Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.27363513_27363524delCA2632431248IL4Rc.2161_2172del (p.Cys721_Leu724del)
c.2116_2127del (p.Cys706_Leu709del)
c.230-590_230-579del (n.230-590_230-579del)
c.*2204_*2215del (n.*2204_*2215del)
c.1681_1692del (p.Cys561_Leu564del)
c.1270_1281del (p.Cys424_Leu427del)
c.1210_1221del (p.Cys404_Leu407del)
c.1894_1905del (p.Cys632_Leu635del)
c.1864_1875del (p.Cys622_Leu625del)
c.1738_1749del (p.Cys580_Leu583del)
 gnomAD v4
16g.27363507C>ACA395302496IL4Rc.2155C>A (p.His719Asn)
c.2110C>A (p.His704Asn)
c.230-596C>A (n.230-596C>A)
c.*2198C>A (n.*2198C>A)
c.1675C>A (p.His559Asn)
c.1264C>A (p.His422Asn)
c.1204C>A (p.His402Asn)
c.1888C>A (p.His630Asn)
c.1858C>A (p.His620Asn)
c.1732C>A (p.His578Asn)
16g.27363507C>GCA395302498IL4Rc.2155C>G (p.His719Asp)
c.2110C>G (p.His704Asp)
c.230-596C>G (n.230-596C>G)
c.*2198C>G (n.*2198C>G)
c.1675C>G (p.His559Asp)
c.1264C>G (p.His422Asp)
c.1204C>G (p.His402Asp)
c.1888C>G (p.His630Asp)
c.1858C>G (p.His620Asp)
c.1732C>G (p.His578Asp)
16g.27363507C>TCA395302501IL4Rc.2155C>T (p.His719Tyr)
c.2110C>T (p.His704Tyr)
c.230-596C>T (n.230-596C>T)
c.*2198C>T (n.*2198C>T)
c.1675C>T (p.His559Tyr)
c.1264C>T (p.His422Tyr)
c.1204C>T (p.His402Tyr)
c.1888C>T (p.His630Tyr)
c.1858C>T (p.His620Tyr)
c.1732C>T (p.His578Tyr)
 dbSNP gnomAD v4
16g.27363508A>CCA395302506IL4Rc.2156A>C (p.His719Pro)
c.2111A>C (p.His704Pro)
c.230-595A>C (n.230-595A>C)
c.*2199A>C (n.*2199A>C)
c.1676A>C (p.His559Pro)
c.1265A>C (p.His422Pro)
c.1205A>C (p.His402Pro)
c.1889A>C (p.His630Pro)
c.1859A>C (p.His620Pro)
c.1733A>C (p.His578Pro)
16g.27363508A>GCA395302524IL4Rc.2156A>G (p.His719Arg)
c.2111A>G (p.His704Arg)
c.230-595A>G (n.230-595A>G)
c.*2199A>G (n.*2199A>G)
c.1676A>G (p.His559Arg)
c.1265A>G (p.His422Arg)
c.1205A>G (p.His402Arg)
c.1889A>G (p.His630Arg)
c.1859A>G (p.His620Arg)
c.1733A>G (p.His578Arg)
16g.27363508A>TCA395302520IL4Rc.2156A>T (p.His719Leu)
c.2111A>T (p.His704Leu)
c.230-595A>T (n.230-595A>T)
c.*2199A>T (n.*2199A>T)
c.1676A>T (p.His559Leu)
c.1265A>T (p.His422Leu)
c.1205A>T (p.His402Leu)
c.1889A>T (p.His630Leu)
c.1859A>T (p.His620Leu)
c.1733A>T (p.His578Leu)
16g.27363509C>ACA395302529IL4Rc.2157C>A (p.His719Gln)
c.2112C>A (p.His704Gln)
c.230-594C>A (n.230-594C>A)
c.*2200C>A (n.*2200C>A)
c.1677C>A (p.His559Gln)
c.1266C>A (p.His422Gln)
c.1206C>A (p.His402Gln)
c.1890C>A (p.His630Gln)
c.1860C>A (p.His620Gln)
c.1734C>A (p.His578Gln)
16g.27363509C>GCA395302532IL4Rc.2157C>G (p.His719Gln)
c.2112C>G (p.His704Gln)
c.230-594C>G (n.230-594C>G)
c.*2200C>G (n.*2200C>G)
c.1677C>G (p.His559Gln)
c.1266C>G (p.His422Gln)
c.1206C>G (p.His402Gln)
c.1890C>G (p.His630Gln)
c.1860C>G (p.His620Gln)
c.1734C>G (p.His578Gln)
16g.27363509C>TCA494471053IL4Rc.2157C>T (p.His719=)
c.2112C>T (p.His704=)
c.230-594C>T (n.230-594C>T)
c.*2200C>T (n.*2200C>T)
c.1677C>T (p.His559=)
c.1266C>T (p.His422=)
c.1206C>T (p.His402=)
c.1890C>T (p.His630=)
c.1860C>T (p.His620=)
c.1734C>T (p.His578=)
16g.27363510C>ACA395302535IL4Rc.2158C>A (p.Leu720Met)
c.2113C>A (p.Leu705Met)
c.230-593C>A (n.230-593C>A)
c.*2201C>A (n.*2201C>A)
c.1678C>A (p.Leu560Met)
c.1267C>A (p.Leu423Met)
c.1207C>A (p.Leu403Met)
c.1891C>A (p.Leu631Met)
c.1861C>A (p.Leu621Met)
c.1735C>A (p.Leu579Met)
 gnomAD v4
16g.27363510C=CA2215170616IL4Rc.2158C= (p.Leu720=)
c.2113C= (p.Leu705=)
c.230-593C= (n.230-593C=)
c.*2201C= (n.*2201C=)
c.1678C= (p.Leu560=)
c.1267C= (p.Leu423=)
c.1207C= (p.Leu403=)
c.1891C= (p.Leu631=)
c.1861C= (p.Leu621=)
c.1735C= (p.Leu579=)
16g.27363510C>GCA395302537IL4Rc.2158C>G (p.Leu720Val)
c.2113C>G (p.Leu705Val)
c.230-593C>G (n.230-593C>G)
c.*2201C>G (n.*2201C>G)
c.1678C>G (p.Leu560Val)
c.1267C>G (p.Leu423Val)
c.1207C>G (p.Leu403Val)
c.1891C>G (p.Leu631Val)
c.1861C>G (p.Leu621Val)
c.1735C>G (p.Leu579Val)
 gnomAD v4
16g.27363510C>TCA7974700IL4Rc.2158C>T (p.Leu720=)
c.2113C>T (p.Leu705=)
c.230-593C>T (n.230-593C>T)
c.*2201C>T (n.*2201C>T)
c.1678C>T (p.Leu560=)
c.1267C>T (p.Leu423=)
c.1207C>T (p.Leu403=)
c.1891C>T (p.Leu631=)
c.1861C>T (p.Leu621=)
c.1735C>T (p.Leu579=)
 dbSNP ExAC gnomAD v2
16g.27363511T>ACA395302544IL4Rc.2159T>A (p.Leu720Gln)
c.2114T>A (p.Leu705Gln)
c.230-592T>A (n.230-592T>A)
c.*2202T>A (n.*2202T>A)
c.1679T>A (p.Leu560Gln)
c.1268T>A (p.Leu423Gln)
c.1208T>A (p.Leu403Gln)
c.1892T>A (p.Leu631Gln)
c.1862T>A (p.Leu621Gln)
c.1736T>A (p.Leu579Gln)
16g.27363511T>CCA395302546IL4Rc.2159T>C (p.Leu720Pro)
c.2114T>C (p.Leu705Pro)
c.230-592T>C (n.230-592T>C)
c.*2202T>C (n.*2202T>C)
c.1679T>C (p.Leu560Pro)
c.1268T>C (p.Leu423Pro)
c.1208T>C (p.Leu403Pro)
c.1892T>C (p.Leu631Pro)
c.1862T>C (p.Leu621Pro)
c.1736T>C (p.Leu579Pro)
16g.27363511T>GCA395302549IL4Rc.2159T>G (p.Leu720Arg)
c.2114T>G (p.Leu705Arg)
c.230-592T>G (n.230-592T>G)
c.*2202T>G (n.*2202T>G)
c.1679T>G (p.Leu560Arg)
c.1268T>G (p.Leu423Arg)
c.1208T>G (p.Leu403Arg)
c.1892T>G (p.Leu631Arg)
c.1862T>G (p.Leu621Arg)
c.1736T>G (p.Leu579Arg)
16g.27363512G>ACA494471060IL4Rc.2160G>A (p.Leu720=)
c.2115G>A (p.Leu705=)
c.230-591G>A (n.230-591G>A)
c.*2203G>A (n.*2203G>A)
c.1680G>A (p.Leu560=)
c.1269G>A (p.Leu423=)
c.1209G>A (p.Leu403=)
c.1893G>A (p.Leu631=)
c.1863G>A (p.Leu621=)
c.1737G>A (p.Leu579=)
16g.27363512G>CCA494471061IL4Rc.2160G>C (p.Leu720=)
c.2115G>C (p.Leu705=)
c.230-591G>C (n.230-591G>C)
c.*2203G>C (n.*2203G>C)
c.1680G>C (p.Leu560=)
c.1269G>C (p.Leu423=)
c.1209G>C (p.Leu403=)
c.1893G>C (p.Leu631=)
c.1863G>C (p.Leu621=)
c.1737G>C (p.Leu579=)
16g.27363512G>TCA494471062IL4Rc.2160G>T (p.Leu720=)
c.2115G>T (p.Leu705=)
c.230-591G>T (n.230-591G>T)
c.*2203G>T (n.*2203G>T)
c.1680G>T (p.Leu560=)
c.1269G>T (p.Leu423=)
c.1209G>T (p.Leu403=)
c.1893G>T (p.Leu631=)
c.1863G>T (p.Leu621=)
c.1737G>T (p.Leu579=)
16g.27363513T>ACA395302554IL4Rc.2161T>A (p.Cys721Ser)
c.2116T>A (p.Cys706Ser)
c.230-590T>A (n.230-590T>A)
c.*2204T>A (n.*2204T>A)
c.1681T>A (p.Cys561Ser)
c.1270T>A (p.Cys424Ser)
c.1210T>A (p.Cys404Ser)
c.1894T>A (p.Cys632Ser)
c.1864T>A (p.Cys622Ser)
c.1738T>A (p.Cys580Ser)
16g.27363513T>CCA395302557IL4Rc.2161T>C (p.Cys721Arg)
c.2116T>C (p.Cys706Arg)
c.230-590T>C (n.230-590T>C)
c.*2204T>C (n.*2204T>C)
c.1681T>C (p.Cys561Arg)
c.1270T>C (p.Cys424Arg)
c.1210T>C (p.Cys404Arg)
c.1894T>C (p.Cys632Arg)
c.1864T>C (p.Cys622Arg)
c.1738T>C (p.Cys580Arg)
16g.27363513T>GCA395302562IL4Rc.2161T>G (p.Cys721Gly)
c.2116T>G (p.Cys706Gly)
c.230-590T>G (n.230-590T>G)
c.*2204T>G (n.*2204T>G)
c.1681T>G (p.Cys561Gly)
c.1270T>G (p.Cys424Gly)
c.1210T>G (p.Cys404Gly)
c.1894T>G (p.Cys632Gly)
c.1864T>G (p.Cys622Gly)
c.1738T>G (p.Cys580Gly)
16g.27363514G>ACA395302572IL4Rc.2162G>A (p.Cys721Tyr)
c.2117G>A (p.Cys706Tyr)
c.230-589G>A (n.230-589G>A)
c.*2205G>A (n.*2205G>A)
c.1682G>A (p.Cys561Tyr)
c.1271G>A (p.Cys424Tyr)
c.1211G>A (p.Cys404Tyr)
c.1895G>A (p.Cys632Tyr)
c.1865G>A (p.Cys622Tyr)
c.1739G>A (p.Cys580Tyr)
16g.27363514G>CCA395302569IL4Rc.2162G>C (p.Cys721Ser)
c.2117G>C (p.Cys706Ser)
c.230-589G>C (n.230-589G>C)
c.*2205G>C (n.*2205G>C)
c.1682G>C (p.Cys561Ser)
c.1271G>C (p.Cys424Ser)
c.1211G>C (p.Cys404Ser)
c.1895G>C (p.Cys632Ser)
c.1865G>C (p.Cys622Ser)
c.1739G>C (p.Cys580Ser)
16g.27363514G>TCA395302566IL4Rc.2162G>T (p.Cys721Phe)
c.2117G>T (p.Cys706Phe)
c.230-589G>T (n.230-589G>T)
c.*2205G>T (n.*2205G>T)
c.1682G>T (p.Cys561Phe)
c.1271G>T (p.Cys424Phe)
c.1211G>T (p.Cys404Phe)
c.1895G>T (p.Cys632Phe)
c.1865G>T (p.Cys622Phe)
c.1739G>T (p.Cys580Phe)
16g.27363515C>ACA395302576IL4Rc.2163C>A (p.Cys721Ter)
c.2118C>A (p.Cys706Ter)
c.230-588C>A (n.230-588C>A)
c.*2206C>A (n.*2206C>A)
c.1683C>A (p.Cys561Ter)
c.1272C>A (p.Cys424Ter)
c.1212C>A (p.Cys404Ter)
c.1896C>A (p.Cys632Ter)
c.1866C>A (p.Cys622Ter)
c.1740C>A (p.Cys580Ter)
16g.27363515C=CA2215170620IL4Rc.2163C= (p.Cys721=)
c.2118C= (p.Cys706=)
c.230-588C= (n.230-588C=)
c.*2206C= (n.*2206C=)
c.1683C= (p.Cys561=)
c.1272C= (p.Cys424=)
c.1212C= (p.Cys404=)
c.1896C= (p.Cys632=)
c.1866C= (p.Cys622=)
c.1740C= (p.Cys580=)
16g.27363515C>GCA395302582IL4Rc.2163C>G (p.Cys721Trp)
c.2118C>G (p.Cys706Trp)
c.230-588C>G (n.230-588C>G)
c.*2206C>G (n.*2206C>G)
c.1683C>G (p.Cys561Trp)
c.1272C>G (p.Cys424Trp)
c.1212C>G (p.Cys404Trp)
c.1896C>G (p.Cys632Trp)
c.1866C>G (p.Cys622Trp)
c.1740C>G (p.Cys580Trp)
 gnomAD v4
16g.27363515C>TCA7974701IL4Rc.2163C>T (p.Cys721=)
c.2118C>T (p.Cys706=)
c.230-588C>T (n.230-588C>T)
c.*2206C>T (n.*2206C>T)
c.1683C>T (p.Cys561=)
c.1272C>T (p.Cys424=)
c.1212C>T (p.Cys404=)
c.1896C>T (p.Cys632=)
c.1866C>T (p.Cys622=)
c.1740C>T (p.Cys580=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363516G>ACA279687691IL4Rc.2164G>A (p.Gly722Ser)
c.2119G>A (p.Gly707Ser)
c.230-587G>A (n.230-587G>A)
c.*2207G>A (n.*2207G>A)
c.1684G>A (p.Gly562Ser)
c.1273G>A (p.Gly425Ser)
c.1213G>A (p.Gly405Ser)
c.1897G>A (p.Gly633Ser)
c.1867G>A (p.Gly623Ser)
c.1741G>A (p.Gly581Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.27363516G>CCA395302587IL4Rc.2164G>C (p.Gly722Arg)
c.2119G>C (p.Gly707Arg)
c.230-587G>C (n.230-587G>C)
c.*2207G>C (n.*2207G>C)
c.1684G>C (p.Gly562Arg)
c.1273G>C (p.Gly425Arg)
c.1213G>C (p.Gly405Arg)
c.1897G>C (p.Gly633Arg)
c.1867G>C (p.Gly623Arg)
c.1741G>C (p.Gly581Arg)
16g.27363516G=CA2215170624IL4Rc.2164G= (p.Gly722=)
c.2119G= (p.Gly707=)
c.230-587G= (n.230-587G=)
c.*2207G= (n.*2207G=)
c.1684G= (p.Gly562=)
c.1273G= (p.Gly425=)
c.1213G= (p.Gly405=)
c.1897G= (p.Gly633=)
c.1867G= (p.Gly623=)
c.1741G= (p.Gly581=)
16g.27363516G>TCA395302591IL4Rc.2164G>T (p.Gly722Cys)
c.2119G>T (p.Gly707Cys)
c.230-587G>T (n.230-587G>T)
c.*2207G>T (n.*2207G>T)
c.1684G>T (p.Gly562Cys)
c.1273G>T (p.Gly425Cys)
c.1213G>T (p.Gly405Cys)
c.1897G>T (p.Gly633Cys)
c.1867G>T (p.Gly623Cys)
c.1741G>T (p.Gly581Cys)
 dbSNP gnomAD v4
16g.27363517G>ACA395302595IL4Rc.2165G>A (p.Gly722Asp)
c.2120G>A (p.Gly707Asp)
c.230-586G>A (n.230-586G>A)
c.*2208G>A (n.*2208G>A)
c.1685G>A (p.Gly562Asp)
c.1274G>A (p.Gly425Asp)
c.1214G>A (p.Gly405Asp)
c.1898G>A (p.Gly633Asp)
c.1868G>A (p.Gly623Asp)
c.1742G>A (p.Gly581Asp)
16g.27363517G>CCA395302599IL4Rc.2165G>C (p.Gly722Ala)
c.2120G>C (p.Gly707Ala)
c.230-586G>C (n.230-586G>C)
c.*2208G>C (n.*2208G>C)
c.1685G>C (p.Gly562Ala)
c.1274G>C (p.Gly425Ala)
c.1214G>C (p.Gly405Ala)
c.1898G>C (p.Gly633Ala)
c.1868G>C (p.Gly623Ala)
c.1742G>C (p.Gly581Ala)
16g.27363517G=CA2215170630IL4Rc.2165G= (p.Gly722=)
c.2120G= (p.Gly707=)
c.230-586G= (n.230-586G=)
c.*2208G= (n.*2208G=)
c.1685G= (p.Gly562=)
c.1274G= (p.Gly425=)
c.1214G= (p.Gly405=)
c.1898G= (p.Gly633=)
c.1868G= (p.Gly623=)
c.1742G= (p.Gly581=)
16g.27363517G>TCA395302602IL4Rc.2165G>T (p.Gly722Val)
c.2120G>T (p.Gly707Val)
c.230-586G>T (n.230-586G>T)
c.*2208G>T (n.*2208G>T)
c.1685G>T (p.Gly562Val)
c.1274G>T (p.Gly425Val)
c.1214G>T (p.Gly405Val)
c.1898G>T (p.Gly633Val)
c.1868G>T (p.Gly623Val)
c.1742G>T (p.Gly581Val)
 dbSNP gnomAD v2 gnomAD v4
16g.27363518C>ACA494471082IL4Rc.2166C>A (p.Gly722=)
c.2121C>A (p.Gly707=)
c.230-585C>A (n.230-585C>A)
c.*2209C>A (n.*2209C>A)
c.1686C>A (p.Gly562=)
c.1275C>A (p.Gly425=)
c.1215C>A (p.Gly405=)
c.1899C>A (p.Gly633=)
c.1869C>A (p.Gly623=)
c.1743C>A (p.Gly581=)
 gnomAD v4
16g.27363518C>GCA494471083IL4Rc.2166C>G (p.Gly722=)
c.2121C>G (p.Gly707=)
c.230-585C>G (n.230-585C>G)
c.*2209C>G (n.*2209C>G)
c.1686C>G (p.Gly562=)
c.1275C>G (p.Gly425=)
c.1215C>G (p.Gly405=)
c.1899C>G (p.Gly633=)
c.1869C>G (p.Gly623=)
c.1743C>G (p.Gly581=)
16g.27363518C>TCA494471084IL4Rc.2166C>T (p.Gly722=)
c.2121C>T (p.Gly707=)
c.230-585C>T (n.230-585C>T)
c.*2209C>T (n.*2209C>T)
c.1686C>T (p.Gly562=)
c.1275C>T (p.Gly425=)
c.1215C>T (p.Gly405=)
c.1899C>T (p.Gly633=)
c.1869C>T (p.Gly623=)
c.1743C>T (p.Gly581=)
16g.27363519C>ACA395302607IL4Rc.2167C>A (p.His723Asn)
c.2122C>A (p.His708Asn)
c.230-584C>A (n.230-584C>A)
c.*2210C>A (n.*2210C>A)
c.1687C>A (p.His563Asn)
c.1276C>A (p.His426Asn)
c.1216C>A (p.His406Asn)
c.1900C>A (p.His634Asn)
c.1870C>A (p.His624Asn)
c.1744C>A (p.His582Asn)
16g.27363519C>GCA395302609IL4Rc.2167C>G (p.His723Asp)
c.2122C>G (p.His708Asp)
c.230-584C>G (n.230-584C>G)
c.*2210C>G (n.*2210C>G)
c.1687C>G (p.His563Asp)
c.1276C>G (p.His426Asp)
c.1216C>G (p.His406Asp)
c.1900C>G (p.His634Asp)
c.1870C>G (p.His624Asp)
c.1744C>G (p.His582Asp)
16g.27363519C>TCA395302612IL4Rc.2167C>T (p.His723Tyr)
c.2122C>T (p.His708Tyr)
c.230-584C>T (n.230-584C>T)
c.*2210C>T (n.*2210C>T)
c.1687C>T (p.His563Tyr)
c.1276C>T (p.His426Tyr)
c.1216C>T (p.His406Tyr)
c.1900C>T (p.His634Tyr)
c.1870C>T (p.His624Tyr)
c.1744C>T (p.His582Tyr)
16g.27363520A>CCA395302616IL4Rc.2168A>C (p.His723Pro)
c.2123A>C (p.His708Pro)
c.230-583A>C (n.230-583A>C)
c.*2211A>C (n.*2211A>C)
c.1688A>C (p.His563Pro)
c.1277A>C (p.His426Pro)
c.1217A>C (p.His406Pro)
c.1901A>C (p.His634Pro)
c.1871A>C (p.His624Pro)
c.1745A>C (p.His582Pro)
16g.27363520A>GCA395302617IL4Rc.2168A>G (p.His723Arg)
c.2123A>G (p.His708Arg)
c.230-583A>G (n.230-583A>G)
c.*2211A>G (n.*2211A>G)
c.1688A>G (p.His563Arg)
c.1277A>G (p.His426Arg)
c.1217A>G (p.His406Arg)
c.1901A>G (p.His634Arg)
c.1871A>G (p.His624Arg)
c.1745A>G (p.His582Arg)
16g.27363520A>TCA395302621IL4Rc.2168A>T (p.His723Leu)
c.2123A>T (p.His708Leu)
c.230-583A>T (n.230-583A>T)
c.*2211A>T (n.*2211A>T)
c.1688A>T (p.His563Leu)
c.1277A>T (p.His426Leu)
c.1217A>T (p.His406Leu)
c.1901A>T (p.His634Leu)
c.1871A>T (p.His624Leu)
c.1745A>T (p.His582Leu)
16g.27363521C>ACA395302627IL4Rc.2169C>A (p.His723Gln)
c.2124C>A (p.His708Gln)
c.230-582C>A (n.230-582C>A)
c.*2212C>A (n.*2212C>A)
c.1689C>A (p.His563Gln)
c.1278C>A (p.His426Gln)
c.1218C>A (p.His406Gln)
c.1902C>A (p.His634Gln)
c.1872C>A (p.His624Gln)
c.1746C>A (p.His582Gln)
 gnomAD v4
16g.27363521C>GCA395302624IL4Rc.2169C>G (p.His723Gln)
c.2124C>G (p.His708Gln)
c.230-582C>G (n.230-582C>G)
c.*2212C>G (n.*2212C>G)
c.1689C>G (p.His563Gln)
c.1278C>G (p.His426Gln)
c.1218C>G (p.His406Gln)
c.1902C>G (p.His634Gln)
c.1872C>G (p.His624Gln)
c.1746C>G (p.His582Gln)
16g.27363521C>TCA494471088IL4Rc.2169C>T (p.His723=)
c.2124C>T (p.His708=)
c.230-582C>T (n.230-582C>T)
c.*2212C>T (n.*2212C>T)
c.1689C>T (p.His563=)
c.1278C>T (p.His426=)
c.1218C>T (p.His406=)
c.1902C>T (p.His634=)
c.1872C>T (p.His624=)
c.1746C>T (p.His582=)
 gnomAD v4
16g.27363522C>ACA395302631IL4Rc.2170C>A (p.Leu724Met)
c.2125C>A (p.Leu709Met)
c.230-581C>A (n.230-581C>A)
c.*2213C>A (n.*2213C>A)
c.1690C>A (p.Leu564Met)
c.1279C>A (p.Leu427Met)
c.1219C>A (p.Leu407Met)
c.1903C>A (p.Leu635Met)
c.1873C>A (p.Leu625Met)
c.1747C>A (p.Leu583Met)
16g.27363522C>GCA395302632IL4Rc.2170C>G (p.Leu724Val)
c.2125C>G (p.Leu709Val)
c.230-581C>G (n.230-581C>G)
c.*2213C>G (n.*2213C>G)
c.1690C>G (p.Leu564Val)
c.1279C>G (p.Leu427Val)
c.1219C>G (p.Leu407Val)
c.1903C>G (p.Leu635Val)
c.1873C>G (p.Leu625Val)
c.1747C>G (p.Leu583Val)
16g.27363522C>TCA494471092IL4Rc.2170C>T (p.Leu724=)
c.2125C>T (p.Leu709=)
c.230-581C>T (n.230-581C>T)
c.*2213C>T (n.*2213C>T)
c.1690C>T (p.Leu564=)
c.1279C>T (p.Leu427=)
c.1219C>T (p.Leu407=)
c.1903C>T (p.Leu635=)
c.1873C>T (p.Leu625=)
c.1747C>T (p.Leu583=)
16g.27363523T>ACA395302633IL4Rc.2171T>A (p.Leu724Gln)
c.2126T>A (p.Leu709Gln)
c.230-580T>A (n.230-580T>A)
c.*2214T>A (n.*2214T>A)
c.1691T>A (p.Leu564Gln)
c.1280T>A (p.Leu427Gln)
c.1220T>A (p.Leu407Gln)
c.1904T>A (p.Leu635Gln)
c.1874T>A (p.Leu625Gln)
c.1748T>A (p.Leu583Gln)
16g.27363523T>CCA395302635IL4Rc.2171T>C (p.Leu724Pro)
c.2126T>C (p.Leu709Pro)
c.230-580T>C (n.230-580T>C)
c.*2214T>C (n.*2214T>C)
c.1691T>C (p.Leu564Pro)
c.1280T>C (p.Leu427Pro)
c.1220T>C (p.Leu407Pro)
c.1904T>C (p.Leu635Pro)
c.1874T>C (p.Leu625Pro)
c.1748T>C (p.Leu583Pro)
16g.27363523T>GCA395302637IL4Rc.2171T>G (p.Leu724Arg)
c.2126T>G (p.Leu709Arg)
c.230-580T>G (n.230-580T>G)
c.*2214T>G (n.*2214T>G)
c.1691T>G (p.Leu564Arg)
c.1280T>G (p.Leu427Arg)
c.1220T>G (p.Leu407Arg)
c.1904T>G (p.Leu635Arg)
c.1874T>G (p.Leu625Arg)
c.1748T>G (p.Leu583Arg)
16g.27363524G>ACA494471093IL4Rc.2172G>A (p.Leu724=)
c.2127G>A (p.Leu709=)
c.230-579G>A (n.230-579G>A)
c.*2215G>A (n.*2215G>A)
c.1692G>A (p.Leu564=)
c.1281G>A (p.Leu427=)
c.1221G>A (p.Leu407=)
c.1905G>A (p.Leu635=)
c.1875G>A (p.Leu625=)
c.1749G>A (p.Leu583=)
16g.27363524G>CCA494471095IL4Rc.2172G>C (p.Leu724=)
c.2127G>C (p.Leu709=)
c.230-579G>C (n.230-579G>C)
c.*2215G>C (n.*2215G>C)
c.1692G>C (p.Leu564=)
c.1281G>C (p.Leu427=)
c.1221G>C (p.Leu407=)
c.1905G>C (p.Leu635=)
c.1875G>C (p.Leu625=)
c.1749G>C (p.Leu583=)
16g.27363524G>TCA494471097IL4Rc.2172G>T (p.Leu724=)
c.2127G>T (p.Leu709=)
c.230-579G>T (n.230-579G>T)
c.*2215G>T (n.*2215G>T)
c.1692G>T (p.Leu564=)
c.1281G>T (p.Leu427=)
c.1221G>T (p.Leu407=)
c.1905G>T (p.Leu635=)
c.1875G>T (p.Leu625=)
c.1749G>T (p.Leu583=)
16g.27363525A>CCA395302640IL4Rc.2173A>C (p.Lys725Gln)
c.2128A>C (p.Lys710Gln)
c.230-578A>C (n.230-578A>C)
c.*2216A>C (n.*2216A>C)
c.1693A>C (p.Lys565Gln)
c.1282A>C (p.Lys428Gln)
c.1222A>C (p.Lys408Gln)
c.1906A>C (p.Lys636Gln)
c.1876A>C (p.Lys626Gln)
c.1750A>C (p.Lys584Gln)
16g.27363525A>GCA395302643IL4Rc.2173A>G (p.Lys725Glu)
c.2128A>G (p.Lys710Glu)
c.230-578A>G (n.230-578A>G)
c.*2216A>G (n.*2216A>G)
c.1693A>G (p.Lys565Glu)
c.1282A>G (p.Lys428Glu)
c.1222A>G (p.Lys408Glu)
c.1906A>G (p.Lys636Glu)
c.1876A>G (p.Lys626Glu)
c.1750A>G (p.Lys584Glu)
16g.27363525A>TCA395302646IL4Rc.2173A>T (p.Lys725Ter)
c.2128A>T (p.Lys710Ter)
c.230-578A>T (n.230-578A>T)
c.*2216A>T (n.*2216A>T)
c.1693A>T (p.Lys565Ter)
c.1282A>T (p.Lys428Ter)
c.1222A>T (p.Lys408Ter)
c.1906A>T (p.Lys636Ter)
c.1876A>T (p.Lys626Ter)
c.1750A>T (p.Lys584Ter)
16g.27363526A>CCA395302650IL4Rc.2174A>C (p.Lys725Thr)
c.2129A>C (p.Lys710Thr)
c.230-577A>C (n.230-577A>C)
c.*2217A>C (n.*2217A>C)
c.1694A>C (p.Lys565Thr)
c.1283A>C (p.Lys428Thr)
c.1223A>C (p.Lys408Thr)
c.1907A>C (p.Lys636Thr)
c.1877A>C (p.Lys626Thr)
c.1751A>C (p.Lys584Thr)
16g.27363526A>GCA395302653IL4Rc.2174A>G (p.Lys725Arg)
c.2129A>G (p.Lys710Arg)
c.230-577A>G (n.230-577A>G)
c.*2217A>G (n.*2217A>G)
c.1694A>G (p.Lys565Arg)
c.1283A>G (p.Lys428Arg)
c.1223A>G (p.Lys408Arg)
c.1907A>G (p.Lys636Arg)
c.1877A>G (p.Lys626Arg)
c.1751A>G (p.Lys584Arg)
16g.27363526A>TCA395302656IL4Rc.2174A>T (p.Lys725Ile)
c.2129A>T (p.Lys710Ile)
c.230-577A>T (n.230-577A>T)
c.*2217A>T (n.*2217A>T)
c.1694A>T (p.Lys565Ile)
c.1283A>T (p.Lys428Ile)
c.1223A>T (p.Lys408Ile)
c.1907A>T (p.Lys636Ile)
c.1877A>T (p.Lys626Ile)
c.1751A>T (p.Lys584Ile)
16g.27363527A>CCA395302660IL4Rc.2175A>C (p.Lys725Asn)
c.2130A>C (p.Lys710Asn)
c.230-576A>C (n.230-576A>C)
c.*2218A>C (n.*2218A>C)
c.1695A>C (p.Lys565Asn)
c.1284A>C (p.Lys428Asn)
c.1224A>C (p.Lys408Asn)
c.1908A>C (p.Lys636Asn)
c.1878A>C (p.Lys626Asn)
c.1752A>C (p.Lys584Asn)
16g.27363527A>GCA494471104IL4Rc.2175A>G (p.Lys725=)
c.2130A>G (p.Lys710=)
c.230-576A>G (n.230-576A>G)
c.*2218A>G (n.*2218A>G)
c.1695A>G (p.Lys565=)
c.1284A>G (p.Lys428=)
c.1224A>G (p.Lys408=)
c.1908A>G (p.Lys636=)
c.1878A>G (p.Lys626=)
c.1752A>G (p.Lys584=)
16g.27363527A>TCA395302663IL4Rc.2175A>T (p.Lys725Asn)
c.2130A>T (p.Lys710Asn)
c.230-576A>T (n.230-576A>T)
c.*2218A>T (n.*2218A>T)
c.1695A>T (p.Lys565Asn)
c.1284A>T (p.Lys428Asn)
c.1224A>T (p.Lys408Asn)
c.1908A>T (p.Lys636Asn)
c.1878A>T (p.Lys626Asn)
c.1752A>T (p.Lys584Asn)
16g.27363528C>ACA395302673IL4Rc.2176C>A (p.Gln726Lys)
c.2131C>A (p.Gln711Lys)
c.230-575C>A (n.230-575C>A)
c.*2219C>A (n.*2219C>A)
c.1696C>A (p.Gln566Lys)
c.1285C>A (p.Gln429Lys)
c.1225C>A (p.Gln409Lys)
c.1909C>A (p.Gln637Lys)
c.1879C>A (p.Gln627Lys)
c.1753C>A (p.Gln585Lys)
16g.27363528C=CA2215170631IL4Rc.2176C= (p.Gln726=)
c.2131C= (p.Gln711=)
c.230-575C= (n.230-575C=)
c.*2219C= (n.*2219C=)
c.1696C= (p.Gln566=)
c.1285C= (p.Gln429=)
c.1225C= (p.Gln409=)
c.1909C= (p.Gln637=)
c.1879C= (p.Gln627=)
c.1753C= (p.Gln585=)
16g.27363528C>GCA395302671IL4Rc.2176C>G (p.Gln726Glu)
c.2131C>G (p.Gln711Glu)
c.230-575C>G (n.230-575C>G)
c.*2219C>G (n.*2219C>G)
c.1696C>G (p.Gln566Glu)
c.1285C>G (p.Gln429Glu)
c.1225C>G (p.Gln409Glu)
c.1909C>G (p.Gln637Glu)
c.1879C>G (p.Gln627Glu)
c.1753C>G (p.Gln585Glu)
16g.27363528C>TCA7974702IL4Rc.2176C>T (p.Gln726Ter)
c.2131C>T (p.Gln711Ter)
c.230-575C>T (n.230-575C>T)
c.*2219C>T (n.*2219C>T)
c.1696C>T (p.Gln566Ter)
c.1285C>T (p.Gln429Ter)
c.1225C>T (p.Gln409Ter)
c.1909C>T (p.Gln637Ter)
c.1879C>T (p.Gln627Ter)
c.1753C>T (p.Gln585Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363529A>CCA395302684IL4Rc.2177A>C (p.Gln726Pro)
c.2132A>C (p.Gln711Pro)
c.230-574A>C (n.230-574A>C)
c.*2220A>C (n.*2220A>C)
c.1697A>C (p.Gln566Pro)
c.1286A>C (p.Gln429Pro)
c.1226A>C (p.Gln409Pro)
c.1910A>C (p.Gln637Pro)
c.1880A>C (p.Gln627Pro)
c.1754A>C (p.Gln585Pro)
16g.27363529A>GCA395302679IL4Rc.2177A>G (p.Gln726Arg)
c.2132A>G (p.Gln711Arg)
c.230-574A>G (n.230-574A>G)
c.*2220A>G (n.*2220A>G)
c.1697A>G (p.Gln566Arg)
c.1286A>G (p.Gln429Arg)
c.1226A>G (p.Gln409Arg)
c.1910A>G (p.Gln637Arg)
c.1880A>G (p.Gln627Arg)
c.1754A>G (p.Gln585Arg)
16g.27363529A>TCA395302682IL4Rc.2177A>T (p.Gln726Leu)
c.2132A>T (p.Gln711Leu)
c.230-574A>T (n.230-574A>T)
c.*2220A>T (n.*2220A>T)
c.1697A>T (p.Gln566Leu)
c.1286A>T (p.Gln429Leu)
c.1226A>T (p.Gln409Leu)
c.1910A>T (p.Gln637Leu)
c.1880A>T (p.Gln627Leu)
c.1754A>T (p.Gln585Leu)
16g.27363529_27363530delCA645591761IL4Rc.2177_2178del (p.Gln726LeufsTer?)
c.2132_2133del (p.Gln711LeufsTer?)
c.230-574_230-573del (n.230-574_230-573del)
c.*2220_*2221del (n.*2220_*2221del)
c.1697_1698del (p.Gln566LeufsTer?)
c.1286_1287del (p.Gln429LeufsTer?)
c.1226_1227del (p.Gln409LeufsTer?)
c.1910_1911del (p.Gln637LeufsTer?)
c.1880_1881del (p.Gln627LeufsTer?)
c.1754_1755del (p.Gln585LeufsTer?)
 COSMIC COSMIC
16g.27363530G>ACA494471110IL4Rc.2178G>A (p.Gln726=)
c.2133G>A (p.Gln711=)
c.230-573G>A (n.230-573G>A)
c.*2221G>A (n.*2221G>A)
c.1698G>A (p.Gln566=)
c.1287G>A (p.Gln429=)
c.1227G>A (p.Gln409=)
c.1911G>A (p.Gln637=)
c.1881G>A (p.Gln627=)
c.1755G>A (p.Gln585=)
16g.27363530G>CCA395302688IL4Rc.2178G>C (p.Gln726His)
c.2133G>C (p.Gln711His)
c.230-573G>C (n.230-573G>C)
c.*2221G>C (n.*2221G>C)
c.1698G>C (p.Gln566His)
c.1287G>C (p.Gln429His)
c.1227G>C (p.Gln409His)
c.1911G>C (p.Gln637His)
c.1881G>C (p.Gln627His)
c.1755G>C (p.Gln585His)
16g.27363530G>TCA395302692IL4Rc.2178G>T (p.Gln726His)
c.2133G>T (p.Gln711His)
c.230-573G>T (n.230-573G>T)
c.*2221G>T (n.*2221G>T)
c.1698G>T (p.Gln566His)
c.1287G>T (p.Gln429His)
c.1227G>T (p.Gln409His)
c.1911G>T (p.Gln637His)
c.1881G>T (p.Gln627His)
c.1755G>T (p.Gln585His)
16g.27363531T>ACA395302697IL4Rc.2179T>A (p.Cys727Ser)
c.2134T>A (p.Cys712Ser)
c.230-572T>A (n.230-572T>A)
c.*2222T>A (n.*2222T>A)
c.1699T>A (p.Cys567Ser)
c.1288T>A (p.Cys430Ser)
c.1228T>A (p.Cys410Ser)
c.1912T>A (p.Cys638Ser)
c.1882T>A (p.Cys628Ser)
c.1756T>A (p.Cys586Ser)
16g.27363531T>CCA395302700IL4Rc.2179T>C (p.Cys727Arg)
c.2134T>C (p.Cys712Arg)
c.230-572T>C (n.230-572T>C)
c.*2222T>C (n.*2222T>C)
c.1699T>C (p.Cys567Arg)
c.1288T>C (p.Cys430Arg)
c.1228T>C (p.Cys410Arg)
c.1912T>C (p.Cys638Arg)
c.1882T>C (p.Cys628Arg)
c.1756T>C (p.Cys586Arg)
16g.27363531T>GCA395302703IL4Rc.2179T>G (p.Cys727Gly)
c.2134T>G (p.Cys712Gly)
c.230-572T>G (n.230-572T>G)
c.*2222T>G (n.*2222T>G)
c.1699T>G (p.Cys567Gly)
c.1288T>G (p.Cys430Gly)
c.1228T>G (p.Cys410Gly)
c.1912T>G (p.Cys638Gly)
c.1882T>G (p.Cys628Gly)
c.1756T>G (p.Cys586Gly)
16g.27363531dupCA2632431250IL4Rc.2179dup (p.Cys727LeufsTer?)
c.2134dup (p.Cys712LeufsTer?)
c.230-572dup (n.230-572dup)
c.*2222dup (n.*2222dup)
c.1699dup (p.Cys567LeufsTer?)
c.1288dup (p.Cys430LeufsTer?)
c.1228dup (p.Cys410LeufsTer?)
c.1912dup (p.Cys638LeufsTer?)
c.1882dup (p.Cys628LeufsTer?)
c.1756dup (p.Cys586LeufsTer?)
 gnomAD v4
16g.27363543_27363574delCA2632431251IL4Rc.2191_2222del (p.Glu731SerfsTer?)
c.2146_2177del (p.Glu716SerfsTer?)
c.230-560_230-529del (n.230-560_230-529del)
c.*2234_*2265del (n.*2234_*2265del)
c.1711_1742del (p.Glu571SerfsTer?)
c.1300_1331del (p.Glu434SerfsTer?)
c.1240_1271del (p.Glu414SerfsTer?)
c.1924_1955del (p.Glu642SerfsTer?)
c.1894_1925del (p.Glu632SerfsTer?)
c.1768_1799del (p.Glu590SerfsTer?)
 gnomAD v4
16g.27363532G>ACA395302708IL4Rc.2180G>A (p.Cys727Tyr)
c.2135G>A (p.Cys712Tyr)
c.230-571G>A (n.230-571G>A)
c.*2223G>A (n.*2223G>A)
c.1700G>A (p.Cys567Tyr)
c.1289G>A (p.Cys430Tyr)
c.1229G>A (p.Cys410Tyr)
c.1913G>A (p.Cys638Tyr)
c.1883G>A (p.Cys628Tyr)
c.1757G>A (p.Cys586Tyr)
16g.27363532G>CCA395302712IL4Rc.2180G>C (p.Cys727Ser)
c.2135G>C (p.Cys712Ser)
c.230-571G>C (n.230-571G>C)
c.*2223G>C (n.*2223G>C)
c.1700G>C (p.Cys567Ser)
c.1289G>C (p.Cys430Ser)
c.1229G>C (p.Cys410Ser)
c.1913G>C (p.Cys638Ser)
c.1883G>C (p.Cys628Ser)
c.1757G>C (p.Cys586Ser)
16g.27363532G>TCA395302715IL4Rc.2180G>T (p.Cys727Phe)
c.2135G>T (p.Cys712Phe)
c.230-571G>T (n.230-571G>T)
c.*2223G>T (n.*2223G>T)
c.1700G>T (p.Cys567Phe)
c.1289G>T (p.Cys430Phe)
c.1229G>T (p.Cys410Phe)
c.1913G>T (p.Cys638Phe)
c.1883G>T (p.Cys628Phe)
c.1757G>T (p.Cys586Phe)
16g.27363533T>ACA395302719IL4Rc.2181T>A (p.Cys727Ter)
c.2136T>A (p.Cys712Ter)
c.230-570T>A (n.230-570T>A)
c.*2224T>A (n.*2224T>A)
c.1701T>A (p.Cys567Ter)
c.1290T>A (p.Cys430Ter)
c.1230T>A (p.Cys410Ter)
c.1914T>A (p.Cys638Ter)
c.1884T>A (p.Cys628Ter)
c.1758T>A (p.Cys586Ter)
16g.27363533T>CCA494471116IL4Rc.2181T>C (p.Cys727=)
c.2136T>C (p.Cys712=)
c.230-570T>C (n.230-570T>C)
c.*2224T>C (n.*2224T>C)
c.1701T>C (p.Cys567=)
c.1290T>C (p.Cys430=)
c.1230T>C (p.Cys410=)
c.1914T>C (p.Cys638=)
c.1884T>C (p.Cys628=)
c.1758T>C (p.Cys586=)
16g.27363533T>GCA395302721IL4Rc.2181T>G (p.Cys727Trp)
c.2136T>G (p.Cys712Trp)
c.230-570T>G (n.230-570T>G)
c.*2224T>G (n.*2224T>G)
c.1701T>G (p.Cys567Trp)
c.1290T>G (p.Cys430Trp)
c.1230T>G (p.Cys410Trp)
c.1914T>G (p.Cys638Trp)
c.1884T>G (p.Cys628Trp)
c.1758T>G (p.Cys586Trp)
16g.27363534C>ACA395302729IL4Rc.2182C>A (p.His728Asn)
c.2137C>A (p.His713Asn)
c.230-569C>A (n.230-569C>A)
c.*2225C>A (n.*2225C>A)
c.1702C>A (p.His568Asn)
c.1291C>A (p.His431Asn)
c.1231C>A (p.His411Asn)
c.1915C>A (p.His639Asn)
c.1885C>A (p.His629Asn)
c.1759C>A (p.His587Asn)
16g.27363534C=CA2215170634IL4Rc.2182C= (p.His728=)
c.2137C= (p.His713=)
c.230-569C= (n.230-569C=)
c.*2225C= (n.*2225C=)
c.1702C= (p.His568=)
c.1291C= (p.His431=)
c.1231C= (p.His411=)
c.1915C= (p.His639=)
c.1885C= (p.His629=)
c.1759C= (p.His587=)
16g.27363534C>GCA395302732IL4Rc.2182C>G (p.His728Asp)
c.2137C>G (p.His713Asp)
c.230-569C>G (n.230-569C>G)
c.*2225C>G (n.*2225C>G)
c.1702C>G (p.His568Asp)
c.1291C>G (p.His431Asp)
c.1231C>G (p.His411Asp)
c.1915C>G (p.His639Asp)
c.1885C>G (p.His629Asp)
c.1759C>G (p.His587Asp)
16g.27363534C>TCA279687694IL4Rc.2182C>T (p.His728Tyr)
c.2137C>T (p.His713Tyr)
c.230-569C>T (n.230-569C>T)
c.*2225C>T (n.*2225C>T)
c.1702C>T (p.His568Tyr)
c.1291C>T (p.His431Tyr)
c.1231C>T (p.His411Tyr)
c.1915C>T (p.His639Tyr)
c.1885C>T (p.His629Tyr)
c.1759C>T (p.His587Tyr)
 dbSNP gnomAD v3 gnomAD v4
16g.27363535A=CA2215170637IL4Rc.2183A= (p.His728=)
c.2138A= (p.His713=)
c.230-568A= (n.230-568A=)
c.*2226A= (n.*2226A=)
c.1703A= (p.His568=)
c.1292A= (p.His431=)
c.1232A= (p.His411=)
c.1916A= (p.His639=)
c.1886A= (p.His629=)
c.1760A= (p.His587=)
16g.27363535A>CCA395302738IL4Rc.2183A>C (p.His728Pro)
c.2138A>C (p.His713Pro)
c.230-568A>C (n.230-568A>C)
c.*2226A>C (n.*2226A>C)
c.1703A>C (p.His568Pro)
c.1292A>C (p.His431Pro)
c.1232A>C (p.His411Pro)
c.1916A>C (p.His639Pro)
c.1886A>C (p.His629Pro)
c.1760A>C (p.His587Pro)
16g.27363535A>GCA395302741IL4Rc.2183A>G (p.His728Arg)
c.2138A>G (p.His713Arg)
c.230-568A>G (n.230-568A>G)
c.*2226A>G (n.*2226A>G)
c.1703A>G (p.His568Arg)
c.1292A>G (p.His431Arg)
c.1232A>G (p.His411Arg)
c.1916A>G (p.His639Arg)
c.1886A>G (p.His629Arg)
c.1760A>G (p.His587Arg)
 dbSNP
16g.27363535A>TCA395302743IL4Rc.2183A>T (p.His728Leu)
c.2138A>T (p.His713Leu)
c.230-568A>T (n.230-568A>T)
c.*2226A>T (n.*2226A>T)
c.1703A>T (p.His568Leu)
c.1292A>T (p.His431Leu)
c.1232A>T (p.His411Leu)
c.1916A>T (p.His639Leu)
c.1886A>T (p.His629Leu)
c.1760A>T (p.His587Leu)
16g.27363536T>ACA395302747IL4Rc.2184T>A (p.His728Gln)
c.2139T>A (p.His713Gln)
c.230-567T>A (n.230-567T>A)
c.*2227T>A (n.*2227T>A)
c.1704T>A (p.His568Gln)
c.1293T>A (p.His431Gln)
c.1233T>A (p.His411Gln)
c.1917T>A (p.His639Gln)
c.1887T>A (p.His629Gln)
c.1761T>A (p.His587Gln)
16g.27363536T>CCA494471132IL4Rc.2184T>C (p.His728=)
c.2139T>C (p.His713=)
c.230-567T>C (n.230-567T>C)
c.*2227T>C (n.*2227T>C)
c.1704T>C (p.His568=)
c.1293T>C (p.His431=)
c.1233T>C (p.His411=)
c.1917T>C (p.His639=)
c.1887T>C (p.His629=)
c.1761T>C (p.His587=)
16g.27363536T>GCA395302752IL4Rc.2184T>G (p.His728Gln)
c.2139T>G (p.His713Gln)
c.230-567T>G (n.230-567T>G)
c.*2227T>G (n.*2227T>G)
c.1704T>G (p.His568Gln)
c.1293T>G (p.His431Gln)
c.1233T>G (p.His411Gln)
c.1917T>G (p.His639Gln)
c.1887T>G (p.His629Gln)
c.1761T>G (p.His587Gln)
 gnomAD v4
16g.27363537G>ACA7974703IL4Rc.2185G>A (p.Gly729Ser)
c.2140G>A (p.Gly714Ser)
c.230-566G>A (n.230-566G>A)
c.*2228G>A (n.*2228G>A)
c.1705G>A (p.Gly569Ser)
c.1294G>A (p.Gly432Ser)
c.1234G>A (p.Gly412Ser)
c.1918G>A (p.Gly640Ser)
c.1888G>A (p.Gly630Ser)
c.1762G>A (p.Gly588Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363537G>CCA279687704IL4Rc.2185G>C (p.Gly729Arg)
c.2140G>C (p.Gly714Arg)
c.230-566G>C (n.230-566G>C)
c.*2228G>C (n.*2228G>C)
c.1705G>C (p.Gly569Arg)
c.1294G>C (p.Gly432Arg)
c.1234G>C (p.Gly412Arg)
c.1918G>C (p.Gly640Arg)
c.1888G>C (p.Gly630Arg)
c.1762G>C (p.Gly588Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27363537G=CA2215170641IL4Rc.2185G= (p.Gly729=)
c.2140G= (p.Gly714=)
c.230-566G= (n.230-566G=)
c.*2228G= (n.*2228G=)
c.1705G= (p.Gly569=)
c.1294G= (p.Gly432=)
c.1234G= (p.Gly412=)
c.1918G= (p.Gly640=)
c.1888G= (p.Gly630=)
c.1762G= (p.Gly588=)
16g.27363537G>TCA395302760IL4Rc.2185G>T (p.Gly729Cys)
c.2140G>T (p.Gly714Cys)
c.230-566G>T (n.230-566G>T)
c.*2228G>T (n.*2228G>T)
c.1705G>T (p.Gly569Cys)
c.1294G>T (p.Gly432Cys)
c.1234G>T (p.Gly412Cys)
c.1918G>T (p.Gly640Cys)
c.1888G>T (p.Gly630Cys)
c.1762G>T (p.Gly588Cys)
16g.27363538G>ACA395302765IL4Rc.2186G>A (p.Gly729Asp)
c.2141G>A (p.Gly714Asp)
c.230-565G>A (n.230-565G>A)
c.*2229G>A (n.*2229G>A)
c.1706G>A (p.Gly569Asp)
c.1295G>A (p.Gly432Asp)
c.1235G>A (p.Gly412Asp)
c.1919G>A (p.Gly640Asp)
c.1889G>A (p.Gly630Asp)
c.1763G>A (p.Gly588Asp)
16g.27363538G>CCA395302770IL4Rc.2186G>C (p.Gly729Ala)
c.2141G>C (p.Gly714Ala)
c.230-565G>C (n.230-565G>C)
c.*2229G>C (n.*2229G>C)
c.1706G>C (p.Gly569Ala)
c.1295G>C (p.Gly432Ala)
c.1235G>C (p.Gly412Ala)
c.1919G>C (p.Gly640Ala)
c.1889G>C (p.Gly630Ala)
c.1763G>C (p.Gly588Ala)
16g.27363538G=CA2215170643IL4Rc.2186G= (p.Gly729=)
c.2141G= (p.Gly714=)
c.230-565G= (n.230-565G=)
c.*2229G= (n.*2229G=)
c.1706G= (p.Gly569=)
c.1295G= (p.Gly432=)
c.1235G= (p.Gly412=)
c.1919G= (p.Gly640=)
c.1889G= (p.Gly630=)
c.1763G= (p.Gly588=)
16g.27363538G>TCA395302775IL4Rc.2186G>T (p.Gly729Val)
c.2141G>T (p.Gly714Val)
c.230-565G>T (n.230-565G>T)
c.*2229G>T (n.*2229G>T)
c.1706G>T (p.Gly569Val)
c.1295G>T (p.Gly432Val)
c.1235G>T (p.Gly412Val)
c.1919G>T (p.Gly640Val)
c.1889G>T (p.Gly630Val)
c.1763G>T (p.Gly588Val)
 dbSNP
16g.27363539C>ACA494471144IL4Rc.2187C>A (p.Gly729=)
c.2142C>A (p.Gly714=)
c.230-564C>A (n.230-564C>A)
c.*2230C>A (n.*2230C>A)
c.1707C>A (p.Gly569=)
c.1296C>A (p.Gly432=)
c.1236C>A (p.Gly412=)
c.1920C>A (p.Gly640=)
c.1890C>A (p.Gly630=)
c.1764C>A (p.Gly588=)
16g.27363539C=CA2215170645IL4Rc.2187C= (p.Gly729=)
c.2142C= (p.Gly714=)
c.230-564C= (n.230-564C=)
c.*2230C= (n.*2230C=)
c.1707C= (p.Gly569=)
c.1296C= (p.Gly432=)
c.1236C= (p.Gly412=)
c.1920C= (p.Gly640=)
c.1890C= (p.Gly630=)
c.1764C= (p.Gly588=)
16g.27363539C>GCA494471143IL4Rc.2187C>G (p.Gly729=)
c.2142C>G (p.Gly714=)
c.230-564C>G (n.230-564C>G)
c.*2230C>G (n.*2230C>G)
c.1707C>G (p.Gly569=)
c.1296C>G (p.Gly432=)
c.1236C>G (p.Gly412=)
c.1920C>G (p.Gly640=)
c.1890C>G (p.Gly630=)
c.1764C>G (p.Gly588=)
16g.27363539C>TCA494471142IL4Rc.2187C>T (p.Gly729=)
c.2142C>T (p.Gly714=)
c.230-564C>T (n.230-564C>T)
c.*2230C>T (n.*2230C>T)
c.1707C>T (p.Gly569=)
c.1296C>T (p.Gly432=)
c.1236C>T (p.Gly412=)
c.1920C>T (p.Gly640=)
c.1890C>T (p.Gly630=)
c.1764C>T (p.Gly588=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27363540C>ACA395302777IL4Rc.2188C>A (p.Gln730Lys)
c.2143C>A (p.Gln715Lys)
c.230-563C>A (n.230-563C>A)
c.*2231C>A (n.*2231C>A)
c.1708C>A (p.Gln570Lys)
c.1297C>A (p.Gln433Lys)
c.1237C>A (p.Gln413Lys)
c.1921C>A (p.Gln641Lys)
c.1891C>A (p.Gln631Lys)
c.1765C>A (p.Gln589Lys)
16g.27363540C>GCA395302778IL4Rc.2188C>G (p.Gln730Glu)
c.2143C>G (p.Gln715Glu)
c.230-563C>G (n.230-563C>G)
c.*2231C>G (n.*2231C>G)
c.1708C>G (p.Gln570Glu)
c.1297C>G (p.Gln433Glu)
c.1237C>G (p.Gln413Glu)
c.1921C>G (p.Gln641Glu)
c.1891C>G (p.Gln631Glu)
c.1765C>G (p.Gln589Glu)
16g.27363540C>TCA395302781IL4Rc.2188C>T (p.Gln730Ter)
c.2143C>T (p.Gln715Ter)
c.230-563C>T (n.230-563C>T)
c.*2231C>T (n.*2231C>T)
c.1708C>T (p.Gln570Ter)
c.1297C>T (p.Gln433Ter)
c.1237C>T (p.Gln413Ter)
c.1921C>T (p.Gln641Ter)
c.1891C>T (p.Gln631Ter)
c.1765C>T (p.Gln589Ter)
16g.27363541A=CA2215170647IL4Rc.2189A= (p.Gln730=)
c.2144A= (p.Gln715=)
c.230-562A= (n.230-562A=)
c.*2232A= (n.*2232A=)
c.1709A= (p.Gln570=)
c.1298A= (p.Gln433=)
c.1238A= (p.Gln413=)
c.1922A= (p.Gln641=)
c.1892A= (p.Gln631=)
c.1766A= (p.Gln589=)
16g.27363541A>CCA395302789IL4Rc.2189A>C (p.Gln730Pro)
c.2144A>C (p.Gln715Pro)
c.230-562A>C (n.230-562A>C)
c.*2232A>C (n.*2232A>C)
c.1709A>C (p.Gln570Pro)
c.1298A>C (p.Gln433Pro)
c.1238A>C (p.Gln413Pro)
c.1922A>C (p.Gln641Pro)
c.1892A>C (p.Gln631Pro)
c.1766A>C (p.Gln589Pro)
16g.27363541A>GCA279687718IL4Rc.2189A>G (p.Gln730Arg)
c.2144A>G (p.Gln715Arg)
c.230-562A>G (n.230-562A>G)
c.*2232A>G (n.*2232A>G)
c.1709A>G (p.Gln570Arg)
c.1298A>G (p.Gln433Arg)
c.1238A>G (p.Gln413Arg)
c.1922A>G (p.Gln641Arg)
c.1892A>G (p.Gln631Arg)
c.1766A>G (p.Gln589Arg)
 dbSNP gnomAD v3 gnomAD v4
16g.27363541A>TCA395302786IL4Rc.2189A>T (p.Gln730Leu)
c.2144A>T (p.Gln715Leu)
c.230-562A>T (n.230-562A>T)
c.*2232A>T (n.*2232A>T)
c.1709A>T (p.Gln570Leu)
c.1298A>T (p.Gln433Leu)
c.1238A>T (p.Gln413Leu)
c.1922A>T (p.Gln641Leu)
c.1892A>T (p.Gln631Leu)
c.1766A>T (p.Gln589Leu)
16g.27363545_27363547delCA2632431252IL4Rc.2193_2195del (p.Glu731del)
c.2148_2150del (p.Glu716del)
c.230-558_230-556del (n.230-558_230-556del)
c.*2236_*2238del (n.*2236_*2238del)
c.1713_1715del (p.Glu571del)
c.1302_1304del (p.Glu434del)
c.1242_1244del (p.Glu414del)
c.1926_1928del (p.Glu642del)
c.1896_1898del (p.Glu632del)
c.1770_1772del (p.Glu590del)
 gnomAD v4
16g.27363542G>ACA7974704IL4Rc.2190G>A (p.Gln730=)
c.2145G>A (p.Gln715=)
c.230-561G>A (n.230-561G>A)
c.*2233G>A (n.*2233G>A)
c.1710G>A (p.Gln570=)
c.1299G>A (p.Gln433=)
c.1239G>A (p.Gln413=)
c.1923G>A (p.Gln641=)
c.1893G>A (p.Gln631=)
c.1767G>A (p.Gln589=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363542G>CCA395302799IL4Rc.2190G>C (p.Gln730His)
c.2145G>C (p.Gln715His)
c.230-561G>C (n.230-561G>C)
c.*2233G>C (n.*2233G>C)
c.1710G>C (p.Gln570His)
c.1299G>C (p.Gln433His)
c.1239G>C (p.Gln413His)
c.1923G>C (p.Gln641His)
c.1893G>C (p.Gln631His)
c.1767G>C (p.Gln589His)
16g.27363542G=CA2215170651IL4Rc.2190G= (p.Gln730=)
c.2145G= (p.Gln715=)
c.230-561G= (n.230-561G=)
c.*2233G= (n.*2233G=)
c.1710G= (p.Gln570=)
c.1299G= (p.Gln433=)
c.1239G= (p.Gln413=)
c.1923G= (p.Gln641=)
c.1893G= (p.Gln631=)
c.1767G= (p.Gln589=)
16g.27363542G>TCA395302796IL4Rc.2190G>T (p.Gln730His)
c.2145G>T (p.Gln715His)
c.230-561G>T (n.230-561G>T)
c.*2233G>T (n.*2233G>T)
c.1710G>T (p.Gln570His)
c.1299G>T (p.Gln433His)
c.1239G>T (p.Gln413His)
c.1923G>T (p.Gln641His)
c.1893G>T (p.Gln631His)
c.1767G>T (p.Gln589His)
16g.27363543G>ACA395302802IL4Rc.2191G>A (p.Glu731Lys)
c.2146G>A (p.Glu716Lys)
c.230-560G>A (n.230-560G>A)
c.*2234G>A (n.*2234G>A)
c.1711G>A (p.Glu571Lys)
c.1300G>A (p.Glu434Lys)
c.1240G>A (p.Glu414Lys)
c.1924G>A (p.Glu642Lys)
c.1894G>A (p.Glu632Lys)
c.1768G>A (p.Glu590Lys)
16g.27363543G>CCA395302803IL4Rc.2191G>C (p.Glu731Gln)
c.2146G>C (p.Glu716Gln)
c.230-560G>C (n.230-560G>C)
c.*2234G>C (n.*2234G>C)
c.1711G>C (p.Glu571Gln)
c.1300G>C (p.Glu434Gln)
c.1240G>C (p.Glu414Gln)
c.1924G>C (p.Glu642Gln)
c.1894G>C (p.Glu632Gln)
c.1768G>C (p.Glu590Gln)
16g.27363543G>TCA395302804IL4Rc.2191G>T (p.Glu731Ter)
c.2146G>T (p.Glu716Ter)
c.230-560G>T (n.230-560G>T)
c.*2234G>T (n.*2234G>T)
c.1711G>T (p.Glu571Ter)
c.1300G>T (p.Glu434Ter)
c.1240G>T (p.Glu414Ter)
c.1924G>T (p.Glu642Ter)
c.1894G>T (p.Glu632Ter)
c.1768G>T (p.Glu590Ter)
16g.27363544A>CCA395302805IL4Rc.2192A>C (p.Glu731Ala)
c.2147A>C (p.Glu716Ala)
c.230-559A>C (n.230-559A>C)
c.*2235A>C (n.*2235A>C)
c.1712A>C (p.Glu571Ala)
c.1301A>C (p.Glu434Ala)
c.1241A>C (p.Glu414Ala)
c.1925A>C (p.Glu642Ala)
c.1895A>C (p.Glu632Ala)
c.1769A>C (p.Glu590Ala)
16g.27363544A>GCA395302807IL4Rc.2192A>G (p.Glu731Gly)
c.2147A>G (p.Glu716Gly)
c.230-559A>G (n.230-559A>G)
c.*2235A>G (n.*2235A>G)
c.1712A>G (p.Glu571Gly)
c.1301A>G (p.Glu434Gly)
c.1241A>G (p.Glu414Gly)
c.1925A>G (p.Glu642Gly)
c.1895A>G (p.Glu632Gly)
c.1769A>G (p.Glu590Gly)
16g.27363544A>TCA395302810IL4Rc.2192A>T (p.Glu731Val)
c.2147A>T (p.Glu716Val)
c.230-559A>T (n.230-559A>T)
c.*2235A>T (n.*2235A>T)
c.1712A>T (p.Glu571Val)
c.1301A>T (p.Glu434Val)
c.1241A>T (p.Glu414Val)
c.1925A>T (p.Glu642Val)
c.1895A>T (p.Glu632Val)
c.1769A>T (p.Glu590Val)
16g.27363545G>ACA494471152IL4Rc.2193G>A (p.Glu731=)
c.2148G>A (p.Glu716=)
c.230-558G>A (n.230-558G>A)
c.*2236G>A (n.*2236G>A)
c.1713G>A (p.Glu571=)
c.1302G>A (p.Glu434=)
c.1242G>A (p.Glu414=)
c.1926G>A (p.Glu642=)
c.1896G>A (p.Glu632=)
c.1770G>A (p.Glu590=)
16g.27363545G>CCA395302813IL4Rc.2193G>C (p.Glu731Asp)
c.2148G>C (p.Glu716Asp)
c.230-558G>C (n.230-558G>C)
c.*2236G>C (n.*2236G>C)
c.1713G>C (p.Glu571Asp)
c.1302G>C (p.Glu434Asp)
c.1242G>C (p.Glu414Asp)
c.1926G>C (p.Glu642Asp)
c.1896G>C (p.Glu632Asp)
c.1770G>C (p.Glu590Asp)
16g.27363545G>TCA395302818IL4Rc.2193G>T (p.Glu731Asp)
c.2148G>T (p.Glu716Asp)
c.230-558G>T (n.230-558G>T)
c.*2236G>T (n.*2236G>T)
c.1713G>T (p.Glu571Asp)
c.1302G>T (p.Glu434Asp)
c.1242G>T (p.Glu414Asp)
c.1926G>T (p.Glu642Asp)
c.1896G>T (p.Glu632Asp)
c.1770G>T (p.Glu590Asp)
16g.27363546G>ACA395302831IL4Rc.2194G>A (p.Asp732Asn)
c.2149G>A (p.Asp717Asn)
c.230-557G>A (n.230-557G>A)
c.*2237G>A (n.*2237G>A)
c.1714G>A (p.Asp572Asn)
c.1303G>A (p.Asp435Asn)
c.1243G>A (p.Asp415Asn)
c.1927G>A (p.Asp643Asn)
c.1897G>A (p.Asp633Asn)
c.1771G>A (p.Asp591Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.27363546G>CCA395302834IL4Rc.2194G>C (p.Asp732His)
c.2149G>C (p.Asp717His)
c.230-557G>C (n.230-557G>C)
c.*2237G>C (n.*2237G>C)
c.1714G>C (p.Asp572His)
c.1303G>C (p.Asp435His)
c.1243G>C (p.Asp415His)
c.1927G>C (p.Asp643His)
c.1897G>C (p.Asp633His)
c.1771G>C (p.Asp591His)
16g.27363546G=CA2215170652IL4Rc.2194G= (p.Asp732=)
c.2149G= (p.Asp717=)
c.230-557G= (n.230-557G=)
c.*2237G= (n.*2237G=)
c.1714G= (p.Asp572=)
c.1303G= (p.Asp435=)
c.1243G= (p.Asp415=)
c.1927G= (p.Asp643=)
c.1897G= (p.Asp633=)
c.1771G= (p.Asp591=)
16g.27363546G>TCA395302835IL4Rc.2194G>T (p.Asp732Tyr)
c.2149G>T (p.Asp717Tyr)
c.230-557G>T (n.230-557G>T)
c.*2237G>T (n.*2237G>T)
c.1714G>T (p.Asp572Tyr)
c.1303G>T (p.Asp435Tyr)
c.1243G>T (p.Asp415Tyr)
c.1927G>T (p.Asp643Tyr)
c.1897G>T (p.Asp633Tyr)
c.1771G>T (p.Asp591Tyr)
16g.27363547A>CCA395302846IL4Rc.2195A>C (p.Asp732Ala)
c.2150A>C (p.Asp717Ala)
c.230-556A>C (n.230-556A>C)
c.*2238A>C (n.*2238A>C)
c.1715A>C (p.Asp572Ala)
c.1304A>C (p.Asp435Ala)
c.1244A>C (p.Asp415Ala)
c.1928A>C (p.Asp643Ala)
c.1898A>C (p.Asp633Ala)
c.1772A>C (p.Asp591Ala)
16g.27363547A>GCA395302838IL4Rc.2195A>G (p.Asp732Gly)
c.2150A>G (p.Asp717Gly)
c.230-556A>G (n.230-556A>G)
c.*2238A>G (n.*2238A>G)
c.1715A>G (p.Asp572Gly)
c.1304A>G (p.Asp435Gly)
c.1244A>G (p.Asp415Gly)
c.1928A>G (p.Asp643Gly)
c.1898A>G (p.Asp633Gly)
c.1772A>G (p.Asp591Gly)
16g.27363547A>TCA395302843IL4Rc.2195A>T (p.Asp732Val)
c.2150A>T (p.Asp717Val)
c.230-556A>T (n.230-556A>T)
c.*2238A>T (n.*2238A>T)
c.1715A>T (p.Asp572Val)
c.1304A>T (p.Asp435Val)
c.1244A>T (p.Asp415Val)
c.1928A>T (p.Asp643Val)
c.1898A>T (p.Asp633Val)
c.1772A>T (p.Asp591Val)
16g.27363548T>ACA395302850IL4Rc.2196T>A (p.Asp732Glu)
c.2151T>A (p.Asp717Glu)
c.230-555T>A (n.230-555T>A)
c.*2239T>A (n.*2239T>A)
c.1716T>A (p.Asp572Glu)
c.1305T>A (p.Asp435Glu)
c.1245T>A (p.Asp415Glu)
c.1929T>A (p.Asp643Glu)
c.1899T>A (p.Asp633Glu)
c.1773T>A (p.Asp591Glu)
16g.27363548T>CCA494471165IL4Rc.2196T>C (p.Asp732=)
c.2151T>C (p.Asp717=)
c.230-555T>C (n.230-555T>C)
c.*2239T>C (n.*2239T>C)
c.1716T>C (p.Asp572=)
c.1305T>C (p.Asp435=)
c.1245T>C (p.Asp415=)
c.1929T>C (p.Asp643=)
c.1899T>C (p.Asp633=)
c.1773T>C (p.Asp591=)
16g.27363548T>GCA395302852IL4Rc.2196T>G (p.Asp732Glu)
c.2151T>G (p.Asp717Glu)
c.230-555T>G (n.230-555T>G)
c.*2239T>G (n.*2239T>G)
c.1716T>G (p.Asp572Glu)
c.1305T>G (p.Asp435Glu)
c.1245T>G (p.Asp415Glu)
c.1929T>G (p.Asp643Glu)
c.1899T>G (p.Asp633Glu)
c.1773T>G (p.Asp591Glu)
16g.27363549G>ACA395302856IL4Rc.2197G>A (p.Gly733Ser)
c.2152G>A (p.Gly718Ser)
c.230-554G>A (n.230-554G>A)
c.*2240G>A (n.*2240G>A)
c.1717G>A (p.Gly573Ser)
c.1306G>A (p.Gly436Ser)
c.1246G>A (p.Gly416Ser)
c.1930G>A (p.Gly644Ser)
c.1900G>A (p.Gly634Ser)
c.1774G>A (p.Gly592Ser)
 dbSNP
16g.27363549G>CCA395302861IL4Rc.2197G>C (p.Gly733Arg)
c.2152G>C (p.Gly718Arg)
c.230-554G>C (n.230-554G>C)
c.*2240G>C (n.*2240G>C)
c.1717G>C (p.Gly573Arg)
c.1306G>C (p.Gly436Arg)
c.1246G>C (p.Gly416Arg)
c.1930G>C (p.Gly644Arg)
c.1900G>C (p.Gly634Arg)
c.1774G>C (p.Gly592Arg)
16g.27363549G=CA2215170653IL4Rc.2197G= (p.Gly733=)
c.2152G= (p.Gly718=)
c.230-554G= (n.230-554G=)
c.*2240G= (n.*2240G=)
c.1717G= (p.Gly573=)
c.1306G= (p.Gly436=)
c.1246G= (p.Gly416=)
c.1930G= (p.Gly644=)
c.1900G= (p.Gly634=)
c.1774G= (p.Gly592=)
16g.27363549G>TCA395302864IL4Rc.2197G>T (p.Gly733Cys)
c.2152G>T (p.Gly718Cys)
c.230-554G>T (n.230-554G>T)
c.*2240G>T (n.*2240G>T)
c.1717G>T (p.Gly573Cys)
c.1306G>T (p.Gly436Cys)
c.1246G>T (p.Gly416Cys)
c.1930G>T (p.Gly644Cys)
c.1900G>T (p.Gly634Cys)
c.1774G>T (p.Gly592Cys)
 gnomAD v4 COSMIC
16g.27363550G>ACA395302869IL4Rc.2198G>A (p.Gly733Asp)
c.2153G>A (p.Gly718Asp)
c.230-553G>A (n.230-553G>A)
c.*2241G>A (n.*2241G>A)
c.1718G>A (p.Gly573Asp)
c.1307G>A (p.Gly436Asp)
c.1247G>A (p.Gly416Asp)
c.1931G>A (p.Gly644Asp)
c.1901G>A (p.Gly634Asp)
c.1775G>A (p.Gly592Asp)
 gnomAD v4
16g.27363550G>CCA395302870IL4Rc.2198G>C (p.Gly733Ala)
c.2153G>C (p.Gly718Ala)
c.230-553G>C (n.230-553G>C)
c.*2241G>C (n.*2241G>C)
c.1718G>C (p.Gly573Ala)
c.1307G>C (p.Gly436Ala)
c.1247G>C (p.Gly416Ala)
c.1931G>C (p.Gly644Ala)
c.1901G>C (p.Gly634Ala)
c.1775G>C (p.Gly592Ala)
16g.27363550G>TCA395302874IL4Rc.2198G>T (p.Gly733Val)
c.2153G>T (p.Gly718Val)
c.230-553G>T (n.230-553G>T)
c.*2241G>T (n.*2241G>T)
c.1718G>T (p.Gly573Val)
c.1307G>T (p.Gly436Val)
c.1247G>T (p.Gly416Val)
c.1931G>T (p.Gly644Val)
c.1901G>T (p.Gly634Val)
c.1775G>T (p.Gly592Val)
 gnomAD v4
16g.27363551T>ACA494471170IL4Rc.2199T>A (p.Gly733=)
c.2154T>A (p.Gly718=)
c.230-552T>A (n.230-552T>A)
c.*2242T>A (n.*2242T>A)
c.1719T>A (p.Gly573=)
c.1308T>A (p.Gly436=)
c.1248T>A (p.Gly416=)
c.1932T>A (p.Gly644=)
c.1902T>A (p.Gly634=)
c.1776T>A (p.Gly592=)
16g.27363551T>CCA494471171IL4Rc.2199T>C (p.Gly733=)
c.2154T>C (p.Gly718=)
c.230-552T>C (n.230-552T>C)
c.*2242T>C (n.*2242T>C)
c.1719T>C (p.Gly573=)
c.1308T>C (p.Gly436=)
c.1248T>C (p.Gly416=)
c.1932T>C (p.Gly644=)
c.1902T>C (p.Gly634=)
c.1776T>C (p.Gly592=)
16g.27363551T>GCA494471173IL4Rc.2199T>G (p.Gly733=)
c.2154T>G (p.Gly718=)
c.230-552T>G (n.230-552T>G)
c.*2242T>G (n.*2242T>G)
c.1719T>G (p.Gly573=)
c.1308T>G (p.Gly436=)
c.1248T>G (p.Gly416=)
c.1932T>G (p.Gly644=)
c.1902T>G (p.Gly634=)
c.1776T>G (p.Gly592=)
16g.27363552G>ACA395302877IL4Rc.2200G>A (p.Gly734Ser)
c.2155G>A (p.Gly719Ser)
c.230-551G>A (n.230-551G>A)
c.*2243G>A (n.*2243G>A)
c.1720G>A (p.Gly574Ser)
c.1309G>A (p.Gly437Ser)
c.1249G>A (p.Gly417Ser)
c.1933G>A (p.Gly645Ser)
c.1903G>A (p.Gly635Ser)
c.1777G>A (p.Gly593Ser)
 gnomAD v4
16g.27363552G>CCA395302880IL4Rc.2200G>C (p.Gly734Arg)
c.2155G>C (p.Gly719Arg)
c.230-551G>C (n.230-551G>C)
c.*2243G>C (n.*2243G>C)
c.1720G>C (p.Gly574Arg)
c.1309G>C (p.Gly437Arg)
c.1249G>C (p.Gly417Arg)
c.1933G>C (p.Gly645Arg)
c.1903G>C (p.Gly635Arg)
c.1777G>C (p.Gly593Arg)
16g.27363552G>TCA395302883IL4Rc.2200G>T (p.Gly734Cys)
c.2155G>T (p.Gly719Cys)
c.230-551G>T (n.230-551G>T)
c.*2243G>T (n.*2243G>T)
c.1720G>T (p.Gly574Cys)
c.1309G>T (p.Gly437Cys)
c.1249G>T (p.Gly417Cys)
c.1933G>T (p.Gly645Cys)
c.1903G>T (p.Gly635Cys)
c.1777G>T (p.Gly593Cys)
16g.27363553G>ACA7974705IL4Rc.2201G>A (p.Gly734Asp)
c.2156G>A (p.Gly719Asp)
c.230-550G>A (n.230-550G>A)
c.*2244G>A (n.*2244G>A)
c.1721G>A (p.Gly574Asp)
c.1310G>A (p.Gly437Asp)
c.1250G>A (p.Gly417Asp)
c.1934G>A (p.Gly645Asp)
c.1904G>A (p.Gly635Asp)
c.1778G>A (p.Gly593Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363553G>CCA395302893IL4Rc.2201G>C (p.Gly734Ala)
c.2156G>C (p.Gly719Ala)
c.230-550G>C (n.230-550G>C)
c.*2244G>C (n.*2244G>C)
c.1721G>C (p.Gly574Ala)
c.1310G>C (p.Gly437Ala)
c.1250G>C (p.Gly417Ala)
c.1934G>C (p.Gly645Ala)
c.1904G>C (p.Gly635Ala)
c.1778G>C (p.Gly593Ala)
16g.27363553G=CA2215170654IL4Rc.2201G= (p.Gly734=)
c.2156G= (p.Gly719=)
c.230-550G= (n.230-550G=)
c.*2244G= (n.*2244G=)
c.1721G= (p.Gly574=)
c.1310G= (p.Gly437=)
c.1250G= (p.Gly417=)
c.1934G= (p.Gly645=)
c.1904G= (p.Gly635=)
c.1778G= (p.Gly593=)
16g.27363553G>TCA395302887IL4Rc.2201G>T (p.Gly734Val)
c.2156G>T (p.Gly719Val)
c.230-550G>T (n.230-550G>T)
c.*2244G>T (n.*2244G>T)
c.1721G>T (p.Gly574Val)
c.1310G>T (p.Gly437Val)
c.1250G>T (p.Gly417Val)
c.1934G>T (p.Gly645Val)
c.1904G>T (p.Gly635Val)
c.1778G>T (p.Gly593Val)
16g.27363554C>ACA494471179IL4Rc.2202C>A (p.Gly734=)
c.2157C>A (p.Gly719=)
c.230-549C>A (n.230-549C>A)
c.*2245C>A (n.*2245C>A)
c.1722C>A (p.Gly574=)
c.1311C>A (p.Gly437=)
c.1251C>A (p.Gly417=)
c.1935C>A (p.Gly645=)
c.1905C>A (p.Gly635=)
c.1779C>A (p.Gly593=)
16g.27363554C>GCA494471180IL4Rc.2202C>G (p.Gly734=)
c.2157C>G (p.Gly719=)
c.230-549C>G (n.230-549C>G)
c.*2245C>G (n.*2245C>G)
c.1722C>G (p.Gly574=)
c.1311C>G (p.Gly437=)
c.1251C>G (p.Gly417=)
c.1935C>G (p.Gly645=)
c.1905C>G (p.Gly635=)
c.1779C>G (p.Gly593=)
16g.27363554C>TCA494471181IL4Rc.2202C>T (p.Gly734=)
c.2157C>T (p.Gly719=)
c.230-549C>T (n.230-549C>T)
c.*2245C>T (n.*2245C>T)
c.1722C>T (p.Gly574=)
c.1311C>T (p.Gly437=)
c.1251C>T (p.Gly417=)
c.1935C>T (p.Gly645=)
c.1905C>T (p.Gly635=)
c.1779C>T (p.Gly593=)
 COSMIC
16g.27363555C>ACA395302896IL4Rc.2203C>A (p.Gln735Lys)
c.2158C>A (p.Gln720Lys)
c.230-548C>A (n.230-548C>A)
c.*2246C>A (n.*2246C>A)
c.1723C>A (p.Gln575Lys)
c.1312C>A (p.Gln438Lys)
c.1252C>A (p.Gln418Lys)
c.1936C>A (p.Gln646Lys)
c.1906C>A (p.Gln636Lys)
c.1780C>A (p.Gln594Lys)
16g.27363555C>GCA395302898IL4Rc.2203C>G (p.Gln735Glu)
c.2158C>G (p.Gln720Glu)
c.230-548C>G (n.230-548C>G)
c.*2246C>G (n.*2246C>G)
c.1723C>G (p.Gln575Glu)
c.1312C>G (p.Gln438Glu)
c.1252C>G (p.Gln418Glu)
c.1936C>G (p.Gln646Glu)
c.1906C>G (p.Gln636Glu)
c.1780C>G (p.Gln594Glu)
16g.27363555C>TCA395302900IL4Rc.2203C>T (p.Gln735Ter)
c.2158C>T (p.Gln720Ter)
c.230-548C>T (n.230-548C>T)
c.*2246C>T (n.*2246C>T)
c.1723C>T (p.Gln575Ter)
c.1312C>T (p.Gln438Ter)
c.1252C>T (p.Gln418Ter)
c.1936C>T (p.Gln646Ter)
c.1906C>T (p.Gln636Ter)
c.1780C>T (p.Gln594Ter)
 gnomAD v4 COSMIC
16g.27363556A=CA2215170655IL4Rc.2204A= (p.Gln735=)
c.2159A= (p.Gln720=)
c.230-547A= (n.230-547A=)
c.*2247A= (n.*2247A=)
c.1724A= (p.Gln575=)
c.1313A= (p.Gln438=)
c.1253A= (p.Gln418=)
c.1937A= (p.Gln646=)
c.1907A= (p.Gln636=)
c.1781A= (p.Gln594=)
16g.27363556A>CCA395302904IL4Rc.2204A>C (p.Gln735Pro)
c.2159A>C (p.Gln720Pro)
c.230-547A>C (n.230-547A>C)
c.*2247A>C (n.*2247A>C)
c.1724A>C (p.Gln575Pro)
c.1313A>C (p.Gln438Pro)
c.1253A>C (p.Gln418Pro)
c.1937A>C (p.Gln646Pro)
c.1907A>C (p.Gln636Pro)
c.1781A>C (p.Gln594Pro)
16g.27363556A>GCA7974706IL4Rc.2204A>G (p.Gln735Arg)
c.2159A>G (p.Gln720Arg)
c.230-547A>G (n.230-547A>G)
c.*2247A>G (n.*2247A>G)
c.1724A>G (p.Gln575Arg)
c.1313A>G (p.Gln438Arg)
c.1253A>G (p.Gln418Arg)
c.1937A>G (p.Gln646Arg)
c.1907A>G (p.Gln636Arg)
c.1781A>G (p.Gln594Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363556A>TCA395302909IL4Rc.2204A>T (p.Gln735Leu)
c.2159A>T (p.Gln720Leu)
c.230-547A>T (n.230-547A>T)
c.*2247A>T (n.*2247A>T)
c.1724A>T (p.Gln575Leu)
c.1313A>T (p.Gln438Leu)
c.1253A>T (p.Gln418Leu)
c.1937A>T (p.Gln646Leu)
c.1907A>T (p.Gln636Leu)
c.1781A>T (p.Gln594Leu)
16g.27363557G>ACA494471188IL4Rc.2205G>A (p.Gln735=)
c.2160G>A (p.Gln720=)
c.230-546G>A (n.230-546G>A)
c.*2248G>A (n.*2248G>A)
c.1725G>A (p.Gln575=)
c.1314G>A (p.Gln438=)
c.1254G>A (p.Gln418=)
c.1938G>A (p.Gln646=)
c.1908G>A (p.Gln636=)
c.1782G>A (p.Gln594=)
16g.27363557G>CCA395302915IL4Rc.2205G>C (p.Gln735His)
c.2160G>C (p.Gln720His)
c.230-546G>C (n.230-546G>C)
c.*2248G>C (n.*2248G>C)
c.1725G>C (p.Gln575His)
c.1314G>C (p.Gln438His)
c.1254G>C (p.Gln418His)
c.1938G>C (p.Gln646His)
c.1908G>C (p.Gln636His)
c.1782G>C (p.Gln594His)
 gnomAD v4
16g.27363557G>TCA395302912IL4Rc.2205G>T (p.Gln735His)
c.2160G>T (p.Gln720His)
c.230-546G>T (n.230-546G>T)
c.*2248G>T (n.*2248G>T)
c.1725G>T (p.Gln575His)
c.1314G>T (p.Gln438His)
c.1254G>T (p.Gln418His)
c.1938G>T (p.Gln646His)
c.1908G>T (p.Gln636His)
c.1782G>T (p.Gln594His)
16g.27363558A>CCA395302916IL4Rc.2206A>C (p.Thr736Pro)
c.2161A>C (p.Thr721Pro)
c.230-545A>C (n.230-545A>C)
c.*2249A>C (n.*2249A>C)
c.1726A>C (p.Thr576Pro)
c.1315A>C (p.Thr439Pro)
c.1255A>C (p.Thr419Pro)
c.1939A>C (p.Thr647Pro)
c.1909A>C (p.Thr637Pro)
c.1783A>C (p.Thr595Pro)
16g.27363558A>GCA395302918IL4Rc.2206A>G (p.Thr736Ala)
c.2161A>G (p.Thr721Ala)
c.230-545A>G (n.230-545A>G)
c.*2249A>G (n.*2249A>G)
c.1726A>G (p.Thr576Ala)
c.1315A>G (p.Thr439Ala)
c.1255A>G (p.Thr419Ala)
c.1939A>G (p.Thr647Ala)
c.1909A>G (p.Thr637Ala)
c.1783A>G (p.Thr595Ala)
16g.27363558A>TCA395302920IL4Rc.2206A>T (p.Thr736Ser)
c.2161A>T (p.Thr721Ser)
c.230-545A>T (n.230-545A>T)
c.*2249A>T (n.*2249A>T)
c.1726A>T (p.Thr576Ser)
c.1315A>T (p.Thr439Ser)
c.1255A>T (p.Thr419Ser)
c.1939A>T (p.Thr647Ser)
c.1909A>T (p.Thr637Ser)
c.1783A>T (p.Thr595Ser)
 gnomAD v4
16g.27363559C>ACA395302923IL4Rc.2207C>A (p.Thr736Asn)
c.2162C>A (p.Thr721Asn)
c.230-544C>A (n.230-544C>A)
c.*2250C>A (n.*2250C>A)
c.1727C>A (p.Thr576Asn)
c.1316C>A (p.Thr439Asn)
c.1256C>A (p.Thr419Asn)
c.1940C>A (p.Thr647Asn)
c.1910C>A (p.Thr637Asn)
c.1784C>A (p.Thr595Asn)
 gnomAD v4
16g.27363559C=CA2215170657IL4Rc.2207C= (p.Thr736=)
c.2162C= (p.Thr721=)
c.230-544C= (n.230-544C=)
c.*2250C= (n.*2250C=)
c.1727C= (p.Thr576=)
c.1316C= (p.Thr439=)
c.1256C= (p.Thr419=)
c.1940C= (p.Thr647=)
c.1910C= (p.Thr637=)
c.1784C= (p.Thr595=)
16g.27363559C>GCA279687768IL4Rc.2207C>G (p.Thr736Ser)
c.2162C>G (p.Thr721Ser)
c.230-544C>G (n.230-544C>G)
c.*2250C>G (n.*2250C>G)
c.1727C>G (p.Thr576Ser)
c.1316C>G (p.Thr439Ser)
c.1256C>G (p.Thr419Ser)
c.1940C>G (p.Thr647Ser)
c.1910C>G (p.Thr637Ser)
c.1784C>G (p.Thr595Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27363559C>TCA395302924IL4Rc.2207C>T (p.Thr736Ile)
c.2162C>T (p.Thr721Ile)
c.230-544C>T (n.230-544C>T)
c.*2250C>T (n.*2250C>T)
c.1727C>T (p.Thr576Ile)
c.1316C>T (p.Thr439Ile)
c.1256C>T (p.Thr419Ile)
c.1940C>T (p.Thr647Ile)
c.1910C>T (p.Thr637Ile)
c.1784C>T (p.Thr595Ile)
16g.27363560C>ACA494471195IL4Rc.2208C>A (p.Thr736=)
c.2163C>A (p.Thr721=)
c.230-543C>A (n.230-543C>A)
c.*2251C>A (n.*2251C>A)
c.1728C>A (p.Thr576=)
c.1317C>A (p.Thr439=)
c.1257C>A (p.Thr419=)
c.1941C>A (p.Thr647=)
c.1911C>A (p.Thr637=)
c.1785C>A (p.Thr595=)
16g.27363560C>GCA494471196IL4Rc.2208C>G (p.Thr736=)
c.2163C>G (p.Thr721=)
c.230-543C>G (n.230-543C>G)
c.*2251C>G (n.*2251C>G)
c.1728C>G (p.Thr576=)
c.1317C>G (p.Thr439=)
c.1257C>G (p.Thr419=)
c.1941C>G (p.Thr647=)
c.1911C>G (p.Thr637=)
c.1785C>G (p.Thr595=)
16g.27363560C>TCA494471197IL4Rc.2208C>T (p.Thr736=)
c.2163C>T (p.Thr721=)
c.230-543C>T (n.230-543C>T)
c.*2251C>T (n.*2251C>T)
c.1728C>T (p.Thr576=)
c.1317C>T (p.Thr439=)
c.1257C>T (p.Thr419=)
c.1941C>T (p.Thr647=)
c.1911C>T (p.Thr637=)
c.1785C>T (p.Thr595=)
16g.27363561C>ACA395302925IL4Rc.2209C>A (p.Pro737Thr)
c.2164C>A (p.Pro722Thr)
c.230-542C>A (n.230-542C>A)
c.*2252C>A (n.*2252C>A)
c.1729C>A (p.Pro577Thr)
c.1318C>A (p.Pro440Thr)
c.1258C>A (p.Pro420Thr)
c.1942C>A (p.Pro648Thr)
c.1912C>A (p.Pro638Thr)
c.1786C>A (p.Pro596Thr)
 gnomAD v4
16g.27363561C>GCA395302931IL4Rc.2209C>G (p.Pro737Ala)
c.2164C>G (p.Pro722Ala)
c.230-542C>G (n.230-542C>G)
c.*2252C>G (n.*2252C>G)
c.1729C>G (p.Pro577Ala)
c.1318C>G (p.Pro440Ala)
c.1258C>G (p.Pro420Ala)
c.1942C>G (p.Pro648Ala)
c.1912C>G (p.Pro638Ala)
c.1786C>G (p.Pro596Ala)
16g.27363561C>TCA395302928IL4Rc.2209C>T (p.Pro737Ser)
c.2164C>T (p.Pro722Ser)
c.230-542C>T (n.230-542C>T)
c.*2252C>T (n.*2252C>T)
c.1729C>T (p.Pro577Ser)
c.1318C>T (p.Pro440Ser)
c.1258C>T (p.Pro420Ser)
c.1942C>T (p.Pro648Ser)
c.1912C>T (p.Pro638Ser)
c.1786C>T (p.Pro596Ser)
 COSMIC
16g.27363561_27363563delinsCCTCA2215170658IL4Rc.2209_2211delinsCCT (p.Pro737=)
c.2164_2166delinsCCT (p.Pro722=)
c.230-542_230-540delinsCCT (n.230-542_230-540delinsCCT)
c.*2252_*2254delinsCCT (n.*2252_*2254delinsCCT)
c.1729_1731delinsCCT (p.Pro577=)
c.1318_1320delinsCCT (p.Pro440=)
c.1258_1260delinsCCT (p.Pro420=)
c.1942_1944delinsCCT (p.Pro648=)
c.1912_1914delinsCCT (p.Pro638=)
c.1786_1788delinsCCT (p.Pro596=)
16g.27363562C>ACA395302937IL4Rc.2210C>A (p.Pro737His)
c.2165C>A (p.Pro722His)
c.230-541C>A (n.230-541C>A)
c.*2253C>A (n.*2253C>A)
c.1730C>A (p.Pro577His)
c.1319C>A (p.Pro440His)
c.1259C>A (p.Pro420His)
c.1943C>A (p.Pro648His)
c.1913C>A (p.Pro638His)
c.1787C>A (p.Pro596His)
16g.27363562C=CA2215170662IL4Rc.2210C= (p.Pro737=)
c.2165C= (p.Pro722=)
c.230-541C= (n.230-541C=)
c.*2253C= (n.*2253C=)
c.1730C= (p.Pro577=)
c.1319C= (p.Pro440=)
c.1259C= (p.Pro420=)
c.1943C= (p.Pro648=)
c.1913C= (p.Pro638=)
c.1787C= (p.Pro596=)
16g.27363562C>GCA395302941IL4Rc.2210C>G (p.Pro737Arg)
c.2165C>G (p.Pro722Arg)
c.230-541C>G (n.230-541C>G)
c.*2253C>G (n.*2253C>G)
c.1730C>G (p.Pro577Arg)
c.1319C>G (p.Pro440Arg)
c.1259C>G (p.Pro420Arg)
c.1943C>G (p.Pro648Arg)
c.1913C>G (p.Pro638Arg)
c.1787C>G (p.Pro596Arg)
16g.27363562C>TCA279687769IL4Rc.2210C>T (p.Pro737Leu)
c.2165C>T (p.Pro722Leu)
c.230-541C>T (n.230-541C>T)
c.*2253C>T (n.*2253C>T)
c.1730C>T (p.Pro577Leu)
c.1319C>T (p.Pro440Leu)
c.1259C>T (p.Pro420Leu)
c.1943C>T (p.Pro648Leu)
c.1913C>T (p.Pro638Leu)
c.1787C>T (p.Pro596Leu)
 dbSNP gnomAD v4
16g.27363562_27363563delCA2215170660IL4Rc.2210_2211del (p.Pro737ArgfsTer?)
c.2165_2166del (p.Pro722ArgfsTer?)
c.230-541_230-540del (n.230-541_230-540del)
c.*2253_*2254del (n.*2253_*2254del)
c.1730_1731del (p.Pro577ArgfsTer?)
c.1319_1320del (p.Pro440ArgfsTer?)
c.1259_1260del (p.Pro420ArgfsTer?)
c.1943_1944del (p.Pro648ArgfsTer?)
c.1913_1914del (p.Pro638ArgfsTer?)
c.1787_1788del (p.Pro596ArgfsTer?)
 dbSNP
16g.27363563T>ACA494471205IL4Rc.2211T>A (p.Pro737=)
c.2166T>A (p.Pro722=)
c.230-540T>A (n.230-540T>A)
c.*2254T>A (n.*2254T>A)
c.1731T>A (p.Pro577=)
c.1320T>A (p.Pro440=)
c.1260T>A (p.Pro420=)
c.1944T>A (p.Pro648=)
c.1914T>A (p.Pro638=)
c.1788T>A (p.Pro596=)
16g.27363563T>CCA494471203IL4Rc.2211T>C (p.Pro737=)
c.2166T>C (p.Pro722=)
c.230-540T>C (n.230-540T>C)
c.*2254T>C (n.*2254T>C)
c.1731T>C (p.Pro577=)
c.1320T>C (p.Pro440=)
c.1260T>C (p.Pro420=)
c.1944T>C (p.Pro648=)
c.1914T>C (p.Pro638=)
c.1788T>C (p.Pro596=)
16g.27363563T>GCA494471202IL4Rc.2211T>G (p.Pro737=)
c.2166T>G (p.Pro722=)
c.230-540T>G (n.230-540T>G)
c.*2254T>G (n.*2254T>G)
c.1731T>G (p.Pro577=)
c.1320T>G (p.Pro440=)
c.1260T>G (p.Pro420=)
c.1944T>G (p.Pro648=)
c.1914T>G (p.Pro638=)
c.1788T>G (p.Pro596=)
16g.27363564G>ACA395302949IL4Rc.2212G>A (p.Val738Ile)
c.2167G>A (p.Val723Ile)
c.230-539G>A (n.230-539G>A)
c.*2255G>A (n.*2255G>A)
c.1732G>A (p.Val578Ile)
c.1321G>A (p.Val441Ile)
c.1261G>A (p.Val421Ile)
c.1945G>A (p.Val649Ile)
c.1915G>A (p.Val639Ile)
c.1789G>A (p.Val597Ile)
16g.27363564G>CCA395302952IL4Rc.2212G>C (p.Val738Leu)
c.2167G>C (p.Val723Leu)
c.230-539G>C (n.230-539G>C)
c.*2255G>C (n.*2255G>C)
c.1732G>C (p.Val578Leu)
c.1321G>C (p.Val441Leu)
c.1261G>C (p.Val421Leu)
c.1945G>C (p.Val649Leu)
c.1915G>C (p.Val639Leu)
c.1789G>C (p.Val597Leu)
 gnomAD v4
16g.27363564G>TCA395302955IL4Rc.2212G>T (p.Val738Phe)
c.2167G>T (p.Val723Phe)
c.230-539G>T (n.230-539G>T)
c.*2255G>T (n.*2255G>T)
c.1732G>T (p.Val578Phe)
c.1321G>T (p.Val441Phe)
c.1261G>T (p.Val421Phe)
c.1945G>T (p.Val649Phe)
c.1915G>T (p.Val639Phe)
c.1789G>T (p.Val597Phe)
16g.27363565T>ACA395302959IL4Rc.2213T>A (p.Val738Asp)
c.2168T>A (p.Val723Asp)
c.230-538T>A (n.230-538T>A)
c.*2256T>A (n.*2256T>A)
c.1733T>A (p.Val578Asp)
c.1322T>A (p.Val441Asp)
c.1262T>A (p.Val421Asp)
c.1946T>A (p.Val649Asp)
c.1916T>A (p.Val639Asp)
c.1790T>A (p.Val597Asp)
16g.27363565T>CCA395302962IL4Rc.2213T>C (p.Val738Ala)
c.2168T>C (p.Val723Ala)
c.230-538T>C (n.230-538T>C)
c.*2256T>C (n.*2256T>C)
c.1733T>C (p.Val578Ala)
c.1322T>C (p.Val441Ala)
c.1262T>C (p.Val421Ala)
c.1946T>C (p.Val649Ala)
c.1916T>C (p.Val639Ala)
c.1790T>C (p.Val597Ala)
16g.27363565T>GCA395302965IL4Rc.2213T>G (p.Val738Gly)
c.2168T>G (p.Val723Gly)
c.230-538T>G (n.230-538T>G)
c.*2256T>G (n.*2256T>G)
c.1733T>G (p.Val578Gly)
c.1322T>G (p.Val441Gly)
c.1262T>G (p.Val421Gly)
c.1946T>G (p.Val649Gly)
c.1916T>G (p.Val639Gly)
c.1790T>G (p.Val597Gly)
16g.27363566C>ACA494471212IL4Rc.2214C>A (p.Val738=)
c.2169C>A (p.Val723=)
c.230-537C>A (n.230-537C>A)
c.*2257C>A (n.*2257C>A)
c.1734C>A (p.Val578=)
c.1323C>A (p.Val441=)
c.1263C>A (p.Val421=)
c.1947C>A (p.Val649=)
c.1917C>A (p.Val639=)
c.1791C>A (p.Val597=)
 dbSNP gnomAD v3 gnomAD v4
16g.27363566C=CA2215170667IL4Rc.2214C= (p.Val738=)
c.2169C= (p.Val723=)
c.230-537C= (n.230-537C=)
c.*2257C= (n.*2257C=)
c.1734C= (p.Val578=)
c.1323C= (p.Val441=)
c.1263C= (p.Val421=)
c.1947C= (p.Val649=)
c.1917C= (p.Val639=)
c.1791C= (p.Val597=)
16g.27363566C>GCA494471214IL4Rc.2214C>G (p.Val738=)
c.2169C>G (p.Val723=)
c.230-537C>G (n.230-537C>G)
c.*2257C>G (n.*2257C>G)
c.1734C>G (p.Val578=)
c.1323C>G (p.Val441=)
c.1263C>G (p.Val421=)
c.1947C>G (p.Val649=)
c.1917C>G (p.Val639=)
c.1791C>G (p.Val597=)
16g.27363566C>TCA494471216IL4Rc.2214C>T (p.Val738=)
c.2169C>T (p.Val723=)
c.230-537C>T (n.230-537C>T)
c.*2257C>T (n.*2257C>T)
c.1734C>T (p.Val578=)
c.1323C>T (p.Val441=)
c.1263C>T (p.Val421=)
c.1947C>T (p.Val649=)
c.1917C>T (p.Val639=)
c.1791C>T (p.Val597=)
16g.27363567A>CCA395302969IL4Rc.2215A>C (p.Met739Leu)
c.2170A>C (p.Met724Leu)
c.230-536A>C (n.230-536A>C)
c.*2258A>C (n.*2258A>C)
c.1735A>C (p.Met579Leu)
c.1324A>C (p.Met442Leu)
c.1264A>C (p.Met422Leu)
c.1948A>C (p.Met650Leu)
c.1918A>C (p.Met640Leu)
c.1792A>C (p.Met598Leu)
 gnomAD v4
16g.27363567A>GCA395302972IL4Rc.2215A>G (p.Met739Val)
c.2170A>G (p.Met724Val)
c.230-536A>G (n.230-536A>G)
c.*2258A>G (n.*2258A>G)
c.1735A>G (p.Met579Val)
c.1324A>G (p.Met442Val)
c.1264A>G (p.Met422Val)
c.1948A>G (p.Met650Val)
c.1918A>G (p.Met640Val)
c.1792A>G (p.Met598Val)
 dbSNP gnomAD v4
16g.27363567A>TCA395302975IL4Rc.2215A>T (p.Met739Leu)
c.2170A>T (p.Met724Leu)
c.230-536A>T (n.230-536A>T)
c.*2258A>T (n.*2258A>T)
c.1735A>T (p.Met579Leu)
c.1324A>T (p.Met442Leu)
c.1264A>T (p.Met422Leu)
c.1948A>T (p.Met650Leu)
c.1918A>T (p.Met640Leu)
c.1792A>T (p.Met598Leu)
16g.27363568T>ACA395302980IL4Rc.2216T>A (p.Met739Lys)
c.2171T>A (p.Met724Lys)
c.230-535T>A (n.230-535T>A)
c.*2259T>A (n.*2259T>A)
c.1736T>A (p.Met579Lys)
c.1325T>A (p.Met442Lys)
c.1265T>A (p.Met422Lys)
c.1949T>A (p.Met650Lys)
c.1919T>A (p.Met640Lys)
c.1793T>A (p.Met598Lys)
16g.27363568T>CCA7974707IL4Rc.2216T>C (p.Met739Thr)
c.2171T>C (p.Met724Thr)
c.230-535T>C (n.230-535T>C)
c.*2259T>C (n.*2259T>C)
c.1736T>C (p.Met579Thr)
c.1325T>C (p.Met442Thr)
c.1265T>C (p.Met422Thr)
c.1949T>C (p.Met650Thr)
c.1919T>C (p.Met640Thr)
c.1793T>C (p.Met598Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363568T>GCA395302983IL4Rc.2216T>G (p.Met739Arg)
c.2171T>G (p.Met724Arg)
c.230-535T>G (n.230-535T>G)
c.*2259T>G (n.*2259T>G)
c.1736T>G (p.Met579Arg)
c.1325T>G (p.Met442Arg)
c.1265T>G (p.Met422Arg)
c.1949T>G (p.Met650Arg)
c.1919T>G (p.Met640Arg)
c.1793T>G (p.Met598Arg)
16g.27363568T=CA2215170672IL4Rc.2216T= (p.Met739=)
c.2171T= (p.Met724=)
c.230-535T= (n.230-535T=)
c.*2259T= (n.*2259T=)
c.1736T= (p.Met579=)
c.1325T= (p.Met442=)
c.1265T= (p.Met422=)
c.1949T= (p.Met650=)
c.1919T= (p.Met640=)
c.1793T= (p.Met598=)
16g.27363569G>ACA395302989IL4Rc.2217G>A (p.Met739Ile)
c.2172G>A (p.Met724Ile)
c.230-534G>A (n.230-534G>A)
c.*2260G>A (n.*2260G>A)
c.1737G>A (p.Met579Ile)
c.1326G>A (p.Met442Ile)
c.1266G>A (p.Met422Ile)
c.1950G>A (p.Met650Ile)
c.1920G>A (p.Met640Ile)
c.1794G>A (p.Met598Ile)
 dbSNP
16g.27363569G>CCA395302996IL4Rc.2217G>C (p.Met739Ile)
c.2172G>C (p.Met724Ile)
c.230-534G>C (n.230-534G>C)
c.*2260G>C (n.*2260G>C)
c.1737G>C (p.Met579Ile)
c.1326G>C (p.Met442Ile)
c.1266G>C (p.Met422Ile)
c.1950G>C (p.Met650Ile)
c.1920G>C (p.Met640Ile)
c.1794G>C (p.Met598Ile)
16g.27363569G=CA2215170407IL4Rc.2217G= (p.Met739=)
c.2172G= (p.Met724=)
c.230-534G= (n.230-534G=)
c.*2260G= (n.*2260G=)
c.1737G= (p.Met579=)
c.1326G= (p.Met442=)
c.1266G= (p.Met422=)
c.1950G= (p.Met650=)
c.1920G= (p.Met640=)
c.1794G= (p.Met598=)
16g.27363569G>TCA395302993IL4Rc.2217G>T (p.Met739Ile)
c.2172G>T (p.Met724Ile)
c.230-534G>T (n.230-534G>T)
c.*2260G>T (n.*2260G>T)
c.1737G>T (p.Met579Ile)
c.1326G>T (p.Met442Ile)
c.1266G>T (p.Met422Ile)
c.1950G>T (p.Met650Ile)
c.1920G>T (p.Met640Ile)
c.1794G>T (p.Met598Ile)
 gnomAD v4
16g.27363570G>ACA395303001IL4Rc.2218G>A (p.Ala740Thr)
c.2173G>A (p.Ala725Thr)
c.230-533G>A (n.230-533G>A)
c.*2261G>A (n.*2261G>A)
c.1738G>A (p.Ala580Thr)
c.1327G>A (p.Ala443Thr)
c.1267G>A (p.Ala423Thr)
c.1951G>A (p.Ala651Thr)
c.1921G>A (p.Ala641Thr)
c.1795G>A (p.Ala599Thr)
16g.27363570G>CCA395303004IL4Rc.2218G>C (p.Ala740Pro)
c.2173G>C (p.Ala725Pro)
c.230-533G>C (n.230-533G>C)
c.*2261G>C (n.*2261G>C)
c.1738G>C (p.Ala580Pro)
c.1327G>C (p.Ala443Pro)
c.1267G>C (p.Ala423Pro)
c.1951G>C (p.Ala651Pro)
c.1921G>C (p.Ala641Pro)
c.1795G>C (p.Ala599Pro)
16g.27363570G>TCA395303007IL4Rc.2218G>T (p.Ala740Ser)
c.2173G>T (p.Ala725Ser)
c.230-533G>T (n.230-533G>T)
c.*2261G>T (n.*2261G>T)
c.1738G>T (p.Ala580Ser)
c.1327G>T (p.Ala443Ser)
c.1267G>T (p.Ala423Ser)
c.1951G>T (p.Ala651Ser)
c.1921G>T (p.Ala641Ser)
c.1795G>T (p.Ala599Ser)
16g.27363571C>ACA395303010IL4Rc.2219C>A (p.Ala740Asp)
c.2174C>A (p.Ala725Asp)
c.230-532C>A (n.230-532C>A)
c.*2262C>A (n.*2262C>A)
c.1739C>A (p.Ala580Asp)
c.1328C>A (p.Ala443Asp)
c.1268C>A (p.Ala423Asp)
c.1952C>A (p.Ala651Asp)
c.1922C>A (p.Ala641Asp)
c.1796C>A (p.Ala599Asp)
 dbSNP gnomAD v3 gnomAD v4
16g.27363571C=CA2215170419IL4Rc.2219C= (p.Ala740=)
c.2174C= (p.Ala725=)
c.230-532C= (n.230-532C=)
c.*2262C= (n.*2262C=)
c.1739C= (p.Ala580=)
c.1328C= (p.Ala443=)
c.1268C= (p.Ala423=)
c.1952C= (p.Ala651=)
c.1922C= (p.Ala641=)
c.1796C= (p.Ala599=)
16g.27363571C>GCA395303018IL4Rc.2219C>G (p.Ala740Gly)
c.2174C>G (p.Ala725Gly)
c.230-532C>G (n.230-532C>G)
c.*2262C>G (n.*2262C>G)
c.1739C>G (p.Ala580Gly)
c.1328C>G (p.Ala443Gly)
c.1268C>G (p.Ala423Gly)
c.1952C>G (p.Ala651Gly)
c.1922C>G (p.Ala641Gly)
c.1796C>G (p.Ala599Gly)
16g.27363571C>TCA395303021IL4Rc.2219C>T (p.Ala740Val)
c.2174C>T (p.Ala725Val)
c.230-532C>T (n.230-532C>T)
c.*2262C>T (n.*2262C>T)
c.1739C>T (p.Ala580Val)
c.1328C>T (p.Ala443Val)
c.1268C>T (p.Ala423Val)
c.1952C>T (p.Ala651Val)
c.1922C>T (p.Ala641Val)
c.1796C>T (p.Ala599Val)
16g.27363572C>ACA494471227IL4Rc.2220C>A (p.Ala740=)
c.2175C>A (p.Ala725=)
c.230-531C>A (n.230-531C>A)
c.*2263C>A (n.*2263C>A)
c.1740C>A (p.Ala580=)
c.1329C>A (p.Ala443=)
c.1269C>A (p.Ala423=)
c.1953C>A (p.Ala651=)
c.1923C>A (p.Ala641=)
c.1797C>A (p.Ala599=)
 gnomAD v4
16g.27363572C>GCA494471229IL4Rc.2220C>G (p.Ala740=)
c.2175C>G (p.Ala725=)
c.230-531C>G (n.230-531C>G)
c.*2263C>G (n.*2263C>G)
c.1740C>G (p.Ala580=)
c.1329C>G (p.Ala443=)
c.1269C>G (p.Ala423=)
c.1953C>G (p.Ala651=)
c.1923C>G (p.Ala641=)
c.1797C>G (p.Ala599=)
16g.27363572C>TCA494471231IL4Rc.2220C>T (p.Ala740=)
c.2175C>T (p.Ala725=)
c.230-531C>T (n.230-531C>T)
c.*2263C>T (n.*2263C>T)
c.1740C>T (p.Ala580=)
c.1329C>T (p.Ala443=)
c.1269C>T (p.Ala423=)
c.1953C>T (p.Ala651=)
c.1923C>T (p.Ala641=)
c.1797C>T (p.Ala599=)
 gnomAD v4
16g.27363573A>CCA395303031IL4Rc.2221A>C (p.Ser741Arg)
c.2176A>C (p.Ser726Arg)
c.230-530A>C (n.230-530A>C)
c.*2264A>C (n.*2264A>C)
c.1741A>C (p.Ser581Arg)
c.1330A>C (p.Ser444Arg)
c.1270A>C (p.Ser424Arg)
c.1954A>C (p.Ser652Arg)
c.1924A>C (p.Ser642Arg)
c.1798A>C (p.Ser600Arg)
16g.27363573A>GCA395303035IL4Rc.2221A>G (p.Ser741Gly)
c.2176A>G (p.Ser726Gly)
c.230-530A>G (n.230-530A>G)
c.*2264A>G (n.*2264A>G)
c.1741A>G (p.Ser581Gly)
c.1330A>G (p.Ser444Gly)
c.1270A>G (p.Ser424Gly)
c.1954A>G (p.Ser652Gly)
c.1924A>G (p.Ser642Gly)
c.1798A>G (p.Ser600Gly)
 gnomAD v4
16g.27363573A>TCA395303038IL4Rc.2221A>T (p.Ser741Cys)
c.2176A>T (p.Ser726Cys)
c.230-530A>T (n.230-530A>T)
c.*2264A>T (n.*2264A>T)
c.1741A>T (p.Ser581Cys)
c.1330A>T (p.Ser444Cys)
c.1270A>T (p.Ser424Cys)
c.1954A>T (p.Ser652Cys)
c.1924A>T (p.Ser642Cys)
c.1798A>T (p.Ser600Cys)
16g.27363574G>ACA395303042IL4Rc.2222G>A (p.Ser741Asn)
c.2177G>A (p.Ser726Asn)
c.230-529G>A (n.230-529G>A)
c.*2265G>A (n.*2265G>A)
c.1742G>A (p.Ser581Asn)
c.1331G>A (p.Ser444Asn)
c.1271G>A (p.Ser424Asn)
c.1955G>A (p.Ser652Asn)
c.1925G>A (p.Ser642Asn)
c.1799G>A (p.Ser600Asn)
16g.27363574G>CCA395303048IL4Rc.2222G>C (p.Ser741Thr)
c.2177G>C (p.Ser726Thr)
c.230-529G>C (n.230-529G>C)
c.*2265G>C (n.*2265G>C)
c.1742G>C (p.Ser581Thr)
c.1331G>C (p.Ser444Thr)
c.1271G>C (p.Ser424Thr)
c.1955G>C (p.Ser652Thr)
c.1925G>C (p.Ser642Thr)
c.1799G>C (p.Ser600Thr)
16g.27363574G>TCA395303051IL4Rc.2222G>T (p.Ser741Ile)
c.2177G>T (p.Ser726Ile)
c.230-529G>T (n.230-529G>T)
c.*2265G>T (n.*2265G>T)
c.1742G>T (p.Ser581Ile)
c.1331G>T (p.Ser444Ile)
c.1271G>T (p.Ser424Ile)
c.1955G>T (p.Ser652Ile)
c.1925G>T (p.Ser642Ile)
c.1799G>T (p.Ser600Ile)
16g.27363575T>ACA395303056IL4Rc.2223T>A (p.Ser741Arg)
c.2178T>A (p.Ser726Arg)
c.230-528T>A (n.230-528T>A)
c.*2266T>A (n.*2266T>A)
c.1743T>A (p.Ser581Arg)
c.1332T>A (p.Ser444Arg)
c.1272T>A (p.Ser424Arg)
c.1956T>A (p.Ser652Arg)
c.1926T>A (p.Ser642Arg)
c.1800T>A (p.Ser600Arg)
16g.27363575T>CCA494471237IL4Rc.2223T>C (p.Ser741=)
c.2178T>C (p.Ser726=)
c.230-528T>C (n.230-528T>C)
c.*2266T>C (n.*2266T>C)
c.1743T>C (p.Ser581=)
c.1332T>C (p.Ser444=)
c.1272T>C (p.Ser424=)
c.1956T>C (p.Ser652=)
c.1926T>C (p.Ser642=)
c.1800T>C (p.Ser600=)
16g.27363575T>GCA7974708IL4Rc.2223T>G (p.Ser741Arg)
c.2178T>G (p.Ser726Arg)
c.230-528T>G (n.230-528T>G)
c.*2266T>G (n.*2266T>G)
c.1743T>G (p.Ser581Arg)
c.1332T>G (p.Ser444Arg)
c.1272T>G (p.Ser424Arg)
c.1956T>G (p.Ser652Arg)
c.1926T>G (p.Ser642Arg)
c.1800T>G (p.Ser600Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363575T=CA2215170425IL4Rc.2223T= (p.Ser741=)
c.2178T= (p.Ser726=)
c.230-528T= (n.230-528T=)
c.*2266T= (n.*2266T=)
c.1743T= (p.Ser581=)
c.1332T= (p.Ser444=)
c.1272T= (p.Ser424=)
c.1956T= (p.Ser652=)
c.1926T= (p.Ser642=)
c.1800T= (p.Ser600=)
16g.27363576C>ACA7974710IL4Rc.2224C>A (p.Pro742Thr)
c.2179C>A (p.Pro727Thr)
c.230-527C>A (n.230-527C>A)
c.*2267C>A (n.*2267C>A)
c.1744C>A (p.Pro582Thr)
c.1333C>A (p.Pro445Thr)
c.1273C>A (p.Pro425Thr)
c.1957C>A (p.Pro653Thr)
c.1927C>A (p.Pro643Thr)
c.1801C>A (p.Pro601Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363576C=CA2215170433IL4Rc.2224C= (p.Pro742=)
c.2179C= (p.Pro727=)
c.230-527C= (n.230-527C=)
c.*2267C= (n.*2267C=)
c.1744C= (p.Pro582=)
c.1333C= (p.Pro445=)
c.1273C= (p.Pro425=)
c.1957C= (p.Pro653=)
c.1927C= (p.Pro643=)
c.1801C= (p.Pro601=)
16g.27363576C>GCA7974709IL4Rc.2224C>G (p.Pro742Ala)
c.2179C>G (p.Pro727Ala)
c.230-527C>G (n.230-527C>G)
c.*2267C>G (n.*2267C>G)
c.1744C>G (p.Pro582Ala)
c.1333C>G (p.Pro445Ala)
c.1273C>G (p.Pro425Ala)
c.1957C>G (p.Pro653Ala)
c.1927C>G (p.Pro643Ala)
c.1801C>G (p.Pro601Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363576C>TCA395303066IL4Rc.2224C>T (p.Pro742Ser)
c.2179C>T (p.Pro727Ser)
c.230-527C>T (n.230-527C>T)
c.*2267C>T (n.*2267C>T)
c.1744C>T (p.Pro582Ser)
c.1333C>T (p.Pro445Ser)
c.1273C>T (p.Pro425Ser)
c.1957C>T (p.Pro653Ser)
c.1927C>T (p.Pro643Ser)
c.1801C>T (p.Pro601Ser)
 COSMIC
16g.27363577C>ACA395303071IL4Rc.2225C>A (p.Pro742His)
c.2180C>A (p.Pro727His)
c.230-526C>A (n.230-526C>A)
c.*2268C>A (n.*2268C>A)
c.1745C>A (p.Pro582His)
c.1334C>A (p.Pro445His)
c.1274C>A (p.Pro425His)
c.1958C>A (p.Pro653His)
c.1928C>A (p.Pro643His)
c.1802C>A (p.Pro601His)
16g.27363577C>GCA395303074IL4Rc.2225C>G (p.Pro742Arg)
c.2180C>G (p.Pro727Arg)
c.230-526C>G (n.230-526C>G)
c.*2268C>G (n.*2268C>G)
c.1745C>G (p.Pro582Arg)
c.1334C>G (p.Pro445Arg)
c.1274C>G (p.Pro425Arg)
c.1958C>G (p.Pro653Arg)
c.1928C>G (p.Pro643Arg)
c.1802C>G (p.Pro601Arg)
16g.27363577C>TCA395303081IL4Rc.2225C>T (p.Pro742Leu)
c.2180C>T (p.Pro727Leu)
c.230-526C>T (n.230-526C>T)
c.*2268C>T (n.*2268C>T)
c.1745C>T (p.Pro582Leu)
c.1334C>T (p.Pro445Leu)
c.1274C>T (p.Pro425Leu)
c.1958C>T (p.Pro653Leu)
c.1928C>T (p.Pro643Leu)
c.1802C>T (p.Pro601Leu)
16g.27363578T>ACA494471244IL4Rc.2226T>A (p.Pro742=)
c.2181T>A (p.Pro727=)
c.230-525T>A (n.230-525T>A)
c.*2269T>A (n.*2269T>A)
c.1746T>A (p.Pro582=)
c.1335T>A (p.Pro445=)
c.1275T>A (p.Pro425=)
c.1959T>A (p.Pro653=)
c.1929T>A (p.Pro643=)
c.1803T>A (p.Pro601=)
16g.27363578T>CCA494471245IL4Rc.2226T>C (p.Pro742=)
c.2181T>C (p.Pro727=)
c.230-525T>C (n.230-525T>C)
c.*2269T>C (n.*2269T>C)
c.1746T>C (p.Pro582=)
c.1335T>C (p.Pro445=)
c.1275T>C (p.Pro425=)
c.1959T>C (p.Pro653=)
c.1929T>C (p.Pro643=)
c.1803T>C (p.Pro601=)
 dbSNP
16g.27363578T>GCA494471247IL4Rc.2226T>G (p.Pro742=)
c.2181T>G (p.Pro727=)
c.230-525T>G (n.230-525T>G)
c.*2269T>G (n.*2269T>G)
c.1746T>G (p.Pro582=)
c.1335T>G (p.Pro445=)
c.1275T>G (p.Pro425=)
c.1959T>G (p.Pro653=)
c.1929T>G (p.Pro643=)
c.1803T>G (p.Pro601=)
16g.27363579T>ACA395303086IL4Rc.2227T>A (p.Cys743Ser)
c.2182T>A (p.Cys728Ser)
c.230-524T>A (n.230-524T>A)
c.*2270T>A (n.*2270T>A)
c.1747T>A (p.Cys583Ser)
c.1336T>A (p.Cys446Ser)
c.1276T>A (p.Cys426Ser)
c.1960T>A (p.Cys654Ser)
c.1930T>A (p.Cys644Ser)
c.1804T>A (p.Cys602Ser)
16g.27363579T>CCA395303088IL4Rc.2227T>C (p.Cys743Arg)
c.2182T>C (p.Cys728Arg)
c.230-524T>C (n.230-524T>C)
c.*2270T>C (n.*2270T>C)
c.1747T>C (p.Cys583Arg)
c.1336T>C (p.Cys446Arg)
c.1276T>C (p.Cys426Arg)
c.1960T>C (p.Cys654Arg)
c.1930T>C (p.Cys644Arg)
c.1804T>C (p.Cys602Arg)
16g.27363579T>GCA395303091IL4Rc.2227T>G (p.Cys743Gly)
c.2182T>G (p.Cys728Gly)
c.230-524T>G (n.230-524T>G)
c.*2270T>G (n.*2270T>G)
c.1747T>G (p.Cys583Gly)
c.1336T>G (p.Cys446Gly)
c.1276T>G (p.Cys426Gly)
c.1960T>G (p.Cys654Gly)
c.1930T>G (p.Cys644Gly)
c.1804T>G (p.Cys602Gly)
16g.27363587_27363598delCA2632431253IL4Rc.2235_2246del (p.Cys746_Gly749del)
c.2190_2201del (p.Cys731_Gly734del)
c.230-516_230-505del (n.230-516_230-505del)
c.*2278_*2289del (n.*2278_*2289del)
c.1755_1766del (p.Cys586_Gly589del)
c.1344_1355del (p.Cys449_Gly452del)
c.1284_1295del (p.Cys429_Gly432del)
c.1968_1979del (p.Cys657_Gly660del)
c.1938_1949del (p.Cys647_Gly650del)
c.1812_1823del (p.Cys605_Gly608del)
 gnomAD v4
16g.27363580G>ACA395304575IL4Rc.2228G>A (p.Cys743Tyr)
c.2183G>A (p.Cys728Tyr)
c.230-523G>A (n.230-523G>A)
c.*2271G>A (n.*2271G>A)
c.1748G>A (p.Cys583Tyr)
c.1337G>A (p.Cys446Tyr)
c.1277G>A (p.Cys426Tyr)
c.1961G>A (p.Cys654Tyr)
c.1931G>A (p.Cys644Tyr)
c.1805G>A (p.Cys602Tyr)
16g.27363580G>CCA395304578IL4Rc.2228G>C (p.Cys743Ser)
c.2183G>C (p.Cys728Ser)
c.230-523G>C (n.230-523G>C)
c.*2271G>C (n.*2271G>C)
c.1748G>C (p.Cys583Ser)
c.1337G>C (p.Cys446Ser)
c.1277G>C (p.Cys426Ser)
c.1961G>C (p.Cys654Ser)
c.1931G>C (p.Cys644Ser)
c.1805G>C (p.Cys602Ser)
16g.27363580G>TCA395304581IL4Rc.2228G>T (p.Cys743Phe)
c.2183G>T (p.Cys728Phe)
c.230-523G>T (n.230-523G>T)
c.*2271G>T (n.*2271G>T)
c.1748G>T (p.Cys583Phe)
c.1337G>T (p.Cys446Phe)
c.1277G>T (p.Cys426Phe)
c.1961G>T (p.Cys654Phe)
c.1931G>T (p.Cys644Phe)
c.1805G>T (p.Cys602Phe)
 gnomAD v4
16g.27363581C>ACA395304589IL4Rc.2229C>A (p.Cys743Ter)
c.2184C>A (p.Cys728Ter)
c.230-522C>A (n.230-522C>A)
c.*2272C>A (n.*2272C>A)
c.1749C>A (p.Cys583Ter)
c.1338C>A (p.Cys446Ter)
c.1278C>A (p.Cys426Ter)
c.1962C>A (p.Cys654Ter)
c.1932C>A (p.Cys644Ter)
c.1806C>A (p.Cys602Ter)
16g.27363581C=CA2215170441IL4Rc.2229C= (p.Cys743=)
c.2184C= (p.Cys728=)
c.230-522C= (n.230-522C=)
c.*2272C= (n.*2272C=)
c.1749C= (p.Cys583=)
c.1338C= (p.Cys446=)
c.1278C= (p.Cys426=)
c.1962C= (p.Cys654=)
c.1932C= (p.Cys644=)
c.1806C= (p.Cys602=)
16g.27363581C>GCA395304586IL4Rc.2229C>G (p.Cys743Trp)
c.2184C>G (p.Cys728Trp)
c.230-522C>G (n.230-522C>G)
c.*2272C>G (n.*2272C>G)
c.1749C>G (p.Cys583Trp)
c.1338C>G (p.Cys446Trp)
c.1278C>G (p.Cys426Trp)
c.1962C>G (p.Cys654Trp)
c.1932C>G (p.Cys644Trp)
c.1806C>G (p.Cys602Trp)
 COSMIC
16g.27363581C>TCA7974711IL4Rc.2229C>T (p.Cys743=)
c.2184C>T (p.Cys728=)
c.230-522C>T (n.230-522C>T)
c.*2272C>T (n.*2272C>T)
c.1749C>T (p.Cys583=)
c.1338C>T (p.Cys446=)
c.1278C>T (p.Cys426=)
c.1962C>T (p.Cys654=)
c.1932C>T (p.Cys644=)
c.1806C>T (p.Cys602=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363582T>ACA395304596IL4Rc.2230T>A (p.Cys744Ser)
c.2185T>A (p.Cys729Ser)
c.230-521T>A (n.230-521T>A)
c.*2273T>A (n.*2273T>A)
c.1750T>A (p.Cys584Ser)
c.1339T>A (p.Cys447Ser)
c.1279T>A (p.Cys427Ser)
c.1963T>A (p.Cys655Ser)
c.1933T>A (p.Cys645Ser)
c.1807T>A (p.Cys603Ser)
16g.27363582T>CCA395304592IL4Rc.2230T>C (p.Cys744Arg)
c.2185T>C (p.Cys729Arg)
c.230-521T>C (n.230-521T>C)
c.*2273T>C (n.*2273T>C)
c.1750T>C (p.Cys584Arg)
c.1339T>C (p.Cys447Arg)
c.1279T>C (p.Cys427Arg)
c.1963T>C (p.Cys655Arg)
c.1933T>C (p.Cys645Arg)
c.1807T>C (p.Cys603Arg)
 gnomAD v4
16g.27363582T>GCA395304594IL4Rc.2230T>G (p.Cys744Gly)
c.2185T>G (p.Cys729Gly)
c.230-521T>G (n.230-521T>G)
c.*2273T>G (n.*2273T>G)
c.1750T>G (p.Cys584Gly)
c.1339T>G (p.Cys447Gly)
c.1279T>G (p.Cys427Gly)
c.1963T>G (p.Cys655Gly)
c.1933T>G (p.Cys645Gly)
c.1807T>G (p.Cys603Gly)
16g.27363583G>ACA395304599IL4Rc.2231G>A (p.Cys744Tyr)
c.2186G>A (p.Cys729Tyr)
c.230-520G>A (n.230-520G>A)
c.*2274G>A (n.*2274G>A)
c.1751G>A (p.Cys584Tyr)
c.1340G>A (p.Cys447Tyr)
c.1280G>A (p.Cys427Tyr)
c.1964G>A (p.Cys655Tyr)
c.1934G>A (p.Cys645Tyr)
c.1808G>A (p.Cys603Tyr)
16g.27363583G>CCA395304602IL4Rc.2231G>C (p.Cys744Ser)
c.2186G>C (p.Cys729Ser)
c.230-520G>C (n.230-520G>C)
c.*2274G>C (n.*2274G>C)
c.1751G>C (p.Cys584Ser)
c.1340G>C (p.Cys447Ser)
c.1280G>C (p.Cys427Ser)
c.1964G>C (p.Cys655Ser)
c.1934G>C (p.Cys645Ser)
c.1808G>C (p.Cys603Ser)
16g.27363583G>TCA395304604IL4Rc.2231G>T (p.Cys744Phe)
c.2186G>T (p.Cys729Phe)
c.230-520G>T (n.230-520G>T)
c.*2274G>T (n.*2274G>T)
c.1751G>T (p.Cys584Phe)
c.1340G>T (p.Cys447Phe)
c.1280G>T (p.Cys427Phe)
c.1964G>T (p.Cys655Phe)
c.1934G>T (p.Cys645Phe)
c.1808G>T (p.Cys603Phe)
16g.27363584T>ACA395304608IL4Rc.2232T>A (p.Cys744Ter)
c.2187T>A (p.Cys729Ter)
c.230-519T>A (n.230-519T>A)
c.*2275T>A (n.*2275T>A)
c.1752T>A (p.Cys584Ter)
c.1341T>A (p.Cys447Ter)
c.1281T>A (p.Cys427Ter)
c.1965T>A (p.Cys655Ter)
c.1935T>A (p.Cys645Ter)
c.1809T>A (p.Cys603Ter)
16g.27363584T>CCA494470664IL4Rc.2232T>C (p.Cys744=)
c.2187T>C (p.Cys729=)
c.230-519T>C (n.230-519T>C)
c.*2275T>C (n.*2275T>C)
c.1752T>C (p.Cys584=)
c.1341T>C (p.Cys447=)
c.1281T>C (p.Cys427=)
c.1965T>C (p.Cys655=)
c.1935T>C (p.Cys645=)
c.1809T>C (p.Cys603=)
16g.27363584T>GCA395304609IL4Rc.2232T>G (p.Cys744Trp)
c.2187T>G (p.Cys729Trp)
c.230-519T>G (n.230-519T>G)
c.*2275T>G (n.*2275T>G)
c.1752T>G (p.Cys584Trp)
c.1341T>G (p.Cys447Trp)
c.1281T>G (p.Cys427Trp)
c.1965T>G (p.Cys655Trp)
c.1935T>G (p.Cys645Trp)
c.1809T>G (p.Cys603Trp)
16g.27363585G>ACA395304612IL4Rc.2233G>A (p.Gly745Ser)
c.2188G>A (p.Gly730Ser)
c.230-518G>A (n.230-518G>A)
c.*2276G>A (n.*2276G>A)
c.1753G>A (p.Gly585Ser)
c.1342G>A (p.Gly448Ser)
c.1282G>A (p.Gly428Ser)
c.1966G>A (p.Gly656Ser)
c.1936G>A (p.Gly646Ser)
c.1810G>A (p.Gly604Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.27363585G>CCA395304614IL4Rc.2233G>C (p.Gly745Arg)
c.2188G>C (p.Gly730Arg)
c.230-518G>C (n.230-518G>C)
c.*2276G>C (n.*2276G>C)
c.1753G>C (p.Gly585Arg)
c.1342G>C (p.Gly448Arg)
c.1282G>C (p.Gly428Arg)
c.1966G>C (p.Gly656Arg)
c.1936G>C (p.Gly646Arg)
c.1810G>C (p.Gly604Arg)
16g.27363585G=CA2215170444IL4Rc.2233G= (p.Gly745=)
c.2188G= (p.Gly730=)
c.230-518G= (n.230-518G=)
c.*2276G= (n.*2276G=)
c.1753G= (p.Gly585=)
c.1342G= (p.Gly448=)
c.1282G= (p.Gly428=)
c.1966G= (p.Gly656=)
c.1936G= (p.Gly646=)
c.1810G= (p.Gly604=)
16g.27363585G>TCA395304617IL4Rc.2233G>T (p.Gly745Cys)
c.2188G>T (p.Gly730Cys)
c.230-518G>T (n.230-518G>T)
c.*2276G>T (n.*2276G>T)
c.1753G>T (p.Gly585Cys)
c.1342G>T (p.Gly448Cys)
c.1282G>T (p.Gly428Cys)
c.1966G>T (p.Gly656Cys)
c.1936G>T (p.Gly646Cys)
c.1810G>T (p.Gly604Cys)
16g.27363586G>ACA395304620IL4Rc.2234G>A (p.Gly745Asp)
c.2189G>A (p.Gly730Asp)
c.230-517G>A (n.230-517G>A)
c.*2277G>A (n.*2277G>A)
c.1754G>A (p.Gly585Asp)
c.1343G>A (p.Gly448Asp)
c.1283G>A (p.Gly428Asp)
c.1967G>A (p.Gly656Asp)
c.1937G>A (p.Gly646Asp)
c.1811G>A (p.Gly604Asp)
16g.27363586G>CCA395304622IL4Rc.2234G>C (p.Gly745Ala)
c.2189G>C (p.Gly730Ala)
c.230-517G>C (n.230-517G>C)
c.*2277G>C (n.*2277G>C)
c.1754G>C (p.Gly585Ala)
c.1343G>C (p.Gly448Ala)
c.1283G>C (p.Gly428Ala)
c.1967G>C (p.Gly656Ala)
c.1937G>C (p.Gly646Ala)
c.1811G>C (p.Gly604Ala)
16g.27363586G>TCA395304624IL4Rc.2234G>T (p.Gly745Val)
c.2189G>T (p.Gly730Val)
c.230-517G>T (n.230-517G>T)
c.*2277G>T (n.*2277G>T)
c.1754G>T (p.Gly585Val)
c.1343G>T (p.Gly448Val)
c.1283G>T (p.Gly428Val)
c.1967G>T (p.Gly656Val)
c.1937G>T (p.Gly646Val)
c.1811G>T (p.Gly604Val)
16g.27363587C>ACA494470672IL4Rc.2235C>A (p.Gly745=)
c.2190C>A (p.Gly730=)
c.230-516C>A (n.230-516C>A)
c.*2278C>A (n.*2278C>A)
c.1755C>A (p.Gly585=)
c.1344C>A (p.Gly448=)
c.1284C>A (p.Gly428=)
c.1968C>A (p.Gly656=)
c.1938C>A (p.Gly646=)
c.1812C>A (p.Gly604=)
16g.27363587C>GCA494470673IL4Rc.2235C>G (p.Gly745=)
c.2190C>G (p.Gly730=)
c.230-516C>G (n.230-516C>G)
c.*2278C>G (n.*2278C>G)
c.1755C>G (p.Gly585=)
c.1344C>G (p.Gly448=)
c.1284C>G (p.Gly428=)
c.1968C>G (p.Gly656=)
c.1938C>G (p.Gly646=)
c.1812C>G (p.Gly604=)
16g.27363587C>TCA494470674IL4Rc.2235C>T (p.Gly745=)
c.2190C>T (p.Gly730=)
c.230-516C>T (n.230-516C>T)
c.*2278C>T (n.*2278C>T)
c.1755C>T (p.Gly585=)
c.1344C>T (p.Gly448=)
c.1284C>T (p.Gly428=)
c.1968C>T (p.Gly656=)
c.1938C>T (p.Gly646=)
c.1812C>T (p.Gly604=)
16g.27363588T>ACA395304631IL4Rc.2236T>A (p.Cys746Ser)
c.2191T>A (p.Cys731Ser)
c.230-515T>A (n.230-515T>A)
c.*2279T>A (n.*2279T>A)
c.1756T>A (p.Cys586Ser)
c.1345T>A (p.Cys449Ser)
c.1285T>A (p.Cys429Ser)
c.1969T>A (p.Cys657Ser)
c.1939T>A (p.Cys647Ser)
c.1813T>A (p.Cys605Ser)
16g.27363588T>CCA395304627IL4Rc.2236T>C (p.Cys746Arg)
c.2191T>C (p.Cys731Arg)
c.230-515T>C (n.230-515T>C)
c.*2279T>C (n.*2279T>C)
c.1756T>C (p.Cys586Arg)
c.1345T>C (p.Cys449Arg)
c.1285T>C (p.Cys429Arg)
c.1969T>C (p.Cys657Arg)
c.1939T>C (p.Cys647Arg)
c.1813T>C (p.Cys605Arg)
16g.27363588T>GCA395304629IL4Rc.2236T>G (p.Cys746Gly)
c.2191T>G (p.Cys731Gly)
c.230-515T>G (n.230-515T>G)
c.*2279T>G (n.*2279T>G)
c.1756T>G (p.Cys586Gly)
c.1345T>G (p.Cys449Gly)
c.1285T>G (p.Cys429Gly)
c.1969T>G (p.Cys657Gly)
c.1939T>G (p.Cys647Gly)
c.1813T>G (p.Cys605Gly)
16g.27363588_27363599delCA2632431254IL4Rc.2236_2247del (p.Cys746_Gly749del)
c.2191_2202del (p.Cys731_Gly734del)
c.230-515_230-504del (n.230-515_230-504del)
c.*2279_*2290del (n.*2279_*2290del)
c.1756_1767del (p.Cys586_Gly589del)
c.1345_1356del (p.Cys449_Gly452del)
c.1285_1296del (p.Cys429_Gly432del)
c.1969_1980del (p.Cys657_Gly660del)
c.1939_1950del (p.Cys647_Gly650del)
c.1813_1824del (p.Cys605_Gly608del)
 gnomAD v4
16g.27363589G>ACA395304634IL4Rc.2237G>A (p.Cys746Tyr)
c.2192G>A (p.Cys731Tyr)
c.230-514G>A (n.230-514G>A)
c.*2280G>A (n.*2280G>A)
c.1757G>A (p.Cys586Tyr)
c.1346G>A (p.Cys449Tyr)
c.1286G>A (p.Cys429Tyr)
c.1970G>A (p.Cys657Tyr)
c.1940G>A (p.Cys647Tyr)
c.1814G>A (p.Cys605Tyr)
 dbSNP gnomAD v2 gnomAD v4
16g.27363589G>CCA395304637IL4Rc.2237G>C (p.Cys746Ser)
c.2192G>C (p.Cys731Ser)
c.230-514G>C (n.230-514G>C)
c.*2280G>C (n.*2280G>C)
c.1757G>C (p.Cys586Ser)
c.1346G>C (p.Cys449Ser)
c.1286G>C (p.Cys429Ser)
c.1970G>C (p.Cys657Ser)
c.1940G>C (p.Cys647Ser)
c.1814G>C (p.Cys605Ser)
16g.27363589G=CA2215170447IL4Rc.2237G= (p.Cys746=)
c.2192G= (p.Cys731=)
c.230-514G= (n.230-514G=)
c.*2280G= (n.*2280G=)
c.1757G= (p.Cys586=)
c.1346G= (p.Cys449=)
c.1286G= (p.Cys429=)
c.1970G= (p.Cys657=)
c.1940G= (p.Cys647=)
c.1814G= (p.Cys605=)
16g.27363589G>TCA395304640IL4Rc.2237G>T (p.Cys746Phe)
c.2192G>T (p.Cys731Phe)
c.230-514G>T (n.230-514G>T)
c.*2280G>T (n.*2280G>T)
c.1757G>T (p.Cys586Phe)
c.1346G>T (p.Cys449Phe)
c.1286G>T (p.Cys429Phe)
c.1970G>T (p.Cys657Phe)
c.1940G>T (p.Cys647Phe)
c.1814G>T (p.Cys605Phe)
16g.27363590C>ACA395304642IL4Rc.2238C>A (p.Cys746Ter)
c.2193C>A (p.Cys731Ter)
c.230-513C>A (n.230-513C>A)
c.*2281C>A (n.*2281C>A)
c.1758C>A (p.Cys586Ter)
c.1347C>A (p.Cys449Ter)
c.1287C>A (p.Cys429Ter)
c.1971C>A (p.Cys657Ter)
c.1941C>A (p.Cys647Ter)
c.1815C>A (p.Cys605Ter)
16g.27363590C=CA2215170450IL4Rc.2238C= (p.Cys746=)
c.2193C= (p.Cys731=)
c.230-513C= (n.230-513C=)
c.*2281C= (n.*2281C=)
c.1758C= (p.Cys586=)
c.1347C= (p.Cys449=)
c.1287C= (p.Cys429=)
c.1971C= (p.Cys657=)
c.1941C= (p.Cys647=)
c.1815C= (p.Cys605=)
16g.27363590C>GCA279687786IL4Rc.2238C>G (p.Cys746Trp)
c.2193C>G (p.Cys731Trp)
c.230-513C>G (n.230-513C>G)
c.*2281C>G (n.*2281C>G)
c.1758C>G (p.Cys586Trp)
c.1347C>G (p.Cys449Trp)
c.1287C>G (p.Cys429Trp)
c.1971C>G (p.Cys657Trp)
c.1941C>G (p.Cys647Trp)
c.1815C>G (p.Cys605Trp)
 dbSNP
16g.27363590C>TCA494470681IL4Rc.2238C>T (p.Cys746=)
c.2193C>T (p.Cys731=)
c.230-513C>T (n.230-513C>T)
c.*2281C>T (n.*2281C>T)
c.1758C>T (p.Cys586=)
c.1347C>T (p.Cys449=)
c.1287C>T (p.Cys429=)
c.1971C>T (p.Cys657=)
c.1941C>T (p.Cys647=)
c.1815C>T (p.Cys605=)
16g.27363591T>ACA395304647IL4Rc.2239T>A (p.Cys747Ser)
c.2194T>A (p.Cys732Ser)
c.230-512T>A (n.230-512T>A)
c.*2282T>A (n.*2282T>A)
c.1759T>A (p.Cys587Ser)
c.1348T>A (p.Cys450Ser)
c.1288T>A (p.Cys430Ser)
c.1972T>A (p.Cys658Ser)
c.1942T>A (p.Cys648Ser)
c.1816T>A (p.Cys606Ser)
16g.27363591T>CCA395304649IL4Rc.2239T>C (p.Cys747Arg)
c.2194T>C (p.Cys732Arg)
c.230-512T>C (n.230-512T>C)
c.*2282T>C (n.*2282T>C)
c.1759T>C (p.Cys587Arg)
c.1348T>C (p.Cys450Arg)
c.1288T>C (p.Cys430Arg)
c.1972T>C (p.Cys658Arg)
c.1942T>C (p.Cys648Arg)
c.1816T>C (p.Cys606Arg)
16g.27363591T>GCA395304651IL4Rc.2239T>G (p.Cys747Gly)
c.2194T>G (p.Cys732Gly)
c.230-512T>G (n.230-512T>G)
c.*2282T>G (n.*2282T>G)
c.1759T>G (p.Cys587Gly)
c.1348T>G (p.Cys450Gly)
c.1288T>G (p.Cys430Gly)
c.1972T>G (p.Cys658Gly)
c.1942T>G (p.Cys648Gly)
c.1816T>G (p.Cys606Gly)
16g.27363592G>ACA395304654IL4Rc.2240G>A (p.Cys747Tyr)
c.2195G>A (p.Cys732Tyr)
c.230-511G>A (n.230-511G>A)
c.*2283G>A (n.*2283G>A)
c.1760G>A (p.Cys587Tyr)
c.1349G>A (p.Cys450Tyr)
c.1289G>A (p.Cys430Tyr)
c.1973G>A (p.Cys658Tyr)
c.1943G>A (p.Cys648Tyr)
c.1817G>A (p.Cys606Tyr)
16g.27363592G>CCA395304656IL4Rc.2240G>C (p.Cys747Ser)
c.2195G>C (p.Cys732Ser)
c.230-511G>C (n.230-511G>C)
c.*2283G>C (n.*2283G>C)
c.1760G>C (p.Cys587Ser)
c.1349G>C (p.Cys450Ser)
c.1289G>C (p.Cys430Ser)
c.1973G>C (p.Cys658Ser)
c.1943G>C (p.Cys648Ser)
c.1817G>C (p.Cys606Ser)
16g.27363592G>TCA395304658IL4Rc.2240G>T (p.Cys747Phe)
c.2195G>T (p.Cys732Phe)
c.230-511G>T (n.230-511G>T)
c.*2283G>T (n.*2283G>T)
c.1760G>T (p.Cys587Phe)
c.1349G>T (p.Cys450Phe)
c.1289G>T (p.Cys430Phe)
c.1973G>T (p.Cys658Phe)
c.1943G>T (p.Cys648Phe)
c.1817G>T (p.Cys606Phe)
16g.27363593C>ACA279687791IL4Rc.2241C>A (p.Cys747Ter)
c.2196C>A (p.Cys732Ter)
c.230-510C>A (n.230-510C>A)
c.*2284C>A (n.*2284C>A)
c.1761C>A (p.Cys587Ter)
c.1350C>A (p.Cys450Ter)
c.1290C>A (p.Cys430Ter)
c.1974C>A (p.Cys658Ter)
c.1944C>A (p.Cys648Ter)
c.1818C>A (p.Cys606Ter)
 dbSNP
16g.27363593C=CA2215170456IL4Rc.2241C= (p.Cys747=)
c.2196C= (p.Cys732=)
c.230-510C= (n.230-510C=)
c.*2284C= (n.*2284C=)
c.1761C= (p.Cys587=)
c.1350C= (p.Cys450=)
c.1290C= (p.Cys430=)
c.1974C= (p.Cys658=)
c.1944C= (p.Cys648=)
c.1818C= (p.Cys606=)
16g.27363593C>GCA395304663IL4Rc.2241C>G (p.Cys747Trp)
c.2196C>G (p.Cys732Trp)
c.230-510C>G (n.230-510C>G)
c.*2284C>G (n.*2284C>G)
c.1761C>G (p.Cys587Trp)
c.1350C>G (p.Cys450Trp)
c.1290C>G (p.Cys430Trp)
c.1974C>G (p.Cys658Trp)
c.1944C>G (p.Cys648Trp)
c.1818C>G (p.Cys606Trp)
16g.27363593C>TCA494470685IL4Rc.2241C>T (p.Cys747=)
c.2196C>T (p.Cys732=)
c.230-510C>T (n.230-510C>T)
c.*2284C>T (n.*2284C>T)
c.1761C>T (p.Cys587=)
c.1350C>T (p.Cys450=)
c.1290C>T (p.Cys430=)
c.1974C>T (p.Cys658=)
c.1944C>T (p.Cys648=)
c.1818C>T (p.Cys606=)
16g.27363594T>ACA395304669IL4Rc.2242T>A (p.Cys748Ser)
c.2197T>A (p.Cys733Ser)
c.230-509T>A (n.230-509T>A)
c.*2285T>A (n.*2285T>A)
c.1762T>A (p.Cys588Ser)
c.1351T>A (p.Cys451Ser)
c.1291T>A (p.Cys431Ser)
c.1975T>A (p.Cys659Ser)
c.1945T>A (p.Cys649Ser)
c.1819T>A (p.Cys607Ser)
16g.27363594T>CCA395304672IL4Rc.2242T>C (p.Cys748Arg)
c.2197T>C (p.Cys733Arg)
c.230-509T>C (n.230-509T>C)
c.*2285T>C (n.*2285T>C)
c.1762T>C (p.Cys588Arg)
c.1351T>C (p.Cys451Arg)
c.1291T>C (p.Cys431Arg)
c.1975T>C (p.Cys659Arg)
c.1945T>C (p.Cys649Arg)
c.1819T>C (p.Cys607Arg)
16g.27363594T>GCA395304667IL4Rc.2242T>G (p.Cys748Gly)
c.2197T>G (p.Cys733Gly)
c.230-509T>G (n.230-509T>G)
c.*2285T>G (n.*2285T>G)
c.1762T>G (p.Cys588Gly)
c.1351T>G (p.Cys451Gly)
c.1291T>G (p.Cys431Gly)
c.1975T>G (p.Cys659Gly)
c.1945T>G (p.Cys649Gly)
c.1819T>G (p.Cys607Gly)
16g.27363595G>ACA395304676IL4Rc.2243G>A (p.Cys748Tyr)
c.2198G>A (p.Cys733Tyr)
c.230-508G>A (n.230-508G>A)
c.*2286G>A (n.*2286G>A)
c.1763G>A (p.Cys588Tyr)
c.1352G>A (p.Cys451Tyr)
c.1292G>A (p.Cys431Tyr)
c.1976G>A (p.Cys659Tyr)
c.1946G>A (p.Cys649Tyr)
c.1820G>A (p.Cys607Tyr)
 gnomAD v4
16g.27363595G>CCA395304678IL4Rc.2243G>C (p.Cys748Ser)
c.2198G>C (p.Cys733Ser)
c.230-508G>C (n.230-508G>C)
c.*2286G>C (n.*2286G>C)
c.1763G>C (p.Cys588Ser)
c.1352G>C (p.Cys451Ser)
c.1292G>C (p.Cys431Ser)
c.1976G>C (p.Cys659Ser)
c.1946G>C (p.Cys649Ser)
c.1820G>C (p.Cys607Ser)
16g.27363595G>TCA395304680IL4Rc.2243G>T (p.Cys748Phe)
c.2198G>T (p.Cys733Phe)
c.230-508G>T (n.230-508G>T)
c.*2286G>T (n.*2286G>T)
c.1763G>T (p.Cys588Phe)
c.1352G>T (p.Cys451Phe)
c.1292G>T (p.Cys431Phe)
c.1976G>T (p.Cys659Phe)
c.1946G>T (p.Cys649Phe)
c.1820G>T (p.Cys607Phe)
16g.27363596T>ACA395304683IL4Rc.2244T>A (p.Cys748Ter)
c.2199T>A (p.Cys733Ter)
c.230-507T>A (n.230-507T>A)
c.*2287T>A (n.*2287T>A)
c.1764T>A (p.Cys588Ter)
c.1353T>A (p.Cys451Ter)
c.1293T>A (p.Cys431Ter)
c.1977T>A (p.Cys659Ter)
c.1947T>A (p.Cys649Ter)
c.1821T>A (p.Cys607Ter)
16g.27363596T>CCA494470686IL4Rc.2244T>C (p.Cys748=)
c.2199T>C (p.Cys733=)
c.230-507T>C (n.230-507T>C)
c.*2287T>C (n.*2287T>C)
c.1764T>C (p.Cys588=)
c.1353T>C (p.Cys451=)
c.1293T>C (p.Cys431=)
c.1977T>C (p.Cys659=)
c.1947T>C (p.Cys649=)
c.1821T>C (p.Cys607=)
16g.27363596T>GCA395304686IL4Rc.2244T>G (p.Cys748Trp)
c.2199T>G (p.Cys733Trp)
c.230-507T>G (n.230-507T>G)
c.*2287T>G (n.*2287T>G)
c.1764T>G (p.Cys588Trp)
c.1353T>G (p.Cys451Trp)
c.1293T>G (p.Cys431Trp)
c.1977T>G (p.Cys659Trp)
c.1947T>G (p.Cys649Trp)
c.1821T>G (p.Cys607Trp)
16g.27363597G>ACA395304694IL4Rc.2245G>A (p.Gly749Arg)
c.2200G>A (p.Gly734Arg)
c.230-506G>A (n.230-506G>A)
c.*2288G>A (n.*2288G>A)
c.1765G>A (p.Gly589Arg)
c.1354G>A (p.Gly452Arg)
c.1294G>A (p.Gly432Arg)
c.1978G>A (p.Gly660Arg)
c.1948G>A (p.Gly650Arg)
c.1822G>A (p.Gly608Arg)
 dbSNP gnomAD v4
16g.27363597G>CCA395304692IL4Rc.2245G>C (p.Gly749Arg)
c.2200G>C (p.Gly734Arg)
c.230-506G>C (n.230-506G>C)
c.*2288G>C (n.*2288G>C)
c.1765G>C (p.Gly589Arg)
c.1354G>C (p.Gly452Arg)
c.1294G>C (p.Gly432Arg)
c.1978G>C (p.Gly660Arg)
c.1948G>C (p.Gly650Arg)
c.1822G>C (p.Gly608Arg)
16g.27363597G>TCA395304689IL4Rc.2245G>T (p.Gly749Ter)
c.2200G>T (p.Gly734Ter)
c.230-506G>T (n.230-506G>T)
c.*2288G>T (n.*2288G>T)
c.1765G>T (p.Gly589Ter)
c.1354G>T (p.Gly452Ter)
c.1294G>T (p.Gly432Ter)
c.1978G>T (p.Gly660Ter)
c.1948G>T (p.Gly650Ter)
c.1822G>T (p.Gly608Ter)
16g.27363598G>ACA395304697IL4Rc.2246G>A (p.Gly749Glu)
c.2201G>A (p.Gly734Glu)
c.230-505G>A (n.230-505G>A)
c.*2289G>A (n.*2289G>A)
c.1766G>A (p.Gly589Glu)
c.1355G>A (p.Gly452Glu)
c.1295G>A (p.Gly432Glu)
c.1979G>A (p.Gly660Glu)
c.1949G>A (p.Gly650Glu)
c.1823G>A (p.Gly608Glu)
 gnomAD v4
16g.27363598G>CCA395304699IL4Rc.2246G>C (p.Gly749Ala)
c.2201G>C (p.Gly734Ala)
c.230-505G>C (n.230-505G>C)
c.*2289G>C (n.*2289G>C)
c.1766G>C (p.Gly589Ala)
c.1355G>C (p.Gly452Ala)
c.1295G>C (p.Gly432Ala)
c.1979G>C (p.Gly660Ala)
c.1949G>C (p.Gly650Ala)
c.1823G>C (p.Gly608Ala)
16g.27363598G>TCA395304702IL4Rc.2246G>T (p.Gly749Val)
c.2201G>T (p.Gly734Val)
c.230-505G>T (n.230-505G>T)
c.*2289G>T (n.*2289G>T)
c.1766G>T (p.Gly589Val)
c.1355G>T (p.Gly452Val)
c.1295G>T (p.Gly432Val)
c.1979G>T (p.Gly660Val)
c.1949G>T (p.Gly650Val)
c.1823G>T (p.Gly608Val)
16g.27363599A>CCA494470696IL4Rc.2247A>C (p.Gly749=)
c.2202A>C (p.Gly734=)
c.230-504A>C (n.230-504A>C)
c.*2290A>C (n.*2290A>C)
c.1767A>C (p.Gly589=)
c.1356A>C (p.Gly452=)
c.1296A>C (p.Gly432=)
c.1980A>C (p.Gly660=)
c.1950A>C (p.Gly650=)
c.1824A>C (p.Gly608=)
16g.27363599A>GCA494470698IL4Rc.2247A>G (p.Gly749=)
c.2202A>G (p.Gly734=)
c.230-504A>G (n.230-504A>G)
c.*2290A>G (n.*2290A>G)
c.1767A>G (p.Gly589=)
c.1356A>G (p.Gly452=)
c.1296A>G (p.Gly432=)
c.1980A>G (p.Gly660=)
c.1950A>G (p.Gly650=)
c.1824A>G (p.Gly608=)
16g.27363599A>TCA494470699IL4Rc.2247A>T (p.Gly749=)
c.2202A>T (p.Gly734=)
c.230-504A>T (n.230-504A>T)
c.*2290A>T (n.*2290A>T)
c.1767A>T (p.Gly589=)
c.1356A>T (p.Gly452=)
c.1296A>T (p.Gly432=)
c.1980A>T (p.Gly660=)
c.1950A>T (p.Gly650=)
c.1824A>T (p.Gly608=)
 gnomAD v4
16g.27363600G>ACA7974712IL4Rc.2248G>A (p.Asp750Asn)
c.2203G>A (p.Asp735Asn)
c.230-503G>A (n.230-503G>A)
c.*2291G>A (n.*2291G>A)
c.1768G>A (p.Asp590Asn)
c.1357G>A (p.Asp453Asn)
c.1297G>A (p.Asp433Asn)
c.1981G>A (p.Asp661Asn)
c.1951G>A (p.Asp651Asn)
c.1825G>A (p.Asp609Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363600G>CCA395304706IL4Rc.2248G>C (p.Asp750His)
c.2203G>C (p.Asp735His)
c.230-503G>C (n.230-503G>C)
c.*2291G>C (n.*2291G>C)
c.1768G>C (p.Asp590His)
c.1357G>C (p.Asp453His)
c.1297G>C (p.Asp433His)
c.1981G>C (p.Asp661His)
c.1951G>C (p.Asp651His)
c.1825G>C (p.Asp609His)
16g.27363600G=CA2215170463IL4Rc.2248G= (p.Asp750=)
c.2203G= (p.Asp735=)
c.230-503G= (n.230-503G=)
c.*2291G= (n.*2291G=)
c.1768G= (p.Asp590=)
c.1357G= (p.Asp453=)
c.1297G= (p.Asp433=)
c.1981G= (p.Asp661=)
c.1951G= (p.Asp651=)
c.1825G= (p.Asp609=)
16g.27363600G>TCA395304707IL4Rc.2248G>T (p.Asp750Tyr)
c.2203G>T (p.Asp735Tyr)
c.230-503G>T (n.230-503G>T)
c.*2291G>T (n.*2291G>T)
c.1768G>T (p.Asp590Tyr)
c.1357G>T (p.Asp453Tyr)
c.1297G>T (p.Asp433Tyr)
c.1981G>T (p.Asp661Tyr)
c.1951G>T (p.Asp651Tyr)
c.1825G>T (p.Asp609Tyr)
16g.27363601A=CA2215170466IL4Rc.2249A= (p.Asp750=)
c.2204A= (p.Asp735=)
c.230-502A= (n.230-502A=)
c.*2292A= (n.*2292A=)
c.1769A= (p.Asp590=)
c.1358A= (p.Asp453=)
c.1298A= (p.Asp433=)
c.1982A= (p.Asp661=)
c.1952A= (p.Asp651=)
c.1826A= (p.Asp609=)
16g.27363601A>CCA395304713IL4Rc.2249A>C (p.Asp750Ala)
c.2204A>C (p.Asp735Ala)
c.230-502A>C (n.230-502A>C)
c.*2292A>C (n.*2292A>C)
c.1769A>C (p.Asp590Ala)
c.1358A>C (p.Asp453Ala)
c.1298A>C (p.Asp433Ala)
c.1982A>C (p.Asp661Ala)
c.1952A>C (p.Asp651Ala)
c.1826A>C (p.Asp609Ala)
 gnomAD v4
16g.27363601A>GCA7974713IL4Rc.2249A>G (p.Asp750Gly)
c.2204A>G (p.Asp735Gly)
c.230-502A>G (n.230-502A>G)
c.*2292A>G (n.*2292A>G)
c.1769A>G (p.Asp590Gly)
c.1358A>G (p.Asp453Gly)
c.1298A>G (p.Asp433Gly)
c.1982A>G (p.Asp661Gly)
c.1952A>G (p.Asp651Gly)
c.1826A>G (p.Asp609Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363601A>TCA395304711IL4Rc.2249A>T (p.Asp750Val)
c.2204A>T (p.Asp735Val)
c.230-502A>T (n.230-502A>T)
c.*2292A>T (n.*2292A>T)
c.1769A>T (p.Asp590Val)
c.1358A>T (p.Asp453Val)
c.1298A>T (p.Asp433Val)
c.1982A>T (p.Asp661Val)
c.1952A>T (p.Asp651Val)
c.1826A>T (p.Asp609Val)
16g.27363602C>ACA395304716IL4Rc.2250C>A (p.Asp750Glu)
c.2205C>A (p.Asp735Glu)
c.230-501C>A (n.230-501C>A)
c.*2293C>A (n.*2293C>A)
c.1770C>A (p.Asp590Glu)
c.1359C>A (p.Asp453Glu)
c.1299C>A (p.Asp433Glu)
c.1983C>A (p.Asp661Glu)
c.1953C>A (p.Asp651Glu)
c.1827C>A (p.Asp609Glu)
16g.27363602C=CA2215170472IL4Rc.2250C= (p.Asp750=)
c.2205C= (p.Asp735=)
c.230-501C= (n.230-501C=)
c.*2293C= (n.*2293C=)
c.1770C= (p.Asp590=)
c.1359C= (p.Asp453=)
c.1299C= (p.Asp433=)
c.1983C= (p.Asp661=)
c.1953C= (p.Asp651=)
c.1827C= (p.Asp609=)
16g.27363602C>GCA395304718IL4Rc.2250C>G (p.Asp750Glu)
c.2205C>G (p.Asp735Glu)
c.230-501C>G (n.230-501C>G)
c.*2293C>G (n.*2293C>G)
c.1770C>G (p.Asp590Glu)
c.1359C>G (p.Asp453Glu)
c.1299C>G (p.Asp433Glu)
c.1983C>G (p.Asp661Glu)
c.1953C>G (p.Asp651Glu)
c.1827C>G (p.Asp609Glu)
 gnomAD v4
16g.27363602C>TCA494470706IL4Rc.2250C>T (p.Asp750=)
c.2205C>T (p.Asp735=)
c.230-501C>T (n.230-501C>T)
c.*2293C>T (n.*2293C>T)
c.1770C>T (p.Asp590=)
c.1359C>T (p.Asp453=)
c.1299C>T (p.Asp433=)
c.1983C>T (p.Asp661=)
c.1953C>T (p.Asp651=)
c.1827C>T (p.Asp609=)
 dbSNP gnomAD v2 gnomAD v4
16g.27363603A>CCA494470708IL4Rc.2251A>C (p.Arg751=)
c.2206A>C (p.Arg736=)
c.230-500A>C (n.230-500A>C)
c.*2294A>C (n.*2294A>C)
c.1771A>C (p.Arg591=)
c.1360A>C (p.Arg454=)
c.1300A>C (p.Arg434=)
c.1984A>C (p.Arg662=)
c.1954A>C (p.Arg652=)
c.1828A>C (p.Arg610=)
16g.27363603A>GCA395304720IL4Rc.2251A>G (p.Arg751Gly)
c.2206A>G (p.Arg736Gly)
c.230-500A>G (n.230-500A>G)
c.*2294A>G (n.*2294A>G)
c.1771A>G (p.Arg591Gly)
c.1360A>G (p.Arg454Gly)
c.1300A>G (p.Arg434Gly)
c.1984A>G (p.Arg662Gly)
c.1954A>G (p.Arg652Gly)
c.1828A>G (p.Arg610Gly)
16g.27363603A>TCA395304721IL4Rc.2251A>T (p.Arg751Trp)
c.2206A>T (p.Arg736Trp)
c.230-500A>T (n.230-500A>T)
c.*2294A>T (n.*2294A>T)
c.1771A>T (p.Arg591Trp)
c.1360A>T (p.Arg454Trp)
c.1300A>T (p.Arg434Trp)
c.1984A>T (p.Arg662Trp)
c.1954A>T (p.Arg652Trp)
c.1828A>T (p.Arg610Trp)
16g.27363604G>ACA395304725IL4Rc.2252G>A (p.Arg751Lys)
c.2207G>A (p.Arg736Lys)
c.230-499G>A (n.230-499G>A)
c.*2295G>A (n.*2295G>A)
c.1772G>A (p.Arg591Lys)
c.1361G>A (p.Arg454Lys)
c.1301G>A (p.Arg434Lys)
c.1985G>A (p.Arg662Lys)
c.1955G>A (p.Arg652Lys)
c.1829G>A (p.Arg610Lys)
 dbSNP
16g.27363604G>CCA395304727IL4Rc.2252G>C (p.Arg751Thr)
c.2207G>C (p.Arg736Thr)
c.230-499G>C (n.230-499G>C)
c.*2295G>C (n.*2295G>C)
c.1772G>C (p.Arg591Thr)
c.1361G>C (p.Arg454Thr)
c.1301G>C (p.Arg434Thr)
c.1985G>C (p.Arg662Thr)
c.1955G>C (p.Arg652Thr)
c.1829G>C (p.Arg610Thr)
16g.27363604G=CA2215170478IL4Rc.2252G= (p.Arg751=)
c.2207G= (p.Arg736=)
c.230-499G= (n.230-499G=)
c.*2295G= (n.*2295G=)
c.1772G= (p.Arg591=)
c.1361G= (p.Arg454=)
c.1301G= (p.Arg434=)
c.1985G= (p.Arg662=)
c.1955G= (p.Arg652=)
c.1829G= (p.Arg610=)
16g.27363604G>TCA395304729IL4Rc.2252G>T (p.Arg751Met)
c.2207G>T (p.Arg736Met)
c.230-499G>T (n.230-499G>T)
c.*2295G>T (n.*2295G>T)
c.1772G>T (p.Arg591Met)
c.1361G>T (p.Arg454Met)
c.1301G>T (p.Arg434Met)
c.1985G>T (p.Arg662Met)
c.1955G>T (p.Arg652Met)
c.1829G>T (p.Arg610Met)
16g.27363605G>ACA494470713IL4Rc.2253G>A (p.Arg751=)
c.2208G>A (p.Arg736=)
c.230-498G>A (n.230-498G>A)
c.*2296G>A (n.*2296G>A)
c.1773G>A (p.Arg591=)
c.1362G>A (p.Arg454=)
c.1302G>A (p.Arg434=)
c.1986G>A (p.Arg662=)
c.1956G>A (p.Arg652=)
c.1830G>A (p.Arg610=)
 dbSNP gnomAD v2 gnomAD v4
16g.27363605G>CCA395304732IL4Rc.2253G>C (p.Arg751Ser)
c.2208G>C (p.Arg736Ser)
c.230-498G>C (n.230-498G>C)
c.*2296G>C (n.*2296G>C)
c.1773G>C (p.Arg591Ser)
c.1362G>C (p.Arg454Ser)
c.1302G>C (p.Arg434Ser)
c.1986G>C (p.Arg662Ser)
c.1956G>C (p.Arg652Ser)
c.1830G>C (p.Arg610Ser)
16g.27363605G=CA2215170487IL4Rc.2253G= (p.Arg751=)
c.2208G= (p.Arg736=)
c.230-498G= (n.230-498G=)
c.*2296G= (n.*2296G=)
c.1773G= (p.Arg591=)
c.1362G= (p.Arg454=)
c.1302G= (p.Arg434=)
c.1986G= (p.Arg662=)
c.1956G= (p.Arg652=)
c.1830G= (p.Arg610=)
16g.27363605G>TCA395304734IL4Rc.2253G>T (p.Arg751Ser)
c.2208G>T (p.Arg736Ser)
c.230-498G>T (n.230-498G>T)
c.*2296G>T (n.*2296G>T)
c.1773G>T (p.Arg591Ser)
c.1362G>T (p.Arg454Ser)
c.1302G>T (p.Arg434Ser)
c.1986G>T (p.Arg662Ser)
c.1956G>T (p.Arg652Ser)
c.1830G>T (p.Arg610Ser)
16g.27363606T>ACA395304738IL4Rc.2254T>A (p.Ser752Thr)
c.2209T>A (p.Ser737Thr)
c.230-497T>A (n.230-497T>A)
c.*2297T>A (n.*2297T>A)
c.1774T>A (p.Ser592Thr)
c.1363T>A (p.Ser455Thr)
c.1303T>A (p.Ser435Thr)
c.1987T>A (p.Ser663Thr)
c.1957T>A (p.Ser653Thr)
c.1831T>A (p.Ser611Thr)
16g.27363606T>CCA395304740IL4Rc.2254T>C (p.Ser752Pro)
c.2209T>C (p.Ser737Pro)
c.230-497T>C (n.230-497T>C)
c.*2297T>C (n.*2297T>C)
c.1774T>C (p.Ser592Pro)
c.1363T>C (p.Ser455Pro)
c.1303T>C (p.Ser435Pro)
c.1987T>C (p.Ser663Pro)
c.1957T>C (p.Ser653Pro)
c.1831T>C (p.Ser611Pro)
16g.27363606T>GCA7974714IL4Rc.2254T>G (p.Ser752Ala)
c.2209T>G (p.Ser737Ala)
c.230-497T>G (n.230-497T>G)
c.*2297T>G (n.*2297T>G)
c.1774T>G (p.Ser592Ala)
c.1363T>G (p.Ser455Ala)
c.1303T>G (p.Ser435Ala)
c.1987T>G (p.Ser663Ala)
c.1957T>G (p.Ser653Ala)
c.1831T>G (p.Ser611Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27363606T=CA2215170493IL4Rc.2254T= (p.Ser752=)
c.2209T= (p.Ser737=)
c.230-497T= (n.230-497T=)
c.*2297T= (n.*2297T=)
c.1774T= (p.Ser592=)
c.1363T= (p.Ser455=)
c.1303T= (p.Ser435=)
c.1987T= (p.Ser663=)
c.1957T= (p.Ser653=)
c.1831T= (p.Ser611=)
16g.27363607C>ACA395304744IL4Rc.2255C>A (p.Ser752Tyr)
c.2210C>A (p.Ser737Tyr)
c.230-496C>A (n.230-496C>A)
c.*2298C>A (n.*2298C>A)
c.1775C>A (p.Ser592Tyr)
c.1364C>A (p.Ser455Tyr)
c.1304C>A (p.Ser435Tyr)
c.1988C>A (p.Ser663Tyr)
c.1958C>A (p.Ser653Tyr)
c.1832C>A (p.Ser611Tyr)
 dbSNP gnomAD v2
16g.27363607C=CA2215170499IL4Rc.2255C= (p.Ser752=)
c.2210C= (p.Ser737=)
c.230-496C= (n.230-496C=)
c.*2298C= (n.*2298C=)
c.1775C= (p.Ser592=)
c.1364C= (p.Ser455=)
c.1304C= (p.Ser435=)
c.1988C= (p.Ser663=)
c.1958C= (p.Ser653=)
c.1832C= (p.Ser611=)
16g.27363607C>GCA7974715IL4Rc.2255C>G (p.Ser752Cys)
c.2210C>G (p.Ser737Cys)
c.230-496C>G (n.230-496C>G)
c.*2298C>G (n.*2298C>G)
c.1775C>G (p.Ser592Cys)
c.1364C>G (p.Ser455Cys)
c.1304C>G (p.Ser435Cys)
c.1988C>G (p.Ser663Cys)
c.1958C>G (p.Ser653Cys)
c.1832C>G (p.Ser611Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27363607C>TCA395304747IL4Rc.2255C>T (p.Ser752Phe)
c.2210C>T (p.Ser737Phe)
c.230-496C>T (n.230-496C>T)
c.*2298C>T (n.*2298C>T)
c.1775C>T (p.Ser592Phe)
c.1364C>T (p.Ser455Phe)
c.1304C>T (p.Ser435Phe)
c.1988C>T (p.Ser663Phe)
c.1958C>T (p.Ser653Phe)
c.1832C>T (p.Ser611Phe)
 gnomAD v4 COSMIC

Number of alleles fetched