Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.27362614del | CA2632431249 | IL4R | c.1262del (p.Gly421AlafsTer?) c.1217del (p.Gly406AlafsTer?) c.230-1489del (n.230-1489del) c.*1305del (n.*1305del) c.782del (p.Gly261AlafsTer?) c.371del (p.Gly124AlafsTer?) c.311del (p.Gly104AlafsTer?) c.995del (p.Gly332AlafsTer?) c.965del (p.Gly322AlafsTer?) c.839del (p.Gly280AlafsTer?) c.*297del (n.*297del) | gnomAD v4 |
16 | g.27362612G>A | CA494470450 | IL4R | c.1260G>A (p.Gly420=) c.1215G>A (p.Gly405=) c.230-1491G>A (n.230-1491G>A) c.*1303G>A (n.*1303G>A) c.780G>A (p.Gly260=) c.369G>A (p.Gly123=) c.309G>A (p.Gly103=) c.993G>A (p.Gly331=) c.963G>A (p.Gly321=) c.837G>A (p.Gly279=) c.*295G>A (n.*295G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362612G>C | CA494470444 | IL4R | c.1260G>C (p.Gly420=) c.1215G>C (p.Gly405=) c.230-1491G>C (n.230-1491G>C) c.*1303G>C (n.*1303G>C) c.780G>C (p.Gly260=) c.369G>C (p.Gly123=) c.309G>C (p.Gly103=) c.993G>C (p.Gly331=) c.963G>C (p.Gly321=) c.837G>C (p.Gly279=) c.*295G>C (n.*295G>C) | |
16 | g.27362612G= | CA2215169532 | IL4R | c.1260G= (p.Gly420=) c.1215G= (p.Gly405=) c.230-1491G= (n.230-1491G=) c.*1303G= (n.*1303G=) c.780G= (p.Gly260=) c.369G= (p.Gly123=) c.309G= (p.Gly103=) c.993G= (p.Gly331=) c.963G= (p.Gly321=) c.837G= (p.Gly279=) c.*295G= (n.*295G=) | |
16 | g.27362612G>T | CA7974526 | IL4R | c.1260G>T (p.Gly420=) c.1215G>T (p.Gly405=) c.230-1491G>T (n.230-1491G>T) c.*1303G>T (n.*1303G>T) c.780G>T (p.Gly260=) c.369G>T (p.Gly123=) c.309G>T (p.Gly103=) c.993G>T (p.Gly331=) c.963G>T (p.Gly321=) c.837G>T (p.Gly279=) c.*295G>T (n.*295G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362613G>A | CA395298200 | IL4R | c.1261G>A (p.Gly421Ser) c.1216G>A (p.Gly406Ser) c.230-1490G>A (n.230-1490G>A) c.*1304G>A (n.*1304G>A) c.781G>A (p.Gly261Ser) c.370G>A (p.Gly124Ser) c.310G>A (p.Gly104Ser) c.994G>A (p.Gly332Ser) c.964G>A (p.Gly322Ser) c.838G>A (p.Gly280Ser) c.*296G>A (n.*296G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362613G>C | CA395298196 | IL4R | c.1261G>C (p.Gly421Arg) c.1216G>C (p.Gly406Arg) c.230-1490G>C (n.230-1490G>C) c.*1304G>C (n.*1304G>C) c.781G>C (p.Gly261Arg) c.370G>C (p.Gly124Arg) c.310G>C (p.Gly104Arg) c.994G>C (p.Gly332Arg) c.964G>C (p.Gly322Arg) c.838G>C (p.Gly280Arg) c.*296G>C (n.*296G>C) | |
16 | g.27362613G= | CA2215169535 | IL4R | c.1261G= (p.Gly421=) c.1216G= (p.Gly406=) c.230-1490G= (n.230-1490G=) c.*1304G= (n.*1304G=) c.781G= (p.Gly261=) c.370G= (p.Gly124=) c.310G= (p.Gly104=) c.994G= (p.Gly332=) c.964G= (p.Gly322=) c.838G= (p.Gly280=) c.*296G= (n.*296G=) | |
16 | g.27362613G>T | CA395298197 | IL4R | c.1261G>T (p.Gly421Cys) c.1216G>T (p.Gly406Cys) c.230-1490G>T (n.230-1490G>T) c.*1304G>T (n.*1304G>T) c.781G>T (p.Gly261Cys) c.370G>T (p.Gly124Cys) c.310G>T (p.Gly104Cys) c.994G>T (p.Gly332Cys) c.964G>T (p.Gly322Cys) c.838G>T (p.Gly280Cys) c.*296G>T (n.*296G>T) | |
16 | g.27362614G>A | CA395298202 | IL4R | c.1262G>A (p.Gly421Asp) c.1217G>A (p.Gly406Asp) c.230-1489G>A (n.230-1489G>A) c.*1305G>A (n.*1305G>A) c.782G>A (p.Gly261Asp) c.371G>A (p.Gly124Asp) c.311G>A (p.Gly104Asp) c.995G>A (p.Gly332Asp) c.965G>A (p.Gly322Asp) c.839G>A (p.Gly280Asp) c.*297G>A (n.*297G>A) | |
16 | g.27362614G>C | CA395298204 | IL4R | c.1262G>C (p.Gly421Ala) c.1217G>C (p.Gly406Ala) c.230-1489G>C (n.230-1489G>C) c.*1305G>C (n.*1305G>C) c.782G>C (p.Gly261Ala) c.371G>C (p.Gly124Ala) c.311G>C (p.Gly104Ala) c.995G>C (p.Gly332Ala) c.965G>C (p.Gly322Ala) c.839G>C (p.Gly280Ala) c.*297G>C (n.*297G>C) | |
16 | g.27362614G>T | CA395298206 | IL4R | c.1262G>T (p.Gly421Val) c.1217G>T (p.Gly406Val) c.230-1489G>T (n.230-1489G>T) c.*1305G>T (n.*1305G>T) c.782G>T (p.Gly261Val) c.371G>T (p.Gly124Val) c.311G>T (p.Gly104Val) c.995G>T (p.Gly332Val) c.965G>T (p.Gly322Val) c.839G>T (p.Gly280Val) c.*297G>T (n.*297G>T) | |
16 | g.27362615C>A | CA494470455 | IL4R | c.1263C>A (p.Gly421=) c.1218C>A (p.Gly406=) c.230-1488C>A (n.230-1488C>A) c.*1306C>A (n.*1306C>A) c.783C>A (p.Gly261=) c.372C>A (p.Gly124=) c.312C>A (p.Gly104=) c.996C>A (p.Gly332=) c.966C>A (p.Gly322=) c.840C>A (p.Gly280=) c.*298C>A (n.*298C>A) | |
16 | g.27362615C>G | CA494470456 | IL4R | c.1263C>G (p.Gly421=) c.1218C>G (p.Gly406=) c.230-1488C>G (n.230-1488C>G) c.*1306C>G (n.*1306C>G) c.783C>G (p.Gly261=) c.372C>G (p.Gly124=) c.312C>G (p.Gly104=) c.996C>G (p.Gly332=) c.966C>G (p.Gly322=) c.840C>G (p.Gly280=) c.*298C>G (n.*298C>G) | |
16 | g.27362615C>T | CA494470457 | IL4R | c.1263C>T (p.Gly421=) c.1218C>T (p.Gly406=) c.230-1488C>T (n.230-1488C>T) c.*1306C>T (n.*1306C>T) c.783C>T (p.Gly261=) c.372C>T (p.Gly124=) c.312C>T (p.Gly104=) c.996C>T (p.Gly332=) c.966C>T (p.Gly322=) c.840C>T (p.Gly280=) c.*298C>T (n.*298C>T) | |
16 | g.27362616T>A | CA395298208 | IL4R | c.1264T>A (p.Phe422Ile) c.1219T>A (p.Phe407Ile) c.230-1487T>A (n.230-1487T>A) c.*1307T>A (n.*1307T>A) c.784T>A (p.Phe262Ile) c.373T>A (p.Phe125Ile) c.313T>A (p.Phe105Ile) c.997T>A (p.Phe333Ile) c.967T>A (p.Phe323Ile) c.841T>A (p.Phe281Ile) c.*299T>A (n.*299T>A) | |
16 | g.27362616T>C | CA395298210 | IL4R | c.1264T>C (p.Phe422Leu) c.1219T>C (p.Phe407Leu) c.230-1487T>C (n.230-1487T>C) c.*1307T>C (n.*1307T>C) c.784T>C (p.Phe262Leu) c.373T>C (p.Phe125Leu) c.313T>C (p.Phe105Leu) c.997T>C (p.Phe333Leu) c.967T>C (p.Phe323Leu) c.841T>C (p.Phe281Leu) c.*299T>C (n.*299T>C) | |
16 | g.27362616T>G | CA395298212 | IL4R | c.1264T>G (p.Phe422Val) c.1219T>G (p.Phe407Val) c.230-1487T>G (n.230-1487T>G) c.*1307T>G (n.*1307T>G) c.784T>G (p.Phe262Val) c.373T>G (p.Phe125Val) c.313T>G (p.Phe105Val) c.997T>G (p.Phe333Val) c.967T>G (p.Phe323Val) c.841T>G (p.Phe281Val) c.*299T>G (n.*299T>G) | |
16 | g.27362617T>A | CA395298215 | IL4R | c.1265T>A (p.Phe422Tyr) c.1220T>A (p.Phe407Tyr) c.230-1486T>A (n.230-1486T>A) c.*1308T>A (n.*1308T>A) c.785T>A (p.Phe262Tyr) c.374T>A (p.Phe125Tyr) c.314T>A (p.Phe105Tyr) c.998T>A (p.Phe333Tyr) c.968T>A (p.Phe323Tyr) c.842T>A (p.Phe281Tyr) c.*300T>A (n.*300T>A) | |
16 | g.27362617T>C | CA395298216 | IL4R | c.1265T>C (p.Phe422Ser) c.1220T>C (p.Phe407Ser) c.230-1486T>C (n.230-1486T>C) c.*1308T>C (n.*1308T>C) c.785T>C (p.Phe262Ser) c.374T>C (p.Phe125Ser) c.314T>C (p.Phe105Ser) c.998T>C (p.Phe333Ser) c.968T>C (p.Phe323Ser) c.842T>C (p.Phe281Ser) c.*300T>C (n.*300T>C) | |
16 | g.27362617T>G | CA395298218 | IL4R | c.1265T>G (p.Phe422Cys) c.1220T>G (p.Phe407Cys) c.230-1486T>G (n.230-1486T>G) c.*1308T>G (n.*1308T>G) c.785T>G (p.Phe262Cys) c.374T>G (p.Phe125Cys) c.314T>G (p.Phe105Cys) c.998T>G (p.Phe333Cys) c.968T>G (p.Phe323Cys) c.842T>G (p.Phe281Cys) c.*300T>G (n.*300T>G) | |
16 | g.27362618T>A | CA395298221 | IL4R | c.1266T>A (p.Phe422Leu) c.1221T>A (p.Phe407Leu) c.230-1485T>A (n.230-1485T>A) c.*1309T>A (n.*1309T>A) c.786T>A (p.Phe262Leu) c.375T>A (p.Phe125Leu) c.315T>A (p.Phe105Leu) c.999T>A (p.Phe333Leu) c.969T>A (p.Phe323Leu) c.843T>A (p.Phe281Leu) c.*301T>A (n.*301T>A) | |
16 | g.27362618T>C | CA494470462 | IL4R | c.1266T>C (p.Phe422=) c.1221T>C (p.Phe407=) c.230-1485T>C (n.230-1485T>C) c.*1309T>C (n.*1309T>C) c.786T>C (p.Phe262=) c.375T>C (p.Phe125=) c.315T>C (p.Phe105=) c.999T>C (p.Phe333=) c.969T>C (p.Phe323=) c.843T>C (p.Phe281=) c.*301T>C (n.*301T>C) | |
16 | g.27362618T>G | CA395298222 | IL4R | c.1266T>G (p.Phe422Leu) c.1221T>G (p.Phe407Leu) c.230-1485T>G (n.230-1485T>G) c.*1309T>G (n.*1309T>G) c.786T>G (p.Phe262Leu) c.375T>G (p.Phe125Leu) c.315T>G (p.Phe105Leu) c.999T>G (p.Phe333Leu) c.969T>G (p.Phe323Leu) c.843T>G (p.Phe281Leu) c.*301T>G (n.*301T>G) | |
16 | g.27362619T>A | CA395298225 | IL4R | c.1267T>A (p.Cys423Ser) c.1222T>A (p.Cys408Ser) c.230-1484T>A (n.230-1484T>A) c.*1310T>A (n.*1310T>A) c.787T>A (p.Cys263Ser) c.376T>A (p.Cys126Ser) c.316T>A (p.Cys106Ser) c.1000T>A (p.Cys334Ser) c.970T>A (p.Cys324Ser) c.844T>A (p.Cys282Ser) c.*302T>A (n.*302T>A) | |
16 | g.27362619T>C | CA395298226 | IL4R | c.1267T>C (p.Cys423Arg) c.1222T>C (p.Cys408Arg) c.230-1484T>C (n.230-1484T>C) c.*1310T>C (n.*1310T>C) c.787T>C (p.Cys263Arg) c.376T>C (p.Cys126Arg) c.316T>C (p.Cys106Arg) c.1000T>C (p.Cys334Arg) c.970T>C (p.Cys324Arg) c.844T>C (p.Cys282Arg) c.*302T>C (n.*302T>C) | |
16 | g.27362619T>G | CA7974527 | IL4R | c.1267T>G (p.Cys423Gly) c.1222T>G (p.Cys408Gly) c.230-1484T>G (n.230-1484T>G) c.*1310T>G (n.*1310T>G) c.787T>G (p.Cys263Gly) c.376T>G (p.Cys126Gly) c.316T>G (p.Cys106Gly) c.1000T>G (p.Cys334Gly) c.970T>G (p.Cys324Gly) c.844T>G (p.Cys282Gly) c.*302T>G (n.*302T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362619T= | CA2215169537 | IL4R | c.1267T= (p.Cys423=) c.1222T= (p.Cys408=) c.230-1484T= (n.230-1484T=) c.*1310T= (n.*1310T=) c.787T= (p.Cys263=) c.376T= (p.Cys126=) c.316T= (p.Cys106=) c.1000T= (p.Cys334=) c.970T= (p.Cys324=) c.844T= (p.Cys282=) c.*302T= (n.*302T=) | |
16 | g.27362620G>A | CA395298229 | IL4R | c.1268G>A (p.Cys423Tyr) c.1223G>A (p.Cys408Tyr) c.230-1483G>A (n.230-1483G>A) c.*1311G>A (n.*1311G>A) c.788G>A (p.Cys263Tyr) c.377G>A (p.Cys126Tyr) c.317G>A (p.Cys106Tyr) c.1001G>A (p.Cys334Tyr) c.971G>A (p.Cys324Tyr) c.845G>A (p.Cys282Tyr) c.*303G>A (n.*303G>A) | |
16 | g.27362620G>C | CA395298231 | IL4R | c.1268G>C (p.Cys423Ser) c.1223G>C (p.Cys408Ser) c.230-1483G>C (n.230-1483G>C) c.*1311G>C (n.*1311G>C) c.788G>C (p.Cys263Ser) c.377G>C (p.Cys126Ser) c.317G>C (p.Cys106Ser) c.1001G>C (p.Cys334Ser) c.971G>C (p.Cys324Ser) c.845G>C (p.Cys282Ser) c.*303G>C (n.*303G>C) | |
16 | g.27362620G>T | CA395298233 | IL4R | c.1268G>T (p.Cys423Phe) c.1223G>T (p.Cys408Phe) c.230-1483G>T (n.230-1483G>T) c.*1311G>T (n.*1311G>T) c.788G>T (p.Cys263Phe) c.377G>T (p.Cys126Phe) c.317G>T (p.Cys106Phe) c.1001G>T (p.Cys334Phe) c.971G>T (p.Cys324Phe) c.845G>T (p.Cys282Phe) c.*303G>T (n.*303G>T) | |
16 | g.27362621C>A | CA395298237 | IL4R | c.1269C>A (p.Cys423Ter) c.1224C>A (p.Cys408Ter) c.230-1482C>A (n.230-1482C>A) c.*1312C>A (n.*1312C>A) c.789C>A (p.Cys263Ter) c.378C>A (p.Cys126Ter) c.318C>A (p.Cys106Ter) c.1002C>A (p.Cys334Ter) c.972C>A (p.Cys324Ter) c.846C>A (p.Cys282Ter) c.*304C>A (n.*304C>A) | |
16 | g.27362621C= | CA2215169541 | IL4R | c.1269C= (p.Cys423=) c.1224C= (p.Cys408=) c.230-1482C= (n.230-1482C=) c.*1312C= (n.*1312C=) c.789C= (p.Cys263=) c.378C= (p.Cys126=) c.318C= (p.Cys106=) c.1002C= (p.Cys334=) c.972C= (p.Cys324=) c.846C= (p.Cys282=) c.*304C= (n.*304C=) | |
16 | g.27362621C>G | CA395298239 | IL4R | c.1269C>G (p.Cys423Trp) c.1224C>G (p.Cys408Trp) c.230-1482C>G (n.230-1482C>G) c.*1312C>G (n.*1312C>G) c.789C>G (p.Cys263Trp) c.378C>G (p.Cys126Trp) c.318C>G (p.Cys106Trp) c.1002C>G (p.Cys334Trp) c.972C>G (p.Cys324Trp) c.846C>G (p.Cys282Trp) c.*304C>G (n.*304C>G) | |
16 | g.27362621C>T | CA494470467 | IL4R | c.1269C>T (p.Cys423=) c.1224C>T (p.Cys408=) c.230-1482C>T (n.230-1482C>T) c.*1312C>T (n.*1312C>T) c.789C>T (p.Cys263=) c.378C>T (p.Cys126=) c.318C>T (p.Cys106=) c.1002C>T (p.Cys334=) c.972C>T (p.Cys324=) c.846C>T (p.Cys282=) c.*304C>T (n.*304C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.27362622C>A | CA395298242 | IL4R | c.1270C>A (p.Gln424Lys) c.1225C>A (p.Gln409Lys) c.230-1481C>A (n.230-1481C>A) c.*1313C>A (n.*1313C>A) c.790C>A (p.Gln264Lys) c.379C>A (p.Gln127Lys) c.319C>A (p.Gln107Lys) c.1003C>A (p.Gln335Lys) c.973C>A (p.Gln325Lys) c.847C>A (p.Gln283Lys) c.*305C>A (n.*305C>A) | |
16 | g.27362622C>G | CA395298244 | IL4R | c.1270C>G (p.Gln424Glu) c.1225C>G (p.Gln409Glu) c.230-1481C>G (n.230-1481C>G) c.*1313C>G (n.*1313C>G) c.790C>G (p.Gln264Glu) c.379C>G (p.Gln127Glu) c.319C>G (p.Gln107Glu) c.1003C>G (p.Gln335Glu) c.973C>G (p.Gln325Glu) c.847C>G (p.Gln283Glu) c.*305C>G (n.*305C>G) | |
16 | g.27362622C>T | CA395298246 | IL4R | c.1270C>T (p.Gln424Ter) c.1225C>T (p.Gln409Ter) c.230-1481C>T (n.230-1481C>T) c.*1313C>T (n.*1313C>T) c.790C>T (p.Gln264Ter) c.379C>T (p.Gln127Ter) c.319C>T (p.Gln107Ter) c.1003C>T (p.Gln335Ter) c.973C>T (p.Gln325Ter) c.847C>T (p.Gln283Ter) c.*305C>T (n.*305C>T) | |
16 | g.27362623A>C | CA395298248 | IL4R | c.1271A>C (p.Gln424Pro) c.1226A>C (p.Gln409Pro) c.230-1480A>C (n.230-1480A>C) c.*1314A>C (n.*1314A>C) c.791A>C (p.Gln264Pro) c.380A>C (p.Gln127Pro) c.320A>C (p.Gln107Pro) c.1004A>C (p.Gln335Pro) c.974A>C (p.Gln325Pro) c.848A>C (p.Gln283Pro) c.*306A>C (n.*306A>C) | |
16 | g.27362623A>G | CA395298250 | IL4R | c.1271A>G (p.Gln424Arg) c.1226A>G (p.Gln409Arg) c.230-1480A>G (n.230-1480A>G) c.*1314A>G (n.*1314A>G) c.791A>G (p.Gln264Arg) c.380A>G (p.Gln127Arg) c.320A>G (p.Gln107Arg) c.1004A>G (p.Gln335Arg) c.974A>G (p.Gln325Arg) c.848A>G (p.Gln283Arg) c.*306A>G (n.*306A>G) | gnomAD v4 |
16 | g.27362623A>T | CA395298252 | IL4R | c.1271A>T (p.Gln424Leu) c.1226A>T (p.Gln409Leu) c.230-1480A>T (n.230-1480A>T) c.*1314A>T (n.*1314A>T) c.791A>T (p.Gln264Leu) c.380A>T (p.Gln127Leu) c.320A>T (p.Gln107Leu) c.1004A>T (p.Gln335Leu) c.974A>T (p.Gln325Leu) c.848A>T (p.Gln283Leu) c.*306A>T (n.*306A>T) | |
16 | g.27362624G>A | CA279686553 | IL4R | c.1272G>A (p.Gln424=) c.1227G>A (p.Gln409=) c.230-1479G>A (n.230-1479G>A) c.*1315G>A (n.*1315G>A) c.792G>A (p.Gln264=) c.381G>A (p.Gln127=) c.321G>A (p.Gln107=) c.1005G>A (p.Gln335=) c.975G>A (p.Gln325=) c.849G>A (p.Gln283=) c.*307G>A (n.*307G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362624G>C | CA395298257 | IL4R | c.1272G>C (p.Gln424His) c.1227G>C (p.Gln409His) c.230-1479G>C (n.230-1479G>C) c.*1315G>C (n.*1315G>C) c.792G>C (p.Gln264His) c.381G>C (p.Gln127His) c.321G>C (p.Gln107His) c.1005G>C (p.Gln335His) c.975G>C (p.Gln325His) c.849G>C (p.Gln283His) c.*307G>C (n.*307G>C) | |
16 | g.27362624G= | CA2215169543 | IL4R | c.1272G= (p.Gln424=) c.1227G= (p.Gln409=) c.230-1479G= (n.230-1479G=) c.*1315G= (n.*1315G=) c.792G= (p.Gln264=) c.381G= (p.Gln127=) c.321G= (p.Gln107=) c.1005G= (p.Gln335=) c.975G= (p.Gln325=) c.849G= (p.Gln283=) c.*307G= (n.*307G=) | |
16 | g.27362624G>T | CA395298255 | IL4R | c.1272G>T (p.Gln424His) c.1227G>T (p.Gln409His) c.230-1479G>T (n.230-1479G>T) c.*1315G>T (n.*1315G>T) c.792G>T (p.Gln264His) c.381G>T (p.Gln127His) c.321G>T (p.Gln107His) c.1005G>T (p.Gln335His) c.975G>T (p.Gln325His) c.849G>T (p.Gln283His) c.*307G>T (n.*307G>T) | |
16 | g.27362625C>A | CA395298260 | IL4R | c.1273C>A (p.Gln425Lys) c.1228C>A (p.Gln410Lys) c.230-1478C>A (n.230-1478C>A) c.*1316C>A (n.*1316C>A) c.793C>A (p.Gln265Lys) c.382C>A (p.Gln128Lys) c.322C>A (p.Gln108Lys) c.1006C>A (p.Gln336Lys) c.976C>A (p.Gln326Lys) c.850C>A (p.Gln284Lys) c.*308C>A (n.*308C>A) | |
16 | g.27362625C>G | CA395298262 | IL4R | c.1273C>G (p.Gln425Glu) c.1228C>G (p.Gln410Glu) c.230-1478C>G (n.230-1478C>G) c.*1316C>G (n.*1316C>G) c.793C>G (p.Gln265Glu) c.382C>G (p.Gln128Glu) c.322C>G (p.Gln108Glu) c.1006C>G (p.Gln336Glu) c.976C>G (p.Gln326Glu) c.850C>G (p.Gln284Glu) c.*308C>G (n.*308C>G) | |
16 | g.27362625C>T | CA395298264 | IL4R | c.1273C>T (p.Gln425Ter) c.1228C>T (p.Gln410Ter) c.230-1478C>T (n.230-1478C>T) c.*1316C>T (n.*1316C>T) c.793C>T (p.Gln265Ter) c.382C>T (p.Gln128Ter) c.322C>T (p.Gln108Ter) c.1006C>T (p.Gln336Ter) c.976C>T (p.Gln326Ter) c.850C>T (p.Gln284Ter) c.*308C>T (n.*308C>T) | |
16 | g.27362626A>C | CA395298267 | IL4R | c.1274A>C (p.Gln425Pro) c.1229A>C (p.Gln410Pro) c.230-1477A>C (n.230-1477A>C) c.*1317A>C (n.*1317A>C) c.794A>C (p.Gln265Pro) c.383A>C (p.Gln128Pro) c.323A>C (p.Gln108Pro) c.1007A>C (p.Gln336Pro) c.977A>C (p.Gln326Pro) c.851A>C (p.Gln284Pro) c.*309A>C (n.*309A>C) | |
16 | g.27362626A>G | CA395298269 | IL4R | c.1274A>G (p.Gln425Arg) c.1229A>G (p.Gln410Arg) c.230-1477A>G (n.230-1477A>G) c.*1317A>G (n.*1317A>G) c.794A>G (p.Gln265Arg) c.383A>G (p.Gln128Arg) c.323A>G (p.Gln108Arg) c.1007A>G (p.Gln336Arg) c.977A>G (p.Gln326Arg) c.851A>G (p.Gln284Arg) c.*309A>G (n.*309A>G) | gnomAD v4 |
16 | g.27362626A>T | CA395298271 | IL4R | c.1274A>T (p.Gln425Leu) c.1229A>T (p.Gln410Leu) c.230-1477A>T (n.230-1477A>T) c.*1317A>T (n.*1317A>T) c.794A>T (p.Gln265Leu) c.383A>T (p.Gln128Leu) c.323A>T (p.Gln108Leu) c.1007A>T (p.Gln336Leu) c.977A>T (p.Gln326Leu) c.851A>T (p.Gln284Leu) c.*309A>T (n.*309A>T) | |
16 | g.27362627G>A | CA494470485 | IL4R | c.1275G>A (p.Gln425=) c.1230G>A (p.Gln410=) c.230-1476G>A (n.230-1476G>A) c.*1318G>A (n.*1318G>A) c.795G>A (p.Gln265=) c.384G>A (p.Gln128=) c.324G>A (p.Gln108=) c.1008G>A (p.Gln336=) c.978G>A (p.Gln326=) c.852G>A (p.Gln284=) c.*310G>A (n.*310G>A) | |
16 | g.27362627G>C | CA395298274 | IL4R | c.1275G>C (p.Gln425His) c.1230G>C (p.Gln410His) c.230-1476G>C (n.230-1476G>C) c.*1318G>C (n.*1318G>C) c.795G>C (p.Gln265His) c.384G>C (p.Gln128His) c.324G>C (p.Gln108His) c.1008G>C (p.Gln336His) c.978G>C (p.Gln326His) c.852G>C (p.Gln284His) c.*310G>C (n.*310G>C) | |
16 | g.27362627G>T | CA395298275 | IL4R | c.1275G>T (p.Gln425His) c.1230G>T (p.Gln410His) c.230-1476G>T (n.230-1476G>T) c.*1318G>T (n.*1318G>T) c.795G>T (p.Gln265His) c.384G>T (p.Gln128His) c.324G>T (p.Gln108His) c.1008G>T (p.Gln336His) c.978G>T (p.Gln326His) c.852G>T (p.Gln284His) c.*310G>T (n.*310G>T) | |
16 | g.27362628G>A | CA395298278 | IL4R | c.1276G>A (p.Asp426Asn) c.1231G>A (p.Asp411Asn) c.230-1475G>A (n.230-1475G>A) c.*1319G>A (n.*1319G>A) c.796G>A (p.Asp266Asn) c.385G>A (p.Asp129Asn) c.325G>A (p.Asp109Asn) c.1009G>A (p.Asp337Asn) c.979G>A (p.Asp327Asn) c.853G>A (p.Asp285Asn) c.*311G>A (n.*311G>A) | gnomAD v4 |
16 | g.27362628G>C | CA395298280 | IL4R | c.1276G>C (p.Asp426His) c.1231G>C (p.Asp411His) c.230-1475G>C (n.230-1475G>C) c.*1319G>C (n.*1319G>C) c.796G>C (p.Asp266His) c.385G>C (p.Asp129His) c.325G>C (p.Asp109His) c.1009G>C (p.Asp337His) c.979G>C (p.Asp327His) c.853G>C (p.Asp285His) c.*311G>C (n.*311G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362628G= | CA2215169546 | IL4R | c.1276G= (p.Asp426=) c.1231G= (p.Asp411=) c.230-1475G= (n.230-1475G=) c.*1319G= (n.*1319G=) c.796G= (p.Asp266=) c.385G= (p.Asp129=) c.325G= (p.Asp109=) c.1009G= (p.Asp337=) c.979G= (p.Asp327=) c.853G= (p.Asp285=) c.*311G= (n.*311G=) | |
16 | g.27362628G>T | CA395298282 | IL4R | c.1276G>T (p.Asp426Tyr) c.1231G>T (p.Asp411Tyr) c.230-1475G>T (n.230-1475G>T) c.*1319G>T (n.*1319G>T) c.796G>T (p.Asp266Tyr) c.385G>T (p.Asp129Tyr) c.325G>T (p.Asp109Tyr) c.1009G>T (p.Asp337Tyr) c.979G>T (p.Asp327Tyr) c.853G>T (p.Asp285Tyr) c.*311G>T (n.*311G>T) | gnomAD v4 |
16 | g.27362629A= | CA2215169549 | IL4R | c.1277A= (p.Asp426=) c.1232A= (p.Asp411=) c.230-1474A= (n.230-1474A=) c.*1320A= (n.*1320A=) c.797A= (p.Asp266=) c.386A= (p.Asp129=) c.326A= (p.Asp109=) c.1010A= (p.Asp337=) c.980A= (p.Asp327=) c.854A= (p.Asp285=) c.*312A= (n.*312A=) | |
16 | g.27362629A>C | CA395298284 | IL4R | c.1277A>C (p.Asp426Ala) c.1232A>C (p.Asp411Ala) c.230-1474A>C (n.230-1474A>C) c.*1320A>C (n.*1320A>C) c.797A>C (p.Asp266Ala) c.386A>C (p.Asp129Ala) c.326A>C (p.Asp109Ala) c.1010A>C (p.Asp337Ala) c.980A>C (p.Asp327Ala) c.854A>C (p.Asp285Ala) c.*312A>C (n.*312A>C) | gnomAD v4 |
16 | g.27362629A>G | CA395298286 | IL4R | c.1277A>G (p.Asp426Gly) c.1232A>G (p.Asp411Gly) c.230-1474A>G (n.230-1474A>G) c.*1320A>G (n.*1320A>G) c.797A>G (p.Asp266Gly) c.386A>G (p.Asp129Gly) c.326A>G (p.Asp109Gly) c.1010A>G (p.Asp337Gly) c.980A>G (p.Asp327Gly) c.854A>G (p.Asp285Gly) c.*312A>G (n.*312A>G) | |
16 | g.27362629A>T | CA395298289 | IL4R | c.1277A>T (p.Asp426Val) c.1232A>T (p.Asp411Val) c.230-1474A>T (n.230-1474A>T) c.*1320A>T (n.*1320A>T) c.797A>T (p.Asp266Val) c.386A>T (p.Asp129Val) c.326A>T (p.Asp109Val) c.1010A>T (p.Asp337Val) c.980A>T (p.Asp327Val) c.854A>T (p.Asp285Val) c.*312A>T (n.*312A>T) | dbSNP gnomAD v2 |
16 | g.27362630C>A | CA395298292 | IL4R | c.1278C>A (p.Asp426Glu) c.1233C>A (p.Asp411Glu) c.230-1473C>A (n.230-1473C>A) c.*1321C>A (n.*1321C>A) c.798C>A (p.Asp266Glu) c.387C>A (p.Asp129Glu) c.327C>A (p.Asp109Glu) c.1011C>A (p.Asp337Glu) c.981C>A (p.Asp327Glu) c.855C>A (p.Asp285Glu) c.*313C>A (n.*313C>A) | |
16 | g.27362630C= | CA2215169557 | IL4R | c.1278C= (p.Asp426=) c.1233C= (p.Asp411=) c.230-1473C= (n.230-1473C=) c.*1321C= (n.*1321C=) c.798C= (p.Asp266=) c.387C= (p.Asp129=) c.327C= (p.Asp109=) c.1011C= (p.Asp337=) c.981C= (p.Asp327=) c.855C= (p.Asp285=) c.*313C= (n.*313C=) | |
16 | g.27362630C>G | CA395298293 | IL4R | c.1278C>G (p.Asp426Glu) c.1233C>G (p.Asp411Glu) c.230-1473C>G (n.230-1473C>G) c.*1321C>G (n.*1321C>G) c.798C>G (p.Asp266Glu) c.387C>G (p.Asp129Glu) c.327C>G (p.Asp109Glu) c.1011C>G (p.Asp337Glu) c.981C>G (p.Asp327Glu) c.855C>G (p.Asp285Glu) c.*313C>G (n.*313C>G) | |
16 | g.27362630C>T | CA494470489 | IL4R | c.1278C>T (p.Asp426=) c.1233C>T (p.Asp411=) c.230-1473C>T (n.230-1473C>T) c.*1321C>T (n.*1321C>T) c.798C>T (p.Asp266=) c.387C>T (p.Asp129=) c.327C>T (p.Asp109=) c.1011C>T (p.Asp337=) c.981C>T (p.Asp327=) c.855C>T (p.Asp285=) c.*313C>T (n.*313C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362631A= | CA2215169558 | IL4R | c.1279A= (p.Met427=) c.1234A= (p.Met412=) c.230-1472A= (n.230-1472A=) c.*1322A= (n.*1322A=) c.799A= (p.Met267=) c.388A= (p.Met130=) c.328A= (p.Met110=) c.1012A= (p.Met338=) c.982A= (p.Met328=) c.856A= (p.Met286=) c.*314A= (n.*314A=) | |
16 | g.27362631A>C | CA395298295 | IL4R | c.1279A>C (p.Met427Leu) c.1234A>C (p.Met412Leu) c.230-1472A>C (n.230-1472A>C) c.*1322A>C (n.*1322A>C) c.799A>C (p.Met267Leu) c.388A>C (p.Met130Leu) c.328A>C (p.Met110Leu) c.1012A>C (p.Met338Leu) c.982A>C (p.Met328Leu) c.856A>C (p.Met286Leu) c.*314A>C (n.*314A>C) | |
16 | g.27362631A>G | CA395298296 | IL4R | c.1279A>G (p.Met427Val) c.1234A>G (p.Met412Val) c.230-1472A>G (n.230-1472A>G) c.*1322A>G (n.*1322A>G) c.799A>G (p.Met267Val) c.388A>G (p.Met130Val) c.328A>G (p.Met110Val) c.1012A>G (p.Met338Val) c.982A>G (p.Met328Val) c.856A>G (p.Met286Val) c.*314A>G (n.*314A>G) | dbSNP gnomAD v4 |
16 | g.27362631A>T | CA395298299 | IL4R | c.1279A>T (p.Met427Leu) c.1234A>T (p.Met412Leu) c.230-1472A>T (n.230-1472A>T) c.*1322A>T (n.*1322A>T) c.799A>T (p.Met267Leu) c.388A>T (p.Met130Leu) c.328A>T (p.Met110Leu) c.1012A>T (p.Met338Leu) c.982A>T (p.Met328Leu) c.856A>T (p.Met286Leu) c.*314A>T (n.*314A>T) | |
16 | g.27362632T>A | CA395298301 | IL4R | c.1280T>A (p.Met427Lys) c.1235T>A (p.Met412Lys) c.230-1471T>A (n.230-1471T>A) c.*1323T>A (n.*1323T>A) c.800T>A (p.Met267Lys) c.389T>A (p.Met130Lys) c.329T>A (p.Met110Lys) c.1013T>A (p.Met338Lys) c.983T>A (p.Met328Lys) c.857T>A (p.Met286Lys) c.*315T>A (n.*315T>A) | |
16 | g.27362632T>C | CA395298303 | IL4R | c.1280T>C (p.Met427Thr) c.1235T>C (p.Met412Thr) c.230-1471T>C (n.230-1471T>C) c.*1323T>C (n.*1323T>C) c.800T>C (p.Met267Thr) c.389T>C (p.Met130Thr) c.329T>C (p.Met110Thr) c.1013T>C (p.Met338Thr) c.983T>C (p.Met328Thr) c.857T>C (p.Met286Thr) c.*315T>C (n.*315T>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362632T>G | CA395298306 | IL4R | c.1280T>G (p.Met427Arg) c.1235T>G (p.Met412Arg) c.230-1471T>G (n.230-1471T>G) c.*1323T>G (n.*1323T>G) c.800T>G (p.Met267Arg) c.389T>G (p.Met130Arg) c.329T>G (p.Met110Arg) c.1013T>G (p.Met338Arg) c.983T>G (p.Met328Arg) c.857T>G (p.Met286Arg) c.*315T>G (n.*315T>G) | |
16 | g.27362632T= | CA2215169559 | IL4R | c.1280T= (p.Met427=) c.1235T= (p.Met412=) c.230-1471T= (n.230-1471T=) c.*1323T= (n.*1323T=) c.800T= (p.Met267=) c.389T= (p.Met130=) c.329T= (p.Met110=) c.1013T= (p.Met338=) c.983T= (p.Met328=) c.857T= (p.Met286=) c.*315T= (n.*315T=) | |
16 | g.27362633G>A | CA395298309 | IL4R | c.1281G>A (p.Met427Ile) c.1236G>A (p.Met412Ile) c.230-1470G>A (n.230-1470G>A) c.*1324G>A (n.*1324G>A) c.801G>A (p.Met267Ile) c.390G>A (p.Met130Ile) c.330G>A (p.Met110Ile) c.1014G>A (p.Met338Ile) c.984G>A (p.Met328Ile) c.858G>A (p.Met286Ile) c.*316G>A (n.*316G>A) | |
16 | g.27362633G>C | CA395298311 | IL4R | c.1281G>C (p.Met427Ile) c.1236G>C (p.Met412Ile) c.230-1470G>C (n.230-1470G>C) c.*1324G>C (n.*1324G>C) c.801G>C (p.Met267Ile) c.390G>C (p.Met130Ile) c.330G>C (p.Met110Ile) c.1014G>C (p.Met338Ile) c.984G>C (p.Met328Ile) c.858G>C (p.Met286Ile) c.*316G>C (n.*316G>C) | |
16 | g.27362633G= | CA2215169561 | IL4R | c.1281G= (p.Met427=) c.1236G= (p.Met412=) c.230-1470G= (n.230-1470G=) c.*1324G= (n.*1324G=) c.801G= (p.Met267=) c.390G= (p.Met130=) c.330G= (p.Met110=) c.1014G= (p.Met338=) c.984G= (p.Met328=) c.858G= (p.Met286=) c.*316G= (n.*316G=) | |
16 | g.27362633G>T | CA395298313 | IL4R | c.1281G>T (p.Met427Ile) c.1236G>T (p.Met412Ile) c.230-1470G>T (n.230-1470G>T) c.*1324G>T (n.*1324G>T) c.801G>T (p.Met267Ile) c.390G>T (p.Met130Ile) c.330G>T (p.Met110Ile) c.1014G>T (p.Met338Ile) c.984G>T (p.Met328Ile) c.858G>T (p.Met286Ile) c.*316G>T (n.*316G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362634G>A | CA395298317 | IL4R | c.1282G>A (p.Gly428Arg) c.1237G>A (p.Gly413Arg) c.230-1469G>A (n.230-1469G>A) c.*1325G>A (n.*1325G>A) c.802G>A (p.Gly268Arg) c.391G>A (p.Gly131Arg) c.331G>A (p.Gly111Arg) c.1015G>A (p.Gly339Arg) c.985G>A (p.Gly329Arg) c.859G>A (p.Gly287Arg) c.*317G>A (n.*317G>A) | |
16 | g.27362634G>C | CA395298319 | IL4R | c.1282G>C (p.Gly428Arg) c.1237G>C (p.Gly413Arg) c.230-1469G>C (n.230-1469G>C) c.*1325G>C (n.*1325G>C) c.802G>C (p.Gly268Arg) c.391G>C (p.Gly131Arg) c.331G>C (p.Gly111Arg) c.1015G>C (p.Gly339Arg) c.985G>C (p.Gly329Arg) c.859G>C (p.Gly287Arg) c.*317G>C (n.*317G>C) | |
16 | g.27362634G>T | CA395298321 | IL4R | c.1282G>T (p.Gly428Trp) c.1237G>T (p.Gly413Trp) c.230-1469G>T (n.230-1469G>T) c.*1325G>T (n.*1325G>T) c.802G>T (p.Gly268Trp) c.391G>T (p.Gly131Trp) c.331G>T (p.Gly111Trp) c.1015G>T (p.Gly339Trp) c.985G>T (p.Gly329Trp) c.859G>T (p.Gly287Trp) c.*317G>T (n.*317G>T) | |
16 | g.27362635G>A | CA395298328 | IL4R | c.1283G>A (p.Gly428Glu) c.1238G>A (p.Gly413Glu) c.230-1468G>A (n.230-1468G>A) c.*1326G>A (n.*1326G>A) c.803G>A (p.Gly268Glu) c.392G>A (p.Gly131Glu) c.332G>A (p.Gly111Glu) c.1016G>A (p.Gly339Glu) c.986G>A (p.Gly329Glu) c.860G>A (p.Gly287Glu) c.*318G>A (n.*318G>A) | dbSNP gnomAD v2 |
16 | g.27362635G>C | CA395298327 | IL4R | c.1283G>C (p.Gly428Ala) c.1238G>C (p.Gly413Ala) c.230-1468G>C (n.230-1468G>C) c.*1326G>C (n.*1326G>C) c.803G>C (p.Gly268Ala) c.392G>C (p.Gly131Ala) c.332G>C (p.Gly111Ala) c.1016G>C (p.Gly339Ala) c.986G>C (p.Gly329Ala) c.860G>C (p.Gly287Ala) c.*318G>C (n.*318G>C) | |
16 | g.27362635G= | CA2215169563 | IL4R | c.1283G= (p.Gly428=) c.1238G= (p.Gly413=) c.230-1468G= (n.230-1468G=) c.*1326G= (n.*1326G=) c.803G= (p.Gly268=) c.392G= (p.Gly131=) c.332G= (p.Gly111=) c.1016G= (p.Gly339=) c.986G= (p.Gly329=) c.860G= (p.Gly287=) c.*318G= (n.*318G=) | |
16 | g.27362635G>T | CA395298325 | IL4R | c.1283G>T (p.Gly428Val) c.1238G>T (p.Gly413Val) c.230-1468G>T (n.230-1468G>T) c.*1326G>T (n.*1326G>T) c.803G>T (p.Gly268Val) c.392G>T (p.Gly131Val) c.332G>T (p.Gly111Val) c.1016G>T (p.Gly339Val) c.986G>T (p.Gly329Val) c.860G>T (p.Gly287Val) c.*318G>T (n.*318G>T) | |
16 | g.27362636G>A | CA494470504 | IL4R | c.1284G>A (p.Gly428=) c.1239G>A (p.Gly413=) c.230-1467G>A (n.230-1467G>A) c.*1327G>A (n.*1327G>A) c.804G>A (p.Gly268=) c.393G>A (p.Gly131=) c.333G>A (p.Gly111=) c.1017G>A (p.Gly339=) c.987G>A (p.Gly329=) c.861G>A (p.Gly287=) c.*319G>A (n.*319G>A) | gnomAD v4 |
16 | g.27362636G>C | CA494470505 | IL4R | c.1284G>C (p.Gly428=) c.1239G>C (p.Gly413=) c.230-1467G>C (n.230-1467G>C) c.*1327G>C (n.*1327G>C) c.804G>C (p.Gly268=) c.393G>C (p.Gly131=) c.333G>C (p.Gly111=) c.1017G>C (p.Gly339=) c.987G>C (p.Gly329=) c.861G>C (p.Gly287=) c.*319G>C (n.*319G>C) | |
16 | g.27362636G= | CA2215169564 | IL4R | c.1284G= (p.Gly428=) c.1239G= (p.Gly413=) c.230-1467G= (n.230-1467G=) c.*1327G= (n.*1327G=) c.804G= (p.Gly268=) c.393G= (p.Gly131=) c.333G= (p.Gly111=) c.1017G= (p.Gly339=) c.987G= (p.Gly329=) c.861G= (p.Gly287=) c.*319G= (n.*319G=) | |
16 | g.27362636G>T | CA7974528 | IL4R | c.1284G>T (p.Gly428=) c.1239G>T (p.Gly413=) c.230-1467G>T (n.230-1467G>T) c.*1327G>T (n.*1327G>T) c.804G>T (p.Gly268=) c.393G>T (p.Gly131=) c.333G>T (p.Gly111=) c.1017G>T (p.Gly339=) c.987G>T (p.Gly329=) c.861G>T (p.Gly287=) c.*319G>T (n.*319G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362637G>A | CA7974529 | IL4R | c.1285G>A (p.Glu429Lys) c.1240G>A (p.Glu414Lys) c.230-1466G>A (n.230-1466G>A) c.*1328G>A (n.*1328G>A) c.805G>A (p.Glu269Lys) c.394G>A (p.Glu132Lys) c.334G>A (p.Glu112Lys) c.1018G>A (p.Glu340Lys) c.988G>A (p.Glu330Lys) c.862G>A (p.Glu288Lys) c.*320G>A (n.*320G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362637G>C | CA395298333 | IL4R | c.1285G>C (p.Glu429Gln) c.1240G>C (p.Glu414Gln) c.230-1466G>C (n.230-1466G>C) c.*1328G>C (n.*1328G>C) c.805G>C (p.Glu269Gln) c.394G>C (p.Glu132Gln) c.334G>C (p.Glu112Gln) c.1018G>C (p.Glu340Gln) c.988G>C (p.Glu330Gln) c.862G>C (p.Glu288Gln) c.*320G>C (n.*320G>C) | |
16 | g.27362637G= | CA2215169565 | IL4R | c.1285G= (p.Glu429=) c.1240G= (p.Glu414=) c.230-1466G= (n.230-1466G=) c.*1328G= (n.*1328G=) c.805G= (p.Glu269=) c.394G= (p.Glu132=) c.334G= (p.Glu112=) c.1018G= (p.Glu340=) c.988G= (p.Glu330=) c.862G= (p.Glu288=) c.*320G= (n.*320G=) | |
16 | g.27362637G>T | CA395298336 | IL4R | c.1285G>T (p.Glu429Ter) c.1240G>T (p.Glu414Ter) c.230-1466G>T (n.230-1466G>T) c.*1328G>T (n.*1328G>T) c.805G>T (p.Glu269Ter) c.394G>T (p.Glu132Ter) c.334G>T (p.Glu112Ter) c.1018G>T (p.Glu340Ter) c.988G>T (p.Glu330Ter) c.862G>T (p.Glu288Ter) c.*320G>T (n.*320G>T) | |
16 | g.27362638A>C | CA395298338 | IL4R | c.1286A>C (p.Glu429Ala) c.1241A>C (p.Glu414Ala) c.230-1465A>C (n.230-1465A>C) c.*1329A>C (n.*1329A>C) c.806A>C (p.Glu269Ala) c.395A>C (p.Glu132Ala) c.335A>C (p.Glu112Ala) c.1019A>C (p.Glu340Ala) c.989A>C (p.Glu330Ala) c.863A>C (p.Glu288Ala) c.*321A>C (n.*321A>C) | |
16 | g.27362638A>G | CA395298340 | IL4R | c.1286A>G (p.Glu429Gly) c.1241A>G (p.Glu414Gly) c.230-1465A>G (n.230-1465A>G) c.*1329A>G (n.*1329A>G) c.806A>G (p.Glu269Gly) c.395A>G (p.Glu132Gly) c.335A>G (p.Glu112Gly) c.1019A>G (p.Glu340Gly) c.989A>G (p.Glu330Gly) c.863A>G (p.Glu288Gly) c.*321A>G (n.*321A>G) | |
16 | g.27362638A>T | CA395298342 | IL4R | c.1286A>T (p.Glu429Val) c.1241A>T (p.Glu414Val) c.230-1465A>T (n.230-1465A>T) c.*1329A>T (n.*1329A>T) c.806A>T (p.Glu269Val) c.395A>T (p.Glu132Val) c.335A>T (p.Glu112Val) c.1019A>T (p.Glu340Val) c.989A>T (p.Glu330Val) c.863A>T (p.Glu288Val) c.*321A>T (n.*321A>T) | |
16 | g.27362639G>A | CA494470509 | IL4R | c.1287G>A (p.Glu429=) c.1242G>A (p.Glu414=) c.230-1464G>A (n.230-1464G>A) c.*1330G>A (n.*1330G>A) c.807G>A (p.Glu269=) c.396G>A (p.Glu132=) c.336G>A (p.Glu112=) c.1020G>A (p.Glu340=) c.990G>A (p.Glu330=) c.864G>A (p.Glu288=) c.*322G>A (n.*322G>A) | |
16 | g.27362639G>C | CA395298344 | IL4R | c.1287G>C (p.Glu429Asp) c.1242G>C (p.Glu414Asp) c.230-1464G>C (n.230-1464G>C) c.*1330G>C (n.*1330G>C) c.807G>C (p.Glu269Asp) c.396G>C (p.Glu132Asp) c.336G>C (p.Glu112Asp) c.1020G>C (p.Glu340Asp) c.990G>C (p.Glu330Asp) c.864G>C (p.Glu288Asp) c.*322G>C (n.*322G>C) | gnomAD v4 |
16 | g.27362639G>T | CA395298346 | IL4R | c.1287G>T (p.Glu429Asp) c.1242G>T (p.Glu414Asp) c.230-1464G>T (n.230-1464G>T) c.*1330G>T (n.*1330G>T) c.807G>T (p.Glu269Asp) c.396G>T (p.Glu132Asp) c.336G>T (p.Glu112Asp) c.1020G>T (p.Glu340Asp) c.990G>T (p.Glu330Asp) c.864G>T (p.Glu288Asp) c.*322G>T (n.*322G>T) | |
16 | g.27362640T>A | CA395298349 | IL4R | c.1288T>A (p.Ser430Thr) c.1243T>A (p.Ser415Thr) c.230-1463T>A (n.230-1463T>A) c.*1331T>A (n.*1331T>A) c.808T>A (p.Ser270Thr) c.397T>A (p.Ser133Thr) c.337T>A (p.Ser113Thr) c.1021T>A (p.Ser341Thr) c.991T>A (p.Ser331Thr) c.865T>A (p.Ser289Thr) c.*323T>A (n.*323T>A) | |
16 | g.27362640T>C | CA395298351 | IL4R | c.1288T>C (p.Ser430Pro) c.1243T>C (p.Ser415Pro) c.230-1463T>C (n.230-1463T>C) c.*1331T>C (n.*1331T>C) c.808T>C (p.Ser270Pro) c.397T>C (p.Ser133Pro) c.337T>C (p.Ser113Pro) c.1021T>C (p.Ser341Pro) c.991T>C (p.Ser331Pro) c.865T>C (p.Ser289Pro) c.*323T>C (n.*323T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362640T>G | CA395298353 | IL4R | c.1288T>G (p.Ser430Ala) c.1243T>G (p.Ser415Ala) c.230-1463T>G (n.230-1463T>G) c.*1331T>G (n.*1331T>G) c.808T>G (p.Ser270Ala) c.397T>G (p.Ser133Ala) c.337T>G (p.Ser113Ala) c.1021T>G (p.Ser341Ala) c.991T>G (p.Ser331Ala) c.865T>G (p.Ser289Ala) c.*323T>G (n.*323T>G) | gnomAD v3 gnomAD v4 |
16 | g.27362640T= | CA2215169566 | IL4R | c.1288T= (p.Ser430=) c.1243T= (p.Ser415=) c.230-1463T= (n.230-1463T=) c.*1331T= (n.*1331T=) c.808T= (p.Ser270=) c.397T= (p.Ser133=) c.337T= (p.Ser113=) c.1021T= (p.Ser341=) c.991T= (p.Ser331=) c.865T= (p.Ser289=) c.*323T= (n.*323T=) | |
16 | g.27362641C>A | CA395298355 | IL4R | c.1289C>A (p.Ser430Ter) c.1244C>A (p.Ser415Ter) c.230-1462C>A (n.230-1462C>A) c.*1332C>A (n.*1332C>A) c.809C>A (p.Ser270Ter) c.398C>A (p.Ser133Ter) c.338C>A (p.Ser113Ter) c.1022C>A (p.Ser341Ter) c.992C>A (p.Ser331Ter) c.866C>A (p.Ser289Ter) c.*324C>A (n.*324C>A) | |
16 | g.27362641C>G | CA395298357 | IL4R | c.1289C>G (p.Ser430Ter) c.1244C>G (p.Ser415Ter) c.230-1462C>G (n.230-1462C>G) c.*1332C>G (n.*1332C>G) c.809C>G (p.Ser270Ter) c.398C>G (p.Ser133Ter) c.338C>G (p.Ser113Ter) c.1022C>G (p.Ser341Ter) c.992C>G (p.Ser331Ter) c.866C>G (p.Ser289Ter) c.*324C>G (n.*324C>G) | |
16 | g.27362641C>T | CA395298359 | IL4R | c.1289C>T (p.Ser430Leu) c.1244C>T (p.Ser415Leu) c.230-1462C>T (n.230-1462C>T) c.*1332C>T (n.*1332C>T) c.809C>T (p.Ser270Leu) c.398C>T (p.Ser133Leu) c.338C>T (p.Ser113Leu) c.1022C>T (p.Ser341Leu) c.992C>T (p.Ser331Leu) c.866C>T (p.Ser289Leu) c.*324C>T (n.*324C>T) | |
16 | g.27362642A>C | CA494470513 | IL4R | c.1290A>C (p.Ser430=) c.1245A>C (p.Ser415=) c.230-1461A>C (n.230-1461A>C) c.*1333A>C (n.*1333A>C) c.810A>C (p.Ser270=) c.399A>C (p.Ser133=) c.339A>C (p.Ser113=) c.1023A>C (p.Ser341=) c.993A>C (p.Ser331=) c.867A>C (p.Ser289=) c.*325A>C (n.*325A>C) | |
16 | g.27362642A>G | CA494470514 | IL4R | c.1290A>G (p.Ser430=) c.1245A>G (p.Ser415=) c.230-1461A>G (n.230-1461A>G) c.*1333A>G (n.*1333A>G) c.810A>G (p.Ser270=) c.399A>G (p.Ser133=) c.339A>G (p.Ser113=) c.1023A>G (p.Ser341=) c.993A>G (p.Ser331=) c.867A>G (p.Ser289=) c.*325A>G (n.*325A>G) | gnomAD v4 COSMIC |
16 | g.27362642A>T | CA494470515 | IL4R | c.1290A>T (p.Ser430=) c.1245A>T (p.Ser415=) c.230-1461A>T (n.230-1461A>T) c.*1333A>T (n.*1333A>T) c.810A>T (p.Ser270=) c.399A>T (p.Ser133=) c.339A>T (p.Ser113=) c.1023A>T (p.Ser341=) c.993A>T (p.Ser331=) c.867A>T (p.Ser289=) c.*325A>T (n.*325A>T) | |
16 | g.27362643T>A | CA395298365 | IL4R | c.1291T>A (p.Cys431Ser) c.1246T>A (p.Cys416Ser) c.230-1460T>A (n.230-1460T>A) c.*1334T>A (n.*1334T>A) c.811T>A (p.Cys271Ser) c.400T>A (p.Cys134Ser) c.340T>A (p.Cys114Ser) c.1024T>A (p.Cys342Ser) c.994T>A (p.Cys332Ser) c.868T>A (p.Cys290Ser) c.*326T>A (n.*326T>A) | |
16 | g.27362643T>C | CA7974530 | IL4R | c.1291T>C (p.Cys431Arg) c.1246T>C (p.Cys416Arg) c.230-1460T>C (n.230-1460T>C) c.*1334T>C (n.*1334T>C) c.811T>C (p.Cys271Arg) c.400T>C (p.Cys134Arg) c.340T>C (p.Cys114Arg) c.1024T>C (p.Cys342Arg) c.994T>C (p.Cys332Arg) c.868T>C (p.Cys290Arg) c.*326T>C (n.*326T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362643T>G | CA395298361 | IL4R | c.1291T>G (p.Cys431Gly) c.1246T>G (p.Cys416Gly) c.230-1460T>G (n.230-1460T>G) c.*1334T>G (n.*1334T>G) c.811T>G (p.Cys271Gly) c.400T>G (p.Cys134Gly) c.340T>G (p.Cys114Gly) c.1024T>G (p.Cys342Gly) c.994T>G (p.Cys332Gly) c.868T>G (p.Cys290Gly) c.*326T>G (n.*326T>G) | |
16 | g.27362643T= | CA2215169569 | IL4R | c.1291T= (p.Cys431=) c.1246T= (p.Cys416=) c.230-1460T= (n.230-1460T=) c.*1334T= (n.*1334T=) c.811T= (p.Cys271=) c.400T= (p.Cys134=) c.340T= (p.Cys114=) c.1024T= (p.Cys342=) c.994T= (p.Cys332=) c.868T= (p.Cys290=) c.*326T= (n.*326T=) | |
16 | g.27362644G>A | CA395298368 | IL4R | c.1292G>A (p.Cys431Tyr) c.1247G>A (p.Cys416Tyr) c.230-1459G>A (n.230-1459G>A) c.*1335G>A (n.*1335G>A) c.812G>A (p.Cys271Tyr) c.401G>A (p.Cys134Tyr) c.341G>A (p.Cys114Tyr) c.1025G>A (p.Cys342Tyr) c.995G>A (p.Cys332Tyr) c.869G>A (p.Cys290Tyr) c.*327G>A (n.*327G>A) | |
16 | g.27362644G>C | CA395298370 | IL4R | c.1292G>C (p.Cys431Ser) c.1247G>C (p.Cys416Ser) c.230-1459G>C (n.230-1459G>C) c.*1335G>C (n.*1335G>C) c.812G>C (p.Cys271Ser) c.401G>C (p.Cys134Ser) c.341G>C (p.Cys114Ser) c.1025G>C (p.Cys342Ser) c.995G>C (p.Cys332Ser) c.869G>C (p.Cys290Ser) c.*327G>C (n.*327G>C) | |
16 | g.27362644G>T | CA395298372 | IL4R | c.1292G>T (p.Cys431Phe) c.1247G>T (p.Cys416Phe) c.230-1459G>T (n.230-1459G>T) c.*1335G>T (n.*1335G>T) c.812G>T (p.Cys271Phe) c.401G>T (p.Cys134Phe) c.341G>T (p.Cys114Phe) c.1025G>T (p.Cys342Phe) c.995G>T (p.Cys332Phe) c.869G>T (p.Cys290Phe) c.*327G>T (n.*327G>T) | |
16 | g.27362645C>A | CA395298379 | IL4R | c.1293C>A (p.Cys431Ter) c.1248C>A (p.Cys416Ter) c.230-1458C>A (n.230-1458C>A) c.*1336C>A (n.*1336C>A) c.813C>A (p.Cys271Ter) c.402C>A (p.Cys134Ter) c.342C>A (p.Cys114Ter) c.1026C>A (p.Cys342Ter) c.996C>A (p.Cys332Ter) c.870C>A (p.Cys290Ter) c.*328C>A (n.*328C>A) | |
16 | g.27362645C= | CA2215169571 | IL4R | c.1293C= (p.Cys431=) c.1248C= (p.Cys416=) c.230-1458C= (n.230-1458C=) c.*1336C= (n.*1336C=) c.813C= (p.Cys271=) c.402C= (p.Cys134=) c.342C= (p.Cys114=) c.1026C= (p.Cys342=) c.996C= (p.Cys332=) c.870C= (p.Cys290=) c.*328C= (n.*328C=) | |
16 | g.27362645C>G | CA395298380 | IL4R | c.1293C>G (p.Cys431Trp) c.1248C>G (p.Cys416Trp) c.230-1458C>G (n.230-1458C>G) c.*1336C>G (n.*1336C>G) c.813C>G (p.Cys271Trp) c.402C>G (p.Cys134Trp) c.342C>G (p.Cys114Trp) c.1026C>G (p.Cys342Trp) c.996C>G (p.Cys332Trp) c.870C>G (p.Cys290Trp) c.*328C>G (n.*328C>G) | |
16 | g.27362645C>T | CA7974531 | IL4R | c.1293C>T (p.Cys431=) c.1248C>T (p.Cys416=) c.230-1458C>T (n.230-1458C>T) c.*1336C>T (n.*1336C>T) c.813C>T (p.Cys271=) c.402C>T (p.Cys134=) c.342C>T (p.Cys114=) c.1026C>T (p.Cys342=) c.996C>T (p.Cys332=) c.870C>T (p.Cys290=) c.*328C>T (n.*328C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362645_27362648delinsCCTT | CA2215169572 | IL4R | c.1293_1296delinsCCTT (p.Cys431=) c.1248_1251delinsCCTT (p.Cys416=) c.230-1458_230-1455delinsCCTT (n.230-1458_230-1455delinsCCTT) c.*1336_*1339delinsCCTT (n.*1336_*1339delinsCCTT) c.813_816delinsCCTT (p.Cys271=) c.402_405delinsCCTT (p.Cys134=) c.342_345delinsCCTT (p.Cys114=) c.1026_1029delinsCCTT (p.Cys342=) c.996_999delinsCCTT (p.Cys332=) c.870_873delinsCCTT (p.Cys290=) c.*328_*331delinsCCTT (n.*328_*331delinsCCTT) | |
16 | g.27362646C>A | CA395298386 | IL4R | c.1294C>A (p.Leu432Ile) c.1249C>A (p.Leu417Ile) c.230-1457C>A (n.230-1457C>A) c.*1337C>A (n.*1337C>A) c.814C>A (p.Leu272Ile) c.403C>A (p.Leu135Ile) c.343C>A (p.Leu115Ile) c.1027C>A (p.Leu343Ile) c.997C>A (p.Leu333Ile) c.871C>A (p.Leu291Ile) c.*329C>A (n.*329C>A) | |
16 | g.27362646C= | CA2215169573 | IL4R | c.1294C= (p.Leu432=) c.1249C= (p.Leu417=) c.230-1457C= (n.230-1457C=) c.*1337C= (n.*1337C=) c.814C= (p.Leu272=) c.403C= (p.Leu135=) c.343C= (p.Leu115=) c.1027C= (p.Leu343=) c.997C= (p.Leu333=) c.871C= (p.Leu291=) c.*329C= (n.*329C=) | |
16 | g.27362646C>G | CA395298388 | IL4R | c.1294C>G (p.Leu432Val) c.1249C>G (p.Leu417Val) c.230-1457C>G (n.230-1457C>G) c.*1337C>G (n.*1337C>G) c.814C>G (p.Leu272Val) c.403C>G (p.Leu135Val) c.343C>G (p.Leu115Val) c.1027C>G (p.Leu343Val) c.997C>G (p.Leu333Val) c.871C>G (p.Leu291Val) c.*329C>G (n.*329C>G) | |
16 | g.27362646C>T | CA7974532 | IL4R | c.1294C>T (p.Leu432Phe) c.1249C>T (p.Leu417Phe) c.230-1457C>T (n.230-1457C>T) c.*1337C>T (n.*1337C>T) c.814C>T (p.Leu272Phe) c.403C>T (p.Leu135Phe) c.343C>T (p.Leu115Phe) c.1027C>T (p.Leu343Phe) c.997C>T (p.Leu333Phe) c.871C>T (p.Leu291Phe) c.*329C>T (n.*329C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362650_27362652del | CA719576827 | IL4R | c.1298_1300del (p.Leu433del) c.1253_1255del (p.Leu418del) c.230-1453_230-1451del (n.230-1453_230-1451del) c.*1341_*1343del (n.*1341_*1343del) c.818_820del (p.Leu273del) c.407_409del (p.Leu136del) c.347_349del (p.Leu116del) c.1031_1033del (p.Leu344del) c.1001_1003del (p.Leu334del) c.875_877del (p.Leu292del) c.*333_*335del (n.*333_*335del) | dbSNP |
16 | g.27362647T>A | CA395298391 | IL4R | c.1295T>A (p.Leu432His) c.1250T>A (p.Leu417His) c.230-1456T>A (n.230-1456T>A) c.*1338T>A (n.*1338T>A) c.815T>A (p.Leu272His) c.404T>A (p.Leu135His) c.344T>A (p.Leu115His) c.1028T>A (p.Leu343His) c.998T>A (p.Leu333His) c.872T>A (p.Leu291His) c.*330T>A (n.*330T>A) | |
16 | g.27362647T>C | CA395298393 | IL4R | c.1295T>C (p.Leu432Pro) c.1250T>C (p.Leu417Pro) c.230-1456T>C (n.230-1456T>C) c.*1338T>C (n.*1338T>C) c.815T>C (p.Leu272Pro) c.404T>C (p.Leu135Pro) c.344T>C (p.Leu115Pro) c.1028T>C (p.Leu343Pro) c.998T>C (p.Leu333Pro) c.872T>C (p.Leu291Pro) c.*330T>C (n.*330T>C) | |
16 | g.27362647T>G | CA395298394 | IL4R | c.1295T>G (p.Leu432Arg) c.1250T>G (p.Leu417Arg) c.230-1456T>G (n.230-1456T>G) c.*1338T>G (n.*1338T>G) c.815T>G (p.Leu272Arg) c.404T>G (p.Leu135Arg) c.344T>G (p.Leu115Arg) c.1028T>G (p.Leu343Arg) c.998T>G (p.Leu333Arg) c.872T>G (p.Leu291Arg) c.*330T>G (n.*330T>G) | |
16 | g.27362648T>A | CA494470520 | IL4R | c.1296T>A (p.Leu432=) c.1251T>A (p.Leu417=) c.230-1455T>A (n.230-1455T>A) c.*1339T>A (n.*1339T>A) c.816T>A (p.Leu272=) c.405T>A (p.Leu135=) c.345T>A (p.Leu115=) c.1029T>A (p.Leu343=) c.999T>A (p.Leu333=) c.873T>A (p.Leu291=) c.*331T>A (n.*331T>A) | |
16 | g.27362648T>C | CA279686581 | IL4R | c.1296T>C (p.Leu432=) c.1251T>C (p.Leu417=) c.230-1455T>C (n.230-1455T>C) c.*1339T>C (n.*1339T>C) c.816T>C (p.Leu272=) c.405T>C (p.Leu135=) c.345T>C (p.Leu115=) c.1029T>C (p.Leu343=) c.999T>C (p.Leu333=) c.873T>C (p.Leu291=) c.*331T>C (n.*331T>C) | dbSNP |
16 | g.27362648T>G | CA494470519 | IL4R | c.1296T>G (p.Leu432=) c.1251T>G (p.Leu417=) c.230-1455T>G (n.230-1455T>G) c.*1339T>G (n.*1339T>G) c.816T>G (p.Leu272=) c.405T>G (p.Leu135=) c.345T>G (p.Leu115=) c.1029T>G (p.Leu343=) c.999T>G (p.Leu333=) c.873T>G (p.Leu291=) c.*331T>G (n.*331T>G) | |
16 | g.27362648T= | CA2215169578 | IL4R | c.1296T= (p.Leu432=) c.1251T= (p.Leu417=) c.230-1455T= (n.230-1455T=) c.*1339T= (n.*1339T=) c.816T= (p.Leu272=) c.405T= (p.Leu135=) c.345T= (p.Leu115=) c.1029T= (p.Leu343=) c.999T= (p.Leu333=) c.873T= (p.Leu291=) c.*331T= (n.*331T=) | |
16 | g.27362649C>A | CA395298402 | IL4R | c.1297C>A (p.Leu433Ile) c.1252C>A (p.Leu418Ile) c.230-1454C>A (n.230-1454C>A) c.*1340C>A (n.*1340C>A) c.817C>A (p.Leu273Ile) c.406C>A (p.Leu136Ile) c.346C>A (p.Leu116Ile) c.1030C>A (p.Leu344Ile) c.1000C>A (p.Leu334Ile) c.874C>A (p.Leu292Ile) c.*332C>A (n.*332C>A) | |
16 | g.27362649C>G | CA395298399 | IL4R | c.1297C>G (p.Leu433Val) c.1252C>G (p.Leu418Val) c.230-1454C>G (n.230-1454C>G) c.*1340C>G (n.*1340C>G) c.817C>G (p.Leu273Val) c.406C>G (p.Leu136Val) c.346C>G (p.Leu116Val) c.1030C>G (p.Leu344Val) c.1000C>G (p.Leu334Val) c.874C>G (p.Leu292Val) c.*332C>G (n.*332C>G) | |
16 | g.27362649C>T | CA395298397 | IL4R | c.1297C>T (p.Leu433Phe) c.1252C>T (p.Leu418Phe) c.230-1454C>T (n.230-1454C>T) c.*1340C>T (n.*1340C>T) c.817C>T (p.Leu273Phe) c.406C>T (p.Leu136Phe) c.346C>T (p.Leu116Phe) c.1030C>T (p.Leu344Phe) c.1000C>T (p.Leu334Phe) c.874C>T (p.Leu292Phe) c.*332C>T (n.*332C>T) | |
16 | g.27362650T>A | CA395298408 | IL4R | c.1298T>A (p.Leu433His) c.1253T>A (p.Leu418His) c.230-1453T>A (n.230-1453T>A) c.*1341T>A (n.*1341T>A) c.818T>A (p.Leu273His) c.407T>A (p.Leu136His) c.347T>A (p.Leu116His) c.1031T>A (p.Leu344His) c.1001T>A (p.Leu334His) c.875T>A (p.Leu292His) c.*333T>A (n.*333T>A) | |
16 | g.27362650T>C | CA279686587 | IL4R | c.1298T>C (p.Leu433Pro) c.1253T>C (p.Leu418Pro) c.230-1453T>C (n.230-1453T>C) c.*1341T>C (n.*1341T>C) c.818T>C (p.Leu273Pro) c.407T>C (p.Leu136Pro) c.347T>C (p.Leu116Pro) c.1031T>C (p.Leu344Pro) c.1001T>C (p.Leu334Pro) c.875T>C (p.Leu292Pro) c.*333T>C (n.*333T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362650T>G | CA395298407 | IL4R | c.1298T>G (p.Leu433Arg) c.1253T>G (p.Leu418Arg) c.230-1453T>G (n.230-1453T>G) c.*1341T>G (n.*1341T>G) c.818T>G (p.Leu273Arg) c.407T>G (p.Leu136Arg) c.347T>G (p.Leu116Arg) c.1031T>G (p.Leu344Arg) c.1001T>G (p.Leu334Arg) c.875T>G (p.Leu292Arg) c.*333T>G (n.*333T>G) | |
16 | g.27362650T= | CA2215169582 | IL4R | c.1298T= (p.Leu433=) c.1253T= (p.Leu418=) c.230-1453T= (n.230-1453T=) c.*1341T= (n.*1341T=) c.818T= (p.Leu273=) c.407T= (p.Leu136=) c.347T= (p.Leu116=) c.1031T= (p.Leu344=) c.1001T= (p.Leu334=) c.875T= (p.Leu292=) c.*333T= (n.*333T=) | |
16 | g.27362651T>A | CA494470521 | IL4R | c.1299T>A (p.Leu433=) c.1254T>A (p.Leu418=) c.230-1452T>A (n.230-1452T>A) c.*1342T>A (n.*1342T>A) c.819T>A (p.Leu273=) c.408T>A (p.Leu136=) c.348T>A (p.Leu116=) c.1032T>A (p.Leu344=) c.1002T>A (p.Leu334=) c.876T>A (p.Leu292=) c.*334T>A (n.*334T>A) | |
16 | g.27362651T>C | CA7974533 | IL4R | c.1299T>C (p.Leu433=) c.1254T>C (p.Leu418=) c.230-1452T>C (n.230-1452T>C) c.*1342T>C (n.*1342T>C) c.819T>C (p.Leu273=) c.408T>C (p.Leu136=) c.348T>C (p.Leu116=) c.1032T>C (p.Leu344=) c.1002T>C (p.Leu334=) c.876T>C (p.Leu292=) c.*334T>C (n.*334T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362651T>G | CA494470522 | IL4R | c.1299T>G (p.Leu433=) c.1254T>G (p.Leu418=) c.230-1452T>G (n.230-1452T>G) c.*1342T>G (n.*1342T>G) c.819T>G (p.Leu273=) c.408T>G (p.Leu136=) c.348T>G (p.Leu116=) c.1032T>G (p.Leu344=) c.1002T>G (p.Leu334=) c.876T>G (p.Leu292=) c.*334T>G (n.*334T>G) | |
16 | g.27362651T= | CA2215169588 | IL4R | c.1299T= (p.Leu433=) c.1254T= (p.Leu418=) c.230-1452T= (n.230-1452T=) c.*1342T= (n.*1342T=) c.819T= (p.Leu273=) c.408T= (p.Leu136=) c.348T= (p.Leu116=) c.1032T= (p.Leu344=) c.1002T= (p.Leu334=) c.876T= (p.Leu292=) c.*334T= (n.*334T=) | |
16 | g.27362652C>A | CA395298412 | IL4R | c.1300C>A (p.Pro434Thr) c.1255C>A (p.Pro419Thr) c.230-1451C>A (n.230-1451C>A) c.*1343C>A (n.*1343C>A) c.820C>A (p.Pro274Thr) c.409C>A (p.Pro137Thr) c.349C>A (p.Pro117Thr) c.1033C>A (p.Pro345Thr) c.1003C>A (p.Pro335Thr) c.877C>A (p.Pro293Thr) c.*335C>A (n.*335C>A) | |
16 | g.27362652C>G | CA395298414 | IL4R | c.1300C>G (p.Pro434Ala) c.1255C>G (p.Pro419Ala) c.230-1451C>G (n.230-1451C>G) c.*1343C>G (n.*1343C>G) c.820C>G (p.Pro274Ala) c.409C>G (p.Pro137Ala) c.349C>G (p.Pro117Ala) c.1033C>G (p.Pro345Ala) c.1003C>G (p.Pro335Ala) c.877C>G (p.Pro293Ala) c.*335C>G (n.*335C>G) | |
16 | g.27362652C>T | CA395298416 | IL4R | c.1300C>T (p.Pro434Ser) c.1255C>T (p.Pro419Ser) c.230-1451C>T (n.230-1451C>T) c.*1343C>T (n.*1343C>T) c.820C>T (p.Pro274Ser) c.409C>T (p.Pro137Ser) c.349C>T (p.Pro117Ser) c.1033C>T (p.Pro345Ser) c.1003C>T (p.Pro335Ser) c.877C>T (p.Pro293Ser) c.*335C>T (n.*335C>T) | gnomAD v4 |
16 | g.27362653C>A | CA395298417 | IL4R | c.1301C>A (p.Pro434Gln) c.1256C>A (p.Pro419Gln) c.230-1450C>A (n.230-1450C>A) c.*1344C>A (n.*1344C>A) c.821C>A (p.Pro274Gln) c.410C>A (p.Pro137Gln) c.350C>A (p.Pro117Gln) c.1034C>A (p.Pro345Gln) c.1004C>A (p.Pro335Gln) c.878C>A (p.Pro293Gln) c.*336C>A (n.*336C>A) | |
16 | g.27362653C>G | CA395298418 | IL4R | c.1301C>G (p.Pro434Arg) c.1256C>G (p.Pro419Arg) c.230-1450C>G (n.230-1450C>G) c.*1344C>G (n.*1344C>G) c.821C>G (p.Pro274Arg) c.410C>G (p.Pro137Arg) c.350C>G (p.Pro117Arg) c.1034C>G (p.Pro345Arg) c.1004C>G (p.Pro335Arg) c.878C>G (p.Pro293Arg) c.*336C>G (n.*336C>G) | |
16 | g.27362653C>T | CA395298419 | IL4R | c.1301C>T (p.Pro434Leu) c.1256C>T (p.Pro419Leu) c.230-1450C>T (n.230-1450C>T) c.*1344C>T (n.*1344C>T) c.821C>T (p.Pro274Leu) c.410C>T (p.Pro137Leu) c.350C>T (p.Pro117Leu) c.1034C>T (p.Pro345Leu) c.1004C>T (p.Pro335Leu) c.878C>T (p.Pro293Leu) c.*336C>T (n.*336C>T) | gnomAD v4 COSMIC |
16 | g.27362654A>C | CA494470523 | IL4R | c.1302A>C (p.Pro434=) c.1257A>C (p.Pro419=) c.230-1449A>C (n.230-1449A>C) c.*1345A>C (n.*1345A>C) c.822A>C (p.Pro274=) c.411A>C (p.Pro137=) c.351A>C (p.Pro117=) c.1035A>C (p.Pro345=) c.1005A>C (p.Pro335=) c.879A>C (p.Pro293=) c.*337A>C (n.*337A>C) | |
16 | g.27362654A>G | CA494470525 | IL4R | c.1302A>G (p.Pro434=) c.1257A>G (p.Pro419=) c.230-1449A>G (n.230-1449A>G) c.*1345A>G (n.*1345A>G) c.822A>G (p.Pro274=) c.411A>G (p.Pro137=) c.351A>G (p.Pro117=) c.1035A>G (p.Pro345=) c.1005A>G (p.Pro335=) c.879A>G (p.Pro293=) c.*337A>G (n.*337A>G) | gnomAD v4 |
16 | g.27362654A>T | CA494470524 | IL4R | c.1302A>T (p.Pro434=) c.1257A>T (p.Pro419=) c.230-1449A>T (n.230-1449A>T) c.*1345A>T (n.*1345A>T) c.822A>T (p.Pro274=) c.411A>T (p.Pro137=) c.351A>T (p.Pro117=) c.1035A>T (p.Pro345=) c.1005A>T (p.Pro335=) c.879A>T (p.Pro293=) c.*337A>T (n.*337A>T) | |
16 | g.27362654_27362655delinsAC | CA2215169591 | IL4R | c.1302_1303delinsAC (p.Pro434=) c.1257_1258delinsAC (p.Pro419=) c.230-1449_230-1448delinsAC (n.230-1449_230-1448delinsAC) c.*1345_*1346delinsAC (n.*1345_*1346delinsAC) c.822_823delinsAC (p.Pro274=) c.411_412delinsAC (p.Pro137=) c.351_352delinsAC (p.Pro117=) c.1035_1036delinsAC (p.Pro345=) c.1005_1006delinsAC (p.Pro335=) c.879_880delinsAC (p.Pro293=) c.*337_*338delinsAC (n.*337_*338delinsAC) | |
16 | g.27362655C>A | CA395298420 | IL4R | c.1303C>A (p.Pro435Thr) c.1258C>A (p.Pro420Thr) c.230-1448C>A (n.230-1448C>A) c.*1346C>A (n.*1346C>A) c.823C>A (p.Pro275Thr) c.412C>A (p.Pro138Thr) c.352C>A (p.Pro118Thr) c.1036C>A (p.Pro346Thr) c.1006C>A (p.Pro336Thr) c.880C>A (p.Pro294Thr) c.*338C>A (n.*338C>A) | |
16 | g.27362655C= | CA2215169597 | IL4R | c.1303C= (p.Pro435=) c.1258C= (p.Pro420=) c.230-1448C= (n.230-1448C=) c.*1346C= (n.*1346C=) c.823C= (p.Pro275=) c.412C= (p.Pro138=) c.352C= (p.Pro118=) c.1036C= (p.Pro346=) c.1006C= (p.Pro336=) c.880C= (p.Pro294=) c.*338C= (n.*338C=) | |
16 | g.27362655C>G | CA395298421 | IL4R | c.1303C>G (p.Pro435Ala) c.1258C>G (p.Pro420Ala) c.230-1448C>G (n.230-1448C>G) c.*1346C>G (n.*1346C>G) c.823C>G (p.Pro275Ala) c.412C>G (p.Pro138Ala) c.352C>G (p.Pro118Ala) c.1036C>G (p.Pro346Ala) c.1006C>G (p.Pro336Ala) c.880C>G (p.Pro294Ala) c.*338C>G (n.*338C>G) | |
16 | g.27362655C>T | CA7974534 | IL4R | c.1303C>T (p.Pro435Ser) c.1258C>T (p.Pro420Ser) c.230-1448C>T (n.230-1448C>T) c.*1346C>T (n.*1346C>T) c.823C>T (p.Pro275Ser) c.412C>T (p.Pro138Ser) c.352C>T (p.Pro118Ser) c.1036C>T (p.Pro346Ser) c.1006C>T (p.Pro336Ser) c.880C>T (p.Pro294Ser) c.*338C>T (n.*338C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362656del | CA494470526 | IL4R | c.1304del (p.Pro435LeufsTer?) c.1259del (p.Pro420LeufsTer?) c.230-1447del (n.230-1447del) c.*1347del (n.*1347del) c.824del (p.Pro275LeufsTer?) c.413del (p.Pro138LeufsTer?) c.353del (p.Pro118LeufsTer?) c.1037del (p.Pro346LeufsTer?) c.1007del (p.Pro336LeufsTer?) c.881del (p.Pro294LeufsTer?) c.*339del (n.*339del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362656C>A | CA395298424 | IL4R | c.1304C>A (p.Pro435His) c.1259C>A (p.Pro420His) c.230-1447C>A (n.230-1447C>A) c.*1347C>A (n.*1347C>A) c.824C>A (p.Pro275His) c.413C>A (p.Pro138His) c.353C>A (p.Pro118His) c.1037C>A (p.Pro346His) c.1007C>A (p.Pro336His) c.881C>A (p.Pro294His) c.*339C>A (n.*339C>A) | |
16 | g.27362656C= | CA2215169598 | IL4R | c.1304C= (p.Pro435=) c.1259C= (p.Pro420=) c.230-1447C= (n.230-1447C=) c.*1347C= (n.*1347C=) c.824C= (p.Pro275=) c.413C= (p.Pro138=) c.353C= (p.Pro118=) c.1037C= (p.Pro346=) c.1007C= (p.Pro336=) c.881C= (p.Pro294=) c.*339C= (n.*339C=) | |
16 | g.27362656C>G | CA395298423 | IL4R | c.1304C>G (p.Pro435Arg) c.1259C>G (p.Pro420Arg) c.230-1447C>G (n.230-1447C>G) c.*1347C>G (n.*1347C>G) c.824C>G (p.Pro275Arg) c.413C>G (p.Pro138Arg) c.353C>G (p.Pro118Arg) c.1037C>G (p.Pro346Arg) c.1007C>G (p.Pro336Arg) c.881C>G (p.Pro294Arg) c.*339C>G (n.*339C>G) | COSMIC |
16 | g.27362656C>T | CA395298422 | IL4R | c.1304C>T (p.Pro435Leu) c.1259C>T (p.Pro420Leu) c.230-1447C>T (n.230-1447C>T) c.*1347C>T (n.*1347C>T) c.824C>T (p.Pro275Leu) c.413C>T (p.Pro138Leu) c.353C>T (p.Pro118Leu) c.1037C>T (p.Pro346Leu) c.1007C>T (p.Pro336Leu) c.881C>T (p.Pro294Leu) c.*339C>T (n.*339C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362657T>A | CA494470527 | IL4R | c.1305T>A (p.Pro435=) c.1260T>A (p.Pro420=) c.230-1446T>A (n.230-1446T>A) c.*1348T>A (n.*1348T>A) c.825T>A (p.Pro275=) c.414T>A (p.Pro138=) c.354T>A (p.Pro118=) c.1038T>A (p.Pro346=) c.1008T>A (p.Pro336=) c.882T>A (p.Pro294=) c.*340T>A (n.*340T>A) | |
16 | g.27362657T>C | CA494470528 | IL4R | c.1305T>C (p.Pro435=) c.1260T>C (p.Pro420=) c.230-1446T>C (n.230-1446T>C) c.*1348T>C (n.*1348T>C) c.825T>C (p.Pro275=) c.414T>C (p.Pro138=) c.354T>C (p.Pro118=) c.1038T>C (p.Pro346=) c.1008T>C (p.Pro336=) c.882T>C (p.Pro294=) c.*340T>C (n.*340T>C) | |
16 | g.27362657T>G | CA494470529 | IL4R | c.1305T>G (p.Pro435=) c.1260T>G (p.Pro420=) c.230-1446T>G (n.230-1446T>G) c.*1348T>G (n.*1348T>G) c.825T>G (p.Pro275=) c.414T>G (p.Pro138=) c.354T>G (p.Pro118=) c.1038T>G (p.Pro346=) c.1008T>G (p.Pro336=) c.882T>G (p.Pro294=) c.*340T>G (n.*340T>G) | |
16 | g.27362658T>A | CA395298426 | IL4R | c.1306T>A (p.Ser436Thr) c.1261T>A (p.Ser421Thr) c.230-1445T>A (n.230-1445T>A) c.*1349T>A (n.*1349T>A) c.826T>A (p.Ser276Thr) c.415T>A (p.Ser139Thr) c.355T>A (p.Ser119Thr) c.1039T>A (p.Ser347Thr) c.1009T>A (p.Ser337Thr) c.883T>A (p.Ser295Thr) c.*341T>A (n.*341T>A) | |
16 | g.27362658T>C | CA395298427 | IL4R | c.1306T>C (p.Ser436Pro) c.1261T>C (p.Ser421Pro) c.230-1445T>C (n.230-1445T>C) c.*1349T>C (n.*1349T>C) c.826T>C (p.Ser276Pro) c.415T>C (p.Ser139Pro) c.355T>C (p.Ser119Pro) c.1039T>C (p.Ser347Pro) c.1009T>C (p.Ser337Pro) c.883T>C (p.Ser295Pro) c.*341T>C (n.*341T>C) | |
16 | g.27362658T>G | CA395298429 | IL4R | c.1306T>G (p.Ser436Ala) c.1261T>G (p.Ser421Ala) c.230-1445T>G (n.230-1445T>G) c.*1349T>G (n.*1349T>G) c.826T>G (p.Ser276Ala) c.415T>G (p.Ser139Ala) c.355T>G (p.Ser119Ala) c.1039T>G (p.Ser347Ala) c.1009T>G (p.Ser337Ala) c.883T>G (p.Ser295Ala) c.*341T>G (n.*341T>G) | |
16 | g.27362659C>A | CA395298432 | IL4R | c.1307C>A (p.Ser436Ter) c.1262C>A (p.Ser421Ter) c.230-1444C>A (n.230-1444C>A) c.*1350C>A (n.*1350C>A) c.827C>A (p.Ser276Ter) c.416C>A (p.Ser139Ter) c.356C>A (p.Ser119Ter) c.1040C>A (p.Ser347Ter) c.1010C>A (p.Ser337Ter) c.884C>A (p.Ser295Ter) c.*342C>A (n.*342C>A) | gnomAD v4 |
16 | g.27362659C= | CA2215169599 | IL4R | c.1307C= (p.Ser436=) c.1262C= (p.Ser421=) c.230-1444C= (n.230-1444C=) c.*1350C= (n.*1350C=) c.827C= (p.Ser276=) c.416C= (p.Ser139=) c.356C= (p.Ser119=) c.1040C= (p.Ser347=) c.1010C= (p.Ser337=) c.884C= (p.Ser295=) c.*342C= (n.*342C=) | |
16 | g.27362659C>G | CA395298433 | IL4R | c.1307C>G (p.Ser436Trp) c.1262C>G (p.Ser421Trp) c.230-1444C>G (n.230-1444C>G) c.*1350C>G (n.*1350C>G) c.827C>G (p.Ser276Trp) c.416C>G (p.Ser139Trp) c.356C>G (p.Ser119Trp) c.1040C>G (p.Ser347Trp) c.1010C>G (p.Ser337Trp) c.884C>G (p.Ser295Trp) c.*342C>G (n.*342C>G) | dbSNP |
16 | g.27362659C>T | CA7974535 | IL4R | c.1307C>T (p.Ser436Leu) c.1262C>T (p.Ser421Leu) c.230-1444C>T (n.230-1444C>T) c.*1350C>T (n.*1350C>T) c.827C>T (p.Ser276Leu) c.416C>T (p.Ser139Leu) c.356C>T (p.Ser119Leu) c.1040C>T (p.Ser347Leu) c.1010C>T (p.Ser337Leu) c.884C>T (p.Ser295Leu) c.*342C>T (n.*342C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362660G>A | CA7974536 | IL4R | c.1308G>A (p.Ser436=) c.1263G>A (p.Ser421=) c.230-1443G>A (n.230-1443G>A) c.*1351G>A (n.*1351G>A) c.828G>A (p.Ser276=) c.417G>A (p.Ser139=) c.357G>A (p.Ser119=) c.1041G>A (p.Ser347=) c.1011G>A (p.Ser337=) c.885G>A (p.Ser295=) c.*343G>A (n.*343G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362660G>C | CA494470530 | IL4R | c.1308G>C (p.Ser436=) c.1263G>C (p.Ser421=) c.230-1443G>C (n.230-1443G>C) c.*1351G>C (n.*1351G>C) c.828G>C (p.Ser276=) c.417G>C (p.Ser139=) c.357G>C (p.Ser119=) c.1041G>C (p.Ser347=) c.1011G>C (p.Ser337=) c.885G>C (p.Ser295=) c.*343G>C (n.*343G>C) | gnomAD v4 |
16 | g.27362660G= | CA2215169602 | IL4R | c.1308G= (p.Ser436=) c.1263G= (p.Ser421=) c.230-1443G= (n.230-1443G=) c.*1351G= (n.*1351G=) c.828G= (p.Ser276=) c.417G= (p.Ser139=) c.357G= (p.Ser119=) c.1041G= (p.Ser347=) c.1011G= (p.Ser337=) c.885G= (p.Ser295=) c.*343G= (n.*343G=) | |
16 | g.27362660G>T | CA494470531 | IL4R | c.1308G>T (p.Ser436=) c.1263G>T (p.Ser421=) c.230-1443G>T (n.230-1443G>T) c.*1351G>T (n.*1351G>T) c.828G>T (p.Ser276=) c.417G>T (p.Ser139=) c.357G>T (p.Ser119=) c.1041G>T (p.Ser347=) c.1011G>T (p.Ser337=) c.885G>T (p.Ser295=) c.*343G>T (n.*343G>T) | gnomAD v4 |
16 | g.27362661G>A | CA395298439 | IL4R | c.1309G>A (p.Gly437Arg) c.1264G>A (p.Gly422Arg) c.230-1442G>A (n.230-1442G>A) c.*1352G>A (n.*1352G>A) c.829G>A (p.Gly277Arg) c.418G>A (p.Gly140Arg) c.358G>A (p.Gly120Arg) c.1042G>A (p.Gly348Arg) c.1012G>A (p.Gly338Arg) c.886G>A (p.Gly296Arg) c.*344G>A (n.*344G>A) | |
16 | g.27362661G>C | CA395298441 | IL4R | c.1309G>C (p.Gly437Arg) c.1264G>C (p.Gly422Arg) c.230-1442G>C (n.230-1442G>C) c.*1352G>C (n.*1352G>C) c.829G>C (p.Gly277Arg) c.418G>C (p.Gly140Arg) c.358G>C (p.Gly120Arg) c.1042G>C (p.Gly348Arg) c.1012G>C (p.Gly338Arg) c.886G>C (p.Gly296Arg) c.*344G>C (n.*344G>C) | |
16 | g.27362661G>T | CA395298444 | IL4R | c.1309G>T (p.Gly437Ter) c.1264G>T (p.Gly422Ter) c.230-1442G>T (n.230-1442G>T) c.*1352G>T (n.*1352G>T) c.829G>T (p.Gly277Ter) c.418G>T (p.Gly140Ter) c.358G>T (p.Gly120Ter) c.1042G>T (p.Gly348Ter) c.1012G>T (p.Gly338Ter) c.886G>T (p.Gly296Ter) c.*344G>T (n.*344G>T) | |
16 | g.27362662G>A | CA395298446 | IL4R | c.1310G>A (p.Gly437Glu) c.1265G>A (p.Gly422Glu) c.230-1441G>A (n.230-1441G>A) c.*1353G>A (n.*1353G>A) c.830G>A (p.Gly277Glu) c.419G>A (p.Gly140Glu) c.359G>A (p.Gly120Glu) c.1043G>A (p.Gly348Glu) c.1013G>A (p.Gly338Glu) c.887G>A (p.Gly296Glu) c.*345G>A (n.*345G>A) | |
16 | g.27362662G>C | CA395298448 | IL4R | c.1310G>C (p.Gly437Ala) c.1265G>C (p.Gly422Ala) c.230-1441G>C (n.230-1441G>C) c.*1353G>C (n.*1353G>C) c.830G>C (p.Gly277Ala) c.419G>C (p.Gly140Ala) c.359G>C (p.Gly120Ala) c.1043G>C (p.Gly348Ala) c.1013G>C (p.Gly338Ala) c.887G>C (p.Gly296Ala) c.*345G>C (n.*345G>C) | |
16 | g.27362662G>T | CA395298450 | IL4R | c.1310G>T (p.Gly437Val) c.1265G>T (p.Gly422Val) c.230-1441G>T (n.230-1441G>T) c.*1353G>T (n.*1353G>T) c.830G>T (p.Gly277Val) c.419G>T (p.Gly140Val) c.359G>T (p.Gly120Val) c.1043G>T (p.Gly348Val) c.1013G>T (p.Gly338Val) c.887G>T (p.Gly296Val) c.*345G>T (n.*345G>T) | |
16 | g.27362663A= | CA2215169605 | IL4R | c.1311A= (p.Gly437=) c.1266A= (p.Gly422=) c.230-1440A= (n.230-1440A=) c.*1354A= (n.*1354A=) c.831A= (p.Gly277=) c.420A= (p.Gly140=) c.360A= (p.Gly120=) c.1044A= (p.Gly348=) c.1014A= (p.Gly338=) c.888A= (p.Gly296=) c.*346A= (n.*346A=) | |
16 | g.27362663A>C | CA494470534 | IL4R | c.1311A>C (p.Gly437=) c.1266A>C (p.Gly422=) c.230-1440A>C (n.230-1440A>C) c.*1354A>C (n.*1354A>C) c.831A>C (p.Gly277=) c.420A>C (p.Gly140=) c.360A>C (p.Gly120=) c.1044A>C (p.Gly348=) c.1014A>C (p.Gly338=) c.888A>C (p.Gly296=) c.*346A>C (n.*346A>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362663A>G | CA494470533 | IL4R | c.1311A>G (p.Gly437=) c.1266A>G (p.Gly422=) c.230-1440A>G (n.230-1440A>G) c.*1354A>G (n.*1354A>G) c.831A>G (p.Gly277=) c.420A>G (p.Gly140=) c.360A>G (p.Gly120=) c.1044A>G (p.Gly348=) c.1014A>G (p.Gly338=) c.888A>G (p.Gly296=) c.*346A>G (n.*346A>G) | |
16 | g.27362663A>T | CA494470532 | IL4R | c.1311A>T (p.Gly437=) c.1266A>T (p.Gly422=) c.230-1440A>T (n.230-1440A>T) c.*1354A>T (n.*1354A>T) c.831A>T (p.Gly277=) c.420A>T (p.Gly140=) c.360A>T (p.Gly120=) c.1044A>T (p.Gly348=) c.1014A>T (p.Gly338=) c.888A>T (p.Gly296=) c.*346A>T (n.*346A>T) | |
16 | g.27362664A= | CA2215169606 | IL4R | c.1312A= (p.Ser438=) c.1267A= (p.Ser423=) c.230-1439A= (n.230-1439A=) c.*1355A= (n.*1355A=) c.832A= (p.Ser278=) c.421A= (p.Ser141=) c.361A= (p.Ser121=) c.1045A= (p.Ser349=) c.1015A= (p.Ser339=) c.889A= (p.Ser297=) c.*347A= (n.*347A=) | |
16 | g.27362664A>C | CA7974537 | IL4R | c.1312A>C (p.Ser438Arg) c.1267A>C (p.Ser423Arg) c.230-1439A>C (n.230-1439A>C) c.*1355A>C (n.*1355A>C) c.832A>C (p.Ser278Arg) c.421A>C (p.Ser141Arg) c.361A>C (p.Ser121Arg) c.1045A>C (p.Ser349Arg) c.1015A>C (p.Ser339Arg) c.889A>C (p.Ser297Arg) c.*347A>C (n.*347A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362664A>G | CA395298459 | IL4R | c.1312A>G (p.Ser438Gly) c.1267A>G (p.Ser423Gly) c.230-1439A>G (n.230-1439A>G) c.*1355A>G (n.*1355A>G) c.832A>G (p.Ser278Gly) c.421A>G (p.Ser141Gly) c.361A>G (p.Ser121Gly) c.1045A>G (p.Ser349Gly) c.1015A>G (p.Ser339Gly) c.889A>G (p.Ser297Gly) c.*347A>G (n.*347A>G) | COSMIC |
16 | g.27362664A>T | CA395298454 | IL4R | c.1312A>T (p.Ser438Cys) c.1267A>T (p.Ser423Cys) c.230-1439A>T (n.230-1439A>T) c.*1355A>T (n.*1355A>T) c.832A>T (p.Ser278Cys) c.421A>T (p.Ser141Cys) c.361A>T (p.Ser121Cys) c.1045A>T (p.Ser349Cys) c.1015A>T (p.Ser339Cys) c.889A>T (p.Ser297Cys) c.*347A>T (n.*347A>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362665G>A | CA395298461 | IL4R | c.1313G>A (p.Ser438Asn) c.1268G>A (p.Ser423Asn) c.230-1438G>A (n.230-1438G>A) c.*1356G>A (n.*1356G>A) c.833G>A (p.Ser278Asn) c.422G>A (p.Ser141Asn) c.362G>A (p.Ser121Asn) c.1046G>A (p.Ser349Asn) c.1016G>A (p.Ser339Asn) c.890G>A (p.Ser297Asn) c.*348G>A (n.*348G>A) | dbSNP gnomAD v4 |
16 | g.27362665G>C | CA395298465 | IL4R | c.1313G>C (p.Ser438Thr) c.1268G>C (p.Ser423Thr) c.230-1438G>C (n.230-1438G>C) c.*1356G>C (n.*1356G>C) c.833G>C (p.Ser278Thr) c.422G>C (p.Ser141Thr) c.362G>C (p.Ser121Thr) c.1046G>C (p.Ser349Thr) c.1016G>C (p.Ser339Thr) c.890G>C (p.Ser297Thr) c.*348G>C (n.*348G>C) | |
16 | g.27362665G= | CA2215169608 | IL4R | c.1313G= (p.Ser438=) c.1268G= (p.Ser423=) c.230-1438G= (n.230-1438G=) c.*1356G= (n.*1356G=) c.833G= (p.Ser278=) c.422G= (p.Ser141=) c.362G= (p.Ser121=) c.1046G= (p.Ser349=) c.1016G= (p.Ser339=) c.890G= (p.Ser297=) c.*348G= (n.*348G=) | |
16 | g.27362665G>T | CA395298464 | IL4R | c.1313G>T (p.Ser438Ile) c.1268G>T (p.Ser423Ile) c.230-1438G>T (n.230-1438G>T) c.*1356G>T (n.*1356G>T) c.833G>T (p.Ser278Ile) c.422G>T (p.Ser141Ile) c.362G>T (p.Ser121Ile) c.1046G>T (p.Ser349Ile) c.1016G>T (p.Ser339Ile) c.890G>T (p.Ser297Ile) c.*348G>T (n.*348G>T) | COSMIC |
16 | g.27362666T>A | CA395298467 | IL4R | c.1314T>A (p.Ser438Arg) c.1269T>A (p.Ser423Arg) c.230-1437T>A (n.230-1437T>A) c.*1357T>A (n.*1357T>A) c.834T>A (p.Ser278Arg) c.423T>A (p.Ser141Arg) c.363T>A (p.Ser121Arg) c.1047T>A (p.Ser349Arg) c.1017T>A (p.Ser339Arg) c.891T>A (p.Ser297Arg) c.*349T>A (n.*349T>A) | |
16 | g.27362666T>C | CA494470535 | IL4R | c.1314T>C (p.Ser438=) c.1269T>C (p.Ser423=) c.230-1437T>C (n.230-1437T>C) c.*1357T>C (n.*1357T>C) c.834T>C (p.Ser278=) c.423T>C (p.Ser141=) c.363T>C (p.Ser121=) c.1047T>C (p.Ser349=) c.1017T>C (p.Ser339=) c.891T>C (p.Ser297=) c.*349T>C (n.*349T>C) | |
16 | g.27362666T>G | CA395298469 | IL4R | c.1314T>G (p.Ser438Arg) c.1269T>G (p.Ser423Arg) c.230-1437T>G (n.230-1437T>G) c.*1357T>G (n.*1357T>G) c.834T>G (p.Ser278Arg) c.423T>G (p.Ser141Arg) c.363T>G (p.Ser121Arg) c.1047T>G (p.Ser349Arg) c.1017T>G (p.Ser339Arg) c.891T>G (p.Ser297Arg) c.*349T>G (n.*349T>G) | |
16 | g.27362667A>C | CA395298472 | IL4R | c.1315A>C (p.Thr439Pro) c.1270A>C (p.Thr424Pro) c.230-1436A>C (n.230-1436A>C) c.*1358A>C (n.*1358A>C) c.835A>C (p.Thr279Pro) c.424A>C (p.Thr142Pro) c.364A>C (p.Thr122Pro) c.1048A>C (p.Thr350Pro) c.1018A>C (p.Thr340Pro) c.892A>C (p.Thr298Pro) c.*350A>C (n.*350A>C) | |
16 | g.27362667A>G | CA395298473 | IL4R | c.1315A>G (p.Thr439Ala) c.1270A>G (p.Thr424Ala) c.230-1436A>G (n.230-1436A>G) c.*1358A>G (n.*1358A>G) c.835A>G (p.Thr279Ala) c.424A>G (p.Thr142Ala) c.364A>G (p.Thr122Ala) c.1048A>G (p.Thr350Ala) c.1018A>G (p.Thr340Ala) c.892A>G (p.Thr298Ala) c.*350A>G (n.*350A>G) | |
16 | g.27362667A>T | CA395298474 | IL4R | c.1315A>T (p.Thr439Ser) c.1270A>T (p.Thr424Ser) c.230-1436A>T (n.230-1436A>T) c.*1358A>T (n.*1358A>T) c.835A>T (p.Thr279Ser) c.424A>T (p.Thr142Ser) c.364A>T (p.Thr122Ser) c.1048A>T (p.Thr350Ser) c.1018A>T (p.Thr340Ser) c.892A>T (p.Thr298Ser) c.*350A>T (n.*350A>T) | |
16 | g.27362668C>A | CA395298475 | IL4R | c.1316C>A (p.Thr439Lys) c.1271C>A (p.Thr424Lys) c.230-1435C>A (n.230-1435C>A) c.*1359C>A (n.*1359C>A) c.836C>A (p.Thr279Lys) c.425C>A (p.Thr142Lys) c.365C>A (p.Thr122Lys) c.1049C>A (p.Thr350Lys) c.1019C>A (p.Thr340Lys) c.893C>A (p.Thr298Lys) c.*351C>A (n.*351C>A) | dbSNP gnomAD v2 |
16 | g.27362668C= | CA2215169610 | IL4R | c.1316C= (p.Thr439=) c.1271C= (p.Thr424=) c.230-1435C= (n.230-1435C=) c.*1359C= (n.*1359C=) c.836C= (p.Thr279=) c.425C= (p.Thr142=) c.365C= (p.Thr122=) c.1049C= (p.Thr350=) c.1019C= (p.Thr340=) c.893C= (p.Thr298=) c.*351C= (n.*351C=) | |
16 | g.27362668C>G | CA395298476 | IL4R | c.1316C>G (p.Thr439Arg) c.1271C>G (p.Thr424Arg) c.230-1435C>G (n.230-1435C>G) c.*1359C>G (n.*1359C>G) c.836C>G (p.Thr279Arg) c.425C>G (p.Thr142Arg) c.365C>G (p.Thr122Arg) c.1049C>G (p.Thr350Arg) c.1019C>G (p.Thr340Arg) c.893C>G (p.Thr298Arg) c.*351C>G (n.*351C>G) | |
16 | g.27362668C>T | CA7974538 | IL4R | c.1316C>T (p.Thr439Met) c.1271C>T (p.Thr424Met) c.230-1435C>T (n.230-1435C>T) c.*1359C>T (n.*1359C>T) c.836C>T (p.Thr279Met) c.425C>T (p.Thr142Met) c.365C>T (p.Thr122Met) c.1049C>T (p.Thr350Met) c.1019C>T (p.Thr340Met) c.893C>T (p.Thr298Met) c.*351C>T (n.*351C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362669G>A | CA494470536 | IL4R | c.1317G>A (p.Thr439=) c.1272G>A (p.Thr424=) c.230-1434G>A (n.230-1434G>A) c.*1360G>A (n.*1360G>A) c.837G>A (p.Thr279=) c.426G>A (p.Thr142=) c.366G>A (p.Thr122=) c.1050G>A (p.Thr350=) c.1020G>A (p.Thr340=) c.894G>A (p.Thr298=) c.*352G>A (n.*352G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362669G>C | CA494470537 | IL4R | c.1317G>C (p.Thr439=) c.1272G>C (p.Thr424=) c.230-1434G>C (n.230-1434G>C) c.*1360G>C (n.*1360G>C) c.837G>C (p.Thr279=) c.426G>C (p.Thr142=) c.366G>C (p.Thr122=) c.1050G>C (p.Thr350=) c.1020G>C (p.Thr340=) c.894G>C (p.Thr298=) c.*352G>C (n.*352G>C) | |
16 | g.27362669G= | CA2215169616 | IL4R | c.1317G= (p.Thr439=) c.1272G= (p.Thr424=) c.230-1434G= (n.230-1434G=) c.*1360G= (n.*1360G=) c.837G= (p.Thr279=) c.426G= (p.Thr142=) c.366G= (p.Thr122=) c.1050G= (p.Thr350=) c.1020G= (p.Thr340=) c.894G= (p.Thr298=) c.*352G= (n.*352G=) | |
16 | g.27362669G>T | CA494470538 | IL4R | c.1317G>T (p.Thr439=) c.1272G>T (p.Thr424=) c.230-1434G>T (n.230-1434G>T) c.*1360G>T (n.*1360G>T) c.837G>T (p.Thr279=) c.426G>T (p.Thr142=) c.366G>T (p.Thr122=) c.1050G>T (p.Thr350=) c.1020G>T (p.Thr340=) c.894G>T (p.Thr298=) c.*352G>T (n.*352G>T) | |
16 | g.27362670A>C | CA395298480 | IL4R | c.1318A>C (p.Ser440Arg) c.1273A>C (p.Ser425Arg) c.230-1433A>C (n.230-1433A>C) c.*1361A>C (n.*1361A>C) c.838A>C (p.Ser280Arg) c.427A>C (p.Ser143Arg) c.367A>C (p.Ser123Arg) c.1051A>C (p.Ser351Arg) c.1021A>C (p.Ser341Arg) c.895A>C (p.Ser299Arg) c.*353A>C (n.*353A>C) | |
16 | g.27362670A>G | CA395298483 | IL4R | c.1318A>G (p.Ser440Gly) c.1273A>G (p.Ser425Gly) c.230-1433A>G (n.230-1433A>G) c.*1361A>G (n.*1361A>G) c.838A>G (p.Ser280Gly) c.427A>G (p.Ser143Gly) c.367A>G (p.Ser123Gly) c.1051A>G (p.Ser351Gly) c.1021A>G (p.Ser341Gly) c.895A>G (p.Ser299Gly) c.*353A>G (n.*353A>G) | |
16 | g.27362670A>T | CA395298485 | IL4R | c.1318A>T (p.Ser440Cys) c.1273A>T (p.Ser425Cys) c.230-1433A>T (n.230-1433A>T) c.*1361A>T (n.*1361A>T) c.838A>T (p.Ser280Cys) c.427A>T (p.Ser143Cys) c.367A>T (p.Ser123Cys) c.1051A>T (p.Ser351Cys) c.1021A>T (p.Ser341Cys) c.895A>T (p.Ser299Cys) c.*353A>T (n.*353A>T) | |
16 | g.27362671G>A | CA395298493 | IL4R | c.1319G>A (p.Ser440Asn) c.1274G>A (p.Ser425Asn) c.230-1432G>A (n.230-1432G>A) c.*1362G>A (n.*1362G>A) c.839G>A (p.Ser280Asn) c.428G>A (p.Ser143Asn) c.368G>A (p.Ser123Asn) c.1052G>A (p.Ser351Asn) c.1022G>A (p.Ser341Asn) c.896G>A (p.Ser299Asn) c.*354G>A (n.*354G>A) | |
16 | g.27362671G>C | CA395298491 | IL4R | c.1319G>C (p.Ser440Thr) c.1274G>C (p.Ser425Thr) c.230-1432G>C (n.230-1432G>C) c.*1362G>C (n.*1362G>C) c.839G>C (p.Ser280Thr) c.428G>C (p.Ser143Thr) c.368G>C (p.Ser123Thr) c.1052G>C (p.Ser351Thr) c.1022G>C (p.Ser341Thr) c.896G>C (p.Ser299Thr) c.*354G>C (n.*354G>C) | |
16 | g.27362671G>T | CA395298489 | IL4R | c.1319G>T (p.Ser440Ile) c.1274G>T (p.Ser425Ile) c.230-1432G>T (n.230-1432G>T) c.*1362G>T (n.*1362G>T) c.839G>T (p.Ser280Ile) c.428G>T (p.Ser143Ile) c.368G>T (p.Ser123Ile) c.1052G>T (p.Ser351Ile) c.1022G>T (p.Ser341Ile) c.896G>T (p.Ser299Ile) c.*354G>T (n.*354G>T) | |
16 | g.27362672T>A | CA395298496 | IL4R | c.1320T>A (p.Ser440Arg) c.1275T>A (p.Ser425Arg) c.230-1431T>A (n.230-1431T>A) c.*1363T>A (n.*1363T>A) c.840T>A (p.Ser280Arg) c.429T>A (p.Ser143Arg) c.369T>A (p.Ser123Arg) c.1053T>A (p.Ser351Arg) c.1023T>A (p.Ser341Arg) c.897T>A (p.Ser299Arg) c.*355T>A (n.*355T>A) | |
16 | g.27362672T>C | CA494470539 | IL4R | c.1320T>C (p.Ser440=) c.1275T>C (p.Ser425=) c.230-1431T>C (n.230-1431T>C) c.*1363T>C (n.*1363T>C) c.840T>C (p.Ser280=) c.429T>C (p.Ser143=) c.369T>C (p.Ser123=) c.1053T>C (p.Ser351=) c.1023T>C (p.Ser341=) c.897T>C (p.Ser299=) c.*355T>C (n.*355T>C) | |
16 | g.27362672T>G | CA395298499 | IL4R | c.1320T>G (p.Ser440Arg) c.1275T>G (p.Ser425Arg) c.230-1431T>G (n.230-1431T>G) c.*1363T>G (n.*1363T>G) c.840T>G (p.Ser280Arg) c.429T>G (p.Ser143Arg) c.369T>G (p.Ser123Arg) c.1053T>G (p.Ser351Arg) c.1023T>G (p.Ser341Arg) c.897T>G (p.Ser299Arg) c.*355T>G (n.*355T>G) | |
16 | g.27362673G>A | CA395298501 | IL4R | c.1321G>A (p.Ala441Thr) c.1276G>A (p.Ala426Thr) c.230-1430G>A (n.230-1430G>A) c.*1364G>A (n.*1364G>A) c.841G>A (p.Ala281Thr) c.430G>A (p.Ala144Thr) c.370G>A (p.Ala124Thr) c.1054G>A (p.Ala352Thr) c.1024G>A (p.Ala342Thr) c.898G>A (p.Ala300Thr) c.*356G>A (n.*356G>A) | dbSNP gnomAD v4 |
16 | g.27362673G>C | CA395298503 | IL4R | c.1321G>C (p.Ala441Pro) c.1276G>C (p.Ala426Pro) c.230-1430G>C (n.230-1430G>C) c.*1364G>C (n.*1364G>C) c.841G>C (p.Ala281Pro) c.430G>C (p.Ala144Pro) c.370G>C (p.Ala124Pro) c.1054G>C (p.Ala352Pro) c.1024G>C (p.Ala342Pro) c.898G>C (p.Ala300Pro) c.*356G>C (n.*356G>C) | |
16 | g.27362673G>T | CA395298505 | IL4R | c.1321G>T (p.Ala441Ser) c.1276G>T (p.Ala426Ser) c.230-1430G>T (n.230-1430G>T) c.*1364G>T (n.*1364G>T) c.841G>T (p.Ala281Ser) c.430G>T (p.Ala144Ser) c.370G>T (p.Ala124Ser) c.1054G>T (p.Ala352Ser) c.1024G>T (p.Ala342Ser) c.898G>T (p.Ala300Ser) c.*356G>T (n.*356G>T) | |
16 | g.27362674C>A | CA395298508 | IL4R | c.1322C>A (p.Ala441Asp) c.1277C>A (p.Ala426Asp) c.230-1429C>A (n.230-1429C>A) c.*1365C>A (n.*1365C>A) c.842C>A (p.Ala281Asp) c.431C>A (p.Ala144Asp) c.371C>A (p.Ala124Asp) c.1055C>A (p.Ala352Asp) c.1025C>A (p.Ala342Asp) c.899C>A (p.Ala300Asp) c.*357C>A (n.*357C>A) | |
16 | g.27362674C= | CA2215169618 | IL4R | c.1322C= (p.Ala441=) c.1277C= (p.Ala426=) c.230-1429C= (n.230-1429C=) c.*1365C= (n.*1365C=) c.842C= (p.Ala281=) c.431C= (p.Ala144=) c.371C= (p.Ala124=) c.1055C= (p.Ala352=) c.1025C= (p.Ala342=) c.899C= (p.Ala300=) c.*357C= (n.*357C=) | |
16 | g.27362674C>G | CA395298510 | IL4R | c.1322C>G (p.Ala441Gly) c.1277C>G (p.Ala426Gly) c.230-1429C>G (n.230-1429C>G) c.*1365C>G (n.*1365C>G) c.842C>G (p.Ala281Gly) c.431C>G (p.Ala144Gly) c.371C>G (p.Ala124Gly) c.1055C>G (p.Ala352Gly) c.1025C>G (p.Ala342Gly) c.899C>G (p.Ala300Gly) c.*357C>G (n.*357C>G) | |
16 | g.27362674C>T | CA7974539 | IL4R | c.1322C>T (p.Ala441Val) c.1277C>T (p.Ala426Val) c.230-1429C>T (n.230-1429C>T) c.*1365C>T (n.*1365C>T) c.842C>T (p.Ala281Val) c.431C>T (p.Ala144Val) c.371C>T (p.Ala124Val) c.1055C>T (p.Ala352Val) c.1025C>T (p.Ala342Val) c.899C>T (p.Ala300Val) c.*357C>T (n.*357C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362675T>A | CA494470540 | IL4R | c.1323T>A (p.Ala441=) c.1278T>A (p.Ala426=) c.230-1428T>A (n.230-1428T>A) c.*1366T>A (n.*1366T>A) c.843T>A (p.Ala281=) c.432T>A (p.Ala144=) c.372T>A (p.Ala124=) c.1056T>A (p.Ala352=) c.1026T>A (p.Ala342=) c.900T>A (p.Ala300=) c.*358T>A (n.*358T>A) | |
16 | g.27362675T>C | CA494470542 | IL4R | c.1323T>C (p.Ala441=) c.1278T>C (p.Ala426=) c.230-1428T>C (n.230-1428T>C) c.*1366T>C (n.*1366T>C) c.843T>C (p.Ala281=) c.432T>C (p.Ala144=) c.372T>C (p.Ala124=) c.1056T>C (p.Ala352=) c.1026T>C (p.Ala342=) c.900T>C (p.Ala300=) c.*358T>C (n.*358T>C) | |
16 | g.27362675T>G | CA494470541 | IL4R | c.1323T>G (p.Ala441=) c.1278T>G (p.Ala426=) c.230-1428T>G (n.230-1428T>G) c.*1366T>G (n.*1366T>G) c.843T>G (p.Ala281=) c.432T>G (p.Ala144=) c.372T>G (p.Ala124=) c.1056T>G (p.Ala352=) c.1026T>G (p.Ala342=) c.900T>G (p.Ala300=) c.*358T>G (n.*358T>G) | |
16 | g.27362676C>A | CA395298514 | IL4R | c.1324C>A (p.His442Asn) c.1279C>A (p.His427Asn) c.230-1427C>A (n.230-1427C>A) c.*1367C>A (n.*1367C>A) c.844C>A (p.His282Asn) c.433C>A (p.His145Asn) c.373C>A (p.His125Asn) c.1057C>A (p.His353Asn) c.1027C>A (p.His343Asn) c.901C>A (p.His301Asn) c.*359C>A (n.*359C>A) | |
16 | g.27362676C= | CA2215169620 | IL4R | c.1324C= (p.His442=) c.1279C= (p.His427=) c.230-1427C= (n.230-1427C=) c.*1367C= (n.*1367C=) c.844C= (p.His282=) c.433C= (p.His145=) c.373C= (p.His125=) c.1057C= (p.His353=) c.1027C= (p.His343=) c.901C= (p.His301=) c.*359C= (n.*359C=) | |
16 | g.27362676C>G | CA395298517 | IL4R | c.1324C>G (p.His442Asp) c.1279C>G (p.His427Asp) c.230-1427C>G (n.230-1427C>G) c.*1367C>G (n.*1367C>G) c.844C>G (p.His282Asp) c.433C>G (p.His145Asp) c.373C>G (p.His125Asp) c.1057C>G (p.His353Asp) c.1027C>G (p.His343Asp) c.901C>G (p.His301Asp) c.*359C>G (n.*359C>G) | |
16 | g.27362676C>T | CA395298518 | IL4R | c.1324C>T (p.His442Tyr) c.1279C>T (p.His427Tyr) c.230-1427C>T (n.230-1427C>T) c.*1367C>T (n.*1367C>T) c.844C>T (p.His282Tyr) c.433C>T (p.His145Tyr) c.373C>T (p.His125Tyr) c.1057C>T (p.His353Tyr) c.1027C>T (p.His343Tyr) c.901C>T (p.His301Tyr) c.*359C>T (n.*359C>T) | dbSNP gnomAD v4 |
16 | g.27362677A>C | CA395298523 | IL4R | c.1325A>C (p.His442Pro) c.1280A>C (p.His427Pro) c.230-1426A>C (n.230-1426A>C) c.*1368A>C (n.*1368A>C) c.845A>C (p.His282Pro) c.434A>C (p.His145Pro) c.374A>C (p.His125Pro) c.1058A>C (p.His353Pro) c.1028A>C (p.His343Pro) c.902A>C (p.His301Pro) c.*360A>C (n.*360A>C) | |
16 | g.27362677A>G | CA395298522 | IL4R | c.1325A>G (p.His442Arg) c.1280A>G (p.His427Arg) c.230-1426A>G (n.230-1426A>G) c.*1368A>G (n.*1368A>G) c.845A>G (p.His282Arg) c.434A>G (p.His145Arg) c.374A>G (p.His125Arg) c.1058A>G (p.His353Arg) c.1028A>G (p.His343Arg) c.902A>G (p.His301Arg) c.*360A>G (n.*360A>G) | |
16 | g.27362677A>T | CA395298521 | IL4R | c.1325A>T (p.His442Leu) c.1280A>T (p.His427Leu) c.230-1426A>T (n.230-1426A>T) c.*1368A>T (n.*1368A>T) c.845A>T (p.His282Leu) c.434A>T (p.His145Leu) c.374A>T (p.His125Leu) c.1058A>T (p.His353Leu) c.1028A>T (p.His343Leu) c.902A>T (p.His301Leu) c.*360A>T (n.*360A>T) | |
16 | g.27362678C>A | CA395298526 | IL4R | c.1326C>A (p.His442Gln) c.1281C>A (p.His427Gln) c.230-1425C>A (n.230-1425C>A) c.*1369C>A (n.*1369C>A) c.846C>A (p.His282Gln) c.435C>A (p.His145Gln) c.375C>A (p.His125Gln) c.1059C>A (p.His353Gln) c.1029C>A (p.His343Gln) c.903C>A (p.His301Gln) c.*361C>A (n.*361C>A) | |
16 | g.27362678C>G | CA395298528 | IL4R | c.1326C>G (p.His442Gln) c.1281C>G (p.His427Gln) c.230-1425C>G (n.230-1425C>G) c.*1369C>G (n.*1369C>G) c.846C>G (p.His282Gln) c.435C>G (p.His145Gln) c.375C>G (p.His125Gln) c.1059C>G (p.His353Gln) c.1029C>G (p.His343Gln) c.903C>G (p.His301Gln) c.*361C>G (n.*361C>G) | |
16 | g.27362678C>T | CA494470543 | IL4R | c.1326C>T (p.His442=) c.1281C>T (p.His427=) c.230-1425C>T (n.230-1425C>T) c.*1369C>T (n.*1369C>T) c.846C>T (p.His282=) c.435C>T (p.His145=) c.375C>T (p.His125=) c.1059C>T (p.His353=) c.1029C>T (p.His343=) c.903C>T (p.His301=) c.*361C>T (n.*361C>T) | |
16 | g.27362679A= | CA2215169623 | IL4R | c.1327A= (p.Met443=) c.1282A= (p.Met428=) c.230-1424A= (n.230-1424A=) c.*1370A= (n.*1370A=) c.847A= (p.Met283=) c.436A= (p.Met146=) c.376A= (p.Met126=) c.1060A= (p.Met354=) c.1030A= (p.Met344=) c.904A= (p.Met302=) c.*362A= (n.*362A=) | |
16 | g.27362679A>C | CA395298530 | IL4R | c.1327A>C (p.Met443Leu) c.1282A>C (p.Met428Leu) c.230-1424A>C (n.230-1424A>C) c.*1370A>C (n.*1370A>C) c.847A>C (p.Met283Leu) c.436A>C (p.Met146Leu) c.376A>C (p.Met126Leu) c.1060A>C (p.Met354Leu) c.1030A>C (p.Met344Leu) c.904A>C (p.Met302Leu) c.*362A>C (n.*362A>C) | |
16 | g.27362679A>G | CA7974540 | IL4R | c.1327A>G (p.Met443Val) c.1282A>G (p.Met428Val) c.230-1424A>G (n.230-1424A>G) c.*1370A>G (n.*1370A>G) c.847A>G (p.Met283Val) c.436A>G (p.Met146Val) c.376A>G (p.Met126Val) c.1060A>G (p.Met354Val) c.1030A>G (p.Met344Val) c.904A>G (p.Met302Val) c.*362A>G (n.*362A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362679A>T | CA395298533 | IL4R | c.1327A>T (p.Met443Leu) c.1282A>T (p.Met428Leu) c.230-1424A>T (n.230-1424A>T) c.*1370A>T (n.*1370A>T) c.847A>T (p.Met283Leu) c.436A>T (p.Met146Leu) c.376A>T (p.Met126Leu) c.1060A>T (p.Met354Leu) c.1030A>T (p.Met344Leu) c.904A>T (p.Met302Leu) c.*362A>T (n.*362A>T) | |
16 | g.27362680T>A | CA395298536 | IL4R | c.1328T>A (p.Met443Lys) c.1283T>A (p.Met428Lys) c.230-1423T>A (n.230-1423T>A) c.*1371T>A (n.*1371T>A) c.848T>A (p.Met283Lys) c.437T>A (p.Met146Lys) c.377T>A (p.Met126Lys) c.1061T>A (p.Met354Lys) c.1031T>A (p.Met344Lys) c.905T>A (p.Met302Lys) c.*363T>A (n.*363T>A) | |
16 | g.27362680T>C | CA395298539 | IL4R | c.1328T>C (p.Met443Thr) c.1283T>C (p.Met428Thr) c.230-1423T>C (n.230-1423T>C) c.*1371T>C (n.*1371T>C) c.848T>C (p.Met283Thr) c.437T>C (p.Met146Thr) c.377T>C (p.Met126Thr) c.1061T>C (p.Met354Thr) c.1031T>C (p.Met344Thr) c.905T>C (p.Met302Thr) c.*363T>C (n.*363T>C) | |
16 | g.27362680T>G | CA395298541 | IL4R | c.1328T>G (p.Met443Arg) c.1283T>G (p.Met428Arg) c.230-1423T>G (n.230-1423T>G) c.*1371T>G (n.*1371T>G) c.848T>G (p.Met283Arg) c.437T>G (p.Met146Arg) c.377T>G (p.Met126Arg) c.1061T>G (p.Met354Arg) c.1031T>G (p.Met344Arg) c.905T>G (p.Met302Arg) c.*363T>G (n.*363T>G) | |
16 | g.27362681G>A | CA395298544 | IL4R | c.1329G>A (p.Met443Ile) c.1284G>A (p.Met428Ile) c.230-1422G>A (n.230-1422G>A) c.*1372G>A (n.*1372G>A) c.849G>A (p.Met283Ile) c.438G>A (p.Met146Ile) c.378G>A (p.Met126Ile) c.1062G>A (p.Met354Ile) c.1032G>A (p.Met344Ile) c.906G>A (p.Met302Ile) c.*364G>A (n.*364G>A) | |
16 | g.27362681G>C | CA395298547 | IL4R | c.1329G>C (p.Met443Ile) c.1284G>C (p.Met428Ile) c.230-1422G>C (n.230-1422G>C) c.*1372G>C (n.*1372G>C) c.849G>C (p.Met283Ile) c.438G>C (p.Met146Ile) c.378G>C (p.Met126Ile) c.1062G>C (p.Met354Ile) c.1032G>C (p.Met344Ile) c.906G>C (p.Met302Ile) c.*364G>C (n.*364G>C) | |
16 | g.27362681G= | CA2215169624 | IL4R | c.1329G= (p.Met443=) c.1284G= (p.Met428=) c.230-1422G= (n.230-1422G=) c.*1372G= (n.*1372G=) c.849G= (p.Met283=) c.438G= (p.Met146=) c.378G= (p.Met126=) c.1062G= (p.Met354=) c.1032G= (p.Met344=) c.906G= (p.Met302=) c.*364G= (n.*364G=) | |
16 | g.27362681G>T | CA395298549 | IL4R | c.1329G>T (p.Met443Ile) c.1284G>T (p.Met428Ile) c.230-1422G>T (n.230-1422G>T) c.*1372G>T (n.*1372G>T) c.849G>T (p.Met283Ile) c.438G>T (p.Met146Ile) c.378G>T (p.Met126Ile) c.1062G>T (p.Met354Ile) c.1032G>T (p.Met344Ile) c.906G>T (p.Met302Ile) c.*364G>T (n.*364G>T) | dbSNP |
16 | g.27362682C>A | CA395298557 | IL4R | c.1330C>A (p.Pro444Thr) c.1285C>A (p.Pro429Thr) c.230-1421C>A (n.230-1421C>A) c.*1373C>A (n.*1373C>A) c.850C>A (p.Pro284Thr) c.439C>A (p.Pro147Thr) c.379C>A (p.Pro127Thr) c.1063C>A (p.Pro355Thr) c.1033C>A (p.Pro345Thr) c.907C>A (p.Pro303Thr) c.*365C>A (n.*365C>A) | |
16 | g.27362682C= | CA2215169625 | IL4R | c.1330C= (p.Pro444=) c.1285C= (p.Pro429=) c.230-1421C= (n.230-1421C=) c.*1373C= (n.*1373C=) c.850C= (p.Pro284=) c.439C= (p.Pro147=) c.379C= (p.Pro127=) c.1063C= (p.Pro355=) c.1033C= (p.Pro345=) c.907C= (p.Pro303=) c.*365C= (n.*365C=) | |
16 | g.27362682C>G | CA395298555 | IL4R | c.1330C>G (p.Pro444Ala) c.1285C>G (p.Pro429Ala) c.230-1421C>G (n.230-1421C>G) c.*1373C>G (n.*1373C>G) c.850C>G (p.Pro284Ala) c.439C>G (p.Pro147Ala) c.379C>G (p.Pro127Ala) c.1063C>G (p.Pro355Ala) c.1033C>G (p.Pro345Ala) c.907C>G (p.Pro303Ala) c.*365C>G (n.*365C>G) | |
16 | g.27362682C>T | CA7974541 | IL4R | c.1330C>T (p.Pro444Ser) c.1285C>T (p.Pro429Ser) c.230-1421C>T (n.230-1421C>T) c.*1373C>T (n.*1373C>T) c.850C>T (p.Pro284Ser) c.439C>T (p.Pro147Ser) c.379C>T (p.Pro127Ser) c.1063C>T (p.Pro355Ser) c.1033C>T (p.Pro345Ser) c.907C>T (p.Pro303Ser) c.*365C>T (n.*365C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362683C>A | CA395298560 | IL4R | c.1331C>A (p.Pro444His) c.1286C>A (p.Pro429His) c.230-1420C>A (n.230-1420C>A) c.*1374C>A (n.*1374C>A) c.851C>A (p.Pro284His) c.440C>A (p.Pro147His) c.380C>A (p.Pro127His) c.1064C>A (p.Pro355His) c.1034C>A (p.Pro345His) c.908C>A (p.Pro303His) c.*366C>A (n.*366C>A) | |
16 | g.27362683C>G | CA395298563 | IL4R | c.1331C>G (p.Pro444Arg) c.1286C>G (p.Pro429Arg) c.230-1420C>G (n.230-1420C>G) c.*1374C>G (n.*1374C>G) c.851C>G (p.Pro284Arg) c.440C>G (p.Pro147Arg) c.380C>G (p.Pro127Arg) c.1064C>G (p.Pro355Arg) c.1034C>G (p.Pro345Arg) c.908C>G (p.Pro303Arg) c.*366C>G (n.*366C>G) | |
16 | g.27362683C>T | CA395298566 | IL4R | c.1331C>T (p.Pro444Leu) c.1286C>T (p.Pro429Leu) c.230-1420C>T (n.230-1420C>T) c.*1374C>T (n.*1374C>T) c.851C>T (p.Pro284Leu) c.440C>T (p.Pro147Leu) c.380C>T (p.Pro127Leu) c.1064C>T (p.Pro355Leu) c.1034C>T (p.Pro345Leu) c.908C>T (p.Pro303Leu) c.*366C>T (n.*366C>T) | gnomAD v4 |
16 | g.27362684C>A | CA494470545 | IL4R | c.1332C>A (p.Pro444=) c.1287C>A (p.Pro429=) c.230-1419C>A (n.230-1419C>A) c.*1375C>A (n.*1375C>A) c.852C>A (p.Pro284=) c.441C>A (p.Pro147=) c.381C>A (p.Pro127=) c.1065C>A (p.Pro355=) c.1035C>A (p.Pro345=) c.909C>A (p.Pro303=) c.*367C>A (n.*367C>A) | |
16 | g.27362684C= | CA2215169626 | IL4R | c.1332C= (p.Pro444=) c.1287C= (p.Pro429=) c.230-1419C= (n.230-1419C=) c.*1375C= (n.*1375C=) c.852C= (p.Pro284=) c.441C= (p.Pro147=) c.381C= (p.Pro127=) c.1065C= (p.Pro355=) c.1035C= (p.Pro345=) c.909C= (p.Pro303=) c.*367C= (n.*367C=) | |
16 | g.27362684C>G | CA494470544 | IL4R | c.1332C>G (p.Pro444=) c.1287C>G (p.Pro429=) c.230-1419C>G (n.230-1419C>G) c.*1375C>G (n.*1375C>G) c.852C>G (p.Pro284=) c.441C>G (p.Pro147=) c.381C>G (p.Pro127=) c.1065C>G (p.Pro355=) c.1035C>G (p.Pro345=) c.909C>G (p.Pro303=) c.*367C>G (n.*367C>G) | |
16 | g.27362684C>T | CA7974542 | IL4R | c.1332C>T (p.Pro444=) c.1287C>T (p.Pro429=) c.230-1419C>T (n.230-1419C>T) c.*1375C>T (n.*1375C>T) c.852C>T (p.Pro284=) c.441C>T (p.Pro147=) c.381C>T (p.Pro127=) c.1065C>T (p.Pro355=) c.1035C>T (p.Pro345=) c.909C>T (p.Pro303=) c.*367C>T (n.*367C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362685T>A | CA395298571 | IL4R | c.1333T>A (p.Trp445Arg) c.1288T>A (p.Trp430Arg) c.230-1418T>A (n.230-1418T>A) c.*1376T>A (n.*1376T>A) c.853T>A (p.Trp285Arg) c.442T>A (p.Trp148Arg) c.382T>A (p.Trp128Arg) c.1066T>A (p.Trp356Arg) c.1036T>A (p.Trp346Arg) c.910T>A (p.Trp304Arg) c.*368T>A (n.*368T>A) | |
16 | g.27362685T>C | CA395298573 | IL4R | c.1333T>C (p.Trp445Arg) c.1288T>C (p.Trp430Arg) c.230-1418T>C (n.230-1418T>C) c.*1376T>C (n.*1376T>C) c.853T>C (p.Trp285Arg) c.442T>C (p.Trp148Arg) c.382T>C (p.Trp128Arg) c.1066T>C (p.Trp356Arg) c.1036T>C (p.Trp346Arg) c.910T>C (p.Trp304Arg) c.*368T>C (n.*368T>C) | |
16 | g.27362685T>G | CA395298575 | IL4R | c.1333T>G (p.Trp445Gly) c.1288T>G (p.Trp430Gly) c.230-1418T>G (n.230-1418T>G) c.*1376T>G (n.*1376T>G) c.853T>G (p.Trp285Gly) c.442T>G (p.Trp148Gly) c.382T>G (p.Trp128Gly) c.1066T>G (p.Trp356Gly) c.1036T>G (p.Trp346Gly) c.910T>G (p.Trp304Gly) c.*368T>G (n.*368T>G) | |
16 | g.27362686G>A | CA395298579 | IL4R | c.1334G>A (p.Trp445Ter) c.1289G>A (p.Trp430Ter) c.230-1417G>A (n.230-1417G>A) c.*1377G>A (n.*1377G>A) c.854G>A (p.Trp285Ter) c.443G>A (p.Trp148Ter) c.383G>A (p.Trp128Ter) c.1067G>A (p.Trp356Ter) c.1037G>A (p.Trp346Ter) c.911G>A (p.Trp304Ter) c.*369G>A (n.*369G>A) | |
16 | g.27362686G>C | CA395298581 | IL4R | c.1334G>C (p.Trp445Ser) c.1289G>C (p.Trp430Ser) c.230-1417G>C (n.230-1417G>C) c.*1377G>C (n.*1377G>C) c.854G>C (p.Trp285Ser) c.443G>C (p.Trp148Ser) c.383G>C (p.Trp128Ser) c.1067G>C (p.Trp356Ser) c.1037G>C (p.Trp346Ser) c.911G>C (p.Trp304Ser) c.*369G>C (n.*369G>C) | |
16 | g.27362686G>T | CA395298583 | IL4R | c.1334G>T (p.Trp445Leu) c.1289G>T (p.Trp430Leu) c.230-1417G>T (n.230-1417G>T) c.*1377G>T (n.*1377G>T) c.854G>T (p.Trp285Leu) c.443G>T (p.Trp148Leu) c.383G>T (p.Trp128Leu) c.1067G>T (p.Trp356Leu) c.1037G>T (p.Trp346Leu) c.911G>T (p.Trp304Leu) c.*369G>T (n.*369G>T) | |
16 | g.27362687G>A | CA395298587 | IL4R | c.1335G>A (p.Trp445Ter) c.1290G>A (p.Trp430Ter) c.230-1416G>A (n.230-1416G>A) c.*1378G>A (n.*1378G>A) c.855G>A (p.Trp285Ter) c.444G>A (p.Trp148Ter) c.384G>A (p.Trp128Ter) c.1068G>A (p.Trp356Ter) c.1038G>A (p.Trp346Ter) c.912G>A (p.Trp304Ter) c.*370G>A (n.*370G>A) | |
16 | g.27362687G>C | CA395298589 | IL4R | c.1335G>C (p.Trp445Cys) c.1290G>C (p.Trp430Cys) c.230-1416G>C (n.230-1416G>C) c.*1378G>C (n.*1378G>C) c.855G>C (p.Trp285Cys) c.444G>C (p.Trp148Cys) c.384G>C (p.Trp128Cys) c.1068G>C (p.Trp356Cys) c.1038G>C (p.Trp346Cys) c.912G>C (p.Trp304Cys) c.*370G>C (n.*370G>C) | |
16 | g.27362687G>T | CA395298591 | IL4R | c.1335G>T (p.Trp445Cys) c.1290G>T (p.Trp430Cys) c.230-1416G>T (n.230-1416G>T) c.*1378G>T (n.*1378G>T) c.855G>T (p.Trp285Cys) c.444G>T (p.Trp148Cys) c.384G>T (p.Trp128Cys) c.1068G>T (p.Trp356Cys) c.1038G>T (p.Trp346Cys) c.912G>T (p.Trp304Cys) c.*370G>T (n.*370G>T) | |
16 | g.27362688G>A | CA395298596 | IL4R | c.1336G>A (p.Asp446Asn) c.1291G>A (p.Asp431Asn) c.230-1415G>A (n.230-1415G>A) c.*1379G>A (n.*1379G>A) c.856G>A (p.Asp286Asn) c.445G>A (p.Asp149Asn) c.385G>A (p.Asp129Asn) c.1069G>A (p.Asp357Asn) c.1039G>A (p.Asp347Asn) c.913G>A (p.Asp305Asn) c.*371G>A (n.*371G>A) | gnomAD v4 |
16 | g.27362688G>C | CA395298599 | IL4R | c.1336G>C (p.Asp446His) c.1291G>C (p.Asp431His) c.230-1415G>C (n.230-1415G>C) c.*1379G>C (n.*1379G>C) c.856G>C (p.Asp286His) c.445G>C (p.Asp149His) c.385G>C (p.Asp129His) c.1069G>C (p.Asp357His) c.1039G>C (p.Asp347His) c.913G>C (p.Asp305His) c.*371G>C (n.*371G>C) | |
16 | g.27362688G>T | CA395298594 | IL4R | c.1336G>T (p.Asp446Tyr) c.1291G>T (p.Asp431Tyr) c.230-1415G>T (n.230-1415G>T) c.*1379G>T (n.*1379G>T) c.856G>T (p.Asp286Tyr) c.445G>T (p.Asp149Tyr) c.385G>T (p.Asp129Tyr) c.1069G>T (p.Asp357Tyr) c.1039G>T (p.Asp347Tyr) c.913G>T (p.Asp305Tyr) c.*371G>T (n.*371G>T) | |
16 | g.27362689A>C | CA395298602 | IL4R | c.1337A>C (p.Asp446Ala) c.1292A>C (p.Asp431Ala) c.230-1414A>C (n.230-1414A>C) c.*1380A>C (n.*1380A>C) c.857A>C (p.Asp286Ala) c.446A>C (p.Asp149Ala) c.386A>C (p.Asp129Ala) c.1070A>C (p.Asp357Ala) c.1040A>C (p.Asp347Ala) c.914A>C (p.Asp305Ala) c.*372A>C (n.*372A>C) | |
16 | g.27362689A>G | CA395298604 | IL4R | c.1337A>G (p.Asp446Gly) c.1292A>G (p.Asp431Gly) c.230-1414A>G (n.230-1414A>G) c.*1380A>G (n.*1380A>G) c.857A>G (p.Asp286Gly) c.446A>G (p.Asp149Gly) c.386A>G (p.Asp129Gly) c.1070A>G (p.Asp357Gly) c.1040A>G (p.Asp347Gly) c.914A>G (p.Asp305Gly) c.*372A>G (n.*372A>G) | |
16 | g.27362689A>T | CA395298607 | IL4R | c.1337A>T (p.Asp446Val) c.1292A>T (p.Asp431Val) c.230-1414A>T (n.230-1414A>T) c.*1380A>T (n.*1380A>T) c.857A>T (p.Asp286Val) c.446A>T (p.Asp149Val) c.386A>T (p.Asp129Val) c.1070A>T (p.Asp357Val) c.1040A>T (p.Asp347Val) c.914A>T (p.Asp305Val) c.*372A>T (n.*372A>T) | |
16 | g.27362690T>A | CA395298610 | IL4R | c.1338T>A (p.Asp446Glu) c.1293T>A (p.Asp431Glu) c.230-1413T>A (n.230-1413T>A) c.*1381T>A (n.*1381T>A) c.858T>A (p.Asp286Glu) c.447T>A (p.Asp149Glu) c.387T>A (p.Asp129Glu) c.1071T>A (p.Asp357Glu) c.1041T>A (p.Asp347Glu) c.915T>A (p.Asp305Glu) c.*373T>A (n.*373T>A) | |
16 | g.27362690T>C | CA494470546 | IL4R | c.1338T>C (p.Asp446=) c.1293T>C (p.Asp431=) c.230-1413T>C (n.230-1413T>C) c.*1381T>C (n.*1381T>C) c.858T>C (p.Asp286=) c.447T>C (p.Asp149=) c.387T>C (p.Asp129=) c.1071T>C (p.Asp357=) c.1041T>C (p.Asp347=) c.915T>C (p.Asp305=) c.*373T>C (n.*373T>C) | |
16 | g.27362690T>G | CA395298612 | IL4R | c.1338T>G (p.Asp446Glu) c.1293T>G (p.Asp431Glu) c.230-1413T>G (n.230-1413T>G) c.*1381T>G (n.*1381T>G) c.858T>G (p.Asp286Glu) c.447T>G (p.Asp149Glu) c.387T>G (p.Asp129Glu) c.1071T>G (p.Asp357Glu) c.1041T>G (p.Asp347Glu) c.915T>G (p.Asp305Glu) c.*373T>G (n.*373T>G) | gnomAD v4 |
16 | g.27362691G>A | CA395298616 | IL4R | c.1339G>A (p.Glu447Lys) c.1294G>A (p.Glu432Lys) c.230-1412G>A (n.230-1412G>A) c.*1382G>A (n.*1382G>A) c.859G>A (p.Glu287Lys) c.448G>A (p.Glu150Lys) c.388G>A (p.Glu130Lys) c.1072G>A (p.Glu358Lys) c.1042G>A (p.Glu348Lys) c.916G>A (p.Glu306Lys) c.*374G>A (n.*374G>A) | |
16 | g.27362691G>C | CA395298617 | IL4R | c.1339G>C (p.Glu447Gln) c.1294G>C (p.Glu432Gln) c.230-1412G>C (n.230-1412G>C) c.*1382G>C (n.*1382G>C) c.859G>C (p.Glu287Gln) c.448G>C (p.Glu150Gln) c.388G>C (p.Glu130Gln) c.1072G>C (p.Glu358Gln) c.1042G>C (p.Glu348Gln) c.916G>C (p.Glu306Gln) c.*374G>C (n.*374G>C) | |
16 | g.27362691G>T | CA395298620 | IL4R | c.1339G>T (p.Glu447Ter) c.1294G>T (p.Glu432Ter) c.230-1412G>T (n.230-1412G>T) c.*1382G>T (n.*1382G>T) c.859G>T (p.Glu287Ter) c.448G>T (p.Glu150Ter) c.388G>T (p.Glu130Ter) c.1072G>T (p.Glu358Ter) c.1042G>T (p.Glu348Ter) c.916G>T (p.Glu306Ter) c.*374G>T (n.*374G>T) | |
16 | g.27362692A>C | CA395298623 | IL4R | c.1340A>C (p.Glu447Ala) c.1295A>C (p.Glu432Ala) c.230-1411A>C (n.230-1411A>C) c.*1383A>C (n.*1383A>C) c.860A>C (p.Glu287Ala) c.449A>C (p.Glu150Ala) c.389A>C (p.Glu130Ala) c.1073A>C (p.Glu358Ala) c.1043A>C (p.Glu348Ala) c.917A>C (p.Glu306Ala) c.*375A>C (n.*375A>C) | |
16 | g.27362692A>G | CA395298626 | IL4R | c.1340A>G (p.Glu447Gly) c.1295A>G (p.Glu432Gly) c.230-1411A>G (n.230-1411A>G) c.*1383A>G (n.*1383A>G) c.860A>G (p.Glu287Gly) c.449A>G (p.Glu150Gly) c.389A>G (p.Glu130Gly) c.1073A>G (p.Glu358Gly) c.1043A>G (p.Glu348Gly) c.917A>G (p.Glu306Gly) c.*375A>G (n.*375A>G) | |
16 | g.27362692A>T | CA395298628 | IL4R | c.1340A>T (p.Glu447Val) c.1295A>T (p.Glu432Val) c.230-1411A>T (n.230-1411A>T) c.*1383A>T (n.*1383A>T) c.860A>T (p.Glu287Val) c.449A>T (p.Glu150Val) c.389A>T (p.Glu130Val) c.1073A>T (p.Glu358Val) c.1043A>T (p.Glu348Val) c.917A>T (p.Glu306Val) c.*375A>T (n.*375A>T) | |
16 | g.27362693G>A | CA279686685 | IL4R | c.1341G>A (p.Glu447=) c.1296G>A (p.Glu432=) c.230-1410G>A (n.230-1410G>A) c.*1384G>A (n.*1384G>A) c.861G>A (p.Glu287=) c.450G>A (p.Glu150=) c.390G>A (p.Glu130=) c.1074G>A (p.Glu358=) c.1044G>A (p.Glu348=) c.918G>A (p.Glu306=) c.*376G>A (n.*376G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362693G>C | CA395298630 | IL4R | c.1341G>C (p.Glu447Asp) c.1296G>C (p.Glu432Asp) c.230-1410G>C (n.230-1410G>C) c.*1384G>C (n.*1384G>C) c.861G>C (p.Glu287Asp) c.450G>C (p.Glu150Asp) c.390G>C (p.Glu130Asp) c.1074G>C (p.Glu358Asp) c.1044G>C (p.Glu348Asp) c.918G>C (p.Glu306Asp) c.*376G>C (n.*376G>C) | |
16 | g.27362693G= | CA2215169627 | IL4R | c.1341G= (p.Glu447=) c.1296G= (p.Glu432=) c.230-1410G= (n.230-1410G=) c.*1384G= (n.*1384G=) c.861G= (p.Glu287=) c.450G= (p.Glu150=) c.390G= (p.Glu130=) c.1074G= (p.Glu358=) c.1044G= (p.Glu348=) c.918G= (p.Glu306=) c.*376G= (n.*376G=) | |
16 | g.27362693G>T | CA395298633 | IL4R | c.1341G>T (p.Glu447Asp) c.1296G>T (p.Glu432Asp) c.230-1410G>T (n.230-1410G>T) c.*1384G>T (n.*1384G>T) c.861G>T (p.Glu287Asp) c.450G>T (p.Glu150Asp) c.390G>T (p.Glu130Asp) c.1074G>T (p.Glu358Asp) c.1044G>T (p.Glu348Asp) c.918G>T (p.Glu306Asp) c.*376G>T (n.*376G>T) | |
16 | g.27362694T>A | CA279686694 | IL4R | c.1342T>A (p.Phe448Ile) c.1297T>A (p.Phe433Ile) c.230-1409T>A (n.230-1409T>A) c.*1385T>A (n.*1385T>A) c.862T>A (p.Phe288Ile) c.451T>A (p.Phe151Ile) c.391T>A (p.Phe131Ile) c.1075T>A (p.Phe359Ile) c.1045T>A (p.Phe349Ile) c.919T>A (p.Phe307Ile) c.*377T>A (n.*377T>A) | dbSNP gnomAD v2 |
16 | g.27362694T>C | CA395298637 | IL4R | c.1342T>C (p.Phe448Leu) c.1297T>C (p.Phe433Leu) c.230-1409T>C (n.230-1409T>C) c.*1385T>C (n.*1385T>C) c.862T>C (p.Phe288Leu) c.451T>C (p.Phe151Leu) c.391T>C (p.Phe131Leu) c.1075T>C (p.Phe359Leu) c.1045T>C (p.Phe349Leu) c.919T>C (p.Phe307Leu) c.*377T>C (n.*377T>C) | |
16 | g.27362694T>G | CA395298635 | IL4R | c.1342T>G (p.Phe448Val) c.1297T>G (p.Phe433Val) c.230-1409T>G (n.230-1409T>G) c.*1385T>G (n.*1385T>G) c.862T>G (p.Phe288Val) c.451T>G (p.Phe151Val) c.391T>G (p.Phe131Val) c.1075T>G (p.Phe359Val) c.1045T>G (p.Phe349Val) c.919T>G (p.Phe307Val) c.*377T>G (n.*377T>G) | |
16 | g.27362694T= | CA2215169628 | IL4R | c.1342T= (p.Phe448=) c.1297T= (p.Phe433=) c.230-1409T= (n.230-1409T=) c.*1385T= (n.*1385T=) c.862T= (p.Phe288=) c.451T= (p.Phe151=) c.391T= (p.Phe131=) c.1075T= (p.Phe359=) c.1045T= (p.Phe349=) c.919T= (p.Phe307=) c.*377T= (n.*377T=) | |
16 | g.27362695T>A | CA395298640 | IL4R | c.1343T>A (p.Phe448Tyr) c.1298T>A (p.Phe433Tyr) c.230-1408T>A (n.230-1408T>A) c.*1386T>A (n.*1386T>A) c.863T>A (p.Phe288Tyr) c.452T>A (p.Phe151Tyr) c.392T>A (p.Phe131Tyr) c.1076T>A (p.Phe359Tyr) c.1046T>A (p.Phe349Tyr) c.920T>A (p.Phe307Tyr) c.*378T>A (n.*378T>A) | |
16 | g.27362695T>C | CA7974543 | IL4R | c.1343T>C (p.Phe448Ser) c.1298T>C (p.Phe433Ser) c.230-1408T>C (n.230-1408T>C) c.*1386T>C (n.*1386T>C) c.863T>C (p.Phe288Ser) c.452T>C (p.Phe151Ser) c.392T>C (p.Phe131Ser) c.1076T>C (p.Phe359Ser) c.1046T>C (p.Phe349Ser) c.920T>C (p.Phe307Ser) c.*378T>C (n.*378T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362695T>G | CA395298644 | IL4R | c.1343T>G (p.Phe448Cys) c.1298T>G (p.Phe433Cys) c.230-1408T>G (n.230-1408T>G) c.*1386T>G (n.*1386T>G) c.863T>G (p.Phe288Cys) c.452T>G (p.Phe151Cys) c.392T>G (p.Phe131Cys) c.1076T>G (p.Phe359Cys) c.1046T>G (p.Phe349Cys) c.920T>G (p.Phe307Cys) c.*378T>G (n.*378T>G) | |
16 | g.27362695T= | CA2215169632 | IL4R | c.1343T= (p.Phe448=) c.1298T= (p.Phe433=) c.230-1408T= (n.230-1408T=) c.*1386T= (n.*1386T=) c.863T= (p.Phe288=) c.452T= (p.Phe151=) c.392T= (p.Phe131=) c.1076T= (p.Phe359=) c.1046T= (p.Phe349=) c.920T= (p.Phe307=) c.*378T= (n.*378T=) | |
16 | g.27362696C>A | CA395298647 | IL4R | c.1344C>A (p.Phe448Leu) c.1299C>A (p.Phe433Leu) c.230-1407C>A (n.230-1407C>A) c.*1387C>A (n.*1387C>A) c.864C>A (p.Phe288Leu) c.453C>A (p.Phe151Leu) c.393C>A (p.Phe131Leu) c.1077C>A (p.Phe359Leu) c.1047C>A (p.Phe349Leu) c.921C>A (p.Phe307Leu) c.*379C>A (n.*379C>A) | |
16 | g.27362696C>G | CA395298649 | IL4R | c.1344C>G (p.Phe448Leu) c.1299C>G (p.Phe433Leu) c.230-1407C>G (n.230-1407C>G) c.*1387C>G (n.*1387C>G) c.864C>G (p.Phe288Leu) c.453C>G (p.Phe151Leu) c.393C>G (p.Phe131Leu) c.1077C>G (p.Phe359Leu) c.1047C>G (p.Phe349Leu) c.921C>G (p.Phe307Leu) c.*379C>G (n.*379C>G) | |
16 | g.27362696C>T | CA494470547 | IL4R | c.1344C>T (p.Phe448=) c.1299C>T (p.Phe433=) c.230-1407C>T (n.230-1407C>T) c.*1387C>T (n.*1387C>T) c.864C>T (p.Phe288=) c.453C>T (p.Phe151=) c.393C>T (p.Phe131=) c.1077C>T (p.Phe359=) c.1047C>T (p.Phe349=) c.921C>T (p.Phe307=) c.*379C>T (n.*379C>T) | |
16 | g.27362697C>A | CA395298653 | IL4R | c.1345C>A (p.Pro449Thr) c.1300C>A (p.Pro434Thr) c.230-1406C>A (n.230-1406C>A) c.*1388C>A (n.*1388C>A) c.865C>A (p.Pro289Thr) c.454C>A (p.Pro152Thr) c.394C>A (p.Pro132Thr) c.1078C>A (p.Pro360Thr) c.1048C>A (p.Pro350Thr) c.922C>A (p.Pro308Thr) c.*380C>A (n.*380C>A) | |
16 | g.27362697C>G | CA395298654 | IL4R | c.1345C>G (p.Pro449Ala) c.1300C>G (p.Pro434Ala) c.230-1406C>G (n.230-1406C>G) c.*1388C>G (n.*1388C>G) c.865C>G (p.Pro289Ala) c.454C>G (p.Pro152Ala) c.394C>G (p.Pro132Ala) c.1078C>G (p.Pro360Ala) c.1048C>G (p.Pro350Ala) c.922C>G (p.Pro308Ala) c.*380C>G (n.*380C>G) | |
16 | g.27362697C>T | CA395298657 | IL4R | c.1345C>T (p.Pro449Ser) c.1300C>T (p.Pro434Ser) c.230-1406C>T (n.230-1406C>T) c.*1388C>T (n.*1388C>T) c.865C>T (p.Pro289Ser) c.454C>T (p.Pro152Ser) c.394C>T (p.Pro132Ser) c.1078C>T (p.Pro360Ser) c.1048C>T (p.Pro350Ser) c.922C>T (p.Pro308Ser) c.*380C>T (n.*380C>T) | |
16 | g.27362698C>A | CA395298661 | IL4R | c.1346C>A (p.Pro449Gln) c.1301C>A (p.Pro434Gln) c.230-1405C>A (n.230-1405C>A) c.*1389C>A (n.*1389C>A) c.866C>A (p.Pro289Gln) c.455C>A (p.Pro152Gln) c.395C>A (p.Pro132Gln) c.1079C>A (p.Pro360Gln) c.1049C>A (p.Pro350Gln) c.923C>A (p.Pro308Gln) c.*381C>A (n.*381C>A) | |
16 | g.27362698C= | CA2215169638 | IL4R | c.1346C= (p.Pro449=) c.1301C= (p.Pro434=) c.230-1405C= (n.230-1405C=) c.*1389C= (n.*1389C=) c.866C= (p.Pro289=) c.455C= (p.Pro152=) c.395C= (p.Pro132=) c.1079C= (p.Pro360=) c.1049C= (p.Pro350=) c.923C= (p.Pro308=) c.*381C= (n.*381C=) | |
16 | g.27362698C>G | CA7974544 | IL4R | c.1346C>G (p.Pro449Arg) c.1301C>G (p.Pro434Arg) c.230-1405C>G (n.230-1405C>G) c.*1389C>G (n.*1389C>G) c.866C>G (p.Pro289Arg) c.455C>G (p.Pro152Arg) c.395C>G (p.Pro132Arg) c.1079C>G (p.Pro360Arg) c.1049C>G (p.Pro350Arg) c.923C>G (p.Pro308Arg) c.*381C>G (n.*381C>G) | dbSNP ExAC |
16 | g.27362698C>T | CA395298665 | IL4R | c.1346C>T (p.Pro449Leu) c.1301C>T (p.Pro434Leu) c.230-1405C>T (n.230-1405C>T) c.*1389C>T (n.*1389C>T) c.866C>T (p.Pro289Leu) c.455C>T (p.Pro152Leu) c.395C>T (p.Pro132Leu) c.1079C>T (p.Pro360Leu) c.1049C>T (p.Pro350Leu) c.923C>T (p.Pro308Leu) c.*381C>T (n.*381C>T) | |
16 | g.27362699A= | CA2215169643 | IL4R | c.1347A= (p.Pro449=) c.1302A= (p.Pro434=) c.230-1404A= (n.230-1404A=) c.*1390A= (n.*1390A=) c.867A= (p.Pro289=) c.456A= (p.Pro152=) c.396A= (p.Pro132=) c.1080A= (p.Pro360=) c.1050A= (p.Pro350=) c.924A= (p.Pro308=) c.*382A= (n.*382A=) | |
16 | g.27362699A>C | CA494470550 | IL4R | c.1347A>C (p.Pro449=) c.1302A>C (p.Pro434=) c.230-1404A>C (n.230-1404A>C) c.*1390A>C (n.*1390A>C) c.867A>C (p.Pro289=) c.456A>C (p.Pro152=) c.396A>C (p.Pro132=) c.1080A>C (p.Pro360=) c.1050A>C (p.Pro350=) c.924A>C (p.Pro308=) c.*382A>C (n.*382A>C) | |
16 | g.27362699A>G | CA494470549 | IL4R | c.1347A>G (p.Pro449=) c.1302A>G (p.Pro434=) c.230-1404A>G (n.230-1404A>G) c.*1390A>G (n.*1390A>G) c.867A>G (p.Pro289=) c.456A>G (p.Pro152=) c.396A>G (p.Pro132=) c.1080A>G (p.Pro360=) c.1050A>G (p.Pro350=) c.924A>G (p.Pro308=) c.*382A>G (n.*382A>G) | |
16 | g.27362699A>T | CA494470548 | IL4R | c.1347A>T (p.Pro449=) c.1302A>T (p.Pro434=) c.230-1404A>T (n.230-1404A>T) c.*1390A>T (n.*1390A>T) c.867A>T (p.Pro289=) c.456A>T (p.Pro152=) c.396A>T (p.Pro132=) c.1080A>T (p.Pro360=) c.1050A>T (p.Pro350=) c.924A>T (p.Pro308=) c.*382A>T (n.*382A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362700A>C | CA395298669 | IL4R | c.1348A>C (p.Ser450Arg) c.1303A>C (p.Ser435Arg) c.230-1403A>C (n.230-1403A>C) c.*1391A>C (n.*1391A>C) c.868A>C (p.Ser290Arg) c.457A>C (p.Ser153Arg) c.397A>C (p.Ser133Arg) c.1081A>C (p.Ser361Arg) c.1051A>C (p.Ser351Arg) c.925A>C (p.Ser309Arg) c.*383A>C (n.*383A>C) | |
16 | g.27362700A>G | CA395298670 | IL4R | c.1348A>G (p.Ser450Gly) c.1303A>G (p.Ser435Gly) c.230-1403A>G (n.230-1403A>G) c.*1391A>G (n.*1391A>G) c.868A>G (p.Ser290Gly) c.457A>G (p.Ser153Gly) c.397A>G (p.Ser133Gly) c.1081A>G (p.Ser361Gly) c.1051A>G (p.Ser351Gly) c.925A>G (p.Ser309Gly) c.*383A>G (n.*383A>G) | |
16 | g.27362700A>T | CA395298672 | IL4R | c.1348A>T (p.Ser450Cys) c.1303A>T (p.Ser435Cys) c.230-1403A>T (n.230-1403A>T) c.*1391A>T (n.*1391A>T) c.868A>T (p.Ser290Cys) c.457A>T (p.Ser153Cys) c.397A>T (p.Ser133Cys) c.1081A>T (p.Ser361Cys) c.1051A>T (p.Ser351Cys) c.925A>T (p.Ser309Cys) c.*383A>T (n.*383A>T) | |
16 | g.27362701G>A | CA395298676 | IL4R | c.1349G>A (p.Ser450Asn) c.1304G>A (p.Ser435Asn) c.230-1402G>A (n.230-1402G>A) c.*1392G>A (n.*1392G>A) c.869G>A (p.Ser290Asn) c.458G>A (p.Ser153Asn) c.398G>A (p.Ser133Asn) c.1082G>A (p.Ser361Asn) c.1052G>A (p.Ser351Asn) c.926G>A (p.Ser309Asn) c.*384G>A (n.*384G>A) | |
16 | g.27362701G>C | CA395298674 | IL4R | c.1349G>C (p.Ser450Thr) c.1304G>C (p.Ser435Thr) c.230-1402G>C (n.230-1402G>C) c.*1392G>C (n.*1392G>C) c.869G>C (p.Ser290Thr) c.458G>C (p.Ser153Thr) c.398G>C (p.Ser133Thr) c.1082G>C (p.Ser361Thr) c.1052G>C (p.Ser351Thr) c.926G>C (p.Ser309Thr) c.*384G>C (n.*384G>C) | dbSNP |
16 | g.27362701G= | CA2215169648 | IL4R | c.1349G= (p.Ser450=) c.1304G= (p.Ser435=) c.230-1402G= (n.230-1402G=) c.*1392G= (n.*1392G=) c.869G= (p.Ser290=) c.458G= (p.Ser153=) c.398G= (p.Ser133=) c.1082G= (p.Ser361=) c.1052G= (p.Ser351=) c.926G= (p.Ser309=) c.*384G= (n.*384G=) | |
16 | g.27362701G>T | CA395298673 | IL4R | c.1349G>T (p.Ser450Ile) c.1304G>T (p.Ser435Ile) c.230-1402G>T (n.230-1402G>T) c.*1392G>T (n.*1392G>T) c.869G>T (p.Ser290Ile) c.458G>T (p.Ser153Ile) c.398G>T (p.Ser133Ile) c.1082G>T (p.Ser361Ile) c.1052G>T (p.Ser351Ile) c.926G>T (p.Ser309Ile) c.*384G>T (n.*384G>T) | |
16 | g.27362702T>A | CA395298678 | IL4R | c.1350T>A (p.Ser450Arg) c.1305T>A (p.Ser435Arg) c.230-1401T>A (n.230-1401T>A) c.*1393T>A (n.*1393T>A) c.870T>A (p.Ser290Arg) c.459T>A (p.Ser153Arg) c.399T>A (p.Ser133Arg) c.1083T>A (p.Ser361Arg) c.1053T>A (p.Ser351Arg) c.927T>A (p.Ser309Arg) c.*385T>A (n.*385T>A) | |
16 | g.27362702T>C | CA494470551 | IL4R | c.1350T>C (p.Ser450=) c.1305T>C (p.Ser435=) c.230-1401T>C (n.230-1401T>C) c.*1393T>C (n.*1393T>C) c.870T>C (p.Ser290=) c.459T>C (p.Ser153=) c.399T>C (p.Ser133=) c.1083T>C (p.Ser361=) c.1053T>C (p.Ser351=) c.927T>C (p.Ser309=) c.*385T>C (n.*385T>C) | dbSNP |
16 | g.27362702T>G | CA395298679 | IL4R | c.1350T>G (p.Ser450Arg) c.1305T>G (p.Ser435Arg) c.230-1401T>G (n.230-1401T>G) c.*1393T>G (n.*1393T>G) c.870T>G (p.Ser290Arg) c.459T>G (p.Ser153Arg) c.399T>G (p.Ser133Arg) c.1083T>G (p.Ser361Arg) c.1053T>G (p.Ser351Arg) c.927T>G (p.Ser309Arg) c.*385T>G (n.*385T>G) | |
16 | g.27362702T= | CA2215169650 | IL4R | c.1350T= (p.Ser450=) c.1305T= (p.Ser435=) c.230-1401T= (n.230-1401T=) c.*1393T= (n.*1393T=) c.870T= (p.Ser290=) c.459T= (p.Ser153=) c.399T= (p.Ser133=) c.1083T= (p.Ser361=) c.1053T= (p.Ser351=) c.927T= (p.Ser309=) c.*385T= (n.*385T=) | |
16 | g.27362703G>A | CA395298683 | IL4R | c.1351G>A (p.Ala451Thr) c.1306G>A (p.Ala436Thr) c.230-1400G>A (n.230-1400G>A) c.*1394G>A (n.*1394G>A) c.871G>A (p.Ala291Thr) c.460G>A (p.Ala154Thr) c.400G>A (p.Ala134Thr) c.1084G>A (p.Ala362Thr) c.1054G>A (p.Ala352Thr) c.928G>A (p.Ala310Thr) c.*386G>A (n.*386G>A) | |
16 | g.27362703G>C | CA395298686 | IL4R | c.1351G>C (p.Ala451Pro) c.1306G>C (p.Ala436Pro) c.230-1400G>C (n.230-1400G>C) c.*1394G>C (n.*1394G>C) c.871G>C (p.Ala291Pro) c.460G>C (p.Ala154Pro) c.400G>C (p.Ala134Pro) c.1084G>C (p.Ala362Pro) c.1054G>C (p.Ala352Pro) c.928G>C (p.Ala310Pro) c.*386G>C (n.*386G>C) | |
16 | g.27362703G>T | CA395298688 | IL4R | c.1351G>T (p.Ala451Ser) c.1306G>T (p.Ala436Ser) c.230-1400G>T (n.230-1400G>T) c.*1394G>T (n.*1394G>T) c.871G>T (p.Ala291Ser) c.460G>T (p.Ala154Ser) c.400G>T (p.Ala134Ser) c.1084G>T (p.Ala362Ser) c.1054G>T (p.Ala352Ser) c.928G>T (p.Ala310Ser) c.*386G>T (n.*386G>T) | |
16 | g.27362704C>A | CA395298690 | IL4R | c.1352C>A (p.Ala451Glu) c.1307C>A (p.Ala436Glu) c.230-1399C>A (n.230-1399C>A) c.*1395C>A (n.*1395C>A) c.872C>A (p.Ala291Glu) c.461C>A (p.Ala154Glu) c.401C>A (p.Ala134Glu) c.1085C>A (p.Ala362Glu) c.1055C>A (p.Ala352Glu) c.929C>A (p.Ala310Glu) c.*387C>A (n.*387C>A) | |
16 | g.27362704C>G | CA395298692 | IL4R | c.1352C>G (p.Ala451Gly) c.1307C>G (p.Ala436Gly) c.230-1399C>G (n.230-1399C>G) c.*1395C>G (n.*1395C>G) c.872C>G (p.Ala291Gly) c.461C>G (p.Ala154Gly) c.401C>G (p.Ala134Gly) c.1085C>G (p.Ala362Gly) c.1055C>G (p.Ala352Gly) c.929C>G (p.Ala310Gly) c.*387C>G (n.*387C>G) | |
16 | g.27362704C>T | CA395298694 | IL4R | c.1352C>T (p.Ala451Val) c.1307C>T (p.Ala436Val) c.230-1399C>T (n.230-1399C>T) c.*1395C>T (n.*1395C>T) c.872C>T (p.Ala291Val) c.461C>T (p.Ala154Val) c.401C>T (p.Ala134Val) c.1085C>T (p.Ala362Val) c.1055C>T (p.Ala352Val) c.929C>T (p.Ala310Val) c.*387C>T (n.*387C>T) | |
16 | g.27362705A= | CA2215169653 | IL4R | c.1353A= (p.Ala451=) c.1308A= (p.Ala436=) c.230-1398A= (n.230-1398A=) c.*1396A= (n.*1396A=) c.873A= (p.Ala291=) c.462A= (p.Ala154=) c.402A= (p.Ala134=) c.1086A= (p.Ala362=) c.1056A= (p.Ala352=) c.930A= (p.Ala310=) c.*388A= (n.*388A=) | |
16 | g.27362705A>C | CA494470552 | IL4R | c.1353A>C (p.Ala451=) c.1308A>C (p.Ala436=) c.230-1398A>C (n.230-1398A>C) c.*1396A>C (n.*1396A>C) c.873A>C (p.Ala291=) c.462A>C (p.Ala154=) c.402A>C (p.Ala134=) c.1086A>C (p.Ala362=) c.1056A>C (p.Ala352=) c.930A>C (p.Ala310=) c.*388A>C (n.*388A>C) | dbSNP |
16 | g.27362705A>G | CA494470553 | IL4R | c.1353A>G (p.Ala451=) c.1308A>G (p.Ala436=) c.230-1398A>G (n.230-1398A>G) c.*1396A>G (n.*1396A>G) c.873A>G (p.Ala291=) c.462A>G (p.Ala154=) c.402A>G (p.Ala134=) c.1086A>G (p.Ala362=) c.1056A>G (p.Ala352=) c.930A>G (p.Ala310=) c.*388A>G (n.*388A>G) | |
16 | g.27362705A>T | CA494470554 | IL4R | c.1353A>T (p.Ala451=) c.1308A>T (p.Ala436=) c.230-1398A>T (n.230-1398A>T) c.*1396A>T (n.*1396A>T) c.873A>T (p.Ala291=) c.462A>T (p.Ala154=) c.402A>T (p.Ala134=) c.1086A>T (p.Ala362=) c.1056A>T (p.Ala352=) c.930A>T (p.Ala310=) c.*388A>T (n.*388A>T) | |
16 | g.27362706G>A | CA395298696 | IL4R | c.1354G>A (p.Gly452Arg) c.1309G>A (p.Gly437Arg) c.230-1397G>A (n.230-1397G>A) c.*1397G>A (n.*1397G>A) c.874G>A (p.Gly292Arg) c.463G>A (p.Gly155Arg) c.403G>A (p.Gly135Arg) c.1087G>A (p.Gly363Arg) c.1057G>A (p.Gly353Arg) c.931G>A (p.Gly311Arg) c.*389G>A (n.*389G>A) | gnomAD v4 |
16 | g.27362706G>C | CA395298700 | IL4R | c.1354G>C (p.Gly452Arg) c.1309G>C (p.Gly437Arg) c.230-1397G>C (n.230-1397G>C) c.*1397G>C (n.*1397G>C) c.874G>C (p.Gly292Arg) c.463G>C (p.Gly155Arg) c.403G>C (p.Gly135Arg) c.1087G>C (p.Gly363Arg) c.1057G>C (p.Gly353Arg) c.931G>C (p.Gly311Arg) c.*389G>C (n.*389G>C) | |
16 | g.27362706G>T | CA395298698 | IL4R | c.1354G>T (p.Gly452Trp) c.1309G>T (p.Gly437Trp) c.230-1397G>T (n.230-1397G>T) c.*1397G>T (n.*1397G>T) c.874G>T (p.Gly292Trp) c.463G>T (p.Gly155Trp) c.403G>T (p.Gly135Trp) c.1087G>T (p.Gly363Trp) c.1057G>T (p.Gly353Trp) c.931G>T (p.Gly311Trp) c.*389G>T (n.*389G>T) | |
16 | g.27362707G>A | CA395298703 | IL4R | c.1355G>A (p.Gly452Glu) c.1310G>A (p.Gly437Glu) c.230-1396G>A (n.230-1396G>A) c.*1398G>A (n.*1398G>A) c.875G>A (p.Gly292Glu) c.464G>A (p.Gly155Glu) c.404G>A (p.Gly135Glu) c.1088G>A (p.Gly363Glu) c.1058G>A (p.Gly353Glu) c.932G>A (p.Gly311Glu) c.*390G>A (n.*390G>A) | |
16 | g.27362707G>C | CA395298705 | IL4R | c.1355G>C (p.Gly452Ala) c.1310G>C (p.Gly437Ala) c.230-1396G>C (n.230-1396G>C) c.*1398G>C (n.*1398G>C) c.875G>C (p.Gly292Ala) c.464G>C (p.Gly155Ala) c.404G>C (p.Gly135Ala) c.1088G>C (p.Gly363Ala) c.1058G>C (p.Gly353Ala) c.932G>C (p.Gly311Ala) c.*390G>C (n.*390G>C) | |
16 | g.27362707G>T | CA395298708 | IL4R | c.1355G>T (p.Gly452Val) c.1310G>T (p.Gly437Val) c.230-1396G>T (n.230-1396G>T) c.*1398G>T (n.*1398G>T) c.875G>T (p.Gly292Val) c.464G>T (p.Gly155Val) c.404G>T (p.Gly135Val) c.1088G>T (p.Gly363Val) c.1058G>T (p.Gly353Val) c.932G>T (p.Gly311Val) c.*390G>T (n.*390G>T) | |
16 | g.27362708G>A | CA7974545 | IL4R | c.1356G>A (p.Gly452=) c.1311G>A (p.Gly437=) c.230-1395G>A (n.230-1395G>A) c.*1399G>A (n.*1399G>A) c.876G>A (p.Gly292=) c.465G>A (p.Gly155=) c.405G>A (p.Gly135=) c.1089G>A (p.Gly363=) c.1059G>A (p.Gly353=) c.933G>A (p.Gly311=) c.*391G>A (n.*391G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362708G>C | CA494470555 | IL4R | c.1356G>C (p.Gly452=) c.1311G>C (p.Gly437=) c.230-1395G>C (n.230-1395G>C) c.*1399G>C (n.*1399G>C) c.876G>C (p.Gly292=) c.465G>C (p.Gly155=) c.405G>C (p.Gly135=) c.1089G>C (p.Gly363=) c.1059G>C (p.Gly353=) c.933G>C (p.Gly311=) c.*391G>C (n.*391G>C) | |
16 | g.27362708G= | CA2215169654 | IL4R | c.1356G= (p.Gly452=) c.1311G= (p.Gly437=) c.230-1395G= (n.230-1395G=) c.*1399G= (n.*1399G=) c.876G= (p.Gly292=) c.465G= (p.Gly155=) c.405G= (p.Gly135=) c.1089G= (p.Gly363=) c.1059G= (p.Gly353=) c.933G= (p.Gly311=) c.*391G= (n.*391G=) | |
16 | g.27362708G>T | CA494470556 | IL4R | c.1356G>T (p.Gly452=) c.1311G>T (p.Gly437=) c.230-1395G>T (n.230-1395G>T) c.*1399G>T (n.*1399G>T) c.876G>T (p.Gly292=) c.465G>T (p.Gly155=) c.405G>T (p.Gly135=) c.1089G>T (p.Gly363=) c.1059G>T (p.Gly353=) c.933G>T (p.Gly311=) c.*391G>T (n.*391G>T) | |
16 | g.27362709C>A | CA279686712 | IL4R | c.1357C>A (p.Pro453Thr) c.1312C>A (p.Pro438Thr) c.230-1394C>A (n.230-1394C>A) c.*1400C>A (n.*1400C>A) c.877C>A (p.Pro293Thr) c.466C>A (p.Pro156Thr) c.406C>A (p.Pro136Thr) c.1090C>A (p.Pro364Thr) c.1060C>A (p.Pro354Thr) c.934C>A (p.Pro312Thr) c.*392C>A (n.*392C>A) | dbSNP |
16 | g.27362709C= | CA2215169660 | IL4R | c.1357C= (p.Pro453=) c.1312C= (p.Pro438=) c.230-1394C= (n.230-1394C=) c.*1400C= (n.*1400C=) c.877C= (p.Pro293=) c.466C= (p.Pro156=) c.406C= (p.Pro136=) c.1090C= (p.Pro364=) c.1060C= (p.Pro354=) c.934C= (p.Pro312=) c.*392C= (n.*392C=) | |
16 | g.27362709C>G | CA395298716 | IL4R | c.1357C>G (p.Pro453Ala) c.1312C>G (p.Pro438Ala) c.230-1394C>G (n.230-1394C>G) c.*1400C>G (n.*1400C>G) c.877C>G (p.Pro293Ala) c.466C>G (p.Pro156Ala) c.406C>G (p.Pro136Ala) c.1090C>G (p.Pro364Ala) c.1060C>G (p.Pro354Ala) c.934C>G (p.Pro312Ala) c.*392C>G (n.*392C>G) | |
16 | g.27362709C>T | CA395298714 | IL4R | c.1357C>T (p.Pro453Ser) c.1312C>T (p.Pro438Ser) c.230-1394C>T (n.230-1394C>T) c.*1400C>T (n.*1400C>T) c.877C>T (p.Pro293Ser) c.466C>T (p.Pro156Ser) c.406C>T (p.Pro136Ser) c.1090C>T (p.Pro364Ser) c.1060C>T (p.Pro354Ser) c.934C>T (p.Pro312Ser) c.*392C>T (n.*392C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362710C>A | CA395298720 | IL4R | c.1358C>A (p.Pro453His) c.1313C>A (p.Pro438His) c.230-1393C>A (n.230-1393C>A) c.*1401C>A (n.*1401C>A) c.878C>A (p.Pro293His) c.467C>A (p.Pro156His) c.407C>A (p.Pro136His) c.1091C>A (p.Pro364His) c.1061C>A (p.Pro354His) c.935C>A (p.Pro312His) c.*393C>A (n.*393C>A) | |
16 | g.27362710C>G | CA395298722 | IL4R | c.1358C>G (p.Pro453Arg) c.1313C>G (p.Pro438Arg) c.230-1393C>G (n.230-1393C>G) c.*1401C>G (n.*1401C>G) c.878C>G (p.Pro293Arg) c.467C>G (p.Pro156Arg) c.407C>G (p.Pro136Arg) c.1091C>G (p.Pro364Arg) c.1061C>G (p.Pro354Arg) c.935C>G (p.Pro312Arg) c.*393C>G (n.*393C>G) | |
16 | g.27362710C>T | CA395298724 | IL4R | c.1358C>T (p.Pro453Leu) c.1313C>T (p.Pro438Leu) c.230-1393C>T (n.230-1393C>T) c.*1401C>T (n.*1401C>T) c.878C>T (p.Pro293Leu) c.467C>T (p.Pro156Leu) c.407C>T (p.Pro136Leu) c.1091C>T (p.Pro364Leu) c.1061C>T (p.Pro354Leu) c.935C>T (p.Pro312Leu) c.*393C>T (n.*393C>T) | dbSNP gnomAD v4 |
16 | g.27362711C>A | CA494470557 | IL4R | c.1359C>A (p.Pro453=) c.1314C>A (p.Pro438=) c.230-1392C>A (n.230-1392C>A) c.*1402C>A (n.*1402C>A) c.879C>A (p.Pro293=) c.468C>A (p.Pro156=) c.408C>A (p.Pro136=) c.1092C>A (p.Pro364=) c.1062C>A (p.Pro354=) c.936C>A (p.Pro312=) c.*394C>A (n.*394C>A) | |
16 | g.27362711C= | CA2215169662 | IL4R | c.1359C= (p.Pro453=) c.1314C= (p.Pro438=) c.230-1392C= (n.230-1392C=) c.*1402C= (n.*1402C=) c.879C= (p.Pro293=) c.468C= (p.Pro156=) c.408C= (p.Pro136=) c.1092C= (p.Pro364=) c.1062C= (p.Pro354=) c.936C= (p.Pro312=) c.*394C= (n.*394C=) | |
16 | g.27362711C>G | CA494470558 | IL4R | c.1359C>G (p.Pro453=) c.1314C>G (p.Pro438=) c.230-1392C>G (n.230-1392C>G) c.*1402C>G (n.*1402C>G) c.879C>G (p.Pro293=) c.468C>G (p.Pro156=) c.408C>G (p.Pro136=) c.1092C>G (p.Pro364=) c.1062C>G (p.Pro354=) c.936C>G (p.Pro312=) c.*394C>G (n.*394C>G) | |
16 | g.27362711C>T | CA494470559 | IL4R | c.1359C>T (p.Pro453=) c.1314C>T (p.Pro438=) c.230-1392C>T (n.230-1392C>T) c.*1402C>T (n.*1402C>T) c.879C>T (p.Pro293=) c.468C>T (p.Pro156=) c.408C>T (p.Pro136=) c.1092C>T (p.Pro364=) c.1062C>T (p.Pro354=) c.936C>T (p.Pro312=) c.*394C>T (n.*394C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362711_27362712delinsCA | CA2215169661 | IL4R | c.1359_1360delinsCA (p.Pro453=) c.1314_1315delinsCA (p.Pro438=) c.230-1392_230-1391delinsCA (n.230-1392_230-1391delinsCA) c.*1402_*1403delinsCA (n.*1402_*1403delinsCA) c.879_880delinsCA (p.Pro293=) c.468_469delinsCA (p.Pro156=) c.408_409delinsCA (p.Pro136=) c.1092_1093delinsCA (p.Pro364=) c.1062_1063delinsCA (p.Pro354=) c.936_937delinsCA (p.Pro312=) c.*394_*395delinsCA (n.*394_*395delinsCA) | |
16 | g.27362712A= | CA2215169668 | IL4R | c.1360A= (p.Lys454=) c.1315A= (p.Lys439=) c.230-1391A= (n.230-1391A=) c.*1403A= (n.*1403A=) c.880A= (p.Lys294=) c.469A= (p.Lys157=) c.409A= (p.Lys137=) c.1093A= (p.Lys365=) c.1063A= (p.Lys355=) c.937A= (p.Lys313=) c.*395A= (n.*395A=) | |
16 | g.27362712A>C | CA395298727 | IL4R | c.1360A>C (p.Lys454Gln) c.1315A>C (p.Lys439Gln) c.230-1391A>C (n.230-1391A>C) c.*1403A>C (n.*1403A>C) c.880A>C (p.Lys294Gln) c.469A>C (p.Lys157Gln) c.409A>C (p.Lys137Gln) c.1093A>C (p.Lys365Gln) c.1063A>C (p.Lys355Gln) c.937A>C (p.Lys313Gln) c.*395A>C (n.*395A>C) | |
16 | g.27362712A>G | CA279686734 | IL4R | c.1360A>G (p.Lys454Glu) c.1315A>G (p.Lys439Glu) c.230-1391A>G (n.230-1391A>G) c.*1403A>G (n.*1403A>G) c.880A>G (p.Lys294Glu) c.469A>G (p.Lys157Glu) c.409A>G (p.Lys137Glu) c.1093A>G (p.Lys365Glu) c.1063A>G (p.Lys355Glu) c.937A>G (p.Lys313Glu) c.*395A>G (n.*395A>G) | dbSNP gnomAD v4 |
16 | g.27362712A>T | CA395298728 | IL4R | c.1360A>T (p.Lys454Ter) c.1315A>T (p.Lys439Ter) c.230-1391A>T (n.230-1391A>T) c.*1403A>T (n.*1403A>T) c.880A>T (p.Lys294Ter) c.469A>T (p.Lys157Ter) c.409A>T (p.Lys137Ter) c.1093A>T (p.Lys365Ter) c.1063A>T (p.Lys355Ter) c.937A>T (p.Lys313Ter) c.*395A>T (n.*395A>T) | |
16 | g.27362713del | CA2215169667 | IL4R | c.1361del (p.Lys454ArgfsTer29) c.1316del (p.Lys439ArgfsTer29) c.230-1390del (n.230-1390del) c.*1404del (n.*1404del) c.881del (p.Lys294ArgfsTer29) c.470del (p.Lys157ArgfsTer29) c.410del (p.Lys137ArgfsTer29) c.1094del (p.Lys365ArgfsTer29) c.1064del (p.Lys355ArgfsTer29) c.938del (p.Lys313ArgfsTer29) c.*396del (n.*396del) | dbSNP |