Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.27362555_27362560del | CA2842443275 | IL4R | c.1203_1208del (p.Ile402_Val403del) c.1158_1163del (p.Ile387_Val388del) c.230-1548_230-1543del (n.230-1548_230-1543del) c.*1246_*1251del (n.*1246_*1251del) c.723_728del (p.Ile242_Val243del) c.312_317del (p.Ile105_Val106del) c.252_257del (p.Ile85_Val86del) c.936_941del (p.Ile313_Val314del) c.906_911del (p.Ile303_Val304del) c.780_785del (p.Ile261_Val262del) c.*238_*243del (n.*238_*243del) | |
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) | |
16 | g.27362557T>A | CA395297960 | IL4R | c.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) | |
16 | g.27362557T>C | CA7974514 | IL4R | c.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 |
16 | g.27362557T>G | CA395297961 | IL4R | c.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) | |
16 | g.27362557T= | CA2215169470 | IL4R | c.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=) | |
16 | g.27362558T>A | CA494470333 | IL4R | c.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) | |
16 | g.27362558T>C | CA494470336 | IL4R | c.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 |
16 | g.27362558T>G | CA395297962 | IL4R | c.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) | |
16 | g.27362558T= | CA2215169475 | IL4R | c.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=) | |
16 | g.27362559G>A | CA395297963 | IL4R | c.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) | |
16 | g.27362559G>C | CA395297964 | IL4R | c.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) | |
16 | g.27362559G= | CA2215169478 | IL4R | c.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=) | |
16 | g.27362559G>T | CA395297965 | IL4R | c.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 |
16 | g.27362560T>A | CA395297966 | IL4R | c.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) | |
16 | g.27362560T>C | CA395297967 | IL4R | c.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) | |
16 | g.27362560T>G | CA395297968 | IL4R | c.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) | |
16 | g.27362561G>A | CA494470342 | IL4R | c.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) | |
16 | g.27362561G>C | CA494470343 | IL4R | c.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) | |
16 | g.27362561G>T | CA494470345 | IL4R | c.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) | |
16 | g.27362562G>A | CA279686502 | IL4R | c.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 |
16 | g.27362562G>C | CA395297969 | IL4R | c.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) | |
16 | g.27362562G= | CA2215169487 | IL4R | c.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=) | |
16 | g.27362562G>T | CA395297970 | IL4R | c.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) | |
16 | g.27362562_27362563insAG | CA2842443276 | IL4R | c.1210_1211insAG (p.Ala404GlufsTer4) c.1165_1166insAG (p.Ala389GlufsTer4) c.230-1541_230-1540insAG (n.230-1541_230-1540insAG) c.*1253_*1254insAG (n.*1253_*1254insAG) c.730_731insAG (p.Ala244GlufsTer4) c.319_320insAG (p.Ala107GlufsTer4) c.259_260insAG (p.Ala87GlufsTer4) c.943_944insAG (p.Ala315GlufsTer4) c.913_914insAG (p.Ala305GlufsTer4) c.787_788insAG (p.Ala263GlufsTer4) c.*245_*246insAG (n.*245_*246insAG) | |
16 | g.27362563C>A | CA395297971 | IL4R | c.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) | |
16 | g.27362563C= | CA2215169488 | IL4R | c.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=) | |
16 | g.27362563C>G | CA395297972 | IL4R | c.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 |
16 | g.27362563C>T | CA7974515 | IL4R | c.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 |
16 | g.27362564C>A | CA494470348 | IL4R | c.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) | |
16 | g.27362564C>G | CA494470349 | IL4R | c.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 |
16 | g.27362564C>T | CA494470351 | IL4R | c.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) | |
16 | g.27362565C>A | CA494470352 | IL4R | c.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) | |
16 | g.27362565C= | CA2215169492 | IL4R | c.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=) | |
16 | g.27362565C>G | CA395297973 | IL4R | c.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) | |
16 | g.27362565C>T | CA7974516 | IL4R | c.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 |
16 | g.27362566G>A | CA7974517 | IL4R | c.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 |
16 | g.27362566G>C | CA395297974 | IL4R | c.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) | |
16 | g.27362566G= | CA2215169493 | IL4R | c.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=) | |
16 | g.27362566G>T | CA395297975 | IL4R | c.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 |
16 | g.27362567G>A | CA7974518 | IL4R | c.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 |
16 | g.27362567G>C | CA494470360 | IL4R | c.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) | |
16 | g.27362567G= | CA2215169494 | IL4R | c.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=) | |
16 | g.27362567G>T | CA494470361 | IL4R | c.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) | |
16 | g.27362568C>A | CA395297976 | IL4R | c.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) | |
16 | g.27362568C>G | CA395297977 | IL4R | c.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) | |
16 | g.27362568C>T | CA494470363 | IL4R | c.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) | |
16 | g.27362569T>A | CA395297979 | IL4R | c.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) | |
16 | g.27362569T>C | CA395297980 | IL4R | c.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) | |
16 | g.27362569T>G | CA395297978 | IL4R | c.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) | |
16 | g.27362570A>C | CA494470367 | IL4R | c.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) | |
16 | g.27362570A>G | CA494470369 | IL4R | c.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 |
16 | g.27362570A>T | CA494470370 | IL4R | c.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) | |
16 | g.27362571A= | CA2215169495 | IL4R | c.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=) | |
16 | g.27362571A>C | CA395297981 | IL4R | c.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) | |
16 | g.27362571A>G | CA7974519 | IL4R | c.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 |
16 | g.27362571A>T | CA395297982 | IL4R | c.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) | |
16 | g.27362572C>A | CA395297983 | IL4R | c.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) | |
16 | g.27362572C= | CA2215169497 | IL4R | c.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=) | |
16 | g.27362572C>G | CA395297984 | IL4R | c.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) | |
16 | g.27362572C>T | CA395297985 | IL4R | c.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 |
16 | g.27362573A>C | CA494470372 | IL4R | c.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) | |
16 | g.27362573A>G | CA494470373 | IL4R | c.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) | |
16 | g.27362573A>T | CA494470374 | IL4R | c.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) | |
16 | g.27362574G>A | CA395297988 | IL4R | c.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 |
16 | g.27362574G>C | CA395297986 | IL4R | c.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) | |
16 | g.27362574G>T | CA395297987 | IL4R | c.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 |
16 | g.27362575A= | CA2215169499 | IL4R | c.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=) | |
16 | g.27362575A>C | CA395297992 | IL4R | c.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) | |
16 | g.27362575A>G | CA395297994 | IL4R | c.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 |
16 | g.27362575A>T | CA395297996 | IL4R | c.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) | |
16 | g.27362576G>A | CA494470379 | IL4R | c.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) | |
16 | g.27362576G>C | CA7974520 | IL4R | c.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 |
16 | g.27362576G= | CA2215169500 | IL4R | c.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=) | |
16 | g.27362576G>T | CA395298001 | IL4R | c.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) | |
16 | g.27362577A= | CA2215169502 | IL4R | c.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=) | |
16 | g.27362577A>C | CA395298003 | IL4R | c.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) | |
16 | g.27362577A>G | CA395298008 | IL4R | c.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 |
16 | g.27362577A>T | CA395298006 | IL4R | c.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) | |
16 | g.27362578G>A | CA395298010 | IL4R | c.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) | |
16 | g.27362578G>C | CA395298013 | IL4R | c.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) | |
16 | g.27362578G= | CA2215169504 | IL4R | c.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=) | |
16 | g.27362578G>T | CA279686535 | IL4R | c.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 |
16 | g.27362579C>A | CA395298017 | IL4R | c.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) | |
16 | g.27362579C>G | CA395298019 | IL4R | c.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) | |
16 | g.27362579C>T | CA494470383 | IL4R | c.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 |
16 | g.27362580C>A | CA395298022 | IL4R | c.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) | |
16 | g.27362580C>G | CA395298024 | IL4R | c.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) | |
16 | g.27362580C>T | CA494470385 | IL4R | c.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 |
16 | g.27362581T>A | CA395298027 | IL4R | c.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) | |
16 | g.27362581T>C | CA395298029 | IL4R | c.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) | |
16 | g.27362581T>G | CA395298030 | IL4R | c.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) | |
16 | g.27362582G>A | CA494470388 | IL4R | c.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) | |
16 | g.27362582G>C | CA494470389 | IL4R | c.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) | |
16 | g.27362582G>T | CA494470390 | IL4R | c.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) | |
16 | g.27362583T>A | CA395298033 | IL4R | c.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) | |
16 | g.27362583T>C | CA395298035 | IL4R | c.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) | |
16 | g.27362583T>G | CA395298037 | IL4R | c.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) | |
16 | g.27362584T>A | CA395298042 | IL4R | c.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) | |
16 | g.27362584T>C | CA395298045 | IL4R | c.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) | |
16 | g.27362584T>G | CA395298040 | IL4R | c.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) | |
16 | g.27362585C>A | CA395298047 | IL4R | c.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 |
16 | g.27362585C>G | CA395298049 | IL4R | c.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) | |
16 | g.27362585C>T | CA494470395 | IL4R | c.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) | |
16 | g.27362586del | CA2632431245 | IL4R | c.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 |
16 | g.27362586C>A | CA395298052 | IL4R | c.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) | |
16 | g.27362586C>G | CA395298054 | IL4R | c.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) | |
16 | g.27362586C>T | CA494470396 | IL4R | c.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) | |
16 | g.27362587T>A | CA395298056 | IL4R | c.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) | |
16 | g.27362587T>C | CA395298058 | IL4R | c.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 |
16 | g.27362587T>G | CA395298060 | IL4R | c.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) | |
16 | g.27362588G>A | CA494470404 | IL4R | c.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 |
16 | g.27362588G>C | CA494470405 | IL4R | c.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) | |
16 | g.27362588G= | CA2215169505 | IL4R | c.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=) | |
16 | g.27362588G>T | CA494470406 | IL4R | c.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) | |
16 | g.27362589G>A | CA395298063 | IL4R | c.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 |
16 | g.27362589G>C | CA395298065 | IL4R | c.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) | |
16 | g.27362589G>T | CA395298068 | IL4R | c.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 |
16 | g.27362590A>C | CA395298071 | IL4R | c.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) | |
16 | g.27362590A>G | CA395298073 | IL4R | c.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) | |
16 | g.27362590A>T | CA395298075 | IL4R | c.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) | |
16 | g.27362591C>A | CA395298077 | IL4R | c.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) | |
16 | g.27362591C>G | CA395298080 | IL4R | c.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) | |
16 | g.27362591C>T | CA494470411 | IL4R | c.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 |
16 | g.27362592C>A | CA395298081 | IL4R | c.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) | |
16 | g.27362592C= | CA2215169507 | IL4R | c.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=) | |
16 | g.27362592C>G | CA395298083 | IL4R | c.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) | |
16 | g.27362592C>T | CA494470412 | IL4R | c.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 |
16 | g.27362594_27362596del | CA2632431247 | IL4R | c.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 |
16 | g.27362593T>A | CA395298086 | IL4R | c.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) | |
16 | g.27362593T>C | CA395298088 | IL4R | c.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) | |
16 | g.27362593T>G | CA395298090 | IL4R | c.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) | |
16 | g.27362594G>A | CA494470415 | IL4R | c.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) | |
16 | g.27362594G>C | CA494470417 | IL4R | c.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) | |
16 | g.27362594G= | CA2215169509 | IL4R | c.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=) | |
16 | g.27362594G>T | CA7974521 | IL4R | c.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 |
16 | g.27362595C>A | CA395298095 | IL4R | c.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) | |
16 | g.27362595C= | CA2215169510 | IL4R | c.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=) | |
16 | g.27362595C>G | CA395298097 | IL4R | c.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 |
16 | g.27362595C>T | CA395298099 | IL4R | c.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 |
16 | g.27362596T>A | CA395298102 | IL4R | c.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) | |
16 | g.27362596T>C | CA395298107 | IL4R | c.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) | |
16 | g.27362596T>G | CA395298104 | IL4R | c.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) | |
16 | g.27362596dup | CA2838351762 | IL4R | c.1244dup (p.Gly416ArgfsTer?) c.1199dup (p.Gly401ArgfsTer?) c.230-1507dup (n.230-1507dup) c.*1287dup (n.*1287dup) c.764dup (p.Gly256ArgfsTer?) c.353dup (p.Gly119ArgfsTer?) c.293dup (p.Gly99ArgfsTer?) c.977dup (p.Gly327ArgfsTer?) c.947dup (p.Gly317ArgfsTer?) c.821dup (p.Gly275ArgfsTer?) c.*279dup (n.*279dup) | |
16 | g.27362597C>A | CA494470424 | IL4R | c.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 |
16 | g.27362597C= | CA2215169514 | IL4R | c.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=) | |
16 | g.27362597C>G | CA494470425 | IL4R | c.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) | |
16 | g.27362597C>T | CA7974522 | IL4R | c.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 |
16 | g.27362598G>A | CA7974523 | IL4R | c.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 |
16 | g.27362598G>C | CA395298114 | IL4R | c.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 |
16 | g.27362598G= | CA2215169516 | IL4R | c.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=) | |
16 | g.27362598G>T | CA395298115 | IL4R | c.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) | |
16 | g.27362599G>A | CA7974524 | IL4R | c.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 |
16 | g.27362599G>C | CA395298120 | IL4R | c.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) | |
16 | g.27362599G= | CA2215169521 | IL4R | c.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=) | |
16 | g.27362599G>T | CA395298118 | IL4R | c.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) | |
16 | g.27362600A= | CA2215169524 | IL4R | c.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=) | |
16 | g.27362600A>C | CA494470430 | IL4R | c.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) | |
16 | g.27362600A>G | CA7974525 | IL4R | c.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 |
16 | g.27362600A>T | CA494470431 | IL4R | c.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) | |
16 | g.27362600_27362603delinsAGAG | CA2215169525 | IL4R | c.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) | |
16 | g.27362601G>A | CA395298126 | IL4R | c.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) | |
16 | g.27362601G>C | CA395298128 | IL4R | c.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) | |
16 | g.27362601G>T | CA395298130 | IL4R | c.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) | |
16 | g.27362604_27362606del | CA2215169527 | IL4R | c.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 |
16 | g.27362602A>C | CA395298133 | IL4R | c.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) | |
16 | g.27362602A>G | CA395298135 | IL4R | c.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) | |
16 | g.27362602A>T | CA395298137 | IL4R | c.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) | |
16 | g.27362603G>A | CA494470435 | IL4R | c.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 |
16 | g.27362603G>C | CA395298139 | IL4R | c.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) | |
16 | g.27362603G>T | CA395298141 | IL4R | c.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) | |
16 | g.27362604G>A | CA395298143 | IL4R | c.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 |
16 | g.27362604G>C | CA395298145 | IL4R | c.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 |
16 | g.27362604G= | CA2215169528 | IL4R | c.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=) | |
16 | g.27362604G>T | CA395298147 | IL4R | c.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 |
16 | g.27362605A>C | CA395298151 | IL4R | c.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) | |
16 | g.27362605A>G | CA395298154 | IL4R | c.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) | |
16 | g.27362605A>T | CA395298150 | IL4R | c.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) | |
16 | g.27362606G>A | CA494470440 | IL4R | c.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 |
16 | g.27362606G>C | CA395298156 | IL4R | c.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) | |
16 | g.27362606G>T | CA395298158 | IL4R | c.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) | |
16 | g.27362607A>C | CA395298162 | IL4R | c.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) | |
16 | g.27362607A>G | CA395298164 | IL4R | c.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) | |
16 | g.27362607A>T | CA395298166 | IL4R | c.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) | |
16 | g.27362608A>C | CA395298174 | IL4R | c.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) | |
16 | g.27362608A>G | CA395298169 | IL4R | c.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) | |
16 | g.27362608A>T | CA395298171 | IL4R | c.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) | |
16 | g.27362609T>A | CA395298176 | IL4R | c.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) | |
16 | g.27362609T>C | CA494470442 | IL4R | c.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) | |
16 | g.27362609T>G | CA395298178 | IL4R | c.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) | |
16 | g.27362610G>A | CA395298181 | IL4R | c.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) | |
16 | g.27362610G>C | CA395298183 | IL4R | c.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 |
16 | g.27362610G= | CA2215169529 | IL4R | c.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=) | |
16 | g.27362610G>T | CA395298185 | IL4R | c.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) | |
16 | g.27362614dup | CA2832568000 | IL4R | c.1262dup (p.Phe422LeufsTer26) c.1217dup (p.Phe407LeufsTer26) c.230-1489dup (n.230-1489dup) c.*1305dup (n.*1305dup) c.782dup (p.Phe262LeufsTer26) c.371dup (p.Phe125LeufsTer26) c.311dup (p.Phe105LeufsTer26) c.995dup (p.Phe333LeufsTer26) c.965dup (p.Phe323LeufsTer26) c.839dup (p.Phe281LeufsTer26) c.*297dup (n.*297dup) | |
16 | g.27362614del | CA2632431249 | IL4R | c.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 |
16 | g.27362611G>A | CA395298189 | IL4R | c.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) | |
16 | g.27362611G>C | CA395298192 | IL4R | c.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) | |
16 | g.27362611G>T | CA395298190 | IL4R | c.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) | |
16 | g.27362612G>A | CA494470450 | IL4R | c.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 |
16 | g.27362612G>C | CA494470444 | IL4R | c.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) | |
16 | g.27362612G= | CA2215169532 | IL4R | c.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=) | |
16 | g.27362612G>T | CA7974526 | IL4R | c.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 |
16 | g.27362613G>A | CA395298200 | IL4R | c.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 |
16 | g.27362613G>C | CA395298196 | IL4R | c.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) | |
16 | g.27362613G= | CA2215169535 | IL4R | c.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=) | |
16 | g.27362613G>T | CA395298197 | IL4R | c.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) | |
16 | g.27362614G>A | CA395298202 | IL4R | c.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) | |
16 | g.27362614G>C | CA395298204 | IL4R | c.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) | |
16 | g.27362614G>T | CA395298206 | IL4R | c.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) | |
16 | g.27362615C>A | CA494470455 | IL4R | c.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) | |
16 | g.27362615C>G | CA494470456 | IL4R | c.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) | |
16 | g.27362615C>T | CA494470457 | IL4R | c.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) | |
16 | g.27362616T>A | CA395298208 | IL4R | c.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) | |
16 | g.27362616T>C | CA395298210 | IL4R | c.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) | |
16 | g.27362616T>G | CA395298212 | IL4R | c.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) | |
16 | g.27362617T>A | CA395298215 | IL4R | c.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) | |
16 | g.27362617T>C | CA395298216 | IL4R | c.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) | |
16 | g.27362617T>G | CA395298218 | IL4R | c.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) | |
16 | g.27362618T>A | CA395298221 | IL4R | c.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) | |
16 | g.27362618T>C | CA494470462 | IL4R | c.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) | |
16 | g.27362618T>G | CA395298222 | IL4R | c.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) | |
16 | g.27362619T>A | CA395298225 | IL4R | c.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) | |
16 | g.27362619T>C | CA395298226 | IL4R | c.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) | |
16 | g.27362619T>G | CA7974527 | IL4R | c.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 |
16 | g.27362619T= | CA2215169537 | IL4R | c.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=) | |
16 | g.27362620G>A | CA395298229 | IL4R | c.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) | |
16 | g.27362620G>C | CA395298231 | IL4R | c.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) | |
16 | g.27362620G>T | CA395298233 | IL4R | c.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) | |
16 | g.27362621C>A | CA395298237 | IL4R | c.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) | |
16 | g.27362621C= | CA2215169541 | IL4R | c.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=) | |
16 | g.27362621C>G | CA395298239 | IL4R | c.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) | |
16 | g.27362621C>T | CA494470467 | IL4R | c.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 |
16 | g.27362622C>A | CA395298242 | IL4R | c.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) | |
16 | g.27362622C>G | CA395298244 | IL4R | c.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) | |
16 | g.27362622C>T | CA395298246 | IL4R | c.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) | |
16 | g.27362623A>C | CA395298248 | IL4R | c.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) | |
16 | g.27362623A>G | CA395298250 | IL4R | c.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 |
16 | g.27362623A>T | CA395298252 | IL4R | c.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) | |
16 | g.27362624G>A | CA279686553 | IL4R | c.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 |
16 | g.27362624G>C | CA395298257 | IL4R | c.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) | |
16 | g.27362624G= | CA2215169543 | IL4R | c.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=) | |
16 | g.27362624G>T | CA395298255 | IL4R | c.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) | |
16 | g.27362625C>A | CA395298260 | IL4R | c.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) | |
16 | g.27362625C>G | CA395298262 | IL4R | c.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) | |
16 | g.27362625C>T | CA395298264 | IL4R | c.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) | |
16 | g.27362626A>C | CA395298267 | IL4R | c.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) | |
16 | g.27362626A>G | CA395298269 | IL4R | c.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 |
16 | g.27362626A>T | CA395298271 | IL4R | c.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) | |
16 | g.27362627G>A | CA494470485 | IL4R | c.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) | |
16 | g.27362627G>C | CA395298274 | IL4R | c.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) | |
16 | g.27362627G>T | CA395298275 | IL4R | c.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) | |
16 | g.27362628G>A | CA395298278 | IL4R | c.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 |
16 | g.27362628G>C | CA395298280 | IL4R | c.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 |
16 | g.27362628G= | CA2215169546 | IL4R | c.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=) | |
16 | g.27362628G>T | CA395298282 | IL4R | c.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 |
16 | g.27362629A= | CA2215169549 | IL4R | c.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=) | |
16 | g.27362629A>C | CA395298284 | IL4R | c.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 |
16 | g.27362629A>G | CA395298286 | IL4R | c.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) | |
16 | g.27362629A>T | CA395298289 | IL4R | c.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 |
16 | g.27362630C>A | CA395298292 | IL4R | c.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) | |
16 | g.27362630C= | CA2215169557 | IL4R | c.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=) | |
16 | g.27362630C>G | CA395298293 | IL4R | c.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) | |
16 | g.27362630C>T | CA494470489 | IL4R | c.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 |
16 | g.27362631A= | CA2215169558 | IL4R | c.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=) | |
16 | g.27362631A>C | CA395298295 | IL4R | c.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) | |
16 | g.27362631A>G | CA395298296 | IL4R | c.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 |
16 | g.27362631A>T | CA395298299 | IL4R | c.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) | |
16 | g.27362632T>A | CA395298301 | IL4R | c.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) | |
16 | g.27362632T>C | CA395298303 | IL4R | c.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 |
16 | g.27362632T>G | CA395298306 | IL4R | c.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) | |
16 | g.27362632T= | CA2215169559 | IL4R | c.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=) | |
16 | g.27362633G>A | CA395298309 | IL4R | c.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) | |
16 | g.27362633G>C | CA395298311 | IL4R | c.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) | |
16 | g.27362633G= | CA2215169561 | IL4R | c.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=) | |
16 | g.27362633G>T | CA395298313 | IL4R | c.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 |
16 | g.27362637del | CA2839157488 | IL4R | c.1285del (p.Glu429SerfsTer?) c.1240del (p.Glu414SerfsTer?) c.230-1466del (n.230-1466del) c.*1328del (n.*1328del) c.805del (p.Glu269SerfsTer?) c.394del (p.Glu132SerfsTer?) c.334del (p.Glu112SerfsTer?) c.1018del (p.Glu340SerfsTer?) c.988del (p.Glu330SerfsTer?) c.862del (p.Glu288SerfsTer?) c.*320del (n.*320del) | |
16 | g.27362634G>A | CA395298317 | IL4R | c.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) | |
16 | g.27362634G>C | CA395298319 | IL4R | c.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) | |
16 | g.27362634G>T | CA395298321 | IL4R | c.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) | |
16 | g.27362635G>A | CA395298328 | IL4R | c.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 |
16 | g.27362635G>C | CA395298327 | IL4R | c.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) | |
16 | g.27362635G= | CA2215169563 | IL4R | c.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=) | |
16 | g.27362635G>T | CA395298325 | IL4R | c.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) | |
16 | g.27362636G>A | CA494470504 | IL4R | c.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 |
16 | g.27362636G>C | CA494470505 | IL4R | c.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) | |
16 | g.27362636G= | CA2215169564 | IL4R | c.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=) | |
16 | g.27362636G>T | CA7974528 | IL4R | c.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 |
16 | g.27362637G>A | CA7974529 | IL4R | c.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 |
16 | g.27362637G>C | CA395298333 | IL4R | c.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) | |
16 | g.27362637G= | CA2215169565 | IL4R | c.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=) | |
16 | g.27362637G>T | CA395298336 | IL4R | c.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) | |
16 | g.27362638A>C | CA395298338 | IL4R | c.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) | |
16 | g.27362638A>G | CA395298340 | IL4R | c.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) | |
16 | g.27362638A>T | CA395298342 | IL4R | c.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) | |
16 | g.27362639G>A | CA494470509 | IL4R | c.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) | |
16 | g.27362639G>C | CA395298344 | IL4R | c.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 |
16 | g.27362639G>T | CA395298346 | IL4R | c.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) | |
16 | g.27362640T>A | CA395298349 | IL4R | c.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) | |
16 | g.27362640T>C | CA395298351 | IL4R | c.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 |
16 | g.27362640T>G | CA395298353 | IL4R | c.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 |
16 | g.27362640T= | CA2215169566 | IL4R | c.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=) | |
16 | g.27362641C>A | CA395298355 | IL4R | c.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) | |
16 | g.27362641C>G | CA395298357 | IL4R | c.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) | |
16 | g.27362641C>T | CA395298359 | IL4R | c.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) | |
16 | g.27362642A>C | CA494470513 | IL4R | c.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) | |
16 | g.27362642A>G | CA494470514 | IL4R | c.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 |
16 | g.27362642A>T | CA494470515 | IL4R | c.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) | |
16 | g.27362643T>A | CA395298365 | IL4R | c.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) | |
16 | g.27362643T>C | CA7974530 | IL4R | c.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 |
16 | g.27362643T>G | CA395298361 | IL4R | c.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) | |
16 | g.27362643T= | CA2215169569 | IL4R | c.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=) | |
16 | g.27362644G>A | CA395298368 | IL4R | c.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) | |
16 | g.27362644G>C | CA395298370 | IL4R | c.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) | |
16 | g.27362644G>T | CA395298372 | IL4R | c.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) | |
16 | g.27362645C>A | CA395298379 | IL4R | c.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) | |
16 | g.27362645C= | CA2215169571 | IL4R | c.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=) | |
16 | g.27362645C>G | CA395298380 | IL4R | c.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) | |
16 | g.27362645C>T | CA7974531 | IL4R | c.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 |
16 | g.27362645_27362648delinsCCTT | CA2215169572 | IL4R | c.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) | |
16 | g.27362646C>A | CA395298386 | IL4R | c.1294C>A (p.Leu432Ile) c.1249C>A (p.Leu417Ile) c.230-1457C>A (n.230-1457C>A) c.*1337C>A (n.*1337C>A) c.814C>A (p.Leu272Ile) c.403C>A (p.Leu135Ile) c.343C>A (p.Leu115Ile) c.1027C>A (p.Leu343Ile) c.997C>A (p.Leu333Ile) c.871C>A (p.Leu291Ile) c.*329C>A (n.*329C>A) | |
16 | g.27362646C= | CA2215169573 | IL4R | c.1294C= (p.Leu432=) c.1249C= (p.Leu417=) c.230-1457C= (n.230-1457C=) c.*1337C= (n.*1337C=) c.814C= (p.Leu272=) c.403C= (p.Leu135=) c.343C= (p.Leu115=) c.1027C= (p.Leu343=) c.997C= (p.Leu333=) c.871C= (p.Leu291=) c.*329C= (n.*329C=) | |
16 | g.27362646C>G | CA395298388 | IL4R | c.1294C>G (p.Leu432Val) c.1249C>G (p.Leu417Val) c.230-1457C>G (n.230-1457C>G) c.*1337C>G (n.*1337C>G) c.814C>G (p.Leu272Val) c.403C>G (p.Leu135Val) c.343C>G (p.Leu115Val) c.1027C>G (p.Leu343Val) c.997C>G (p.Leu333Val) c.871C>G (p.Leu291Val) c.*329C>G (n.*329C>G) | |
16 | g.27362646C>T | CA7974532 | IL4R | c.1294C>T (p.Leu432Phe) c.1249C>T (p.Leu417Phe) c.230-1457C>T (n.230-1457C>T) c.*1337C>T (n.*1337C>T) c.814C>T (p.Leu272Phe) c.403C>T (p.Leu135Phe) c.343C>T (p.Leu115Phe) c.1027C>T (p.Leu343Phe) c.997C>T (p.Leu333Phe) c.871C>T (p.Leu291Phe) c.*329C>T (n.*329C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362650_27362652del | CA719576827 | IL4R | c.1298_1300del (p.Leu433del) c.1253_1255del (p.Leu418del) c.230-1453_230-1451del (n.230-1453_230-1451del) c.*1341_*1343del (n.*1341_*1343del) c.818_820del (p.Leu273del) c.407_409del (p.Leu136del) c.347_349del (p.Leu116del) c.1031_1033del (p.Leu344del) c.1001_1003del (p.Leu334del) c.875_877del (p.Leu292del) c.*333_*335del (n.*333_*335del) | dbSNP |
16 | g.27362647T>A | CA395298391 | IL4R | c.1295T>A (p.Leu432His) c.1250T>A (p.Leu417His) c.230-1456T>A (n.230-1456T>A) c.*1338T>A (n.*1338T>A) c.815T>A (p.Leu272His) c.404T>A (p.Leu135His) c.344T>A (p.Leu115His) c.1028T>A (p.Leu343His) c.998T>A (p.Leu333His) c.872T>A (p.Leu291His) c.*330T>A (n.*330T>A) | |
16 | g.27362647T>C | CA395298393 | IL4R | c.1295T>C (p.Leu432Pro) c.1250T>C (p.Leu417Pro) c.230-1456T>C (n.230-1456T>C) c.*1338T>C (n.*1338T>C) c.815T>C (p.Leu272Pro) c.404T>C (p.Leu135Pro) c.344T>C (p.Leu115Pro) c.1028T>C (p.Leu343Pro) c.998T>C (p.Leu333Pro) c.872T>C (p.Leu291Pro) c.*330T>C (n.*330T>C) | |
16 | g.27362647T>G | CA395298394 | IL4R | c.1295T>G (p.Leu432Arg) c.1250T>G (p.Leu417Arg) c.230-1456T>G (n.230-1456T>G) c.*1338T>G (n.*1338T>G) c.815T>G (p.Leu272Arg) c.404T>G (p.Leu135Arg) c.344T>G (p.Leu115Arg) c.1028T>G (p.Leu343Arg) c.998T>G (p.Leu333Arg) c.872T>G (p.Leu291Arg) c.*330T>G (n.*330T>G) | |
16 | g.27362648T>A | CA494470520 | IL4R | c.1296T>A (p.Leu432=) c.1251T>A (p.Leu417=) c.230-1455T>A (n.230-1455T>A) c.*1339T>A (n.*1339T>A) c.816T>A (p.Leu272=) c.405T>A (p.Leu135=) c.345T>A (p.Leu115=) c.1029T>A (p.Leu343=) c.999T>A (p.Leu333=) c.873T>A (p.Leu291=) c.*331T>A (n.*331T>A) | |
16 | g.27362648T>C | CA279686581 | IL4R | c.1296T>C (p.Leu432=) c.1251T>C (p.Leu417=) c.230-1455T>C (n.230-1455T>C) c.*1339T>C (n.*1339T>C) c.816T>C (p.Leu272=) c.405T>C (p.Leu135=) c.345T>C (p.Leu115=) c.1029T>C (p.Leu343=) c.999T>C (p.Leu333=) c.873T>C (p.Leu291=) c.*331T>C (n.*331T>C) | dbSNP |
16 | g.27362648T>G | CA494470519 | IL4R | c.1296T>G (p.Leu432=) c.1251T>G (p.Leu417=) c.230-1455T>G (n.230-1455T>G) c.*1339T>G (n.*1339T>G) c.816T>G (p.Leu272=) c.405T>G (p.Leu135=) c.345T>G (p.Leu115=) c.1029T>G (p.Leu343=) c.999T>G (p.Leu333=) c.873T>G (p.Leu291=) c.*331T>G (n.*331T>G) | |
16 | g.27362648T= | CA2215169578 | IL4R | c.1296T= (p.Leu432=) c.1251T= (p.Leu417=) c.230-1455T= (n.230-1455T=) c.*1339T= (n.*1339T=) c.816T= (p.Leu272=) c.405T= (p.Leu135=) c.345T= (p.Leu115=) c.1029T= (p.Leu343=) c.999T= (p.Leu333=) c.873T= (p.Leu291=) c.*331T= (n.*331T=) | |
16 | g.27362649C>A | CA395298402 | IL4R | c.1297C>A (p.Leu433Ile) c.1252C>A (p.Leu418Ile) c.230-1454C>A (n.230-1454C>A) c.*1340C>A (n.*1340C>A) c.817C>A (p.Leu273Ile) c.406C>A (p.Leu136Ile) c.346C>A (p.Leu116Ile) c.1030C>A (p.Leu344Ile) c.1000C>A (p.Leu334Ile) c.874C>A (p.Leu292Ile) c.*332C>A (n.*332C>A) | |
16 | g.27362649C>G | CA395298399 | IL4R | c.1297C>G (p.Leu433Val) c.1252C>G (p.Leu418Val) c.230-1454C>G (n.230-1454C>G) c.*1340C>G (n.*1340C>G) c.817C>G (p.Leu273Val) c.406C>G (p.Leu136Val) c.346C>G (p.Leu116Val) c.1030C>G (p.Leu344Val) c.1000C>G (p.Leu334Val) c.874C>G (p.Leu292Val) c.*332C>G (n.*332C>G) | |
16 | g.27362649C>T | CA395298397 | IL4R | c.1297C>T (p.Leu433Phe) c.1252C>T (p.Leu418Phe) c.230-1454C>T (n.230-1454C>T) c.*1340C>T (n.*1340C>T) c.817C>T (p.Leu273Phe) c.406C>T (p.Leu136Phe) c.346C>T (p.Leu116Phe) c.1030C>T (p.Leu344Phe) c.1000C>T (p.Leu334Phe) c.874C>T (p.Leu292Phe) c.*332C>T (n.*332C>T) | |
16 | g.27362650T>A | CA395298408 | IL4R | c.1298T>A (p.Leu433His) c.1253T>A (p.Leu418His) c.230-1453T>A (n.230-1453T>A) c.*1341T>A (n.*1341T>A) c.818T>A (p.Leu273His) c.407T>A (p.Leu136His) c.347T>A (p.Leu116His) c.1031T>A (p.Leu344His) c.1001T>A (p.Leu334His) c.875T>A (p.Leu292His) c.*333T>A (n.*333T>A) | |
16 | g.27362650T>C | CA279686587 | IL4R | c.1298T>C (p.Leu433Pro) c.1253T>C (p.Leu418Pro) c.230-1453T>C (n.230-1453T>C) c.*1341T>C (n.*1341T>C) c.818T>C (p.Leu273Pro) c.407T>C (p.Leu136Pro) c.347T>C (p.Leu116Pro) c.1031T>C (p.Leu344Pro) c.1001T>C (p.Leu334Pro) c.875T>C (p.Leu292Pro) c.*333T>C (n.*333T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362650T>G | CA395298407 | IL4R | c.1298T>G (p.Leu433Arg) c.1253T>G (p.Leu418Arg) c.230-1453T>G (n.230-1453T>G) c.*1341T>G (n.*1341T>G) c.818T>G (p.Leu273Arg) c.407T>G (p.Leu136Arg) c.347T>G (p.Leu116Arg) c.1031T>G (p.Leu344Arg) c.1001T>G (p.Leu334Arg) c.875T>G (p.Leu292Arg) c.*333T>G (n.*333T>G) | |
16 | g.27362650T= | CA2215169582 | IL4R | c.1298T= (p.Leu433=) c.1253T= (p.Leu418=) c.230-1453T= (n.230-1453T=) c.*1341T= (n.*1341T=) c.818T= (p.Leu273=) c.407T= (p.Leu136=) c.347T= (p.Leu116=) c.1031T= (p.Leu344=) c.1001T= (p.Leu334=) c.875T= (p.Leu292=) c.*333T= (n.*333T=) | |
16 | g.27362651T>A | CA494470521 | IL4R | c.1299T>A (p.Leu433=) c.1254T>A (p.Leu418=) c.230-1452T>A (n.230-1452T>A) c.*1342T>A (n.*1342T>A) c.819T>A (p.Leu273=) c.408T>A (p.Leu136=) c.348T>A (p.Leu116=) c.1032T>A (p.Leu344=) c.1002T>A (p.Leu334=) c.876T>A (p.Leu292=) c.*334T>A (n.*334T>A) | |
16 | g.27362651T>C | CA7974533 | IL4R | c.1299T>C (p.Leu433=) c.1254T>C (p.Leu418=) c.230-1452T>C (n.230-1452T>C) c.*1342T>C (n.*1342T>C) c.819T>C (p.Leu273=) c.408T>C (p.Leu136=) c.348T>C (p.Leu116=) c.1032T>C (p.Leu344=) c.1002T>C (p.Leu334=) c.876T>C (p.Leu292=) c.*334T>C (n.*334T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362651T>G | CA494470522 | IL4R | c.1299T>G (p.Leu433=) c.1254T>G (p.Leu418=) c.230-1452T>G (n.230-1452T>G) c.*1342T>G (n.*1342T>G) c.819T>G (p.Leu273=) c.408T>G (p.Leu136=) c.348T>G (p.Leu116=) c.1032T>G (p.Leu344=) c.1002T>G (p.Leu334=) c.876T>G (p.Leu292=) c.*334T>G (n.*334T>G) | |
16 | g.27362651T= | CA2215169588 | IL4R | c.1299T= (p.Leu433=) c.1254T= (p.Leu418=) c.230-1452T= (n.230-1452T=) c.*1342T= (n.*1342T=) c.819T= (p.Leu273=) c.408T= (p.Leu136=) c.348T= (p.Leu116=) c.1032T= (p.Leu344=) c.1002T= (p.Leu334=) c.876T= (p.Leu292=) c.*334T= (n.*334T=) | |
16 | g.27362652C>A | CA395298412 | IL4R | c.1300C>A (p.Pro434Thr) c.1255C>A (p.Pro419Thr) c.230-1451C>A (n.230-1451C>A) c.*1343C>A (n.*1343C>A) c.820C>A (p.Pro274Thr) c.409C>A (p.Pro137Thr) c.349C>A (p.Pro117Thr) c.1033C>A (p.Pro345Thr) c.1003C>A (p.Pro335Thr) c.877C>A (p.Pro293Thr) c.*335C>A (n.*335C>A) | |
16 | g.27362652C>G | CA395298414 | IL4R | c.1300C>G (p.Pro434Ala) c.1255C>G (p.Pro419Ala) c.230-1451C>G (n.230-1451C>G) c.*1343C>G (n.*1343C>G) c.820C>G (p.Pro274Ala) c.409C>G (p.Pro137Ala) c.349C>G (p.Pro117Ala) c.1033C>G (p.Pro345Ala) c.1003C>G (p.Pro335Ala) c.877C>G (p.Pro293Ala) c.*335C>G (n.*335C>G) | |
16 | g.27362652C>T | CA395298416 | IL4R | c.1300C>T (p.Pro434Ser) c.1255C>T (p.Pro419Ser) c.230-1451C>T (n.230-1451C>T) c.*1343C>T (n.*1343C>T) c.820C>T (p.Pro274Ser) c.409C>T (p.Pro137Ser) c.349C>T (p.Pro117Ser) c.1033C>T (p.Pro345Ser) c.1003C>T (p.Pro335Ser) c.877C>T (p.Pro293Ser) c.*335C>T (n.*335C>T) | gnomAD v4 |