>A (p.Val193Ile) c.517G>A (p.Val173Ile) c.1201G>A (p.Val401Ile) c.1171G>A (p.Val391Ile) c.1045G>A (p.Val349Ile) c.*503G>A (n.*503G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.27362820G>C | CA395298955 | IL4R | c.1468G>C (p.Val490Leu) c.1423G>C (p.Val475Leu) c.230-1283G>C (n.230-1283G>C) c.*1511G>C (n.*1511G>C) c.988G>C (p.Val330Leu) c.577G>C (p.Val193Leu) c.517G>C (p.Val173Leu) c.1201G>C (p.Val401Leu) c.1171G>C (p.Val391Leu) c.1045G>C (p.Val349Leu) c.*503G>C (n.*503G>C) | gnomAD v4 |
16 | g.27362820G= | CA2215169821 | IL4R | c.1468G= (p.Val490=) c.1423G= (p.Val475=) c.230-1283G= (n.230-1283G=) c.*1511G= (n.*1511G=) c.988G= (p.Val330=) c.577G= (p.Val193=) c.517G= (p.Val173=) c.1201G= (p.Val401=) c.1171G= (p.Val391=) c.1045G= (p.Val349=) c.*503G= (n.*503G=) | |
16 | g.27362820G>T | CA395298956 | IL4R | c.1468G>T (p.Val490Phe) c.1423G>T (p.Val475Phe) c.230-1283G>T (n.230-1283G>T) c.*1511G>T (n.*1511G>T) c.988G>T (p.Val330Phe) c.577G>T (p.Val193Phe) c.517G>T (p.Val173Phe) c.1201G>T (p.Val401Phe) c.1171G>T (p.Val391Phe) c.1045G>T (p.Val349Phe) c.*503G>T (n.*503G>T) | |
16 | g.27362821T>A | CA395298957 | IL4R | c.1469T>A (p.Val490Asp) c.1424T>A (p.Val475Asp) c.230-1282T>A (n.230-1282T>A) c.*1512T>A (n.*1512T>A) c.989T>A (p.Val330Asp) c.578T>A (p.Val193Asp) c.518T>A (p.Val173Asp) c.1202T>A (p.Val401Asp) c.1172T>A (p.Val391Asp) c.1046T>A (p.Val349Asp) c.*504T>A (n.*504T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362821T>C | CA395298958 | IL4R | c.1469T>C (p.Val490Ala) c.1424T>C (p.Val475Ala) c.230-1282T>C (n.230-1282T>C) c.*1512T>C (n.*1512T>C) c.989T>C (p.Val330Ala) c.578T>C (p.Val193Ala) c.518T>C (p.Val173Ala) c.1202T>C (p.Val401Ala) c.1172T>C (p.Val391Ala) c.1046T>C (p.Val349Ala) c.*504T>C (n.*504T>C) | |
16 | g.27362821T>G | CA395298959 | IL4R | c.1469T>G (p.Val490Gly) c.1424T>G (p.Val475Gly) c.230-1282T>G (n.230-1282T>G) c.*1512T>G (n.*1512T>G) c.989T>G (p.Val330Gly) c.578T>G (p.Val193Gly) c.518T>G (p.Val173Gly) c.1202T>G (p.Val401Gly) c.1172T>G (p.Val391Gly) c.1046T>G (p.Val349Gly) c.*504T>G (n.*504T>G) | |
16 | g.27362821T= | CA2215169826 | IL4R | c.1469T= (p.Val490=) c.1424T= (p.Val475=) c.230-1282T= (n.230-1282T=) c.*1512T= (n.*1512T=) c.989T= (p.Val330=) c.578T= (p.Val193=) c.518T= (p.Val173=) c.1202T= (p.Val401=) c.1172T= (p.Val391=) c.1046T= (p.Val349=) c.*504T= (n.*504T=) | |
16 | g.27362822C>A | CA494470151 | IL4R | c.1470C>A (p.Val490=) c.1425C>A (p.Val475=) c.230-1281C>A (n.230-1281C>A) c.*1513C>A (n.*1513C>A) c.990C>A (p.Val330=) c.579C>A (p.Val193=) c.519C>A (p.Val173=) c.1203C>A (p.Val401=) c.1173C>A (p.Val391=) c.1047C>A (p.Val349=) c.*505C>A (n.*505C>A) | |
16 | g.27362822C= | CA2215169828 | IL4R | c.1470C= (p.Val490=) c.1425C= (p.Val475=) c.230-1281C= (n.230-1281C=) c.*1513C= (n.*1513C=) c.990C= (p.Val330=) c.579C= (p.Val193=) c.519C= (p.Val173=) c.1203C= (p.Val401=) c.1173C= (p.Val391=) c.1047C= (p.Val349=) c.*505C= (n.*505C=) | |
16 | g.27362822C>G | CA494470150 | IL4R | c.1470C>G (p.Val490=) c.1425C>G (p.Val475=) c.230-1281C>G (n.230-1281C>G) c.*1513C>G (n.*1513C>G) c.990C>G (p.Val330=) c.579C>G (p.Val193=) c.519C>G (p.Val173=) c.1203C>G (p.Val401=) c.1173C>G (p.Val391=) c.1047C>G (p.Val349=) c.*505C>G (n.*505C>G) | |
16 | g.27362822C>T | CA494470149 | IL4R | c.1470C>T (p.Val490=) c.1425C>T (p.Val475=) c.230-1281C>T (n.230-1281C>T) c.*1513C>T (n.*1513C>T) c.990C>T (p.Val330=) c.579C>T (p.Val193=) c.519C>T (p.Val173=) c.1203C>T (p.Val401=) c.1173C>T (p.Val391=) c.1047C>T (p.Val349=) c.*505C>T (n.*505C>T) | dbSNP gnomAD v4 COSMIC |
16 | g.27362823A>C | CA395298960 | IL4R | c.1471A>C (p.Ile491Leu) c.1426A>C (p.Ile476Leu) c.230-1280A>C (n.230-1280A>C) c.*1514A>C (n.*1514A>C) c.991A>C (p.Ile331Leu) c.580A>C (p.Ile194Leu) c.520A>C (p.Ile174Leu) c.1204A>C (p.Ile402Leu) c.1174A>C (p.Ile392Leu) c.1048A>C (p.Ile350Leu) c.*506A>C (n.*506A>C) | |
16 | g.27362823A>G | CA395298961 | IL4R | c.1471A>G (p.Ile491Val) c.1426A>G (p.Ile476Val) c.230-1280A>G (n.230-1280A>G) c.*1514A>G (n.*1514A>G) c.991A>G (p.Ile331Val) c.580A>G (p.Ile194Val) c.520A>G (p.Ile174Val) c.1204A>G (p.Ile402Val) c.1174A>G (p.Ile392Val) c.1048A>G (p.Ile350Val) c.*506A>G (n.*506A>G) | |
16 | g.27362823A>T | CA395298962 | IL4R | c.1471A>T (p.Ile491Phe) c.1426A>T (p.Ile476Phe) c.230-1280A>T (n.230-1280A>T) c.*1514A>T (n.*1514A>T) c.991A>T (p.Ile331Phe) c.580A>T (p.Ile194Phe) c.520A>T (p.Ile174Phe) c.1204A>T (p.Ile402Phe) c.1174A>T (p.Ile392Phe) c.1048A>T (p.Ile350Phe) c.*506A>T (n.*506A>T) | |
16 | g.27362824T>A | CA395298964 | IL4R | c.1472T>A (p.Ile491Asn) c.1427T>A (p.Ile476Asn) c.230-1279T>A (n.230-1279T>A) c.*1515T>A (n.*1515T>A) c.992T>A (p.Ile331Asn) c.581T>A (p.Ile194Asn) c.521T>A (p.Ile174Asn) c.1205T>A (p.Ile402Asn) c.1175T>A (p.Ile392Asn) c.1049T>A (p.Ile350Asn) c.*507T>A (n.*507T>A) | |
16 | g.27362824T>C | CA395298965 | IL4R | c.1472T>C (p.Ile491Thr) c.1427T>C (p.Ile476Thr) c.230-1279T>C (n.230-1279T>C) c.*1515T>C (n.*1515T>C) c.992T>C (p.Ile331Thr) c.581T>C (p.Ile194Thr) c.521T>C (p.Ile174Thr) c.1205T>C (p.Ile402Thr) c.1175T>C (p.Ile392Thr) c.1049T>C (p.Ile350Thr) c.*507T>C (n.*507T>C) | |
16 | g.27362824T>G | CA395298963 | IL4R | c.1472T>G (p.Ile491Ser) c.1427T>G (p.Ile476Ser) c.230-1279T>G (n.230-1279T>G) c.*1515T>G (n.*1515T>G) c.992T>G (p.Ile331Ser) c.581T>G (p.Ile194Ser) c.521T>G (p.Ile174Ser) c.1205T>G (p.Ile402Ser) c.1175T>G (p.Ile392Ser) c.1049T>G (p.Ile350Ser) c.*507T>G (n.*507T>G) | |
16 | g.27362825C>A | CA494470152 | IL4R | c.1473C>A (p.Ile491=) c.1428C>A (p.Ile476=) c.230-1278C>A (n.230-1278C>A) c.*1516C>A (n.*1516C>A) c.993C>A (p.Ile331=) c.582C>A (p.Ile194=) c.522C>A (p.Ile174=) c.1206C>A (p.Ile402=) c.1176C>A (p.Ile392=) c.1050C>A (p.Ile350=) c.*508C>A (n.*508C>A) | |
16 | g.27362825C= | CA2215169829 | IL4R | c.1473C= (p.Ile491=) c.1428C= (p.Ile476=) c.230-1278C= (n.230-1278C=) c.*1516C= (n.*1516C=) c.993C= (p.Ile331=) c.582C= (p.Ile194=) c.522C= (p.Ile174=) c.1206C= (p.Ile402=) c.1176C= (p.Ile392=) c.1050C= (p.Ile350=) c.*508C= (n.*508C=) | |
16 | g.27362825C>G | CA395298966 | IL4R | c.1473C>G (p.Ile491Met) c.1428C>G (p.Ile476Met) c.230-1278C>G (n.230-1278C>G) c.*1516C>G (n.*1516C>G) c.993C>G (p.Ile331Met) c.582C>G (p.Ile194Met) c.522C>G (p.Ile174Met) c.1206C>G (p.Ile402Met) c.1176C>G (p.Ile392Met) c.1050C>G (p.Ile350Met) c.*508C>G (n.*508C>G) | |
16 | g.27362825C>T | CA7974571 | IL4R | c.1473C>T (p.Ile491=) c.1428C>T (p.Ile476=) c.230-1278C>T (n.230-1278C>T) c.*1516C>T (n.*1516C>T) c.993C>T (p.Ile331=) c.582C>T (p.Ile194=) c.522C>T (p.Ile174=) c.1206C>T (p.Ile402=) c.1176C>T (p.Ile392=) c.1050C>T (p.Ile350=) c.*508C>T (n.*508C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362825_27362826delinsCG | CA2215169831 | IL4R | c.1473_1474delinsCG (p.Ile491=) c.1428_1429delinsCG (p.Ile476=) c.230-1278_230-1277delinsCG (n.230-1278_230-1277delinsCG) c.*1516_*1517delinsCG (n.*1516_*1517delinsCG) c.993_994delinsCG (p.Ile331=) c.582_583delinsCG (p.Ile194=) c.522_523delinsCG (p.Ile174=) c.1206_1207delinsCG (p.Ile402=) c.1176_1177delinsCG (p.Ile392=) c.1050_1051delinsCG (p.Ile350=) c.*508_*509delinsCG (n.*508_*509delinsCG) | |
16 | g.27362825_27362827delinsCGC | CA2215169830 | IL4R | c.1473_1475delinsCGC (p.Ile491=) c.1428_1430delinsCGC (p.Ile476=) c.230-1278_230-1276delinsCGC (n.230-1278_230-1276delinsCGC) c.*1516_*1518delinsCGC (n.*1516_*1518delinsCGC) c.993_995delinsCGC (p.Ile331=) c.582_584delinsCGC (p.Ile194=) c.522_524delinsCGC (p.Ile174=) c.1206_1208delinsCGC (p.Ile402=) c.1176_1178delinsCGC (p.Ile392=) c.1050_1052delinsCGC (p.Ile350=) c.*508_*510delinsCGC (n.*508_*510delinsCGC) | |
16 | g.27362826del | CA919683178 | IL4R | c.1474del (p.Ala492GlnfsTer13) c.1429del (p.Ala477GlnfsTer13) c.230-1277del (n.230-1277del) c.*1517del (n.*1517del) c.994del (p.Ala332GlnfsTer13) c.583del (p.Ala195GlnfsTer13) c.523del (p.Ala175GlnfsTer13) c.1207del (p.Ala403GlnfsTer13) c.1177del (p.Ala393GlnfsTer13) c.1051del (p.Ala351GlnfsTer13) c.*509del (n.*509del) | dbSNP |
16 | g.27362826G>A | CA7974572 | IL4R | c.1474G>A (p.Ala492Thr) c.1429G>A (p.Ala477Thr) c.230-1277G>A (n.230-1277G>A) c.*1517G>A (n.*1517G>A) c.994G>A (p.Ala332Thr) c.583G>A (p.Ala195Thr) c.523G>A (p.Ala175Thr) c.1207G>A (p.Ala403Thr) c.1177G>A (p.Ala393Thr) c.1051G>A (p.Ala351Thr) c.*509G>A (n.*509G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362826G>C | CA395298967 | IL4R | c.1474G>C (p.Ala492Pro) c.1429G>C (p.Ala477Pro) c.230-1277G>C (n.230-1277G>C) c.*1517G>C (n.*1517G>C) c.994G>C (p.Ala332Pro) c.583G>C (p.Ala195Pro) c.523G>C (p.Ala175Pro) c.1207G>C (p.Ala403Pro) c.1177G>C (p.Ala393Pro) c.1051G>C (p.Ala351Pro) c.*509G>C (n.*509G>C) | |
16 | g.27362826G= | CA2215169840 | IL4R | c.1474G= (p.Ala492=) c.1429G= (p.Ala477=) c.230-1277G= (n.230-1277G=) c.*1517G= (n.*1517G=) c.994G= (p.Ala332=) c.583G= (p.Ala195=) c.523G= (p.Ala175=) c.1207G= (p.Ala403=) c.1177G= (p.Ala393=) c.1051G= (p.Ala351=) c.*509G= (n.*509G=) | |
16 | g.27362826G>T | CA395298968 | IL4R | c.1474G>T (p.Ala492Ser) c.1429G>T (p.Ala477Ser) c.230-1277G>T (n.230-1277G>T) c.*1517G>T (n.*1517G>T) c.994G>T (p.Ala332Ser) c.583G>T (p.Ala195Ser) c.523G>T (p.Ala175Ser) c.1207G>T (p.Ala403Ser) c.1177G>T (p.Ala393Ser) c.1051G>T (p.Ala351Ser) c.*509G>T (n.*509G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362826_27362827delinsA | CA919683179 | IL4R | c.1474_1475delinsA (p.Ala492LysfsTer13) c.1429_1430delinsA (p.Ala477LysfsTer13) c.230-1277_230-1276delinsA (n.230-1277_230-1276delinsA) c.*1517_*1518delinsA (n.*1517_*1518delinsA) c.994_995delinsA (p.Ala332LysfsTer13) c.583_584delinsA (p.Ala195LysfsTer13) c.523_524delinsA (p.Ala175LysfsTer13) c.1207_1208delinsA (p.Ala403LysfsTer13) c.1177_1178delinsA (p.Ala393LysfsTer13) c.1051_1052delinsA (p.Ala351LysfsTer13) c.*509_*510delinsA (n.*509_*510delinsA) | dbSNP |
16 | g.27362826_27362827delinsT | CA919683180 | IL4R | c.1474_1475delinsT (p.Ala492Ter) c.1429_1430delinsT (p.Ala477Ter) c.230-1277_230-1276delinsT (n.230-1277_230-1276delinsT) c.*1517_*1518delinsT (n.*1517_*1518delinsT) c.994_995delinsT (p.Ala332Ter) c.583_584delinsT (p.Ala195Ter) c.523_524delinsT (p.Ala175Ter) c.1207_1208delinsT (p.Ala403Ter) c.1177_1178delinsT (p.Ala393Ter) c.1051_1052delinsT (p.Ala351Ter) c.*509_*510delinsT (n.*509_*510delinsT) | dbSNP |
16 | g.27362826_27362827delinsGC | CA2215169836 | IL4R | c.1474_1475delinsGC (p.Ala492=) c.1429_1430delinsGC (p.Ala477=) c.230-1277_230-1276delinsGC (n.230-1277_230-1276delinsGC) c.*1517_*1518delinsGC (n.*1517_*1518delinsGC) c.994_995delinsGC (p.Ala332=) c.583_584delinsGC (p.Ala195=) c.523_524delinsGC (p.Ala175=) c.1207_1208delinsGC (p.Ala403=) c.1177_1178delinsGC (p.Ala393=) c.1051_1052delinsGC (p.Ala351=) c.*509_*510delinsGC (n.*509_*510delinsGC) | |
16 | g.27362827del | CA919683181 | IL4R | c.1475del (p.Ala492GlufsTer13) c.1430del (p.Ala477GlufsTer13) c.230-1276del (n.230-1276del) c.*1518del (n.*1518del) c.995del (p.Ala332GlufsTer13) c.584del (p.Ala195GlufsTer13) c.524del (p.Ala175GlufsTer13) c.1208del (p.Ala403GlufsTer13) c.1178del (p.Ala393GlufsTer13) c.1052del (p.Ala351GlufsTer13) c.*510del (n.*510del) | dbSNP |
16 | g.27362827C>A | CA395298969 | IL4R | c.1475C>A (p.Ala492Glu) c.1430C>A (p.Ala477Glu) c.230-1276C>A (n.230-1276C>A) c.*1518C>A (n.*1518C>A) c.995C>A (p.Ala332Glu) c.584C>A (p.Ala195Glu) c.524C>A (p.Ala175Glu) c.1208C>A (p.Ala403Glu) c.1178C>A (p.Ala393Glu) c.1052C>A (p.Ala351Glu) c.*510C>A (n.*510C>A) | |
16 | g.27362827C= | CA2215169847 | IL4R | c.1475C= (p.Ala492=) c.1430C= (p.Ala477=) c.230-1276C= (n.230-1276C=) c.*1518C= (n.*1518C=) c.995C= (p.Ala332=) c.584C= (p.Ala195=) c.524C= (p.Ala175=) c.1208C= (p.Ala403=) c.1178C= (p.Ala393=) c.1052C= (p.Ala351=) c.*510C= (n.*510C=) | |
16 | g.27362827C>G | CA395298970 | IL4R | c.1475C>G (p.Ala492Gly) c.1430C>G (p.Ala477Gly) c.230-1276C>G (n.230-1276C>G) c.*1518C>G (n.*1518C>G) c.995C>G (p.Ala332Gly) c.584C>G (p.Ala195Gly) c.524C>G (p.Ala175Gly) c.1208C>G (p.Ala403Gly) c.1178C>G (p.Ala393Gly) c.1052C>G (p.Ala351Gly) c.*510C>G (n.*510C>G) | |
16 | g.27362827C>T | CA7974573 | IL4R | c.1475C>T (p.Ala492Val) c.1430C>T (p.Ala477Val) c.230-1276C>T (n.230-1276C>T) c.*1518C>T (n.*1518C>T) c.995C>T (p.Ala332Val) c.584C>T (p.Ala195Val) c.524C>T (p.Ala175Val) c.1208C>T (p.Ala403Val) c.1178C>T (p.Ala393Val) c.1052C>T (p.Ala351Val) c.*510C>T (n.*510C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362828A= | CA2215169850 | IL4R | c.1476A= (p.Ala492=) c.1431A= (p.Ala477=) c.230-1275A= (n.230-1275A=) c.*1519A= (n.*1519A=) c.996A= (p.Ala332=) c.585A= (p.Ala195=) c.525A= (p.Ala175=) c.1209A= (p.Ala403=) c.1179A= (p.Ala393=) c.1053A= (p.Ala351=) c.*511A= (n.*511A=) | |
16 | g.27362828A>C | CA7974574 | IL4R | c.1476A>C (p.Ala492=) c.1431A>C (p.Ala477=) c.230-1275A>C (n.230-1275A>C) c.*1519A>C (n.*1519A>C) c.996A>C (p.Ala332=) c.585A>C (p.Ala195=) c.525A>C (p.Ala175=) c.1209A>C (p.Ala403=) c.1179A>C (p.Ala393=) c.1053A>C (p.Ala351=) c.*511A>C (n.*511A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362828A>G | CA7974575 | IL4R | c.1476A>G (p.Ala492=) c.1431A>G (p.Ala477=) c.230-1275A>G (n.230-1275A>G) c.*1519A>G (n.*1519A>G) c.996A>G (p.Ala332=) c.585A>G (p.Ala195=) c.525A>G (p.Ala175=) c.1209A>G (p.Ala403=) c.1179A>G (p.Ala393=) c.1053A>G (p.Ala351=) c.*511A>G (n.*511A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362828A>T | CA494470153 | IL4R | c.1476A>T (p.Ala492=) c.1431A>T (p.Ala477=) c.230-1275A>T (n.230-1275A>T) c.*1519A>T (n.*1519A>T) c.996A>T (p.Ala332=) c.585A>T (p.Ala195=) c.525A>T (p.Ala175=) c.1209A>T (p.Ala403=) c.1179A>T (p.Ala393=) c.1053A>T (p.Ala351=) c.*511A>T (n.*511A>T) | COSMIC |
16 | g.27362829G>A | CA395298971 | IL4R | c.1477G>A (p.Gly493Ser) c.1432G>A (p.Gly478Ser) c.230-1274G>A (n.230-1274G>A) c.*1520G>A (n.*1520G>A) c.997G>A (p.Gly333Ser) c.586G>A (p.Gly196Ser) c.526G>A (p.Gly176Ser) c.1210G>A (p.Gly404Ser) c.1180G>A (p.Gly394Ser) c.1054G>A (p.Gly352Ser) c.*512G>A (n.*512G>A) | |
16 | g.27362829G>C | CA395298972 | IL4R | c.1477G>C (p.Gly493Arg) c.1432G>C (p.Gly478Arg) c.230-1274G>C (n.230-1274G>C) c.*1520G>C (n.*1520G>C) c.997G>C (p.Gly333Arg) c.586G>C (p.Gly196Arg) c.526G>C (p.Gly176Arg) c.1210G>C (p.Gly404Arg) c.1180G>C (p.Gly394Arg) c.1054G>C (p.Gly352Arg) c.*512G>C (n.*512G>C) | |
16 | g.27362829G>T | CA395298973 | IL4R | c.1477G>T (p.Gly493Cys) c.1432G>T (p.Gly478Cys) c.230-1274G>T (n.230-1274G>T) c.*1520G>T (n.*1520G>T) c.997G>T (p.Gly333Cys) c.586G>T (p.Gly196Cys) c.526G>T (p.Gly176Cys) c.1210G>T (p.Gly404Cys) c.1180G>T (p.Gly394Cys) c.1054G>T (p.Gly352Cys) c.*512G>T (n.*512G>T) | |
16 | g.27362830G>A | CA395298976 | IL4R | c.1478G>A (p.Gly493Asp) c.1433G>A (p.Gly478Asp) c.230-1273G>A (n.230-1273G>A) c.*1521G>A (n.*1521G>A) c.998G>A (p.Gly333Asp) c.587G>A (p.Gly196Asp) c.527G>A (p.Gly176Asp) c.1211G>A (p.Gly404Asp) c.1181G>A (p.Gly394Asp) c.1055G>A (p.Gly352Asp) c.*513G>A (n.*513G>A) | gnomAD v4 |
16 | g.27362830G>C | CA395298975 | IL4R | c.1478G>C (p.Gly493Ala) c.1433G>C (p.Gly478Ala) c.230-1273G>C (n.230-1273G>C) c.*1521G>C (n.*1521G>C) c.998G>C (p.Gly333Ala) c.587G>C (p.Gly196Ala) c.527G>C (p.Gly176Ala) c.1211G>C (p.Gly404Ala) c.1181G>C (p.Gly394Ala) c.1055G>C (p.Gly352Ala) c.*513G>C (n.*513G>C) | |
16 | g.27362830G= | CA2215169851 | IL4R | c.1478G= (p.Gly493=) c.1433G= (p.Gly478=) c.230-1273G= (n.230-1273G=) c.*1521G= (n.*1521G=) c.998G= (p.Gly333=) c.587G= (p.Gly196=) c.527G= (p.Gly176=) c.1211G= (p.Gly404=) c.1181G= (p.Gly394=) c.1055G= (p.Gly352=) c.*513G= (n.*513G=) | |
16 | g.27362830G>T | CA395298974 | IL4R | c.1478G>T (p.Gly493Val) c.1433G>T (p.Gly478Val) c.230-1273G>T (n.230-1273G>T) c.*1521G>T (n.*1521G>T) c.998G>T (p.Gly333Val) c.587G>T (p.Gly196Val) c.527G>T (p.Gly176Val) c.1211G>T (p.Gly404Val) c.1181G>T (p.Gly394Val) c.1055G>T (p.Gly352Val) c.*513G>T (n.*513G>T) | dbSNP |
16 | g.27362831C>A | CA494470154 | IL4R | c.1479C>A (p.Gly493=) c.1434C>A (p.Gly478=) c.230-1272C>A (n.230-1272C>A) c.*1522C>A (n.*1522C>A) c.999C>A (p.Gly333=) c.588C>A (p.Gly196=) c.528C>A (p.Gly176=) c.1212C>A (p.Gly404=) c.1182C>A (p.Gly394=) c.1056C>A (p.Gly352=) c.*514C>A (n.*514C>A) | |
16 | g.27362831C= | CA2215169854 | IL4R | c.1479C= (p.Gly493=) c.1434C= (p.Gly478=) c.230-1272C= (n.230-1272C=) c.*1522C= (n.*1522C=) c.999C= (p.Gly333=) c.588C= (p.Gly196=) c.528C= (p.Gly176=) c.1212C= (p.Gly404=) c.1182C= (p.Gly394=) c.1056C= (p.Gly352=) c.*514C= (n.*514C=) | |
16 | g.27362831C>G | CA494470155 | IL4R | c.1479C>G (p.Gly493=) c.1434C>G (p.Gly478=) c.230-1272C>G (n.230-1272C>G) c.*1522C>G (n.*1522C>G) c.999C>G (p.Gly333=) c.588C>G (p.Gly196=) c.528C>G (p.Gly176=) c.1212C>G (p.Gly404=) c.1182C>G (p.Gly394=) c.1056C>G (p.Gly352=) c.*514C>G (n.*514C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362831C>T | CA494470156 | IL4R | c.1479C>T (p.Gly493=) c.1434C>T (p.Gly478=) c.230-1272C>T (n.230-1272C>T) c.*1522C>T (n.*1522C>T) c.999C>T (p.Gly333=) c.588C>T (p.Gly196=) c.528C>T (p.Gly176=) c.1212C>T (p.Gly404=) c.1182C>T (p.Gly394=) c.1056C>T (p.Gly352=) c.*514C>T (n.*514C>T) | |
16 | g.27362832A>C | CA395298977 | IL4R | c.1480A>C (p.Asn494His) c.1435A>C (p.Asn479His) c.230-1271A>C (n.230-1271A>C) c.*1523A>C (n.*1523A>C) c.1000A>C (p.Asn334His) c.589A>C (p.Asn197His) c.529A>C (p.Asn177His) c.1213A>C (p.Asn405His) c.1183A>C (p.Asn395His) c.1057A>C (p.Asn353His) c.*515A>C (n.*515A>C) | |
16 | g.27362832A>G | CA395298978 | IL4R | c.1480A>G (p.Asn494Asp) c.1435A>G (p.Asn479Asp) c.230-1271A>G (n.230-1271A>G) c.*1523A>G (n.*1523A>G) c.1000A>G (p.Asn334Asp) c.589A>G (p.Asn197Asp) c.529A>G (p.Asn177Asp) c.1213A>G (p.Asn405Asp) c.1183A>G (p.Asn395Asp) c.1057A>G (p.Asn353Asp) c.*515A>G (n.*515A>G) | |
16 | g.27362832A>T | CA395298979 | IL4R | c.1480A>T (p.Asn494Tyr) c.1435A>T (p.Asn479Tyr) c.230-1271A>T (n.230-1271A>T) c.*1523A>T (n.*1523A>T) c.1000A>T (p.Asn334Tyr) c.589A>T (p.Asn197Tyr) c.529A>T (p.Asn177Tyr) c.1213A>T (p.Asn405Tyr) c.1183A>T (p.Asn395Tyr) c.1057A>T (p.Asn353Tyr) c.*515A>T (n.*515A>T) | |
16 | g.27362833A>C | CA395298980 | IL4R | c.1481A>C (p.Asn494Thr) c.1436A>C (p.Asn479Thr) c.230-1270A>C (n.230-1270A>C) c.*1524A>C (n.*1524A>C) c.1001A>C (p.Asn334Thr) c.590A>C (p.Asn197Thr) c.530A>C (p.Asn177Thr) c.1214A>C (p.Asn405Thr) c.1184A>C (p.Asn395Thr) c.1058A>C (p.Asn353Thr) c.*516A>C (n.*516A>C) | |
16 | g.27362833A>G | CA395298981 | IL4R | c.1481A>G (p.Asn494Ser) c.1436A>G (p.Asn479Ser) c.230-1270A>G (n.230-1270A>G) c.*1524A>G (n.*1524A>G) c.1001A>G (p.Asn334Ser) c.590A>G (p.Asn197Ser) c.530A>G (p.Asn177Ser) c.1214A>G (p.Asn405Ser) c.1184A>G (p.Asn395Ser) c.1058A>G (p.Asn353Ser) c.*516A>G (n.*516A>G) | |
16 | g.27362833A>T | CA395298982 | IL4R | c.1481A>T (p.Asn494Ile) c.1436A>T (p.Asn479Ile) c.230-1270A>T (n.230-1270A>T) c.*1524A>T (n.*1524A>T) c.1001A>T (p.Asn334Ile) c.590A>T (p.Asn197Ile) c.530A>T (p.Asn177Ile) c.1214A>T (p.Asn405Ile) c.1184A>T (p.Asn395Ile) c.1058A>T (p.Asn353Ile) c.*516A>T (n.*516A>T) | gnomAD v4 |
16 | g.27362834C>A | CA395298983 | IL4R | c.1482C>A (p.Asn494Lys) c.1437C>A (p.Asn479Lys) c.230-1269C>A (n.230-1269C>A) c.*1525C>A (n.*1525C>A) c.1002C>A (p.Asn334Lys) c.591C>A (p.Asn197Lys) c.531C>A (p.Asn177Lys) c.1215C>A (p.Asn405Lys) c.1185C>A (p.Asn395Lys) c.1059C>A (p.Asn353Lys) c.*517C>A (n.*517C>A) | |
16 | g.27362834C>G | CA395298984 | IL4R | c.1482C>G (p.Asn494Lys) c.1437C>G (p.Asn479Lys) c.230-1269C>G (n.230-1269C>G) c.*1525C>G (n.*1525C>G) c.1002C>G (p.Asn334Lys) c.591C>G (p.Asn197Lys) c.531C>G (p.Asn177Lys) c.1215C>G (p.Asn405Lys) c.1185C>G (p.Asn395Lys) c.1059C>G (p.Asn353Lys) c.*517C>G (n.*517C>G) | |
16 | g.27362834C>T | CA494470157 | IL4R | c.1482C>T (p.Asn494=) c.1437C>T (p.Asn479=) c.230-1269C>T (n.230-1269C>T) c.*1525C>T (n.*1525C>T) c.1002C>T (p.Asn334=) c.591C>T (p.Asn197=) c.531C>T (p.Asn177=) c.1215C>T (p.Asn405=) c.1185C>T (p.Asn395=) c.1059C>T (p.Asn353=) c.*517C>T (n.*517C>T) | |
16 | g.27362835C>A | CA395298985 | IL4R | c.1483C>A (p.Pro495Thr) c.1438C>A (p.Pro480Thr) c.230-1268C>A (n.230-1268C>A) c.*1526C>A (n.*1526C>A) c.1003C>A (p.Pro335Thr) c.592C>A (p.Pro198Thr) c.532C>A (p.Pro178Thr) c.1216C>A (p.Pro406Thr) c.1186C>A (p.Pro396Thr) c.1060C>A (p.Pro354Thr) c.*518C>A (n.*518C>A) | gnomAD v4 |
16 | g.27362835C>G | CA395298986 | IL4R | c.1483C>G (p.Pro495Ala) c.1438C>G (p.Pro480Ala) c.230-1268C>G (n.230-1268C>G) c.*1526C>G (n.*1526C>G) c.1003C>G (p.Pro335Ala) c.592C>G (p.Pro198Ala) c.532C>G (p.Pro178Ala) c.1216C>G (p.Pro406Ala) c.1186C>G (p.Pro396Ala) c.1060C>G (p.Pro354Ala) c.*518C>G (n.*518C>G) | |
16 | g.27362835C>T | CA395298987 | IL4R | c.1483C>T (p.Pro495Ser) c.1438C>T (p.Pro480Ser) c.230-1268C>T (n.230-1268C>T) c.*1526C>T (n.*1526C>T) c.1003C>T (p.Pro335Ser) c.592C>T (p.Pro198Ser) c.532C>T (p.Pro178Ser) c.1216C>T (p.Pro406Ser) c.1186C>T (p.Pro396Ser) c.1060C>T (p.Pro354Ser) c.*518C>T (n.*518C>T) | gnomAD v4 |
16 | g.27362836C>A | CA395298988 | IL4R | c.1484C>A (p.Pro495His) c.1439C>A (p.Pro480His) c.230-1267C>A (n.230-1267C>A) c.*1527C>A (n.*1527C>A) c.1004C>A (p.Pro335His) c.593C>A (p.Pro198His) c.533C>A (p.Pro178His) c.1217C>A (p.Pro406His) c.1187C>A (p.Pro396His) c.1061C>A (p.Pro354His) c.*519C>A (n.*519C>A) | |
16 | g.27362836C>G | CA395298989 | IL4R | c.1484C>G (p.Pro495Arg) c.1439C>G (p.Pro480Arg) c.230-1267C>G (n.230-1267C>G) c.*1527C>G (n.*1527C>G) c.1004C>G (p.Pro335Arg) c.593C>G (p.Pro198Arg) c.533C>G (p.Pro178Arg) c.1217C>G (p.Pro406Arg) c.1187C>G (p.Pro396Arg) c.1061C>G (p.Pro354Arg) c.*519C>G (n.*519C>G) | |
16 | g.27362836C>T | CA395298990 | IL4R | c.1484C>T (p.Pro495Leu) c.1439C>T (p.Pro480Leu) c.230-1267C>T (n.230-1267C>T) c.*1527C>T (n.*1527C>T) c.1004C>T (p.Pro335Leu) c.593C>T (p.Pro198Leu) c.533C>T (p.Pro178Leu) c.1217C>T (p.Pro406Leu) c.1187C>T (p.Pro396Leu) c.1061C>T (p.Pro354Leu) c.*519C>T (n.*519C>T) | |
16 | g.27362837T>A | CA494470158 | IL4R | c.1485T>A (p.Pro495=) c.1440T>A (p.Pro480=) c.230-1266T>A (n.230-1266T>A) c.*1528T>A (n.*1528T>A) c.1005T>A (p.Pro335=) c.594T>A (p.Pro198=) c.534T>A (p.Pro178=) c.1218T>A (p.Pro406=) c.1188T>A (p.Pro396=) c.1062T>A (p.Pro354=) c.*520T>A (n.*520T>A) | |
16 | g.27362837T>C | CA494470159 | IL4R | c.1485T>C (p.Pro495=) c.1440T>C (p.Pro480=) c.230-1266T>C (n.230-1266T>C) c.*1528T>C (n.*1528T>C) c.1005T>C (p.Pro335=) c.594T>C (p.Pro198=) c.534T>C (p.Pro178=) c.1218T>C (p.Pro406=) c.1188T>C (p.Pro396=) c.1062T>C (p.Pro354=) c.*520T>C (n.*520T>C) | |
16 | g.27362837T>G | CA494470160 | IL4R | c.1485T>G (p.Pro495=) c.1440T>G (p.Pro480=) c.230-1266T>G (n.230-1266T>G) c.*1528T>G (n.*1528T>G) c.1005T>G (p.Pro335=) c.594T>G (p.Pro198=) c.534T>G (p.Pro178=) c.1218T>G (p.Pro406=) c.1188T>G (p.Pro396=) c.1062T>G (p.Pro354=) c.*520T>G (n.*520T>G) | |
16 | g.27362838G>A | CA7974576 | IL4R | c.1486G>A (p.Ala496Thr) c.1441G>A (p.Ala481Thr) c.230-1265G>A (n.230-1265G>A) c.*1529G>A (n.*1529G>A) c.1006G>A (p.Ala336Thr) c.595G>A (p.Ala199Thr) c.535G>A (p.Ala179Thr) c.1219G>A (p.Ala407Thr) c.1189G>A (p.Ala397Thr) c.1063G>A (p.Ala355Thr) c.*521G>A (n.*521G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362838G>C | CA395298992 | IL4R | c.1486G>C (p.Ala496Pro) c.1441G>C (p.Ala481Pro) c.230-1265G>C (n.230-1265G>C) c.*1529G>C (n.*1529G>C) c.1006G>C (p.Ala336Pro) c.595G>C (p.Ala199Pro) c.535G>C (p.Ala179Pro) c.1219G>C (p.Ala407Pro) c.1189G>C (p.Ala397Pro) c.1063G>C (p.Ala355Pro) c.*521G>C (n.*521G>C) | |
16 | g.27362838G= | CA2215169856 | IL4R | c.1486G= (p.Ala496=) c.1441G= (p.Ala481=) c.230-1265G= (n.230-1265G=) c.*1529G= (n.*1529G=) c.1006G= (p.Ala336=) c.595G= (p.Ala199=) c.535G= (p.Ala179=) c.1219G= (p.Ala407=) c.1189G= (p.Ala397=) c.1063G= (p.Ala355=) c.*521G= (n.*521G=) | |
16 | g.27362838G>T | CA395298991 | IL4R | c.1486G>T (p.Ala496Ser) c.1441G>T (p.Ala481Ser) c.230-1265G>T (n.230-1265G>T) c.*1529G>T (n.*1529G>T) c.1006G>T (p.Ala336Ser) c.595G>T (p.Ala199Ser) c.535G>T (p.Ala179Ser) c.1219G>T (p.Ala407Ser) c.1189G>T (p.Ala397Ser) c.1063G>T (p.Ala355Ser) c.*521G>T (n.*521G>T) | |
16 | g.27362839C>A | CA395298993 | IL4R | c.1487C>A (p.Ala496Asp) c.1442C>A (p.Ala481Asp) c.230-1264C>A (n.230-1264C>A) c.*1530C>A (n.*1530C>A) c.1007C>A (p.Ala336Asp) c.596C>A (p.Ala199Asp) c.536C>A (p.Ala179Asp) c.1220C>A (p.Ala407Asp) c.1190C>A (p.Ala397Asp) c.1064C>A (p.Ala355Asp) c.*522C>A (n.*522C>A) | |
16 | g.27362839C>G | CA395298994 | IL4R | c.1487C>G (p.Ala496Gly) c.1442C>G (p.Ala481Gly) c.230-1264C>G (n.230-1264C>G) c.*1530C>G (n.*1530C>G) c.1007C>G (p.Ala336Gly) c.596C>G (p.Ala199Gly) c.536C>G (p.Ala179Gly) c.1220C>G (p.Ala407Gly) c.1190C>G (p.Ala397Gly) c.1064C>G (p.Ala355Gly) c.*522C>G (n.*522C>G) | |
16 | g.27362839C>T | CA395298995 | IL4R | c.1487C>T (p.Ala496Val) c.1442C>T (p.Ala481Val) c.230-1264C>T (n.230-1264C>T) c.*1530C>T (n.*1530C>T) c.1007C>T (p.Ala336Val) c.596C>T (p.Ala199Val) c.536C>T (p.Ala179Val) c.1220C>T (p.Ala407Val) c.1190C>T (p.Ala397Val) c.1064C>T (p.Ala355Val) c.*522C>T (n.*522C>T) | |
16 | g.27362840T>A | CA494470161 | IL4R | c.1488T>A (p.Ala496=) c.1443T>A (p.Ala481=) c.230-1263T>A (n.230-1263T>A) c.*1531T>A (n.*1531T>A) c.1008T>A (p.Ala336=) c.597T>A (p.Ala199=) c.537T>A (p.Ala179=) c.1221T>A (p.Ala407=) c.1191T>A (p.Ala397=) c.1065T>A (p.Ala355=) c.*523T>A (n.*523T>A) | |
16 | g.27362840T>C | CA494470162 | IL4R | c.1488T>C (p.Ala496=) c.1443T>C (p.Ala481=) c.230-1263T>C (n.230-1263T>C) c.*1531T>C (n.*1531T>C) c.1008T>C (p.Ala336=) c.597T>C (p.Ala199=) c.537T>C (p.Ala179=) c.1221T>C (p.Ala407=) c.1191T>C (p.Ala397=) c.1065T>C (p.Ala355=) c.*523T>C (n.*523T>C) | |
16 | g.27362840T>G | CA494470163 | IL4R | c.1488T>G (p.Ala496=) c.1443T>G (p.Ala481=) c.230-1263T>G (n.230-1263T>G) c.*1531T>G (n.*1531T>G) c.1008T>G (p.Ala336=) c.597T>G (p.Ala199=) c.537T>G (p.Ala179=) c.1221T>G (p.Ala407=) c.1191T>G (p.Ala397=) c.1065T>G (p.Ala355=) c.*523T>G (n.*523T>G) | |
16 | g.27362841T>A | CA395298996 | IL4R | c.1489T>A (p.Tyr497Asn) c.1444T>A (p.Tyr482Asn) c.230-1262T>A (n.230-1262T>A) c.*1532T>A (n.*1532T>A) c.1009T>A (p.Tyr337Asn) c.598T>A (p.Tyr200Asn) c.538T>A (p.Tyr180Asn) c.1222T>A (p.Tyr408Asn) c.1192T>A (p.Tyr398Asn) c.1066T>A (p.Tyr356Asn) c.*524T>A (n.*524T>A) | |
16 | g.27362841T>C | CA7974577 | IL4R | c.1489T>C (p.Tyr497His) c.1444T>C (p.Tyr482His) c.230-1262T>C (n.230-1262T>C) c.*1532T>C (n.*1532T>C) c.1009T>C (p.Tyr337His) c.598T>C (p.Tyr200His) c.538T>C (p.Tyr180His) c.1222T>C (p.Tyr408His) c.1192T>C (p.Tyr398His) c.1066T>C (p.Tyr356His) c.*524T>C (n.*524T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362841T>G | CA395298997 | IL4R | c.1489T>G (p.Tyr497Asp) c.1444T>G (p.Tyr482Asp) c.230-1262T>G (n.230-1262T>G) c.*1532T>G (n.*1532T>G) c.1009T>G (p.Tyr337Asp) c.598T>G (p.Tyr200Asp) c.538T>G (p.Tyr180Asp) c.1222T>G (p.Tyr408Asp) c.1192T>G (p.Tyr398Asp) c.1066T>G (p.Tyr356Asp) c.*524T>G (n.*524T>G) | |
16 | g.27362841T= | CA2215169858 | IL4R | c.1489T= (p.Tyr497=) c.1444T= (p.Tyr482=) c.230-1262T= (n.230-1262T=) c.*1532T= (n.*1532T=) c.1009T= (p.Tyr337=) c.598T= (p.Tyr200=) c.538T= (p.Tyr180=) c.1222T= (p.Tyr408=) c.1192T= (p.Tyr398=) c.1066T= (p.Tyr356=) c.*524T= (n.*524T=) | |
16 | g.27362842A>C | CA395299000 | IL4R | c.1490A>C (p.Tyr497Ser) c.1445A>C (p.Tyr482Ser) c.230-1261A>C (n.230-1261A>C) c.*1533A>C (n.*1533A>C) c.1010A>C (p.Tyr337Ser) c.599A>C (p.Tyr200Ser) c.539A>C (p.Tyr180Ser) c.1223A>C (p.Tyr408Ser) c.1193A>C (p.Tyr398Ser) c.1067A>C (p.Tyr356Ser) c.*525A>C (n.*525A>C) | gnomAD v4 |
16 | g.27362842A>G | CA395298998 | IL4R | c.1490A>G (p.Tyr497Cys) c.1445A>G (p.Tyr482Cys) c.230-1261A>G (n.230-1261A>G) c.*1533A>G (n.*1533A>G) c.1010A>G (p.Tyr337Cys) c.599A>G (p.Tyr200Cys) c.539A>G (p.Tyr180Cys) c.1223A>G (p.Tyr408Cys) c.1193A>G (p.Tyr398Cys) c.1067A>G (p.Tyr356Cys) c.*525A>G (n.*525A>G) | |
16 | g.27362842A>T | CA395298999 | IL4R | c.1490A>T (p.Tyr497Phe) c.1445A>T (p.Tyr482Phe) c.230-1261A>T (n.230-1261A>T) c.*1533A>T (n.*1533A>T) c.1010A>T (p.Tyr337Phe) c.599A>T (p.Tyr200Phe) c.539A>T (p.Tyr180Phe) c.1223A>T (p.Tyr408Phe) c.1193A>T (p.Tyr398Phe) c.1067A>T (p.Tyr356Phe) c.*525A>T (n.*525A>T) | |
16 | g.27362843C>A | CA395299001 | IL4R | c.1491C>A (p.Tyr497Ter) c.1446C>A (p.Tyr482Ter) c.230-1260C>A (n.230-1260C>A) c.*1534C>A (n.*1534C>A) c.1011C>A (p.Tyr337Ter) c.600C>A (p.Tyr200Ter) c.540C>A (p.Tyr180Ter) c.1224C>A (p.Tyr408Ter) c.1194C>A (p.Tyr398Ter) c.1068C>A (p.Tyr356Ter) c.*526C>A (n.*526C>A) | |
16 | g.27362843C= | CA2215169860 | IL4R | c.1491C= (p.Tyr497=) c.1446C= (p.Tyr482=) c.230-1260C= (n.230-1260C=) c.*1534C= (n.*1534C=) c.1011C= (p.Tyr337=) c.600C= (p.Tyr200=) c.540C= (p.Tyr180=) c.1224C= (p.Tyr408=) c.1194C= (p.Tyr398=) c.1068C= (p.Tyr356=) c.*526C= (n.*526C=) | |
16 | g.27362843C>G | CA395299002 | IL4R | c.1491C>G (p.Tyr497Ter) c.1446C>G (p.Tyr482Ter) c.230-1260C>G (n.230-1260C>G) c.*1534C>G (n.*1534C>G) c.1011C>G (p.Tyr337Ter) c.600C>G (p.Tyr200Ter) c.540C>G (p.Tyr180Ter) c.1224C>G (p.Tyr408Ter) c.1194C>G (p.Tyr398Ter) c.1068C>G (p.Tyr356Ter) c.*526C>G (n.*526C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362843C>T | CA494470164 | IL4R | c.1491C>T (p.Tyr497=) c.1446C>T (p.Tyr482=) c.230-1260C>T (n.230-1260C>T) c.*1534C>T (n.*1534C>T) c.1011C>T (p.Tyr337=) c.600C>T (p.Tyr200=) c.540C>T (p.Tyr180=) c.1224C>T (p.Tyr408=) c.1194C>T (p.Tyr398=) c.1068C>T (p.Tyr356=) c.*526C>T (n.*526C>T) | |
16 | g.27362844C>A | CA395299003 | IL4R | c.1492C>A (p.Arg498Ser) c.1447C>A (p.Arg483Ser) c.230-1259C>A (n.230-1259C>A) c.*1535C>A (n.*1535C>A) c.1012C>A (p.Arg338Ser) c.601C>A (p.Arg201Ser) c.541C>A (p.Arg181Ser) c.1225C>A (p.Arg409Ser) c.1195C>A (p.Arg399Ser) c.1069C>A (p.Arg357Ser) c.*527C>A (n.*527C>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362844C= | CA2215169862 | IL4R | c.1492C= (p.Arg498=) c.1447C= (p.Arg483=) c.230-1259C= (n.230-1259C=) c.*1535C= (n.*1535C=) c.1012C= (p.Arg338=) c.601C= (p.Arg201=) c.541C= (p.Arg181=) c.1225C= (p.Arg409=) c.1195C= (p.Arg399=) c.1069C= (p.Arg357=) c.*527C= (n.*527C=) | |
16 | g.27362844C>G | CA395299004 | IL4R | c.1492C>G (p.Arg498Gly) c.1447C>G (p.Arg483Gly) c.230-1259C>G (n.230-1259C>G) c.*1535C>G (n.*1535C>G) c.1012C>G (p.Arg338Gly) c.601C>G (p.Arg201Gly) c.541C>G (p.Arg181Gly) c.1225C>G (p.Arg409Gly) c.1195C>G (p.Arg399Gly) c.1069C>G (p.Arg357Gly) c.*527C>G (n.*527C>G) | |
16 | g.27362844C>T | CA7974578 | IL4R | c.1492C>T (p.Arg498Cys) c.1447C>T (p.Arg483Cys) c.230-1259C>T (n.230-1259C>T) c.*1535C>T (n.*1535C>T) c.1012C>T (p.Arg338Cys) c.601C>T (p.Arg201Cys) c.541C>T (p.Arg181Cys) c.1225C>T (p.Arg409Cys) c.1195C>T (p.Arg399Cys) c.1069C>T (p.Arg357Cys) c.*527C>T (n.*527C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362845G>A | CA7974579 | IL4R | c.1493G>A (p.Arg498His) c.1448G>A (p.Arg483His) c.230-1258G>A (n.230-1258G>A) c.*1536G>A (n.*1536G>A) c.1013G>A (p.Arg338His) c.602G>A (p.Arg201His) c.542G>A (p.Arg181His) c.1226G>A (p.Arg409His) c.1196G>A (p.Arg399His) c.1070G>A (p.Arg357His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362845G>C | CA395299006 | IL4R | c.1493G>C (p.Arg498Pro) c.1448G>C (p.Arg483Pro) c.230-1258G>C (n.230-1258G>C) c.*1536G>C (n.*1536G>C) c.1013G>C (p.Arg338Pro) c.602G>C (p.Arg201Pro) c.542G>C (p.Arg181Pro) c.1226G>C (p.Arg409Pro) c.1196G>C (p.Arg399Pro) c.1070G>C (p.Arg357Pro) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362845G= | CA2215169866 | IL4R | c.1493G= (p.Arg498=) c.1448G= (p.Arg483=) c.230-1258G= (n.230-1258G=) c.*1536G= (n.*1536G=) c.1013G= (p.Arg338=) c.602G= (p.Arg201=) c.542G= (p.Arg181=) c.1226G= (p.Arg409=) c.1196G= (p.Arg399=) c.1070G= (p.Arg357=) | |
16 | g.27362845G>T | CA395299005 | IL4R | c.1493G>T (p.Arg498Leu) c.1448G>T (p.Arg483Leu) c.230-1258G>T (n.230-1258G>T) c.*1536G>T (n.*1536G>T) c.1013G>T (p.Arg338Leu) c.602G>T (p.Arg201Leu) c.542G>T (p.Arg181Leu) c.1226G>T (p.Arg409Leu) c.1196G>T (p.Arg399Leu) c.1070G>T (p.Arg357Leu) | |
16 | g.27362846C>A | CA494470165 | IL4R | c.1494C>A (p.Arg498=) c.1449C>A (p.Arg483=) c.230-1257C>A (n.230-1257C>A) c.*1537C>A (n.*1537C>A) c.1014C>A (p.Arg338=) c.603C>A (p.Arg201=) c.543C>A (p.Arg181=) c.1227C>A (p.Arg409=) c.1197C>A (p.Arg399=) c.1071C>A (p.Arg357=) | |
16 | g.27362846C>G | CA494470166 | IL4R | c.1494C>G (p.Arg498=) c.1449C>G (p.Arg483=) c.230-1257C>G (n.230-1257C>G) c.*1537C>G (n.*1537C>G) c.1014C>G (p.Arg338=) c.603C>G (p.Arg201=) c.543C>G (p.Arg181=) c.1227C>G (p.Arg409=) c.1197C>G (p.Arg399=) c.1071C>G (p.Arg357=) | |
16 | g.27362846C>T | CA494470167 | IL4R | c.1494C>T (p.Arg498=) c.1449C>T (p.Arg483=) c.230-1257C>T (n.230-1257C>T) c.*1537C>T (n.*1537C>T) c.1014C>T (p.Arg338=) c.603C>T (p.Arg201=) c.543C>T (p.Arg181=) c.1227C>T (p.Arg409=) c.1197C>T (p.Arg399=) c.1071C>T (p.Arg357=) | |
16 | g.27362847A>C | CA395299007 | IL4R | c.1495A>C (p.Ser499Arg) c.1450A>C (p.Ser484Arg) c.230-1256A>C (n.230-1256A>C) c.*1538A>C (n.*1538A>C) c.1015A>C (p.Ser339Arg) c.604A>C (p.Ser202Arg) c.544A>C (p.Ser182Arg) c.1228A>C (p.Ser410Arg) c.1198A>C (p.Ser400Arg) c.1072A>C (p.Ser358Arg) | |
16 | g.27362847A>G | CA395299008 | IL4R | c.1495A>G (p.Ser499Gly) c.1450A>G (p.Ser484Gly) c.230-1256A>G (n.230-1256A>G) c.*1538A>G (n.*1538A>G) c.1015A>G (p.Ser339Gly) c.604A>G (p.Ser202Gly) c.544A>G (p.Ser182Gly) c.1228A>G (p.Ser410Gly) c.1198A>G (p.Ser400Gly) c.1072A>G (p.Ser358Gly) | |
16 | g.27362847A>T | CA395299009 | IL4R | c.1495A>T (p.Ser499Cys) c.1450A>T (p.Ser484Cys) c.230-1256A>T (n.230-1256A>T) c.*1538A>T (n.*1538A>T) c.1015A>T (p.Ser339Cys) c.604A>T (p.Ser202Cys) c.544A>T (p.Ser182Cys) c.1228A>T (p.Ser410Cys) c.1198A>T (p.Ser400Cys) c.1072A>T (p.Ser358Cys) | |
16 | g.27362848G>A | CA395299010 | IL4R | c.1496G>A (p.Ser499Asn) c.1451G>A (p.Ser484Asn) c.230-1255G>A (n.230-1255G>A) c.*1539G>A (n.*1539G>A) c.1016G>A (p.Ser339Asn) c.605G>A (p.Ser202Asn) c.545G>A (p.Ser182Asn) c.1229G>A (p.Ser410Asn) c.1199G>A (p.Ser400Asn) c.1073G>A (p.Ser358Asn) | |
16 | g.27362848G>C | CA395299011 | IL4R | c.1496G>C (p.Ser499Thr) c.1451G>C (p.Ser484Thr) c.230-1255G>C (n.230-1255G>C) c.*1539G>C (n.*1539G>C) c.1016G>C (p.Ser339Thr) c.605G>C (p.Ser202Thr) c.545G>C (p.Ser182Thr) c.1229G>C (p.Ser410Thr) c.1199G>C (p.Ser400Thr) c.1073G>C (p.Ser358Thr) | |
16 | g.27362848G>T | CA395299012 | IL4R | c.1496G>T (p.Ser499Ile) c.1451G>T (p.Ser484Ile) c.230-1255G>T (n.230-1255G>T) c.*1539G>T (n.*1539G>T) c.1016G>T (p.Ser339Ile) c.605G>T (p.Ser202Ile) c.545G>T (p.Ser182Ile) c.1229G>T (p.Ser410Ile) c.1199G>T (p.Ser400Ile) c.1073G>T (p.Ser358Ile) | gnomAD v4 |
16 | g.27362849C>A | CA395299013 | IL4R | c.1497C>A (p.Ser499Arg) c.1452C>A (p.Ser484Arg) c.230-1254C>A (n.230-1254C>A) c.*1540C>A (n.*1540C>A) c.1017C>A (p.Ser339Arg) c.606C>A (p.Ser202Arg) c.546C>A (p.Ser182Arg) c.1230C>A (p.Ser410Arg) c.1200C>A (p.Ser400Arg) c.1074C>A (p.Ser358Arg) | |
16 | g.27362849C>G | CA395299014 | IL4R | c.1497C>G (p.Ser499Arg) c.1452C>G (p.Ser484Arg) c.230-1254C>G (n.230-1254C>G) c.*1540C>G (n.*1540C>G) c.1017C>G (p.Ser339Arg) c.606C>G (p.Ser202Arg) c.546C>G (p.Ser182Arg) c.1230C>G (p.Ser410Arg) c.1200C>G (p.Ser400Arg) c.1074C>G (p.Ser358Arg) | |
16 | g.27362849C>T | CA494470168 | IL4R | c.1497C>T (p.Ser499=) c.1452C>T (p.Ser484=) c.230-1254C>T (n.230-1254C>T) c.*1540C>T (n.*1540C>T) c.1017C>T (p.Ser339=) c.606C>T (p.Ser202=) c.546C>T (p.Ser182=) c.1230C>T (p.Ser410=) c.1200C>T (p.Ser400=) c.1074C>T (p.Ser358=) | |
16 | g.27362850T>A | CA395299015 | IL4R | c.1498T>A (p.Phe500Ile) c.1453T>A (p.Phe485Ile) c.230-1253T>A (n.230-1253T>A) c.*1541T>A (n.*1541T>A) c.1018T>A (p.Phe340Ile) c.607T>A (p.Phe203Ile) c.547T>A (p.Phe183Ile) c.1231T>A (p.Phe411Ile) c.1201T>A (p.Phe401Ile) c.1075T>A (p.Phe359Ile) | |
16 | g.27362850T>C | CA395299016 | IL4R | c.1498T>C (p.Phe500Leu) c.1453T>C (p.Phe485Leu) c.230-1253T>C (n.230-1253T>C) c.*1541T>C (n.*1541T>C) c.1018T>C (p.Phe340Leu) c.607T>C (p.Phe203Leu) c.547T>C (p.Phe183Leu) c.1231T>C (p.Phe411Leu) c.1201T>C (p.Phe401Leu) c.1075T>C (p.Phe359Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362850T>G | CA395299017 | IL4R | c.1498T>G (p.Phe500Val) c.1453T>G (p.Phe485Val) c.230-1253T>G (n.230-1253T>G) c.*1541T>G (n.*1541T>G) c.1018T>G (p.Phe340Val) c.607T>G (p.Phe203Val) c.547T>G (p.Phe183Val) c.1231T>G (p.Phe411Val) c.1201T>G (p.Phe401Val) c.1075T>G (p.Phe359Val) | |
16 | g.27362850T= | CA2215169869 | IL4R | c.1498T= (p.Phe500=) c.1453T= (p.Phe485=) c.230-1253T= (n.230-1253T=) c.*1541T= (n.*1541T=) c.1018T= (p.Phe340=) c.607T= (p.Phe203=) c.547T= (p.Phe183=) c.1231T= (p.Phe411=) c.1201T= (p.Phe401=) c.1075T= (p.Phe359=) | |
16 | g.27362851T>A | CA395299020 | IL4R | c.1499T>A (p.Phe500Tyr) c.1454T>A (p.Phe485Tyr) c.230-1252T>A (n.230-1252T>A) c.*1542T>A (n.*1542T>A) c.1019T>A (p.Phe340Tyr) c.608T>A (p.Phe203Tyr) c.548T>A (p.Phe183Tyr) c.1232T>A (p.Phe411Tyr) c.1202T>A (p.Phe401Tyr) c.1076T>A (p.Phe359Tyr) | |
16 | g.27362851T>C | CA395299019 | IL4R | c.1499T>C (p.Phe500Ser) c.1454T>C (p.Phe485Ser) c.230-1252T>C (n.230-1252T>C) c.*1542T>C (n.*1542T>C) c.1019T>C (p.Phe340Ser) c.608T>C (p.Phe203Ser) c.548T>C (p.Phe183Ser) c.1232T>C (p.Phe411Ser) c.1202T>C (p.Phe401Ser) c.1076T>C (p.Phe359Ser) | |
16 | g.27362851T>G | CA395299018 | IL4R | c.1499T>G (p.Phe500Cys) c.1454T>G (p.Phe485Cys) c.230-1252T>G (n.230-1252T>G) c.*1542T>G (n.*1542T>G) c.1019T>G (p.Phe340Cys) c.608T>G (p.Phe203Cys) c.548T>G (p.Phe183Cys) c.1232T>G (p.Phe411Cys) c.1202T>G (p.Phe401Cys) c.1076T>G (p.Phe359Cys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362851T= | CA2215169870 | IL4R | c.1499T= (p.Phe500=) c.1454T= (p.Phe485=) c.230-1252T= (n.230-1252T=) c.*1542T= (n.*1542T=) c.1019T= (p.Phe340=) c.608T= (p.Phe203=) c.548T= (p.Phe183=) c.1232T= (p.Phe411=) c.1202T= (p.Phe401=) c.1076T= (p.Phe359=) | |
16 | g.27362852C>A | CA395299022 | IL4R | c.1500C>A (p.Phe500Leu) c.1455C>A (p.Phe485Leu) c.230-1251C>A (n.230-1251C>A) c.*1543C>A (n.*1543C>A) c.1020C>A (p.Phe340Leu) c.609C>A (p.Phe203Leu) c.549C>A (p.Phe183Leu) c.1233C>A (p.Phe411Leu) c.1203C>A (p.Phe401Leu) c.1077C>A (p.Phe359Leu) | |
16 | g.27362852C>G | CA395299021 | IL4R | c.1500C>G (p.Phe500Leu) c.1455C>G (p.Phe485Leu) c.230-1251C>G (n.230-1251C>G) c.*1543C>G (n.*1543C>G) c.1020C>G (p.Phe340Leu) c.609C>G (p.Phe203Leu) c.549C>G (p.Phe183Leu) c.1233C>G (p.Phe411Leu) c.1203C>G (p.Phe401Leu) c.1077C>G (p.Phe359Leu) | |
16 | g.27362852C>T | CA494470169 | IL4R | c.1500C>T (p.Phe500=) c.1455C>T (p.Phe485=) c.230-1251C>T (n.230-1251C>T) c.*1543C>T (n.*1543C>T) c.1020C>T (p.Phe340=) c.609C>T (p.Phe203=) c.549C>T (p.Phe183=) c.1233C>T (p.Phe411=) c.1203C>T (p.Phe401=) c.1077C>T (p.Phe359=) | |
16 | g.27362853A>C | CA395299024 | IL4R | c.1501A>C (p.Ser501Arg) c.1456A>C (p.Ser486Arg) c.230-1250A>C (n.230-1250A>C) c.*1544A>C (n.*1544A>C) c.1021A>C (p.Ser341Arg) c.610A>C (p.Ser204Arg) c.550A>C (p.Ser184Arg) c.1234A>C (p.Ser412Arg) c.1204A>C (p.Ser402Arg) c.1078A>C (p.Ser360Arg) | |
16 | g.27362853A>G | CA395299023 | IL4R | c.1501A>G (p.Ser501Gly) c.1456A>G (p.Ser486Gly) c.230-1250A>G (n.230-1250A>G) c.*1544A>G (n.*1544A>G) c.1021A>G (p.Ser341Gly) c.610A>G (p.Ser204Gly) c.550A>G (p.Ser184Gly) c.1234A>G (p.Ser412Gly) c.1204A>G (p.Ser402Gly) c.1078A>G (p.Ser360Gly) | |
16 | g.27362853A>T | CA395299025 | IL4R | c.1501A>T (p.Ser501Cys) c.1456A>T (p.Ser486Cys) c.230-1250A>T (n.230-1250A>T) c.*1544A>T (n.*1544A>T) c.1021A>T (p.Ser341Cys) c.610A>T (p.Ser204Cys) c.550A>T (p.Ser184Cys) c.1234A>T (p.Ser412Cys) c.1204A>T (p.Ser402Cys) c.1078A>T (p.Ser360Cys) | |
16 | g.27362854G>A | CA395299026 | IL4R | c.1502G>A (p.Ser501Asn) c.1457G>A (p.Ser486Asn) c.230-1249G>A (n.230-1249G>A) c.*1545G>A (n.*1545G>A) c.1022G>A (p.Ser341Asn) c.611G>A (p.Ser204Asn) c.551G>A (p.Ser184Asn) c.1235G>A (p.Ser412Asn) c.1205G>A (p.Ser402Asn) c.1079G>A (p.Ser360Asn) | dbSNP |
16 | g.27362854G>C | CA395299027 | IL4R | c.1502G>C (p.Ser501Thr) c.1457G>C (p.Ser486Thr) c.230-1249G>C (n.230-1249G>C) c.*1545G>C (n.*1545G>C) c.1022G>C (p.Ser341Thr) c.611G>C (p.Ser204Thr) c.551G>C (p.Ser184Thr) c.1235G>C (p.Ser412Thr) c.1205G>C (p.Ser402Thr) c.1079G>C (p.Ser360Thr) | |
16 | g.27362854G= | CA2215169872 | IL4R | c.1502G= (p.Ser501=) c.1457G= (p.Ser486=) c.230-1249G= (n.230-1249G=) c.*1545G= (n.*1545G=) c.1022G= (p.Ser341=) c.611G= (p.Ser204=) c.551G= (p.Ser184=) c.1235G= (p.Ser412=) c.1205G= (p.Ser402=) c.1079G= (p.Ser360=) | |
16 | g.27362854G>T | CA395299028 | IL4R | c.1502G>T (p.Ser501Ile) c.1457G>T (p.Ser486Ile) c.230-1249G>T (n.230-1249G>T) c.*1545G>T (n.*1545G>T) c.1022G>T (p.Ser341Ile) c.611G>T (p.Ser204Ile) c.551G>T (p.Ser184Ile) c.1235G>T (p.Ser412Ile) c.1205G>T (p.Ser402Ile) c.1079G>T (p.Ser360Ile) | |
16 | g.27362855C>A | CA395299029 | IL4R | c.1503C>A (p.Ser501Arg) c.1458C>A (p.Ser486Arg) c.230-1248C>A (n.230-1248C>A) c.*1546C>A (n.*1546C>A) c.1023C>A (p.Ser341Arg) c.612C>A (p.Ser204Arg) c.552C>A (p.Ser184Arg) c.1236C>A (p.Ser412Arg) c.1206C>A (p.Ser402Arg) c.1080C>A (p.Ser360Arg) | |
16 | g.27362855C>G | CA395299030 | IL4R | c.1503C>G (p.Ser501Arg) c.1458C>G (p.Ser486Arg) c.230-1248C>G (n.230-1248C>G) c.*1546C>G (n.*1546C>G) c.1023C>G (p.Ser341Arg) c.612C>G (p.Ser204Arg) c.552C>G (p.Ser184Arg) c.1236C>G (p.Ser412Arg) c.1206C>G (p.Ser402Arg) c.1080C>G (p.Ser360Arg) | |
16 | g.27362855C>T | CA494470170 | IL4R | c.1503C>T (p.Ser501=) c.1458C>T (p.Ser486=) c.230-1248C>T (n.230-1248C>T) c.*1546C>T (n.*1546C>T) c.1023C>T (p.Ser341=) c.612C>T (p.Ser204=) c.552C>T (p.Ser184=) c.1236C>T (p.Ser412=) c.1206C>T (p.Ser402=) c.1080C>T (p.Ser360=) | gnomAD v4 |
16 | g.27362856A>C | CA395299031 | IL4R | c.1504A>C (p.Asn502His) c.1459A>C (p.Asn487His) c.230-1247A>C (n.230-1247A>C) c.*1547A>C (n.*1547A>C) c.1024A>C (p.Asn342His) c.613A>C (p.Asn205His) c.553A>C (p.Asn185His) c.1237A>C (p.Asn413His) c.1207A>C (p.Asn403His) c.1081A>C (p.Asn361His) | |
16 | g.27362856A>G | CA395299032 | IL4R | c.1504A>G (p.Asn502Asp) c.1459A>G (p.Asn487Asp) c.230-1247A>G (n.230-1247A>G) c.*1547A>G (n.*1547A>G) c.1024A>G (p.Asn342Asp) c.613A>G (p.Asn205Asp) c.553A>G (p.Asn185Asp) c.1237A>G (p.Asn413Asp) c.1207A>G (p.Asn403Asp) c.1081A>G (p.Asn361Asp) | |
16 | g.27362856A>T | CA395299033 | IL4R | c.1504A>T (p.Asn502Tyr) c.1459A>T (p.Asn487Tyr) c.230-1247A>T (n.230-1247A>T) c.*1547A>T (n.*1547A>T) c.1024A>T (p.Asn342Tyr) c.613A>T (p.Asn205Tyr) c.553A>T (p.Asn185Tyr) c.1237A>T (p.Asn413Tyr) c.1207A>T (p.Asn403Tyr) c.1081A>T (p.Asn361Tyr) | |
16 | g.27362857A= | CA2215169873 | IL4R | c.1505A= (p.Asn502=) c.1460A= (p.Asn487=) c.230-1246A= (n.230-1246A=) c.*1548A= (n.*1548A=) c.1025A= (p.Asn342=) c.614A= (p.Asn205=) c.554A= (p.Asn185=) c.1238A= (p.Asn413=) c.1208A= (p.Asn403=) c.1082A= (p.Asn361=) | |
16 | g.27362857A>C | CA395299034 | IL4R | c.1505A>C (p.Asn502Thr) c.1460A>C (p.Asn487Thr) c.230-1246A>C (n.230-1246A>C) c.*1548A>C (n.*1548A>C) c.1025A>C (p.Asn342Thr) c.614A>C (p.Asn205Thr) c.554A>C (p.Asn185Thr) c.1238A>C (p.Asn413Thr) c.1208A>C (p.Asn403Thr) c.1082A>C (p.Asn361Thr) | |
16 | g.27362857A>G | CA7974580 | IL4R | c.1505A>G (p.Asn502Ser) c.1460A>G (p.Asn487Ser) c.230-1246A>G (n.230-1246A>G) c.*1548A>G (n.*1548A>G) c.1025A>G (p.Asn342Ser) c.614A>G (p.Asn205Ser) c.554A>G (p.Asn185Ser) c.1238A>G (p.Asn413Ser) c.1208A>G (p.Asn403Ser) c.1082A>G (p.Asn361Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362857A>T | CA395299035 | IL4R | c.1505A>T (p.Asn502Ile) c.1460A>T (p.Asn487Ile) c.230-1246A>T (n.230-1246A>T) c.*1548A>T (n.*1548A>T) c.1025A>T (p.Asn342Ile) c.614A>T (p.Asn205Ile) c.554A>T (p.Asn185Ile) c.1238A>T (p.Asn413Ile) c.1208A>T (p.Asn403Ile) c.1082A>T (p.Asn361Ile) | |
16 | g.27362858C>A | CA395299036 | IL4R | c.1506C>A (p.Asn502Lys) c.1461C>A (p.Asn487Lys) c.230-1245C>A (n.230-1245C>A) c.*1549C>A (n.*1549C>A) c.1026C>A (p.Asn342Lys) c.615C>A (p.Asn205Lys) c.555C>A (p.Asn185Lys) c.1239C>A (p.Asn413Lys) c.1209C>A (p.Asn403Lys) c.1083C>A (p.Asn361Lys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362858C= | CA2215169874 | IL4R | c.1506C= (p.Asn502=) c.1461C= (p.Asn487=) c.230-1245C= (n.230-1245C=) c.*1549C= (n.*1549C=) c.1026C= (p.Asn342=) c.615C= (p.Asn205=) c.555C= (p.Asn185=) c.1239C= (p.Asn413=) c.1209C= (p.Asn403=) c.1083C= (p.Asn361=) | |
16 | g.27362858C>G | CA395299037 | IL4R | c.1506C>G (p.Asn502Lys) c.1461C>G (p.Asn487Lys) c.230-1245C>G (n.230-1245C>G) c.*1549C>G (n.*1549C>G) c.1026C>G (p.Asn342Lys) c.615C>G (p.Asn205Lys) c.555C>G (p.Asn185Lys) c.1239C>G (p.Asn413Lys) c.1209C>G (p.Asn403Lys) c.1083C>G (p.Asn361Lys) | |
16 | g.27362858C>T | CA494470171 | IL4R | c.1506C>T (p.Asn502=) c.1461C>T (p.Asn487=) c.230-1245C>T (n.230-1245C>T) c.*1549C>T (n.*1549C>T) c.1026C>T (p.Asn342=) c.615C>T (p.Asn205=) c.555C>T (p.Asn185=) c.1239C>T (p.Asn413=) c.1209C>T (p.Asn403=) c.1083C>T (p.Asn361=) | |
16 | g.27362859del | CA2632431260 | IL4R | c.1507del (p.Ser503ProfsTer2) c.1462del (p.Ser488ProfsTer2) c.230-1244del (n.230-1244del) c.*1550del (n.*1550del) c.1027del (p.Ser343ProfsTer2) c.616del (p.Ser206ProfsTer2) c.556del (p.Ser186ProfsTer2) c.1240del (p.Ser414ProfsTer2) c.1210del (p.Ser404ProfsTer2) c.1084del (p.Ser362ProfsTer2) | gnomAD v4 |
16 | g.27362859T>A | CA395299039 | IL4R | c.1507T>A (p.Ser503Thr) c.1462T>A (p.Ser488Thr) c.230-1244T>A (n.230-1244T>A) c.*1550T>A (n.*1550T>A) c.1027T>A (p.Ser343Thr) c.616T>A (p.Ser206Thr) c.556T>A (p.Ser186Thr) c.1240T>A (p.Ser414Thr) c.1210T>A (p.Ser404Thr) c.1084T>A (p.Ser362Thr) | |
16 | g.27362859T>C | CA124192 | IL4R | c.1507T>C (p.Ser503Pro) c.1462T>C (p.Ser488Pro) c.230-1244T>C (n.230-1244T>C) c.*1550T>C (n.*1550T>C) c.1027T>C (p.Ser343Pro) c.616T>C (p.Ser206Pro) c.556T>C (p.Ser186Pro) c.1240T>C (p.Ser414Pro) c.1210T>C (p.Ser404Pro) c.1084T>C (p.Ser362Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362859T>G | CA395299038 | IL4R | c.1507T>G (p.Ser503Ala) c.1462T>G (p.Ser488Ala) c.230-1244T>G (n.230-1244T>G) c.*1550T>G (n.*1550T>G) c.1027T>G (p.Ser343Ala) c.616T>G (p.Ser206Ala) c.556T>G (p.Ser186Ala) c.1240T>G (p.Ser414Ala) c.1210T>G (p.Ser404Ala) c.1084T>G (p.Ser362Ala) | |
16 | g.27362859T= | CA2215169879 | IL4R | c.1507T= (p.Ser503=) c.1462T= (p.Ser488=) c.230-1244T= (n.230-1244T=) c.*1550T= (n.*1550T=) c.1027T= (p.Ser343=) c.616T= (p.Ser206=) c.556T= (p.Ser186=) c.1240T= (p.Ser414=) c.1210T= (p.Ser404=) c.1084T= (p.Ser362=) | |
16 | g.27362860C>A | CA395299040 | IL4R | c.1508C>A (p.Ser503Tyr) c.1463C>A (p.Ser488Tyr) c.230-1243C>A (n.230-1243C>A) c.*1551C>A (n.*1551C>A) c.1028C>A (p.Ser343Tyr) c.617C>A (p.Ser206Tyr) c.557C>A (p.Ser186Tyr) c.1241C>A (p.Ser414Tyr) c.1211C>A (p.Ser404Tyr) c.1085C>A (p.Ser362Tyr) | |
16 | g.27362860C>G | CA395299041 | IL4R | c.1508C>G (p.Ser503Cys) c.1463C>G (p.Ser488Cys) c.230-1243C>G (n.230-1243C>G) c.*1551C>G (n.*1551C>G) c.1028C>G (p.Ser343Cys) c.617C>G (p.Ser206Cys) c.557C>G (p.Ser186Cys) c.1241C>G (p.Ser414Cys) c.1211C>G (p.Ser404Cys) c.1085C>G (p.Ser362Cys) | |
16 | g.27362860C>T | CA395299042 | IL4R | c.1508C>T (p.Ser503Phe) c.1463C>T (p.Ser488Phe) c.230-1243C>T (n.230-1243C>T) c.*1551C>T (n.*1551C>T) c.1028C>T (p.Ser343Phe) c.617C>T (p.Ser206Phe) c.557C>T (p.Ser186Phe) c.1241C>T (p.Ser414Phe) c.1211C>T (p.Ser404Phe) c.1085C>T (p.Ser362Phe) | gnomAD v4 COSMIC |
16 | g.27362861C>A | CA494470172 | IL4R | c.1509C>A (p.Ser503=) c.1464C>A (p.Ser488=) c.230-1242C>A (n.230-1242C>A) c.*1552C>A (n.*1552C>A) c.1029C>A (p.Ser343=) c.618C>A (p.Ser206=) c.558C>A (p.Ser186=) c.1242C>A (p.Ser414=) c.1212C>A (p.Ser404=) c.1086C>A (p.Ser362=) | |
16 | g.27362861C>G | CA494470173 | IL4R | c.1509C>G (p.Ser503=) c.1464C>G (p.Ser488=) c.230-1242C>G (n.230-1242C>G) c.*1552C>G (n.*1552C>G) c.1029C>G (p.Ser343=) c.618C>G (p.Ser206=) c.558C>G (p.Ser186=) c.1242C>G (p.Ser414=) c.1212C>G (p.Ser404=) c.1086C>G (p.Ser362=) | gnomAD v4 |
16 | g.27362861C>T | CA494470174 | IL4R | c.1509C>T (p.Ser503=) c.1464C>T (p.Ser488=) c.230-1242C>T (n.230-1242C>T) c.*1552C>T (n.*1552C>T) c.1029C>T (p.Ser343=) c.618C>T (p.Ser206=) c.558C>T (p.Ser186=) c.1242C>T (p.Ser414=) c.1212C>T (p.Ser404=) c.1086C>T (p.Ser362=) | |
16 | g.27362862C>A | CA395299043 | IL4R | c.1510C>A (p.Leu504Met) c.1465C>A (p.Leu489Met) c.230-1241C>A (n.230-1241C>A) c.*1553C>A (n.*1553C>A) c.1030C>A (p.Leu344Met) c.619C>A (p.Leu207Met) c.559C>A (p.Leu187Met) c.1243C>A (p.Leu415Met) c.1213C>A (p.Leu405Met) c.1087C>A (p.Leu363Met) | |
16 | g.27362862C= | CA2215169883 | IL4R | c.1510C= (p.Leu504=) c.1465C= (p.Leu489=) c.230-1241C= (n.230-1241C=) c.*1553C= (n.*1553C=) c.1030C= (p.Leu344=) c.619C= (p.Leu207=) c.559C= (p.Leu187=) c.1243C= (p.Leu415=) c.1213C= (p.Leu405=) c.1087C= (p.Leu363=) | |
16 | g.27362862C>G | CA7974582 | IL4R | c.1510C>G (p.Leu504Val) c.1465C>G (p.Leu489Val) c.230-1241C>G (n.230-1241C>G) c.*1553C>G (n.*1553C>G) c.1030C>G (p.Leu344Val) c.619C>G (p.Leu207Val) c.559C>G (p.Leu187Val) c.1243C>G (p.Leu415Val) c.1213C>G (p.Leu405Val) c.1087C>G (p.Leu363Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362862C>T | CA7974581 | IL4R | c.1510C>T (p.Leu504=) c.1465C>T (p.Leu489=) c.230-1241C>T (n.230-1241C>T) c.*1553C>T (n.*1553C>T) c.1030C>T (p.Leu344=) c.619C>T (p.Leu207=) c.559C>T (p.Leu187=) c.1243C>T (p.Leu415=) c.1213C>T (p.Leu405=) c.1087C>T (p.Leu363=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362863T>A | CA395299044 | IL4R | c.1511T>A (p.Leu504Gln) c.1466T>A (p.Leu489Gln) c.230-1240T>A (n.230-1240T>A) c.*1554T>A (n.*1554T>A) c.1031T>A (p.Leu344Gln) c.620T>A (p.Leu207Gln) c.560T>A (p.Leu187Gln) c.1244T>A (p.Leu415Gln) c.1214T>A (p.Leu405Gln) c.1088T>A (p.Leu363Gln) | dbSNP |
16 | g.27362863T>C | CA395299045 | IL4R | c.1511T>C (p.Leu504Pro) c.1466T>C (p.Leu489Pro) c.230-1240T>C (n.230-1240T>C) c.*1554T>C (n.*1554T>C) c.1031T>C (p.Leu344Pro) c.620T>C (p.Leu207Pro) c.560T>C (p.Leu187Pro) c.1244T>C (p.Leu415Pro) c.1214T>C (p.Leu405Pro) c.1088T>C (p.Leu363Pro) | gnomAD v4 |
16 | g.27362863T>G | CA395299046 | IL4R | c.1511T>G (p.Leu504Arg) c.1466T>G (p.Leu489Arg) c.230-1240T>G (n.230-1240T>G) c.*1554T>G (n.*1554T>G) c.1031T>G (p.Leu344Arg) c.620T>G (p.Leu207Arg) c.560T>G (p.Leu187Arg) c.1244T>G (p.Leu415Arg) c.1214T>G (p.Leu405Arg) c.1088T>G (p.Leu363Arg) | |
16 | g.27362864G>A | CA494470176 | IL4R | c.1512G>A (p.Leu504=) c.1467G>A (p.Leu489=) c.230-1239G>A (n.230-1239G>A) c.*1555G>A (n.*1555G>A) c.1032G>A (p.Leu344=) c.621G>A (p.Leu207=) c.561G>A (p.Leu187=) c.1245G>A (p.Leu415=) c.1215G>A (p.Leu405=) c.1089G>A (p.Leu363=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362864G>C | CA494470177 | IL4R | c.1512G>C (p.Leu504=) c.1467G>C (p.Leu489=) c.230-1239G>C (n.230-1239G>C) c.*1555G>C (n.*1555G>C) c.1032G>C (p.Leu344=) c.621G>C (p.Leu207=) c.561G>C (p.Leu187=) c.1245G>C (p.Leu415=) c.1215G>C (p.Leu405=) c.1089G>C (p.Leu363=) | dbSNP |
16 | g.27362864G= | CA2215169885 | IL4R | c.1512G= (p.Leu504=) c.1467G= (p.Leu489=) c.230-1239G= (n.230-1239G=) c.*1555G= (n.*1555G=) c.1032G= (p.Leu344=) c.621G= (p.Leu207=) c.561G= (p.Leu187=) c.1245G= (p.Leu415=) c.1215G= (p.Leu405=) c.1089G= (p.Leu363=) | |
16 | g.27362864G>T | CA494470175 | IL4R | c.1512G>T (p.Leu504=) c.1467G>T (p.Leu489=) c.230-1239G>T (n.230-1239G>T) c.*1555G>T (n.*1555G>T) c.1032G>T (p.Leu344=) c.621G>T (p.Leu207=) c.561G>T (p.Leu187=) c.1245G>T (p.Leu415=) c.1215G>T (p.Leu405=) c.1089G>T (p.Leu363=) | |
16 | g.27362865A>C | CA395299047 | IL4R | c.1513A>C (p.Ser505Arg) c.1468A>C (p.Ser490Arg) c.230-1238A>C (n.230-1238A>C) c.*1556A>C (n.*1556A>C) c.1033A>C (p.Ser345Arg) c.622A>C (p.Ser208Arg) c.562A>C (p.Ser188Arg) c.1246A>C (p.Ser416Arg) c.1216A>C (p.Ser406Arg) c.1090A>C (p.Ser364Arg) | |
16 | g.27362865A>G | CA395299048 | IL4R | c.1513A>G (p.Ser505Gly) c.1468A>G (p.Ser490Gly) c.230-1238A>G (n.230-1238A>G) c.*1556A>G (n.*1556A>G) c.1033A>G (p.Ser345Gly) c.622A>G (p.Ser208Gly) c.562A>G (p.Ser188Gly) c.1246A>G (p.Ser416Gly) c.1216A>G (p.Ser406Gly) c.1090A>G (p.Ser364Gly) | |
16 | g.27362865A>T | CA395299049 | IL4R | c.1513A>T (p.Ser505Cys) c.1468A>T (p.Ser490Cys) c.230-1238A>T (n.230-1238A>T) c.*1556A>T (n.*1556A>T) c.1033A>T (p.Ser345Cys) c.622A>T (p.Ser208Cys) c.562A>T (p.Ser188Cys) c.1246A>T (p.Ser416Cys) c.1216A>T (p.Ser406Cys) c.1090A>T (p.Ser364Cys) | |
16 | g.27362866G>A | CA395299050 | IL4R | c.1514G>A (p.Ser505Asn) c.1469G>A (p.Ser490Asn) c.230-1237G>A (n.230-1237G>A) c.*1557G>A (n.*1557G>A) c.1034G>A (p.Ser345Asn) c.623G>A (p.Ser208Asn) c.563G>A (p.Ser188Asn) c.1247G>A (p.Ser416Asn) c.1217G>A (p.Ser406Asn) c.1091G>A (p.Ser364Asn) | |
16 | g.27362866G>C | CA395299052 | IL4R | c.1514G>C (p.Ser505Thr) c.1469G>C (p.Ser490Thr) c.230-1237G>C (n.230-1237G>C) c.*1557G>C (n.*1557G>C) c.1034G>C (p.Ser345Thr) c.623G>C (p.Ser208Thr) c.563G>C (p.Ser188Thr) c.1247G>C (p.Ser416Thr) c.1217G>C (p.Ser406Thr) c.1091G>C (p.Ser364Thr) | |
16 | g.27362866G>T | CA395299051 | IL4R | c.1514G>T (p.Ser505Ile) c.1469G>T (p.Ser490Ile) c.230-1237G>T (n.230-1237G>T) c.*1557G>T (n.*1557G>T) c.1034G>T (p.Ser345Ile) c.623G>T (p.Ser208Ile) c.563G>T (p.Ser188Ile) c.1247G>T (p.Ser416Ile) c.1217G>T (p.Ser406Ile) c.1091G>T (p.Ser364Ile) | |
16 | g.27362867C>A | CA395299053 | IL4R | c.1515C>A (p.Ser505Arg) c.1470C>A (p.Ser490Arg) c.230-1236C>A (n.230-1236C>A) c.*1558C>A (n.*1558C>A) c.1035C>A (p.Ser345Arg) c.624C>A (p.Ser208Arg) c.564C>A (p.Ser188Arg) c.1248C>A (p.Ser416Arg) c.1218C>A (p.Ser406Arg) c.1092C>A (p.Ser364Arg) | |
16 | g.27362867C>G | CA395299054 | IL4R | c.1515C>G (p.Ser505Arg) c.1470C>G (p.Ser490Arg) c.230-1236C>G (n.230-1236C>G) c.*1558C>G (n.*1558C>G) c.1035C>G (p.Ser345Arg) c.624C>G (p.Ser208Arg) c.564C>G (p.Ser188Arg) c.1248C>G (p.Ser416Arg) c.1218C>G (p.Ser406Arg) c.1092C>G (p.Ser364Arg) | gnomAD v4 |
16 | g.27362867C>T | CA494470178 | IL4R | c.1515C>T (p.Ser505=) c.1470C>T (p.Ser490=) c.230-1236C>T (n.230-1236C>T) c.*1558C>T (n.*1558C>T) c.1035C>T (p.Ser345=) c.624C>T (p.Ser208=) c.564C>T (p.Ser188=) c.1248C>T (p.Ser416=) c.1218C>T (p.Ser406=) c.1092C>T (p.Ser364=) | |
16 | g.27362868C>A | CA395299055 | IL4R | c.1516C>A (p.Gln506Lys) c.1471C>A (p.Gln491Lys) c.230-1235C>A (n.230-1235C>A) c.*1559C>A (n.*1559C>A) c.1036C>A (p.Gln346Lys) c.625C>A (p.Gln209Lys) c.565C>A (p.Gln189Lys) c.1249C>A (p.Gln417Lys) c.1219C>A (p.Gln407Lys) c.1093C>A (p.Gln365Lys) | |
16 | g.27362868C>G | CA395299056 | IL4R | c.1516C>G (p.Gln506Glu) c.1471C>G (p.Gln491Glu) c.230-1235C>G (n.230-1235C>G) c.*1559C>G (n.*1559C>G) c.1036C>G (p.Gln346Glu) c.625C>G (p.Gln209Glu) c.565C>G (p.Gln189Glu) c.1249C>G (p.Gln417Glu) c.1219C>G (p.Gln407Glu) c.1093C>G (p.Gln365Glu) | |
16 | g.27362868C>T | CA395299057 | IL4R | c.1516C>T (p.Gln506Ter) c.1471C>T (p.Gln491Ter) c.230-1235C>T (n.230-1235C>T) c.*1559C>T (n.*1559C>T) c.1036C>T (p.Gln346Ter) c.625C>T (p.Gln209Ter) c.565C>T (p.Gln189Ter) c.1249C>T (p.Gln417Ter) c.1219C>T (p.Gln407Ter) c.1093C>T (p.Gln365Ter) | |
16 | g.27362869A>C | CA395299058 | IL4R | c.1517A>C (p.Gln506Pro) c.1472A>C (p.Gln491Pro) c.230-1234A>C (n.230-1234A>C) c.*1560A>C (n.*1560A>C) c.1037A>C (p.Gln346Pro) c.626A>C (p.Gln209Pro) c.566A>C (p.Gln189Pro) c.1250A>C (p.Gln417Pro) c.1220A>C (p.Gln407Pro) c.1094A>C (p.Gln365Pro) | |
16 | g.27362869A>G | CA395299059 | IL4R | c.1517A>G (p.Gln506Arg) c.1472A>G (p.Gln491Arg) c.230-1234A>G (n.230-1234A>G) c.*1560A>G (n.*1560A>G) c.1037A>G (p.Gln346Arg) c.626A>G (p.Gln209Arg) c.566A>G (p.Gln189Arg) c.1250A>G (p.Gln417Arg) c.1220A>G (p.Gln407Arg) c.1094A>G (p.Gln365Arg) | |
16 | g.27362869A>T | CA395299060 | IL4R | c.1517A>T (p.Gln506Leu) c.1472A>T (p.Gln491Leu) c.230-1234A>T (n.230-1234A>T) c.*1560A>T (n.*1560A>T) c.1037A>T (p.Gln346Leu) c.626A>T (p.Gln209Leu) c.566A>T (p.Gln189Leu) c.1250A>T (p.Gln417Leu) c.1220A>T (p.Gln407Leu) c.1094A>T (p.Gln365Leu) | |
16 | g.27362870G>A | CA494470179 | IL4R | c.1518G>A (p.Gln506=) c.1473G>A (p.Gln491=) c.230-1233G>A (n.230-1233G>A) c.*1561G>A (n.*1561G>A) c.1038G>A (p.Gln346=) c.627G>A (p.Gln209=) c.567G>A (p.Gln189=) c.1251G>A (p.Gln417=) c.1221G>A (p.Gln407=) c.1095G>A (p.Gln365=) | |
16 | g.27362870G>C | CA395299061 | IL4R | c.1518G>C (p.Gln506His) c.1473G>C (p.Gln491His) c.230-1233G>C (n.230-1233G>C) c.*1561G>C (n.*1561G>C) c.1038G>C (p.Gln346His) c.627G>C (p.Gln209His) c.567G>C (p.Gln189His) c.1251G>C (p.Gln417His) c.1221G>C (p.Gln407His) c.1095G>C (p.Gln365His) | |
16 | g.27362870G>T | CA395299062 | IL4R | c.1518G>T (p.Gln506His) c.1473G>T (p.Gln491His) c.230-1233G>T (n.230-1233G>T) c.*1561G>T (n.*1561G>T) c.1038G>T (p.Gln346His) c.627G>T (p.Gln209His) c.567G>T (p.Gln189His) c.1251G>T (p.Gln417His) c.1221G>T (p.Gln407His) c.1095G>T (p.Gln365His) | |
16 | g.27362871T>A | CA395299063 | IL4R | c.1519T>A (p.Ser507Thr) c.1474T>A (p.Ser492Thr) c.230-1232T>A (n.230-1232T>A) c.*1562T>A (n.*1562T>A) c.1039T>A (p.Ser347Thr) c.628T>A (p.Ser210Thr) c.568T>A (p.Ser190Thr) c.1252T>A (p.Ser418Thr) c.1222T>A (p.Ser408Thr) c.1096T>A (p.Ser366Thr) | |
16 | g.27362871T>C | CA395299064 | IL4R | c.1519T>C (p.Ser507Pro) c.1474T>C (p.Ser492Pro) c.230-1232T>C (n.230-1232T>C) c.*1562T>C (n.*1562T>C) c.1039T>C (p.Ser347Pro) c.628T>C (p.Ser210Pro) c.568T>C (p.Ser190Pro) c.1252T>C (p.Ser418Pro) c.1222T>C (p.Ser408Pro) c.1096T>C (p.Ser366Pro) | gnomAD v4 |
16 | g.27362871T>G | CA395299065 | IL4R | c.1519T>G (p.Ser507Ala) c.1474T>G (p.Ser492Ala) c.230-1232T>G (n.230-1232T>G) c.*1562T>G (n.*1562T>G) c.1039T>G (p.Ser347Ala) c.628T>G (p.Ser210Ala) c.568T>G (p.Ser190Ala) c.1252T>G (p.Ser418Ala) c.1222T>G (p.Ser408Ala) c.1096T>G (p.Ser366Ala) | |
16 | g.27362872C>A | CA395299066 | IL4R | c.1520C>A (p.Ser507Ter) c.1475C>A (p.Ser492Ter) c.230-1231C>A (n.230-1231C>A) c.*1563C>A (n.*1563C>A) c.1040C>A (p.Ser347Ter) c.629C>A (p.Ser210Ter) c.569C>A (p.Ser190Ter) c.1253C>A (p.Ser418Ter) c.1223C>A (p.Ser408Ter) c.1097C>A (p.Ser366Ter) | |
16 | g.27362872C= | CA2215169888 | IL4R | c.1520C= (p.Ser507=) c.1475C= (p.Ser492=) c.230-1231C= (n.230-1231C=) c.*1563C= (n.*1563C=) c.1040C= (p.Ser347=) c.629C= (p.Ser210=) c.569C= (p.Ser190=) c.1253C= (p.Ser418=) c.1223C= (p.Ser408=) c.1097C= (p.Ser366=) | |
16 | g.27362872C>G | CA395299068 | IL4R | c.1520C>G (p.Ser507Ter) c.1475C>G (p.Ser492Ter) c.230-1231C>G (n.230-1231C>G) c.*1563C>G (n.*1563C>G) c.1040C>G (p.Ser347Ter) c.629C>G (p.Ser210Ter) c.569C>G (p.Ser190Ter) c.1253C>G (p.Ser418Ter) c.1223C>G (p.Ser408Ter) c.1097C>G (p.Ser366Ter) | |
16 | g.27362872C>T | CA395299067 | IL4R | c.1520C>T (p.Ser507Leu) c.1475C>T (p.Ser492Leu) c.230-1231C>T (n.230-1231C>T) c.*1563C>T (n.*1563C>T) c.1040C>T (p.Ser347Leu) c.629C>T (p.Ser210Leu) c.569C>T (p.Ser190Leu) c.1253C>T (p.Ser418Leu) c.1223C>T (p.Ser408Leu) c.1097C>T (p.Ser366Leu) | dbSNP gnomAD v2 |
16 | g.27362873A>C | CA494470180 | IL4R | c.1521A>C (p.Ser507=) c.1476A>C (p.Ser492=) c.230-1230A>C (n.230-1230A>C) c.*1564A>C (n.*1564A>C) c.1041A>C (p.Ser347=) c.630A>C (p.Ser210=) c.570A>C (p.Ser190=) c.1254A>C (p.Ser418=) c.1224A>C (p.Ser408=) c.1098A>C (p.Ser366=) | |
16 | g.27362873A>G | CA494470181 | IL4R | c.1521A>G (p.Ser507=) c.1476A>G (p.Ser492=) c.230-1230A>G (n.230-1230A>G) c.*1564A>G (n.*1564A>G) c.1041A>G (p.Ser347=) c.630A>G (p.Ser210=) c.570A>G (p.Ser190=) c.1254A>G (p.Ser418=) c.1224A>G (p.Ser408=) c.1098A>G (p.Ser366=) | |
16 | g.27362873A>T | CA494470182 | IL4R | c.1521A>T (p.Ser507=) c.1476A>T (p.Ser492=) c.230-1230A>T (n.230-1230A>T) c.*1564A>T (n.*1564A>T) c.1041A>T (p.Ser347=) c.630A>T (p.Ser210=) c.570A>T (p.Ser190=) c.1254A>T (p.Ser418=) c.1224A>T (p.Ser408=) c.1098A>T (p.Ser366=) | |
16 | g.27362874C>A | CA395299069 | IL4R | c.1522C>A (p.Pro508Thr) c.1477C>A (p.Pro493Thr) c.230-1229C>A (n.230-1229C>A) c.*1565C>A (n.*1565C>A) c.1042C>A (p.Pro348Thr) c.631C>A (p.Pro211Thr) c.571C>A (p.Pro191Thr) c.1255C>A (p.Pro419Thr) c.1225C>A (p.Pro409Thr) c.1099C>A (p.Pro367Thr) | |
16 | g.27362874C= | CA2215169893 | IL4R | c.1522C= (p.Pro508=) c.1477C= (p.Pro493=) c.230-1229C= (n.230-1229C=) c.*1565C= (n.*1565C=) c.1042C= (p.Pro348=) c.631C= (p.Pro211=) c.571C= (p.Pro191=) c.1255C= (p.Pro419=) c.1225C= (p.Pro409=) c.1099C= (p.Pro367=) | |
16 | g.27362874C>G | CA395299070 | IL4R | c.1522C>G (p.Pro508Ala) c.1477C>G (p.Pro493Ala) c.230-1229C>G (n.230-1229C>G) c.*1565C>G (n.*1565C>G) c.1042C>G (p.Pro348Ala) c.631C>G (p.Pro211Ala) c.571C>G (p.Pro191Ala) c.1255C>G (p.Pro419Ala) c.1225C>G (p.Pro409Ala) c.1099C>G (p.Pro367Ala) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362874C>T | CA395299071 | IL4R | c.1522C>T (p.Pro508Ser) c.1477C>T (p.Pro493Ser) c.230-1229C>T (n.230-1229C>T) c.*1565C>T (n.*1565C>T) c.1042C>T (p.Pro348Ser) c.631C>T (p.Pro211Ser) c.571C>T (p.Pro191Ser) c.1255C>T (p.Pro419Ser) c.1225C>T (p.Pro409Ser) c.1099C>T (p.Pro367Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362875C>A | CA395299072 | IL4R | c.1523C>A (p.Pro508Gln) c.1478C>A (p.Pro493Gln) c.230-1228C>A (n.230-1228C>A) c.*1566C>A (n.*1566C>A) c.1043C>A (p.Pro348Gln) c.632C>A (p.Pro211Gln) c.572C>A (p.Pro191Gln) c.1256C>A (p.Pro419Gln) c.1226C>A (p.Pro409Gln) c.1100C>A (p.Pro367Gln) | |
16 | g.27362875C= | CA2215169895 | IL4R | c.1523C= (p.Pro508=) c.1478C= (p.Pro493=) c.230-1228C= (n.230-1228C=) c.*1566C= (n.*1566C=) c.1043C= (p.Pro348=) c.632C= (p.Pro211=) c.572C= (p.Pro191=) c.1256C= (p.Pro419=) c.1226C= (p.Pro409=) c.1100C= (p.Pro367=) | |
16 | g.27362875C>G | CA395299073 | IL4R | c.1523C>G (p.Pro508Arg) c.1478C>G (p.Pro493Arg) c.230-1228C>G (n.230-1228C>G) c.*1566C>G (n.*1566C>G) c.1043C>G (p.Pro348Arg) c.632C>G (p.Pro211Arg) c.572C>G (p.Pro191Arg) c.1256C>G (p.Pro419Arg) c.1226C>G (p.Pro409Arg) c.1100C>G (p.Pro367Arg) | |
16 | g.27362875C>T | CA7974583 | IL4R | c.1523C>T (p.Pro508Leu) c.1478C>T (p.Pro493Leu) c.230-1228C>T (n.230-1228C>T) c.*1566C>T (n.*1566C>T) c.1043C>T (p.Pro348Leu) c.632C>T (p.Pro211Leu) c.572C>T (p.Pro191Leu) c.1256C>T (p.Pro419Leu) c.1226C>T (p.Pro409Leu) c.1100C>T (p.Pro367Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362876G>A | CA7974584 | IL4R | c.1524G>A (p.Pro508=) c.1479G>A (p.Pro493=) c.230-1227G>A (n.230-1227G>A) c.*1567G>A (n.*1567G>A) c.1044G>A (p.Pro348=) c.633G>A (p.Pro211=) c.573G>A (p.Pro191=) c.1257G>A (p.Pro419=) c.1227G>A (p.Pro409=) c.1101G>A (p.Pro367=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362876G>C | CA494470183 | IL4R | c.1524G>C (p.Pro508=) c.1479G>C (p.Pro493=) c.230-1227G>C (n.230-1227G>C) c.*1567G>C (n.*1567G>C) c.1044G>C (p.Pro348=) c.633G>C (p.Pro211=) c.573G>C (p.Pro191=) c.1257G>C (p.Pro419=) c.1227G>C (p.Pro409=) c.1101G>C (p.Pro367=) | |
16 | g.27362876G= | CA2215169897 | IL4R | c.1524G= (p.Pro508=) c.1479G= (p.Pro493=) c.230-1227G= (n.230-1227G=) c.*1567G= (n.*1567G=) c.1044G= (p.Pro348=) c.633G= (p.Pro211=) c.573G= (p.Pro191=) c.1257G= (p.Pro419=) c.1227G= (p.Pro409=) c.1101G= (p.Pro367=) | |
16 | g.27362876G>T | CA494470184 | IL4R | c.1524G>T (p.Pro508=) c.1479G>T (p.Pro493=) c.230-1227G>T (n.230-1227G>T) c.*1567G>T (n.*1567G>T) c.1044G>T (p.Pro348=) c.633G>T (p.Pro211=) c.573G>T (p.Pro191=) c.1257G>T (p.Pro419=) c.1227G>T (p.Pro409=) c.1101G>T (p.Pro367=) | |
16 | g.27362877T>A | CA395299074 | IL4R | c.1525T>A (p.Cys509Ser) c.1480T>A (p.Cys494Ser) c.230-1226T>A (n.230-1226T>A) c.*1568T>A (n.*1568T>A) c.1045T>A (p.Cys349Ser) c.634T>A (p.Cys212Ser) c.574T>A (p.Cys192Ser) c.1258T>A (p.Cys420Ser) c.1228T>A (p.Cys410Ser) c.1102T>A (p.Cys368Ser) | dbSNP gnomAD v4 |
16 | g.27362877T>C | CA395299075 | IL4R | c.1525T>C (p.Cys509Arg) c.1480T>C (p.Cys494Arg) c.230-1226T>C (n.230-1226T>C) c.*1568T>C (n.*1568T>C) c.1045T>C (p.Cys349Arg) c.634T>C (p.Cys212Arg) c.574T>C (p.Cys192Arg) c.1258T>C (p.Cys420Arg) c.1228T>C (p.Cys410Arg) c.1102T>C (p.Cys368Arg) | dbSNP |
16 | g.27362877T>G | CA395299076 | IL4R | c.1525T>G (p.Cys509Gly) c.1480T>G (p.Cys494Gly) c.230-1226T>G (n.230-1226T>G) c.*1568T>G (n.*1568T>G) c.1045T>G (p.Cys349Gly) c.634T>G (p.Cys212Gly) c.574T>G (p.Cys192Gly) c.1258T>G (p.Cys420Gly) c.1228T>G (p.Cys410Gly) c.1102T>G (p.Cys368Gly) | |
16 | g.27362877T= | CA2215169898 | IL4R | c.1525T= (p.Cys509=) c.1480T= (p.Cys494=) c.230-1226T= (n.230-1226T=) c.*1568T= (n.*1568T=) c.1045T= (p.Cys349=) c.634T= (p.Cys212=) c.574T= (p.Cys192=) c.1258T= (p.Cys420=) c.1228T= (p.Cys410=) c.1102T= (p.Cys368=) | |
16 | g.27362878G>A | CA395299078 | IL4R | c.1526G>A (p.Cys509Tyr) c.1481G>A (p.Cys494Tyr) c.230-1225G>A (n.230-1225G>A) c.*1569G>A (n.*1569G>A) c.1046G>A (p.Cys349Tyr) c.635G>A (p.Cys212Tyr) c.575G>A (p.Cys192Tyr) c.1259G>A (p.Cys420Tyr) c.1229G>A (p.Cys410Tyr) c.1103G>A (p.Cys368Tyr) | |
16 | g.27362878G>C | CA395299079 | IL4R | c.1526G>C (p.Cys509Ser) c.1481G>C (p.Cys494Ser) c.230-1225G>C (n.230-1225G>C) c.*1569G>C (n.*1569G>C) c.1046G>C (p.Cys349Ser) c.635G>C (p.Cys212Ser) c.575G>C (p.Cys192Ser) c.1259G>C (p.Cys420Ser) c.1229G>C (p.Cys410Ser) c.1103G>C (p.Cys368Ser) | |
16 | g.27362878G>T | CA395299077 | IL4R | c.1526G>T (p.Cys509Phe) c.1481G>T (p.Cys494Phe) c.230-1225G>T (n.230-1225G>T) c.*1569G>T (n.*1569G>T) c.1046G>T (p.Cys349Phe) c.635G>T (p.Cys212Phe) c.575G>T (p.Cys192Phe) c.1259G>T (p.Cys420Phe) c.1229G>T (p.Cys410Phe) c.1103G>T (p.Cys368Phe) | |
16 | g.27362879T>A | CA395299081 | IL4R | c.1527T>A (p.Cys509Ter) c.1482T>A (p.Cys494Ter) c.230-1224T>A (n.230-1224T>A) c.*1570T>A (n.*1570T>A) c.1047T>A (p.Cys349Ter) c.636T>A (p.Cys212Ter) c.576T>A (p.Cys192Ter) c.1260T>A (p.Cys420Ter) c.1230T>A (p.Cys410Ter) c.1104T>A (p.Cys368Ter) | |
16 | g.27362879T>C | CA494470185 | IL4R | c.1527T>C (p.Cys509=) c.1482T>C (p.Cys494=) c.230-1224T>C (n.230-1224T>C) c.*1570T>C (n.*1570T>C) c.1047T>C (p.Cys349=) c.636T>C (p.Cys212=) c.576T>C (p.Cys192=) c.1260T>C (p.Cys420=) c.1230T>C (p.Cys410=) c.1104T>C (p.Cys368=) | |
16 | g.27362879T>G | CA395299080 | IL4R | c.1527T>G (p.Cys509Trp) c.1482T>G (p.Cys494Trp) c.230-1224T>G (n.230-1224T>G) c.*1570T>G (n.*1570T>G) c.1047T>G (p.Cys349Trp) c.636T>G (p.Cys212Trp) c.576T>G (p.Cys192Trp) c.1260T>G (p.Cys420Trp) c.1230T>G (p.Cys410Trp) c.1104T>G (p.Cys368Trp) | |
16 | g.27362880C>A | CA395299082 | IL4R | c.1528C>A (p.Pro510Thr) c.1483C>A (p.Pro495Thr) c.230-1223C>A (n.230-1223C>A) c.*1571C>A (n.*1571C>A) c.1048C>A (p.Pro350Thr) c.637C>A (p.Pro213Thr) c.577C>A (p.Pro193Thr) c.1261C>A (p.Pro421Thr) c.1231C>A (p.Pro411Thr) c.1105C>A (p.Pro369Thr) | |
16 | g.27362880C>G | CA395299083 | IL4R | c.1528C>G (p.Pro510Ala) c.1483C>G (p.Pro495Ala) c.230-1223C>G (n.230-1223C>G) c.*1571C>G (n.*1571C>G) c.1048C>G (p.Pro350Ala) c.637C>G (p.Pro213Ala) c.577C>G (p.Pro193Ala) c.1261C>G (p.Pro421Ala) c.1231C>G (p.Pro411Ala) c.1105C>G (p.Pro369Ala) | |
16 | g.27362880C>T | CA395299084 | IL4R | c.1528C>T (p.Pro510Ser) c.1483C>T (p.Pro495Ser) c.230-1223C>T (n.230-1223C>T) c.*1571C>T (n.*1571C>T) c.1048C>T (p.Pro350Ser) c.637C>T (p.Pro213Ser) c.577C>T (p.Pro193Ser) c.1261C>T (p.Pro421Ser) c.1231C>T (p.Pro411Ser) c.1105C>T (p.Pro369Ser) | |
16 | g.27362881C>A | CA395299085 | IL4R | c.1529C>A (p.Pro510His) c.1484C>A (p.Pro495His) c.230-1222C>A (n.230-1222C>A) c.*1572C>A (n.*1572C>A) c.1049C>A (p.Pro350His) c.638C>A (p.Pro213His) c.578C>A (p.Pro193His) c.1262C>A (p.Pro421His) c.1232C>A (p.Pro411His) c.1106C>A (p.Pro369His) | |
16 | g.27362881C>G | CA395299086 | IL4R | c.1529C>G (p.Pro510Arg) c.1484C>G (p.Pro495Arg) c.230-1222C>G (n.230-1222C>G) c.*1572C>G (n.*1572C>G) c.1049C>G (p.Pro350Arg) c.638C>G (p.Pro213Arg) c.578C>G (p.Pro193Arg) c.1262C>G (p.Pro421Arg) c.1232C>G (p.Pro411Arg) c.1106C>G (p.Pro369Arg) | |
16 | g.27362881C>T | CA395299087 | IL4R | c.1529C>T (p.Pro510Leu) c.1484C>T (p.Pro495Leu) c.230-1222C>T (n.230-1222C>T) c.*1572C>T (n.*1572C>T) c.1049C>T (p.Pro350Leu) c.638C>T (p.Pro213Leu) c.578C>T (p.Pro193Leu) c.1262C>T (p.Pro421Leu) c.1232C>T (p.Pro411Leu) c.1106C>T (p.Pro369Leu) | |
16 | g.27362882C>A | CA494470188 | IL4R | c.1530C>A (p.Pro510=) c.1485C>A (p.Pro495=) c.230-1221C>A (n.230-1221C>A) c.*1573C>A (n.*1573C>A) c.1050C>A (p.Pro350=) c.639C>A (p.Pro213=) c.579C>A (p.Pro193=) c.1263C>A (p.Pro421=) c.1233C>A (p.Pro411=) c.1107C>A (p.Pro369=) | |
16 | g.27362882C>G | CA494470186 | IL4R | c.1530C>G (p.Pro510=) c.1485C>G (p.Pro495=) c.230-1221C>G (n.230-1221C>G) c.*1573C>G (n.*1573C>G) c.1050C>G (p.Pro350=) c.639C>G (p.Pro213=) c.579C>G (p.Pro193=) c.1263C>G (p.Pro421=) c.1233C>G (p.Pro411=) c.1107C>G (p.Pro369=) | |
16 | g.27362882C>T | CA494470187 | IL4R | c.1530C>T (p.Pro510=) c.1485C>T (p.Pro495=) c.230-1221C>T (n.230-1221C>T) c.*1573C>T (n.*1573C>T) c.1050C>T (p.Pro350=) c.639C>T (p.Pro213=) c.579C>T (p.Pro193=) c.1263C>T (p.Pro421=) c.1233C>T (p.Pro411=) c.1107C>T (p.Pro369=) | |
16 | g.27362883A>C | CA494470189 | IL4R | c.1531A>C (p.Arg511=) c.1486A>C (p.Arg496=) c.230-1220A>C (n.230-1220A>C) c.*1574A>C (n.*1574A>C) c.1051A>C (p.Arg351=) c.640A>C (p.Arg214=) c.580A>C (p.Arg194=) c.1264A>C (p.Arg422=) c.1234A>C (p.Arg412=) c.1108A>C (p.Arg370=) | |
16 | g.27362883A>G | CA395299088 | IL4R | c.1531A>G (p.Arg511Gly) c.1486A>G (p.Arg496Gly) c.230-1220A>G (n.230-1220A>G) c.*1574A>G (n.*1574A>G) c.1051A>G (p.Arg351Gly) c.640A>G (p.Arg214Gly) c.580A>G (p.Arg194Gly) c.1264A>G (p.Arg422Gly) c.1234A>G (p.Arg412Gly) c.1108A>G (p.Arg370Gly) | |
16 | g.27362883A>T | CA395299089 | IL4R | c.1531A>T (p.Arg511Ter) c.1486A>T (p.Arg496Ter) c.230-1220A>T (n.230-1220A>T) c.*1574A>T (n.*1574A>T) c.1051A>T (p.Arg351Ter) c.640A>T (p.Arg214Ter) c.580A>T (p.Arg194Ter) c.1264A>T (p.Arg422Ter) c.1234A>T (p.Arg412Ter) c.1108A>T (p.Arg370Ter) | |
16 | g.27362884G>A | CA395299090 | IL4R | c.1532G>A (p.Arg511Lys) c.1487G>A (p.Arg496Lys) c.230-1219G>A (n.230-1219G>A) c.*1575G>A (n.*1575G>A) c.1052G>A (p.Arg351Lys) c.641G>A (p.Arg214Lys) c.581G>A (p.Arg194Lys) c.1265G>A (p.Arg422Lys) c.1235G>A (p.Arg412Lys) c.1109G>A (p.Arg370Lys) | |
16 | g.27362884G>C | CA395299091 | IL4R | c.1532G>C (p.Arg511Thr) c.1487G>C (p.Arg496Thr) c.230-1219G>C (n.230-1219G>C) c.*1575G>C (n.*1575G>C) c.1052G>C (p.Arg351Thr) c.641G>C (p.Arg214Thr) c.581G>C (p.Arg194Thr) c.1265G>C (p.Arg422Thr) c.1235G>C (p.Arg412Thr) c.1109G>C (p.Arg370Thr) | |
16 | g.27362884G>T | CA395299092 | IL4R | c.1532G>T (p.Arg511Ile) c.1487G>T (p.Arg496Ile) c.230-1219G>T (n.230-1219G>T) c.*1575G>T (n.*1575G>T) c.1052G>T (p.Arg351Ile) c.641G>T (p.Arg214Ile) c.581G>T (p.Arg194Ile) c.1265G>T (p.Arg422Ile) c.1235G>T (p.Arg412Ile) c.1109G>T (p.Arg370Ile) |