Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.27362754G>A | CA395298819 | IL4R | c.1402G>A (p.Glu468Lys) c.1357G>A (p.Glu453Lys) c.230-1349G>A (n.230-1349G>A) c.*1445G>A (n.*1445G>A) c.922G>A (p.Glu308Lys) c.511G>A (p.Glu171Lys) c.451G>A (p.Glu151Lys) c.1135G>A (p.Glu379Lys) c.1105G>A (p.Glu369Lys) c.979G>A (p.Glu327Lys) c.*437G>A (n.*437G>A) | |
16 | g.27362754G>C | CA395298820 | IL4R | c.1402G>C (p.Glu468Gln) c.1357G>C (p.Glu453Gln) c.230-1349G>C (n.230-1349G>C) c.*1445G>C (n.*1445G>C) c.922G>C (p.Glu308Gln) c.511G>C (p.Glu171Gln) c.451G>C (p.Glu151Gln) c.1135G>C (p.Glu379Gln) c.1105G>C (p.Glu369Gln) c.979G>C (p.Glu327Gln) c.*437G>C (n.*437G>C) | |
16 | g.27362754G>T | CA395298821 | IL4R | c.1402G>T (p.Glu468Ter) c.1357G>T (p.Glu453Ter) c.230-1349G>T (n.230-1349G>T) c.*1445G>T (n.*1445G>T) c.922G>T (p.Glu308Ter) c.511G>T (p.Glu171Ter) c.451G>T (p.Glu151Ter) c.1135G>T (p.Glu379Ter) c.1105G>T (p.Glu369Ter) c.979G>T (p.Glu327Ter) c.*437G>T (n.*437G>T) | |
16 | g.27362755A>C | CA395298822 | IL4R | c.1403A>C (p.Glu468Ala) c.1358A>C (p.Glu453Ala) c.230-1348A>C (n.230-1348A>C) c.*1446A>C (n.*1446A>C) c.923A>C (p.Glu308Ala) c.512A>C (p.Glu171Ala) c.452A>C (p.Glu151Ala) c.1136A>C (p.Glu379Ala) c.1106A>C (p.Glu369Ala) c.980A>C (p.Glu327Ala) c.*438A>C (n.*438A>C) | |
16 | g.27362755A>G | CA395298823 | IL4R | c.1403A>G (p.Glu468Gly) c.1358A>G (p.Glu453Gly) c.230-1348A>G (n.230-1348A>G) c.*1446A>G (n.*1446A>G) c.923A>G (p.Glu308Gly) c.512A>G (p.Glu171Gly) c.452A>G (p.Glu151Gly) c.1136A>G (p.Glu379Gly) c.1106A>G (p.Glu369Gly) c.980A>G (p.Glu327Gly) c.*438A>G (n.*438A>G) | |
16 | g.27362755A>T | CA395298824 | IL4R | c.1403A>T (p.Glu468Val) c.1358A>T (p.Glu453Val) c.230-1348A>T (n.230-1348A>T) c.*1446A>T (n.*1446A>T) c.923A>T (p.Glu308Val) c.512A>T (p.Glu171Val) c.452A>T (p.Glu151Val) c.1136A>T (p.Glu379Val) c.1106A>T (p.Glu369Val) c.980A>T (p.Glu327Val) c.*438A>T (n.*438A>T) | |
16 | g.27362756G>A | CA7974554 | IL4R | c.1404G>A (p.Glu468=) c.1359G>A (p.Glu453=) c.230-1347G>A (n.230-1347G>A) c.*1447G>A (n.*1447G>A) c.924G>A (p.Glu308=) c.513G>A (p.Glu171=) c.453G>A (p.Glu151=) c.1137G>A (p.Glu379=) c.1107G>A (p.Glu369=) c.981G>A (p.Glu327=) c.*439G>A (n.*439G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362756G>C | CA395298825 | IL4R | c.1404G>C (p.Glu468Asp) c.1359G>C (p.Glu453Asp) c.230-1347G>C (n.230-1347G>C) c.*1447G>C (n.*1447G>C) c.924G>C (p.Glu308Asp) c.513G>C (p.Glu171Asp) c.453G>C (p.Glu151Asp) c.1137G>C (p.Glu379Asp) c.1107G>C (p.Glu369Asp) c.981G>C (p.Glu327Asp) c.*439G>C (n.*439G>C) | |
16 | g.27362756G= | CA2215169729 | IL4R | c.1404G= (p.Glu468=) c.1359G= (p.Glu453=) c.230-1347G= (n.230-1347G=) c.*1447G= (n.*1447G=) c.924G= (p.Glu308=) c.513G= (p.Glu171=) c.453G= (p.Glu151=) c.1137G= (p.Glu379=) c.1107G= (p.Glu369=) c.981G= (p.Glu327=) c.*439G= (n.*439G=) | |
16 | g.27362756G>T | CA395298826 | IL4R | c.1404G>T (p.Glu468Asp) c.1359G>T (p.Glu453Asp) c.230-1347G>T (n.230-1347G>T) c.*1447G>T (n.*1447G>T) c.924G>T (p.Glu308Asp) c.513G>T (p.Glu171Asp) c.453G>T (p.Glu151Asp) c.1137G>T (p.Glu379Asp) c.1107G>T (p.Glu369Asp) c.981G>T (p.Glu327Asp) c.*439G>T (n.*439G>T) | |
16 | g.27362757C>A | CA395298827 | IL4R | c.1405C>A (p.Pro469Thr) c.1360C>A (p.Pro454Thr) c.230-1346C>A (n.230-1346C>A) c.*1448C>A (n.*1448C>A) c.925C>A (p.Pro309Thr) c.514C>A (p.Pro172Thr) c.454C>A (p.Pro152Thr) c.1138C>A (p.Pro380Thr) c.1108C>A (p.Pro370Thr) c.982C>A (p.Pro328Thr) c.*440C>A (n.*440C>A) | |
16 | g.27362757C>G | CA395298829 | IL4R | c.1405C>G (p.Pro469Ala) c.1360C>G (p.Pro454Ala) c.230-1346C>G (n.230-1346C>G) c.*1448C>G (n.*1448C>G) c.925C>G (p.Pro309Ala) c.514C>G (p.Pro172Ala) c.454C>G (p.Pro152Ala) c.1138C>G (p.Pro380Ala) c.1108C>G (p.Pro370Ala) c.982C>G (p.Pro328Ala) c.*440C>G (n.*440C>G) | |
16 | g.27362757C>T | CA395298828 | IL4R | c.1405C>T (p.Pro469Ser) c.1360C>T (p.Pro454Ser) c.230-1346C>T (n.230-1346C>T) c.*1448C>T (n.*1448C>T) c.925C>T (p.Pro309Ser) c.514C>T (p.Pro172Ser) c.454C>T (p.Pro152Ser) c.1138C>T (p.Pro380Ser) c.1108C>T (p.Pro370Ser) c.982C>T (p.Pro328Ser) c.*440C>T (n.*440C>T) | |
16 | g.27362758C>A | CA395298830 | IL4R | c.1406C>A (p.Pro469Gln) c.1361C>A (p.Pro454Gln) c.230-1345C>A (n.230-1345C>A) c.*1449C>A (n.*1449C>A) c.926C>A (p.Pro309Gln) c.515C>A (p.Pro172Gln) c.455C>A (p.Pro152Gln) c.1139C>A (p.Pro380Gln) c.1109C>A (p.Pro370Gln) c.983C>A (p.Pro328Gln) c.*441C>A (n.*441C>A) | |
16 | g.27362758C>G | CA395298831 | IL4R | c.1406C>G (p.Pro469Arg) c.1361C>G (p.Pro454Arg) c.230-1345C>G (n.230-1345C>G) c.*1449C>G (n.*1449C>G) c.926C>G (p.Pro309Arg) c.515C>G (p.Pro172Arg) c.455C>G (p.Pro152Arg) c.1139C>G (p.Pro380Arg) c.1109C>G (p.Pro370Arg) c.983C>G (p.Pro328Arg) c.*441C>G (n.*441C>G) | |
16 | g.27362758C>T | CA395298832 | IL4R | c.1406C>T (p.Pro469Leu) c.1361C>T (p.Pro454Leu) c.230-1345C>T (n.230-1345C>T) c.*1449C>T (n.*1449C>T) c.926C>T (p.Pro309Leu) c.515C>T (p.Pro172Leu) c.455C>T (p.Pro152Leu) c.1139C>T (p.Pro380Leu) c.1109C>T (p.Pro370Leu) c.983C>T (p.Pro328Leu) c.*441C>T (n.*441C>T) | |
16 | g.27362759A>C | CA494470613 | IL4R | c.1407A>C (p.Pro469=) c.1362A>C (p.Pro454=) c.230-1344A>C (n.230-1344A>C) c.*1450A>C (n.*1450A>C) c.927A>C (p.Pro309=) c.516A>C (p.Pro172=) c.456A>C (p.Pro152=) c.1140A>C (p.Pro380=) c.1110A>C (p.Pro370=) c.984A>C (p.Pro328=) c.*442A>C (n.*442A>C) | |
16 | g.27362759A>G | CA494470612 | IL4R | c.1407A>G (p.Pro469=) c.1362A>G (p.Pro454=) c.230-1344A>G (n.230-1344A>G) c.*1450A>G (n.*1450A>G) c.927A>G (p.Pro309=) c.516A>G (p.Pro172=) c.456A>G (p.Pro152=) c.1140A>G (p.Pro380=) c.1110A>G (p.Pro370=) c.984A>G (p.Pro328=) c.*442A>G (n.*442A>G) | |
16 | g.27362759A>T | CA494470614 | IL4R | c.1407A>T (p.Pro469=) c.1362A>T (p.Pro454=) c.230-1344A>T (n.230-1344A>T) c.*1450A>T (n.*1450A>T) c.927A>T (p.Pro309=) c.516A>T (p.Pro172=) c.456A>T (p.Pro152=) c.1140A>T (p.Pro380=) c.1110A>T (p.Pro370=) c.984A>T (p.Pro328=) c.*442A>T (n.*442A>T) | |
16 | g.27362760A>C | CA395298833 | IL4R | c.1408A>C (p.Ser470Arg) c.1363A>C (p.Ser455Arg) c.230-1343A>C (n.230-1343A>C) c.*1451A>C (n.*1451A>C) c.928A>C (p.Ser310Arg) c.517A>C (p.Ser173Arg) c.457A>C (p.Ser153Arg) c.1141A>C (p.Ser381Arg) c.1111A>C (p.Ser371Arg) c.985A>C (p.Ser329Arg) c.*443A>C (n.*443A>C) | |
16 | g.27362760A>G | CA395298834 | IL4R | c.1408A>G (p.Ser470Gly) c.1363A>G (p.Ser455Gly) c.230-1343A>G (n.230-1343A>G) c.*1451A>G (n.*1451A>G) c.928A>G (p.Ser310Gly) c.517A>G (p.Ser173Gly) c.457A>G (p.Ser153Gly) c.1141A>G (p.Ser381Gly) c.1111A>G (p.Ser371Gly) c.985A>G (p.Ser329Gly) c.*443A>G (n.*443A>G) | |
16 | g.27362760A>T | CA395298835 | IL4R | c.1408A>T (p.Ser470Cys) c.1363A>T (p.Ser455Cys) c.230-1343A>T (n.230-1343A>T) c.*1451A>T (n.*1451A>T) c.928A>T (p.Ser310Cys) c.517A>T (p.Ser173Cys) c.457A>T (p.Ser153Cys) c.1141A>T (p.Ser381Cys) c.1111A>T (p.Ser371Cys) c.985A>T (p.Ser329Cys) c.*443A>T (n.*443A>T) | |
16 | g.27362761G>A | CA395298836 | IL4R | c.1409G>A (p.Ser470Asn) c.1364G>A (p.Ser455Asn) c.230-1342G>A (n.230-1342G>A) c.*1452G>A (n.*1452G>A) c.929G>A (p.Ser310Asn) c.518G>A (p.Ser173Asn) c.458G>A (p.Ser153Asn) c.1142G>A (p.Ser381Asn) c.1112G>A (p.Ser371Asn) c.986G>A (p.Ser329Asn) c.*444G>A (n.*444G>A) | |
16 | g.27362761G>C | CA395298837 | IL4R | c.1409G>C (p.Ser470Thr) c.1364G>C (p.Ser455Thr) c.230-1342G>C (n.230-1342G>C) c.*1452G>C (n.*1452G>C) c.929G>C (p.Ser310Thr) c.518G>C (p.Ser173Thr) c.458G>C (p.Ser153Thr) c.1142G>C (p.Ser381Thr) c.1112G>C (p.Ser371Thr) c.986G>C (p.Ser329Thr) c.*444G>C (n.*444G>C) | gnomAD v4 |
16 | g.27362761G>T | CA395298838 | IL4R | c.1409G>T (p.Ser470Ile) c.1364G>T (p.Ser455Ile) c.230-1342G>T (n.230-1342G>T) c.*1452G>T (n.*1452G>T) c.929G>T (p.Ser310Ile) c.518G>T (p.Ser173Ile) c.458G>T (p.Ser153Ile) c.1142G>T (p.Ser381Ile) c.1112G>T (p.Ser371Ile) c.986G>T (p.Ser329Ile) c.*444G>T (n.*444G>T) | gnomAD v4 |
16 | g.27362761_27362764delinsGTCC | CA2215169732 | IL4R | c.1409_1412delinsGTCC (p.Ser470=) c.1364_1367delinsGTCC (p.Ser455=) c.230-1342_230-1339delinsGTCC (n.230-1342_230-1339delinsGTCC) c.*1452_*1455delinsGTCC (n.*1452_*1455delinsGTCC) c.929_932delinsGTCC (p.Ser310=) c.518_521delinsGTCC (p.Ser173=) c.458_461delinsGTCC (p.Ser153=) c.1142_1145delinsGTCC (p.Ser381=) c.1112_1115delinsGTCC (p.Ser371=) c.986_989delinsGTCC (p.Ser329=) c.*444_*447delinsGTCC (n.*444_*447delinsGTCC) | |
16 | g.27362762T>A | CA395298839 | IL4R | c.1410T>A (p.Ser470Arg) c.1365T>A (p.Ser455Arg) c.230-1341T>A (n.230-1341T>A) c.*1453T>A (n.*1453T>A) c.930T>A (p.Ser310Arg) c.519T>A (p.Ser173Arg) c.459T>A (p.Ser153Arg) c.1143T>A (p.Ser381Arg) c.1113T>A (p.Ser371Arg) c.987T>A (p.Ser329Arg) c.*445T>A (n.*445T>A) | |
16 | g.27362762T>C | CA494470616 | IL4R | c.1410T>C (p.Ser470=) c.1365T>C (p.Ser455=) c.230-1341T>C (n.230-1341T>C) c.*1453T>C (n.*1453T>C) c.930T>C (p.Ser310=) c.519T>C (p.Ser173=) c.459T>C (p.Ser153=) c.1143T>C (p.Ser381=) c.1113T>C (p.Ser371=) c.987T>C (p.Ser329=) c.*445T>C (n.*445T>C) | |
16 | g.27362762T>G | CA395298840 | IL4R | c.1410T>G (p.Ser470Arg) c.1365T>G (p.Ser455Arg) c.230-1341T>G (n.230-1341T>G) c.*1453T>G (n.*1453T>G) c.930T>G (p.Ser310Arg) c.519T>G (p.Ser173Arg) c.459T>G (p.Ser153Arg) c.1143T>G (p.Ser381Arg) c.1113T>G (p.Ser371Arg) c.987T>G (p.Ser329Arg) c.*445T>G (n.*445T>G) | dbSNP |
16 | g.27362762T= | CA2215169733 | IL4R | c.1410T= (p.Ser470=) c.1365T= (p.Ser455=) c.230-1341T= (n.230-1341T=) c.*1453T= (n.*1453T=) c.930T= (p.Ser310=) c.519T= (p.Ser173=) c.459T= (p.Ser153=) c.1143T= (p.Ser381=) c.1113T= (p.Ser371=) c.987T= (p.Ser329=) c.*445T= (n.*445T=) | |
16 | g.27362766_27362768del | CA919683175 | IL4R | c.1414_1416del (p.Pro472del) c.1369_1371del (p.Pro457del) c.230-1337_230-1335del (n.230-1337_230-1335del) c.*1457_*1459del (n.*1457_*1459del) c.934_936del (p.Pro312del) c.523_525del (p.Pro175del) c.463_465del (p.Pro155del) c.1147_1149del (p.Pro383del) c.1117_1119del (p.Pro373del) c.991_993del (p.Pro331del) c.*449_*451del (n.*449_*451del) | dbSNP gnomAD v4 |
16 | g.27362763C>A | CA395298843 | IL4R | c.1411C>A (p.Pro471Thr) c.1366C>A (p.Pro456Thr) c.230-1340C>A (n.230-1340C>A) c.*1454C>A (n.*1454C>A) c.931C>A (p.Pro311Thr) c.520C>A (p.Pro174Thr) c.460C>A (p.Pro154Thr) c.1144C>A (p.Pro382Thr) c.1114C>A (p.Pro372Thr) c.988C>A (p.Pro330Thr) c.*446C>A (n.*446C>A) | |
16 | g.27362763C= | CA2215169737 | IL4R | c.1411C= (p.Pro471=) c.1366C= (p.Pro456=) c.230-1340C= (n.230-1340C=) c.*1454C= (n.*1454C=) c.931C= (p.Pro311=) c.520C= (p.Pro174=) c.460C= (p.Pro154=) c.1144C= (p.Pro382=) c.1114C= (p.Pro372=) c.988C= (p.Pro330=) c.*446C= (n.*446C=) | |
16 | g.27362763C>G | CA395298842 | IL4R | c.1411C>G (p.Pro471Ala) c.1366C>G (p.Pro456Ala) c.230-1340C>G (n.230-1340C>G) c.*1454C>G (n.*1454C>G) c.931C>G (p.Pro311Ala) c.520C>G (p.Pro174Ala) c.460C>G (p.Pro154Ala) c.1144C>G (p.Pro382Ala) c.1114C>G (p.Pro372Ala) c.988C>G (p.Pro330Ala) c.*446C>G (n.*446C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362763C>T | CA395298841 | IL4R | c.1411C>T (p.Pro471Ser) c.1366C>T (p.Pro456Ser) c.230-1340C>T (n.230-1340C>T) c.*1454C>T (n.*1454C>T) c.931C>T (p.Pro311Ser) c.520C>T (p.Pro174Ser) c.460C>T (p.Pro154Ser) c.1144C>T (p.Pro382Ser) c.1114C>T (p.Pro372Ser) c.988C>T (p.Pro330Ser) c.*446C>T (n.*446C>T) | |
16 | g.27362764C>A | CA395298844 | IL4R | c.1412C>A (p.Pro471His) c.1367C>A (p.Pro456His) c.230-1339C>A (n.230-1339C>A) c.*1455C>A (n.*1455C>A) c.932C>A (p.Pro311His) c.521C>A (p.Pro174His) c.461C>A (p.Pro154His) c.1145C>A (p.Pro382His) c.1115C>A (p.Pro372His) c.989C>A (p.Pro330His) c.*447C>A (n.*447C>A) | |
16 | g.27362764C= | CA2215169741 | IL4R | c.1412C= (p.Pro471=) c.1367C= (p.Pro456=) c.230-1339C= (n.230-1339C=) c.*1455C= (n.*1455C=) c.932C= (p.Pro311=) c.521C= (p.Pro174=) c.461C= (p.Pro154=) c.1145C= (p.Pro382=) c.1115C= (p.Pro372=) c.989C= (p.Pro330=) c.*447C= (n.*447C=) | |
16 | g.27362764C>G | CA395298845 | IL4R | c.1412C>G (p.Pro471Arg) c.1367C>G (p.Pro456Arg) c.230-1339C>G (n.230-1339C>G) c.*1455C>G (n.*1455C>G) c.932C>G (p.Pro311Arg) c.521C>G (p.Pro174Arg) c.461C>G (p.Pro154Arg) c.1145C>G (p.Pro382Arg) c.1115C>G (p.Pro372Arg) c.989C>G (p.Pro330Arg) c.*447C>G (n.*447C>G) | |
16 | g.27362764C>T | CA7974555 | IL4R | c.1412C>T (p.Pro471Leu) c.1367C>T (p.Pro456Leu) c.230-1339C>T (n.230-1339C>T) c.*1455C>T (n.*1455C>T) c.932C>T (p.Pro311Leu) c.521C>T (p.Pro174Leu) c.461C>T (p.Pro154Leu) c.1145C>T (p.Pro382Leu) c.1115C>T (p.Pro372Leu) c.989C>T (p.Pro330Leu) c.*447C>T (n.*447C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362765T>A | CA494470620 | IL4R | c.1413T>A (p.Pro471=) c.1368T>A (p.Pro456=) c.230-1338T>A (n.230-1338T>A) c.*1456T>A (n.*1456T>A) c.933T>A (p.Pro311=) c.522T>A (p.Pro174=) c.462T>A (p.Pro154=) c.1146T>A (p.Pro382=) c.1116T>A (p.Pro372=) c.990T>A (p.Pro330=) c.*448T>A (n.*448T>A) | |
16 | g.27362765T>C | CA494470621 | IL4R | c.1413T>C (p.Pro471=) c.1368T>C (p.Pro456=) c.230-1338T>C (n.230-1338T>C) c.*1456T>C (n.*1456T>C) c.933T>C (p.Pro311=) c.522T>C (p.Pro174=) c.462T>C (p.Pro154=) c.1146T>C (p.Pro382=) c.1116T>C (p.Pro372=) c.990T>C (p.Pro330=) c.*448T>C (n.*448T>C) | |
16 | g.27362765T>G | CA494470622 | IL4R | c.1413T>G (p.Pro471=) c.1368T>G (p.Pro456=) c.230-1338T>G (n.230-1338T>G) c.*1456T>G (n.*1456T>G) c.933T>G (p.Pro311=) c.522T>G (p.Pro174=) c.462T>G (p.Pro154=) c.1146T>G (p.Pro382=) c.1116T>G (p.Pro372=) c.990T>G (p.Pro330=) c.*448T>G (n.*448T>G) | |
16 | g.27362766C>A | CA395298846 | IL4R | c.1414C>A (p.Pro472Thr) c.1369C>A (p.Pro457Thr) c.230-1337C>A (n.230-1337C>A) c.*1457C>A (n.*1457C>A) c.934C>A (p.Pro312Thr) c.523C>A (p.Pro175Thr) c.463C>A (p.Pro155Thr) c.1147C>A (p.Pro383Thr) c.1117C>A (p.Pro373Thr) c.991C>A (p.Pro331Thr) c.*449C>A (n.*449C>A) | |
16 | g.27362766C= | CA2215169743 | IL4R | c.1414C= (p.Pro472=) c.1369C= (p.Pro457=) c.230-1337C= (n.230-1337C=) c.*1457C= (n.*1457C=) c.934C= (p.Pro312=) c.523C= (p.Pro175=) c.463C= (p.Pro155=) c.1147C= (p.Pro383=) c.1117C= (p.Pro373=) c.991C= (p.Pro331=) c.*449C= (n.*449C=) | |
16 | g.27362766C>G | CA395298847 | IL4R | c.1414C>G (p.Pro472Ala) c.1369C>G (p.Pro457Ala) c.230-1337C>G (n.230-1337C>G) c.*1457C>G (n.*1457C>G) c.934C>G (p.Pro312Ala) c.523C>G (p.Pro175Ala) c.463C>G (p.Pro155Ala) c.1147C>G (p.Pro383Ala) c.1117C>G (p.Pro373Ala) c.991C>G (p.Pro331Ala) c.*449C>G (n.*449C>G) | |
16 | g.27362766C>T | CA7974556 | IL4R | c.1414C>T (p.Pro472Ser) c.1369C>T (p.Pro457Ser) c.230-1337C>T (n.230-1337C>T) c.*1457C>T (n.*1457C>T) c.934C>T (p.Pro312Ser) c.523C>T (p.Pro175Ser) c.463C>T (p.Pro155Ser) c.1147C>T (p.Pro383Ser) c.1117C>T (p.Pro373Ser) c.991C>T (p.Pro331Ser) c.*449C>T (n.*449C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362767C>A | CA395298848 | IL4R | c.1415C>A (p.Pro472His) c.1370C>A (p.Pro457His) c.230-1336C>A (n.230-1336C>A) c.*1458C>A (n.*1458C>A) c.935C>A (p.Pro312His) c.524C>A (p.Pro175His) c.464C>A (p.Pro155His) c.1148C>A (p.Pro383His) c.1118C>A (p.Pro373His) c.992C>A (p.Pro331His) c.*450C>A (n.*450C>A) | |
16 | g.27362767C= | CA2215169744 | IL4R | c.1415C= (p.Pro472=) c.1370C= (p.Pro457=) c.230-1336C= (n.230-1336C=) c.*1458C= (n.*1458C=) c.935C= (p.Pro312=) c.524C= (p.Pro175=) c.464C= (p.Pro155=) c.1148C= (p.Pro383=) c.1118C= (p.Pro373=) c.992C= (p.Pro331=) c.*450C= (n.*450C=) | |
16 | g.27362767C>G | CA395298849 | IL4R | c.1415C>G (p.Pro472Arg) c.1370C>G (p.Pro457Arg) c.230-1336C>G (n.230-1336C>G) c.*1458C>G (n.*1458C>G) c.935C>G (p.Pro312Arg) c.524C>G (p.Pro175Arg) c.464C>G (p.Pro155Arg) c.1148C>G (p.Pro383Arg) c.1118C>G (p.Pro373Arg) c.992C>G (p.Pro331Arg) c.*450C>G (n.*450C>G) | |
16 | g.27362767C>T | CA7974557 | IL4R | c.1415C>T (p.Pro472Leu) c.1370C>T (p.Pro457Leu) c.230-1336C>T (n.230-1336C>T) c.*1458C>T (n.*1458C>T) c.935C>T (p.Pro312Leu) c.524C>T (p.Pro175Leu) c.464C>T (p.Pro155Leu) c.1148C>T (p.Pro383Leu) c.1118C>T (p.Pro373Leu) c.992C>T (p.Pro331Leu) c.*450C>T (n.*450C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362768T>A | CA494470626 | IL4R | c.1416T>A (p.Pro472=) c.1371T>A (p.Pro457=) c.230-1335T>A (n.230-1335T>A) c.*1459T>A (n.*1459T>A) c.936T>A (p.Pro312=) c.525T>A (p.Pro175=) c.465T>A (p.Pro155=) c.1149T>A (p.Pro383=) c.1119T>A (p.Pro373=) c.993T>A (p.Pro331=) c.*451T>A (n.*451T>A) | |
16 | g.27362768T>C | CA494470628 | IL4R | c.1416T>C (p.Pro472=) c.1371T>C (p.Pro457=) c.230-1335T>C (n.230-1335T>C) c.*1459T>C (n.*1459T>C) c.936T>C (p.Pro312=) c.525T>C (p.Pro175=) c.465T>C (p.Pro155=) c.1149T>C (p.Pro383=) c.1119T>C (p.Pro373=) c.993T>C (p.Pro331=) c.*451T>C (n.*451T>C) | |
16 | g.27362768T>G | CA494470629 | IL4R | c.1416T>G (p.Pro472=) c.1371T>G (p.Pro457=) c.230-1335T>G (n.230-1335T>G) c.*1459T>G (n.*1459T>G) c.936T>G (p.Pro312=) c.525T>G (p.Pro175=) c.465T>G (p.Pro155=) c.1149T>G (p.Pro383=) c.1119T>G (p.Pro373=) c.993T>G (p.Pro331=) c.*451T>G (n.*451T>G) | |
16 | g.27362769G>A | CA395298850 | IL4R | c.1417G>A (p.Ala473Thr) c.1372G>A (p.Ala458Thr) c.230-1334G>A (n.230-1334G>A) c.*1460G>A (n.*1460G>A) c.937G>A (p.Ala313Thr) c.526G>A (p.Ala176Thr) c.466G>A (p.Ala156Thr) c.1150G>A (p.Ala384Thr) c.1120G>A (p.Ala374Thr) c.994G>A (p.Ala332Thr) c.*452G>A (n.*452G>A) | |
16 | g.27362769G>C | CA395298851 | IL4R | c.1417G>C (p.Ala473Pro) c.1372G>C (p.Ala458Pro) c.230-1334G>C (n.230-1334G>C) c.*1460G>C (n.*1460G>C) c.937G>C (p.Ala313Pro) c.526G>C (p.Ala176Pro) c.466G>C (p.Ala156Pro) c.1150G>C (p.Ala384Pro) c.1120G>C (p.Ala374Pro) c.994G>C (p.Ala332Pro) c.*452G>C (n.*452G>C) | |
16 | g.27362769G>T | CA395298852 | IL4R | c.1417G>T (p.Ala473Ser) c.1372G>T (p.Ala458Ser) c.230-1334G>T (n.230-1334G>T) c.*1460G>T (n.*1460G>T) c.937G>T (p.Ala313Ser) c.526G>T (p.Ala176Ser) c.466G>T (p.Ala156Ser) c.1150G>T (p.Ala384Ser) c.1120G>T (p.Ala374Ser) c.994G>T (p.Ala332Ser) c.*452G>T (n.*452G>T) | |
16 | g.27362770C>A | CA395298853 | IL4R | c.1418C>A (p.Ala473Asp) c.1373C>A (p.Ala458Asp) c.230-1333C>A (n.230-1333C>A) c.*1461C>A (n.*1461C>A) c.938C>A (p.Ala313Asp) c.527C>A (p.Ala176Asp) c.467C>A (p.Ala156Asp) c.1151C>A (p.Ala384Asp) c.1121C>A (p.Ala374Asp) c.995C>A (p.Ala332Asp) c.*453C>A (n.*453C>A) | |
16 | g.27362770C= | CA2215169749 | IL4R | c.1418C= (p.Ala473=) c.1373C= (p.Ala458=) c.230-1333C= (n.230-1333C=) c.*1461C= (n.*1461C=) c.938C= (p.Ala313=) c.527C= (p.Ala176=) c.467C= (p.Ala156=) c.1151C= (p.Ala384=) c.1121C= (p.Ala374=) c.995C= (p.Ala332=) c.*453C= (n.*453C=) | |
16 | g.27362770C>G | CA395298854 | IL4R | c.1418C>G (p.Ala473Gly) c.1373C>G (p.Ala458Gly) c.230-1333C>G (n.230-1333C>G) c.*1461C>G (n.*1461C>G) c.938C>G (p.Ala313Gly) c.527C>G (p.Ala176Gly) c.467C>G (p.Ala156Gly) c.1151C>G (p.Ala384Gly) c.1121C>G (p.Ala374Gly) c.995C>G (p.Ala332Gly) c.*453C>G (n.*453C>G) | |
16 | g.27362770C>T | CA7974558 | IL4R | c.1418C>T (p.Ala473Val) c.1373C>T (p.Ala458Val) c.230-1333C>T (n.230-1333C>T) c.*1461C>T (n.*1461C>T) c.938C>T (p.Ala313Val) c.527C>T (p.Ala176Val) c.467C>T (p.Ala156Val) c.1151C>T (p.Ala384Val) c.1121C>T (p.Ala374Val) c.995C>T (p.Ala332Val) c.*453C>T (n.*453C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362771C>A | CA494470631 | IL4R | c.1419C>A (p.Ala473=) c.1374C>A (p.Ala458=) c.230-1332C>A (n.230-1332C>A) c.*1462C>A (n.*1462C>A) c.939C>A (p.Ala313=) c.528C>A (p.Ala176=) c.468C>A (p.Ala156=) c.1152C>A (p.Ala384=) c.1122C>A (p.Ala374=) c.996C>A (p.Ala332=) c.*454C>A (n.*454C>A) | |
16 | g.27362771C= | CA2215169755 | IL4R | c.1419C= (p.Ala473=) c.1374C= (p.Ala458=) c.230-1332C= (n.230-1332C=) c.*1462C= (n.*1462C=) c.939C= (p.Ala313=) c.528C= (p.Ala176=) c.468C= (p.Ala156=) c.1152C= (p.Ala384=) c.1122C= (p.Ala374=) c.996C= (p.Ala332=) c.*454C= (n.*454C=) | |
16 | g.27362771C>G | CA494470634 | IL4R | c.1419C>G (p.Ala473=) c.1374C>G (p.Ala458=) c.230-1332C>G (n.230-1332C>G) c.*1462C>G (n.*1462C>G) c.939C>G (p.Ala313=) c.528C>G (p.Ala176=) c.468C>G (p.Ala156=) c.1152C>G (p.Ala384=) c.1122C>G (p.Ala374=) c.996C>G (p.Ala332=) c.*454C>G (n.*454C>G) | dbSNP |
16 | g.27362771C>T | CA7974559 | IL4R | c.1419C>T (p.Ala473=) c.1374C>T (p.Ala458=) c.230-1332C>T (n.230-1332C>T) c.*1462C>T (n.*1462C>T) c.939C>T (p.Ala313=) c.528C>T (p.Ala176=) c.468C>T (p.Ala156=) c.1152C>T (p.Ala384=) c.1122C>T (p.Ala374=) c.996C>T (p.Ala332=) c.*454C>T (n.*454C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362772A>C | CA395298855 | IL4R | c.1420A>C (p.Ser474Arg) c.1375A>C (p.Ser459Arg) c.230-1331A>C (n.230-1331A>C) c.*1463A>C (n.*1463A>C) c.940A>C (p.Ser314Arg) c.529A>C (p.Ser177Arg) c.469A>C (p.Ser157Arg) c.1153A>C (p.Ser385Arg) c.1123A>C (p.Ser375Arg) c.997A>C (p.Ser333Arg) c.*455A>C (n.*455A>C) | |
16 | g.27362772A>G | CA395298856 | IL4R | c.1420A>G (p.Ser474Gly) c.1375A>G (p.Ser459Gly) c.230-1331A>G (n.230-1331A>G) c.*1463A>G (n.*1463A>G) c.940A>G (p.Ser314Gly) c.529A>G (p.Ser177Gly) c.469A>G (p.Ser157Gly) c.1153A>G (p.Ser385Gly) c.1123A>G (p.Ser375Gly) c.997A>G (p.Ser333Gly) c.*455A>G (n.*455A>G) | |
16 | g.27362772A>T | CA395298857 | IL4R | c.1420A>T (p.Ser474Cys) c.1375A>T (p.Ser459Cys) c.230-1331A>T (n.230-1331A>T) c.*1463A>T (n.*1463A>T) c.940A>T (p.Ser314Cys) c.529A>T (p.Ser177Cys) c.469A>T (p.Ser157Cys) c.1153A>T (p.Ser385Cys) c.1123A>T (p.Ser375Cys) c.997A>T (p.Ser333Cys) c.*455A>T (n.*455A>T) | |
16 | g.27362773G>A | CA279686846 | IL4R | c.1421G>A (p.Ser474Asn) c.1376G>A (p.Ser459Asn) c.230-1330G>A (n.230-1330G>A) c.*1464G>A (n.*1464G>A) c.941G>A (p.Ser314Asn) c.530G>A (p.Ser177Asn) c.470G>A (p.Ser157Asn) c.1154G>A (p.Ser385Asn) c.1124G>A (p.Ser375Asn) c.998G>A (p.Ser333Asn) c.*456G>A (n.*456G>A) | dbSNP gnomAD v4 |
16 | g.27362773G>C | CA395298858 | IL4R | c.1421G>C (p.Ser474Thr) c.1376G>C (p.Ser459Thr) c.230-1330G>C (n.230-1330G>C) c.*1464G>C (n.*1464G>C) c.941G>C (p.Ser314Thr) c.530G>C (p.Ser177Thr) c.470G>C (p.Ser157Thr) c.1154G>C (p.Ser385Thr) c.1124G>C (p.Ser375Thr) c.998G>C (p.Ser333Thr) c.*456G>C (n.*456G>C) | |
16 | g.27362773G= | CA2215169764 | IL4R | c.1421G= (p.Ser474=) c.1376G= (p.Ser459=) c.230-1330G= (n.230-1330G=) c.*1464G= (n.*1464G=) c.941G= (p.Ser314=) c.530G= (p.Ser177=) c.470G= (p.Ser157=) c.1154G= (p.Ser385=) c.1124G= (p.Ser375=) c.998G= (p.Ser333=) c.*456G= (n.*456G=) | |
16 | g.27362773G>T | CA395298859 | IL4R | c.1421G>T (p.Ser474Ile) c.1376G>T (p.Ser459Ile) c.230-1330G>T (n.230-1330G>T) c.*1464G>T (n.*1464G>T) c.941G>T (p.Ser314Ile) c.530G>T (p.Ser177Ile) c.470G>T (p.Ser157Ile) c.1154G>T (p.Ser385Ile) c.1124G>T (p.Ser375Ile) c.998G>T (p.Ser333Ile) c.*456G>T (n.*456G>T) | |
16 | g.27362774C>A | CA395298860 | IL4R | c.1422C>A (p.Ser474Arg) c.1377C>A (p.Ser459Arg) c.230-1329C>A (n.230-1329C>A) c.*1465C>A (n.*1465C>A) c.942C>A (p.Ser314Arg) c.531C>A (p.Ser177Arg) c.471C>A (p.Ser157Arg) c.1155C>A (p.Ser385Arg) c.1125C>A (p.Ser375Arg) c.999C>A (p.Ser333Arg) c.*457C>A (n.*457C>A) | |
16 | g.27362774C= | CA2215169765 | IL4R | c.1422C= (p.Ser474=) c.1377C= (p.Ser459=) c.230-1329C= (n.230-1329C=) c.*1465C= (n.*1465C=) c.942C= (p.Ser314=) c.531C= (p.Ser177=) c.471C= (p.Ser157=) c.1155C= (p.Ser385=) c.1125C= (p.Ser375=) c.999C= (p.Ser333=) c.*457C= (n.*457C=) | |
16 | g.27362774C>G | CA395298861 | IL4R | c.1422C>G (p.Ser474Arg) c.1377C>G (p.Ser459Arg) c.230-1329C>G (n.230-1329C>G) c.*1465C>G (n.*1465C>G) c.942C>G (p.Ser314Arg) c.531C>G (p.Ser177Arg) c.471C>G (p.Ser157Arg) c.1155C>G (p.Ser385Arg) c.1125C>G (p.Ser375Arg) c.999C>G (p.Ser333Arg) c.*457C>G (n.*457C>G) | |
16 | g.27362774C>T | CA494470636 | IL4R | c.1422C>T (p.Ser474=) c.1377C>T (p.Ser459=) c.230-1329C>T (n.230-1329C>T) c.*1465C>T (n.*1465C>T) c.942C>T (p.Ser314=) c.531C>T (p.Ser177=) c.471C>T (p.Ser157=) c.1155C>T (p.Ser385=) c.1125C>T (p.Ser375=) c.999C>T (p.Ser333=) c.*457C>T (n.*457C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362775C>A | CA7974560 | IL4R | c.1423C>A (p.Pro475Thr) c.1378C>A (p.Pro460Thr) c.230-1328C>A (n.230-1328C>A) c.*1466C>A (n.*1466C>A) c.943C>A (p.Pro315Thr) c.532C>A (p.Pro178Thr) c.472C>A (p.Pro158Thr) c.1156C>A (p.Pro386Thr) c.1126C>A (p.Pro376Thr) c.1000C>A (p.Pro334Thr) c.*458C>A (n.*458C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362775C= | CA2215169767 | IL4R | c.1423C= (p.Pro475=) c.1378C= (p.Pro460=) c.230-1328C= (n.230-1328C=) c.*1466C= (n.*1466C=) c.943C= (p.Pro315=) c.532C= (p.Pro178=) c.472C= (p.Pro158=) c.1156C= (p.Pro386=) c.1126C= (p.Pro376=) c.1000C= (p.Pro334=) c.*458C= (n.*458C=) | |
16 | g.27362775C>G | CA395298862 | IL4R | c.1423C>G (p.Pro475Ala) c.1378C>G (p.Pro460Ala) c.230-1328C>G (n.230-1328C>G) c.*1466C>G (n.*1466C>G) c.943C>G (p.Pro315Ala) c.532C>G (p.Pro178Ala) c.472C>G (p.Pro158Ala) c.1156C>G (p.Pro386Ala) c.1126C>G (p.Pro376Ala) c.1000C>G (p.Pro334Ala) c.*458C>G (n.*458C>G) | |
16 | g.27362775C>T | CA395298863 | IL4R | c.1423C>T (p.Pro475Ser) c.1378C>T (p.Pro460Ser) c.230-1328C>T (n.230-1328C>T) c.*1466C>T (n.*1466C>T) c.943C>T (p.Pro315Ser) c.532C>T (p.Pro178Ser) c.472C>T (p.Pro158Ser) c.1156C>T (p.Pro386Ser) c.1126C>T (p.Pro376Ser) c.1000C>T (p.Pro334Ser) c.*458C>T (n.*458C>T) | COSMIC |
16 | g.27362776C>A | CA395298864 | IL4R | c.1424C>A (p.Pro475Gln) c.1379C>A (p.Pro460Gln) c.230-1327C>A (n.230-1327C>A) c.*1467C>A (n.*1467C>A) c.944C>A (p.Pro315Gln) c.533C>A (p.Pro178Gln) c.473C>A (p.Pro158Gln) c.1157C>A (p.Pro386Gln) c.1127C>A (p.Pro376Gln) c.1001C>A (p.Pro334Gln) c.*459C>A (n.*459C>A) | |
16 | g.27362776C= | CA2215169772 | IL4R | c.1424C= (p.Pro475=) c.1379C= (p.Pro460=) c.230-1327C= (n.230-1327C=) c.*1467C= (n.*1467C=) c.944C= (p.Pro315=) c.533C= (p.Pro178=) c.473C= (p.Pro158=) c.1157C= (p.Pro386=) c.1127C= (p.Pro376=) c.1001C= (p.Pro334=) c.*459C= (n.*459C=) | |
16 | g.27362776C>G | CA395298865 | IL4R | c.1424C>G (p.Pro475Arg) c.1379C>G (p.Pro460Arg) c.230-1327C>G (n.230-1327C>G) c.*1467C>G (n.*1467C>G) c.944C>G (p.Pro315Arg) c.533C>G (p.Pro178Arg) c.473C>G (p.Pro158Arg) c.1157C>G (p.Pro386Arg) c.1127C>G (p.Pro376Arg) c.1001C>G (p.Pro334Arg) c.*459C>G (n.*459C>G) | gnomAD v4 COSMIC |
16 | g.27362776C>T | CA7974561 | IL4R | c.1424C>T (p.Pro475Leu) c.1379C>T (p.Pro460Leu) c.230-1327C>T (n.230-1327C>T) c.*1467C>T (n.*1467C>T) c.944C>T (p.Pro315Leu) c.533C>T (p.Pro178Leu) c.473C>T (p.Pro158Leu) c.1157C>T (p.Pro386Leu) c.1127C>T (p.Pro376Leu) c.1001C>T (p.Pro334Leu) c.*459C>T (n.*459C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362777G>A | CA7974562 | IL4R | c.1425G>A (p.Pro475=) c.1380G>A (p.Pro460=) c.230-1326G>A (n.230-1326G>A) c.*1468G>A (n.*1468G>A) c.945G>A (p.Pro315=) c.534G>A (p.Pro178=) c.474G>A (p.Pro158=) c.1158G>A (p.Pro386=) c.1128G>A (p.Pro376=) c.1002G>A (p.Pro334=) c.*460G>A (n.*460G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362777G>C | CA494470641 | IL4R | c.1425G>C (p.Pro475=) c.1380G>C (p.Pro460=) c.230-1326G>C (n.230-1326G>C) c.*1468G>C (n.*1468G>C) c.945G>C (p.Pro315=) c.534G>C (p.Pro178=) c.474G>C (p.Pro158=) c.1158G>C (p.Pro386=) c.1128G>C (p.Pro376=) c.1002G>C (p.Pro334=) c.*460G>C (n.*460G>C) | |
16 | g.27362777G= | CA2215169774 | IL4R | c.1425G= (p.Pro475=) c.1380G= (p.Pro460=) c.230-1326G= (n.230-1326G=) c.*1468G= (n.*1468G=) c.945G= (p.Pro315=) c.534G= (p.Pro178=) c.474G= (p.Pro158=) c.1158G= (p.Pro386=) c.1128G= (p.Pro376=) c.1002G= (p.Pro334=) c.*460G= (n.*460G=) | |
16 | g.27362777G>T | CA494470643 | IL4R | c.1425G>T (p.Pro475=) c.1380G>T (p.Pro460=) c.230-1326G>T (n.230-1326G>T) c.*1468G>T (n.*1468G>T) c.945G>T (p.Pro315=) c.534G>T (p.Pro178=) c.474G>T (p.Pro158=) c.1158G>T (p.Pro386=) c.1128G>T (p.Pro376=) c.1002G>T (p.Pro334=) c.*460G>T (n.*460G>T) | |
16 | g.27362778A>C | CA395298866 | IL4R | c.1426A>C (p.Thr476Pro) c.1381A>C (p.Thr461Pro) c.230-1325A>C (n.230-1325A>C) c.*1469A>C (n.*1469A>C) c.946A>C (p.Thr316Pro) c.535A>C (p.Thr179Pro) c.475A>C (p.Thr159Pro) c.1159A>C (p.Thr387Pro) c.1129A>C (p.Thr377Pro) c.1003A>C (p.Thr335Pro) c.*461A>C (n.*461A>C) | |
16 | g.27362778A>G | CA395298867 | IL4R | c.1426A>G (p.Thr476Ala) c.1381A>G (p.Thr461Ala) c.230-1325A>G (n.230-1325A>G) c.*1469A>G (n.*1469A>G) c.946A>G (p.Thr316Ala) c.535A>G (p.Thr179Ala) c.475A>G (p.Thr159Ala) c.1159A>G (p.Thr387Ala) c.1129A>G (p.Thr377Ala) c.1003A>G (p.Thr335Ala) c.*461A>G (n.*461A>G) | |
16 | g.27362778A>T | CA395298868 | IL4R | c.1426A>T (p.Thr476Ser) c.1381A>T (p.Thr461Ser) c.230-1325A>T (n.230-1325A>T) c.*1469A>T (n.*1469A>T) c.946A>T (p.Thr316Ser) c.535A>T (p.Thr179Ser) c.475A>T (p.Thr159Ser) c.1159A>T (p.Thr387Ser) c.1129A>T (p.Thr377Ser) c.1003A>T (p.Thr335Ser) c.*461A>T (n.*461A>T) | gnomAD v4 |
16 | g.27362779C>A | CA395298869 | IL4R | c.1427C>A (p.Thr476Asn) c.1382C>A (p.Thr461Asn) c.230-1324C>A (n.230-1324C>A) c.*1470C>A (n.*1470C>A) c.947C>A (p.Thr316Asn) c.536C>A (p.Thr179Asn) c.476C>A (p.Thr159Asn) c.1160C>A (p.Thr387Asn) c.1130C>A (p.Thr377Asn) c.1004C>A (p.Thr335Asn) c.*462C>A (n.*462C>A) | gnomAD v4 |
16 | g.27362779C>G | CA395298870 | IL4R | c.1427C>G (p.Thr476Ser) c.1382C>G (p.Thr461Ser) c.230-1324C>G (n.230-1324C>G) c.*1470C>G (n.*1470C>G) c.947C>G (p.Thr316Ser) c.536C>G (p.Thr179Ser) c.476C>G (p.Thr159Ser) c.1160C>G (p.Thr387Ser) c.1130C>G (p.Thr377Ser) c.1004C>G (p.Thr335Ser) c.*462C>G (n.*462C>G) | |
16 | g.27362779C>T | CA395298871 | IL4R | c.1427C>T (p.Thr476Ile) c.1382C>T (p.Thr461Ile) c.230-1324C>T (n.230-1324C>T) c.*1470C>T (n.*1470C>T) c.947C>T (p.Thr316Ile) c.536C>T (p.Thr179Ile) c.476C>T (p.Thr159Ile) c.1160C>T (p.Thr387Ile) c.1130C>T (p.Thr377Ile) c.1004C>T (p.Thr335Ile) c.*462C>T (n.*462C>T) | |
16 | g.27362780C>A | CA494470645 | IL4R | c.1428C>A (p.Thr476=) c.1383C>A (p.Thr461=) c.230-1323C>A (n.230-1323C>A) c.*1471C>A (n.*1471C>A) c.948C>A (p.Thr316=) c.537C>A (p.Thr179=) c.477C>A (p.Thr159=) c.1161C>A (p.Thr387=) c.1131C>A (p.Thr377=) c.1005C>A (p.Thr335=) c.*463C>A (n.*463C>A) | |
16 | g.27362780C= | CA2215169775 | IL4R | c.1428C= (p.Thr476=) c.1383C= (p.Thr461=) c.230-1323C= (n.230-1323C=) c.*1471C= (n.*1471C=) c.948C= (p.Thr316=) c.537C= (p.Thr179=) c.477C= (p.Thr159=) c.1161C= (p.Thr387=) c.1131C= (p.Thr377=) c.1005C= (p.Thr335=) c.*463C= (n.*463C=) | |
16 | g.27362780C>G | CA494470646 | IL4R | c.1428C>G (p.Thr476=) c.1383C>G (p.Thr461=) c.230-1323C>G (n.230-1323C>G) c.*1471C>G (n.*1471C>G) c.948C>G (p.Thr316=) c.537C>G (p.Thr179=) c.477C>G (p.Thr159=) c.1161C>G (p.Thr387=) c.1131C>G (p.Thr377=) c.1005C>G (p.Thr335=) c.*463C>G (n.*463C>G) | |
16 | g.27362780C>T | CA494470647 | IL4R | c.1428C>T (p.Thr476=) c.1383C>T (p.Thr461=) c.230-1323C>T (n.230-1323C>T) c.*1471C>T (n.*1471C>T) c.948C>T (p.Thr316=) c.537C>T (p.Thr179=) c.477C>T (p.Thr159=) c.1161C>T (p.Thr387=) c.1131C>T (p.Thr377=) c.1005C>T (p.Thr335=) c.*463C>T (n.*463C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362781C>A | CA395298872 | IL4R | c.1429C>A (p.Gln477Lys) c.1384C>A (p.Gln462Lys) c.230-1322C>A (n.230-1322C>A) c.*1472C>A (n.*1472C>A) c.949C>A (p.Gln317Lys) c.538C>A (p.Gln180Lys) c.478C>A (p.Gln160Lys) c.1162C>A (p.Gln388Lys) c.1132C>A (p.Gln378Lys) c.1006C>A (p.Gln336Lys) c.*464C>A (n.*464C>A) | |
16 | g.27362781C>G | CA395298873 | IL4R | c.1429C>G (p.Gln477Glu) c.1384C>G (p.Gln462Glu) c.230-1322C>G (n.230-1322C>G) c.*1472C>G (n.*1472C>G) c.949C>G (p.Gln317Glu) c.538C>G (p.Gln180Glu) c.478C>G (p.Gln160Glu) c.1162C>G (p.Gln388Glu) c.1132C>G (p.Gln378Glu) c.1006C>G (p.Gln336Glu) c.*464C>G (n.*464C>G) | |
16 | g.27362781C>T | CA395298874 | IL4R | c.1429C>T (p.Gln477Ter) c.1384C>T (p.Gln462Ter) c.230-1322C>T (n.230-1322C>T) c.*1472C>T (n.*1472C>T) c.949C>T (p.Gln317Ter) c.538C>T (p.Gln180Ter) c.478C>T (p.Gln160Ter) c.1162C>T (p.Gln388Ter) c.1132C>T (p.Gln378Ter) c.1006C>T (p.Gln336Ter) c.*464C>T (n.*464C>T) | |
16 | g.27362782A= | CA2215169776 | IL4R | c.1430A= (p.Gln477=) c.1385A= (p.Gln462=) c.230-1321A= (n.230-1321A=) c.*1473A= (n.*1473A=) c.950A= (p.Gln317=) c.539A= (p.Gln180=) c.479A= (p.Gln160=) c.1163A= (p.Gln388=) c.1133A= (p.Gln378=) c.1007A= (p.Gln336=) c.*465A= (n.*465A=) | |
16 | g.27362782A>C | CA395298875 | IL4R | c.1430A>C (p.Gln477Pro) c.1385A>C (p.Gln462Pro) c.230-1321A>C (n.230-1321A>C) c.*1473A>C (n.*1473A>C) c.950A>C (p.Gln317Pro) c.539A>C (p.Gln180Pro) c.479A>C (p.Gln160Pro) c.1163A>C (p.Gln388Pro) c.1133A>C (p.Gln378Pro) c.1007A>C (p.Gln336Pro) c.*465A>C (n.*465A>C) | |
16 | g.27362782A>G | CA395298876 | IL4R | c.1430A>G (p.Gln477Arg) c.1385A>G (p.Gln462Arg) c.230-1321A>G (n.230-1321A>G) c.*1473A>G (n.*1473A>G) c.950A>G (p.Gln317Arg) c.539A>G (p.Gln180Arg) c.479A>G (p.Gln160Arg) c.1163A>G (p.Gln388Arg) c.1133A>G (p.Gln378Arg) c.1007A>G (p.Gln336Arg) c.*465A>G (n.*465A>G) | dbSNP |
16 | g.27362782A>T | CA395298877 | IL4R | c.1430A>T (p.Gln477Leu) c.1385A>T (p.Gln462Leu) c.230-1321A>T (n.230-1321A>T) c.*1473A>T (n.*1473A>T) c.950A>T (p.Gln317Leu) c.539A>T (p.Gln180Leu) c.479A>T (p.Gln160Leu) c.1163A>T (p.Gln388Leu) c.1133A>T (p.Gln378Leu) c.1007A>T (p.Gln336Leu) c.*465A>T (n.*465A>T) | |
16 | g.27362783G>A | CA494470657 | IL4R | c.1431G>A (p.Gln477=) c.1386G>A (p.Gln462=) c.230-1320G>A (n.230-1320G>A) c.*1474G>A (n.*1474G>A) c.951G>A (p.Gln317=) c.540G>A (p.Gln180=) c.480G>A (p.Gln160=) c.1164G>A (p.Gln388=) c.1134G>A (p.Gln378=) c.1008G>A (p.Gln336=) c.*466G>A (n.*466G>A) | |
16 | g.27362783G>C | CA395298878 | IL4R | c.1431G>C (p.Gln477His) c.1386G>C (p.Gln462His) c.230-1320G>C (n.230-1320G>C) c.*1474G>C (n.*1474G>C) c.951G>C (p.Gln317His) c.540G>C (p.Gln180His) c.480G>C (p.Gln160His) c.1164G>C (p.Gln388His) c.1134G>C (p.Gln378His) c.1008G>C (p.Gln336His) c.*466G>C (n.*466G>C) | |
16 | g.27362783G>T | CA395298879 | IL4R | c.1431G>T (p.Gln477His) c.1386G>T (p.Gln462His) c.230-1320G>T (n.230-1320G>T) c.*1474G>T (n.*1474G>T) c.951G>T (p.Gln317His) c.540G>T (p.Gln180His) c.480G>T (p.Gln160His) c.1164G>T (p.Gln388His) c.1134G>T (p.Gln378His) c.1008G>T (p.Gln336His) c.*466G>T (n.*466G>T) | |
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) |