Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.27362825_27362826delinsCGCA2215169831IL4Rc.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)
16g.27362825_27362827delinsCGCCA2215169830IL4Rc.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)
16g.27362826delCA919683178IL4Rc.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
16g.27362826G>ACA7974572IL4Rc.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
16g.27362826G>CCA395298967IL4Rc.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)
16g.27362826G=CA2215169840IL4Rc.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=)
16g.27362826G>TCA395298968IL4Rc.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
16g.27362826_27362827delinsACA919683179IL4Rc.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
16g.27362826_27362827delinsTCA919683180IL4Rc.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
16g.27362826_27362827delinsGCCA2215169836IL4Rc.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)
16g.27362827delCA919683181IL4Rc.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
16g.27362827C>ACA395298969IL4Rc.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)
16g.27362827C=CA2215169847IL4Rc.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=)
16g.27362827C>GCA395298970IL4Rc.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)
16g.27362827C>TCA7974573IL4Rc.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
16g.27362828A=CA2215169850IL4Rc.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=)
16g.27362828A>CCA7974574IL4Rc.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
16g.27362828A>GCA7974575IL4Rc.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
16g.27362828A>TCA494470153IL4Rc.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
16g.27362829G>ACA395298971IL4Rc.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)
16g.27362829G>CCA395298972IL4Rc.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)
16g.27362829G>TCA395298973IL4Rc.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)
16g.27362830G>ACA395298976IL4Rc.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
16g.27362830G>CCA395298975IL4Rc.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)
16g.27362830G=CA2215169851IL4Rc.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=)
16g.27362830G>TCA395298974IL4Rc.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
16g.27362831C>ACA494470154IL4Rc.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)
16g.27362831C=CA2215169854IL4Rc.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=)
16g.27362831C>GCA494470155IL4Rc.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
16g.27362831C>TCA494470156IL4Rc.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)
16g.27362832A>CCA395298977IL4Rc.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)
16g.27362832A>GCA395298978IL4Rc.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)
16g.27362832A>TCA395298979IL4Rc.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)
16g.27362833A>CCA395298980IL4Rc.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)
16g.27362833A>GCA395298981IL4Rc.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)
16g.27362833A>TCA395298982IL4Rc.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
16g.27362834C>ACA395298983IL4Rc.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)
16g.27362834C>GCA395298984IL4Rc.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)
16g.27362834C>TCA494470157IL4Rc.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)
16g.27362835C>ACA395298985IL4Rc.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
16g.27362835C>GCA395298986IL4Rc.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)
16g.27362835C>TCA395298987IL4Rc.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
16g.27362836C>ACA395298988IL4Rc.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)
16g.27362836C>GCA395298989IL4Rc.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)
16g.27362836C>TCA395298990IL4Rc.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)
16g.27362837T>ACA494470158IL4Rc.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)
16g.27362837T>CCA494470159IL4Rc.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)
16g.27362837T>GCA494470160IL4Rc.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)
16g.27362838G>ACA7974576IL4Rc.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
16g.27362838G>CCA395298992IL4Rc.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)
16g.27362838G=CA2215169856IL4Rc.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=)
16g.27362838G>TCA395298991IL4Rc.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)
16g.27362839C>ACA395298993IL4Rc.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)
16g.27362839C>GCA395298994IL4Rc.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)
16g.27362839C>TCA395298995IL4Rc.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)
16g.27362840T>ACA494470161IL4Rc.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)
16g.27362840T>CCA494470162IL4Rc.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)
16g.27362840T>GCA494470163IL4Rc.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)
16g.27362841T>ACA395298996IL4Rc.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)
16g.27362841T>CCA7974577IL4Rc.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
16g.27362841T>GCA395298997IL4Rc.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)
16g.27362841T=CA2215169858IL4Rc.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=)
16g.27362842A>CCA395299000IL4Rc.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
16g.27362842A>GCA395298998IL4Rc.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)
16g.27362842A>TCA395298999IL4Rc.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)
16g.27362843C>ACA395299001IL4Rc.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)
16g.27362843C=CA2215169860IL4Rc.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=)
16g.27362843C>GCA395299002IL4Rc.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
16g.27362843C>TCA494470164IL4Rc.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)
16g.27362844C>ACA395299003IL4Rc.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
16g.27362844C=CA2215169862IL4Rc.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=)
16g.27362844C>GCA395299004IL4Rc.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)
16g.27362844C>TCA7974578IL4Rc.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
16g.27362845G>ACA7974579IL4Rc.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
16g.27362845G>CCA395299006IL4Rc.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
16g.27362845G=CA2215169866IL4Rc.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=)
16g.27362845G>TCA395299005IL4Rc.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)
16g.27362846C>ACA494470165IL4Rc.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=)
16g.27362846C>GCA494470166IL4Rc.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=)
16g.27362846C>TCA494470167IL4Rc.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=)
16g.27362847A>CCA395299007IL4Rc.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)
16g.27362847A>GCA395299008IL4Rc.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)
16g.27362847A>TCA395299009IL4Rc.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)
16g.27362848G>ACA395299010IL4Rc.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)
16g.27362848G>CCA395299011IL4Rc.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)
16g.27362848G>TCA395299012IL4Rc.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
16g.27362849C>ACA395299013IL4Rc.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)
16g.27362849C>GCA395299014IL4Rc.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)
16g.27362849C>TCA494470168IL4Rc.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=)
16g.27362850T>ACA395299015IL4Rc.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)
16g.27362850T>CCA395299016IL4Rc.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
16g.27362850T>GCA395299017IL4Rc.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)
16g.27362850T=CA2215169869IL4Rc.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=)
16g.27362851T>ACA395299020IL4Rc.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)
16g.27362851T>CCA395299019IL4Rc.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)
16g.27362851T>GCA395299018IL4Rc.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
16g.27362851T=CA2215169870IL4Rc.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=)
16g.27362852C>ACA395299022IL4Rc.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)
16g.27362852C>GCA395299021IL4Rc.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)
16g.27362852C>TCA494470169IL4Rc.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=)
16g.27362853A>CCA395299024IL4Rc.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)
16g.27362853A>GCA395299023IL4Rc.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)
16g.27362853A>TCA395299025IL4Rc.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)
16g.27362854G>ACA395299026IL4Rc.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
16g.27362854G>CCA395299027IL4Rc.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)
16g.27362854G=CA2215169872IL4Rc.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=)
16g.27362854G>TCA395299028IL4Rc.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)
16g.27362855C>ACA395299029IL4Rc.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)
16g.27362855C>GCA395299030IL4Rc.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)
16g.27362855C>TCA494470170IL4Rc.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
16g.27362856A>CCA395299031IL4Rc.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)
16g.27362856A>GCA395299032IL4Rc.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)
16g.27362856A>TCA395299033IL4Rc.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)
16g.27362857A=CA2215169873IL4Rc.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=)
16g.27362857A>CCA395299034IL4Rc.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)
16g.27362857A>GCA7974580IL4Rc.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
16g.27362857A>TCA395299035IL4Rc.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)
16g.27362858C>ACA395299036IL4Rc.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
16g.27362858C=CA2215169874IL4Rc.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=)
16g.27362858C>GCA395299037IL4Rc.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)
16g.27362858C>TCA494470171IL4Rc.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=)
16g.27362859delCA2632431260IL4Rc.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
16g.27362859T>ACA395299039IL4Rc.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)
16g.27362859T>CCA124192IL4Rc.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
16g.27362859T>GCA395299038IL4Rc.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)
16g.27362859T=CA2215169879IL4Rc.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=)
16g.27362860C>ACA395299040IL4Rc.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)
16g.27362860C>GCA395299041IL4Rc.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)
16g.27362860C>TCA395299042IL4Rc.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
16g.27362861C>ACA494470172IL4Rc.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=)
16g.27362861C>GCA494470173IL4Rc.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
16g.27362861C>TCA494470174IL4Rc.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=)
16g.27362862C>ACA395299043IL4Rc.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)
16g.27362862C=CA2215169883IL4Rc.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=)
16g.27362862C>GCA7974582IL4Rc.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
16g.27362862C>TCA7974581IL4Rc.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
16g.27362863T>ACA395299044IL4Rc.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
16g.27362863T>CCA395299045IL4Rc.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
16g.27362863T>GCA395299046IL4Rc.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)
16g.27362864G>ACA494470176IL4Rc.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
16g.27362864G>CCA494470177IL4Rc.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
16g.27362864G=CA2215169885IL4Rc.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=)
16g.27362864G>TCA494470175IL4Rc.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=)
16g.27362865A>CCA395299047IL4Rc.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)
16g.27362865A>GCA395299048IL4Rc.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)
16g.27362865A>TCA395299049IL4Rc.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)
16g.27362866G>ACA395299050IL4Rc.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)
16g.27362866G>CCA395299052IL4Rc.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)
16g.27362866G>TCA395299051IL4Rc.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)
16g.27362867C>ACA395299053IL4Rc.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)
16g.27362867C>GCA395299054IL4Rc.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
16g.27362867C>TCA494470178IL4Rc.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=)
16g.27362868C>ACA395299055IL4Rc.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)
16g.27362868C>GCA395299056IL4Rc.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)
16g.27362868C>TCA395299057IL4Rc.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)
16g.27362869A>CCA395299058IL4Rc.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)
16g.27362869A>GCA395299059IL4Rc.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)
16g.27362869A>TCA395299060IL4Rc.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)
16g.27362870G>ACA494470179IL4Rc.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=)
16g.27362870G>CCA395299061IL4Rc.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)
16g.27362870G>TCA395299062IL4Rc.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)
16g.27362871T>ACA395299063IL4Rc.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)
16g.27362871T>CCA395299064IL4Rc.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
16g.27362871T>GCA395299065IL4Rc.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)
16g.27362872C>ACA395299066IL4Rc.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)
16g.27362872C=CA2215169888IL4Rc.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=)
16g.27362872C>GCA395299068IL4Rc.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)
16g.27362872C>TCA395299067IL4Rc.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
16g.27362873A>CCA494470180IL4Rc.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=)
16g.27362873A>GCA494470181IL4Rc.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=)
16g.27362873A>TCA494470182IL4Rc.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=)
16g.27362874C>ACA395299069IL4Rc.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)
16g.27362874C=CA2215169893IL4Rc.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=)
16g.27362874C>GCA395299070IL4Rc.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
16g.27362874C>TCA395299071IL4Rc.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
16g.27362875C>ACA395299072IL4Rc.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)
16g.27362875C=CA2215169895IL4Rc.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=)
16g.27362875C>GCA395299073IL4Rc.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)
16g.27362875C>TCA7974583IL4Rc.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
16g.27362876G>ACA7974584IL4Rc.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
16g.27362876G>CCA494470183IL4Rc.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=)
16g.27362876G=CA2215169897IL4Rc.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=)
16g.27362876G>TCA494470184IL4Rc.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=)
16g.27362877T>ACA395299074IL4Rc.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
16g.27362877T>CCA395299075IL4Rc.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
16g.27362877T>GCA395299076IL4Rc.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)
16g.27362877T=CA2215169898IL4Rc.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=)
16g.27362878G>ACA395299078IL4Rc.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)
16g.27362878G>CCA395299079IL4Rc.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)
16g.27362878G>TCA395299077IL4Rc.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)
16g.27362879T>ACA395299081IL4Rc.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)
16g.27362879T>CCA494470185IL4Rc.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=)
16g.27362879T>GCA395299080IL4Rc.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)
16g.27362880C>ACA395299082IL4Rc.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)
16g.27362880C>GCA395299083IL4Rc.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)
16g.27362880C>TCA395299084IL4Rc.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)
16g.27362881C>ACA395299085IL4Rc.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)
16g.27362881C>GCA395299086IL4Rc.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)
16g.27362881C>TCA395299087IL4Rc.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)
16g.27362882C>ACA494470188IL4Rc.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=)
16g.27362882C>GCA494470186IL4Rc.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=)
16g.27362882C>TCA494470187IL4Rc.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=)
16g.27362883A>CCA494470189IL4Rc.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=)
16g.27362883A>GCA395299088IL4Rc.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)
16g.27362883A>TCA395299089IL4Rc.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)
16g.27362884G>ACA395299090IL4Rc.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)
16g.27362884G>CCA395299091IL4Rc.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)
16g.27362884G>TCA395299092IL4Rc.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)
16g.27362885A=CA2215169900IL4Rc.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=)
16g.27362885A>CCA7974585IL4Rc.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
16g.27362885A>GCA494470190IL4Rc.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=)
16g.27362885A>TCA395299093IL4Rc.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)
16g.27362886G>ACA395299094IL4Rc.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)
16g.27362886G>CCA395299096IL4Rc.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)
16g.27362886G>TCA395299095IL4Rc.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)
16g.27362887A>CCA395299097IL4Rc.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)
16g.27362887A>GCA395299098IL4Rc.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)
16g.27362887A>TCA395299099IL4Rc.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)
16g.27362888G>ACA494470191IL4Rc.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
16g.27362888G>CCA395299100IL4Rc.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)
16g.27362888G>TCA395299101IL4Rc.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)
16g.27362889C>ACA395299102IL4Rc.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
16g.27362889C=CA2215169903IL4Rc.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=)
16g.27362889C>GCA395299103IL4Rc.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)
16g.27362889C>TCA494470192IL4Rc.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
16g.27362890T>ACA395299104IL4Rc.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)
16g.27362890T>CCA395299105IL4Rc.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)
16g.27362890T>GCA395299106IL4Rc.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)
16g.27362891G>ACA494470194IL4Rc.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=)
16g.27362891G>CCA7974586IL4Rc.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
16g.27362891G=CA2215169904IL4Rc.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=)
16g.27362891G>TCA494470193IL4Rc.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
16g.27362892_27362893dupCA2806368039IL4Rc.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)
16g.27362892G>ACA279686993IL4Rc.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
16g.27362892G>CCA395299108IL4Rc.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)
16g.27362892G=CA2215169905IL4Rc.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=)
16g.27362892G>TCA395299107IL4Rc.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
16g.27362893G>ACA395299109IL4Rc.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
16g.27362893G>CCA395299110IL4Rc.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)
16g.27362893G>TCA395299111IL4Rc.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)
16g.27362894T>ACA494470195IL4Rc.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=)
16g.27362894T>CCA494470196IL4Rc.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=)
16g.27362894T>GCA494470197IL4Rc.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=)
16g.27362894_27362910delinsTCCAGACCCACTGCTGGCA2215169906IL4Rc.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=)
16g.27362895C>ACA395299112IL4Rc.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)
16g.27362895C=CA2215169907IL4Rc.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=)
16g.27362895C>GCA7974587IL4Rc.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
16g.27362895C>TCA395299113IL4Rc.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
16g.27362901_27362916delCA719577366IL4Rc.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
16g.27362895_27362896insACA2806368040IL4Rc.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)
16g.27362896C>ACA395299114IL4Rc.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)
16g.27362896C>GCA395299115IL4Rc.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)
16g.27362896C>TCA395299116IL4Rc.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)
16g.27362897A>CCA494470198IL4Rc.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=)
16g.27362897A>GCA494470199IL4Rc.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=)
16g.27362897A>TCA494470200IL4Rc.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=)
16g.27362898G>ACA395299117IL4Rc.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)
16g.27362898G>CCA395299118IL4Rc.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)
16g.27362898G>TCA395299119IL4Rc.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)
16g.27362898_27362899insGGCATCTCGGGTTCTCA2806368041IL4Rc.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)
16g.27362899A>CCA395299121IL4Rc.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)
16g.27362899A>GCA395299122IL4Rc.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)
16g.27362899A>TCA395299120IL4Rc.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)
16g.27362900C>ACA395299123IL4Rc.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
16g.27362900C>GCA395299124IL4Rc.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)
16g.27362900C>TCA494470201IL4Rc.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=)
16g.27362900_27362901insTTCCTCA2806368042IL4Rc.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)
16g.27362901C>ACA395299125IL4Rc.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
16g.27362901C=CA2215169908IL4Rc.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=)
16g.27362901C>GCA395299126IL4Rc.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)
16g.27362901C>TCA395299127IL4Rc.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
16g.27362902C>ACA395299130IL4Rc.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)
16g.27362902C>GCA395299128IL4Rc.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)
16g.27362902C>TCA395299129IL4Rc.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)
16g.27362903A=CA2215169909IL4Rc.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=)
16g.27362903A>CCA494470203IL4Rc.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
16g.27362903A>GCA7974588IL4Rc.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
16g.27362903A>TCA494470204IL4Rc.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=)
16g.27362903_27362904insGCA2806368043IL4Rc.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)
16g.27362904C>ACA395299131IL4Rc.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)
16g.27362904C=CA2215169910IL4Rc.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=)
16g.27362904C>GCA395299132IL4Rc.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)
16g.27362904C>TCA494470205IL4Rc.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
16g.27362905T>ACA395299133IL4Rc.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)
16g.27362905T>CCA395299134IL4Rc.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)
16g.27362905T>GCA395299135IL4Rc.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)
16g.27362906G>ACA494470209IL4Rc.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
16g.27362906G>CCA494470210IL4Rc.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=)
16g.27362906G=CA2215169911IL4Rc.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=)
16g.27362906G>TCA494470208IL4Rc.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=)
16g.27362906_27362907insTCA2806368044IL4Rc.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)
16g.27362907C>ACA395299137IL4Rc.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)
16g.27362907C>GCA395299136IL4Rc.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)
16g.27362907C>TCA494470212IL4Rc.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=)
16g.27362908T>ACA395299138IL4Rc.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)
16g.27362908T>CCA395299140IL4Rc.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)
16g.27362908T>GCA395299139IL4Rc.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)
16g.27362909G>ACA494470215IL4Rc.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=)
16g.27362909G>CCA494470217IL4Rc.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=)
16g.27362909G>TCA494470218IL4Rc.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=)
16g.27362910G>ACA395299141IL4Rc.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)
16g.27362910G>CCA395299144IL4Rc.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)
16g.27362910G>TCA395299142IL4Rc.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)
16g.27362911C>ACA395299147IL4Rc.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)
16g.27362911C>GCA395299149IL4Rc.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)
16g.27362911C>TCA395299151IL4Rc.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)
16g.27362912C>ACA494470222IL4Rc.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
16g.27362912C>GCA494470221IL4Rc.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=)
16g.27362912C>TCA494470219IL4Rc.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=)
16g.27362913A=CA2215169912IL4Rc.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=)
16g.27362913A>CCA7974589IL4Rc.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
16g.27362913A>GCA395299155IL4Rc.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)
16g.27362913A>TCA395299158IL4Rc.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)
16g.27362914G>ACA395299160IL4Rc.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)
16g.27362914G>CCA395299163IL4Rc.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)
16g.27362914G=CA2215169913IL4Rc.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=)
16g.27362914G>TCA395299165IL4Rc.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
16g.27362915delCA2806368046IL4Rc.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)
16g.27362915A>CCA395299168IL4Rc.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)
16g.27362915A>GCA494470226IL4Rc.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=)
16g.27362915A>TCA395299169IL4Rc.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)
16g.27362916C>ACA395299177IL4Rc.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)
16g.27362916C>GCA395299175IL4Rc.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)
16g.27362916C>TCA395299172IL4Rc.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
16g.27362917A=CA2215169914IL4Rc.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=)
16g.27362917A>CCA395299180IL4Rc.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)
16g.27362917A>GCA7974590IL4Rc.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
16g.27362917A>TCA395299184IL4Rc.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)
16g.27362918C>ACA395299187IL4Rc.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)
16g.27362918C=CA2215169915IL4Rc.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=)
16g.27362918C>GCA395299190IL4Rc.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)
16g.27362918C>TCA7974591IL4Rc.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
16g.27362919delCA2806368048IL4Rc.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)
16g.27362919C>ACA395299195IL4Rc.1567C>A (p.Leu523Met)
c.1522C>A (p.Leu508Met)
c.230-1184C>A (n.230-1184C>A)
c.*1610C>A (n.*1610C>A)
c.1087C>A (p.Leu363Met)
c.676C>A (p.Leu226Met)
c.616C>A (p.Leu206Met)
c.1300C>A (p.Leu434Met)
c.1270C>A (p.Leu424Met)
c.1144C>A (p.Leu382Met)
16g.27362919C>GCA395299197IL4Rc.1567C>G (p.Leu523Val)
c.1522C>G (p.Leu508Val)
c.230-1184C>G (n.230-1184C>G)
c.*1610C>G (n.*1610C>G)
c.1087C>G (p.Leu363Val)
c.676C>G (p.Leu226Val)
c.616C>G (p.Leu206Val)
c.1300C>G (p.Leu434Val)
c.1270C>G (p.Leu424Val)
c.1144C>G (p.Leu382Val)
16g.27362919C>TCA494470229IL4Rc.1567C>T (p.Leu523=)
c.1522C>T (p.Leu508=)
c.230-1184C>T (n.230-1184C>T)
c.*1610C>T (n.*1610C>T)
c.1087C>T (p.Leu363=)
c.676C>T (p.Leu226=)
c.616C>T (p.Leu206=)
c.1300C>T (p.Leu434=)
c.1270C>T (p.Leu424=)
c.1144C>T (p.Leu382=)
16g.27362920T>ACA395299201IL4Rc.1568T>A (p.Leu523Gln)
c.1523T>A (p.Leu508Gln)
c.230-1183T>A (n.230-1183T>A)
c.*1611T>A (n.*1611T>A)
c.1088T>A (p.Leu363Gln)
c.677T>A (p.Leu226Gln)
c.617T>A (p.Leu206Gln)
c.1301T>A (p.Leu434Gln)
c.1271T>A (p.Leu424Gln)
c.1145T>A (p.Leu382Gln)
16g.27362920T>CCA395299203IL4Rc.1568T>C (p.Leu523Pro)
c.1523T>C (p.Leu508Pro)
c.230-1183T>C (n.230-1183T>C)
c.*1611T>C (n.*1611T>C)
c.1088T>C (p.Leu363Pro)
c.677T>C (p.Leu226Pro)
c.617T>C (p.Leu206Pro)
c.1301T>C (p.Leu434Pro)
c.1271T>C (p.Leu424Pro)
c.1145T>C (p.Leu382Pro)
16g.27362920T>GCA7974592IL4Rc.1568T>G (p.Leu523Arg)
c.1523T>G (p.Leu508Arg)
c.230-1183T>G (n.230-1183T>G)
c.*1611T>G (n.*1611T>G)
c.1088T>G (p.Leu363Arg)
c.677T>G (p.Leu226Arg)
c.617T>G (p.Leu206Arg)
c.1301T>G (p.Leu434Arg)
c.1271T>G (p.Leu424Arg)
c.1145T>G (p.Leu382Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362920T=CA2215169916IL4Rc.1568T= (p.Leu523=)
c.1523T= (p.Leu508=)
c.230-1183T= (n.230-1183T=)
c.*1611T= (n.*1611T=)
c.1088T= (p.Leu363=)
c.677T= (p.Leu226=)
c.617T= (p.Leu206=)
c.1301T= (p.Leu434=)
c.1271T= (p.Leu424=)
c.1145T= (p.Leu382=)
16g.27362921G>ACA494470230IL4Rc.1569G>A (p.Leu523=)
c.1524G>A (p.Leu508=)
c.230-1182G>A (n.230-1182G>A)
c.*1612G>A (n.*1612G>A)
c.1089G>A (p.Leu363=)
c.678G>A (p.Leu226=)
c.618G>A (p.Leu206=)
c.1302G>A (p.Leu434=)
c.1272G>A (p.Leu424=)
c.1146G>A (p.Leu382=)
16g.27362921G>CCA494470231IL4Rc.1569G>C (p.Leu523=)
c.1524G>C (p.Leu508=)
c.230-1182G>C (n.230-1182G>C)
c.*1612G>C (n.*1612G>C)
c.1089G>C (p.Leu363=)
c.678G>C (p.Leu226=)
c.618G>C (p.Leu206=)
c.1302G>C (p.Leu434=)
c.1272G>C (p.Leu424=)
c.1146G>C (p.Leu382=)
16g.27362921G>TCA494470232IL4Rc.1569G>T (p.Leu523=)
c.1524G>T (p.Leu508=)
c.230-1182G>T (n.230-1182G>T)
c.*1612G>T (n.*1612G>T)
c.1089G>T (p.Leu363=)
c.678G>T (p.Leu226=)
c.618G>T (p.Leu206=)
c.1302G>T (p.Leu434=)
c.1272G>T (p.Leu424=)
c.1146G>T (p.Leu382=)
16g.27362922G>ACA395299212IL4Rc.1570G>A (p.Glu524Lys)
c.1525G>A (p.Glu509Lys)
c.230-1181G>A (n.230-1181G>A)
c.*1613G>A (n.*1613G>A)
c.1090G>A (p.Glu364Lys)
c.679G>A (p.Glu227Lys)
c.619G>A (p.Glu207Lys)
c.1303G>A (p.Glu435Lys)
c.1273G>A (p.Glu425Lys)
c.1147G>A (p.Glu383Lys)
dbSNP gnomAD v2 gnomAD v4
16g.27362922G>CCA395299210IL4Rc.1570G>C (p.Glu524Gln)
c.1525G>C (p.Glu509Gln)
c.230-1181G>C (n.230-1181G>C)
c.*1613G>C (n.*1613G>C)
c.1090G>C (p.Glu364Gln)
c.679G>C (p.Glu227Gln)
c.619G>C (p.Glu207Gln)
c.1303G>C (p.Glu435Gln)
c.1273G>C (p.Glu425Gln)
c.1147G>C (p.Glu383Gln)
gnomAD v4
16g.27362922G=CA2215169917IL4Rc.1570G= (p.Glu524=)
c.1525G= (p.Glu509=)
c.230-1181G= (n.230-1181G=)
c.*1613G= (n.*1613G=)
c.1090G= (p.Glu364=)
c.679G= (p.Glu227=)
c.619G= (p.Glu207=)
c.1303G= (p.Glu435=)
c.1273G= (p.Glu425=)
c.1147G= (p.Glu383=)
16g.27362922G>TCA395299208IL4Rc.1570G>T (p.Glu524Ter)
c.1525G>T (p.Glu509Ter)
c.230-1181G>T (n.230-1181G>T)
c.*1613G>T (n.*1613G>T)
c.1090G>T (p.Glu364Ter)
c.679G>T (p.Glu227Ter)
c.619G>T (p.Glu207Ter)
c.1303G>T (p.Glu435Ter)
c.1273G>T (p.Glu425Ter)
c.1147G>T (p.Glu383Ter)
16g.27362923A=CA2215169918IL4Rc.1571A= (p.Glu524=)
c.1526A= (p.Glu509=)
c.230-1180A= (n.230-1180A=)
c.*1614A= (n.*1614A=)
c.1091A= (p.Glu364=)
c.680A= (p.Glu227=)
c.620A= (p.Glu207=)
c.1304A= (p.Glu435=)
c.1274A= (p.Glu425=)
c.1148A= (p.Glu383=)
16g.27362923A>CCA395299215IL4Rc.1571A>C (p.Glu524Ala)
c.1526A>C (p.Glu509Ala)
c.230-1180A>C (n.230-1180A>C)
c.*1614A>C (n.*1614A>C)
c.1091A>C (p.Glu364Ala)
c.680A>C (p.Glu227Ala)
c.620A>C (p.Glu207Ala)
c.1304A>C (p.Glu435Ala)
c.1274A>C (p.Glu425Ala)
c.1148A>C (p.Glu383Ala)
16g.27362923A>GCA395299217IL4Rc.1571A>G (p.Glu524Gly)
c.1526A>G (p.Glu509Gly)
c.230-1180A>G (n.230-1180A>G)
c.*1614A>G (n.*1614A>G)
c.1091A>G (p.Glu364Gly)
c.680A>G (p.Glu227Gly)
c.620A>G (p.Glu207Gly)
c.1304A>G (p.Glu435Gly)
c.1274A>G (p.Glu425Gly)
c.1148A>G (p.Glu383Gly)
gnomAD v4
16g.27362923A>TCA395299219IL4Rc.1571A>T (p.Glu524Val)
c.1526A>T (p.Glu509Val)
c.230-1180A>T (n.230-1180A>T)
c.*1614A>T (n.*1614A>T)
c.1091A>T (p.Glu364Val)
c.680A>T (p.Glu227Val)
c.620A>T (p.Glu207Val)
c.1304A>T (p.Glu435Val)
c.1274A>T (p.Glu425Val)
c.1148A>T (p.Glu383Val)
dbSNP gnomAD v3 gnomAD v4
16g.27362923_27362927delCA2806368050IL4Rc.1571_1575del (p.Glu524GlyfsTer13)
c.1526_1530del (p.Glu509GlyfsTer13)
c.230-1180_230-1176del (n.230-1180_230-1176del)
c.*1614_*1618del (n.*1614_*1618del)
c.1091_1095del (p.Glu364GlyfsTer13)
c.680_684del (p.Glu227GlyfsTer13)
c.620_624del (p.Glu207GlyfsTer13)
c.1304_1308del (p.Glu435GlyfsTer13)
c.1274_1278del (p.Glu425GlyfsTer13)
c.1148_1152del (p.Glu383GlyfsTer13)
16g.27362924G>ACA494470234IL4Rc.1572G>A (p.Glu524=)
c.1527G>A (p.Glu509=)
c.230-1179G>A (n.230-1179G>A)
c.*1615G>A (n.*1615G>A)
c.1092G>A (p.Glu364=)
c.681G>A (p.Glu227=)
c.621G>A (p.Glu207=)
c.1305G>A (p.Glu435=)
c.1275G>A (p.Glu425=)
c.1149G>A (p.Glu383=)
dbSNP gnomAD v4
16g.27362924G>CCA395299222IL4Rc.1572G>C (p.Glu524Asp)
c.1527G>C (p.Glu509Asp)
c.230-1179G>C (n.230-1179G>C)
c.*1615G>C (n.*1615G>C)
c.1092G>C (p.Glu364Asp)
c.681G>C (p.Glu227Asp)
c.621G>C (p.Glu207Asp)
c.1305G>C (p.Glu435Asp)
c.1275G>C (p.Glu425Asp)
c.1149G>C (p.Glu383Asp)
16g.27362924G=CA2215169919IL4Rc.1572G= (p.Glu524=)
c.1527G= (p.Glu509=)
c.230-1179G= (n.230-1179G=)
c.*1615G= (n.*1615G=)
c.1092G= (p.Glu364=)
c.681G= (p.Glu227=)
c.621G= (p.Glu207=)
c.1305G= (p.Glu435=)
c.1275G= (p.Glu425=)
c.1149G= (p.Glu383=)
16g.27362924G>TCA395299223IL4Rc.1572G>T (p.Glu524Asp)
c.1527G>T (p.Glu509Asp)
c.230-1179G>T (n.230-1179G>T)
c.*1615G>T (n.*1615G>T)
c.1092G>T (p.Glu364Asp)
c.681G>T (p.Glu227Asp)
c.621G>T (p.Glu207Asp)
c.1305G>T (p.Glu435Asp)
c.1275G>T (p.Glu425Asp)
c.1149G>T (p.Glu383Asp)
16g.27362925G>ACA395299227IL4Rc.1573G>A (p.Glu525Lys)
c.1528G>A (p.Glu510Lys)
c.230-1178G>A (n.230-1178G>A)
c.*1616G>A (n.*1616G>A)
c.1093G>A (p.Glu365Lys)
c.682G>A (p.Glu228Lys)
c.622G>A (p.Glu208Lys)
c.1306G>A (p.Glu436Lys)
c.1276G>A (p.Glu426Lys)
c.1150G>A (p.Glu384Lys)
gnomAD v4
16g.27362925G>CCA395299229IL4Rc.1573G>C (p.Glu525Gln)
c.1528G>C (p.Glu510Gln)
c.230-1178G>C (n.230-1178G>C)
c.*1616G>C (n.*1616G>C)
c.1093G>C (p.Glu365Gln)
c.682G>C (p.Glu228Gln)
c.622G>C (p.Glu208Gln)
c.1306G>C (p.Glu436Gln)
c.1276G>C (p.Glu426Gln)
c.1150G>C (p.Glu384Gln)
16g.27362925G>TCA395299231IL4Rc.1573G>T (p.Glu525Ter)
c.1528G>T (p.Glu510Ter)
c.230-1178G>T (n.230-1178G>T)
c.*1616G>T (n.*1616G>T)
c.1093G>T (p.Glu365Ter)
c.682G>T (p.Glu228Ter)
c.622G>T (p.Glu208Ter)
c.1306G>T (p.Glu436Ter)
c.1276G>T (p.Glu426Ter)
c.1150G>T (p.Glu384Ter)
16g.27362926A>CCA395299235IL4Rc.1574A>C (p.Glu525Ala)
c.1529A>C (p.Glu510Ala)
c.230-1177A>C (n.230-1177A>C)
c.*1617A>C (n.*1617A>C)
c.1094A>C (p.Glu365Ala)
c.683A>C (p.Glu228Ala)
c.623A>C (p.Glu208Ala)
c.1307A>C (p.Glu436Ala)
c.1277A>C (p.Glu426Ala)
c.1151A>C (p.Glu384Ala)
16g.27362926A>GCA395299237IL4Rc.1574A>G (p.Glu525Gly)
c.1529A>G (p.Glu510Gly)
c.230-1177A>G (n.230-1177A>G)
c.*1617A>G (n.*1617A>G)
c.1094A>G (p.Glu365Gly)
c.683A>G (p.Glu228Gly)
c.623A>G (p.Glu208Gly)
c.1307A>G (p.Glu436Gly)
c.1277A>G (p.Glu426Gly)
c.1151A>G (p.Glu384Gly)
gnomAD v4
16g.27362926A>TCA395299239IL4Rc.1574A>T (p.Glu525Val)
c.1529A>T (p.Glu510Val)
c.230-1177A>T (n.230-1177A>T)
c.*1617A>T (n.*1617A>T)
c.1094A>T (p.Glu365Val)
c.683A>T (p.Glu228Val)
c.623A>T (p.Glu208Val)
c.1307A>T (p.Glu436Val)
c.1277A>T (p.Glu426Val)
c.1151A>T (p.Glu384Val)

Number of alleles fetched