Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.27362643T>ACA395298365IL4Rc.1291T>A (p.Cys431Ser)
c.1246T>A (p.Cys416Ser)
c.230-1460T>A (n.230-1460T>A)
c.*1334T>A (n.*1334T>A)
c.811T>A (p.Cys271Ser)
c.400T>A (p.Cys134Ser)
c.340T>A (p.Cys114Ser)
c.1024T>A (p.Cys342Ser)
c.994T>A (p.Cys332Ser)
c.868T>A (p.Cys290Ser)
c.*326T>A (n.*326T>A)
16g.27362643T>CCA7974530IL4Rc.1291T>C (p.Cys431Arg)
c.1246T>C (p.Cys416Arg)
c.230-1460T>C (n.230-1460T>C)
c.*1334T>C (n.*1334T>C)
c.811T>C (p.Cys271Arg)
c.400T>C (p.Cys134Arg)
c.340T>C (p.Cys114Arg)
c.1024T>C (p.Cys342Arg)
c.994T>C (p.Cys332Arg)
c.868T>C (p.Cys290Arg)
c.*326T>C (n.*326T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362643T>GCA395298361IL4Rc.1291T>G (p.Cys431Gly)
c.1246T>G (p.Cys416Gly)
c.230-1460T>G (n.230-1460T>G)
c.*1334T>G (n.*1334T>G)
c.811T>G (p.Cys271Gly)
c.400T>G (p.Cys134Gly)
c.340T>G (p.Cys114Gly)
c.1024T>G (p.Cys342Gly)
c.994T>G (p.Cys332Gly)
c.868T>G (p.Cys290Gly)
c.*326T>G (n.*326T>G)
16g.27362643T=CA2215169569IL4Rc.1291T= (p.Cys431=)
c.1246T= (p.Cys416=)
c.230-1460T= (n.230-1460T=)
c.*1334T= (n.*1334T=)
c.811T= (p.Cys271=)
c.400T= (p.Cys134=)
c.340T= (p.Cys114=)
c.1024T= (p.Cys342=)
c.994T= (p.Cys332=)
c.868T= (p.Cys290=)
c.*326T= (n.*326T=)
16g.27362644G>ACA395298368IL4Rc.1292G>A (p.Cys431Tyr)
c.1247G>A (p.Cys416Tyr)
c.230-1459G>A (n.230-1459G>A)
c.*1335G>A (n.*1335G>A)
c.812G>A (p.Cys271Tyr)
c.401G>A (p.Cys134Tyr)
c.341G>A (p.Cys114Tyr)
c.1025G>A (p.Cys342Tyr)
c.995G>A (p.Cys332Tyr)
c.869G>A (p.Cys290Tyr)
c.*327G>A (n.*327G>A)
16g.27362644G>CCA395298370IL4Rc.1292G>C (p.Cys431Ser)
c.1247G>C (p.Cys416Ser)
c.230-1459G>C (n.230-1459G>C)
c.*1335G>C (n.*1335G>C)
c.812G>C (p.Cys271Ser)
c.401G>C (p.Cys134Ser)
c.341G>C (p.Cys114Ser)
c.1025G>C (p.Cys342Ser)
c.995G>C (p.Cys332Ser)
c.869G>C (p.Cys290Ser)
c.*327G>C (n.*327G>C)
16g.27362644G>TCA395298372IL4Rc.1292G>T (p.Cys431Phe)
c.1247G>T (p.Cys416Phe)
c.230-1459G>T (n.230-1459G>T)
c.*1335G>T (n.*1335G>T)
c.812G>T (p.Cys271Phe)
c.401G>T (p.Cys134Phe)
c.341G>T (p.Cys114Phe)
c.1025G>T (p.Cys342Phe)
c.995G>T (p.Cys332Phe)
c.869G>T (p.Cys290Phe)
c.*327G>T (n.*327G>T)
16g.27362645C>ACA395298379IL4Rc.1293C>A (p.Cys431Ter)
c.1248C>A (p.Cys416Ter)
c.230-1458C>A (n.230-1458C>A)
c.*1336C>A (n.*1336C>A)
c.813C>A (p.Cys271Ter)
c.402C>A (p.Cys134Ter)
c.342C>A (p.Cys114Ter)
c.1026C>A (p.Cys342Ter)
c.996C>A (p.Cys332Ter)
c.870C>A (p.Cys290Ter)
c.*328C>A (n.*328C>A)
16g.27362645C=CA2215169571IL4Rc.1293C= (p.Cys431=)
c.1248C= (p.Cys416=)
c.230-1458C= (n.230-1458C=)
c.*1336C= (n.*1336C=)
c.813C= (p.Cys271=)
c.402C= (p.Cys134=)
c.342C= (p.Cys114=)
c.1026C= (p.Cys342=)
c.996C= (p.Cys332=)
c.870C= (p.Cys290=)
c.*328C= (n.*328C=)
16g.27362645C>GCA395298380IL4Rc.1293C>G (p.Cys431Trp)
c.1248C>G (p.Cys416Trp)
c.230-1458C>G (n.230-1458C>G)
c.*1336C>G (n.*1336C>G)
c.813C>G (p.Cys271Trp)
c.402C>G (p.Cys134Trp)
c.342C>G (p.Cys114Trp)
c.1026C>G (p.Cys342Trp)
c.996C>G (p.Cys332Trp)
c.870C>G (p.Cys290Trp)
c.*328C>G (n.*328C>G)
16g.27362645C>TCA7974531IL4Rc.1293C>T (p.Cys431=)
c.1248C>T (p.Cys416=)
c.230-1458C>T (n.230-1458C>T)
c.*1336C>T (n.*1336C>T)
c.813C>T (p.Cys271=)
c.402C>T (p.Cys134=)
c.342C>T (p.Cys114=)
c.1026C>T (p.Cys342=)
c.996C>T (p.Cys332=)
c.870C>T (p.Cys290=)
c.*328C>T (n.*328C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362645_27362648delinsCCTTCA2215169572IL4Rc.1293_1296delinsCCTT (p.Cys431=)
c.1248_1251delinsCCTT (p.Cys416=)
c.230-1458_230-1455delinsCCTT (n.230-1458_230-1455delinsCCTT)
c.*1336_*1339delinsCCTT (n.*1336_*1339delinsCCTT)
c.813_816delinsCCTT (p.Cys271=)
c.402_405delinsCCTT (p.Cys134=)
c.342_345delinsCCTT (p.Cys114=)
c.1026_1029delinsCCTT (p.Cys342=)
c.996_999delinsCCTT (p.Cys332=)
c.870_873delinsCCTT (p.Cys290=)
c.*328_*331delinsCCTT (n.*328_*331delinsCCTT)
16g.27362646C>ACA395298386IL4Rc.1294C>A (p.Leu432Ile)
c.1249C>A (p.Leu417Ile)
c.230-1457C>A (n.230-1457C>A)
c.*1337C>A (n.*1337C>A)
c.814C>A (p.Leu272Ile)
c.403C>A (p.Leu135Ile)
c.343C>A (p.Leu115Ile)
c.1027C>A (p.Leu343Ile)
c.997C>A (p.Leu333Ile)
c.871C>A (p.Leu291Ile)
c.*329C>A (n.*329C>A)
16g.27362646C=CA2215169573IL4Rc.1294C= (p.Leu432=)
c.1249C= (p.Leu417=)
c.230-1457C= (n.230-1457C=)
c.*1337C= (n.*1337C=)
c.814C= (p.Leu272=)
c.403C= (p.Leu135=)
c.343C= (p.Leu115=)
c.1027C= (p.Leu343=)
c.997C= (p.Leu333=)
c.871C= (p.Leu291=)
c.*329C= (n.*329C=)
16g.27362646C>GCA395298388IL4Rc.1294C>G (p.Leu432Val)
c.1249C>G (p.Leu417Val)
c.230-1457C>G (n.230-1457C>G)
c.*1337C>G (n.*1337C>G)
c.814C>G (p.Leu272Val)
c.403C>G (p.Leu135Val)
c.343C>G (p.Leu115Val)
c.1027C>G (p.Leu343Val)
c.997C>G (p.Leu333Val)
c.871C>G (p.Leu291Val)
c.*329C>G (n.*329C>G)
16g.27362646C>TCA7974532IL4Rc.1294C>T (p.Leu432Phe)
c.1249C>T (p.Leu417Phe)
c.230-1457C>T (n.230-1457C>T)
c.*1337C>T (n.*1337C>T)
c.814C>T (p.Leu272Phe)
c.403C>T (p.Leu135Phe)
c.343C>T (p.Leu115Phe)
c.1027C>T (p.Leu343Phe)
c.997C>T (p.Leu333Phe)
c.871C>T (p.Leu291Phe)
c.*329C>T (n.*329C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.27362650_27362652delCA719576827IL4Rc.1298_1300del (p.Leu433del)
c.1253_1255del (p.Leu418del)
c.230-1453_230-1451del (n.230-1453_230-1451del)
c.*1341_*1343del (n.*1341_*1343del)
c.818_820del (p.Leu273del)
c.407_409del (p.Leu136del)
c.347_349del (p.Leu116del)
c.1031_1033del (p.Leu344del)
c.1001_1003del (p.Leu334del)
c.875_877del (p.Leu292del)
c.*333_*335del (n.*333_*335del)
dbSNP
16g.27362647T>ACA395298391IL4Rc.1295T>A (p.Leu432His)
c.1250T>A (p.Leu417His)
c.230-1456T>A (n.230-1456T>A)
c.*1338T>A (n.*1338T>A)
c.815T>A (p.Leu272His)
c.404T>A (p.Leu135His)
c.344T>A (p.Leu115His)
c.1028T>A (p.Leu343His)
c.998T>A (p.Leu333His)
c.872T>A (p.Leu291His)
c.*330T>A (n.*330T>A)
16g.27362647T>CCA395298393IL4Rc.1295T>C (p.Leu432Pro)
c.1250T>C (p.Leu417Pro)
c.230-1456T>C (n.230-1456T>C)
c.*1338T>C (n.*1338T>C)
c.815T>C (p.Leu272Pro)
c.404T>C (p.Leu135Pro)
c.344T>C (p.Leu115Pro)
c.1028T>C (p.Leu343Pro)
c.998T>C (p.Leu333Pro)
c.872T>C (p.Leu291Pro)
c.*330T>C (n.*330T>C)
16g.27362647T>GCA395298394IL4Rc.1295T>G (p.Leu432Arg)
c.1250T>G (p.Leu417Arg)
c.230-1456T>G (n.230-1456T>G)
c.*1338T>G (n.*1338T>G)
c.815T>G (p.Leu272Arg)
c.404T>G (p.Leu135Arg)
c.344T>G (p.Leu115Arg)
c.1028T>G (p.Leu343Arg)
c.998T>G (p.Leu333Arg)
c.872T>G (p.Leu291Arg)
c.*330T>G (n.*330T>G)
16g.27362648T>ACA494470520IL4Rc.1296T>A (p.Leu432=)
c.1251T>A (p.Leu417=)
c.230-1455T>A (n.230-1455T>A)
c.*1339T>A (n.*1339T>A)
c.816T>A (p.Leu272=)
c.405T>A (p.Leu135=)
c.345T>A (p.Leu115=)
c.1029T>A (p.Leu343=)
c.999T>A (p.Leu333=)
c.873T>A (p.Leu291=)
c.*331T>A (n.*331T>A)
16g.27362648T>CCA279686581IL4Rc.1296T>C (p.Leu432=)
c.1251T>C (p.Leu417=)
c.230-1455T>C (n.230-1455T>C)
c.*1339T>C (n.*1339T>C)
c.816T>C (p.Leu272=)
c.405T>C (p.Leu135=)
c.345T>C (p.Leu115=)
c.1029T>C (p.Leu343=)
c.999T>C (p.Leu333=)
c.873T>C (p.Leu291=)
c.*331T>C (n.*331T>C)
dbSNP
16g.27362648T>GCA494470519IL4Rc.1296T>G (p.Leu432=)
c.1251T>G (p.Leu417=)
c.230-1455T>G (n.230-1455T>G)
c.*1339T>G (n.*1339T>G)
c.816T>G (p.Leu272=)
c.405T>G (p.Leu135=)
c.345T>G (p.Leu115=)
c.1029T>G (p.Leu343=)
c.999T>G (p.Leu333=)
c.873T>G (p.Leu291=)
c.*331T>G (n.*331T>G)
16g.27362648T=CA2215169578IL4Rc.1296T= (p.Leu432=)
c.1251T= (p.Leu417=)
c.230-1455T= (n.230-1455T=)
c.*1339T= (n.*1339T=)
c.816T= (p.Leu272=)
c.405T= (p.Leu135=)
c.345T= (p.Leu115=)
c.1029T= (p.Leu343=)
c.999T= (p.Leu333=)
c.873T= (p.Leu291=)
c.*331T= (n.*331T=)
16g.27362649C>ACA395298402IL4Rc.1297C>A (p.Leu433Ile)
c.1252C>A (p.Leu418Ile)
c.230-1454C>A (n.230-1454C>A)
c.*1340C>A (n.*1340C>A)
c.817C>A (p.Leu273Ile)
c.406C>A (p.Leu136Ile)
c.346C>A (p.Leu116Ile)
c.1030C>A (p.Leu344Ile)
c.1000C>A (p.Leu334Ile)
c.874C>A (p.Leu292Ile)
c.*332C>A (n.*332C>A)
16g.27362649C>GCA395298399IL4Rc.1297C>G (p.Leu433Val)
c.1252C>G (p.Leu418Val)
c.230-1454C>G (n.230-1454C>G)
c.*1340C>G (n.*1340C>G)
c.817C>G (p.Leu273Val)
c.406C>G (p.Leu136Val)
c.346C>G (p.Leu116Val)
c.1030C>G (p.Leu344Val)
c.1000C>G (p.Leu334Val)
c.874C>G (p.Leu292Val)
c.*332C>G (n.*332C>G)
16g.27362649C>TCA395298397IL4Rc.1297C>T (p.Leu433Phe)
c.1252C>T (p.Leu418Phe)
c.230-1454C>T (n.230-1454C>T)
c.*1340C>T (n.*1340C>T)
c.817C>T (p.Leu273Phe)
c.406C>T (p.Leu136Phe)
c.346C>T (p.Leu116Phe)
c.1030C>T (p.Leu344Phe)
c.1000C>T (p.Leu334Phe)
c.874C>T (p.Leu292Phe)
c.*332C>T (n.*332C>T)
16g.27362650T>ACA395298408IL4Rc.1298T>A (p.Leu433His)
c.1253T>A (p.Leu418His)
c.230-1453T>A (n.230-1453T>A)
c.*1341T>A (n.*1341T>A)
c.818T>A (p.Leu273His)
c.407T>A (p.Leu136His)
c.347T>A (p.Leu116His)
c.1031T>A (p.Leu344His)
c.1001T>A (p.Leu334His)
c.875T>A (p.Leu292His)
c.*333T>A (n.*333T>A)
16g.27362650T>CCA279686587IL4Rc.1298T>C (p.Leu433Pro)
c.1253T>C (p.Leu418Pro)
c.230-1453T>C (n.230-1453T>C)
c.*1341T>C (n.*1341T>C)
c.818T>C (p.Leu273Pro)
c.407T>C (p.Leu136Pro)
c.347T>C (p.Leu116Pro)
c.1031T>C (p.Leu344Pro)
c.1001T>C (p.Leu334Pro)
c.875T>C (p.Leu292Pro)
c.*333T>C (n.*333T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.27362650T>GCA395298407IL4Rc.1298T>G (p.Leu433Arg)
c.1253T>G (p.Leu418Arg)
c.230-1453T>G (n.230-1453T>G)
c.*1341T>G (n.*1341T>G)
c.818T>G (p.Leu273Arg)
c.407T>G (p.Leu136Arg)
c.347T>G (p.Leu116Arg)
c.1031T>G (p.Leu344Arg)
c.1001T>G (p.Leu334Arg)
c.875T>G (p.Leu292Arg)
c.*333T>G (n.*333T>G)
16g.27362650T=CA2215169582IL4Rc.1298T= (p.Leu433=)
c.1253T= (p.Leu418=)
c.230-1453T= (n.230-1453T=)
c.*1341T= (n.*1341T=)
c.818T= (p.Leu273=)
c.407T= (p.Leu136=)
c.347T= (p.Leu116=)
c.1031T= (p.Leu344=)
c.1001T= (p.Leu334=)
c.875T= (p.Leu292=)
c.*333T= (n.*333T=)
16g.27362651T>ACA494470521IL4Rc.1299T>A (p.Leu433=)
c.1254T>A (p.Leu418=)
c.230-1452T>A (n.230-1452T>A)
c.*1342T>A (n.*1342T>A)
c.819T>A (p.Leu273=)
c.408T>A (p.Leu136=)
c.348T>A (p.Leu116=)
c.1032T>A (p.Leu344=)
c.1002T>A (p.Leu334=)
c.876T>A (p.Leu292=)
c.*334T>A (n.*334T>A)
16g.27362651T>CCA7974533IL4Rc.1299T>C (p.Leu433=)
c.1254T>C (p.Leu418=)
c.230-1452T>C (n.230-1452T>C)
c.*1342T>C (n.*1342T>C)
c.819T>C (p.Leu273=)
c.408T>C (p.Leu136=)
c.348T>C (p.Leu116=)
c.1032T>C (p.Leu344=)
c.1002T>C (p.Leu334=)
c.876T>C (p.Leu292=)
c.*334T>C (n.*334T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362651T>GCA494470522IL4Rc.1299T>G (p.Leu433=)
c.1254T>G (p.Leu418=)
c.230-1452T>G (n.230-1452T>G)
c.*1342T>G (n.*1342T>G)
c.819T>G (p.Leu273=)
c.408T>G (p.Leu136=)
c.348T>G (p.Leu116=)
c.1032T>G (p.Leu344=)
c.1002T>G (p.Leu334=)
c.876T>G (p.Leu292=)
c.*334T>G (n.*334T>G)
16g.27362651T=CA2215169588IL4Rc.1299T= (p.Leu433=)
c.1254T= (p.Leu418=)
c.230-1452T= (n.230-1452T=)
c.*1342T= (n.*1342T=)
c.819T= (p.Leu273=)
c.408T= (p.Leu136=)
c.348T= (p.Leu116=)
c.1032T= (p.Leu344=)
c.1002T= (p.Leu334=)
c.876T= (p.Leu292=)
c.*334T= (n.*334T=)
16g.27362652C>ACA395298412IL4Rc.1300C>A (p.Pro434Thr)
c.1255C>A (p.Pro419Thr)
c.230-1451C>A (n.230-1451C>A)
c.*1343C>A (n.*1343C>A)
c.820C>A (p.Pro274Thr)
c.409C>A (p.Pro137Thr)
c.349C>A (p.Pro117Thr)
c.1033C>A (p.Pro345Thr)
c.1003C>A (p.Pro335Thr)
c.877C>A (p.Pro293Thr)
c.*335C>A (n.*335C>A)
16g.27362652C>GCA395298414IL4Rc.1300C>G (p.Pro434Ala)
c.1255C>G (p.Pro419Ala)
c.230-1451C>G (n.230-1451C>G)
c.*1343C>G (n.*1343C>G)
c.820C>G (p.Pro274Ala)
c.409C>G (p.Pro137Ala)
c.349C>G (p.Pro117Ala)
c.1033C>G (p.Pro345Ala)
c.1003C>G (p.Pro335Ala)
c.877C>G (p.Pro293Ala)
c.*335C>G (n.*335C>G)
16g.27362652C>TCA395298416IL4Rc.1300C>T (p.Pro434Ser)
c.1255C>T (p.Pro419Ser)
c.230-1451C>T (n.230-1451C>T)
c.*1343C>T (n.*1343C>T)
c.820C>T (p.Pro274Ser)
c.409C>T (p.Pro137Ser)
c.349C>T (p.Pro117Ser)
c.1033C>T (p.Pro345Ser)
c.1003C>T (p.Pro335Ser)
c.877C>T (p.Pro293Ser)
c.*335C>T (n.*335C>T)
gnomAD v4
16g.27362653C>ACA395298417IL4Rc.1301C>A (p.Pro434Gln)
c.1256C>A (p.Pro419Gln)
c.230-1450C>A (n.230-1450C>A)
c.*1344C>A (n.*1344C>A)
c.821C>A (p.Pro274Gln)
c.410C>A (p.Pro137Gln)
c.350C>A (p.Pro117Gln)
c.1034C>A (p.Pro345Gln)
c.1004C>A (p.Pro335Gln)
c.878C>A (p.Pro293Gln)
c.*336C>A (n.*336C>A)
16g.27362653C>GCA395298418IL4Rc.1301C>G (p.Pro434Arg)
c.1256C>G (p.Pro419Arg)
c.230-1450C>G (n.230-1450C>G)
c.*1344C>G (n.*1344C>G)
c.821C>G (p.Pro274Arg)
c.410C>G (p.Pro137Arg)
c.350C>G (p.Pro117Arg)
c.1034C>G (p.Pro345Arg)
c.1004C>G (p.Pro335Arg)
c.878C>G (p.Pro293Arg)
c.*336C>G (n.*336C>G)
16g.27362653C>TCA395298419IL4Rc.1301C>T (p.Pro434Leu)
c.1256C>T (p.Pro419Leu)
c.230-1450C>T (n.230-1450C>T)
c.*1344C>T (n.*1344C>T)
c.821C>T (p.Pro274Leu)
c.410C>T (p.Pro137Leu)
c.350C>T (p.Pro117Leu)
c.1034C>T (p.Pro345Leu)
c.1004C>T (p.Pro335Leu)
c.878C>T (p.Pro293Leu)
c.*336C>T (n.*336C>T)
gnomAD v4 COSMIC
16g.27362654A>CCA494470523IL4Rc.1302A>C (p.Pro434=)
c.1257A>C (p.Pro419=)
c.230-1449A>C (n.230-1449A>C)
c.*1345A>C (n.*1345A>C)
c.822A>C (p.Pro274=)
c.411A>C (p.Pro137=)
c.351A>C (p.Pro117=)
c.1035A>C (p.Pro345=)
c.1005A>C (p.Pro335=)
c.879A>C (p.Pro293=)
c.*337A>C (n.*337A>C)
16g.27362654A>GCA494470525IL4Rc.1302A>G (p.Pro434=)
c.1257A>G (p.Pro419=)
c.230-1449A>G (n.230-1449A>G)
c.*1345A>G (n.*1345A>G)
c.822A>G (p.Pro274=)
c.411A>G (p.Pro137=)
c.351A>G (p.Pro117=)
c.1035A>G (p.Pro345=)
c.1005A>G (p.Pro335=)
c.879A>G (p.Pro293=)
c.*337A>G (n.*337A>G)
gnomAD v4
16g.27362654A>TCA494470524IL4Rc.1302A>T (p.Pro434=)
c.1257A>T (p.Pro419=)
c.230-1449A>T (n.230-1449A>T)
c.*1345A>T (n.*1345A>T)
c.822A>T (p.Pro274=)
c.411A>T (p.Pro137=)
c.351A>T (p.Pro117=)
c.1035A>T (p.Pro345=)
c.1005A>T (p.Pro335=)
c.879A>T (p.Pro293=)
c.*337A>T (n.*337A>T)
16g.27362654_27362655delinsACCA2215169591IL4Rc.1302_1303delinsAC (p.Pro434=)
c.1257_1258delinsAC (p.Pro419=)
c.230-1449_230-1448delinsAC (n.230-1449_230-1448delinsAC)
c.*1345_*1346delinsAC (n.*1345_*1346delinsAC)
c.822_823delinsAC (p.Pro274=)
c.411_412delinsAC (p.Pro137=)
c.351_352delinsAC (p.Pro117=)
c.1035_1036delinsAC (p.Pro345=)
c.1005_1006delinsAC (p.Pro335=)
c.879_880delinsAC (p.Pro293=)
c.*337_*338delinsAC (n.*337_*338delinsAC)
16g.27362655C>ACA395298420IL4Rc.1303C>A (p.Pro435Thr)
c.1258C>A (p.Pro420Thr)
c.230-1448C>A (n.230-1448C>A)
c.*1346C>A (n.*1346C>A)
c.823C>A (p.Pro275Thr)
c.412C>A (p.Pro138Thr)
c.352C>A (p.Pro118Thr)
c.1036C>A (p.Pro346Thr)
c.1006C>A (p.Pro336Thr)
c.880C>A (p.Pro294Thr)
c.*338C>A (n.*338C>A)
16g.27362655C=CA2215169597IL4Rc.1303C= (p.Pro435=)
c.1258C= (p.Pro420=)
c.230-1448C= (n.230-1448C=)
c.*1346C= (n.*1346C=)
c.823C= (p.Pro275=)
c.412C= (p.Pro138=)
c.352C= (p.Pro118=)
c.1036C= (p.Pro346=)
c.1006C= (p.Pro336=)
c.880C= (p.Pro294=)
c.*338C= (n.*338C=)
16g.27362655C>GCA395298421IL4Rc.1303C>G (p.Pro435Ala)
c.1258C>G (p.Pro420Ala)
c.230-1448C>G (n.230-1448C>G)
c.*1346C>G (n.*1346C>G)
c.823C>G (p.Pro275Ala)
c.412C>G (p.Pro138Ala)
c.352C>G (p.Pro118Ala)
c.1036C>G (p.Pro346Ala)
c.1006C>G (p.Pro336Ala)
c.880C>G (p.Pro294Ala)
c.*338C>G (n.*338C>G)
16g.27362655C>TCA7974534IL4Rc.1303C>T (p.Pro435Ser)
c.1258C>T (p.Pro420Ser)
c.230-1448C>T (n.230-1448C>T)
c.*1346C>T (n.*1346C>T)
c.823C>T (p.Pro275Ser)
c.412C>T (p.Pro138Ser)
c.352C>T (p.Pro118Ser)
c.1036C>T (p.Pro346Ser)
c.1006C>T (p.Pro336Ser)
c.880C>T (p.Pro294Ser)
c.*338C>T (n.*338C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.27362656delCA494470526IL4Rc.1304del (p.Pro435LeufsTer?)
c.1259del (p.Pro420LeufsTer?)
c.230-1447del (n.230-1447del)
c.*1347del (n.*1347del)
c.824del (p.Pro275LeufsTer?)
c.413del (p.Pro138LeufsTer?)
c.353del (p.Pro118LeufsTer?)
c.1037del (p.Pro346LeufsTer?)
c.1007del (p.Pro336LeufsTer?)
c.881del (p.Pro294LeufsTer?)
c.*339del (n.*339del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched