Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.27362574G>ACA395297988IL4Rc.1222G>A (p.Glu408Lys)
c.1177G>A (p.Glu393Lys)
c.230-1529G>A (n.230-1529G>A)
c.*1265G>A (n.*1265G>A)
c.742G>A (p.Glu248Lys)
c.331G>A (p.Glu111Lys)
c.271G>A (p.Glu91Lys)
c.955G>A (p.Glu319Lys)
c.925G>A (p.Glu309Lys)
c.799G>A (p.Glu267Lys)
c.*257G>A (n.*257G>A)
gnomAD v4 COSMIC COSMIC
16g.27362574G>CCA395297986IL4Rc.1222G>C (p.Glu408Gln)
c.1177G>C (p.Glu393Gln)
c.230-1529G>C (n.230-1529G>C)
c.*1265G>C (n.*1265G>C)
c.742G>C (p.Glu248Gln)
c.331G>C (p.Glu111Gln)
c.271G>C (p.Glu91Gln)
c.955G>C (p.Glu319Gln)
c.925G>C (p.Glu309Gln)
c.799G>C (p.Glu267Gln)
c.*257G>C (n.*257G>C)
16g.27362574G>TCA395297987IL4Rc.1222G>T (p.Glu408Ter)
c.1177G>T (p.Glu393Ter)
c.230-1529G>T (n.230-1529G>T)
c.*1265G>T (n.*1265G>T)
c.742G>T (p.Glu248Ter)
c.331G>T (p.Glu111Ter)
c.271G>T (p.Glu91Ter)
c.955G>T (p.Glu319Ter)
c.925G>T (p.Glu309Ter)
c.799G>T (p.Glu267Ter)
c.*257G>T (n.*257G>T)
gnomAD v4
16g.27362575A=CA2215169499IL4Rc.1223A= (p.Glu408=)
c.1178A= (p.Glu393=)
c.230-1528A= (n.230-1528A=)
c.*1266A= (n.*1266A=)
c.743A= (p.Glu248=)
c.332A= (p.Glu111=)
c.272A= (p.Glu91=)
c.956A= (p.Glu319=)
c.926A= (p.Glu309=)
c.800A= (p.Glu267=)
c.*258A= (n.*258A=)
16g.27362575A>CCA395297992IL4Rc.1223A>C (p.Glu408Ala)
c.1178A>C (p.Glu393Ala)
c.230-1528A>C (n.230-1528A>C)
c.*1266A>C (n.*1266A>C)
c.743A>C (p.Glu248Ala)
c.332A>C (p.Glu111Ala)
c.272A>C (p.Glu91Ala)
c.956A>C (p.Glu319Ala)
c.926A>C (p.Glu309Ala)
c.800A>C (p.Glu267Ala)
c.*258A>C (n.*258A>C)
16g.27362575A>GCA395297994IL4Rc.1223A>G (p.Glu408Gly)
c.1178A>G (p.Glu393Gly)
c.230-1528A>G (n.230-1528A>G)
c.*1266A>G (n.*1266A>G)
c.743A>G (p.Glu248Gly)
c.332A>G (p.Glu111Gly)
c.272A>G (p.Glu91Gly)
c.956A>G (p.Glu319Gly)
c.926A>G (p.Glu309Gly)
c.800A>G (p.Glu267Gly)
c.*258A>G (n.*258A>G)
dbSNP
16g.27362575A>TCA395297996IL4Rc.1223A>T (p.Glu408Val)
c.1178A>T (p.Glu393Val)
c.230-1528A>T (n.230-1528A>T)
c.*1266A>T (n.*1266A>T)
c.743A>T (p.Glu248Val)
c.332A>T (p.Glu111Val)
c.272A>T (p.Glu91Val)
c.956A>T (p.Glu319Val)
c.926A>T (p.Glu309Val)
c.800A>T (p.Glu267Val)
c.*258A>T (n.*258A>T)
16g.27362576G>ACA494470379IL4Rc.1224G>A (p.Glu408=)
c.1179G>A (p.Glu393=)
c.230-1527G>A (n.230-1527G>A)
c.*1267G>A (n.*1267G>A)
c.744G>A (p.Glu248=)
c.333G>A (p.Glu111=)
c.273G>A (p.Glu91=)
c.957G>A (p.Glu319=)
c.927G>A (p.Glu309=)
c.801G>A (p.Glu267=)
c.*259G>A (n.*259G>A)
16g.27362576G>CCA7974520IL4Rc.1224G>C (p.Glu408Asp)
c.1179G>C (p.Glu393Asp)
c.230-1527G>C (n.230-1527G>C)
c.*1267G>C (n.*1267G>C)
c.744G>C (p.Glu248Asp)
c.333G>C (p.Glu111Asp)
c.273G>C (p.Glu91Asp)
c.957G>C (p.Glu319Asp)
c.927G>C (p.Glu309Asp)
c.801G>C (p.Glu267Asp)
c.*259G>C (n.*259G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362576G=CA2215169500IL4Rc.1224G= (p.Glu408=)
c.1179G= (p.Glu393=)
c.230-1527G= (n.230-1527G=)
c.*1267G= (n.*1267G=)
c.744G= (p.Glu248=)
c.333G= (p.Glu111=)
c.273G= (p.Glu91=)
c.957G= (p.Glu319=)
c.927G= (p.Glu309=)
c.801G= (p.Glu267=)
c.*259G= (n.*259G=)
16g.27362576G>TCA395298001IL4Rc.1224G>T (p.Glu408Asp)
c.1179G>T (p.Glu393Asp)
c.230-1527G>T (n.230-1527G>T)
c.*1267G>T (n.*1267G>T)
c.744G>T (p.Glu248Asp)
c.333G>T (p.Glu111Asp)
c.273G>T (p.Glu91Asp)
c.957G>T (p.Glu319Asp)
c.927G>T (p.Glu309Asp)
c.801G>T (p.Glu267Asp)
c.*259G>T (n.*259G>T)
16g.27362577A=CA2215169502IL4Rc.1225A= (p.Ser409=)
c.1180A= (p.Ser394=)
c.230-1526A= (n.230-1526A=)
c.*1268A= (n.*1268A=)
c.745A= (p.Ser249=)
c.334A= (p.Ser112=)
c.274A= (p.Ser92=)
c.958A= (p.Ser320=)
c.928A= (p.Ser310=)
c.802A= (p.Ser268=)
c.*260A= (n.*260A=)
16g.27362577A>CCA395298003IL4Rc.1225A>C (p.Ser409Arg)
c.1180A>C (p.Ser394Arg)
c.230-1526A>C (n.230-1526A>C)
c.*1268A>C (n.*1268A>C)
c.745A>C (p.Ser249Arg)
c.334A>C (p.Ser112Arg)
c.274A>C (p.Ser92Arg)
c.958A>C (p.Ser320Arg)
c.928A>C (p.Ser310Arg)
c.802A>C (p.Ser268Arg)
c.*260A>C (n.*260A>C)
16g.27362577A>GCA395298008IL4Rc.1225A>G (p.Ser409Gly)
c.1180A>G (p.Ser394Gly)
c.230-1526A>G (n.230-1526A>G)
c.*1268A>G (n.*1268A>G)
c.745A>G (p.Ser249Gly)
c.334A>G (p.Ser112Gly)
c.274A>G (p.Ser92Gly)
c.958A>G (p.Ser320Gly)
c.928A>G (p.Ser310Gly)
c.802A>G (p.Ser268Gly)
c.*260A>G (n.*260A>G)
dbSNP
16g.27362577A>TCA395298006IL4Rc.1225A>T (p.Ser409Cys)
c.1180A>T (p.Ser394Cys)
c.230-1526A>T (n.230-1526A>T)
c.*1268A>T (n.*1268A>T)
c.745A>T (p.Ser249Cys)
c.334A>T (p.Ser112Cys)
c.274A>T (p.Ser92Cys)
c.958A>T (p.Ser320Cys)
c.928A>T (p.Ser310Cys)
c.802A>T (p.Ser268Cys)
c.*260A>T (n.*260A>T)
16g.27362578G>ACA395298010IL4Rc.1226G>A (p.Ser409Asn)
c.1181G>A (p.Ser394Asn)
c.230-1525G>A (n.230-1525G>A)
c.*1269G>A (n.*1269G>A)
c.746G>A (p.Ser249Asn)
c.335G>A (p.Ser112Asn)
c.275G>A (p.Ser92Asn)
c.959G>A (p.Ser320Asn)
c.929G>A (p.Ser310Asn)
c.803G>A (p.Ser268Asn)
c.*261G>A (n.*261G>A)
16g.27362578G>CCA395298013IL4Rc.1226G>C (p.Ser409Thr)
c.1181G>C (p.Ser394Thr)
c.230-1525G>C (n.230-1525G>C)
c.*1269G>C (n.*1269G>C)
c.746G>C (p.Ser249Thr)
c.335G>C (p.Ser112Thr)
c.275G>C (p.Ser92Thr)
c.959G>C (p.Ser320Thr)
c.929G>C (p.Ser310Thr)
c.803G>C (p.Ser268Thr)
c.*261G>C (n.*261G>C)
16g.27362578G=CA2215169504IL4Rc.1226G= (p.Ser409=)
c.1181G= (p.Ser394=)
c.230-1525G= (n.230-1525G=)
c.*1269G= (n.*1269G=)
c.746G= (p.Ser249=)
c.335G= (p.Ser112=)
c.275G= (p.Ser92=)
c.959G= (p.Ser320=)
c.929G= (p.Ser310=)
c.803G= (p.Ser268=)
c.*261G= (n.*261G=)
16g.27362578G>TCA279686535IL4Rc.1226G>T (p.Ser409Ile)
c.1181G>T (p.Ser394Ile)
c.230-1525G>T (n.230-1525G>T)
c.*1269G>T (n.*1269G>T)
c.746G>T (p.Ser249Ile)
c.335G>T (p.Ser112Ile)
c.275G>T (p.Ser92Ile)
c.959G>T (p.Ser320Ile)
c.929G>T (p.Ser310Ile)
c.803G>T (p.Ser268Ile)
c.*261G>T (n.*261G>T)
dbSNP gnomAD v2 gnomAD v4
16g.27362579C>ACA395298017IL4Rc.1227C>A (p.Ser409Arg)
c.1182C>A (p.Ser394Arg)
c.230-1524C>A (n.230-1524C>A)
c.*1270C>A (n.*1270C>A)
c.747C>A (p.Ser249Arg)
c.336C>A (p.Ser112Arg)
c.276C>A (p.Ser92Arg)
c.960C>A (p.Ser320Arg)
c.930C>A (p.Ser310Arg)
c.804C>A (p.Ser268Arg)
c.*262C>A (n.*262C>A)
16g.27362579C>GCA395298019IL4Rc.1227C>G (p.Ser409Arg)
c.1182C>G (p.Ser394Arg)
c.230-1524C>G (n.230-1524C>G)
c.*1270C>G (n.*1270C>G)
c.747C>G (p.Ser249Arg)
c.336C>G (p.Ser112Arg)
c.276C>G (p.Ser92Arg)
c.960C>G (p.Ser320Arg)
c.930C>G (p.Ser310Arg)
c.804C>G (p.Ser268Arg)
c.*262C>G (n.*262C>G)
16g.27362579C>TCA494470383IL4Rc.1227C>T (p.Ser409=)
c.1182C>T (p.Ser394=)
c.230-1524C>T (n.230-1524C>T)
c.*1270C>T (n.*1270C>T)
c.747C>T (p.Ser249=)
c.336C>T (p.Ser112=)
c.276C>T (p.Ser92=)
c.960C>T (p.Ser320=)
c.930C>T (p.Ser310=)
c.804C>T (p.Ser268=)
c.*262C>T (n.*262C>T)
gnomAD v4
16g.27362580C>ACA395298022IL4Rc.1228C>A (p.Leu410Met)
c.1183C>A (p.Leu395Met)
c.230-1523C>A (n.230-1523C>A)
c.*1271C>A (n.*1271C>A)
c.748C>A (p.Leu250Met)
c.337C>A (p.Leu113Met)
c.277C>A (p.Leu93Met)
c.961C>A (p.Leu321Met)
c.931C>A (p.Leu311Met)
c.805C>A (p.Leu269Met)
c.*263C>A (n.*263C>A)
16g.27362580C>GCA395298024IL4Rc.1228C>G (p.Leu410Val)
c.1183C>G (p.Leu395Val)
c.230-1523C>G (n.230-1523C>G)
c.*1271C>G (n.*1271C>G)
c.748C>G (p.Leu250Val)
c.337C>G (p.Leu113Val)
c.277C>G (p.Leu93Val)
c.961C>G (p.Leu321Val)
c.931C>G (p.Leu311Val)
c.805C>G (p.Leu269Val)
c.*263C>G (n.*263C>G)
16g.27362580C>TCA494470385IL4Rc.1228C>T (p.Leu410=)
c.1183C>T (p.Leu395=)
c.230-1523C>T (n.230-1523C>T)
c.*1271C>T (n.*1271C>T)
c.748C>T (p.Leu250=)
c.337C>T (p.Leu113=)
c.277C>T (p.Leu93=)
c.961C>T (p.Leu321=)
c.931C>T (p.Leu311=)
c.805C>T (p.Leu269=)
c.*263C>T (n.*263C>T)
gnomAD v4
16g.27362581T>ACA395298027IL4Rc.1229T>A (p.Leu410Gln)
c.1184T>A (p.Leu395Gln)
c.230-1522T>A (n.230-1522T>A)
c.*1272T>A (n.*1272T>A)
c.749T>A (p.Leu250Gln)
c.338T>A (p.Leu113Gln)
c.278T>A (p.Leu93Gln)
c.962T>A (p.Leu321Gln)
c.932T>A (p.Leu311Gln)
c.806T>A (p.Leu269Gln)
c.*264T>A (n.*264T>A)
16g.27362581T>CCA395298029IL4Rc.1229T>C (p.Leu410Pro)
c.1184T>C (p.Leu395Pro)
c.230-1522T>C (n.230-1522T>C)
c.*1272T>C (n.*1272T>C)
c.749T>C (p.Leu250Pro)
c.338T>C (p.Leu113Pro)
c.278T>C (p.Leu93Pro)
c.962T>C (p.Leu321Pro)
c.932T>C (p.Leu311Pro)
c.806T>C (p.Leu269Pro)
c.*264T>C (n.*264T>C)
16g.27362581T>GCA395298030IL4Rc.1229T>G (p.Leu410Arg)
c.1184T>G (p.Leu395Arg)
c.230-1522T>G (n.230-1522T>G)
c.*1272T>G (n.*1272T>G)
c.749T>G (p.Leu250Arg)
c.338T>G (p.Leu113Arg)
c.278T>G (p.Leu93Arg)
c.962T>G (p.Leu321Arg)
c.932T>G (p.Leu311Arg)
c.806T>G (p.Leu269Arg)
c.*264T>G (n.*264T>G)
16g.27362582G>ACA494470388IL4Rc.1230G>A (p.Leu410=)
c.1185G>A (p.Leu395=)
c.230-1521G>A (n.230-1521G>A)
c.*1273G>A (n.*1273G>A)
c.750G>A (p.Leu250=)
c.339G>A (p.Leu113=)
c.279G>A (p.Leu93=)
c.963G>A (p.Leu321=)
c.933G>A (p.Leu311=)
c.807G>A (p.Leu269=)
c.*265G>A (n.*265G>A)
16g.27362582G>CCA494470389IL4Rc.1230G>C (p.Leu410=)
c.1185G>C (p.Leu395=)
c.230-1521G>C (n.230-1521G>C)
c.*1273G>C (n.*1273G>C)
c.750G>C (p.Leu250=)
c.339G>C (p.Leu113=)
c.279G>C (p.Leu93=)
c.963G>C (p.Leu321=)
c.933G>C (p.Leu311=)
c.807G>C (p.Leu269=)
c.*265G>C (n.*265G>C)
16g.27362582G>TCA494470390IL4Rc.1230G>T (p.Leu410=)
c.1185G>T (p.Leu395=)
c.230-1521G>T (n.230-1521G>T)
c.*1273G>T (n.*1273G>T)
c.750G>T (p.Leu250=)
c.339G>T (p.Leu113=)
c.279G>T (p.Leu93=)
c.963G>T (p.Leu321=)
c.933G>T (p.Leu311=)
c.807G>T (p.Leu269=)
c.*265G>T (n.*265G>T)
16g.27362583T>ACA395298033IL4Rc.1231T>A (p.Phe411Ile)
c.1186T>A (p.Phe396Ile)
c.230-1520T>A (n.230-1520T>A)
c.*1274T>A (n.*1274T>A)
c.751T>A (p.Phe251Ile)
c.340T>A (p.Phe114Ile)
c.280T>A (p.Phe94Ile)
c.964T>A (p.Phe322Ile)
c.934T>A (p.Phe312Ile)
c.808T>A (p.Phe270Ile)
c.*266T>A (n.*266T>A)
16g.27362583T>CCA395298035IL4Rc.1231T>C (p.Phe411Leu)
c.1186T>C (p.Phe396Leu)
c.230-1520T>C (n.230-1520T>C)
c.*1274T>C (n.*1274T>C)
c.751T>C (p.Phe251Leu)
c.340T>C (p.Phe114Leu)
c.280T>C (p.Phe94Leu)
c.964T>C (p.Phe322Leu)
c.934T>C (p.Phe312Leu)
c.808T>C (p.Phe270Leu)
c.*266T>C (n.*266T>C)
16g.27362583T>GCA395298037IL4Rc.1231T>G (p.Phe411Val)
c.1186T>G (p.Phe396Val)
c.230-1520T>G (n.230-1520T>G)
c.*1274T>G (n.*1274T>G)
c.751T>G (p.Phe251Val)
c.340T>G (p.Phe114Val)
c.280T>G (p.Phe94Val)
c.964T>G (p.Phe322Val)
c.934T>G (p.Phe312Val)
c.808T>G (p.Phe270Val)
c.*266T>G (n.*266T>G)
16g.27362584T>ACA395298042IL4Rc.1232T>A (p.Phe411Tyr)
c.1187T>A (p.Phe396Tyr)
c.230-1519T>A (n.230-1519T>A)
c.*1275T>A (n.*1275T>A)
c.752T>A (p.Phe251Tyr)
c.341T>A (p.Phe114Tyr)
c.281T>A (p.Phe94Tyr)
c.965T>A (p.Phe322Tyr)
c.935T>A (p.Phe312Tyr)
c.809T>A (p.Phe270Tyr)
c.*267T>A (n.*267T>A)
16g.27362584T>CCA395298045IL4Rc.1232T>C (p.Phe411Ser)
c.1187T>C (p.Phe396Ser)
c.230-1519T>C (n.230-1519T>C)
c.*1275T>C (n.*1275T>C)
c.752T>C (p.Phe251Ser)
c.341T>C (p.Phe114Ser)
c.281T>C (p.Phe94Ser)
c.965T>C (p.Phe322Ser)
c.935T>C (p.Phe312Ser)
c.809T>C (p.Phe270Ser)
c.*267T>C (n.*267T>C)
16g.27362584T>GCA395298040IL4Rc.1232T>G (p.Phe411Cys)
c.1187T>G (p.Phe396Cys)
c.230-1519T>G (n.230-1519T>G)
c.*1275T>G (n.*1275T>G)
c.752T>G (p.Phe251Cys)
c.341T>G (p.Phe114Cys)
c.281T>G (p.Phe94Cys)
c.965T>G (p.Phe322Cys)
c.935T>G (p.Phe312Cys)
c.809T>G (p.Phe270Cys)
c.*267T>G (n.*267T>G)
16g.27362585C>ACA395298047IL4Rc.1233C>A (p.Phe411Leu)
c.1188C>A (p.Phe396Leu)
c.230-1518C>A (n.230-1518C>A)
c.*1276C>A (n.*1276C>A)
c.753C>A (p.Phe251Leu)
c.342C>A (p.Phe114Leu)
c.282C>A (p.Phe94Leu)
c.966C>A (p.Phe322Leu)
c.936C>A (p.Phe312Leu)
c.810C>A (p.Phe270Leu)
c.*268C>A (n.*268C>A)
gnomAD v3 gnomAD v4
16g.27362585C>GCA395298049IL4Rc.1233C>G (p.Phe411Leu)
c.1188C>G (p.Phe396Leu)
c.230-1518C>G (n.230-1518C>G)
c.*1276C>G (n.*1276C>G)
c.753C>G (p.Phe251Leu)
c.342C>G (p.Phe114Leu)
c.282C>G (p.Phe94Leu)
c.966C>G (p.Phe322Leu)
c.936C>G (p.Phe312Leu)
c.810C>G (p.Phe270Leu)
c.*268C>G (n.*268C>G)
16g.27362585C>TCA494470395IL4Rc.1233C>T (p.Phe411=)
c.1188C>T (p.Phe396=)
c.230-1518C>T (n.230-1518C>T)
c.*1276C>T (n.*1276C>T)
c.753C>T (p.Phe251=)
c.342C>T (p.Phe114=)
c.282C>T (p.Phe94=)
c.966C>T (p.Phe322=)
c.936C>T (p.Phe312=)
c.810C>T (p.Phe270=)
c.*268C>T (n.*268C>T)
16g.27362586delCA2632431245IL4Rc.1234del (p.Leu412TrpfsTer?)
c.1189del (p.Leu397TrpfsTer?)
c.230-1517del (n.230-1517del)
c.*1277del (n.*1277del)
c.754del (p.Leu252TrpfsTer?)
c.343del (p.Leu115TrpfsTer?)
c.283del (p.Leu95TrpfsTer?)
c.967del (p.Leu323TrpfsTer?)
c.937del (p.Leu313TrpfsTer?)
c.811del (p.Leu271TrpfsTer?)
c.*269del (n.*269del)
gnomAD v4
16g.27362586C>ACA395298052IL4Rc.1234C>A (p.Leu412Met)
c.1189C>A (p.Leu397Met)
c.230-1517C>A (n.230-1517C>A)
c.*1277C>A (n.*1277C>A)
c.754C>A (p.Leu252Met)
c.343C>A (p.Leu115Met)
c.283C>A (p.Leu95Met)
c.967C>A (p.Leu323Met)
c.937C>A (p.Leu313Met)
c.811C>A (p.Leu271Met)
c.*269C>A (n.*269C>A)
16g.27362586C>GCA395298054IL4Rc.1234C>G (p.Leu412Val)
c.1189C>G (p.Leu397Val)
c.230-1517C>G (n.230-1517C>G)
c.*1277C>G (n.*1277C>G)
c.754C>G (p.Leu252Val)
c.343C>G (p.Leu115Val)
c.283C>G (p.Leu95Val)
c.967C>G (p.Leu323Val)
c.937C>G (p.Leu313Val)
c.811C>G (p.Leu271Val)
c.*269C>G (n.*269C>G)
16g.27362586C>TCA494470396IL4Rc.1234C>T (p.Leu412=)
c.1189C>T (p.Leu397=)
c.230-1517C>T (n.230-1517C>T)
c.*1277C>T (n.*1277C>T)
c.754C>T (p.Leu252=)
c.343C>T (p.Leu115=)
c.283C>T (p.Leu95=)
c.967C>T (p.Leu323=)
c.937C>T (p.Leu313=)
c.811C>T (p.Leu271=)
c.*269C>T (n.*269C>T)
16g.27362587T>ACA395298056IL4Rc.1235T>A (p.Leu412Gln)
c.1190T>A (p.Leu397Gln)
c.230-1516T>A (n.230-1516T>A)
c.*1278T>A (n.*1278T>A)
c.755T>A (p.Leu252Gln)
c.344T>A (p.Leu115Gln)
c.284T>A (p.Leu95Gln)
c.968T>A (p.Leu323Gln)
c.938T>A (p.Leu313Gln)
c.812T>A (p.Leu271Gln)
c.*270T>A (n.*270T>A)
16g.27362587T>CCA395298058IL4Rc.1235T>C (p.Leu412Pro)
c.1190T>C (p.Leu397Pro)
c.230-1516T>C (n.230-1516T>C)
c.*1278T>C (n.*1278T>C)
c.755T>C (p.Leu252Pro)
c.344T>C (p.Leu115Pro)
c.284T>C (p.Leu95Pro)
c.968T>C (p.Leu323Pro)
c.938T>C (p.Leu313Pro)
c.812T>C (p.Leu271Pro)
c.*270T>C (n.*270T>C)
gnomAD v4
16g.27362587T>GCA395298060IL4Rc.1235T>G (p.Leu412Arg)
c.1190T>G (p.Leu397Arg)
c.230-1516T>G (n.230-1516T>G)
c.*1278T>G (n.*1278T>G)
c.755T>G (p.Leu252Arg)
c.344T>G (p.Leu115Arg)
c.284T>G (p.Leu95Arg)
c.968T>G (p.Leu323Arg)
c.938T>G (p.Leu313Arg)
c.812T>G (p.Leu271Arg)
c.*270T>G (n.*270T>G)
16g.27362588G>ACA494470404IL4Rc.1236G>A (p.Leu412=)
c.1191G>A (p.Leu397=)
c.230-1515G>A (n.230-1515G>A)
c.*1279G>A (n.*1279G>A)
c.756G>A (p.Leu252=)
c.345G>A (p.Leu115=)
c.285G>A (p.Leu95=)
c.969G>A (p.Leu323=)
c.939G>A (p.Leu313=)
c.813G>A (p.Leu271=)
c.*271G>A (n.*271G>A)
dbSNP gnomAD v4
16g.27362588G>CCA494470405IL4Rc.1236G>C (p.Leu412=)
c.1191G>C (p.Leu397=)
c.230-1515G>C (n.230-1515G>C)
c.*1279G>C (n.*1279G>C)
c.756G>C (p.Leu252=)
c.345G>C (p.Leu115=)
c.285G>C (p.Leu95=)
c.969G>C (p.Leu323=)
c.939G>C (p.Leu313=)
c.813G>C (p.Leu271=)
c.*271G>C (n.*271G>C)
16g.27362588G=CA2215169505IL4Rc.1236G= (p.Leu412=)
c.1191G= (p.Leu397=)
c.230-1515G= (n.230-1515G=)
c.*1279G= (n.*1279G=)
c.756G= (p.Leu252=)
c.345G= (p.Leu115=)
c.285G= (p.Leu95=)
c.969G= (p.Leu323=)
c.939G= (p.Leu313=)
c.813G= (p.Leu271=)
c.*271G= (n.*271G=)
16g.27362588G>TCA494470406IL4Rc.1236G>T (p.Leu412=)
c.1191G>T (p.Leu397=)
c.230-1515G>T (n.230-1515G>T)
c.*1279G>T (n.*1279G>T)
c.756G>T (p.Leu252=)
c.345G>T (p.Leu115=)
c.285G>T (p.Leu95=)
c.969G>T (p.Leu323=)
c.939G>T (p.Leu313=)
c.813G>T (p.Leu271=)
c.*271G>T (n.*271G>T)
16g.27362589G>ACA395298063IL4Rc.1237G>A (p.Asp413Asn)
c.1192G>A (p.Asp398Asn)
c.230-1514G>A (n.230-1514G>A)
c.*1280G>A (n.*1280G>A)
c.757G>A (p.Asp253Asn)
c.346G>A (p.Asp116Asn)
c.286G>A (p.Asp96Asn)
c.970G>A (p.Asp324Asn)
c.940G>A (p.Asp314Asn)
c.814G>A (p.Asp272Asn)
c.*272G>A (n.*272G>A)
gnomAD v4
16g.27362589G>CCA395298065IL4Rc.1237G>C (p.Asp413His)
c.1192G>C (p.Asp398His)
c.230-1514G>C (n.230-1514G>C)
c.*1280G>C (n.*1280G>C)
c.757G>C (p.Asp253His)
c.346G>C (p.Asp116His)
c.286G>C (p.Asp96His)
c.970G>C (p.Asp324His)
c.940G>C (p.Asp314His)
c.814G>C (p.Asp272His)
c.*272G>C (n.*272G>C)
16g.27362589G>TCA395298068IL4Rc.1237G>T (p.Asp413Tyr)
c.1192G>T (p.Asp398Tyr)
c.230-1514G>T (n.230-1514G>T)
c.*1280G>T (n.*1280G>T)
c.757G>T (p.Asp253Tyr)
c.346G>T (p.Asp116Tyr)
c.286G>T (p.Asp96Tyr)
c.970G>T (p.Asp324Tyr)
c.940G>T (p.Asp314Tyr)
c.814G>T (p.Asp272Tyr)
c.*272G>T (n.*272G>T)
gnomAD v3 gnomAD v4
16g.27362590A>CCA395298071IL4Rc.1238A>C (p.Asp413Ala)
c.1193A>C (p.Asp398Ala)
c.230-1513A>C (n.230-1513A>C)
c.*1281A>C (n.*1281A>C)
c.758A>C (p.Asp253Ala)
c.347A>C (p.Asp116Ala)
c.287A>C (p.Asp96Ala)
c.971A>C (p.Asp324Ala)
c.941A>C (p.Asp314Ala)
c.815A>C (p.Asp272Ala)
c.*273A>C (n.*273A>C)
16g.27362590A>GCA395298073IL4Rc.1238A>G (p.Asp413Gly)
c.1193A>G (p.Asp398Gly)
c.230-1513A>G (n.230-1513A>G)
c.*1281A>G (n.*1281A>G)
c.758A>G (p.Asp253Gly)
c.347A>G (p.Asp116Gly)
c.287A>G (p.Asp96Gly)
c.971A>G (p.Asp324Gly)
c.941A>G (p.Asp314Gly)
c.815A>G (p.Asp272Gly)
c.*273A>G (n.*273A>G)
16g.27362590A>TCA395298075IL4Rc.1238A>T (p.Asp413Val)
c.1193A>T (p.Asp398Val)
c.230-1513A>T (n.230-1513A>T)
c.*1281A>T (n.*1281A>T)
c.758A>T (p.Asp253Val)
c.347A>T (p.Asp116Val)
c.287A>T (p.Asp96Val)
c.971A>T (p.Asp324Val)
c.941A>T (p.Asp314Val)
c.815A>T (p.Asp272Val)
c.*273A>T (n.*273A>T)
16g.27362591C>ACA395298077IL4Rc.1239C>A (p.Asp413Glu)
c.1194C>A (p.Asp398Glu)
c.230-1512C>A (n.230-1512C>A)
c.*1282C>A (n.*1282C>A)
c.759C>A (p.Asp253Glu)
c.348C>A (p.Asp116Glu)
c.288C>A (p.Asp96Glu)
c.972C>A (p.Asp324Glu)
c.942C>A (p.Asp314Glu)
c.816C>A (p.Asp272Glu)
c.*274C>A (n.*274C>A)
16g.27362591C>GCA395298080IL4Rc.1239C>G (p.Asp413Glu)
c.1194C>G (p.Asp398Glu)
c.230-1512C>G (n.230-1512C>G)
c.*1282C>G (n.*1282C>G)
c.759C>G (p.Asp253Glu)
c.348C>G (p.Asp116Glu)
c.288C>G (p.Asp96Glu)
c.972C>G (p.Asp324Glu)
c.942C>G (p.Asp314Glu)
c.816C>G (p.Asp272Glu)
c.*274C>G (n.*274C>G)
16g.27362591C>TCA494470411IL4Rc.1239C>T (p.Asp413=)
c.1194C>T (p.Asp398=)
c.230-1512C>T (n.230-1512C>T)
c.*1282C>T (n.*1282C>T)
c.759C>T (p.Asp253=)
c.348C>T (p.Asp116=)
c.288C>T (p.Asp96=)
c.972C>T (p.Asp324=)
c.942C>T (p.Asp314=)
c.816C>T (p.Asp272=)
c.*274C>T (n.*274C>T)
gnomAD v4
16g.27362592C>ACA395298081IL4Rc.1240C>A (p.Leu414Met)
c.1195C>A (p.Leu399Met)
c.230-1511C>A (n.230-1511C>A)
c.*1283C>A (n.*1283C>A)
c.760C>A (p.Leu254Met)
c.349C>A (p.Leu117Met)
c.289C>A (p.Leu97Met)
c.973C>A (p.Leu325Met)
c.943C>A (p.Leu315Met)
c.817C>A (p.Leu273Met)
c.*275C>A (n.*275C>A)
16g.27362592C=CA2215169507IL4Rc.1240C= (p.Leu414=)
c.1195C= (p.Leu399=)
c.230-1511C= (n.230-1511C=)
c.*1283C= (n.*1283C=)
c.760C= (p.Leu254=)
c.349C= (p.Leu117=)
c.289C= (p.Leu97=)
c.973C= (p.Leu325=)
c.943C= (p.Leu315=)
c.817C= (p.Leu273=)
c.*275C= (n.*275C=)
16g.27362592C>GCA395298083IL4Rc.1240C>G (p.Leu414Val)
c.1195C>G (p.Leu399Val)
c.230-1511C>G (n.230-1511C>G)
c.*1283C>G (n.*1283C>G)
c.760C>G (p.Leu254Val)
c.349C>G (p.Leu117Val)
c.289C>G (p.Leu97Val)
c.973C>G (p.Leu325Val)
c.943C>G (p.Leu315Val)
c.817C>G (p.Leu273Val)
c.*275C>G (n.*275C>G)
16g.27362592C>TCA494470412IL4Rc.1240C>T (p.Leu414=)
c.1195C>T (p.Leu399=)
c.230-1511C>T (n.230-1511C>T)
c.*1283C>T (n.*1283C>T)
c.760C>T (p.Leu254=)
c.349C>T (p.Leu117=)
c.289C>T (p.Leu97=)
c.973C>T (p.Leu325=)
c.943C>T (p.Leu315=)
c.817C>T (p.Leu273=)
c.*275C>T (n.*275C>T)
dbSNP
16g.27362594_27362596delCA2632431247IL4Rc.1242_1244del (p.Leu415del)
c.1197_1199del (p.Leu400del)
c.230-1509_230-1507del (n.230-1509_230-1507del)
c.*1285_*1287del (n.*1285_*1287del)
c.762_764del (p.Leu255del)
c.351_353del (p.Leu118del)
c.291_293del (p.Leu98del)
c.975_977del (p.Leu326del)
c.945_947del (p.Leu316del)
c.819_821del (p.Leu274del)
c.*277_*279del (n.*277_*279del)
dbSNP gnomAD v4
16g.27362593T>ACA395298086IL4Rc.1241T>A (p.Leu414Gln)
c.1196T>A (p.Leu399Gln)
c.230-1510T>A (n.230-1510T>A)
c.*1284T>A (n.*1284T>A)
c.761T>A (p.Leu254Gln)
c.350T>A (p.Leu117Gln)
c.290T>A (p.Leu97Gln)
c.974T>A (p.Leu325Gln)
c.944T>A (p.Leu315Gln)
c.818T>A (p.Leu273Gln)
c.*276T>A (n.*276T>A)
16g.27362593T>CCA395298088IL4Rc.1241T>C (p.Leu414Pro)
c.1196T>C (p.Leu399Pro)
c.230-1510T>C (n.230-1510T>C)
c.*1284T>C (n.*1284T>C)
c.761T>C (p.Leu254Pro)
c.350T>C (p.Leu117Pro)
c.290T>C (p.Leu97Pro)
c.974T>C (p.Leu325Pro)
c.944T>C (p.Leu315Pro)
c.818T>C (p.Leu273Pro)
c.*276T>C (n.*276T>C)
16g.27362593T>GCA395298090IL4Rc.1241T>G (p.Leu414Arg)
c.1196T>G (p.Leu399Arg)
c.230-1510T>G (n.230-1510T>G)
c.*1284T>G (n.*1284T>G)
c.761T>G (p.Leu254Arg)
c.350T>G (p.Leu117Arg)
c.290T>G (p.Leu97Arg)
c.974T>G (p.Leu325Arg)
c.944T>G (p.Leu315Arg)
c.818T>G (p.Leu273Arg)
c.*276T>G (n.*276T>G)
16g.27362594G>ACA494470415IL4Rc.1242G>A (p.Leu414=)
c.1197G>A (p.Leu399=)
c.230-1509G>A (n.230-1509G>A)
c.*1285G>A (n.*1285G>A)
c.762G>A (p.Leu254=)
c.351G>A (p.Leu117=)
c.291G>A (p.Leu97=)
c.975G>A (p.Leu325=)
c.945G>A (p.Leu315=)
c.819G>A (p.Leu273=)
c.*277G>A (n.*277G>A)
16g.27362594G>CCA494470417IL4Rc.1242G>C (p.Leu414=)
c.1197G>C (p.Leu399=)
c.230-1509G>C (n.230-1509G>C)
c.*1285G>C (n.*1285G>C)
c.762G>C (p.Leu254=)
c.351G>C (p.Leu117=)
c.291G>C (p.Leu97=)
c.975G>C (p.Leu325=)
c.945G>C (p.Leu315=)
c.819G>C (p.Leu273=)
c.*277G>C (n.*277G>C)
16g.27362594G=CA2215169509IL4Rc.1242G= (p.Leu414=)
c.1197G= (p.Leu399=)
c.230-1509G= (n.230-1509G=)
c.*1285G= (n.*1285G=)
c.762G= (p.Leu254=)
c.351G= (p.Leu117=)
c.291G= (p.Leu97=)
c.975G= (p.Leu325=)
c.945G= (p.Leu315=)
c.819G= (p.Leu273=)
c.*277G= (n.*277G=)
16g.27362594G>TCA7974521IL4Rc.1242G>T (p.Leu414=)
c.1197G>T (p.Leu399=)
c.230-1509G>T (n.230-1509G>T)
c.*1285G>T (n.*1285G>T)
c.762G>T (p.Leu254=)
c.351G>T (p.Leu117=)
c.291G>T (p.Leu97=)
c.975G>T (p.Leu325=)
c.945G>T (p.Leu315=)
c.819G>T (p.Leu273=)
c.*277G>T (n.*277G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362595C>ACA395298095IL4Rc.1243C>A (p.Leu415Ile)
c.1198C>A (p.Leu400Ile)
c.230-1508C>A (n.230-1508C>A)
c.*1286C>A (n.*1286C>A)
c.763C>A (p.Leu255Ile)
c.352C>A (p.Leu118Ile)
c.292C>A (p.Leu98Ile)
c.976C>A (p.Leu326Ile)
c.946C>A (p.Leu316Ile)
c.820C>A (p.Leu274Ile)
c.*278C>A (n.*278C>A)
16g.27362595C=CA2215169510IL4Rc.1243C= (p.Leu415=)
c.1198C= (p.Leu400=)
c.230-1508C= (n.230-1508C=)
c.*1286C= (n.*1286C=)
c.763C= (p.Leu255=)
c.352C= (p.Leu118=)
c.292C= (p.Leu98=)
c.976C= (p.Leu326=)
c.946C= (p.Leu316=)
c.820C= (p.Leu274=)
c.*278C= (n.*278C=)
16g.27362595C>GCA395298097IL4Rc.1243C>G (p.Leu415Val)
c.1198C>G (p.Leu400Val)
c.230-1508C>G (n.230-1508C>G)
c.*1286C>G (n.*1286C>G)
c.763C>G (p.Leu255Val)
c.352C>G (p.Leu118Val)
c.292C>G (p.Leu98Val)
c.976C>G (p.Leu326Val)
c.946C>G (p.Leu316Val)
c.820C>G (p.Leu274Val)
c.*278C>G (n.*278C>G)
gnomAD v3 gnomAD v4
16g.27362595C>TCA395298099IL4Rc.1243C>T (p.Leu415Phe)
c.1198C>T (p.Leu400Phe)
c.230-1508C>T (n.230-1508C>T)
c.*1286C>T (n.*1286C>T)
c.763C>T (p.Leu255Phe)
c.352C>T (p.Leu118Phe)
c.292C>T (p.Leu98Phe)
c.976C>T (p.Leu326Phe)
c.946C>T (p.Leu316Phe)
c.820C>T (p.Leu274Phe)
c.*278C>T (n.*278C>T)
dbSNP gnomAD v2 gnomAD v4
16g.27362596T>ACA395298102IL4Rc.1244T>A (p.Leu415His)
c.1199T>A (p.Leu400His)
c.230-1507T>A (n.230-1507T>A)
c.*1287T>A (n.*1287T>A)
c.764T>A (p.Leu255His)
c.353T>A (p.Leu118His)
c.293T>A (p.Leu98His)
c.977T>A (p.Leu326His)
c.947T>A (p.Leu316His)
c.821T>A (p.Leu274His)
c.*279T>A (n.*279T>A)
16g.27362596T>CCA395298107IL4Rc.1244T>C (p.Leu415Pro)
c.1199T>C (p.Leu400Pro)
c.230-1507T>C (n.230-1507T>C)
c.*1287T>C (n.*1287T>C)
c.764T>C (p.Leu255Pro)
c.353T>C (p.Leu118Pro)
c.293T>C (p.Leu98Pro)
c.977T>C (p.Leu326Pro)
c.947T>C (p.Leu316Pro)
c.821T>C (p.Leu274Pro)
c.*279T>C (n.*279T>C)
16g.27362596T>GCA395298104IL4Rc.1244T>G (p.Leu415Arg)
c.1199T>G (p.Leu400Arg)
c.230-1507T>G (n.230-1507T>G)
c.*1287T>G (n.*1287T>G)
c.764T>G (p.Leu255Arg)
c.353T>G (p.Leu118Arg)
c.293T>G (p.Leu98Arg)
c.977T>G (p.Leu326Arg)
c.947T>G (p.Leu316Arg)
c.821T>G (p.Leu274Arg)
c.*279T>G (n.*279T>G)
16g.27362597C>ACA494470424IL4Rc.1245C>A (p.Leu415=)
c.1200C>A (p.Leu400=)
c.230-1506C>A (n.230-1506C>A)
c.*1288C>A (n.*1288C>A)
c.765C>A (p.Leu255=)
c.354C>A (p.Leu118=)
c.294C>A (p.Leu98=)
c.978C>A (p.Leu326=)
c.948C>A (p.Leu316=)
c.822C>A (p.Leu274=)
c.*280C>A (n.*280C>A)
dbSNP
16g.27362597C=CA2215169514IL4Rc.1245C= (p.Leu415=)
c.1200C= (p.Leu400=)
c.230-1506C= (n.230-1506C=)
c.*1288C= (n.*1288C=)
c.765C= (p.Leu255=)
c.354C= (p.Leu118=)
c.294C= (p.Leu98=)
c.978C= (p.Leu326=)
c.948C= (p.Leu316=)
c.822C= (p.Leu274=)
c.*280C= (n.*280C=)
16g.27362597C>GCA494470425IL4Rc.1245C>G (p.Leu415=)
c.1200C>G (p.Leu400=)
c.230-1506C>G (n.230-1506C>G)
c.*1288C>G (n.*1288C>G)
c.765C>G (p.Leu255=)
c.354C>G (p.Leu118=)
c.294C>G (p.Leu98=)
c.978C>G (p.Leu326=)
c.948C>G (p.Leu316=)
c.822C>G (p.Leu274=)
c.*280C>G (n.*280C>G)
16g.27362597C>TCA7974522IL4Rc.1245C>T (p.Leu415=)
c.1200C>T (p.Leu400=)
c.230-1506C>T (n.230-1506C>T)
c.*1288C>T (n.*1288C>T)
c.765C>T (p.Leu255=)
c.354C>T (p.Leu118=)
c.294C>T (p.Leu98=)
c.978C>T (p.Leu326=)
c.948C>T (p.Leu316=)
c.822C>T (p.Leu274=)
c.*280C>T (n.*280C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362598G>ACA7974523IL4Rc.1246G>A (p.Gly416Arg)
c.1201G>A (p.Gly401Arg)
c.230-1505G>A (n.230-1505G>A)
c.*1289G>A (n.*1289G>A)
c.766G>A (p.Gly256Arg)
c.355G>A (p.Gly119Arg)
c.295G>A (p.Gly99Arg)
c.979G>A (p.Gly327Arg)
c.949G>A (p.Gly317Arg)
c.823G>A (p.Gly275Arg)
c.*281G>A (n.*281G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362598G>CCA395298114IL4Rc.1246G>C (p.Gly416Arg)
c.1201G>C (p.Gly401Arg)
c.230-1505G>C (n.230-1505G>C)
c.*1289G>C (n.*1289G>C)
c.766G>C (p.Gly256Arg)
c.355G>C (p.Gly119Arg)
c.295G>C (p.Gly99Arg)
c.979G>C (p.Gly327Arg)
c.949G>C (p.Gly317Arg)
c.823G>C (p.Gly275Arg)
c.*281G>C (n.*281G>C)
dbSNP gnomAD v4
16g.27362598G=CA2215169516IL4Rc.1246G= (p.Gly416=)
c.1201G= (p.Gly401=)
c.230-1505G= (n.230-1505G=)
c.*1289G= (n.*1289G=)
c.766G= (p.Gly256=)
c.355G= (p.Gly119=)
c.295G= (p.Gly99=)
c.979G= (p.Gly327=)
c.949G= (p.Gly317=)
c.823G= (p.Gly275=)
c.*281G= (n.*281G=)
16g.27362598G>TCA395298115IL4Rc.1246G>T (p.Gly416Ter)
c.1201G>T (p.Gly401Ter)
c.230-1505G>T (n.230-1505G>T)
c.*1289G>T (n.*1289G>T)
c.766G>T (p.Gly256Ter)
c.355G>T (p.Gly119Ter)
c.295G>T (p.Gly99Ter)
c.979G>T (p.Gly327Ter)
c.949G>T (p.Gly317Ter)
c.823G>T (p.Gly275Ter)
c.*281G>T (n.*281G>T)
16g.27362599G>ACA7974524IL4Rc.1247G>A (p.Gly416Glu)
c.1202G>A (p.Gly401Glu)
c.230-1504G>A (n.230-1504G>A)
c.*1290G>A (n.*1290G>A)
c.767G>A (p.Gly256Glu)
c.356G>A (p.Gly119Glu)
c.296G>A (p.Gly99Glu)
c.980G>A (p.Gly327Glu)
c.950G>A (p.Gly317Glu)
c.824G>A (p.Gly275Glu)
c.*282G>A (n.*282G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362599G>CCA395298120IL4Rc.1247G>C (p.Gly416Ala)
c.1202G>C (p.Gly401Ala)
c.230-1504G>C (n.230-1504G>C)
c.*1290G>C (n.*1290G>C)
c.767G>C (p.Gly256Ala)
c.356G>C (p.Gly119Ala)
c.296G>C (p.Gly99Ala)
c.980G>C (p.Gly327Ala)
c.950G>C (p.Gly317Ala)
c.824G>C (p.Gly275Ala)
c.*282G>C (n.*282G>C)
16g.27362599G=CA2215169521IL4Rc.1247G= (p.Gly416=)
c.1202G= (p.Gly401=)
c.230-1504G= (n.230-1504G=)
c.*1290G= (n.*1290G=)
c.767G= (p.Gly256=)
c.356G= (p.Gly119=)
c.296G= (p.Gly99=)
c.980G= (p.Gly327=)
c.950G= (p.Gly317=)
c.824G= (p.Gly275=)
c.*282G= (n.*282G=)
16g.27362599G>TCA395298118IL4Rc.1247G>T (p.Gly416Val)
c.1202G>T (p.Gly401Val)
c.230-1504G>T (n.230-1504G>T)
c.*1290G>T (n.*1290G>T)
c.767G>T (p.Gly256Val)
c.356G>T (p.Gly119Val)
c.296G>T (p.Gly99Val)
c.980G>T (p.Gly327Val)
c.950G>T (p.Gly317Val)
c.824G>T (p.Gly275Val)
c.*282G>T (n.*282G>T)
16g.27362600A=CA2215169524IL4Rc.1248A= (p.Gly416=)
c.1203A= (p.Gly401=)
c.230-1503A= (n.230-1503A=)
c.*1291A= (n.*1291A=)
c.768A= (p.Gly256=)
c.357A= (p.Gly119=)
c.297A= (p.Gly99=)
c.981A= (p.Gly327=)
c.951A= (p.Gly317=)
c.825A= (p.Gly275=)
c.*283A= (n.*283A=)
16g.27362600A>CCA494470430IL4Rc.1248A>C (p.Gly416=)
c.1203A>C (p.Gly401=)
c.230-1503A>C (n.230-1503A>C)
c.*1291A>C (n.*1291A>C)
c.768A>C (p.Gly256=)
c.357A>C (p.Gly119=)
c.297A>C (p.Gly99=)
c.981A>C (p.Gly327=)
c.951A>C (p.Gly317=)
c.825A>C (p.Gly275=)
c.*283A>C (n.*283A>C)
16g.27362600A>GCA7974525IL4Rc.1248A>G (p.Gly416=)
c.1203A>G (p.Gly401=)
c.230-1503A>G (n.230-1503A>G)
c.*1291A>G (n.*1291A>G)
c.768A>G (p.Gly256=)
c.357A>G (p.Gly119=)
c.297A>G (p.Gly99=)
c.981A>G (p.Gly327=)
c.951A>G (p.Gly317=)
c.825A>G (p.Gly275=)
c.*283A>G (n.*283A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362600A>TCA494470431IL4Rc.1248A>T (p.Gly416=)
c.1203A>T (p.Gly401=)
c.230-1503A>T (n.230-1503A>T)
c.*1291A>T (n.*1291A>T)
c.768A>T (p.Gly256=)
c.357A>T (p.Gly119=)
c.297A>T (p.Gly99=)
c.981A>T (p.Gly327=)
c.951A>T (p.Gly317=)
c.825A>T (p.Gly275=)
c.*283A>T (n.*283A>T)
16g.27362600_27362603delinsAGAGCA2215169525IL4Rc.1248_1251delinsAGAG (p.Gly416=)
c.1203_1206delinsAGAG (p.Gly401=)
c.230-1503_230-1500delinsAGAG (n.230-1503_230-1500delinsAGAG)
c.*1291_*1294delinsAGAG (n.*1291_*1294delinsAGAG)
c.768_771delinsAGAG (p.Gly256=)
c.357_360delinsAGAG (p.Gly119=)
c.297_300delinsAGAG (p.Gly99=)
c.981_984delinsAGAG (p.Gly327=)
c.951_954delinsAGAG (p.Gly317=)
c.825_828delinsAGAG (p.Gly275=)
c.*283_*286delinsAGAG (n.*283_*286delinsAGAG)
16g.27362601G>ACA395298126IL4Rc.1249G>A (p.Glu417Lys)
c.1204G>A (p.Glu402Lys)
c.230-1502G>A (n.230-1502G>A)
c.*1292G>A (n.*1292G>A)
c.769G>A (p.Glu257Lys)
c.358G>A (p.Glu120Lys)
c.298G>A (p.Glu100Lys)
c.982G>A (p.Glu328Lys)
c.952G>A (p.Glu318Lys)
c.826G>A (p.Glu276Lys)
c.*284G>A (n.*284G>A)
16g.27362601G>CCA395298128IL4Rc.1249G>C (p.Glu417Gln)
c.1204G>C (p.Glu402Gln)
c.230-1502G>C (n.230-1502G>C)
c.*1292G>C (n.*1292G>C)
c.769G>C (p.Glu257Gln)
c.358G>C (p.Glu120Gln)
c.298G>C (p.Glu100Gln)
c.982G>C (p.Glu328Gln)
c.952G>C (p.Glu318Gln)
c.826G>C (p.Glu276Gln)
c.*284G>C (n.*284G>C)
16g.27362601G>TCA395298130IL4Rc.1249G>T (p.Glu417Ter)
c.1204G>T (p.Glu402Ter)
c.230-1502G>T (n.230-1502G>T)
c.*1292G>T (n.*1292G>T)
c.769G>T (p.Glu257Ter)
c.358G>T (p.Glu120Ter)
c.298G>T (p.Glu100Ter)
c.982G>T (p.Glu328Ter)
c.952G>T (p.Glu318Ter)
c.826G>T (p.Glu276Ter)
c.*284G>T (n.*284G>T)
16g.27362604_27362606delCA2215169527IL4Rc.1252_1254del (p.Glu418del)
c.1207_1209del (p.Glu403del)
c.230-1499_230-1497del (n.230-1499_230-1497del)
c.*1295_*1297del (n.*1295_*1297del)
c.772_774del (p.Glu258del)
c.361_363del (p.Glu121del)
c.301_303del (p.Glu101del)
c.985_987del (p.Glu329del)
c.955_957del (p.Glu319del)
c.829_831del (p.Glu277del)
c.*287_*289del (n.*287_*289del)
dbSNP gnomAD v3 gnomAD v4
16g.27362602A>CCA395298133IL4Rc.1250A>C (p.Glu417Ala)
c.1205A>C (p.Glu402Ala)
c.230-1501A>C (n.230-1501A>C)
c.*1293A>C (n.*1293A>C)
c.770A>C (p.Glu257Ala)
c.359A>C (p.Glu120Ala)
c.299A>C (p.Glu100Ala)
c.983A>C (p.Glu328Ala)
c.953A>C (p.Glu318Ala)
c.827A>C (p.Glu276Ala)
c.*285A>C (n.*285A>C)
16g.27362602A>GCA395298135IL4Rc.1250A>G (p.Glu417Gly)
c.1205A>G (p.Glu402Gly)
c.230-1501A>G (n.230-1501A>G)
c.*1293A>G (n.*1293A>G)
c.770A>G (p.Glu257Gly)
c.359A>G (p.Glu120Gly)
c.299A>G (p.Glu100Gly)
c.983A>G (p.Glu328Gly)
c.953A>G (p.Glu318Gly)
c.827A>G (p.Glu276Gly)
c.*285A>G (n.*285A>G)
16g.27362602A>TCA395298137IL4Rc.1250A>T (p.Glu417Val)
c.1205A>T (p.Glu402Val)
c.230-1501A>T (n.230-1501A>T)
c.*1293A>T (n.*1293A>T)
c.770A>T (p.Glu257Val)
c.359A>T (p.Glu120Val)
c.299A>T (p.Glu100Val)
c.983A>T (p.Glu328Val)
c.953A>T (p.Glu318Val)
c.827A>T (p.Glu276Val)
c.*285A>T (n.*285A>T)
16g.27362603G>ACA494470435IL4Rc.1251G>A (p.Glu417=)
c.1206G>A (p.Glu402=)
c.230-1500G>A (n.230-1500G>A)
c.*1294G>A (n.*1294G>A)
c.771G>A (p.Glu257=)
c.360G>A (p.Glu120=)
c.300G>A (p.Glu100=)
c.984G>A (p.Glu328=)
c.954G>A (p.Glu318=)
c.828G>A (p.Glu276=)
c.*286G>A (n.*286G>A)
gnomAD v4
16g.27362603G>CCA395298139IL4Rc.1251G>C (p.Glu417Asp)
c.1206G>C (p.Glu402Asp)
c.230-1500G>C (n.230-1500G>C)
c.*1294G>C (n.*1294G>C)
c.771G>C (p.Glu257Asp)
c.360G>C (p.Glu120Asp)
c.300G>C (p.Glu100Asp)
c.984G>C (p.Glu328Asp)
c.954G>C (p.Glu318Asp)
c.828G>C (p.Glu276Asp)
c.*286G>C (n.*286G>C)
16g.27362603G>TCA395298141IL4Rc.1251G>T (p.Glu417Asp)
c.1206G>T (p.Glu402Asp)
c.230-1500G>T (n.230-1500G>T)
c.*1294G>T (n.*1294G>T)
c.771G>T (p.Glu257Asp)
c.360G>T (p.Glu120Asp)
c.300G>T (p.Glu100Asp)
c.984G>T (p.Glu328Asp)
c.954G>T (p.Glu318Asp)
c.828G>T (p.Glu276Asp)
c.*286G>T (n.*286G>T)
16g.27362604G>ACA395298143IL4Rc.1252G>A (p.Glu418Lys)
c.1207G>A (p.Glu403Lys)
c.230-1499G>A (n.230-1499G>A)
c.*1295G>A (n.*1295G>A)
c.772G>A (p.Glu258Lys)
c.361G>A (p.Glu121Lys)
c.301G>A (p.Glu101Lys)
c.985G>A (p.Glu329Lys)
c.955G>A (p.Glu319Lys)
c.829G>A (p.Glu277Lys)
c.*287G>A (n.*287G>A)
gnomAD v4 COSMIC
16g.27362604G>CCA395298145IL4Rc.1252G>C (p.Glu418Gln)
c.1207G>C (p.Glu403Gln)
c.230-1499G>C (n.230-1499G>C)
c.*1295G>C (n.*1295G>C)
c.772G>C (p.Glu258Gln)
c.361G>C (p.Glu121Gln)
c.301G>C (p.Glu101Gln)
c.985G>C (p.Glu329Gln)
c.955G>C (p.Glu319Gln)
c.829G>C (p.Glu277Gln)
c.*287G>C (n.*287G>C)
dbSNP gnomAD v3 gnomAD v4
16g.27362604G=CA2215169528IL4Rc.1252G= (p.Glu418=)
c.1207G= (p.Glu403=)
c.230-1499G= (n.230-1499G=)
c.*1295G= (n.*1295G=)
c.772G= (p.Glu258=)
c.361G= (p.Glu121=)
c.301G= (p.Glu101=)
c.985G= (p.Glu329=)
c.955G= (p.Glu319=)
c.829G= (p.Glu277=)
c.*287G= (n.*287G=)
16g.27362604G>TCA395298147IL4Rc.1252G>T (p.Glu418Ter)
c.1207G>T (p.Glu403Ter)
c.230-1499G>T (n.230-1499G>T)
c.*1295G>T (n.*1295G>T)
c.772G>T (p.Glu258Ter)
c.361G>T (p.Glu121Ter)
c.301G>T (p.Glu101Ter)
c.985G>T (p.Glu329Ter)
c.955G>T (p.Glu319Ter)
c.829G>T (p.Glu277Ter)
c.*287G>T (n.*287G>T)
gnomAD v4
16g.27362605A>CCA395298151IL4Rc.1253A>C (p.Glu418Ala)
c.1208A>C (p.Glu403Ala)
c.230-1498A>C (n.230-1498A>C)
c.*1296A>C (n.*1296A>C)
c.773A>C (p.Glu258Ala)
c.362A>C (p.Glu121Ala)
c.302A>C (p.Glu101Ala)
c.986A>C (p.Glu329Ala)
c.956A>C (p.Glu319Ala)
c.830A>C (p.Glu277Ala)
c.*288A>C (n.*288A>C)
16g.27362605A>GCA395298154IL4Rc.1253A>G (p.Glu418Gly)
c.1208A>G (p.Glu403Gly)
c.230-1498A>G (n.230-1498A>G)
c.*1296A>G (n.*1296A>G)
c.773A>G (p.Glu258Gly)
c.362A>G (p.Glu121Gly)
c.302A>G (p.Glu101Gly)
c.986A>G (p.Glu329Gly)
c.956A>G (p.Glu319Gly)
c.830A>G (p.Glu277Gly)
c.*288A>G (n.*288A>G)
16g.27362605A>TCA395298150IL4Rc.1253A>T (p.Glu418Val)
c.1208A>T (p.Glu403Val)
c.230-1498A>T (n.230-1498A>T)
c.*1296A>T (n.*1296A>T)
c.773A>T (p.Glu258Val)
c.362A>T (p.Glu121Val)
c.302A>T (p.Glu101Val)
c.986A>T (p.Glu329Val)
c.956A>T (p.Glu319Val)
c.830A>T (p.Glu277Val)
c.*288A>T (n.*288A>T)
16g.27362606G>ACA494470440IL4Rc.1254G>A (p.Glu418=)
c.1209G>A (p.Glu403=)
c.230-1497G>A (n.230-1497G>A)
c.*1297G>A (n.*1297G>A)
c.774G>A (p.Glu258=)
c.363G>A (p.Glu121=)
c.303G>A (p.Glu101=)
c.987G>A (p.Glu329=)
c.957G>A (p.Glu319=)
c.831G>A (p.Glu277=)
c.*289G>A (n.*289G>A)
gnomAD v4
16g.27362606G>CCA395298156IL4Rc.1254G>C (p.Glu418Asp)
c.1209G>C (p.Glu403Asp)
c.230-1497G>C (n.230-1497G>C)
c.*1297G>C (n.*1297G>C)
c.774G>C (p.Glu258Asp)
c.363G>C (p.Glu121Asp)
c.303G>C (p.Glu101Asp)
c.987G>C (p.Glu329Asp)
c.957G>C (p.Glu319Asp)
c.831G>C (p.Glu277Asp)
c.*289G>C (n.*289G>C)
16g.27362606G>TCA395298158IL4Rc.1254G>T (p.Glu418Asp)
c.1209G>T (p.Glu403Asp)
c.230-1497G>T (n.230-1497G>T)
c.*1297G>T (n.*1297G>T)
c.774G>T (p.Glu258Asp)
c.363G>T (p.Glu121Asp)
c.303G>T (p.Glu101Asp)
c.987G>T (p.Glu329Asp)
c.957G>T (p.Glu319Asp)
c.831G>T (p.Glu277Asp)
c.*289G>T (n.*289G>T)
16g.27362607A>CCA395298162IL4Rc.1255A>C (p.Asn419His)
c.1210A>C (p.Asn404His)
c.230-1496A>C (n.230-1496A>C)
c.*1298A>C (n.*1298A>C)
c.775A>C (p.Asn259His)
c.364A>C (p.Asn122His)
c.304A>C (p.Asn102His)
c.988A>C (p.Asn330His)
c.958A>C (p.Asn320His)
c.832A>C (p.Asn278His)
c.*290A>C (n.*290A>C)
16g.27362607A>GCA395298164IL4Rc.1255A>G (p.Asn419Asp)
c.1210A>G (p.Asn404Asp)
c.230-1496A>G (n.230-1496A>G)
c.*1298A>G (n.*1298A>G)
c.775A>G (p.Asn259Asp)
c.364A>G (p.Asn122Asp)
c.304A>G (p.Asn102Asp)
c.988A>G (p.Asn330Asp)
c.958A>G (p.Asn320Asp)
c.832A>G (p.Asn278Asp)
c.*290A>G (n.*290A>G)
16g.27362607A>TCA395298166IL4Rc.1255A>T (p.Asn419Tyr)
c.1210A>T (p.Asn404Tyr)
c.230-1496A>T (n.230-1496A>T)
c.*1298A>T (n.*1298A>T)
c.775A>T (p.Asn259Tyr)
c.364A>T (p.Asn122Tyr)
c.304A>T (p.Asn102Tyr)
c.988A>T (p.Asn330Tyr)
c.958A>T (p.Asn320Tyr)
c.832A>T (p.Asn278Tyr)
c.*290A>T (n.*290A>T)
16g.27362608A>CCA395298174IL4Rc.1256A>C (p.Asn419Thr)
c.1211A>C (p.Asn404Thr)
c.230-1495A>C (n.230-1495A>C)
c.*1299A>C (n.*1299A>C)
c.776A>C (p.Asn259Thr)
c.365A>C (p.Asn122Thr)
c.305A>C (p.Asn102Thr)
c.989A>C (p.Asn330Thr)
c.959A>C (p.Asn320Thr)
c.833A>C (p.Asn278Thr)
c.*291A>C (n.*291A>C)
16g.27362608A>GCA395298169IL4Rc.1256A>G (p.Asn419Ser)
c.1211A>G (p.Asn404Ser)
c.230-1495A>G (n.230-1495A>G)
c.*1299A>G (n.*1299A>G)
c.776A>G (p.Asn259Ser)
c.365A>G (p.Asn122Ser)
c.305A>G (p.Asn102Ser)
c.989A>G (p.Asn330Ser)
c.959A>G (p.Asn320Ser)
c.833A>G (p.Asn278Ser)
c.*291A>G (n.*291A>G)
16g.27362608A>TCA395298171IL4Rc.1256A>T (p.Asn419Ile)
c.1211A>T (p.Asn404Ile)
c.230-1495A>T (n.230-1495A>T)
c.*1299A>T (n.*1299A>T)
c.776A>T (p.Asn259Ile)
c.365A>T (p.Asn122Ile)
c.305A>T (p.Asn102Ile)
c.989A>T (p.Asn330Ile)
c.959A>T (p.Asn320Ile)
c.833A>T (p.Asn278Ile)
c.*291A>T (n.*291A>T)
16g.27362609T>ACA395298176IL4Rc.1257T>A (p.Asn419Lys)
c.1212T>A (p.Asn404Lys)
c.230-1494T>A (n.230-1494T>A)
c.*1300T>A (n.*1300T>A)
c.777T>A (p.Asn259Lys)
c.366T>A (p.Asn122Lys)
c.306T>A (p.Asn102Lys)
c.990T>A (p.Asn330Lys)
c.960T>A (p.Asn320Lys)
c.834T>A (p.Asn278Lys)
c.*292T>A (n.*292T>A)
16g.27362609T>CCA494470442IL4Rc.1257T>C (p.Asn419=)
c.1212T>C (p.Asn404=)
c.230-1494T>C (n.230-1494T>C)
c.*1300T>C (n.*1300T>C)
c.777T>C (p.Asn259=)
c.366T>C (p.Asn122=)
c.306T>C (p.Asn102=)
c.990T>C (p.Asn330=)
c.960T>C (p.Asn320=)
c.834T>C (p.Asn278=)
c.*292T>C (n.*292T>C)
16g.27362609T>GCA395298178IL4Rc.1257T>G (p.Asn419Lys)
c.1212T>G (p.Asn404Lys)
c.230-1494T>G (n.230-1494T>G)
c.*1300T>G (n.*1300T>G)
c.777T>G (p.Asn259Lys)
c.366T>G (p.Asn122Lys)
c.306T>G (p.Asn102Lys)
c.990T>G (p.Asn330Lys)
c.960T>G (p.Asn320Lys)
c.834T>G (p.Asn278Lys)
c.*292T>G (n.*292T>G)
16g.27362610G>ACA395298181IL4Rc.1258G>A (p.Gly420Arg)
c.1213G>A (p.Gly405Arg)
c.230-1493G>A (n.230-1493G>A)
c.*1301G>A (n.*1301G>A)
c.778G>A (p.Gly260Arg)
c.367G>A (p.Gly123Arg)
c.307G>A (p.Gly103Arg)
c.991G>A (p.Gly331Arg)
c.961G>A (p.Gly321Arg)
c.835G>A (p.Gly279Arg)
c.*293G>A (n.*293G>A)
16g.27362610G>CCA395298183IL4Rc.1258G>C (p.Gly420Arg)
c.1213G>C (p.Gly405Arg)
c.230-1493G>C (n.230-1493G>C)
c.*1301G>C (n.*1301G>C)
c.778G>C (p.Gly260Arg)
c.367G>C (p.Gly123Arg)
c.307G>C (p.Gly103Arg)
c.991G>C (p.Gly331Arg)
c.961G>C (p.Gly321Arg)
c.835G>C (p.Gly279Arg)
c.*293G>C (n.*293G>C)
dbSNP COSMIC
16g.27362610G=CA2215169529IL4Rc.1258G= (p.Gly420=)
c.1213G= (p.Gly405=)
c.230-1493G= (n.230-1493G=)
c.*1301G= (n.*1301G=)
c.778G= (p.Gly260=)
c.367G= (p.Gly123=)
c.307G= (p.Gly103=)
c.991G= (p.Gly331=)
c.961G= (p.Gly321=)
c.835G= (p.Gly279=)
c.*293G= (n.*293G=)
16g.27362610G>TCA395298185IL4Rc.1258G>T (p.Gly420Trp)
c.1213G>T (p.Gly405Trp)
c.230-1493G>T (n.230-1493G>T)
c.*1301G>T (n.*1301G>T)
c.778G>T (p.Gly260Trp)
c.367G>T (p.Gly123Trp)
c.307G>T (p.Gly103Trp)
c.991G>T (p.Gly331Trp)
c.961G>T (p.Gly321Trp)
c.835G>T (p.Gly279Trp)
c.*293G>T (n.*293G>T)
16g.27362614delCA2632431249IL4Rc.1262del (p.Gly421AlafsTer?)
c.1217del (p.Gly406AlafsTer?)
c.230-1489del (n.230-1489del)
c.*1305del (n.*1305del)
c.782del (p.Gly261AlafsTer?)
c.371del (p.Gly124AlafsTer?)
c.311del (p.Gly104AlafsTer?)
c.995del (p.Gly332AlafsTer?)
c.965del (p.Gly322AlafsTer?)
c.839del (p.Gly280AlafsTer?)
c.*297del (n.*297del)
gnomAD v4
16g.27362611G>ACA395298189IL4Rc.1259G>A (p.Gly420Glu)
c.1214G>A (p.Gly405Glu)
c.230-1492G>A (n.230-1492G>A)
c.*1302G>A (n.*1302G>A)
c.779G>A (p.Gly260Glu)
c.368G>A (p.Gly123Glu)
c.308G>A (p.Gly103Glu)
c.992G>A (p.Gly331Glu)
c.962G>A (p.Gly321Glu)
c.836G>A (p.Gly279Glu)
c.*294G>A (n.*294G>A)
16g.27362611G>CCA395298192IL4Rc.1259G>C (p.Gly420Ala)
c.1214G>C (p.Gly405Ala)
c.230-1492G>C (n.230-1492G>C)
c.*1302G>C (n.*1302G>C)
c.779G>C (p.Gly260Ala)
c.368G>C (p.Gly123Ala)
c.308G>C (p.Gly103Ala)
c.992G>C (p.Gly331Ala)
c.962G>C (p.Gly321Ala)
c.836G>C (p.Gly279Ala)
c.*294G>C (n.*294G>C)
16g.27362611G>TCA395298190IL4Rc.1259G>T (p.Gly420Val)
c.1214G>T (p.Gly405Val)
c.230-1492G>T (n.230-1492G>T)
c.*1302G>T (n.*1302G>T)
c.779G>T (p.Gly260Val)
c.368G>T (p.Gly123Val)
c.308G>T (p.Gly103Val)
c.992G>T (p.Gly331Val)
c.962G>T (p.Gly321Val)
c.836G>T (p.Gly279Val)
c.*294G>T (n.*294G>T)
16g.27362612G>ACA494470450IL4Rc.1260G>A (p.Gly420=)
c.1215G>A (p.Gly405=)
c.230-1491G>A (n.230-1491G>A)
c.*1303G>A (n.*1303G>A)
c.780G>A (p.Gly260=)
c.369G>A (p.Gly123=)
c.309G>A (p.Gly103=)
c.993G>A (p.Gly331=)
c.963G>A (p.Gly321=)
c.837G>A (p.Gly279=)
c.*295G>A (n.*295G>A)
dbSNP gnomAD v2 gnomAD v4
16g.27362612G>CCA494470444IL4Rc.1260G>C (p.Gly420=)
c.1215G>C (p.Gly405=)
c.230-1491G>C (n.230-1491G>C)
c.*1303G>C (n.*1303G>C)
c.780G>C (p.Gly260=)
c.369G>C (p.Gly123=)
c.309G>C (p.Gly103=)
c.993G>C (p.Gly331=)
c.963G>C (p.Gly321=)
c.837G>C (p.Gly279=)
c.*295G>C (n.*295G>C)
16g.27362612G=CA2215169532IL4Rc.1260G= (p.Gly420=)
c.1215G= (p.Gly405=)
c.230-1491G= (n.230-1491G=)
c.*1303G= (n.*1303G=)
c.780G= (p.Gly260=)
c.369G= (p.Gly123=)
c.309G= (p.Gly103=)
c.993G= (p.Gly331=)
c.963G= (p.Gly321=)
c.837G= (p.Gly279=)
c.*295G= (n.*295G=)
16g.27362612G>TCA7974526IL4Rc.1260G>T (p.Gly420=)
c.1215G>T (p.Gly405=)
c.230-1491G>T (n.230-1491G>T)
c.*1303G>T (n.*1303G>T)
c.780G>T (p.Gly260=)
c.369G>T (p.Gly123=)
c.309G>T (p.Gly103=)
c.993G>T (p.Gly331=)
c.963G>T (p.Gly321=)
c.837G>T (p.Gly279=)
c.*295G>T (n.*295G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362613G>ACA395298200IL4Rc.1261G>A (p.Gly421Ser)
c.1216G>A (p.Gly406Ser)
c.230-1490G>A (n.230-1490G>A)
c.*1304G>A (n.*1304G>A)
c.781G>A (p.Gly261Ser)
c.370G>A (p.Gly124Ser)
c.310G>A (p.Gly104Ser)
c.994G>A (p.Gly332Ser)
c.964G>A (p.Gly322Ser)
c.838G>A (p.Gly280Ser)
c.*296G>A (n.*296G>A)
dbSNP gnomAD v2 gnomAD v4
16g.27362613G>CCA395298196IL4Rc.1261G>C (p.Gly421Arg)
c.1216G>C (p.Gly406Arg)
c.230-1490G>C (n.230-1490G>C)
c.*1304G>C (n.*1304G>C)
c.781G>C (p.Gly261Arg)
c.370G>C (p.Gly124Arg)
c.310G>C (p.Gly104Arg)
c.994G>C (p.Gly332Arg)
c.964G>C (p.Gly322Arg)
c.838G>C (p.Gly280Arg)
c.*296G>C (n.*296G>C)
16g.27362613G=CA2215169535IL4Rc.1261G= (p.Gly421=)
c.1216G= (p.Gly406=)
c.230-1490G= (n.230-1490G=)
c.*1304G= (n.*1304G=)
c.781G= (p.Gly261=)
c.370G= (p.Gly124=)
c.310G= (p.Gly104=)
c.994G= (p.Gly332=)
c.964G= (p.Gly322=)
c.838G= (p.Gly280=)
c.*296G= (n.*296G=)
16g.27362613G>TCA395298197IL4Rc.1261G>T (p.Gly421Cys)
c.1216G>T (p.Gly406Cys)
c.230-1490G>T (n.230-1490G>T)
c.*1304G>T (n.*1304G>T)
c.781G>T (p.Gly261Cys)
c.370G>T (p.Gly124Cys)
c.310G>T (p.Gly104Cys)
c.994G>T (p.Gly332Cys)
c.964G>T (p.Gly322Cys)
c.838G>T (p.Gly280Cys)
c.*296G>T (n.*296G>T)
16g.27362614G>ACA395298202IL4Rc.1262G>A (p.Gly421Asp)
c.1217G>A (p.Gly406Asp)
c.230-1489G>A (n.230-1489G>A)
c.*1305G>A (n.*1305G>A)
c.782G>A (p.Gly261Asp)
c.371G>A (p.Gly124Asp)
c.311G>A (p.Gly104Asp)
c.995G>A (p.Gly332Asp)
c.965G>A (p.Gly322Asp)
c.839G>A (p.Gly280Asp)
c.*297G>A (n.*297G>A)
16g.27362614G>CCA395298204IL4Rc.1262G>C (p.Gly421Ala)
c.1217G>C (p.Gly406Ala)
c.230-1489G>C (n.230-1489G>C)
c.*1305G>C (n.*1305G>C)
c.782G>C (p.Gly261Ala)
c.371G>C (p.Gly124Ala)
c.311G>C (p.Gly104Ala)
c.995G>C (p.Gly332Ala)
c.965G>C (p.Gly322Ala)
c.839G>C (p.Gly280Ala)
c.*297G>C (n.*297G>C)
16g.27362614G>TCA395298206IL4Rc.1262G>T (p.Gly421Val)
c.1217G>T (p.Gly406Val)
c.230-1489G>T (n.230-1489G>T)
c.*1305G>T (n.*1305G>T)
c.782G>T (p.Gly261Val)
c.371G>T (p.Gly124Val)
c.311G>T (p.Gly104Val)
c.995G>T (p.Gly332Val)
c.965G>T (p.Gly322Val)
c.839G>T (p.Gly280Val)
c.*297G>T (n.*297G>T)
16g.27362615C>ACA494470455IL4Rc.1263C>A (p.Gly421=)
c.1218C>A (p.Gly406=)
c.230-1488C>A (n.230-1488C>A)
c.*1306C>A (n.*1306C>A)
c.783C>A (p.Gly261=)
c.372C>A (p.Gly124=)
c.312C>A (p.Gly104=)
c.996C>A (p.Gly332=)
c.966C>A (p.Gly322=)
c.840C>A (p.Gly280=)
c.*298C>A (n.*298C>A)
16g.27362615C>GCA494470456IL4Rc.1263C>G (p.Gly421=)
c.1218C>G (p.Gly406=)
c.230-1488C>G (n.230-1488C>G)
c.*1306C>G (n.*1306C>G)
c.783C>G (p.Gly261=)
c.372C>G (p.Gly124=)
c.312C>G (p.Gly104=)
c.996C>G (p.Gly332=)
c.966C>G (p.Gly322=)
c.840C>G (p.Gly280=)
c.*298C>G (n.*298C>G)
16g.27362615C>TCA494470457IL4Rc.1263C>T (p.Gly421=)
c.1218C>T (p.Gly406=)
c.230-1488C>T (n.230-1488C>T)
c.*1306C>T (n.*1306C>T)
c.783C>T (p.Gly261=)
c.372C>T (p.Gly124=)
c.312C>T (p.Gly104=)
c.996C>T (p.Gly332=)
c.966C>T (p.Gly322=)
c.840C>T (p.Gly280=)
c.*298C>T (n.*298C>T)
16g.27362616T>ACA395298208IL4Rc.1264T>A (p.Phe422Ile)
c.1219T>A (p.Phe407Ile)
c.230-1487T>A (n.230-1487T>A)
c.*1307T>A (n.*1307T>A)
c.784T>A (p.Phe262Ile)
c.373T>A (p.Phe125Ile)
c.313T>A (p.Phe105Ile)
c.997T>A (p.Phe333Ile)
c.967T>A (p.Phe323Ile)
c.841T>A (p.Phe281Ile)
c.*299T>A (n.*299T>A)
16g.27362616T>CCA395298210IL4Rc.1264T>C (p.Phe422Leu)
c.1219T>C (p.Phe407Leu)
c.230-1487T>C (n.230-1487T>C)
c.*1307T>C (n.*1307T>C)
c.784T>C (p.Phe262Leu)
c.373T>C (p.Phe125Leu)
c.313T>C (p.Phe105Leu)
c.997T>C (p.Phe333Leu)
c.967T>C (p.Phe323Leu)
c.841T>C (p.Phe281Leu)
c.*299T>C (n.*299T>C)
16g.27362616T>GCA395298212IL4Rc.1264T>G (p.Phe422Val)
c.1219T>G (p.Phe407Val)
c.230-1487T>G (n.230-1487T>G)
c.*1307T>G (n.*1307T>G)
c.784T>G (p.Phe262Val)
c.373T>G (p.Phe125Val)
c.313T>G (p.Phe105Val)
c.997T>G (p.Phe333Val)
c.967T>G (p.Phe323Val)
c.841T>G (p.Phe281Val)
c.*299T>G (n.*299T>G)
16g.27362617T>ACA395298215IL4Rc.1265T>A (p.Phe422Tyr)
c.1220T>A (p.Phe407Tyr)
c.230-1486T>A (n.230-1486T>A)
c.*1308T>A (n.*1308T>A)
c.785T>A (p.Phe262Tyr)
c.374T>A (p.Phe125Tyr)
c.314T>A (p.Phe105Tyr)
c.998T>A (p.Phe333Tyr)
c.968T>A (p.Phe323Tyr)
c.842T>A (p.Phe281Tyr)
c.*300T>A (n.*300T>A)
16g.27362617T>CCA395298216IL4Rc.1265T>C (p.Phe422Ser)
c.1220T>C (p.Phe407Ser)
c.230-1486T>C (n.230-1486T>C)
c.*1308T>C (n.*1308T>C)
c.785T>C (p.Phe262Ser)
c.374T>C (p.Phe125Ser)
c.314T>C (p.Phe105Ser)
c.998T>C (p.Phe333Ser)
c.968T>C (p.Phe323Ser)
c.842T>C (p.Phe281Ser)
c.*300T>C (n.*300T>C)
16g.27362617T>GCA395298218IL4Rc.1265T>G (p.Phe422Cys)
c.1220T>G (p.Phe407Cys)
c.230-1486T>G (n.230-1486T>G)
c.*1308T>G (n.*1308T>G)
c.785T>G (p.Phe262Cys)
c.374T>G (p.Phe125Cys)
c.314T>G (p.Phe105Cys)
c.998T>G (p.Phe333Cys)
c.968T>G (p.Phe323Cys)
c.842T>G (p.Phe281Cys)
c.*300T>G (n.*300T>G)
16g.27362618T>ACA395298221IL4Rc.1266T>A (p.Phe422Leu)
c.1221T>A (p.Phe407Leu)
c.230-1485T>A (n.230-1485T>A)
c.*1309T>A (n.*1309T>A)
c.786T>A (p.Phe262Leu)
c.375T>A (p.Phe125Leu)
c.315T>A (p.Phe105Leu)
c.999T>A (p.Phe333Leu)
c.969T>A (p.Phe323Leu)
c.843T>A (p.Phe281Leu)
c.*301T>A (n.*301T>A)
16g.27362618T>CCA494470462IL4Rc.1266T>C (p.Phe422=)
c.1221T>C (p.Phe407=)
c.230-1485T>C (n.230-1485T>C)
c.*1309T>C (n.*1309T>C)
c.786T>C (p.Phe262=)
c.375T>C (p.Phe125=)
c.315T>C (p.Phe105=)
c.999T>C (p.Phe333=)
c.969T>C (p.Phe323=)
c.843T>C (p.Phe281=)
c.*301T>C (n.*301T>C)
16g.27362618T>GCA395298222IL4Rc.1266T>G (p.Phe422Leu)
c.1221T>G (p.Phe407Leu)
c.230-1485T>G (n.230-1485T>G)
c.*1309T>G (n.*1309T>G)
c.786T>G (p.Phe262Leu)
c.375T>G (p.Phe125Leu)
c.315T>G (p.Phe105Leu)
c.999T>G (p.Phe333Leu)
c.969T>G (p.Phe323Leu)
c.843T>G (p.Phe281Leu)
c.*301T>G (n.*301T>G)
16g.27362619T>ACA395298225IL4Rc.1267T>A (p.Cys423Ser)
c.1222T>A (p.Cys408Ser)
c.230-1484T>A (n.230-1484T>A)
c.*1310T>A (n.*1310T>A)
c.787T>A (p.Cys263Ser)
c.376T>A (p.Cys126Ser)
c.316T>A (p.Cys106Ser)
c.1000T>A (p.Cys334Ser)
c.970T>A (p.Cys324Ser)
c.844T>A (p.Cys282Ser)
c.*302T>A (n.*302T>A)
16g.27362619T>CCA395298226IL4Rc.1267T>C (p.Cys423Arg)
c.1222T>C (p.Cys408Arg)
c.230-1484T>C (n.230-1484T>C)
c.*1310T>C (n.*1310T>C)
c.787T>C (p.Cys263Arg)
c.376T>C (p.Cys126Arg)
c.316T>C (p.Cys106Arg)
c.1000T>C (p.Cys334Arg)
c.970T>C (p.Cys324Arg)
c.844T>C (p.Cys282Arg)
c.*302T>C (n.*302T>C)
16g.27362619T>GCA7974527IL4Rc.1267T>G (p.Cys423Gly)
c.1222T>G (p.Cys408Gly)
c.230-1484T>G (n.230-1484T>G)
c.*1310T>G (n.*1310T>G)
c.787T>G (p.Cys263Gly)
c.376T>G (p.Cys126Gly)
c.316T>G (p.Cys106Gly)
c.1000T>G (p.Cys334Gly)
c.970T>G (p.Cys324Gly)
c.844T>G (p.Cys282Gly)
c.*302T>G (n.*302T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362619T=CA2215169537IL4Rc.1267T= (p.Cys423=)
c.1222T= (p.Cys408=)
c.230-1484T= (n.230-1484T=)
c.*1310T= (n.*1310T=)
c.787T= (p.Cys263=)
c.376T= (p.Cys126=)
c.316T= (p.Cys106=)
c.1000T= (p.Cys334=)
c.970T= (p.Cys324=)
c.844T= (p.Cys282=)
c.*302T= (n.*302T=)
16g.27362620G>ACA395298229IL4Rc.1268G>A (p.Cys423Tyr)
c.1223G>A (p.Cys408Tyr)
c.230-1483G>A (n.230-1483G>A)
c.*1311G>A (n.*1311G>A)
c.788G>A (p.Cys263Tyr)
c.377G>A (p.Cys126Tyr)
c.317G>A (p.Cys106Tyr)
c.1001G>A (p.Cys334Tyr)
c.971G>A (p.Cys324Tyr)
c.845G>A (p.Cys282Tyr)
c.*303G>A (n.*303G>A)
16g.27362620G>CCA395298231IL4Rc.1268G>C (p.Cys423Ser)
c.1223G>C (p.Cys408Ser)
c.230-1483G>C (n.230-1483G>C)
c.*1311G>C (n.*1311G>C)
c.788G>C (p.Cys263Ser)
c.377G>C (p.Cys126Ser)
c.317G>C (p.Cys106Ser)
c.1001G>C (p.Cys334Ser)
c.971G>C (p.Cys324Ser)
c.845G>C (p.Cys282Ser)
c.*303G>C (n.*303G>C)
16g.27362620G>TCA395298233IL4Rc.1268G>T (p.Cys423Phe)
c.1223G>T (p.Cys408Phe)
c.230-1483G>T (n.230-1483G>T)
c.*1311G>T (n.*1311G>T)
c.788G>T (p.Cys263Phe)
c.377G>T (p.Cys126Phe)
c.317G>T (p.Cys106Phe)
c.1001G>T (p.Cys334Phe)
c.971G>T (p.Cys324Phe)
c.845G>T (p.Cys282Phe)
c.*303G>T (n.*303G>T)
16g.27362621C>ACA395298237IL4Rc.1269C>A (p.Cys423Ter)
c.1224C>A (p.Cys408Ter)
c.230-1482C>A (n.230-1482C>A)
c.*1312C>A (n.*1312C>A)
c.789C>A (p.Cys263Ter)
c.378C>A (p.Cys126Ter)
c.318C>A (p.Cys106Ter)
c.1002C>A (p.Cys334Ter)
c.972C>A (p.Cys324Ter)
c.846C>A (p.Cys282Ter)
c.*304C>A (n.*304C>A)
16g.27362621C=CA2215169541IL4Rc.1269C= (p.Cys423=)
c.1224C= (p.Cys408=)
c.230-1482C= (n.230-1482C=)
c.*1312C= (n.*1312C=)
c.789C= (p.Cys263=)
c.378C= (p.Cys126=)
c.318C= (p.Cys106=)
c.1002C= (p.Cys334=)
c.972C= (p.Cys324=)
c.846C= (p.Cys282=)
c.*304C= (n.*304C=)
16g.27362621C>GCA395298239IL4Rc.1269C>G (p.Cys423Trp)
c.1224C>G (p.Cys408Trp)
c.230-1482C>G (n.230-1482C>G)
c.*1312C>G (n.*1312C>G)
c.789C>G (p.Cys263Trp)
c.378C>G (p.Cys126Trp)
c.318C>G (p.Cys106Trp)
c.1002C>G (p.Cys334Trp)
c.972C>G (p.Cys324Trp)
c.846C>G (p.Cys282Trp)
c.*304C>G (n.*304C>G)
16g.27362621C>TCA494470467IL4Rc.1269C>T (p.Cys423=)
c.1224C>T (p.Cys408=)
c.230-1482C>T (n.230-1482C>T)
c.*1312C>T (n.*1312C>T)
c.789C>T (p.Cys263=)
c.378C>T (p.Cys126=)
c.318C>T (p.Cys106=)
c.1002C>T (p.Cys334=)
c.972C>T (p.Cys324=)
c.846C>T (p.Cys282=)
c.*304C>T (n.*304C>T)
dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.27362622C>ACA395298242IL4Rc.1270C>A (p.Gln424Lys)
c.1225C>A (p.Gln409Lys)
c.230-1481C>A (n.230-1481C>A)
c.*1313C>A (n.*1313C>A)
c.790C>A (p.Gln264Lys)
c.379C>A (p.Gln127Lys)
c.319C>A (p.Gln107Lys)
c.1003C>A (p.Gln335Lys)
c.973C>A (p.Gln325Lys)
c.847C>A (p.Gln283Lys)
c.*305C>A (n.*305C>A)
16g.27362622C>GCA395298244IL4Rc.1270C>G (p.Gln424Glu)
c.1225C>G (p.Gln409Glu)
c.230-1481C>G (n.230-1481C>G)
c.*1313C>G (n.*1313C>G)
c.790C>G (p.Gln264Glu)
c.379C>G (p.Gln127Glu)
c.319C>G (p.Gln107Glu)
c.1003C>G (p.Gln335Glu)
c.973C>G (p.Gln325Glu)
c.847C>G (p.Gln283Glu)
c.*305C>G (n.*305C>G)
16g.27362622C>TCA395298246IL4Rc.1270C>T (p.Gln424Ter)
c.1225C>T (p.Gln409Ter)
c.230-1481C>T (n.230-1481C>T)
c.*1313C>T (n.*1313C>T)
c.790C>T (p.Gln264Ter)
c.379C>T (p.Gln127Ter)
c.319C>T (p.Gln107Ter)
c.1003C>T (p.Gln335Ter)
c.973C>T (p.Gln325Ter)
c.847C>T (p.Gln283Ter)
c.*305C>T (n.*305C>T)
16g.27362623A>CCA395298248IL4Rc.1271A>C (p.Gln424Pro)
c.1226A>C (p.Gln409Pro)
c.230-1480A>C (n.230-1480A>C)
c.*1314A>C (n.*1314A>C)
c.791A>C (p.Gln264Pro)
c.380A>C (p.Gln127Pro)
c.320A>C (p.Gln107Pro)
c.1004A>C (p.Gln335Pro)
c.974A>C (p.Gln325Pro)
c.848A>C (p.Gln283Pro)
c.*306A>C (n.*306A>C)
16g.27362623A>GCA395298250IL4Rc.1271A>G (p.Gln424Arg)
c.1226A>G (p.Gln409Arg)
c.230-1480A>G (n.230-1480A>G)
c.*1314A>G (n.*1314A>G)
c.791A>G (p.Gln264Arg)
c.380A>G (p.Gln127Arg)
c.320A>G (p.Gln107Arg)
c.1004A>G (p.Gln335Arg)
c.974A>G (p.Gln325Arg)
c.848A>G (p.Gln283Arg)
c.*306A>G (n.*306A>G)
gnomAD v4
16g.27362623A>TCA395298252IL4Rc.1271A>T (p.Gln424Leu)
c.1226A>T (p.Gln409Leu)
c.230-1480A>T (n.230-1480A>T)
c.*1314A>T (n.*1314A>T)
c.791A>T (p.Gln264Leu)
c.380A>T (p.Gln127Leu)
c.320A>T (p.Gln107Leu)
c.1004A>T (p.Gln335Leu)
c.974A>T (p.Gln325Leu)
c.848A>T (p.Gln283Leu)
c.*306A>T (n.*306A>T)
16g.27362624G>ACA279686553IL4Rc.1272G>A (p.Gln424=)
c.1227G>A (p.Gln409=)
c.230-1479G>A (n.230-1479G>A)
c.*1315G>A (n.*1315G>A)
c.792G>A (p.Gln264=)
c.381G>A (p.Gln127=)
c.321G>A (p.Gln107=)
c.1005G>A (p.Gln335=)
c.975G>A (p.Gln325=)
c.849G>A (p.Gln283=)
c.*307G>A (n.*307G>A)
dbSNP gnomAD v2 gnomAD v4
16g.27362624G>CCA395298257IL4Rc.1272G>C (p.Gln424His)
c.1227G>C (p.Gln409His)
c.230-1479G>C (n.230-1479G>C)
c.*1315G>C (n.*1315G>C)
c.792G>C (p.Gln264His)
c.381G>C (p.Gln127His)
c.321G>C (p.Gln107His)
c.1005G>C (p.Gln335His)
c.975G>C (p.Gln325His)
c.849G>C (p.Gln283His)
c.*307G>C (n.*307G>C)
16g.27362624G=CA2215169543IL4Rc.1272G= (p.Gln424=)
c.1227G= (p.Gln409=)
c.230-1479G= (n.230-1479G=)
c.*1315G= (n.*1315G=)
c.792G= (p.Gln264=)
c.381G= (p.Gln127=)
c.321G= (p.Gln107=)
c.1005G= (p.Gln335=)
c.975G= (p.Gln325=)
c.849G= (p.Gln283=)
c.*307G= (n.*307G=)
16g.27362624G>TCA395298255IL4Rc.1272G>T (p.Gln424His)
c.1227G>T (p.Gln409His)
c.230-1479G>T (n.230-1479G>T)
c.*1315G>T (n.*1315G>T)
c.792G>T (p.Gln264His)
c.381G>T (p.Gln127His)
c.321G>T (p.Gln107His)
c.1005G>T (p.Gln335His)
c.975G>T (p.Gln325His)
c.849G>T (p.Gln283His)
c.*307G>T (n.*307G>T)
16g.27362625C>ACA395298260IL4Rc.1273C>A (p.Gln425Lys)
c.1228C>A (p.Gln410Lys)
c.230-1478C>A (n.230-1478C>A)
c.*1316C>A (n.*1316C>A)
c.793C>A (p.Gln265Lys)
c.382C>A (p.Gln128Lys)
c.322C>A (p.Gln108Lys)
c.1006C>A (p.Gln336Lys)
c.976C>A (p.Gln326Lys)
c.850C>A (p.Gln284Lys)
c.*308C>A (n.*308C>A)
16g.27362625C>GCA395298262IL4Rc.1273C>G (p.Gln425Glu)
c.1228C>G (p.Gln410Glu)
c.230-1478C>G (n.230-1478C>G)
c.*1316C>G (n.*1316C>G)
c.793C>G (p.Gln265Glu)
c.382C>G (p.Gln128Glu)
c.322C>G (p.Gln108Glu)
c.1006C>G (p.Gln336Glu)
c.976C>G (p.Gln326Glu)
c.850C>G (p.Gln284Glu)
c.*308C>G (n.*308C>G)
16g.27362625C>TCA395298264IL4Rc.1273C>T (p.Gln425Ter)
c.1228C>T (p.Gln410Ter)
c.230-1478C>T (n.230-1478C>T)
c.*1316C>T (n.*1316C>T)
c.793C>T (p.Gln265Ter)
c.382C>T (p.Gln128Ter)
c.322C>T (p.Gln108Ter)
c.1006C>T (p.Gln336Ter)
c.976C>T (p.Gln326Ter)
c.850C>T (p.Gln284Ter)
c.*308C>T (n.*308C>T)
16g.27362626A>CCA395298267IL4Rc.1274A>C (p.Gln425Pro)
c.1229A>C (p.Gln410Pro)
c.230-1477A>C (n.230-1477A>C)
c.*1317A>C (n.*1317A>C)
c.794A>C (p.Gln265Pro)
c.383A>C (p.Gln128Pro)
c.323A>C (p.Gln108Pro)
c.1007A>C (p.Gln336Pro)
c.977A>C (p.Gln326Pro)
c.851A>C (p.Gln284Pro)
c.*309A>C (n.*309A>C)
16g.27362626A>GCA395298269IL4Rc.1274A>G (p.Gln425Arg)
c.1229A>G (p.Gln410Arg)
c.230-1477A>G (n.230-1477A>G)
c.*1317A>G (n.*1317A>G)
c.794A>G (p.Gln265Arg)
c.383A>G (p.Gln128Arg)
c.323A>G (p.Gln108Arg)
c.1007A>G (p.Gln336Arg)
c.977A>G (p.Gln326Arg)
c.851A>G (p.Gln284Arg)
c.*309A>G (n.*309A>G)
gnomAD v4
16g.27362626A>TCA395298271IL4Rc.1274A>T (p.Gln425Leu)
c.1229A>T (p.Gln410Leu)
c.230-1477A>T (n.230-1477A>T)
c.*1317A>T (n.*1317A>T)
c.794A>T (p.Gln265Leu)
c.383A>T (p.Gln128Leu)
c.323A>T (p.Gln108Leu)
c.1007A>T (p.Gln336Leu)
c.977A>T (p.Gln326Leu)
c.851A>T (p.Gln284Leu)
c.*309A>T (n.*309A>T)
16g.27362627G>ACA494470485IL4Rc.1275G>A (p.Gln425=)
c.1230G>A (p.Gln410=)
c.230-1476G>A (n.230-1476G>A)
c.*1318G>A (n.*1318G>A)
c.795G>A (p.Gln265=)
c.384G>A (p.Gln128=)
c.324G>A (p.Gln108=)
c.1008G>A (p.Gln336=)
c.978G>A (p.Gln326=)
c.852G>A (p.Gln284=)
c.*310G>A (n.*310G>A)
16g.27362627G>CCA395298274IL4Rc.1275G>C (p.Gln425His)
c.1230G>C (p.Gln410His)
c.230-1476G>C (n.230-1476G>C)
c.*1318G>C (n.*1318G>C)
c.795G>C (p.Gln265His)
c.384G>C (p.Gln128His)
c.324G>C (p.Gln108His)
c.1008G>C (p.Gln336His)
c.978G>C (p.Gln326His)
c.852G>C (p.Gln284His)
c.*310G>C (n.*310G>C)
16g.27362627G>TCA395298275IL4Rc.1275G>T (p.Gln425His)
c.1230G>T (p.Gln410His)
c.230-1476G>T (n.230-1476G>T)
c.*1318G>T (n.*1318G>T)
c.795G>T (p.Gln265His)
c.384G>T (p.Gln128His)
c.324G>T (p.Gln108His)
c.1008G>T (p.Gln336His)
c.978G>T (p.Gln326His)
c.852G>T (p.Gln284His)
c.*310G>T (n.*310G>T)
16g.27362628G>ACA395298278IL4Rc.1276G>A (p.Asp426Asn)
c.1231G>A (p.Asp411Asn)
c.230-1475G>A (n.230-1475G>A)
c.*1319G>A (n.*1319G>A)
c.796G>A (p.Asp266Asn)
c.385G>A (p.Asp129Asn)
c.325G>A (p.Asp109Asn)
c.1009G>A (p.Asp337Asn)
c.979G>A (p.Asp327Asn)
c.853G>A (p.Asp285Asn)
c.*311G>A (n.*311G>A)
gnomAD v4
16g.27362628G>CCA395298280IL4Rc.1276G>C (p.Asp426His)
c.1231G>C (p.Asp411His)
c.230-1475G>C (n.230-1475G>C)
c.*1319G>C (n.*1319G>C)
c.796G>C (p.Asp266His)
c.385G>C (p.Asp129His)
c.325G>C (p.Asp109His)
c.1009G>C (p.Asp337His)
c.979G>C (p.Asp327His)
c.853G>C (p.Asp285His)
c.*311G>C (n.*311G>C)
dbSNP gnomAD v2 gnomAD v4
16g.27362628G=CA2215169546IL4Rc.1276G= (p.Asp426=)
c.1231G= (p.Asp411=)
c.230-1475G= (n.230-1475G=)
c.*1319G= (n.*1319G=)
c.796G= (p.Asp266=)
c.385G= (p.Asp129=)
c.325G= (p.Asp109=)
c.1009G= (p.Asp337=)
c.979G= (p.Asp327=)
c.853G= (p.Asp285=)
c.*311G= (n.*311G=)
16g.27362628G>TCA395298282IL4Rc.1276G>T (p.Asp426Tyr)
c.1231G>T (p.Asp411Tyr)
c.230-1475G>T (n.230-1475G>T)
c.*1319G>T (n.*1319G>T)
c.796G>T (p.Asp266Tyr)
c.385G>T (p.Asp129Tyr)
c.325G>T (p.Asp109Tyr)
c.1009G>T (p.Asp337Tyr)
c.979G>T (p.Asp327Tyr)
c.853G>T (p.Asp285Tyr)
c.*311G>T (n.*311G>T)
gnomAD v4
16g.27362629A=CA2215169549IL4Rc.1277A= (p.Asp426=)
c.1232A= (p.Asp411=)
c.230-1474A= (n.230-1474A=)
c.*1320A= (n.*1320A=)
c.797A= (p.Asp266=)
c.386A= (p.Asp129=)
c.326A= (p.Asp109=)
c.1010A= (p.Asp337=)
c.980A= (p.Asp327=)
c.854A= (p.Asp285=)
c.*312A= (n.*312A=)
16g.27362629A>CCA395298284IL4Rc.1277A>C (p.Asp426Ala)
c.1232A>C (p.Asp411Ala)
c.230-1474A>C (n.230-1474A>C)
c.*1320A>C (n.*1320A>C)
c.797A>C (p.Asp266Ala)
c.386A>C (p.Asp129Ala)
c.326A>C (p.Asp109Ala)
c.1010A>C (p.Asp337Ala)
c.980A>C (p.Asp327Ala)
c.854A>C (p.Asp285Ala)
c.*312A>C (n.*312A>C)
gnomAD v4
16g.27362629A>GCA395298286IL4Rc.1277A>G (p.Asp426Gly)
c.1232A>G (p.Asp411Gly)
c.230-1474A>G (n.230-1474A>G)
c.*1320A>G (n.*1320A>G)
c.797A>G (p.Asp266Gly)
c.386A>G (p.Asp129Gly)
c.326A>G (p.Asp109Gly)
c.1010A>G (p.Asp337Gly)
c.980A>G (p.Asp327Gly)
c.854A>G (p.Asp285Gly)
c.*312A>G (n.*312A>G)
16g.27362629A>TCA395298289IL4Rc.1277A>T (p.Asp426Val)
c.1232A>T (p.Asp411Val)
c.230-1474A>T (n.230-1474A>T)
c.*1320A>T (n.*1320A>T)
c.797A>T (p.Asp266Val)
c.386A>T (p.Asp129Val)
c.326A>T (p.Asp109Val)
c.1010A>T (p.Asp337Val)
c.980A>T (p.Asp327Val)
c.854A>T (p.Asp285Val)
c.*312A>T (n.*312A>T)
dbSNP gnomAD v2
16g.27362630C>ACA395298292IL4Rc.1278C>A (p.Asp426Glu)
c.1233C>A (p.Asp411Glu)
c.230-1473C>A (n.230-1473C>A)
c.*1321C>A (n.*1321C>A)
c.798C>A (p.Asp266Glu)
c.387C>A (p.Asp129Glu)
c.327C>A (p.Asp109Glu)
c.1011C>A (p.Asp337Glu)
c.981C>A (p.Asp327Glu)
c.855C>A (p.Asp285Glu)
c.*313C>A (n.*313C>A)
16g.27362630C=CA2215169557IL4Rc.1278C= (p.Asp426=)
c.1233C= (p.Asp411=)
c.230-1473C= (n.230-1473C=)
c.*1321C= (n.*1321C=)
c.798C= (p.Asp266=)
c.387C= (p.Asp129=)
c.327C= (p.Asp109=)
c.1011C= (p.Asp337=)
c.981C= (p.Asp327=)
c.855C= (p.Asp285=)
c.*313C= (n.*313C=)
16g.27362630C>GCA395298293IL4Rc.1278C>G (p.Asp426Glu)
c.1233C>G (p.Asp411Glu)
c.230-1473C>G (n.230-1473C>G)
c.*1321C>G (n.*1321C>G)
c.798C>G (p.Asp266Glu)
c.387C>G (p.Asp129Glu)
c.327C>G (p.Asp109Glu)
c.1011C>G (p.Asp337Glu)
c.981C>G (p.Asp327Glu)
c.855C>G (p.Asp285Glu)
c.*313C>G (n.*313C>G)
16g.27362630C>TCA494470489IL4Rc.1278C>T (p.Asp426=)
c.1233C>T (p.Asp411=)
c.230-1473C>T (n.230-1473C>T)
c.*1321C>T (n.*1321C>T)
c.798C>T (p.Asp266=)
c.387C>T (p.Asp129=)
c.327C>T (p.Asp109=)
c.1011C>T (p.Asp337=)
c.981C>T (p.Asp327=)
c.855C>T (p.Asp285=)
c.*313C>T (n.*313C>T)
dbSNP gnomAD v2 gnomAD v4
16g.27362631A=CA2215169558IL4Rc.1279A= (p.Met427=)
c.1234A= (p.Met412=)
c.230-1472A= (n.230-1472A=)
c.*1322A= (n.*1322A=)
c.799A= (p.Met267=)
c.388A= (p.Met130=)
c.328A= (p.Met110=)
c.1012A= (p.Met338=)
c.982A= (p.Met328=)
c.856A= (p.Met286=)
c.*314A= (n.*314A=)
16g.27362631A>CCA395298295IL4Rc.1279A>C (p.Met427Leu)
c.1234A>C (p.Met412Leu)
c.230-1472A>C (n.230-1472A>C)
c.*1322A>C (n.*1322A>C)
c.799A>C (p.Met267Leu)
c.388A>C (p.Met130Leu)
c.328A>C (p.Met110Leu)
c.1012A>C (p.Met338Leu)
c.982A>C (p.Met328Leu)
c.856A>C (p.Met286Leu)
c.*314A>C (n.*314A>C)
16g.27362631A>GCA395298296IL4Rc.1279A>G (p.Met427Val)
c.1234A>G (p.Met412Val)
c.230-1472A>G (n.230-1472A>G)
c.*1322A>G (n.*1322A>G)
c.799A>G (p.Met267Val)
c.388A>G (p.Met130Val)
c.328A>G (p.Met110Val)
c.1012A>G (p.Met338Val)
c.982A>G (p.Met328Val)
c.856A>G (p.Met286Val)
c.*314A>G (n.*314A>G)
dbSNP gnomAD v4
16g.27362631A>TCA395298299IL4Rc.1279A>T (p.Met427Leu)
c.1234A>T (p.Met412Leu)
c.230-1472A>T (n.230-1472A>T)
c.*1322A>T (n.*1322A>T)
c.799A>T (p.Met267Leu)
c.388A>T (p.Met130Leu)
c.328A>T (p.Met110Leu)
c.1012A>T (p.Met338Leu)
c.982A>T (p.Met328Leu)
c.856A>T (p.Met286Leu)
c.*314A>T (n.*314A>T)
16g.27362632T>ACA395298301IL4Rc.1280T>A (p.Met427Lys)
c.1235T>A (p.Met412Lys)
c.230-1471T>A (n.230-1471T>A)
c.*1323T>A (n.*1323T>A)
c.800T>A (p.Met267Lys)
c.389T>A (p.Met130Lys)
c.329T>A (p.Met110Lys)
c.1013T>A (p.Met338Lys)
c.983T>A (p.Met328Lys)
c.857T>A (p.Met286Lys)
c.*315T>A (n.*315T>A)
16g.27362632T>CCA395298303IL4Rc.1280T>C (p.Met427Thr)
c.1235T>C (p.Met412Thr)
c.230-1471T>C (n.230-1471T>C)
c.*1323T>C (n.*1323T>C)
c.800T>C (p.Met267Thr)
c.389T>C (p.Met130Thr)
c.329T>C (p.Met110Thr)
c.1013T>C (p.Met338Thr)
c.983T>C (p.Met328Thr)
c.857T>C (p.Met286Thr)
c.*315T>C (n.*315T>C)
dbSNP gnomAD v3 gnomAD v4
16g.27362632T>GCA395298306IL4Rc.1280T>G (p.Met427Arg)
c.1235T>G (p.Met412Arg)
c.230-1471T>G (n.230-1471T>G)
c.*1323T>G (n.*1323T>G)
c.800T>G (p.Met267Arg)
c.389T>G (p.Met130Arg)
c.329T>G (p.Met110Arg)
c.1013T>G (p.Met338Arg)
c.983T>G (p.Met328Arg)
c.857T>G (p.Met286Arg)
c.*315T>G (n.*315T>G)
16g.27362632T=CA2215169559IL4Rc.1280T= (p.Met427=)
c.1235T= (p.Met412=)
c.230-1471T= (n.230-1471T=)
c.*1323T= (n.*1323T=)
c.800T= (p.Met267=)
c.389T= (p.Met130=)
c.329T= (p.Met110=)
c.1013T= (p.Met338=)
c.983T= (p.Met328=)
c.857T= (p.Met286=)
c.*315T= (n.*315T=)
16g.27362633G>ACA395298309IL4Rc.1281G>A (p.Met427Ile)
c.1236G>A (p.Met412Ile)
c.230-1470G>A (n.230-1470G>A)
c.*1324G>A (n.*1324G>A)
c.801G>A (p.Met267Ile)
c.390G>A (p.Met130Ile)
c.330G>A (p.Met110Ile)
c.1014G>A (p.Met338Ile)
c.984G>A (p.Met328Ile)
c.858G>A (p.Met286Ile)
c.*316G>A (n.*316G>A)
16g.27362633G>CCA395298311IL4Rc.1281G>C (p.Met427Ile)
c.1236G>C (p.Met412Ile)
c.230-1470G>C (n.230-1470G>C)
c.*1324G>C (n.*1324G>C)
c.801G>C (p.Met267Ile)
c.390G>C (p.Met130Ile)
c.330G>C (p.Met110Ile)
c.1014G>C (p.Met338Ile)
c.984G>C (p.Met328Ile)
c.858G>C (p.Met286Ile)
c.*316G>C (n.*316G>C)
16g.27362633G=CA2215169561IL4Rc.1281G= (p.Met427=)
c.1236G= (p.Met412=)
c.230-1470G= (n.230-1470G=)
c.*1324G= (n.*1324G=)
c.801G= (p.Met267=)
c.390G= (p.Met130=)
c.330G= (p.Met110=)
c.1014G= (p.Met338=)
c.984G= (p.Met328=)
c.858G= (p.Met286=)
c.*316G= (n.*316G=)
16g.27362633G>TCA395298313IL4Rc.1281G>T (p.Met427Ile)
c.1236G>T (p.Met412Ile)
c.230-1470G>T (n.230-1470G>T)
c.*1324G>T (n.*1324G>T)
c.801G>T (p.Met267Ile)
c.390G>T (p.Met130Ile)
c.330G>T (p.Met110Ile)
c.1014G>T (p.Met338Ile)
c.984G>T (p.Met328Ile)
c.858G>T (p.Met286Ile)
c.*316G>T (n.*316G>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.27362634G>ACA395298317IL4Rc.1282G>A (p.Gly428Arg)
c.1237G>A (p.Gly413Arg)
c.230-1469G>A (n.230-1469G>A)
c.*1325G>A (n.*1325G>A)
c.802G>A (p.Gly268Arg)
c.391G>A (p.Gly131Arg)
c.331G>A (p.Gly111Arg)
c.1015G>A (p.Gly339Arg)
c.985G>A (p.Gly329Arg)
c.859G>A (p.Gly287Arg)
c.*317G>A (n.*317G>A)
16g.27362634G>CCA395298319IL4Rc.1282G>C (p.Gly428Arg)
c.1237G>C (p.Gly413Arg)
c.230-1469G>C (n.230-1469G>C)
c.*1325G>C (n.*1325G>C)
c.802G>C (p.Gly268Arg)
c.391G>C (p.Gly131Arg)
c.331G>C (p.Gly111Arg)
c.1015G>C (p.Gly339Arg)
c.985G>C (p.Gly329Arg)
c.859G>C (p.Gly287Arg)
c.*317G>C (n.*317G>C)
16g.27362634G>TCA395298321IL4Rc.1282G>T (p.Gly428Trp)
c.1237G>T (p.Gly413Trp)
c.230-1469G>T (n.230-1469G>T)
c.*1325G>T (n.*1325G>T)
c.802G>T (p.Gly268Trp)
c.391G>T (p.Gly131Trp)
c.331G>T (p.Gly111Trp)
c.1015G>T (p.Gly339Trp)
c.985G>T (p.Gly329Trp)
c.859G>T (p.Gly287Trp)
c.*317G>T (n.*317G>T)
16g.27362635G>ACA395298328IL4Rc.1283G>A (p.Gly428Glu)
c.1238G>A (p.Gly413Glu)
c.230-1468G>A (n.230-1468G>A)
c.*1326G>A (n.*1326G>A)
c.803G>A (p.Gly268Glu)
c.392G>A (p.Gly131Glu)
c.332G>A (p.Gly111Glu)
c.1016G>A (p.Gly339Glu)
c.986G>A (p.Gly329Glu)
c.860G>A (p.Gly287Glu)
c.*318G>A (n.*318G>A)
dbSNP gnomAD v2
16g.27362635G>CCA395298327IL4Rc.1283G>C (p.Gly428Ala)
c.1238G>C (p.Gly413Ala)
c.230-1468G>C (n.230-1468G>C)
c.*1326G>C (n.*1326G>C)
c.803G>C (p.Gly268Ala)
c.392G>C (p.Gly131Ala)
c.332G>C (p.Gly111Ala)
c.1016G>C (p.Gly339Ala)
c.986G>C (p.Gly329Ala)
c.860G>C (p.Gly287Ala)
c.*318G>C (n.*318G>C)
16g.27362635G=CA2215169563IL4Rc.1283G= (p.Gly428=)
c.1238G= (p.Gly413=)
c.230-1468G= (n.230-1468G=)
c.*1326G= (n.*1326G=)
c.803G= (p.Gly268=)
c.392G= (p.Gly131=)
c.332G= (p.Gly111=)
c.1016G= (p.Gly339=)
c.986G= (p.Gly329=)
c.860G= (p.Gly287=)
c.*318G= (n.*318G=)
16g.27362635G>TCA395298325IL4Rc.1283G>T (p.Gly428Val)
c.1238G>T (p.Gly413Val)
c.230-1468G>T (n.230-1468G>T)
c.*1326G>T (n.*1326G>T)
c.803G>T (p.Gly268Val)
c.392G>T (p.Gly131Val)
c.332G>T (p.Gly111Val)
c.1016G>T (p.Gly339Val)
c.986G>T (p.Gly329Val)
c.860G>T (p.Gly287Val)
c.*318G>T (n.*318G>T)
16g.27362636G>ACA494470504IL4Rc.1284G>A (p.Gly428=)
c.1239G>A (p.Gly413=)
c.230-1467G>A (n.230-1467G>A)
c.*1327G>A (n.*1327G>A)
c.804G>A (p.Gly268=)
c.393G>A (p.Gly131=)
c.333G>A (p.Gly111=)
c.1017G>A (p.Gly339=)
c.987G>A (p.Gly329=)
c.861G>A (p.Gly287=)
c.*319G>A (n.*319G>A)
gnomAD v4
16g.27362636G>CCA494470505IL4Rc.1284G>C (p.Gly428=)
c.1239G>C (p.Gly413=)
c.230-1467G>C (n.230-1467G>C)
c.*1327G>C (n.*1327G>C)
c.804G>C (p.Gly268=)
c.393G>C (p.Gly131=)
c.333G>C (p.Gly111=)
c.1017G>C (p.Gly339=)
c.987G>C (p.Gly329=)
c.861G>C (p.Gly287=)
c.*319G>C (n.*319G>C)
16g.27362636G=CA2215169564IL4Rc.1284G= (p.Gly428=)
c.1239G= (p.Gly413=)
c.230-1467G= (n.230-1467G=)
c.*1327G= (n.*1327G=)
c.804G= (p.Gly268=)
c.393G= (p.Gly131=)
c.333G= (p.Gly111=)
c.1017G= (p.Gly339=)
c.987G= (p.Gly329=)
c.861G= (p.Gly287=)
c.*319G= (n.*319G=)
16g.27362636G>TCA7974528IL4Rc.1284G>T (p.Gly428=)
c.1239G>T (p.Gly413=)
c.230-1467G>T (n.230-1467G>T)
c.*1327G>T (n.*1327G>T)
c.804G>T (p.Gly268=)
c.393G>T (p.Gly131=)
c.333G>T (p.Gly111=)
c.1017G>T (p.Gly339=)
c.987G>T (p.Gly329=)
c.861G>T (p.Gly287=)
c.*319G>T (n.*319G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362637G>ACA7974529IL4Rc.1285G>A (p.Glu429Lys)
c.1240G>A (p.Glu414Lys)
c.230-1466G>A (n.230-1466G>A)
c.*1328G>A (n.*1328G>A)
c.805G>A (p.Glu269Lys)
c.394G>A (p.Glu132Lys)
c.334G>A (p.Glu112Lys)
c.1018G>A (p.Glu340Lys)
c.988G>A (p.Glu330Lys)
c.862G>A (p.Glu288Lys)
c.*320G>A (n.*320G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362637G>CCA395298333IL4Rc.1285G>C (p.Glu429Gln)
c.1240G>C (p.Glu414Gln)
c.230-1466G>C (n.230-1466G>C)
c.*1328G>C (n.*1328G>C)
c.805G>C (p.Glu269Gln)
c.394G>C (p.Glu132Gln)
c.334G>C (p.Glu112Gln)
c.1018G>C (p.Glu340Gln)
c.988G>C (p.Glu330Gln)
c.862G>C (p.Glu288Gln)
c.*320G>C (n.*320G>C)
16g.27362637G=CA2215169565IL4Rc.1285G= (p.Glu429=)
c.1240G= (p.Glu414=)
c.230-1466G= (n.230-1466G=)
c.*1328G= (n.*1328G=)
c.805G= (p.Glu269=)
c.394G= (p.Glu132=)
c.334G= (p.Glu112=)
c.1018G= (p.Glu340=)
c.988G= (p.Glu330=)
c.862G= (p.Glu288=)
c.*320G= (n.*320G=)
16g.27362637G>TCA395298336IL4Rc.1285G>T (p.Glu429Ter)
c.1240G>T (p.Glu414Ter)
c.230-1466G>T (n.230-1466G>T)
c.*1328G>T (n.*1328G>T)
c.805G>T (p.Glu269Ter)
c.394G>T (p.Glu132Ter)
c.334G>T (p.Glu112Ter)
c.1018G>T (p.Glu340Ter)
c.988G>T (p.Glu330Ter)
c.862G>T (p.Glu288Ter)
c.*320G>T (n.*320G>T)
16g.27362638A>CCA395298338IL4Rc.1286A>C (p.Glu429Ala)
c.1241A>C (p.Glu414Ala)
c.230-1465A>C (n.230-1465A>C)
c.*1329A>C (n.*1329A>C)
c.806A>C (p.Glu269Ala)
c.395A>C (p.Glu132Ala)
c.335A>C (p.Glu112Ala)
c.1019A>C (p.Glu340Ala)
c.989A>C (p.Glu330Ala)
c.863A>C (p.Glu288Ala)
c.*321A>C (n.*321A>C)
16g.27362638A>GCA395298340IL4Rc.1286A>G (p.Glu429Gly)
c.1241A>G (p.Glu414Gly)
c.230-1465A>G (n.230-1465A>G)
c.*1329A>G (n.*1329A>G)
c.806A>G (p.Glu269Gly)
c.395A>G (p.Glu132Gly)
c.335A>G (p.Glu112Gly)
c.1019A>G (p.Glu340Gly)
c.989A>G (p.Glu330Gly)
c.863A>G (p.Glu288Gly)
c.*321A>G (n.*321A>G)
16g.27362638A>TCA395298342IL4Rc.1286A>T (p.Glu429Val)
c.1241A>T (p.Glu414Val)
c.230-1465A>T (n.230-1465A>T)
c.*1329A>T (n.*1329A>T)
c.806A>T (p.Glu269Val)
c.395A>T (p.Glu132Val)
c.335A>T (p.Glu112Val)
c.1019A>T (p.Glu340Val)
c.989A>T (p.Glu330Val)
c.863A>T (p.Glu288Val)
c.*321A>T (n.*321A>T)
16g.27362639G>ACA494470509IL4Rc.1287G>A (p.Glu429=)
c.1242G>A (p.Glu414=)
c.230-1464G>A (n.230-1464G>A)
c.*1330G>A (n.*1330G>A)
c.807G>A (p.Glu269=)
c.396G>A (p.Glu132=)
c.336G>A (p.Glu112=)
c.1020G>A (p.Glu340=)
c.990G>A (p.Glu330=)
c.864G>A (p.Glu288=)
c.*322G>A (n.*322G>A)
16g.27362639G>CCA395298344IL4Rc.1287G>C (p.Glu429Asp)
c.1242G>C (p.Glu414Asp)
c.230-1464G>C (n.230-1464G>C)
c.*1330G>C (n.*1330G>C)
c.807G>C (p.Glu269Asp)
c.396G>C (p.Glu132Asp)
c.336G>C (p.Glu112Asp)
c.1020G>C (p.Glu340Asp)
c.990G>C (p.Glu330Asp)
c.864G>C (p.Glu288Asp)
c.*322G>C (n.*322G>C)
gnomAD v4
16g.27362639G>TCA395298346IL4Rc.1287G>T (p.Glu429Asp)
c.1242G>T (p.Glu414Asp)
c.230-1464G>T (n.230-1464G>T)
c.*1330G>T (n.*1330G>T)
c.807G>T (p.Glu269Asp)
c.396G>T (p.Glu132Asp)
c.336G>T (p.Glu112Asp)
c.1020G>T (p.Glu340Asp)
c.990G>T (p.Glu330Asp)
c.864G>T (p.Glu288Asp)
c.*322G>T (n.*322G>T)
16g.27362640T>ACA395298349IL4Rc.1288T>A (p.Ser430Thr)
c.1243T>A (p.Ser415Thr)
c.230-1463T>A (n.230-1463T>A)
c.*1331T>A (n.*1331T>A)
c.808T>A (p.Ser270Thr)
c.397T>A (p.Ser133Thr)
c.337T>A (p.Ser113Thr)
c.1021T>A (p.Ser341Thr)
c.991T>A (p.Ser331Thr)
c.865T>A (p.Ser289Thr)
c.*323T>A (n.*323T>A)
16g.27362640T>CCA395298351IL4Rc.1288T>C (p.Ser430Pro)
c.1243T>C (p.Ser415Pro)
c.230-1463T>C (n.230-1463T>C)
c.*1331T>C (n.*1331T>C)
c.808T>C (p.Ser270Pro)
c.397T>C (p.Ser133Pro)
c.337T>C (p.Ser113Pro)
c.1021T>C (p.Ser341Pro)
c.991T>C (p.Ser331Pro)
c.865T>C (p.Ser289Pro)
c.*323T>C (n.*323T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362640T>GCA395298353IL4Rc.1288T>G (p.Ser430Ala)
c.1243T>G (p.Ser415Ala)
c.230-1463T>G (n.230-1463T>G)
c.*1331T>G (n.*1331T>G)
c.808T>G (p.Ser270Ala)
c.397T>G (p.Ser133Ala)
c.337T>G (p.Ser113Ala)
c.1021T>G (p.Ser341Ala)
c.991T>G (p.Ser331Ala)
c.865T>G (p.Ser289Ala)
c.*323T>G (n.*323T>G)
gnomAD v3 gnomAD v4
16g.27362640T=CA2215169566IL4Rc.1288T= (p.Ser430=)
c.1243T= (p.Ser415=)
c.230-1463T= (n.230-1463T=)
c.*1331T= (n.*1331T=)
c.808T= (p.Ser270=)
c.397T= (p.Ser133=)
c.337T= (p.Ser113=)
c.1021T= (p.Ser341=)
c.991T= (p.Ser331=)
c.865T= (p.Ser289=)
c.*323T= (n.*323T=)
16g.27362641C>ACA395298355IL4Rc.1289C>A (p.Ser430Ter)
c.1244C>A (p.Ser415Ter)
c.230-1462C>A (n.230-1462C>A)
c.*1332C>A (n.*1332C>A)
c.809C>A (p.Ser270Ter)
c.398C>A (p.Ser133Ter)
c.338C>A (p.Ser113Ter)
c.1022C>A (p.Ser341Ter)
c.992C>A (p.Ser331Ter)
c.866C>A (p.Ser289Ter)
c.*324C>A (n.*324C>A)
16g.27362641C>GCA395298357IL4Rc.1289C>G (p.Ser430Ter)
c.1244C>G (p.Ser415Ter)
c.230-1462C>G (n.230-1462C>G)
c.*1332C>G (n.*1332C>G)
c.809C>G (p.Ser270Ter)
c.398C>G (p.Ser133Ter)
c.338C>G (p.Ser113Ter)
c.1022C>G (p.Ser341Ter)
c.992C>G (p.Ser331Ter)
c.866C>G (p.Ser289Ter)
c.*324C>G (n.*324C>G)
16g.27362641C>TCA395298359IL4Rc.1289C>T (p.Ser430Leu)
c.1244C>T (p.Ser415Leu)
c.230-1462C>T (n.230-1462C>T)
c.*1332C>T (n.*1332C>T)
c.809C>T (p.Ser270Leu)
c.398C>T (p.Ser133Leu)
c.338C>T (p.Ser113Leu)
c.1022C>T (p.Ser341Leu)
c.992C>T (p.Ser331Leu)
c.866C>T (p.Ser289Leu)
c.*324C>T (n.*324C>T)
16g.27362642A>CCA494470513IL4Rc.1290A>C (p.Ser430=)
c.1245A>C (p.Ser415=)
c.230-1461A>C (n.230-1461A>C)
c.*1333A>C (n.*1333A>C)
c.810A>C (p.Ser270=)
c.399A>C (p.Ser133=)
c.339A>C (p.Ser113=)
c.1023A>C (p.Ser341=)
c.993A>C (p.Ser331=)
c.867A>C (p.Ser289=)
c.*325A>C (n.*325A>C)
16g.27362642A>GCA494470514IL4Rc.1290A>G (p.Ser430=)
c.1245A>G (p.Ser415=)
c.230-1461A>G (n.230-1461A>G)
c.*1333A>G (n.*1333A>G)
c.810A>G (p.Ser270=)
c.399A>G (p.Ser133=)
c.339A>G (p.Ser113=)
c.1023A>G (p.Ser341=)
c.993A>G (p.Ser331=)
c.867A>G (p.Ser289=)
c.*325A>G (n.*325A>G)
gnomAD v4 COSMIC
16g.27362642A>TCA494470515IL4Rc.1290A>T (p.Ser430=)
c.1245A>T (p.Ser415=)
c.230-1461A>T (n.230-1461A>T)
c.*1333A>T (n.*1333A>T)
c.810A>T (p.Ser270=)
c.399A>T (p.Ser133=)
c.339A>T (p.Ser113=)
c.1023A>T (p.Ser341=)
c.993A>T (p.Ser331=)
c.867A>T (p.Ser289=)
c.*325A>T (n.*325A>T)
16g.27362643T>ACA395298365IL4Rc.1291T>A (p.Cys431Ser)
c.1246T>A (p.Cys416Ser)
c.230-1460T>A (n.230-1460T>A)
c.*1334T>A (n.*1334T>A)
c.811T>A (p.Cys271Ser)
c.400T>A (p.Cys134Ser)
c.340T>A (p.Cys114Ser)
c.1024T>A (p.Cys342Ser)
c.994T>A (p.Cys332Ser)
c.868T>A (p.Cys290Ser)
c.*326T>A (n.*326T>A)
16g.27362643T>CCA7974530IL4Rc.1291T>C (p.Cys431Arg)
c.1246T>C (p.Cys416Arg)
c.230-1460T>C (n.230-1460T>C)
c.*1334T>C (n.*1334T>C)
c.811T>C (p.Cys271Arg)
c.400T>C (p.Cys134Arg)
c.340T>C (p.Cys114Arg)
c.1024T>C (p.Cys342Arg)
c.994T>C (p.Cys332Arg)
c.868T>C (p.Cys290Arg)
c.*326T>C (n.*326T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362643T>GCA395298361IL4Rc.1291T>G (p.Cys431Gly)
c.1246T>G (p.Cys416Gly)
c.230-1460T>G (n.230-1460T>G)
c.*1334T>G (n.*1334T>G)
c.811T>G (p.Cys271Gly)
c.400T>G (p.Cys134Gly)
c.340T>G (p.Cys114Gly)
c.1024T>G (p.Cys342Gly)
c.994T>G (p.Cys332Gly)
c.868T>G (p.Cys290Gly)
c.*326T>G (n.*326T>G)
16g.27362643T=CA2215169569IL4Rc.1291T= (p.Cys431=)
c.1246T= (p.Cys416=)
c.230-1460T= (n.230-1460T=)
c.*1334T= (n.*1334T=)
c.811T= (p.Cys271=)
c.400T= (p.Cys134=)
c.340T= (p.Cys114=)
c.1024T= (p.Cys342=)
c.994T= (p.Cys332=)
c.868T= (p.Cys290=)
c.*326T= (n.*326T=)
16g.27362644G>ACA395298368IL4Rc.1292G>A (p.Cys431Tyr)
c.1247G>A (p.Cys416Tyr)
c.230-1459G>A (n.230-1459G>A)
c.*1335G>A (n.*1335G>A)
c.812G>A (p.Cys271Tyr)
c.401G>A (p.Cys134Tyr)
c.341G>A (p.Cys114Tyr)
c.1025G>A (p.Cys342Tyr)
c.995G>A (p.Cys332Tyr)
c.869G>A (p.Cys290Tyr)
c.*327G>A (n.*327G>A)
16g.27362644G>CCA395298370IL4Rc.1292G>C (p.Cys431Ser)
c.1247G>C (p.Cys416Ser)
c.230-1459G>C (n.230-1459G>C)
c.*1335G>C (n.*1335G>C)
c.812G>C (p.Cys271Ser)
c.401G>C (p.Cys134Ser)
c.341G>C (p.Cys114Ser)
c.1025G>C (p.Cys342Ser)
c.995G>C (p.Cys332Ser)
c.869G>C (p.Cys290Ser)
c.*327G>C (n.*327G>C)
16g.27362644G>TCA395298372IL4Rc.1292G>T (p.Cys431Phe)
c.1247G>T (p.Cys416Phe)
c.230-1459G>T (n.230-1459G>T)
c.*1335G>T (n.*1335G>T)
c.812G>T (p.Cys271Phe)
c.401G>T (p.Cys134Phe)
c.341G>T (p.Cys114Phe)
c.1025G>T (p.Cys342Phe)
c.995G>T (p.Cys332Phe)
c.869G>T (p.Cys290Phe)
c.*327G>T (n.*327G>T)
16g.27362645C>ACA395298379IL4Rc.1293C>A (p.Cys431Ter)
c.1248C>A (p.Cys416Ter)
c.230-1458C>A (n.230-1458C>A)
c.*1336C>A (n.*1336C>A)
c.813C>A (p.Cys271Ter)
c.402C>A (p.Cys134Ter)
c.342C>A (p.Cys114Ter)
c.1026C>A (p.Cys342Ter)
c.996C>A (p.Cys332Ter)
c.870C>A (p.Cys290Ter)
c.*328C>A (n.*328C>A)
16g.27362645C=CA2215169571IL4Rc.1293C= (p.Cys431=)
c.1248C= (p.Cys416=)
c.230-1458C= (n.230-1458C=)
c.*1336C= (n.*1336C=)
c.813C= (p.Cys271=)
c.402C= (p.Cys134=)
c.342C= (p.Cys114=)
c.1026C= (p.Cys342=)
c.996C= (p.Cys332=)
c.870C= (p.Cys290=)
c.*328C= (n.*328C=)
16g.27362645C>GCA395298380IL4Rc.1293C>G (p.Cys431Trp)
c.1248C>G (p.Cys416Trp)
c.230-1458C>G (n.230-1458C>G)
c.*1336C>G (n.*1336C>G)
c.813C>G (p.Cys271Trp)
c.402C>G (p.Cys134Trp)
c.342C>G (p.Cys114Trp)
c.1026C>G (p.Cys342Trp)
c.996C>G (p.Cys332Trp)
c.870C>G (p.Cys290Trp)
c.*328C>G (n.*328C>G)
16g.27362645C>TCA7974531IL4Rc.1293C>T (p.Cys431=)
c.1248C>T (p.Cys416=)
c.230-1458C>T (n.230-1458C>T)
c.*1336C>T (n.*1336C>T)
c.813C>T (p.Cys271=)
c.402C>T (p.Cys134=)
c.342C>T (p.Cys114=)
c.1026C>T (p.Cys342=)
c.996C>T (p.Cys332=)
c.870C>T (p.Cys290=)
c.*328C>T (n.*328C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362645_27362648delinsCCTTCA2215169572IL4Rc.1293_1296delinsCCTT (p.Cys431=)
c.1248_1251delinsCCTT (p.Cys416=)
c.230-1458_230-1455delinsCCTT (n.230-1458_230-1455delinsCCTT)
c.*1336_*1339delinsCCTT (n.*1336_*1339delinsCCTT)
c.813_816delinsCCTT (p.Cys271=)
c.402_405delinsCCTT (p.Cys134=)
c.342_345delinsCCTT (p.Cys114=)
c.1026_1029delinsCCTT (p.Cys342=)
c.996_999delinsCCTT (p.Cys332=)
c.870_873delinsCCTT (p.Cys290=)
c.*328_*331delinsCCTT (n.*328_*331delinsCCTT)
16g.27362646C>ACA395298386IL4Rc.1294C>A (p.Leu432Ile)
c.1249C>A (p.Leu417Ile)
c.230-1457C>A (n.230-1457C>A)
c.*1337C>A (n.*1337C>A)
c.814C>A (p.Leu272Ile)
c.403C>A (p.Leu135Ile)
c.343C>A (p.Leu115Ile)
c.1027C>A (p.Leu343Ile)
c.997C>A (p.Leu333Ile)
c.871C>A (p.Leu291Ile)
c.*329C>A (n.*329C>A)
16g.27362646C=CA2215169573IL4Rc.1294C= (p.Leu432=)
c.1249C= (p.Leu417=)
c.230-1457C= (n.230-1457C=)
c.*1337C= (n.*1337C=)
c.814C= (p.Leu272=)
c.403C= (p.Leu135=)
c.343C= (p.Leu115=)
c.1027C= (p.Leu343=)
c.997C= (p.Leu333=)
c.871C= (p.Leu291=)
c.*329C= (n.*329C=)
16g.27362646C>GCA395298388IL4Rc.1294C>G (p.Leu432Val)
c.1249C>G (p.Leu417Val)
c.230-1457C>G (n.230-1457C>G)
c.*1337C>G (n.*1337C>G)
c.814C>G (p.Leu272Val)
c.403C>G (p.Leu135Val)
c.343C>G (p.Leu115Val)
c.1027C>G (p.Leu343Val)
c.997C>G (p.Leu333Val)
c.871C>G (p.Leu291Val)
c.*329C>G (n.*329C>G)
16g.27362646C>TCA7974532IL4Rc.1294C>T (p.Leu432Phe)
c.1249C>T (p.Leu417Phe)
c.230-1457C>T (n.230-1457C>T)
c.*1337C>T (n.*1337C>T)
c.814C>T (p.Leu272Phe)
c.403C>T (p.Leu135Phe)
c.343C>T (p.Leu115Phe)
c.1027C>T (p.Leu343Phe)
c.997C>T (p.Leu333Phe)
c.871C>T (p.Leu291Phe)
c.*329C>T (n.*329C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
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.27362647T>ACA395298391IL4Rc.1295T>A (p.Leu432His)
c.1250T>A (p.Leu417His)
c.230-1456T>A (n.230-1456T>A)
c.*1338T>A (n.*1338T>A)
c.815T>A (p.Leu272His)
c.404T>A (p.Leu135His)
c.344T>A (p.Leu115His)
c.1028T>A (p.Leu343His)
c.998T>A (p.Leu333His)
c.872T>A (p.Leu291His)
c.*330T>A (n.*330T>A)
16g.27362647T>CCA395298393IL4Rc.1295T>C (p.Leu432Pro)
c.1250T>C (p.Leu417Pro)
c.230-1456T>C (n.230-1456T>C)
c.*1338T>C (n.*1338T>C)
c.815T>C (p.Leu272Pro)
c.404T>C (p.Leu135Pro)
c.344T>C (p.Leu115Pro)
c.1028T>C (p.Leu343Pro)
c.998T>C (p.Leu333Pro)
c.872T>C (p.Leu291Pro)
c.*330T>C (n.*330T>C)
16g.27362647T>GCA395298394IL4Rc.1295T>G (p.Leu432Arg)
c.1250T>G (p.Leu417Arg)
c.230-1456T>G (n.230-1456T>G)
c.*1338T>G (n.*1338T>G)
c.815T>G (p.Leu272Arg)
c.404T>G (p.Leu135Arg)
c.344T>G (p.Leu115Arg)
c.1028T>G (p.Leu343Arg)
c.998T>G (p.Leu333Arg)
c.872T>G (p.Leu291Arg)
c.*330T>G (n.*330T>G)
16g.27362648T>ACA494470520IL4Rc.1296T>A (p.Leu432=)
c.1251T>A (p.Leu417=)
c.230-1455T>A (n.230-1455T>A)
c.*1339T>A (n.*1339T>A)
c.816T>A (p.Leu272=)
c.405T>A (p.Leu135=)
c.345T>A (p.Leu115=)
c.1029T>A (p.Leu343=)
c.999T>A (p.Leu333=)
c.873T>A (p.Leu291=)
c.*331T>A (n.*331T>A)
16g.27362648T>CCA279686581IL4Rc.1296T>C (p.Leu432=)
c.1251T>C (p.Leu417=)
c.230-1455T>C (n.230-1455T>C)
c.*1339T>C (n.*1339T>C)
c.816T>C (p.Leu272=)
c.405T>C (p.Leu135=)
c.345T>C (p.Leu115=)
c.1029T>C (p.Leu343=)
c.999T>C (p.Leu333=)
c.873T>C (p.Leu291=)
c.*331T>C (n.*331T>C)
dbSNP
16g.27362648T>GCA494470519IL4Rc.1296T>G (p.Leu432=)
c.1251T>G (p.Leu417=)
c.230-1455T>G (n.230-1455T>G)
c.*1339T>G (n.*1339T>G)
c.816T>G (p.Leu272=)
c.405T>G (p.Leu135=)
c.345T>G (p.Leu115=)
c.1029T>G (p.Leu343=)
c.999T>G (p.Leu333=)
c.873T>G (p.Leu291=)
c.*331T>G (n.*331T>G)
16g.27362648T=CA2215169578IL4Rc.1296T= (p.Leu432=)
c.1251T= (p.Leu417=)
c.230-1455T= (n.230-1455T=)
c.*1339T= (n.*1339T=)
c.816T= (p.Leu272=)
c.405T= (p.Leu135=)
c.345T= (p.Leu115=)
c.1029T= (p.Leu343=)
c.999T= (p.Leu333=)
c.873T= (p.Leu291=)
c.*331T= (n.*331T=)
16g.27362649C>ACA395298402IL4Rc.1297C>A (p.Leu433Ile)
c.1252C>A (p.Leu418Ile)
c.230-1454C>A (n.230-1454C>A)
c.*1340C>A (n.*1340C>A)
c.817C>A (p.Leu273Ile)
c.406C>A (p.Leu136Ile)
c.346C>A (p.Leu116Ile)
c.1030C>A (p.Leu344Ile)
c.1000C>A (p.Leu334Ile)
c.874C>A (p.Leu292Ile)
c.*332C>A (n.*332C>A)
16g.27362649C>GCA395298399IL4Rc.1297C>G (p.Leu433Val)
c.1252C>G (p.Leu418Val)
c.230-1454C>G (n.230-1454C>G)
c.*1340C>G (n.*1340C>G)
c.817C>G (p.Leu273Val)
c.406C>G (p.Leu136Val)
c.346C>G (p.Leu116Val)
c.1030C>G (p.Leu344Val)
c.1000C>G (p.Leu334Val)
c.874C>G (p.Leu292Val)
c.*332C>G (n.*332C>G)
16g.27362649C>TCA395298397IL4Rc.1297C>T (p.Leu433Phe)
c.1252C>T (p.Leu418Phe)
c.230-1454C>T (n.230-1454C>T)
c.*1340C>T (n.*1340C>T)
c.817C>T (p.Leu273Phe)
c.406C>T (p.Leu136Phe)
c.346C>T (p.Leu116Phe)
c.1030C>T (p.Leu344Phe)
c.1000C>T (p.Leu334Phe)
c.874C>T (p.Leu292Phe)
c.*332C>T (n.*332C>T)
16g.27362650T>ACA395298408IL4Rc.1298T>A (p.Leu433His)
c.1253T>A (p.Leu418His)
c.230-1453T>A (n.230-1453T>A)
c.*1341T>A (n.*1341T>A)
c.818T>A (p.Leu273His)
c.407T>A (p.Leu136His)
c.347T>A (p.Leu116His)
c.1031T>A (p.Leu344His)
c.1001T>A (p.Leu334His)
c.875T>A (p.Leu292His)
c.*333T>A (n.*333T>A)
16g.27362650T>CCA279686587IL4Rc.1298T>C (p.Leu433Pro)
c.1253T>C (p.Leu418Pro)
c.230-1453T>C (n.230-1453T>C)
c.*1341T>C (n.*1341T>C)
c.818T>C (p.Leu273Pro)
c.407T>C (p.Leu136Pro)
c.347T>C (p.Leu116Pro)
c.1031T>C (p.Leu344Pro)
c.1001T>C (p.Leu334Pro)
c.875T>C (p.Leu292Pro)
c.*333T>C (n.*333T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362650T>GCA395298407IL4Rc.1298T>G (p.Leu433Arg)
c.1253T>G (p.Leu418Arg)
c.230-1453T>G (n.230-1453T>G)
c.*1341T>G (n.*1341T>G)
c.818T>G (p.Leu273Arg)
c.407T>G (p.Leu136Arg)
c.347T>G (p.Leu116Arg)
c.1031T>G (p.Leu344Arg)
c.1001T>G (p.Leu334Arg)
c.875T>G (p.Leu292Arg)
c.*333T>G (n.*333T>G)
16g.27362650T=CA2215169582IL4Rc.1298T= (p.Leu433=)
c.1253T= (p.Leu418=)
c.230-1453T= (n.230-1453T=)
c.*1341T= (n.*1341T=)
c.818T= (p.Leu273=)
c.407T= (p.Leu136=)
c.347T= (p.Leu116=)
c.1031T= (p.Leu344=)
c.1001T= (p.Leu334=)
c.875T= (p.Leu292=)
c.*333T= (n.*333T=)
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

Number of alleles fetched