| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.27362543G>A | CA494470967 | IL4R | c.1191G>A (p.Glu397=) c.1146G>A (p.Glu382=) c.230-1560G>A (n.230-1560G>A) c.*1234G>A (n.*1234G>A) c.711G>A (p.Glu237=) c.300G>A (p.Glu100=) c.240G>A (p.Glu80=) c.924G>A (p.Glu308=) c.894G>A (p.Glu298=) c.768G>A (p.Glu256=) c.*226G>A (n.*226G>A) | |
| 16 | g.27362543G>C | CA395297934 | IL4R | c.1191G>C (p.Glu397Asp) c.1146G>C (p.Glu382Asp) c.230-1560G>C (n.230-1560G>C) c.*1234G>C (n.*1234G>C) c.711G>C (p.Glu237Asp) c.300G>C (p.Glu100Asp) c.240G>C (p.Glu80Asp) c.924G>C (p.Glu308Asp) c.894G>C (p.Glu298Asp) c.768G>C (p.Glu256Asp) c.*226G>C (n.*226G>C) | |
| 16 | g.27362543G>T | CA395297935 | IL4R | c.1191G>T (p.Glu397Asp) c.1146G>T (p.Glu382Asp) c.230-1560G>T (n.230-1560G>T) c.*1234G>T (n.*1234G>T) c.711G>T (p.Glu237Asp) c.300G>T (p.Glu100Asp) c.240G>T (p.Glu80Asp) c.924G>T (p.Glu308Asp) c.894G>T (p.Glu298Asp) c.768G>T (p.Glu256Asp) c.*226G>T (n.*226G>T) | |
| 16 | g.27362544G>A | CA395297936 | IL4R | c.1192G>A (p.Gly398Arg) c.1147G>A (p.Gly383Arg) c.230-1559G>A (n.230-1559G>A) c.*1235G>A (n.*1235G>A) c.712G>A (p.Gly238Arg) c.301G>A (p.Gly101Arg) c.241G>A (p.Gly81Arg) c.925G>A (p.Gly309Arg) c.895G>A (p.Gly299Arg) c.769G>A (p.Gly257Arg) c.*227G>A (n.*227G>A) | |
| 16 | g.27362544G>C | CA7974508 | IL4R | c.1192G>C (p.Gly398Arg) c.1147G>C (p.Gly383Arg) c.230-1559G>C (n.230-1559G>C) c.*1235G>C (n.*1235G>C) c.712G>C (p.Gly238Arg) c.301G>C (p.Gly101Arg) c.241G>C (p.Gly81Arg) c.925G>C (p.Gly309Arg) c.895G>C (p.Gly299Arg) c.769G>C (p.Gly257Arg) c.*227G>C (n.*227G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.27362544G= | CA2215169460 | IL4R | c.1192G= (p.Gly398=) c.1147G= (p.Gly383=) c.230-1559G= (n.230-1559G=) c.*1235G= (n.*1235G=) c.712G= (p.Gly238=) c.301G= (p.Gly101=) c.241G= (p.Gly81=) c.925G= (p.Gly309=) c.895G= (p.Gly299=) c.769G= (p.Gly257=) c.*227G= (n.*227G=) | |
| 16 | g.27362544G>T | CA395297937 | IL4R | c.1192G>T (p.Gly398Ter) c.1147G>T (p.Gly383Ter) c.230-1559G>T (n.230-1559G>T) c.*1235G>T (n.*1235G>T) c.712G>T (p.Gly238Ter) c.301G>T (p.Gly101Ter) c.241G>T (p.Gly81Ter) c.925G>T (p.Gly309Ter) c.895G>T (p.Gly299Ter) c.769G>T (p.Gly257Ter) c.*227G>T (n.*227G>T) | |
| 16 | g.27362545G>A | CA7974509 | IL4R | c.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 |
| 16 | g.27362545G>C | CA395297938 | IL4R | c.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 |
| 16 | g.27362545G= | CA2215169461 | IL4R | c.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=) | |
| 16 | g.27362545G>T | CA395297939 | IL4R | c.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) | |
| 16 | g.27362546A= | CA2215169463 | IL4R | c.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=) | |
| 16 | g.27362546A>C | CA494470977 | IL4R | c.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) | |
| 16 | g.27362546A>G | CA279686487 | IL4R | c.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 |
| 16 | g.27362546A>T | CA494470978 | IL4R | c.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) | |
| 16 | g.27362547A>C | CA494470982 | IL4R | c.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) | |
| 16 | g.27362547A>G | CA395297940 | IL4R | c.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) | |
| 16 | g.27362547A>T | CA395297941 | IL4R | c.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) | |
| 16 | g.27362548G>A | CA395297942 | IL4R | c.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 |
| 16 | g.27362548G>C | CA395297943 | IL4R | c.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) | |
| 16 | g.27362548G>T | CA395297944 | IL4R | c.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) | |
| 16 | g.27362549G>A | CA494470987 | IL4R | c.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) | |
| 16 | g.27362549G>C | CA395297945 | IL4R | c.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) | |
| 16 | g.27362549G>T | CA395297946 | IL4R | c.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) | |
| 16 | g.27362550G>A | CA395297947 | IL4R | c.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 |
| 16 | g.27362550G>C | CA395297948 | IL4R | c.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) | |
| 16 | g.27362550G>T | CA395297949 | IL4R | c.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) | |
| 16 | g.27362551A= | CA2215169464 | IL4R | c.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=) | |
| 16 | g.27362551A>C | CA7974510 | IL4R | c.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) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.27362551A>G | CA7974511 | IL4R | c.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 |
| 16 | g.27362551A>T | CA7974512 | IL4R | c.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 |
| 16 | g.27362552G>A | CA7974513 | IL4R | c.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 |
| 16 | g.27362552G>C | CA395297950 | IL4R | c.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) | |
| 16 | g.27362552G= | CA2215169468 | IL4R | c.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=) | |
| 16 | g.27362552G>T | CA395297951 | IL4R | c.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) | |
| 16 | g.27362552_27362568del | CA976015386 | IL4R | c.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 |
| 16 | g.27362553G>A | CA395297952 | IL4R | c.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) | |
| 16 | g.27362553G>C | CA395297953 | IL4R | c.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) | |
| 16 | g.27362553G>T | CA395297954 | IL4R | c.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) | |
| 16 | g.27362554G>A | CA279686499 | IL4R | c.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 |
| 16 | g.27362554G>C | CA395297956 | IL4R | c.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) | |
| 16 | g.27362554G= | CA2215169469 | IL4R | c.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=) | |
| 16 | g.27362554G>T | CA395297955 | IL4R | c.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) | |
| 16 | g.27362555C>A | CA494471001 | IL4R | c.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) | |
| 16 | g.27362555C>G | CA494471003 | IL4R | c.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) | |
| 16 | g.27362555C>T | CA494471005 | IL4R | c.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) | |
| 16 | g.27362555_27362558del | CA2575952893 | IL4R | c.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) | |
| 16 | g.27362556A>C | CA395297959 | IL4R | c.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) | |
| 16 | g.27362556A>G | CA395297957 | IL4R | c.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) | |
| 16 | g.27362556A>T | CA395297958 | IL4R | c.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) |