Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.27362545G>ACA7974509IL4Rc.1193G>A (p.Gly398Glu)
c.1148G>A (p.Gly383Glu)
c.230-1558G>A (n.230-1558G>A)
c.*1236G>A (n.*1236G>A)
c.713G>A (p.Gly238Glu)
c.302G>A (p.Gly101Glu)
c.242G>A (p.Gly81Glu)
c.926G>A (p.Gly309Glu)
c.896G>A (p.Gly299Glu)
c.770G>A (p.Gly257Glu)
c.*228G>A (n.*228G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362545G>CCA395297938IL4Rc.1193G>C (p.Gly398Ala)
c.1148G>C (p.Gly383Ala)
c.230-1558G>C (n.230-1558G>C)
c.*1236G>C (n.*1236G>C)
c.713G>C (p.Gly238Ala)
c.302G>C (p.Gly101Ala)
c.242G>C (p.Gly81Ala)
c.926G>C (p.Gly309Ala)
c.896G>C (p.Gly299Ala)
c.770G>C (p.Gly257Ala)
c.*228G>C (n.*228G>C)
 COSMIC
16g.27362545G=CA2215169461IL4Rc.1193G= (p.Gly398=)
c.1148G= (p.Gly383=)
c.230-1558G= (n.230-1558G=)
c.*1236G= (n.*1236G=)
c.713G= (p.Gly238=)
c.302G= (p.Gly101=)
c.242G= (p.Gly81=)
c.926G= (p.Gly309=)
c.896G= (p.Gly299=)
c.770G= (p.Gly257=)
c.*228G= (n.*228G=)
16g.27362545G>TCA395297939IL4Rc.1193G>T (p.Gly398Val)
c.1148G>T (p.Gly383Val)
c.230-1558G>T (n.230-1558G>T)
c.*1236G>T (n.*1236G>T)
c.713G>T (p.Gly238Val)
c.302G>T (p.Gly101Val)
c.242G>T (p.Gly81Val)
c.926G>T (p.Gly309Val)
c.896G>T (p.Gly299Val)
c.770G>T (p.Gly257Val)
c.*228G>T (n.*228G>T)
16g.27362546A=CA2215169463IL4Rc.1194A= (p.Gly398=)
c.1149A= (p.Gly383=)
c.230-1557A= (n.230-1557A=)
c.*1237A= (n.*1237A=)
c.714A= (p.Gly238=)
c.303A= (p.Gly101=)
c.243A= (p.Gly81=)
c.927A= (p.Gly309=)
c.897A= (p.Gly299=)
c.771A= (p.Gly257=)
c.*229A= (n.*229A=)
16g.27362546A>CCA494470977IL4Rc.1194A>C (p.Gly398=)
c.1149A>C (p.Gly383=)
c.230-1557A>C (n.230-1557A>C)
c.*1237A>C (n.*1237A>C)
c.714A>C (p.Gly238=)
c.303A>C (p.Gly101=)
c.243A>C (p.Gly81=)
c.927A>C (p.Gly309=)
c.897A>C (p.Gly299=)
c.771A>C (p.Gly257=)
c.*229A>C (n.*229A>C)
16g.27362546A>GCA279686487IL4Rc.1194A>G (p.Gly398=)
c.1149A>G (p.Gly383=)
c.230-1557A>G (n.230-1557A>G)
c.*1237A>G (n.*1237A>G)
c.714A>G (p.Gly238=)
c.303A>G (p.Gly101=)
c.243A>G (p.Gly81=)
c.927A>G (p.Gly309=)
c.897A>G (p.Gly299=)
c.771A>G (p.Gly257=)
c.*229A>G (n.*229A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362546A>TCA494470978IL4Rc.1194A>T (p.Gly398=)
c.1149A>T (p.Gly383=)
c.230-1557A>T (n.230-1557A>T)
c.*1237A>T (n.*1237A>T)
c.714A>T (p.Gly238=)
c.303A>T (p.Gly101=)
c.243A>T (p.Gly81=)
c.927A>T (p.Gly309=)
c.897A>T (p.Gly299=)
c.771A>T (p.Gly257=)
c.*229A>T (n.*229A>T)
16g.27362547A>CCA494470982IL4Rc.1195A>C (p.Arg399=)
c.1150A>C (p.Arg384=)
c.230-1556A>C (n.230-1556A>C)
c.*1238A>C (n.*1238A>C)
c.715A>C (p.Arg239=)
c.304A>C (p.Arg102=)
c.244A>C (p.Arg82=)
c.928A>C (p.Arg310=)
c.898A>C (p.Arg300=)
c.772A>C (p.Arg258=)
c.*230A>C (n.*230A>C)
16g.27362547A>GCA395297940IL4Rc.1195A>G (p.Arg399Gly)
c.1150A>G (p.Arg384Gly)
c.230-1556A>G (n.230-1556A>G)
c.*1238A>G (n.*1238A>G)
c.715A>G (p.Arg239Gly)
c.304A>G (p.Arg102Gly)
c.244A>G (p.Arg82Gly)
c.928A>G (p.Arg310Gly)
c.898A>G (p.Arg300Gly)
c.772A>G (p.Arg258Gly)
c.*230A>G (n.*230A>G)
16g.27362547A>TCA395297941IL4Rc.1195A>T (p.Arg399Trp)
c.1150A>T (p.Arg384Trp)
c.230-1556A>T (n.230-1556A>T)
c.*1238A>T (n.*1238A>T)
c.715A>T (p.Arg239Trp)
c.304A>T (p.Arg102Trp)
c.244A>T (p.Arg82Trp)
c.928A>T (p.Arg310Trp)
c.898A>T (p.Arg300Trp)
c.772A>T (p.Arg258Trp)
c.*230A>T (n.*230A>T)
16g.27362548G>ACA395297942IL4Rc.1196G>A (p.Arg399Lys)
c.1151G>A (p.Arg384Lys)
c.230-1555G>A (n.230-1555G>A)
c.*1239G>A (n.*1239G>A)
c.716G>A (p.Arg239Lys)
c.305G>A (p.Arg102Lys)
c.245G>A (p.Arg82Lys)
c.929G>A (p.Arg310Lys)
c.899G>A (p.Arg300Lys)
c.773G>A (p.Arg258Lys)
c.*231G>A (n.*231G>A)
 gnomAD v4
16g.27362548G>CCA395297943IL4Rc.1196G>C (p.Arg399Thr)
c.1151G>C (p.Arg384Thr)
c.230-1555G>C (n.230-1555G>C)
c.*1239G>C (n.*1239G>C)
c.716G>C (p.Arg239Thr)
c.305G>C (p.Arg102Thr)
c.245G>C (p.Arg82Thr)
c.929G>C (p.Arg310Thr)
c.899G>C (p.Arg300Thr)
c.773G>C (p.Arg258Thr)
c.*231G>C (n.*231G>C)
16g.27362548G>TCA395297944IL4Rc.1196G>T (p.Arg399Met)
c.1151G>T (p.Arg384Met)
c.230-1555G>T (n.230-1555G>T)
c.*1239G>T (n.*1239G>T)
c.716G>T (p.Arg239Met)
c.305G>T (p.Arg102Met)
c.245G>T (p.Arg82Met)
c.929G>T (p.Arg310Met)
c.899G>T (p.Arg300Met)
c.773G>T (p.Arg258Met)
c.*231G>T (n.*231G>T)
16g.27362549G>ACA494470987IL4Rc.1197G>A (p.Arg399=)
c.1152G>A (p.Arg384=)
c.230-1554G>A (n.230-1554G>A)
c.*1240G>A (n.*1240G>A)
c.717G>A (p.Arg239=)
c.306G>A (p.Arg102=)
c.246G>A (p.Arg82=)
c.930G>A (p.Arg310=)
c.900G>A (p.Arg300=)
c.774G>A (p.Arg258=)
c.*232G>A (n.*232G>A)
16g.27362549G>CCA395297945IL4Rc.1197G>C (p.Arg399Ser)
c.1152G>C (p.Arg384Ser)
c.230-1554G>C (n.230-1554G>C)
c.*1240G>C (n.*1240G>C)
c.717G>C (p.Arg239Ser)
c.306G>C (p.Arg102Ser)
c.246G>C (p.Arg82Ser)
c.930G>C (p.Arg310Ser)
c.900G>C (p.Arg300Ser)
c.774G>C (p.Arg258Ser)
c.*232G>C (n.*232G>C)
16g.27362549G>TCA395297946IL4Rc.1197G>T (p.Arg399Ser)
c.1152G>T (p.Arg384Ser)
c.230-1554G>T (n.230-1554G>T)
c.*1240G>T (n.*1240G>T)
c.717G>T (p.Arg239Ser)
c.306G>T (p.Arg102Ser)
c.246G>T (p.Arg82Ser)
c.930G>T (p.Arg310Ser)
c.900G>T (p.Arg300Ser)
c.774G>T (p.Arg258Ser)
c.*232G>T (n.*232G>T)
16g.27362550G>ACA395297947IL4Rc.1198G>A (p.Glu400Lys)
c.1153G>A (p.Glu385Lys)
c.230-1553G>A (n.230-1553G>A)
c.*1241G>A (n.*1241G>A)
c.718G>A (p.Glu240Lys)
c.307G>A (p.Glu103Lys)
c.247G>A (p.Glu83Lys)
c.931G>A (p.Glu311Lys)
c.901G>A (p.Glu301Lys)
c.775G>A (p.Glu259Lys)
c.*233G>A (n.*233G>A)
 dbSNP
16g.27362550G>CCA395297948IL4Rc.1198G>C (p.Glu400Gln)
c.1153G>C (p.Glu385Gln)
c.230-1553G>C (n.230-1553G>C)
c.*1241G>C (n.*1241G>C)
c.718G>C (p.Glu240Gln)
c.307G>C (p.Glu103Gln)
c.247G>C (p.Glu83Gln)
c.931G>C (p.Glu311Gln)
c.901G>C (p.Glu301Gln)
c.775G>C (p.Glu259Gln)
c.*233G>C (n.*233G>C)
16g.27362550G>TCA395297949IL4Rc.1198G>T (p.Glu400Ter)
c.1153G>T (p.Glu385Ter)
c.230-1553G>T (n.230-1553G>T)
c.*1241G>T (n.*1241G>T)
c.718G>T (p.Glu240Ter)
c.307G>T (p.Glu103Ter)
c.247G>T (p.Glu83Ter)
c.931G>T (p.Glu311Ter)
c.901G>T (p.Glu301Ter)
c.775G>T (p.Glu259Ter)
c.*233G>T (n.*233G>T)
16g.27362551A=CA2215169464IL4Rc.1199A= (p.Glu400=)
c.1154A= (p.Glu385=)
c.230-1552A= (n.230-1552A=)
c.*1242A= (n.*1242A=)
c.719A= (p.Glu240=)
c.308A= (p.Glu103=)
c.248A= (p.Glu83=)
c.932A= (p.Glu311=)
c.902A= (p.Glu301=)
c.776A= (p.Glu259=)
c.*234A= (n.*234A=)
16g.27362551A>CCA7974510IL4Rc.1199A>C (p.Glu400Ala)
c.1154A>C (p.Glu385Ala)
c.230-1552A>C (n.230-1552A>C)
c.*1242A>C (n.*1242A>C)
c.719A>C (p.Glu240Ala)
c.308A>C (p.Glu103Ala)
c.248A>C (p.Glu83Ala)
c.932A>C (p.Glu311Ala)
c.902A>C (p.Glu301Ala)
c.776A>C (p.Glu259Ala)
c.*234A>C (n.*234A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362551A>GCA7974511IL4Rc.1199A>G (p.Glu400Gly)
c.1154A>G (p.Glu385Gly)
c.230-1552A>G (n.230-1552A>G)
c.*1242A>G (n.*1242A>G)
c.719A>G (p.Glu240Gly)
c.308A>G (p.Glu103Gly)
c.248A>G (p.Glu83Gly)
c.932A>G (p.Glu311Gly)
c.902A>G (p.Glu301Gly)
c.776A>G (p.Glu259Gly)
c.*234A>G (n.*234A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362551A>TCA7974512IL4Rc.1199A>T (p.Glu400Val)
c.1154A>T (p.Glu385Val)
c.230-1552A>T (n.230-1552A>T)
c.*1242A>T (n.*1242A>T)
c.719A>T (p.Glu240Val)
c.308A>T (p.Glu103Val)
c.248A>T (p.Glu83Val)
c.932A>T (p.Glu311Val)
c.902A>T (p.Glu301Val)
c.776A>T (p.Glu259Val)
c.*234A>T (n.*234A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362552G>ACA7974513IL4Rc.1200G>A (p.Glu400=)
c.1155G>A (p.Glu385=)
c.230-1551G>A (n.230-1551G>A)
c.*1243G>A (n.*1243G>A)
c.720G>A (p.Glu240=)
c.309G>A (p.Glu103=)
c.249G>A (p.Glu83=)
c.933G>A (p.Glu311=)
c.903G>A (p.Glu301=)
c.777G>A (p.Glu259=)
c.*235G>A (n.*235G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362552G>CCA395297950IL4Rc.1200G>C (p.Glu400Asp)
c.1155G>C (p.Glu385Asp)
c.230-1551G>C (n.230-1551G>C)
c.*1243G>C (n.*1243G>C)
c.720G>C (p.Glu240Asp)
c.309G>C (p.Glu103Asp)
c.249G>C (p.Glu83Asp)
c.933G>C (p.Glu311Asp)
c.903G>C (p.Glu301Asp)
c.777G>C (p.Glu259Asp)
c.*235G>C (n.*235G>C)
16g.27362552G=CA2215169468IL4Rc.1200G= (p.Glu400=)
c.1155G= (p.Glu385=)
c.230-1551G= (n.230-1551G=)
c.*1243G= (n.*1243G=)
c.720G= (p.Glu240=)
c.309G= (p.Glu103=)
c.249G= (p.Glu83=)
c.933G= (p.Glu311=)
c.903G= (p.Glu301=)
c.777G= (p.Glu259=)
c.*235G= (n.*235G=)
16g.27362552G>TCA395297951IL4Rc.1200G>T (p.Glu400Asp)
c.1155G>T (p.Glu385Asp)
c.230-1551G>T (n.230-1551G>T)
c.*1243G>T (n.*1243G>T)
c.720G>T (p.Glu240Asp)
c.309G>T (p.Glu103Asp)
c.249G>T (p.Glu83Asp)
c.933G>T (p.Glu311Asp)
c.903G>T (p.Glu301Asp)
c.777G>T (p.Glu259Asp)
c.*235G>T (n.*235G>T)
16g.27362552_27362568delCA976015386IL4Rc.1200_1216del (p.Glu400AspfsTer?)
c.1155_1171del (p.Glu385AspfsTer?)
c.230-1551_230-1535del (n.230-1551_230-1535del)
c.*1243_*1259del (n.*1243_*1259del)
c.720_736del (p.Glu240AspfsTer?)
c.309_325del (p.Glu103AspfsTer?)
c.249_265del (p.Glu83AspfsTer?)
c.933_949del (p.Glu311AspfsTer?)
c.903_919del (p.Glu301AspfsTer?)
c.777_793del (p.Glu259AspfsTer?)
c.*235_*251del (n.*235_*251del)
 gnomAD v3 gnomAD v4
16g.27362553G>ACA395297952IL4Rc.1201G>A (p.Gly401Ser)
c.1156G>A (p.Gly386Ser)
c.230-1550G>A (n.230-1550G>A)
c.*1244G>A (n.*1244G>A)
c.721G>A (p.Gly241Ser)
c.310G>A (p.Gly104Ser)
c.250G>A (p.Gly84Ser)
c.934G>A (p.Gly312Ser)
c.904G>A (p.Gly302Ser)
c.778G>A (p.Gly260Ser)
c.*236G>A (n.*236G>A)
16g.27362553G>CCA395297953IL4Rc.1201G>C (p.Gly401Arg)
c.1156G>C (p.Gly386Arg)
c.230-1550G>C (n.230-1550G>C)
c.*1244G>C (n.*1244G>C)
c.721G>C (p.Gly241Arg)
c.310G>C (p.Gly104Arg)
c.250G>C (p.Gly84Arg)
c.934G>C (p.Gly312Arg)
c.904G>C (p.Gly302Arg)
c.778G>C (p.Gly260Arg)
c.*236G>C (n.*236G>C)
16g.27362553G>TCA395297954IL4Rc.1201G>T (p.Gly401Cys)
c.1156G>T (p.Gly386Cys)
c.230-1550G>T (n.230-1550G>T)
c.*1244G>T (n.*1244G>T)
c.721G>T (p.Gly241Cys)
c.310G>T (p.Gly104Cys)
c.250G>T (p.Gly84Cys)
c.934G>T (p.Gly312Cys)
c.904G>T (p.Gly302Cys)
c.778G>T (p.Gly260Cys)
c.*236G>T (n.*236G>T)
16g.27362554G>ACA279686499IL4Rc.1202G>A (p.Gly401Asp)
c.1157G>A (p.Gly386Asp)
c.230-1549G>A (n.230-1549G>A)
c.*1245G>A (n.*1245G>A)
c.722G>A (p.Gly241Asp)
c.311G>A (p.Gly104Asp)
c.251G>A (p.Gly84Asp)
c.935G>A (p.Gly312Asp)
c.905G>A (p.Gly302Asp)
c.779G>A (p.Gly260Asp)
c.*237G>A (n.*237G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.27362554G>CCA395297956IL4Rc.1202G>C (p.Gly401Ala)
c.1157G>C (p.Gly386Ala)
c.230-1549G>C (n.230-1549G>C)
c.*1245G>C (n.*1245G>C)
c.722G>C (p.Gly241Ala)
c.311G>C (p.Gly104Ala)
c.251G>C (p.Gly84Ala)
c.935G>C (p.Gly312Ala)
c.905G>C (p.Gly302Ala)
c.779G>C (p.Gly260Ala)
c.*237G>C (n.*237G>C)
16g.27362554G=CA2215169469IL4Rc.1202G= (p.Gly401=)
c.1157G= (p.Gly386=)
c.230-1549G= (n.230-1549G=)
c.*1245G= (n.*1245G=)
c.722G= (p.Gly241=)
c.311G= (p.Gly104=)
c.251G= (p.Gly84=)
c.935G= (p.Gly312=)
c.905G= (p.Gly302=)
c.779G= (p.Gly260=)
c.*237G= (n.*237G=)
16g.27362554G>TCA395297955IL4Rc.1202G>T (p.Gly401Val)
c.1157G>T (p.Gly386Val)
c.230-1549G>T (n.230-1549G>T)
c.*1245G>T (n.*1245G>T)
c.722G>T (p.Gly241Val)
c.311G>T (p.Gly104Val)
c.251G>T (p.Gly84Val)
c.935G>T (p.Gly312Val)
c.905G>T (p.Gly302Val)
c.779G>T (p.Gly260Val)
c.*237G>T (n.*237G>T)
16g.27362555C>ACA494471001IL4Rc.1203C>A (p.Gly401=)
c.1158C>A (p.Gly386=)
c.230-1548C>A (n.230-1548C>A)
c.*1246C>A (n.*1246C>A)
c.723C>A (p.Gly241=)
c.312C>A (p.Gly104=)
c.252C>A (p.Gly84=)
c.936C>A (p.Gly312=)
c.906C>A (p.Gly302=)
c.780C>A (p.Gly260=)
c.*238C>A (n.*238C>A)
16g.27362555C>GCA494471003IL4Rc.1203C>G (p.Gly401=)
c.1158C>G (p.Gly386=)
c.230-1548C>G (n.230-1548C>G)
c.*1246C>G (n.*1246C>G)
c.723C>G (p.Gly241=)
c.312C>G (p.Gly104=)
c.252C>G (p.Gly84=)
c.936C>G (p.Gly312=)
c.906C>G (p.Gly302=)
c.780C>G (p.Gly260=)
c.*238C>G (n.*238C>G)
16g.27362555C>TCA494471005IL4Rc.1203C>T (p.Gly401=)
c.1158C>T (p.Gly386=)
c.230-1548C>T (n.230-1548C>T)
c.*1246C>T (n.*1246C>T)
c.723C>T (p.Gly241=)
c.312C>T (p.Gly104=)
c.252C>T (p.Gly84=)
c.936C>T (p.Gly312=)
c.906C>T (p.Gly302=)
c.780C>T (p.Gly260=)
c.*238C>T (n.*238C>T)
16g.27362555_27362558delCA2575952893IL4Rc.1203_1206del (p.Ile402TrpfsTer4)
c.1158_1161del (p.Ile387TrpfsTer4)
c.230-1548_230-1545del (n.230-1548_230-1545del)
c.*1246_*1249del (n.*1246_*1249del)
c.723_726del (p.Ile242TrpfsTer4)
c.312_315del (p.Ile105TrpfsTer4)
c.252_255del (p.Ile85TrpfsTer4)
c.936_939del (p.Ile313TrpfsTer4)
c.906_909del (p.Ile303TrpfsTer4)
c.780_783del (p.Ile261TrpfsTer4)
c.*238_*241del (n.*238_*241del)
16g.27362556A>CCA395297959IL4Rc.1204A>C (p.Ile402Leu)
c.1159A>C (p.Ile387Leu)
c.230-1547A>C (n.230-1547A>C)
c.*1247A>C (n.*1247A>C)
c.724A>C (p.Ile242Leu)
c.313A>C (p.Ile105Leu)
c.253A>C (p.Ile85Leu)
c.937A>C (p.Ile313Leu)
c.907A>C (p.Ile303Leu)
c.781A>C (p.Ile261Leu)
c.*239A>C (n.*239A>C)
16g.27362556A>GCA395297957IL4Rc.1204A>G (p.Ile402Val)
c.1159A>G (p.Ile387Val)
c.230-1547A>G (n.230-1547A>G)
c.*1247A>G (n.*1247A>G)
c.724A>G (p.Ile242Val)
c.313A>G (p.Ile105Val)
c.253A>G (p.Ile85Val)
c.937A>G (p.Ile313Val)
c.907A>G (p.Ile303Val)
c.781A>G (p.Ile261Val)
c.*239A>G (n.*239A>G)
16g.27362556A>TCA395297958IL4Rc.1204A>T (p.Ile402Phe)
c.1159A>T (p.Ile387Phe)
c.230-1547A>T (n.230-1547A>T)
c.*1247A>T (n.*1247A>T)
c.724A>T (p.Ile242Phe)
c.313A>T (p.Ile105Phe)
c.253A>T (p.Ile85Phe)
c.937A>T (p.Ile313Phe)
c.907A>T (p.Ile303Phe)
c.781A>T (p.Ile261Phe)
c.*239A>T (n.*239A>T)
16g.27362557T>ACA395297960IL4Rc.1205T>A (p.Ile402Asn)
c.1160T>A (p.Ile387Asn)
c.230-1546T>A (n.230-1546T>A)
c.*1248T>A (n.*1248T>A)
c.725T>A (p.Ile242Asn)
c.314T>A (p.Ile105Asn)
c.254T>A (p.Ile85Asn)
c.938T>A (p.Ile313Asn)
c.908T>A (p.Ile303Asn)
c.782T>A (p.Ile261Asn)
c.*240T>A (n.*240T>A)
16g.27362557T>CCA7974514IL4Rc.1205T>C (p.Ile402Thr)
c.1160T>C (p.Ile387Thr)
c.230-1546T>C (n.230-1546T>C)
c.*1248T>C (n.*1248T>C)
c.725T>C (p.Ile242Thr)
c.314T>C (p.Ile105Thr)
c.254T>C (p.Ile85Thr)
c.938T>C (p.Ile313Thr)
c.908T>C (p.Ile303Thr)
c.782T>C (p.Ile261Thr)
c.*240T>C (n.*240T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362557T>GCA395297961IL4Rc.1205T>G (p.Ile402Ser)
c.1160T>G (p.Ile387Ser)
c.230-1546T>G (n.230-1546T>G)
c.*1248T>G (n.*1248T>G)
c.725T>G (p.Ile242Ser)
c.314T>G (p.Ile105Ser)
c.254T>G (p.Ile85Ser)
c.938T>G (p.Ile313Ser)
c.908T>G (p.Ile303Ser)
c.782T>G (p.Ile261Ser)
c.*240T>G (n.*240T>G)
16g.27362557T=CA2215169470IL4Rc.1205T= (p.Ile402=)
c.1160T= (p.Ile387=)
c.230-1546T= (n.230-1546T=)
c.*1248T= (n.*1248T=)
c.725T= (p.Ile242=)
c.314T= (p.Ile105=)
c.254T= (p.Ile85=)
c.938T= (p.Ile313=)
c.908T= (p.Ile303=)
c.782T= (p.Ile261=)
c.*240T= (n.*240T=)
16g.27362558T>ACA494470333IL4Rc.1206T>A (p.Ile402=)
c.1161T>A (p.Ile387=)
c.230-1545T>A (n.230-1545T>A)
c.*1249T>A (n.*1249T>A)
c.726T>A (p.Ile242=)
c.315T>A (p.Ile105=)
c.255T>A (p.Ile85=)
c.939T>A (p.Ile313=)
c.909T>A (p.Ile303=)
c.783T>A (p.Ile261=)
c.*241T>A (n.*241T>A)
16g.27362558T>CCA494470336IL4Rc.1206T>C (p.Ile402=)
c.1161T>C (p.Ile387=)
c.230-1545T>C (n.230-1545T>C)
c.*1249T>C (n.*1249T>C)
c.726T>C (p.Ile242=)
c.315T>C (p.Ile105=)
c.255T>C (p.Ile85=)
c.939T>C (p.Ile313=)
c.909T>C (p.Ile303=)
c.783T>C (p.Ile261=)
c.*241T>C (n.*241T>C)
 dbSNP gnomAD v4
16g.27362558T>GCA395297962IL4Rc.1206T>G (p.Ile402Met)
c.1161T>G (p.Ile387Met)
c.230-1545T>G (n.230-1545T>G)
c.*1249T>G (n.*1249T>G)
c.726T>G (p.Ile242Met)
c.315T>G (p.Ile105Met)
c.255T>G (p.Ile85Met)
c.939T>G (p.Ile313Met)
c.909T>G (p.Ile303Met)
c.783T>G (p.Ile261Met)
c.*241T>G (n.*241T>G)
16g.27362558T=CA2215169475IL4Rc.1206T= (p.Ile402=)
c.1161T= (p.Ile387=)
c.230-1545T= (n.230-1545T=)
c.*1249T= (n.*1249T=)
c.726T= (p.Ile242=)
c.315T= (p.Ile105=)
c.255T= (p.Ile85=)
c.939T= (p.Ile313=)
c.909T= (p.Ile303=)
c.783T= (p.Ile261=)
c.*241T= (n.*241T=)
16g.27362559G>ACA395297963IL4Rc.1207G>A (p.Val403Met)
c.1162G>A (p.Val388Met)
c.230-1544G>A (n.230-1544G>A)
c.*1250G>A (n.*1250G>A)
c.727G>A (p.Val243Met)
c.316G>A (p.Val106Met)
c.256G>A (p.Val86Met)
c.940G>A (p.Val314Met)
c.910G>A (p.Val304Met)
c.784G>A (p.Val262Met)
c.*242G>A (n.*242G>A)
16g.27362559G>CCA395297964IL4Rc.1207G>C (p.Val403Leu)
c.1162G>C (p.Val388Leu)
c.230-1544G>C (n.230-1544G>C)
c.*1250G>C (n.*1250G>C)
c.727G>C (p.Val243Leu)
c.316G>C (p.Val106Leu)
c.256G>C (p.Val86Leu)
c.940G>C (p.Val314Leu)
c.910G>C (p.Val304Leu)
c.784G>C (p.Val262Leu)
c.*242G>C (n.*242G>C)
16g.27362559G=CA2215169478IL4Rc.1207G= (p.Val403=)
c.1162G= (p.Val388=)
c.230-1544G= (n.230-1544G=)
c.*1250G= (n.*1250G=)
c.727G= (p.Val243=)
c.316G= (p.Val106=)
c.256G= (p.Val86=)
c.940G= (p.Val314=)
c.910G= (p.Val304=)
c.784G= (p.Val262=)
c.*242G= (n.*242G=)
16g.27362559G>TCA395297965IL4Rc.1207G>T (p.Val403Leu)
c.1162G>T (p.Val388Leu)
c.230-1544G>T (n.230-1544G>T)
c.*1250G>T (n.*1250G>T)
c.727G>T (p.Val243Leu)
c.316G>T (p.Val106Leu)
c.256G>T (p.Val86Leu)
c.940G>T (p.Val314Leu)
c.910G>T (p.Val304Leu)
c.784G>T (p.Val262Leu)
c.*242G>T (n.*242G>T)
 dbSNP gnomAD v2
16g.27362560T>ACA395297966IL4Rc.1208T>A (p.Val403Glu)
c.1163T>A (p.Val388Glu)
c.230-1543T>A (n.230-1543T>A)
c.*1251T>A (n.*1251T>A)
c.728T>A (p.Val243Glu)
c.317T>A (p.Val106Glu)
c.257T>A (p.Val86Glu)
c.941T>A (p.Val314Glu)
c.911T>A (p.Val304Glu)
c.785T>A (p.Val262Glu)
c.*243T>A (n.*243T>A)
16g.27362560T>CCA395297967IL4Rc.1208T>C (p.Val403Ala)
c.1163T>C (p.Val388Ala)
c.230-1543T>C (n.230-1543T>C)
c.*1251T>C (n.*1251T>C)
c.728T>C (p.Val243Ala)
c.317T>C (p.Val106Ala)
c.257T>C (p.Val86Ala)
c.941T>C (p.Val314Ala)
c.911T>C (p.Val304Ala)
c.785T>C (p.Val262Ala)
c.*243T>C (n.*243T>C)
16g.27362560T>GCA395297968IL4Rc.1208T>G (p.Val403Gly)
c.1163T>G (p.Val388Gly)
c.230-1543T>G (n.230-1543T>G)
c.*1251T>G (n.*1251T>G)
c.728T>G (p.Val243Gly)
c.317T>G (p.Val106Gly)
c.257T>G (p.Val86Gly)
c.941T>G (p.Val314Gly)
c.911T>G (p.Val304Gly)
c.785T>G (p.Val262Gly)
c.*243T>G (n.*243T>G)
16g.27362561G>ACA494470342IL4Rc.1209G>A (p.Val403=)
c.1164G>A (p.Val388=)
c.230-1542G>A (n.230-1542G>A)
c.*1252G>A (n.*1252G>A)
c.729G>A (p.Val243=)
c.318G>A (p.Val106=)
c.258G>A (p.Val86=)
c.942G>A (p.Val314=)
c.912G>A (p.Val304=)
c.786G>A (p.Val262=)
c.*244G>A (n.*244G>A)
16g.27362561G>CCA494470343IL4Rc.1209G>C (p.Val403=)
c.1164G>C (p.Val388=)
c.230-1542G>C (n.230-1542G>C)
c.*1252G>C (n.*1252G>C)
c.729G>C (p.Val243=)
c.318G>C (p.Val106=)
c.258G>C (p.Val86=)
c.942G>C (p.Val314=)
c.912G>C (p.Val304=)
c.786G>C (p.Val262=)
c.*244G>C (n.*244G>C)
16g.27362561G>TCA494470345IL4Rc.1209G>T (p.Val403=)
c.1164G>T (p.Val388=)
c.230-1542G>T (n.230-1542G>T)
c.*1252G>T (n.*1252G>T)
c.729G>T (p.Val243=)
c.318G>T (p.Val106=)
c.258G>T (p.Val86=)
c.942G>T (p.Val314=)
c.912G>T (p.Val304=)
c.786G>T (p.Val262=)
c.*244G>T (n.*244G>T)
16g.27362562G>ACA279686502IL4Rc.1210G>A (p.Ala404Thr)
c.1165G>A (p.Ala389Thr)
c.230-1541G>A (n.230-1541G>A)
c.*1253G>A (n.*1253G>A)
c.730G>A (p.Ala244Thr)
c.319G>A (p.Ala107Thr)
c.259G>A (p.Ala87Thr)
c.943G>A (p.Ala315Thr)
c.913G>A (p.Ala305Thr)
c.787G>A (p.Ala263Thr)
c.*245G>A (n.*245G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.27362562G>CCA395297969IL4Rc.1210G>C (p.Ala404Pro)
c.1165G>C (p.Ala389Pro)
c.230-1541G>C (n.230-1541G>C)
c.*1253G>C (n.*1253G>C)
c.730G>C (p.Ala244Pro)
c.319G>C (p.Ala107Pro)
c.259G>C (p.Ala87Pro)
c.943G>C (p.Ala315Pro)
c.913G>C (p.Ala305Pro)
c.787G>C (p.Ala263Pro)
c.*245G>C (n.*245G>C)
16g.27362562G=CA2215169487IL4Rc.1210G= (p.Ala404=)
c.1165G= (p.Ala389=)
c.230-1541G= (n.230-1541G=)
c.*1253G= (n.*1253G=)
c.730G= (p.Ala244=)
c.319G= (p.Ala107=)
c.259G= (p.Ala87=)
c.943G= (p.Ala315=)
c.913G= (p.Ala305=)
c.787G= (p.Ala263=)
c.*245G= (n.*245G=)
16g.27362562G>TCA395297970IL4Rc.1210G>T (p.Ala404Ser)
c.1165G>T (p.Ala389Ser)
c.230-1541G>T (n.230-1541G>T)
c.*1253G>T (n.*1253G>T)
c.730G>T (p.Ala244Ser)
c.319G>T (p.Ala107Ser)
c.259G>T (p.Ala87Ser)
c.943G>T (p.Ala315Ser)
c.913G>T (p.Ala305Ser)
c.787G>T (p.Ala263Ser)
c.*245G>T (n.*245G>T)
16g.27362563C>ACA395297971IL4Rc.1211C>A (p.Ala404Asp)
c.1166C>A (p.Ala389Asp)
c.230-1540C>A (n.230-1540C>A)
c.*1254C>A (n.*1254C>A)
c.731C>A (p.Ala244Asp)
c.320C>A (p.Ala107Asp)
c.260C>A (p.Ala87Asp)
c.944C>A (p.Ala315Asp)
c.914C>A (p.Ala305Asp)
c.788C>A (p.Ala263Asp)
c.*246C>A (n.*246C>A)
16g.27362563C=CA2215169488IL4Rc.1211C= (p.Ala404=)
c.1166C= (p.Ala389=)
c.230-1540C= (n.230-1540C=)
c.*1254C= (n.*1254C=)
c.731C= (p.Ala244=)
c.320C= (p.Ala107=)
c.260C= (p.Ala87=)
c.944C= (p.Ala315=)
c.914C= (p.Ala305=)
c.788C= (p.Ala263=)
c.*246C= (n.*246C=)
16g.27362563C>GCA395297972IL4Rc.1211C>G (p.Ala404Gly)
c.1166C>G (p.Ala389Gly)
c.230-1540C>G (n.230-1540C>G)
c.*1254C>G (n.*1254C>G)
c.731C>G (p.Ala244Gly)
c.320C>G (p.Ala107Gly)
c.260C>G (p.Ala87Gly)
c.944C>G (p.Ala315Gly)
c.914C>G (p.Ala305Gly)
c.788C>G (p.Ala263Gly)
c.*246C>G (n.*246C>G)
 dbSNP gnomAD v3 gnomAD v4
16g.27362563C>TCA7974515IL4Rc.1211C>T (p.Ala404Val)
c.1166C>T (p.Ala389Val)
c.230-1540C>T (n.230-1540C>T)
c.*1254C>T (n.*1254C>T)
c.731C>T (p.Ala244Val)
c.320C>T (p.Ala107Val)
c.260C>T (p.Ala87Val)
c.944C>T (p.Ala315Val)
c.914C>T (p.Ala305Val)
c.788C>T (p.Ala263Val)
c.*246C>T (n.*246C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362564C>ACA494470348IL4Rc.1212C>A (p.Ala404=)
c.1167C>A (p.Ala389=)
c.230-1539C>A (n.230-1539C>A)
c.*1255C>A (n.*1255C>A)
c.732C>A (p.Ala244=)
c.321C>A (p.Ala107=)
c.261C>A (p.Ala87=)
c.945C>A (p.Ala315=)
c.915C>A (p.Ala305=)
c.789C>A (p.Ala263=)
c.*247C>A (n.*247C>A)
16g.27362564C>GCA494470349IL4Rc.1212C>G (p.Ala404=)
c.1167C>G (p.Ala389=)
c.230-1539C>G (n.230-1539C>G)
c.*1255C>G (n.*1255C>G)
c.732C>G (p.Ala244=)
c.321C>G (p.Ala107=)
c.261C>G (p.Ala87=)
c.945C>G (p.Ala315=)
c.915C>G (p.Ala305=)
c.789C>G (p.Ala263=)
c.*247C>G (n.*247C>G)
 gnomAD v4
16g.27362564C>TCA494470351IL4Rc.1212C>T (p.Ala404=)
c.1167C>T (p.Ala389=)
c.230-1539C>T (n.230-1539C>T)
c.*1255C>T (n.*1255C>T)
c.732C>T (p.Ala244=)
c.321C>T (p.Ala107=)
c.261C>T (p.Ala87=)
c.945C>T (p.Ala315=)
c.915C>T (p.Ala305=)
c.789C>T (p.Ala263=)
c.*247C>T (n.*247C>T)
16g.27362565C>ACA494470352IL4Rc.1213C>A (p.Arg405=)
c.1168C>A (p.Arg390=)
c.230-1538C>A (n.230-1538C>A)
c.*1256C>A (n.*1256C>A)
c.733C>A (p.Arg245=)
c.322C>A (p.Arg108=)
c.262C>A (p.Arg88=)
c.946C>A (p.Arg316=)
c.916C>A (p.Arg306=)
c.790C>A (p.Arg264=)
c.*248C>A (n.*248C>A)
16g.27362565C=CA2215169492IL4Rc.1213C= (p.Arg405=)
c.1168C= (p.Arg390=)
c.230-1538C= (n.230-1538C=)
c.*1256C= (n.*1256C=)
c.733C= (p.Arg245=)
c.322C= (p.Arg108=)
c.262C= (p.Arg88=)
c.946C= (p.Arg316=)
c.916C= (p.Arg306=)
c.790C= (p.Arg264=)
c.*248C= (n.*248C=)
16g.27362565C>GCA395297973IL4Rc.1213C>G (p.Arg405Gly)
c.1168C>G (p.Arg390Gly)
c.230-1538C>G (n.230-1538C>G)
c.*1256C>G (n.*1256C>G)
c.733C>G (p.Arg245Gly)
c.322C>G (p.Arg108Gly)
c.262C>G (p.Arg88Gly)
c.946C>G (p.Arg316Gly)
c.916C>G (p.Arg306Gly)
c.790C>G (p.Arg264Gly)
c.*248C>G (n.*248C>G)
16g.27362565C>TCA7974516IL4Rc.1213C>T (p.Arg405Trp)
c.1168C>T (p.Arg390Trp)
c.230-1538C>T (n.230-1538C>T)
c.*1256C>T (n.*1256C>T)
c.733C>T (p.Arg245Trp)
c.322C>T (p.Arg108Trp)
c.262C>T (p.Arg88Trp)
c.946C>T (p.Arg316Trp)
c.916C>T (p.Arg306Trp)
c.790C>T (p.Arg264Trp)
c.*248C>T (n.*248C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362566G>ACA7974517IL4Rc.1214G>A (p.Arg405Gln)
c.1169G>A (p.Arg390Gln)
c.230-1537G>A (n.230-1537G>A)
c.*1257G>A (n.*1257G>A)
c.734G>A (p.Arg245Gln)
c.323G>A (p.Arg108Gln)
c.263G>A (p.Arg88Gln)
c.947G>A (p.Arg316Gln)
c.917G>A (p.Arg306Gln)
c.791G>A (p.Arg264Gln)
c.*249G>A (n.*249G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362566G>CCA395297974IL4Rc.1214G>C (p.Arg405Pro)
c.1169G>C (p.Arg390Pro)
c.230-1537G>C (n.230-1537G>C)
c.*1257G>C (n.*1257G>C)
c.734G>C (p.Arg245Pro)
c.323G>C (p.Arg108Pro)
c.263G>C (p.Arg88Pro)
c.947G>C (p.Arg316Pro)
c.917G>C (p.Arg306Pro)
c.791G>C (p.Arg264Pro)
c.*249G>C (n.*249G>C)
16g.27362566G=CA2215169493IL4Rc.1214G= (p.Arg405=)
c.1169G= (p.Arg390=)
c.230-1537G= (n.230-1537G=)
c.*1257G= (n.*1257G=)
c.734G= (p.Arg245=)
c.323G= (p.Arg108=)
c.263G= (p.Arg88=)
c.947G= (p.Arg316=)
c.917G= (p.Arg306=)
c.791G= (p.Arg264=)
c.*249G= (n.*249G=)
16g.27362566G>TCA395297975IL4Rc.1214G>T (p.Arg405Leu)
c.1169G>T (p.Arg390Leu)
c.230-1537G>T (n.230-1537G>T)
c.*1257G>T (n.*1257G>T)
c.734G>T (p.Arg245Leu)
c.323G>T (p.Arg108Leu)
c.263G>T (p.Arg88Leu)
c.947G>T (p.Arg316Leu)
c.917G>T (p.Arg306Leu)
c.791G>T (p.Arg264Leu)
c.*249G>T (n.*249G>T)
 dbSNP gnomAD v2 gnomAD v4
16g.27362567G>ACA7974518IL4Rc.1215G>A (p.Arg405=)
c.1170G>A (p.Arg390=)
c.230-1536G>A (n.230-1536G>A)
c.*1258G>A (n.*1258G>A)
c.735G>A (p.Arg245=)
c.324G>A (p.Arg108=)
c.264G>A (p.Arg88=)
c.948G>A (p.Arg316=)
c.918G>A (p.Arg306=)
c.792G>A (p.Arg264=)
c.*250G>A (n.*250G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362567G>CCA494470360IL4Rc.1215G>C (p.Arg405=)
c.1170G>C (p.Arg390=)
c.230-1536G>C (n.230-1536G>C)
c.*1258G>C (n.*1258G>C)
c.735G>C (p.Arg245=)
c.324G>C (p.Arg108=)
c.264G>C (p.Arg88=)
c.948G>C (p.Arg316=)
c.918G>C (p.Arg306=)
c.792G>C (p.Arg264=)
c.*250G>C (n.*250G>C)
16g.27362567G=CA2215169494IL4Rc.1215G= (p.Arg405=)
c.1170G= (p.Arg390=)
c.230-1536G= (n.230-1536G=)
c.*1258G= (n.*1258G=)
c.735G= (p.Arg245=)
c.324G= (p.Arg108=)
c.264G= (p.Arg88=)
c.948G= (p.Arg316=)
c.918G= (p.Arg306=)
c.792G= (p.Arg264=)
c.*250G= (n.*250G=)
16g.27362567G>TCA494470361IL4Rc.1215G>T (p.Arg405=)
c.1170G>T (p.Arg390=)
c.230-1536G>T (n.230-1536G>T)
c.*1258G>T (n.*1258G>T)
c.735G>T (p.Arg245=)
c.324G>T (p.Arg108=)
c.264G>T (p.Arg88=)
c.948G>T (p.Arg316=)
c.918G>T (p.Arg306=)
c.792G>T (p.Arg264=)
c.*250G>T (n.*250G>T)
16g.27362568C>ACA395297976IL4Rc.1216C>A (p.Leu406Ile)
c.1171C>A (p.Leu391Ile)
c.230-1535C>A (n.230-1535C>A)
c.*1259C>A (n.*1259C>A)
c.736C>A (p.Leu246Ile)
c.325C>A (p.Leu109Ile)
c.265C>A (p.Leu89Ile)
c.949C>A (p.Leu317Ile)
c.919C>A (p.Leu307Ile)
c.793C>A (p.Leu265Ile)
c.*251C>A (n.*251C>A)
16g.27362568C>GCA395297977IL4Rc.1216C>G (p.Leu406Val)
c.1171C>G (p.Leu391Val)
c.230-1535C>G (n.230-1535C>G)
c.*1259C>G (n.*1259C>G)
c.736C>G (p.Leu246Val)
c.325C>G (p.Leu109Val)
c.265C>G (p.Leu89Val)
c.949C>G (p.Leu317Val)
c.919C>G (p.Leu307Val)
c.793C>G (p.Leu265Val)
c.*251C>G (n.*251C>G)
16g.27362568C>TCA494470363IL4Rc.1216C>T (p.Leu406=)
c.1171C>T (p.Leu391=)
c.230-1535C>T (n.230-1535C>T)
c.*1259C>T (n.*1259C>T)
c.736C>T (p.Leu246=)
c.325C>T (p.Leu109=)
c.265C>T (p.Leu89=)
c.949C>T (p.Leu317=)
c.919C>T (p.Leu307=)
c.793C>T (p.Leu265=)
c.*251C>T (n.*251C>T)
16g.27362569T>ACA395297979IL4Rc.1217T>A (p.Leu406Gln)
c.1172T>A (p.Leu391Gln)
c.230-1534T>A (n.230-1534T>A)
c.*1260T>A (n.*1260T>A)
c.737T>A (p.Leu246Gln)
c.326T>A (p.Leu109Gln)
c.266T>A (p.Leu89Gln)
c.950T>A (p.Leu317Gln)
c.920T>A (p.Leu307Gln)
c.794T>A (p.Leu265Gln)
c.*252T>A (n.*252T>A)
16g.27362569T>CCA395297980IL4Rc.1217T>C (p.Leu406Pro)
c.1172T>C (p.Leu391Pro)
c.230-1534T>C (n.230-1534T>C)
c.*1260T>C (n.*1260T>C)
c.737T>C (p.Leu246Pro)
c.326T>C (p.Leu109Pro)
c.266T>C (p.Leu89Pro)
c.950T>C (p.Leu317Pro)
c.920T>C (p.Leu307Pro)
c.794T>C (p.Leu265Pro)
c.*252T>C (n.*252T>C)
16g.27362569T>GCA395297978IL4Rc.1217T>G (p.Leu406Arg)
c.1172T>G (p.Leu391Arg)
c.230-1534T>G (n.230-1534T>G)
c.*1260T>G (n.*1260T>G)
c.737T>G (p.Leu246Arg)
c.326T>G (p.Leu109Arg)
c.266T>G (p.Leu89Arg)
c.950T>G (p.Leu317Arg)
c.920T>G (p.Leu307Arg)
c.794T>G (p.Leu265Arg)
c.*252T>G (n.*252T>G)
16g.27362570A>CCA494470367IL4Rc.1218A>C (p.Leu406=)
c.1173A>C (p.Leu391=)
c.230-1533A>C (n.230-1533A>C)
c.*1261A>C (n.*1261A>C)
c.738A>C (p.Leu246=)
c.327A>C (p.Leu109=)
c.267A>C (p.Leu89=)
c.951A>C (p.Leu317=)
c.921A>C (p.Leu307=)
c.795A>C (p.Leu265=)
c.*253A>C (n.*253A>C)
16g.27362570A>GCA494470369IL4Rc.1218A>G (p.Leu406=)
c.1173A>G (p.Leu391=)
c.230-1533A>G (n.230-1533A>G)
c.*1261A>G (n.*1261A>G)
c.738A>G (p.Leu246=)
c.327A>G (p.Leu109=)
c.267A>G (p.Leu89=)
c.951A>G (p.Leu317=)
c.921A>G (p.Leu307=)
c.795A>G (p.Leu265=)
c.*253A>G (n.*253A>G)
 gnomAD v4
16g.27362570A>TCA494470370IL4Rc.1218A>T (p.Leu406=)
c.1173A>T (p.Leu391=)
c.230-1533A>T (n.230-1533A>T)
c.*1261A>T (n.*1261A>T)
c.738A>T (p.Leu246=)
c.327A>T (p.Leu109=)
c.267A>T (p.Leu89=)
c.951A>T (p.Leu317=)
c.921A>T (p.Leu307=)
c.795A>T (p.Leu265=)
c.*253A>T (n.*253A>T)
16g.27362571A=CA2215169495IL4Rc.1219A= (p.Thr407=)
c.1174A= (p.Thr392=)
c.230-1532A= (n.230-1532A=)
c.*1262A= (n.*1262A=)
c.739A= (p.Thr247=)
c.328A= (p.Thr110=)
c.268A= (p.Thr90=)
c.952A= (p.Thr318=)
c.922A= (p.Thr308=)
c.796A= (p.Thr266=)
c.*254A= (n.*254A=)
16g.27362571A>CCA395297981IL4Rc.1219A>C (p.Thr407Pro)
c.1174A>C (p.Thr392Pro)
c.230-1532A>C (n.230-1532A>C)
c.*1262A>C (n.*1262A>C)
c.739A>C (p.Thr247Pro)
c.328A>C (p.Thr110Pro)
c.268A>C (p.Thr90Pro)
c.952A>C (p.Thr318Pro)
c.922A>C (p.Thr308Pro)
c.796A>C (p.Thr266Pro)
c.*254A>C (n.*254A>C)
16g.27362571A>GCA7974519IL4Rc.1219A>G (p.Thr407Ala)
c.1174A>G (p.Thr392Ala)
c.230-1532A>G (n.230-1532A>G)
c.*1262A>G (n.*1262A>G)
c.739A>G (p.Thr247Ala)
c.328A>G (p.Thr110Ala)
c.268A>G (p.Thr90Ala)
c.952A>G (p.Thr318Ala)
c.922A>G (p.Thr308Ala)
c.796A>G (p.Thr266Ala)
c.*254A>G (n.*254A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362571A>TCA395297982IL4Rc.1219A>T (p.Thr407Ser)
c.1174A>T (p.Thr392Ser)
c.230-1532A>T (n.230-1532A>T)
c.*1262A>T (n.*1262A>T)
c.739A>T (p.Thr247Ser)
c.328A>T (p.Thr110Ser)
c.268A>T (p.Thr90Ser)
c.952A>T (p.Thr318Ser)
c.922A>T (p.Thr308Ser)
c.796A>T (p.Thr266Ser)
c.*254A>T (n.*254A>T)
16g.27362572C>ACA395297983IL4Rc.1220C>A (p.Thr407Lys)
c.1175C>A (p.Thr392Lys)
c.230-1531C>A (n.230-1531C>A)
c.*1263C>A (n.*1263C>A)
c.740C>A (p.Thr247Lys)
c.329C>A (p.Thr110Lys)
c.269C>A (p.Thr90Lys)
c.953C>A (p.Thr318Lys)
c.923C>A (p.Thr308Lys)
c.797C>A (p.Thr266Lys)
c.*255C>A (n.*255C>A)
16g.27362572C=CA2215169497IL4Rc.1220C= (p.Thr407=)
c.1175C= (p.Thr392=)
c.230-1531C= (n.230-1531C=)
c.*1263C= (n.*1263C=)
c.740C= (p.Thr247=)
c.329C= (p.Thr110=)
c.269C= (p.Thr90=)
c.953C= (p.Thr318=)
c.923C= (p.Thr308=)
c.797C= (p.Thr266=)
c.*255C= (n.*255C=)
16g.27362572C>GCA395297984IL4Rc.1220C>G (p.Thr407Arg)
c.1175C>G (p.Thr392Arg)
c.230-1531C>G (n.230-1531C>G)
c.*1263C>G (n.*1263C>G)
c.740C>G (p.Thr247Arg)
c.329C>G (p.Thr110Arg)
c.269C>G (p.Thr90Arg)
c.953C>G (p.Thr318Arg)
c.923C>G (p.Thr308Arg)
c.797C>G (p.Thr266Arg)
c.*255C>G (n.*255C>G)
16g.27362572C>TCA395297985IL4Rc.1220C>T (p.Thr407Ile)
c.1175C>T (p.Thr392Ile)
c.230-1531C>T (n.230-1531C>T)
c.*1263C>T (n.*1263C>T)
c.740C>T (p.Thr247Ile)
c.329C>T (p.Thr110Ile)
c.269C>T (p.Thr90Ile)
c.953C>T (p.Thr318Ile)
c.923C>T (p.Thr308Ile)
c.797C>T (p.Thr266Ile)
c.*255C>T (n.*255C>T)
 dbSNP
16g.27362573A>CCA494470372IL4Rc.1221A>C (p.Thr407=)
c.1176A>C (p.Thr392=)
c.230-1530A>C (n.230-1530A>C)
c.*1264A>C (n.*1264A>C)
c.741A>C (p.Thr247=)
c.330A>C (p.Thr110=)
c.270A>C (p.Thr90=)
c.954A>C (p.Thr318=)
c.924A>C (p.Thr308=)
c.798A>C (p.Thr266=)
c.*256A>C (n.*256A>C)
16g.27362573A>GCA494470373IL4Rc.1221A>G (p.Thr407=)
c.1176A>G (p.Thr392=)
c.230-1530A>G (n.230-1530A>G)
c.*1264A>G (n.*1264A>G)
c.741A>G (p.Thr247=)
c.330A>G (p.Thr110=)
c.270A>G (p.Thr90=)
c.954A>G (p.Thr318=)
c.924A>G (p.Thr308=)
c.798A>G (p.Thr266=)
c.*256A>G (n.*256A>G)
16g.27362573A>TCA494470374IL4Rc.1221A>T (p.Thr407=)
c.1176A>T (p.Thr392=)
c.230-1530A>T (n.230-1530A>T)
c.*1264A>T (n.*1264A>T)
c.741A>T (p.Thr247=)
c.330A>T (p.Thr110=)
c.270A>T (p.Thr90=)
c.954A>T (p.Thr318=)
c.924A>T (p.Thr308=)
c.798A>T (p.Thr266=)
c.*256A>T (n.*256A>T)
16g.27362574G>ACA395297988IL4Rc.1222G>A (p.Glu408Lys)
c.1177G>A (p.Glu393Lys)
c.230-1529G>A (n.230-1529G>A)
c.*1265G>A (n.*1265G>A)
c.742G>A (p.Glu248Lys)
c.331G>A (p.Glu111Lys)
c.271G>A (p.Glu91Lys)
c.955G>A (p.Glu319Lys)
c.925G>A (p.Glu309Lys)
c.799G>A (p.Glu267Lys)
c.*257G>A (n.*257G>A)
 gnomAD v4 COSMIC COSMIC
16g.27362574G>CCA395297986IL4Rc.1222G>C (p.Glu408Gln)
c.1177G>C (p.Glu393Gln)
c.230-1529G>C (n.230-1529G>C)
c.*1265G>C (n.*1265G>C)
c.742G>C (p.Glu248Gln)
c.331G>C (p.Glu111Gln)
c.271G>C (p.Glu91Gln)
c.955G>C (p.Glu319Gln)
c.925G>C (p.Glu309Gln)
c.799G>C (p.Glu267Gln)
c.*257G>C (n.*257G>C)
16g.27362574G>TCA395297987IL4Rc.1222G>T (p.Glu408Ter)
c.1177G>T (p.Glu393Ter)
c.230-1529G>T (n.230-1529G>T)
c.*1265G>T (n.*1265G>T)
c.742G>T (p.Glu248Ter)
c.331G>T (p.Glu111Ter)
c.271G>T (p.Glu91Ter)
c.955G>T (p.Glu319Ter)
c.925G>T (p.Glu309Ter)
c.799G>T (p.Glu267Ter)
c.*257G>T (n.*257G>T)
 gnomAD v4
16g.27362575A=CA2215169499IL4Rc.1223A= (p.Glu408=)
c.1178A= (p.Glu393=)
c.230-1528A= (n.230-1528A=)
c.*1266A= (n.*1266A=)
c.743A= (p.Glu248=)
c.332A= (p.Glu111=)
c.272A= (p.Glu91=)
c.956A= (p.Glu319=)
c.926A= (p.Glu309=)
c.800A= (p.Glu267=)
c.*258A= (n.*258A=)
16g.27362575A>CCA395297992IL4Rc.1223A>C (p.Glu408Ala)
c.1178A>C (p.Glu393Ala)
c.230-1528A>C (n.230-1528A>C)
c.*1266A>C (n.*1266A>C)
c.743A>C (p.Glu248Ala)
c.332A>C (p.Glu111Ala)
c.272A>C (p.Glu91Ala)
c.956A>C (p.Glu319Ala)
c.926A>C (p.Glu309Ala)
c.800A>C (p.Glu267Ala)
c.*258A>C (n.*258A>C)
16g.27362575A>GCA395297994IL4Rc.1223A>G (p.Glu408Gly)
c.1178A>G (p.Glu393Gly)
c.230-1528A>G (n.230-1528A>G)
c.*1266A>G (n.*1266A>G)
c.743A>G (p.Glu248Gly)
c.332A>G (p.Glu111Gly)
c.272A>G (p.Glu91Gly)
c.956A>G (p.Glu319Gly)
c.926A>G (p.Glu309Gly)
c.800A>G (p.Glu267Gly)
c.*258A>G (n.*258A>G)
 dbSNP
16g.27362575A>TCA395297996IL4Rc.1223A>T (p.Glu408Val)
c.1178A>T (p.Glu393Val)
c.230-1528A>T (n.230-1528A>T)
c.*1266A>T (n.*1266A>T)
c.743A>T (p.Glu248Val)
c.332A>T (p.Glu111Val)
c.272A>T (p.Glu91Val)
c.956A>T (p.Glu319Val)
c.926A>T (p.Glu309Val)
c.800A>T (p.Glu267Val)
c.*258A>T (n.*258A>T)
16g.27362576G>ACA494470379IL4Rc.1224G>A (p.Glu408=)
c.1179G>A (p.Glu393=)
c.230-1527G>A (n.230-1527G>A)
c.*1267G>A (n.*1267G>A)
c.744G>A (p.Glu248=)
c.333G>A (p.Glu111=)
c.273G>A (p.Glu91=)
c.957G>A (p.Glu319=)
c.927G>A (p.Glu309=)
c.801G>A (p.Glu267=)
c.*259G>A (n.*259G>A)
16g.27362576G>CCA7974520IL4Rc.1224G>C (p.Glu408Asp)
c.1179G>C (p.Glu393Asp)
c.230-1527G>C (n.230-1527G>C)
c.*1267G>C (n.*1267G>C)
c.744G>C (p.Glu248Asp)
c.333G>C (p.Glu111Asp)
c.273G>C (p.Glu91Asp)
c.957G>C (p.Glu319Asp)
c.927G>C (p.Glu309Asp)
c.801G>C (p.Glu267Asp)
c.*259G>C (n.*259G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362576G=CA2215169500IL4Rc.1224G= (p.Glu408=)
c.1179G= (p.Glu393=)
c.230-1527G= (n.230-1527G=)
c.*1267G= (n.*1267G=)
c.744G= (p.Glu248=)
c.333G= (p.Glu111=)
c.273G= (p.Glu91=)
c.957G= (p.Glu319=)
c.927G= (p.Glu309=)
c.801G= (p.Glu267=)
c.*259G= (n.*259G=)
16g.27362576G>TCA395298001IL4Rc.1224G>T (p.Glu408Asp)
c.1179G>T (p.Glu393Asp)
c.230-1527G>T (n.230-1527G>T)
c.*1267G>T (n.*1267G>T)
c.744G>T (p.Glu248Asp)
c.333G>T (p.Glu111Asp)
c.273G>T (p.Glu91Asp)
c.957G>T (p.Glu319Asp)
c.927G>T (p.Glu309Asp)
c.801G>T (p.Glu267Asp)
c.*259G>T (n.*259G>T)
16g.27362577A=CA2215169502IL4Rc.1225A= (p.Ser409=)
c.1180A= (p.Ser394=)
c.230-1526A= (n.230-1526A=)
c.*1268A= (n.*1268A=)
c.745A= (p.Ser249=)
c.334A= (p.Ser112=)
c.274A= (p.Ser92=)
c.958A= (p.Ser320=)
c.928A= (p.Ser310=)
c.802A= (p.Ser268=)
c.*260A= (n.*260A=)
16g.27362577A>CCA395298003IL4Rc.1225A>C (p.Ser409Arg)
c.1180A>C (p.Ser394Arg)
c.230-1526A>C (n.230-1526A>C)
c.*1268A>C (n.*1268A>C)
c.745A>C (p.Ser249Arg)
c.334A>C (p.Ser112Arg)
c.274A>C (p.Ser92Arg)
c.958A>C (p.Ser320Arg)
c.928A>C (p.Ser310Arg)
c.802A>C (p.Ser268Arg)
c.*260A>C (n.*260A>C)
16g.27362577A>GCA395298008IL4Rc.1225A>G (p.Ser409Gly)
c.1180A>G (p.Ser394Gly)
c.230-1526A>G (n.230-1526A>G)
c.*1268A>G (n.*1268A>G)
c.745A>G (p.Ser249Gly)
c.334A>G (p.Ser112Gly)
c.274A>G (p.Ser92Gly)
c.958A>G (p.Ser320Gly)
c.928A>G (p.Ser310Gly)
c.802A>G (p.Ser268Gly)
c.*260A>G (n.*260A>G)
 dbSNP
16g.27362577A>TCA395298006IL4Rc.1225A>T (p.Ser409Cys)
c.1180A>T (p.Ser394Cys)
c.230-1526A>T (n.230-1526A>T)
c.*1268A>T (n.*1268A>T)
c.745A>T (p.Ser249Cys)
c.334A>T (p.Ser112Cys)
c.274A>T (p.Ser92Cys)
c.958A>T (p.Ser320Cys)
c.928A>T (p.Ser310Cys)
c.802A>T (p.Ser268Cys)
c.*260A>T (n.*260A>T)
16g.27362578G>ACA395298010IL4Rc.1226G>A (p.Ser409Asn)
c.1181G>A (p.Ser394Asn)
c.230-1525G>A (n.230-1525G>A)
c.*1269G>A (n.*1269G>A)
c.746G>A (p.Ser249Asn)
c.335G>A (p.Ser112Asn)
c.275G>A (p.Ser92Asn)
c.959G>A (p.Ser320Asn)
c.929G>A (p.Ser310Asn)
c.803G>A (p.Ser268Asn)
c.*261G>A (n.*261G>A)
16g.27362578G>CCA395298013IL4Rc.1226G>C (p.Ser409Thr)
c.1181G>C (p.Ser394Thr)
c.230-1525G>C (n.230-1525G>C)
c.*1269G>C (n.*1269G>C)
c.746G>C (p.Ser249Thr)
c.335G>C (p.Ser112Thr)
c.275G>C (p.Ser92Thr)
c.959G>C (p.Ser320Thr)
c.929G>C (p.Ser310Thr)
c.803G>C (p.Ser268Thr)
c.*261G>C (n.*261G>C)
16g.27362578G=CA2215169504IL4Rc.1226G= (p.Ser409=)
c.1181G= (p.Ser394=)
c.230-1525G= (n.230-1525G=)
c.*1269G= (n.*1269G=)
c.746G= (p.Ser249=)
c.335G= (p.Ser112=)
c.275G= (p.Ser92=)
c.959G= (p.Ser320=)
c.929G= (p.Ser310=)
c.803G= (p.Ser268=)
c.*261G= (n.*261G=)
16g.27362578G>TCA279686535IL4Rc.1226G>T (p.Ser409Ile)
c.1181G>T (p.Ser394Ile)
c.230-1525G>T (n.230-1525G>T)
c.*1269G>T (n.*1269G>T)
c.746G>T (p.Ser249Ile)
c.335G>T (p.Ser112Ile)
c.275G>T (p.Ser92Ile)
c.959G>T (p.Ser320Ile)
c.929G>T (p.Ser310Ile)
c.803G>T (p.Ser268Ile)
c.*261G>T (n.*261G>T)
 dbSNP gnomAD v2 gnomAD v4
16g.27362579C>ACA395298017IL4Rc.1227C>A (p.Ser409Arg)
c.1182C>A (p.Ser394Arg)
c.230-1524C>A (n.230-1524C>A)
c.*1270C>A (n.*1270C>A)
c.747C>A (p.Ser249Arg)
c.336C>A (p.Ser112Arg)
c.276C>A (p.Ser92Arg)
c.960C>A (p.Ser320Arg)
c.930C>A (p.Ser310Arg)
c.804C>A (p.Ser268Arg)
c.*262C>A (n.*262C>A)
16g.27362579C>GCA395298019IL4Rc.1227C>G (p.Ser409Arg)
c.1182C>G (p.Ser394Arg)
c.230-1524C>G (n.230-1524C>G)
c.*1270C>G (n.*1270C>G)
c.747C>G (p.Ser249Arg)
c.336C>G (p.Ser112Arg)
c.276C>G (p.Ser92Arg)
c.960C>G (p.Ser320Arg)
c.930C>G (p.Ser310Arg)
c.804C>G (p.Ser268Arg)
c.*262C>G (n.*262C>G)
16g.27362579C>TCA494470383IL4Rc.1227C>T (p.Ser409=)
c.1182C>T (p.Ser394=)
c.230-1524C>T (n.230-1524C>T)
c.*1270C>T (n.*1270C>T)
c.747C>T (p.Ser249=)
c.336C>T (p.Ser112=)
c.276C>T (p.Ser92=)
c.960C>T (p.Ser320=)
c.930C>T (p.Ser310=)
c.804C>T (p.Ser268=)
c.*262C>T (n.*262C>T)
 gnomAD v4
16g.27362580C>ACA395298022IL4Rc.1228C>A (p.Leu410Met)
c.1183C>A (p.Leu395Met)
c.230-1523C>A (n.230-1523C>A)
c.*1271C>A (n.*1271C>A)
c.748C>A (p.Leu250Met)
c.337C>A (p.Leu113Met)
c.277C>A (p.Leu93Met)
c.961C>A (p.Leu321Met)
c.931C>A (p.Leu311Met)
c.805C>A (p.Leu269Met)
c.*263C>A (n.*263C>A)
16g.27362580C>GCA395298024IL4Rc.1228C>G (p.Leu410Val)
c.1183C>G (p.Leu395Val)
c.230-1523C>G (n.230-1523C>G)
c.*1271C>G (n.*1271C>G)
c.748C>G (p.Leu250Val)
c.337C>G (p.Leu113Val)
c.277C>G (p.Leu93Val)
c.961C>G (p.Leu321Val)
c.931C>G (p.Leu311Val)
c.805C>G (p.Leu269Val)
c.*263C>G (n.*263C>G)
16g.27362580C>TCA494470385IL4Rc.1228C>T (p.Leu410=)
c.1183C>T (p.Leu395=)
c.230-1523C>T (n.230-1523C>T)
c.*1271C>T (n.*1271C>T)
c.748C>T (p.Leu250=)
c.337C>T (p.Leu113=)
c.277C>T (p.Leu93=)
c.961C>T (p.Leu321=)
c.931C>T (p.Leu311=)
c.805C>T (p.Leu269=)
c.*263C>T (n.*263C>T)
 gnomAD v4
16g.27362581T>ACA395298027IL4Rc.1229T>A (p.Leu410Gln)
c.1184T>A (p.Leu395Gln)
c.230-1522T>A (n.230-1522T>A)
c.*1272T>A (n.*1272T>A)
c.749T>A (p.Leu250Gln)
c.338T>A (p.Leu113Gln)
c.278T>A (p.Leu93Gln)
c.962T>A (p.Leu321Gln)
c.932T>A (p.Leu311Gln)
c.806T>A (p.Leu269Gln)
c.*264T>A (n.*264T>A)
16g.27362581T>CCA395298029IL4Rc.1229T>C (p.Leu410Pro)
c.1184T>C (p.Leu395Pro)
c.230-1522T>C (n.230-1522T>C)
c.*1272T>C (n.*1272T>C)
c.749T>C (p.Leu250Pro)
c.338T>C (p.Leu113Pro)
c.278T>C (p.Leu93Pro)
c.962T>C (p.Leu321Pro)
c.932T>C (p.Leu311Pro)
c.806T>C (p.Leu269Pro)
c.*264T>C (n.*264T>C)
16g.27362581T>GCA395298030IL4Rc.1229T>G (p.Leu410Arg)
c.1184T>G (p.Leu395Arg)
c.230-1522T>G (n.230-1522T>G)
c.*1272T>G (n.*1272T>G)
c.749T>G (p.Leu250Arg)
c.338T>G (p.Leu113Arg)
c.278T>G (p.Leu93Arg)
c.962T>G (p.Leu321Arg)
c.932T>G (p.Leu311Arg)
c.806T>G (p.Leu269Arg)
c.*264T>G (n.*264T>G)
16g.27362582G>ACA494470388IL4Rc.1230G>A (p.Leu410=)
c.1185G>A (p.Leu395=)
c.230-1521G>A (n.230-1521G>A)
c.*1273G>A (n.*1273G>A)
c.750G>A (p.Leu250=)
c.339G>A (p.Leu113=)
c.279G>A (p.Leu93=)
c.963G>A (p.Leu321=)
c.933G>A (p.Leu311=)
c.807G>A (p.Leu269=)
c.*265G>A (n.*265G>A)
16g.27362582G>CCA494470389IL4Rc.1230G>C (p.Leu410=)
c.1185G>C (p.Leu395=)
c.230-1521G>C (n.230-1521G>C)
c.*1273G>C (n.*1273G>C)
c.750G>C (p.Leu250=)
c.339G>C (p.Leu113=)
c.279G>C (p.Leu93=)
c.963G>C (p.Leu321=)
c.933G>C (p.Leu311=)
c.807G>C (p.Leu269=)
c.*265G>C (n.*265G>C)
16g.27362582G>TCA494470390IL4Rc.1230G>T (p.Leu410=)
c.1185G>T (p.Leu395=)
c.230-1521G>T (n.230-1521G>T)
c.*1273G>T (n.*1273G>T)
c.750G>T (p.Leu250=)
c.339G>T (p.Leu113=)
c.279G>T (p.Leu93=)
c.963G>T (p.Leu321=)
c.933G>T (p.Leu311=)
c.807G>T (p.Leu269=)
c.*265G>T (n.*265G>T)
16g.27362583T>ACA395298033IL4Rc.1231T>A (p.Phe411Ile)
c.1186T>A (p.Phe396Ile)
c.230-1520T>A (n.230-1520T>A)
c.*1274T>A (n.*1274T>A)
c.751T>A (p.Phe251Ile)
c.340T>A (p.Phe114Ile)
c.280T>A (p.Phe94Ile)
c.964T>A (p.Phe322Ile)
c.934T>A (p.Phe312Ile)
c.808T>A (p.Phe270Ile)
c.*266T>A (n.*266T>A)
16g.27362583T>CCA395298035IL4Rc.1231T>C (p.Phe411Leu)
c.1186T>C (p.Phe396Leu)
c.230-1520T>C (n.230-1520T>C)
c.*1274T>C (n.*1274T>C)
c.751T>C (p.Phe251Leu)
c.340T>C (p.Phe114Leu)
c.280T>C (p.Phe94Leu)
c.964T>C (p.Phe322Leu)
c.934T>C (p.Phe312Leu)
c.808T>C (p.Phe270Leu)
c.*266T>C (n.*266T>C)
16g.27362583T>GCA395298037IL4Rc.1231T>G (p.Phe411Val)
c.1186T>G (p.Phe396Val)
c.230-1520T>G (n.230-1520T>G)
c.*1274T>G (n.*1274T>G)
c.751T>G (p.Phe251Val)
c.340T>G (p.Phe114Val)
c.280T>G (p.Phe94Val)
c.964T>G (p.Phe322Val)
c.934T>G (p.Phe312Val)
c.808T>G (p.Phe270Val)
c.*266T>G (n.*266T>G)
16g.27362584T>ACA395298042IL4Rc.1232T>A (p.Phe411Tyr)
c.1187T>A (p.Phe396Tyr)
c.230-1519T>A (n.230-1519T>A)
c.*1275T>A (n.*1275T>A)
c.752T>A (p.Phe251Tyr)
c.341T>A (p.Phe114Tyr)
c.281T>A (p.Phe94Tyr)
c.965T>A (p.Phe322Tyr)
c.935T>A (p.Phe312Tyr)
c.809T>A (p.Phe270Tyr)
c.*267T>A (n.*267T>A)
16g.27362584T>CCA395298045IL4Rc.1232T>C (p.Phe411Ser)
c.1187T>C (p.Phe396Ser)
c.230-1519T>C (n.230-1519T>C)
c.*1275T>C (n.*1275T>C)
c.752T>C (p.Phe251Ser)
c.341T>C (p.Phe114Ser)
c.281T>C (p.Phe94Ser)
c.965T>C (p.Phe322Ser)
c.935T>C (p.Phe312Ser)
c.809T>C (p.Phe270Ser)
c.*267T>C (n.*267T>C)
16g.27362584T>GCA395298040IL4Rc.1232T>G (p.Phe411Cys)
c.1187T>G (p.Phe396Cys)
c.230-1519T>G (n.230-1519T>G)
c.*1275T>G (n.*1275T>G)
c.752T>G (p.Phe251Cys)
c.341T>G (p.Phe114Cys)
c.281T>G (p.Phe94Cys)
c.965T>G (p.Phe322Cys)
c.935T>G (p.Phe312Cys)
c.809T>G (p.Phe270Cys)
c.*267T>G (n.*267T>G)
16g.27362585C>ACA395298047IL4Rc.1233C>A (p.Phe411Leu)
c.1188C>A (p.Phe396Leu)
c.230-1518C>A (n.230-1518C>A)
c.*1276C>A (n.*1276C>A)
c.753C>A (p.Phe251Leu)
c.342C>A (p.Phe114Leu)
c.282C>A (p.Phe94Leu)
c.966C>A (p.Phe322Leu)
c.936C>A (p.Phe312Leu)
c.810C>A (p.Phe270Leu)
c.*268C>A (n.*268C>A)
 gnomAD v3 gnomAD v4
16g.27362585C>GCA395298049IL4Rc.1233C>G (p.Phe411Leu)
c.1188C>G (p.Phe396Leu)
c.230-1518C>G (n.230-1518C>G)
c.*1276C>G (n.*1276C>G)
c.753C>G (p.Phe251Leu)
c.342C>G (p.Phe114Leu)
c.282C>G (p.Phe94Leu)
c.966C>G (p.Phe322Leu)
c.936C>G (p.Phe312Leu)
c.810C>G (p.Phe270Leu)
c.*268C>G (n.*268C>G)
16g.27362585C>TCA494470395IL4Rc.1233C>T (p.Phe411=)
c.1188C>T (p.Phe396=)
c.230-1518C>T (n.230-1518C>T)
c.*1276C>T (n.*1276C>T)
c.753C>T (p.Phe251=)
c.342C>T (p.Phe114=)
c.282C>T (p.Phe94=)
c.966C>T (p.Phe322=)
c.936C>T (p.Phe312=)
c.810C>T (p.Phe270=)
c.*268C>T (n.*268C>T)
16g.27362586delCA2632431245IL4Rc.1234del (p.Leu412TrpfsTer?)
c.1189del (p.Leu397TrpfsTer?)
c.230-1517del (n.230-1517del)
c.*1277del (n.*1277del)
c.754del (p.Leu252TrpfsTer?)
c.343del (p.Leu115TrpfsTer?)
c.283del (p.Leu95TrpfsTer?)
c.967del (p.Leu323TrpfsTer?)
c.937del (p.Leu313TrpfsTer?)
c.811del (p.Leu271TrpfsTer?)
c.*269del (n.*269del)
 gnomAD v4
16g.27362586C>ACA395298052IL4Rc.1234C>A (p.Leu412Met)
c.1189C>A (p.Leu397Met)
c.230-1517C>A (n.230-1517C>A)
c.*1277C>A (n.*1277C>A)
c.754C>A (p.Leu252Met)
c.343C>A (p.Leu115Met)
c.283C>A (p.Leu95Met)
c.967C>A (p.Leu323Met)
c.937C>A (p.Leu313Met)
c.811C>A (p.Leu271Met)
c.*269C>A (n.*269C>A)
16g.27362586C>GCA395298054IL4Rc.1234C>G (p.Leu412Val)
c.1189C>G (p.Leu397Val)
c.230-1517C>G (n.230-1517C>G)
c.*1277C>G (n.*1277C>G)
c.754C>G (p.Leu252Val)
c.343C>G (p.Leu115Val)
c.283C>G (p.Leu95Val)
c.967C>G (p.Leu323Val)
c.937C>G (p.Leu313Val)
c.811C>G (p.Leu271Val)
c.*269C>G (n.*269C>G)
16g.27362586C>TCA494470396IL4Rc.1234C>T (p.Leu412=)
c.1189C>T (p.Leu397=)
c.230-1517C>T (n.230-1517C>T)
c.*1277C>T (n.*1277C>T)
c.754C>T (p.Leu252=)
c.343C>T (p.Leu115=)
c.283C>T (p.Leu95=)
c.967C>T (p.Leu323=)
c.937C>T (p.Leu313=)
c.811C>T (p.Leu271=)
c.*269C>T (n.*269C>T)
16g.27362587T>ACA395298056IL4Rc.1235T>A (p.Leu412Gln)
c.1190T>A (p.Leu397Gln)
c.230-1516T>A (n.230-1516T>A)
c.*1278T>A (n.*1278T>A)
c.755T>A (p.Leu252Gln)
c.344T>A (p.Leu115Gln)
c.284T>A (p.Leu95Gln)
c.968T>A (p.Leu323Gln)
c.938T>A (p.Leu313Gln)
c.812T>A (p.Leu271Gln)
c.*270T>A (n.*270T>A)
16g.27362587T>CCA395298058IL4Rc.1235T>C (p.Leu412Pro)
c.1190T>C (p.Leu397Pro)
c.230-1516T>C (n.230-1516T>C)
c.*1278T>C (n.*1278T>C)
c.755T>C (p.Leu252Pro)
c.344T>C (p.Leu115Pro)
c.284T>C (p.Leu95Pro)
c.968T>C (p.Leu323Pro)
c.938T>C (p.Leu313Pro)
c.812T>C (p.Leu271Pro)
c.*270T>C (n.*270T>C)
 gnomAD v4
16g.27362587T>GCA395298060IL4Rc.1235T>G (p.Leu412Arg)
c.1190T>G (p.Leu397Arg)
c.230-1516T>G (n.230-1516T>G)
c.*1278T>G (n.*1278T>G)
c.755T>G (p.Leu252Arg)
c.344T>G (p.Leu115Arg)
c.284T>G (p.Leu95Arg)
c.968T>G (p.Leu323Arg)
c.938T>G (p.Leu313Arg)
c.812T>G (p.Leu271Arg)
c.*270T>G (n.*270T>G)
16g.27362588G>ACA494470404IL4Rc.1236G>A (p.Leu412=)
c.1191G>A (p.Leu397=)
c.230-1515G>A (n.230-1515G>A)
c.*1279G>A (n.*1279G>A)
c.756G>A (p.Leu252=)
c.345G>A (p.Leu115=)
c.285G>A (p.Leu95=)
c.969G>A (p.Leu323=)
c.939G>A (p.Leu313=)
c.813G>A (p.Leu271=)
c.*271G>A (n.*271G>A)
 dbSNP gnomAD v4
16g.27362588G>CCA494470405IL4Rc.1236G>C (p.Leu412=)
c.1191G>C (p.Leu397=)
c.230-1515G>C (n.230-1515G>C)
c.*1279G>C (n.*1279G>C)
c.756G>C (p.Leu252=)
c.345G>C (p.Leu115=)
c.285G>C (p.Leu95=)
c.969G>C (p.Leu323=)
c.939G>C (p.Leu313=)
c.813G>C (p.Leu271=)
c.*271G>C (n.*271G>C)
16g.27362588G=CA2215169505IL4Rc.1236G= (p.Leu412=)
c.1191G= (p.Leu397=)
c.230-1515G= (n.230-1515G=)
c.*1279G= (n.*1279G=)
c.756G= (p.Leu252=)
c.345G= (p.Leu115=)
c.285G= (p.Leu95=)
c.969G= (p.Leu323=)
c.939G= (p.Leu313=)
c.813G= (p.Leu271=)
c.*271G= (n.*271G=)
16g.27362588G>TCA494470406IL4Rc.1236G>T (p.Leu412=)
c.1191G>T (p.Leu397=)
c.230-1515G>T (n.230-1515G>T)
c.*1279G>T (n.*1279G>T)
c.756G>T (p.Leu252=)
c.345G>T (p.Leu115=)
c.285G>T (p.Leu95=)
c.969G>T (p.Leu323=)
c.939G>T (p.Leu313=)
c.813G>T (p.Leu271=)
c.*271G>T (n.*271G>T)
16g.27362589G>ACA395298063IL4Rc.1237G>A (p.Asp413Asn)
c.1192G>A (p.Asp398Asn)
c.230-1514G>A (n.230-1514G>A)
c.*1280G>A (n.*1280G>A)
c.757G>A (p.Asp253Asn)
c.346G>A (p.Asp116Asn)
c.286G>A (p.Asp96Asn)
c.970G>A (p.Asp324Asn)
c.940G>A (p.Asp314Asn)
c.814G>A (p.Asp272Asn)
c.*272G>A (n.*272G>A)
 gnomAD v4
16g.27362589G>CCA395298065IL4Rc.1237G>C (p.Asp413His)
c.1192G>C (p.Asp398His)
c.230-1514G>C (n.230-1514G>C)
c.*1280G>C (n.*1280G>C)
c.757G>C (p.Asp253His)
c.346G>C (p.Asp116His)
c.286G>C (p.Asp96His)
c.970G>C (p.Asp324His)
c.940G>C (p.Asp314His)
c.814G>C (p.Asp272His)
c.*272G>C (n.*272G>C)
16g.27362589G>TCA395298068IL4Rc.1237G>T (p.Asp413Tyr)
c.1192G>T (p.Asp398Tyr)
c.230-1514G>T (n.230-1514G>T)
c.*1280G>T (n.*1280G>T)
c.757G>T (p.Asp253Tyr)
c.346G>T (p.Asp116Tyr)
c.286G>T (p.Asp96Tyr)
c.970G>T (p.Asp324Tyr)
c.940G>T (p.Asp314Tyr)
c.814G>T (p.Asp272Tyr)
c.*272G>T (n.*272G>T)
 gnomAD v3 gnomAD v4
16g.27362590A>CCA395298071IL4Rc.1238A>C (p.Asp413Ala)
c.1193A>C (p.Asp398Ala)
c.230-1513A>C (n.230-1513A>C)
c.*1281A>C (n.*1281A>C)
c.758A>C (p.Asp253Ala)
c.347A>C (p.Asp116Ala)
c.287A>C (p.Asp96Ala)
c.971A>C (p.Asp324Ala)
c.941A>C (p.Asp314Ala)
c.815A>C (p.Asp272Ala)
c.*273A>C (n.*273A>C)
16g.27362590A>GCA395298073IL4Rc.1238A>G (p.Asp413Gly)
c.1193A>G (p.Asp398Gly)
c.230-1513A>G (n.230-1513A>G)
c.*1281A>G (n.*1281A>G)
c.758A>G (p.Asp253Gly)
c.347A>G (p.Asp116Gly)
c.287A>G (p.Asp96Gly)
c.971A>G (p.Asp324Gly)
c.941A>G (p.Asp314Gly)
c.815A>G (p.Asp272Gly)
c.*273A>G (n.*273A>G)
16g.27362590A>TCA395298075IL4Rc.1238A>T (p.Asp413Val)
c.1193A>T (p.Asp398Val)
c.230-1513A>T (n.230-1513A>T)
c.*1281A>T (n.*1281A>T)
c.758A>T (p.Asp253Val)
c.347A>T (p.Asp116Val)
c.287A>T (p.Asp96Val)
c.971A>T (p.Asp324Val)
c.941A>T (p.Asp314Val)
c.815A>T (p.Asp272Val)
c.*273A>T (n.*273A>T)
16g.27362591C>ACA395298077IL4Rc.1239C>A (p.Asp413Glu)
c.1194C>A (p.Asp398Glu)
c.230-1512C>A (n.230-1512C>A)
c.*1282C>A (n.*1282C>A)
c.759C>A (p.Asp253Glu)
c.348C>A (p.Asp116Glu)
c.288C>A (p.Asp96Glu)
c.972C>A (p.Asp324Glu)
c.942C>A (p.Asp314Glu)
c.816C>A (p.Asp272Glu)
c.*274C>A (n.*274C>A)
16g.27362591C>GCA395298080IL4Rc.1239C>G (p.Asp413Glu)
c.1194C>G (p.Asp398Glu)
c.230-1512C>G (n.230-1512C>G)
c.*1282C>G (n.*1282C>G)
c.759C>G (p.Asp253Glu)
c.348C>G (p.Asp116Glu)
c.288C>G (p.Asp96Glu)
c.972C>G (p.Asp324Glu)
c.942C>G (p.Asp314Glu)
c.816C>G (p.Asp272Glu)
c.*274C>G (n.*274C>G)
16g.27362591C>TCA494470411IL4Rc.1239C>T (p.Asp413=)
c.1194C>T (p.Asp398=)
c.230-1512C>T (n.230-1512C>T)
c.*1282C>T (n.*1282C>T)
c.759C>T (p.Asp253=)
c.348C>T (p.Asp116=)
c.288C>T (p.Asp96=)
c.972C>T (p.Asp324=)
c.942C>T (p.Asp314=)
c.816C>T (p.Asp272=)
c.*274C>T (n.*274C>T)
 gnomAD v4
16g.27362592C>ACA395298081IL4Rc.1240C>A (p.Leu414Met)
c.1195C>A (p.Leu399Met)
c.230-1511C>A (n.230-1511C>A)
c.*1283C>A (n.*1283C>A)
c.760C>A (p.Leu254Met)
c.349C>A (p.Leu117Met)
c.289C>A (p.Leu97Met)
c.973C>A (p.Leu325Met)
c.943C>A (p.Leu315Met)
c.817C>A (p.Leu273Met)
c.*275C>A (n.*275C>A)
16g.27362592C=CA2215169507IL4Rc.1240C= (p.Leu414=)
c.1195C= (p.Leu399=)
c.230-1511C= (n.230-1511C=)
c.*1283C= (n.*1283C=)
c.760C= (p.Leu254=)
c.349C= (p.Leu117=)
c.289C= (p.Leu97=)
c.973C= (p.Leu325=)
c.943C= (p.Leu315=)
c.817C= (p.Leu273=)
c.*275C= (n.*275C=)
16g.27362592C>GCA395298083IL4Rc.1240C>G (p.Leu414Val)
c.1195C>G (p.Leu399Val)
c.230-1511C>G (n.230-1511C>G)
c.*1283C>G (n.*1283C>G)
c.760C>G (p.Leu254Val)
c.349C>G (p.Leu117Val)
c.289C>G (p.Leu97Val)
c.973C>G (p.Leu325Val)
c.943C>G (p.Leu315Val)
c.817C>G (p.Leu273Val)
c.*275C>G (n.*275C>G)
16g.27362592C>TCA494470412IL4Rc.1240C>T (p.Leu414=)
c.1195C>T (p.Leu399=)
c.230-1511C>T (n.230-1511C>T)
c.*1283C>T (n.*1283C>T)
c.760C>T (p.Leu254=)
c.349C>T (p.Leu117=)
c.289C>T (p.Leu97=)
c.973C>T (p.Leu325=)
c.943C>T (p.Leu315=)
c.817C>T (p.Leu273=)
c.*275C>T (n.*275C>T)
 dbSNP
16g.27362594_27362596delCA2632431247IL4Rc.1242_1244del (p.Leu415del)
c.1197_1199del (p.Leu400del)
c.230-1509_230-1507del (n.230-1509_230-1507del)
c.*1285_*1287del (n.*1285_*1287del)
c.762_764del (p.Leu255del)
c.351_353del (p.Leu118del)
c.291_293del (p.Leu98del)
c.975_977del (p.Leu326del)
c.945_947del (p.Leu316del)
c.819_821del (p.Leu274del)
c.*277_*279del (n.*277_*279del)
 dbSNP gnomAD v4
16g.27362593T>ACA395298086IL4Rc.1241T>A (p.Leu414Gln)
c.1196T>A (p.Leu399Gln)
c.230-1510T>A (n.230-1510T>A)
c.*1284T>A (n.*1284T>A)
c.761T>A (p.Leu254Gln)
c.350T>A (p.Leu117Gln)
c.290T>A (p.Leu97Gln)
c.974T>A (p.Leu325Gln)
c.944T>A (p.Leu315Gln)
c.818T>A (p.Leu273Gln)
c.*276T>A (n.*276T>A)
16g.27362593T>CCA395298088IL4Rc.1241T>C (p.Leu414Pro)
c.1196T>C (p.Leu399Pro)
c.230-1510T>C (n.230-1510T>C)
c.*1284T>C (n.*1284T>C)
c.761T>C (p.Leu254Pro)
c.350T>C (p.Leu117Pro)
c.290T>C (p.Leu97Pro)
c.974T>C (p.Leu325Pro)
c.944T>C (p.Leu315Pro)
c.818T>C (p.Leu273Pro)
c.*276T>C (n.*276T>C)
16g.27362593T>GCA395298090IL4Rc.1241T>G (p.Leu414Arg)
c.1196T>G (p.Leu399Arg)
c.230-1510T>G (n.230-1510T>G)
c.*1284T>G (n.*1284T>G)
c.761T>G (p.Leu254Arg)
c.350T>G (p.Leu117Arg)
c.290T>G (p.Leu97Arg)
c.974T>G (p.Leu325Arg)
c.944T>G (p.Leu315Arg)
c.818T>G (p.Leu273Arg)
c.*276T>G (n.*276T>G)
16g.27362594G>ACA494470415IL4Rc.1242G>A (p.Leu414=)
c.1197G>A (p.Leu399=)
c.230-1509G>A (n.230-1509G>A)
c.*1285G>A (n.*1285G>A)
c.762G>A (p.Leu254=)
c.351G>A (p.Leu117=)
c.291G>A (p.Leu97=)
c.975G>A (p.Leu325=)
c.945G>A (p.Leu315=)
c.819G>A (p.Leu273=)
c.*277G>A (n.*277G>A)
16g.27362594G>CCA494470417IL4Rc.1242G>C (p.Leu414=)
c.1197G>C (p.Leu399=)
c.230-1509G>C (n.230-1509G>C)
c.*1285G>C (n.*1285G>C)
c.762G>C (p.Leu254=)
c.351G>C (p.Leu117=)
c.291G>C (p.Leu97=)
c.975G>C (p.Leu325=)
c.945G>C (p.Leu315=)
c.819G>C (p.Leu273=)
c.*277G>C (n.*277G>C)
16g.27362594G=CA2215169509IL4Rc.1242G= (p.Leu414=)
c.1197G= (p.Leu399=)
c.230-1509G= (n.230-1509G=)
c.*1285G= (n.*1285G=)
c.762G= (p.Leu254=)
c.351G= (p.Leu117=)
c.291G= (p.Leu97=)
c.975G= (p.Leu325=)
c.945G= (p.Leu315=)
c.819G= (p.Leu273=)
c.*277G= (n.*277G=)
16g.27362594G>TCA7974521IL4Rc.1242G>T (p.Leu414=)
c.1197G>T (p.Leu399=)
c.230-1509G>T (n.230-1509G>T)
c.*1285G>T (n.*1285G>T)
c.762G>T (p.Leu254=)
c.351G>T (p.Leu117=)
c.291G>T (p.Leu97=)
c.975G>T (p.Leu325=)
c.945G>T (p.Leu315=)
c.819G>T (p.Leu273=)
c.*277G>T (n.*277G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362595C>ACA395298095IL4Rc.1243C>A (p.Leu415Ile)
c.1198C>A (p.Leu400Ile)
c.230-1508C>A (n.230-1508C>A)
c.*1286C>A (n.*1286C>A)
c.763C>A (p.Leu255Ile)
c.352C>A (p.Leu118Ile)
c.292C>A (p.Leu98Ile)
c.976C>A (p.Leu326Ile)
c.946C>A (p.Leu316Ile)
c.820C>A (p.Leu274Ile)
c.*278C>A (n.*278C>A)
16g.27362595C=CA2215169510IL4Rc.1243C= (p.Leu415=)
c.1198C= (p.Leu400=)
c.230-1508C= (n.230-1508C=)
c.*1286C= (n.*1286C=)
c.763C= (p.Leu255=)
c.352C= (p.Leu118=)
c.292C= (p.Leu98=)
c.976C= (p.Leu326=)
c.946C= (p.Leu316=)
c.820C= (p.Leu274=)
c.*278C= (n.*278C=)
16g.27362595C>GCA395298097IL4Rc.1243C>G (p.Leu415Val)
c.1198C>G (p.Leu400Val)
c.230-1508C>G (n.230-1508C>G)
c.*1286C>G (n.*1286C>G)
c.763C>G (p.Leu255Val)
c.352C>G (p.Leu118Val)
c.292C>G (p.Leu98Val)
c.976C>G (p.Leu326Val)
c.946C>G (p.Leu316Val)
c.820C>G (p.Leu274Val)
c.*278C>G (n.*278C>G)
 gnomAD v3 gnomAD v4
16g.27362595C>TCA395298099IL4Rc.1243C>T (p.Leu415Phe)
c.1198C>T (p.Leu400Phe)
c.230-1508C>T (n.230-1508C>T)
c.*1286C>T (n.*1286C>T)
c.763C>T (p.Leu255Phe)
c.352C>T (p.Leu118Phe)
c.292C>T (p.Leu98Phe)
c.976C>T (p.Leu326Phe)
c.946C>T (p.Leu316Phe)
c.820C>T (p.Leu274Phe)
c.*278C>T (n.*278C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.27362596T>ACA395298102IL4Rc.1244T>A (p.Leu415His)
c.1199T>A (p.Leu400His)
c.230-1507T>A (n.230-1507T>A)
c.*1287T>A (n.*1287T>A)
c.764T>A (p.Leu255His)
c.353T>A (p.Leu118His)
c.293T>A (p.Leu98His)
c.977T>A (p.Leu326His)
c.947T>A (p.Leu316His)
c.821T>A (p.Leu274His)
c.*279T>A (n.*279T>A)
16g.27362596T>CCA395298107IL4Rc.1244T>C (p.Leu415Pro)
c.1199T>C (p.Leu400Pro)
c.230-1507T>C (n.230-1507T>C)
c.*1287T>C (n.*1287T>C)
c.764T>C (p.Leu255Pro)
c.353T>C (p.Leu118Pro)
c.293T>C (p.Leu98Pro)
c.977T>C (p.Leu326Pro)
c.947T>C (p.Leu316Pro)
c.821T>C (p.Leu274Pro)
c.*279T>C (n.*279T>C)
16g.27362596T>GCA395298104IL4Rc.1244T>G (p.Leu415Arg)
c.1199T>G (p.Leu400Arg)
c.230-1507T>G (n.230-1507T>G)
c.*1287T>G (n.*1287T>G)
c.764T>G (p.Leu255Arg)
c.353T>G (p.Leu118Arg)
c.293T>G (p.Leu98Arg)
c.977T>G (p.Leu326Arg)
c.947T>G (p.Leu316Arg)
c.821T>G (p.Leu274Arg)
c.*279T>G (n.*279T>G)
16g.27362597C>ACA494470424IL4Rc.1245C>A (p.Leu415=)
c.1200C>A (p.Leu400=)
c.230-1506C>A (n.230-1506C>A)
c.*1288C>A (n.*1288C>A)
c.765C>A (p.Leu255=)
c.354C>A (p.Leu118=)
c.294C>A (p.Leu98=)
c.978C>A (p.Leu326=)
c.948C>A (p.Leu316=)
c.822C>A (p.Leu274=)
c.*280C>A (n.*280C>A)
 dbSNP
16g.27362597C=CA2215169514IL4Rc.1245C= (p.Leu415=)
c.1200C= (p.Leu400=)
c.230-1506C= (n.230-1506C=)
c.*1288C= (n.*1288C=)
c.765C= (p.Leu255=)
c.354C= (p.Leu118=)
c.294C= (p.Leu98=)
c.978C= (p.Leu326=)
c.948C= (p.Leu316=)
c.822C= (p.Leu274=)
c.*280C= (n.*280C=)
16g.27362597C>GCA494470425IL4Rc.1245C>G (p.Leu415=)
c.1200C>G (p.Leu400=)
c.230-1506C>G (n.230-1506C>G)
c.*1288C>G (n.*1288C>G)
c.765C>G (p.Leu255=)
c.354C>G (p.Leu118=)
c.294C>G (p.Leu98=)
c.978C>G (p.Leu326=)
c.948C>G (p.Leu316=)
c.822C>G (p.Leu274=)
c.*280C>G (n.*280C>G)
16g.27362597C>TCA7974522IL4Rc.1245C>T (p.Leu415=)
c.1200C>T (p.Leu400=)
c.230-1506C>T (n.230-1506C>T)
c.*1288C>T (n.*1288C>T)
c.765C>T (p.Leu255=)
c.354C>T (p.Leu118=)
c.294C>T (p.Leu98=)
c.978C>T (p.Leu326=)
c.948C>T (p.Leu316=)
c.822C>T (p.Leu274=)
c.*280C>T (n.*280C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362598G>ACA7974523IL4Rc.1246G>A (p.Gly416Arg)
c.1201G>A (p.Gly401Arg)
c.230-1505G>A (n.230-1505G>A)
c.*1289G>A (n.*1289G>A)
c.766G>A (p.Gly256Arg)
c.355G>A (p.Gly119Arg)
c.295G>A (p.Gly99Arg)
c.979G>A (p.Gly327Arg)
c.949G>A (p.Gly317Arg)
c.823G>A (p.Gly275Arg)
c.*281G>A (n.*281G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362598G>CCA395298114IL4Rc.1246G>C (p.Gly416Arg)
c.1201G>C (p.Gly401Arg)
c.230-1505G>C (n.230-1505G>C)
c.*1289G>C (n.*1289G>C)
c.766G>C (p.Gly256Arg)
c.355G>C (p.Gly119Arg)
c.295G>C (p.Gly99Arg)
c.979G>C (p.Gly327Arg)
c.949G>C (p.Gly317Arg)
c.823G>C (p.Gly275Arg)
c.*281G>C (n.*281G>C)
 dbSNP gnomAD v4
16g.27362598G=CA2215169516IL4Rc.1246G= (p.Gly416=)
c.1201G= (p.Gly401=)
c.230-1505G= (n.230-1505G=)
c.*1289G= (n.*1289G=)
c.766G= (p.Gly256=)
c.355G= (p.Gly119=)
c.295G= (p.Gly99=)
c.979G= (p.Gly327=)
c.949G= (p.Gly317=)
c.823G= (p.Gly275=)
c.*281G= (n.*281G=)
16g.27362598G>TCA395298115IL4Rc.1246G>T (p.Gly416Ter)
c.1201G>T (p.Gly401Ter)
c.230-1505G>T (n.230-1505G>T)
c.*1289G>T (n.*1289G>T)
c.766G>T (p.Gly256Ter)
c.355G>T (p.Gly119Ter)
c.295G>T (p.Gly99Ter)
c.979G>T (p.Gly327Ter)
c.949G>T (p.Gly317Ter)
c.823G>T (p.Gly275Ter)
c.*281G>T (n.*281G>T)
16g.27362599G>ACA7974524IL4Rc.1247G>A (p.Gly416Glu)
c.1202G>A (p.Gly401Glu)
c.230-1504G>A (n.230-1504G>A)
c.*1290G>A (n.*1290G>A)
c.767G>A (p.Gly256Glu)
c.356G>A (p.Gly119Glu)
c.296G>A (p.Gly99Glu)
c.980G>A (p.Gly327Glu)
c.950G>A (p.Gly317Glu)
c.824G>A (p.Gly275Glu)
c.*282G>A (n.*282G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362599G>CCA395298120IL4Rc.1247G>C (p.Gly416Ala)
c.1202G>C (p.Gly401Ala)
c.230-1504G>C (n.230-1504G>C)
c.*1290G>C (n.*1290G>C)
c.767G>C (p.Gly256Ala)
c.356G>C (p.Gly119Ala)
c.296G>C (p.Gly99Ala)
c.980G>C (p.Gly327Ala)
c.950G>C (p.Gly317Ala)
c.824G>C (p.Gly275Ala)
c.*282G>C (n.*282G>C)
16g.27362599G=CA2215169521IL4Rc.1247G= (p.Gly416=)
c.1202G= (p.Gly401=)
c.230-1504G= (n.230-1504G=)
c.*1290G= (n.*1290G=)
c.767G= (p.Gly256=)
c.356G= (p.Gly119=)
c.296G= (p.Gly99=)
c.980G= (p.Gly327=)
c.950G= (p.Gly317=)
c.824G= (p.Gly275=)
c.*282G= (n.*282G=)
16g.27362599G>TCA395298118IL4Rc.1247G>T (p.Gly416Val)
c.1202G>T (p.Gly401Val)
c.230-1504G>T (n.230-1504G>T)
c.*1290G>T (n.*1290G>T)
c.767G>T (p.Gly256Val)
c.356G>T (p.Gly119Val)
c.296G>T (p.Gly99Val)
c.980G>T (p.Gly327Val)
c.950G>T (p.Gly317Val)
c.824G>T (p.Gly275Val)
c.*282G>T (n.*282G>T)
16g.27362600A=CA2215169524IL4Rc.1248A= (p.Gly416=)
c.1203A= (p.Gly401=)
c.230-1503A= (n.230-1503A=)
c.*1291A= (n.*1291A=)
c.768A= (p.Gly256=)
c.357A= (p.Gly119=)
c.297A= (p.Gly99=)
c.981A= (p.Gly327=)
c.951A= (p.Gly317=)
c.825A= (p.Gly275=)
c.*283A= (n.*283A=)
16g.27362600A>CCA494470430IL4Rc.1248A>C (p.Gly416=)
c.1203A>C (p.Gly401=)
c.230-1503A>C (n.230-1503A>C)
c.*1291A>C (n.*1291A>C)
c.768A>C (p.Gly256=)
c.357A>C (p.Gly119=)
c.297A>C (p.Gly99=)
c.981A>C (p.Gly327=)
c.951A>C (p.Gly317=)
c.825A>C (p.Gly275=)
c.*283A>C (n.*283A>C)
16g.27362600A>GCA7974525IL4Rc.1248A>G (p.Gly416=)
c.1203A>G (p.Gly401=)
c.230-1503A>G (n.230-1503A>G)
c.*1291A>G (n.*1291A>G)
c.768A>G (p.Gly256=)
c.357A>G (p.Gly119=)
c.297A>G (p.Gly99=)
c.981A>G (p.Gly327=)
c.951A>G (p.Gly317=)
c.825A>G (p.Gly275=)
c.*283A>G (n.*283A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362600A>TCA494470431IL4Rc.1248A>T (p.Gly416=)
c.1203A>T (p.Gly401=)
c.230-1503A>T (n.230-1503A>T)
c.*1291A>T (n.*1291A>T)
c.768A>T (p.Gly256=)
c.357A>T (p.Gly119=)
c.297A>T (p.Gly99=)
c.981A>T (p.Gly327=)
c.951A>T (p.Gly317=)
c.825A>T (p.Gly275=)
c.*283A>T (n.*283A>T)
16g.27362600_27362603delinsAGAGCA2215169525IL4Rc.1248_1251delinsAGAG (p.Gly416=)
c.1203_1206delinsAGAG (p.Gly401=)
c.230-1503_230-1500delinsAGAG (n.230-1503_230-1500delinsAGAG)
c.*1291_*1294delinsAGAG (n.*1291_*1294delinsAGAG)
c.768_771delinsAGAG (p.Gly256=)
c.357_360delinsAGAG (p.Gly119=)
c.297_300delinsAGAG (p.Gly99=)
c.981_984delinsAGAG (p.Gly327=)
c.951_954delinsAGAG (p.Gly317=)
c.825_828delinsAGAG (p.Gly275=)
c.*283_*286delinsAGAG (n.*283_*286delinsAGAG)
16g.27362601G>ACA395298126IL4Rc.1249G>A (p.Glu417Lys)
c.1204G>A (p.Glu402Lys)
c.230-1502G>A (n.230-1502G>A)
c.*1292G>A (n.*1292G>A)
c.769G>A (p.Glu257Lys)
c.358G>A (p.Glu120Lys)
c.298G>A (p.Glu100Lys)
c.982G>A (p.Glu328Lys)
c.952G>A (p.Glu318Lys)
c.826G>A (p.Glu276Lys)
c.*284G>A (n.*284G>A)
16g.27362601G>CCA395298128IL4Rc.1249G>C (p.Glu417Gln)
c.1204G>C (p.Glu402Gln)
c.230-1502G>C (n.230-1502G>C)
c.*1292G>C (n.*1292G>C)
c.769G>C (p.Glu257Gln)
c.358G>C (p.Glu120Gln)
c.298G>C (p.Glu100Gln)
c.982G>C (p.Glu328Gln)
c.952G>C (p.Glu318Gln)
c.826G>C (p.Glu276Gln)
c.*284G>C (n.*284G>C)
16g.27362601G>TCA395298130IL4Rc.1249G>T (p.Glu417Ter)
c.1204G>T (p.Glu402Ter)
c.230-1502G>T (n.230-1502G>T)
c.*1292G>T (n.*1292G>T)
c.769G>T (p.Glu257Ter)
c.358G>T (p.Glu120Ter)
c.298G>T (p.Glu100Ter)
c.982G>T (p.Glu328Ter)
c.952G>T (p.Glu318Ter)
c.826G>T (p.Glu276Ter)
c.*284G>T (n.*284G>T)
16g.27362604_27362606delCA2215169527IL4Rc.1252_1254del (p.Glu418del)
c.1207_1209del (p.Glu403del)
c.230-1499_230-1497del (n.230-1499_230-1497del)
c.*1295_*1297del (n.*1295_*1297del)
c.772_774del (p.Glu258del)
c.361_363del (p.Glu121del)
c.301_303del (p.Glu101del)
c.985_987del (p.Glu329del)
c.955_957del (p.Glu319del)
c.829_831del (p.Glu277del)
c.*287_*289del (n.*287_*289del)
 dbSNP gnomAD v3 gnomAD v4
16g.27362602A>CCA395298133IL4Rc.1250A>C (p.Glu417Ala)
c.1205A>C (p.Glu402Ala)
c.230-1501A>C (n.230-1501A>C)
c.*1293A>C (n.*1293A>C)
c.770A>C (p.Glu257Ala)
c.359A>C (p.Glu120Ala)
c.299A>C (p.Glu100Ala)
c.983A>C (p.Glu328Ala)
c.953A>C (p.Glu318Ala)
c.827A>C (p.Glu276Ala)
c.*285A>C (n.*285A>C)
16g.27362602A>GCA395298135IL4Rc.1250A>G (p.Glu417Gly)
c.1205A>G (p.Glu402Gly)
c.230-1501A>G (n.230-1501A>G)
c.*1293A>G (n.*1293A>G)
c.770A>G (p.Glu257Gly)
c.359A>G (p.Glu120Gly)
c.299A>G (p.Glu100Gly)
c.983A>G (p.Glu328Gly)
c.953A>G (p.Glu318Gly)
c.827A>G (p.Glu276Gly)
c.*285A>G (n.*285A>G)
16g.27362602A>TCA395298137IL4Rc.1250A>T (p.Glu417Val)
c.1205A>T (p.Glu402Val)
c.230-1501A>T (n.230-1501A>T)
c.*1293A>T (n.*1293A>T)
c.770A>T (p.Glu257Val)
c.359A>T (p.Glu120Val)
c.299A>T (p.Glu100Val)
c.983A>T (p.Glu328Val)
c.953A>T (p.Glu318Val)
c.827A>T (p.Glu276Val)
c.*285A>T (n.*285A>T)
16g.27362603G>ACA494470435IL4Rc.1251G>A (p.Glu417=)
c.1206G>A (p.Glu402=)
c.230-1500G>A (n.230-1500G>A)
c.*1294G>A (n.*1294G>A)
c.771G>A (p.Glu257=)
c.360G>A (p.Glu120=)
c.300G>A (p.Glu100=)
c.984G>A (p.Glu328=)
c.954G>A (p.Glu318=)
c.828G>A (p.Glu276=)
c.*286G>A (n.*286G>A)
 gnomAD v4
16g.27362603G>CCA395298139IL4Rc.1251G>C (p.Glu417Asp)
c.1206G>C (p.Glu402Asp)
c.230-1500G>C (n.230-1500G>C)
c.*1294G>C (n.*1294G>C)
c.771G>C (p.Glu257Asp)
c.360G>C (p.Glu120Asp)
c.300G>C (p.Glu100Asp)
c.984G>C (p.Glu328Asp)
c.954G>C (p.Glu318Asp)
c.828G>C (p.Glu276Asp)
c.*286G>C (n.*286G>C)
16g.27362603G>TCA395298141IL4Rc.1251G>T (p.Glu417Asp)
c.1206G>T (p.Glu402Asp)
c.230-1500G>T (n.230-1500G>T)
c.*1294G>T (n.*1294G>T)
c.771G>T (p.Glu257Asp)
c.360G>T (p.Glu120Asp)
c.300G>T (p.Glu100Asp)
c.984G>T (p.Glu328Asp)
c.954G>T (p.Glu318Asp)
c.828G>T (p.Glu276Asp)
c.*286G>T (n.*286G>T)
16g.27362604G>ACA395298143IL4Rc.1252G>A (p.Glu418Lys)
c.1207G>A (p.Glu403Lys)
c.230-1499G>A (n.230-1499G>A)
c.*1295G>A (n.*1295G>A)
c.772G>A (p.Glu258Lys)
c.361G>A (p.Glu121Lys)
c.301G>A (p.Glu101Lys)
c.985G>A (p.Glu329Lys)
c.955G>A (p.Glu319Lys)
c.829G>A (p.Glu277Lys)
c.*287G>A (n.*287G>A)
 gnomAD v4 COSMIC
16g.27362604G>CCA395298145IL4Rc.1252G>C (p.Glu418Gln)
c.1207G>C (p.Glu403Gln)
c.230-1499G>C (n.230-1499G>C)
c.*1295G>C (n.*1295G>C)
c.772G>C (p.Glu258Gln)
c.361G>C (p.Glu121Gln)
c.301G>C (p.Glu101Gln)
c.985G>C (p.Glu329Gln)
c.955G>C (p.Glu319Gln)
c.829G>C (p.Glu277Gln)
c.*287G>C (n.*287G>C)
 dbSNP gnomAD v3 gnomAD v4
16g.27362604G=CA2215169528IL4Rc.1252G= (p.Glu418=)
c.1207G= (p.Glu403=)
c.230-1499G= (n.230-1499G=)
c.*1295G= (n.*1295G=)
c.772G= (p.Glu258=)
c.361G= (p.Glu121=)
c.301G= (p.Glu101=)
c.985G= (p.Glu329=)
c.955G= (p.Glu319=)
c.829G= (p.Glu277=)
c.*287G= (n.*287G=)
16g.27362604G>TCA395298147IL4Rc.1252G>T (p.Glu418Ter)
c.1207G>T (p.Glu403Ter)
c.230-1499G>T (n.230-1499G>T)
c.*1295G>T (n.*1295G>T)
c.772G>T (p.Glu258Ter)
c.361G>T (p.Glu121Ter)
c.301G>T (p.Glu101Ter)
c.985G>T (p.Glu329Ter)
c.955G>T (p.Glu319Ter)
c.829G>T (p.Glu277Ter)
c.*287G>T (n.*287G>T)
 gnomAD v4
16g.27362605A>CCA395298151IL4Rc.1253A>C (p.Glu418Ala)
c.1208A>C (p.Glu403Ala)
c.230-1498A>C (n.230-1498A>C)
c.*1296A>C (n.*1296A>C)
c.773A>C (p.Glu258Ala)
c.362A>C (p.Glu121Ala)
c.302A>C (p.Glu101Ala)
c.986A>C (p.Glu329Ala)
c.956A>C (p.Glu319Ala)
c.830A>C (p.Glu277Ala)
c.*288A>C (n.*288A>C)
16g.27362605A>GCA395298154IL4Rc.1253A>G (p.Glu418Gly)
c.1208A>G (p.Glu403Gly)
c.230-1498A>G (n.230-1498A>G)
c.*1296A>G (n.*1296A>G)
c.773A>G (p.Glu258Gly)
c.362A>G (p.Glu121Gly)
c.302A>G (p.Glu101Gly)
c.986A>G (p.Glu329Gly)
c.956A>G (p.Glu319Gly)
c.830A>G (p.Glu277Gly)
c.*288A>G (n.*288A>G)
16g.27362605A>TCA395298150IL4Rc.1253A>T (p.Glu418Val)
c.1208A>T (p.Glu403Val)
c.230-1498A>T (n.230-1498A>T)
c.*1296A>T (n.*1296A>T)
c.773A>T (p.Glu258Val)
c.362A>T (p.Glu121Val)
c.302A>T (p.Glu101Val)
c.986A>T (p.Glu329Val)
c.956A>T (p.Glu319Val)
c.830A>T (p.Glu277Val)
c.*288A>T (n.*288A>T)
16g.27362606G>ACA494470440IL4Rc.1254G>A (p.Glu418=)
c.1209G>A (p.Glu403=)
c.230-1497G>A (n.230-1497G>A)
c.*1297G>A (n.*1297G>A)
c.774G>A (p.Glu258=)
c.363G>A (p.Glu121=)
c.303G>A (p.Glu101=)
c.987G>A (p.Glu329=)
c.957G>A (p.Glu319=)
c.831G>A (p.Glu277=)
c.*289G>A (n.*289G>A)
 gnomAD v4
16g.27362606G>CCA395298156IL4Rc.1254G>C (p.Glu418Asp)
c.1209G>C (p.Glu403Asp)
c.230-1497G>C (n.230-1497G>C)
c.*1297G>C (n.*1297G>C)
c.774G>C (p.Glu258Asp)
c.363G>C (p.Glu121Asp)
c.303G>C (p.Glu101Asp)
c.987G>C (p.Glu329Asp)
c.957G>C (p.Glu319Asp)
c.831G>C (p.Glu277Asp)
c.*289G>C (n.*289G>C)
16g.27362606G>TCA395298158IL4Rc.1254G>T (p.Glu418Asp)
c.1209G>T (p.Glu403Asp)
c.230-1497G>T (n.230-1497G>T)
c.*1297G>T (n.*1297G>T)
c.774G>T (p.Glu258Asp)
c.363G>T (p.Glu121Asp)
c.303G>T (p.Glu101Asp)
c.987G>T (p.Glu329Asp)
c.957G>T (p.Glu319Asp)
c.831G>T (p.Glu277Asp)
c.*289G>T (n.*289G>T)
16g.27362607A>CCA395298162IL4Rc.1255A>C (p.Asn419His)
c.1210A>C (p.Asn404His)
c.230-1496A>C (n.230-1496A>C)
c.*1298A>C (n.*1298A>C)
c.775A>C (p.Asn259His)
c.364A>C (p.Asn122His)
c.304A>C (p.Asn102His)
c.988A>C (p.Asn330His)
c.958A>C (p.Asn320His)
c.832A>C (p.Asn278His)
c.*290A>C (n.*290A>C)
16g.27362607A>GCA395298164IL4Rc.1255A>G (p.Asn419Asp)
c.1210A>G (p.Asn404Asp)
c.230-1496A>G (n.230-1496A>G)
c.*1298A>G (n.*1298A>G)
c.775A>G (p.Asn259Asp)
c.364A>G (p.Asn122Asp)
c.304A>G (p.Asn102Asp)
c.988A>G (p.Asn330Asp)
c.958A>G (p.Asn320Asp)
c.832A>G (p.Asn278Asp)
c.*290A>G (n.*290A>G)
16g.27362607A>TCA395298166IL4Rc.1255A>T (p.Asn419Tyr)
c.1210A>T (p.Asn404Tyr)
c.230-1496A>T (n.230-1496A>T)
c.*1298A>T (n.*1298A>T)
c.775A>T (p.Asn259Tyr)
c.364A>T (p.Asn122Tyr)
c.304A>T (p.Asn102Tyr)
c.988A>T (p.Asn330Tyr)
c.958A>T (p.Asn320Tyr)
c.832A>T (p.Asn278Tyr)
c.*290A>T (n.*290A>T)
16g.27362608A>CCA395298174IL4Rc.1256A>C (p.Asn419Thr)
c.1211A>C (p.Asn404Thr)
c.230-1495A>C (n.230-1495A>C)
c.*1299A>C (n.*1299A>C)
c.776A>C (p.Asn259Thr)
c.365A>C (p.Asn122Thr)
c.305A>C (p.Asn102Thr)
c.989A>C (p.Asn330Thr)
c.959A>C (p.Asn320Thr)
c.833A>C (p.Asn278Thr)
c.*291A>C (n.*291A>C)
16g.27362608A>GCA395298169IL4Rc.1256A>G (p.Asn419Ser)
c.1211A>G (p.Asn404Ser)
c.230-1495A>G (n.230-1495A>G)
c.*1299A>G (n.*1299A>G)
c.776A>G (p.Asn259Ser)
c.365A>G (p.Asn122Ser)
c.305A>G (p.Asn102Ser)
c.989A>G (p.Asn330Ser)
c.959A>G (p.Asn320Ser)
c.833A>G (p.Asn278Ser)
c.*291A>G (n.*291A>G)
16g.27362608A>TCA395298171IL4Rc.1256A>T (p.Asn419Ile)
c.1211A>T (p.Asn404Ile)
c.230-1495A>T (n.230-1495A>T)
c.*1299A>T (n.*1299A>T)
c.776A>T (p.Asn259Ile)
c.365A>T (p.Asn122Ile)
c.305A>T (p.Asn102Ile)
c.989A>T (p.Asn330Ile)
c.959A>T (p.Asn320Ile)
c.833A>T (p.Asn278Ile)
c.*291A>T (n.*291A>T)
16g.27362609T>ACA395298176IL4Rc.1257T>A (p.Asn419Lys)
c.1212T>A (p.Asn404Lys)
c.230-1494T>A (n.230-1494T>A)
c.*1300T>A (n.*1300T>A)
c.777T>A (p.Asn259Lys)
c.366T>A (p.Asn122Lys)
c.306T>A (p.Asn102Lys)
c.990T>A (p.Asn330Lys)
c.960T>A (p.Asn320Lys)
c.834T>A (p.Asn278Lys)
c.*292T>A (n.*292T>A)
16g.27362609T>CCA494470442IL4Rc.1257T>C (p.Asn419=)
c.1212T>C (p.Asn404=)
c.230-1494T>C (n.230-1494T>C)
c.*1300T>C (n.*1300T>C)
c.777T>C (p.Asn259=)
c.366T>C (p.Asn122=)
c.306T>C (p.Asn102=)
c.990T>C (p.Asn330=)
c.960T>C (p.Asn320=)
c.834T>C (p.Asn278=)
c.*292T>C (n.*292T>C)
16g.27362609T>GCA395298178IL4Rc.1257T>G (p.Asn419Lys)
c.1212T>G (p.Asn404Lys)
c.230-1494T>G (n.230-1494T>G)
c.*1300T>G (n.*1300T>G)
c.777T>G (p.Asn259Lys)
c.366T>G (p.Asn122Lys)
c.306T>G (p.Asn102Lys)
c.990T>G (p.Asn330Lys)
c.960T>G (p.Asn320Lys)
c.834T>G (p.Asn278Lys)
c.*292T>G (n.*292T>G)
16g.27362610G>ACA395298181IL4Rc.1258G>A (p.Gly420Arg)
c.1213G>A (p.Gly405Arg)
c.230-1493G>A (n.230-1493G>A)
c.*1301G>A (n.*1301G>A)
c.778G>A (p.Gly260Arg)
c.367G>A (p.Gly123Arg)
c.307G>A (p.Gly103Arg)
c.991G>A (p.Gly331Arg)
c.961G>A (p.Gly321Arg)
c.835G>A (p.Gly279Arg)
c.*293G>A (n.*293G>A)
16g.27362610G>CCA395298183IL4Rc.1258G>C (p.Gly420Arg)
c.1213G>C (p.Gly405Arg)
c.230-1493G>C (n.230-1493G>C)
c.*1301G>C (n.*1301G>C)
c.778G>C (p.Gly260Arg)
c.367G>C (p.Gly123Arg)
c.307G>C (p.Gly103Arg)
c.991G>C (p.Gly331Arg)
c.961G>C (p.Gly321Arg)
c.835G>C (p.Gly279Arg)
c.*293G>C (n.*293G>C)
 dbSNP COSMIC
16g.27362610G=CA2215169529IL4Rc.1258G= (p.Gly420=)
c.1213G= (p.Gly405=)
c.230-1493G= (n.230-1493G=)
c.*1301G= (n.*1301G=)
c.778G= (p.Gly260=)
c.367G= (p.Gly123=)
c.307G= (p.Gly103=)
c.991G= (p.Gly331=)
c.961G= (p.Gly321=)
c.835G= (p.Gly279=)
c.*293G= (n.*293G=)
16g.27362610G>TCA395298185IL4Rc.1258G>T (p.Gly420Trp)
c.1213G>T (p.Gly405Trp)
c.230-1493G>T (n.230-1493G>T)
c.*1301G>T (n.*1301G>T)
c.778G>T (p.Gly260Trp)
c.367G>T (p.Gly123Trp)
c.307G>T (p.Gly103Trp)
c.991G>T (p.Gly331Trp)
c.961G>T (p.Gly321Trp)
c.835G>T (p.Gly279Trp)
c.*293G>T (n.*293G>T)
16g.27362614delCA2632431249IL4Rc.1262del (p.Gly421AlafsTer?)
c.1217del (p.Gly406AlafsTer?)
c.230-1489del (n.230-1489del)
c.*1305del (n.*1305del)
c.782del (p.Gly261AlafsTer?)
c.371del (p.Gly124AlafsTer?)
c.311del (p.Gly104AlafsTer?)
c.995del (p.Gly332AlafsTer?)
c.965del (p.Gly322AlafsTer?)
c.839del (p.Gly280AlafsTer?)
c.*297del (n.*297del)
 gnomAD v4
16g.27362611G>ACA395298189IL4Rc.1259G>A (p.Gly420Glu)
c.1214G>A (p.Gly405Glu)
c.230-1492G>A (n.230-1492G>A)
c.*1302G>A (n.*1302G>A)
c.779G>A (p.Gly260Glu)
c.368G>A (p.Gly123Glu)
c.308G>A (p.Gly103Glu)
c.992G>A (p.Gly331Glu)
c.962G>A (p.Gly321Glu)
c.836G>A (p.Gly279Glu)
c.*294G>A (n.*294G>A)
16g.27362611G>CCA395298192IL4Rc.1259G>C (p.Gly420Ala)
c.1214G>C (p.Gly405Ala)
c.230-1492G>C (n.230-1492G>C)
c.*1302G>C (n.*1302G>C)
c.779G>C (p.Gly260Ala)
c.368G>C (p.Gly123Ala)
c.308G>C (p.Gly103Ala)
c.992G>C (p.Gly331Ala)
c.962G>C (p.Gly321Ala)
c.836G>C (p.Gly279Ala)
c.*294G>C (n.*294G>C)
16g.27362611G>TCA395298190IL4Rc.1259G>T (p.Gly420Val)
c.1214G>T (p.Gly405Val)
c.230-1492G>T (n.230-1492G>T)
c.*1302G>T (n.*1302G>T)
c.779G>T (p.Gly260Val)
c.368G>T (p.Gly123Val)
c.308G>T (p.Gly103Val)
c.992G>T (p.Gly331Val)
c.962G>T (p.Gly321Val)
c.836G>T (p.Gly279Val)
c.*294G>T (n.*294G>T)
16g.27362612G>ACA494470450IL4Rc.1260G>A (p.Gly420=)
c.1215G>A (p.Gly405=)
c.230-1491G>A (n.230-1491G>A)
c.*1303G>A (n.*1303G>A)
c.780G>A (p.Gly260=)
c.369G>A (p.Gly123=)
c.309G>A (p.Gly103=)
c.993G>A (p.Gly331=)
c.963G>A (p.Gly321=)
c.837G>A (p.Gly279=)
c.*295G>A (n.*295G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.27362612G>CCA494470444IL4Rc.1260G>C (p.Gly420=)
c.1215G>C (p.Gly405=)
c.230-1491G>C (n.230-1491G>C)
c.*1303G>C (n.*1303G>C)
c.780G>C (p.Gly260=)
c.369G>C (p.Gly123=)
c.309G>C (p.Gly103=)
c.993G>C (p.Gly331=)
c.963G>C (p.Gly321=)
c.837G>C (p.Gly279=)
c.*295G>C (n.*295G>C)
16g.27362612G=CA2215169532IL4Rc.1260G= (p.Gly420=)
c.1215G= (p.Gly405=)
c.230-1491G= (n.230-1491G=)
c.*1303G= (n.*1303G=)
c.780G= (p.Gly260=)
c.369G= (p.Gly123=)
c.309G= (p.Gly103=)
c.993G= (p.Gly331=)
c.963G= (p.Gly321=)
c.837G= (p.Gly279=)
c.*295G= (n.*295G=)
16g.27362612G>TCA7974526IL4Rc.1260G>T (p.Gly420=)
c.1215G>T (p.Gly405=)
c.230-1491G>T (n.230-1491G>T)
c.*1303G>T (n.*1303G>T)
c.780G>T (p.Gly260=)
c.369G>T (p.Gly123=)
c.309G>T (p.Gly103=)
c.993G>T (p.Gly331=)
c.963G>T (p.Gly321=)
c.837G>T (p.Gly279=)
c.*295G>T (n.*295G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362613G>ACA395298200IL4Rc.1261G>A (p.Gly421Ser)
c.1216G>A (p.Gly406Ser)
c.230-1490G>A (n.230-1490G>A)
c.*1304G>A (n.*1304G>A)
c.781G>A (p.Gly261Ser)
c.370G>A (p.Gly124Ser)
c.310G>A (p.Gly104Ser)
c.994G>A (p.Gly332Ser)
c.964G>A (p.Gly322Ser)
c.838G>A (p.Gly280Ser)
c.*296G>A (n.*296G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.27362613G>CCA395298196IL4Rc.1261G>C (p.Gly421Arg)
c.1216G>C (p.Gly406Arg)
c.230-1490G>C (n.230-1490G>C)
c.*1304G>C (n.*1304G>C)
c.781G>C (p.Gly261Arg)
c.370G>C (p.Gly124Arg)
c.310G>C (p.Gly104Arg)
c.994G>C (p.Gly332Arg)
c.964G>C (p.Gly322Arg)
c.838G>C (p.Gly280Arg)
c.*296G>C (n.*296G>C)
16g.27362613G=CA2215169535IL4Rc.1261G= (p.Gly421=)
c.1216G= (p.Gly406=)
c.230-1490G= (n.230-1490G=)
c.*1304G= (n.*1304G=)
c.781G= (p.Gly261=)
c.370G= (p.Gly124=)
c.310G= (p.Gly104=)
c.994G= (p.Gly332=)
c.964G= (p.Gly322=)
c.838G= (p.Gly280=)
c.*296G= (n.*296G=)
16g.27362613G>TCA395298197IL4Rc.1261G>T (p.Gly421Cys)
c.1216G>T (p.Gly406Cys)
c.230-1490G>T (n.230-1490G>T)
c.*1304G>T (n.*1304G>T)
c.781G>T (p.Gly261Cys)
c.370G>T (p.Gly124Cys)
c.310G>T (p.Gly104Cys)
c.994G>T (p.Gly332Cys)
c.964G>T (p.Gly322Cys)
c.838G>T (p.Gly280Cys)
c.*296G>T (n.*296G>T)
16g.27362614G>ACA395298202IL4Rc.1262G>A (p.Gly421Asp)
c.1217G>A (p.Gly406Asp)
c.230-1489G>A (n.230-1489G>A)
c.*1305G>A (n.*1305G>A)
c.782G>A (p.Gly261Asp)
c.371G>A (p.Gly124Asp)
c.311G>A (p.Gly104Asp)
c.995G>A (p.Gly332Asp)
c.965G>A (p.Gly322Asp)
c.839G>A (p.Gly280Asp)
c.*297G>A (n.*297G>A)
16g.27362614G>CCA395298204IL4Rc.1262G>C (p.Gly421Ala)
c.1217G>C (p.Gly406Ala)
c.230-1489G>C (n.230-1489G>C)
c.*1305G>C (n.*1305G>C)
c.782G>C (p.Gly261Ala)
c.371G>C (p.Gly124Ala)
c.311G>C (p.Gly104Ala)
c.995G>C (p.Gly332Ala)
c.965G>C (p.Gly322Ala)
c.839G>C (p.Gly280Ala)
c.*297G>C (n.*297G>C)
16g.27362614G>TCA395298206IL4Rc.1262G>T (p.Gly421Val)
c.1217G>T (p.Gly406Val)
c.230-1489G>T (n.230-1489G>T)
c.*1305G>T (n.*1305G>T)
c.782G>T (p.Gly261Val)
c.371G>T (p.Gly124Val)
c.311G>T (p.Gly104Val)
c.995G>T (p.Gly332Val)
c.965G>T (p.Gly322Val)
c.839G>T (p.Gly280Val)
c.*297G>T (n.*297G>T)
16g.27362615C>ACA494470455IL4Rc.1263C>A (p.Gly421=)
c.1218C>A (p.Gly406=)
c.230-1488C>A (n.230-1488C>A)
c.*1306C>A (n.*1306C>A)
c.783C>A (p.Gly261=)
c.372C>A (p.Gly124=)
c.312C>A (p.Gly104=)
c.996C>A (p.Gly332=)
c.966C>A (p.Gly322=)
c.840C>A (p.Gly280=)
c.*298C>A (n.*298C>A)
16g.27362615C>GCA494470456IL4Rc.1263C>G (p.Gly421=)
c.1218C>G (p.Gly406=)
c.230-1488C>G (n.230-1488C>G)
c.*1306C>G (n.*1306C>G)
c.783C>G (p.Gly261=)
c.372C>G (p.Gly124=)
c.312C>G (p.Gly104=)
c.996C>G (p.Gly332=)
c.966C>G (p.Gly322=)
c.840C>G (p.Gly280=)
c.*298C>G (n.*298C>G)
16g.27362615C>TCA494470457IL4Rc.1263C>T (p.Gly421=)
c.1218C>T (p.Gly406=)
c.230-1488C>T (n.230-1488C>T)
c.*1306C>T (n.*1306C>T)
c.783C>T (p.Gly261=)
c.372C>T (p.Gly124=)
c.312C>T (p.Gly104=)
c.996C>T (p.Gly332=)
c.966C>T (p.Gly322=)
c.840C>T (p.Gly280=)
c.*298C>T (n.*298C>T)
16g.27362616T>ACA395298208IL4Rc.1264T>A (p.Phe422Ile)
c.1219T>A (p.Phe407Ile)
c.230-1487T>A (n.230-1487T>A)
c.*1307T>A (n.*1307T>A)
c.784T>A (p.Phe262Ile)
c.373T>A (p.Phe125Ile)
c.313T>A (p.Phe105Ile)
c.997T>A (p.Phe333Ile)
c.967T>A (p.Phe323Ile)
c.841T>A (p.Phe281Ile)
c.*299T>A (n.*299T>A)
16g.27362616T>CCA395298210IL4Rc.1264T>C (p.Phe422Leu)
c.1219T>C (p.Phe407Leu)
c.230-1487T>C (n.230-1487T>C)
c.*1307T>C (n.*1307T>C)
c.784T>C (p.Phe262Leu)
c.373T>C (p.Phe125Leu)
c.313T>C (p.Phe105Leu)
c.997T>C (p.Phe333Leu)
c.967T>C (p.Phe323Leu)
c.841T>C (p.Phe281Leu)
c.*299T>C (n.*299T>C)
16g.27362616T>GCA395298212IL4Rc.1264T>G (p.Phe422Val)
c.1219T>G (p.Phe407Val)
c.230-1487T>G (n.230-1487T>G)
c.*1307T>G (n.*1307T>G)
c.784T>G (p.Phe262Val)
c.373T>G (p.Phe125Val)
c.313T>G (p.Phe105Val)
c.997T>G (p.Phe333Val)
c.967T>G (p.Phe323Val)
c.841T>G (p.Phe281Val)
c.*299T>G (n.*299T>G)
16g.27362617T>ACA395298215IL4Rc.1265T>A (p.Phe422Tyr)
c.1220T>A (p.Phe407Tyr)
c.230-1486T>A (n.230-1486T>A)
c.*1308T>A (n.*1308T>A)
c.785T>A (p.Phe262Tyr)
c.374T>A (p.Phe125Tyr)
c.314T>A (p.Phe105Tyr)
c.998T>A (p.Phe333Tyr)
c.968T>A (p.Phe323Tyr)
c.842T>A (p.Phe281Tyr)
c.*300T>A (n.*300T>A)
16g.27362617T>CCA395298216IL4Rc.1265T>C (p.Phe422Ser)
c.1220T>C (p.Phe407Ser)
c.230-1486T>C (n.230-1486T>C)
c.*1308T>C (n.*1308T>C)
c.785T>C (p.Phe262Ser)
c.374T>C (p.Phe125Ser)
c.314T>C (p.Phe105Ser)
c.998T>C (p.Phe333Ser)
c.968T>C (p.Phe323Ser)
c.842T>C (p.Phe281Ser)
c.*300T>C (n.*300T>C)
16g.27362617T>GCA395298218IL4Rc.1265T>G (p.Phe422Cys)
c.1220T>G (p.Phe407Cys)
c.230-1486T>G (n.230-1486T>G)
c.*1308T>G (n.*1308T>G)
c.785T>G (p.Phe262Cys)
c.374T>G (p.Phe125Cys)
c.314T>G (p.Phe105Cys)
c.998T>G (p.Phe333Cys)
c.968T>G (p.Phe323Cys)
c.842T>G (p.Phe281Cys)
c.*300T>G (n.*300T>G)
16g.27362618T>ACA395298221IL4Rc.1266T>A (p.Phe422Leu)
c.1221T>A (p.Phe407Leu)
c.230-1485T>A (n.230-1485T>A)
c.*1309T>A (n.*1309T>A)
c.786T>A (p.Phe262Leu)
c.375T>A (p.Phe125Leu)
c.315T>A (p.Phe105Leu)
c.999T>A (p.Phe333Leu)
c.969T>A (p.Phe323Leu)
c.843T>A (p.Phe281Leu)
c.*301T>A (n.*301T>A)
16g.27362618T>CCA494470462IL4Rc.1266T>C (p.Phe422=)
c.1221T>C (p.Phe407=)
c.230-1485T>C (n.230-1485T>C)
c.*1309T>C (n.*1309T>C)
c.786T>C (p.Phe262=)
c.375T>C (p.Phe125=)
c.315T>C (p.Phe105=)
c.999T>C (p.Phe333=)
c.969T>C (p.Phe323=)
c.843T>C (p.Phe281=)
c.*301T>C (n.*301T>C)
16g.27362618T>GCA395298222IL4Rc.1266T>G (p.Phe422Leu)
c.1221T>G (p.Phe407Leu)
c.230-1485T>G (n.230-1485T>G)
c.*1309T>G (n.*1309T>G)
c.786T>G (p.Phe262Leu)
c.375T>G (p.Phe125Leu)
c.315T>G (p.Phe105Leu)
c.999T>G (p.Phe333Leu)
c.969T>G (p.Phe323Leu)
c.843T>G (p.Phe281Leu)
c.*301T>G (n.*301T>G)
16g.27362619T>ACA395298225IL4Rc.1267T>A (p.Cys423Ser)
c.1222T>A (p.Cys408Ser)
c.230-1484T>A (n.230-1484T>A)
c.*1310T>A (n.*1310T>A)
c.787T>A (p.Cys263Ser)
c.376T>A (p.Cys126Ser)
c.316T>A (p.Cys106Ser)
c.1000T>A (p.Cys334Ser)
c.970T>A (p.Cys324Ser)
c.844T>A (p.Cys282Ser)
c.*302T>A (n.*302T>A)
16g.27362619T>CCA395298226IL4Rc.1267T>C (p.Cys423Arg)
c.1222T>C (p.Cys408Arg)
c.230-1484T>C (n.230-1484T>C)
c.*1310T>C (n.*1310T>C)
c.787T>C (p.Cys263Arg)
c.376T>C (p.Cys126Arg)
c.316T>C (p.Cys106Arg)
c.1000T>C (p.Cys334Arg)
c.970T>C (p.Cys324Arg)
c.844T>C (p.Cys282Arg)
c.*302T>C (n.*302T>C)
16g.27362619T>GCA7974527IL4Rc.1267T>G (p.Cys423Gly)
c.1222T>G (p.Cys408Gly)
c.230-1484T>G (n.230-1484T>G)
c.*1310T>G (n.*1310T>G)
c.787T>G (p.Cys263Gly)
c.376T>G (p.Cys126Gly)
c.316T>G (p.Cys106Gly)
c.1000T>G (p.Cys334Gly)
c.970T>G (p.Cys324Gly)
c.844T>G (p.Cys282Gly)
c.*302T>G (n.*302T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362619T=CA2215169537IL4Rc.1267T= (p.Cys423=)
c.1222T= (p.Cys408=)
c.230-1484T= (n.230-1484T=)
c.*1310T= (n.*1310T=)
c.787T= (p.Cys263=)
c.376T= (p.Cys126=)
c.316T= (p.Cys106=)
c.1000T= (p.Cys334=)
c.970T= (p.Cys324=)
c.844T= (p.Cys282=)
c.*302T= (n.*302T=)
16g.27362620G>ACA395298229IL4Rc.1268G>A (p.Cys423Tyr)
c.1223G>A (p.Cys408Tyr)
c.230-1483G>A (n.230-1483G>A)
c.*1311G>A (n.*1311G>A)
c.788G>A (p.Cys263Tyr)
c.377G>A (p.Cys126Tyr)
c.317G>A (p.Cys106Tyr)
c.1001G>A (p.Cys334Tyr)
c.971G>A (p.Cys324Tyr)
c.845G>A (p.Cys282Tyr)
c.*303G>A (n.*303G>A)
16g.27362620G>CCA395298231IL4Rc.1268G>C (p.Cys423Ser)
c.1223G>C (p.Cys408Ser)
c.230-1483G>C (n.230-1483G>C)
c.*1311G>C (n.*1311G>C)
c.788G>C (p.Cys263Ser)
c.377G>C (p.Cys126Ser)
c.317G>C (p.Cys106Ser)
c.1001G>C (p.Cys334Ser)
c.971G>C (p.Cys324Ser)
c.845G>C (p.Cys282Ser)
c.*303G>C (n.*303G>C)
16g.27362620G>TCA395298233IL4Rc.1268G>T (p.Cys423Phe)
c.1223G>T (p.Cys408Phe)
c.230-1483G>T (n.230-1483G>T)
c.*1311G>T (n.*1311G>T)
c.788G>T (p.Cys263Phe)
c.377G>T (p.Cys126Phe)
c.317G>T (p.Cys106Phe)
c.1001G>T (p.Cys334Phe)
c.971G>T (p.Cys324Phe)
c.845G>T (p.Cys282Phe)
c.*303G>T (n.*303G>T)
16g.27362621C>ACA395298237IL4Rc.1269C>A (p.Cys423Ter)
c.1224C>A (p.Cys408Ter)
c.230-1482C>A (n.230-1482C>A)
c.*1312C>A (n.*1312C>A)
c.789C>A (p.Cys263Ter)
c.378C>A (p.Cys126Ter)
c.318C>A (p.Cys106Ter)
c.1002C>A (p.Cys334Ter)
c.972C>A (p.Cys324Ter)
c.846C>A (p.Cys282Ter)
c.*304C>A (n.*304C>A)
16g.27362621C=CA2215169541IL4Rc.1269C= (p.Cys423=)
c.1224C= (p.Cys408=)
c.230-1482C= (n.230-1482C=)
c.*1312C= (n.*1312C=)
c.789C= (p.Cys263=)
c.378C= (p.Cys126=)
c.318C= (p.Cys106=)
c.1002C= (p.Cys334=)
c.972C= (p.Cys324=)
c.846C= (p.Cys282=)
c.*304C= (n.*304C=)
16g.27362621C>GCA395298239IL4Rc.1269C>G (p.Cys423Trp)
c.1224C>G (p.Cys408Trp)
c.230-1482C>G (n.230-1482C>G)
c.*1312C>G (n.*1312C>G)
c.789C>G (p.Cys263Trp)
c.378C>G (p.Cys126Trp)
c.318C>G (p.Cys106Trp)
c.1002C>G (p.Cys334Trp)
c.972C>G (p.Cys324Trp)
c.846C>G (p.Cys282Trp)
c.*304C>G (n.*304C>G)
16g.27362621C>TCA494470467IL4Rc.1269C>T (p.Cys423=)
c.1224C>T (p.Cys408=)
c.230-1482C>T (n.230-1482C>T)
c.*1312C>T (n.*1312C>T)
c.789C>T (p.Cys263=)
c.378C>T (p.Cys126=)
c.318C>T (p.Cys106=)
c.1002C>T (p.Cys334=)
c.972C>T (p.Cys324=)
c.846C>T (p.Cys282=)
c.*304C>T (n.*304C>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.27362622C>ACA395298242IL4Rc.1270C>A (p.Gln424Lys)
c.1225C>A (p.Gln409Lys)
c.230-1481C>A (n.230-1481C>A)
c.*1313C>A (n.*1313C>A)
c.790C>A (p.Gln264Lys)
c.379C>A (p.Gln127Lys)
c.319C>A (p.Gln107Lys)
c.1003C>A (p.Gln335Lys)
c.973C>A (p.Gln325Lys)
c.847C>A (p.Gln283Lys)
c.*305C>A (n.*305C>A)
16g.27362622C>GCA395298244IL4Rc.1270C>G (p.Gln424Glu)
c.1225C>G (p.Gln409Glu)
c.230-1481C>G (n.230-1481C>G)
c.*1313C>G (n.*1313C>G)
c.790C>G (p.Gln264Glu)
c.379C>G (p.Gln127Glu)
c.319C>G (p.Gln107Glu)
c.1003C>G (p.Gln335Glu)
c.973C>G (p.Gln325Glu)
c.847C>G (p.Gln283Glu)
c.*305C>G (n.*305C>G)
16g.27362622C>TCA395298246IL4Rc.1270C>T (p.Gln424Ter)
c.1225C>T (p.Gln409Ter)
c.230-1481C>T (n.230-1481C>T)
c.*1313C>T (n.*1313C>T)
c.790C>T (p.Gln264Ter)
c.379C>T (p.Gln127Ter)
c.319C>T (p.Gln107Ter)
c.1003C>T (p.Gln335Ter)
c.973C>T (p.Gln325Ter)
c.847C>T (p.Gln283Ter)
c.*305C>T (n.*305C>T)
16g.27362623A>CCA395298248IL4Rc.1271A>C (p.Gln424Pro)
c.1226A>C (p.Gln409Pro)
c.230-1480A>C (n.230-1480A>C)
c.*1314A>C (n.*1314A>C)
c.791A>C (p.Gln264Pro)
c.380A>C (p.Gln127Pro)
c.320A>C (p.Gln107Pro)
c.1004A>C (p.Gln335Pro)
c.974A>C (p.Gln325Pro)
c.848A>C (p.Gln283Pro)
c.*306A>C (n.*306A>C)
16g.27362623A>GCA395298250IL4Rc.1271A>G (p.Gln424Arg)
c.1226A>G (p.Gln409Arg)
c.230-1480A>G (n.230-1480A>G)
c.*1314A>G (n.*1314A>G)
c.791A>G (p.Gln264Arg)
c.380A>G (p.Gln127Arg)
c.320A>G (p.Gln107Arg)
c.1004A>G (p.Gln335Arg)
c.974A>G (p.Gln325Arg)
c.848A>G (p.Gln283Arg)
c.*306A>G (n.*306A>G)
 gnomAD v4
16g.27362623A>TCA395298252IL4Rc.1271A>T (p.Gln424Leu)
c.1226A>T (p.Gln409Leu)
c.230-1480A>T (n.230-1480A>T)
c.*1314A>T (n.*1314A>T)
c.791A>T (p.Gln264Leu)
c.380A>T (p.Gln127Leu)
c.320A>T (p.Gln107Leu)
c.1004A>T (p.Gln335Leu)
c.974A>T (p.Gln325Leu)
c.848A>T (p.Gln283Leu)
c.*306A>T (n.*306A>T)
16g.27362624G>ACA279686553IL4Rc.1272G>A (p.Gln424=)
c.1227G>A (p.Gln409=)
c.230-1479G>A (n.230-1479G>A)
c.*1315G>A (n.*1315G>A)
c.792G>A (p.Gln264=)
c.381G>A (p.Gln127=)
c.321G>A (p.Gln107=)
c.1005G>A (p.Gln335=)
c.975G>A (p.Gln325=)
c.849G>A (p.Gln283=)
c.*307G>A (n.*307G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.27362624G>CCA395298257IL4Rc.1272G>C (p.Gln424His)
c.1227G>C (p.Gln409His)
c.230-1479G>C (n.230-1479G>C)
c.*1315G>C (n.*1315G>C)
c.792G>C (p.Gln264His)
c.381G>C (p.Gln127His)
c.321G>C (p.Gln107His)
c.1005G>C (p.Gln335His)
c.975G>C (p.Gln325His)
c.849G>C (p.Gln283His)
c.*307G>C (n.*307G>C)
16g.27362624G=CA2215169543IL4Rc.1272G= (p.Gln424=)
c.1227G= (p.Gln409=)
c.230-1479G= (n.230-1479G=)
c.*1315G= (n.*1315G=)
c.792G= (p.Gln264=)
c.381G= (p.Gln127=)
c.321G= (p.Gln107=)
c.1005G= (p.Gln335=)
c.975G= (p.Gln325=)
c.849G= (p.Gln283=)
c.*307G= (n.*307G=)
16g.27362624G>TCA395298255IL4Rc.1272G>T (p.Gln424His)
c.1227G>T (p.Gln409His)
c.230-1479G>T (n.230-1479G>T)
c.*1315G>T (n.*1315G>T)
c.792G>T (p.Gln264His)
c.381G>T (p.Gln127His)
c.321G>T (p.Gln107His)
c.1005G>T (p.Gln335His)
c.975G>T (p.Gln325His)
c.849G>T (p.Gln283His)
c.*307G>T (n.*307G>T)
16g.27362625C>ACA395298260IL4Rc.1273C>A (p.Gln425Lys)
c.1228C>A (p.Gln410Lys)
c.230-1478C>A (n.230-1478C>A)
c.*1316C>A (n.*1316C>A)
c.793C>A (p.Gln265Lys)
c.382C>A (p.Gln128Lys)
c.322C>A (p.Gln108Lys)
c.1006C>A (p.Gln336Lys)
c.976C>A (p.Gln326Lys)
c.850C>A (p.Gln284Lys)
c.*308C>A (n.*308C>A)
16g.27362625C>GCA395298262IL4Rc.1273C>G (p.Gln425Glu)
c.1228C>G (p.Gln410Glu)
c.230-1478C>G (n.230-1478C>G)
c.*1316C>G (n.*1316C>G)
c.793C>G (p.Gln265Glu)
c.382C>G (p.Gln128Glu)
c.322C>G (p.Gln108Glu)
c.1006C>G (p.Gln336Glu)
c.976C>G (p.Gln326Glu)
c.850C>G (p.Gln284Glu)
c.*308C>G (n.*308C>G)
16g.27362625C>TCA395298264IL4Rc.1273C>T (p.Gln425Ter)
c.1228C>T (p.Gln410Ter)
c.230-1478C>T (n.230-1478C>T)
c.*1316C>T (n.*1316C>T)
c.793C>T (p.Gln265Ter)
c.382C>T (p.Gln128Ter)
c.322C>T (p.Gln108Ter)
c.1006C>T (p.Gln336Ter)
c.976C>T (p.Gln326Ter)
c.850C>T (p.Gln284Ter)
c.*308C>T (n.*308C>T)
16g.27362626A>CCA395298267IL4Rc.1274A>C (p.Gln425Pro)
c.1229A>C (p.Gln410Pro)
c.230-1477A>C (n.230-1477A>C)
c.*1317A>C (n.*1317A>C)
c.794A>C (p.Gln265Pro)
c.383A>C (p.Gln128Pro)
c.323A>C (p.Gln108Pro)
c.1007A>C (p.Gln336Pro)
c.977A>C (p.Gln326Pro)
c.851A>C (p.Gln284Pro)
c.*309A>C (n.*309A>C)
16g.27362626A>GCA395298269IL4Rc.1274A>G (p.Gln425Arg)
c.1229A>G (p.Gln410Arg)
c.230-1477A>G (n.230-1477A>G)
c.*1317A>G (n.*1317A>G)
c.794A>G (p.Gln265Arg)
c.383A>G (p.Gln128Arg)
c.323A>G (p.Gln108Arg)
c.1007A>G (p.Gln336Arg)
c.977A>G (p.Gln326Arg)
c.851A>G (p.Gln284Arg)
c.*309A>G (n.*309A>G)
 gnomAD v4
16g.27362626A>TCA395298271IL4Rc.1274A>T (p.Gln425Leu)
c.1229A>T (p.Gln410Leu)
c.230-1477A>T (n.230-1477A>T)
c.*1317A>T (n.*1317A>T)
c.794A>T (p.Gln265Leu)
c.383A>T (p.Gln128Leu)
c.323A>T (p.Gln108Leu)
c.1007A>T (p.Gln336Leu)
c.977A>T (p.Gln326Leu)
c.851A>T (p.Gln284Leu)
c.*309A>T (n.*309A>T)
16g.27362627G>ACA494470485IL4Rc.1275G>A (p.Gln425=)
c.1230G>A (p.Gln410=)
c.230-1476G>A (n.230-1476G>A)
c.*1318G>A (n.*1318G>A)
c.795G>A (p.Gln265=)
c.384G>A (p.Gln128=)
c.324G>A (p.Gln108=)
c.1008G>A (p.Gln336=)
c.978G>A (p.Gln326=)
c.852G>A (p.Gln284=)
c.*310G>A (n.*310G>A)
16g.27362627G>CCA395298274IL4Rc.1275G>C (p.Gln425His)
c.1230G>C (p.Gln410His)
c.230-1476G>C (n.230-1476G>C)
c.*1318G>C (n.*1318G>C)
c.795G>C (p.Gln265His)
c.384G>C (p.Gln128His)
c.324G>C (p.Gln108His)
c.1008G>C (p.Gln336His)
c.978G>C (p.Gln326His)
c.852G>C (p.Gln284His)
c.*310G>C (n.*310G>C)
16g.27362627G>TCA395298275IL4Rc.1275G>T (p.Gln425His)
c.1230G>T (p.Gln410His)
c.230-1476G>T (n.230-1476G>T)
c.*1318G>T (n.*1318G>T)
c.795G>T (p.Gln265His)
c.384G>T (p.Gln128His)
c.324G>T (p.Gln108His)
c.1008G>T (p.Gln336His)
c.978G>T (p.Gln326His)
c.852G>T (p.Gln284His)
c.*310G>T (n.*310G>T)
16g.27362628G>ACA395298278IL4Rc.1276G>A (p.Asp426Asn)
c.1231G>A (p.Asp411Asn)
c.230-1475G>A (n.230-1475G>A)
c.*1319G>A (n.*1319G>A)
c.796G>A (p.Asp266Asn)
c.385G>A (p.Asp129Asn)
c.325G>A (p.Asp109Asn)
c.1009G>A (p.Asp337Asn)
c.979G>A (p.Asp327Asn)
c.853G>A (p.Asp285Asn)
c.*311G>A (n.*311G>A)
 gnomAD v4
16g.27362628G>CCA395298280IL4Rc.1276G>C (p.Asp426His)
c.1231G>C (p.Asp411His)
c.230-1475G>C (n.230-1475G>C)
c.*1319G>C (n.*1319G>C)
c.796G>C (p.Asp266His)
c.385G>C (p.Asp129His)
c.325G>C (p.Asp109His)
c.1009G>C (p.Asp337His)
c.979G>C (p.Asp327His)
c.853G>C (p.Asp285His)
c.*311G>C (n.*311G>C)
 dbSNP gnomAD v2 gnomAD v4
16g.27362628G=CA2215169546IL4Rc.1276G= (p.Asp426=)
c.1231G= (p.Asp411=)
c.230-1475G= (n.230-1475G=)
c.*1319G= (n.*1319G=)
c.796G= (p.Asp266=)
c.385G= (p.Asp129=)
c.325G= (p.Asp109=)
c.1009G= (p.Asp337=)
c.979G= (p.Asp327=)
c.853G= (p.Asp285=)
c.*311G= (n.*311G=)
16g.27362628G>TCA395298282IL4Rc.1276G>T (p.Asp426Tyr)
c.1231G>T (p.Asp411Tyr)
c.230-1475G>T (n.230-1475G>T)
c.*1319G>T (n.*1319G>T)
c.796G>T (p.Asp266Tyr)
c.385G>T (p.Asp129Tyr)
c.325G>T (p.Asp109Tyr)
c.1009G>T (p.Asp337Tyr)
c.979G>T (p.Asp327Tyr)
c.853G>T (p.Asp285Tyr)
c.*311G>T (n.*311G>T)
 gnomAD v4
16g.27362629A=CA2215169549IL4Rc.1277A= (p.Asp426=)
c.1232A= (p.Asp411=)
c.230-1474A= (n.230-1474A=)
c.*1320A= (n.*1320A=)
c.797A= (p.Asp266=)
c.386A= (p.Asp129=)
c.326A= (p.Asp109=)
c.1010A= (p.Asp337=)
c.980A= (p.Asp327=)
c.854A= (p.Asp285=)
c.*312A= (n.*312A=)
16g.27362629A>CCA395298284IL4Rc.1277A>C (p.Asp426Ala)
c.1232A>C (p.Asp411Ala)
c.230-1474A>C (n.230-1474A>C)
c.*1320A>C (n.*1320A>C)
c.797A>C (p.Asp266Ala)
c.386A>C (p.Asp129Ala)
c.326A>C (p.Asp109Ala)
c.1010A>C (p.Asp337Ala)
c.980A>C (p.Asp327Ala)
c.854A>C (p.Asp285Ala)
c.*312A>C (n.*312A>C)
 gnomAD v4
16g.27362629A>GCA395298286IL4Rc.1277A>G (p.Asp426Gly)
c.1232A>G (p.Asp411Gly)
c.230-1474A>G (n.230-1474A>G)
c.*1320A>G (n.*1320A>G)
c.797A>G (p.Asp266Gly)
c.386A>G (p.Asp129Gly)
c.326A>G (p.Asp109Gly)
c.1010A>G (p.Asp337Gly)
c.980A>G (p.Asp327Gly)
c.854A>G (p.Asp285Gly)
c.*312A>G (n.*312A>G)
16g.27362629A>TCA395298289IL4Rc.1277A>T (p.Asp426Val)
c.1232A>T (p.Asp411Val)
c.230-1474A>T (n.230-1474A>T)
c.*1320A>T (n.*1320A>T)
c.797A>T (p.Asp266Val)
c.386A>T (p.Asp129Val)
c.326A>T (p.Asp109Val)
c.1010A>T (p.Asp337Val)
c.980A>T (p.Asp327Val)
c.854A>T (p.Asp285Val)
c.*312A>T (n.*312A>T)
 dbSNP gnomAD v2
16g.27362630C>ACA395298292IL4Rc.1278C>A (p.Asp426Glu)
c.1233C>A (p.Asp411Glu)
c.230-1473C>A (n.230-1473C>A)
c.*1321C>A (n.*1321C>A)
c.798C>A (p.Asp266Glu)
c.387C>A (p.Asp129Glu)
c.327C>A (p.Asp109Glu)
c.1011C>A (p.Asp337Glu)
c.981C>A (p.Asp327Glu)
c.855C>A (p.Asp285Glu)
c.*313C>A (n.*313C>A)
16g.27362630C=CA2215169557IL4Rc.1278C= (p.Asp426=)
c.1233C= (p.Asp411=)
c.230-1473C= (n.230-1473C=)
c.*1321C= (n.*1321C=)
c.798C= (p.Asp266=)
c.387C= (p.Asp129=)
c.327C= (p.Asp109=)
c.1011C= (p.Asp337=)
c.981C= (p.Asp327=)
c.855C= (p.Asp285=)
c.*313C= (n.*313C=)
16g.27362630C>GCA395298293IL4Rc.1278C>G (p.Asp426Glu)
c.1233C>G (p.Asp411Glu)
c.230-1473C>G (n.230-1473C>G)
c.*1321C>G (n.*1321C>G)
c.798C>G (p.Asp266Glu)
c.387C>G (p.Asp129Glu)
c.327C>G (p.Asp109Glu)
c.1011C>G (p.Asp337Glu)
c.981C>G (p.Asp327Glu)
c.855C>G (p.Asp285Glu)
c.*313C>G (n.*313C>G)
16g.27362630C>TCA494470489IL4Rc.1278C>T (p.Asp426=)
c.1233C>T (p.Asp411=)
c.230-1473C>T (n.230-1473C>T)
c.*1321C>T (n.*1321C>T)
c.798C>T (p.Asp266=)
c.387C>T (p.Asp129=)
c.327C>T (p.Asp109=)
c.1011C>T (p.Asp337=)
c.981C>T (p.Asp327=)
c.855C>T (p.Asp285=)
c.*313C>T (n.*313C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.27362631A=CA2215169558IL4Rc.1279A= (p.Met427=)
c.1234A= (p.Met412=)
c.230-1472A= (n.230-1472A=)
c.*1322A= (n.*1322A=)
c.799A= (p.Met267=)
c.388A= (p.Met130=)
c.328A= (p.Met110=)
c.1012A= (p.Met338=)
c.982A= (p.Met328=)
c.856A= (p.Met286=)
c.*314A= (n.*314A=)
16g.27362631A>CCA395298295IL4Rc.1279A>C (p.Met427Leu)
c.1234A>C (p.Met412Leu)
c.230-1472A>C (n.230-1472A>C)
c.*1322A>C (n.*1322A>C)
c.799A>C (p.Met267Leu)
c.388A>C (p.Met130Leu)
c.328A>C (p.Met110Leu)
c.1012A>C (p.Met338Leu)
c.982A>C (p.Met328Leu)
c.856A>C (p.Met286Leu)
c.*314A>C (n.*314A>C)
16g.27362631A>GCA395298296IL4Rc.1279A>G (p.Met427Val)
c.1234A>G (p.Met412Val)
c.230-1472A>G (n.230-1472A>G)
c.*1322A>G (n.*1322A>G)
c.799A>G (p.Met267Val)
c.388A>G (p.Met130Val)
c.328A>G (p.Met110Val)
c.1012A>G (p.Met338Val)
c.982A>G (p.Met328Val)
c.856A>G (p.Met286Val)
c.*314A>G (n.*314A>G)
 dbSNP gnomAD v4
16g.27362631A>TCA395298299IL4Rc.1279A>T (p.Met427Leu)
c.1234A>T (p.Met412Leu)
c.230-1472A>T (n.230-1472A>T)
c.*1322A>T (n.*1322A>T)
c.799A>T (p.Met267Leu)
c.388A>T (p.Met130Leu)
c.328A>T (p.Met110Leu)
c.1012A>T (p.Met338Leu)
c.982A>T (p.Met328Leu)
c.856A>T (p.Met286Leu)
c.*314A>T (n.*314A>T)
16g.27362632T>ACA395298301IL4Rc.1280T>A (p.Met427Lys)
c.1235T>A (p.Met412Lys)
c.230-1471T>A (n.230-1471T>A)
c.*1323T>A (n.*1323T>A)
c.800T>A (p.Met267Lys)
c.389T>A (p.Met130Lys)
c.329T>A (p.Met110Lys)
c.1013T>A (p.Met338Lys)
c.983T>A (p.Met328Lys)
c.857T>A (p.Met286Lys)
c.*315T>A (n.*315T>A)
16g.27362632T>CCA395298303IL4Rc.1280T>C (p.Met427Thr)
c.1235T>C (p.Met412Thr)
c.230-1471T>C (n.230-1471T>C)
c.*1323T>C (n.*1323T>C)
c.800T>C (p.Met267Thr)
c.389T>C (p.Met130Thr)
c.329T>C (p.Met110Thr)
c.1013T>C (p.Met338Thr)
c.983T>C (p.Met328Thr)
c.857T>C (p.Met286Thr)
c.*315T>C (n.*315T>C)
 dbSNP gnomAD v3 gnomAD v4
16g.27362632T>GCA395298306IL4Rc.1280T>G (p.Met427Arg)
c.1235T>G (p.Met412Arg)
c.230-1471T>G (n.230-1471T>G)
c.*1323T>G (n.*1323T>G)
c.800T>G (p.Met267Arg)
c.389T>G (p.Met130Arg)
c.329T>G (p.Met110Arg)
c.1013T>G (p.Met338Arg)
c.983T>G (p.Met328Arg)
c.857T>G (p.Met286Arg)
c.*315T>G (n.*315T>G)
16g.27362632T=CA2215169559IL4Rc.1280T= (p.Met427=)
c.1235T= (p.Met412=)
c.230-1471T= (n.230-1471T=)
c.*1323T= (n.*1323T=)
c.800T= (p.Met267=)
c.389T= (p.Met130=)
c.329T= (p.Met110=)
c.1013T= (p.Met338=)
c.983T= (p.Met328=)
c.857T= (p.Met286=)
c.*315T= (n.*315T=)
16g.27362633G>ACA395298309IL4Rc.1281G>A (p.Met427Ile)
c.1236G>A (p.Met412Ile)
c.230-1470G>A (n.230-1470G>A)
c.*1324G>A (n.*1324G>A)
c.801G>A (p.Met267Ile)
c.390G>A (p.Met130Ile)
c.330G>A (p.Met110Ile)
c.1014G>A (p.Met338Ile)
c.984G>A (p.Met328Ile)
c.858G>A (p.Met286Ile)
c.*316G>A (n.*316G>A)
16g.27362633G>CCA395298311IL4Rc.1281G>C (p.Met427Ile)
c.1236G>C (p.Met412Ile)
c.230-1470G>C (n.230-1470G>C)
c.*1324G>C (n.*1324G>C)
c.801G>C (p.Met267Ile)
c.390G>C (p.Met130Ile)
c.330G>C (p.Met110Ile)
c.1014G>C (p.Met338Ile)
c.984G>C (p.Met328Ile)
c.858G>C (p.Met286Ile)
c.*316G>C (n.*316G>C)
16g.27362633G=CA2215169561IL4Rc.1281G= (p.Met427=)
c.1236G= (p.Met412=)
c.230-1470G= (n.230-1470G=)
c.*1324G= (n.*1324G=)
c.801G= (p.Met267=)
c.390G= (p.Met130=)
c.330G= (p.Met110=)
c.1014G= (p.Met338=)
c.984G= (p.Met328=)
c.858G= (p.Met286=)
c.*316G= (n.*316G=)
16g.27362633G>TCA395298313IL4Rc.1281G>T (p.Met427Ile)
c.1236G>T (p.Met412Ile)
c.230-1470G>T (n.230-1470G>T)
c.*1324G>T (n.*1324G>T)
c.801G>T (p.Met267Ile)
c.390G>T (p.Met130Ile)
c.330G>T (p.Met110Ile)
c.1014G>T (p.Met338Ile)
c.984G>T (p.Met328Ile)
c.858G>T (p.Met286Ile)
c.*316G>T (n.*316G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.27362634G>ACA395298317IL4Rc.1282G>A (p.Gly428Arg)
c.1237G>A (p.Gly413Arg)
c.230-1469G>A (n.230-1469G>A)
c.*1325G>A (n.*1325G>A)
c.802G>A (p.Gly268Arg)
c.391G>A (p.Gly131Arg)
c.331G>A (p.Gly111Arg)
c.1015G>A (p.Gly339Arg)
c.985G>A (p.Gly329Arg)
c.859G>A (p.Gly287Arg)
c.*317G>A (n.*317G>A)
16g.27362634G>CCA395298319IL4Rc.1282G>C (p.Gly428Arg)
c.1237G>C (p.Gly413Arg)
c.230-1469G>C (n.230-1469G>C)
c.*1325G>C (n.*1325G>C)
c.802G>C (p.Gly268Arg)
c.391G>C (p.Gly131Arg)
c.331G>C (p.Gly111Arg)
c.1015G>C (p.Gly339Arg)
c.985G>C (p.Gly329Arg)
c.859G>C (p.Gly287Arg)
c.*317G>C (n.*317G>C)
16g.27362634G>TCA395298321IL4Rc.1282G>T (p.Gly428Trp)
c.1237G>T (p.Gly413Trp)
c.230-1469G>T (n.230-1469G>T)
c.*1325G>T (n.*1325G>T)
c.802G>T (p.Gly268Trp)
c.391G>T (p.Gly131Trp)
c.331G>T (p.Gly111Trp)
c.1015G>T (p.Gly339Trp)
c.985G>T (p.Gly329Trp)
c.859G>T (p.Gly287Trp)
c.*317G>T (n.*317G>T)
16g.27362635G>ACA395298328IL4Rc.1283G>A (p.Gly428Glu)
c.1238G>A (p.Gly413Glu)
c.230-1468G>A (n.230-1468G>A)
c.*1326G>A (n.*1326G>A)
c.803G>A (p.Gly268Glu)
c.392G>A (p.Gly131Glu)
c.332G>A (p.Gly111Glu)
c.1016G>A (p.Gly339Glu)
c.986G>A (p.Gly329Glu)
c.860G>A (p.Gly287Glu)
c.*318G>A (n.*318G>A)
 dbSNP gnomAD v2
16g.27362635G>CCA395298327IL4Rc.1283G>C (p.Gly428Ala)
c.1238G>C (p.Gly413Ala)
c.230-1468G>C (n.230-1468G>C)
c.*1326G>C (n.*1326G>C)
c.803G>C (p.Gly268Ala)
c.392G>C (p.Gly131Ala)
c.332G>C (p.Gly111Ala)
c.1016G>C (p.Gly339Ala)
c.986G>C (p.Gly329Ala)
c.860G>C (p.Gly287Ala)
c.*318G>C (n.*318G>C)
16g.27362635G=CA2215169563IL4Rc.1283G= (p.Gly428=)
c.1238G= (p.Gly413=)
c.230-1468G= (n.230-1468G=)
c.*1326G= (n.*1326G=)
c.803G= (p.Gly268=)
c.392G= (p.Gly131=)
c.332G= (p.Gly111=)
c.1016G= (p.Gly339=)
c.986G= (p.Gly329=)
c.860G= (p.Gly287=)
c.*318G= (n.*318G=)
16g.27362635G>TCA395298325IL4Rc.1283G>T (p.Gly428Val)
c.1238G>T (p.Gly413Val)
c.230-1468G>T (n.230-1468G>T)
c.*1326G>T (n.*1326G>T)
c.803G>T (p.Gly268Val)
c.392G>T (p.Gly131Val)
c.332G>T (p.Gly111Val)
c.1016G>T (p.Gly339Val)
c.986G>T (p.Gly329Val)
c.860G>T (p.Gly287Val)
c.*318G>T (n.*318G>T)
16g.27362636G>ACA494470504IL4Rc.1284G>A (p.Gly428=)
c.1239G>A (p.Gly413=)
c.230-1467G>A (n.230-1467G>A)
c.*1327G>A (n.*1327G>A)
c.804G>A (p.Gly268=)
c.393G>A (p.Gly131=)
c.333G>A (p.Gly111=)
c.1017G>A (p.Gly339=)
c.987G>A (p.Gly329=)
c.861G>A (p.Gly287=)
c.*319G>A (n.*319G>A)
 gnomAD v4
16g.27362636G>CCA494470505IL4Rc.1284G>C (p.Gly428=)
c.1239G>C (p.Gly413=)
c.230-1467G>C (n.230-1467G>C)
c.*1327G>C (n.*1327G>C)
c.804G>C (p.Gly268=)
c.393G>C (p.Gly131=)
c.333G>C (p.Gly111=)
c.1017G>C (p.Gly339=)
c.987G>C (p.Gly329=)
c.861G>C (p.Gly287=)
c.*319G>C (n.*319G>C)
16g.27362636G=CA2215169564IL4Rc.1284G= (p.Gly428=)
c.1239G= (p.Gly413=)
c.230-1467G= (n.230-1467G=)
c.*1327G= (n.*1327G=)
c.804G= (p.Gly268=)
c.393G= (p.Gly131=)
c.333G= (p.Gly111=)
c.1017G= (p.Gly339=)
c.987G= (p.Gly329=)
c.861G= (p.Gly287=)
c.*319G= (n.*319G=)
16g.27362636G>TCA7974528IL4Rc.1284G>T (p.Gly428=)
c.1239G>T (p.Gly413=)
c.230-1467G>T (n.230-1467G>T)
c.*1327G>T (n.*1327G>T)
c.804G>T (p.Gly268=)
c.393G>T (p.Gly131=)
c.333G>T (p.Gly111=)
c.1017G>T (p.Gly339=)
c.987G>T (p.Gly329=)
c.861G>T (p.Gly287=)
c.*319G>T (n.*319G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362637G>ACA7974529IL4Rc.1285G>A (p.Glu429Lys)
c.1240G>A (p.Glu414Lys)
c.230-1466G>A (n.230-1466G>A)
c.*1328G>A (n.*1328G>A)
c.805G>A (p.Glu269Lys)
c.394G>A (p.Glu132Lys)
c.334G>A (p.Glu112Lys)
c.1018G>A (p.Glu340Lys)
c.988G>A (p.Glu330Lys)
c.862G>A (p.Glu288Lys)
c.*320G>A (n.*320G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362637G>CCA395298333IL4Rc.1285G>C (p.Glu429Gln)
c.1240G>C (p.Glu414Gln)
c.230-1466G>C (n.230-1466G>C)
c.*1328G>C (n.*1328G>C)
c.805G>C (p.Glu269Gln)
c.394G>C (p.Glu132Gln)
c.334G>C (p.Glu112Gln)
c.1018G>C (p.Glu340Gln)
c.988G>C (p.Glu330Gln)
c.862G>C (p.Glu288Gln)
c.*320G>C (n.*320G>C)
16g.27362637G=CA2215169565IL4Rc.1285G= (p.Glu429=)
c.1240G= (p.Glu414=)
c.230-1466G= (n.230-1466G=)
c.*1328G= (n.*1328G=)
c.805G= (p.Glu269=)
c.394G= (p.Glu132=)
c.334G= (p.Glu112=)
c.1018G= (p.Glu340=)
c.988G= (p.Glu330=)
c.862G= (p.Glu288=)
c.*320G= (n.*320G=)
16g.27362637G>TCA395298336IL4Rc.1285G>T (p.Glu429Ter)
c.1240G>T (p.Glu414Ter)
c.230-1466G>T (n.230-1466G>T)
c.*1328G>T (n.*1328G>T)
c.805G>T (p.Glu269Ter)
c.394G>T (p.Glu132Ter)
c.334G>T (p.Glu112Ter)
c.1018G>T (p.Glu340Ter)
c.988G>T (p.Glu330Ter)
c.862G>T (p.Glu288Ter)
c.*320G>T (n.*320G>T)
16g.27362638A>CCA395298338IL4Rc.1286A>C (p.Glu429Ala)
c.1241A>C (p.Glu414Ala)
c.230-1465A>C (n.230-1465A>C)
c.*1329A>C (n.*1329A>C)
c.806A>C (p.Glu269Ala)
c.395A>C (p.Glu132Ala)
c.335A>C (p.Glu112Ala)
c.1019A>C (p.Glu340Ala)
c.989A>C (p.Glu330Ala)
c.863A>C (p.Glu288Ala)
c.*321A>C (n.*321A>C)
16g.27362638A>GCA395298340IL4Rc.1286A>G (p.Glu429Gly)
c.1241A>G (p.Glu414Gly)
c.230-1465A>G (n.230-1465A>G)
c.*1329A>G (n.*1329A>G)
c.806A>G (p.Glu269Gly)
c.395A>G (p.Glu132Gly)
c.335A>G (p.Glu112Gly)
c.1019A>G (p.Glu340Gly)
c.989A>G (p.Glu330Gly)
c.863A>G (p.Glu288Gly)
c.*321A>G (n.*321A>G)
16g.27362638A>TCA395298342IL4Rc.1286A>T (p.Glu429Val)
c.1241A>T (p.Glu414Val)
c.230-1465A>T (n.230-1465A>T)
c.*1329A>T (n.*1329A>T)
c.806A>T (p.Glu269Val)
c.395A>T (p.Glu132Val)
c.335A>T (p.Glu112Val)
c.1019A>T (p.Glu340Val)
c.989A>T (p.Glu330Val)
c.863A>T (p.Glu288Val)
c.*321A>T (n.*321A>T)
16g.27362639G>ACA494470509IL4Rc.1287G>A (p.Glu429=)
c.1242G>A (p.Glu414=)
c.230-1464G>A (n.230-1464G>A)
c.*1330G>A (n.*1330G>A)
c.807G>A (p.Glu269=)
c.396G>A (p.Glu132=)
c.336G>A (p.Glu112=)
c.1020G>A (p.Glu340=)
c.990G>A (p.Glu330=)
c.864G>A (p.Glu288=)
c.*322G>A (n.*322G>A)
16g.27362639G>CCA395298344IL4Rc.1287G>C (p.Glu429Asp)
c.1242G>C (p.Glu414Asp)
c.230-1464G>C (n.230-1464G>C)
c.*1330G>C (n.*1330G>C)
c.807G>C (p.Glu269Asp)
c.396G>C (p.Glu132Asp)
c.336G>C (p.Glu112Asp)
c.1020G>C (p.Glu340Asp)
c.990G>C (p.Glu330Asp)
c.864G>C (p.Glu288Asp)
c.*322G>C (n.*322G>C)
 gnomAD v4
16g.27362639G>TCA395298346IL4Rc.1287G>T (p.Glu429Asp)
c.1242G>T (p.Glu414Asp)
c.230-1464G>T (n.230-1464G>T)
c.*1330G>T (n.*1330G>T)
c.807G>T (p.Glu269Asp)
c.396G>T (p.Glu132Asp)
c.336G>T (p.Glu112Asp)
c.1020G>T (p.Glu340Asp)
c.990G>T (p.Glu330Asp)
c.864G>T (p.Glu288Asp)
c.*322G>T (n.*322G>T)
16g.27362640T>ACA395298349IL4Rc.1288T>A (p.Ser430Thr)
c.1243T>A (p.Ser415Thr)
c.230-1463T>A (n.230-1463T>A)
c.*1331T>A (n.*1331T>A)
c.808T>A (p.Ser270Thr)
c.397T>A (p.Ser133Thr)
c.337T>A (p.Ser113Thr)
c.1021T>A (p.Ser341Thr)
c.991T>A (p.Ser331Thr)
c.865T>A (p.Ser289Thr)
c.*323T>A (n.*323T>A)
16g.27362640T>CCA395298351IL4Rc.1288T>C (p.Ser430Pro)
c.1243T>C (p.Ser415Pro)
c.230-1463T>C (n.230-1463T>C)
c.*1331T>C (n.*1331T>C)
c.808T>C (p.Ser270Pro)
c.397T>C (p.Ser133Pro)
c.337T>C (p.Ser113Pro)
c.1021T>C (p.Ser341Pro)
c.991T>C (p.Ser331Pro)
c.865T>C (p.Ser289Pro)
c.*323T>C (n.*323T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362640T>GCA395298353IL4Rc.1288T>G (p.Ser430Ala)
c.1243T>G (p.Ser415Ala)
c.230-1463T>G (n.230-1463T>G)
c.*1331T>G (n.*1331T>G)
c.808T>G (p.Ser270Ala)
c.397T>G (p.Ser133Ala)
c.337T>G (p.Ser113Ala)
c.1021T>G (p.Ser341Ala)
c.991T>G (p.Ser331Ala)
c.865T>G (p.Ser289Ala)
c.*323T>G (n.*323T>G)
 gnomAD v3 gnomAD v4
16g.27362640T=CA2215169566IL4Rc.1288T= (p.Ser430=)
c.1243T= (p.Ser415=)
c.230-1463T= (n.230-1463T=)
c.*1331T= (n.*1331T=)
c.808T= (p.Ser270=)
c.397T= (p.Ser133=)
c.337T= (p.Ser113=)
c.1021T= (p.Ser341=)
c.991T= (p.Ser331=)
c.865T= (p.Ser289=)
c.*323T= (n.*323T=)
16g.27362641C>ACA395298355IL4Rc.1289C>A (p.Ser430Ter)
c.1244C>A (p.Ser415Ter)
c.230-1462C>A (n.230-1462C>A)
c.*1332C>A (n.*1332C>A)
c.809C>A (p.Ser270Ter)
c.398C>A (p.Ser133Ter)
c.338C>A (p.Ser113Ter)
c.1022C>A (p.Ser341Ter)
c.992C>A (p.Ser331Ter)
c.866C>A (p.Ser289Ter)
c.*324C>A (n.*324C>A)
16g.27362641C>GCA395298357IL4Rc.1289C>G (p.Ser430Ter)
c.1244C>G (p.Ser415Ter)
c.230-1462C>G (n.230-1462C>G)
c.*1332C>G (n.*1332C>G)
c.809C>G (p.Ser270Ter)
c.398C>G (p.Ser133Ter)
c.338C>G (p.Ser113Ter)
c.1022C>G (p.Ser341Ter)
c.992C>G (p.Ser331Ter)
c.866C>G (p.Ser289Ter)
c.*324C>G (n.*324C>G)
16g.27362641C>TCA395298359IL4Rc.1289C>T (p.Ser430Leu)
c.1244C>T (p.Ser415Leu)
c.230-1462C>T (n.230-1462C>T)
c.*1332C>T (n.*1332C>T)
c.809C>T (p.Ser270Leu)
c.398C>T (p.Ser133Leu)
c.338C>T (p.Ser113Leu)
c.1022C>T (p.Ser341Leu)
c.992C>T (p.Ser331Leu)
c.866C>T (p.Ser289Leu)
c.*324C>T (n.*324C>T)
16g.27362642A>CCA494470513IL4Rc.1290A>C (p.Ser430=)
c.1245A>C (p.Ser415=)
c.230-1461A>C (n.230-1461A>C)
c.*1333A>C (n.*1333A>C)
c.810A>C (p.Ser270=)
c.399A>C (p.Ser133=)
c.339A>C (p.Ser113=)
c.1023A>C (p.Ser341=)
c.993A>C (p.Ser331=)
c.867A>C (p.Ser289=)
c.*325A>C (n.*325A>C)
16g.27362642A>GCA494470514IL4Rc.1290A>G (p.Ser430=)
c.1245A>G (p.Ser415=)
c.230-1461A>G (n.230-1461A>G)
c.*1333A>G (n.*1333A>G)
c.810A>G (p.Ser270=)
c.399A>G (p.Ser133=)
c.339A>G (p.Ser113=)
c.1023A>G (p.Ser341=)
c.993A>G (p.Ser331=)
c.867A>G (p.Ser289=)
c.*325A>G (n.*325A>G)
 gnomAD v4 COSMIC
16g.27362642A>TCA494470515IL4Rc.1290A>T (p.Ser430=)
c.1245A>T (p.Ser415=)
c.230-1461A>T (n.230-1461A>T)
c.*1333A>T (n.*1333A>T)
c.810A>T (p.Ser270=)
c.399A>T (p.Ser133=)
c.339A>T (p.Ser113=)
c.1023A>T (p.Ser341=)
c.993A>T (p.Ser331=)
c.867A>T (p.Ser289=)
c.*325A>T (n.*325A>T)
16g.27362643T>ACA395298365IL4Rc.1291T>A (p.Cys431Ser)
c.1246T>A (p.Cys416Ser)
c.230-1460T>A (n.230-1460T>A)
c.*1334T>A (n.*1334T>A)
c.811T>A (p.Cys271Ser)
c.400T>A (p.Cys134Ser)
c.340T>A (p.Cys114Ser)
c.1024T>A (p.Cys342Ser)
c.994T>A (p.Cys332Ser)
c.868T>A (p.Cys290Ser)
c.*326T>A (n.*326T>A)
16g.27362643T>CCA7974530IL4Rc.1291T>C (p.Cys431Arg)
c.1246T>C (p.Cys416Arg)
c.230-1460T>C (n.230-1460T>C)
c.*1334T>C (n.*1334T>C)
c.811T>C (p.Cys271Arg)
c.400T>C (p.Cys134Arg)
c.340T>C (p.Cys114Arg)
c.1024T>C (p.Cys342Arg)
c.994T>C (p.Cys332Arg)
c.868T>C (p.Cys290Arg)
c.*326T>C (n.*326T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362643T>GCA395298361IL4Rc.1291T>G (p.Cys431Gly)
c.1246T>G (p.Cys416Gly)
c.230-1460T>G (n.230-1460T>G)
c.*1334T>G (n.*1334T>G)
c.811T>G (p.Cys271Gly)
c.400T>G (p.Cys134Gly)
c.340T>G (p.Cys114Gly)
c.1024T>G (p.Cys342Gly)
c.994T>G (p.Cys332Gly)
c.868T>G (p.Cys290Gly)
c.*326T>G (n.*326T>G)
16g.27362643T=CA2215169569IL4Rc.1291T= (p.Cys431=)
c.1246T= (p.Cys416=)
c.230-1460T= (n.230-1460T=)
c.*1334T= (n.*1334T=)
c.811T= (p.Cys271=)
c.400T= (p.Cys134=)
c.340T= (p.Cys114=)
c.1024T= (p.Cys342=)
c.994T= (p.Cys332=)
c.868T= (p.Cys290=)
c.*326T= (n.*326T=)
16g.27362644G>ACA395298368IL4Rc.1292G>A (p.Cys431Tyr)
c.1247G>A (p.Cys416Tyr)
c.230-1459G>A (n.230-1459G>A)
c.*1335G>A (n.*1335G>A)
c.812G>A (p.Cys271Tyr)
c.401G>A (p.Cys134Tyr)
c.341G>A (p.Cys114Tyr)
c.1025G>A (p.Cys342Tyr)
c.995G>A (p.Cys332Tyr)
c.869G>A (p.Cys290Tyr)
c.*327G>A (n.*327G>A)
16g.27362644G>CCA395298370IL4Rc.1292G>C (p.Cys431Ser)
c.1247G>C (p.Cys416Ser)
c.230-1459G>C (n.230-1459G>C)
c.*1335G>C (n.*1335G>C)
c.812G>C (p.Cys271Ser)
c.401G>C (p.Cys134Ser)
c.341G>C (p.Cys114Ser)
c.1025G>C (p.Cys342Ser)
c.995G>C (p.Cys332Ser)
c.869G>C (p.Cys290Ser)
c.*327G>C (n.*327G>C)
16g.27362644G>TCA395298372IL4Rc.1292G>T (p.Cys431Phe)
c.1247G>T (p.Cys416Phe)
c.230-1459G>T (n.230-1459G>T)
c.*1335G>T (n.*1335G>T)
c.812G>T (p.Cys271Phe)
c.401G>T (p.Cys134Phe)
c.341G>T (p.Cys114Phe)
c.1025G>T (p.Cys342Phe)
c.995G>T (p.Cys332Phe)
c.869G>T (p.Cys290Phe)
c.*327G>T (n.*327G>T)
16g.27362645C>ACA395298379IL4Rc.1293C>A (p.Cys431Ter)
c.1248C>A (p.Cys416Ter)
c.230-1458C>A (n.230-1458C>A)
c.*1336C>A (n.*1336C>A)
c.813C>A (p.Cys271Ter)
c.402C>A (p.Cys134Ter)
c.342C>A (p.Cys114Ter)
c.1026C>A (p.Cys342Ter)
c.996C>A (p.Cys332Ter)
c.870C>A (p.Cys290Ter)
c.*328C>A (n.*328C>A)
16g.27362645C=CA2215169571IL4Rc.1293C= (p.Cys431=)
c.1248C= (p.Cys416=)
c.230-1458C= (n.230-1458C=)
c.*1336C= (n.*1336C=)
c.813C= (p.Cys271=)
c.402C= (p.Cys134=)
c.342C= (p.Cys114=)
c.1026C= (p.Cys342=)
c.996C= (p.Cys332=)
c.870C= (p.Cys290=)
c.*328C= (n.*328C=)
16g.27362645C>GCA395298380IL4Rc.1293C>G (p.Cys431Trp)
c.1248C>G (p.Cys416Trp)
c.230-1458C>G (n.230-1458C>G)
c.*1336C>G (n.*1336C>G)
c.813C>G (p.Cys271Trp)
c.402C>G (p.Cys134Trp)
c.342C>G (p.Cys114Trp)
c.1026C>G (p.Cys342Trp)
c.996C>G (p.Cys332Trp)
c.870C>G (p.Cys290Trp)
c.*328C>G (n.*328C>G)
16g.27362645C>TCA7974531IL4Rc.1293C>T (p.Cys431=)
c.1248C>T (p.Cys416=)
c.230-1458C>T (n.230-1458C>T)
c.*1336C>T (n.*1336C>T)
c.813C>T (p.Cys271=)
c.402C>T (p.Cys134=)
c.342C>T (p.Cys114=)
c.1026C>T (p.Cys342=)
c.996C>T (p.Cys332=)
c.870C>T (p.Cys290=)
c.*328C>T (n.*328C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362645_27362648delinsCCTTCA2215169572IL4Rc.1293_1296delinsCCTT (p.Cys431=)
c.1248_1251delinsCCTT (p.Cys416=)
c.230-1458_230-1455delinsCCTT (n.230-1458_230-1455delinsCCTT)
c.*1336_*1339delinsCCTT (n.*1336_*1339delinsCCTT)
c.813_816delinsCCTT (p.Cys271=)
c.402_405delinsCCTT (p.Cys134=)
c.342_345delinsCCTT (p.Cys114=)
c.1026_1029delinsCCTT (p.Cys342=)
c.996_999delinsCCTT (p.Cys332=)
c.870_873delinsCCTT (p.Cys290=)
c.*328_*331delinsCCTT (n.*328_*331delinsCCTT)

Number of alleles fetched