Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.27362818T>A | CA395298952 | IL4R | c.1466T>A (p.Leu489His) c.1421T>A (p.Leu474His) c.230-1285T>A (n.230-1285T>A) c.*1509T>A (n.*1509T>A) c.986T>A (p.Leu329His) c.575T>A (p.Leu192His) c.515T>A (p.Leu172His) c.1199T>A (p.Leu400His) c.1169T>A (p.Leu390His) c.1043T>A (p.Leu348His) c.*501T>A (n.*501T>A) | |
16 | g.27362818T>C | CA395298954 | IL4R | c.1466T>C (p.Leu489Pro) c.1421T>C (p.Leu474Pro) c.230-1285T>C (n.230-1285T>C) c.*1509T>C (n.*1509T>C) c.986T>C (p.Leu329Pro) c.575T>C (p.Leu192Pro) c.515T>C (p.Leu172Pro) c.1199T>C (p.Leu400Pro) c.1169T>C (p.Leu390Pro) c.1043T>C (p.Leu348Pro) c.*501T>C (n.*501T>C) | |
16 | g.27362818T>G | CA395298953 | IL4R | c.1466T>G (p.Leu489Arg) c.1421T>G (p.Leu474Arg) c.230-1285T>G (n.230-1285T>G) c.*1509T>G (n.*1509T>G) c.986T>G (p.Leu329Arg) c.575T>G (p.Leu192Arg) c.515T>G (p.Leu172Arg) c.1199T>G (p.Leu400Arg) c.1169T>G (p.Leu390Arg) c.1043T>G (p.Leu348Arg) c.*501T>G (n.*501T>G) | |
16 | g.27362819C>A | CA494470147 | IL4R | c.1467C>A (p.Leu489=) c.1422C>A (p.Leu474=) c.230-1284C>A (n.230-1284C>A) c.*1510C>A (n.*1510C>A) c.987C>A (p.Leu329=) c.576C>A (p.Leu192=) c.516C>A (p.Leu172=) c.1200C>A (p.Leu400=) c.1170C>A (p.Leu390=) c.1044C>A (p.Leu348=) c.*502C>A (n.*502C>A) | |
16 | g.27362819C= | CA2215169820 | IL4R | c.1467C= (p.Leu489=) c.1422C= (p.Leu474=) c.230-1284C= (n.230-1284C=) c.*1510C= (n.*1510C=) c.987C= (p.Leu329=) c.576C= (p.Leu192=) c.516C= (p.Leu172=) c.1200C= (p.Leu400=) c.1170C= (p.Leu390=) c.1044C= (p.Leu348=) c.*502C= (n.*502C=) | |
16 | g.27362819C>G | CA494470148 | IL4R | c.1467C>G (p.Leu489=) c.1422C>G (p.Leu474=) c.230-1284C>G (n.230-1284C>G) c.*1510C>G (n.*1510C>G) c.987C>G (p.Leu329=) c.576C>G (p.Leu192=) c.516C>G (p.Leu172=) c.1200C>G (p.Leu400=) c.1170C>G (p.Leu390=) c.1044C>G (p.Leu348=) c.*502C>G (n.*502C>G) | gnomAD v4 |
16 | g.27362819C>T | CA7974569 | IL4R | c.1467C>T (p.Leu489=) c.1422C>T (p.Leu474=) c.230-1284C>T (n.230-1284C>T) c.*1510C>T (n.*1510C>T) c.987C>T (p.Leu329=) c.576C>T (p.Leu192=) c.516C>T (p.Leu172=) c.1200C>T (p.Leu400=) c.1170C>T (p.Leu390=) c.1044C>T (p.Leu348=) c.*502C>T (n.*502C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362820G>A | CA7974570 | IL4R | c.1468G>A (p.Val490Ile) c.1423G>A (p.Val475Ile) c.230-1283G>A (n.230-1283G>A) c.*1511G>A (n.*1511G>A) c.988G>A (p.Val330Ile) c.577G>A (p.Val193Ile) c.517G>A (p.Val173Ile) c.1201G>A (p.Val401Ile) c.1171G>A (p.Val391Ile) c.1045G>A (p.Val349Ile) c.*503G>A (n.*503G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.27362820G>C | CA395298955 | IL4R | c.1468G>C (p.Val490Leu) c.1423G>C (p.Val475Leu) c.230-1283G>C (n.230-1283G>C) c.*1511G>C (n.*1511G>C) c.988G>C (p.Val330Leu) c.577G>C (p.Val193Leu) c.517G>C (p.Val173Leu) c.1201G>C (p.Val401Leu) c.1171G>C (p.Val391Leu) c.1045G>C (p.Val349Leu) c.*503G>C (n.*503G>C) | gnomAD v4 |
16 | g.27362820G= | CA2215169821 | IL4R | c.1468G= (p.Val490=) c.1423G= (p.Val475=) c.230-1283G= (n.230-1283G=) c.*1511G= (n.*1511G=) c.988G= (p.Val330=) c.577G= (p.Val193=) c.517G= (p.Val173=) c.1201G= (p.Val401=) c.1171G= (p.Val391=) c.1045G= (p.Val349=) c.*503G= (n.*503G=) | |
16 | g.27362820G>T | CA395298956 | IL4R | c.1468G>T (p.Val490Phe) c.1423G>T (p.Val475Phe) c.230-1283G>T (n.230-1283G>T) c.*1511G>T (n.*1511G>T) c.988G>T (p.Val330Phe) c.577G>T (p.Val193Phe) c.517G>T (p.Val173Phe) c.1201G>T (p.Val401Phe) c.1171G>T (p.Val391Phe) c.1045G>T (p.Val349Phe) c.*503G>T (n.*503G>T) | |
16 | g.27362821T>A | CA395298957 | IL4R | c.1469T>A (p.Val490Asp) c.1424T>A (p.Val475Asp) c.230-1282T>A (n.230-1282T>A) c.*1512T>A (n.*1512T>A) c.989T>A (p.Val330Asp) c.578T>A (p.Val193Asp) c.518T>A (p.Val173Asp) c.1202T>A (p.Val401Asp) c.1172T>A (p.Val391Asp) c.1046T>A (p.Val349Asp) c.*504T>A (n.*504T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362821T>C | CA395298958 | IL4R | c.1469T>C (p.Val490Ala) c.1424T>C (p.Val475Ala) c.230-1282T>C (n.230-1282T>C) c.*1512T>C (n.*1512T>C) c.989T>C (p.Val330Ala) c.578T>C (p.Val193Ala) c.518T>C (p.Val173Ala) c.1202T>C (p.Val401Ala) c.1172T>C (p.Val391Ala) c.1046T>C (p.Val349Ala) c.*504T>C (n.*504T>C) | |
16 | g.27362821T>G | CA395298959 | IL4R | c.1469T>G (p.Val490Gly) c.1424T>G (p.Val475Gly) c.230-1282T>G (n.230-1282T>G) c.*1512T>G (n.*1512T>G) c.989T>G (p.Val330Gly) c.578T>G (p.Val193Gly) c.518T>G (p.Val173Gly) c.1202T>G (p.Val401Gly) c.1172T>G (p.Val391Gly) c.1046T>G (p.Val349Gly) c.*504T>G (n.*504T>G) | |
16 | g.27362821T= | CA2215169826 | IL4R | c.1469T= (p.Val490=) c.1424T= (p.Val475=) c.230-1282T= (n.230-1282T=) c.*1512T= (n.*1512T=) c.989T= (p.Val330=) c.578T= (p.Val193=) c.518T= (p.Val173=) c.1202T= (p.Val401=) c.1172T= (p.Val391=) c.1046T= (p.Val349=) c.*504T= (n.*504T=) | |
16 | g.27362822C>A | CA494470151 | IL4R | c.1470C>A (p.Val490=) c.1425C>A (p.Val475=) c.230-1281C>A (n.230-1281C>A) c.*1513C>A (n.*1513C>A) c.990C>A (p.Val330=) c.579C>A (p.Val193=) c.519C>A (p.Val173=) c.1203C>A (p.Val401=) c.1173C>A (p.Val391=) c.1047C>A (p.Val349=) c.*505C>A (n.*505C>A) | |
16 | g.27362822C= | CA2215169828 | IL4R | c.1470C= (p.Val490=) c.1425C= (p.Val475=) c.230-1281C= (n.230-1281C=) c.*1513C= (n.*1513C=) c.990C= (p.Val330=) c.579C= (p.Val193=) c.519C= (p.Val173=) c.1203C= (p.Val401=) c.1173C= (p.Val391=) c.1047C= (p.Val349=) c.*505C= (n.*505C=) | |
16 | g.27362822C>G | CA494470150 | IL4R | c.1470C>G (p.Val490=) c.1425C>G (p.Val475=) c.230-1281C>G (n.230-1281C>G) c.*1513C>G (n.*1513C>G) c.990C>G (p.Val330=) c.579C>G (p.Val193=) c.519C>G (p.Val173=) c.1203C>G (p.Val401=) c.1173C>G (p.Val391=) c.1047C>G (p.Val349=) c.*505C>G (n.*505C>G) | |
16 | g.27362822C>T | CA494470149 | IL4R | c.1470C>T (p.Val490=) c.1425C>T (p.Val475=) c.230-1281C>T (n.230-1281C>T) c.*1513C>T (n.*1513C>T) c.990C>T (p.Val330=) c.579C>T (p.Val193=) c.519C>T (p.Val173=) c.1203C>T (p.Val401=) c.1173C>T (p.Val391=) c.1047C>T (p.Val349=) c.*505C>T (n.*505C>T) | dbSNP gnomAD v4 COSMIC |
16 | g.27362823A>C | CA395298960 | IL4R | c.1471A>C (p.Ile491Leu) c.1426A>C (p.Ile476Leu) c.230-1280A>C (n.230-1280A>C) c.*1514A>C (n.*1514A>C) c.991A>C (p.Ile331Leu) c.580A>C (p.Ile194Leu) c.520A>C (p.Ile174Leu) c.1204A>C (p.Ile402Leu) c.1174A>C (p.Ile392Leu) c.1048A>C (p.Ile350Leu) c.*506A>C (n.*506A>C) | |
16 | g.27362823A>G | CA395298961 | IL4R | c.1471A>G (p.Ile491Val) c.1426A>G (p.Ile476Val) c.230-1280A>G (n.230-1280A>G) c.*1514A>G (n.*1514A>G) c.991A>G (p.Ile331Val) c.580A>G (p.Ile194Val) c.520A>G (p.Ile174Val) c.1204A>G (p.Ile402Val) c.1174A>G (p.Ile392Val) c.1048A>G (p.Ile350Val) c.*506A>G (n.*506A>G) | |
16 | g.27362823A>T | CA395298962 | IL4R | c.1471A>T (p.Ile491Phe) c.1426A>T (p.Ile476Phe) c.230-1280A>T (n.230-1280A>T) c.*1514A>T (n.*1514A>T) c.991A>T (p.Ile331Phe) c.580A>T (p.Ile194Phe) c.520A>T (p.Ile174Phe) c.1204A>T (p.Ile402Phe) c.1174A>T (p.Ile392Phe) c.1048A>T (p.Ile350Phe) c.*506A>T (n.*506A>T) | |
16 | g.27362824T>A | CA395298964 | IL4R | c.1472T>A (p.Ile491Asn) c.1427T>A (p.Ile476Asn) c.230-1279T>A (n.230-1279T>A) c.*1515T>A (n.*1515T>A) c.992T>A (p.Ile331Asn) c.581T>A (p.Ile194Asn) c.521T>A (p.Ile174Asn) c.1205T>A (p.Ile402Asn) c.1175T>A (p.Ile392Asn) c.1049T>A (p.Ile350Asn) c.*507T>A (n.*507T>A) | |
16 | g.27362824T>C | CA395298965 | IL4R | c.1472T>C (p.Ile491Thr) c.1427T>C (p.Ile476Thr) c.230-1279T>C (n.230-1279T>C) c.*1515T>C (n.*1515T>C) c.992T>C (p.Ile331Thr) c.581T>C (p.Ile194Thr) c.521T>C (p.Ile174Thr) c.1205T>C (p.Ile402Thr) c.1175T>C (p.Ile392Thr) c.1049T>C (p.Ile350Thr) c.*507T>C (n.*507T>C) | |
16 | g.27362824T>G | CA395298963 | IL4R | c.1472T>G (p.Ile491Ser) c.1427T>G (p.Ile476Ser) c.230-1279T>G (n.230-1279T>G) c.*1515T>G (n.*1515T>G) c.992T>G (p.Ile331Ser) c.581T>G (p.Ile194Ser) c.521T>G (p.Ile174Ser) c.1205T>G (p.Ile402Ser) c.1175T>G (p.Ile392Ser) c.1049T>G (p.Ile350Ser) c.*507T>G (n.*507T>G) | |
16 | g.27362825C>A | CA494470152 | IL4R | c.1473C>A (p.Ile491=) c.1428C>A (p.Ile476=) c.230-1278C>A (n.230-1278C>A) c.*1516C>A (n.*1516C>A) c.993C>A (p.Ile331=) c.582C>A (p.Ile194=) c.522C>A (p.Ile174=) c.1206C>A (p.Ile402=) c.1176C>A (p.Ile392=) c.1050C>A (p.Ile350=) c.*508C>A (n.*508C>A) | |
16 | g.27362825C= | CA2215169829 | IL4R | c.1473C= (p.Ile491=) c.1428C= (p.Ile476=) c.230-1278C= (n.230-1278C=) c.*1516C= (n.*1516C=) c.993C= (p.Ile331=) c.582C= (p.Ile194=) c.522C= (p.Ile174=) c.1206C= (p.Ile402=) c.1176C= (p.Ile392=) c.1050C= (p.Ile350=) c.*508C= (n.*508C=) | |
16 | g.27362825C>G | CA395298966 | IL4R | c.1473C>G (p.Ile491Met) c.1428C>G (p.Ile476Met) c.230-1278C>G (n.230-1278C>G) c.*1516C>G (n.*1516C>G) c.993C>G (p.Ile331Met) c.582C>G (p.Ile194Met) c.522C>G (p.Ile174Met) c.1206C>G (p.Ile402Met) c.1176C>G (p.Ile392Met) c.1050C>G (p.Ile350Met) c.*508C>G (n.*508C>G) | |
16 | g.27362825C>T | CA7974571 | IL4R | c.1473C>T (p.Ile491=) c.1428C>T (p.Ile476=) c.230-1278C>T (n.230-1278C>T) c.*1516C>T (n.*1516C>T) c.993C>T (p.Ile331=) c.582C>T (p.Ile194=) c.522C>T (p.Ile174=) c.1206C>T (p.Ile402=) c.1176C>T (p.Ile392=) c.1050C>T (p.Ile350=) c.*508C>T (n.*508C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362825_27362826delinsCG | CA2215169831 | IL4R | c.1473_1474delinsCG (p.Ile491=) c.1428_1429delinsCG (p.Ile476=) c.230-1278_230-1277delinsCG (n.230-1278_230-1277delinsCG) c.*1516_*1517delinsCG (n.*1516_*1517delinsCG) c.993_994delinsCG (p.Ile331=) c.582_583delinsCG (p.Ile194=) c.522_523delinsCG (p.Ile174=) c.1206_1207delinsCG (p.Ile402=) c.1176_1177delinsCG (p.Ile392=) c.1050_1051delinsCG (p.Ile350=) c.*508_*509delinsCG (n.*508_*509delinsCG) | |
16 | g.27362825_27362827delinsCGC | CA2215169830 | IL4R | c.1473_1475delinsCGC (p.Ile491=) c.1428_1430delinsCGC (p.Ile476=) c.230-1278_230-1276delinsCGC (n.230-1278_230-1276delinsCGC) c.*1516_*1518delinsCGC (n.*1516_*1518delinsCGC) c.993_995delinsCGC (p.Ile331=) c.582_584delinsCGC (p.Ile194=) c.522_524delinsCGC (p.Ile174=) c.1206_1208delinsCGC (p.Ile402=) c.1176_1178delinsCGC (p.Ile392=) c.1050_1052delinsCGC (p.Ile350=) c.*508_*510delinsCGC (n.*508_*510delinsCGC) | |
16 | g.27362826del | CA919683178 | IL4R | c.1474del (p.Ala492GlnfsTer13) c.1429del (p.Ala477GlnfsTer13) c.230-1277del (n.230-1277del) c.*1517del (n.*1517del) c.994del (p.Ala332GlnfsTer13) c.583del (p.Ala195GlnfsTer13) c.523del (p.Ala175GlnfsTer13) c.1207del (p.Ala403GlnfsTer13) c.1177del (p.Ala393GlnfsTer13) c.1051del (p.Ala351GlnfsTer13) c.*509del (n.*509del) | dbSNP |
16 | g.27362826G>A | CA7974572 | IL4R | c.1474G>A (p.Ala492Thr) c.1429G>A (p.Ala477Thr) c.230-1277G>A (n.230-1277G>A) c.*1517G>A (n.*1517G>A) c.994G>A (p.Ala332Thr) c.583G>A (p.Ala195Thr) c.523G>A (p.Ala175Thr) c.1207G>A (p.Ala403Thr) c.1177G>A (p.Ala393Thr) c.1051G>A (p.Ala351Thr) c.*509G>A (n.*509G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362826G>C | CA395298967 | IL4R | c.1474G>C (p.Ala492Pro) c.1429G>C (p.Ala477Pro) c.230-1277G>C (n.230-1277G>C) c.*1517G>C (n.*1517G>C) c.994G>C (p.Ala332Pro) c.583G>C (p.Ala195Pro) c.523G>C (p.Ala175Pro) c.1207G>C (p.Ala403Pro) c.1177G>C (p.Ala393Pro) c.1051G>C (p.Ala351Pro) c.*509G>C (n.*509G>C) | |
16 | g.27362826G= | CA2215169840 | IL4R | c.1474G= (p.Ala492=) c.1429G= (p.Ala477=) c.230-1277G= (n.230-1277G=) c.*1517G= (n.*1517G=) c.994G= (p.Ala332=) c.583G= (p.Ala195=) c.523G= (p.Ala175=) c.1207G= (p.Ala403=) c.1177G= (p.Ala393=) c.1051G= (p.Ala351=) c.*509G= (n.*509G=) | |
16 | g.27362826G>T | CA395298968 | IL4R | c.1474G>T (p.Ala492Ser) c.1429G>T (p.Ala477Ser) c.230-1277G>T (n.230-1277G>T) c.*1517G>T (n.*1517G>T) c.994G>T (p.Ala332Ser) c.583G>T (p.Ala195Ser) c.523G>T (p.Ala175Ser) c.1207G>T (p.Ala403Ser) c.1177G>T (p.Ala393Ser) c.1051G>T (p.Ala351Ser) c.*509G>T (n.*509G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362826_27362827delinsA | CA919683179 | IL4R | c.1474_1475delinsA (p.Ala492LysfsTer13) c.1429_1430delinsA (p.Ala477LysfsTer13) c.230-1277_230-1276delinsA (n.230-1277_230-1276delinsA) c.*1517_*1518delinsA (n.*1517_*1518delinsA) c.994_995delinsA (p.Ala332LysfsTer13) c.583_584delinsA (p.Ala195LysfsTer13) c.523_524delinsA (p.Ala175LysfsTer13) c.1207_1208delinsA (p.Ala403LysfsTer13) c.1177_1178delinsA (p.Ala393LysfsTer13) c.1051_1052delinsA (p.Ala351LysfsTer13) c.*509_*510delinsA (n.*509_*510delinsA) | dbSNP |
16 | g.27362826_27362827delinsT | CA919683180 | IL4R | c.1474_1475delinsT (p.Ala492Ter) c.1429_1430delinsT (p.Ala477Ter) c.230-1277_230-1276delinsT (n.230-1277_230-1276delinsT) c.*1517_*1518delinsT (n.*1517_*1518delinsT) c.994_995delinsT (p.Ala332Ter) c.583_584delinsT (p.Ala195Ter) c.523_524delinsT (p.Ala175Ter) c.1207_1208delinsT (p.Ala403Ter) c.1177_1178delinsT (p.Ala393Ter) c.1051_1052delinsT (p.Ala351Ter) c.*509_*510delinsT (n.*509_*510delinsT) | dbSNP |
16 | g.27362826_27362827delinsGC | CA2215169836 | IL4R | c.1474_1475delinsGC (p.Ala492=) c.1429_1430delinsGC (p.Ala477=) c.230-1277_230-1276delinsGC (n.230-1277_230-1276delinsGC) c.*1517_*1518delinsGC (n.*1517_*1518delinsGC) c.994_995delinsGC (p.Ala332=) c.583_584delinsGC (p.Ala195=) c.523_524delinsGC (p.Ala175=) c.1207_1208delinsGC (p.Ala403=) c.1177_1178delinsGC (p.Ala393=) c.1051_1052delinsGC (p.Ala351=) c.*509_*510delinsGC (n.*509_*510delinsGC) | |
16 | g.27362827del | CA919683181 | IL4R | c.1475del (p.Ala492GlufsTer13) c.1430del (p.Ala477GlufsTer13) c.230-1276del (n.230-1276del) c.*1518del (n.*1518del) c.995del (p.Ala332GlufsTer13) c.584del (p.Ala195GlufsTer13) c.524del (p.Ala175GlufsTer13) c.1208del (p.Ala403GlufsTer13) c.1178del (p.Ala393GlufsTer13) c.1052del (p.Ala351GlufsTer13) c.*510del (n.*510del) | dbSNP |
16 | g.27362827C>A | CA395298969 | IL4R | c.1475C>A (p.Ala492Glu) c.1430C>A (p.Ala477Glu) c.230-1276C>A (n.230-1276C>A) c.*1518C>A (n.*1518C>A) c.995C>A (p.Ala332Glu) c.584C>A (p.Ala195Glu) c.524C>A (p.Ala175Glu) c.1208C>A (p.Ala403Glu) c.1178C>A (p.Ala393Glu) c.1052C>A (p.Ala351Glu) c.*510C>A (n.*510C>A) | |
16 | g.27362827C= | CA2215169847 | IL4R | c.1475C= (p.Ala492=) c.1430C= (p.Ala477=) c.230-1276C= (n.230-1276C=) c.*1518C= (n.*1518C=) c.995C= (p.Ala332=) c.584C= (p.Ala195=) c.524C= (p.Ala175=) c.1208C= (p.Ala403=) c.1178C= (p.Ala393=) c.1052C= (p.Ala351=) c.*510C= (n.*510C=) | |
16 | g.27362827C>G | CA395298970 | IL4R | c.1475C>G (p.Ala492Gly) c.1430C>G (p.Ala477Gly) c.230-1276C>G (n.230-1276C>G) c.*1518C>G (n.*1518C>G) c.995C>G (p.Ala332Gly) c.584C>G (p.Ala195Gly) c.524C>G (p.Ala175Gly) c.1208C>G (p.Ala403Gly) c.1178C>G (p.Ala393Gly) c.1052C>G (p.Ala351Gly) c.*510C>G (n.*510C>G) | |
16 | g.27362827C>T | CA7974573 | IL4R | c.1475C>T (p.Ala492Val) c.1430C>T (p.Ala477Val) c.230-1276C>T (n.230-1276C>T) c.*1518C>T (n.*1518C>T) c.995C>T (p.Ala332Val) c.584C>T (p.Ala195Val) c.524C>T (p.Ala175Val) c.1208C>T (p.Ala403Val) c.1178C>T (p.Ala393Val) c.1052C>T (p.Ala351Val) c.*510C>T (n.*510C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362828A= | CA2215169850 | IL4R | c.1476A= (p.Ala492=) c.1431A= (p.Ala477=) c.230-1275A= (n.230-1275A=) c.*1519A= (n.*1519A=) c.996A= (p.Ala332=) c.585A= (p.Ala195=) c.525A= (p.Ala175=) c.1209A= (p.Ala403=) c.1179A= (p.Ala393=) c.1053A= (p.Ala351=) c.*511A= (n.*511A=) | |
16 | g.27362828A>C | CA7974574 | IL4R | c.1476A>C (p.Ala492=) c.1431A>C (p.Ala477=) c.230-1275A>C (n.230-1275A>C) c.*1519A>C (n.*1519A>C) c.996A>C (p.Ala332=) c.585A>C (p.Ala195=) c.525A>C (p.Ala175=) c.1209A>C (p.Ala403=) c.1179A>C (p.Ala393=) c.1053A>C (p.Ala351=) c.*511A>C (n.*511A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362828A>G | CA7974575 | IL4R | c.1476A>G (p.Ala492=) c.1431A>G (p.Ala477=) c.230-1275A>G (n.230-1275A>G) c.*1519A>G (n.*1519A>G) c.996A>G (p.Ala332=) c.585A>G (p.Ala195=) c.525A>G (p.Ala175=) c.1209A>G (p.Ala403=) c.1179A>G (p.Ala393=) c.1053A>G (p.Ala351=) c.*511A>G (n.*511A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362828A>T | CA494470153 | IL4R | c.1476A>T (p.Ala492=) c.1431A>T (p.Ala477=) c.230-1275A>T (n.230-1275A>T) c.*1519A>T (n.*1519A>T) c.996A>T (p.Ala332=) c.585A>T (p.Ala195=) c.525A>T (p.Ala175=) c.1209A>T (p.Ala403=) c.1179A>T (p.Ala393=) c.1053A>T (p.Ala351=) c.*511A>T (n.*511A>T) | COSMIC |
16 | g.27362829G>A | CA395298971 | IL4R | c.1477G>A (p.Gly493Ser) c.1432G>A (p.Gly478Ser) c.230-1274G>A (n.230-1274G>A) c.*1520G>A (n.*1520G>A) c.997G>A (p.Gly333Ser) c.586G>A (p.Gly196Ser) c.526G>A (p.Gly176Ser) c.1210G>A (p.Gly404Ser) c.1180G>A (p.Gly394Ser) c.1054G>A (p.Gly352Ser) c.*512G>A (n.*512G>A) | |
16 | g.27362829G>C | CA395298972 | IL4R | c.1477G>C (p.Gly493Arg) c.1432G>C (p.Gly478Arg) c.230-1274G>C (n.230-1274G>C) c.*1520G>C (n.*1520G>C) c.997G>C (p.Gly333Arg) c.586G>C (p.Gly196Arg) c.526G>C (p.Gly176Arg) c.1210G>C (p.Gly404Arg) c.1180G>C (p.Gly394Arg) c.1054G>C (p.Gly352Arg) c.*512G>C (n.*512G>C) | |
16 | g.27362829G>T | CA395298973 | IL4R | c.1477G>T (p.Gly493Cys) c.1432G>T (p.Gly478Cys) c.230-1274G>T (n.230-1274G>T) c.*1520G>T (n.*1520G>T) c.997G>T (p.Gly333Cys) c.586G>T (p.Gly196Cys) c.526G>T (p.Gly176Cys) c.1210G>T (p.Gly404Cys) c.1180G>T (p.Gly394Cys) c.1054G>T (p.Gly352Cys) c.*512G>T (n.*512G>T) | |
16 | g.27362830G>A | CA395298976 | IL4R | c.1478G>A (p.Gly493Asp) c.1433G>A (p.Gly478Asp) c.230-1273G>A (n.230-1273G>A) c.*1521G>A (n.*1521G>A) c.998G>A (p.Gly333Asp) c.587G>A (p.Gly196Asp) c.527G>A (p.Gly176Asp) c.1211G>A (p.Gly404Asp) c.1181G>A (p.Gly394Asp) c.1055G>A (p.Gly352Asp) c.*513G>A (n.*513G>A) | gnomAD v4 |
16 | g.27362830G>C | CA395298975 | IL4R | c.1478G>C (p.Gly493Ala) c.1433G>C (p.Gly478Ala) c.230-1273G>C (n.230-1273G>C) c.*1521G>C (n.*1521G>C) c.998G>C (p.Gly333Ala) c.587G>C (p.Gly196Ala) c.527G>C (p.Gly176Ala) c.1211G>C (p.Gly404Ala) c.1181G>C (p.Gly394Ala) c.1055G>C (p.Gly352Ala) c.*513G>C (n.*513G>C) | |
16 | g.27362830G= | CA2215169851 | IL4R | c.1478G= (p.Gly493=) c.1433G= (p.Gly478=) c.230-1273G= (n.230-1273G=) c.*1521G= (n.*1521G=) c.998G= (p.Gly333=) c.587G= (p.Gly196=) c.527G= (p.Gly176=) c.1211G= (p.Gly404=) c.1181G= (p.Gly394=) c.1055G= (p.Gly352=) c.*513G= (n.*513G=) | |
16 | g.27362830G>T | CA395298974 | IL4R | c.1478G>T (p.Gly493Val) c.1433G>T (p.Gly478Val) c.230-1273G>T (n.230-1273G>T) c.*1521G>T (n.*1521G>T) c.998G>T (p.Gly333Val) c.587G>T (p.Gly196Val) c.527G>T (p.Gly176Val) c.1211G>T (p.Gly404Val) c.1181G>T (p.Gly394Val) c.1055G>T (p.Gly352Val) c.*513G>T (n.*513G>T) | dbSNP |
16 | g.27362831C>A | CA494470154 | IL4R | c.1479C>A (p.Gly493=) c.1434C>A (p.Gly478=) c.230-1272C>A (n.230-1272C>A) c.*1522C>A (n.*1522C>A) c.999C>A (p.Gly333=) c.588C>A (p.Gly196=) c.528C>A (p.Gly176=) c.1212C>A (p.Gly404=) c.1182C>A (p.Gly394=) c.1056C>A (p.Gly352=) c.*514C>A (n.*514C>A) | |
16 | g.27362831C= | CA2215169854 | IL4R | c.1479C= (p.Gly493=) c.1434C= (p.Gly478=) c.230-1272C= (n.230-1272C=) c.*1522C= (n.*1522C=) c.999C= (p.Gly333=) c.588C= (p.Gly196=) c.528C= (p.Gly176=) c.1212C= (p.Gly404=) c.1182C= (p.Gly394=) c.1056C= (p.Gly352=) c.*514C= (n.*514C=) | |
16 | g.27362831C>G | CA494470155 | IL4R | c.1479C>G (p.Gly493=) c.1434C>G (p.Gly478=) c.230-1272C>G (n.230-1272C>G) c.*1522C>G (n.*1522C>G) c.999C>G (p.Gly333=) c.588C>G (p.Gly196=) c.528C>G (p.Gly176=) c.1212C>G (p.Gly404=) c.1182C>G (p.Gly394=) c.1056C>G (p.Gly352=) c.*514C>G (n.*514C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362831C>T | CA494470156 | IL4R | c.1479C>T (p.Gly493=) c.1434C>T (p.Gly478=) c.230-1272C>T (n.230-1272C>T) c.*1522C>T (n.*1522C>T) c.999C>T (p.Gly333=) c.588C>T (p.Gly196=) c.528C>T (p.Gly176=) c.1212C>T (p.Gly404=) c.1182C>T (p.Gly394=) c.1056C>T (p.Gly352=) c.*514C>T (n.*514C>T) | |
16 | g.27362832A>C | CA395298977 | IL4R | c.1480A>C (p.Asn494His) c.1435A>C (p.Asn479His) c.230-1271A>C (n.230-1271A>C) c.*1523A>C (n.*1523A>C) c.1000A>C (p.Asn334His) c.589A>C (p.Asn197His) c.529A>C (p.Asn177His) c.1213A>C (p.Asn405His) c.1183A>C (p.Asn395His) c.1057A>C (p.Asn353His) c.*515A>C (n.*515A>C) | |
16 | g.27362832A>G | CA395298978 | IL4R | c.1480A>G (p.Asn494Asp) c.1435A>G (p.Asn479Asp) c.230-1271A>G (n.230-1271A>G) c.*1523A>G (n.*1523A>G) c.1000A>G (p.Asn334Asp) c.589A>G (p.Asn197Asp) c.529A>G (p.Asn177Asp) c.1213A>G (p.Asn405Asp) c.1183A>G (p.Asn395Asp) c.1057A>G (p.Asn353Asp) c.*515A>G (n.*515A>G) | |
16 | g.27362832A>T | CA395298979 | IL4R | c.1480A>T (p.Asn494Tyr) c.1435A>T (p.Asn479Tyr) c.230-1271A>T (n.230-1271A>T) c.*1523A>T (n.*1523A>T) c.1000A>T (p.Asn334Tyr) c.589A>T (p.Asn197Tyr) c.529A>T (p.Asn177Tyr) c.1213A>T (p.Asn405Tyr) c.1183A>T (p.Asn395Tyr) c.1057A>T (p.Asn353Tyr) c.*515A>T (n.*515A>T) | |
16 | g.27362833A>C | CA395298980 | IL4R | c.1481A>C (p.Asn494Thr) c.1436A>C (p.Asn479Thr) c.230-1270A>C (n.230-1270A>C) c.*1524A>C (n.*1524A>C) c.1001A>C (p.Asn334Thr) c.590A>C (p.Asn197Thr) c.530A>C (p.Asn177Thr) c.1214A>C (p.Asn405Thr) c.1184A>C (p.Asn395Thr) c.1058A>C (p.Asn353Thr) c.*516A>C (n.*516A>C) | |
16 | g.27362833A>G | CA395298981 | IL4R | c.1481A>G (p.Asn494Ser) c.1436A>G (p.Asn479Ser) c.230-1270A>G (n.230-1270A>G) c.*1524A>G (n.*1524A>G) c.1001A>G (p.Asn334Ser) c.590A>G (p.Asn197Ser) c.530A>G (p.Asn177Ser) c.1214A>G (p.Asn405Ser) c.1184A>G (p.Asn395Ser) c.1058A>G (p.Asn353Ser) c.*516A>G (n.*516A>G) | |
16 | g.27362833A>T | CA395298982 | IL4R | c.1481A>T (p.Asn494Ile) c.1436A>T (p.Asn479Ile) c.230-1270A>T (n.230-1270A>T) c.*1524A>T (n.*1524A>T) c.1001A>T (p.Asn334Ile) c.590A>T (p.Asn197Ile) c.530A>T (p.Asn177Ile) c.1214A>T (p.Asn405Ile) c.1184A>T (p.Asn395Ile) c.1058A>T (p.Asn353Ile) c.*516A>T (n.*516A>T) | gnomAD v4 |
16 | g.27362834C>A | CA395298983 | IL4R | c.1482C>A (p.Asn494Lys) c.1437C>A (p.Asn479Lys) c.230-1269C>A (n.230-1269C>A) c.*1525C>A (n.*1525C>A) c.1002C>A (p.Asn334Lys) c.591C>A (p.Asn197Lys) c.531C>A (p.Asn177Lys) c.1215C>A (p.Asn405Lys) c.1185C>A (p.Asn395Lys) c.1059C>A (p.Asn353Lys) c.*517C>A (n.*517C>A) | |
16 | g.27362834C>G | CA395298984 | IL4R | c.1482C>G (p.Asn494Lys) c.1437C>G (p.Asn479Lys) c.230-1269C>G (n.230-1269C>G) c.*1525C>G (n.*1525C>G) c.1002C>G (p.Asn334Lys) c.591C>G (p.Asn197Lys) c.531C>G (p.Asn177Lys) c.1215C>G (p.Asn405Lys) c.1185C>G (p.Asn395Lys) c.1059C>G (p.Asn353Lys) c.*517C>G (n.*517C>G) | |
16 | g.27362834C>T | CA494470157 | IL4R | c.1482C>T (p.Asn494=) c.1437C>T (p.Asn479=) c.230-1269C>T (n.230-1269C>T) c.*1525C>T (n.*1525C>T) c.1002C>T (p.Asn334=) c.591C>T (p.Asn197=) c.531C>T (p.Asn177=) c.1215C>T (p.Asn405=) c.1185C>T (p.Asn395=) c.1059C>T (p.Asn353=) c.*517C>T (n.*517C>T) | |
16 | g.27362835C>A | CA395298985 | IL4R | c.1483C>A (p.Pro495Thr) c.1438C>A (p.Pro480Thr) c.230-1268C>A (n.230-1268C>A) c.*1526C>A (n.*1526C>A) c.1003C>A (p.Pro335Thr) c.592C>A (p.Pro198Thr) c.532C>A (p.Pro178Thr) c.1216C>A (p.Pro406Thr) c.1186C>A (p.Pro396Thr) c.1060C>A (p.Pro354Thr) c.*518C>A (n.*518C>A) | gnomAD v4 |
16 | g.27362835C>G | CA395298986 | IL4R | c.1483C>G (p.Pro495Ala) c.1438C>G (p.Pro480Ala) c.230-1268C>G (n.230-1268C>G) c.*1526C>G (n.*1526C>G) c.1003C>G (p.Pro335Ala) c.592C>G (p.Pro198Ala) c.532C>G (p.Pro178Ala) c.1216C>G (p.Pro406Ala) c.1186C>G (p.Pro396Ala) c.1060C>G (p.Pro354Ala) c.*518C>G (n.*518C>G) | |
16 | g.27362835C>T | CA395298987 | IL4R | c.1483C>T (p.Pro495Ser) c.1438C>T (p.Pro480Ser) c.230-1268C>T (n.230-1268C>T) c.*1526C>T (n.*1526C>T) c.1003C>T (p.Pro335Ser) c.592C>T (p.Pro198Ser) c.532C>T (p.Pro178Ser) c.1216C>T (p.Pro406Ser) c.1186C>T (p.Pro396Ser) c.1060C>T (p.Pro354Ser) c.*518C>T (n.*518C>T) | gnomAD v4 |
16 | g.27362836C>A | CA395298988 | IL4R | c.1484C>A (p.Pro495His) c.1439C>A (p.Pro480His) c.230-1267C>A (n.230-1267C>A) c.*1527C>A (n.*1527C>A) c.1004C>A (p.Pro335His) c.593C>A (p.Pro198His) c.533C>A (p.Pro178His) c.1217C>A (p.Pro406His) c.1187C>A (p.Pro396His) c.1061C>A (p.Pro354His) c.*519C>A (n.*519C>A) | |
16 | g.27362836C>G | CA395298989 | IL4R | c.1484C>G (p.Pro495Arg) c.1439C>G (p.Pro480Arg) c.230-1267C>G (n.230-1267C>G) c.*1527C>G (n.*1527C>G) c.1004C>G (p.Pro335Arg) c.593C>G (p.Pro198Arg) c.533C>G (p.Pro178Arg) c.1217C>G (p.Pro406Arg) c.1187C>G (p.Pro396Arg) c.1061C>G (p.Pro354Arg) c.*519C>G (n.*519C>G) | |
16 | g.27362836C>T | CA395298990 | IL4R | c.1484C>T (p.Pro495Leu) c.1439C>T (p.Pro480Leu) c.230-1267C>T (n.230-1267C>T) c.*1527C>T (n.*1527C>T) c.1004C>T (p.Pro335Leu) c.593C>T (p.Pro198Leu) c.533C>T (p.Pro178Leu) c.1217C>T (p.Pro406Leu) c.1187C>T (p.Pro396Leu) c.1061C>T (p.Pro354Leu) c.*519C>T (n.*519C>T) | |
16 | g.27362837T>A | CA494470158 | IL4R | c.1485T>A (p.Pro495=) c.1440T>A (p.Pro480=) c.230-1266T>A (n.230-1266T>A) c.*1528T>A (n.*1528T>A) c.1005T>A (p.Pro335=) c.594T>A (p.Pro198=) c.534T>A (p.Pro178=) c.1218T>A (p.Pro406=) c.1188T>A (p.Pro396=) c.1062T>A (p.Pro354=) c.*520T>A (n.*520T>A) | |
16 | g.27362837T>C | CA494470159 | IL4R | c.1485T>C (p.Pro495=) c.1440T>C (p.Pro480=) c.230-1266T>C (n.230-1266T>C) c.*1528T>C (n.*1528T>C) c.1005T>C (p.Pro335=) c.594T>C (p.Pro198=) c.534T>C (p.Pro178=) c.1218T>C (p.Pro406=) c.1188T>C (p.Pro396=) c.1062T>C (p.Pro354=) c.*520T>C (n.*520T>C) | |
16 | g.27362837T>G | CA494470160 | IL4R | c.1485T>G (p.Pro495=) c.1440T>G (p.Pro480=) c.230-1266T>G (n.230-1266T>G) c.*1528T>G (n.*1528T>G) c.1005T>G (p.Pro335=) c.594T>G (p.Pro198=) c.534T>G (p.Pro178=) c.1218T>G (p.Pro406=) c.1188T>G (p.Pro396=) c.1062T>G (p.Pro354=) c.*520T>G (n.*520T>G) | |
16 | g.27362838G>A | CA7974576 | IL4R | c.1486G>A (p.Ala496Thr) c.1441G>A (p.Ala481Thr) c.230-1265G>A (n.230-1265G>A) c.*1529G>A (n.*1529G>A) c.1006G>A (p.Ala336Thr) c.595G>A (p.Ala199Thr) c.535G>A (p.Ala179Thr) c.1219G>A (p.Ala407Thr) c.1189G>A (p.Ala397Thr) c.1063G>A (p.Ala355Thr) c.*521G>A (n.*521G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362838G>C | CA395298992 | IL4R | c.1486G>C (p.Ala496Pro) c.1441G>C (p.Ala481Pro) c.230-1265G>C (n.230-1265G>C) c.*1529G>C (n.*1529G>C) c.1006G>C (p.Ala336Pro) c.595G>C (p.Ala199Pro) c.535G>C (p.Ala179Pro) c.1219G>C (p.Ala407Pro) c.1189G>C (p.Ala397Pro) c.1063G>C (p.Ala355Pro) c.*521G>C (n.*521G>C) | |
16 | g.27362838G= | CA2215169856 | IL4R | c.1486G= (p.Ala496=) c.1441G= (p.Ala481=) c.230-1265G= (n.230-1265G=) c.*1529G= (n.*1529G=) c.1006G= (p.Ala336=) c.595G= (p.Ala199=) c.535G= (p.Ala179=) c.1219G= (p.Ala407=) c.1189G= (p.Ala397=) c.1063G= (p.Ala355=) c.*521G= (n.*521G=) | |
16 | g.27362838G>T | CA395298991 | IL4R | c.1486G>T (p.Ala496Ser) c.1441G>T (p.Ala481Ser) c.230-1265G>T (n.230-1265G>T) c.*1529G>T (n.*1529G>T) c.1006G>T (p.Ala336Ser) c.595G>T (p.Ala199Ser) c.535G>T (p.Ala179Ser) c.1219G>T (p.Ala407Ser) c.1189G>T (p.Ala397Ser) c.1063G>T (p.Ala355Ser) c.*521G>T (n.*521G>T) | |
16 | g.27362839C>A | CA395298993 | IL4R | c.1487C>A (p.Ala496Asp) c.1442C>A (p.Ala481Asp) c.230-1264C>A (n.230-1264C>A) c.*1530C>A (n.*1530C>A) c.1007C>A (p.Ala336Asp) c.596C>A (p.Ala199Asp) c.536C>A (p.Ala179Asp) c.1220C>A (p.Ala407Asp) c.1190C>A (p.Ala397Asp) c.1064C>A (p.Ala355Asp) c.*522C>A (n.*522C>A) | |
16 | g.27362839C>G | CA395298994 | IL4R | c.1487C>G (p.Ala496Gly) c.1442C>G (p.Ala481Gly) c.230-1264C>G (n.230-1264C>G) c.*1530C>G (n.*1530C>G) c.1007C>G (p.Ala336Gly) c.596C>G (p.Ala199Gly) c.536C>G (p.Ala179Gly) c.1220C>G (p.Ala407Gly) c.1190C>G (p.Ala397Gly) c.1064C>G (p.Ala355Gly) c.*522C>G (n.*522C>G) | |
16 | g.27362839C>T | CA395298995 | IL4R | c.1487C>T (p.Ala496Val) c.1442C>T (p.Ala481Val) c.230-1264C>T (n.230-1264C>T) c.*1530C>T (n.*1530C>T) c.1007C>T (p.Ala336Val) c.596C>T (p.Ala199Val) c.536C>T (p.Ala179Val) c.1220C>T (p.Ala407Val) c.1190C>T (p.Ala397Val) c.1064C>T (p.Ala355Val) c.*522C>T (n.*522C>T) | |
16 | g.27362840T>A | CA494470161 | IL4R | c.1488T>A (p.Ala496=) c.1443T>A (p.Ala481=) c.230-1263T>A (n.230-1263T>A) c.*1531T>A (n.*1531T>A) c.1008T>A (p.Ala336=) c.597T>A (p.Ala199=) c.537T>A (p.Ala179=) c.1221T>A (p.Ala407=) c.1191T>A (p.Ala397=) c.1065T>A (p.Ala355=) c.*523T>A (n.*523T>A) | |
16 | g.27362840T>C | CA494470162 | IL4R | c.1488T>C (p.Ala496=) c.1443T>C (p.Ala481=) c.230-1263T>C (n.230-1263T>C) c.*1531T>C (n.*1531T>C) c.1008T>C (p.Ala336=) c.597T>C (p.Ala199=) c.537T>C (p.Ala179=) c.1221T>C (p.Ala407=) c.1191T>C (p.Ala397=) c.1065T>C (p.Ala355=) c.*523T>C (n.*523T>C) | |
16 | g.27362840T>G | CA494470163 | IL4R | c.1488T>G (p.Ala496=) c.1443T>G (p.Ala481=) c.230-1263T>G (n.230-1263T>G) c.*1531T>G (n.*1531T>G) c.1008T>G (p.Ala336=) c.597T>G (p.Ala199=) c.537T>G (p.Ala179=) c.1221T>G (p.Ala407=) c.1191T>G (p.Ala397=) c.1065T>G (p.Ala355=) c.*523T>G (n.*523T>G) | |
16 | g.27362841T>A | CA395298996 | IL4R | c.1489T>A (p.Tyr497Asn) c.1444T>A (p.Tyr482Asn) c.230-1262T>A (n.230-1262T>A) c.*1532T>A (n.*1532T>A) c.1009T>A (p.Tyr337Asn) c.598T>A (p.Tyr200Asn) c.538T>A (p.Tyr180Asn) c.1222T>A (p.Tyr408Asn) c.1192T>A (p.Tyr398Asn) c.1066T>A (p.Tyr356Asn) c.*524T>A (n.*524T>A) | |
16 | g.27362841T>C | CA7974577 | IL4R | c.1489T>C (p.Tyr497His) c.1444T>C (p.Tyr482His) c.230-1262T>C (n.230-1262T>C) c.*1532T>C (n.*1532T>C) c.1009T>C (p.Tyr337His) c.598T>C (p.Tyr200His) c.538T>C (p.Tyr180His) c.1222T>C (p.Tyr408His) c.1192T>C (p.Tyr398His) c.1066T>C (p.Tyr356His) c.*524T>C (n.*524T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362841T>G | CA395298997 | IL4R | c.1489T>G (p.Tyr497Asp) c.1444T>G (p.Tyr482Asp) c.230-1262T>G (n.230-1262T>G) c.*1532T>G (n.*1532T>G) c.1009T>G (p.Tyr337Asp) c.598T>G (p.Tyr200Asp) c.538T>G (p.Tyr180Asp) c.1222T>G (p.Tyr408Asp) c.1192T>G (p.Tyr398Asp) c.1066T>G (p.Tyr356Asp) c.*524T>G (n.*524T>G) | |
16 | g.27362841T= | CA2215169858 | IL4R | c.1489T= (p.Tyr497=) c.1444T= (p.Tyr482=) c.230-1262T= (n.230-1262T=) c.*1532T= (n.*1532T=) c.1009T= (p.Tyr337=) c.598T= (p.Tyr200=) c.538T= (p.Tyr180=) c.1222T= (p.Tyr408=) c.1192T= (p.Tyr398=) c.1066T= (p.Tyr356=) c.*524T= (n.*524T=) | |
16 | g.27362842A>C | CA395299000 | IL4R | c.1490A>C (p.Tyr497Ser) c.1445A>C (p.Tyr482Ser) c.230-1261A>C (n.230-1261A>C) c.*1533A>C (n.*1533A>C) c.1010A>C (p.Tyr337Ser) c.599A>C (p.Tyr200Ser) c.539A>C (p.Tyr180Ser) c.1223A>C (p.Tyr408Ser) c.1193A>C (p.Tyr398Ser) c.1067A>C (p.Tyr356Ser) c.*525A>C (n.*525A>C) | gnomAD v4 |
16 | g.27362842A>G | CA395298998 | IL4R | c.1490A>G (p.Tyr497Cys) c.1445A>G (p.Tyr482Cys) c.230-1261A>G (n.230-1261A>G) c.*1533A>G (n.*1533A>G) c.1010A>G (p.Tyr337Cys) c.599A>G (p.Tyr200Cys) c.539A>G (p.Tyr180Cys) c.1223A>G (p.Tyr408Cys) c.1193A>G (p.Tyr398Cys) c.1067A>G (p.Tyr356Cys) c.*525A>G (n.*525A>G) | |
16 | g.27362842A>T | CA395298999 | IL4R | c.1490A>T (p.Tyr497Phe) c.1445A>T (p.Tyr482Phe) c.230-1261A>T (n.230-1261A>T) c.*1533A>T (n.*1533A>T) c.1010A>T (p.Tyr337Phe) c.599A>T (p.Tyr200Phe) c.539A>T (p.Tyr180Phe) c.1223A>T (p.Tyr408Phe) c.1193A>T (p.Tyr398Phe) c.1067A>T (p.Tyr356Phe) c.*525A>T (n.*525A>T) | |
16 | g.27362843C>A | CA395299001 | IL4R | c.1491C>A (p.Tyr497Ter) c.1446C>A (p.Tyr482Ter) c.230-1260C>A (n.230-1260C>A) c.*1534C>A (n.*1534C>A) c.1011C>A (p.Tyr337Ter) c.600C>A (p.Tyr200Ter) c.540C>A (p.Tyr180Ter) c.1224C>A (p.Tyr408Ter) c.1194C>A (p.Tyr398Ter) c.1068C>A (p.Tyr356Ter) c.*526C>A (n.*526C>A) | |
16 | g.27362843C= | CA2215169860 | IL4R | c.1491C= (p.Tyr497=) c.1446C= (p.Tyr482=) c.230-1260C= (n.230-1260C=) c.*1534C= (n.*1534C=) c.1011C= (p.Tyr337=) c.600C= (p.Tyr200=) c.540C= (p.Tyr180=) c.1224C= (p.Tyr408=) c.1194C= (p.Tyr398=) c.1068C= (p.Tyr356=) c.*526C= (n.*526C=) | |
16 | g.27362843C>G | CA395299002 | IL4R | c.1491C>G (p.Tyr497Ter) c.1446C>G (p.Tyr482Ter) c.230-1260C>G (n.230-1260C>G) c.*1534C>G (n.*1534C>G) c.1011C>G (p.Tyr337Ter) c.600C>G (p.Tyr200Ter) c.540C>G (p.Tyr180Ter) c.1224C>G (p.Tyr408Ter) c.1194C>G (p.Tyr398Ter) c.1068C>G (p.Tyr356Ter) c.*526C>G (n.*526C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362843C>T | CA494470164 | IL4R | c.1491C>T (p.Tyr497=) c.1446C>T (p.Tyr482=) c.230-1260C>T (n.230-1260C>T) c.*1534C>T (n.*1534C>T) c.1011C>T (p.Tyr337=) c.600C>T (p.Tyr200=) c.540C>T (p.Tyr180=) c.1224C>T (p.Tyr408=) c.1194C>T (p.Tyr398=) c.1068C>T (p.Tyr356=) c.*526C>T (n.*526C>T) | |
16 | g.27362844C>A | CA395299003 | IL4R | c.1492C>A (p.Arg498Ser) c.1447C>A (p.Arg483Ser) c.230-1259C>A (n.230-1259C>A) c.*1535C>A (n.*1535C>A) c.1012C>A (p.Arg338Ser) c.601C>A (p.Arg201Ser) c.541C>A (p.Arg181Ser) c.1225C>A (p.Arg409Ser) c.1195C>A (p.Arg399Ser) c.1069C>A (p.Arg357Ser) c.*527C>A (n.*527C>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362844C= | CA2215169862 | IL4R | c.1492C= (p.Arg498=) c.1447C= (p.Arg483=) c.230-1259C= (n.230-1259C=) c.*1535C= (n.*1535C=) c.1012C= (p.Arg338=) c.601C= (p.Arg201=) c.541C= (p.Arg181=) c.1225C= (p.Arg409=) c.1195C= (p.Arg399=) c.1069C= (p.Arg357=) c.*527C= (n.*527C=) | |
16 | g.27362844C>G | CA395299004 | IL4R | c.1492C>G (p.Arg498Gly) c.1447C>G (p.Arg483Gly) c.230-1259C>G (n.230-1259C>G) c.*1535C>G (n.*1535C>G) c.1012C>G (p.Arg338Gly) c.601C>G (p.Arg201Gly) c.541C>G (p.Arg181Gly) c.1225C>G (p.Arg409Gly) c.1195C>G (p.Arg399Gly) c.1069C>G (p.Arg357Gly) c.*527C>G (n.*527C>G) | |
16 | g.27362844C>T | CA7974578 | IL4R | c.1492C>T (p.Arg498Cys) c.1447C>T (p.Arg483Cys) c.230-1259C>T (n.230-1259C>T) c.*1535C>T (n.*1535C>T) c.1012C>T (p.Arg338Cys) c.601C>T (p.Arg201Cys) c.541C>T (p.Arg181Cys) c.1225C>T (p.Arg409Cys) c.1195C>T (p.Arg399Cys) c.1069C>T (p.Arg357Cys) c.*527C>T (n.*527C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362845G>A | CA7974579 | IL4R | c.1493G>A (p.Arg498His) c.1448G>A (p.Arg483His) c.230-1258G>A (n.230-1258G>A) c.*1536G>A (n.*1536G>A) c.1013G>A (p.Arg338His) c.602G>A (p.Arg201His) c.542G>A (p.Arg181His) c.1226G>A (p.Arg409His) c.1196G>A (p.Arg399His) c.1070G>A (p.Arg357His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362845G>C | CA395299006 | IL4R | c.1493G>C (p.Arg498Pro) c.1448G>C (p.Arg483Pro) c.230-1258G>C (n.230-1258G>C) c.*1536G>C (n.*1536G>C) c.1013G>C (p.Arg338Pro) c.602G>C (p.Arg201Pro) c.542G>C (p.Arg181Pro) c.1226G>C (p.Arg409Pro) c.1196G>C (p.Arg399Pro) c.1070G>C (p.Arg357Pro) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362845G= | CA2215169866 | IL4R | c.1493G= (p.Arg498=) c.1448G= (p.Arg483=) c.230-1258G= (n.230-1258G=) c.*1536G= (n.*1536G=) c.1013G= (p.Arg338=) c.602G= (p.Arg201=) c.542G= (p.Arg181=) c.1226G= (p.Arg409=) c.1196G= (p.Arg399=) c.1070G= (p.Arg357=) | |
16 | g.27362845G>T | CA395299005 | IL4R | c.1493G>T (p.Arg498Leu) c.1448G>T (p.Arg483Leu) c.230-1258G>T (n.230-1258G>T) c.*1536G>T (n.*1536G>T) c.1013G>T (p.Arg338Leu) c.602G>T (p.Arg201Leu) c.542G>T (p.Arg181Leu) c.1226G>T (p.Arg409Leu) c.1196G>T (p.Arg399Leu) c.1070G>T (p.Arg357Leu) | |
16 | g.27362846C>A | CA494470165 | IL4R | c.1494C>A (p.Arg498=) c.1449C>A (p.Arg483=) c.230-1257C>A (n.230-1257C>A) c.*1537C>A (n.*1537C>A) c.1014C>A (p.Arg338=) c.603C>A (p.Arg201=) c.543C>A (p.Arg181=) c.1227C>A (p.Arg409=) c.1197C>A (p.Arg399=) c.1071C>A (p.Arg357=) | |
16 | g.27362846C>G | CA494470166 | IL4R | c.1494C>G (p.Arg498=) c.1449C>G (p.Arg483=) c.230-1257C>G (n.230-1257C>G) c.*1537C>G (n.*1537C>G) c.1014C>G (p.Arg338=) c.603C>G (p.Arg201=) c.543C>G (p.Arg181=) c.1227C>G (p.Arg409=) c.1197C>G (p.Arg399=) c.1071C>G (p.Arg357=) | |
16 | g.27362846C>T | CA494470167 | IL4R | c.1494C>T (p.Arg498=) c.1449C>T (p.Arg483=) c.230-1257C>T (n.230-1257C>T) c.*1537C>T (n.*1537C>T) c.1014C>T (p.Arg338=) c.603C>T (p.Arg201=) c.543C>T (p.Arg181=) c.1227C>T (p.Arg409=) c.1197C>T (p.Arg399=) c.1071C>T (p.Arg357=) | |
16 | g.27362847A>C | CA395299007 | IL4R | c.1495A>C (p.Ser499Arg) c.1450A>C (p.Ser484Arg) c.230-1256A>C (n.230-1256A>C) c.*1538A>C (n.*1538A>C) c.1015A>C (p.Ser339Arg) c.604A>C (p.Ser202Arg) c.544A>C (p.Ser182Arg) c.1228A>C (p.Ser410Arg) c.1198A>C (p.Ser400Arg) c.1072A>C (p.Ser358Arg) | |
16 | g.27362847A>G | CA395299008 | IL4R | c.1495A>G (p.Ser499Gly) c.1450A>G (p.Ser484Gly) c.230-1256A>G (n.230-1256A>G) c.*1538A>G (n.*1538A>G) c.1015A>G (p.Ser339Gly) c.604A>G (p.Ser202Gly) c.544A>G (p.Ser182Gly) c.1228A>G (p.Ser410Gly) c.1198A>G (p.Ser400Gly) c.1072A>G (p.Ser358Gly) | |
16 | g.27362847A>T | CA395299009 | IL4R | c.1495A>T (p.Ser499Cys) c.1450A>T (p.Ser484Cys) c.230-1256A>T (n.230-1256A>T) c.*1538A>T (n.*1538A>T) c.1015A>T (p.Ser339Cys) c.604A>T (p.Ser202Cys) c.544A>T (p.Ser182Cys) c.1228A>T (p.Ser410Cys) c.1198A>T (p.Ser400Cys) c.1072A>T (p.Ser358Cys) | |
16 | g.27362848G>A | CA395299010 | IL4R | c.1496G>A (p.Ser499Asn) c.1451G>A (p.Ser484Asn) c.230-1255G>A (n.230-1255G>A) c.*1539G>A (n.*1539G>A) c.1016G>A (p.Ser339Asn) c.605G>A (p.Ser202Asn) c.545G>A (p.Ser182Asn) c.1229G>A (p.Ser410Asn) c.1199G>A (p.Ser400Asn) c.1073G>A (p.Ser358Asn) | |
16 | g.27362848G>C | CA395299011 | IL4R | c.1496G>C (p.Ser499Thr) c.1451G>C (p.Ser484Thr) c.230-1255G>C (n.230-1255G>C) c.*1539G>C (n.*1539G>C) c.1016G>C (p.Ser339Thr) c.605G>C (p.Ser202Thr) c.545G>C (p.Ser182Thr) c.1229G>C (p.Ser410Thr) c.1199G>C (p.Ser400Thr) c.1073G>C (p.Ser358Thr) | |
16 | g.27362848G>T | CA395299012 | IL4R | c.1496G>T (p.Ser499Ile) c.1451G>T (p.Ser484Ile) c.230-1255G>T (n.230-1255G>T) c.*1539G>T (n.*1539G>T) c.1016G>T (p.Ser339Ile) c.605G>T (p.Ser202Ile) c.545G>T (p.Ser182Ile) c.1229G>T (p.Ser410Ile) c.1199G>T (p.Ser400Ile) c.1073G>T (p.Ser358Ile) | gnomAD v4 |
16 | g.27362849C>A | CA395299013 | IL4R | c.1497C>A (p.Ser499Arg) c.1452C>A (p.Ser484Arg) c.230-1254C>A (n.230-1254C>A) c.*1540C>A (n.*1540C>A) c.1017C>A (p.Ser339Arg) c.606C>A (p.Ser202Arg) c.546C>A (p.Ser182Arg) c.1230C>A (p.Ser410Arg) c.1200C>A (p.Ser400Arg) c.1074C>A (p.Ser358Arg) | |
16 | g.27362849C>G | CA395299014 | IL4R | c.1497C>G (p.Ser499Arg) c.1452C>G (p.Ser484Arg) c.230-1254C>G (n.230-1254C>G) c.*1540C>G (n.*1540C>G) c.1017C>G (p.Ser339Arg) c.606C>G (p.Ser202Arg) c.546C>G (p.Ser182Arg) c.1230C>G (p.Ser410Arg) c.1200C>G (p.Ser400Arg) c.1074C>G (p.Ser358Arg) | |
16 | g.27362849C>T | CA494470168 | IL4R | c.1497C>T (p.Ser499=) c.1452C>T (p.Ser484=) c.230-1254C>T (n.230-1254C>T) c.*1540C>T (n.*1540C>T) c.1017C>T (p.Ser339=) c.606C>T (p.Ser202=) c.546C>T (p.Ser182=) c.1230C>T (p.Ser410=) c.1200C>T (p.Ser400=) c.1074C>T (p.Ser358=) | |
16 | g.27362850T>A | CA395299015 | IL4R | c.1498T>A (p.Phe500Ile) c.1453T>A (p.Phe485Ile) c.230-1253T>A (n.230-1253T>A) c.*1541T>A (n.*1541T>A) c.1018T>A (p.Phe340Ile) c.607T>A (p.Phe203Ile) c.547T>A (p.Phe183Ile) c.1231T>A (p.Phe411Ile) c.1201T>A (p.Phe401Ile) c.1075T>A (p.Phe359Ile) | |
16 | g.27362850T>C | CA395299016 | IL4R | c.1498T>C (p.Phe500Leu) c.1453T>C (p.Phe485Leu) c.230-1253T>C (n.230-1253T>C) c.*1541T>C (n.*1541T>C) c.1018T>C (p.Phe340Leu) c.607T>C (p.Phe203Leu) c.547T>C (p.Phe183Leu) c.1231T>C (p.Phe411Leu) c.1201T>C (p.Phe401Leu) c.1075T>C (p.Phe359Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362850T>G | CA395299017 | IL4R | c.1498T>G (p.Phe500Val) c.1453T>G (p.Phe485Val) c.230-1253T>G (n.230-1253T>G) c.*1541T>G (n.*1541T>G) c.1018T>G (p.Phe340Val) c.607T>G (p.Phe203Val) c.547T>G (p.Phe183Val) c.1231T>G (p.Phe411Val) c.1201T>G (p.Phe401Val) c.1075T>G (p.Phe359Val) | |
16 | g.27362850T= | CA2215169869 | IL4R | c.1498T= (p.Phe500=) c.1453T= (p.Phe485=) c.230-1253T= (n.230-1253T=) c.*1541T= (n.*1541T=) c.1018T= (p.Phe340=) c.607T= (p.Phe203=) c.547T= (p.Phe183=) c.1231T= (p.Phe411=) c.1201T= (p.Phe401=) c.1075T= (p.Phe359=) | |
16 | g.27362851T>A | CA395299020 | IL4R | c.1499T>A (p.Phe500Tyr) c.1454T>A (p.Phe485Tyr) c.230-1252T>A (n.230-1252T>A) c.*1542T>A (n.*1542T>A) c.1019T>A (p.Phe340Tyr) c.608T>A (p.Phe203Tyr) c.548T>A (p.Phe183Tyr) c.1232T>A (p.Phe411Tyr) c.1202T>A (p.Phe401Tyr) c.1076T>A (p.Phe359Tyr) | |
16 | g.27362851T>C | CA395299019 | IL4R | c.1499T>C (p.Phe500Ser) c.1454T>C (p.Phe485Ser) c.230-1252T>C (n.230-1252T>C) c.*1542T>C (n.*1542T>C) c.1019T>C (p.Phe340Ser) c.608T>C (p.Phe203Ser) c.548T>C (p.Phe183Ser) c.1232T>C (p.Phe411Ser) c.1202T>C (p.Phe401Ser) c.1076T>C (p.Phe359Ser) | |
16 | g.27362851T>G | CA395299018 | IL4R | c.1499T>G (p.Phe500Cys) c.1454T>G (p.Phe485Cys) c.230-1252T>G (n.230-1252T>G) c.*1542T>G (n.*1542T>G) c.1019T>G (p.Phe340Cys) c.608T>G (p.Phe203Cys) c.548T>G (p.Phe183Cys) c.1232T>G (p.Phe411Cys) c.1202T>G (p.Phe401Cys) c.1076T>G (p.Phe359Cys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362851T= | CA2215169870 | IL4R | c.1499T= (p.Phe500=) c.1454T= (p.Phe485=) c.230-1252T= (n.230-1252T=) c.*1542T= (n.*1542T=) c.1019T= (p.Phe340=) c.608T= (p.Phe203=) c.548T= (p.Phe183=) c.1232T= (p.Phe411=) c.1202T= (p.Phe401=) c.1076T= (p.Phe359=) | |
16 | g.27362852C>A | CA395299022 | IL4R | c.1500C>A (p.Phe500Leu) c.1455C>A (p.Phe485Leu) c.230-1251C>A (n.230-1251C>A) c.*1543C>A (n.*1543C>A) c.1020C>A (p.Phe340Leu) c.609C>A (p.Phe203Leu) c.549C>A (p.Phe183Leu) c.1233C>A (p.Phe411Leu) c.1203C>A (p.Phe401Leu) c.1077C>A (p.Phe359Leu) | |
16 | g.27362852C>G | CA395299021 | IL4R | c.1500C>G (p.Phe500Leu) c.1455C>G (p.Phe485Leu) c.230-1251C>G (n.230-1251C>G) c.*1543C>G (n.*1543C>G) c.1020C>G (p.Phe340Leu) c.609C>G (p.Phe203Leu) c.549C>G (p.Phe183Leu) c.1233C>G (p.Phe411Leu) c.1203C>G (p.Phe401Leu) c.1077C>G (p.Phe359Leu) | |
16 | g.27362852C>T | CA494470169 | IL4R | c.1500C>T (p.Phe500=) c.1455C>T (p.Phe485=) c.230-1251C>T (n.230-1251C>T) c.*1543C>T (n.*1543C>T) c.1020C>T (p.Phe340=) c.609C>T (p.Phe203=) c.549C>T (p.Phe183=) c.1233C>T (p.Phe411=) c.1203C>T (p.Phe401=) c.1077C>T (p.Phe359=) | |
16 | g.27362853A>C | CA395299024 | IL4R | c.1501A>C (p.Ser501Arg) c.1456A>C (p.Ser486Arg) c.230-1250A>C (n.230-1250A>C) c.*1544A>C (n.*1544A>C) c.1021A>C (p.Ser341Arg) c.610A>C (p.Ser204Arg) c.550A>C (p.Ser184Arg) c.1234A>C (p.Ser412Arg) c.1204A>C (p.Ser402Arg) c.1078A>C (p.Ser360Arg) | |
16 | g.27362853A>G | CA395299023 | IL4R | c.1501A>G (p.Ser501Gly) c.1456A>G (p.Ser486Gly) c.230-1250A>G (n.230-1250A>G) c.*1544A>G (n.*1544A>G) c.1021A>G (p.Ser341Gly) c.610A>G (p.Ser204Gly) c.550A>G (p.Ser184Gly) c.1234A>G (p.Ser412Gly) c.1204A>G (p.Ser402Gly) c.1078A>G (p.Ser360Gly) | |
16 | g.27362853A>T | CA395299025 | IL4R | c.1501A>T (p.Ser501Cys) c.1456A>T (p.Ser486Cys) c.230-1250A>T (n.230-1250A>T) c.*1544A>T (n.*1544A>T) c.1021A>T (p.Ser341Cys) c.610A>T (p.Ser204Cys) c.550A>T (p.Ser184Cys) c.1234A>T (p.Ser412Cys) c.1204A>T (p.Ser402Cys) c.1078A>T (p.Ser360Cys) | |
16 | g.27362854G>A | CA395299026 | IL4R | c.1502G>A (p.Ser501Asn) c.1457G>A (p.Ser486Asn) c.230-1249G>A (n.230-1249G>A) c.*1545G>A (n.*1545G>A) c.1022G>A (p.Ser341Asn) c.611G>A (p.Ser204Asn) c.551G>A (p.Ser184Asn) c.1235G>A (p.Ser412Asn) c.1205G>A (p.Ser402Asn) c.1079G>A (p.Ser360Asn) | dbSNP |
16 | g.27362854G>C | CA395299027 | IL4R | c.1502G>C (p.Ser501Thr) c.1457G>C (p.Ser486Thr) c.230-1249G>C (n.230-1249G>C) c.*1545G>C (n.*1545G>C) c.1022G>C (p.Ser341Thr) c.611G>C (p.Ser204Thr) c.551G>C (p.Ser184Thr) c.1235G>C (p.Ser412Thr) c.1205G>C (p.Ser402Thr) c.1079G>C (p.Ser360Thr) | |
16 | g.27362854G= | CA2215169872 | IL4R | c.1502G= (p.Ser501=) c.1457G= (p.Ser486=) c.230-1249G= (n.230-1249G=) c.*1545G= (n.*1545G=) c.1022G= (p.Ser341=) c.611G= (p.Ser204=) c.551G= (p.Ser184=) c.1235G= (p.Ser412=) c.1205G= (p.Ser402=) c.1079G= (p.Ser360=) | |
16 | g.27362854G>T | CA395299028 | IL4R | c.1502G>T (p.Ser501Ile) c.1457G>T (p.Ser486Ile) c.230-1249G>T (n.230-1249G>T) c.*1545G>T (n.*1545G>T) c.1022G>T (p.Ser341Ile) c.611G>T (p.Ser204Ile) c.551G>T (p.Ser184Ile) c.1235G>T (p.Ser412Ile) c.1205G>T (p.Ser402Ile) c.1079G>T (p.Ser360Ile) | |
16 | g.27362855C>A | CA395299029 | IL4R | c.1503C>A (p.Ser501Arg) c.1458C>A (p.Ser486Arg) c.230-1248C>A (n.230-1248C>A) c.*1546C>A (n.*1546C>A) c.1023C>A (p.Ser341Arg) c.612C>A (p.Ser204Arg) c.552C>A (p.Ser184Arg) c.1236C>A (p.Ser412Arg) c.1206C>A (p.Ser402Arg) c.1080C>A (p.Ser360Arg) | |
16 | g.27362855C>G | CA395299030 | IL4R | c.1503C>G (p.Ser501Arg) c.1458C>G (p.Ser486Arg) c.230-1248C>G (n.230-1248C>G) c.*1546C>G (n.*1546C>G) c.1023C>G (p.Ser341Arg) c.612C>G (p.Ser204Arg) c.552C>G (p.Ser184Arg) c.1236C>G (p.Ser412Arg) c.1206C>G (p.Ser402Arg) c.1080C>G (p.Ser360Arg) | |
16 | g.27362855C>T | CA494470170 | IL4R | c.1503C>T (p.Ser501=) c.1458C>T (p.Ser486=) c.230-1248C>T (n.230-1248C>T) c.*1546C>T (n.*1546C>T) c.1023C>T (p.Ser341=) c.612C>T (p.Ser204=) c.552C>T (p.Ser184=) c.1236C>T (p.Ser412=) c.1206C>T (p.Ser402=) c.1080C>T (p.Ser360=) | gnomAD v4 |
16 | g.27362856A>C | CA395299031 | IL4R | c.1504A>C (p.Asn502His) c.1459A>C (p.Asn487His) c.230-1247A>C (n.230-1247A>C) c.*1547A>C (n.*1547A>C) c.1024A>C (p.Asn342His) c.613A>C (p.Asn205His) c.553A>C (p.Asn185His) c.1237A>C (p.Asn413His) c.1207A>C (p.Asn403His) c.1081A>C (p.Asn361His) | |
16 | g.27362856A>G | CA395299032 | IL4R | c.1504A>G (p.Asn502Asp) c.1459A>G (p.Asn487Asp) c.230-1247A>G (n.230-1247A>G) c.*1547A>G (n.*1547A>G) c.1024A>G (p.Asn342Asp) c.613A>G (p.Asn205Asp) c.553A>G (p.Asn185Asp) c.1237A>G (p.Asn413Asp) c.1207A>G (p.Asn403Asp) c.1081A>G (p.Asn361Asp) | |
16 | g.27362856A>T | CA395299033 | IL4R | c.1504A>T (p.Asn502Tyr) c.1459A>T (p.Asn487Tyr) c.230-1247A>T (n.230-1247A>T) c.*1547A>T (n.*1547A>T) c.1024A>T (p.Asn342Tyr) c.613A>T (p.Asn205Tyr) c.553A>T (p.Asn185Tyr) c.1237A>T (p.Asn413Tyr) c.1207A>T (p.Asn403Tyr) c.1081A>T (p.Asn361Tyr) | |
16 | g.27362857A= | CA2215169873 | IL4R | c.1505A= (p.Asn502=) c.1460A= (p.Asn487=) c.230-1246A= (n.230-1246A=) c.*1548A= (n.*1548A=) c.1025A= (p.Asn342=) c.614A= (p.Asn205=) c.554A= (p.Asn185=) c.1238A= (p.Asn413=) c.1208A= (p.Asn403=) c.1082A= (p.Asn361=) | |
16 | g.27362857A>C | CA395299034 | IL4R | c.1505A>C (p.Asn502Thr) c.1460A>C (p.Asn487Thr) c.230-1246A>C (n.230-1246A>C) c.*1548A>C (n.*1548A>C) c.1025A>C (p.Asn342Thr) c.614A>C (p.Asn205Thr) c.554A>C (p.Asn185Thr) c.1238A>C (p.Asn413Thr) c.1208A>C (p.Asn403Thr) c.1082A>C (p.Asn361Thr) | |
16 | g.27362857A>G | CA7974580 | IL4R | c.1505A>G (p.Asn502Ser) c.1460A>G (p.Asn487Ser) c.230-1246A>G (n.230-1246A>G) c.*1548A>G (n.*1548A>G) c.1025A>G (p.Asn342Ser) c.614A>G (p.Asn205Ser) c.554A>G (p.Asn185Ser) c.1238A>G (p.Asn413Ser) c.1208A>G (p.Asn403Ser) c.1082A>G (p.Asn361Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362857A>T | CA395299035 | IL4R | c.1505A>T (p.Asn502Ile) c.1460A>T (p.Asn487Ile) c.230-1246A>T (n.230-1246A>T) c.*1548A>T (n.*1548A>T) c.1025A>T (p.Asn342Ile) c.614A>T (p.Asn205Ile) c.554A>T (p.Asn185Ile) c.1238A>T (p.Asn413Ile) c.1208A>T (p.Asn403Ile) c.1082A>T (p.Asn361Ile) | |
16 | g.27362858C>A | CA395299036 | IL4R | c.1506C>A (p.Asn502Lys) c.1461C>A (p.Asn487Lys) c.230-1245C>A (n.230-1245C>A) c.*1549C>A (n.*1549C>A) c.1026C>A (p.Asn342Lys) c.615C>A (p.Asn205Lys) c.555C>A (p.Asn185Lys) c.1239C>A (p.Asn413Lys) c.1209C>A (p.Asn403Lys) c.1083C>A (p.Asn361Lys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362858C= | CA2215169874 | IL4R | c.1506C= (p.Asn502=) c.1461C= (p.Asn487=) c.230-1245C= (n.230-1245C=) c.*1549C= (n.*1549C=) c.1026C= (p.Asn342=) c.615C= (p.Asn205=) c.555C= (p.Asn185=) c.1239C= (p.Asn413=) c.1209C= (p.Asn403=) c.1083C= (p.Asn361=) | |
16 | g.27362858C>G | CA395299037 | IL4R | c.1506C>G (p.Asn502Lys) c.1461C>G (p.Asn487Lys) c.230-1245C>G (n.230-1245C>G) c.*1549C>G (n.*1549C>G) c.1026C>G (p.Asn342Lys) c.615C>G (p.Asn205Lys) c.555C>G (p.Asn185Lys) c.1239C>G (p.Asn413Lys) c.1209C>G (p.Asn403Lys) c.1083C>G (p.Asn361Lys) | |
16 | g.27362858C>T | CA494470171 | IL4R | c.1506C>T (p.Asn502=) c.1461C>T (p.Asn487=) c.230-1245C>T (n.230-1245C>T) c.*1549C>T (n.*1549C>T) c.1026C>T (p.Asn342=) c.615C>T (p.Asn205=) c.555C>T (p.Asn185=) c.1239C>T (p.Asn413=) c.1209C>T (p.Asn403=) c.1083C>T (p.Asn361=) | |
16 | g.27362859del | CA2632431260 | IL4R | c.1507del (p.Ser503ProfsTer2) c.1462del (p.Ser488ProfsTer2) c.230-1244del (n.230-1244del) c.*1550del (n.*1550del) c.1027del (p.Ser343ProfsTer2) c.616del (p.Ser206ProfsTer2) c.556del (p.Ser186ProfsTer2) c.1240del (p.Ser414ProfsTer2) c.1210del (p.Ser404ProfsTer2) c.1084del (p.Ser362ProfsTer2) | gnomAD v4 |
16 | g.27362859T>A | CA395299039 | IL4R | c.1507T>A (p.Ser503Thr) c.1462T>A (p.Ser488Thr) c.230-1244T>A (n.230-1244T>A) c.*1550T>A (n.*1550T>A) c.1027T>A (p.Ser343Thr) c.616T>A (p.Ser206Thr) c.556T>A (p.Ser186Thr) c.1240T>A (p.Ser414Thr) c.1210T>A (p.Ser404Thr) c.1084T>A (p.Ser362Thr) | |
16 | g.27362859T>C | CA124192 | IL4R | c.1507T>C (p.Ser503Pro) c.1462T>C (p.Ser488Pro) c.230-1244T>C (n.230-1244T>C) c.*1550T>C (n.*1550T>C) c.1027T>C (p.Ser343Pro) c.616T>C (p.Ser206Pro) c.556T>C (p.Ser186Pro) c.1240T>C (p.Ser414Pro) c.1210T>C (p.Ser404Pro) c.1084T>C (p.Ser362Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362859T>G | CA395299038 | IL4R | c.1507T>G (p.Ser503Ala) c.1462T>G (p.Ser488Ala) c.230-1244T>G (n.230-1244T>G) c.*1550T>G (n.*1550T>G) c.1027T>G (p.Ser343Ala) c.616T>G (p.Ser206Ala) c.556T>G (p.Ser186Ala) c.1240T>G (p.Ser414Ala) c.1210T>G (p.Ser404Ala) c.1084T>G (p.Ser362Ala) | |
16 | g.27362859T= | CA2215169879 | IL4R | c.1507T= (p.Ser503=) c.1462T= (p.Ser488=) c.230-1244T= (n.230-1244T=) c.*1550T= (n.*1550T=) c.1027T= (p.Ser343=) c.616T= (p.Ser206=) c.556T= (p.Ser186=) c.1240T= (p.Ser414=) c.1210T= (p.Ser404=) c.1084T= (p.Ser362=) | |
16 | g.27362860C>A | CA395299040 | IL4R | c.1508C>A (p.Ser503Tyr) c.1463C>A (p.Ser488Tyr) c.230-1243C>A (n.230-1243C>A) c.*1551C>A (n.*1551C>A) c.1028C>A (p.Ser343Tyr) c.617C>A (p.Ser206Tyr) c.557C>A (p.Ser186Tyr) c.1241C>A (p.Ser414Tyr) c.1211C>A (p.Ser404Tyr) c.1085C>A (p.Ser362Tyr) | |
16 | g.27362860C>G | CA395299041 | IL4R | c.1508C>G (p.Ser503Cys) c.1463C>G (p.Ser488Cys) c.230-1243C>G (n.230-1243C>G) c.*1551C>G (n.*1551C>G) c.1028C>G (p.Ser343Cys) c.617C>G (p.Ser206Cys) c.557C>G (p.Ser186Cys) c.1241C>G (p.Ser414Cys) c.1211C>G (p.Ser404Cys) c.1085C>G (p.Ser362Cys) | |
16 | g.27362860C>T | CA395299042 | IL4R | c.1508C>T (p.Ser503Phe) c.1463C>T (p.Ser488Phe) c.230-1243C>T (n.230-1243C>T) c.*1551C>T (n.*1551C>T) c.1028C>T (p.Ser343Phe) c.617C>T (p.Ser206Phe) c.557C>T (p.Ser186Phe) c.1241C>T (p.Ser414Phe) c.1211C>T (p.Ser404Phe) c.1085C>T (p.Ser362Phe) | gnomAD v4 COSMIC |
16 | g.27362861C>A | CA494470172 | IL4R | c.1509C>A (p.Ser503=) c.1464C>A (p.Ser488=) c.230-1242C>A (n.230-1242C>A) c.*1552C>A (n.*1552C>A) c.1029C>A (p.Ser343=) c.618C>A (p.Ser206=) c.558C>A (p.Ser186=) c.1242C>A (p.Ser414=) c.1212C>A (p.Ser404=) c.1086C>A (p.Ser362=) | |
16 | g.27362861C>G | CA494470173 | IL4R | c.1509C>G (p.Ser503=) c.1464C>G (p.Ser488=) c.230-1242C>G (n.230-1242C>G) c.*1552C>G (n.*1552C>G) c.1029C>G (p.Ser343=) c.618C>G (p.Ser206=) c.558C>G (p.Ser186=) c.1242C>G (p.Ser414=) c.1212C>G (p.Ser404=) c.1086C>G (p.Ser362=) | gnomAD v4 |
16 | g.27362861C>T | CA494470174 | IL4R | c.1509C>T (p.Ser503=) c.1464C>T (p.Ser488=) c.230-1242C>T (n.230-1242C>T) c.*1552C>T (n.*1552C>T) c.1029C>T (p.Ser343=) c.618C>T (p.Ser206=) c.558C>T (p.Ser186=) c.1242C>T (p.Ser414=) c.1212C>T (p.Ser404=) c.1086C>T (p.Ser362=) | |
16 | g.27362862C>A | CA395299043 | IL4R | c.1510C>A (p.Leu504Met) c.1465C>A (p.Leu489Met) c.230-1241C>A (n.230-1241C>A) c.*1553C>A (n.*1553C>A) c.1030C>A (p.Leu344Met) c.619C>A (p.Leu207Met) c.559C>A (p.Leu187Met) c.1243C>A (p.Leu415Met) c.1213C>A (p.Leu405Met) c.1087C>A (p.Leu363Met) | |
16 | g.27362862C= | CA2215169883 | IL4R | c.1510C= (p.Leu504=) c.1465C= (p.Leu489=) c.230-1241C= (n.230-1241C=) c.*1553C= (n.*1553C=) c.1030C= (p.Leu344=) c.619C= (p.Leu207=) c.559C= (p.Leu187=) c.1243C= (p.Leu415=) c.1213C= (p.Leu405=) c.1087C= (p.Leu363=) | |
16 | g.27362862C>G | CA7974582 | IL4R | c.1510C>G (p.Leu504Val) c.1465C>G (p.Leu489Val) c.230-1241C>G (n.230-1241C>G) c.*1553C>G (n.*1553C>G) c.1030C>G (p.Leu344Val) c.619C>G (p.Leu207Val) c.559C>G (p.Leu187Val) c.1243C>G (p.Leu415Val) c.1213C>G (p.Leu405Val) c.1087C>G (p.Leu363Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362862C>T | CA7974581 | IL4R | c.1510C>T (p.Leu504=) c.1465C>T (p.Leu489=) c.230-1241C>T (n.230-1241C>T) c.*1553C>T (n.*1553C>T) c.1030C>T (p.Leu344=) c.619C>T (p.Leu207=) c.559C>T (p.Leu187=) c.1243C>T (p.Leu415=) c.1213C>T (p.Leu405=) c.1087C>T (p.Leu363=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362863T>A | CA395299044 | IL4R | c.1511T>A (p.Leu504Gln) c.1466T>A (p.Leu489Gln) c.230-1240T>A (n.230-1240T>A) c.*1554T>A (n.*1554T>A) c.1031T>A (p.Leu344Gln) c.620T>A (p.Leu207Gln) c.560T>A (p.Leu187Gln) c.1244T>A (p.Leu415Gln) c.1214T>A (p.Leu405Gln) c.1088T>A (p.Leu363Gln) | dbSNP |
16 | g.27362863T>C | CA395299045 | IL4R | c.1511T>C (p.Leu504Pro) c.1466T>C (p.Leu489Pro) c.230-1240T>C (n.230-1240T>C) c.*1554T>C (n.*1554T>C) c.1031T>C (p.Leu344Pro) c.620T>C (p.Leu207Pro) c.560T>C (p.Leu187Pro) c.1244T>C (p.Leu415Pro) c.1214T>C (p.Leu405Pro) c.1088T>C (p.Leu363Pro) | gnomAD v4 |
16 | g.27362863T>G | CA395299046 | IL4R | c.1511T>G (p.Leu504Arg) c.1466T>G (p.Leu489Arg) c.230-1240T>G (n.230-1240T>G) c.*1554T>G (n.*1554T>G) c.1031T>G (p.Leu344Arg) c.620T>G (p.Leu207Arg) c.560T>G (p.Leu187Arg) c.1244T>G (p.Leu415Arg) c.1214T>G (p.Leu405Arg) c.1088T>G (p.Leu363Arg) | |
16 | g.27362864G>A | CA494470176 | IL4R | c.1512G>A (p.Leu504=) c.1467G>A (p.Leu489=) c.230-1239G>A (n.230-1239G>A) c.*1555G>A (n.*1555G>A) c.1032G>A (p.Leu344=) c.621G>A (p.Leu207=) c.561G>A (p.Leu187=) c.1245G>A (p.Leu415=) c.1215G>A (p.Leu405=) c.1089G>A (p.Leu363=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362864G>C | CA494470177 | IL4R | c.1512G>C (p.Leu504=) c.1467G>C (p.Leu489=) c.230-1239G>C (n.230-1239G>C) c.*1555G>C (n.*1555G>C) c.1032G>C (p.Leu344=) c.621G>C (p.Leu207=) c.561G>C (p.Leu187=) c.1245G>C (p.Leu415=) c.1215G>C (p.Leu405=) c.1089G>C (p.Leu363=) | dbSNP |
16 | g.27362864G= | CA2215169885 | IL4R | c.1512G= (p.Leu504=) c.1467G= (p.Leu489=) c.230-1239G= (n.230-1239G=) c.*1555G= (n.*1555G=) c.1032G= (p.Leu344=) c.621G= (p.Leu207=) c.561G= (p.Leu187=) c.1245G= (p.Leu415=) c.1215G= (p.Leu405=) c.1089G= (p.Leu363=) | |
16 | g.27362864G>T | CA494470175 | IL4R | c.1512G>T (p.Leu504=) c.1467G>T (p.Leu489=) c.230-1239G>T (n.230-1239G>T) c.*1555G>T (n.*1555G>T) c.1032G>T (p.Leu344=) c.621G>T (p.Leu207=) c.561G>T (p.Leu187=) c.1245G>T (p.Leu415=) c.1215G>T (p.Leu405=) c.1089G>T (p.Leu363=) | |
16 | g.27362865A>C | CA395299047 | IL4R | c.1513A>C (p.Ser505Arg) c.1468A>C (p.Ser490Arg) c.230-1238A>C (n.230-1238A>C) c.*1556A>C (n.*1556A>C) c.1033A>C (p.Ser345Arg) c.622A>C (p.Ser208Arg) c.562A>C (p.Ser188Arg) c.1246A>C (p.Ser416Arg) c.1216A>C (p.Ser406Arg) c.1090A>C (p.Ser364Arg) | |
16 | g.27362865A>G | CA395299048 | IL4R | c.1513A>G (p.Ser505Gly) c.1468A>G (p.Ser490Gly) c.230-1238A>G (n.230-1238A>G) c.*1556A>G (n.*1556A>G) c.1033A>G (p.Ser345Gly) c.622A>G (p.Ser208Gly) c.562A>G (p.Ser188Gly) c.1246A>G (p.Ser416Gly) c.1216A>G (p.Ser406Gly) c.1090A>G (p.Ser364Gly) | |
16 | g.27362865A>T | CA395299049 | IL4R | c.1513A>T (p.Ser505Cys) c.1468A>T (p.Ser490Cys) c.230-1238A>T (n.230-1238A>T) c.*1556A>T (n.*1556A>T) c.1033A>T (p.Ser345Cys) c.622A>T (p.Ser208Cys) c.562A>T (p.Ser188Cys) c.1246A>T (p.Ser416Cys) c.1216A>T (p.Ser406Cys) c.1090A>T (p.Ser364Cys) | |
16 | g.27362866G>A | CA395299050 | IL4R | c.1514G>A (p.Ser505Asn) c.1469G>A (p.Ser490Asn) c.230-1237G>A (n.230-1237G>A) c.*1557G>A (n.*1557G>A) c.1034G>A (p.Ser345Asn) c.623G>A (p.Ser208Asn) c.563G>A (p.Ser188Asn) c.1247G>A (p.Ser416Asn) c.1217G>A (p.Ser406Asn) c.1091G>A (p.Ser364Asn) | |
16 | g.27362866G>C | CA395299052 | IL4R | c.1514G>C (p.Ser505Thr) c.1469G>C (p.Ser490Thr) c.230-1237G>C (n.230-1237G>C) c.*1557G>C (n.*1557G>C) c.1034G>C (p.Ser345Thr) c.623G>C (p.Ser208Thr) c.563G>C (p.Ser188Thr) c.1247G>C (p.Ser416Thr) c.1217G>C (p.Ser406Thr) c.1091G>C (p.Ser364Thr) | |
16 | g.27362866G>T | CA395299051 | IL4R | c.1514G>T (p.Ser505Ile) c.1469G>T (p.Ser490Ile) c.230-1237G>T (n.230-1237G>T) c.*1557G>T (n.*1557G>T) c.1034G>T (p.Ser345Ile) c.623G>T (p.Ser208Ile) c.563G>T (p.Ser188Ile) c.1247G>T (p.Ser416Ile) c.1217G>T (p.Ser406Ile) c.1091G>T (p.Ser364Ile) | |
16 | g.27362867C>A | CA395299053 | IL4R | c.1515C>A (p.Ser505Arg) c.1470C>A (p.Ser490Arg) c.230-1236C>A (n.230-1236C>A) c.*1558C>A (n.*1558C>A) c.1035C>A (p.Ser345Arg) c.624C>A (p.Ser208Arg) c.564C>A (p.Ser188Arg) c.1248C>A (p.Ser416Arg) c.1218C>A (p.Ser406Arg) c.1092C>A (p.Ser364Arg) | |
16 | g.27362867C>G | CA395299054 | IL4R | c.1515C>G (p.Ser505Arg) c.1470C>G (p.Ser490Arg) c.230-1236C>G (n.230-1236C>G) c.*1558C>G (n.*1558C>G) c.1035C>G (p.Ser345Arg) c.624C>G (p.Ser208Arg) c.564C>G (p.Ser188Arg) c.1248C>G (p.Ser416Arg) c.1218C>G (p.Ser406Arg) c.1092C>G (p.Ser364Arg) | gnomAD v4 |
16 | g.27362867C>T | CA494470178 | IL4R | c.1515C>T (p.Ser505=) c.1470C>T (p.Ser490=) c.230-1236C>T (n.230-1236C>T) c.*1558C>T (n.*1558C>T) c.1035C>T (p.Ser345=) c.624C>T (p.Ser208=) c.564C>T (p.Ser188=) c.1248C>T (p.Ser416=) c.1218C>T (p.Ser406=) c.1092C>T (p.Ser364=) | |
16 | g.27362868C>A | CA395299055 | IL4R | c.1516C>A (p.Gln506Lys) c.1471C>A (p.Gln491Lys) c.230-1235C>A (n.230-1235C>A) c.*1559C>A (n.*1559C>A) c.1036C>A (p.Gln346Lys) c.625C>A (p.Gln209Lys) c.565C>A (p.Gln189Lys) c.1249C>A (p.Gln417Lys) c.1219C>A (p.Gln407Lys) c.1093C>A (p.Gln365Lys) | |
16 | g.27362868C>G | CA395299056 | IL4R | c.1516C>G (p.Gln506Glu) c.1471C>G (p.Gln491Glu) c.230-1235C>G (n.230-1235C>G) c.*1559C>G (n.*1559C>G) c.1036C>G (p.Gln346Glu) c.625C>G (p.Gln209Glu) c.565C>G (p.Gln189Glu) c.1249C>G (p.Gln417Glu) c.1219C>G (p.Gln407Glu) c.1093C>G (p.Gln365Glu) | |
16 | g.27362868C>T | CA395299057 | IL4R | c.1516C>T (p.Gln506Ter) c.1471C>T (p.Gln491Ter) c.230-1235C>T (n.230-1235C>T) c.*1559C>T (n.*1559C>T) c.1036C>T (p.Gln346Ter) c.625C>T (p.Gln209Ter) c.565C>T (p.Gln189Ter) c.1249C>T (p.Gln417Ter) c.1219C>T (p.Gln407Ter) c.1093C>T (p.Gln365Ter) | |
16 | g.27362869A>C | CA395299058 | IL4R | c.1517A>C (p.Gln506Pro) c.1472A>C (p.Gln491Pro) c.230-1234A>C (n.230-1234A>C) c.*1560A>C (n.*1560A>C) c.1037A>C (p.Gln346Pro) c.626A>C (p.Gln209Pro) c.566A>C (p.Gln189Pro) c.1250A>C (p.Gln417Pro) c.1220A>C (p.Gln407Pro) c.1094A>C (p.Gln365Pro) | |
16 | g.27362869A>G | CA395299059 | IL4R | c.1517A>G (p.Gln506Arg) c.1472A>G (p.Gln491Arg) c.230-1234A>G (n.230-1234A>G) c.*1560A>G (n.*1560A>G) c.1037A>G (p.Gln346Arg) c.626A>G (p.Gln209Arg) c.566A>G (p.Gln189Arg) c.1250A>G (p.Gln417Arg) c.1220A>G (p.Gln407Arg) c.1094A>G (p.Gln365Arg) | |
16 | g.27362869A>T | CA395299060 | IL4R | c.1517A>T (p.Gln506Leu) c.1472A>T (p.Gln491Leu) c.230-1234A>T (n.230-1234A>T) c.*1560A>T (n.*1560A>T) c.1037A>T (p.Gln346Leu) c.626A>T (p.Gln209Leu) c.566A>T (p.Gln189Leu) c.1250A>T (p.Gln417Leu) c.1220A>T (p.Gln407Leu) c.1094A>T (p.Gln365Leu) | |
16 | g.27362870G>A | CA494470179 | IL4R | c.1518G>A (p.Gln506=) c.1473G>A (p.Gln491=) c.230-1233G>A (n.230-1233G>A) c.*1561G>A (n.*1561G>A) c.1038G>A (p.Gln346=) c.627G>A (p.Gln209=) c.567G>A (p.Gln189=) c.1251G>A (p.Gln417=) c.1221G>A (p.Gln407=) c.1095G>A (p.Gln365=) | |
16 | g.27362870G>C | CA395299061 | IL4R | c.1518G>C (p.Gln506His) c.1473G>C (p.Gln491His) c.230-1233G>C (n.230-1233G>C) c.*1561G>C (n.*1561G>C) c.1038G>C (p.Gln346His) c.627G>C (p.Gln209His) c.567G>C (p.Gln189His) c.1251G>C (p.Gln417His) c.1221G>C (p.Gln407His) c.1095G>C (p.Gln365His) | |
16 | g.27362870G>T | CA395299062 | IL4R | c.1518G>T (p.Gln506His) c.1473G>T (p.Gln491His) c.230-1233G>T (n.230-1233G>T) c.*1561G>T (n.*1561G>T) c.1038G>T (p.Gln346His) c.627G>T (p.Gln209His) c.567G>T (p.Gln189His) c.1251G>T (p.Gln417His) c.1221G>T (p.Gln407His) c.1095G>T (p.Gln365His) | |
16 | g.27362871T>A | CA395299063 | IL4R | c.1519T>A (p.Ser507Thr) c.1474T>A (p.Ser492Thr) c.230-1232T>A (n.230-1232T>A) c.*1562T>A (n.*1562T>A) c.1039T>A (p.Ser347Thr) c.628T>A (p.Ser210Thr) c.568T>A (p.Ser190Thr) c.1252T>A (p.Ser418Thr) c.1222T>A (p.Ser408Thr) c.1096T>A (p.Ser366Thr) | |
16 | g.27362871T>C | CA395299064 | IL4R | c.1519T>C (p.Ser507Pro) c.1474T>C (p.Ser492Pro) c.230-1232T>C (n.230-1232T>C) c.*1562T>C (n.*1562T>C) c.1039T>C (p.Ser347Pro) c.628T>C (p.Ser210Pro) c.568T>C (p.Ser190Pro) c.1252T>C (p.Ser418Pro) c.1222T>C (p.Ser408Pro) c.1096T>C (p.Ser366Pro) | gnomAD v4 |
16 | g.27362871T>G | CA395299065 | IL4R | c.1519T>G (p.Ser507Ala) c.1474T>G (p.Ser492Ala) c.230-1232T>G (n.230-1232T>G) c.*1562T>G (n.*1562T>G) c.1039T>G (p.Ser347Ala) c.628T>G (p.Ser210Ala) c.568T>G (p.Ser190Ala) c.1252T>G (p.Ser418Ala) c.1222T>G (p.Ser408Ala) c.1096T>G (p.Ser366Ala) | |
16 | g.27362872C>A | CA395299066 | IL4R | c.1520C>A (p.Ser507Ter) c.1475C>A (p.Ser492Ter) c.230-1231C>A (n.230-1231C>A) c.*1563C>A (n.*1563C>A) c.1040C>A (p.Ser347Ter) c.629C>A (p.Ser210Ter) c.569C>A (p.Ser190Ter) c.1253C>A (p.Ser418Ter) c.1223C>A (p.Ser408Ter) c.1097C>A (p.Ser366Ter) | |
16 | g.27362872C= | CA2215169888 | IL4R | c.1520C= (p.Ser507=) c.1475C= (p.Ser492=) c.230-1231C= (n.230-1231C=) c.*1563C= (n.*1563C=) c.1040C= (p.Ser347=) c.629C= (p.Ser210=) c.569C= (p.Ser190=) c.1253C= (p.Ser418=) c.1223C= (p.Ser408=) c.1097C= (p.Ser366=) | |
16 | g.27362872C>G | CA395299068 | IL4R | c.1520C>G (p.Ser507Ter) c.1475C>G (p.Ser492Ter) c.230-1231C>G (n.230-1231C>G) c.*1563C>G (n.*1563C>G) c.1040C>G (p.Ser347Ter) c.629C>G (p.Ser210Ter) c.569C>G (p.Ser190Ter) c.1253C>G (p.Ser418Ter) c.1223C>G (p.Ser408Ter) c.1097C>G (p.Ser366Ter) | |
16 | g.27362872C>T | CA395299067 | IL4R | c.1520C>T (p.Ser507Leu) c.1475C>T (p.Ser492Leu) c.230-1231C>T (n.230-1231C>T) c.*1563C>T (n.*1563C>T) c.1040C>T (p.Ser347Leu) c.629C>T (p.Ser210Leu) c.569C>T (p.Ser190Leu) c.1253C>T (p.Ser418Leu) c.1223C>T (p.Ser408Leu) c.1097C>T (p.Ser366Leu) | dbSNP gnomAD v2 |
16 | g.27362873A>C | CA494470180 | IL4R | c.1521A>C (p.Ser507=) c.1476A>C (p.Ser492=) c.230-1230A>C (n.230-1230A>C) c.*1564A>C (n.*1564A>C) c.1041A>C (p.Ser347=) c.630A>C (p.Ser210=) c.570A>C (p.Ser190=) c.1254A>C (p.Ser418=) c.1224A>C (p.Ser408=) c.1098A>C (p.Ser366=) | |
16 | g.27362873A>G | CA494470181 | IL4R | c.1521A>G (p.Ser507=) c.1476A>G (p.Ser492=) c.230-1230A>G (n.230-1230A>G) c.*1564A>G (n.*1564A>G) c.1041A>G (p.Ser347=) c.630A>G (p.Ser210=) c.570A>G (p.Ser190=) c.1254A>G (p.Ser418=) c.1224A>G (p.Ser408=) c.1098A>G (p.Ser366=) | |
16 | g.27362873A>T | CA494470182 | IL4R | c.1521A>T (p.Ser507=) c.1476A>T (p.Ser492=) c.230-1230A>T (n.230-1230A>T) c.*1564A>T (n.*1564A>T) c.1041A>T (p.Ser347=) c.630A>T (p.Ser210=) c.570A>T (p.Ser190=) c.1254A>T (p.Ser418=) c.1224A>T (p.Ser408=) c.1098A>T (p.Ser366=) | |
16 | g.27362874C>A | CA395299069 | IL4R | c.1522C>A (p.Pro508Thr) c.1477C>A (p.Pro493Thr) c.230-1229C>A (n.230-1229C>A) c.*1565C>A (n.*1565C>A) c.1042C>A (p.Pro348Thr) c.631C>A (p.Pro211Thr) c.571C>A (p.Pro191Thr) c.1255C>A (p.Pro419Thr) c.1225C>A (p.Pro409Thr) c.1099C>A (p.Pro367Thr) | |
16 | g.27362874C= | CA2215169893 | IL4R | c.1522C= (p.Pro508=) c.1477C= (p.Pro493=) c.230-1229C= (n.230-1229C=) c.*1565C= (n.*1565C=) c.1042C= (p.Pro348=) c.631C= (p.Pro211=) c.571C= (p.Pro191=) c.1255C= (p.Pro419=) c.1225C= (p.Pro409=) c.1099C= (p.Pro367=) | |
16 | g.27362874C>G | CA395299070 | IL4R | c.1522C>G (p.Pro508Ala) c.1477C>G (p.Pro493Ala) c.230-1229C>G (n.230-1229C>G) c.*1565C>G (n.*1565C>G) c.1042C>G (p.Pro348Ala) c.631C>G (p.Pro211Ala) c.571C>G (p.Pro191Ala) c.1255C>G (p.Pro419Ala) c.1225C>G (p.Pro409Ala) c.1099C>G (p.Pro367Ala) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362874C>T | CA395299071 | IL4R | c.1522C>T (p.Pro508Ser) c.1477C>T (p.Pro493Ser) c.230-1229C>T (n.230-1229C>T) c.*1565C>T (n.*1565C>T) c.1042C>T (p.Pro348Ser) c.631C>T (p.Pro211Ser) c.571C>T (p.Pro191Ser) c.1255C>T (p.Pro419Ser) c.1225C>T (p.Pro409Ser) c.1099C>T (p.Pro367Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362875C>A | CA395299072 | IL4R | c.1523C>A (p.Pro508Gln) c.1478C>A (p.Pro493Gln) c.230-1228C>A (n.230-1228C>A) c.*1566C>A (n.*1566C>A) c.1043C>A (p.Pro348Gln) c.632C>A (p.Pro211Gln) c.572C>A (p.Pro191Gln) c.1256C>A (p.Pro419Gln) c.1226C>A (p.Pro409Gln) c.1100C>A (p.Pro367Gln) | |
16 | g.27362875C= | CA2215169895 | IL4R | c.1523C= (p.Pro508=) c.1478C= (p.Pro493=) c.230-1228C= (n.230-1228C=) c.*1566C= (n.*1566C=) c.1043C= (p.Pro348=) c.632C= (p.Pro211=) c.572C= (p.Pro191=) c.1256C= (p.Pro419=) c.1226C= (p.Pro409=) c.1100C= (p.Pro367=) | |
16 | g.27362875C>G | CA395299073 | IL4R | c.1523C>G (p.Pro508Arg) c.1478C>G (p.Pro493Arg) c.230-1228C>G (n.230-1228C>G) c.*1566C>G (n.*1566C>G) c.1043C>G (p.Pro348Arg) c.632C>G (p.Pro211Arg) c.572C>G (p.Pro191Arg) c.1256C>G (p.Pro419Arg) c.1226C>G (p.Pro409Arg) c.1100C>G (p.Pro367Arg) | |
16 | g.27362875C>T | CA7974583 | IL4R | c.1523C>T (p.Pro508Leu) c.1478C>T (p.Pro493Leu) c.230-1228C>T (n.230-1228C>T) c.*1566C>T (n.*1566C>T) c.1043C>T (p.Pro348Leu) c.632C>T (p.Pro211Leu) c.572C>T (p.Pro191Leu) c.1256C>T (p.Pro419Leu) c.1226C>T (p.Pro409Leu) c.1100C>T (p.Pro367Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362876G>A | CA7974584 | IL4R | c.1524G>A (p.Pro508=) c.1479G>A (p.Pro493=) c.230-1227G>A (n.230-1227G>A) c.*1567G>A (n.*1567G>A) c.1044G>A (p.Pro348=) c.633G>A (p.Pro211=) c.573G>A (p.Pro191=) c.1257G>A (p.Pro419=) c.1227G>A (p.Pro409=) c.1101G>A (p.Pro367=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362876G>C | CA494470183 | IL4R | c.1524G>C (p.Pro508=) c.1479G>C (p.Pro493=) c.230-1227G>C (n.230-1227G>C) c.*1567G>C (n.*1567G>C) c.1044G>C (p.Pro348=) c.633G>C (p.Pro211=) c.573G>C (p.Pro191=) c.1257G>C (p.Pro419=) c.1227G>C (p.Pro409=) c.1101G>C (p.Pro367=) | |
16 | g.27362876G= | CA2215169897 | IL4R | c.1524G= (p.Pro508=) c.1479G= (p.Pro493=) c.230-1227G= (n.230-1227G=) c.*1567G= (n.*1567G=) c.1044G= (p.Pro348=) c.633G= (p.Pro211=) c.573G= (p.Pro191=) c.1257G= (p.Pro419=) c.1227G= (p.Pro409=) c.1101G= (p.Pro367=) | |
16 | g.27362876G>T | CA494470184 | IL4R | c.1524G>T (p.Pro508=) c.1479G>T (p.Pro493=) c.230-1227G>T (n.230-1227G>T) c.*1567G>T (n.*1567G>T) c.1044G>T (p.Pro348=) c.633G>T (p.Pro211=) c.573G>T (p.Pro191=) c.1257G>T (p.Pro419=) c.1227G>T (p.Pro409=) c.1101G>T (p.Pro367=) | |
16 | g.27362877T>A | CA395299074 | IL4R | c.1525T>A (p.Cys509Ser) c.1480T>A (p.Cys494Ser) c.230-1226T>A (n.230-1226T>A) c.*1568T>A (n.*1568T>A) c.1045T>A (p.Cys349Ser) c.634T>A (p.Cys212Ser) c.574T>A (p.Cys192Ser) c.1258T>A (p.Cys420Ser) c.1228T>A (p.Cys410Ser) c.1102T>A (p.Cys368Ser) | dbSNP gnomAD v4 |
16 | g.27362877T>C | CA395299075 | IL4R | c.1525T>C (p.Cys509Arg) c.1480T>C (p.Cys494Arg) c.230-1226T>C (n.230-1226T>C) c.*1568T>C (n.*1568T>C) c.1045T>C (p.Cys349Arg) c.634T>C (p.Cys212Arg) c.574T>C (p.Cys192Arg) c.1258T>C (p.Cys420Arg) c.1228T>C (p.Cys410Arg) c.1102T>C (p.Cys368Arg) | dbSNP |
16 | g.27362877T>G | CA395299076 | IL4R | c.1525T>G (p.Cys509Gly) c.1480T>G (p.Cys494Gly) c.230-1226T>G (n.230-1226T>G) c.*1568T>G (n.*1568T>G) c.1045T>G (p.Cys349Gly) c.634T>G (p.Cys212Gly) c.574T>G (p.Cys192Gly) c.1258T>G (p.Cys420Gly) c.1228T>G (p.Cys410Gly) c.1102T>G (p.Cys368Gly) | |
16 | g.27362877T= | CA2215169898 | IL4R | c.1525T= (p.Cys509=) c.1480T= (p.Cys494=) c.230-1226T= (n.230-1226T=) c.*1568T= (n.*1568T=) c.1045T= (p.Cys349=) c.634T= (p.Cys212=) c.574T= (p.Cys192=) c.1258T= (p.Cys420=) c.1228T= (p.Cys410=) c.1102T= (p.Cys368=) | |
16 | g.27362878G>A | CA395299078 | IL4R | c.1526G>A (p.Cys509Tyr) c.1481G>A (p.Cys494Tyr) c.230-1225G>A (n.230-1225G>A) c.*1569G>A (n.*1569G>A) c.1046G>A (p.Cys349Tyr) c.635G>A (p.Cys212Tyr) c.575G>A (p.Cys192Tyr) c.1259G>A (p.Cys420Tyr) c.1229G>A (p.Cys410Tyr) c.1103G>A (p.Cys368Tyr) | |
16 | g.27362878G>C | CA395299079 | IL4R | c.1526G>C (p.Cys509Ser) c.1481G>C (p.Cys494Ser) c.230-1225G>C (n.230-1225G>C) c.*1569G>C (n.*1569G>C) c.1046G>C (p.Cys349Ser) c.635G>C (p.Cys212Ser) c.575G>C (p.Cys192Ser) c.1259G>C (p.Cys420Ser) c.1229G>C (p.Cys410Ser) c.1103G>C (p.Cys368Ser) | |
16 | g.27362878G>T | CA395299077 | IL4R | c.1526G>T (p.Cys509Phe) c.1481G>T (p.Cys494Phe) c.230-1225G>T (n.230-1225G>T) c.*1569G>T (n.*1569G>T) c.1046G>T (p.Cys349Phe) c.635G>T (p.Cys212Phe) c.575G>T (p.Cys192Phe) c.1259G>T (p.Cys420Phe) c.1229G>T (p.Cys410Phe) c.1103G>T (p.Cys368Phe) | |
16 | g.27362879T>A | CA395299081 | IL4R | c.1527T>A (p.Cys509Ter) c.1482T>A (p.Cys494Ter) c.230-1224T>A (n.230-1224T>A) c.*1570T>A (n.*1570T>A) c.1047T>A (p.Cys349Ter) c.636T>A (p.Cys212Ter) c.576T>A (p.Cys192Ter) c.1260T>A (p.Cys420Ter) c.1230T>A (p.Cys410Ter) c.1104T>A (p.Cys368Ter) | |
16 | g.27362879T>C | CA494470185 | IL4R | c.1527T>C (p.Cys509=) c.1482T>C (p.Cys494=) c.230-1224T>C (n.230-1224T>C) c.*1570T>C (n.*1570T>C) c.1047T>C (p.Cys349=) c.636T>C (p.Cys212=) c.576T>C (p.Cys192=) c.1260T>C (p.Cys420=) c.1230T>C (p.Cys410=) c.1104T>C (p.Cys368=) | |
16 | g.27362879T>G | CA395299080 | IL4R | c.1527T>G (p.Cys509Trp) c.1482T>G (p.Cys494Trp) c.230-1224T>G (n.230-1224T>G) c.*1570T>G (n.*1570T>G) c.1047T>G (p.Cys349Trp) c.636T>G (p.Cys212Trp) c.576T>G (p.Cys192Trp) c.1260T>G (p.Cys420Trp) c.1230T>G (p.Cys410Trp) c.1104T>G (p.Cys368Trp) | |
16 | g.27362880C>A | CA395299082 | IL4R | c.1528C>A (p.Pro510Thr) c.1483C>A (p.Pro495Thr) c.230-1223C>A (n.230-1223C>A) c.*1571C>A (n.*1571C>A) c.1048C>A (p.Pro350Thr) c.637C>A (p.Pro213Thr) c.577C>A (p.Pro193Thr) c.1261C>A (p.Pro421Thr) c.1231C>A (p.Pro411Thr) c.1105C>A (p.Pro369Thr) | |
16 | g.27362880C>G | CA395299083 | IL4R | c.1528C>G (p.Pro510Ala) c.1483C>G (p.Pro495Ala) c.230-1223C>G (n.230-1223C>G) c.*1571C>G (n.*1571C>G) c.1048C>G (p.Pro350Ala) c.637C>G (p.Pro213Ala) c.577C>G (p.Pro193Ala) c.1261C>G (p.Pro421Ala) c.1231C>G (p.Pro411Ala) c.1105C>G (p.Pro369Ala) | |
16 | g.27362880C>T | CA395299084 | IL4R | c.1528C>T (p.Pro510Ser) c.1483C>T (p.Pro495Ser) c.230-1223C>T (n.230-1223C>T) c.*1571C>T (n.*1571C>T) c.1048C>T (p.Pro350Ser) c.637C>T (p.Pro213Ser) c.577C>T (p.Pro193Ser) c.1261C>T (p.Pro421Ser) c.1231C>T (p.Pro411Ser) c.1105C>T (p.Pro369Ser) | |
16 | g.27362881C>A | CA395299085 | IL4R | c.1529C>A (p.Pro510His) c.1484C>A (p.Pro495His) c.230-1222C>A (n.230-1222C>A) c.*1572C>A (n.*1572C>A) c.1049C>A (p.Pro350His) c.638C>A (p.Pro213His) c.578C>A (p.Pro193His) c.1262C>A (p.Pro421His) c.1232C>A (p.Pro411His) c.1106C>A (p.Pro369His) | |
16 | g.27362881C>G | CA395299086 | IL4R | c.1529C>G (p.Pro510Arg) c.1484C>G (p.Pro495Arg) c.230-1222C>G (n.230-1222C>G) c.*1572C>G (n.*1572C>G) c.1049C>G (p.Pro350Arg) c.638C>G (p.Pro213Arg) c.578C>G (p.Pro193Arg) c.1262C>G (p.Pro421Arg) c.1232C>G (p.Pro411Arg) c.1106C>G (p.Pro369Arg) | |
16 | g.27362881C>T | CA395299087 | IL4R | c.1529C>T (p.Pro510Leu) c.1484C>T (p.Pro495Leu) c.230-1222C>T (n.230-1222C>T) c.*1572C>T (n.*1572C>T) c.1049C>T (p.Pro350Leu) c.638C>T (p.Pro213Leu) c.578C>T (p.Pro193Leu) c.1262C>T (p.Pro421Leu) c.1232C>T (p.Pro411Leu) c.1106C>T (p.Pro369Leu) | |
16 | g.27362882C>A | CA494470188 | IL4R | c.1530C>A (p.Pro510=) c.1485C>A (p.Pro495=) c.230-1221C>A (n.230-1221C>A) c.*1573C>A (n.*1573C>A) c.1050C>A (p.Pro350=) c.639C>A (p.Pro213=) c.579C>A (p.Pro193=) c.1263C>A (p.Pro421=) c.1233C>A (p.Pro411=) c.1107C>A (p.Pro369=) | |
16 | g.27362882C>G | CA494470186 | IL4R | c.1530C>G (p.Pro510=) c.1485C>G (p.Pro495=) c.230-1221C>G (n.230-1221C>G) c.*1573C>G (n.*1573C>G) c.1050C>G (p.Pro350=) c.639C>G (p.Pro213=) c.579C>G (p.Pro193=) c.1263C>G (p.Pro421=) c.1233C>G (p.Pro411=) c.1107C>G (p.Pro369=) | |
16 | g.27362882C>T | CA494470187 | IL4R | c.1530C>T (p.Pro510=) c.1485C>T (p.Pro495=) c.230-1221C>T (n.230-1221C>T) c.*1573C>T (n.*1573C>T) c.1050C>T (p.Pro350=) c.639C>T (p.Pro213=) c.579C>T (p.Pro193=) c.1263C>T (p.Pro421=) c.1233C>T (p.Pro411=) c.1107C>T (p.Pro369=) | |
16 | g.27362883A>C | CA494470189 | IL4R | c.1531A>C (p.Arg511=) c.1486A>C (p.Arg496=) c.230-1220A>C (n.230-1220A>C) c.*1574A>C (n.*1574A>C) c.1051A>C (p.Arg351=) c.640A>C (p.Arg214=) c.580A>C (p.Arg194=) c.1264A>C (p.Arg422=) c.1234A>C (p.Arg412=) c.1108A>C (p.Arg370=) | |
16 | g.27362883A>G | CA395299088 | IL4R | c.1531A>G (p.Arg511Gly) c.1486A>G (p.Arg496Gly) c.230-1220A>G (n.230-1220A>G) c.*1574A>G (n.*1574A>G) c.1051A>G (p.Arg351Gly) c.640A>G (p.Arg214Gly) c.580A>G (p.Arg194Gly) c.1264A>G (p.Arg422Gly) c.1234A>G (p.Arg412Gly) c.1108A>G (p.Arg370Gly) | |
16 | g.27362883A>T | CA395299089 | IL4R | c.1531A>T (p.Arg511Ter) c.1486A>T (p.Arg496Ter) c.230-1220A>T (n.230-1220A>T) c.*1574A>T (n.*1574A>T) c.1051A>T (p.Arg351Ter) c.640A>T (p.Arg214Ter) c.580A>T (p.Arg194Ter) c.1264A>T (p.Arg422Ter) c.1234A>T (p.Arg412Ter) c.1108A>T (p.Arg370Ter) | |
16 | g.27362884G>A | CA395299090 | IL4R | c.1532G>A (p.Arg511Lys) c.1487G>A (p.Arg496Lys) c.230-1219G>A (n.230-1219G>A) c.*1575G>A (n.*1575G>A) c.1052G>A (p.Arg351Lys) c.641G>A (p.Arg214Lys) c.581G>A (p.Arg194Lys) c.1265G>A (p.Arg422Lys) c.1235G>A (p.Arg412Lys) c.1109G>A (p.Arg370Lys) | |
16 | g.27362884G>C | CA395299091 | IL4R | c.1532G>C (p.Arg511Thr) c.1487G>C (p.Arg496Thr) c.230-1219G>C (n.230-1219G>C) c.*1575G>C (n.*1575G>C) c.1052G>C (p.Arg351Thr) c.641G>C (p.Arg214Thr) c.581G>C (p.Arg194Thr) c.1265G>C (p.Arg422Thr) c.1235G>C (p.Arg412Thr) c.1109G>C (p.Arg370Thr) | |
16 | g.27362884G>T | CA395299092 | IL4R | c.1532G>T (p.Arg511Ile) c.1487G>T (p.Arg496Ile) c.230-1219G>T (n.230-1219G>T) c.*1575G>T (n.*1575G>T) c.1052G>T (p.Arg351Ile) c.641G>T (p.Arg214Ile) c.581G>T (p.Arg194Ile) c.1265G>T (p.Arg422Ile) c.1235G>T (p.Arg412Ile) c.1109G>T (p.Arg370Ile) | |
16 | g.27362885A= | CA2215169900 | IL4R | c.1533A= (p.Arg511=) c.1488A= (p.Arg496=) c.230-1218A= (n.230-1218A=) c.*1576A= (n.*1576A=) c.1053A= (p.Arg351=) c.642A= (p.Arg214=) c.582A= (p.Arg194=) c.1266A= (p.Arg422=) c.1236A= (p.Arg412=) c.1110A= (p.Arg370=) | |
16 | g.27362885A>C | CA7974585 | IL4R | c.1533A>C (p.Arg511Ser) c.1488A>C (p.Arg496Ser) c.230-1218A>C (n.230-1218A>C) c.*1576A>C (n.*1576A>C) c.1053A>C (p.Arg351Ser) c.642A>C (p.Arg214Ser) c.582A>C (p.Arg194Ser) c.1266A>C (p.Arg422Ser) c.1236A>C (p.Arg412Ser) c.1110A>C (p.Arg370Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362885A>G | CA494470190 | IL4R | c.1533A>G (p.Arg511=) c.1488A>G (p.Arg496=) c.230-1218A>G (n.230-1218A>G) c.*1576A>G (n.*1576A>G) c.1053A>G (p.Arg351=) c.642A>G (p.Arg214=) c.582A>G (p.Arg194=) c.1266A>G (p.Arg422=) c.1236A>G (p.Arg412=) c.1110A>G (p.Arg370=) | |
16 | g.27362885A>T | CA395299093 | IL4R | c.1533A>T (p.Arg511Ser) c.1488A>T (p.Arg496Ser) c.230-1218A>T (n.230-1218A>T) c.*1576A>T (n.*1576A>T) c.1053A>T (p.Arg351Ser) c.642A>T (p.Arg214Ser) c.582A>T (p.Arg194Ser) c.1266A>T (p.Arg422Ser) c.1236A>T (p.Arg412Ser) c.1110A>T (p.Arg370Ser) | |
16 | g.27362886G>A | CA395299094 | IL4R | c.1534G>A (p.Glu512Lys) c.1489G>A (p.Glu497Lys) c.230-1217G>A (n.230-1217G>A) c.*1577G>A (n.*1577G>A) c.1054G>A (p.Glu352Lys) c.643G>A (p.Glu215Lys) c.583G>A (p.Glu195Lys) c.1267G>A (p.Glu423Lys) c.1237G>A (p.Glu413Lys) c.1111G>A (p.Glu371Lys) | |
16 | g.27362886G>C | CA395299096 | IL4R | c.1534G>C (p.Glu512Gln) c.1489G>C (p.Glu497Gln) c.230-1217G>C (n.230-1217G>C) c.*1577G>C (n.*1577G>C) c.1054G>C (p.Glu352Gln) c.643G>C (p.Glu215Gln) c.583G>C (p.Glu195Gln) c.1267G>C (p.Glu423Gln) c.1237G>C (p.Glu413Gln) c.1111G>C (p.Glu371Gln) | |
16 | g.27362886G>T | CA395299095 | IL4R | c.1534G>T (p.Glu512Ter) c.1489G>T (p.Glu497Ter) c.230-1217G>T (n.230-1217G>T) c.*1577G>T (n.*1577G>T) c.1054G>T (p.Glu352Ter) c.643G>T (p.Glu215Ter) c.583G>T (p.Glu195Ter) c.1267G>T (p.Glu423Ter) c.1237G>T (p.Glu413Ter) c.1111G>T (p.Glu371Ter) | |
16 | g.27362887A>C | CA395299097 | IL4R | c.1535A>C (p.Glu512Ala) c.1490A>C (p.Glu497Ala) c.230-1216A>C (n.230-1216A>C) c.*1578A>C (n.*1578A>C) c.1055A>C (p.Glu352Ala) c.644A>C (p.Glu215Ala) c.584A>C (p.Glu195Ala) c.1268A>C (p.Glu423Ala) c.1238A>C (p.Glu413Ala) c.1112A>C (p.Glu371Ala) | |
16 | g.27362887A>G | CA395299098 | IL4R | c.1535A>G (p.Glu512Gly) c.1490A>G (p.Glu497Gly) c.230-1216A>G (n.230-1216A>G) c.*1578A>G (n.*1578A>G) c.1055A>G (p.Glu352Gly) c.644A>G (p.Glu215Gly) c.584A>G (p.Glu195Gly) c.1268A>G (p.Glu423Gly) c.1238A>G (p.Glu413Gly) c.1112A>G (p.Glu371Gly) | |
16 | g.27362887A>T | CA395299099 | IL4R | c.1535A>T (p.Glu512Val) c.1490A>T (p.Glu497Val) c.230-1216A>T (n.230-1216A>T) c.*1578A>T (n.*1578A>T) c.1055A>T (p.Glu352Val) c.644A>T (p.Glu215Val) c.584A>T (p.Glu195Val) c.1268A>T (p.Glu423Val) c.1238A>T (p.Glu413Val) c.1112A>T (p.Glu371Val) | |
16 | g.27362888G>A | CA494470191 | IL4R | c.1536G>A (p.Glu512=) c.1491G>A (p.Glu497=) c.230-1215G>A (n.230-1215G>A) c.*1579G>A (n.*1579G>A) c.1056G>A (p.Glu352=) c.645G>A (p.Glu215=) c.585G>A (p.Glu195=) c.1269G>A (p.Glu423=) c.1239G>A (p.Glu413=) c.1113G>A (p.Glu371=) | gnomAD v4 |
16 | g.27362888G>C | CA395299100 | IL4R | c.1536G>C (p.Glu512Asp) c.1491G>C (p.Glu497Asp) c.230-1215G>C (n.230-1215G>C) c.*1579G>C (n.*1579G>C) c.1056G>C (p.Glu352Asp) c.645G>C (p.Glu215Asp) c.585G>C (p.Glu195Asp) c.1269G>C (p.Glu423Asp) c.1239G>C (p.Glu413Asp) c.1113G>C (p.Glu371Asp) | |
16 | g.27362888G>T | CA395299101 | IL4R | c.1536G>T (p.Glu512Asp) c.1491G>T (p.Glu497Asp) c.230-1215G>T (n.230-1215G>T) c.*1579G>T (n.*1579G>T) c.1056G>T (p.Glu352Asp) c.645G>T (p.Glu215Asp) c.585G>T (p.Glu195Asp) c.1269G>T (p.Glu423Asp) c.1239G>T (p.Glu413Asp) c.1113G>T (p.Glu371Asp) | |
16 | g.27362889C>A | CA395299102 | IL4R | c.1537C>A (p.Leu513Met) c.1492C>A (p.Leu498Met) c.230-1214C>A (n.230-1214C>A) c.*1580C>A (n.*1580C>A) c.1057C>A (p.Leu353Met) c.646C>A (p.Leu216Met) c.586C>A (p.Leu196Met) c.1270C>A (p.Leu424Met) c.1240C>A (p.Leu414Met) c.1114C>A (p.Leu372Met) | dbSNP gnomAD v4 |
16 | g.27362889C= | CA2215169903 | IL4R | c.1537C= (p.Leu513=) c.1492C= (p.Leu498=) c.230-1214C= (n.230-1214C=) c.*1580C= (n.*1580C=) c.1057C= (p.Leu353=) c.646C= (p.Leu216=) c.586C= (p.Leu196=) c.1270C= (p.Leu424=) c.1240C= (p.Leu414=) c.1114C= (p.Leu372=) | |
16 | g.27362889C>G | CA395299103 | IL4R | c.1537C>G (p.Leu513Val) c.1492C>G (p.Leu498Val) c.230-1214C>G (n.230-1214C>G) c.*1580C>G (n.*1580C>G) c.1057C>G (p.Leu353Val) c.646C>G (p.Leu216Val) c.586C>G (p.Leu196Val) c.1270C>G (p.Leu424Val) c.1240C>G (p.Leu414Val) c.1114C>G (p.Leu372Val) | |
16 | g.27362889C>T | CA494470192 | IL4R | c.1537C>T (p.Leu513=) c.1492C>T (p.Leu498=) c.230-1214C>T (n.230-1214C>T) c.*1580C>T (n.*1580C>T) c.1057C>T (p.Leu353=) c.646C>T (p.Leu216=) c.586C>T (p.Leu196=) c.1270C>T (p.Leu424=) c.1240C>T (p.Leu414=) c.1114C>T (p.Leu372=) | gnomAD v4 |
16 | g.27362890T>A | CA395299104 | IL4R | c.1538T>A (p.Leu513Gln) c.1493T>A (p.Leu498Gln) c.230-1213T>A (n.230-1213T>A) c.*1581T>A (n.*1581T>A) c.1058T>A (p.Leu353Gln) c.647T>A (p.Leu216Gln) c.587T>A (p.Leu196Gln) c.1271T>A (p.Leu424Gln) c.1241T>A (p.Leu414Gln) c.1115T>A (p.Leu372Gln) | |
16 | g.27362890T>C | CA395299105 | IL4R | c.1538T>C (p.Leu513Pro) c.1493T>C (p.Leu498Pro) c.230-1213T>C (n.230-1213T>C) c.*1581T>C (n.*1581T>C) c.1058T>C (p.Leu353Pro) c.647T>C (p.Leu216Pro) c.587T>C (p.Leu196Pro) c.1271T>C (p.Leu424Pro) c.1241T>C (p.Leu414Pro) c.1115T>C (p.Leu372Pro) | |
16 | g.27362890T>G | CA395299106 | IL4R | c.1538T>G (p.Leu513Arg) c.1493T>G (p.Leu498Arg) c.230-1213T>G (n.230-1213T>G) c.*1581T>G (n.*1581T>G) c.1058T>G (p.Leu353Arg) c.647T>G (p.Leu216Arg) c.587T>G (p.Leu196Arg) c.1271T>G (p.Leu424Arg) c.1241T>G (p.Leu414Arg) c.1115T>G (p.Leu372Arg) | |
16 | g.27362891G>A | CA494470194 | IL4R | c.1539G>A (p.Leu513=) c.1494G>A (p.Leu498=) c.230-1212G>A (n.230-1212G>A) c.*1582G>A (n.*1582G>A) c.1059G>A (p.Leu353=) c.648G>A (p.Leu216=) c.588G>A (p.Leu196=) c.1272G>A (p.Leu424=) c.1242G>A (p.Leu414=) c.1116G>A (p.Leu372=) | |
16 | g.27362891G>C | CA7974586 | IL4R | c.1539G>C (p.Leu513=) c.1494G>C (p.Leu498=) c.230-1212G>C (n.230-1212G>C) c.*1582G>C (n.*1582G>C) c.1059G>C (p.Leu353=) c.648G>C (p.Leu216=) c.588G>C (p.Leu196=) c.1272G>C (p.Leu424=) c.1242G>C (p.Leu414=) c.1116G>C (p.Leu372=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362891G= | CA2215169904 | IL4R | c.1539G= (p.Leu513=) c.1494G= (p.Leu498=) c.230-1212G= (n.230-1212G=) c.*1582G= (n.*1582G=) c.1059G= (p.Leu353=) c.648G= (p.Leu216=) c.588G= (p.Leu196=) c.1272G= (p.Leu424=) c.1242G= (p.Leu414=) c.1116G= (p.Leu372=) | |
16 | g.27362891G>T | CA494470193 | IL4R | c.1539G>T (p.Leu513=) c.1494G>T (p.Leu498=) c.230-1212G>T (n.230-1212G>T) c.*1582G>T (n.*1582G>T) c.1059G>T (p.Leu353=) c.648G>T (p.Leu216=) c.588G>T (p.Leu196=) c.1272G>T (p.Leu424=) c.1242G>T (p.Leu414=) c.1116G>T (p.Leu372=) | gnomAD v4 |
16 | g.27362892_27362893dup | CA2806368039 | IL4R | c.1540_1541dup (p.Pro515ValfsTer13) c.1495_1496dup (p.Pro500ValfsTer13) c.230-1211_230-1210dup (n.230-1211_230-1210dup) c.*1583_*1584dup (n.*1583_*1584dup) c.1060_1061dup (p.Pro355ValfsTer13) c.649_650dup (p.Pro218ValfsTer13) c.589_590dup (p.Pro198ValfsTer13) c.1273_1274dup (p.Pro426ValfsTer13) c.1243_1244dup (p.Pro416ValfsTer13) c.1117_1118dup (p.Pro374ValfsTer13) | |
16 | g.27362892G>A | CA279686993 | IL4R | c.1540G>A (p.Gly514Ser) c.1495G>A (p.Gly499Ser) c.230-1211G>A (n.230-1211G>A) c.*1583G>A (n.*1583G>A) c.1060G>A (p.Gly354Ser) c.649G>A (p.Gly217Ser) c.589G>A (p.Gly197Ser) c.1273G>A (p.Gly425Ser) c.1243G>A (p.Gly415Ser) c.1117G>A (p.Gly373Ser) | dbSNP gnomAD v4 |
16 | g.27362892G>C | CA395299108 | IL4R | c.1540G>C (p.Gly514Arg) c.1495G>C (p.Gly499Arg) c.230-1211G>C (n.230-1211G>C) c.*1583G>C (n.*1583G>C) c.1060G>C (p.Gly354Arg) c.649G>C (p.Gly217Arg) c.589G>C (p.Gly197Arg) c.1273G>C (p.Gly425Arg) c.1243G>C (p.Gly415Arg) c.1117G>C (p.Gly373Arg) | |
16 | g.27362892G= | CA2215169905 | IL4R | c.1540G= (p.Gly514=) c.1495G= (p.Gly499=) c.230-1211G= (n.230-1211G=) c.*1583G= (n.*1583G=) c.1060G= (p.Gly354=) c.649G= (p.Gly217=) c.589G= (p.Gly197=) c.1273G= (p.Gly425=) c.1243G= (p.Gly415=) c.1117G= (p.Gly373=) | |
16 | g.27362892G>T | CA395299107 | IL4R | c.1540G>T (p.Gly514Cys) c.1495G>T (p.Gly499Cys) c.230-1211G>T (n.230-1211G>T) c.*1583G>T (n.*1583G>T) c.1060G>T (p.Gly354Cys) c.649G>T (p.Gly217Cys) c.589G>T (p.Gly197Cys) c.1273G>T (p.Gly425Cys) c.1243G>T (p.Gly415Cys) c.1117G>T (p.Gly373Cys) | dbSNP |
16 | g.27362893G>A | CA395299109 | IL4R | c.1541G>A (p.Gly514Asp) c.1496G>A (p.Gly499Asp) c.230-1210G>A (n.230-1210G>A) c.*1584G>A (n.*1584G>A) c.1061G>A (p.Gly354Asp) c.650G>A (p.Gly217Asp) c.590G>A (p.Gly197Asp) c.1274G>A (p.Gly425Asp) c.1244G>A (p.Gly415Asp) c.1118G>A (p.Gly373Asp) | gnomAD v4 |
16 | g.27362893G>C | CA395299110 | IL4R | c.1541G>C (p.Gly514Ala) c.1496G>C (p.Gly499Ala) c.230-1210G>C (n.230-1210G>C) c.*1584G>C (n.*1584G>C) c.1061G>C (p.Gly354Ala) c.650G>C (p.Gly217Ala) c.590G>C (p.Gly197Ala) c.1274G>C (p.Gly425Ala) c.1244G>C (p.Gly415Ala) c.1118G>C (p.Gly373Ala) | |
16 | g.27362893G>T | CA395299111 | IL4R | c.1541G>T (p.Gly514Val) c.1496G>T (p.Gly499Val) c.230-1210G>T (n.230-1210G>T) c.*1584G>T (n.*1584G>T) c.1061G>T (p.Gly354Val) c.650G>T (p.Gly217Val) c.590G>T (p.Gly197Val) c.1274G>T (p.Gly425Val) c.1244G>T (p.Gly415Val) c.1118G>T (p.Gly373Val) | |
16 | g.27362894T>A | CA494470195 | IL4R | c.1542T>A (p.Gly514=) c.1497T>A (p.Gly499=) c.230-1209T>A (n.230-1209T>A) c.*1585T>A (n.*1585T>A) c.1062T>A (p.Gly354=) c.651T>A (p.Gly217=) c.591T>A (p.Gly197=) c.1275T>A (p.Gly425=) c.1245T>A (p.Gly415=) c.1119T>A (p.Gly373=) | |
16 | g.27362894T>C | CA494470196 | IL4R | c.1542T>C (p.Gly514=) c.1497T>C (p.Gly499=) c.230-1209T>C (n.230-1209T>C) c.*1585T>C (n.*1585T>C) c.1062T>C (p.Gly354=) c.651T>C (p.Gly217=) c.591T>C (p.Gly197=) c.1275T>C (p.Gly425=) c.1245T>C (p.Gly415=) c.1119T>C (p.Gly373=) | |
16 | g.27362894T>G | CA494470197 | IL4R | c.1542T>G (p.Gly514=) c.1497T>G (p.Gly499=) c.230-1209T>G (n.230-1209T>G) c.*1585T>G (n.*1585T>G) c.1062T>G (p.Gly354=) c.651T>G (p.Gly217=) c.591T>G (p.Gly197=) c.1275T>G (p.Gly425=) c.1245T>G (p.Gly415=) c.1119T>G (p.Gly373=) | |
16 | g.27362894_27362910delinsTCCAGACCCACTGCTGG | CA2215169906 | IL4R | c.1542_1558delinsTCCAGACCCACTGCTGG (p.Gly514=) c.1497_1513delinsTCCAGACCCACTGCTGG (p.Gly499=) c.230-1209_230-1193delinsTCCAGACCCACTGCTGG (n.230-1209_230-1193delinsTCCAGACCCACTGCTGG) c.*1585_*1601delinsTCCAGACCCACTGCTGG (n.*1585_*1601delinsTCCAGACCCACTGCTGG) c.1062_1078delinsTCCAGACCCACTGCTGG (p.Gly354=) c.651_667delinsTCCAGACCCACTGCTGG (p.Gly217=) c.591_607delinsTCCAGACCCACTGCTGG (p.Gly197=) c.1275_1291delinsTCCAGACCCACTGCTGG (p.Gly425=) c.1245_1261delinsTCCAGACCCACTGCTGG (p.Gly415=) c.1119_1135delinsTCCAGACCCACTGCTGG (p.Gly373=) | |
16 | g.27362895C>A | CA395299112 | IL4R | c.1543C>A (p.Pro515Thr) c.1498C>A (p.Pro500Thr) c.230-1208C>A (n.230-1208C>A) c.*1586C>A (n.*1586C>A) c.1063C>A (p.Pro355Thr) c.652C>A (p.Pro218Thr) c.592C>A (p.Pro198Thr) c.1276C>A (p.Pro426Thr) c.1246C>A (p.Pro416Thr) c.1120C>A (p.Pro374Thr) | |
16 | g.27362895C= | CA2215169907 | IL4R | c.1543C= (p.Pro515=) c.1498C= (p.Pro500=) c.230-1208C= (n.230-1208C=) c.*1586C= (n.*1586C=) c.1063C= (p.Pro355=) c.652C= (p.Pro218=) c.592C= (p.Pro198=) c.1276C= (p.Pro426=) c.1246C= (p.Pro416=) c.1120C= (p.Pro374=) | |
16 | g.27362895C>G | CA7974587 | IL4R | c.1543C>G (p.Pro515Ala) c.1498C>G (p.Pro500Ala) c.230-1208C>G (n.230-1208C>G) c.*1586C>G (n.*1586C>G) c.1063C>G (p.Pro355Ala) c.652C>G (p.Pro218Ala) c.592C>G (p.Pro198Ala) c.1276C>G (p.Pro426Ala) c.1246C>G (p.Pro416Ala) c.1120C>G (p.Pro374Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362895C>T | CA395299113 | IL4R | c.1543C>T (p.Pro515Ser) c.1498C>T (p.Pro500Ser) c.230-1208C>T (n.230-1208C>T) c.*1586C>T (n.*1586C>T) c.1063C>T (p.Pro355Ser) c.652C>T (p.Pro218Ser) c.592C>T (p.Pro198Ser) c.1276C>T (p.Pro426Ser) c.1246C>T (p.Pro416Ser) c.1120C>T (p.Pro374Ser) | COSMIC |
16 | g.27362901_27362916del | CA719577366 | IL4R | c.1549_1564del (p.Pro517ThrfsTer5) c.1504_1519del (p.Pro502ThrfsTer5) c.230-1202_230-1187del (n.230-1202_230-1187del) c.*1592_*1607del (n.*1592_*1607del) c.1069_1084del (p.Pro357ThrfsTer5) c.658_673del (p.Pro220ThrfsTer5) c.598_613del (p.Pro200ThrfsTer5) c.1282_1297del (p.Pro428ThrfsTer5) c.1252_1267del (p.Pro418ThrfsTer5) c.1126_1141del (p.Pro376ThrfsTer5) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362895_27362896insA | CA2806368040 | IL4R | c.1543_1544insA (p.Pro515HisfsTer24) c.1498_1499insA (p.Pro500HisfsTer24) c.230-1208_230-1207insA (n.230-1208_230-1207insA) c.*1586_*1587insA (n.*1586_*1587insA) c.1063_1064insA (p.Pro355HisfsTer24) c.652_653insA (p.Pro218HisfsTer24) c.592_593insA (p.Pro198HisfsTer24) c.1276_1277insA (p.Pro426HisfsTer24) c.1246_1247insA (p.Pro416HisfsTer24) c.1120_1121insA (p.Pro374HisfsTer24) | |
16 | g.27362896C>A | CA395299114 | IL4R | c.1544C>A (p.Pro515Gln) c.1499C>A (p.Pro500Gln) c.230-1207C>A (n.230-1207C>A) c.*1587C>A (n.*1587C>A) c.1064C>A (p.Pro355Gln) c.653C>A (p.Pro218Gln) c.593C>A (p.Pro198Gln) c.1277C>A (p.Pro426Gln) c.1247C>A (p.Pro416Gln) c.1121C>A (p.Pro374Gln) | |
16 | g.27362896C>G | CA395299115 | IL4R | c.1544C>G (p.Pro515Arg) c.1499C>G (p.Pro500Arg) c.230-1207C>G (n.230-1207C>G) c.*1587C>G (n.*1587C>G) c.1064C>G (p.Pro355Arg) c.653C>G (p.Pro218Arg) c.593C>G (p.Pro198Arg) c.1277C>G (p.Pro426Arg) c.1247C>G (p.Pro416Arg) c.1121C>G (p.Pro374Arg) | |
16 | g.27362896C>T | CA395299116 | IL4R | c.1544C>T (p.Pro515Leu) c.1499C>T (p.Pro500Leu) c.230-1207C>T (n.230-1207C>T) c.*1587C>T (n.*1587C>T) c.1064C>T (p.Pro355Leu) c.653C>T (p.Pro218Leu) c.593C>T (p.Pro198Leu) c.1277C>T (p.Pro426Leu) c.1247C>T (p.Pro416Leu) c.1121C>T (p.Pro374Leu) | |
16 | g.27362897A>C | CA494470198 | IL4R | c.1545A>C (p.Pro515=) c.1500A>C (p.Pro500=) c.230-1206A>C (n.230-1206A>C) c.*1588A>C (n.*1588A>C) c.1065A>C (p.Pro355=) c.654A>C (p.Pro218=) c.594A>C (p.Pro198=) c.1278A>C (p.Pro426=) c.1248A>C (p.Pro416=) c.1122A>C (p.Pro374=) | |
16 | g.27362897A>G | CA494470199 | IL4R | c.1545A>G (p.Pro515=) c.1500A>G (p.Pro500=) c.230-1206A>G (n.230-1206A>G) c.*1588A>G (n.*1588A>G) c.1065A>G (p.Pro355=) c.654A>G (p.Pro218=) c.594A>G (p.Pro198=) c.1278A>G (p.Pro426=) c.1248A>G (p.Pro416=) c.1122A>G (p.Pro374=) | |
16 | g.27362897A>T | CA494470200 | IL4R | c.1545A>T (p.Pro515=) c.1500A>T (p.Pro500=) c.230-1206A>T (n.230-1206A>T) c.*1588A>T (n.*1588A>T) c.1065A>T (p.Pro355=) c.654A>T (p.Pro218=) c.594A>T (p.Pro198=) c.1278A>T (p.Pro426=) c.1248A>T (p.Pro416=) c.1122A>T (p.Pro374=) | |
16 | g.27362898G>A | CA395299117 | IL4R | c.1546G>A (p.Asp516Asn) c.1501G>A (p.Asp501Asn) c.230-1205G>A (n.230-1205G>A) c.*1589G>A (n.*1589G>A) c.1066G>A (p.Asp356Asn) c.655G>A (p.Asp219Asn) c.595G>A (p.Asp199Asn) c.1279G>A (p.Asp427Asn) c.1249G>A (p.Asp417Asn) c.1123G>A (p.Asp375Asn) | |
16 | g.27362898G>C | CA395299118 | IL4R | c.1546G>C (p.Asp516His) c.1501G>C (p.Asp501His) c.230-1205G>C (n.230-1205G>C) c.*1589G>C (n.*1589G>C) c.1066G>C (p.Asp356His) c.655G>C (p.Asp219His) c.595G>C (p.Asp199His) c.1279G>C (p.Asp427His) c.1249G>C (p.Asp417His) c.1123G>C (p.Asp375His) | |
16 | g.27362898G>T | CA395299119 | IL4R | c.1546G>T (p.Asp516Tyr) c.1501G>T (p.Asp501Tyr) c.230-1205G>T (n.230-1205G>T) c.*1589G>T (n.*1589G>T) c.1066G>T (p.Asp356Tyr) c.655G>T (p.Asp219Tyr) c.595G>T (p.Asp199Tyr) c.1279G>T (p.Asp427Tyr) c.1249G>T (p.Asp417Tyr) c.1123G>T (p.Asp375Tyr) | |
16 | g.27362898_27362899insGGCATCTCGGGTTCT | CA2806368041 | IL4R | c.1546_1547insGGCATCTCGGGTTCT (p.Asp516delinsGlyHisLeuGlyPheTyr) c.1501_1502insGGCATCTCGGGTTCT (p.Asp501delinsGlyHisLeuGlyPheTyr) c.230-1205_230-1204insGGCATCTCGGGTTCT (n.230-1205_230-1204insGGCATCTCGGGTTCT) c.*1589_*1590insGGCATCTCGGGTTCT (n.*1589_*1590insGGCATCTCGGGTTCT) c.1066_1067insGGCATCTCGGGTTCT (p.Asp356delinsGlyHisLeuGlyPheTyr) c.655_656insGGCATCTCGGGTTCT (p.Asp219delinsGlyHisLeuGlyPheTyr) c.595_596insGGCATCTCGGGTTCT (p.Asp199delinsGlyHisLeuGlyPheTyr) c.1279_1280insGGCATCTCGGGTTCT (p.Asp427delinsGlyHisLeuGlyPheTyr) c.1249_1250insGGCATCTCGGGTTCT (p.Asp417delinsGlyHisLeuGlyPheTyr) c.1123_1124insGGCATCTCGGGTTCT (p.Asp375delinsGlyHisLeuGlyPheTyr) | |
16 | g.27362899A>C | CA395299121 | IL4R | c.1547A>C (p.Asp516Ala) c.1502A>C (p.Asp501Ala) c.230-1204A>C (n.230-1204A>C) c.*1590A>C (n.*1590A>C) c.1067A>C (p.Asp356Ala) c.656A>C (p.Asp219Ala) c.596A>C (p.Asp199Ala) c.1280A>C (p.Asp427Ala) c.1250A>C (p.Asp417Ala) c.1124A>C (p.Asp375Ala) | |
16 | g.27362899A>G | CA395299122 | IL4R | c.1547A>G (p.Asp516Gly) c.1502A>G (p.Asp501Gly) c.230-1204A>G (n.230-1204A>G) c.*1590A>G (n.*1590A>G) c.1067A>G (p.Asp356Gly) c.656A>G (p.Asp219Gly) c.596A>G (p.Asp199Gly) c.1280A>G (p.Asp427Gly) c.1250A>G (p.Asp417Gly) c.1124A>G (p.Asp375Gly) | |
16 | g.27362899A>T | CA395299120 | IL4R | c.1547A>T (p.Asp516Val) c.1502A>T (p.Asp501Val) c.230-1204A>T (n.230-1204A>T) c.*1590A>T (n.*1590A>T) c.1067A>T (p.Asp356Val) c.656A>T (p.Asp219Val) c.596A>T (p.Asp199Val) c.1280A>T (p.Asp427Val) c.1250A>T (p.Asp417Val) c.1124A>T (p.Asp375Val) | |
16 | g.27362900C>A | CA395299123 | IL4R | c.1548C>A (p.Asp516Glu) c.1503C>A (p.Asp501Glu) c.230-1203C>A (n.230-1203C>A) c.*1591C>A (n.*1591C>A) c.1068C>A (p.Asp356Glu) c.657C>A (p.Asp219Glu) c.597C>A (p.Asp199Glu) c.1281C>A (p.Asp427Glu) c.1251C>A (p.Asp417Glu) c.1125C>A (p.Asp375Glu) | gnomAD v4 |
16 | g.27362900C>G | CA395299124 | IL4R | c.1548C>G (p.Asp516Glu) c.1503C>G (p.Asp501Glu) c.230-1203C>G (n.230-1203C>G) c.*1591C>G (n.*1591C>G) c.1068C>G (p.Asp356Glu) c.657C>G (p.Asp219Glu) c.597C>G (p.Asp199Glu) c.1281C>G (p.Asp427Glu) c.1251C>G (p.Asp417Glu) c.1125C>G (p.Asp375Glu) | |
16 | g.27362900C>T | CA494470201 | IL4R | c.1548C>T (p.Asp516=) c.1503C>T (p.Asp501=) c.230-1203C>T (n.230-1203C>T) c.*1591C>T (n.*1591C>T) c.1068C>T (p.Asp356=) c.657C>T (p.Asp219=) c.597C>T (p.Asp199=) c.1281C>T (p.Asp427=) c.1251C>T (p.Asp417=) c.1125C>T (p.Asp375=) | |
16 | g.27362900_27362901insTTCCT | CA2806368042 | IL4R | c.1548_1549insTTCCT (p.Pro517PhefsTer12) c.1503_1504insTTCCT (p.Pro502PhefsTer12) c.230-1203_230-1202insTTCCT (n.230-1203_230-1202insTTCCT) c.*1591_*1592insTTCCT (n.*1591_*1592insTTCCT) c.1068_1069insTTCCT (p.Pro357PhefsTer12) c.657_658insTTCCT (p.Pro220PhefsTer12) c.597_598insTTCCT (p.Pro200PhefsTer12) c.1281_1282insTTCCT (p.Pro428PhefsTer12) c.1251_1252insTTCCT (p.Pro418PhefsTer12) c.1125_1126insTTCCT (p.Pro376PhefsTer12) | |
16 | g.27362901C>A | CA395299125 | IL4R | c.1549C>A (p.Pro517Thr) c.1504C>A (p.Pro502Thr) c.230-1202C>A (n.230-1202C>A) c.*1592C>A (n.*1592C>A) c.1069C>A (p.Pro357Thr) c.658C>A (p.Pro220Thr) c.598C>A (p.Pro200Thr) c.1282C>A (p.Pro428Thr) c.1252C>A (p.Pro418Thr) c.1126C>A (p.Pro376Thr) | gnomAD v4 |
16 | g.27362901C= | CA2215169908 | IL4R | c.1549C= (p.Pro517=) c.1504C= (p.Pro502=) c.230-1202C= (n.230-1202C=) c.*1592C= (n.*1592C=) c.1069C= (p.Pro357=) c.658C= (p.Pro220=) c.598C= (p.Pro200=) c.1282C= (p.Pro428=) c.1252C= (p.Pro418=) c.1126C= (p.Pro376=) | |
16 | g.27362901C>G | CA395299126 | IL4R | c.1549C>G (p.Pro517Ala) c.1504C>G (p.Pro502Ala) c.230-1202C>G (n.230-1202C>G) c.*1592C>G (n.*1592C>G) c.1069C>G (p.Pro357Ala) c.658C>G (p.Pro220Ala) c.598C>G (p.Pro200Ala) c.1282C>G (p.Pro428Ala) c.1252C>G (p.Pro418Ala) c.1126C>G (p.Pro376Ala) | |
16 | g.27362901C>T | CA395299127 | IL4R | c.1549C>T (p.Pro517Ser) c.1504C>T (p.Pro502Ser) c.230-1202C>T (n.230-1202C>T) c.*1592C>T (n.*1592C>T) c.1069C>T (p.Pro357Ser) c.658C>T (p.Pro220Ser) c.598C>T (p.Pro200Ser) c.1282C>T (p.Pro428Ser) c.1252C>T (p.Pro418Ser) c.1126C>T (p.Pro376Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362902C>A | CA395299130 | IL4R | c.1550C>A (p.Pro517Gln) c.1505C>A (p.Pro502Gln) c.230-1201C>A (n.230-1201C>A) c.*1593C>A (n.*1593C>A) c.1070C>A (p.Pro357Gln) c.659C>A (p.Pro220Gln) c.599C>A (p.Pro200Gln) c.1283C>A (p.Pro428Gln) c.1253C>A (p.Pro418Gln) c.1127C>A (p.Pro376Gln) | |
16 | g.27362902C>G | CA395299128 | IL4R | c.1550C>G (p.Pro517Arg) c.1505C>G (p.Pro502Arg) c.230-1201C>G (n.230-1201C>G) c.*1593C>G (n.*1593C>G) c.1070C>G (p.Pro357Arg) c.659C>G (p.Pro220Arg) c.599C>G (p.Pro200Arg) c.1283C>G (p.Pro428Arg) c.1253C>G (p.Pro418Arg) c.1127C>G (p.Pro376Arg) | |
16 | g.27362902C>T | CA395299129 | IL4R | c.1550C>T (p.Pro517Leu) c.1505C>T (p.Pro502Leu) c.230-1201C>T (n.230-1201C>T) c.*1593C>T (n.*1593C>T) c.1070C>T (p.Pro357Leu) c.659C>T (p.Pro220Leu) c.599C>T (p.Pro200Leu) c.1283C>T (p.Pro428Leu) c.1253C>T (p.Pro418Leu) c.1127C>T (p.Pro376Leu) | |
16 | g.27362903A= | CA2215169909 | IL4R | c.1551A= (p.Pro517=) c.1506A= (p.Pro502=) c.230-1200A= (n.230-1200A=) c.*1594A= (n.*1594A=) c.1071A= (p.Pro357=) c.660A= (p.Pro220=) c.600A= (p.Pro200=) c.1284A= (p.Pro428=) c.1254A= (p.Pro418=) c.1128A= (p.Pro376=) | |
16 | g.27362903A>C | CA494470203 | IL4R | c.1551A>C (p.Pro517=) c.1506A>C (p.Pro502=) c.230-1200A>C (n.230-1200A>C) c.*1594A>C (n.*1594A>C) c.1071A>C (p.Pro357=) c.660A>C (p.Pro220=) c.600A>C (p.Pro200=) c.1284A>C (p.Pro428=) c.1254A>C (p.Pro418=) c.1128A>C (p.Pro376=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362903A>G | CA7974588 | IL4R | c.1551A>G (p.Pro517=) c.1506A>G (p.Pro502=) c.230-1200A>G (n.230-1200A>G) c.*1594A>G (n.*1594A>G) c.1071A>G (p.Pro357=) c.660A>G (p.Pro220=) c.600A>G (p.Pro200=) c.1284A>G (p.Pro428=) c.1254A>G (p.Pro418=) c.1128A>G (p.Pro376=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362903A>T | CA494470204 | IL4R | c.1551A>T (p.Pro517=) c.1506A>T (p.Pro502=) c.230-1200A>T (n.230-1200A>T) c.*1594A>T (n.*1594A>T) c.1071A>T (p.Pro357=) c.660A>T (p.Pro220=) c.600A>T (p.Pro200=) c.1284A>T (p.Pro428=) c.1254A>T (p.Pro418=) c.1128A>T (p.Pro376=) | |
16 | g.27362903_27362904insG | CA2806368043 | IL4R | c.1551_1552insG (p.Leu518AlafsTer21) c.1506_1507insG (p.Leu503AlafsTer21) c.230-1200_230-1199insG (n.230-1200_230-1199insG) c.*1594_*1595insG (n.*1594_*1595insG) c.1071_1072insG (p.Leu358AlafsTer21) c.660_661insG (p.Leu221AlafsTer21) c.600_601insG (p.Leu201AlafsTer21) c.1284_1285insG (p.Leu429AlafsTer21) c.1254_1255insG (p.Leu419AlafsTer21) c.1128_1129insG (p.Leu377AlafsTer21) | |
16 | g.27362904C>A | CA395299131 | IL4R | c.1552C>A (p.Leu518Met) c.1507C>A (p.Leu503Met) c.230-1199C>A (n.230-1199C>A) c.*1595C>A (n.*1595C>A) c.1072C>A (p.Leu358Met) c.661C>A (p.Leu221Met) c.601C>A (p.Leu201Met) c.1285C>A (p.Leu429Met) c.1255C>A (p.Leu419Met) c.1129C>A (p.Leu377Met) | |
16 | g.27362904C= | CA2215169910 | IL4R | c.1552C= (p.Leu518=) c.1507C= (p.Leu503=) c.230-1199C= (n.230-1199C=) c.*1595C= (n.*1595C=) c.1072C= (p.Leu358=) c.661C= (p.Leu221=) c.601C= (p.Leu201=) c.1285C= (p.Leu429=) c.1255C= (p.Leu419=) c.1129C= (p.Leu377=) | |
16 | g.27362904C>G | CA395299132 | IL4R | c.1552C>G (p.Leu518Val) c.1507C>G (p.Leu503Val) c.230-1199C>G (n.230-1199C>G) c.*1595C>G (n.*1595C>G) c.1072C>G (p.Leu358Val) c.661C>G (p.Leu221Val) c.601C>G (p.Leu201Val) c.1285C>G (p.Leu429Val) c.1255C>G (p.Leu419Val) c.1129C>G (p.Leu377Val) | |
16 | g.27362904C>T | CA494470205 | IL4R | c.1552C>T (p.Leu518=) c.1507C>T (p.Leu503=) c.230-1199C>T (n.230-1199C>T) c.*1595C>T (n.*1595C>T) c.1072C>T (p.Leu358=) c.661C>T (p.Leu221=) c.601C>T (p.Leu201=) c.1285C>T (p.Leu429=) c.1255C>T (p.Leu419=) c.1129C>T (p.Leu377=) | dbSNP |
16 | g.27362905T>A | CA395299133 | IL4R | c.1553T>A (p.Leu518Gln) c.1508T>A (p.Leu503Gln) c.230-1198T>A (n.230-1198T>A) c.*1596T>A (n.*1596T>A) c.1073T>A (p.Leu358Gln) c.662T>A (p.Leu221Gln) c.602T>A (p.Leu201Gln) c.1286T>A (p.Leu429Gln) c.1256T>A (p.Leu419Gln) c.1130T>A (p.Leu377Gln) | |
16 | g.27362905T>C | CA395299134 | IL4R | c.1553T>C (p.Leu518Pro) c.1508T>C (p.Leu503Pro) c.230-1198T>C (n.230-1198T>C) c.*1596T>C (n.*1596T>C) c.1073T>C (p.Leu358Pro) c.662T>C (p.Leu221Pro) c.602T>C (p.Leu201Pro) c.1286T>C (p.Leu429Pro) c.1256T>C (p.Leu419Pro) c.1130T>C (p.Leu377Pro) | |
16 | g.27362905T>G | CA395299135 | IL4R | c.1553T>G (p.Leu518Arg) c.1508T>G (p.Leu503Arg) c.230-1198T>G (n.230-1198T>G) c.*1596T>G (n.*1596T>G) c.1073T>G (p.Leu358Arg) c.662T>G (p.Leu221Arg) c.602T>G (p.Leu201Arg) c.1286T>G (p.Leu429Arg) c.1256T>G (p.Leu419Arg) c.1130T>G (p.Leu377Arg) | |
16 | g.27362906G>A | CA494470209 | IL4R | c.1554G>A (p.Leu518=) c.1509G>A (p.Leu503=) c.230-1197G>A (n.230-1197G>A) c.*1597G>A (n.*1597G>A) c.1074G>A (p.Leu358=) c.663G>A (p.Leu221=) c.603G>A (p.Leu201=) c.1287G>A (p.Leu429=) c.1257G>A (p.Leu419=) c.1131G>A (p.Leu377=) | dbSNP |
16 | g.27362906G>C | CA494470210 | IL4R | c.1554G>C (p.Leu518=) c.1509G>C (p.Leu503=) c.230-1197G>C (n.230-1197G>C) c.*1597G>C (n.*1597G>C) c.1074G>C (p.Leu358=) c.663G>C (p.Leu221=) c.603G>C (p.Leu201=) c.1287G>C (p.Leu429=) c.1257G>C (p.Leu419=) c.1131G>C (p.Leu377=) | |
16 | g.27362906G= | CA2215169911 | IL4R | c.1554G= (p.Leu518=) c.1509G= (p.Leu503=) c.230-1197G= (n.230-1197G=) c.*1597G= (n.*1597G=) c.1074G= (p.Leu358=) c.663G= (p.Leu221=) c.603G= (p.Leu201=) c.1287G= (p.Leu429=) c.1257G= (p.Leu419=) c.1131G= (p.Leu377=) | |
16 | g.27362906G>T | CA494470208 | IL4R | c.1554G>T (p.Leu518=) c.1509G>T (p.Leu503=) c.230-1197G>T (n.230-1197G>T) c.*1597G>T (n.*1597G>T) c.1074G>T (p.Leu358=) c.663G>T (p.Leu221=) c.603G>T (p.Leu201=) c.1287G>T (p.Leu429=) c.1257G>T (p.Leu419=) c.1131G>T (p.Leu377=) | |
16 | g.27362906_27362907insT | CA2806368044 | IL4R | c.1554_1555insT (p.Leu519SerfsTer20) c.1509_1510insT (p.Leu504SerfsTer20) c.230-1197_230-1196insT (n.230-1197_230-1196insT) c.*1597_*1598insT (n.*1597_*1598insT) c.1074_1075insT (p.Leu359SerfsTer20) c.663_664insT (p.Leu222SerfsTer20) c.603_604insT (p.Leu202SerfsTer20) c.1287_1288insT (p.Leu430SerfsTer20) c.1257_1258insT (p.Leu420SerfsTer20) c.1131_1132insT (p.Leu378SerfsTer20) | |
16 | g.27362907C>A | CA395299137 | IL4R | c.1555C>A (p.Leu519Met) c.1510C>A (p.Leu504Met) c.230-1196C>A (n.230-1196C>A) c.*1598C>A (n.*1598C>A) c.1075C>A (p.Leu359Met) c.664C>A (p.Leu222Met) c.604C>A (p.Leu202Met) c.1288C>A (p.Leu430Met) c.1258C>A (p.Leu420Met) c.1132C>A (p.Leu378Met) | |
16 | g.27362907C>G | CA395299136 | IL4R | c.1555C>G (p.Leu519Val) c.1510C>G (p.Leu504Val) c.230-1196C>G (n.230-1196C>G) c.*1598C>G (n.*1598C>G) c.1075C>G (p.Leu359Val) c.664C>G (p.Leu222Val) c.604C>G (p.Leu202Val) c.1288C>G (p.Leu430Val) c.1258C>G (p.Leu420Val) c.1132C>G (p.Leu378Val) | |
16 | g.27362907C>T | CA494470212 | IL4R | c.1555C>T (p.Leu519=) c.1510C>T (p.Leu504=) c.230-1196C>T (n.230-1196C>T) c.*1598C>T (n.*1598C>T) c.1075C>T (p.Leu359=) c.664C>T (p.Leu222=) c.604C>T (p.Leu202=) c.1288C>T (p.Leu430=) c.1258C>T (p.Leu420=) c.1132C>T (p.Leu378=) | |
16 | g.27362908T>A | CA395299138 | IL4R | c.1556T>A (p.Leu519Gln) c.1511T>A (p.Leu504Gln) c.230-1195T>A (n.230-1195T>A) c.*1599T>A (n.*1599T>A) c.1076T>A (p.Leu359Gln) c.665T>A (p.Leu222Gln) c.605T>A (p.Leu202Gln) c.1289T>A (p.Leu430Gln) c.1259T>A (p.Leu420Gln) c.1133T>A (p.Leu378Gln) | |
16 | g.27362908T>C | CA395299140 | IL4R | c.1556T>C (p.Leu519Pro) c.1511T>C (p.Leu504Pro) c.230-1195T>C (n.230-1195T>C) c.*1599T>C (n.*1599T>C) c.1076T>C (p.Leu359Pro) c.665T>C (p.Leu222Pro) c.605T>C (p.Leu202Pro) c.1289T>C (p.Leu430Pro) c.1259T>C (p.Leu420Pro) c.1133T>C (p.Leu378Pro) | |
16 | g.27362908T>G | CA395299139 | IL4R | c.1556T>G (p.Leu519Arg) c.1511T>G (p.Leu504Arg) c.230-1195T>G (n.230-1195T>G) c.*1599T>G (n.*1599T>G) c.1076T>G (p.Leu359Arg) c.665T>G (p.Leu222Arg) c.605T>G (p.Leu202Arg) c.1289T>G (p.Leu430Arg) c.1259T>G (p.Leu420Arg) c.1133T>G (p.Leu378Arg) | |
16 | g.27362909G>A | CA494470215 | IL4R | c.1557G>A (p.Leu519=) c.1512G>A (p.Leu504=) c.230-1194G>A (n.230-1194G>A) c.*1600G>A (n.*1600G>A) c.1077G>A (p.Leu359=) c.666G>A (p.Leu222=) c.606G>A (p.Leu202=) c.1290G>A (p.Leu430=) c.1260G>A (p.Leu420=) c.1134G>A (p.Leu378=) | |
16 | g.27362909G>C | CA494470217 | IL4R | c.1557G>C (p.Leu519=) c.1512G>C (p.Leu504=) c.230-1194G>C (n.230-1194G>C) c.*1600G>C (n.*1600G>C) c.1077G>C (p.Leu359=) c.666G>C (p.Leu222=) c.606G>C (p.Leu202=) c.1290G>C (p.Leu430=) c.1260G>C (p.Leu420=) c.1134G>C (p.Leu378=) | |
16 | g.27362909G>T | CA494470218 | IL4R | c.1557G>T (p.Leu519=) c.1512G>T (p.Leu504=) c.230-1194G>T (n.230-1194G>T) c.*1600G>T (n.*1600G>T) c.1077G>T (p.Leu359=) c.666G>T (p.Leu222=) c.606G>T (p.Leu202=) c.1290G>T (p.Leu430=) c.1260G>T (p.Leu420=) c.1134G>T (p.Leu378=) | |
16 | g.27362910G>A | CA395299141 | IL4R | c.1558G>A (p.Ala520Thr) c.1513G>A (p.Ala505Thr) c.230-1193G>A (n.230-1193G>A) c.*1601G>A (n.*1601G>A) c.1078G>A (p.Ala360Thr) c.667G>A (p.Ala223Thr) c.607G>A (p.Ala203Thr) c.1291G>A (p.Ala431Thr) c.1261G>A (p.Ala421Thr) c.1135G>A (p.Ala379Thr) | |
16 | g.27362910G>C | CA395299144 | IL4R | c.1558G>C (p.Ala520Pro) c.1513G>C (p.Ala505Pro) c.230-1193G>C (n.230-1193G>C) c.*1601G>C (n.*1601G>C) c.1078G>C (p.Ala360Pro) c.667G>C (p.Ala223Pro) c.607G>C (p.Ala203Pro) c.1291G>C (p.Ala431Pro) c.1261G>C (p.Ala421Pro) c.1135G>C (p.Ala379Pro) | |
16 | g.27362910G>T | CA395299142 | IL4R | c.1558G>T (p.Ala520Ser) c.1513G>T (p.Ala505Ser) c.230-1193G>T (n.230-1193G>T) c.*1601G>T (n.*1601G>T) c.1078G>T (p.Ala360Ser) c.667G>T (p.Ala223Ser) c.607G>T (p.Ala203Ser) c.1291G>T (p.Ala431Ser) c.1261G>T (p.Ala421Ser) c.1135G>T (p.Ala379Ser) | |
16 | g.27362911C>A | CA395299147 | IL4R | c.1559C>A (p.Ala520Asp) c.1514C>A (p.Ala505Asp) c.230-1192C>A (n.230-1192C>A) c.*1602C>A (n.*1602C>A) c.1079C>A (p.Ala360Asp) c.668C>A (p.Ala223Asp) c.608C>A (p.Ala203Asp) c.1292C>A (p.Ala431Asp) c.1262C>A (p.Ala421Asp) c.1136C>A (p.Ala379Asp) | |
16 | g.27362911C>G | CA395299149 | IL4R | c.1559C>G (p.Ala520Gly) c.1514C>G (p.Ala505Gly) c.230-1192C>G (n.230-1192C>G) c.*1602C>G (n.*1602C>G) c.1079C>G (p.Ala360Gly) c.668C>G (p.Ala223Gly) c.608C>G (p.Ala203Gly) c.1292C>G (p.Ala431Gly) c.1262C>G (p.Ala421Gly) c.1136C>G (p.Ala379Gly) | |
16 | g.27362911C>T | CA395299151 | IL4R | c.1559C>T (p.Ala520Val) c.1514C>T (p.Ala505Val) c.230-1192C>T (n.230-1192C>T) c.*1602C>T (n.*1602C>T) c.1079C>T (p.Ala360Val) c.668C>T (p.Ala223Val) c.608C>T (p.Ala203Val) c.1292C>T (p.Ala431Val) c.1262C>T (p.Ala421Val) c.1136C>T (p.Ala379Val) | |
16 | g.27362912C>A | CA494470222 | IL4R | c.1560C>A (p.Ala520=) c.1515C>A (p.Ala505=) c.230-1191C>A (n.230-1191C>A) c.*1603C>A (n.*1603C>A) c.1080C>A (p.Ala360=) c.669C>A (p.Ala223=) c.609C>A (p.Ala203=) c.1293C>A (p.Ala431=) c.1263C>A (p.Ala421=) c.1137C>A (p.Ala379=) | gnomAD v4 |
16 | g.27362912C>G | CA494470221 | IL4R | c.1560C>G (p.Ala520=) c.1515C>G (p.Ala505=) c.230-1191C>G (n.230-1191C>G) c.*1603C>G (n.*1603C>G) c.1080C>G (p.Ala360=) c.669C>G (p.Ala223=) c.609C>G (p.Ala203=) c.1293C>G (p.Ala431=) c.1263C>G (p.Ala421=) c.1137C>G (p.Ala379=) | |
16 | g.27362912C>T | CA494470219 | IL4R | c.1560C>T (p.Ala520=) c.1515C>T (p.Ala505=) c.230-1191C>T (n.230-1191C>T) c.*1603C>T (n.*1603C>T) c.1080C>T (p.Ala360=) c.669C>T (p.Ala223=) c.609C>T (p.Ala203=) c.1293C>T (p.Ala431=) c.1263C>T (p.Ala421=) c.1137C>T (p.Ala379=) | |
16 | g.27362913A= | CA2215169912 | IL4R | c.1561A= (p.Arg521=) c.1516A= (p.Arg506=) c.230-1190A= (n.230-1190A=) c.*1604A= (n.*1604A=) c.1081A= (p.Arg361=) c.670A= (p.Arg224=) c.610A= (p.Arg204=) c.1294A= (p.Arg432=) c.1264A= (p.Arg422=) c.1138A= (p.Arg380=) | |
16 | g.27362913A>C | CA7974589 | IL4R | c.1561A>C (p.Arg521=) c.1516A>C (p.Arg506=) c.230-1190A>C (n.230-1190A>C) c.*1604A>C (n.*1604A>C) c.1081A>C (p.Arg361=) c.670A>C (p.Arg224=) c.610A>C (p.Arg204=) c.1294A>C (p.Arg432=) c.1264A>C (p.Arg422=) c.1138A>C (p.Arg380=) | dbSNP ExAC gnomAD v2 |
16 | g.27362913A>G | CA395299155 | IL4R | c.1561A>G (p.Arg521Gly) c.1516A>G (p.Arg506Gly) c.230-1190A>G (n.230-1190A>G) c.*1604A>G (n.*1604A>G) c.1081A>G (p.Arg361Gly) c.670A>G (p.Arg224Gly) c.610A>G (p.Arg204Gly) c.1294A>G (p.Arg432Gly) c.1264A>G (p.Arg422Gly) c.1138A>G (p.Arg380Gly) | |
16 | g.27362913A>T | CA395299158 | IL4R | c.1561A>T (p.Arg521Ter) c.1516A>T (p.Arg506Ter) c.230-1190A>T (n.230-1190A>T) c.*1604A>T (n.*1604A>T) c.1081A>T (p.Arg361Ter) c.670A>T (p.Arg224Ter) c.610A>T (p.Arg204Ter) c.1294A>T (p.Arg432Ter) c.1264A>T (p.Arg422Ter) c.1138A>T (p.Arg380Ter) | |
16 | g.27362914G>A | CA395299160 | IL4R | c.1562G>A (p.Arg521Lys) c.1517G>A (p.Arg506Lys) c.230-1189G>A (n.230-1189G>A) c.*1605G>A (n.*1605G>A) c.1082G>A (p.Arg361Lys) c.671G>A (p.Arg224Lys) c.611G>A (p.Arg204Lys) c.1295G>A (p.Arg432Lys) c.1265G>A (p.Arg422Lys) c.1139G>A (p.Arg380Lys) | |
16 | g.27362914G>C | CA395299163 | IL4R | c.1562G>C (p.Arg521Thr) c.1517G>C (p.Arg506Thr) c.230-1189G>C (n.230-1189G>C) c.*1605G>C (n.*1605G>C) c.1082G>C (p.Arg361Thr) c.671G>C (p.Arg224Thr) c.611G>C (p.Arg204Thr) c.1295G>C (p.Arg432Thr) c.1265G>C (p.Arg422Thr) c.1139G>C (p.Arg380Thr) | |
16 | g.27362914G= | CA2215169913 | IL4R | c.1562G= (p.Arg521=) c.1517G= (p.Arg506=) c.230-1189G= (n.230-1189G=) c.*1605G= (n.*1605G=) c.1082G= (p.Arg361=) c.671G= (p.Arg224=) c.611G= (p.Arg204=) c.1295G= (p.Arg432=) c.1265G= (p.Arg422=) c.1139G= (p.Arg380=) | |
16 | g.27362914G>T | CA395299165 | IL4R | c.1562G>T (p.Arg521Ile) c.1517G>T (p.Arg506Ile) c.230-1189G>T (n.230-1189G>T) c.*1605G>T (n.*1605G>T) c.1082G>T (p.Arg361Ile) c.671G>T (p.Arg224Ile) c.611G>T (p.Arg204Ile) c.1295G>T (p.Arg432Ile) c.1265G>T (p.Arg422Ile) c.1139G>T (p.Arg380Ile) | dbSNP |
16 | g.27362915del | CA2806368046 | IL4R | c.1563del (p.Arg521SerfsTer6) c.1518del (p.Arg506SerfsTer6) c.230-1188del (n.230-1188del) c.*1606del (n.*1606del) c.1083del (p.Arg361SerfsTer6) c.672del (p.Arg224SerfsTer6) c.612del (p.Arg204SerfsTer6) c.1296del (p.Arg432SerfsTer6) c.1266del (p.Arg422SerfsTer6) c.1140del (p.Arg380SerfsTer6) | |
16 | g.27362915A>C | CA395299168 | IL4R | c.1563A>C (p.Arg521Ser) c.1518A>C (p.Arg506Ser) c.230-1188A>C (n.230-1188A>C) c.*1606A>C (n.*1606A>C) c.1083A>C (p.Arg361Ser) c.672A>C (p.Arg224Ser) c.612A>C (p.Arg204Ser) c.1296A>C (p.Arg432Ser) c.1266A>C (p.Arg422Ser) c.1140A>C (p.Arg380Ser) | |
16 | g.27362915A>G | CA494470226 | IL4R | c.1563A>G (p.Arg521=) c.1518A>G (p.Arg506=) c.230-1188A>G (n.230-1188A>G) c.*1606A>G (n.*1606A>G) c.1083A>G (p.Arg361=) c.672A>G (p.Arg224=) c.612A>G (p.Arg204=) c.1296A>G (p.Arg432=) c.1266A>G (p.Arg422=) c.1140A>G (p.Arg380=) | |
16 | g.27362915A>T | CA395299169 | IL4R | c.1563A>T (p.Arg521Ser) c.1518A>T (p.Arg506Ser) c.230-1188A>T (n.230-1188A>T) c.*1606A>T (n.*1606A>T) c.1083A>T (p.Arg361Ser) c.672A>T (p.Arg224Ser) c.612A>T (p.Arg204Ser) c.1296A>T (p.Arg432Ser) c.1266A>T (p.Arg422Ser) c.1140A>T (p.Arg380Ser) | |
16 | g.27362916C>A | CA395299177 | IL4R | c.1564C>A (p.His522Asn) c.1519C>A (p.His507Asn) c.230-1187C>A (n.230-1187C>A) c.*1607C>A (n.*1607C>A) c.1084C>A (p.His362Asn) c.673C>A (p.His225Asn) c.613C>A (p.His205Asn) c.1297C>A (p.His433Asn) c.1267C>A (p.His423Asn) c.1141C>A (p.His381Asn) | |
16 | g.27362916C>G | CA395299175 | IL4R | c.1564C>G (p.His522Asp) c.1519C>G (p.His507Asp) c.230-1187C>G (n.230-1187C>G) c.*1607C>G (n.*1607C>G) c.1084C>G (p.His362Asp) c.673C>G (p.His225Asp) c.613C>G (p.His205Asp) c.1297C>G (p.His433Asp) c.1267C>G (p.His423Asp) c.1141C>G (p.His381Asp) | |
16 | g.27362916C>T | CA395299172 | IL4R | c.1564C>T (p.His522Tyr) c.1519C>T (p.His507Tyr) c.230-1187C>T (n.230-1187C>T) c.*1607C>T (n.*1607C>T) c.1084C>T (p.His362Tyr) c.673C>T (p.His225Tyr) c.613C>T (p.His205Tyr) c.1297C>T (p.His433Tyr) c.1267C>T (p.His423Tyr) c.1141C>T (p.His381Tyr) | COSMIC |
16 | g.27362917A= | CA2215169914 | IL4R | c.1565A= (p.His522=) c.1520A= (p.His507=) c.230-1186A= (n.230-1186A=) c.*1608A= (n.*1608A=) c.1085A= (p.His362=) c.674A= (p.His225=) c.614A= (p.His205=) c.1298A= (p.His433=) c.1268A= (p.His423=) c.1142A= (p.His381=) | |
16 | g.27362917A>C | CA395299180 | IL4R | c.1565A>C (p.His522Pro) c.1520A>C (p.His507Pro) c.230-1186A>C (n.230-1186A>C) c.*1608A>C (n.*1608A>C) c.1085A>C (p.His362Pro) c.674A>C (p.His225Pro) c.614A>C (p.His205Pro) c.1298A>C (p.His433Pro) c.1268A>C (p.His423Pro) c.1142A>C (p.His381Pro) | |
16 | g.27362917A>G | CA7974590 | IL4R | c.1565A>G (p.His522Arg) c.1520A>G (p.His507Arg) c.230-1186A>G (n.230-1186A>G) c.*1608A>G (n.*1608A>G) c.1085A>G (p.His362Arg) c.674A>G (p.His225Arg) c.614A>G (p.His205Arg) c.1298A>G (p.His433Arg) c.1268A>G (p.His423Arg) c.1142A>G (p.His381Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362917A>T | CA395299184 | IL4R | c.1565A>T (p.His522Leu) c.1520A>T (p.His507Leu) c.230-1186A>T (n.230-1186A>T) c.*1608A>T (n.*1608A>T) c.1085A>T (p.His362Leu) c.674A>T (p.His225Leu) c.614A>T (p.His205Leu) c.1298A>T (p.His433Leu) c.1268A>T (p.His423Leu) c.1142A>T (p.His381Leu) | |
16 | g.27362918C>A | CA395299187 | IL4R | c.1566C>A (p.His522Gln) c.1521C>A (p.His507Gln) c.230-1185C>A (n.230-1185C>A) c.*1609C>A (n.*1609C>A) c.1086C>A (p.His362Gln) c.675C>A (p.His225Gln) c.615C>A (p.His205Gln) c.1299C>A (p.His433Gln) c.1269C>A (p.His423Gln) c.1143C>A (p.His381Gln) | |
16 | g.27362918C= | CA2215169915 | IL4R | c.1566C= (p.His522=) c.1521C= (p.His507=) c.230-1185C= (n.230-1185C=) c.*1609C= (n.*1609C=) c.1086C= (p.His362=) c.675C= (p.His225=) c.615C= (p.His205=) c.1299C= (p.His433=) c.1269C= (p.His423=) c.1143C= (p.His381=) | |
16 | g.27362918C>G | CA395299190 | IL4R | c.1566C>G (p.His522Gln) c.1521C>G (p.His507Gln) c.230-1185C>G (n.230-1185C>G) c.*1609C>G (n.*1609C>G) c.1086C>G (p.His362Gln) c.675C>G (p.His225Gln) c.615C>G (p.His205Gln) c.1299C>G (p.His433Gln) c.1269C>G (p.His423Gln) c.1143C>G (p.His381Gln) | |
16 | g.27362918C>T | CA7974591 | IL4R | c.1566C>T (p.His522=) c.1521C>T (p.His507=) c.230-1185C>T (n.230-1185C>T) c.*1609C>T (n.*1609C>T) c.1086C>T (p.His362=) c.675C>T (p.His225=) c.615C>T (p.His205=) c.1299C>T (p.His433=) c.1269C>T (p.His423=) c.1143C>T (p.His381=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362919del | CA2806368048 | IL4R | c.1567del (p.Leu523TrpfsTer4) c.1522del (p.Leu508TrpfsTer4) c.230-1184del (n.230-1184del) c.*1610del (n.*1610del) c.1087del (p.Leu363TrpfsTer4) c.676del (p.Leu226TrpfsTer4) c.616del (p.Leu206TrpfsTer4) c.1300del (p.Leu434TrpfsTer4) c.1270del (p.Leu424TrpfsTer4) c.1144del (p.Leu382TrpfsTer4) |