Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.27362700A>C | CA395298669 | IL4R | c.1348A>C (p.Ser450Arg) c.1303A>C (p.Ser435Arg) c.230-1403A>C (n.230-1403A>C) c.*1391A>C (n.*1391A>C) c.868A>C (p.Ser290Arg) c.457A>C (p.Ser153Arg) c.397A>C (p.Ser133Arg) c.1081A>C (p.Ser361Arg) c.1051A>C (p.Ser351Arg) c.925A>C (p.Ser309Arg) c.*383A>C (n.*383A>C) | |
16 | g.27362700A>G | CA395298670 | IL4R | c.1348A>G (p.Ser450Gly) c.1303A>G (p.Ser435Gly) c.230-1403A>G (n.230-1403A>G) c.*1391A>G (n.*1391A>G) c.868A>G (p.Ser290Gly) c.457A>G (p.Ser153Gly) c.397A>G (p.Ser133Gly) c.1081A>G (p.Ser361Gly) c.1051A>G (p.Ser351Gly) c.925A>G (p.Ser309Gly) c.*383A>G (n.*383A>G) | |
16 | g.27362700A>T | CA395298672 | IL4R | c.1348A>T (p.Ser450Cys) c.1303A>T (p.Ser435Cys) c.230-1403A>T (n.230-1403A>T) c.*1391A>T (n.*1391A>T) c.868A>T (p.Ser290Cys) c.457A>T (p.Ser153Cys) c.397A>T (p.Ser133Cys) c.1081A>T (p.Ser361Cys) c.1051A>T (p.Ser351Cys) c.925A>T (p.Ser309Cys) c.*383A>T (n.*383A>T) | |
16 | g.27362701G>A | CA395298676 | IL4R | c.1349G>A (p.Ser450Asn) c.1304G>A (p.Ser435Asn) c.230-1402G>A (n.230-1402G>A) c.*1392G>A (n.*1392G>A) c.869G>A (p.Ser290Asn) c.458G>A (p.Ser153Asn) c.398G>A (p.Ser133Asn) c.1082G>A (p.Ser361Asn) c.1052G>A (p.Ser351Asn) c.926G>A (p.Ser309Asn) c.*384G>A (n.*384G>A) | |
16 | g.27362701G>C | CA395298674 | IL4R | c.1349G>C (p.Ser450Thr) c.1304G>C (p.Ser435Thr) c.230-1402G>C (n.230-1402G>C) c.*1392G>C (n.*1392G>C) c.869G>C (p.Ser290Thr) c.458G>C (p.Ser153Thr) c.398G>C (p.Ser133Thr) c.1082G>C (p.Ser361Thr) c.1052G>C (p.Ser351Thr) c.926G>C (p.Ser309Thr) c.*384G>C (n.*384G>C) | dbSNP |
16 | g.27362701G= | CA2215169648 | IL4R | c.1349G= (p.Ser450=) c.1304G= (p.Ser435=) c.230-1402G= (n.230-1402G=) c.*1392G= (n.*1392G=) c.869G= (p.Ser290=) c.458G= (p.Ser153=) c.398G= (p.Ser133=) c.1082G= (p.Ser361=) c.1052G= (p.Ser351=) c.926G= (p.Ser309=) c.*384G= (n.*384G=) | |
16 | g.27362701G>T | CA395298673 | IL4R | c.1349G>T (p.Ser450Ile) c.1304G>T (p.Ser435Ile) c.230-1402G>T (n.230-1402G>T) c.*1392G>T (n.*1392G>T) c.869G>T (p.Ser290Ile) c.458G>T (p.Ser153Ile) c.398G>T (p.Ser133Ile) c.1082G>T (p.Ser361Ile) c.1052G>T (p.Ser351Ile) c.926G>T (p.Ser309Ile) c.*384G>T (n.*384G>T) | |
16 | g.27362702T>A | CA395298678 | IL4R | c.1350T>A (p.Ser450Arg) c.1305T>A (p.Ser435Arg) c.230-1401T>A (n.230-1401T>A) c.*1393T>A (n.*1393T>A) c.870T>A (p.Ser290Arg) c.459T>A (p.Ser153Arg) c.399T>A (p.Ser133Arg) c.1083T>A (p.Ser361Arg) c.1053T>A (p.Ser351Arg) c.927T>A (p.Ser309Arg) c.*385T>A (n.*385T>A) | |
16 | g.27362702T>C | CA494470551 | IL4R | c.1350T>C (p.Ser450=) c.1305T>C (p.Ser435=) c.230-1401T>C (n.230-1401T>C) c.*1393T>C (n.*1393T>C) c.870T>C (p.Ser290=) c.459T>C (p.Ser153=) c.399T>C (p.Ser133=) c.1083T>C (p.Ser361=) c.1053T>C (p.Ser351=) c.927T>C (p.Ser309=) c.*385T>C (n.*385T>C) | dbSNP |
16 | g.27362702T>G | CA395298679 | IL4R | c.1350T>G (p.Ser450Arg) c.1305T>G (p.Ser435Arg) c.230-1401T>G (n.230-1401T>G) c.*1393T>G (n.*1393T>G) c.870T>G (p.Ser290Arg) c.459T>G (p.Ser153Arg) c.399T>G (p.Ser133Arg) c.1083T>G (p.Ser361Arg) c.1053T>G (p.Ser351Arg) c.927T>G (p.Ser309Arg) c.*385T>G (n.*385T>G) | |
16 | g.27362702T= | CA2215169650 | IL4R | c.1350T= (p.Ser450=) c.1305T= (p.Ser435=) c.230-1401T= (n.230-1401T=) c.*1393T= (n.*1393T=) c.870T= (p.Ser290=) c.459T= (p.Ser153=) c.399T= (p.Ser133=) c.1083T= (p.Ser361=) c.1053T= (p.Ser351=) c.927T= (p.Ser309=) c.*385T= (n.*385T=) | |
16 | g.27362703G>A | CA395298683 | IL4R | c.1351G>A (p.Ala451Thr) c.1306G>A (p.Ala436Thr) c.230-1400G>A (n.230-1400G>A) c.*1394G>A (n.*1394G>A) c.871G>A (p.Ala291Thr) c.460G>A (p.Ala154Thr) c.400G>A (p.Ala134Thr) c.1084G>A (p.Ala362Thr) c.1054G>A (p.Ala352Thr) c.928G>A (p.Ala310Thr) c.*386G>A (n.*386G>A) | |
16 | g.27362703G>C | CA395298686 | IL4R | c.1351G>C (p.Ala451Pro) c.1306G>C (p.Ala436Pro) c.230-1400G>C (n.230-1400G>C) c.*1394G>C (n.*1394G>C) c.871G>C (p.Ala291Pro) c.460G>C (p.Ala154Pro) c.400G>C (p.Ala134Pro) c.1084G>C (p.Ala362Pro) c.1054G>C (p.Ala352Pro) c.928G>C (p.Ala310Pro) c.*386G>C (n.*386G>C) | |
16 | g.27362703G>T | CA395298688 | IL4R | c.1351G>T (p.Ala451Ser) c.1306G>T (p.Ala436Ser) c.230-1400G>T (n.230-1400G>T) c.*1394G>T (n.*1394G>T) c.871G>T (p.Ala291Ser) c.460G>T (p.Ala154Ser) c.400G>T (p.Ala134Ser) c.1084G>T (p.Ala362Ser) c.1054G>T (p.Ala352Ser) c.928G>T (p.Ala310Ser) c.*386G>T (n.*386G>T) | |
16 | g.27362704C>A | CA395298690 | IL4R | c.1352C>A (p.Ala451Glu) c.1307C>A (p.Ala436Glu) c.230-1399C>A (n.230-1399C>A) c.*1395C>A (n.*1395C>A) c.872C>A (p.Ala291Glu) c.461C>A (p.Ala154Glu) c.401C>A (p.Ala134Glu) c.1085C>A (p.Ala362Glu) c.1055C>A (p.Ala352Glu) c.929C>A (p.Ala310Glu) c.*387C>A (n.*387C>A) | |
16 | g.27362704C>G | CA395298692 | IL4R | c.1352C>G (p.Ala451Gly) c.1307C>G (p.Ala436Gly) c.230-1399C>G (n.230-1399C>G) c.*1395C>G (n.*1395C>G) c.872C>G (p.Ala291Gly) c.461C>G (p.Ala154Gly) c.401C>G (p.Ala134Gly) c.1085C>G (p.Ala362Gly) c.1055C>G (p.Ala352Gly) c.929C>G (p.Ala310Gly) c.*387C>G (n.*387C>G) | |
16 | g.27362704C>T | CA395298694 | IL4R | c.1352C>T (p.Ala451Val) c.1307C>T (p.Ala436Val) c.230-1399C>T (n.230-1399C>T) c.*1395C>T (n.*1395C>T) c.872C>T (p.Ala291Val) c.461C>T (p.Ala154Val) c.401C>T (p.Ala134Val) c.1085C>T (p.Ala362Val) c.1055C>T (p.Ala352Val) c.929C>T (p.Ala310Val) c.*387C>T (n.*387C>T) | |
16 | g.27362705A= | CA2215169653 | IL4R | c.1353A= (p.Ala451=) c.1308A= (p.Ala436=) c.230-1398A= (n.230-1398A=) c.*1396A= (n.*1396A=) c.873A= (p.Ala291=) c.462A= (p.Ala154=) c.402A= (p.Ala134=) c.1086A= (p.Ala362=) c.1056A= (p.Ala352=) c.930A= (p.Ala310=) c.*388A= (n.*388A=) | |
16 | g.27362705A>C | CA494470552 | IL4R | c.1353A>C (p.Ala451=) c.1308A>C (p.Ala436=) c.230-1398A>C (n.230-1398A>C) c.*1396A>C (n.*1396A>C) c.873A>C (p.Ala291=) c.462A>C (p.Ala154=) c.402A>C (p.Ala134=) c.1086A>C (p.Ala362=) c.1056A>C (p.Ala352=) c.930A>C (p.Ala310=) c.*388A>C (n.*388A>C) | dbSNP |
16 | g.27362705A>G | CA494470553 | IL4R | c.1353A>G (p.Ala451=) c.1308A>G (p.Ala436=) c.230-1398A>G (n.230-1398A>G) c.*1396A>G (n.*1396A>G) c.873A>G (p.Ala291=) c.462A>G (p.Ala154=) c.402A>G (p.Ala134=) c.1086A>G (p.Ala362=) c.1056A>G (p.Ala352=) c.930A>G (p.Ala310=) c.*388A>G (n.*388A>G) | |
16 | g.27362705A>T | CA494470554 | IL4R | c.1353A>T (p.Ala451=) c.1308A>T (p.Ala436=) c.230-1398A>T (n.230-1398A>T) c.*1396A>T (n.*1396A>T) c.873A>T (p.Ala291=) c.462A>T (p.Ala154=) c.402A>T (p.Ala134=) c.1086A>T (p.Ala362=) c.1056A>T (p.Ala352=) c.930A>T (p.Ala310=) c.*388A>T (n.*388A>T) | |
16 | g.27362706G>A | CA395298696 | IL4R | c.1354G>A (p.Gly452Arg) c.1309G>A (p.Gly437Arg) c.230-1397G>A (n.230-1397G>A) c.*1397G>A (n.*1397G>A) c.874G>A (p.Gly292Arg) c.463G>A (p.Gly155Arg) c.403G>A (p.Gly135Arg) c.1087G>A (p.Gly363Arg) c.1057G>A (p.Gly353Arg) c.931G>A (p.Gly311Arg) c.*389G>A (n.*389G>A) | gnomAD v4 |
16 | g.27362706G>C | CA395298700 | IL4R | c.1354G>C (p.Gly452Arg) c.1309G>C (p.Gly437Arg) c.230-1397G>C (n.230-1397G>C) c.*1397G>C (n.*1397G>C) c.874G>C (p.Gly292Arg) c.463G>C (p.Gly155Arg) c.403G>C (p.Gly135Arg) c.1087G>C (p.Gly363Arg) c.1057G>C (p.Gly353Arg) c.931G>C (p.Gly311Arg) c.*389G>C (n.*389G>C) | |
16 | g.27362706G>T | CA395298698 | IL4R | c.1354G>T (p.Gly452Trp) c.1309G>T (p.Gly437Trp) c.230-1397G>T (n.230-1397G>T) c.*1397G>T (n.*1397G>T) c.874G>T (p.Gly292Trp) c.463G>T (p.Gly155Trp) c.403G>T (p.Gly135Trp) c.1087G>T (p.Gly363Trp) c.1057G>T (p.Gly353Trp) c.931G>T (p.Gly311Trp) c.*389G>T (n.*389G>T) | |
16 | g.27362707G>A | CA395298703 | IL4R | c.1355G>A (p.Gly452Glu) c.1310G>A (p.Gly437Glu) c.230-1396G>A (n.230-1396G>A) c.*1398G>A (n.*1398G>A) c.875G>A (p.Gly292Glu) c.464G>A (p.Gly155Glu) c.404G>A (p.Gly135Glu) c.1088G>A (p.Gly363Glu) c.1058G>A (p.Gly353Glu) c.932G>A (p.Gly311Glu) c.*390G>A (n.*390G>A) | |
16 | g.27362707G>C | CA395298705 | IL4R | c.1355G>C (p.Gly452Ala) c.1310G>C (p.Gly437Ala) c.230-1396G>C (n.230-1396G>C) c.*1398G>C (n.*1398G>C) c.875G>C (p.Gly292Ala) c.464G>C (p.Gly155Ala) c.404G>C (p.Gly135Ala) c.1088G>C (p.Gly363Ala) c.1058G>C (p.Gly353Ala) c.932G>C (p.Gly311Ala) c.*390G>C (n.*390G>C) | |
16 | g.27362707G>T | CA395298708 | IL4R | c.1355G>T (p.Gly452Val) c.1310G>T (p.Gly437Val) c.230-1396G>T (n.230-1396G>T) c.*1398G>T (n.*1398G>T) c.875G>T (p.Gly292Val) c.464G>T (p.Gly155Val) c.404G>T (p.Gly135Val) c.1088G>T (p.Gly363Val) c.1058G>T (p.Gly353Val) c.932G>T (p.Gly311Val) c.*390G>T (n.*390G>T) | |
16 | g.27362708G>A | CA7974545 | IL4R | c.1356G>A (p.Gly452=) c.1311G>A (p.Gly437=) c.230-1395G>A (n.230-1395G>A) c.*1399G>A (n.*1399G>A) c.876G>A (p.Gly292=) c.465G>A (p.Gly155=) c.405G>A (p.Gly135=) c.1089G>A (p.Gly363=) c.1059G>A (p.Gly353=) c.933G>A (p.Gly311=) c.*391G>A (n.*391G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362708G>C | CA494470555 | IL4R | c.1356G>C (p.Gly452=) c.1311G>C (p.Gly437=) c.230-1395G>C (n.230-1395G>C) c.*1399G>C (n.*1399G>C) c.876G>C (p.Gly292=) c.465G>C (p.Gly155=) c.405G>C (p.Gly135=) c.1089G>C (p.Gly363=) c.1059G>C (p.Gly353=) c.933G>C (p.Gly311=) c.*391G>C (n.*391G>C) | |
16 | g.27362708G= | CA2215169654 | IL4R | c.1356G= (p.Gly452=) c.1311G= (p.Gly437=) c.230-1395G= (n.230-1395G=) c.*1399G= (n.*1399G=) c.876G= (p.Gly292=) c.465G= (p.Gly155=) c.405G= (p.Gly135=) c.1089G= (p.Gly363=) c.1059G= (p.Gly353=) c.933G= (p.Gly311=) c.*391G= (n.*391G=) | |
16 | g.27362708G>T | CA494470556 | IL4R | c.1356G>T (p.Gly452=) c.1311G>T (p.Gly437=) c.230-1395G>T (n.230-1395G>T) c.*1399G>T (n.*1399G>T) c.876G>T (p.Gly292=) c.465G>T (p.Gly155=) c.405G>T (p.Gly135=) c.1089G>T (p.Gly363=) c.1059G>T (p.Gly353=) c.933G>T (p.Gly311=) c.*391G>T (n.*391G>T) | |
16 | g.27362709C>A | CA279686712 | IL4R | c.1357C>A (p.Pro453Thr) c.1312C>A (p.Pro438Thr) c.230-1394C>A (n.230-1394C>A) c.*1400C>A (n.*1400C>A) c.877C>A (p.Pro293Thr) c.466C>A (p.Pro156Thr) c.406C>A (p.Pro136Thr) c.1090C>A (p.Pro364Thr) c.1060C>A (p.Pro354Thr) c.934C>A (p.Pro312Thr) c.*392C>A (n.*392C>A) | dbSNP |
16 | g.27362709C= | CA2215169660 | IL4R | c.1357C= (p.Pro453=) c.1312C= (p.Pro438=) c.230-1394C= (n.230-1394C=) c.*1400C= (n.*1400C=) c.877C= (p.Pro293=) c.466C= (p.Pro156=) c.406C= (p.Pro136=) c.1090C= (p.Pro364=) c.1060C= (p.Pro354=) c.934C= (p.Pro312=) c.*392C= (n.*392C=) | |
16 | g.27362709C>G | CA395298716 | IL4R | c.1357C>G (p.Pro453Ala) c.1312C>G (p.Pro438Ala) c.230-1394C>G (n.230-1394C>G) c.*1400C>G (n.*1400C>G) c.877C>G (p.Pro293Ala) c.466C>G (p.Pro156Ala) c.406C>G (p.Pro136Ala) c.1090C>G (p.Pro364Ala) c.1060C>G (p.Pro354Ala) c.934C>G (p.Pro312Ala) c.*392C>G (n.*392C>G) | |
16 | g.27362709C>T | CA395298714 | IL4R | c.1357C>T (p.Pro453Ser) c.1312C>T (p.Pro438Ser) c.230-1394C>T (n.230-1394C>T) c.*1400C>T (n.*1400C>T) c.877C>T (p.Pro293Ser) c.466C>T (p.Pro156Ser) c.406C>T (p.Pro136Ser) c.1090C>T (p.Pro364Ser) c.1060C>T (p.Pro354Ser) c.934C>T (p.Pro312Ser) c.*392C>T (n.*392C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362710C>A | CA395298720 | IL4R | c.1358C>A (p.Pro453His) c.1313C>A (p.Pro438His) c.230-1393C>A (n.230-1393C>A) c.*1401C>A (n.*1401C>A) c.878C>A (p.Pro293His) c.467C>A (p.Pro156His) c.407C>A (p.Pro136His) c.1091C>A (p.Pro364His) c.1061C>A (p.Pro354His) c.935C>A (p.Pro312His) c.*393C>A (n.*393C>A) | |
16 | g.27362710C>G | CA395298722 | IL4R | c.1358C>G (p.Pro453Arg) c.1313C>G (p.Pro438Arg) c.230-1393C>G (n.230-1393C>G) c.*1401C>G (n.*1401C>G) c.878C>G (p.Pro293Arg) c.467C>G (p.Pro156Arg) c.407C>G (p.Pro136Arg) c.1091C>G (p.Pro364Arg) c.1061C>G (p.Pro354Arg) c.935C>G (p.Pro312Arg) c.*393C>G (n.*393C>G) | |
16 | g.27362710C>T | CA395298724 | IL4R | c.1358C>T (p.Pro453Leu) c.1313C>T (p.Pro438Leu) c.230-1393C>T (n.230-1393C>T) c.*1401C>T (n.*1401C>T) c.878C>T (p.Pro293Leu) c.467C>T (p.Pro156Leu) c.407C>T (p.Pro136Leu) c.1091C>T (p.Pro364Leu) c.1061C>T (p.Pro354Leu) c.935C>T (p.Pro312Leu) c.*393C>T (n.*393C>T) | dbSNP gnomAD v4 |
16 | g.27362711C>A | CA494470557 | IL4R | c.1359C>A (p.Pro453=) c.1314C>A (p.Pro438=) c.230-1392C>A (n.230-1392C>A) c.*1402C>A (n.*1402C>A) c.879C>A (p.Pro293=) c.468C>A (p.Pro156=) c.408C>A (p.Pro136=) c.1092C>A (p.Pro364=) c.1062C>A (p.Pro354=) c.936C>A (p.Pro312=) c.*394C>A (n.*394C>A) | |
16 | g.27362711C= | CA2215169662 | IL4R | c.1359C= (p.Pro453=) c.1314C= (p.Pro438=) c.230-1392C= (n.230-1392C=) c.*1402C= (n.*1402C=) c.879C= (p.Pro293=) c.468C= (p.Pro156=) c.408C= (p.Pro136=) c.1092C= (p.Pro364=) c.1062C= (p.Pro354=) c.936C= (p.Pro312=) c.*394C= (n.*394C=) | |
16 | g.27362711C>G | CA494470558 | IL4R | c.1359C>G (p.Pro453=) c.1314C>G (p.Pro438=) c.230-1392C>G (n.230-1392C>G) c.*1402C>G (n.*1402C>G) c.879C>G (p.Pro293=) c.468C>G (p.Pro156=) c.408C>G (p.Pro136=) c.1092C>G (p.Pro364=) c.1062C>G (p.Pro354=) c.936C>G (p.Pro312=) c.*394C>G (n.*394C>G) | |
16 | g.27362711C>T | CA494470559 | IL4R | c.1359C>T (p.Pro453=) c.1314C>T (p.Pro438=) c.230-1392C>T (n.230-1392C>T) c.*1402C>T (n.*1402C>T) c.879C>T (p.Pro293=) c.468C>T (p.Pro156=) c.408C>T (p.Pro136=) c.1092C>T (p.Pro364=) c.1062C>T (p.Pro354=) c.936C>T (p.Pro312=) c.*394C>T (n.*394C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362711_27362712delinsCA | CA2215169661 | IL4R | c.1359_1360delinsCA (p.Pro453=) c.1314_1315delinsCA (p.Pro438=) c.230-1392_230-1391delinsCA (n.230-1392_230-1391delinsCA) c.*1402_*1403delinsCA (n.*1402_*1403delinsCA) c.879_880delinsCA (p.Pro293=) c.468_469delinsCA (p.Pro156=) c.408_409delinsCA (p.Pro136=) c.1092_1093delinsCA (p.Pro364=) c.1062_1063delinsCA (p.Pro354=) c.936_937delinsCA (p.Pro312=) c.*394_*395delinsCA (n.*394_*395delinsCA) | |
16 | g.27362712A= | CA2215169668 | IL4R | c.1360A= (p.Lys454=) c.1315A= (p.Lys439=) c.230-1391A= (n.230-1391A=) c.*1403A= (n.*1403A=) c.880A= (p.Lys294=) c.469A= (p.Lys157=) c.409A= (p.Lys137=) c.1093A= (p.Lys365=) c.1063A= (p.Lys355=) c.937A= (p.Lys313=) c.*395A= (n.*395A=) | |
16 | g.27362712A>C | CA395298727 | IL4R | c.1360A>C (p.Lys454Gln) c.1315A>C (p.Lys439Gln) c.230-1391A>C (n.230-1391A>C) c.*1403A>C (n.*1403A>C) c.880A>C (p.Lys294Gln) c.469A>C (p.Lys157Gln) c.409A>C (p.Lys137Gln) c.1093A>C (p.Lys365Gln) c.1063A>C (p.Lys355Gln) c.937A>C (p.Lys313Gln) c.*395A>C (n.*395A>C) | |
16 | g.27362712A>G | CA279686734 | IL4R | c.1360A>G (p.Lys454Glu) c.1315A>G (p.Lys439Glu) c.230-1391A>G (n.230-1391A>G) c.*1403A>G (n.*1403A>G) c.880A>G (p.Lys294Glu) c.469A>G (p.Lys157Glu) c.409A>G (p.Lys137Glu) c.1093A>G (p.Lys365Glu) c.1063A>G (p.Lys355Glu) c.937A>G (p.Lys313Glu) c.*395A>G (n.*395A>G) | dbSNP gnomAD v4 |
16 | g.27362712A>T | CA395298728 | IL4R | c.1360A>T (p.Lys454Ter) c.1315A>T (p.Lys439Ter) c.230-1391A>T (n.230-1391A>T) c.*1403A>T (n.*1403A>T) c.880A>T (p.Lys294Ter) c.469A>T (p.Lys157Ter) c.409A>T (p.Lys137Ter) c.1093A>T (p.Lys365Ter) c.1063A>T (p.Lys355Ter) c.937A>T (p.Lys313Ter) c.*395A>T (n.*395A>T) | |
16 | g.27362713del | CA2215169667 | IL4R | c.1361del (p.Lys454ArgfsTer29) c.1316del (p.Lys439ArgfsTer29) c.230-1390del (n.230-1390del) c.*1404del (n.*1404del) c.881del (p.Lys294ArgfsTer29) c.470del (p.Lys157ArgfsTer29) c.410del (p.Lys137ArgfsTer29) c.1094del (p.Lys365ArgfsTer29) c.1064del (p.Lys355ArgfsTer29) c.938del (p.Lys313ArgfsTer29) c.*396del (n.*396del) | dbSNP |
16 | g.27362713A>C | CA395298729 | IL4R | c.1361A>C (p.Lys454Thr) c.1316A>C (p.Lys439Thr) c.230-1390A>C (n.230-1390A>C) c.*1404A>C (n.*1404A>C) c.881A>C (p.Lys294Thr) c.470A>C (p.Lys157Thr) c.410A>C (p.Lys137Thr) c.1094A>C (p.Lys365Thr) c.1064A>C (p.Lys355Thr) c.938A>C (p.Lys313Thr) c.*396A>C (n.*396A>C) | |
16 | g.27362713A>G | CA395298730 | IL4R | c.1361A>G (p.Lys454Arg) c.1316A>G (p.Lys439Arg) c.230-1390A>G (n.230-1390A>G) c.*1404A>G (n.*1404A>G) c.881A>G (p.Lys294Arg) c.470A>G (p.Lys157Arg) c.410A>G (p.Lys137Arg) c.1094A>G (p.Lys365Arg) c.1064A>G (p.Lys355Arg) c.938A>G (p.Lys313Arg) c.*396A>G (n.*396A>G) | |
16 | g.27362713A>T | CA395298731 | IL4R | c.1361A>T (p.Lys454Met) c.1316A>T (p.Lys439Met) c.230-1390A>T (n.230-1390A>T) c.*1404A>T (n.*1404A>T) c.881A>T (p.Lys294Met) c.470A>T (p.Lys157Met) c.410A>T (p.Lys137Met) c.1094A>T (p.Lys365Met) c.1064A>T (p.Lys355Met) c.938A>T (p.Lys313Met) c.*396A>T (n.*396A>T) | COSMIC COSMIC |
16 | g.27362714G>A | CA494470560 | IL4R | c.1362G>A (p.Lys454=) c.1317G>A (p.Lys439=) c.230-1389G>A (n.230-1389G>A) c.*1405G>A (n.*1405G>A) c.882G>A (p.Lys294=) c.471G>A (p.Lys157=) c.411G>A (p.Lys137=) c.1095G>A (p.Lys365=) c.1065G>A (p.Lys355=) c.939G>A (p.Lys313=) c.*397G>A (n.*397G>A) | gnomAD v4 |
16 | g.27362714G>C | CA395298732 | IL4R | c.1362G>C (p.Lys454Asn) c.1317G>C (p.Lys439Asn) c.230-1389G>C (n.230-1389G>C) c.*1405G>C (n.*1405G>C) c.882G>C (p.Lys294Asn) c.471G>C (p.Lys157Asn) c.411G>C (p.Lys137Asn) c.1095G>C (p.Lys365Asn) c.1065G>C (p.Lys355Asn) c.939G>C (p.Lys313Asn) c.*397G>C (n.*397G>C) | gnomAD v4 |
16 | g.27362714G>T | CA395298733 | IL4R | c.1362G>T (p.Lys454Asn) c.1317G>T (p.Lys439Asn) c.230-1389G>T (n.230-1389G>T) c.*1405G>T (n.*1405G>T) c.882G>T (p.Lys294Asn) c.471G>T (p.Lys157Asn) c.411G>T (p.Lys137Asn) c.1095G>T (p.Lys365Asn) c.1065G>T (p.Lys355Asn) c.939G>T (p.Lys313Asn) c.*397G>T (n.*397G>T) | |
16 | g.27362715G>A | CA395298734 | IL4R | c.1363G>A (p.Glu455Lys) c.1318G>A (p.Glu440Lys) c.230-1388G>A (n.230-1388G>A) c.*1406G>A (n.*1406G>A) c.883G>A (p.Glu295Lys) c.472G>A (p.Glu158Lys) c.412G>A (p.Glu138Lys) c.1096G>A (p.Glu366Lys) c.1066G>A (p.Glu356Lys) c.940G>A (p.Glu314Lys) c.*398G>A (n.*398G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362715G>C | CA395298736 | IL4R | c.1363G>C (p.Glu455Gln) c.1318G>C (p.Glu440Gln) c.230-1388G>C (n.230-1388G>C) c.*1406G>C (n.*1406G>C) c.883G>C (p.Glu295Gln) c.472G>C (p.Glu158Gln) c.412G>C (p.Glu138Gln) c.1096G>C (p.Glu366Gln) c.1066G>C (p.Glu356Gln) c.940G>C (p.Glu314Gln) c.*398G>C (n.*398G>C) | |
16 | g.27362715G= | CA2215169674 | IL4R | c.1363G= (p.Glu455=) c.1318G= (p.Glu440=) c.230-1388G= (n.230-1388G=) c.*1406G= (n.*1406G=) c.883G= (p.Glu295=) c.472G= (p.Glu158=) c.412G= (p.Glu138=) c.1096G= (p.Glu366=) c.1066G= (p.Glu356=) c.940G= (p.Glu314=) c.*398G= (n.*398G=) | |
16 | g.27362715G>T | CA395298735 | IL4R | c.1363G>T (p.Glu455Ter) c.1318G>T (p.Glu440Ter) c.230-1388G>T (n.230-1388G>T) c.*1406G>T (n.*1406G>T) c.883G>T (p.Glu295Ter) c.472G>T (p.Glu158Ter) c.412G>T (p.Glu138Ter) c.1096G>T (p.Glu366Ter) c.1066G>T (p.Glu356Ter) c.940G>T (p.Glu314Ter) c.*398G>T (n.*398G>T) | |
16 | g.27362716A>C | CA395298737 | IL4R | c.1364A>C (p.Glu455Ala) c.1319A>C (p.Glu440Ala) c.230-1387A>C (n.230-1387A>C) c.*1407A>C (n.*1407A>C) c.884A>C (p.Glu295Ala) c.473A>C (p.Glu158Ala) c.413A>C (p.Glu138Ala) c.1097A>C (p.Glu366Ala) c.1067A>C (p.Glu356Ala) c.941A>C (p.Glu314Ala) c.*399A>C (n.*399A>C) | |
16 | g.27362716A>G | CA395298739 | IL4R | c.1364A>G (p.Glu455Gly) c.1319A>G (p.Glu440Gly) c.230-1387A>G (n.230-1387A>G) c.*1407A>G (n.*1407A>G) c.884A>G (p.Glu295Gly) c.473A>G (p.Glu158Gly) c.413A>G (p.Glu138Gly) c.1097A>G (p.Glu366Gly) c.1067A>G (p.Glu356Gly) c.941A>G (p.Glu314Gly) c.*399A>G (n.*399A>G) | |
16 | g.27362716A>T | CA395298738 | IL4R | c.1364A>T (p.Glu455Val) c.1319A>T (p.Glu440Val) c.230-1387A>T (n.230-1387A>T) c.*1407A>T (n.*1407A>T) c.884A>T (p.Glu295Val) c.473A>T (p.Glu158Val) c.413A>T (p.Glu138Val) c.1097A>T (p.Glu366Val) c.1067A>T (p.Glu356Val) c.941A>T (p.Glu314Val) c.*399A>T (n.*399A>T) | gnomAD v4 |
16 | g.27362717G>A | CA7974546 | IL4R | c.1365G>A (p.Glu455=) c.1320G>A (p.Glu440=) c.230-1386G>A (n.230-1386G>A) c.*1408G>A (n.*1408G>A) c.885G>A (p.Glu295=) c.474G>A (p.Glu158=) c.414G>A (p.Glu138=) c.1098G>A (p.Glu366=) c.1068G>A (p.Glu356=) c.942G>A (p.Glu314=) c.*400G>A (n.*400G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362717G>C | CA395298740 | IL4R | c.1365G>C (p.Glu455Asp) c.1320G>C (p.Glu440Asp) c.230-1386G>C (n.230-1386G>C) c.*1408G>C (n.*1408G>C) c.885G>C (p.Glu295Asp) c.474G>C (p.Glu158Asp) c.414G>C (p.Glu138Asp) c.1098G>C (p.Glu366Asp) c.1068G>C (p.Glu356Asp) c.942G>C (p.Glu314Asp) c.*400G>C (n.*400G>C) | |
16 | g.27362717G= | CA2215169677 | IL4R | c.1365G= (p.Glu455=) c.1320G= (p.Glu440=) c.230-1386G= (n.230-1386G=) c.*1408G= (n.*1408G=) c.885G= (p.Glu295=) c.474G= (p.Glu158=) c.414G= (p.Glu138=) c.1098G= (p.Glu366=) c.1068G= (p.Glu356=) c.942G= (p.Glu314=) c.*400G= (n.*400G=) | |
16 | g.27362717G>T | CA395298741 | IL4R | c.1365G>T (p.Glu455Asp) c.1320G>T (p.Glu440Asp) c.230-1386G>T (n.230-1386G>T) c.*1408G>T (n.*1408G>T) c.885G>T (p.Glu295Asp) c.474G>T (p.Glu158Asp) c.414G>T (p.Glu138Asp) c.1098G>T (p.Glu366Asp) c.1068G>T (p.Glu356Asp) c.942G>T (p.Glu314Asp) c.*400G>T (n.*400G>T) | |
16 | g.27362718G>A | CA395298742 | IL4R | c.1366G>A (p.Ala456Thr) c.1321G>A (p.Ala441Thr) c.230-1385G>A (n.230-1385G>A) c.*1409G>A (n.*1409G>A) c.886G>A (p.Ala296Thr) c.475G>A (p.Ala159Thr) c.415G>A (p.Ala139Thr) c.1099G>A (p.Ala367Thr) c.1069G>A (p.Ala357Thr) c.943G>A (p.Ala315Thr) c.*401G>A (n.*401G>A) | |
16 | g.27362718G>C | CA395298743 | IL4R | c.1366G>C (p.Ala456Pro) c.1321G>C (p.Ala441Pro) c.230-1385G>C (n.230-1385G>C) c.*1409G>C (n.*1409G>C) c.886G>C (p.Ala296Pro) c.475G>C (p.Ala159Pro) c.415G>C (p.Ala139Pro) c.1099G>C (p.Ala367Pro) c.1069G>C (p.Ala357Pro) c.943G>C (p.Ala315Pro) c.*401G>C (n.*401G>C) | |
16 | g.27362718G>T | CA395298744 | IL4R | c.1366G>T (p.Ala456Ser) c.1321G>T (p.Ala441Ser) c.230-1385G>T (n.230-1385G>T) c.*1409G>T (n.*1409G>T) c.886G>T (p.Ala296Ser) c.475G>T (p.Ala159Ser) c.415G>T (p.Ala139Ser) c.1099G>T (p.Ala367Ser) c.1069G>T (p.Ala357Ser) c.943G>T (p.Ala315Ser) c.*401G>T (n.*401G>T) | |
16 | g.27362719C>A | CA395298745 | IL4R | c.1367C>A (p.Ala456Glu) c.1322C>A (p.Ala441Glu) c.230-1384C>A (n.230-1384C>A) c.*1410C>A (n.*1410C>A) c.887C>A (p.Ala296Glu) c.476C>A (p.Ala159Glu) c.416C>A (p.Ala139Glu) c.1100C>A (p.Ala367Glu) c.1070C>A (p.Ala357Glu) c.944C>A (p.Ala315Glu) c.*402C>A (n.*402C>A) | |
16 | g.27362719C>G | CA395298746 | IL4R | c.1367C>G (p.Ala456Gly) c.1322C>G (p.Ala441Gly) c.230-1384C>G (n.230-1384C>G) c.*1410C>G (n.*1410C>G) c.887C>G (p.Ala296Gly) c.476C>G (p.Ala159Gly) c.416C>G (p.Ala139Gly) c.1100C>G (p.Ala367Gly) c.1070C>G (p.Ala357Gly) c.944C>G (p.Ala315Gly) c.*402C>G (n.*402C>G) | |
16 | g.27362719C>T | CA395298747 | IL4R | c.1367C>T (p.Ala456Val) c.1322C>T (p.Ala441Val) c.230-1384C>T (n.230-1384C>T) c.*1410C>T (n.*1410C>T) c.887C>T (p.Ala296Val) c.476C>T (p.Ala159Val) c.416C>T (p.Ala139Val) c.1100C>T (p.Ala367Val) c.1070C>T (p.Ala357Val) c.944C>T (p.Ala315Val) c.*402C>T (n.*402C>T) | gnomAD v4 |
16 | g.27362720A= | CA2215169679 | IL4R | c.1368A= (p.Ala456=) c.1323A= (p.Ala441=) c.230-1383A= (n.230-1383A=) c.*1411A= (n.*1411A=) c.888A= (p.Ala296=) c.477A= (p.Ala159=) c.417A= (p.Ala139=) c.1101A= (p.Ala367=) c.1071A= (p.Ala357=) c.945A= (p.Ala315=) c.*403A= (n.*403A=) | |
16 | g.27362720A>C | CA494470563 | IL4R | c.1368A>C (p.Ala456=) c.1323A>C (p.Ala441=) c.230-1383A>C (n.230-1383A>C) c.*1411A>C (n.*1411A>C) c.888A>C (p.Ala296=) c.477A>C (p.Ala159=) c.417A>C (p.Ala139=) c.1101A>C (p.Ala367=) c.1071A>C (p.Ala357=) c.945A>C (p.Ala315=) c.*403A>C (n.*403A>C) | dbSNP |
16 | g.27362720A>G | CA494470564 | IL4R | c.1368A>G (p.Ala456=) c.1323A>G (p.Ala441=) c.230-1383A>G (n.230-1383A>G) c.*1411A>G (n.*1411A>G) c.888A>G (p.Ala296=) c.477A>G (p.Ala159=) c.417A>G (p.Ala139=) c.1101A>G (p.Ala367=) c.1071A>G (p.Ala357=) c.945A>G (p.Ala315=) c.*403A>G (n.*403A>G) | |
16 | g.27362720A>T | CA494470565 | IL4R | c.1368A>T (p.Ala456=) c.1323A>T (p.Ala441=) c.230-1383A>T (n.230-1383A>T) c.*1411A>T (n.*1411A>T) c.888A>T (p.Ala296=) c.477A>T (p.Ala159=) c.417A>T (p.Ala139=) c.1101A>T (p.Ala367=) c.1071A>T (p.Ala357=) c.945A>T (p.Ala315=) c.*403A>T (n.*403A>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362721C>A | CA395298748 | IL4R | c.1369C>A (p.Pro457Thr) c.1324C>A (p.Pro442Thr) c.230-1382C>A (n.230-1382C>A) c.*1412C>A (n.*1412C>A) c.889C>A (p.Pro297Thr) c.478C>A (p.Pro160Thr) c.418C>A (p.Pro140Thr) c.1102C>A (p.Pro368Thr) c.1072C>A (p.Pro358Thr) c.946C>A (p.Pro316Thr) c.*404C>A (n.*404C>A) | |
16 | g.27362721C>G | CA395298749 | IL4R | c.1369C>G (p.Pro457Ala) c.1324C>G (p.Pro442Ala) c.230-1382C>G (n.230-1382C>G) c.*1412C>G (n.*1412C>G) c.889C>G (p.Pro297Ala) c.478C>G (p.Pro160Ala) c.418C>G (p.Pro140Ala) c.1102C>G (p.Pro368Ala) c.1072C>G (p.Pro358Ala) c.946C>G (p.Pro316Ala) c.*404C>G (n.*404C>G) | |
16 | g.27362721C>T | CA395298750 | IL4R | c.1369C>T (p.Pro457Ser) c.1324C>T (p.Pro442Ser) c.230-1382C>T (n.230-1382C>T) c.*1412C>T (n.*1412C>T) c.889C>T (p.Pro297Ser) c.478C>T (p.Pro160Ser) c.418C>T (p.Pro140Ser) c.1102C>T (p.Pro368Ser) c.1072C>T (p.Pro358Ser) c.946C>T (p.Pro316Ser) c.*404C>T (n.*404C>T) | gnomAD v4 |
16 | g.27362722C>A | CA395298751 | IL4R | c.1370C>A (p.Pro457His) c.1325C>A (p.Pro442His) c.230-1381C>A (n.230-1381C>A) c.*1413C>A (n.*1413C>A) c.890C>A (p.Pro297His) c.479C>A (p.Pro160His) c.419C>A (p.Pro140His) c.1103C>A (p.Pro368His) c.1073C>A (p.Pro358His) c.947C>A (p.Pro316His) c.*405C>A (n.*405C>A) | |
16 | g.27362722C>G | CA395298753 | IL4R | c.1370C>G (p.Pro457Arg) c.1325C>G (p.Pro442Arg) c.230-1381C>G (n.230-1381C>G) c.*1413C>G (n.*1413C>G) c.890C>G (p.Pro297Arg) c.479C>G (p.Pro160Arg) c.419C>G (p.Pro140Arg) c.1103C>G (p.Pro368Arg) c.1073C>G (p.Pro358Arg) c.947C>G (p.Pro316Arg) c.*405C>G (n.*405C>G) | |
16 | g.27362722C>T | CA395298752 | IL4R | c.1370C>T (p.Pro457Leu) c.1325C>T (p.Pro442Leu) c.230-1381C>T (n.230-1381C>T) c.*1413C>T (n.*1413C>T) c.890C>T (p.Pro297Leu) c.479C>T (p.Pro160Leu) c.419C>T (p.Pro140Leu) c.1103C>T (p.Pro368Leu) c.1073C>T (p.Pro358Leu) c.947C>T (p.Pro316Leu) c.*405C>T (n.*405C>T) | gnomAD v4 |
16 | g.27362723T>A | CA494470566 | IL4R | c.1371T>A (p.Pro457=) c.1326T>A (p.Pro442=) c.230-1380T>A (n.230-1380T>A) c.*1414T>A (n.*1414T>A) c.891T>A (p.Pro297=) c.480T>A (p.Pro160=) c.420T>A (p.Pro140=) c.1104T>A (p.Pro368=) c.1074T>A (p.Pro358=) c.948T>A (p.Pro316=) c.*406T>A (n.*406T>A) | |
16 | g.27362723T>C | CA494470567 | IL4R | c.1371T>C (p.Pro457=) c.1326T>C (p.Pro442=) c.230-1380T>C (n.230-1380T>C) c.*1414T>C (n.*1414T>C) c.891T>C (p.Pro297=) c.480T>C (p.Pro160=) c.420T>C (p.Pro140=) c.1104T>C (p.Pro368=) c.1074T>C (p.Pro358=) c.948T>C (p.Pro316=) c.*406T>C (n.*406T>C) | |
16 | g.27362723T>G | CA494470568 | IL4R | c.1371T>G (p.Pro457=) c.1326T>G (p.Pro442=) c.230-1380T>G (n.230-1380T>G) c.*1414T>G (n.*1414T>G) c.891T>G (p.Pro297=) c.480T>G (p.Pro160=) c.420T>G (p.Pro140=) c.1104T>G (p.Pro368=) c.1074T>G (p.Pro358=) c.948T>G (p.Pro316=) c.*406T>G (n.*406T>G) | |
16 | g.27362724C>A | CA395298754 | IL4R | c.1372C>A (p.Pro458Thr) c.1327C>A (p.Pro443Thr) c.230-1379C>A (n.230-1379C>A) c.*1415C>A (n.*1415C>A) c.892C>A (p.Pro298Thr) c.481C>A (p.Pro161Thr) c.421C>A (p.Pro141Thr) c.1105C>A (p.Pro369Thr) c.1075C>A (p.Pro359Thr) c.949C>A (p.Pro317Thr) c.*407C>A (n.*407C>A) | |
16 | g.27362724C>G | CA395298755 | IL4R | c.1372C>G (p.Pro458Ala) c.1327C>G (p.Pro443Ala) c.230-1379C>G (n.230-1379C>G) c.*1415C>G (n.*1415C>G) c.892C>G (p.Pro298Ala) c.481C>G (p.Pro161Ala) c.421C>G (p.Pro141Ala) c.1105C>G (p.Pro369Ala) c.1075C>G (p.Pro359Ala) c.949C>G (p.Pro317Ala) c.*407C>G (n.*407C>G) | |
16 | g.27362724C>T | CA395298756 | IL4R | c.1372C>T (p.Pro458Ser) c.1327C>T (p.Pro443Ser) c.230-1379C>T (n.230-1379C>T) c.*1415C>T (n.*1415C>T) c.892C>T (p.Pro298Ser) c.481C>T (p.Pro161Ser) c.421C>T (p.Pro141Ser) c.1105C>T (p.Pro369Ser) c.1075C>T (p.Pro359Ser) c.949C>T (p.Pro317Ser) c.*407C>T (n.*407C>T) | |
16 | g.27362725C>A | CA395298757 | IL4R | c.1373C>A (p.Pro458His) c.1328C>A (p.Pro443His) c.230-1378C>A (n.230-1378C>A) c.*1416C>A (n.*1416C>A) c.893C>A (p.Pro298His) c.482C>A (p.Pro161His) c.422C>A (p.Pro141His) c.1106C>A (p.Pro369His) c.1076C>A (p.Pro359His) c.950C>A (p.Pro317His) c.*408C>A (n.*408C>A) | |
16 | g.27362725C= | CA2215169682 | IL4R | c.1373C= (p.Pro458=) c.1328C= (p.Pro443=) c.230-1378C= (n.230-1378C=) c.*1416C= (n.*1416C=) c.893C= (p.Pro298=) c.482C= (p.Pro161=) c.422C= (p.Pro141=) c.1106C= (p.Pro369=) c.1076C= (p.Pro359=) c.950C= (p.Pro317=) c.*408C= (n.*408C=) | |
16 | g.27362725C>G | CA395298758 | IL4R | c.1373C>G (p.Pro458Arg) c.1328C>G (p.Pro443Arg) c.230-1378C>G (n.230-1378C>G) c.*1416C>G (n.*1416C>G) c.893C>G (p.Pro298Arg) c.482C>G (p.Pro161Arg) c.422C>G (p.Pro141Arg) c.1106C>G (p.Pro369Arg) c.1076C>G (p.Pro359Arg) c.950C>G (p.Pro317Arg) c.*408C>G (n.*408C>G) | |
16 | g.27362725C>T | CA7974547 | IL4R | c.1373C>T (p.Pro458Leu) c.1328C>T (p.Pro443Leu) c.230-1378C>T (n.230-1378C>T) c.*1416C>T (n.*1416C>T) c.893C>T (p.Pro298Leu) c.482C>T (p.Pro161Leu) c.422C>T (p.Pro141Leu) c.1106C>T (p.Pro369Leu) c.1076C>T (p.Pro359Leu) c.950C>T (p.Pro317Leu) c.*408C>T (n.*408C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362726C>A | CA494470570 | IL4R | c.1374C>A (p.Pro458=) c.1329C>A (p.Pro443=) c.230-1377C>A (n.230-1377C>A) c.*1417C>A (n.*1417C>A) c.894C>A (p.Pro298=) c.483C>A (p.Pro161=) c.423C>A (p.Pro141=) c.1107C>A (p.Pro369=) c.1077C>A (p.Pro359=) c.951C>A (p.Pro317=) c.*409C>A (n.*409C>A) | |
16 | g.27362726C= | CA2215169684 | IL4R | c.1374C= (p.Pro458=) c.1329C= (p.Pro443=) c.230-1377C= (n.230-1377C=) c.*1417C= (n.*1417C=) c.894C= (p.Pro298=) c.483C= (p.Pro161=) c.423C= (p.Pro141=) c.1107C= (p.Pro369=) c.1077C= (p.Pro359=) c.951C= (p.Pro317=) c.*409C= (n.*409C=) | |
16 | g.27362726C>G | CA494470571 | IL4R | c.1374C>G (p.Pro458=) c.1329C>G (p.Pro443=) c.230-1377C>G (n.230-1377C>G) c.*1417C>G (n.*1417C>G) c.894C>G (p.Pro298=) c.483C>G (p.Pro161=) c.423C>G (p.Pro141=) c.1107C>G (p.Pro369=) c.1077C>G (p.Pro359=) c.951C>G (p.Pro317=) c.*409C>G (n.*409C>G) | |
16 | g.27362726C>T | CA7974548 | IL4R | c.1374C>T (p.Pro458=) c.1329C>T (p.Pro443=) c.230-1377C>T (n.230-1377C>T) c.*1417C>T (n.*1417C>T) c.894C>T (p.Pro298=) c.483C>T (p.Pro161=) c.423C>T (p.Pro141=) c.1107C>T (p.Pro369=) c.1077C>T (p.Pro359=) c.951C>T (p.Pro317=) c.*409C>T (n.*409C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.27362727T>A | CA395298759 | IL4R | c.1375T>A (p.Trp459Arg) c.1330T>A (p.Trp444Arg) c.230-1376T>A (n.230-1376T>A) c.*1418T>A (n.*1418T>A) c.895T>A (p.Trp299Arg) c.484T>A (p.Trp162Arg) c.424T>A (p.Trp142Arg) c.1108T>A (p.Trp370Arg) c.1078T>A (p.Trp360Arg) c.952T>A (p.Trp318Arg) c.*410T>A (n.*410T>A) | |
16 | g.27362727T>C | CA7974549 | IL4R | c.1375T>C (p.Trp459Arg) c.1330T>C (p.Trp444Arg) c.230-1376T>C (n.230-1376T>C) c.*1418T>C (n.*1418T>C) c.895T>C (p.Trp299Arg) c.484T>C (p.Trp162Arg) c.424T>C (p.Trp142Arg) c.1108T>C (p.Trp370Arg) c.1078T>C (p.Trp360Arg) c.952T>C (p.Trp318Arg) c.*410T>C (n.*410T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362727T>G | CA395298760 | IL4R | c.1375T>G (p.Trp459Gly) c.1330T>G (p.Trp444Gly) c.230-1376T>G (n.230-1376T>G) c.*1418T>G (n.*1418T>G) c.895T>G (p.Trp299Gly) c.484T>G (p.Trp162Gly) c.424T>G (p.Trp142Gly) c.1108T>G (p.Trp370Gly) c.1078T>G (p.Trp360Gly) c.952T>G (p.Trp318Gly) c.*410T>G (n.*410T>G) | |
16 | g.27362727T= | CA2215169686 | IL4R | c.1375T= (p.Trp459=) c.1330T= (p.Trp444=) c.230-1376T= (n.230-1376T=) c.*1418T= (n.*1418T=) c.895T= (p.Trp299=) c.484T= (p.Trp162=) c.424T= (p.Trp142=) c.1108T= (p.Trp370=) c.1078T= (p.Trp360=) c.952T= (p.Trp318=) c.*410T= (n.*410T=) | |
16 | g.27362728G>A | CA395298762 | IL4R | c.1376G>A (p.Trp459Ter) c.1331G>A (p.Trp444Ter) c.230-1375G>A (n.230-1375G>A) c.*1419G>A (n.*1419G>A) c.896G>A (p.Trp299Ter) c.485G>A (p.Trp162Ter) c.425G>A (p.Trp142Ter) c.1109G>A (p.Trp370Ter) c.1079G>A (p.Trp360Ter) c.953G>A (p.Trp318Ter) c.*411G>A (n.*411G>A) | |
16 | g.27362728G>C | CA395298763 | IL4R | c.1376G>C (p.Trp459Ser) c.1331G>C (p.Trp444Ser) c.230-1375G>C (n.230-1375G>C) c.*1419G>C (n.*1419G>C) c.896G>C (p.Trp299Ser) c.485G>C (p.Trp162Ser) c.425G>C (p.Trp142Ser) c.1109G>C (p.Trp370Ser) c.1079G>C (p.Trp360Ser) c.953G>C (p.Trp318Ser) c.*411G>C (n.*411G>C) | |
16 | g.27362728G>T | CA395298761 | IL4R | c.1376G>T (p.Trp459Leu) c.1331G>T (p.Trp444Leu) c.230-1375G>T (n.230-1375G>T) c.*1419G>T (n.*1419G>T) c.896G>T (p.Trp299Leu) c.485G>T (p.Trp162Leu) c.425G>T (p.Trp142Leu) c.1109G>T (p.Trp370Leu) c.1079G>T (p.Trp360Leu) c.953G>T (p.Trp318Leu) c.*411G>T (n.*411G>T) | |
16 | g.27362729G>A | CA395298764 | IL4R | c.1377G>A (p.Trp459Ter) c.1332G>A (p.Trp444Ter) c.230-1374G>A (n.230-1374G>A) c.*1420G>A (n.*1420G>A) c.897G>A (p.Trp299Ter) c.486G>A (p.Trp162Ter) c.426G>A (p.Trp142Ter) c.1110G>A (p.Trp370Ter) c.1080G>A (p.Trp360Ter) c.954G>A (p.Trp318Ter) c.*412G>A (n.*412G>A) | gnomAD v4 |
16 | g.27362729G>C | CA395298765 | IL4R | c.1377G>C (p.Trp459Cys) c.1332G>C (p.Trp444Cys) c.230-1374G>C (n.230-1374G>C) c.*1420G>C (n.*1420G>C) c.897G>C (p.Trp299Cys) c.486G>C (p.Trp162Cys) c.426G>C (p.Trp142Cys) c.1110G>C (p.Trp370Cys) c.1080G>C (p.Trp360Cys) c.954G>C (p.Trp318Cys) c.*412G>C (n.*412G>C) | |
16 | g.27362729G>T | CA395298766 | IL4R | c.1377G>T (p.Trp459Cys) c.1332G>T (p.Trp444Cys) c.230-1374G>T (n.230-1374G>T) c.*1420G>T (n.*1420G>T) c.897G>T (p.Trp299Cys) c.486G>T (p.Trp162Cys) c.426G>T (p.Trp142Cys) c.1110G>T (p.Trp370Cys) c.1080G>T (p.Trp360Cys) c.954G>T (p.Trp318Cys) c.*412G>T (n.*412G>T) | |
16 | g.27362730G>A | CA395298767 | IL4R | c.1378G>A (p.Gly460Ser) c.1333G>A (p.Gly445Ser) c.230-1373G>A (n.230-1373G>A) c.*1421G>A (n.*1421G>A) c.898G>A (p.Gly300Ser) c.487G>A (p.Gly163Ser) c.427G>A (p.Gly143Ser) c.1111G>A (p.Gly371Ser) c.1081G>A (p.Gly361Ser) c.955G>A (p.Gly319Ser) c.*413G>A (n.*413G>A) | |
16 | g.27362730G>C | CA395298768 | IL4R | c.1378G>C (p.Gly460Arg) c.1333G>C (p.Gly445Arg) c.230-1373G>C (n.230-1373G>C) c.*1421G>C (n.*1421G>C) c.898G>C (p.Gly300Arg) c.487G>C (p.Gly163Arg) c.427G>C (p.Gly143Arg) c.1111G>C (p.Gly371Arg) c.1081G>C (p.Gly361Arg) c.955G>C (p.Gly319Arg) c.*413G>C (n.*413G>C) | |
16 | g.27362730G= | CA2215169688 | IL4R | c.1378G= (p.Gly460=) c.1333G= (p.Gly445=) c.230-1373G= (n.230-1373G=) c.*1421G= (n.*1421G=) c.898G= (p.Gly300=) c.487G= (p.Gly163=) c.427G= (p.Gly143=) c.1111G= (p.Gly371=) c.1081G= (p.Gly361=) c.955G= (p.Gly319=) c.*413G= (n.*413G=) | |
16 | g.27362730G>T | CA395298769 | IL4R | c.1378G>T (p.Gly460Cys) c.1333G>T (p.Gly445Cys) c.230-1373G>T (n.230-1373G>T) c.*1421G>T (n.*1421G>T) c.898G>T (p.Gly300Cys) c.487G>T (p.Gly163Cys) c.427G>T (p.Gly143Cys) c.1111G>T (p.Gly371Cys) c.1081G>T (p.Gly361Cys) c.955G>T (p.Gly319Cys) c.*413G>T (n.*413G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362731G>A | CA7974550 | IL4R | c.1379G>A (p.Gly460Asp) c.1334G>A (p.Gly445Asp) c.230-1372G>A (n.230-1372G>A) c.*1422G>A (n.*1422G>A) c.899G>A (p.Gly300Asp) c.488G>A (p.Gly163Asp) c.428G>A (p.Gly143Asp) c.1112G>A (p.Gly371Asp) c.1082G>A (p.Gly361Asp) c.956G>A (p.Gly319Asp) c.*414G>A (n.*414G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362731G>C | CA395298770 | IL4R | c.1379G>C (p.Gly460Ala) c.1334G>C (p.Gly445Ala) c.230-1372G>C (n.230-1372G>C) c.*1422G>C (n.*1422G>C) c.899G>C (p.Gly300Ala) c.488G>C (p.Gly163Ala) c.428G>C (p.Gly143Ala) c.1112G>C (p.Gly371Ala) c.1082G>C (p.Gly361Ala) c.956G>C (p.Gly319Ala) c.*414G>C (n.*414G>C) | |
16 | g.27362731G= | CA2215169692 | IL4R | c.1379G= (p.Gly460=) c.1334G= (p.Gly445=) c.230-1372G= (n.230-1372G=) c.*1422G= (n.*1422G=) c.899G= (p.Gly300=) c.488G= (p.Gly163=) c.428G= (p.Gly143=) c.1112G= (p.Gly371=) c.1082G= (p.Gly361=) c.956G= (p.Gly319=) c.*414G= (n.*414G=) | |
16 | g.27362731G>T | CA7974551 | IL4R | c.1379G>T (p.Gly460Val) c.1334G>T (p.Gly445Val) c.230-1372G>T (n.230-1372G>T) c.*1422G>T (n.*1422G>T) c.899G>T (p.Gly300Val) c.488G>T (p.Gly163Val) c.428G>T (p.Gly143Val) c.1112G>T (p.Gly371Val) c.1082G>T (p.Gly361Val) c.956G>T (p.Gly319Val) c.*414G>T (n.*414G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362732C>A | CA494470575 | IL4R | c.1380C>A (p.Gly460=) c.1335C>A (p.Gly445=) c.230-1371C>A (n.230-1371C>A) c.*1423C>A (n.*1423C>A) c.900C>A (p.Gly300=) c.489C>A (p.Gly163=) c.429C>A (p.Gly143=) c.1113C>A (p.Gly371=) c.1083C>A (p.Gly361=) c.957C>A (p.Gly319=) c.*415C>A (n.*415C>A) | |
16 | g.27362732C= | CA2215169696 | IL4R | c.1380C= (p.Gly460=) c.1335C= (p.Gly445=) c.230-1371C= (n.230-1371C=) c.*1423C= (n.*1423C=) c.900C= (p.Gly300=) c.489C= (p.Gly163=) c.429C= (p.Gly143=) c.1113C= (p.Gly371=) c.1083C= (p.Gly361=) c.957C= (p.Gly319=) c.*415C= (n.*415C=) | |
16 | g.27362732C>G | CA494470576 | IL4R | c.1380C>G (p.Gly460=) c.1335C>G (p.Gly445=) c.230-1371C>G (n.230-1371C>G) c.*1423C>G (n.*1423C>G) c.900C>G (p.Gly300=) c.489C>G (p.Gly163=) c.429C>G (p.Gly143=) c.1113C>G (p.Gly371=) c.1083C>G (p.Gly361=) c.957C>G (p.Gly319=) c.*415C>G (n.*415C>G) | |
16 | g.27362732C>T | CA7974552 | IL4R | c.1380C>T (p.Gly460=) c.1335C>T (p.Gly445=) c.230-1371C>T (n.230-1371C>T) c.*1423C>T (n.*1423C>T) c.900C>T (p.Gly300=) c.489C>T (p.Gly163=) c.429C>T (p.Gly143=) c.1113C>T (p.Gly371=) c.1083C>T (p.Gly361=) c.957C>T (p.Gly319=) c.*415C>T (n.*415C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362733A>C | CA395298771 | IL4R | c.1381A>C (p.Lys461Gln) c.1336A>C (p.Lys446Gln) c.230-1370A>C (n.230-1370A>C) c.*1424A>C (n.*1424A>C) c.901A>C (p.Lys301Gln) c.490A>C (p.Lys164Gln) c.430A>C (p.Lys144Gln) c.1114A>C (p.Lys372Gln) c.1084A>C (p.Lys362Gln) c.958A>C (p.Lys320Gln) c.*416A>C (n.*416A>C) | |
16 | g.27362733A>G | CA395298772 | IL4R | c.1381A>G (p.Lys461Glu) c.1336A>G (p.Lys446Glu) c.230-1370A>G (n.230-1370A>G) c.*1424A>G (n.*1424A>G) c.901A>G (p.Lys301Glu) c.490A>G (p.Lys164Glu) c.430A>G (p.Lys144Glu) c.1114A>G (p.Lys372Glu) c.1084A>G (p.Lys362Glu) c.958A>G (p.Lys320Glu) c.*416A>G (n.*416A>G) | |
16 | g.27362733A>T | CA395298773 | IL4R | c.1381A>T (p.Lys461Ter) c.1336A>T (p.Lys446Ter) c.230-1370A>T (n.230-1370A>T) c.*1424A>T (n.*1424A>T) c.901A>T (p.Lys301Ter) c.490A>T (p.Lys164Ter) c.430A>T (p.Lys144Ter) c.1114A>T (p.Lys372Ter) c.1084A>T (p.Lys362Ter) c.958A>T (p.Lys320Ter) c.*416A>T (n.*416A>T) | |
16 | g.27362734A>C | CA395298776 | IL4R | c.1382A>C (p.Lys461Thr) c.1337A>C (p.Lys446Thr) c.230-1369A>C (n.230-1369A>C) c.*1425A>C (n.*1425A>C) c.902A>C (p.Lys301Thr) c.491A>C (p.Lys164Thr) c.431A>C (p.Lys144Thr) c.1115A>C (p.Lys372Thr) c.1085A>C (p.Lys362Thr) c.959A>C (p.Lys320Thr) c.*417A>C (n.*417A>C) | |
16 | g.27362734A>G | CA395298775 | IL4R | c.1382A>G (p.Lys461Arg) c.1337A>G (p.Lys446Arg) c.230-1369A>G (n.230-1369A>G) c.*1425A>G (n.*1425A>G) c.902A>G (p.Lys301Arg) c.491A>G (p.Lys164Arg) c.431A>G (p.Lys144Arg) c.1115A>G (p.Lys372Arg) c.1085A>G (p.Lys362Arg) c.959A>G (p.Lys320Arg) c.*417A>G (n.*417A>G) | |
16 | g.27362734A>T | CA395298774 | IL4R | c.1382A>T (p.Lys461Met) c.1337A>T (p.Lys446Met) c.230-1369A>T (n.230-1369A>T) c.*1425A>T (n.*1425A>T) c.902A>T (p.Lys301Met) c.491A>T (p.Lys164Met) c.431A>T (p.Lys144Met) c.1115A>T (p.Lys372Met) c.1085A>T (p.Lys362Met) c.959A>T (p.Lys320Met) c.*417A>T (n.*417A>T) | |
16 | g.27362735G>A | CA494470583 | IL4R | c.1383G>A (p.Lys461=) c.1338G>A (p.Lys446=) c.230-1368G>A (n.230-1368G>A) c.*1426G>A (n.*1426G>A) c.903G>A (p.Lys301=) c.492G>A (p.Lys164=) c.432G>A (p.Lys144=) c.1116G>A (p.Lys372=) c.1086G>A (p.Lys362=) c.960G>A (p.Lys320=) c.*418G>A (n.*418G>A) | |
16 | g.27362735G>C | CA395298777 | IL4R | c.1383G>C (p.Lys461Asn) c.1338G>C (p.Lys446Asn) c.230-1368G>C (n.230-1368G>C) c.*1426G>C (n.*1426G>C) c.903G>C (p.Lys301Asn) c.492G>C (p.Lys164Asn) c.432G>C (p.Lys144Asn) c.1116G>C (p.Lys372Asn) c.1086G>C (p.Lys362Asn) c.960G>C (p.Lys320Asn) c.*418G>C (n.*418G>C) | |
16 | g.27362735G>T | CA395298778 | IL4R | c.1383G>T (p.Lys461Asn) c.1338G>T (p.Lys446Asn) c.230-1368G>T (n.230-1368G>T) c.*1426G>T (n.*1426G>T) c.903G>T (p.Lys301Asn) c.492G>T (p.Lys164Asn) c.432G>T (p.Lys144Asn) c.1116G>T (p.Lys372Asn) c.1086G>T (p.Lys362Asn) c.960G>T (p.Lys320Asn) c.*418G>T (n.*418G>T) | |
16 | g.27362736G>A | CA395298779 | IL4R | c.1384G>A (p.Glu462Lys) c.1339G>A (p.Glu447Lys) c.230-1367G>A (n.230-1367G>A) c.*1427G>A (n.*1427G>A) c.904G>A (p.Glu302Lys) c.493G>A (p.Glu165Lys) c.433G>A (p.Glu145Lys) c.1117G>A (p.Glu373Lys) c.1087G>A (p.Glu363Lys) c.961G>A (p.Glu321Lys) c.*419G>A (n.*419G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362736G>C | CA395298780 | IL4R | c.1384G>C (p.Glu462Gln) c.1339G>C (p.Glu447Gln) c.230-1367G>C (n.230-1367G>C) c.*1427G>C (n.*1427G>C) c.904G>C (p.Glu302Gln) c.493G>C (p.Glu165Gln) c.433G>C (p.Glu145Gln) c.1117G>C (p.Glu373Gln) c.1087G>C (p.Glu363Gln) c.961G>C (p.Glu321Gln) c.*419G>C (n.*419G>C) | |
16 | g.27362736G= | CA2215169702 | IL4R | c.1384G= (p.Glu462=) c.1339G= (p.Glu447=) c.230-1367G= (n.230-1367G=) c.*1427G= (n.*1427G=) c.904G= (p.Glu302=) c.493G= (p.Glu165=) c.433G= (p.Glu145=) c.1117G= (p.Glu373=) c.1087G= (p.Glu363=) c.961G= (p.Glu321=) c.*419G= (n.*419G=) | |
16 | g.27362736G>T | CA395298781 | IL4R | c.1384G>T (p.Glu462Ter) c.1339G>T (p.Glu447Ter) c.230-1367G>T (n.230-1367G>T) c.*1427G>T (n.*1427G>T) c.904G>T (p.Glu302Ter) c.493G>T (p.Glu165Ter) c.433G>T (p.Glu145Ter) c.1117G>T (p.Glu373Ter) c.1087G>T (p.Glu363Ter) c.961G>T (p.Glu321Ter) c.*419G>T (n.*419G>T) | |
16 | g.27362737A>C | CA395298782 | IL4R | c.1385A>C (p.Glu462Ala) c.1340A>C (p.Glu447Ala) c.230-1366A>C (n.230-1366A>C) c.*1428A>C (n.*1428A>C) c.905A>C (p.Glu302Ala) c.494A>C (p.Glu165Ala) c.434A>C (p.Glu145Ala) c.1118A>C (p.Glu373Ala) c.1088A>C (p.Glu363Ala) c.962A>C (p.Glu321Ala) c.*420A>C (n.*420A>C) | |
16 | g.27362737A>G | CA395298783 | IL4R | c.1385A>G (p.Glu462Gly) c.1340A>G (p.Glu447Gly) c.230-1366A>G (n.230-1366A>G) c.*1428A>G (n.*1428A>G) c.905A>G (p.Glu302Gly) c.494A>G (p.Glu165Gly) c.434A>G (p.Glu145Gly) c.1118A>G (p.Glu373Gly) c.1088A>G (p.Glu363Gly) c.962A>G (p.Glu321Gly) c.*420A>G (n.*420A>G) | |
16 | g.27362737A>T | CA395298784 | IL4R | c.1385A>T (p.Glu462Val) c.1340A>T (p.Glu447Val) c.230-1366A>T (n.230-1366A>T) c.*1428A>T (n.*1428A>T) c.905A>T (p.Glu302Val) c.494A>T (p.Glu165Val) c.434A>T (p.Glu145Val) c.1118A>T (p.Glu373Val) c.1088A>T (p.Glu363Val) c.962A>T (p.Glu321Val) c.*420A>T (n.*420A>T) | |
16 | g.27362738G>A | CA494470586 | IL4R | c.1386G>A (p.Glu462=) c.1341G>A (p.Glu447=) c.230-1365G>A (n.230-1365G>A) c.*1429G>A (n.*1429G>A) c.906G>A (p.Glu302=) c.495G>A (p.Glu165=) c.435G>A (p.Glu145=) c.1119G>A (p.Glu373=) c.1089G>A (p.Glu363=) c.963G>A (p.Glu321=) c.*421G>A (n.*421G>A) | gnomAD v4 |
16 | g.27362738G>C | CA395298785 | IL4R | c.1386G>C (p.Glu462Asp) c.1341G>C (p.Glu447Asp) c.230-1365G>C (n.230-1365G>C) c.*1429G>C (n.*1429G>C) c.906G>C (p.Glu302Asp) c.495G>C (p.Glu165Asp) c.435G>C (p.Glu145Asp) c.1119G>C (p.Glu373Asp) c.1089G>C (p.Glu363Asp) c.963G>C (p.Glu321Asp) c.*421G>C (n.*421G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362738G= | CA2215169708 | IL4R | c.1386G= (p.Glu462=) c.1341G= (p.Glu447=) c.230-1365G= (n.230-1365G=) c.*1429G= (n.*1429G=) c.906G= (p.Glu302=) c.495G= (p.Glu165=) c.435G= (p.Glu145=) c.1119G= (p.Glu373=) c.1089G= (p.Glu363=) c.963G= (p.Glu321=) c.*421G= (n.*421G=) | |
16 | g.27362738G>T | CA395298786 | IL4R | c.1386G>T (p.Glu462Asp) c.1341G>T (p.Glu447Asp) c.230-1365G>T (n.230-1365G>T) c.*1429G>T (n.*1429G>T) c.906G>T (p.Glu302Asp) c.495G>T (p.Glu165Asp) c.435G>T (p.Glu145Asp) c.1119G>T (p.Glu373Asp) c.1089G>T (p.Glu363Asp) c.963G>T (p.Glu321Asp) c.*421G>T (n.*421G>T) | |
16 | g.27362739C>A | CA395298787 | IL4R | c.1387C>A (p.Gln463Lys) c.1342C>A (p.Gln448Lys) c.230-1364C>A (n.230-1364C>A) c.*1430C>A (n.*1430C>A) c.907C>A (p.Gln303Lys) c.496C>A (p.Gln166Lys) c.436C>A (p.Gln146Lys) c.1120C>A (p.Gln374Lys) c.1090C>A (p.Gln364Lys) c.964C>A (p.Gln322Lys) c.*422C>A (n.*422C>A) | |
16 | g.27362739C= | CA2215169710 | IL4R | c.1387C= (p.Gln463=) c.1342C= (p.Gln448=) c.230-1364C= (n.230-1364C=) c.*1430C= (n.*1430C=) c.907C= (p.Gln303=) c.496C= (p.Gln166=) c.436C= (p.Gln146=) c.1120C= (p.Gln374=) c.1090C= (p.Gln364=) c.964C= (p.Gln322=) c.*422C= (n.*422C=) | |
16 | g.27362739C>G | CA395298788 | IL4R | c.1387C>G (p.Gln463Glu) c.1342C>G (p.Gln448Glu) c.230-1364C>G (n.230-1364C>G) c.*1430C>G (n.*1430C>G) c.907C>G (p.Gln303Glu) c.496C>G (p.Gln166Glu) c.436C>G (p.Gln146Glu) c.1120C>G (p.Gln374Glu) c.1090C>G (p.Gln364Glu) c.964C>G (p.Gln322Glu) c.*422C>G (n.*422C>G) | |
16 | g.27362739C>T | CA395298789 | IL4R | c.1387C>T (p.Gln463Ter) c.1342C>T (p.Gln448Ter) c.230-1364C>T (n.230-1364C>T) c.*1430C>T (n.*1430C>T) c.907C>T (p.Gln303Ter) c.496C>T (p.Gln166Ter) c.436C>T (p.Gln146Ter) c.1120C>T (p.Gln374Ter) c.1090C>T (p.Gln364Ter) c.964C>T (p.Gln322Ter) c.*422C>T (n.*422C>T) | dbSNP gnomAD v2 |
16 | g.27362740A= | CA2215169713 | IL4R | c.1388A= (p.Gln463=) c.1343A= (p.Gln448=) c.230-1363A= (n.230-1363A=) c.*1431A= (n.*1431A=) c.908A= (p.Gln303=) c.497A= (p.Gln166=) c.437A= (p.Gln146=) c.1121A= (p.Gln374=) c.1091A= (p.Gln364=) c.965A= (p.Gln322=) c.*423A= (n.*423A=) | |
16 | g.27362740A>C | CA395298791 | IL4R | c.1388A>C (p.Gln463Pro) c.1343A>C (p.Gln448Pro) c.230-1363A>C (n.230-1363A>C) c.*1431A>C (n.*1431A>C) c.908A>C (p.Gln303Pro) c.497A>C (p.Gln166Pro) c.437A>C (p.Gln146Pro) c.1121A>C (p.Gln374Pro) c.1091A>C (p.Gln364Pro) c.965A>C (p.Gln322Pro) c.*423A>C (n.*423A>C) | |
16 | g.27362740A>G | CA395298792 | IL4R | c.1388A>G (p.Gln463Arg) c.1343A>G (p.Gln448Arg) c.230-1363A>G (n.230-1363A>G) c.*1431A>G (n.*1431A>G) c.908A>G (p.Gln303Arg) c.497A>G (p.Gln166Arg) c.437A>G (p.Gln146Arg) c.1121A>G (p.Gln374Arg) c.1091A>G (p.Gln364Arg) c.965A>G (p.Gln322Arg) c.*423A>G (n.*423A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362740A>T | CA395298790 | IL4R | c.1388A>T (p.Gln463Leu) c.1343A>T (p.Gln448Leu) c.230-1363A>T (n.230-1363A>T) c.*1431A>T (n.*1431A>T) c.908A>T (p.Gln303Leu) c.497A>T (p.Gln166Leu) c.437A>T (p.Gln146Leu) c.1121A>T (p.Gln374Leu) c.1091A>T (p.Gln364Leu) c.965A>T (p.Gln322Leu) c.*423A>T (n.*423A>T) | |
16 | g.27362741G>A | CA494470590 | IL4R | c.1389G>A (p.Gln463=) c.1344G>A (p.Gln448=) c.230-1362G>A (n.230-1362G>A) c.*1432G>A (n.*1432G>A) c.909G>A (p.Gln303=) c.498G>A (p.Gln166=) c.438G>A (p.Gln146=) c.1122G>A (p.Gln374=) c.1092G>A (p.Gln364=) c.966G>A (p.Gln322=) c.*424G>A (n.*424G>A) | gnomAD v4 |
16 | g.27362741G>C | CA395298794 | IL4R | c.1389G>C (p.Gln463His) c.1344G>C (p.Gln448His) c.230-1362G>C (n.230-1362G>C) c.*1432G>C (n.*1432G>C) c.909G>C (p.Gln303His) c.498G>C (p.Gln166His) c.438G>C (p.Gln146His) c.1122G>C (p.Gln374His) c.1092G>C (p.Gln364His) c.966G>C (p.Gln322His) c.*424G>C (n.*424G>C) | |
16 | g.27362741G>T | CA395298793 | IL4R | c.1389G>T (p.Gln463His) c.1344G>T (p.Gln448His) c.230-1362G>T (n.230-1362G>T) c.*1432G>T (n.*1432G>T) c.909G>T (p.Gln303His) c.498G>T (p.Gln166His) c.438G>T (p.Gln146His) c.1122G>T (p.Gln374His) c.1092G>T (p.Gln364His) c.966G>T (p.Gln322His) c.*424G>T (n.*424G>T) | |
16 | g.27362742C>A | CA395298796 | IL4R | c.1390C>A (p.Pro464Thr) c.1345C>A (p.Pro449Thr) c.230-1361C>A (n.230-1361C>A) c.*1433C>A (n.*1433C>A) c.910C>A (p.Pro304Thr) c.499C>A (p.Pro167Thr) c.439C>A (p.Pro147Thr) c.1123C>A (p.Pro375Thr) c.1093C>A (p.Pro365Thr) c.967C>A (p.Pro323Thr) c.*425C>A (n.*425C>A) | |
16 | g.27362742C>G | CA395298795 | IL4R | c.1390C>G (p.Pro464Ala) c.1345C>G (p.Pro449Ala) c.230-1361C>G (n.230-1361C>G) c.*1433C>G (n.*1433C>G) c.910C>G (p.Pro304Ala) c.499C>G (p.Pro167Ala) c.439C>G (p.Pro147Ala) c.1123C>G (p.Pro375Ala) c.1093C>G (p.Pro365Ala) c.967C>G (p.Pro323Ala) c.*425C>G (n.*425C>G) | |
16 | g.27362742C>T | CA395298797 | IL4R | c.1390C>T (p.Pro464Ser) c.1345C>T (p.Pro449Ser) c.230-1361C>T (n.230-1361C>T) c.*1433C>T (n.*1433C>T) c.910C>T (p.Pro304Ser) c.499C>T (p.Pro167Ser) c.439C>T (p.Pro147Ser) c.1123C>T (p.Pro375Ser) c.1093C>T (p.Pro365Ser) c.967C>T (p.Pro323Ser) c.*425C>T (n.*425C>T) | gnomAD v4 |
16 | g.27362743C>A | CA395298798 | IL4R | c.1391C>A (p.Pro464His) c.1346C>A (p.Pro449His) c.230-1360C>A (n.230-1360C>A) c.*1434C>A (n.*1434C>A) c.911C>A (p.Pro304His) c.500C>A (p.Pro167His) c.440C>A (p.Pro147His) c.1124C>A (p.Pro375His) c.1094C>A (p.Pro365His) c.968C>A (p.Pro323His) c.*426C>A (n.*426C>A) | COSMIC |
16 | g.27362743C>G | CA395298800 | IL4R | c.1391C>G (p.Pro464Arg) c.1346C>G (p.Pro449Arg) c.230-1360C>G (n.230-1360C>G) c.*1434C>G (n.*1434C>G) c.911C>G (p.Pro304Arg) c.500C>G (p.Pro167Arg) c.440C>G (p.Pro147Arg) c.1124C>G (p.Pro375Arg) c.1094C>G (p.Pro365Arg) c.968C>G (p.Pro323Arg) c.*426C>G (n.*426C>G) | |
16 | g.27362743C>T | CA395298799 | IL4R | c.1391C>T (p.Pro464Leu) c.1346C>T (p.Pro449Leu) c.230-1360C>T (n.230-1360C>T) c.*1434C>T (n.*1434C>T) c.911C>T (p.Pro304Leu) c.500C>T (p.Pro167Leu) c.440C>T (p.Pro147Leu) c.1124C>T (p.Pro375Leu) c.1094C>T (p.Pro365Leu) c.968C>T (p.Pro323Leu) c.*426C>T (n.*426C>T) | gnomAD v4 |
16 | g.27362744T>A | CA494470594 | IL4R | c.1392T>A (p.Pro464=) c.1347T>A (p.Pro449=) c.230-1359T>A (n.230-1359T>A) c.*1435T>A (n.*1435T>A) c.912T>A (p.Pro304=) c.501T>A (p.Pro167=) c.441T>A (p.Pro147=) c.1125T>A (p.Pro375=) c.1095T>A (p.Pro365=) c.969T>A (p.Pro323=) c.*427T>A (n.*427T>A) | |
16 | g.27362744T>C | CA494470595 | IL4R | c.1392T>C (p.Pro464=) c.1347T>C (p.Pro449=) c.230-1359T>C (n.230-1359T>C) c.*1435T>C (n.*1435T>C) c.912T>C (p.Pro304=) c.501T>C (p.Pro167=) c.441T>C (p.Pro147=) c.1125T>C (p.Pro375=) c.1095T>C (p.Pro365=) c.969T>C (p.Pro323=) c.*427T>C (n.*427T>C) | |
16 | g.27362744T>G | CA494470596 | IL4R | c.1392T>G (p.Pro464=) c.1347T>G (p.Pro449=) c.230-1359T>G (n.230-1359T>G) c.*1435T>G (n.*1435T>G) c.912T>G (p.Pro304=) c.501T>G (p.Pro167=) c.441T>G (p.Pro147=) c.1125T>G (p.Pro375=) c.1095T>G (p.Pro365=) c.969T>G (p.Pro323=) c.*427T>G (n.*427T>G) | |
16 | g.27362745C>A | CA395298801 | IL4R | c.1393C>A (p.Leu465Ile) c.1348C>A (p.Leu450Ile) c.230-1358C>A (n.230-1358C>A) c.*1436C>A (n.*1436C>A) c.913C>A (p.Leu305Ile) c.502C>A (p.Leu168Ile) c.442C>A (p.Leu148Ile) c.1126C>A (p.Leu376Ile) c.1096C>A (p.Leu366Ile) c.970C>A (p.Leu324Ile) c.*428C>A (n.*428C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362745C= | CA2215169714 | IL4R | c.1393C= (p.Leu465=) c.1348C= (p.Leu450=) c.230-1358C= (n.230-1358C=) c.*1436C= (n.*1436C=) c.913C= (p.Leu305=) c.502C= (p.Leu168=) c.442C= (p.Leu148=) c.1126C= (p.Leu376=) c.1096C= (p.Leu366=) c.970C= (p.Leu324=) c.*428C= (n.*428C=) | |
16 | g.27362745C>G | CA395298802 | IL4R | c.1393C>G (p.Leu465Val) c.1348C>G (p.Leu450Val) c.230-1358C>G (n.230-1358C>G) c.*1436C>G (n.*1436C>G) c.913C>G (p.Leu305Val) c.502C>G (p.Leu168Val) c.442C>G (p.Leu148Val) c.1126C>G (p.Leu376Val) c.1096C>G (p.Leu366Val) c.970C>G (p.Leu324Val) c.*428C>G (n.*428C>G) | gnomAD v4 |
16 | g.27362745C>T | CA395298803 | IL4R | c.1393C>T (p.Leu465Phe) c.1348C>T (p.Leu450Phe) c.230-1358C>T (n.230-1358C>T) c.*1436C>T (n.*1436C>T) c.913C>T (p.Leu305Phe) c.502C>T (p.Leu168Phe) c.442C>T (p.Leu148Phe) c.1126C>T (p.Leu376Phe) c.1096C>T (p.Leu366Phe) c.970C>T (p.Leu324Phe) c.*428C>T (n.*428C>T) | dbSNP gnomAD v4 |
16 | g.27362746T>A | CA395298804 | IL4R | c.1394T>A (p.Leu465His) c.1349T>A (p.Leu450His) c.230-1357T>A (n.230-1357T>A) c.*1437T>A (n.*1437T>A) c.914T>A (p.Leu305His) c.503T>A (p.Leu168His) c.443T>A (p.Leu148His) c.1127T>A (p.Leu376His) c.1097T>A (p.Leu366His) c.971T>A (p.Leu324His) c.*429T>A (n.*429T>A) | |
16 | g.27362746T>C | CA395298805 | IL4R | c.1394T>C (p.Leu465Pro) c.1349T>C (p.Leu450Pro) c.230-1357T>C (n.230-1357T>C) c.*1437T>C (n.*1437T>C) c.914T>C (p.Leu305Pro) c.503T>C (p.Leu168Pro) c.443T>C (p.Leu148Pro) c.1127T>C (p.Leu376Pro) c.1097T>C (p.Leu366Pro) c.971T>C (p.Leu324Pro) c.*429T>C (n.*429T>C) | |
16 | g.27362746T>G | CA395298806 | IL4R | c.1394T>G (p.Leu465Arg) c.1349T>G (p.Leu450Arg) c.230-1357T>G (n.230-1357T>G) c.*1437T>G (n.*1437T>G) c.914T>G (p.Leu305Arg) c.503T>G (p.Leu168Arg) c.443T>G (p.Leu148Arg) c.1127T>G (p.Leu376Arg) c.1097T>G (p.Leu366Arg) c.971T>G (p.Leu324Arg) c.*429T>G (n.*429T>G) | |
16 | g.27362747C>A | CA494470602 | IL4R | c.1395C>A (p.Leu465=) c.1350C>A (p.Leu450=) c.230-1356C>A (n.230-1356C>A) c.*1438C>A (n.*1438C>A) c.915C>A (p.Leu305=) c.504C>A (p.Leu168=) c.444C>A (p.Leu148=) c.1128C>A (p.Leu376=) c.1098C>A (p.Leu366=) c.972C>A (p.Leu324=) c.*430C>A (n.*430C>A) | |
16 | g.27362747C>G | CA494470601 | IL4R | c.1395C>G (p.Leu465=) c.1350C>G (p.Leu450=) c.230-1356C>G (n.230-1356C>G) c.*1438C>G (n.*1438C>G) c.915C>G (p.Leu305=) c.504C>G (p.Leu168=) c.444C>G (p.Leu148=) c.1128C>G (p.Leu376=) c.1098C>G (p.Leu366=) c.972C>G (p.Leu324=) c.*430C>G (n.*430C>G) | gnomAD v4 |
16 | g.27362747C>T | CA494470600 | IL4R | c.1395C>T (p.Leu465=) c.1350C>T (p.Leu450=) c.230-1356C>T (n.230-1356C>T) c.*1438C>T (n.*1438C>T) c.915C>T (p.Leu305=) c.504C>T (p.Leu168=) c.444C>T (p.Leu148=) c.1128C>T (p.Leu376=) c.1098C>T (p.Leu366=) c.972C>T (p.Leu324=) c.*430C>T (n.*430C>T) | |
16 | g.27362748C>A | CA395298807 | IL4R | c.1396C>A (p.His466Asn) c.1351C>A (p.His451Asn) c.230-1355C>A (n.230-1355C>A) c.*1439C>A (n.*1439C>A) c.916C>A (p.His306Asn) c.505C>A (p.His169Asn) c.445C>A (p.His149Asn) c.1129C>A (p.His377Asn) c.1099C>A (p.His367Asn) c.973C>A (p.His325Asn) c.*431C>A (n.*431C>A) | |
16 | g.27362748C= | CA2215169721 | IL4R | c.1396C= (p.His466=) c.1351C= (p.His451=) c.230-1355C= (n.230-1355C=) c.*1439C= (n.*1439C=) c.916C= (p.His306=) c.505C= (p.His169=) c.445C= (p.His149=) c.1129C= (p.His377=) c.1099C= (p.His367=) c.973C= (p.His325=) c.*431C= (n.*431C=) | |
16 | g.27362748C>G | CA395298808 | IL4R | c.1396C>G (p.His466Asp) c.1351C>G (p.His451Asp) c.230-1355C>G (n.230-1355C>G) c.*1439C>G (n.*1439C>G) c.916C>G (p.His306Asp) c.505C>G (p.His169Asp) c.445C>G (p.His149Asp) c.1129C>G (p.His377Asp) c.1099C>G (p.His367Asp) c.973C>G (p.His325Asp) c.*431C>G (n.*431C>G) | |
16 | g.27362748C>T | CA7974553 | IL4R | c.1396C>T (p.His466Tyr) c.1351C>T (p.His451Tyr) c.230-1355C>T (n.230-1355C>T) c.*1439C>T (n.*1439C>T) c.916C>T (p.His306Tyr) c.505C>T (p.His169Tyr) c.445C>T (p.His149Tyr) c.1129C>T (p.His377Tyr) c.1099C>T (p.His367Tyr) c.973C>T (p.His325Tyr) c.*431C>T (n.*431C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362749A>C | CA395298809 | IL4R | c.1397A>C (p.His466Pro) c.1352A>C (p.His451Pro) c.230-1354A>C (n.230-1354A>C) c.*1440A>C (n.*1440A>C) c.917A>C (p.His306Pro) c.506A>C (p.His169Pro) c.446A>C (p.His149Pro) c.1130A>C (p.His377Pro) c.1100A>C (p.His367Pro) c.974A>C (p.His325Pro) c.*432A>C (n.*432A>C) | |
16 | g.27362749A>G | CA395298810 | IL4R | c.1397A>G (p.His466Arg) c.1352A>G (p.His451Arg) c.230-1354A>G (n.230-1354A>G) c.*1440A>G (n.*1440A>G) c.917A>G (p.His306Arg) c.506A>G (p.His169Arg) c.446A>G (p.His149Arg) c.1130A>G (p.His377Arg) c.1100A>G (p.His367Arg) c.974A>G (p.His325Arg) c.*432A>G (n.*432A>G) | |
16 | g.27362749A>T | CA395298811 | IL4R | c.1397A>T (p.His466Leu) c.1352A>T (p.His451Leu) c.230-1354A>T (n.230-1354A>T) c.*1440A>T (n.*1440A>T) c.917A>T (p.His306Leu) c.506A>T (p.His169Leu) c.446A>T (p.His149Leu) c.1130A>T (p.His377Leu) c.1100A>T (p.His367Leu) c.974A>T (p.His325Leu) c.*432A>T (n.*432A>T) | |
16 | g.27362750C>A | CA395298812 | IL4R | c.1398C>A (p.His466Gln) c.1353C>A (p.His451Gln) c.230-1353C>A (n.230-1353C>A) c.*1441C>A (n.*1441C>A) c.918C>A (p.His306Gln) c.507C>A (p.His169Gln) c.447C>A (p.His149Gln) c.1131C>A (p.His377Gln) c.1101C>A (p.His367Gln) c.975C>A (p.His325Gln) c.*433C>A (n.*433C>A) | |
16 | g.27362750C= | CA2215169722 | IL4R | c.1398C= (p.His466=) c.1353C= (p.His451=) c.230-1353C= (n.230-1353C=) c.*1441C= (n.*1441C=) c.918C= (p.His306=) c.507C= (p.His169=) c.447C= (p.His149=) c.1131C= (p.His377=) c.1101C= (p.His367=) c.975C= (p.His325=) c.*433C= (n.*433C=) | |
16 | g.27362750C>G | CA395298813 | IL4R | c.1398C>G (p.His466Gln) c.1353C>G (p.His451Gln) c.230-1353C>G (n.230-1353C>G) c.*1441C>G (n.*1441C>G) c.918C>G (p.His306Gln) c.507C>G (p.His169Gln) c.447C>G (p.His149Gln) c.1131C>G (p.His377Gln) c.1101C>G (p.His367Gln) c.975C>G (p.His325Gln) c.*433C>G (n.*433C>G) | |
16 | g.27362750C>T | CA494470604 | IL4R | c.1398C>T (p.His466=) c.1353C>T (p.His451=) c.230-1353C>T (n.230-1353C>T) c.*1441C>T (n.*1441C>T) c.918C>T (p.His306=) c.507C>T (p.His169=) c.447C>T (p.His149=) c.1131C>T (p.His377=) c.1101C>T (p.His367=) c.975C>T (p.His325=) c.*433C>T (n.*433C>T) | dbSNP |
16 | g.27362751C>A | CA395298814 | IL4R | c.1399C>A (p.Leu467Met) c.1354C>A (p.Leu452Met) c.230-1352C>A (n.230-1352C>A) c.*1442C>A (n.*1442C>A) c.919C>A (p.Leu307Met) c.508C>A (p.Leu170Met) c.448C>A (p.Leu150Met) c.1132C>A (p.Leu378Met) c.1102C>A (p.Leu368Met) c.976C>A (p.Leu326Met) c.*434C>A (n.*434C>A) | |
16 | g.27362751C= | CA2215169723 | IL4R | c.1399C= (p.Leu467=) c.1354C= (p.Leu452=) c.230-1352C= (n.230-1352C=) c.*1442C= (n.*1442C=) c.919C= (p.Leu307=) c.508C= (p.Leu170=) c.448C= (p.Leu150=) c.1132C= (p.Leu378=) c.1102C= (p.Leu368=) c.976C= (p.Leu326=) c.*434C= (n.*434C=) | |
16 | g.27362751C>G | CA395298815 | IL4R | c.1399C>G (p.Leu467Val) c.1354C>G (p.Leu452Val) c.230-1352C>G (n.230-1352C>G) c.*1442C>G (n.*1442C>G) c.919C>G (p.Leu307Val) c.508C>G (p.Leu170Val) c.448C>G (p.Leu150Val) c.1132C>G (p.Leu378Val) c.1102C>G (p.Leu368Val) c.976C>G (p.Leu326Val) c.*434C>G (n.*434C>G) | |
16 | g.27362751C>T | CA494470606 | IL4R | c.1399C>T (p.Leu467=) c.1354C>T (p.Leu452=) c.230-1352C>T (n.230-1352C>T) c.*1442C>T (n.*1442C>T) c.919C>T (p.Leu307=) c.508C>T (p.Leu170=) c.448C>T (p.Leu150=) c.1132C>T (p.Leu378=) c.1102C>T (p.Leu368=) c.976C>T (p.Leu326=) c.*434C>T (n.*434C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362752T>A | CA395298816 | IL4R | c.1400T>A (p.Leu467Gln) c.1355T>A (p.Leu452Gln) c.230-1351T>A (n.230-1351T>A) c.*1443T>A (n.*1443T>A) c.920T>A (p.Leu307Gln) c.509T>A (p.Leu170Gln) c.449T>A (p.Leu150Gln) c.1133T>A (p.Leu378Gln) c.1103T>A (p.Leu368Gln) c.977T>A (p.Leu326Gln) c.*435T>A (n.*435T>A) | |
16 | g.27362752T>C | CA395298817 | IL4R | c.1400T>C (p.Leu467Pro) c.1355T>C (p.Leu452Pro) c.230-1351T>C (n.230-1351T>C) c.*1443T>C (n.*1443T>C) c.920T>C (p.Leu307Pro) c.509T>C (p.Leu170Pro) c.449T>C (p.Leu150Pro) c.1133T>C (p.Leu378Pro) c.1103T>C (p.Leu368Pro) c.977T>C (p.Leu326Pro) c.*435T>C (n.*435T>C) | |
16 | g.27362752T>G | CA395298818 | IL4R | c.1400T>G (p.Leu467Arg) c.1355T>G (p.Leu452Arg) c.230-1351T>G (n.230-1351T>G) c.*1443T>G (n.*1443T>G) c.920T>G (p.Leu307Arg) c.509T>G (p.Leu170Arg) c.449T>G (p.Leu150Arg) c.1133T>G (p.Leu378Arg) c.1103T>G (p.Leu368Arg) c.977T>G (p.Leu326Arg) c.*435T>G (n.*435T>G) | |
16 | g.27362753G>A | CA494470607 | IL4R | c.1401G>A (p.Leu467=) c.1356G>A (p.Leu452=) c.230-1350G>A (n.230-1350G>A) c.*1444G>A (n.*1444G>A) c.921G>A (p.Leu307=) c.510G>A (p.Leu170=) c.450G>A (p.Leu150=) c.1134G>A (p.Leu378=) c.1104G>A (p.Leu368=) c.978G>A (p.Leu326=) c.*436G>A (n.*436G>A) | gnomAD v4 |
16 | g.27362753G>C | CA494470609 | IL4R | c.1401G>C (p.Leu467=) c.1356G>C (p.Leu452=) c.230-1350G>C (n.230-1350G>C) c.*1444G>C (n.*1444G>C) c.921G>C (p.Leu307=) c.510G>C (p.Leu170=) c.450G>C (p.Leu150=) c.1134G>C (p.Leu378=) c.1104G>C (p.Leu368=) c.978G>C (p.Leu326=) c.*436G>C (n.*436G>C) | |
16 | g.27362753G>T | CA494470608 | IL4R | c.1401G>T (p.Leu467=) c.1356G>T (p.Leu452=) c.230-1350G>T (n.230-1350G>T) c.*1444G>T (n.*1444G>T) c.921G>T (p.Leu307=) c.510G>T (p.Leu170=) c.450G>T (p.Leu150=) c.1134G>T (p.Leu378=) c.1104G>T (p.Leu368=) c.978G>T (p.Leu326=) c.*436G>T (n.*436G>T) | |
16 | g.27362754G>A | CA395298819 | IL4R | c.1402G>A (p.Glu468Lys) c.1357G>A (p.Glu453Lys) c.230-1349G>A (n.230-1349G>A) c.*1445G>A (n.*1445G>A) c.922G>A (p.Glu308Lys) c.511G>A (p.Glu171Lys) c.451G>A (p.Glu151Lys) c.1135G>A (p.Glu379Lys) c.1105G>A (p.Glu369Lys) c.979G>A (p.Glu327Lys) c.*437G>A (n.*437G>A) | |
16 | g.27362754G>C | CA395298820 | IL4R | c.1402G>C (p.Glu468Gln) c.1357G>C (p.Glu453Gln) c.230-1349G>C (n.230-1349G>C) c.*1445G>C (n.*1445G>C) c.922G>C (p.Glu308Gln) c.511G>C (p.Glu171Gln) c.451G>C (p.Glu151Gln) c.1135G>C (p.Glu379Gln) c.1105G>C (p.Glu369Gln) c.979G>C (p.Glu327Gln) c.*437G>C (n.*437G>C) | |
16 | g.27362754G>T | CA395298821 | IL4R | c.1402G>T (p.Glu468Ter) c.1357G>T (p.Glu453Ter) c.230-1349G>T (n.230-1349G>T) c.*1445G>T (n.*1445G>T) c.922G>T (p.Glu308Ter) c.511G>T (p.Glu171Ter) c.451G>T (p.Glu151Ter) c.1135G>T (p.Glu379Ter) c.1105G>T (p.Glu369Ter) c.979G>T (p.Glu327Ter) c.*437G>T (n.*437G>T) | |
16 | g.27362755A>C | CA395298822 | IL4R | c.1403A>C (p.Glu468Ala) c.1358A>C (p.Glu453Ala) c.230-1348A>C (n.230-1348A>C) c.*1446A>C (n.*1446A>C) c.923A>C (p.Glu308Ala) c.512A>C (p.Glu171Ala) c.452A>C (p.Glu151Ala) c.1136A>C (p.Glu379Ala) c.1106A>C (p.Glu369Ala) c.980A>C (p.Glu327Ala) c.*438A>C (n.*438A>C) | |
16 | g.27362755A>G | CA395298823 | IL4R | c.1403A>G (p.Glu468Gly) c.1358A>G (p.Glu453Gly) c.230-1348A>G (n.230-1348A>G) c.*1446A>G (n.*1446A>G) c.923A>G (p.Glu308Gly) c.512A>G (p.Glu171Gly) c.452A>G (p.Glu151Gly) c.1136A>G (p.Glu379Gly) c.1106A>G (p.Glu369Gly) c.980A>G (p.Glu327Gly) c.*438A>G (n.*438A>G) | |
16 | g.27362755A>T | CA395298824 | IL4R | c.1403A>T (p.Glu468Val) c.1358A>T (p.Glu453Val) c.230-1348A>T (n.230-1348A>T) c.*1446A>T (n.*1446A>T) c.923A>T (p.Glu308Val) c.512A>T (p.Glu171Val) c.452A>T (p.Glu151Val) c.1136A>T (p.Glu379Val) c.1106A>T (p.Glu369Val) c.980A>T (p.Glu327Val) c.*438A>T (n.*438A>T) | |
16 | g.27362756G>A | CA7974554 | IL4R | c.1404G>A (p.Glu468=) c.1359G>A (p.Glu453=) c.230-1347G>A (n.230-1347G>A) c.*1447G>A (n.*1447G>A) c.924G>A (p.Glu308=) c.513G>A (p.Glu171=) c.453G>A (p.Glu151=) c.1137G>A (p.Glu379=) c.1107G>A (p.Glu369=) c.981G>A (p.Glu327=) c.*439G>A (n.*439G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362756G>C | CA395298825 | IL4R | c.1404G>C (p.Glu468Asp) c.1359G>C (p.Glu453Asp) c.230-1347G>C (n.230-1347G>C) c.*1447G>C (n.*1447G>C) c.924G>C (p.Glu308Asp) c.513G>C (p.Glu171Asp) c.453G>C (p.Glu151Asp) c.1137G>C (p.Glu379Asp) c.1107G>C (p.Glu369Asp) c.981G>C (p.Glu327Asp) c.*439G>C (n.*439G>C) | |
16 | g.27362756G= | CA2215169729 | IL4R | c.1404G= (p.Glu468=) c.1359G= (p.Glu453=) c.230-1347G= (n.230-1347G=) c.*1447G= (n.*1447G=) c.924G= (p.Glu308=) c.513G= (p.Glu171=) c.453G= (p.Glu151=) c.1137G= (p.Glu379=) c.1107G= (p.Glu369=) c.981G= (p.Glu327=) c.*439G= (n.*439G=) | |
16 | g.27362756G>T | CA395298826 | IL4R | c.1404G>T (p.Glu468Asp) c.1359G>T (p.Glu453Asp) c.230-1347G>T (n.230-1347G>T) c.*1447G>T (n.*1447G>T) c.924G>T (p.Glu308Asp) c.513G>T (p.Glu171Asp) c.453G>T (p.Glu151Asp) c.1137G>T (p.Glu379Asp) c.1107G>T (p.Glu369Asp) c.981G>T (p.Glu327Asp) c.*439G>T (n.*439G>T) | |
16 | g.27362757C>A | CA395298827 | IL4R | c.1405C>A (p.Pro469Thr) c.1360C>A (p.Pro454Thr) c.230-1346C>A (n.230-1346C>A) c.*1448C>A (n.*1448C>A) c.925C>A (p.Pro309Thr) c.514C>A (p.Pro172Thr) c.454C>A (p.Pro152Thr) c.1138C>A (p.Pro380Thr) c.1108C>A (p.Pro370Thr) c.982C>A (p.Pro328Thr) c.*440C>A (n.*440C>A) | |
16 | g.27362757C>G | CA395298829 | IL4R | c.1405C>G (p.Pro469Ala) c.1360C>G (p.Pro454Ala) c.230-1346C>G (n.230-1346C>G) c.*1448C>G (n.*1448C>G) c.925C>G (p.Pro309Ala) c.514C>G (p.Pro172Ala) c.454C>G (p.Pro152Ala) c.1138C>G (p.Pro380Ala) c.1108C>G (p.Pro370Ala) c.982C>G (p.Pro328Ala) c.*440C>G (n.*440C>G) | |
16 | g.27362757C>T | CA395298828 | IL4R | c.1405C>T (p.Pro469Ser) c.1360C>T (p.Pro454Ser) c.230-1346C>T (n.230-1346C>T) c.*1448C>T (n.*1448C>T) c.925C>T (p.Pro309Ser) c.514C>T (p.Pro172Ser) c.454C>T (p.Pro152Ser) c.1138C>T (p.Pro380Ser) c.1108C>T (p.Pro370Ser) c.982C>T (p.Pro328Ser) c.*440C>T (n.*440C>T) | |
16 | g.27362758C>A | CA395298830 | IL4R | c.1406C>A (p.Pro469Gln) c.1361C>A (p.Pro454Gln) c.230-1345C>A (n.230-1345C>A) c.*1449C>A (n.*1449C>A) c.926C>A (p.Pro309Gln) c.515C>A (p.Pro172Gln) c.455C>A (p.Pro152Gln) c.1139C>A (p.Pro380Gln) c.1109C>A (p.Pro370Gln) c.983C>A (p.Pro328Gln) c.*441C>A (n.*441C>A) | |
16 | g.27362758C>G | CA395298831 | IL4R | c.1406C>G (p.Pro469Arg) c.1361C>G (p.Pro454Arg) c.230-1345C>G (n.230-1345C>G) c.*1449C>G (n.*1449C>G) c.926C>G (p.Pro309Arg) c.515C>G (p.Pro172Arg) c.455C>G (p.Pro152Arg) c.1139C>G (p.Pro380Arg) c.1109C>G (p.Pro370Arg) c.983C>G (p.Pro328Arg) c.*441C>G (n.*441C>G) | |
16 | g.27362758C>T | CA395298832 | IL4R | c.1406C>T (p.Pro469Leu) c.1361C>T (p.Pro454Leu) c.230-1345C>T (n.230-1345C>T) c.*1449C>T (n.*1449C>T) c.926C>T (p.Pro309Leu) c.515C>T (p.Pro172Leu) c.455C>T (p.Pro152Leu) c.1139C>T (p.Pro380Leu) c.1109C>T (p.Pro370Leu) c.983C>T (p.Pro328Leu) c.*441C>T (n.*441C>T) | |
16 | g.27362759A>C | CA494470613 | IL4R | c.1407A>C (p.Pro469=) c.1362A>C (p.Pro454=) c.230-1344A>C (n.230-1344A>C) c.*1450A>C (n.*1450A>C) c.927A>C (p.Pro309=) c.516A>C (p.Pro172=) c.456A>C (p.Pro152=) c.1140A>C (p.Pro380=) c.1110A>C (p.Pro370=) c.984A>C (p.Pro328=) c.*442A>C (n.*442A>C) | |
16 | g.27362759A>G | CA494470612 | IL4R | c.1407A>G (p.Pro469=) c.1362A>G (p.Pro454=) c.230-1344A>G (n.230-1344A>G) c.*1450A>G (n.*1450A>G) c.927A>G (p.Pro309=) c.516A>G (p.Pro172=) c.456A>G (p.Pro152=) c.1140A>G (p.Pro380=) c.1110A>G (p.Pro370=) c.984A>G (p.Pro328=) c.*442A>G (n.*442A>G) | |
16 | g.27362759A>T | CA494470614 | IL4R | c.1407A>T (p.Pro469=) c.1362A>T (p.Pro454=) c.230-1344A>T (n.230-1344A>T) c.*1450A>T (n.*1450A>T) c.927A>T (p.Pro309=) c.516A>T (p.Pro172=) c.456A>T (p.Pro152=) c.1140A>T (p.Pro380=) c.1110A>T (p.Pro370=) c.984A>T (p.Pro328=) c.*442A>T (n.*442A>T) | |
16 | g.27362760A>C | CA395298833 | IL4R | c.1408A>C (p.Ser470Arg) c.1363A>C (p.Ser455Arg) c.230-1343A>C (n.230-1343A>C) c.*1451A>C (n.*1451A>C) c.928A>C (p.Ser310Arg) c.517A>C (p.Ser173Arg) c.457A>C (p.Ser153Arg) c.1141A>C (p.Ser381Arg) c.1111A>C (p.Ser371Arg) c.985A>C (p.Ser329Arg) c.*443A>C (n.*443A>C) | |
16 | g.27362760A>G | CA395298834 | IL4R | c.1408A>G (p.Ser470Gly) c.1363A>G (p.Ser455Gly) c.230-1343A>G (n.230-1343A>G) c.*1451A>G (n.*1451A>G) c.928A>G (p.Ser310Gly) c.517A>G (p.Ser173Gly) c.457A>G (p.Ser153Gly) c.1141A>G (p.Ser381Gly) c.1111A>G (p.Ser371Gly) c.985A>G (p.Ser329Gly) c.*443A>G (n.*443A>G) | |
16 | g.27362760A>T | CA395298835 | IL4R | c.1408A>T (p.Ser470Cys) c.1363A>T (p.Ser455Cys) c.230-1343A>T (n.230-1343A>T) c.*1451A>T (n.*1451A>T) c.928A>T (p.Ser310Cys) c.517A>T (p.Ser173Cys) c.457A>T (p.Ser153Cys) c.1141A>T (p.Ser381Cys) c.1111A>T (p.Ser371Cys) c.985A>T (p.Ser329Cys) c.*443A>T (n.*443A>T) | |
16 | g.27362761G>A | CA395298836 | IL4R | c.1409G>A (p.Ser470Asn) c.1364G>A (p.Ser455Asn) c.230-1342G>A (n.230-1342G>A) c.*1452G>A (n.*1452G>A) c.929G>A (p.Ser310Asn) c.518G>A (p.Ser173Asn) c.458G>A (p.Ser153Asn) c.1142G>A (p.Ser381Asn) c.1112G>A (p.Ser371Asn) c.986G>A (p.Ser329Asn) c.*444G>A (n.*444G>A) | |
16 | g.27362761G>C | CA395298837 | IL4R | c.1409G>C (p.Ser470Thr) c.1364G>C (p.Ser455Thr) c.230-1342G>C (n.230-1342G>C) c.*1452G>C (n.*1452G>C) c.929G>C (p.Ser310Thr) c.518G>C (p.Ser173Thr) c.458G>C (p.Ser153Thr) c.1142G>C (p.Ser381Thr) c.1112G>C (p.Ser371Thr) c.986G>C (p.Ser329Thr) c.*444G>C (n.*444G>C) | gnomAD v4 |
16 | g.27362761G>T | CA395298838 | IL4R | c.1409G>T (p.Ser470Ile) c.1364G>T (p.Ser455Ile) c.230-1342G>T (n.230-1342G>T) c.*1452G>T (n.*1452G>T) c.929G>T (p.Ser310Ile) c.518G>T (p.Ser173Ile) c.458G>T (p.Ser153Ile) c.1142G>T (p.Ser381Ile) c.1112G>T (p.Ser371Ile) c.986G>T (p.Ser329Ile) c.*444G>T (n.*444G>T) | gnomAD v4 |
16 | g.27362761_27362764delinsGTCC | CA2215169732 | IL4R | c.1409_1412delinsGTCC (p.Ser470=) c.1364_1367delinsGTCC (p.Ser455=) c.230-1342_230-1339delinsGTCC (n.230-1342_230-1339delinsGTCC) c.*1452_*1455delinsGTCC (n.*1452_*1455delinsGTCC) c.929_932delinsGTCC (p.Ser310=) c.518_521delinsGTCC (p.Ser173=) c.458_461delinsGTCC (p.Ser153=) c.1142_1145delinsGTCC (p.Ser381=) c.1112_1115delinsGTCC (p.Ser371=) c.986_989delinsGTCC (p.Ser329=) c.*444_*447delinsGTCC (n.*444_*447delinsGTCC) | |
16 | g.27362762T>A | CA395298839 | IL4R | c.1410T>A (p.Ser470Arg) c.1365T>A (p.Ser455Arg) c.230-1341T>A (n.230-1341T>A) c.*1453T>A (n.*1453T>A) c.930T>A (p.Ser310Arg) c.519T>A (p.Ser173Arg) c.459T>A (p.Ser153Arg) c.1143T>A (p.Ser381Arg) c.1113T>A (p.Ser371Arg) c.987T>A (p.Ser329Arg) c.*445T>A (n.*445T>A) | |
16 | g.27362762T>C | CA494470616 | IL4R | c.1410T>C (p.Ser470=) c.1365T>C (p.Ser455=) c.230-1341T>C (n.230-1341T>C) c.*1453T>C (n.*1453T>C) c.930T>C (p.Ser310=) c.519T>C (p.Ser173=) c.459T>C (p.Ser153=) c.1143T>C (p.Ser381=) c.1113T>C (p.Ser371=) c.987T>C (p.Ser329=) c.*445T>C (n.*445T>C) | |
16 | g.27362762T>G | CA395298840 | IL4R | c.1410T>G (p.Ser470Arg) c.1365T>G (p.Ser455Arg) c.230-1341T>G (n.230-1341T>G) c.*1453T>G (n.*1453T>G) c.930T>G (p.Ser310Arg) c.519T>G (p.Ser173Arg) c.459T>G (p.Ser153Arg) c.1143T>G (p.Ser381Arg) c.1113T>G (p.Ser371Arg) c.987T>G (p.Ser329Arg) c.*445T>G (n.*445T>G) | dbSNP |
16 | g.27362762T= | CA2215169733 | IL4R | c.1410T= (p.Ser470=) c.1365T= (p.Ser455=) c.230-1341T= (n.230-1341T=) c.*1453T= (n.*1453T=) c.930T= (p.Ser310=) c.519T= (p.Ser173=) c.459T= (p.Ser153=) c.1143T= (p.Ser381=) c.1113T= (p.Ser371=) c.987T= (p.Ser329=) c.*445T= (n.*445T=) | |
16 | g.27362766_27362768del | CA919683175 | IL4R | c.1414_1416del (p.Pro472del) c.1369_1371del (p.Pro457del) c.230-1337_230-1335del (n.230-1337_230-1335del) c.*1457_*1459del (n.*1457_*1459del) c.934_936del (p.Pro312del) c.523_525del (p.Pro175del) c.463_465del (p.Pro155del) c.1147_1149del (p.Pro383del) c.1117_1119del (p.Pro373del) c.991_993del (p.Pro331del) c.*449_*451del (n.*449_*451del) | dbSNP gnomAD v4 |
16 | g.27362763C>A | CA395298843 | IL4R | c.1411C>A (p.Pro471Thr) c.1366C>A (p.Pro456Thr) c.230-1340C>A (n.230-1340C>A) c.*1454C>A (n.*1454C>A) c.931C>A (p.Pro311Thr) c.520C>A (p.Pro174Thr) c.460C>A (p.Pro154Thr) c.1144C>A (p.Pro382Thr) c.1114C>A (p.Pro372Thr) c.988C>A (p.Pro330Thr) c.*446C>A (n.*446C>A) | |
16 | g.27362763C= | CA2215169737 | IL4R | c.1411C= (p.Pro471=) c.1366C= (p.Pro456=) c.230-1340C= (n.230-1340C=) c.*1454C= (n.*1454C=) c.931C= (p.Pro311=) c.520C= (p.Pro174=) c.460C= (p.Pro154=) c.1144C= (p.Pro382=) c.1114C= (p.Pro372=) c.988C= (p.Pro330=) c.*446C= (n.*446C=) | |
16 | g.27362763C>G | CA395298842 | IL4R | c.1411C>G (p.Pro471Ala) c.1366C>G (p.Pro456Ala) c.230-1340C>G (n.230-1340C>G) c.*1454C>G (n.*1454C>G) c.931C>G (p.Pro311Ala) c.520C>G (p.Pro174Ala) c.460C>G (p.Pro154Ala) c.1144C>G (p.Pro382Ala) c.1114C>G (p.Pro372Ala) c.988C>G (p.Pro330Ala) c.*446C>G (n.*446C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362763C>T | CA395298841 | IL4R | c.1411C>T (p.Pro471Ser) c.1366C>T (p.Pro456Ser) c.230-1340C>T (n.230-1340C>T) c.*1454C>T (n.*1454C>T) c.931C>T (p.Pro311Ser) c.520C>T (p.Pro174Ser) c.460C>T (p.Pro154Ser) c.1144C>T (p.Pro382Ser) c.1114C>T (p.Pro372Ser) c.988C>T (p.Pro330Ser) c.*446C>T (n.*446C>T) | |
16 | g.27362764C>A | CA395298844 | IL4R | c.1412C>A (p.Pro471His) c.1367C>A (p.Pro456His) c.230-1339C>A (n.230-1339C>A) c.*1455C>A (n.*1455C>A) c.932C>A (p.Pro311His) c.521C>A (p.Pro174His) c.461C>A (p.Pro154His) c.1145C>A (p.Pro382His) c.1115C>A (p.Pro372His) c.989C>A (p.Pro330His) c.*447C>A (n.*447C>A) | |
16 | g.27362764C= | CA2215169741 | IL4R | c.1412C= (p.Pro471=) c.1367C= (p.Pro456=) c.230-1339C= (n.230-1339C=) c.*1455C= (n.*1455C=) c.932C= (p.Pro311=) c.521C= (p.Pro174=) c.461C= (p.Pro154=) c.1145C= (p.Pro382=) c.1115C= (p.Pro372=) c.989C= (p.Pro330=) c.*447C= (n.*447C=) | |
16 | g.27362764C>G | CA395298845 | IL4R | c.1412C>G (p.Pro471Arg) c.1367C>G (p.Pro456Arg) c.230-1339C>G (n.230-1339C>G) c.*1455C>G (n.*1455C>G) c.932C>G (p.Pro311Arg) c.521C>G (p.Pro174Arg) c.461C>G (p.Pro154Arg) c.1145C>G (p.Pro382Arg) c.1115C>G (p.Pro372Arg) c.989C>G (p.Pro330Arg) c.*447C>G (n.*447C>G) | |
16 | g.27362764C>T | CA7974555 | IL4R | c.1412C>T (p.Pro471Leu) c.1367C>T (p.Pro456Leu) c.230-1339C>T (n.230-1339C>T) c.*1455C>T (n.*1455C>T) c.932C>T (p.Pro311Leu) c.521C>T (p.Pro174Leu) c.461C>T (p.Pro154Leu) c.1145C>T (p.Pro382Leu) c.1115C>T (p.Pro372Leu) c.989C>T (p.Pro330Leu) c.*447C>T (n.*447C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362765T>A | CA494470620 | IL4R | c.1413T>A (p.Pro471=) c.1368T>A (p.Pro456=) c.230-1338T>A (n.230-1338T>A) c.*1456T>A (n.*1456T>A) c.933T>A (p.Pro311=) c.522T>A (p.Pro174=) c.462T>A (p.Pro154=) c.1146T>A (p.Pro382=) c.1116T>A (p.Pro372=) c.990T>A (p.Pro330=) c.*448T>A (n.*448T>A) | |
16 | g.27362765T>C | CA494470621 | IL4R | c.1413T>C (p.Pro471=) c.1368T>C (p.Pro456=) c.230-1338T>C (n.230-1338T>C) c.*1456T>C (n.*1456T>C) c.933T>C (p.Pro311=) c.522T>C (p.Pro174=) c.462T>C (p.Pro154=) c.1146T>C (p.Pro382=) c.1116T>C (p.Pro372=) c.990T>C (p.Pro330=) c.*448T>C (n.*448T>C) | |
16 | g.27362765T>G | CA494470622 | IL4R | c.1413T>G (p.Pro471=) c.1368T>G (p.Pro456=) c.230-1338T>G (n.230-1338T>G) c.*1456T>G (n.*1456T>G) c.933T>G (p.Pro311=) c.522T>G (p.Pro174=) c.462T>G (p.Pro154=) c.1146T>G (p.Pro382=) c.1116T>G (p.Pro372=) c.990T>G (p.Pro330=) c.*448T>G (n.*448T>G) | |
16 | g.27362766C>A | CA395298846 | IL4R | c.1414C>A (p.Pro472Thr) c.1369C>A (p.Pro457Thr) c.230-1337C>A (n.230-1337C>A) c.*1457C>A (n.*1457C>A) c.934C>A (p.Pro312Thr) c.523C>A (p.Pro175Thr) c.463C>A (p.Pro155Thr) c.1147C>A (p.Pro383Thr) c.1117C>A (p.Pro373Thr) c.991C>A (p.Pro331Thr) c.*449C>A (n.*449C>A) | |
16 | g.27362766C= | CA2215169743 | IL4R | c.1414C= (p.Pro472=) c.1369C= (p.Pro457=) c.230-1337C= (n.230-1337C=) c.*1457C= (n.*1457C=) c.934C= (p.Pro312=) c.523C= (p.Pro175=) c.463C= (p.Pro155=) c.1147C= (p.Pro383=) c.1117C= (p.Pro373=) c.991C= (p.Pro331=) c.*449C= (n.*449C=) | |
16 | g.27362766C>G | CA395298847 | IL4R | c.1414C>G (p.Pro472Ala) c.1369C>G (p.Pro457Ala) c.230-1337C>G (n.230-1337C>G) c.*1457C>G (n.*1457C>G) c.934C>G (p.Pro312Ala) c.523C>G (p.Pro175Ala) c.463C>G (p.Pro155Ala) c.1147C>G (p.Pro383Ala) c.1117C>G (p.Pro373Ala) c.991C>G (p.Pro331Ala) c.*449C>G (n.*449C>G) | |
16 | g.27362766C>T | CA7974556 | IL4R | c.1414C>T (p.Pro472Ser) c.1369C>T (p.Pro457Ser) c.230-1337C>T (n.230-1337C>T) c.*1457C>T (n.*1457C>T) c.934C>T (p.Pro312Ser) c.523C>T (p.Pro175Ser) c.463C>T (p.Pro155Ser) c.1147C>T (p.Pro383Ser) c.1117C>T (p.Pro373Ser) c.991C>T (p.Pro331Ser) c.*449C>T (n.*449C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362767C>A | CA395298848 | IL4R | c.1415C>A (p.Pro472His) c.1370C>A (p.Pro457His) c.230-1336C>A (n.230-1336C>A) c.*1458C>A (n.*1458C>A) c.935C>A (p.Pro312His) c.524C>A (p.Pro175His) c.464C>A (p.Pro155His) c.1148C>A (p.Pro383His) c.1118C>A (p.Pro373His) c.992C>A (p.Pro331His) c.*450C>A (n.*450C>A) | |
16 | g.27362767C= | CA2215169744 | IL4R | c.1415C= (p.Pro472=) c.1370C= (p.Pro457=) c.230-1336C= (n.230-1336C=) c.*1458C= (n.*1458C=) c.935C= (p.Pro312=) c.524C= (p.Pro175=) c.464C= (p.Pro155=) c.1148C= (p.Pro383=) c.1118C= (p.Pro373=) c.992C= (p.Pro331=) c.*450C= (n.*450C=) | |
16 | g.27362767C>G | CA395298849 | IL4R | c.1415C>G (p.Pro472Arg) c.1370C>G (p.Pro457Arg) c.230-1336C>G (n.230-1336C>G) c.*1458C>G (n.*1458C>G) c.935C>G (p.Pro312Arg) c.524C>G (p.Pro175Arg) c.464C>G (p.Pro155Arg) c.1148C>G (p.Pro383Arg) c.1118C>G (p.Pro373Arg) c.992C>G (p.Pro331Arg) c.*450C>G (n.*450C>G) | |
16 | g.27362767C>T | CA7974557 | IL4R | c.1415C>T (p.Pro472Leu) c.1370C>T (p.Pro457Leu) c.230-1336C>T (n.230-1336C>T) c.*1458C>T (n.*1458C>T) c.935C>T (p.Pro312Leu) c.524C>T (p.Pro175Leu) c.464C>T (p.Pro155Leu) c.1148C>T (p.Pro383Leu) c.1118C>T (p.Pro373Leu) c.992C>T (p.Pro331Leu) c.*450C>T (n.*450C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362768T>A | CA494470626 | IL4R | c.1416T>A (p.Pro472=) c.1371T>A (p.Pro457=) c.230-1335T>A (n.230-1335T>A) c.*1459T>A (n.*1459T>A) c.936T>A (p.Pro312=) c.525T>A (p.Pro175=) c.465T>A (p.Pro155=) c.1149T>A (p.Pro383=) c.1119T>A (p.Pro373=) c.993T>A (p.Pro331=) c.*451T>A (n.*451T>A) | |
16 | g.27362768T>C | CA494470628 | IL4R | c.1416T>C (p.Pro472=) c.1371T>C (p.Pro457=) c.230-1335T>C (n.230-1335T>C) c.*1459T>C (n.*1459T>C) c.936T>C (p.Pro312=) c.525T>C (p.Pro175=) c.465T>C (p.Pro155=) c.1149T>C (p.Pro383=) c.1119T>C (p.Pro373=) c.993T>C (p.Pro331=) c.*451T>C (n.*451T>C) | |
16 | g.27362768T>G | CA494470629 | IL4R | c.1416T>G (p.Pro472=) c.1371T>G (p.Pro457=) c.230-1335T>G (n.230-1335T>G) c.*1459T>G (n.*1459T>G) c.936T>G (p.Pro312=) c.525T>G (p.Pro175=) c.465T>G (p.Pro155=) c.1149T>G (p.Pro383=) c.1119T>G (p.Pro373=) c.993T>G (p.Pro331=) c.*451T>G (n.*451T>G) | |
16 | g.27362769G>A | CA395298850 | IL4R | c.1417G>A (p.Ala473Thr) c.1372G>A (p.Ala458Thr) c.230-1334G>A (n.230-1334G>A) c.*1460G>A (n.*1460G>A) c.937G>A (p.Ala313Thr) c.526G>A (p.Ala176Thr) c.466G>A (p.Ala156Thr) c.1150G>A (p.Ala384Thr) c.1120G>A (p.Ala374Thr) c.994G>A (p.Ala332Thr) c.*452G>A (n.*452G>A) | |
16 | g.27362769G>C | CA395298851 | IL4R | c.1417G>C (p.Ala473Pro) c.1372G>C (p.Ala458Pro) c.230-1334G>C (n.230-1334G>C) c.*1460G>C (n.*1460G>C) c.937G>C (p.Ala313Pro) c.526G>C (p.Ala176Pro) c.466G>C (p.Ala156Pro) c.1150G>C (p.Ala384Pro) c.1120G>C (p.Ala374Pro) c.994G>C (p.Ala332Pro) c.*452G>C (n.*452G>C) | |
16 | g.27362769G>T | CA395298852 | IL4R | c.1417G>T (p.Ala473Ser) c.1372G>T (p.Ala458Ser) c.230-1334G>T (n.230-1334G>T) c.*1460G>T (n.*1460G>T) c.937G>T (p.Ala313Ser) c.526G>T (p.Ala176Ser) c.466G>T (p.Ala156Ser) c.1150G>T (p.Ala384Ser) c.1120G>T (p.Ala374Ser) c.994G>T (p.Ala332Ser) c.*452G>T (n.*452G>T) | |
16 | g.27362770C>A | CA395298853 | IL4R | c.1418C>A (p.Ala473Asp) c.1373C>A (p.Ala458Asp) c.230-1333C>A (n.230-1333C>A) c.*1461C>A (n.*1461C>A) c.938C>A (p.Ala313Asp) c.527C>A (p.Ala176Asp) c.467C>A (p.Ala156Asp) c.1151C>A (p.Ala384Asp) c.1121C>A (p.Ala374Asp) c.995C>A (p.Ala332Asp) c.*453C>A (n.*453C>A) | |
16 | g.27362770C= | CA2215169749 | IL4R | c.1418C= (p.Ala473=) c.1373C= (p.Ala458=) c.230-1333C= (n.230-1333C=) c.*1461C= (n.*1461C=) c.938C= (p.Ala313=) c.527C= (p.Ala176=) c.467C= (p.Ala156=) c.1151C= (p.Ala384=) c.1121C= (p.Ala374=) c.995C= (p.Ala332=) c.*453C= (n.*453C=) | |
16 | g.27362770C>G | CA395298854 | IL4R | c.1418C>G (p.Ala473Gly) c.1373C>G (p.Ala458Gly) c.230-1333C>G (n.230-1333C>G) c.*1461C>G (n.*1461C>G) c.938C>G (p.Ala313Gly) c.527C>G (p.Ala176Gly) c.467C>G (p.Ala156Gly) c.1151C>G (p.Ala384Gly) c.1121C>G (p.Ala374Gly) c.995C>G (p.Ala332Gly) c.*453C>G (n.*453C>G) | |
16 | g.27362770C>T | CA7974558 | IL4R | c.1418C>T (p.Ala473Val) c.1373C>T (p.Ala458Val) c.230-1333C>T (n.230-1333C>T) c.*1461C>T (n.*1461C>T) c.938C>T (p.Ala313Val) c.527C>T (p.Ala176Val) c.467C>T (p.Ala156Val) c.1151C>T (p.Ala384Val) c.1121C>T (p.Ala374Val) c.995C>T (p.Ala332Val) c.*453C>T (n.*453C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362771C>A | CA494470631 | IL4R | c.1419C>A (p.Ala473=) c.1374C>A (p.Ala458=) c.230-1332C>A (n.230-1332C>A) c.*1462C>A (n.*1462C>A) c.939C>A (p.Ala313=) c.528C>A (p.Ala176=) c.468C>A (p.Ala156=) c.1152C>A (p.Ala384=) c.1122C>A (p.Ala374=) c.996C>A (p.Ala332=) c.*454C>A (n.*454C>A) | |
16 | g.27362771C= | CA2215169755 | IL4R | c.1419C= (p.Ala473=) c.1374C= (p.Ala458=) c.230-1332C= (n.230-1332C=) c.*1462C= (n.*1462C=) c.939C= (p.Ala313=) c.528C= (p.Ala176=) c.468C= (p.Ala156=) c.1152C= (p.Ala384=) c.1122C= (p.Ala374=) c.996C= (p.Ala332=) c.*454C= (n.*454C=) | |
16 | g.27362771C>G | CA494470634 | IL4R | c.1419C>G (p.Ala473=) c.1374C>G (p.Ala458=) c.230-1332C>G (n.230-1332C>G) c.*1462C>G (n.*1462C>G) c.939C>G (p.Ala313=) c.528C>G (p.Ala176=) c.468C>G (p.Ala156=) c.1152C>G (p.Ala384=) c.1122C>G (p.Ala374=) c.996C>G (p.Ala332=) c.*454C>G (n.*454C>G) | dbSNP |
16 | g.27362771C>T | CA7974559 | IL4R | c.1419C>T (p.Ala473=) c.1374C>T (p.Ala458=) c.230-1332C>T (n.230-1332C>T) c.*1462C>T (n.*1462C>T) c.939C>T (p.Ala313=) c.528C>T (p.Ala176=) c.468C>T (p.Ala156=) c.1152C>T (p.Ala384=) c.1122C>T (p.Ala374=) c.996C>T (p.Ala332=) c.*454C>T (n.*454C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362772A>C | CA395298855 | IL4R | c.1420A>C (p.Ser474Arg) c.1375A>C (p.Ser459Arg) c.230-1331A>C (n.230-1331A>C) c.*1463A>C (n.*1463A>C) c.940A>C (p.Ser314Arg) c.529A>C (p.Ser177Arg) c.469A>C (p.Ser157Arg) c.1153A>C (p.Ser385Arg) c.1123A>C (p.Ser375Arg) c.997A>C (p.Ser333Arg) c.*455A>C (n.*455A>C) | |
16 | g.27362772A>G | CA395298856 | IL4R | c.1420A>G (p.Ser474Gly) c.1375A>G (p.Ser459Gly) c.230-1331A>G (n.230-1331A>G) c.*1463A>G (n.*1463A>G) c.940A>G (p.Ser314Gly) c.529A>G (p.Ser177Gly) c.469A>G (p.Ser157Gly) c.1153A>G (p.Ser385Gly) c.1123A>G (p.Ser375Gly) c.997A>G (p.Ser333Gly) c.*455A>G (n.*455A>G) | |
16 | g.27362772A>T | CA395298857 | IL4R | c.1420A>T (p.Ser474Cys) c.1375A>T (p.Ser459Cys) c.230-1331A>T (n.230-1331A>T) c.*1463A>T (n.*1463A>T) c.940A>T (p.Ser314Cys) c.529A>T (p.Ser177Cys) c.469A>T (p.Ser157Cys) c.1153A>T (p.Ser385Cys) c.1123A>T (p.Ser375Cys) c.997A>T (p.Ser333Cys) c.*455A>T (n.*455A>T) | |
16 | g.27362773G>A | CA279686846 | IL4R | c.1421G>A (p.Ser474Asn) c.1376G>A (p.Ser459Asn) c.230-1330G>A (n.230-1330G>A) c.*1464G>A (n.*1464G>A) c.941G>A (p.Ser314Asn) c.530G>A (p.Ser177Asn) c.470G>A (p.Ser157Asn) c.1154G>A (p.Ser385Asn) c.1124G>A (p.Ser375Asn) c.998G>A (p.Ser333Asn) c.*456G>A (n.*456G>A) | dbSNP gnomAD v4 |
16 | g.27362773G>C | CA395298858 | IL4R | c.1421G>C (p.Ser474Thr) c.1376G>C (p.Ser459Thr) c.230-1330G>C (n.230-1330G>C) c.*1464G>C (n.*1464G>C) c.941G>C (p.Ser314Thr) c.530G>C (p.Ser177Thr) c.470G>C (p.Ser157Thr) c.1154G>C (p.Ser385Thr) c.1124G>C (p.Ser375Thr) c.998G>C (p.Ser333Thr) c.*456G>C (n.*456G>C) | |
16 | g.27362773G= | CA2215169764 | IL4R | c.1421G= (p.Ser474=) c.1376G= (p.Ser459=) c.230-1330G= (n.230-1330G=) c.*1464G= (n.*1464G=) c.941G= (p.Ser314=) c.530G= (p.Ser177=) c.470G= (p.Ser157=) c.1154G= (p.Ser385=) c.1124G= (p.Ser375=) c.998G= (p.Ser333=) c.*456G= (n.*456G=) | |
16 | g.27362773G>T | CA395298859 | IL4R | c.1421G>T (p.Ser474Ile) c.1376G>T (p.Ser459Ile) c.230-1330G>T (n.230-1330G>T) c.*1464G>T (n.*1464G>T) c.941G>T (p.Ser314Ile) c.530G>T (p.Ser177Ile) c.470G>T (p.Ser157Ile) c.1154G>T (p.Ser385Ile) c.1124G>T (p.Ser375Ile) c.998G>T (p.Ser333Ile) c.*456G>T (n.*456G>T) | |
16 | g.27362774C>A | CA395298860 | IL4R | c.1422C>A (p.Ser474Arg) c.1377C>A (p.Ser459Arg) c.230-1329C>A (n.230-1329C>A) c.*1465C>A (n.*1465C>A) c.942C>A (p.Ser314Arg) c.531C>A (p.Ser177Arg) c.471C>A (p.Ser157Arg) c.1155C>A (p.Ser385Arg) c.1125C>A (p.Ser375Arg) c.999C>A (p.Ser333Arg) c.*457C>A (n.*457C>A) | |
16 | g.27362774C= | CA2215169765 | IL4R | c.1422C= (p.Ser474=) c.1377C= (p.Ser459=) c.230-1329C= (n.230-1329C=) c.*1465C= (n.*1465C=) c.942C= (p.Ser314=) c.531C= (p.Ser177=) c.471C= (p.Ser157=) c.1155C= (p.Ser385=) c.1125C= (p.Ser375=) c.999C= (p.Ser333=) c.*457C= (n.*457C=) | |
16 | g.27362774C>G | CA395298861 | IL4R | c.1422C>G (p.Ser474Arg) c.1377C>G (p.Ser459Arg) c.230-1329C>G (n.230-1329C>G) c.*1465C>G (n.*1465C>G) c.942C>G (p.Ser314Arg) c.531C>G (p.Ser177Arg) c.471C>G (p.Ser157Arg) c.1155C>G (p.Ser385Arg) c.1125C>G (p.Ser375Arg) c.999C>G (p.Ser333Arg) c.*457C>G (n.*457C>G) | |
16 | g.27362774C>T | CA494470636 | IL4R | c.1422C>T (p.Ser474=) c.1377C>T (p.Ser459=) c.230-1329C>T (n.230-1329C>T) c.*1465C>T (n.*1465C>T) c.942C>T (p.Ser314=) c.531C>T (p.Ser177=) c.471C>T (p.Ser157=) c.1155C>T (p.Ser385=) c.1125C>T (p.Ser375=) c.999C>T (p.Ser333=) c.*457C>T (n.*457C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362775C>A | CA7974560 | IL4R | c.1423C>A (p.Pro475Thr) c.1378C>A (p.Pro460Thr) c.230-1328C>A (n.230-1328C>A) c.*1466C>A (n.*1466C>A) c.943C>A (p.Pro315Thr) c.532C>A (p.Pro178Thr) c.472C>A (p.Pro158Thr) c.1156C>A (p.Pro386Thr) c.1126C>A (p.Pro376Thr) c.1000C>A (p.Pro334Thr) c.*458C>A (n.*458C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362775C= | CA2215169767 | IL4R | c.1423C= (p.Pro475=) c.1378C= (p.Pro460=) c.230-1328C= (n.230-1328C=) c.*1466C= (n.*1466C=) c.943C= (p.Pro315=) c.532C= (p.Pro178=) c.472C= (p.Pro158=) c.1156C= (p.Pro386=) c.1126C= (p.Pro376=) c.1000C= (p.Pro334=) c.*458C= (n.*458C=) | |
16 | g.27362775C>G | CA395298862 | IL4R | c.1423C>G (p.Pro475Ala) c.1378C>G (p.Pro460Ala) c.230-1328C>G (n.230-1328C>G) c.*1466C>G (n.*1466C>G) c.943C>G (p.Pro315Ala) c.532C>G (p.Pro178Ala) c.472C>G (p.Pro158Ala) c.1156C>G (p.Pro386Ala) c.1126C>G (p.Pro376Ala) c.1000C>G (p.Pro334Ala) c.*458C>G (n.*458C>G) | |
16 | g.27362775C>T | CA395298863 | IL4R | c.1423C>T (p.Pro475Ser) c.1378C>T (p.Pro460Ser) c.230-1328C>T (n.230-1328C>T) c.*1466C>T (n.*1466C>T) c.943C>T (p.Pro315Ser) c.532C>T (p.Pro178Ser) c.472C>T (p.Pro158Ser) c.1156C>T (p.Pro386Ser) c.1126C>T (p.Pro376Ser) c.1000C>T (p.Pro334Ser) c.*458C>T (n.*458C>T) | COSMIC |
16 | g.27362776C>A | CA395298864 | IL4R | c.1424C>A (p.Pro475Gln) c.1379C>A (p.Pro460Gln) c.230-1327C>A (n.230-1327C>A) c.*1467C>A (n.*1467C>A) c.944C>A (p.Pro315Gln) c.533C>A (p.Pro178Gln) c.473C>A (p.Pro158Gln) c.1157C>A (p.Pro386Gln) c.1127C>A (p.Pro376Gln) c.1001C>A (p.Pro334Gln) c.*459C>A (n.*459C>A) | |
16 | g.27362776C= | CA2215169772 | IL4R | c.1424C= (p.Pro475=) c.1379C= (p.Pro460=) c.230-1327C= (n.230-1327C=) c.*1467C= (n.*1467C=) c.944C= (p.Pro315=) c.533C= (p.Pro178=) c.473C= (p.Pro158=) c.1157C= (p.Pro386=) c.1127C= (p.Pro376=) c.1001C= (p.Pro334=) c.*459C= (n.*459C=) | |
16 | g.27362776C>G | CA395298865 | IL4R | c.1424C>G (p.Pro475Arg) c.1379C>G (p.Pro460Arg) c.230-1327C>G (n.230-1327C>G) c.*1467C>G (n.*1467C>G) c.944C>G (p.Pro315Arg) c.533C>G (p.Pro178Arg) c.473C>G (p.Pro158Arg) c.1157C>G (p.Pro386Arg) c.1127C>G (p.Pro376Arg) c.1001C>G (p.Pro334Arg) c.*459C>G (n.*459C>G) | gnomAD v4 COSMIC |
16 | g.27362776C>T | CA7974561 | IL4R | c.1424C>T (p.Pro475Leu) c.1379C>T (p.Pro460Leu) c.230-1327C>T (n.230-1327C>T) c.*1467C>T (n.*1467C>T) c.944C>T (p.Pro315Leu) c.533C>T (p.Pro178Leu) c.473C>T (p.Pro158Leu) c.1157C>T (p.Pro386Leu) c.1127C>T (p.Pro376Leu) c.1001C>T (p.Pro334Leu) c.*459C>T (n.*459C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362777G>A | CA7974562 | IL4R | c.1425G>A (p.Pro475=) c.1380G>A (p.Pro460=) c.230-1326G>A (n.230-1326G>A) c.*1468G>A (n.*1468G>A) c.945G>A (p.Pro315=) c.534G>A (p.Pro178=) c.474G>A (p.Pro158=) c.1158G>A (p.Pro386=) c.1128G>A (p.Pro376=) c.1002G>A (p.Pro334=) c.*460G>A (n.*460G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362777G>C | CA494470641 | IL4R | c.1425G>C (p.Pro475=) c.1380G>C (p.Pro460=) c.230-1326G>C (n.230-1326G>C) c.*1468G>C (n.*1468G>C) c.945G>C (p.Pro315=) c.534G>C (p.Pro178=) c.474G>C (p.Pro158=) c.1158G>C (p.Pro386=) c.1128G>C (p.Pro376=) c.1002G>C (p.Pro334=) c.*460G>C (n.*460G>C) | |
16 | g.27362777G= | CA2215169774 | IL4R | c.1425G= (p.Pro475=) c.1380G= (p.Pro460=) c.230-1326G= (n.230-1326G=) c.*1468G= (n.*1468G=) c.945G= (p.Pro315=) c.534G= (p.Pro178=) c.474G= (p.Pro158=) c.1158G= (p.Pro386=) c.1128G= (p.Pro376=) c.1002G= (p.Pro334=) c.*460G= (n.*460G=) | |
16 | g.27362777G>T | CA494470643 | IL4R | c.1425G>T (p.Pro475=) c.1380G>T (p.Pro460=) c.230-1326G>T (n.230-1326G>T) c.*1468G>T (n.*1468G>T) c.945G>T (p.Pro315=) c.534G>T (p.Pro178=) c.474G>T (p.Pro158=) c.1158G>T (p.Pro386=) c.1128G>T (p.Pro376=) c.1002G>T (p.Pro334=) c.*460G>T (n.*460G>T) | |
16 | g.27362778A>C | CA395298866 | IL4R | c.1426A>C (p.Thr476Pro) c.1381A>C (p.Thr461Pro) c.230-1325A>C (n.230-1325A>C) c.*1469A>C (n.*1469A>C) c.946A>C (p.Thr316Pro) c.535A>C (p.Thr179Pro) c.475A>C (p.Thr159Pro) c.1159A>C (p.Thr387Pro) c.1129A>C (p.Thr377Pro) c.1003A>C (p.Thr335Pro) c.*461A>C (n.*461A>C) | |
16 | g.27362778A>G | CA395298867 | IL4R | c.1426A>G (p.Thr476Ala) c.1381A>G (p.Thr461Ala) c.230-1325A>G (n.230-1325A>G) c.*1469A>G (n.*1469A>G) c.946A>G (p.Thr316Ala) c.535A>G (p.Thr179Ala) c.475A>G (p.Thr159Ala) c.1159A>G (p.Thr387Ala) c.1129A>G (p.Thr377Ala) c.1003A>G (p.Thr335Ala) c.*461A>G (n.*461A>G) | |
16 | g.27362778A>T | CA395298868 | IL4R | c.1426A>T (p.Thr476Ser) c.1381A>T (p.Thr461Ser) c.230-1325A>T (n.230-1325A>T) c.*1469A>T (n.*1469A>T) c.946A>T (p.Thr316Ser) c.535A>T (p.Thr179Ser) c.475A>T (p.Thr159Ser) c.1159A>T (p.Thr387Ser) c.1129A>T (p.Thr377Ser) c.1003A>T (p.Thr335Ser) c.*461A>T (n.*461A>T) | gnomAD v4 |
16 | g.27362779C>A | CA395298869 | IL4R | c.1427C>A (p.Thr476Asn) c.1382C>A (p.Thr461Asn) c.230-1324C>A (n.230-1324C>A) c.*1470C>A (n.*1470C>A) c.947C>A (p.Thr316Asn) c.536C>A (p.Thr179Asn) c.476C>A (p.Thr159Asn) c.1160C>A (p.Thr387Asn) c.1130C>A (p.Thr377Asn) c.1004C>A (p.Thr335Asn) c.*462C>A (n.*462C>A) | gnomAD v4 |
16 | g.27362779C>G | CA395298870 | IL4R | c.1427C>G (p.Thr476Ser) c.1382C>G (p.Thr461Ser) c.230-1324C>G (n.230-1324C>G) c.*1470C>G (n.*1470C>G) c.947C>G (p.Thr316Ser) c.536C>G (p.Thr179Ser) c.476C>G (p.Thr159Ser) c.1160C>G (p.Thr387Ser) c.1130C>G (p.Thr377Ser) c.1004C>G (p.Thr335Ser) c.*462C>G (n.*462C>G) | |
16 | g.27362779C>T | CA395298871 | IL4R | c.1427C>T (p.Thr476Ile) c.1382C>T (p.Thr461Ile) c.230-1324C>T (n.230-1324C>T) c.*1470C>T (n.*1470C>T) c.947C>T (p.Thr316Ile) c.536C>T (p.Thr179Ile) c.476C>T (p.Thr159Ile) c.1160C>T (p.Thr387Ile) c.1130C>T (p.Thr377Ile) c.1004C>T (p.Thr335Ile) c.*462C>T (n.*462C>T) | |
16 | g.27362780C>A | CA494470645 | IL4R | c.1428C>A (p.Thr476=) c.1383C>A (p.Thr461=) c.230-1323C>A (n.230-1323C>A) c.*1471C>A (n.*1471C>A) c.948C>A (p.Thr316=) c.537C>A (p.Thr179=) c.477C>A (p.Thr159=) c.1161C>A (p.Thr387=) c.1131C>A (p.Thr377=) c.1005C>A (p.Thr335=) c.*463C>A (n.*463C>A) | |
16 | g.27362780C= | CA2215169775 | IL4R | c.1428C= (p.Thr476=) c.1383C= (p.Thr461=) c.230-1323C= (n.230-1323C=) c.*1471C= (n.*1471C=) c.948C= (p.Thr316=) c.537C= (p.Thr179=) c.477C= (p.Thr159=) c.1161C= (p.Thr387=) c.1131C= (p.Thr377=) c.1005C= (p.Thr335=) c.*463C= (n.*463C=) | |
16 | g.27362780C>G | CA494470646 | IL4R | c.1428C>G (p.Thr476=) c.1383C>G (p.Thr461=) c.230-1323C>G (n.230-1323C>G) c.*1471C>G (n.*1471C>G) c.948C>G (p.Thr316=) c.537C>G (p.Thr179=) c.477C>G (p.Thr159=) c.1161C>G (p.Thr387=) c.1131C>G (p.Thr377=) c.1005C>G (p.Thr335=) c.*463C>G (n.*463C>G) | |
16 | g.27362780C>T | CA494470647 | IL4R | c.1428C>T (p.Thr476=) c.1383C>T (p.Thr461=) c.230-1323C>T (n.230-1323C>T) c.*1471C>T (n.*1471C>T) c.948C>T (p.Thr316=) c.537C>T (p.Thr179=) c.477C>T (p.Thr159=) c.1161C>T (p.Thr387=) c.1131C>T (p.Thr377=) c.1005C>T (p.Thr335=) c.*463C>T (n.*463C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362781C>A | CA395298872 | IL4R | c.1429C>A (p.Gln477Lys) c.1384C>A (p.Gln462Lys) c.230-1322C>A (n.230-1322C>A) c.*1472C>A (n.*1472C>A) c.949C>A (p.Gln317Lys) c.538C>A (p.Gln180Lys) c.478C>A (p.Gln160Lys) c.1162C>A (p.Gln388Lys) c.1132C>A (p.Gln378Lys) c.1006C>A (p.Gln336Lys) c.*464C>A (n.*464C>A) | |
16 | g.27362781C>G | CA395298873 | IL4R | c.1429C>G (p.Gln477Glu) c.1384C>G (p.Gln462Glu) c.230-1322C>G (n.230-1322C>G) c.*1472C>G (n.*1472C>G) c.949C>G (p.Gln317Glu) c.538C>G (p.Gln180Glu) c.478C>G (p.Gln160Glu) c.1162C>G (p.Gln388Glu) c.1132C>G (p.Gln378Glu) c.1006C>G (p.Gln336Glu) c.*464C>G (n.*464C>G) | |
16 | g.27362781C>T | CA395298874 | IL4R | c.1429C>T (p.Gln477Ter) c.1384C>T (p.Gln462Ter) c.230-1322C>T (n.230-1322C>T) c.*1472C>T (n.*1472C>T) c.949C>T (p.Gln317Ter) c.538C>T (p.Gln180Ter) c.478C>T (p.Gln160Ter) c.1162C>T (p.Gln388Ter) c.1132C>T (p.Gln378Ter) c.1006C>T (p.Gln336Ter) c.*464C>T (n.*464C>T) | |
16 | g.27362782A= | CA2215169776 | IL4R | c.1430A= (p.Gln477=) c.1385A= (p.Gln462=) c.230-1321A= (n.230-1321A=) c.*1473A= (n.*1473A=) c.950A= (p.Gln317=) c.539A= (p.Gln180=) c.479A= (p.Gln160=) c.1163A= (p.Gln388=) c.1133A= (p.Gln378=) c.1007A= (p.Gln336=) c.*465A= (n.*465A=) | |
16 | g.27362782A>C | CA395298875 | IL4R | c.1430A>C (p.Gln477Pro) c.1385A>C (p.Gln462Pro) c.230-1321A>C (n.230-1321A>C) c.*1473A>C (n.*1473A>C) c.950A>C (p.Gln317Pro) c.539A>C (p.Gln180Pro) c.479A>C (p.Gln160Pro) c.1163A>C (p.Gln388Pro) c.1133A>C (p.Gln378Pro) c.1007A>C (p.Gln336Pro) c.*465A>C (n.*465A>C) | |
16 | g.27362782A>G | CA395298876 | IL4R | c.1430A>G (p.Gln477Arg) c.1385A>G (p.Gln462Arg) c.230-1321A>G (n.230-1321A>G) c.*1473A>G (n.*1473A>G) c.950A>G (p.Gln317Arg) c.539A>G (p.Gln180Arg) c.479A>G (p.Gln160Arg) c.1163A>G (p.Gln388Arg) c.1133A>G (p.Gln378Arg) c.1007A>G (p.Gln336Arg) c.*465A>G (n.*465A>G) | dbSNP |
16 | g.27362782A>T | CA395298877 | IL4R | c.1430A>T (p.Gln477Leu) c.1385A>T (p.Gln462Leu) c.230-1321A>T (n.230-1321A>T) c.*1473A>T (n.*1473A>T) c.950A>T (p.Gln317Leu) c.539A>T (p.Gln180Leu) c.479A>T (p.Gln160Leu) c.1163A>T (p.Gln388Leu) c.1133A>T (p.Gln378Leu) c.1007A>T (p.Gln336Leu) c.*465A>T (n.*465A>T) | |
16 | g.27362783G>A | CA494470657 | IL4R | c.1431G>A (p.Gln477=) c.1386G>A (p.Gln462=) c.230-1320G>A (n.230-1320G>A) c.*1474G>A (n.*1474G>A) c.951G>A (p.Gln317=) c.540G>A (p.Gln180=) c.480G>A (p.Gln160=) c.1164G>A (p.Gln388=) c.1134G>A (p.Gln378=) c.1008G>A (p.Gln336=) c.*466G>A (n.*466G>A) | |
16 | g.27362783G>C | CA395298878 | IL4R | c.1431G>C (p.Gln477His) c.1386G>C (p.Gln462His) c.230-1320G>C (n.230-1320G>C) c.*1474G>C (n.*1474G>C) c.951G>C (p.Gln317His) c.540G>C (p.Gln180His) c.480G>C (p.Gln160His) c.1164G>C (p.Gln388His) c.1134G>C (p.Gln378His) c.1008G>C (p.Gln336His) c.*466G>C (n.*466G>C) | |
16 | g.27362783G>T | CA395298879 | IL4R | c.1431G>T (p.Gln477His) c.1386G>T (p.Gln462His) c.230-1320G>T (n.230-1320G>T) c.*1474G>T (n.*1474G>T) c.951G>T (p.Gln317His) c.540G>T (p.Gln180His) c.480G>T (p.Gln160His) c.1164G>T (p.Gln388His) c.1134G>T (p.Gln378His) c.1008G>T (p.Gln336His) c.*466G>T (n.*466G>T) | |
16 | g.27362784A>C | CA395298880 | IL4R | c.1432A>C (p.Ser478Arg) c.1387A>C (p.Ser463Arg) c.230-1319A>C (n.230-1319A>C) c.*1475A>C (n.*1475A>C) c.952A>C (p.Ser318Arg) c.541A>C (p.Ser181Arg) c.481A>C (p.Ser161Arg) c.1165A>C (p.Ser389Arg) c.1135A>C (p.Ser379Arg) c.1009A>C (p.Ser337Arg) c.*467A>C (n.*467A>C) | |
16 | g.27362784A>G | CA395298882 | IL4R | c.1432A>G (p.Ser478Gly) c.1387A>G (p.Ser463Gly) c.230-1319A>G (n.230-1319A>G) c.*1475A>G (n.*1475A>G) c.952A>G (p.Ser318Gly) c.541A>G (p.Ser181Gly) c.481A>G (p.Ser161Gly) c.1165A>G (p.Ser389Gly) c.1135A>G (p.Ser379Gly) c.1009A>G (p.Ser337Gly) c.*467A>G (n.*467A>G) | gnomAD v4 |
16 | g.27362784A>T | CA395298881 | IL4R | c.1432A>T (p.Ser478Cys) c.1387A>T (p.Ser463Cys) c.230-1319A>T (n.230-1319A>T) c.*1475A>T (n.*1475A>T) c.952A>T (p.Ser318Cys) c.541A>T (p.Ser181Cys) c.481A>T (p.Ser161Cys) c.1165A>T (p.Ser389Cys) c.1135A>T (p.Ser379Cys) c.1009A>T (p.Ser337Cys) c.*467A>T (n.*467A>T) | |
16 | g.27362785G>A | CA395298883 | IL4R | c.1433G>A (p.Ser478Asn) c.1388G>A (p.Ser463Asn) c.230-1318G>A (n.230-1318G>A) c.*1476G>A (n.*1476G>A) c.953G>A (p.Ser318Asn) c.542G>A (p.Ser181Asn) c.482G>A (p.Ser161Asn) c.1166G>A (p.Ser389Asn) c.1136G>A (p.Ser379Asn) c.1010G>A (p.Ser337Asn) c.*468G>A (n.*468G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362785G>C | CA395298884 | IL4R | c.1433G>C (p.Ser478Thr) c.1388G>C (p.Ser463Thr) c.230-1318G>C (n.230-1318G>C) c.*1476G>C (n.*1476G>C) c.953G>C (p.Ser318Thr) c.542G>C (p.Ser181Thr) c.482G>C (p.Ser161Thr) c.1166G>C (p.Ser389Thr) c.1136G>C (p.Ser379Thr) c.1010G>C (p.Ser337Thr) c.*468G>C (n.*468G>C) | gnomAD v4 |
16 | g.27362785G= | CA2215169777 | IL4R | c.1433G= (p.Ser478=) c.1388G= (p.Ser463=) c.230-1318G= (n.230-1318G=) c.*1476G= (n.*1476G=) c.953G= (p.Ser318=) c.542G= (p.Ser181=) c.482G= (p.Ser161=) c.1166G= (p.Ser389=) c.1136G= (p.Ser379=) c.1010G= (p.Ser337=) c.*468G= (n.*468G=) | |
16 | g.27362785G>T | CA395298885 | IL4R | c.1433G>T (p.Ser478Ile) c.1388G>T (p.Ser463Ile) c.230-1318G>T (n.230-1318G>T) c.*1476G>T (n.*1476G>T) c.953G>T (p.Ser318Ile) c.542G>T (p.Ser181Ile) c.482G>T (p.Ser161Ile) c.1166G>T (p.Ser389Ile) c.1136G>T (p.Ser379Ile) c.1010G>T (p.Ser337Ile) c.*468G>T (n.*468G>T) | |
16 | g.27362786T>A | CA395298886 | IL4R | c.1434T>A (p.Ser478Arg) c.1389T>A (p.Ser463Arg) c.230-1317T>A (n.230-1317T>A) c.*1477T>A (n.*1477T>A) c.954T>A (p.Ser318Arg) c.543T>A (p.Ser181Arg) c.483T>A (p.Ser161Arg) c.1167T>A (p.Ser389Arg) c.1137T>A (p.Ser379Arg) c.1011T>A (p.Ser337Arg) c.*469T>A (n.*469T>A) | |
16 | g.27362786T>C | CA494470667 | IL4R | c.1434T>C (p.Ser478=) c.1389T>C (p.Ser463=) c.230-1317T>C (n.230-1317T>C) c.*1477T>C (n.*1477T>C) c.954T>C (p.Ser318=) c.543T>C (p.Ser181=) c.483T>C (p.Ser161=) c.1167T>C (p.Ser389=) c.1137T>C (p.Ser379=) c.1011T>C (p.Ser337=) c.*469T>C (n.*469T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362786T>G | CA395298887 | IL4R | c.1434T>G (p.Ser478Arg) c.1389T>G (p.Ser463Arg) c.230-1317T>G (n.230-1317T>G) c.*1477T>G (n.*1477T>G) c.954T>G (p.Ser318Arg) c.543T>G (p.Ser181Arg) c.483T>G (p.Ser161Arg) c.1167T>G (p.Ser389Arg) c.1137T>G (p.Ser379Arg) c.1011T>G (p.Ser337Arg) c.*469T>G (n.*469T>G) | |
16 | g.27362786T= | CA2215169778 | IL4R | c.1434T= (p.Ser478=) c.1389T= (p.Ser463=) c.230-1317T= (n.230-1317T=) c.*1477T= (n.*1477T=) c.954T= (p.Ser318=) c.543T= (p.Ser181=) c.483T= (p.Ser161=) c.1167T= (p.Ser389=) c.1137T= (p.Ser379=) c.1011T= (p.Ser337=) c.*469T= (n.*469T=) | |
16 | g.27362787C>A | CA395298888 | IL4R | c.1435C>A (p.Pro479Thr) c.1390C>A (p.Pro464Thr) c.230-1316C>A (n.230-1316C>A) c.*1478C>A (n.*1478C>A) c.955C>A (p.Pro319Thr) c.544C>A (p.Pro182Thr) c.484C>A (p.Pro162Thr) c.1168C>A (p.Pro390Thr) c.1138C>A (p.Pro380Thr) c.1012C>A (p.Pro338Thr) c.*470C>A (n.*470C>A) | gnomAD v4 |
16 | g.27362787C= | CA2215169779 | IL4R | c.1435C= (p.Pro479=) c.1390C= (p.Pro464=) c.230-1316C= (n.230-1316C=) c.*1478C= (n.*1478C=) c.955C= (p.Pro319=) c.544C= (p.Pro182=) c.484C= (p.Pro162=) c.1168C= (p.Pro390=) c.1138C= (p.Pro380=) c.1012C= (p.Pro338=) c.*470C= (n.*470C=) | |
16 | g.27362787C>G | CA7974563 | IL4R | c.1435C>G (p.Pro479Ala) c.1390C>G (p.Pro464Ala) c.230-1316C>G (n.230-1316C>G) c.*1478C>G (n.*1478C>G) c.955C>G (p.Pro319Ala) c.544C>G (p.Pro182Ala) c.484C>G (p.Pro162Ala) c.1168C>G (p.Pro390Ala) c.1138C>G (p.Pro380Ala) c.1012C>G (p.Pro338Ala) c.*470C>G (n.*470C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362787C>T | CA395298889 | IL4R | c.1435C>T (p.Pro479Ser) c.1390C>T (p.Pro464Ser) c.230-1316C>T (n.230-1316C>T) c.*1478C>T (n.*1478C>T) c.955C>T (p.Pro319Ser) c.544C>T (p.Pro182Ser) c.484C>T (p.Pro162Ser) c.1168C>T (p.Pro390Ser) c.1138C>T (p.Pro380Ser) c.1012C>T (p.Pro338Ser) c.*470C>T (n.*470C>T) | |
16 | g.27362788C>A | CA395298890 | IL4R | c.1436C>A (p.Pro479Gln) c.1391C>A (p.Pro464Gln) c.230-1315C>A (n.230-1315C>A) c.*1479C>A (n.*1479C>A) c.956C>A (p.Pro319Gln) c.545C>A (p.Pro182Gln) c.485C>A (p.Pro162Gln) c.1169C>A (p.Pro390Gln) c.1139C>A (p.Pro380Gln) c.1013C>A (p.Pro338Gln) c.*471C>A (n.*471C>A) | |
16 | g.27362788C= | CA2215169780 | IL4R | c.1436C= (p.Pro479=) c.1391C= (p.Pro464=) c.230-1315C= (n.230-1315C=) c.*1479C= (n.*1479C=) c.956C= (p.Pro319=) c.545C= (p.Pro182=) c.485C= (p.Pro162=) c.1169C= (p.Pro390=) c.1139C= (p.Pro380=) c.1013C= (p.Pro338=) c.*471C= (n.*471C=) | |
16 | g.27362788C>G | CA395298891 | IL4R | c.1436C>G (p.Pro479Arg) c.1391C>G (p.Pro464Arg) c.230-1315C>G (n.230-1315C>G) c.*1479C>G (n.*1479C>G) c.956C>G (p.Pro319Arg) c.545C>G (p.Pro182Arg) c.485C>G (p.Pro162Arg) c.1169C>G (p.Pro390Arg) c.1139C>G (p.Pro380Arg) c.1013C>G (p.Pro338Arg) c.*471C>G (n.*471C>G) | |
16 | g.27362788C>T | CA395298892 | IL4R | c.1436C>T (p.Pro479Leu) c.1391C>T (p.Pro464Leu) c.230-1315C>T (n.230-1315C>T) c.*1479C>T (n.*1479C>T) c.956C>T (p.Pro319Leu) c.545C>T (p.Pro182Leu) c.485C>T (p.Pro162Leu) c.1169C>T (p.Pro390Leu) c.1139C>T (p.Pro380Leu) c.1013C>T (p.Pro338Leu) c.*471C>T (n.*471C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.27362789A= | CA2215169782 | IL4R | c.1437A= (p.Pro479=) c.1392A= (p.Pro464=) c.230-1314A= (n.230-1314A=) c.*1480A= (n.*1480A=) c.957A= (p.Pro319=) c.546A= (p.Pro182=) c.486A= (p.Pro162=) c.1170A= (p.Pro390=) c.1140A= (p.Pro380=) c.1014A= (p.Pro338=) c.*472A= (n.*472A=) | |
16 | g.27362789A>C | CA494470675 | IL4R | c.1437A>C (p.Pro479=) c.1392A>C (p.Pro464=) c.230-1314A>C (n.230-1314A>C) c.*1480A>C (n.*1480A>C) c.957A>C (p.Pro319=) c.546A>C (p.Pro182=) c.486A>C (p.Pro162=) c.1170A>C (p.Pro390=) c.1140A>C (p.Pro380=) c.1014A>C (p.Pro338=) c.*472A>C (n.*472A>C) | |
16 | g.27362789A>G | CA7974564 | IL4R | c.1437A>G (p.Pro479=) c.1392A>G (p.Pro464=) c.230-1314A>G (n.230-1314A>G) c.*1480A>G (n.*1480A>G) c.957A>G (p.Pro319=) c.546A>G (p.Pro182=) c.486A>G (p.Pro162=) c.1170A>G (p.Pro390=) c.1140A>G (p.Pro380=) c.1014A>G (p.Pro338=) c.*472A>G (n.*472A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362789A>T | CA494470678 | IL4R | c.1437A>T (p.Pro479=) c.1392A>T (p.Pro464=) c.230-1314A>T (n.230-1314A>T) c.*1480A>T (n.*1480A>T) c.957A>T (p.Pro319=) c.546A>T (p.Pro182=) c.486A>T (p.Pro162=) c.1170A>T (p.Pro390=) c.1140A>T (p.Pro380=) c.1014A>T (p.Pro338=) c.*472A>T (n.*472A>T) | |
16 | g.27362790G>A | CA395298895 | IL4R | c.1438G>A (p.Asp480Asn) c.1393G>A (p.Asp465Asn) c.230-1313G>A (n.230-1313G>A) c.*1481G>A (n.*1481G>A) c.958G>A (p.Asp320Asn) c.547G>A (p.Asp183Asn) c.487G>A (p.Asp163Asn) c.1171G>A (p.Asp391Asn) c.1141G>A (p.Asp381Asn) c.1015G>A (p.Asp339Asn) c.*473G>A (n.*473G>A) | |
16 | g.27362790G>C | CA395298894 | IL4R | c.1438G>C (p.Asp480His) c.1393G>C (p.Asp465His) c.230-1313G>C (n.230-1313G>C) c.*1481G>C (n.*1481G>C) c.958G>C (p.Asp320His) c.547G>C (p.Asp183His) c.487G>C (p.Asp163His) c.1171G>C (p.Asp391His) c.1141G>C (p.Asp381His) c.1015G>C (p.Asp339His) c.*473G>C (n.*473G>C) | |
16 | g.27362790G>T | CA395298893 | IL4R | c.1438G>T (p.Asp480Tyr) c.1393G>T (p.Asp465Tyr) c.230-1313G>T (n.230-1313G>T) c.*1481G>T (n.*1481G>T) c.958G>T (p.Asp320Tyr) c.547G>T (p.Asp183Tyr) c.487G>T (p.Asp163Tyr) c.1171G>T (p.Asp391Tyr) c.1141G>T (p.Asp381Tyr) c.1015G>T (p.Asp339Tyr) c.*473G>T (n.*473G>T) | COSMIC |
16 | g.27362791A= | CA2215169786 | IL4R | c.1439A= (p.Asp480=) c.1394A= (p.Asp465=) c.230-1312A= (n.230-1312A=) c.*1482A= (n.*1482A=) c.959A= (p.Asp320=) c.548A= (p.Asp183=) c.488A= (p.Asp163=) c.1172A= (p.Asp391=) c.1142A= (p.Asp381=) c.1016A= (p.Asp339=) c.*474A= (n.*474A=) | |
16 | g.27362791A>C | CA395298896 | IL4R | c.1439A>C (p.Asp480Ala) c.1394A>C (p.Asp465Ala) c.230-1312A>C (n.230-1312A>C) c.*1482A>C (n.*1482A>C) c.959A>C (p.Asp320Ala) c.548A>C (p.Asp183Ala) c.488A>C (p.Asp163Ala) c.1172A>C (p.Asp391Ala) c.1142A>C (p.Asp381Ala) c.1016A>C (p.Asp339Ala) c.*474A>C (n.*474A>C) | |
16 | g.27362791A>G | CA279686881 | IL4R | c.1439A>G (p.Asp480Gly) c.1394A>G (p.Asp465Gly) c.230-1312A>G (n.230-1312A>G) c.*1482A>G (n.*1482A>G) c.959A>G (p.Asp320Gly) c.548A>G (p.Asp183Gly) c.488A>G (p.Asp163Gly) c.1172A>G (p.Asp391Gly) c.1142A>G (p.Asp381Gly) c.1016A>G (p.Asp339Gly) c.*474A>G (n.*474A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362791A>T | CA395298897 | IL4R | c.1439A>T (p.Asp480Val) c.1394A>T (p.Asp465Val) c.230-1312A>T (n.230-1312A>T) c.*1482A>T (n.*1482A>T) c.959A>T (p.Asp320Val) c.548A>T (p.Asp183Val) c.488A>T (p.Asp163Val) c.1172A>T (p.Asp391Val) c.1142A>T (p.Asp381Val) c.1016A>T (p.Asp339Val) c.*474A>T (n.*474A>T) | |
16 | g.27362792C>A | CA395298898 | IL4R | c.1440C>A (p.Asp480Glu) c.1395C>A (p.Asp465Glu) c.230-1311C>A (n.230-1311C>A) c.*1483C>A (n.*1483C>A) c.960C>A (p.Asp320Glu) c.549C>A (p.Asp183Glu) c.489C>A (p.Asp163Glu) c.1173C>A (p.Asp391Glu) c.1143C>A (p.Asp381Glu) c.1017C>A (p.Asp339Glu) c.*475C>A (n.*475C>A) | |
16 | g.27362792C>G | CA395298899 | IL4R | c.1440C>G (p.Asp480Glu) c.1395C>G (p.Asp465Glu) c.230-1311C>G (n.230-1311C>G) c.*1483C>G (n.*1483C>G) c.960C>G (p.Asp320Glu) c.549C>G (p.Asp183Glu) c.489C>G (p.Asp163Glu) c.1173C>G (p.Asp391Glu) c.1143C>G (p.Asp381Glu) c.1017C>G (p.Asp339Glu) c.*475C>G (n.*475C>G) | |
16 | g.27362792C>T | CA494470682 | IL4R | c.1440C>T (p.Asp480=) c.1395C>T (p.Asp465=) c.230-1311C>T (n.230-1311C>T) c.*1483C>T (n.*1483C>T) c.960C>T (p.Asp320=) c.549C>T (p.Asp183=) c.489C>T (p.Asp163=) c.1173C>T (p.Asp391=) c.1143C>T (p.Asp381=) c.1017C>T (p.Asp339=) c.*475C>T (n.*475C>T) | |
16 | g.27362793A>C | CA395298900 | IL4R | c.1441A>C (p.Asn481His) c.1396A>C (p.Asn466His) c.230-1310A>C (n.230-1310A>C) c.*1484A>C (n.*1484A>C) c.961A>C (p.Asn321His) c.550A>C (p.Asn184His) c.490A>C (p.Asn164His) c.1174A>C (p.Asn392His) c.1144A>C (p.Asn382His) c.1018A>C (p.Asn340His) c.*476A>C (n.*476A>C) | |
16 | g.27362793A>G | CA395298901 | IL4R | c.1441A>G (p.Asn481Asp) c.1396A>G (p.Asn466Asp) c.230-1310A>G (n.230-1310A>G) c.*1484A>G (n.*1484A>G) c.961A>G (p.Asn321Asp) c.550A>G (p.Asn184Asp) c.490A>G (p.Asn164Asp) c.1174A>G (p.Asn392Asp) c.1144A>G (p.Asn382Asp) c.1018A>G (p.Asn340Asp) c.*476A>G (n.*476A>G) | |
16 | g.27362793A>T | CA395298902 | IL4R | c.1441A>T (p.Asn481Tyr) c.1396A>T (p.Asn466Tyr) c.230-1310A>T (n.230-1310A>T) c.*1484A>T (n.*1484A>T) c.961A>T (p.Asn321Tyr) c.550A>T (p.Asn184Tyr) c.490A>T (p.Asn164Tyr) c.1174A>T (p.Asn392Tyr) c.1144A>T (p.Asn382Tyr) c.1018A>T (p.Asn340Tyr) c.*476A>T (n.*476A>T) | |
16 | g.27362794A>C | CA395298903 | IL4R | c.1442A>C (p.Asn481Thr) c.1397A>C (p.Asn466Thr) c.230-1309A>C (n.230-1309A>C) c.*1485A>C (n.*1485A>C) c.962A>C (p.Asn321Thr) c.551A>C (p.Asn184Thr) c.491A>C (p.Asn164Thr) c.1175A>C (p.Asn392Thr) c.1145A>C (p.Asn382Thr) c.1019A>C (p.Asn340Thr) c.*477A>C (n.*477A>C) | |
16 | g.27362794A>G | CA395298904 | IL4R | c.1442A>G (p.Asn481Ser) c.1397A>G (p.Asn466Ser) c.230-1309A>G (n.230-1309A>G) c.*1485A>G (n.*1485A>G) c.962A>G (p.Asn321Ser) c.551A>G (p.Asn184Ser) c.491A>G (p.Asn164Ser) c.1175A>G (p.Asn392Ser) c.1145A>G (p.Asn382Ser) c.1019A>G (p.Asn340Ser) c.*477A>G (n.*477A>G) | |
16 | g.27362794A>T | CA395298905 | IL4R | c.1442A>T (p.Asn481Ile) c.1397A>T (p.Asn466Ile) c.230-1309A>T (n.230-1309A>T) c.*1485A>T (n.*1485A>T) c.962A>T (p.Asn321Ile) c.551A>T (p.Asn184Ile) c.491A>T (p.Asn164Ile) c.1175A>T (p.Asn392Ile) c.1145A>T (p.Asn382Ile) c.1019A>T (p.Asn340Ile) c.*477A>T (n.*477A>T) | |
16 | g.27362795C>A | CA395298906 | IL4R | c.1443C>A (p.Asn481Lys) c.1398C>A (p.Asn466Lys) c.230-1308C>A (n.230-1308C>A) c.*1486C>A (n.*1486C>A) c.963C>A (p.Asn321Lys) c.552C>A (p.Asn184Lys) c.492C>A (p.Asn164Lys) c.1176C>A (p.Asn392Lys) c.1146C>A (p.Asn382Lys) c.1020C>A (p.Asn340Lys) c.*478C>A (n.*478C>A) | |
16 | g.27362795C= | CA2215169789 | IL4R | c.1443C= (p.Asn481=) c.1398C= (p.Asn466=) c.230-1308C= (n.230-1308C=) c.*1486C= (n.*1486C=) c.963C= (p.Asn321=) c.552C= (p.Asn184=) c.492C= (p.Asn164=) c.1176C= (p.Asn392=) c.1146C= (p.Asn382=) c.1020C= (p.Asn340=) c.*478C= (n.*478C=) | |
16 | g.27362795C>G | CA395298907 | IL4R | c.1443C>G (p.Asn481Lys) c.1398C>G (p.Asn466Lys) c.230-1308C>G (n.230-1308C>G) c.*1486C>G (n.*1486C>G) c.963C>G (p.Asn321Lys) c.552C>G (p.Asn184Lys) c.492C>G (p.Asn164Lys) c.1176C>G (p.Asn392Lys) c.1146C>G (p.Asn382Lys) c.1020C>G (p.Asn340Lys) c.*478C>G (n.*478C>G) | |
16 | g.27362795C>T | CA494470687 | IL4R | c.1443C>T (p.Asn481=) c.1398C>T (p.Asn466=) c.230-1308C>T (n.230-1308C>T) c.*1486C>T (n.*1486C>T) c.963C>T (p.Asn321=) c.552C>T (p.Asn184=) c.492C>T (p.Asn164=) c.1176C>T (p.Asn392=) c.1146C>T (p.Asn382=) c.1020C>T (p.Asn340=) c.*478C>T (n.*478C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362796C>A | CA395298908 | IL4R | c.1444C>A (p.Leu482Met) c.1399C>A (p.Leu467Met) c.230-1307C>A (n.230-1307C>A) c.*1487C>A (n.*1487C>A) c.964C>A (p.Leu322Met) c.553C>A (p.Leu185Met) c.493C>A (p.Leu165Met) c.1177C>A (p.Leu393Met) c.1147C>A (p.Leu383Met) c.1021C>A (p.Leu341Met) c.*479C>A (n.*479C>A) | |
16 | g.27362796C= | CA2215169792 | IL4R | c.1444C= (p.Leu482=) c.1399C= (p.Leu467=) c.230-1307C= (n.230-1307C=) c.*1487C= (n.*1487C=) c.964C= (p.Leu322=) c.553C= (p.Leu185=) c.493C= (p.Leu165=) c.1177C= (p.Leu393=) c.1147C= (p.Leu383=) c.1021C= (p.Leu341=) c.*479C= (n.*479C=) | |
16 | g.27362796C>G | CA395298909 | IL4R | c.1444C>G (p.Leu482Val) c.1399C>G (p.Leu467Val) c.230-1307C>G (n.230-1307C>G) c.*1487C>G (n.*1487C>G) c.964C>G (p.Leu322Val) c.553C>G (p.Leu185Val) c.493C>G (p.Leu165Val) c.1177C>G (p.Leu393Val) c.1147C>G (p.Leu383Val) c.1021C>G (p.Leu341Val) c.*479C>G (n.*479C>G) | gnomAD v4 |
16 | g.27362796C>T | CA494470689 | IL4R | c.1444C>T (p.Leu482=) c.1399C>T (p.Leu467=) c.230-1307C>T (n.230-1307C>T) c.*1487C>T (n.*1487C>T) c.964C>T (p.Leu322=) c.553C>T (p.Leu185=) c.493C>T (p.Leu165=) c.1177C>T (p.Leu393=) c.1147C>T (p.Leu383=) c.1021C>T (p.Leu341=) c.*479C>T (n.*479C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.27362797T>A | CA395298910 | IL4R | c.1445T>A (p.Leu482Gln) c.1400T>A (p.Leu467Gln) c.230-1306T>A (n.230-1306T>A) c.*1488T>A (n.*1488T>A) c.965T>A (p.Leu322Gln) c.554T>A (p.Leu185Gln) c.494T>A (p.Leu165Gln) c.1178T>A (p.Leu393Gln) c.1148T>A (p.Leu383Gln) c.1022T>A (p.Leu341Gln) c.*480T>A (n.*480T>A) | dbSNP gnomAD v4 |
16 | g.27362797T>C | CA395298912 | IL4R | c.1445T>C (p.Leu482Pro) c.1400T>C (p.Leu467Pro) c.230-1306T>C (n.230-1306T>C) c.*1488T>C (n.*1488T>C) c.965T>C (p.Leu322Pro) c.554T>C (p.Leu185Pro) c.494T>C (p.Leu165Pro) c.1178T>C (p.Leu393Pro) c.1148T>C (p.Leu383Pro) c.1022T>C (p.Leu341Pro) c.*480T>C (n.*480T>C) | |
16 | g.27362797T>G | CA395298911 | IL4R | c.1445T>G (p.Leu482Arg) c.1400T>G (p.Leu467Arg) c.230-1306T>G (n.230-1306T>G) c.*1488T>G (n.*1488T>G) c.965T>G (p.Leu322Arg) c.554T>G (p.Leu185Arg) c.494T>G (p.Leu165Arg) c.1178T>G (p.Leu393Arg) c.1148T>G (p.Leu383Arg) c.1022T>G (p.Leu341Arg) c.*480T>G (n.*480T>G) | |
16 | g.27362797T= | CA2215169795 | IL4R | c.1445T= (p.Leu482=) c.1400T= (p.Leu467=) c.230-1306T= (n.230-1306T=) c.*1488T= (n.*1488T=) c.965T= (p.Leu322=) c.554T= (p.Leu185=) c.494T= (p.Leu165=) c.1178T= (p.Leu393=) c.1148T= (p.Leu383=) c.1022T= (p.Leu341=) c.*480T= (n.*480T=) | |
16 | g.27362798G>A | CA494470691 | IL4R | c.1446G>A (p.Leu482=) c.1401G>A (p.Leu467=) c.230-1305G>A (n.230-1305G>A) c.*1489G>A (n.*1489G>A) c.966G>A (p.Leu322=) c.555G>A (p.Leu185=) c.495G>A (p.Leu165=) c.1179G>A (p.Leu393=) c.1149G>A (p.Leu383=) c.1023G>A (p.Leu341=) c.*481G>A (n.*481G>A) | |
16 | g.27362798G>C | CA494470692 | IL4R | c.1446G>C (p.Leu482=) c.1401G>C (p.Leu467=) c.230-1305G>C (n.230-1305G>C) c.*1489G>C (n.*1489G>C) c.966G>C (p.Leu322=) c.555G>C (p.Leu185=) c.495G>C (p.Leu165=) c.1179G>C (p.Leu393=) c.1149G>C (p.Leu383=) c.1023G>C (p.Leu341=) c.*481G>C (n.*481G>C) | |
16 | g.27362798G>T | CA494470693 | IL4R | c.1446G>T (p.Leu482=) c.1401G>T (p.Leu467=) c.230-1305G>T (n.230-1305G>T) c.*1489G>T (n.*1489G>T) c.966G>T (p.Leu322=) c.555G>T (p.Leu185=) c.495G>T (p.Leu165=) c.1179G>T (p.Leu393=) c.1149G>T (p.Leu383=) c.1023G>T (p.Leu341=) c.*481G>T (n.*481G>T) | |
16 | g.27362799A= | CA2215169796 | IL4R | c.1447A= (p.Thr483=) c.1402A= (p.Thr468=) c.230-1304A= (n.230-1304A=) c.*1490A= (n.*1490A=) c.967A= (p.Thr323=) c.556A= (p.Thr186=) c.496A= (p.Thr166=) c.1180A= (p.Thr394=) c.1150A= (p.Thr384=) c.1024A= (p.Thr342=) c.*482A= (n.*482A=) | |
16 | g.27362799A>C | CA395298913 | IL4R | c.1447A>C (p.Thr483Pro) c.1402A>C (p.Thr468Pro) c.230-1304A>C (n.230-1304A>C) c.*1490A>C (n.*1490A>C) c.967A>C (p.Thr323Pro) c.556A>C (p.Thr186Pro) c.496A>C (p.Thr166Pro) c.1180A>C (p.Thr394Pro) c.1150A>C (p.Thr384Pro) c.1024A>C (p.Thr342Pro) c.*482A>C (n.*482A>C) | |
16 | g.27362799A>G | CA395298914 | IL4R | c.1447A>G (p.Thr483Ala) c.1402A>G (p.Thr468Ala) c.230-1304A>G (n.230-1304A>G) c.*1490A>G (n.*1490A>G) c.967A>G (p.Thr323Ala) c.556A>G (p.Thr186Ala) c.496A>G (p.Thr166Ala) c.1180A>G (p.Thr394Ala) c.1150A>G (p.Thr384Ala) c.1024A>G (p.Thr342Ala) c.*482A>G (n.*482A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362799A>T | CA395298915 | IL4R | c.1447A>T (p.Thr483Ser) c.1402A>T (p.Thr468Ser) c.230-1304A>T (n.230-1304A>T) c.*1490A>T (n.*1490A>T) c.967A>T (p.Thr323Ser) c.556A>T (p.Thr186Ser) c.496A>T (p.Thr166Ser) c.1180A>T (p.Thr394Ser) c.1150A>T (p.Thr384Ser) c.1024A>T (p.Thr342Ser) c.*482A>T (n.*482A>T) | |
16 | g.27362800C>A | CA395298916 | IL4R | c.1448C>A (p.Thr483Asn) c.1403C>A (p.Thr468Asn) c.230-1303C>A (n.230-1303C>A) c.*1491C>A (n.*1491C>A) c.968C>A (p.Thr323Asn) c.557C>A (p.Thr186Asn) c.497C>A (p.Thr166Asn) c.1181C>A (p.Thr394Asn) c.1151C>A (p.Thr384Asn) c.1025C>A (p.Thr342Asn) c.*483C>A (n.*483C>A) | |
16 | g.27362800C>G | CA395298917 | IL4R | c.1448C>G (p.Thr483Ser) c.1403C>G (p.Thr468Ser) c.230-1303C>G (n.230-1303C>G) c.*1491C>G (n.*1491C>G) c.968C>G (p.Thr323Ser) c.557C>G (p.Thr186Ser) c.497C>G (p.Thr166Ser) c.1181C>G (p.Thr394Ser) c.1151C>G (p.Thr384Ser) c.1025C>G (p.Thr342Ser) c.*483C>G (n.*483C>G) | |
16 | g.27362800C>T | CA395298918 | IL4R | c.1448C>T (p.Thr483Ile) c.1403C>T (p.Thr468Ile) c.230-1303C>T (n.230-1303C>T) c.*1491C>T (n.*1491C>T) c.968C>T (p.Thr323Ile) c.557C>T (p.Thr186Ile) c.497C>T (p.Thr166Ile) c.1181C>T (p.Thr394Ile) c.1151C>T (p.Thr384Ile) c.1025C>T (p.Thr342Ile) c.*483C>T (n.*483C>T) |