Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.27362650_27362652delCA719576827IL4Rc.1298_1300del (p.Leu433del)
c.1253_1255del (p.Leu418del)
c.230-1453_230-1451del (n.230-1453_230-1451del)
c.*1341_*1343del (n.*1341_*1343del)
c.818_820del (p.Leu273del)
c.407_409del (p.Leu136del)
c.347_349del (p.Leu116del)
c.1031_1033del (p.Leu344del)
c.1001_1003del (p.Leu334del)
c.875_877del (p.Leu292del)
c.*333_*335del (n.*333_*335del)
dbSNP
16g.27362651T>ACA494470521IL4Rc.1299T>A (p.Leu433=)
c.1254T>A (p.Leu418=)
c.230-1452T>A (n.230-1452T>A)
c.*1342T>A (n.*1342T>A)
c.819T>A (p.Leu273=)
c.408T>A (p.Leu136=)
c.348T>A (p.Leu116=)
c.1032T>A (p.Leu344=)
c.1002T>A (p.Leu334=)
c.876T>A (p.Leu292=)
c.*334T>A (n.*334T>A)
16g.27362651T>CCA7974533IL4Rc.1299T>C (p.Leu433=)
c.1254T>C (p.Leu418=)
c.230-1452T>C (n.230-1452T>C)
c.*1342T>C (n.*1342T>C)
c.819T>C (p.Leu273=)
c.408T>C (p.Leu136=)
c.348T>C (p.Leu116=)
c.1032T>C (p.Leu344=)
c.1002T>C (p.Leu334=)
c.876T>C (p.Leu292=)
c.*334T>C (n.*334T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362651T>GCA494470522IL4Rc.1299T>G (p.Leu433=)
c.1254T>G (p.Leu418=)
c.230-1452T>G (n.230-1452T>G)
c.*1342T>G (n.*1342T>G)
c.819T>G (p.Leu273=)
c.408T>G (p.Leu136=)
c.348T>G (p.Leu116=)
c.1032T>G (p.Leu344=)
c.1002T>G (p.Leu334=)
c.876T>G (p.Leu292=)
c.*334T>G (n.*334T>G)
16g.27362651T=CA2215169588IL4Rc.1299T= (p.Leu433=)
c.1254T= (p.Leu418=)
c.230-1452T= (n.230-1452T=)
c.*1342T= (n.*1342T=)
c.819T= (p.Leu273=)
c.408T= (p.Leu136=)
c.348T= (p.Leu116=)
c.1032T= (p.Leu344=)
c.1002T= (p.Leu334=)
c.876T= (p.Leu292=)
c.*334T= (n.*334T=)
16g.27362652C>ACA395298412IL4Rc.1300C>A (p.Pro434Thr)
c.1255C>A (p.Pro419Thr)
c.230-1451C>A (n.230-1451C>A)
c.*1343C>A (n.*1343C>A)
c.820C>A (p.Pro274Thr)
c.409C>A (p.Pro137Thr)
c.349C>A (p.Pro117Thr)
c.1033C>A (p.Pro345Thr)
c.1003C>A (p.Pro335Thr)
c.877C>A (p.Pro293Thr)
c.*335C>A (n.*335C>A)
16g.27362652C>GCA395298414IL4Rc.1300C>G (p.Pro434Ala)
c.1255C>G (p.Pro419Ala)
c.230-1451C>G (n.230-1451C>G)
c.*1343C>G (n.*1343C>G)
c.820C>G (p.Pro274Ala)
c.409C>G (p.Pro137Ala)
c.349C>G (p.Pro117Ala)
c.1033C>G (p.Pro345Ala)
c.1003C>G (p.Pro335Ala)
c.877C>G (p.Pro293Ala)
c.*335C>G (n.*335C>G)
16g.27362652C>TCA395298416IL4Rc.1300C>T (p.Pro434Ser)
c.1255C>T (p.Pro419Ser)
c.230-1451C>T (n.230-1451C>T)
c.*1343C>T (n.*1343C>T)
c.820C>T (p.Pro274Ser)
c.409C>T (p.Pro137Ser)
c.349C>T (p.Pro117Ser)
c.1033C>T (p.Pro345Ser)
c.1003C>T (p.Pro335Ser)
c.877C>T (p.Pro293Ser)
c.*335C>T (n.*335C>T)
gnomAD v4
16g.27362653C>ACA395298417IL4Rc.1301C>A (p.Pro434Gln)
c.1256C>A (p.Pro419Gln)
c.230-1450C>A (n.230-1450C>A)
c.*1344C>A (n.*1344C>A)
c.821C>A (p.Pro274Gln)
c.410C>A (p.Pro137Gln)
c.350C>A (p.Pro117Gln)
c.1034C>A (p.Pro345Gln)
c.1004C>A (p.Pro335Gln)
c.878C>A (p.Pro293Gln)
c.*336C>A (n.*336C>A)
16g.27362653C>GCA395298418IL4Rc.1301C>G (p.Pro434Arg)
c.1256C>G (p.Pro419Arg)
c.230-1450C>G (n.230-1450C>G)
c.*1344C>G (n.*1344C>G)
c.821C>G (p.Pro274Arg)
c.410C>G (p.Pro137Arg)
c.350C>G (p.Pro117Arg)
c.1034C>G (p.Pro345Arg)
c.1004C>G (p.Pro335Arg)
c.878C>G (p.Pro293Arg)
c.*336C>G (n.*336C>G)
16g.27362653C>TCA395298419IL4Rc.1301C>T (p.Pro434Leu)
c.1256C>T (p.Pro419Leu)
c.230-1450C>T (n.230-1450C>T)
c.*1344C>T (n.*1344C>T)
c.821C>T (p.Pro274Leu)
c.410C>T (p.Pro137Leu)
c.350C>T (p.Pro117Leu)
c.1034C>T (p.Pro345Leu)
c.1004C>T (p.Pro335Leu)
c.878C>T (p.Pro293Leu)
c.*336C>T (n.*336C>T)
gnomAD v4 COSMIC
16g.27362654A>CCA494470523IL4Rc.1302A>C (p.Pro434=)
c.1257A>C (p.Pro419=)
c.230-1449A>C (n.230-1449A>C)
c.*1345A>C (n.*1345A>C)
c.822A>C (p.Pro274=)
c.411A>C (p.Pro137=)
c.351A>C (p.Pro117=)
c.1035A>C (p.Pro345=)
c.1005A>C (p.Pro335=)
c.879A>C (p.Pro293=)
c.*337A>C (n.*337A>C)
16g.27362654A>GCA494470525IL4Rc.1302A>G (p.Pro434=)
c.1257A>G (p.Pro419=)
c.230-1449A>G (n.230-1449A>G)
c.*1345A>G (n.*1345A>G)
c.822A>G (p.Pro274=)
c.411A>G (p.Pro137=)
c.351A>G (p.Pro117=)
c.1035A>G (p.Pro345=)
c.1005A>G (p.Pro335=)
c.879A>G (p.Pro293=)
c.*337A>G (n.*337A>G)
gnomAD v4
16g.27362654A>TCA494470524IL4Rc.1302A>T (p.Pro434=)
c.1257A>T (p.Pro419=)
c.230-1449A>T (n.230-1449A>T)
c.*1345A>T (n.*1345A>T)
c.822A>T (p.Pro274=)
c.411A>T (p.Pro137=)
c.351A>T (p.Pro117=)
c.1035A>T (p.Pro345=)
c.1005A>T (p.Pro335=)
c.879A>T (p.Pro293=)
c.*337A>T (n.*337A>T)
16g.27362654_27362655delinsACCA2215169591IL4Rc.1302_1303delinsAC (p.Pro434=)
c.1257_1258delinsAC (p.Pro419=)
c.230-1449_230-1448delinsAC (n.230-1449_230-1448delinsAC)
c.*1345_*1346delinsAC (n.*1345_*1346delinsAC)
c.822_823delinsAC (p.Pro274=)
c.411_412delinsAC (p.Pro137=)
c.351_352delinsAC (p.Pro117=)
c.1035_1036delinsAC (p.Pro345=)
c.1005_1006delinsAC (p.Pro335=)
c.879_880delinsAC (p.Pro293=)
c.*337_*338delinsAC (n.*337_*338delinsAC)
16g.27362655C>ACA395298420IL4Rc.1303C>A (p.Pro435Thr)
c.1258C>A (p.Pro420Thr)
c.230-1448C>A (n.230-1448C>A)
c.*1346C>A (n.*1346C>A)
c.823C>A (p.Pro275Thr)
c.412C>A (p.Pro138Thr)
c.352C>A (p.Pro118Thr)
c.1036C>A (p.Pro346Thr)
c.1006C>A (p.Pro336Thr)
c.880C>A (p.Pro294Thr)
c.*338C>A (n.*338C>A)
16g.27362655C=CA2215169597IL4Rc.1303C= (p.Pro435=)
c.1258C= (p.Pro420=)
c.230-1448C= (n.230-1448C=)
c.*1346C= (n.*1346C=)
c.823C= (p.Pro275=)
c.412C= (p.Pro138=)
c.352C= (p.Pro118=)
c.1036C= (p.Pro346=)
c.1006C= (p.Pro336=)
c.880C= (p.Pro294=)
c.*338C= (n.*338C=)
16g.27362655C>GCA395298421IL4Rc.1303C>G (p.Pro435Ala)
c.1258C>G (p.Pro420Ala)
c.230-1448C>G (n.230-1448C>G)
c.*1346C>G (n.*1346C>G)
c.823C>G (p.Pro275Ala)
c.412C>G (p.Pro138Ala)
c.352C>G (p.Pro118Ala)
c.1036C>G (p.Pro346Ala)
c.1006C>G (p.Pro336Ala)
c.880C>G (p.Pro294Ala)
c.*338C>G (n.*338C>G)
16g.27362655C>TCA7974534IL4Rc.1303C>T (p.Pro435Ser)
c.1258C>T (p.Pro420Ser)
c.230-1448C>T (n.230-1448C>T)
c.*1346C>T (n.*1346C>T)
c.823C>T (p.Pro275Ser)
c.412C>T (p.Pro138Ser)
c.352C>T (p.Pro118Ser)
c.1036C>T (p.Pro346Ser)
c.1006C>T (p.Pro336Ser)
c.880C>T (p.Pro294Ser)
c.*338C>T (n.*338C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362656delCA494470526IL4Rc.1304del (p.Pro435LeufsTer?)
c.1259del (p.Pro420LeufsTer?)
c.230-1447del (n.230-1447del)
c.*1347del (n.*1347del)
c.824del (p.Pro275LeufsTer?)
c.413del (p.Pro138LeufsTer?)
c.353del (p.Pro118LeufsTer?)
c.1037del (p.Pro346LeufsTer?)
c.1007del (p.Pro336LeufsTer?)
c.881del (p.Pro294LeufsTer?)
c.*339del (n.*339del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362656C>ACA395298424IL4Rc.1304C>A (p.Pro435His)
c.1259C>A (p.Pro420His)
c.230-1447C>A (n.230-1447C>A)
c.*1347C>A (n.*1347C>A)
c.824C>A (p.Pro275His)
c.413C>A (p.Pro138His)
c.353C>A (p.Pro118His)
c.1037C>A (p.Pro346His)
c.1007C>A (p.Pro336His)
c.881C>A (p.Pro294His)
c.*339C>A (n.*339C>A)
16g.27362656C=CA2215169598IL4Rc.1304C= (p.Pro435=)
c.1259C= (p.Pro420=)
c.230-1447C= (n.230-1447C=)
c.*1347C= (n.*1347C=)
c.824C= (p.Pro275=)
c.413C= (p.Pro138=)
c.353C= (p.Pro118=)
c.1037C= (p.Pro346=)
c.1007C= (p.Pro336=)
c.881C= (p.Pro294=)
c.*339C= (n.*339C=)
16g.27362656C>GCA395298423IL4Rc.1304C>G (p.Pro435Arg)
c.1259C>G (p.Pro420Arg)
c.230-1447C>G (n.230-1447C>G)
c.*1347C>G (n.*1347C>G)
c.824C>G (p.Pro275Arg)
c.413C>G (p.Pro138Arg)
c.353C>G (p.Pro118Arg)
c.1037C>G (p.Pro346Arg)
c.1007C>G (p.Pro336Arg)
c.881C>G (p.Pro294Arg)
c.*339C>G (n.*339C>G)
COSMIC
16g.27362656C>TCA395298422IL4Rc.1304C>T (p.Pro435Leu)
c.1259C>T (p.Pro420Leu)
c.230-1447C>T (n.230-1447C>T)
c.*1347C>T (n.*1347C>T)
c.824C>T (p.Pro275Leu)
c.413C>T (p.Pro138Leu)
c.353C>T (p.Pro118Leu)
c.1037C>T (p.Pro346Leu)
c.1007C>T (p.Pro336Leu)
c.881C>T (p.Pro294Leu)
c.*339C>T (n.*339C>T)
dbSNP gnomAD v2 gnomAD v4
16g.27362657T>ACA494470527IL4Rc.1305T>A (p.Pro435=)
c.1260T>A (p.Pro420=)
c.230-1446T>A (n.230-1446T>A)
c.*1348T>A (n.*1348T>A)
c.825T>A (p.Pro275=)
c.414T>A (p.Pro138=)
c.354T>A (p.Pro118=)
c.1038T>A (p.Pro346=)
c.1008T>A (p.Pro336=)
c.882T>A (p.Pro294=)
c.*340T>A (n.*340T>A)
16g.27362657T>CCA494470528IL4Rc.1305T>C (p.Pro435=)
c.1260T>C (p.Pro420=)
c.230-1446T>C (n.230-1446T>C)
c.*1348T>C (n.*1348T>C)
c.825T>C (p.Pro275=)
c.414T>C (p.Pro138=)
c.354T>C (p.Pro118=)
c.1038T>C (p.Pro346=)
c.1008T>C (p.Pro336=)
c.882T>C (p.Pro294=)
c.*340T>C (n.*340T>C)
16g.27362657T>GCA494470529IL4Rc.1305T>G (p.Pro435=)
c.1260T>G (p.Pro420=)
c.230-1446T>G (n.230-1446T>G)
c.*1348T>G (n.*1348T>G)
c.825T>G (p.Pro275=)
c.414T>G (p.Pro138=)
c.354T>G (p.Pro118=)
c.1038T>G (p.Pro346=)
c.1008T>G (p.Pro336=)
c.882T>G (p.Pro294=)
c.*340T>G (n.*340T>G)
16g.27362658T>ACA395298426IL4Rc.1306T>A (p.Ser436Thr)
c.1261T>A (p.Ser421Thr)
c.230-1445T>A (n.230-1445T>A)
c.*1349T>A (n.*1349T>A)
c.826T>A (p.Ser276Thr)
c.415T>A (p.Ser139Thr)
c.355T>A (p.Ser119Thr)
c.1039T>A (p.Ser347Thr)
c.1009T>A (p.Ser337Thr)
c.883T>A (p.Ser295Thr)
c.*341T>A (n.*341T>A)
16g.27362658T>CCA395298427IL4Rc.1306T>C (p.Ser436Pro)
c.1261T>C (p.Ser421Pro)
c.230-1445T>C (n.230-1445T>C)
c.*1349T>C (n.*1349T>C)
c.826T>C (p.Ser276Pro)
c.415T>C (p.Ser139Pro)
c.355T>C (p.Ser119Pro)
c.1039T>C (p.Ser347Pro)
c.1009T>C (p.Ser337Pro)
c.883T>C (p.Ser295Pro)
c.*341T>C (n.*341T>C)
16g.27362658T>GCA395298429IL4Rc.1306T>G (p.Ser436Ala)
c.1261T>G (p.Ser421Ala)
c.230-1445T>G (n.230-1445T>G)
c.*1349T>G (n.*1349T>G)
c.826T>G (p.Ser276Ala)
c.415T>G (p.Ser139Ala)
c.355T>G (p.Ser119Ala)
c.1039T>G (p.Ser347Ala)
c.1009T>G (p.Ser337Ala)
c.883T>G (p.Ser295Ala)
c.*341T>G (n.*341T>G)
16g.27362659C>ACA395298432IL4Rc.1307C>A (p.Ser436Ter)
c.1262C>A (p.Ser421Ter)
c.230-1444C>A (n.230-1444C>A)
c.*1350C>A (n.*1350C>A)
c.827C>A (p.Ser276Ter)
c.416C>A (p.Ser139Ter)
c.356C>A (p.Ser119Ter)
c.1040C>A (p.Ser347Ter)
c.1010C>A (p.Ser337Ter)
c.884C>A (p.Ser295Ter)
c.*342C>A (n.*342C>A)
gnomAD v4
16g.27362659C=CA2215169599IL4Rc.1307C= (p.Ser436=)
c.1262C= (p.Ser421=)
c.230-1444C= (n.230-1444C=)
c.*1350C= (n.*1350C=)
c.827C= (p.Ser276=)
c.416C= (p.Ser139=)
c.356C= (p.Ser119=)
c.1040C= (p.Ser347=)
c.1010C= (p.Ser337=)
c.884C= (p.Ser295=)
c.*342C= (n.*342C=)
16g.27362659C>GCA395298433IL4Rc.1307C>G (p.Ser436Trp)
c.1262C>G (p.Ser421Trp)
c.230-1444C>G (n.230-1444C>G)
c.*1350C>G (n.*1350C>G)
c.827C>G (p.Ser276Trp)
c.416C>G (p.Ser139Trp)
c.356C>G (p.Ser119Trp)
c.1040C>G (p.Ser347Trp)
c.1010C>G (p.Ser337Trp)
c.884C>G (p.Ser295Trp)
c.*342C>G (n.*342C>G)
dbSNP
16g.27362659C>TCA7974535IL4Rc.1307C>T (p.Ser436Leu)
c.1262C>T (p.Ser421Leu)
c.230-1444C>T (n.230-1444C>T)
c.*1350C>T (n.*1350C>T)
c.827C>T (p.Ser276Leu)
c.416C>T (p.Ser139Leu)
c.356C>T (p.Ser119Leu)
c.1040C>T (p.Ser347Leu)
c.1010C>T (p.Ser337Leu)
c.884C>T (p.Ser295Leu)
c.*342C>T (n.*342C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362660G>ACA7974536IL4Rc.1308G>A (p.Ser436=)
c.1263G>A (p.Ser421=)
c.230-1443G>A (n.230-1443G>A)
c.*1351G>A (n.*1351G>A)
c.828G>A (p.Ser276=)
c.417G>A (p.Ser139=)
c.357G>A (p.Ser119=)
c.1041G>A (p.Ser347=)
c.1011G>A (p.Ser337=)
c.885G>A (p.Ser295=)
c.*343G>A (n.*343G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362660G>CCA494470530IL4Rc.1308G>C (p.Ser436=)
c.1263G>C (p.Ser421=)
c.230-1443G>C (n.230-1443G>C)
c.*1351G>C (n.*1351G>C)
c.828G>C (p.Ser276=)
c.417G>C (p.Ser139=)
c.357G>C (p.Ser119=)
c.1041G>C (p.Ser347=)
c.1011G>C (p.Ser337=)
c.885G>C (p.Ser295=)
c.*343G>C (n.*343G>C)
gnomAD v4
16g.27362660G=CA2215169602IL4Rc.1308G= (p.Ser436=)
c.1263G= (p.Ser421=)
c.230-1443G= (n.230-1443G=)
c.*1351G= (n.*1351G=)
c.828G= (p.Ser276=)
c.417G= (p.Ser139=)
c.357G= (p.Ser119=)
c.1041G= (p.Ser347=)
c.1011G= (p.Ser337=)
c.885G= (p.Ser295=)
c.*343G= (n.*343G=)
16g.27362660G>TCA494470531IL4Rc.1308G>T (p.Ser436=)
c.1263G>T (p.Ser421=)
c.230-1443G>T (n.230-1443G>T)
c.*1351G>T (n.*1351G>T)
c.828G>T (p.Ser276=)
c.417G>T (p.Ser139=)
c.357G>T (p.Ser119=)
c.1041G>T (p.Ser347=)
c.1011G>T (p.Ser337=)
c.885G>T (p.Ser295=)
c.*343G>T (n.*343G>T)
gnomAD v4
16g.27362661G>ACA395298439IL4Rc.1309G>A (p.Gly437Arg)
c.1264G>A (p.Gly422Arg)
c.230-1442G>A (n.230-1442G>A)
c.*1352G>A (n.*1352G>A)
c.829G>A (p.Gly277Arg)
c.418G>A (p.Gly140Arg)
c.358G>A (p.Gly120Arg)
c.1042G>A (p.Gly348Arg)
c.1012G>A (p.Gly338Arg)
c.886G>A (p.Gly296Arg)
c.*344G>A (n.*344G>A)
16g.27362661G>CCA395298441IL4Rc.1309G>C (p.Gly437Arg)
c.1264G>C (p.Gly422Arg)
c.230-1442G>C (n.230-1442G>C)
c.*1352G>C (n.*1352G>C)
c.829G>C (p.Gly277Arg)
c.418G>C (p.Gly140Arg)
c.358G>C (p.Gly120Arg)
c.1042G>C (p.Gly348Arg)
c.1012G>C (p.Gly338Arg)
c.886G>C (p.Gly296Arg)
c.*344G>C (n.*344G>C)
16g.27362661G>TCA395298444IL4Rc.1309G>T (p.Gly437Ter)
c.1264G>T (p.Gly422Ter)
c.230-1442G>T (n.230-1442G>T)
c.*1352G>T (n.*1352G>T)
c.829G>T (p.Gly277Ter)
c.418G>T (p.Gly140Ter)
c.358G>T (p.Gly120Ter)
c.1042G>T (p.Gly348Ter)
c.1012G>T (p.Gly338Ter)
c.886G>T (p.Gly296Ter)
c.*344G>T (n.*344G>T)
16g.27362662G>ACA395298446IL4Rc.1310G>A (p.Gly437Glu)
c.1265G>A (p.Gly422Glu)
c.230-1441G>A (n.230-1441G>A)
c.*1353G>A (n.*1353G>A)
c.830G>A (p.Gly277Glu)
c.419G>A (p.Gly140Glu)
c.359G>A (p.Gly120Glu)
c.1043G>A (p.Gly348Glu)
c.1013G>A (p.Gly338Glu)
c.887G>A (p.Gly296Glu)
c.*345G>A (n.*345G>A)
16g.27362662G>CCA395298448IL4Rc.1310G>C (p.Gly437Ala)
c.1265G>C (p.Gly422Ala)
c.230-1441G>C (n.230-1441G>C)
c.*1353G>C (n.*1353G>C)
c.830G>C (p.Gly277Ala)
c.419G>C (p.Gly140Ala)
c.359G>C (p.Gly120Ala)
c.1043G>C (p.Gly348Ala)
c.1013G>C (p.Gly338Ala)
c.887G>C (p.Gly296Ala)
c.*345G>C (n.*345G>C)
16g.27362662G>TCA395298450IL4Rc.1310G>T (p.Gly437Val)
c.1265G>T (p.Gly422Val)
c.230-1441G>T (n.230-1441G>T)
c.*1353G>T (n.*1353G>T)
c.830G>T (p.Gly277Val)
c.419G>T (p.Gly140Val)
c.359G>T (p.Gly120Val)
c.1043G>T (p.Gly348Val)
c.1013G>T (p.Gly338Val)
c.887G>T (p.Gly296Val)
c.*345G>T (n.*345G>T)
16g.27362663A=CA2215169605IL4Rc.1311A= (p.Gly437=)
c.1266A= (p.Gly422=)
c.230-1440A= (n.230-1440A=)
c.*1354A= (n.*1354A=)
c.831A= (p.Gly277=)
c.420A= (p.Gly140=)
c.360A= (p.Gly120=)
c.1044A= (p.Gly348=)
c.1014A= (p.Gly338=)
c.888A= (p.Gly296=)
c.*346A= (n.*346A=)
16g.27362663A>CCA494470534IL4Rc.1311A>C (p.Gly437=)
c.1266A>C (p.Gly422=)
c.230-1440A>C (n.230-1440A>C)
c.*1354A>C (n.*1354A>C)
c.831A>C (p.Gly277=)
c.420A>C (p.Gly140=)
c.360A>C (p.Gly120=)
c.1044A>C (p.Gly348=)
c.1014A>C (p.Gly338=)
c.888A>C (p.Gly296=)
c.*346A>C (n.*346A>C)
dbSNP gnomAD v2 gnomAD v4
16g.27362663A>GCA494470533IL4Rc.1311A>G (p.Gly437=)
c.1266A>G (p.Gly422=)
c.230-1440A>G (n.230-1440A>G)
c.*1354A>G (n.*1354A>G)
c.831A>G (p.Gly277=)
c.420A>G (p.Gly140=)
c.360A>G (p.Gly120=)
c.1044A>G (p.Gly348=)
c.1014A>G (p.Gly338=)
c.888A>G (p.Gly296=)
c.*346A>G (n.*346A>G)
16g.27362663A>TCA494470532IL4Rc.1311A>T (p.Gly437=)
c.1266A>T (p.Gly422=)
c.230-1440A>T (n.230-1440A>T)
c.*1354A>T (n.*1354A>T)
c.831A>T (p.Gly277=)
c.420A>T (p.Gly140=)
c.360A>T (p.Gly120=)
c.1044A>T (p.Gly348=)
c.1014A>T (p.Gly338=)
c.888A>T (p.Gly296=)
c.*346A>T (n.*346A>T)
16g.27362664A=CA2215169606IL4Rc.1312A= (p.Ser438=)
c.1267A= (p.Ser423=)
c.230-1439A= (n.230-1439A=)
c.*1355A= (n.*1355A=)
c.832A= (p.Ser278=)
c.421A= (p.Ser141=)
c.361A= (p.Ser121=)
c.1045A= (p.Ser349=)
c.1015A= (p.Ser339=)
c.889A= (p.Ser297=)
c.*347A= (n.*347A=)
16g.27362664A>CCA7974537IL4Rc.1312A>C (p.Ser438Arg)
c.1267A>C (p.Ser423Arg)
c.230-1439A>C (n.230-1439A>C)
c.*1355A>C (n.*1355A>C)
c.832A>C (p.Ser278Arg)
c.421A>C (p.Ser141Arg)
c.361A>C (p.Ser121Arg)
c.1045A>C (p.Ser349Arg)
c.1015A>C (p.Ser339Arg)
c.889A>C (p.Ser297Arg)
c.*347A>C (n.*347A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362664A>GCA395298459IL4Rc.1312A>G (p.Ser438Gly)
c.1267A>G (p.Ser423Gly)
c.230-1439A>G (n.230-1439A>G)
c.*1355A>G (n.*1355A>G)
c.832A>G (p.Ser278Gly)
c.421A>G (p.Ser141Gly)
c.361A>G (p.Ser121Gly)
c.1045A>G (p.Ser349Gly)
c.1015A>G (p.Ser339Gly)
c.889A>G (p.Ser297Gly)
c.*347A>G (n.*347A>G)
COSMIC
16g.27362664A>TCA395298454IL4Rc.1312A>T (p.Ser438Cys)
c.1267A>T (p.Ser423Cys)
c.230-1439A>T (n.230-1439A>T)
c.*1355A>T (n.*1355A>T)
c.832A>T (p.Ser278Cys)
c.421A>T (p.Ser141Cys)
c.361A>T (p.Ser121Cys)
c.1045A>T (p.Ser349Cys)
c.1015A>T (p.Ser339Cys)
c.889A>T (p.Ser297Cys)
c.*347A>T (n.*347A>T)
dbSNP gnomAD v2 gnomAD v4
16g.27362665G>ACA395298461IL4Rc.1313G>A (p.Ser438Asn)
c.1268G>A (p.Ser423Asn)
c.230-1438G>A (n.230-1438G>A)
c.*1356G>A (n.*1356G>A)
c.833G>A (p.Ser278Asn)
c.422G>A (p.Ser141Asn)
c.362G>A (p.Ser121Asn)
c.1046G>A (p.Ser349Asn)
c.1016G>A (p.Ser339Asn)
c.890G>A (p.Ser297Asn)
c.*348G>A (n.*348G>A)
dbSNP gnomAD v4
16g.27362665G>CCA395298465IL4Rc.1313G>C (p.Ser438Thr)
c.1268G>C (p.Ser423Thr)
c.230-1438G>C (n.230-1438G>C)
c.*1356G>C (n.*1356G>C)
c.833G>C (p.Ser278Thr)
c.422G>C (p.Ser141Thr)
c.362G>C (p.Ser121Thr)
c.1046G>C (p.Ser349Thr)
c.1016G>C (p.Ser339Thr)
c.890G>C (p.Ser297Thr)
c.*348G>C (n.*348G>C)
16g.27362665G=CA2215169608IL4Rc.1313G= (p.Ser438=)
c.1268G= (p.Ser423=)
c.230-1438G= (n.230-1438G=)
c.*1356G= (n.*1356G=)
c.833G= (p.Ser278=)
c.422G= (p.Ser141=)
c.362G= (p.Ser121=)
c.1046G= (p.Ser349=)
c.1016G= (p.Ser339=)
c.890G= (p.Ser297=)
c.*348G= (n.*348G=)
16g.27362665G>TCA395298464IL4Rc.1313G>T (p.Ser438Ile)
c.1268G>T (p.Ser423Ile)
c.230-1438G>T (n.230-1438G>T)
c.*1356G>T (n.*1356G>T)
c.833G>T (p.Ser278Ile)
c.422G>T (p.Ser141Ile)
c.362G>T (p.Ser121Ile)
c.1046G>T (p.Ser349Ile)
c.1016G>T (p.Ser339Ile)
c.890G>T (p.Ser297Ile)
c.*348G>T (n.*348G>T)
COSMIC
16g.27362666T>ACA395298467IL4Rc.1314T>A (p.Ser438Arg)
c.1269T>A (p.Ser423Arg)
c.230-1437T>A (n.230-1437T>A)
c.*1357T>A (n.*1357T>A)
c.834T>A (p.Ser278Arg)
c.423T>A (p.Ser141Arg)
c.363T>A (p.Ser121Arg)
c.1047T>A (p.Ser349Arg)
c.1017T>A (p.Ser339Arg)
c.891T>A (p.Ser297Arg)
c.*349T>A (n.*349T>A)
16g.27362666T>CCA494470535IL4Rc.1314T>C (p.Ser438=)
c.1269T>C (p.Ser423=)
c.230-1437T>C (n.230-1437T>C)
c.*1357T>C (n.*1357T>C)
c.834T>C (p.Ser278=)
c.423T>C (p.Ser141=)
c.363T>C (p.Ser121=)
c.1047T>C (p.Ser349=)
c.1017T>C (p.Ser339=)
c.891T>C (p.Ser297=)
c.*349T>C (n.*349T>C)
16g.27362666T>GCA395298469IL4Rc.1314T>G (p.Ser438Arg)
c.1269T>G (p.Ser423Arg)
c.230-1437T>G (n.230-1437T>G)
c.*1357T>G (n.*1357T>G)
c.834T>G (p.Ser278Arg)
c.423T>G (p.Ser141Arg)
c.363T>G (p.Ser121Arg)
c.1047T>G (p.Ser349Arg)
c.1017T>G (p.Ser339Arg)
c.891T>G (p.Ser297Arg)
c.*349T>G (n.*349T>G)
16g.27362667A>CCA395298472IL4Rc.1315A>C (p.Thr439Pro)
c.1270A>C (p.Thr424Pro)
c.230-1436A>C (n.230-1436A>C)
c.*1358A>C (n.*1358A>C)
c.835A>C (p.Thr279Pro)
c.424A>C (p.Thr142Pro)
c.364A>C (p.Thr122Pro)
c.1048A>C (p.Thr350Pro)
c.1018A>C (p.Thr340Pro)
c.892A>C (p.Thr298Pro)
c.*350A>C (n.*350A>C)
16g.27362667A>GCA395298473IL4Rc.1315A>G (p.Thr439Ala)
c.1270A>G (p.Thr424Ala)
c.230-1436A>G (n.230-1436A>G)
c.*1358A>G (n.*1358A>G)
c.835A>G (p.Thr279Ala)
c.424A>G (p.Thr142Ala)
c.364A>G (p.Thr122Ala)
c.1048A>G (p.Thr350Ala)
c.1018A>G (p.Thr340Ala)
c.892A>G (p.Thr298Ala)
c.*350A>G (n.*350A>G)
16g.27362667A>TCA395298474IL4Rc.1315A>T (p.Thr439Ser)
c.1270A>T (p.Thr424Ser)
c.230-1436A>T (n.230-1436A>T)
c.*1358A>T (n.*1358A>T)
c.835A>T (p.Thr279Ser)
c.424A>T (p.Thr142Ser)
c.364A>T (p.Thr122Ser)
c.1048A>T (p.Thr350Ser)
c.1018A>T (p.Thr340Ser)
c.892A>T (p.Thr298Ser)
c.*350A>T (n.*350A>T)
16g.27362668C>ACA395298475IL4Rc.1316C>A (p.Thr439Lys)
c.1271C>A (p.Thr424Lys)
c.230-1435C>A (n.230-1435C>A)
c.*1359C>A (n.*1359C>A)
c.836C>A (p.Thr279Lys)
c.425C>A (p.Thr142Lys)
c.365C>A (p.Thr122Lys)
c.1049C>A (p.Thr350Lys)
c.1019C>A (p.Thr340Lys)
c.893C>A (p.Thr298Lys)
c.*351C>A (n.*351C>A)
dbSNP gnomAD v2
16g.27362668C=CA2215169610IL4Rc.1316C= (p.Thr439=)
c.1271C= (p.Thr424=)
c.230-1435C= (n.230-1435C=)
c.*1359C= (n.*1359C=)
c.836C= (p.Thr279=)
c.425C= (p.Thr142=)
c.365C= (p.Thr122=)
c.1049C= (p.Thr350=)
c.1019C= (p.Thr340=)
c.893C= (p.Thr298=)
c.*351C= (n.*351C=)
16g.27362668C>GCA395298476IL4Rc.1316C>G (p.Thr439Arg)
c.1271C>G (p.Thr424Arg)
c.230-1435C>G (n.230-1435C>G)
c.*1359C>G (n.*1359C>G)
c.836C>G (p.Thr279Arg)
c.425C>G (p.Thr142Arg)
c.365C>G (p.Thr122Arg)
c.1049C>G (p.Thr350Arg)
c.1019C>G (p.Thr340Arg)
c.893C>G (p.Thr298Arg)
c.*351C>G (n.*351C>G)
16g.27362668C>TCA7974538IL4Rc.1316C>T (p.Thr439Met)
c.1271C>T (p.Thr424Met)
c.230-1435C>T (n.230-1435C>T)
c.*1359C>T (n.*1359C>T)
c.836C>T (p.Thr279Met)
c.425C>T (p.Thr142Met)
c.365C>T (p.Thr122Met)
c.1049C>T (p.Thr350Met)
c.1019C>T (p.Thr340Met)
c.893C>T (p.Thr298Met)
c.*351C>T (n.*351C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362669G>ACA494470536IL4Rc.1317G>A (p.Thr439=)
c.1272G>A (p.Thr424=)
c.230-1434G>A (n.230-1434G>A)
c.*1360G>A (n.*1360G>A)
c.837G>A (p.Thr279=)
c.426G>A (p.Thr142=)
c.366G>A (p.Thr122=)
c.1050G>A (p.Thr350=)
c.1020G>A (p.Thr340=)
c.894G>A (p.Thr298=)
c.*352G>A (n.*352G>A)
dbSNP gnomAD v2 gnomAD v4
16g.27362669G>CCA494470537IL4Rc.1317G>C (p.Thr439=)
c.1272G>C (p.Thr424=)
c.230-1434G>C (n.230-1434G>C)
c.*1360G>C (n.*1360G>C)
c.837G>C (p.Thr279=)
c.426G>C (p.Thr142=)
c.366G>C (p.Thr122=)
c.1050G>C (p.Thr350=)
c.1020G>C (p.Thr340=)
c.894G>C (p.Thr298=)
c.*352G>C (n.*352G>C)
16g.27362669G=CA2215169616IL4Rc.1317G= (p.Thr439=)
c.1272G= (p.Thr424=)
c.230-1434G= (n.230-1434G=)
c.*1360G= (n.*1360G=)
c.837G= (p.Thr279=)
c.426G= (p.Thr142=)
c.366G= (p.Thr122=)
c.1050G= (p.Thr350=)
c.1020G= (p.Thr340=)
c.894G= (p.Thr298=)
c.*352G= (n.*352G=)
16g.27362669G>TCA494470538IL4Rc.1317G>T (p.Thr439=)
c.1272G>T (p.Thr424=)
c.230-1434G>T (n.230-1434G>T)
c.*1360G>T (n.*1360G>T)
c.837G>T (p.Thr279=)
c.426G>T (p.Thr142=)
c.366G>T (p.Thr122=)
c.1050G>T (p.Thr350=)
c.1020G>T (p.Thr340=)
c.894G>T (p.Thr298=)
c.*352G>T (n.*352G>T)
16g.27362670A>CCA395298480IL4Rc.1318A>C (p.Ser440Arg)
c.1273A>C (p.Ser425Arg)
c.230-1433A>C (n.230-1433A>C)
c.*1361A>C (n.*1361A>C)
c.838A>C (p.Ser280Arg)
c.427A>C (p.Ser143Arg)
c.367A>C (p.Ser123Arg)
c.1051A>C (p.Ser351Arg)
c.1021A>C (p.Ser341Arg)
c.895A>C (p.Ser299Arg)
c.*353A>C (n.*353A>C)
16g.27362670A>GCA395298483IL4Rc.1318A>G (p.Ser440Gly)
c.1273A>G (p.Ser425Gly)
c.230-1433A>G (n.230-1433A>G)
c.*1361A>G (n.*1361A>G)
c.838A>G (p.Ser280Gly)
c.427A>G (p.Ser143Gly)
c.367A>G (p.Ser123Gly)
c.1051A>G (p.Ser351Gly)
c.1021A>G (p.Ser341Gly)
c.895A>G (p.Ser299Gly)
c.*353A>G (n.*353A>G)
16g.27362670A>TCA395298485IL4Rc.1318A>T (p.Ser440Cys)
c.1273A>T (p.Ser425Cys)
c.230-1433A>T (n.230-1433A>T)
c.*1361A>T (n.*1361A>T)
c.838A>T (p.Ser280Cys)
c.427A>T (p.Ser143Cys)
c.367A>T (p.Ser123Cys)
c.1051A>T (p.Ser351Cys)
c.1021A>T (p.Ser341Cys)
c.895A>T (p.Ser299Cys)
c.*353A>T (n.*353A>T)
16g.27362671G>ACA395298493IL4Rc.1319G>A (p.Ser440Asn)
c.1274G>A (p.Ser425Asn)
c.230-1432G>A (n.230-1432G>A)
c.*1362G>A (n.*1362G>A)
c.839G>A (p.Ser280Asn)
c.428G>A (p.Ser143Asn)
c.368G>A (p.Ser123Asn)
c.1052G>A (p.Ser351Asn)
c.1022G>A (p.Ser341Asn)
c.896G>A (p.Ser299Asn)
c.*354G>A (n.*354G>A)
16g.27362671G>CCA395298491IL4Rc.1319G>C (p.Ser440Thr)
c.1274G>C (p.Ser425Thr)
c.230-1432G>C (n.230-1432G>C)
c.*1362G>C (n.*1362G>C)
c.839G>C (p.Ser280Thr)
c.428G>C (p.Ser143Thr)
c.368G>C (p.Ser123Thr)
c.1052G>C (p.Ser351Thr)
c.1022G>C (p.Ser341Thr)
c.896G>C (p.Ser299Thr)
c.*354G>C (n.*354G>C)
16g.27362671G>TCA395298489IL4Rc.1319G>T (p.Ser440Ile)
c.1274G>T (p.Ser425Ile)
c.230-1432G>T (n.230-1432G>T)
c.*1362G>T (n.*1362G>T)
c.839G>T (p.Ser280Ile)
c.428G>T (p.Ser143Ile)
c.368G>T (p.Ser123Ile)
c.1052G>T (p.Ser351Ile)
c.1022G>T (p.Ser341Ile)
c.896G>T (p.Ser299Ile)
c.*354G>T (n.*354G>T)
16g.27362672T>ACA395298496IL4Rc.1320T>A (p.Ser440Arg)
c.1275T>A (p.Ser425Arg)
c.230-1431T>A (n.230-1431T>A)
c.*1363T>A (n.*1363T>A)
c.840T>A (p.Ser280Arg)
c.429T>A (p.Ser143Arg)
c.369T>A (p.Ser123Arg)
c.1053T>A (p.Ser351Arg)
c.1023T>A (p.Ser341Arg)
c.897T>A (p.Ser299Arg)
c.*355T>A (n.*355T>A)
16g.27362672T>CCA494470539IL4Rc.1320T>C (p.Ser440=)
c.1275T>C (p.Ser425=)
c.230-1431T>C (n.230-1431T>C)
c.*1363T>C (n.*1363T>C)
c.840T>C (p.Ser280=)
c.429T>C (p.Ser143=)
c.369T>C (p.Ser123=)
c.1053T>C (p.Ser351=)
c.1023T>C (p.Ser341=)
c.897T>C (p.Ser299=)
c.*355T>C (n.*355T>C)
16g.27362672T>GCA395298499IL4Rc.1320T>G (p.Ser440Arg)
c.1275T>G (p.Ser425Arg)
c.230-1431T>G (n.230-1431T>G)
c.*1363T>G (n.*1363T>G)
c.840T>G (p.Ser280Arg)
c.429T>G (p.Ser143Arg)
c.369T>G (p.Ser123Arg)
c.1053T>G (p.Ser351Arg)
c.1023T>G (p.Ser341Arg)
c.897T>G (p.Ser299Arg)
c.*355T>G (n.*355T>G)
16g.27362673G>ACA395298501IL4Rc.1321G>A (p.Ala441Thr)
c.1276G>A (p.Ala426Thr)
c.230-1430G>A (n.230-1430G>A)
c.*1364G>A (n.*1364G>A)
c.841G>A (p.Ala281Thr)
c.430G>A (p.Ala144Thr)
c.370G>A (p.Ala124Thr)
c.1054G>A (p.Ala352Thr)
c.1024G>A (p.Ala342Thr)
c.898G>A (p.Ala300Thr)
c.*356G>A (n.*356G>A)
dbSNP gnomAD v4
16g.27362673G>CCA395298503IL4Rc.1321G>C (p.Ala441Pro)
c.1276G>C (p.Ala426Pro)
c.230-1430G>C (n.230-1430G>C)
c.*1364G>C (n.*1364G>C)
c.841G>C (p.Ala281Pro)
c.430G>C (p.Ala144Pro)
c.370G>C (p.Ala124Pro)
c.1054G>C (p.Ala352Pro)
c.1024G>C (p.Ala342Pro)
c.898G>C (p.Ala300Pro)
c.*356G>C (n.*356G>C)
16g.27362673G>TCA395298505IL4Rc.1321G>T (p.Ala441Ser)
c.1276G>T (p.Ala426Ser)
c.230-1430G>T (n.230-1430G>T)
c.*1364G>T (n.*1364G>T)
c.841G>T (p.Ala281Ser)
c.430G>T (p.Ala144Ser)
c.370G>T (p.Ala124Ser)
c.1054G>T (p.Ala352Ser)
c.1024G>T (p.Ala342Ser)
c.898G>T (p.Ala300Ser)
c.*356G>T (n.*356G>T)
16g.27362674C>ACA395298508IL4Rc.1322C>A (p.Ala441Asp)
c.1277C>A (p.Ala426Asp)
c.230-1429C>A (n.230-1429C>A)
c.*1365C>A (n.*1365C>A)
c.842C>A (p.Ala281Asp)
c.431C>A (p.Ala144Asp)
c.371C>A (p.Ala124Asp)
c.1055C>A (p.Ala352Asp)
c.1025C>A (p.Ala342Asp)
c.899C>A (p.Ala300Asp)
c.*357C>A (n.*357C>A)
16g.27362674C=CA2215169618IL4Rc.1322C= (p.Ala441=)
c.1277C= (p.Ala426=)
c.230-1429C= (n.230-1429C=)
c.*1365C= (n.*1365C=)
c.842C= (p.Ala281=)
c.431C= (p.Ala144=)
c.371C= (p.Ala124=)
c.1055C= (p.Ala352=)
c.1025C= (p.Ala342=)
c.899C= (p.Ala300=)
c.*357C= (n.*357C=)
16g.27362674C>GCA395298510IL4Rc.1322C>G (p.Ala441Gly)
c.1277C>G (p.Ala426Gly)
c.230-1429C>G (n.230-1429C>G)
c.*1365C>G (n.*1365C>G)
c.842C>G (p.Ala281Gly)
c.431C>G (p.Ala144Gly)
c.371C>G (p.Ala124Gly)
c.1055C>G (p.Ala352Gly)
c.1025C>G (p.Ala342Gly)
c.899C>G (p.Ala300Gly)
c.*357C>G (n.*357C>G)
16g.27362674C>TCA7974539IL4Rc.1322C>T (p.Ala441Val)
c.1277C>T (p.Ala426Val)
c.230-1429C>T (n.230-1429C>T)
c.*1365C>T (n.*1365C>T)
c.842C>T (p.Ala281Val)
c.431C>T (p.Ala144Val)
c.371C>T (p.Ala124Val)
c.1055C>T (p.Ala352Val)
c.1025C>T (p.Ala342Val)
c.899C>T (p.Ala300Val)
c.*357C>T (n.*357C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362675T>ACA494470540IL4Rc.1323T>A (p.Ala441=)
c.1278T>A (p.Ala426=)
c.230-1428T>A (n.230-1428T>A)
c.*1366T>A (n.*1366T>A)
c.843T>A (p.Ala281=)
c.432T>A (p.Ala144=)
c.372T>A (p.Ala124=)
c.1056T>A (p.Ala352=)
c.1026T>A (p.Ala342=)
c.900T>A (p.Ala300=)
c.*358T>A (n.*358T>A)
16g.27362675T>CCA494470542IL4Rc.1323T>C (p.Ala441=)
c.1278T>C (p.Ala426=)
c.230-1428T>C (n.230-1428T>C)
c.*1366T>C (n.*1366T>C)
c.843T>C (p.Ala281=)
c.432T>C (p.Ala144=)
c.372T>C (p.Ala124=)
c.1056T>C (p.Ala352=)
c.1026T>C (p.Ala342=)
c.900T>C (p.Ala300=)
c.*358T>C (n.*358T>C)
16g.27362675T>GCA494470541IL4Rc.1323T>G (p.Ala441=)
c.1278T>G (p.Ala426=)
c.230-1428T>G (n.230-1428T>G)
c.*1366T>G (n.*1366T>G)
c.843T>G (p.Ala281=)
c.432T>G (p.Ala144=)
c.372T>G (p.Ala124=)
c.1056T>G (p.Ala352=)
c.1026T>G (p.Ala342=)
c.900T>G (p.Ala300=)
c.*358T>G (n.*358T>G)
16g.27362676C>ACA395298514IL4Rc.1324C>A (p.His442Asn)
c.1279C>A (p.His427Asn)
c.230-1427C>A (n.230-1427C>A)
c.*1367C>A (n.*1367C>A)
c.844C>A (p.His282Asn)
c.433C>A (p.His145Asn)
c.373C>A (p.His125Asn)
c.1057C>A (p.His353Asn)
c.1027C>A (p.His343Asn)
c.901C>A (p.His301Asn)
c.*359C>A (n.*359C>A)
16g.27362676C=CA2215169620IL4Rc.1324C= (p.His442=)
c.1279C= (p.His427=)
c.230-1427C= (n.230-1427C=)
c.*1367C= (n.*1367C=)
c.844C= (p.His282=)
c.433C= (p.His145=)
c.373C= (p.His125=)
c.1057C= (p.His353=)
c.1027C= (p.His343=)
c.901C= (p.His301=)
c.*359C= (n.*359C=)
16g.27362676C>GCA395298517IL4Rc.1324C>G (p.His442Asp)
c.1279C>G (p.His427Asp)
c.230-1427C>G (n.230-1427C>G)
c.*1367C>G (n.*1367C>G)
c.844C>G (p.His282Asp)
c.433C>G (p.His145Asp)
c.373C>G (p.His125Asp)
c.1057C>G (p.His353Asp)
c.1027C>G (p.His343Asp)
c.901C>G (p.His301Asp)
c.*359C>G (n.*359C>G)
16g.27362676C>TCA395298518IL4Rc.1324C>T (p.His442Tyr)
c.1279C>T (p.His427Tyr)
c.230-1427C>T (n.230-1427C>T)
c.*1367C>T (n.*1367C>T)
c.844C>T (p.His282Tyr)
c.433C>T (p.His145Tyr)
c.373C>T (p.His125Tyr)
c.1057C>T (p.His353Tyr)
c.1027C>T (p.His343Tyr)
c.901C>T (p.His301Tyr)
c.*359C>T (n.*359C>T)
dbSNP gnomAD v4
16g.27362677A>CCA395298523IL4Rc.1325A>C (p.His442Pro)
c.1280A>C (p.His427Pro)
c.230-1426A>C (n.230-1426A>C)
c.*1368A>C (n.*1368A>C)
c.845A>C (p.His282Pro)
c.434A>C (p.His145Pro)
c.374A>C (p.His125Pro)
c.1058A>C (p.His353Pro)
c.1028A>C (p.His343Pro)
c.902A>C (p.His301Pro)
c.*360A>C (n.*360A>C)
16g.27362677A>GCA395298522IL4Rc.1325A>G (p.His442Arg)
c.1280A>G (p.His427Arg)
c.230-1426A>G (n.230-1426A>G)
c.*1368A>G (n.*1368A>G)
c.845A>G (p.His282Arg)
c.434A>G (p.His145Arg)
c.374A>G (p.His125Arg)
c.1058A>G (p.His353Arg)
c.1028A>G (p.His343Arg)
c.902A>G (p.His301Arg)
c.*360A>G (n.*360A>G)
16g.27362677A>TCA395298521IL4Rc.1325A>T (p.His442Leu)
c.1280A>T (p.His427Leu)
c.230-1426A>T (n.230-1426A>T)
c.*1368A>T (n.*1368A>T)
c.845A>T (p.His282Leu)
c.434A>T (p.His145Leu)
c.374A>T (p.His125Leu)
c.1058A>T (p.His353Leu)
c.1028A>T (p.His343Leu)
c.902A>T (p.His301Leu)
c.*360A>T (n.*360A>T)
16g.27362678C>ACA395298526IL4Rc.1326C>A (p.His442Gln)
c.1281C>A (p.His427Gln)
c.230-1425C>A (n.230-1425C>A)
c.*1369C>A (n.*1369C>A)
c.846C>A (p.His282Gln)
c.435C>A (p.His145Gln)
c.375C>A (p.His125Gln)
c.1059C>A (p.His353Gln)
c.1029C>A (p.His343Gln)
c.903C>A (p.His301Gln)
c.*361C>A (n.*361C>A)
16g.27362678C>GCA395298528IL4Rc.1326C>G (p.His442Gln)
c.1281C>G (p.His427Gln)
c.230-1425C>G (n.230-1425C>G)
c.*1369C>G (n.*1369C>G)
c.846C>G (p.His282Gln)
c.435C>G (p.His145Gln)
c.375C>G (p.His125Gln)
c.1059C>G (p.His353Gln)
c.1029C>G (p.His343Gln)
c.903C>G (p.His301Gln)
c.*361C>G (n.*361C>G)
16g.27362678C>TCA494470543IL4Rc.1326C>T (p.His442=)
c.1281C>T (p.His427=)
c.230-1425C>T (n.230-1425C>T)
c.*1369C>T (n.*1369C>T)
c.846C>T (p.His282=)
c.435C>T (p.His145=)
c.375C>T (p.His125=)
c.1059C>T (p.His353=)
c.1029C>T (p.His343=)
c.903C>T (p.His301=)
c.*361C>T (n.*361C>T)
16g.27362679A=CA2215169623IL4Rc.1327A= (p.Met443=)
c.1282A= (p.Met428=)
c.230-1424A= (n.230-1424A=)
c.*1370A= (n.*1370A=)
c.847A= (p.Met283=)
c.436A= (p.Met146=)
c.376A= (p.Met126=)
c.1060A= (p.Met354=)
c.1030A= (p.Met344=)
c.904A= (p.Met302=)
c.*362A= (n.*362A=)
16g.27362679A>CCA395298530IL4Rc.1327A>C (p.Met443Leu)
c.1282A>C (p.Met428Leu)
c.230-1424A>C (n.230-1424A>C)
c.*1370A>C (n.*1370A>C)
c.847A>C (p.Met283Leu)
c.436A>C (p.Met146Leu)
c.376A>C (p.Met126Leu)
c.1060A>C (p.Met354Leu)
c.1030A>C (p.Met344Leu)
c.904A>C (p.Met302Leu)
c.*362A>C (n.*362A>C)
16g.27362679A>GCA7974540IL4Rc.1327A>G (p.Met443Val)
c.1282A>G (p.Met428Val)
c.230-1424A>G (n.230-1424A>G)
c.*1370A>G (n.*1370A>G)
c.847A>G (p.Met283Val)
c.436A>G (p.Met146Val)
c.376A>G (p.Met126Val)
c.1060A>G (p.Met354Val)
c.1030A>G (p.Met344Val)
c.904A>G (p.Met302Val)
c.*362A>G (n.*362A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362679A>TCA395298533IL4Rc.1327A>T (p.Met443Leu)
c.1282A>T (p.Met428Leu)
c.230-1424A>T (n.230-1424A>T)
c.*1370A>T (n.*1370A>T)
c.847A>T (p.Met283Leu)
c.436A>T (p.Met146Leu)
c.376A>T (p.Met126Leu)
c.1060A>T (p.Met354Leu)
c.1030A>T (p.Met344Leu)
c.904A>T (p.Met302Leu)
c.*362A>T (n.*362A>T)
16g.27362680T>ACA395298536IL4Rc.1328T>A (p.Met443Lys)
c.1283T>A (p.Met428Lys)
c.230-1423T>A (n.230-1423T>A)
c.*1371T>A (n.*1371T>A)
c.848T>A (p.Met283Lys)
c.437T>A (p.Met146Lys)
c.377T>A (p.Met126Lys)
c.1061T>A (p.Met354Lys)
c.1031T>A (p.Met344Lys)
c.905T>A (p.Met302Lys)
c.*363T>A (n.*363T>A)
16g.27362680T>CCA395298539IL4Rc.1328T>C (p.Met443Thr)
c.1283T>C (p.Met428Thr)
c.230-1423T>C (n.230-1423T>C)
c.*1371T>C (n.*1371T>C)
c.848T>C (p.Met283Thr)
c.437T>C (p.Met146Thr)
c.377T>C (p.Met126Thr)
c.1061T>C (p.Met354Thr)
c.1031T>C (p.Met344Thr)
c.905T>C (p.Met302Thr)
c.*363T>C (n.*363T>C)
16g.27362680T>GCA395298541IL4Rc.1328T>G (p.Met443Arg)
c.1283T>G (p.Met428Arg)
c.230-1423T>G (n.230-1423T>G)
c.*1371T>G (n.*1371T>G)
c.848T>G (p.Met283Arg)
c.437T>G (p.Met146Arg)
c.377T>G (p.Met126Arg)
c.1061T>G (p.Met354Arg)
c.1031T>G (p.Met344Arg)
c.905T>G (p.Met302Arg)
c.*363T>G (n.*363T>G)
16g.27362681G>ACA395298544IL4Rc.1329G>A (p.Met443Ile)
c.1284G>A (p.Met428Ile)
c.230-1422G>A (n.230-1422G>A)
c.*1372G>A (n.*1372G>A)
c.849G>A (p.Met283Ile)
c.438G>A (p.Met146Ile)
c.378G>A (p.Met126Ile)
c.1062G>A (p.Met354Ile)
c.1032G>A (p.Met344Ile)
c.906G>A (p.Met302Ile)
c.*364G>A (n.*364G>A)
16g.27362681G>CCA395298547IL4Rc.1329G>C (p.Met443Ile)
c.1284G>C (p.Met428Ile)
c.230-1422G>C (n.230-1422G>C)
c.*1372G>C (n.*1372G>C)
c.849G>C (p.Met283Ile)
c.438G>C (p.Met146Ile)
c.378G>C (p.Met126Ile)
c.1062G>C (p.Met354Ile)
c.1032G>C (p.Met344Ile)
c.906G>C (p.Met302Ile)
c.*364G>C (n.*364G>C)
16g.27362681G=CA2215169624IL4Rc.1329G= (p.Met443=)
c.1284G= (p.Met428=)
c.230-1422G= (n.230-1422G=)
c.*1372G= (n.*1372G=)
c.849G= (p.Met283=)
c.438G= (p.Met146=)
c.378G= (p.Met126=)
c.1062G= (p.Met354=)
c.1032G= (p.Met344=)
c.906G= (p.Met302=)
c.*364G= (n.*364G=)
16g.27362681G>TCA395298549IL4Rc.1329G>T (p.Met443Ile)
c.1284G>T (p.Met428Ile)
c.230-1422G>T (n.230-1422G>T)
c.*1372G>T (n.*1372G>T)
c.849G>T (p.Met283Ile)
c.438G>T (p.Met146Ile)
c.378G>T (p.Met126Ile)
c.1062G>T (p.Met354Ile)
c.1032G>T (p.Met344Ile)
c.906G>T (p.Met302Ile)
c.*364G>T (n.*364G>T)
dbSNP
16g.27362682C>ACA395298557IL4Rc.1330C>A (p.Pro444Thr)
c.1285C>A (p.Pro429Thr)
c.230-1421C>A (n.230-1421C>A)
c.*1373C>A (n.*1373C>A)
c.850C>A (p.Pro284Thr)
c.439C>A (p.Pro147Thr)
c.379C>A (p.Pro127Thr)
c.1063C>A (p.Pro355Thr)
c.1033C>A (p.Pro345Thr)
c.907C>A (p.Pro303Thr)
c.*365C>A (n.*365C>A)
16g.27362682C=CA2215169625IL4Rc.1330C= (p.Pro444=)
c.1285C= (p.Pro429=)
c.230-1421C= (n.230-1421C=)
c.*1373C= (n.*1373C=)
c.850C= (p.Pro284=)
c.439C= (p.Pro147=)
c.379C= (p.Pro127=)
c.1063C= (p.Pro355=)
c.1033C= (p.Pro345=)
c.907C= (p.Pro303=)
c.*365C= (n.*365C=)
16g.27362682C>GCA395298555IL4Rc.1330C>G (p.Pro444Ala)
c.1285C>G (p.Pro429Ala)
c.230-1421C>G (n.230-1421C>G)
c.*1373C>G (n.*1373C>G)
c.850C>G (p.Pro284Ala)
c.439C>G (p.Pro147Ala)
c.379C>G (p.Pro127Ala)
c.1063C>G (p.Pro355Ala)
c.1033C>G (p.Pro345Ala)
c.907C>G (p.Pro303Ala)
c.*365C>G (n.*365C>G)
16g.27362682C>TCA7974541IL4Rc.1330C>T (p.Pro444Ser)
c.1285C>T (p.Pro429Ser)
c.230-1421C>T (n.230-1421C>T)
c.*1373C>T (n.*1373C>T)
c.850C>T (p.Pro284Ser)
c.439C>T (p.Pro147Ser)
c.379C>T (p.Pro127Ser)
c.1063C>T (p.Pro355Ser)
c.1033C>T (p.Pro345Ser)
c.907C>T (p.Pro303Ser)
c.*365C>T (n.*365C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362683C>ACA395298560IL4Rc.1331C>A (p.Pro444His)
c.1286C>A (p.Pro429His)
c.230-1420C>A (n.230-1420C>A)
c.*1374C>A (n.*1374C>A)
c.851C>A (p.Pro284His)
c.440C>A (p.Pro147His)
c.380C>A (p.Pro127His)
c.1064C>A (p.Pro355His)
c.1034C>A (p.Pro345His)
c.908C>A (p.Pro303His)
c.*366C>A (n.*366C>A)
16g.27362683C>GCA395298563IL4Rc.1331C>G (p.Pro444Arg)
c.1286C>G (p.Pro429Arg)
c.230-1420C>G (n.230-1420C>G)
c.*1374C>G (n.*1374C>G)
c.851C>G (p.Pro284Arg)
c.440C>G (p.Pro147Arg)
c.380C>G (p.Pro127Arg)
c.1064C>G (p.Pro355Arg)
c.1034C>G (p.Pro345Arg)
c.908C>G (p.Pro303Arg)
c.*366C>G (n.*366C>G)
16g.27362683C>TCA395298566IL4Rc.1331C>T (p.Pro444Leu)
c.1286C>T (p.Pro429Leu)
c.230-1420C>T (n.230-1420C>T)
c.*1374C>T (n.*1374C>T)
c.851C>T (p.Pro284Leu)
c.440C>T (p.Pro147Leu)
c.380C>T (p.Pro127Leu)
c.1064C>T (p.Pro355Leu)
c.1034C>T (p.Pro345Leu)
c.908C>T (p.Pro303Leu)
c.*366C>T (n.*366C>T)
gnomAD v4
16g.27362684C>ACA494470545IL4Rc.1332C>A (p.Pro444=)
c.1287C>A (p.Pro429=)
c.230-1419C>A (n.230-1419C>A)
c.*1375C>A (n.*1375C>A)
c.852C>A (p.Pro284=)
c.441C>A (p.Pro147=)
c.381C>A (p.Pro127=)
c.1065C>A (p.Pro355=)
c.1035C>A (p.Pro345=)
c.909C>A (p.Pro303=)
c.*367C>A (n.*367C>A)
16g.27362684C=CA2215169626IL4Rc.1332C= (p.Pro444=)
c.1287C= (p.Pro429=)
c.230-1419C= (n.230-1419C=)
c.*1375C= (n.*1375C=)
c.852C= (p.Pro284=)
c.441C= (p.Pro147=)
c.381C= (p.Pro127=)
c.1065C= (p.Pro355=)
c.1035C= (p.Pro345=)
c.909C= (p.Pro303=)
c.*367C= (n.*367C=)
16g.27362684C>GCA494470544IL4Rc.1332C>G (p.Pro444=)
c.1287C>G (p.Pro429=)
c.230-1419C>G (n.230-1419C>G)
c.*1375C>G (n.*1375C>G)
c.852C>G (p.Pro284=)
c.441C>G (p.Pro147=)
c.381C>G (p.Pro127=)
c.1065C>G (p.Pro355=)
c.1035C>G (p.Pro345=)
c.909C>G (p.Pro303=)
c.*367C>G (n.*367C>G)
16g.27362684C>TCA7974542IL4Rc.1332C>T (p.Pro444=)
c.1287C>T (p.Pro429=)
c.230-1419C>T (n.230-1419C>T)
c.*1375C>T (n.*1375C>T)
c.852C>T (p.Pro284=)
c.441C>T (p.Pro147=)
c.381C>T (p.Pro127=)
c.1065C>T (p.Pro355=)
c.1035C>T (p.Pro345=)
c.909C>T (p.Pro303=)
c.*367C>T (n.*367C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362685T>ACA395298571IL4Rc.1333T>A (p.Trp445Arg)
c.1288T>A (p.Trp430Arg)
c.230-1418T>A (n.230-1418T>A)
c.*1376T>A (n.*1376T>A)
c.853T>A (p.Trp285Arg)
c.442T>A (p.Trp148Arg)
c.382T>A (p.Trp128Arg)
c.1066T>A (p.Trp356Arg)
c.1036T>A (p.Trp346Arg)
c.910T>A (p.Trp304Arg)
c.*368T>A (n.*368T>A)
16g.27362685T>CCA395298573IL4Rc.1333T>C (p.Trp445Arg)
c.1288T>C (p.Trp430Arg)
c.230-1418T>C (n.230-1418T>C)
c.*1376T>C (n.*1376T>C)
c.853T>C (p.Trp285Arg)
c.442T>C (p.Trp148Arg)
c.382T>C (p.Trp128Arg)
c.1066T>C (p.Trp356Arg)
c.1036T>C (p.Trp346Arg)
c.910T>C (p.Trp304Arg)
c.*368T>C (n.*368T>C)
16g.27362685T>GCA395298575IL4Rc.1333T>G (p.Trp445Gly)
c.1288T>G (p.Trp430Gly)
c.230-1418T>G (n.230-1418T>G)
c.*1376T>G (n.*1376T>G)
c.853T>G (p.Trp285Gly)
c.442T>G (p.Trp148Gly)
c.382T>G (p.Trp128Gly)
c.1066T>G (p.Trp356Gly)
c.1036T>G (p.Trp346Gly)
c.910T>G (p.Trp304Gly)
c.*368T>G (n.*368T>G)
16g.27362686G>ACA395298579IL4Rc.1334G>A (p.Trp445Ter)
c.1289G>A (p.Trp430Ter)
c.230-1417G>A (n.230-1417G>A)
c.*1377G>A (n.*1377G>A)
c.854G>A (p.Trp285Ter)
c.443G>A (p.Trp148Ter)
c.383G>A (p.Trp128Ter)
c.1067G>A (p.Trp356Ter)
c.1037G>A (p.Trp346Ter)
c.911G>A (p.Trp304Ter)
c.*369G>A (n.*369G>A)
16g.27362686G>CCA395298581IL4Rc.1334G>C (p.Trp445Ser)
c.1289G>C (p.Trp430Ser)
c.230-1417G>C (n.230-1417G>C)
c.*1377G>C (n.*1377G>C)
c.854G>C (p.Trp285Ser)
c.443G>C (p.Trp148Ser)
c.383G>C (p.Trp128Ser)
c.1067G>C (p.Trp356Ser)
c.1037G>C (p.Trp346Ser)
c.911G>C (p.Trp304Ser)
c.*369G>C (n.*369G>C)
16g.27362686G>TCA395298583IL4Rc.1334G>T (p.Trp445Leu)
c.1289G>T (p.Trp430Leu)
c.230-1417G>T (n.230-1417G>T)
c.*1377G>T (n.*1377G>T)
c.854G>T (p.Trp285Leu)
c.443G>T (p.Trp148Leu)
c.383G>T (p.Trp128Leu)
c.1067G>T (p.Trp356Leu)
c.1037G>T (p.Trp346Leu)
c.911G>T (p.Trp304Leu)
c.*369G>T (n.*369G>T)
16g.27362687G>ACA395298587IL4Rc.1335G>A (p.Trp445Ter)
c.1290G>A (p.Trp430Ter)
c.230-1416G>A (n.230-1416G>A)
c.*1378G>A (n.*1378G>A)
c.855G>A (p.Trp285Ter)
c.444G>A (p.Trp148Ter)
c.384G>A (p.Trp128Ter)
c.1068G>A (p.Trp356Ter)
c.1038G>A (p.Trp346Ter)
c.912G>A (p.Trp304Ter)
c.*370G>A (n.*370G>A)
16g.27362687G>CCA395298589IL4Rc.1335G>C (p.Trp445Cys)
c.1290G>C (p.Trp430Cys)
c.230-1416G>C (n.230-1416G>C)
c.*1378G>C (n.*1378G>C)
c.855G>C (p.Trp285Cys)
c.444G>C (p.Trp148Cys)
c.384G>C (p.Trp128Cys)
c.1068G>C (p.Trp356Cys)
c.1038G>C (p.Trp346Cys)
c.912G>C (p.Trp304Cys)
c.*370G>C (n.*370G>C)
16g.27362687G>TCA395298591IL4Rc.1335G>T (p.Trp445Cys)
c.1290G>T (p.Trp430Cys)
c.230-1416G>T (n.230-1416G>T)
c.*1378G>T (n.*1378G>T)
c.855G>T (p.Trp285Cys)
c.444G>T (p.Trp148Cys)
c.384G>T (p.Trp128Cys)
c.1068G>T (p.Trp356Cys)
c.1038G>T (p.Trp346Cys)
c.912G>T (p.Trp304Cys)
c.*370G>T (n.*370G>T)
16g.27362688G>ACA395298596IL4Rc.1336G>A (p.Asp446Asn)
c.1291G>A (p.Asp431Asn)
c.230-1415G>A (n.230-1415G>A)
c.*1379G>A (n.*1379G>A)
c.856G>A (p.Asp286Asn)
c.445G>A (p.Asp149Asn)
c.385G>A (p.Asp129Asn)
c.1069G>A (p.Asp357Asn)
c.1039G>A (p.Asp347Asn)
c.913G>A (p.Asp305Asn)
c.*371G>A (n.*371G>A)
gnomAD v4
16g.27362688G>CCA395298599IL4Rc.1336G>C (p.Asp446His)
c.1291G>C (p.Asp431His)
c.230-1415G>C (n.230-1415G>C)
c.*1379G>C (n.*1379G>C)
c.856G>C (p.Asp286His)
c.445G>C (p.Asp149His)
c.385G>C (p.Asp129His)
c.1069G>C (p.Asp357His)
c.1039G>C (p.Asp347His)
c.913G>C (p.Asp305His)
c.*371G>C (n.*371G>C)
16g.27362688G>TCA395298594IL4Rc.1336G>T (p.Asp446Tyr)
c.1291G>T (p.Asp431Tyr)
c.230-1415G>T (n.230-1415G>T)
c.*1379G>T (n.*1379G>T)
c.856G>T (p.Asp286Tyr)
c.445G>T (p.Asp149Tyr)
c.385G>T (p.Asp129Tyr)
c.1069G>T (p.Asp357Tyr)
c.1039G>T (p.Asp347Tyr)
c.913G>T (p.Asp305Tyr)
c.*371G>T (n.*371G>T)
16g.27362689A>CCA395298602IL4Rc.1337A>C (p.Asp446Ala)
c.1292A>C (p.Asp431Ala)
c.230-1414A>C (n.230-1414A>C)
c.*1380A>C (n.*1380A>C)
c.857A>C (p.Asp286Ala)
c.446A>C (p.Asp149Ala)
c.386A>C (p.Asp129Ala)
c.1070A>C (p.Asp357Ala)
c.1040A>C (p.Asp347Ala)
c.914A>C (p.Asp305Ala)
c.*372A>C (n.*372A>C)
16g.27362689A>GCA395298604IL4Rc.1337A>G (p.Asp446Gly)
c.1292A>G (p.Asp431Gly)
c.230-1414A>G (n.230-1414A>G)
c.*1380A>G (n.*1380A>G)
c.857A>G (p.Asp286Gly)
c.446A>G (p.Asp149Gly)
c.386A>G (p.Asp129Gly)
c.1070A>G (p.Asp357Gly)
c.1040A>G (p.Asp347Gly)
c.914A>G (p.Asp305Gly)
c.*372A>G (n.*372A>G)
16g.27362689A>TCA395298607IL4Rc.1337A>T (p.Asp446Val)
c.1292A>T (p.Asp431Val)
c.230-1414A>T (n.230-1414A>T)
c.*1380A>T (n.*1380A>T)
c.857A>T (p.Asp286Val)
c.446A>T (p.Asp149Val)
c.386A>T (p.Asp129Val)
c.1070A>T (p.Asp357Val)
c.1040A>T (p.Asp347Val)
c.914A>T (p.Asp305Val)
c.*372A>T (n.*372A>T)
16g.27362690T>ACA395298610IL4Rc.1338T>A (p.Asp446Glu)
c.1293T>A (p.Asp431Glu)
c.230-1413T>A (n.230-1413T>A)
c.*1381T>A (n.*1381T>A)
c.858T>A (p.Asp286Glu)
c.447T>A (p.Asp149Glu)
c.387T>A (p.Asp129Glu)
c.1071T>A (p.Asp357Glu)
c.1041T>A (p.Asp347Glu)
c.915T>A (p.Asp305Glu)
c.*373T>A (n.*373T>A)
16g.27362690T>CCA494470546IL4Rc.1338T>C (p.Asp446=)
c.1293T>C (p.Asp431=)
c.230-1413T>C (n.230-1413T>C)
c.*1381T>C (n.*1381T>C)
c.858T>C (p.Asp286=)
c.447T>C (p.Asp149=)
c.387T>C (p.Asp129=)
c.1071T>C (p.Asp357=)
c.1041T>C (p.Asp347=)
c.915T>C (p.Asp305=)
c.*373T>C (n.*373T>C)
16g.27362690T>GCA395298612IL4Rc.1338T>G (p.Asp446Glu)
c.1293T>G (p.Asp431Glu)
c.230-1413T>G (n.230-1413T>G)
c.*1381T>G (n.*1381T>G)
c.858T>G (p.Asp286Glu)
c.447T>G (p.Asp149Glu)
c.387T>G (p.Asp129Glu)
c.1071T>G (p.Asp357Glu)
c.1041T>G (p.Asp347Glu)
c.915T>G (p.Asp305Glu)
c.*373T>G (n.*373T>G)
gnomAD v4
16g.27362691G>ACA395298616IL4Rc.1339G>A (p.Glu447Lys)
c.1294G>A (p.Glu432Lys)
c.230-1412G>A (n.230-1412G>A)
c.*1382G>A (n.*1382G>A)
c.859G>A (p.Glu287Lys)
c.448G>A (p.Glu150Lys)
c.388G>A (p.Glu130Lys)
c.1072G>A (p.Glu358Lys)
c.1042G>A (p.Glu348Lys)
c.916G>A (p.Glu306Lys)
c.*374G>A (n.*374G>A)
16g.27362691G>CCA395298617IL4Rc.1339G>C (p.Glu447Gln)
c.1294G>C (p.Glu432Gln)
c.230-1412G>C (n.230-1412G>C)
c.*1382G>C (n.*1382G>C)
c.859G>C (p.Glu287Gln)
c.448G>C (p.Glu150Gln)
c.388G>C (p.Glu130Gln)
c.1072G>C (p.Glu358Gln)
c.1042G>C (p.Glu348Gln)
c.916G>C (p.Glu306Gln)
c.*374G>C (n.*374G>C)
16g.27362691G>TCA395298620IL4Rc.1339G>T (p.Glu447Ter)
c.1294G>T (p.Glu432Ter)
c.230-1412G>T (n.230-1412G>T)
c.*1382G>T (n.*1382G>T)
c.859G>T (p.Glu287Ter)
c.448G>T (p.Glu150Ter)
c.388G>T (p.Glu130Ter)
c.1072G>T (p.Glu358Ter)
c.1042G>T (p.Glu348Ter)
c.916G>T (p.Glu306Ter)
c.*374G>T (n.*374G>T)
16g.27362692A>CCA395298623IL4Rc.1340A>C (p.Glu447Ala)
c.1295A>C (p.Glu432Ala)
c.230-1411A>C (n.230-1411A>C)
c.*1383A>C (n.*1383A>C)
c.860A>C (p.Glu287Ala)
c.449A>C (p.Glu150Ala)
c.389A>C (p.Glu130Ala)
c.1073A>C (p.Glu358Ala)
c.1043A>C (p.Glu348Ala)
c.917A>C (p.Glu306Ala)
c.*375A>C (n.*375A>C)
16g.27362692A>GCA395298626IL4Rc.1340A>G (p.Glu447Gly)
c.1295A>G (p.Glu432Gly)
c.230-1411A>G (n.230-1411A>G)
c.*1383A>G (n.*1383A>G)
c.860A>G (p.Glu287Gly)
c.449A>G (p.Glu150Gly)
c.389A>G (p.Glu130Gly)
c.1073A>G (p.Glu358Gly)
c.1043A>G (p.Glu348Gly)
c.917A>G (p.Glu306Gly)
c.*375A>G (n.*375A>G)
16g.27362692A>TCA395298628IL4Rc.1340A>T (p.Glu447Val)
c.1295A>T (p.Glu432Val)
c.230-1411A>T (n.230-1411A>T)
c.*1383A>T (n.*1383A>T)
c.860A>T (p.Glu287Val)
c.449A>T (p.Glu150Val)
c.389A>T (p.Glu130Val)
c.1073A>T (p.Glu358Val)
c.1043A>T (p.Glu348Val)
c.917A>T (p.Glu306Val)
c.*375A>T (n.*375A>T)
16g.27362693G>ACA279686685IL4Rc.1341G>A (p.Glu447=)
c.1296G>A (p.Glu432=)
c.230-1410G>A (n.230-1410G>A)
c.*1384G>A (n.*1384G>A)
c.861G>A (p.Glu287=)
c.450G>A (p.Glu150=)
c.390G>A (p.Glu130=)
c.1074G>A (p.Glu358=)
c.1044G>A (p.Glu348=)
c.918G>A (p.Glu306=)
c.*376G>A (n.*376G>A)
dbSNP gnomAD v3 gnomAD v4
16g.27362693G>CCA395298630IL4Rc.1341G>C (p.Glu447Asp)
c.1296G>C (p.Glu432Asp)
c.230-1410G>C (n.230-1410G>C)
c.*1384G>C (n.*1384G>C)
c.861G>C (p.Glu287Asp)
c.450G>C (p.Glu150Asp)
c.390G>C (p.Glu130Asp)
c.1074G>C (p.Glu358Asp)
c.1044G>C (p.Glu348Asp)
c.918G>C (p.Glu306Asp)
c.*376G>C (n.*376G>C)
16g.27362693G=CA2215169627IL4Rc.1341G= (p.Glu447=)
c.1296G= (p.Glu432=)
c.230-1410G= (n.230-1410G=)
c.*1384G= (n.*1384G=)
c.861G= (p.Glu287=)
c.450G= (p.Glu150=)
c.390G= (p.Glu130=)
c.1074G= (p.Glu358=)
c.1044G= (p.Glu348=)
c.918G= (p.Glu306=)
c.*376G= (n.*376G=)
16g.27362693G>TCA395298633IL4Rc.1341G>T (p.Glu447Asp)
c.1296G>T (p.Glu432Asp)
c.230-1410G>T (n.230-1410G>T)
c.*1384G>T (n.*1384G>T)
c.861G>T (p.Glu287Asp)
c.450G>T (p.Glu150Asp)
c.390G>T (p.Glu130Asp)
c.1074G>T (p.Glu358Asp)
c.1044G>T (p.Glu348Asp)
c.918G>T (p.Glu306Asp)
c.*376G>T (n.*376G>T)
16g.27362694T>ACA279686694IL4Rc.1342T>A (p.Phe448Ile)
c.1297T>A (p.Phe433Ile)
c.230-1409T>A (n.230-1409T>A)
c.*1385T>A (n.*1385T>A)
c.862T>A (p.Phe288Ile)
c.451T>A (p.Phe151Ile)
c.391T>A (p.Phe131Ile)
c.1075T>A (p.Phe359Ile)
c.1045T>A (p.Phe349Ile)
c.919T>A (p.Phe307Ile)
c.*377T>A (n.*377T>A)
dbSNP gnomAD v2
16g.27362694T>CCA395298637IL4Rc.1342T>C (p.Phe448Leu)
c.1297T>C (p.Phe433Leu)
c.230-1409T>C (n.230-1409T>C)
c.*1385T>C (n.*1385T>C)
c.862T>C (p.Phe288Leu)
c.451T>C (p.Phe151Leu)
c.391T>C (p.Phe131Leu)
c.1075T>C (p.Phe359Leu)
c.1045T>C (p.Phe349Leu)
c.919T>C (p.Phe307Leu)
c.*377T>C (n.*377T>C)
16g.27362694T>GCA395298635IL4Rc.1342T>G (p.Phe448Val)
c.1297T>G (p.Phe433Val)
c.230-1409T>G (n.230-1409T>G)
c.*1385T>G (n.*1385T>G)
c.862T>G (p.Phe288Val)
c.451T>G (p.Phe151Val)
c.391T>G (p.Phe131Val)
c.1075T>G (p.Phe359Val)
c.1045T>G (p.Phe349Val)
c.919T>G (p.Phe307Val)
c.*377T>G (n.*377T>G)
16g.27362694T=CA2215169628IL4Rc.1342T= (p.Phe448=)
c.1297T= (p.Phe433=)
c.230-1409T= (n.230-1409T=)
c.*1385T= (n.*1385T=)
c.862T= (p.Phe288=)
c.451T= (p.Phe151=)
c.391T= (p.Phe131=)
c.1075T= (p.Phe359=)
c.1045T= (p.Phe349=)
c.919T= (p.Phe307=)
c.*377T= (n.*377T=)
16g.27362695T>ACA395298640IL4Rc.1343T>A (p.Phe448Tyr)
c.1298T>A (p.Phe433Tyr)
c.230-1408T>A (n.230-1408T>A)
c.*1386T>A (n.*1386T>A)
c.863T>A (p.Phe288Tyr)
c.452T>A (p.Phe151Tyr)
c.392T>A (p.Phe131Tyr)
c.1076T>A (p.Phe359Tyr)
c.1046T>A (p.Phe349Tyr)
c.920T>A (p.Phe307Tyr)
c.*378T>A (n.*378T>A)
16g.27362695T>CCA7974543IL4Rc.1343T>C (p.Phe448Ser)
c.1298T>C (p.Phe433Ser)
c.230-1408T>C (n.230-1408T>C)
c.*1386T>C (n.*1386T>C)
c.863T>C (p.Phe288Ser)
c.452T>C (p.Phe151Ser)
c.392T>C (p.Phe131Ser)
c.1076T>C (p.Phe359Ser)
c.1046T>C (p.Phe349Ser)
c.920T>C (p.Phe307Ser)
c.*378T>C (n.*378T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362695T>GCA395298644IL4Rc.1343T>G (p.Phe448Cys)
c.1298T>G (p.Phe433Cys)
c.230-1408T>G (n.230-1408T>G)
c.*1386T>G (n.*1386T>G)
c.863T>G (p.Phe288Cys)
c.452T>G (p.Phe151Cys)
c.392T>G (p.Phe131Cys)
c.1076T>G (p.Phe359Cys)
c.1046T>G (p.Phe349Cys)
c.920T>G (p.Phe307Cys)
c.*378T>G (n.*378T>G)
16g.27362695T=CA2215169632IL4Rc.1343T= (p.Phe448=)
c.1298T= (p.Phe433=)
c.230-1408T= (n.230-1408T=)
c.*1386T= (n.*1386T=)
c.863T= (p.Phe288=)
c.452T= (p.Phe151=)
c.392T= (p.Phe131=)
c.1076T= (p.Phe359=)
c.1046T= (p.Phe349=)
c.920T= (p.Phe307=)
c.*378T= (n.*378T=)
16g.27362696C>ACA395298647IL4Rc.1344C>A (p.Phe448Leu)
c.1299C>A (p.Phe433Leu)
c.230-1407C>A (n.230-1407C>A)
c.*1387C>A (n.*1387C>A)
c.864C>A (p.Phe288Leu)
c.453C>A (p.Phe151Leu)
c.393C>A (p.Phe131Leu)
c.1077C>A (p.Phe359Leu)
c.1047C>A (p.Phe349Leu)
c.921C>A (p.Phe307Leu)
c.*379C>A (n.*379C>A)
16g.27362696C>GCA395298649IL4Rc.1344C>G (p.Phe448Leu)
c.1299C>G (p.Phe433Leu)
c.230-1407C>G (n.230-1407C>G)
c.*1387C>G (n.*1387C>G)
c.864C>G (p.Phe288Leu)
c.453C>G (p.Phe151Leu)
c.393C>G (p.Phe131Leu)
c.1077C>G (p.Phe359Leu)
c.1047C>G (p.Phe349Leu)
c.921C>G (p.Phe307Leu)
c.*379C>G (n.*379C>G)
16g.27362696C>TCA494470547IL4Rc.1344C>T (p.Phe448=)
c.1299C>T (p.Phe433=)
c.230-1407C>T (n.230-1407C>T)
c.*1387C>T (n.*1387C>T)
c.864C>T (p.Phe288=)
c.453C>T (p.Phe151=)
c.393C>T (p.Phe131=)
c.1077C>T (p.Phe359=)
c.1047C>T (p.Phe349=)
c.921C>T (p.Phe307=)
c.*379C>T (n.*379C>T)
16g.27362697C>ACA395298653IL4Rc.1345C>A (p.Pro449Thr)
c.1300C>A (p.Pro434Thr)
c.230-1406C>A (n.230-1406C>A)
c.*1388C>A (n.*1388C>A)
c.865C>A (p.Pro289Thr)
c.454C>A (p.Pro152Thr)
c.394C>A (p.Pro132Thr)
c.1078C>A (p.Pro360Thr)
c.1048C>A (p.Pro350Thr)
c.922C>A (p.Pro308Thr)
c.*380C>A (n.*380C>A)
16g.27362697C>GCA395298654IL4Rc.1345C>G (p.Pro449Ala)
c.1300C>G (p.Pro434Ala)
c.230-1406C>G (n.230-1406C>G)
c.*1388C>G (n.*1388C>G)
c.865C>G (p.Pro289Ala)
c.454C>G (p.Pro152Ala)
c.394C>G (p.Pro132Ala)
c.1078C>G (p.Pro360Ala)
c.1048C>G (p.Pro350Ala)
c.922C>G (p.Pro308Ala)
c.*380C>G (n.*380C>G)
16g.27362697C>TCA395298657IL4Rc.1345C>T (p.Pro449Ser)
c.1300C>T (p.Pro434Ser)
c.230-1406C>T (n.230-1406C>T)
c.*1388C>T (n.*1388C>T)
c.865C>T (p.Pro289Ser)
c.454C>T (p.Pro152Ser)
c.394C>T (p.Pro132Ser)
c.1078C>T (p.Pro360Ser)
c.1048C>T (p.Pro350Ser)
c.922C>T (p.Pro308Ser)
c.*380C>T (n.*380C>T)
16g.27362698C>ACA395298661IL4Rc.1346C>A (p.Pro449Gln)
c.1301C>A (p.Pro434Gln)
c.230-1405C>A (n.230-1405C>A)
c.*1389C>A (n.*1389C>A)
c.866C>A (p.Pro289Gln)
c.455C>A (p.Pro152Gln)
c.395C>A (p.Pro132Gln)
c.1079C>A (p.Pro360Gln)
c.1049C>A (p.Pro350Gln)
c.923C>A (p.Pro308Gln)
c.*381C>A (n.*381C>A)
16g.27362698C=CA2215169638IL4Rc.1346C= (p.Pro449=)
c.1301C= (p.Pro434=)
c.230-1405C= (n.230-1405C=)
c.*1389C= (n.*1389C=)
c.866C= (p.Pro289=)
c.455C= (p.Pro152=)
c.395C= (p.Pro132=)
c.1079C= (p.Pro360=)
c.1049C= (p.Pro350=)
c.923C= (p.Pro308=)
c.*381C= (n.*381C=)
16g.27362698C>GCA7974544IL4Rc.1346C>G (p.Pro449Arg)
c.1301C>G (p.Pro434Arg)
c.230-1405C>G (n.230-1405C>G)
c.*1389C>G (n.*1389C>G)
c.866C>G (p.Pro289Arg)
c.455C>G (p.Pro152Arg)
c.395C>G (p.Pro132Arg)
c.1079C>G (p.Pro360Arg)
c.1049C>G (p.Pro350Arg)
c.923C>G (p.Pro308Arg)
c.*381C>G (n.*381C>G)
dbSNP ExAC
16g.27362698C>TCA395298665IL4Rc.1346C>T (p.Pro449Leu)
c.1301C>T (p.Pro434Leu)
c.230-1405C>T (n.230-1405C>T)
c.*1389C>T (n.*1389C>T)
c.866C>T (p.Pro289Leu)
c.455C>T (p.Pro152Leu)
c.395C>T (p.Pro132Leu)
c.1079C>T (p.Pro360Leu)
c.1049C>T (p.Pro350Leu)
c.923C>T (p.Pro308Leu)
c.*381C>T (n.*381C>T)
16g.27362699A=CA2215169643IL4Rc.1347A= (p.Pro449=)
c.1302A= (p.Pro434=)
c.230-1404A= (n.230-1404A=)
c.*1390A= (n.*1390A=)
c.867A= (p.Pro289=)
c.456A= (p.Pro152=)
c.396A= (p.Pro132=)
c.1080A= (p.Pro360=)
c.1050A= (p.Pro350=)
c.924A= (p.Pro308=)
c.*382A= (n.*382A=)
16g.27362699A>CCA494470550IL4Rc.1347A>C (p.Pro449=)
c.1302A>C (p.Pro434=)
c.230-1404A>C (n.230-1404A>C)
c.*1390A>C (n.*1390A>C)
c.867A>C (p.Pro289=)
c.456A>C (p.Pro152=)
c.396A>C (p.Pro132=)
c.1080A>C (p.Pro360=)
c.1050A>C (p.Pro350=)
c.924A>C (p.Pro308=)
c.*382A>C (n.*382A>C)
16g.27362699A>GCA494470549IL4Rc.1347A>G (p.Pro449=)
c.1302A>G (p.Pro434=)
c.230-1404A>G (n.230-1404A>G)
c.*1390A>G (n.*1390A>G)
c.867A>G (p.Pro289=)
c.456A>G (p.Pro152=)
c.396A>G (p.Pro132=)
c.1080A>G (p.Pro360=)
c.1050A>G (p.Pro350=)
c.924A>G (p.Pro308=)
c.*382A>G (n.*382A>G)
16g.27362699A>TCA494470548IL4Rc.1347A>T (p.Pro449=)
c.1302A>T (p.Pro434=)
c.230-1404A>T (n.230-1404A>T)
c.*1390A>T (n.*1390A>T)
c.867A>T (p.Pro289=)
c.456A>T (p.Pro152=)
c.396A>T (p.Pro132=)
c.1080A>T (p.Pro360=)
c.1050A>T (p.Pro350=)
c.924A>T (p.Pro308=)
c.*382A>T (n.*382A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362700A>CCA395298669IL4Rc.1348A>C (p.Ser450Arg)
c.1303A>C (p.Ser435Arg)
c.230-1403A>C (n.230-1403A>C)
c.*1391A>C (n.*1391A>C)
c.868A>C (p.Ser290Arg)
c.457A>C (p.Ser153Arg)
c.397A>C (p.Ser133Arg)
c.1081A>C (p.Ser361Arg)
c.1051A>C (p.Ser351Arg)
c.925A>C (p.Ser309Arg)
c.*383A>C (n.*383A>C)
16g.27362700A>GCA395298670IL4Rc.1348A>G (p.Ser450Gly)
c.1303A>G (p.Ser435Gly)
c.230-1403A>G (n.230-1403A>G)
c.*1391A>G (n.*1391A>G)
c.868A>G (p.Ser290Gly)
c.457A>G (p.Ser153Gly)
c.397A>G (p.Ser133Gly)
c.1081A>G (p.Ser361Gly)
c.1051A>G (p.Ser351Gly)
c.925A>G (p.Ser309Gly)
c.*383A>G (n.*383A>G)
16g.27362700A>TCA395298672IL4Rc.1348A>T (p.Ser450Cys)
c.1303A>T (p.Ser435Cys)
c.230-1403A>T (n.230-1403A>T)
c.*1391A>T (n.*1391A>T)
c.868A>T (p.Ser290Cys)
c.457A>T (p.Ser153Cys)
c.397A>T (p.Ser133Cys)
c.1081A>T (p.Ser361Cys)
c.1051A>T (p.Ser351Cys)
c.925A>T (p.Ser309Cys)
c.*383A>T (n.*383A>T)
16g.27362701G>ACA395298676IL4Rc.1349G>A (p.Ser450Asn)
c.1304G>A (p.Ser435Asn)
c.230-1402G>A (n.230-1402G>A)
c.*1392G>A (n.*1392G>A)
c.869G>A (p.Ser290Asn)
c.458G>A (p.Ser153Asn)
c.398G>A (p.Ser133Asn)
c.1082G>A (p.Ser361Asn)
c.1052G>A (p.Ser351Asn)
c.926G>A (p.Ser309Asn)
c.*384G>A (n.*384G>A)
16g.27362701G>CCA395298674IL4Rc.1349G>C (p.Ser450Thr)
c.1304G>C (p.Ser435Thr)
c.230-1402G>C (n.230-1402G>C)
c.*1392G>C (n.*1392G>C)
c.869G>C (p.Ser290Thr)
c.458G>C (p.Ser153Thr)
c.398G>C (p.Ser133Thr)
c.1082G>C (p.Ser361Thr)
c.1052G>C (p.Ser351Thr)
c.926G>C (p.Ser309Thr)
c.*384G>C (n.*384G>C)
dbSNP
16g.27362701G=CA2215169648IL4Rc.1349G= (p.Ser450=)
c.1304G= (p.Ser435=)
c.230-1402G= (n.230-1402G=)
c.*1392G= (n.*1392G=)
c.869G= (p.Ser290=)
c.458G= (p.Ser153=)
c.398G= (p.Ser133=)
c.1082G= (p.Ser361=)
c.1052G= (p.Ser351=)
c.926G= (p.Ser309=)
c.*384G= (n.*384G=)
16g.27362701G>TCA395298673IL4Rc.1349G>T (p.Ser450Ile)
c.1304G>T (p.Ser435Ile)
c.230-1402G>T (n.230-1402G>T)
c.*1392G>T (n.*1392G>T)
c.869G>T (p.Ser290Ile)
c.458G>T (p.Ser153Ile)
c.398G>T (p.Ser133Ile)
c.1082G>T (p.Ser361Ile)
c.1052G>T (p.Ser351Ile)
c.926G>T (p.Ser309Ile)
c.*384G>T (n.*384G>T)
16g.27362702T>ACA395298678IL4Rc.1350T>A (p.Ser450Arg)
c.1305T>A (p.Ser435Arg)
c.230-1401T>A (n.230-1401T>A)
c.*1393T>A (n.*1393T>A)
c.870T>A (p.Ser290Arg)
c.459T>A (p.Ser153Arg)
c.399T>A (p.Ser133Arg)
c.1083T>A (p.Ser361Arg)
c.1053T>A (p.Ser351Arg)
c.927T>A (p.Ser309Arg)
c.*385T>A (n.*385T>A)
16g.27362702T>CCA494470551IL4Rc.1350T>C (p.Ser450=)
c.1305T>C (p.Ser435=)
c.230-1401T>C (n.230-1401T>C)
c.*1393T>C (n.*1393T>C)
c.870T>C (p.Ser290=)
c.459T>C (p.Ser153=)
c.399T>C (p.Ser133=)
c.1083T>C (p.Ser361=)
c.1053T>C (p.Ser351=)
c.927T>C (p.Ser309=)
c.*385T>C (n.*385T>C)
dbSNP
16g.27362702T>GCA395298679IL4Rc.1350T>G (p.Ser450Arg)
c.1305T>G (p.Ser435Arg)
c.230-1401T>G (n.230-1401T>G)
c.*1393T>G (n.*1393T>G)
c.870T>G (p.Ser290Arg)
c.459T>G (p.Ser153Arg)
c.399T>G (p.Ser133Arg)
c.1083T>G (p.Ser361Arg)
c.1053T>G (p.Ser351Arg)
c.927T>G (p.Ser309Arg)
c.*385T>G (n.*385T>G)
16g.27362702T=CA2215169650IL4Rc.1350T= (p.Ser450=)
c.1305T= (p.Ser435=)
c.230-1401T= (n.230-1401T=)
c.*1393T= (n.*1393T=)
c.870T= (p.Ser290=)
c.459T= (p.Ser153=)
c.399T= (p.Ser133=)
c.1083T= (p.Ser361=)
c.1053T= (p.Ser351=)
c.927T= (p.Ser309=)
c.*385T= (n.*385T=)
16g.27362703G>ACA395298683IL4Rc.1351G>A (p.Ala451Thr)
c.1306G>A (p.Ala436Thr)
c.230-1400G>A (n.230-1400G>A)
c.*1394G>A (n.*1394G>A)
c.871G>A (p.Ala291Thr)
c.460G>A (p.Ala154Thr)
c.400G>A (p.Ala134Thr)
c.1084G>A (p.Ala362Thr)
c.1054G>A (p.Ala352Thr)
c.928G>A (p.Ala310Thr)
c.*386G>A (n.*386G>A)
16g.27362703G>CCA395298686IL4Rc.1351G>C (p.Ala451Pro)
c.1306G>C (p.Ala436Pro)
c.230-1400G>C (n.230-1400G>C)
c.*1394G>C (n.*1394G>C)
c.871G>C (p.Ala291Pro)
c.460G>C (p.Ala154Pro)
c.400G>C (p.Ala134Pro)
c.1084G>C (p.Ala362Pro)
c.1054G>C (p.Ala352Pro)
c.928G>C (p.Ala310Pro)
c.*386G>C (n.*386G>C)
16g.27362703G>TCA395298688IL4Rc.1351G>T (p.Ala451Ser)
c.1306G>T (p.Ala436Ser)
c.230-1400G>T (n.230-1400G>T)
c.*1394G>T (n.*1394G>T)
c.871G>T (p.Ala291Ser)
c.460G>T (p.Ala154Ser)
c.400G>T (p.Ala134Ser)
c.1084G>T (p.Ala362Ser)
c.1054G>T (p.Ala352Ser)
c.928G>T (p.Ala310Ser)
c.*386G>T (n.*386G>T)
16g.27362704C>ACA395298690IL4Rc.1352C>A (p.Ala451Glu)
c.1307C>A (p.Ala436Glu)
c.230-1399C>A (n.230-1399C>A)
c.*1395C>A (n.*1395C>A)
c.872C>A (p.Ala291Glu)
c.461C>A (p.Ala154Glu)
c.401C>A (p.Ala134Glu)
c.1085C>A (p.Ala362Glu)
c.1055C>A (p.Ala352Glu)
c.929C>A (p.Ala310Glu)
c.*387C>A (n.*387C>A)
16g.27362704C>GCA395298692IL4Rc.1352C>G (p.Ala451Gly)
c.1307C>G (p.Ala436Gly)
c.230-1399C>G (n.230-1399C>G)
c.*1395C>G (n.*1395C>G)
c.872C>G (p.Ala291Gly)
c.461C>G (p.Ala154Gly)
c.401C>G (p.Ala134Gly)
c.1085C>G (p.Ala362Gly)
c.1055C>G (p.Ala352Gly)
c.929C>G (p.Ala310Gly)
c.*387C>G (n.*387C>G)
16g.27362704C>TCA395298694IL4Rc.1352C>T (p.Ala451Val)
c.1307C>T (p.Ala436Val)
c.230-1399C>T (n.230-1399C>T)
c.*1395C>T (n.*1395C>T)
c.872C>T (p.Ala291Val)
c.461C>T (p.Ala154Val)
c.401C>T (p.Ala134Val)
c.1085C>T (p.Ala362Val)
c.1055C>T (p.Ala352Val)
c.929C>T (p.Ala310Val)
c.*387C>T (n.*387C>T)
16g.27362705A=CA2215169653IL4Rc.1353A= (p.Ala451=)
c.1308A= (p.Ala436=)
c.230-1398A= (n.230-1398A=)
c.*1396A= (n.*1396A=)
c.873A= (p.Ala291=)
c.462A= (p.Ala154=)
c.402A= (p.Ala134=)
c.1086A= (p.Ala362=)
c.1056A= (p.Ala352=)
c.930A= (p.Ala310=)
c.*388A= (n.*388A=)
16g.27362705A>CCA494470552IL4Rc.1353A>C (p.Ala451=)
c.1308A>C (p.Ala436=)
c.230-1398A>C (n.230-1398A>C)
c.*1396A>C (n.*1396A>C)
c.873A>C (p.Ala291=)
c.462A>C (p.Ala154=)
c.402A>C (p.Ala134=)
c.1086A>C (p.Ala362=)
c.1056A>C (p.Ala352=)
c.930A>C (p.Ala310=)
c.*388A>C (n.*388A>C)
dbSNP
16g.27362705A>GCA494470553IL4Rc.1353A>G (p.Ala451=)
c.1308A>G (p.Ala436=)
c.230-1398A>G (n.230-1398A>G)
c.*1396A>G (n.*1396A>G)
c.873A>G (p.Ala291=)
c.462A>G (p.Ala154=)
c.402A>G (p.Ala134=)
c.1086A>G (p.Ala362=)
c.1056A>G (p.Ala352=)
c.930A>G (p.Ala310=)
c.*388A>G (n.*388A>G)
16g.27362705A>TCA494470554IL4Rc.1353A>T (p.Ala451=)
c.1308A>T (p.Ala436=)
c.230-1398A>T (n.230-1398A>T)
c.*1396A>T (n.*1396A>T)
c.873A>T (p.Ala291=)
c.462A>T (p.Ala154=)
c.402A>T (p.Ala134=)
c.1086A>T (p.Ala362=)
c.1056A>T (p.Ala352=)
c.930A>T (p.Ala310=)
c.*388A>T (n.*388A>T)
16g.27362706G>ACA395298696IL4Rc.1354G>A (p.Gly452Arg)
c.1309G>A (p.Gly437Arg)
c.230-1397G>A (n.230-1397G>A)
c.*1397G>A (n.*1397G>A)
c.874G>A (p.Gly292Arg)
c.463G>A (p.Gly155Arg)
c.403G>A (p.Gly135Arg)
c.1087G>A (p.Gly363Arg)
c.1057G>A (p.Gly353Arg)
c.931G>A (p.Gly311Arg)
c.*389G>A (n.*389G>A)
gnomAD v4
16g.27362706G>CCA395298700IL4Rc.1354G>C (p.Gly452Arg)
c.1309G>C (p.Gly437Arg)
c.230-1397G>C (n.230-1397G>C)
c.*1397G>C (n.*1397G>C)
c.874G>C (p.Gly292Arg)
c.463G>C (p.Gly155Arg)
c.403G>C (p.Gly135Arg)
c.1087G>C (p.Gly363Arg)
c.1057G>C (p.Gly353Arg)
c.931G>C (p.Gly311Arg)
c.*389G>C (n.*389G>C)
16g.27362706G>TCA395298698IL4Rc.1354G>T (p.Gly452Trp)
c.1309G>T (p.Gly437Trp)
c.230-1397G>T (n.230-1397G>T)
c.*1397G>T (n.*1397G>T)
c.874G>T (p.Gly292Trp)
c.463G>T (p.Gly155Trp)
c.403G>T (p.Gly135Trp)
c.1087G>T (p.Gly363Trp)
c.1057G>T (p.Gly353Trp)
c.931G>T (p.Gly311Trp)
c.*389G>T (n.*389G>T)
16g.27362707G>ACA395298703IL4Rc.1355G>A (p.Gly452Glu)
c.1310G>A (p.Gly437Glu)
c.230-1396G>A (n.230-1396G>A)
c.*1398G>A (n.*1398G>A)
c.875G>A (p.Gly292Glu)
c.464G>A (p.Gly155Glu)
c.404G>A (p.Gly135Glu)
c.1088G>A (p.Gly363Glu)
c.1058G>A (p.Gly353Glu)
c.932G>A (p.Gly311Glu)
c.*390G>A (n.*390G>A)
16g.27362707G>CCA395298705IL4Rc.1355G>C (p.Gly452Ala)
c.1310G>C (p.Gly437Ala)
c.230-1396G>C (n.230-1396G>C)
c.*1398G>C (n.*1398G>C)
c.875G>C (p.Gly292Ala)
c.464G>C (p.Gly155Ala)
c.404G>C (p.Gly135Ala)
c.1088G>C (p.Gly363Ala)
c.1058G>C (p.Gly353Ala)
c.932G>C (p.Gly311Ala)
c.*390G>C (n.*390G>C)
16g.27362707G>TCA395298708IL4Rc.1355G>T (p.Gly452Val)
c.1310G>T (p.Gly437Val)
c.230-1396G>T (n.230-1396G>T)
c.*1398G>T (n.*1398G>T)
c.875G>T (p.Gly292Val)
c.464G>T (p.Gly155Val)
c.404G>T (p.Gly135Val)
c.1088G>T (p.Gly363Val)
c.1058G>T (p.Gly353Val)
c.932G>T (p.Gly311Val)
c.*390G>T (n.*390G>T)
16g.27362708G>ACA7974545IL4Rc.1356G>A (p.Gly452=)
c.1311G>A (p.Gly437=)
c.230-1395G>A (n.230-1395G>A)
c.*1399G>A (n.*1399G>A)
c.876G>A (p.Gly292=)
c.465G>A (p.Gly155=)
c.405G>A (p.Gly135=)
c.1089G>A (p.Gly363=)
c.1059G>A (p.Gly353=)
c.933G>A (p.Gly311=)
c.*391G>A (n.*391G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362708G>CCA494470555IL4Rc.1356G>C (p.Gly452=)
c.1311G>C (p.Gly437=)
c.230-1395G>C (n.230-1395G>C)
c.*1399G>C (n.*1399G>C)
c.876G>C (p.Gly292=)
c.465G>C (p.Gly155=)
c.405G>C (p.Gly135=)
c.1089G>C (p.Gly363=)
c.1059G>C (p.Gly353=)
c.933G>C (p.Gly311=)
c.*391G>C (n.*391G>C)
16g.27362708G=CA2215169654IL4Rc.1356G= (p.Gly452=)
c.1311G= (p.Gly437=)
c.230-1395G= (n.230-1395G=)
c.*1399G= (n.*1399G=)
c.876G= (p.Gly292=)
c.465G= (p.Gly155=)
c.405G= (p.Gly135=)
c.1089G= (p.Gly363=)
c.1059G= (p.Gly353=)
c.933G= (p.Gly311=)
c.*391G= (n.*391G=)
16g.27362708G>TCA494470556IL4Rc.1356G>T (p.Gly452=)
c.1311G>T (p.Gly437=)
c.230-1395G>T (n.230-1395G>T)
c.*1399G>T (n.*1399G>T)
c.876G>T (p.Gly292=)
c.465G>T (p.Gly155=)
c.405G>T (p.Gly135=)
c.1089G>T (p.Gly363=)
c.1059G>T (p.Gly353=)
c.933G>T (p.Gly311=)
c.*391G>T (n.*391G>T)
16g.27362709C>ACA279686712IL4Rc.1357C>A (p.Pro453Thr)
c.1312C>A (p.Pro438Thr)
c.230-1394C>A (n.230-1394C>A)
c.*1400C>A (n.*1400C>A)
c.877C>A (p.Pro293Thr)
c.466C>A (p.Pro156Thr)
c.406C>A (p.Pro136Thr)
c.1090C>A (p.Pro364Thr)
c.1060C>A (p.Pro354Thr)
c.934C>A (p.Pro312Thr)
c.*392C>A (n.*392C>A)
dbSNP
16g.27362709C=CA2215169660IL4Rc.1357C= (p.Pro453=)
c.1312C= (p.Pro438=)
c.230-1394C= (n.230-1394C=)
c.*1400C= (n.*1400C=)
c.877C= (p.Pro293=)
c.466C= (p.Pro156=)
c.406C= (p.Pro136=)
c.1090C= (p.Pro364=)
c.1060C= (p.Pro354=)
c.934C= (p.Pro312=)
c.*392C= (n.*392C=)
16g.27362709C>GCA395298716IL4Rc.1357C>G (p.Pro453Ala)
c.1312C>G (p.Pro438Ala)
c.230-1394C>G (n.230-1394C>G)
c.*1400C>G (n.*1400C>G)
c.877C>G (p.Pro293Ala)
c.466C>G (p.Pro156Ala)
c.406C>G (p.Pro136Ala)
c.1090C>G (p.Pro364Ala)
c.1060C>G (p.Pro354Ala)
c.934C>G (p.Pro312Ala)
c.*392C>G (n.*392C>G)
16g.27362709C>TCA395298714IL4Rc.1357C>T (p.Pro453Ser)
c.1312C>T (p.Pro438Ser)
c.230-1394C>T (n.230-1394C>T)
c.*1400C>T (n.*1400C>T)
c.877C>T (p.Pro293Ser)
c.466C>T (p.Pro156Ser)
c.406C>T (p.Pro136Ser)
c.1090C>T (p.Pro364Ser)
c.1060C>T (p.Pro354Ser)
c.934C>T (p.Pro312Ser)
c.*392C>T (n.*392C>T)
dbSNP gnomAD v2 gnomAD v4
16g.27362710C>ACA395298720IL4Rc.1358C>A (p.Pro453His)
c.1313C>A (p.Pro438His)
c.230-1393C>A (n.230-1393C>A)
c.*1401C>A (n.*1401C>A)
c.878C>A (p.Pro293His)
c.467C>A (p.Pro156His)
c.407C>A (p.Pro136His)
c.1091C>A (p.Pro364His)
c.1061C>A (p.Pro354His)
c.935C>A (p.Pro312His)
c.*393C>A (n.*393C>A)
16g.27362710C>GCA395298722IL4Rc.1358C>G (p.Pro453Arg)
c.1313C>G (p.Pro438Arg)
c.230-1393C>G (n.230-1393C>G)
c.*1401C>G (n.*1401C>G)
c.878C>G (p.Pro293Arg)
c.467C>G (p.Pro156Arg)
c.407C>G (p.Pro136Arg)
c.1091C>G (p.Pro364Arg)
c.1061C>G (p.Pro354Arg)
c.935C>G (p.Pro312Arg)
c.*393C>G (n.*393C>G)
16g.27362710C>TCA395298724IL4Rc.1358C>T (p.Pro453Leu)
c.1313C>T (p.Pro438Leu)
c.230-1393C>T (n.230-1393C>T)
c.*1401C>T (n.*1401C>T)
c.878C>T (p.Pro293Leu)
c.467C>T (p.Pro156Leu)
c.407C>T (p.Pro136Leu)
c.1091C>T (p.Pro364Leu)
c.1061C>T (p.Pro354Leu)
c.935C>T (p.Pro312Leu)
c.*393C>T (n.*393C>T)
dbSNP gnomAD v4
16g.27362711C>ACA494470557IL4Rc.1359C>A (p.Pro453=)
c.1314C>A (p.Pro438=)
c.230-1392C>A (n.230-1392C>A)
c.*1402C>A (n.*1402C>A)
c.879C>A (p.Pro293=)
c.468C>A (p.Pro156=)
c.408C>A (p.Pro136=)
c.1092C>A (p.Pro364=)
c.1062C>A (p.Pro354=)
c.936C>A (p.Pro312=)
c.*394C>A (n.*394C>A)
16g.27362711C=CA2215169662IL4Rc.1359C= (p.Pro453=)
c.1314C= (p.Pro438=)
c.230-1392C= (n.230-1392C=)
c.*1402C= (n.*1402C=)
c.879C= (p.Pro293=)
c.468C= (p.Pro156=)
c.408C= (p.Pro136=)
c.1092C= (p.Pro364=)
c.1062C= (p.Pro354=)
c.936C= (p.Pro312=)
c.*394C= (n.*394C=)
16g.27362711C>GCA494470558IL4Rc.1359C>G (p.Pro453=)
c.1314C>G (p.Pro438=)
c.230-1392C>G (n.230-1392C>G)
c.*1402C>G (n.*1402C>G)
c.879C>G (p.Pro293=)
c.468C>G (p.Pro156=)
c.408C>G (p.Pro136=)
c.1092C>G (p.Pro364=)
c.1062C>G (p.Pro354=)
c.936C>G (p.Pro312=)
c.*394C>G (n.*394C>G)
16g.27362711C>TCA494470559IL4Rc.1359C>T (p.Pro453=)
c.1314C>T (p.Pro438=)
c.230-1392C>T (n.230-1392C>T)
c.*1402C>T (n.*1402C>T)
c.879C>T (p.Pro293=)
c.468C>T (p.Pro156=)
c.408C>T (p.Pro136=)
c.1092C>T (p.Pro364=)
c.1062C>T (p.Pro354=)
c.936C>T (p.Pro312=)
c.*394C>T (n.*394C>T)
dbSNP gnomAD v2 gnomAD v4
16g.27362711_27362712delinsCACA2215169661IL4Rc.1359_1360delinsCA (p.Pro453=)
c.1314_1315delinsCA (p.Pro438=)
c.230-1392_230-1391delinsCA (n.230-1392_230-1391delinsCA)
c.*1402_*1403delinsCA (n.*1402_*1403delinsCA)
c.879_880delinsCA (p.Pro293=)
c.468_469delinsCA (p.Pro156=)
c.408_409delinsCA (p.Pro136=)
c.1092_1093delinsCA (p.Pro364=)
c.1062_1063delinsCA (p.Pro354=)
c.936_937delinsCA (p.Pro312=)
c.*394_*395delinsCA (n.*394_*395delinsCA)
16g.27362712A=CA2215169668IL4Rc.1360A= (p.Lys454=)
c.1315A= (p.Lys439=)
c.230-1391A= (n.230-1391A=)
c.*1403A= (n.*1403A=)
c.880A= (p.Lys294=)
c.469A= (p.Lys157=)
c.409A= (p.Lys137=)
c.1093A= (p.Lys365=)
c.1063A= (p.Lys355=)
c.937A= (p.Lys313=)
c.*395A= (n.*395A=)
16g.27362712A>CCA395298727IL4Rc.1360A>C (p.Lys454Gln)
c.1315A>C (p.Lys439Gln)
c.230-1391A>C (n.230-1391A>C)
c.*1403A>C (n.*1403A>C)
c.880A>C (p.Lys294Gln)
c.469A>C (p.Lys157Gln)
c.409A>C (p.Lys137Gln)
c.1093A>C (p.Lys365Gln)
c.1063A>C (p.Lys355Gln)
c.937A>C (p.Lys313Gln)
c.*395A>C (n.*395A>C)
16g.27362712A>GCA279686734IL4Rc.1360A>G (p.Lys454Glu)
c.1315A>G (p.Lys439Glu)
c.230-1391A>G (n.230-1391A>G)
c.*1403A>G (n.*1403A>G)
c.880A>G (p.Lys294Glu)
c.469A>G (p.Lys157Glu)
c.409A>G (p.Lys137Glu)
c.1093A>G (p.Lys365Glu)
c.1063A>G (p.Lys355Glu)
c.937A>G (p.Lys313Glu)
c.*395A>G (n.*395A>G)
dbSNP gnomAD v4
16g.27362712A>TCA395298728IL4Rc.1360A>T (p.Lys454Ter)
c.1315A>T (p.Lys439Ter)
c.230-1391A>T (n.230-1391A>T)
c.*1403A>T (n.*1403A>T)
c.880A>T (p.Lys294Ter)
c.469A>T (p.Lys157Ter)
c.409A>T (p.Lys137Ter)
c.1093A>T (p.Lys365Ter)
c.1063A>T (p.Lys355Ter)
c.937A>T (p.Lys313Ter)
c.*395A>T (n.*395A>T)
16g.27362713delCA2215169667IL4Rc.1361del (p.Lys454ArgfsTer29)
c.1316del (p.Lys439ArgfsTer29)
c.230-1390del (n.230-1390del)
c.*1404del (n.*1404del)
c.881del (p.Lys294ArgfsTer29)
c.470del (p.Lys157ArgfsTer29)
c.410del (p.Lys137ArgfsTer29)
c.1094del (p.Lys365ArgfsTer29)
c.1064del (p.Lys355ArgfsTer29)
c.938del (p.Lys313ArgfsTer29)
c.*396del (n.*396del)
dbSNP
16g.27362713A>CCA395298729IL4Rc.1361A>C (p.Lys454Thr)
c.1316A>C (p.Lys439Thr)
c.230-1390A>C (n.230-1390A>C)
c.*1404A>C (n.*1404A>C)
c.881A>C (p.Lys294Thr)
c.470A>C (p.Lys157Thr)
c.410A>C (p.Lys137Thr)
c.1094A>C (p.Lys365Thr)
c.1064A>C (p.Lys355Thr)
c.938A>C (p.Lys313Thr)
c.*396A>C (n.*396A>C)
16g.27362713A>GCA395298730IL4Rc.1361A>G (p.Lys454Arg)
c.1316A>G (p.Lys439Arg)
c.230-1390A>G (n.230-1390A>G)
c.*1404A>G (n.*1404A>G)
c.881A>G (p.Lys294Arg)
c.470A>G (p.Lys157Arg)
c.410A>G (p.Lys137Arg)
c.1094A>G (p.Lys365Arg)
c.1064A>G (p.Lys355Arg)
c.938A>G (p.Lys313Arg)
c.*396A>G (n.*396A>G)
16g.27362713A>TCA395298731IL4Rc.1361A>T (p.Lys454Met)
c.1316A>T (p.Lys439Met)
c.230-1390A>T (n.230-1390A>T)
c.*1404A>T (n.*1404A>T)
c.881A>T (p.Lys294Met)
c.470A>T (p.Lys157Met)
c.410A>T (p.Lys137Met)
c.1094A>T (p.Lys365Met)
c.1064A>T (p.Lys355Met)
c.938A>T (p.Lys313Met)
c.*396A>T (n.*396A>T)
COSMIC COSMIC
16g.27362714G>ACA494470560IL4Rc.1362G>A (p.Lys454=)
c.1317G>A (p.Lys439=)
c.230-1389G>A (n.230-1389G>A)
c.*1405G>A (n.*1405G>A)
c.882G>A (p.Lys294=)
c.471G>A (p.Lys157=)
c.411G>A (p.Lys137=)
c.1095G>A (p.Lys365=)
c.1065G>A (p.Lys355=)
c.939G>A (p.Lys313=)
c.*397G>A (n.*397G>A)
gnomAD v4
16g.27362714G>CCA395298732IL4Rc.1362G>C (p.Lys454Asn)
c.1317G>C (p.Lys439Asn)
c.230-1389G>C (n.230-1389G>C)
c.*1405G>C (n.*1405G>C)
c.882G>C (p.Lys294Asn)
c.471G>C (p.Lys157Asn)
c.411G>C (p.Lys137Asn)
c.1095G>C (p.Lys365Asn)
c.1065G>C (p.Lys355Asn)
c.939G>C (p.Lys313Asn)
c.*397G>C (n.*397G>C)
gnomAD v4
16g.27362714G>TCA395298733IL4Rc.1362G>T (p.Lys454Asn)
c.1317G>T (p.Lys439Asn)
c.230-1389G>T (n.230-1389G>T)
c.*1405G>T (n.*1405G>T)
c.882G>T (p.Lys294Asn)
c.471G>T (p.Lys157Asn)
c.411G>T (p.Lys137Asn)
c.1095G>T (p.Lys365Asn)
c.1065G>T (p.Lys355Asn)
c.939G>T (p.Lys313Asn)
c.*397G>T (n.*397G>T)
16g.27362715G>ACA395298734IL4Rc.1363G>A (p.Glu455Lys)
c.1318G>A (p.Glu440Lys)
c.230-1388G>A (n.230-1388G>A)
c.*1406G>A (n.*1406G>A)
c.883G>A (p.Glu295Lys)
c.472G>A (p.Glu158Lys)
c.412G>A (p.Glu138Lys)
c.1096G>A (p.Glu366Lys)
c.1066G>A (p.Glu356Lys)
c.940G>A (p.Glu314Lys)
c.*398G>A (n.*398G>A)
dbSNP gnomAD v2 gnomAD v4
16g.27362715G>CCA395298736IL4Rc.1363G>C (p.Glu455Gln)
c.1318G>C (p.Glu440Gln)
c.230-1388G>C (n.230-1388G>C)
c.*1406G>C (n.*1406G>C)
c.883G>C (p.Glu295Gln)
c.472G>C (p.Glu158Gln)
c.412G>C (p.Glu138Gln)
c.1096G>C (p.Glu366Gln)
c.1066G>C (p.Glu356Gln)
c.940G>C (p.Glu314Gln)
c.*398G>C (n.*398G>C)
16g.27362715G=CA2215169674IL4Rc.1363G= (p.Glu455=)
c.1318G= (p.Glu440=)
c.230-1388G= (n.230-1388G=)
c.*1406G= (n.*1406G=)
c.883G= (p.Glu295=)
c.472G= (p.Glu158=)
c.412G= (p.Glu138=)
c.1096G= (p.Glu366=)
c.1066G= (p.Glu356=)
c.940G= (p.Glu314=)
c.*398G= (n.*398G=)
16g.27362715G>TCA395298735IL4Rc.1363G>T (p.Glu455Ter)
c.1318G>T (p.Glu440Ter)
c.230-1388G>T (n.230-1388G>T)
c.*1406G>T (n.*1406G>T)
c.883G>T (p.Glu295Ter)
c.472G>T (p.Glu158Ter)
c.412G>T (p.Glu138Ter)
c.1096G>T (p.Glu366Ter)
c.1066G>T (p.Glu356Ter)
c.940G>T (p.Glu314Ter)
c.*398G>T (n.*398G>T)
16g.27362716A>CCA395298737IL4Rc.1364A>C (p.Glu455Ala)
c.1319A>C (p.Glu440Ala)
c.230-1387A>C (n.230-1387A>C)
c.*1407A>C (n.*1407A>C)
c.884A>C (p.Glu295Ala)
c.473A>C (p.Glu158Ala)
c.413A>C (p.Glu138Ala)
c.1097A>C (p.Glu366Ala)
c.1067A>C (p.Glu356Ala)
c.941A>C (p.Glu314Ala)
c.*399A>C (n.*399A>C)
16g.27362716A>GCA395298739IL4Rc.1364A>G (p.Glu455Gly)
c.1319A>G (p.Glu440Gly)
c.230-1387A>G (n.230-1387A>G)
c.*1407A>G (n.*1407A>G)
c.884A>G (p.Glu295Gly)
c.473A>G (p.Glu158Gly)
c.413A>G (p.Glu138Gly)
c.1097A>G (p.Glu366Gly)
c.1067A>G (p.Glu356Gly)
c.941A>G (p.Glu314Gly)
c.*399A>G (n.*399A>G)
16g.27362716A>TCA395298738IL4Rc.1364A>T (p.Glu455Val)
c.1319A>T (p.Glu440Val)
c.230-1387A>T (n.230-1387A>T)
c.*1407A>T (n.*1407A>T)
c.884A>T (p.Glu295Val)
c.473A>T (p.Glu158Val)
c.413A>T (p.Glu138Val)
c.1097A>T (p.Glu366Val)
c.1067A>T (p.Glu356Val)
c.941A>T (p.Glu314Val)
c.*399A>T (n.*399A>T)
gnomAD v4
16g.27362717G>ACA7974546IL4Rc.1365G>A (p.Glu455=)
c.1320G>A (p.Glu440=)
c.230-1386G>A (n.230-1386G>A)
c.*1408G>A (n.*1408G>A)
c.885G>A (p.Glu295=)
c.474G>A (p.Glu158=)
c.414G>A (p.Glu138=)
c.1098G>A (p.Glu366=)
c.1068G>A (p.Glu356=)
c.942G>A (p.Glu314=)
c.*400G>A (n.*400G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362717G>CCA395298740IL4Rc.1365G>C (p.Glu455Asp)
c.1320G>C (p.Glu440Asp)
c.230-1386G>C (n.230-1386G>C)
c.*1408G>C (n.*1408G>C)
c.885G>C (p.Glu295Asp)
c.474G>C (p.Glu158Asp)
c.414G>C (p.Glu138Asp)
c.1098G>C (p.Glu366Asp)
c.1068G>C (p.Glu356Asp)
c.942G>C (p.Glu314Asp)
c.*400G>C (n.*400G>C)
16g.27362717G=CA2215169677IL4Rc.1365G= (p.Glu455=)
c.1320G= (p.Glu440=)
c.230-1386G= (n.230-1386G=)
c.*1408G= (n.*1408G=)
c.885G= (p.Glu295=)
c.474G= (p.Glu158=)
c.414G= (p.Glu138=)
c.1098G= (p.Glu366=)
c.1068G= (p.Glu356=)
c.942G= (p.Glu314=)
c.*400G= (n.*400G=)
16g.27362717G>TCA395298741IL4Rc.1365G>T (p.Glu455Asp)
c.1320G>T (p.Glu440Asp)
c.230-1386G>T (n.230-1386G>T)
c.*1408G>T (n.*1408G>T)
c.885G>T (p.Glu295Asp)
c.474G>T (p.Glu158Asp)
c.414G>T (p.Glu138Asp)
c.1098G>T (p.Glu366Asp)
c.1068G>T (p.Glu356Asp)
c.942G>T (p.Glu314Asp)
c.*400G>T (n.*400G>T)
16g.27362718G>ACA395298742IL4Rc.1366G>A (p.Ala456Thr)
c.1321G>A (p.Ala441Thr)
c.230-1385G>A (n.230-1385G>A)
c.*1409G>A (n.*1409G>A)
c.886G>A (p.Ala296Thr)
c.475G>A (p.Ala159Thr)
c.415G>A (p.Ala139Thr)
c.1099G>A (p.Ala367Thr)
c.1069G>A (p.Ala357Thr)
c.943G>A (p.Ala315Thr)
c.*401G>A (n.*401G>A)
16g.27362718G>CCA395298743IL4Rc.1366G>C (p.Ala456Pro)
c.1321G>C (p.Ala441Pro)
c.230-1385G>C (n.230-1385G>C)
c.*1409G>C (n.*1409G>C)
c.886G>C (p.Ala296Pro)
c.475G>C (p.Ala159Pro)
c.415G>C (p.Ala139Pro)
c.1099G>C (p.Ala367Pro)
c.1069G>C (p.Ala357Pro)
c.943G>C (p.Ala315Pro)
c.*401G>C (n.*401G>C)
16g.27362718G>TCA395298744IL4Rc.1366G>T (p.Ala456Ser)
c.1321G>T (p.Ala441Ser)
c.230-1385G>T (n.230-1385G>T)
c.*1409G>T (n.*1409G>T)
c.886G>T (p.Ala296Ser)
c.475G>T (p.Ala159Ser)
c.415G>T (p.Ala139Ser)
c.1099G>T (p.Ala367Ser)
c.1069G>T (p.Ala357Ser)
c.943G>T (p.Ala315Ser)
c.*401G>T (n.*401G>T)
16g.27362719C>ACA395298745IL4Rc.1367C>A (p.Ala456Glu)
c.1322C>A (p.Ala441Glu)
c.230-1384C>A (n.230-1384C>A)
c.*1410C>A (n.*1410C>A)
c.887C>A (p.Ala296Glu)
c.476C>A (p.Ala159Glu)
c.416C>A (p.Ala139Glu)
c.1100C>A (p.Ala367Glu)
c.1070C>A (p.Ala357Glu)
c.944C>A (p.Ala315Glu)
c.*402C>A (n.*402C>A)
16g.27362719C>GCA395298746IL4Rc.1367C>G (p.Ala456Gly)
c.1322C>G (p.Ala441Gly)
c.230-1384C>G (n.230-1384C>G)
c.*1410C>G (n.*1410C>G)
c.887C>G (p.Ala296Gly)
c.476C>G (p.Ala159Gly)
c.416C>G (p.Ala139Gly)
c.1100C>G (p.Ala367Gly)
c.1070C>G (p.Ala357Gly)
c.944C>G (p.Ala315Gly)
c.*402C>G (n.*402C>G)
16g.27362719C>TCA395298747IL4Rc.1367C>T (p.Ala456Val)
c.1322C>T (p.Ala441Val)
c.230-1384C>T (n.230-1384C>T)
c.*1410C>T (n.*1410C>T)
c.887C>T (p.Ala296Val)
c.476C>T (p.Ala159Val)
c.416C>T (p.Ala139Val)
c.1100C>T (p.Ala367Val)
c.1070C>T (p.Ala357Val)
c.944C>T (p.Ala315Val)
c.*402C>T (n.*402C>T)
gnomAD v4
16g.27362720A=CA2215169679IL4Rc.1368A= (p.Ala456=)
c.1323A= (p.Ala441=)
c.230-1383A= (n.230-1383A=)
c.*1411A= (n.*1411A=)
c.888A= (p.Ala296=)
c.477A= (p.Ala159=)
c.417A= (p.Ala139=)
c.1101A= (p.Ala367=)
c.1071A= (p.Ala357=)
c.945A= (p.Ala315=)
c.*403A= (n.*403A=)
16g.27362720A>CCA494470563IL4Rc.1368A>C (p.Ala456=)
c.1323A>C (p.Ala441=)
c.230-1383A>C (n.230-1383A>C)
c.*1411A>C (n.*1411A>C)
c.888A>C (p.Ala296=)
c.477A>C (p.Ala159=)
c.417A>C (p.Ala139=)
c.1101A>C (p.Ala367=)
c.1071A>C (p.Ala357=)
c.945A>C (p.Ala315=)
c.*403A>C (n.*403A>C)
dbSNP
16g.27362720A>GCA494470564IL4Rc.1368A>G (p.Ala456=)
c.1323A>G (p.Ala441=)
c.230-1383A>G (n.230-1383A>G)
c.*1411A>G (n.*1411A>G)
c.888A>G (p.Ala296=)
c.477A>G (p.Ala159=)
c.417A>G (p.Ala139=)
c.1101A>G (p.Ala367=)
c.1071A>G (p.Ala357=)
c.945A>G (p.Ala315=)
c.*403A>G (n.*403A>G)
16g.27362720A>TCA494470565IL4Rc.1368A>T (p.Ala456=)
c.1323A>T (p.Ala441=)
c.230-1383A>T (n.230-1383A>T)
c.*1411A>T (n.*1411A>T)
c.888A>T (p.Ala296=)
c.477A>T (p.Ala159=)
c.417A>T (p.Ala139=)
c.1101A>T (p.Ala367=)
c.1071A>T (p.Ala357=)
c.945A>T (p.Ala315=)
c.*403A>T (n.*403A>T)
dbSNP gnomAD v3 gnomAD v4
16g.27362721C>ACA395298748IL4Rc.1369C>A (p.Pro457Thr)
c.1324C>A (p.Pro442Thr)
c.230-1382C>A (n.230-1382C>A)
c.*1412C>A (n.*1412C>A)
c.889C>A (p.Pro297Thr)
c.478C>A (p.Pro160Thr)
c.418C>A (p.Pro140Thr)
c.1102C>A (p.Pro368Thr)
c.1072C>A (p.Pro358Thr)
c.946C>A (p.Pro316Thr)
c.*404C>A (n.*404C>A)
16g.27362721C>GCA395298749IL4Rc.1369C>G (p.Pro457Ala)
c.1324C>G (p.Pro442Ala)
c.230-1382C>G (n.230-1382C>G)
c.*1412C>G (n.*1412C>G)
c.889C>G (p.Pro297Ala)
c.478C>G (p.Pro160Ala)
c.418C>G (p.Pro140Ala)
c.1102C>G (p.Pro368Ala)
c.1072C>G (p.Pro358Ala)
c.946C>G (p.Pro316Ala)
c.*404C>G (n.*404C>G)
16g.27362721C>TCA395298750IL4Rc.1369C>T (p.Pro457Ser)
c.1324C>T (p.Pro442Ser)
c.230-1382C>T (n.230-1382C>T)
c.*1412C>T (n.*1412C>T)
c.889C>T (p.Pro297Ser)
c.478C>T (p.Pro160Ser)
c.418C>T (p.Pro140Ser)
c.1102C>T (p.Pro368Ser)
c.1072C>T (p.Pro358Ser)
c.946C>T (p.Pro316Ser)
c.*404C>T (n.*404C>T)
gnomAD v4
16g.27362722C>ACA395298751IL4Rc.1370C>A (p.Pro457His)
c.1325C>A (p.Pro442His)
c.230-1381C>A (n.230-1381C>A)
c.*1413C>A (n.*1413C>A)
c.890C>A (p.Pro297His)
c.479C>A (p.Pro160His)
c.419C>A (p.Pro140His)
c.1103C>A (p.Pro368His)
c.1073C>A (p.Pro358His)
c.947C>A (p.Pro316His)
c.*405C>A (n.*405C>A)
16g.27362722C>GCA395298753IL4Rc.1370C>G (p.Pro457Arg)
c.1325C>G (p.Pro442Arg)
c.230-1381C>G (n.230-1381C>G)
c.*1413C>G (n.*1413C>G)
c.890C>G (p.Pro297Arg)
c.479C>G (p.Pro160Arg)
c.419C>G (p.Pro140Arg)
c.1103C>G (p.Pro368Arg)
c.1073C>G (p.Pro358Arg)
c.947C>G (p.Pro316Arg)
c.*405C>G (n.*405C>G)
16g.27362722C>TCA395298752IL4Rc.1370C>T (p.Pro457Leu)
c.1325C>T (p.Pro442Leu)
c.230-1381C>T (n.230-1381C>T)
c.*1413C>T (n.*1413C>T)
c.890C>T (p.Pro297Leu)
c.479C>T (p.Pro160Leu)
c.419C>T (p.Pro140Leu)
c.1103C>T (p.Pro368Leu)
c.1073C>T (p.Pro358Leu)
c.947C>T (p.Pro316Leu)
c.*405C>T (n.*405C>T)
gnomAD v4
16g.27362723T>ACA494470566IL4Rc.1371T>A (p.Pro457=)
c.1326T>A (p.Pro442=)
c.230-1380T>A (n.230-1380T>A)
c.*1414T>A (n.*1414T>A)
c.891T>A (p.Pro297=)
c.480T>A (p.Pro160=)
c.420T>A (p.Pro140=)
c.1104T>A (p.Pro368=)
c.1074T>A (p.Pro358=)
c.948T>A (p.Pro316=)
c.*406T>A (n.*406T>A)
16g.27362723T>CCA494470567IL4Rc.1371T>C (p.Pro457=)
c.1326T>C (p.Pro442=)
c.230-1380T>C (n.230-1380T>C)
c.*1414T>C (n.*1414T>C)
c.891T>C (p.Pro297=)
c.480T>C (p.Pro160=)
c.420T>C (p.Pro140=)
c.1104T>C (p.Pro368=)
c.1074T>C (p.Pro358=)
c.948T>C (p.Pro316=)
c.*406T>C (n.*406T>C)
16g.27362723T>GCA494470568IL4Rc.1371T>G (p.Pro457=)
c.1326T>G (p.Pro442=)
c.230-1380T>G (n.230-1380T>G)
c.*1414T>G (n.*1414T>G)
c.891T>G (p.Pro297=)
c.480T>G (p.Pro160=)
c.420T>G (p.Pro140=)
c.1104T>G (p.Pro368=)
c.1074T>G (p.Pro358=)
c.948T>G (p.Pro316=)
c.*406T>G (n.*406T>G)
16g.27362724C>ACA395298754IL4Rc.1372C>A (p.Pro458Thr)
c.1327C>A (p.Pro443Thr)
c.230-1379C>A (n.230-1379C>A)
c.*1415C>A (n.*1415C>A)
c.892C>A (p.Pro298Thr)
c.481C>A (p.Pro161Thr)
c.421C>A (p.Pro141Thr)
c.1105C>A (p.Pro369Thr)
c.1075C>A (p.Pro359Thr)
c.949C>A (p.Pro317Thr)
c.*407C>A (n.*407C>A)
16g.27362724C>GCA395298755IL4Rc.1372C>G (p.Pro458Ala)
c.1327C>G (p.Pro443Ala)
c.230-1379C>G (n.230-1379C>G)
c.*1415C>G (n.*1415C>G)
c.892C>G (p.Pro298Ala)
c.481C>G (p.Pro161Ala)
c.421C>G (p.Pro141Ala)
c.1105C>G (p.Pro369Ala)
c.1075C>G (p.Pro359Ala)
c.949C>G (p.Pro317Ala)
c.*407C>G (n.*407C>G)
16g.27362724C>TCA395298756IL4Rc.1372C>T (p.Pro458Ser)
c.1327C>T (p.Pro443Ser)
c.230-1379C>T (n.230-1379C>T)
c.*1415C>T (n.*1415C>T)
c.892C>T (p.Pro298Ser)
c.481C>T (p.Pro161Ser)
c.421C>T (p.Pro141Ser)
c.1105C>T (p.Pro369Ser)
c.1075C>T (p.Pro359Ser)
c.949C>T (p.Pro317Ser)
c.*407C>T (n.*407C>T)
16g.27362725C>ACA395298757IL4Rc.1373C>A (p.Pro458His)
c.1328C>A (p.Pro443His)
c.230-1378C>A (n.230-1378C>A)
c.*1416C>A (n.*1416C>A)
c.893C>A (p.Pro298His)
c.482C>A (p.Pro161His)
c.422C>A (p.Pro141His)
c.1106C>A (p.Pro369His)
c.1076C>A (p.Pro359His)
c.950C>A (p.Pro317His)
c.*408C>A (n.*408C>A)
16g.27362725C=CA2215169682IL4Rc.1373C= (p.Pro458=)
c.1328C= (p.Pro443=)
c.230-1378C= (n.230-1378C=)
c.*1416C= (n.*1416C=)
c.893C= (p.Pro298=)
c.482C= (p.Pro161=)
c.422C= (p.Pro141=)
c.1106C= (p.Pro369=)
c.1076C= (p.Pro359=)
c.950C= (p.Pro317=)
c.*408C= (n.*408C=)
16g.27362725C>GCA395298758IL4Rc.1373C>G (p.Pro458Arg)
c.1328C>G (p.Pro443Arg)
c.230-1378C>G (n.230-1378C>G)
c.*1416C>G (n.*1416C>G)
c.893C>G (p.Pro298Arg)
c.482C>G (p.Pro161Arg)
c.422C>G (p.Pro141Arg)
c.1106C>G (p.Pro369Arg)
c.1076C>G (p.Pro359Arg)
c.950C>G (p.Pro317Arg)
c.*408C>G (n.*408C>G)
16g.27362725C>TCA7974547IL4Rc.1373C>T (p.Pro458Leu)
c.1328C>T (p.Pro443Leu)
c.230-1378C>T (n.230-1378C>T)
c.*1416C>T (n.*1416C>T)
c.893C>T (p.Pro298Leu)
c.482C>T (p.Pro161Leu)
c.422C>T (p.Pro141Leu)
c.1106C>T (p.Pro369Leu)
c.1076C>T (p.Pro359Leu)
c.950C>T (p.Pro317Leu)
c.*408C>T (n.*408C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362726C>ACA494470570IL4Rc.1374C>A (p.Pro458=)
c.1329C>A (p.Pro443=)
c.230-1377C>A (n.230-1377C>A)
c.*1417C>A (n.*1417C>A)
c.894C>A (p.Pro298=)
c.483C>A (p.Pro161=)
c.423C>A (p.Pro141=)
c.1107C>A (p.Pro369=)
c.1077C>A (p.Pro359=)
c.951C>A (p.Pro317=)
c.*409C>A (n.*409C>A)
16g.27362726C=CA2215169684IL4Rc.1374C= (p.Pro458=)
c.1329C= (p.Pro443=)
c.230-1377C= (n.230-1377C=)
c.*1417C= (n.*1417C=)
c.894C= (p.Pro298=)
c.483C= (p.Pro161=)
c.423C= (p.Pro141=)
c.1107C= (p.Pro369=)
c.1077C= (p.Pro359=)
c.951C= (p.Pro317=)
c.*409C= (n.*409C=)
16g.27362726C>GCA494470571IL4Rc.1374C>G (p.Pro458=)
c.1329C>G (p.Pro443=)
c.230-1377C>G (n.230-1377C>G)
c.*1417C>G (n.*1417C>G)
c.894C>G (p.Pro298=)
c.483C>G (p.Pro161=)
c.423C>G (p.Pro141=)
c.1107C>G (p.Pro369=)
c.1077C>G (p.Pro359=)
c.951C>G (p.Pro317=)
c.*409C>G (n.*409C>G)
16g.27362726C>TCA7974548IL4Rc.1374C>T (p.Pro458=)
c.1329C>T (p.Pro443=)
c.230-1377C>T (n.230-1377C>T)
c.*1417C>T (n.*1417C>T)
c.894C>T (p.Pro298=)
c.483C>T (p.Pro161=)
c.423C>T (p.Pro141=)
c.1107C>T (p.Pro369=)
c.1077C>T (p.Pro359=)
c.951C>T (p.Pro317=)
c.*409C>T (n.*409C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.27362727T>ACA395298759IL4Rc.1375T>A (p.Trp459Arg)
c.1330T>A (p.Trp444Arg)
c.230-1376T>A (n.230-1376T>A)
c.*1418T>A (n.*1418T>A)
c.895T>A (p.Trp299Arg)
c.484T>A (p.Trp162Arg)
c.424T>A (p.Trp142Arg)
c.1108T>A (p.Trp370Arg)
c.1078T>A (p.Trp360Arg)
c.952T>A (p.Trp318Arg)
c.*410T>A (n.*410T>A)
16g.27362727T>CCA7974549IL4Rc.1375T>C (p.Trp459Arg)
c.1330T>C (p.Trp444Arg)
c.230-1376T>C (n.230-1376T>C)
c.*1418T>C (n.*1418T>C)
c.895T>C (p.Trp299Arg)
c.484T>C (p.Trp162Arg)
c.424T>C (p.Trp142Arg)
c.1108T>C (p.Trp370Arg)
c.1078T>C (p.Trp360Arg)
c.952T>C (p.Trp318Arg)
c.*410T>C (n.*410T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362727T>GCA395298760IL4Rc.1375T>G (p.Trp459Gly)
c.1330T>G (p.Trp444Gly)
c.230-1376T>G (n.230-1376T>G)
c.*1418T>G (n.*1418T>G)
c.895T>G (p.Trp299Gly)
c.484T>G (p.Trp162Gly)
c.424T>G (p.Trp142Gly)
c.1108T>G (p.Trp370Gly)
c.1078T>G (p.Trp360Gly)
c.952T>G (p.Trp318Gly)
c.*410T>G (n.*410T>G)
16g.27362727T=CA2215169686IL4Rc.1375T= (p.Trp459=)
c.1330T= (p.Trp444=)
c.230-1376T= (n.230-1376T=)
c.*1418T= (n.*1418T=)
c.895T= (p.Trp299=)
c.484T= (p.Trp162=)
c.424T= (p.Trp142=)
c.1108T= (p.Trp370=)
c.1078T= (p.Trp360=)
c.952T= (p.Trp318=)
c.*410T= (n.*410T=)
16g.27362728G>ACA395298762IL4Rc.1376G>A (p.Trp459Ter)
c.1331G>A (p.Trp444Ter)
c.230-1375G>A (n.230-1375G>A)
c.*1419G>A (n.*1419G>A)
c.896G>A (p.Trp299Ter)
c.485G>A (p.Trp162Ter)
c.425G>A (p.Trp142Ter)
c.1109G>A (p.Trp370Ter)
c.1079G>A (p.Trp360Ter)
c.953G>A (p.Trp318Ter)
c.*411G>A (n.*411G>A)
16g.27362728G>CCA395298763IL4Rc.1376G>C (p.Trp459Ser)
c.1331G>C (p.Trp444Ser)
c.230-1375G>C (n.230-1375G>C)
c.*1419G>C (n.*1419G>C)
c.896G>C (p.Trp299Ser)
c.485G>C (p.Trp162Ser)
c.425G>C (p.Trp142Ser)
c.1109G>C (p.Trp370Ser)
c.1079G>C (p.Trp360Ser)
c.953G>C (p.Trp318Ser)
c.*411G>C (n.*411G>C)
16g.27362728G>TCA395298761IL4Rc.1376G>T (p.Trp459Leu)
c.1331G>T (p.Trp444Leu)
c.230-1375G>T (n.230-1375G>T)
c.*1419G>T (n.*1419G>T)
c.896G>T (p.Trp299Leu)
c.485G>T (p.Trp162Leu)
c.425G>T (p.Trp142Leu)
c.1109G>T (p.Trp370Leu)
c.1079G>T (p.Trp360Leu)
c.953G>T (p.Trp318Leu)
c.*411G>T (n.*411G>T)
16g.27362729G>ACA395298764IL4Rc.1377G>A (p.Trp459Ter)
c.1332G>A (p.Trp444Ter)
c.230-1374G>A (n.230-1374G>A)
c.*1420G>A (n.*1420G>A)
c.897G>A (p.Trp299Ter)
c.486G>A (p.Trp162Ter)
c.426G>A (p.Trp142Ter)
c.1110G>A (p.Trp370Ter)
c.1080G>A (p.Trp360Ter)
c.954G>A (p.Trp318Ter)
c.*412G>A (n.*412G>A)
gnomAD v4
16g.27362729G>CCA395298765IL4Rc.1377G>C (p.Trp459Cys)
c.1332G>C (p.Trp444Cys)
c.230-1374G>C (n.230-1374G>C)
c.*1420G>C (n.*1420G>C)
c.897G>C (p.Trp299Cys)
c.486G>C (p.Trp162Cys)
c.426G>C (p.Trp142Cys)
c.1110G>C (p.Trp370Cys)
c.1080G>C (p.Trp360Cys)
c.954G>C (p.Trp318Cys)
c.*412G>C (n.*412G>C)
16g.27362729G>TCA395298766IL4Rc.1377G>T (p.Trp459Cys)
c.1332G>T (p.Trp444Cys)
c.230-1374G>T (n.230-1374G>T)
c.*1420G>T (n.*1420G>T)
c.897G>T (p.Trp299Cys)
c.486G>T (p.Trp162Cys)
c.426G>T (p.Trp142Cys)
c.1110G>T (p.Trp370Cys)
c.1080G>T (p.Trp360Cys)
c.954G>T (p.Trp318Cys)
c.*412G>T (n.*412G>T)
16g.27362730G>ACA395298767IL4Rc.1378G>A (p.Gly460Ser)
c.1333G>A (p.Gly445Ser)
c.230-1373G>A (n.230-1373G>A)
c.*1421G>A (n.*1421G>A)
c.898G>A (p.Gly300Ser)
c.487G>A (p.Gly163Ser)
c.427G>A (p.Gly143Ser)
c.1111G>A (p.Gly371Ser)
c.1081G>A (p.Gly361Ser)
c.955G>A (p.Gly319Ser)
c.*413G>A (n.*413G>A)
16g.27362730G>CCA395298768IL4Rc.1378G>C (p.Gly460Arg)
c.1333G>C (p.Gly445Arg)
c.230-1373G>C (n.230-1373G>C)
c.*1421G>C (n.*1421G>C)
c.898G>C (p.Gly300Arg)
c.487G>C (p.Gly163Arg)
c.427G>C (p.Gly143Arg)
c.1111G>C (p.Gly371Arg)
c.1081G>C (p.Gly361Arg)
c.955G>C (p.Gly319Arg)
c.*413G>C (n.*413G>C)
16g.27362730G=CA2215169688IL4Rc.1378G= (p.Gly460=)
c.1333G= (p.Gly445=)
c.230-1373G= (n.230-1373G=)
c.*1421G= (n.*1421G=)
c.898G= (p.Gly300=)
c.487G= (p.Gly163=)
c.427G= (p.Gly143=)
c.1111G= (p.Gly371=)
c.1081G= (p.Gly361=)
c.955G= (p.Gly319=)
c.*413G= (n.*413G=)
16g.27362730G>TCA395298769IL4Rc.1378G>T (p.Gly460Cys)
c.1333G>T (p.Gly445Cys)
c.230-1373G>T (n.230-1373G>T)
c.*1421G>T (n.*1421G>T)
c.898G>T (p.Gly300Cys)
c.487G>T (p.Gly163Cys)
c.427G>T (p.Gly143Cys)
c.1111G>T (p.Gly371Cys)
c.1081G>T (p.Gly361Cys)
c.955G>T (p.Gly319Cys)
c.*413G>T (n.*413G>T)
dbSNP gnomAD v2 gnomAD v4
16g.27362731G>ACA7974550IL4Rc.1379G>A (p.Gly460Asp)
c.1334G>A (p.Gly445Asp)
c.230-1372G>A (n.230-1372G>A)
c.*1422G>A (n.*1422G>A)
c.899G>A (p.Gly300Asp)
c.488G>A (p.Gly163Asp)
c.428G>A (p.Gly143Asp)
c.1112G>A (p.Gly371Asp)
c.1082G>A (p.Gly361Asp)
c.956G>A (p.Gly319Asp)
c.*414G>A (n.*414G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362731G>CCA395298770IL4Rc.1379G>C (p.Gly460Ala)
c.1334G>C (p.Gly445Ala)
c.230-1372G>C (n.230-1372G>C)
c.*1422G>C (n.*1422G>C)
c.899G>C (p.Gly300Ala)
c.488G>C (p.Gly163Ala)
c.428G>C (p.Gly143Ala)
c.1112G>C (p.Gly371Ala)
c.1082G>C (p.Gly361Ala)
c.956G>C (p.Gly319Ala)
c.*414G>C (n.*414G>C)
16g.27362731G=CA2215169692IL4Rc.1379G= (p.Gly460=)
c.1334G= (p.Gly445=)
c.230-1372G= (n.230-1372G=)
c.*1422G= (n.*1422G=)
c.899G= (p.Gly300=)
c.488G= (p.Gly163=)
c.428G= (p.Gly143=)
c.1112G= (p.Gly371=)
c.1082G= (p.Gly361=)
c.956G= (p.Gly319=)
c.*414G= (n.*414G=)
16g.27362731G>TCA7974551IL4Rc.1379G>T (p.Gly460Val)
c.1334G>T (p.Gly445Val)
c.230-1372G>T (n.230-1372G>T)
c.*1422G>T (n.*1422G>T)
c.899G>T (p.Gly300Val)
c.488G>T (p.Gly163Val)
c.428G>T (p.Gly143Val)
c.1112G>T (p.Gly371Val)
c.1082G>T (p.Gly361Val)
c.956G>T (p.Gly319Val)
c.*414G>T (n.*414G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362732C>ACA494470575IL4Rc.1380C>A (p.Gly460=)
c.1335C>A (p.Gly445=)
c.230-1371C>A (n.230-1371C>A)
c.*1423C>A (n.*1423C>A)
c.900C>A (p.Gly300=)
c.489C>A (p.Gly163=)
c.429C>A (p.Gly143=)
c.1113C>A (p.Gly371=)
c.1083C>A (p.Gly361=)
c.957C>A (p.Gly319=)
c.*415C>A (n.*415C>A)
16g.27362732C=CA2215169696IL4Rc.1380C= (p.Gly460=)
c.1335C= (p.Gly445=)
c.230-1371C= (n.230-1371C=)
c.*1423C= (n.*1423C=)
c.900C= (p.Gly300=)
c.489C= (p.Gly163=)
c.429C= (p.Gly143=)
c.1113C= (p.Gly371=)
c.1083C= (p.Gly361=)
c.957C= (p.Gly319=)
c.*415C= (n.*415C=)
16g.27362732C>GCA494470576IL4Rc.1380C>G (p.Gly460=)
c.1335C>G (p.Gly445=)
c.230-1371C>G (n.230-1371C>G)
c.*1423C>G (n.*1423C>G)
c.900C>G (p.Gly300=)
c.489C>G (p.Gly163=)
c.429C>G (p.Gly143=)
c.1113C>G (p.Gly371=)
c.1083C>G (p.Gly361=)
c.957C>G (p.Gly319=)
c.*415C>G (n.*415C>G)
16g.27362732C>TCA7974552IL4Rc.1380C>T (p.Gly460=)
c.1335C>T (p.Gly445=)
c.230-1371C>T (n.230-1371C>T)
c.*1423C>T (n.*1423C>T)
c.900C>T (p.Gly300=)
c.489C>T (p.Gly163=)
c.429C>T (p.Gly143=)
c.1113C>T (p.Gly371=)
c.1083C>T (p.Gly361=)
c.957C>T (p.Gly319=)
c.*415C>T (n.*415C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362733A>CCA395298771IL4Rc.1381A>C (p.Lys461Gln)
c.1336A>C (p.Lys446Gln)
c.230-1370A>C (n.230-1370A>C)
c.*1424A>C (n.*1424A>C)
c.901A>C (p.Lys301Gln)
c.490A>C (p.Lys164Gln)
c.430A>C (p.Lys144Gln)
c.1114A>C (p.Lys372Gln)
c.1084A>C (p.Lys362Gln)
c.958A>C (p.Lys320Gln)
c.*416A>C (n.*416A>C)
16g.27362733A>GCA395298772IL4Rc.1381A>G (p.Lys461Glu)
c.1336A>G (p.Lys446Glu)
c.230-1370A>G (n.230-1370A>G)
c.*1424A>G (n.*1424A>G)
c.901A>G (p.Lys301Glu)
c.490A>G (p.Lys164Glu)
c.430A>G (p.Lys144Glu)
c.1114A>G (p.Lys372Glu)
c.1084A>G (p.Lys362Glu)
c.958A>G (p.Lys320Glu)
c.*416A>G (n.*416A>G)
16g.27362733A>TCA395298773IL4Rc.1381A>T (p.Lys461Ter)
c.1336A>T (p.Lys446Ter)
c.230-1370A>T (n.230-1370A>T)
c.*1424A>T (n.*1424A>T)
c.901A>T (p.Lys301Ter)
c.490A>T (p.Lys164Ter)
c.430A>T (p.Lys144Ter)
c.1114A>T (p.Lys372Ter)
c.1084A>T (p.Lys362Ter)
c.958A>T (p.Lys320Ter)
c.*416A>T (n.*416A>T)
16g.27362734A>CCA395298776IL4Rc.1382A>C (p.Lys461Thr)
c.1337A>C (p.Lys446Thr)
c.230-1369A>C (n.230-1369A>C)
c.*1425A>C (n.*1425A>C)
c.902A>C (p.Lys301Thr)
c.491A>C (p.Lys164Thr)
c.431A>C (p.Lys144Thr)
c.1115A>C (p.Lys372Thr)
c.1085A>C (p.Lys362Thr)
c.959A>C (p.Lys320Thr)
c.*417A>C (n.*417A>C)
16g.27362734A>GCA395298775IL4Rc.1382A>G (p.Lys461Arg)
c.1337A>G (p.Lys446Arg)
c.230-1369A>G (n.230-1369A>G)
c.*1425A>G (n.*1425A>G)
c.902A>G (p.Lys301Arg)
c.491A>G (p.Lys164Arg)
c.431A>G (p.Lys144Arg)
c.1115A>G (p.Lys372Arg)
c.1085A>G (p.Lys362Arg)
c.959A>G (p.Lys320Arg)
c.*417A>G (n.*417A>G)
16g.27362734A>TCA395298774IL4Rc.1382A>T (p.Lys461Met)
c.1337A>T (p.Lys446Met)
c.230-1369A>T (n.230-1369A>T)
c.*1425A>T (n.*1425A>T)
c.902A>T (p.Lys301Met)
c.491A>T (p.Lys164Met)
c.431A>T (p.Lys144Met)
c.1115A>T (p.Lys372Met)
c.1085A>T (p.Lys362Met)
c.959A>T (p.Lys320Met)
c.*417A>T (n.*417A>T)
16g.27362735G>ACA494470583IL4Rc.1383G>A (p.Lys461=)
c.1338G>A (p.Lys446=)
c.230-1368G>A (n.230-1368G>A)
c.*1426G>A (n.*1426G>A)
c.903G>A (p.Lys301=)
c.492G>A (p.Lys164=)
c.432G>A (p.Lys144=)
c.1116G>A (p.Lys372=)
c.1086G>A (p.Lys362=)
c.960G>A (p.Lys320=)
c.*418G>A (n.*418G>A)
16g.27362735G>CCA395298777IL4Rc.1383G>C (p.Lys461Asn)
c.1338G>C (p.Lys446Asn)
c.230-1368G>C (n.230-1368G>C)
c.*1426G>C (n.*1426G>C)
c.903G>C (p.Lys301Asn)
c.492G>C (p.Lys164Asn)
c.432G>C (p.Lys144Asn)
c.1116G>C (p.Lys372Asn)
c.1086G>C (p.Lys362Asn)
c.960G>C (p.Lys320Asn)
c.*418G>C (n.*418G>C)
16g.27362735G>TCA395298778IL4Rc.1383G>T (p.Lys461Asn)
c.1338G>T (p.Lys446Asn)
c.230-1368G>T (n.230-1368G>T)
c.*1426G>T (n.*1426G>T)
c.903G>T (p.Lys301Asn)
c.492G>T (p.Lys164Asn)
c.432G>T (p.Lys144Asn)
c.1116G>T (p.Lys372Asn)
c.1086G>T (p.Lys362Asn)
c.960G>T (p.Lys320Asn)
c.*418G>T (n.*418G>T)
16g.27362736G>ACA395298779IL4Rc.1384G>A (p.Glu462Lys)
c.1339G>A (p.Glu447Lys)
c.230-1367G>A (n.230-1367G>A)
c.*1427G>A (n.*1427G>A)
c.904G>A (p.Glu302Lys)
c.493G>A (p.Glu165Lys)
c.433G>A (p.Glu145Lys)
c.1117G>A (p.Glu373Lys)
c.1087G>A (p.Glu363Lys)
c.961G>A (p.Glu321Lys)
c.*419G>A (n.*419G>A)
dbSNP gnomAD v2 gnomAD v4
16g.27362736G>CCA395298780IL4Rc.1384G>C (p.Glu462Gln)
c.1339G>C (p.Glu447Gln)
c.230-1367G>C (n.230-1367G>C)
c.*1427G>C (n.*1427G>C)
c.904G>C (p.Glu302Gln)
c.493G>C (p.Glu165Gln)
c.433G>C (p.Glu145Gln)
c.1117G>C (p.Glu373Gln)
c.1087G>C (p.Glu363Gln)
c.961G>C (p.Glu321Gln)
c.*419G>C (n.*419G>C)
16g.27362736G=CA2215169702IL4Rc.1384G= (p.Glu462=)
c.1339G= (p.Glu447=)
c.230-1367G= (n.230-1367G=)
c.*1427G= (n.*1427G=)
c.904G= (p.Glu302=)
c.493G= (p.Glu165=)
c.433G= (p.Glu145=)
c.1117G= (p.Glu373=)
c.1087G= (p.Glu363=)
c.961G= (p.Glu321=)
c.*419G= (n.*419G=)
16g.27362736G>TCA395298781IL4Rc.1384G>T (p.Glu462Ter)
c.1339G>T (p.Glu447Ter)
c.230-1367G>T (n.230-1367G>T)
c.*1427G>T (n.*1427G>T)
c.904G>T (p.Glu302Ter)
c.493G>T (p.Glu165Ter)
c.433G>T (p.Glu145Ter)
c.1117G>T (p.Glu373Ter)
c.1087G>T (p.Glu363Ter)
c.961G>T (p.Glu321Ter)
c.*419G>T (n.*419G>T)
16g.27362737A>CCA395298782IL4Rc.1385A>C (p.Glu462Ala)
c.1340A>C (p.Glu447Ala)
c.230-1366A>C (n.230-1366A>C)
c.*1428A>C (n.*1428A>C)
c.905A>C (p.Glu302Ala)
c.494A>C (p.Glu165Ala)
c.434A>C (p.Glu145Ala)
c.1118A>C (p.Glu373Ala)
c.1088A>C (p.Glu363Ala)
c.962A>C (p.Glu321Ala)
c.*420A>C (n.*420A>C)
16g.27362737A>GCA395298783IL4Rc.1385A>G (p.Glu462Gly)
c.1340A>G (p.Glu447Gly)
c.230-1366A>G (n.230-1366A>G)
c.*1428A>G (n.*1428A>G)
c.905A>G (p.Glu302Gly)
c.494A>G (p.Glu165Gly)
c.434A>G (p.Glu145Gly)
c.1118A>G (p.Glu373Gly)
c.1088A>G (p.Glu363Gly)
c.962A>G (p.Glu321Gly)
c.*420A>G (n.*420A>G)
16g.27362737A>TCA395298784IL4Rc.1385A>T (p.Glu462Val)
c.1340A>T (p.Glu447Val)
c.230-1366A>T (n.230-1366A>T)
c.*1428A>T (n.*1428A>T)
c.905A>T (p.Glu302Val)
c.494A>T (p.Glu165Val)
c.434A>T (p.Glu145Val)
c.1118A>T (p.Glu373Val)
c.1088A>T (p.Glu363Val)
c.962A>T (p.Glu321Val)
c.*420A>T (n.*420A>T)
16g.27362738G>ACA494470586IL4Rc.1386G>A (p.Glu462=)
c.1341G>A (p.Glu447=)
c.230-1365G>A (n.230-1365G>A)
c.*1429G>A (n.*1429G>A)
c.906G>A (p.Glu302=)
c.495G>A (p.Glu165=)
c.435G>A (p.Glu145=)
c.1119G>A (p.Glu373=)
c.1089G>A (p.Glu363=)
c.963G>A (p.Glu321=)
c.*421G>A (n.*421G>A)
gnomAD v4
16g.27362738G>CCA395298785IL4Rc.1386G>C (p.Glu462Asp)
c.1341G>C (p.Glu447Asp)
c.230-1365G>C (n.230-1365G>C)
c.*1429G>C (n.*1429G>C)
c.906G>C (p.Glu302Asp)
c.495G>C (p.Glu165Asp)
c.435G>C (p.Glu145Asp)
c.1119G>C (p.Glu373Asp)
c.1089G>C (p.Glu363Asp)
c.963G>C (p.Glu321Asp)
c.*421G>C (n.*421G>C)
dbSNP gnomAD v2 gnomAD v4
16g.27362738G=CA2215169708IL4Rc.1386G= (p.Glu462=)
c.1341G= (p.Glu447=)
c.230-1365G= (n.230-1365G=)
c.*1429G= (n.*1429G=)
c.906G= (p.Glu302=)
c.495G= (p.Glu165=)
c.435G= (p.Glu145=)
c.1119G= (p.Glu373=)
c.1089G= (p.Glu363=)
c.963G= (p.Glu321=)
c.*421G= (n.*421G=)
16g.27362738G>TCA395298786IL4Rc.1386G>T (p.Glu462Asp)
c.1341G>T (p.Glu447Asp)
c.230-1365G>T (n.230-1365G>T)
c.*1429G>T (n.*1429G>T)
c.906G>T (p.Glu302Asp)
c.495G>T (p.Glu165Asp)
c.435G>T (p.Glu145Asp)
c.1119G>T (p.Glu373Asp)
c.1089G>T (p.Glu363Asp)
c.963G>T (p.Glu321Asp)
c.*421G>T (n.*421G>T)
16g.27362739C>ACA395298787IL4Rc.1387C>A (p.Gln463Lys)
c.1342C>A (p.Gln448Lys)
c.230-1364C>A (n.230-1364C>A)
c.*1430C>A (n.*1430C>A)
c.907C>A (p.Gln303Lys)
c.496C>A (p.Gln166Lys)
c.436C>A (p.Gln146Lys)
c.1120C>A (p.Gln374Lys)
c.1090C>A (p.Gln364Lys)
c.964C>A (p.Gln322Lys)
c.*422C>A (n.*422C>A)
16g.27362739C=CA2215169710IL4Rc.1387C= (p.Gln463=)
c.1342C= (p.Gln448=)
c.230-1364C= (n.230-1364C=)
c.*1430C= (n.*1430C=)
c.907C= (p.Gln303=)
c.496C= (p.Gln166=)
c.436C= (p.Gln146=)
c.1120C= (p.Gln374=)
c.1090C= (p.Gln364=)
c.964C= (p.Gln322=)
c.*422C= (n.*422C=)
16g.27362739C>GCA395298788IL4Rc.1387C>G (p.Gln463Glu)
c.1342C>G (p.Gln448Glu)
c.230-1364C>G (n.230-1364C>G)
c.*1430C>G (n.*1430C>G)
c.907C>G (p.Gln303Glu)
c.496C>G (p.Gln166Glu)
c.436C>G (p.Gln146Glu)
c.1120C>G (p.Gln374Glu)
c.1090C>G (p.Gln364Glu)
c.964C>G (p.Gln322Glu)
c.*422C>G (n.*422C>G)
16g.27362739C>TCA395298789IL4Rc.1387C>T (p.Gln463Ter)
c.1342C>T (p.Gln448Ter)
c.230-1364C>T (n.230-1364C>T)
c.*1430C>T (n.*1430C>T)
c.907C>T (p.Gln303Ter)
c.496C>T (p.Gln166Ter)
c.436C>T (p.Gln146Ter)
c.1120C>T (p.Gln374Ter)
c.1090C>T (p.Gln364Ter)
c.964C>T (p.Gln322Ter)
c.*422C>T (n.*422C>T)
dbSNP gnomAD v2
16g.27362740A=CA2215169713IL4Rc.1388A= (p.Gln463=)
c.1343A= (p.Gln448=)
c.230-1363A= (n.230-1363A=)
c.*1431A= (n.*1431A=)
c.908A= (p.Gln303=)
c.497A= (p.Gln166=)
c.437A= (p.Gln146=)
c.1121A= (p.Gln374=)
c.1091A= (p.Gln364=)
c.965A= (p.Gln322=)
c.*423A= (n.*423A=)
16g.27362740A>CCA395298791IL4Rc.1388A>C (p.Gln463Pro)
c.1343A>C (p.Gln448Pro)
c.230-1363A>C (n.230-1363A>C)
c.*1431A>C (n.*1431A>C)
c.908A>C (p.Gln303Pro)
c.497A>C (p.Gln166Pro)
c.437A>C (p.Gln146Pro)
c.1121A>C (p.Gln374Pro)
c.1091A>C (p.Gln364Pro)
c.965A>C (p.Gln322Pro)
c.*423A>C (n.*423A>C)
16g.27362740A>GCA395298792IL4Rc.1388A>G (p.Gln463Arg)
c.1343A>G (p.Gln448Arg)
c.230-1363A>G (n.230-1363A>G)
c.*1431A>G (n.*1431A>G)
c.908A>G (p.Gln303Arg)
c.497A>G (p.Gln166Arg)
c.437A>G (p.Gln146Arg)
c.1121A>G (p.Gln374Arg)
c.1091A>G (p.Gln364Arg)
c.965A>G (p.Gln322Arg)
c.*423A>G (n.*423A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362740A>TCA395298790IL4Rc.1388A>T (p.Gln463Leu)
c.1343A>T (p.Gln448Leu)
c.230-1363A>T (n.230-1363A>T)
c.*1431A>T (n.*1431A>T)
c.908A>T (p.Gln303Leu)
c.497A>T (p.Gln166Leu)
c.437A>T (p.Gln146Leu)
c.1121A>T (p.Gln374Leu)
c.1091A>T (p.Gln364Leu)
c.965A>T (p.Gln322Leu)
c.*423A>T (n.*423A>T)
16g.27362741G>ACA494470590IL4Rc.1389G>A (p.Gln463=)
c.1344G>A (p.Gln448=)
c.230-1362G>A (n.230-1362G>A)
c.*1432G>A (n.*1432G>A)
c.909G>A (p.Gln303=)
c.498G>A (p.Gln166=)
c.438G>A (p.Gln146=)
c.1122G>A (p.Gln374=)
c.1092G>A (p.Gln364=)
c.966G>A (p.Gln322=)
c.*424G>A (n.*424G>A)
gnomAD v4
16g.27362741G>CCA395298794IL4Rc.1389G>C (p.Gln463His)
c.1344G>C (p.Gln448His)
c.230-1362G>C (n.230-1362G>C)
c.*1432G>C (n.*1432G>C)
c.909G>C (p.Gln303His)
c.498G>C (p.Gln166His)
c.438G>C (p.Gln146His)
c.1122G>C (p.Gln374His)
c.1092G>C (p.Gln364His)
c.966G>C (p.Gln322His)
c.*424G>C (n.*424G>C)
16g.27362741G>TCA395298793IL4Rc.1389G>T (p.Gln463His)
c.1344G>T (p.Gln448His)
c.230-1362G>T (n.230-1362G>T)
c.*1432G>T (n.*1432G>T)
c.909G>T (p.Gln303His)
c.498G>T (p.Gln166His)
c.438G>T (p.Gln146His)
c.1122G>T (p.Gln374His)
c.1092G>T (p.Gln364His)
c.966G>T (p.Gln322His)
c.*424G>T (n.*424G>T)
16g.27362742C>ACA395298796IL4Rc.1390C>A (p.Pro464Thr)
c.1345C>A (p.Pro449Thr)
c.230-1361C>A (n.230-1361C>A)
c.*1433C>A (n.*1433C>A)
c.910C>A (p.Pro304Thr)
c.499C>A (p.Pro167Thr)
c.439C>A (p.Pro147Thr)
c.1123C>A (p.Pro375Thr)
c.1093C>A (p.Pro365Thr)
c.967C>A (p.Pro323Thr)
c.*425C>A (n.*425C>A)
16g.27362742C>GCA395298795IL4Rc.1390C>G (p.Pro464Ala)
c.1345C>G (p.Pro449Ala)
c.230-1361C>G (n.230-1361C>G)
c.*1433C>G (n.*1433C>G)
c.910C>G (p.Pro304Ala)
c.499C>G (p.Pro167Ala)
c.439C>G (p.Pro147Ala)
c.1123C>G (p.Pro375Ala)
c.1093C>G (p.Pro365Ala)
c.967C>G (p.Pro323Ala)
c.*425C>G (n.*425C>G)
16g.27362742C>TCA395298797IL4Rc.1390C>T (p.Pro464Ser)
c.1345C>T (p.Pro449Ser)
c.230-1361C>T (n.230-1361C>T)
c.*1433C>T (n.*1433C>T)
c.910C>T (p.Pro304Ser)
c.499C>T (p.Pro167Ser)
c.439C>T (p.Pro147Ser)
c.1123C>T (p.Pro375Ser)
c.1093C>T (p.Pro365Ser)
c.967C>T (p.Pro323Ser)
c.*425C>T (n.*425C>T)
gnomAD v4
16g.27362743C>ACA395298798IL4Rc.1391C>A (p.Pro464His)
c.1346C>A (p.Pro449His)
c.230-1360C>A (n.230-1360C>A)
c.*1434C>A (n.*1434C>A)
c.911C>A (p.Pro304His)
c.500C>A (p.Pro167His)
c.440C>A (p.Pro147His)
c.1124C>A (p.Pro375His)
c.1094C>A (p.Pro365His)
c.968C>A (p.Pro323His)
c.*426C>A (n.*426C>A)
COSMIC
16g.27362743C>GCA395298800IL4Rc.1391C>G (p.Pro464Arg)
c.1346C>G (p.Pro449Arg)
c.230-1360C>G (n.230-1360C>G)
c.*1434C>G (n.*1434C>G)
c.911C>G (p.Pro304Arg)
c.500C>G (p.Pro167Arg)
c.440C>G (p.Pro147Arg)
c.1124C>G (p.Pro375Arg)
c.1094C>G (p.Pro365Arg)
c.968C>G (p.Pro323Arg)
c.*426C>G (n.*426C>G)
16g.27362743C>TCA395298799IL4Rc.1391C>T (p.Pro464Leu)
c.1346C>T (p.Pro449Leu)
c.230-1360C>T (n.230-1360C>T)
c.*1434C>T (n.*1434C>T)
c.911C>T (p.Pro304Leu)
c.500C>T (p.Pro167Leu)
c.440C>T (p.Pro147Leu)
c.1124C>T (p.Pro375Leu)
c.1094C>T (p.Pro365Leu)
c.968C>T (p.Pro323Leu)
c.*426C>T (n.*426C>T)
gnomAD v4
16g.27362744T>ACA494470594IL4Rc.1392T>A (p.Pro464=)
c.1347T>A (p.Pro449=)
c.230-1359T>A (n.230-1359T>A)
c.*1435T>A (n.*1435T>A)
c.912T>A (p.Pro304=)
c.501T>A (p.Pro167=)
c.441T>A (p.Pro147=)
c.1125T>A (p.Pro375=)
c.1095T>A (p.Pro365=)
c.969T>A (p.Pro323=)
c.*427T>A (n.*427T>A)
16g.27362744T>CCA494470595IL4Rc.1392T>C (p.Pro464=)
c.1347T>C (p.Pro449=)
c.230-1359T>C (n.230-1359T>C)
c.*1435T>C (n.*1435T>C)
c.912T>C (p.Pro304=)
c.501T>C (p.Pro167=)
c.441T>C (p.Pro147=)
c.1125T>C (p.Pro375=)
c.1095T>C (p.Pro365=)
c.969T>C (p.Pro323=)
c.*427T>C (n.*427T>C)
16g.27362744T>GCA494470596IL4Rc.1392T>G (p.Pro464=)
c.1347T>G (p.Pro449=)
c.230-1359T>G (n.230-1359T>G)
c.*1435T>G (n.*1435T>G)
c.912T>G (p.Pro304=)
c.501T>G (p.Pro167=)
c.441T>G (p.Pro147=)
c.1125T>G (p.Pro375=)
c.1095T>G (p.Pro365=)
c.969T>G (p.Pro323=)
c.*427T>G (n.*427T>G)
16g.27362745C>ACA395298801IL4Rc.1393C>A (p.Leu465Ile)
c.1348C>A (p.Leu450Ile)
c.230-1358C>A (n.230-1358C>A)
c.*1436C>A (n.*1436C>A)
c.913C>A (p.Leu305Ile)
c.502C>A (p.Leu168Ile)
c.442C>A (p.Leu148Ile)
c.1126C>A (p.Leu376Ile)
c.1096C>A (p.Leu366Ile)
c.970C>A (p.Leu324Ile)
c.*428C>A (n.*428C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362745C=CA2215169714IL4Rc.1393C= (p.Leu465=)
c.1348C= (p.Leu450=)
c.230-1358C= (n.230-1358C=)
c.*1436C= (n.*1436C=)
c.913C= (p.Leu305=)
c.502C= (p.Leu168=)
c.442C= (p.Leu148=)
c.1126C= (p.Leu376=)
c.1096C= (p.Leu366=)
c.970C= (p.Leu324=)
c.*428C= (n.*428C=)
16g.27362745C>GCA395298802IL4Rc.1393C>G (p.Leu465Val)
c.1348C>G (p.Leu450Val)
c.230-1358C>G (n.230-1358C>G)
c.*1436C>G (n.*1436C>G)
c.913C>G (p.Leu305Val)
c.502C>G (p.Leu168Val)
c.442C>G (p.Leu148Val)
c.1126C>G (p.Leu376Val)
c.1096C>G (p.Leu366Val)
c.970C>G (p.Leu324Val)
c.*428C>G (n.*428C>G)
gnomAD v4
16g.27362745C>TCA395298803IL4Rc.1393C>T (p.Leu465Phe)
c.1348C>T (p.Leu450Phe)
c.230-1358C>T (n.230-1358C>T)
c.*1436C>T (n.*1436C>T)
c.913C>T (p.Leu305Phe)
c.502C>T (p.Leu168Phe)
c.442C>T (p.Leu148Phe)
c.1126C>T (p.Leu376Phe)
c.1096C>T (p.Leu366Phe)
c.970C>T (p.Leu324Phe)
c.*428C>T (n.*428C>T)
dbSNP gnomAD v4
16g.27362746T>ACA395298804IL4Rc.1394T>A (p.Leu465His)
c.1349T>A (p.Leu450His)
c.230-1357T>A (n.230-1357T>A)
c.*1437T>A (n.*1437T>A)
c.914T>A (p.Leu305His)
c.503T>A (p.Leu168His)
c.443T>A (p.Leu148His)
c.1127T>A (p.Leu376His)
c.1097T>A (p.Leu366His)
c.971T>A (p.Leu324His)
c.*429T>A (n.*429T>A)
16g.27362746T>CCA395298805IL4Rc.1394T>C (p.Leu465Pro)
c.1349T>C (p.Leu450Pro)
c.230-1357T>C (n.230-1357T>C)
c.*1437T>C (n.*1437T>C)
c.914T>C (p.Leu305Pro)
c.503T>C (p.Leu168Pro)
c.443T>C (p.Leu148Pro)
c.1127T>C (p.Leu376Pro)
c.1097T>C (p.Leu366Pro)
c.971T>C (p.Leu324Pro)
c.*429T>C (n.*429T>C)
16g.27362746T>GCA395298806IL4Rc.1394T>G (p.Leu465Arg)
c.1349T>G (p.Leu450Arg)
c.230-1357T>G (n.230-1357T>G)
c.*1437T>G (n.*1437T>G)
c.914T>G (p.Leu305Arg)
c.503T>G (p.Leu168Arg)
c.443T>G (p.Leu148Arg)
c.1127T>G (p.Leu376Arg)
c.1097T>G (p.Leu366Arg)
c.971T>G (p.Leu324Arg)
c.*429T>G (n.*429T>G)
16g.27362747C>ACA494470602IL4Rc.1395C>A (p.Leu465=)
c.1350C>A (p.Leu450=)
c.230-1356C>A (n.230-1356C>A)
c.*1438C>A (n.*1438C>A)
c.915C>A (p.Leu305=)
c.504C>A (p.Leu168=)
c.444C>A (p.Leu148=)
c.1128C>A (p.Leu376=)
c.1098C>A (p.Leu366=)
c.972C>A (p.Leu324=)
c.*430C>A (n.*430C>A)
16g.27362747C>GCA494470601IL4Rc.1395C>G (p.Leu465=)
c.1350C>G (p.Leu450=)
c.230-1356C>G (n.230-1356C>G)
c.*1438C>G (n.*1438C>G)
c.915C>G (p.Leu305=)
c.504C>G (p.Leu168=)
c.444C>G (p.Leu148=)
c.1128C>G (p.Leu376=)
c.1098C>G (p.Leu366=)
c.972C>G (p.Leu324=)
c.*430C>G (n.*430C>G)
gnomAD v4
16g.27362747C>TCA494470600IL4Rc.1395C>T (p.Leu465=)
c.1350C>T (p.Leu450=)
c.230-1356C>T (n.230-1356C>T)
c.*1438C>T (n.*1438C>T)
c.915C>T (p.Leu305=)
c.504C>T (p.Leu168=)
c.444C>T (p.Leu148=)
c.1128C>T (p.Leu376=)
c.1098C>T (p.Leu366=)
c.972C>T (p.Leu324=)
c.*430C>T (n.*430C>T)
16g.27362748C>ACA395298807IL4Rc.1396C>A (p.His466Asn)
c.1351C>A (p.His451Asn)
c.230-1355C>A (n.230-1355C>A)
c.*1439C>A (n.*1439C>A)
c.916C>A (p.His306Asn)
c.505C>A (p.His169Asn)
c.445C>A (p.His149Asn)
c.1129C>A (p.His377Asn)
c.1099C>A (p.His367Asn)
c.973C>A (p.His325Asn)
c.*431C>A (n.*431C>A)
16g.27362748C=CA2215169721IL4Rc.1396C= (p.His466=)
c.1351C= (p.His451=)
c.230-1355C= (n.230-1355C=)
c.*1439C= (n.*1439C=)
c.916C= (p.His306=)
c.505C= (p.His169=)
c.445C= (p.His149=)
c.1129C= (p.His377=)
c.1099C= (p.His367=)
c.973C= (p.His325=)
c.*431C= (n.*431C=)
16g.27362748C>GCA395298808IL4Rc.1396C>G (p.His466Asp)
c.1351C>G (p.His451Asp)
c.230-1355C>G (n.230-1355C>G)
c.*1439C>G (n.*1439C>G)
c.916C>G (p.His306Asp)
c.505C>G (p.His169Asp)
c.445C>G (p.His149Asp)
c.1129C>G (p.His377Asp)
c.1099C>G (p.His367Asp)
c.973C>G (p.His325Asp)
c.*431C>G (n.*431C>G)
16g.27362748C>TCA7974553IL4Rc.1396C>T (p.His466Tyr)
c.1351C>T (p.His451Tyr)
c.230-1355C>T (n.230-1355C>T)
c.*1439C>T (n.*1439C>T)
c.916C>T (p.His306Tyr)
c.505C>T (p.His169Tyr)
c.445C>T (p.His149Tyr)
c.1129C>T (p.His377Tyr)
c.1099C>T (p.His367Tyr)
c.973C>T (p.His325Tyr)
c.*431C>T (n.*431C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362749A>CCA395298809IL4Rc.1397A>C (p.His466Pro)
c.1352A>C (p.His451Pro)
c.230-1354A>C (n.230-1354A>C)
c.*1440A>C (n.*1440A>C)
c.917A>C (p.His306Pro)
c.506A>C (p.His169Pro)
c.446A>C (p.His149Pro)
c.1130A>C (p.His377Pro)
c.1100A>C (p.His367Pro)
c.974A>C (p.His325Pro)
c.*432A>C (n.*432A>C)
16g.27362749A>GCA395298810IL4Rc.1397A>G (p.His466Arg)
c.1352A>G (p.His451Arg)
c.230-1354A>G (n.230-1354A>G)
c.*1440A>G (n.*1440A>G)
c.917A>G (p.His306Arg)
c.506A>G (p.His169Arg)
c.446A>G (p.His149Arg)
c.1130A>G (p.His377Arg)
c.1100A>G (p.His367Arg)
c.974A>G (p.His325Arg)
c.*432A>G (n.*432A>G)
16g.27362749A>TCA395298811IL4Rc.1397A>T (p.His466Leu)
c.1352A>T (p.His451Leu)
c.230-1354A>T (n.230-1354A>T)
c.*1440A>T (n.*1440A>T)
c.917A>T (p.His306Leu)
c.506A>T (p.His169Leu)
c.446A>T (p.His149Leu)
c.1130A>T (p.His377Leu)
c.1100A>T (p.His367Leu)
c.974A>T (p.His325Leu)
c.*432A>T (n.*432A>T)
16g.27362750C>ACA395298812IL4Rc.1398C>A (p.His466Gln)
c.1353C>A (p.His451Gln)
c.230-1353C>A (n.230-1353C>A)
c.*1441C>A (n.*1441C>A)
c.918C>A (p.His306Gln)
c.507C>A (p.His169Gln)
c.447C>A (p.His149Gln)
c.1131C>A (p.His377Gln)
c.1101C>A (p.His367Gln)
c.975C>A (p.His325Gln)
c.*433C>A (n.*433C>A)
16g.27362750C=CA2215169722IL4Rc.1398C= (p.His466=)
c.1353C= (p.His451=)
c.230-1353C= (n.230-1353C=)
c.*1441C= (n.*1441C=)
c.918C= (p.His306=)
c.507C= (p.His169=)
c.447C= (p.His149=)
c.1131C= (p.His377=)
c.1101C= (p.His367=)
c.975C= (p.His325=)
c.*433C= (n.*433C=)
16g.27362750C>GCA395298813IL4Rc.1398C>G (p.His466Gln)
c.1353C>G (p.His451Gln)
c.230-1353C>G (n.230-1353C>G)
c.*1441C>G (n.*1441C>G)
c.918C>G (p.His306Gln)
c.507C>G (p.His169Gln)
c.447C>G (p.His149Gln)
c.1131C>G (p.His377Gln)
c.1101C>G (p.His367Gln)
c.975C>G (p.His325Gln)
c.*433C>G (n.*433C>G)
16g.27362750C>TCA494470604IL4Rc.1398C>T (p.His466=)
c.1353C>T (p.His451=)
c.230-1353C>T (n.230-1353C>T)
c.*1441C>T (n.*1441C>T)
c.918C>T (p.His306=)
c.507C>T (p.His169=)
c.447C>T (p.His149=)
c.1131C>T (p.His377=)
c.1101C>T (p.His367=)
c.975C>T (p.His325=)
c.*433C>T (n.*433C>T)
dbSNP
16g.27362751C>ACA395298814IL4Rc.1399C>A (p.Leu467Met)
c.1354C>A (p.Leu452Met)
c.230-1352C>A (n.230-1352C>A)
c.*1442C>A (n.*1442C>A)
c.919C>A (p.Leu307Met)
c.508C>A (p.Leu170Met)
c.448C>A (p.Leu150Met)
c.1132C>A (p.Leu378Met)
c.1102C>A (p.Leu368Met)
c.976C>A (p.Leu326Met)
c.*434C>A (n.*434C>A)
16g.27362751C=CA2215169723IL4Rc.1399C= (p.Leu467=)
c.1354C= (p.Leu452=)
c.230-1352C= (n.230-1352C=)
c.*1442C= (n.*1442C=)
c.919C= (p.Leu307=)
c.508C= (p.Leu170=)
c.448C= (p.Leu150=)
c.1132C= (p.Leu378=)
c.1102C= (p.Leu368=)
c.976C= (p.Leu326=)
c.*434C= (n.*434C=)
16g.27362751C>GCA395298815IL4Rc.1399C>G (p.Leu467Val)
c.1354C>G (p.Leu452Val)
c.230-1352C>G (n.230-1352C>G)
c.*1442C>G (n.*1442C>G)
c.919C>G (p.Leu307Val)
c.508C>G (p.Leu170Val)
c.448C>G (p.Leu150Val)
c.1132C>G (p.Leu378Val)
c.1102C>G (p.Leu368Val)
c.976C>G (p.Leu326Val)
c.*434C>G (n.*434C>G)
16g.27362751C>TCA494470606IL4Rc.1399C>T (p.Leu467=)
c.1354C>T (p.Leu452=)
c.230-1352C>T (n.230-1352C>T)
c.*1442C>T (n.*1442C>T)
c.919C>T (p.Leu307=)
c.508C>T (p.Leu170=)
c.448C>T (p.Leu150=)
c.1132C>T (p.Leu378=)
c.1102C>T (p.Leu368=)
c.976C>T (p.Leu326=)
c.*434C>T (n.*434C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched