Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.27362643T>A | CA395298365 | IL4R | c.1291T>A (p.Cys431Ser) c.1246T>A (p.Cys416Ser) c.230-1460T>A (n.230-1460T>A) c.*1334T>A (n.*1334T>A) c.811T>A (p.Cys271Ser) c.400T>A (p.Cys134Ser) c.340T>A (p.Cys114Ser) c.1024T>A (p.Cys342Ser) c.994T>A (p.Cys332Ser) c.868T>A (p.Cys290Ser) c.*326T>A (n.*326T>A) | |
16 | g.27362643T>C | CA7974530 | IL4R | c.1291T>C (p.Cys431Arg) c.1246T>C (p.Cys416Arg) c.230-1460T>C (n.230-1460T>C) c.*1334T>C (n.*1334T>C) c.811T>C (p.Cys271Arg) c.400T>C (p.Cys134Arg) c.340T>C (p.Cys114Arg) c.1024T>C (p.Cys342Arg) c.994T>C (p.Cys332Arg) c.868T>C (p.Cys290Arg) c.*326T>C (n.*326T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362643T>G | CA395298361 | IL4R | c.1291T>G (p.Cys431Gly) c.1246T>G (p.Cys416Gly) c.230-1460T>G (n.230-1460T>G) c.*1334T>G (n.*1334T>G) c.811T>G (p.Cys271Gly) c.400T>G (p.Cys134Gly) c.340T>G (p.Cys114Gly) c.1024T>G (p.Cys342Gly) c.994T>G (p.Cys332Gly) c.868T>G (p.Cys290Gly) c.*326T>G (n.*326T>G) | |
16 | g.27362643T= | CA2215169569 | IL4R | c.1291T= (p.Cys431=) c.1246T= (p.Cys416=) c.230-1460T= (n.230-1460T=) c.*1334T= (n.*1334T=) c.811T= (p.Cys271=) c.400T= (p.Cys134=) c.340T= (p.Cys114=) c.1024T= (p.Cys342=) c.994T= (p.Cys332=) c.868T= (p.Cys290=) c.*326T= (n.*326T=) | |
16 | g.27362644G>A | CA395298368 | IL4R | c.1292G>A (p.Cys431Tyr) c.1247G>A (p.Cys416Tyr) c.230-1459G>A (n.230-1459G>A) c.*1335G>A (n.*1335G>A) c.812G>A (p.Cys271Tyr) c.401G>A (p.Cys134Tyr) c.341G>A (p.Cys114Tyr) c.1025G>A (p.Cys342Tyr) c.995G>A (p.Cys332Tyr) c.869G>A (p.Cys290Tyr) c.*327G>A (n.*327G>A) | |
16 | g.27362644G>C | CA395298370 | IL4R | c.1292G>C (p.Cys431Ser) c.1247G>C (p.Cys416Ser) c.230-1459G>C (n.230-1459G>C) c.*1335G>C (n.*1335G>C) c.812G>C (p.Cys271Ser) c.401G>C (p.Cys134Ser) c.341G>C (p.Cys114Ser) c.1025G>C (p.Cys342Ser) c.995G>C (p.Cys332Ser) c.869G>C (p.Cys290Ser) c.*327G>C (n.*327G>C) | |
16 | g.27362644G>T | CA395298372 | IL4R | c.1292G>T (p.Cys431Phe) c.1247G>T (p.Cys416Phe) c.230-1459G>T (n.230-1459G>T) c.*1335G>T (n.*1335G>T) c.812G>T (p.Cys271Phe) c.401G>T (p.Cys134Phe) c.341G>T (p.Cys114Phe) c.1025G>T (p.Cys342Phe) c.995G>T (p.Cys332Phe) c.869G>T (p.Cys290Phe) c.*327G>T (n.*327G>T) | |
16 | g.27362645C>A | CA395298379 | IL4R | c.1293C>A (p.Cys431Ter) c.1248C>A (p.Cys416Ter) c.230-1458C>A (n.230-1458C>A) c.*1336C>A (n.*1336C>A) c.813C>A (p.Cys271Ter) c.402C>A (p.Cys134Ter) c.342C>A (p.Cys114Ter) c.1026C>A (p.Cys342Ter) c.996C>A (p.Cys332Ter) c.870C>A (p.Cys290Ter) c.*328C>A (n.*328C>A) | |
16 | g.27362645C= | CA2215169571 | IL4R | c.1293C= (p.Cys431=) c.1248C= (p.Cys416=) c.230-1458C= (n.230-1458C=) c.*1336C= (n.*1336C=) c.813C= (p.Cys271=) c.402C= (p.Cys134=) c.342C= (p.Cys114=) c.1026C= (p.Cys342=) c.996C= (p.Cys332=) c.870C= (p.Cys290=) c.*328C= (n.*328C=) | |
16 | g.27362645C>G | CA395298380 | IL4R | c.1293C>G (p.Cys431Trp) c.1248C>G (p.Cys416Trp) c.230-1458C>G (n.230-1458C>G) c.*1336C>G (n.*1336C>G) c.813C>G (p.Cys271Trp) c.402C>G (p.Cys134Trp) c.342C>G (p.Cys114Trp) c.1026C>G (p.Cys342Trp) c.996C>G (p.Cys332Trp) c.870C>G (p.Cys290Trp) c.*328C>G (n.*328C>G) | |
16 | g.27362645C>T | CA7974531 | IL4R | c.1293C>T (p.Cys431=) c.1248C>T (p.Cys416=) c.230-1458C>T (n.230-1458C>T) c.*1336C>T (n.*1336C>T) c.813C>T (p.Cys271=) c.402C>T (p.Cys134=) c.342C>T (p.Cys114=) c.1026C>T (p.Cys342=) c.996C>T (p.Cys332=) c.870C>T (p.Cys290=) c.*328C>T (n.*328C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362645_27362648delinsCCTT | CA2215169572 | IL4R | c.1293_1296delinsCCTT (p.Cys431=) c.1248_1251delinsCCTT (p.Cys416=) c.230-1458_230-1455delinsCCTT (n.230-1458_230-1455delinsCCTT) c.*1336_*1339delinsCCTT (n.*1336_*1339delinsCCTT) c.813_816delinsCCTT (p.Cys271=) c.402_405delinsCCTT (p.Cys134=) c.342_345delinsCCTT (p.Cys114=) c.1026_1029delinsCCTT (p.Cys342=) c.996_999delinsCCTT (p.Cys332=) c.870_873delinsCCTT (p.Cys290=) c.*328_*331delinsCCTT (n.*328_*331delinsCCTT) | |
16 | g.27362646C>A | CA395298386 | IL4R | c.1294C>A (p.Leu432Ile) c.1249C>A (p.Leu417Ile) c.230-1457C>A (n.230-1457C>A) c.*1337C>A (n.*1337C>A) c.814C>A (p.Leu272Ile) c.403C>A (p.Leu135Ile) c.343C>A (p.Leu115Ile) c.1027C>A (p.Leu343Ile) c.997C>A (p.Leu333Ile) c.871C>A (p.Leu291Ile) c.*329C>A (n.*329C>A) | |
16 | g.27362646C= | CA2215169573 | IL4R | c.1294C= (p.Leu432=) c.1249C= (p.Leu417=) c.230-1457C= (n.230-1457C=) c.*1337C= (n.*1337C=) c.814C= (p.Leu272=) c.403C= (p.Leu135=) c.343C= (p.Leu115=) c.1027C= (p.Leu343=) c.997C= (p.Leu333=) c.871C= (p.Leu291=) c.*329C= (n.*329C=) | |
16 | g.27362646C>G | CA395298388 | IL4R | c.1294C>G (p.Leu432Val) c.1249C>G (p.Leu417Val) c.230-1457C>G (n.230-1457C>G) c.*1337C>G (n.*1337C>G) c.814C>G (p.Leu272Val) c.403C>G (p.Leu135Val) c.343C>G (p.Leu115Val) c.1027C>G (p.Leu343Val) c.997C>G (p.Leu333Val) c.871C>G (p.Leu291Val) c.*329C>G (n.*329C>G) | |
16 | g.27362646C>T | CA7974532 | IL4R | c.1294C>T (p.Leu432Phe) c.1249C>T (p.Leu417Phe) c.230-1457C>T (n.230-1457C>T) c.*1337C>T (n.*1337C>T) c.814C>T (p.Leu272Phe) c.403C>T (p.Leu135Phe) c.343C>T (p.Leu115Phe) c.1027C>T (p.Leu343Phe) c.997C>T (p.Leu333Phe) c.871C>T (p.Leu291Phe) c.*329C>T (n.*329C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.27362650_27362652del | CA719576827 | IL4R | c.1298_1300del (p.Leu433del) c.1253_1255del (p.Leu418del) c.230-1453_230-1451del (n.230-1453_230-1451del) c.*1341_*1343del (n.*1341_*1343del) c.818_820del (p.Leu273del) c.407_409del (p.Leu136del) c.347_349del (p.Leu116del) c.1031_1033del (p.Leu344del) c.1001_1003del (p.Leu334del) c.875_877del (p.Leu292del) c.*333_*335del (n.*333_*335del) | dbSNP |
16 | g.27362647T>A | CA395298391 | IL4R | c.1295T>A (p.Leu432His) c.1250T>A (p.Leu417His) c.230-1456T>A (n.230-1456T>A) c.*1338T>A (n.*1338T>A) c.815T>A (p.Leu272His) c.404T>A (p.Leu135His) c.344T>A (p.Leu115His) c.1028T>A (p.Leu343His) c.998T>A (p.Leu333His) c.872T>A (p.Leu291His) c.*330T>A (n.*330T>A) | |
16 | g.27362647T>C | CA395298393 | IL4R | c.1295T>C (p.Leu432Pro) c.1250T>C (p.Leu417Pro) c.230-1456T>C (n.230-1456T>C) c.*1338T>C (n.*1338T>C) c.815T>C (p.Leu272Pro) c.404T>C (p.Leu135Pro) c.344T>C (p.Leu115Pro) c.1028T>C (p.Leu343Pro) c.998T>C (p.Leu333Pro) c.872T>C (p.Leu291Pro) c.*330T>C (n.*330T>C) | |
16 | g.27362647T>G | CA395298394 | IL4R | c.1295T>G (p.Leu432Arg) c.1250T>G (p.Leu417Arg) c.230-1456T>G (n.230-1456T>G) c.*1338T>G (n.*1338T>G) c.815T>G (p.Leu272Arg) c.404T>G (p.Leu135Arg) c.344T>G (p.Leu115Arg) c.1028T>G (p.Leu343Arg) c.998T>G (p.Leu333Arg) c.872T>G (p.Leu291Arg) c.*330T>G (n.*330T>G) | |
16 | g.27362648T>A | CA494470520 | IL4R | c.1296T>A (p.Leu432=) c.1251T>A (p.Leu417=) c.230-1455T>A (n.230-1455T>A) c.*1339T>A (n.*1339T>A) c.816T>A (p.Leu272=) c.405T>A (p.Leu135=) c.345T>A (p.Leu115=) c.1029T>A (p.Leu343=) c.999T>A (p.Leu333=) c.873T>A (p.Leu291=) c.*331T>A (n.*331T>A) | |
16 | g.27362648T>C | CA279686581 | IL4R | c.1296T>C (p.Leu432=) c.1251T>C (p.Leu417=) c.230-1455T>C (n.230-1455T>C) c.*1339T>C (n.*1339T>C) c.816T>C (p.Leu272=) c.405T>C (p.Leu135=) c.345T>C (p.Leu115=) c.1029T>C (p.Leu343=) c.999T>C (p.Leu333=) c.873T>C (p.Leu291=) c.*331T>C (n.*331T>C) | dbSNP |
16 | g.27362648T>G | CA494470519 | IL4R | c.1296T>G (p.Leu432=) c.1251T>G (p.Leu417=) c.230-1455T>G (n.230-1455T>G) c.*1339T>G (n.*1339T>G) c.816T>G (p.Leu272=) c.405T>G (p.Leu135=) c.345T>G (p.Leu115=) c.1029T>G (p.Leu343=) c.999T>G (p.Leu333=) c.873T>G (p.Leu291=) c.*331T>G (n.*331T>G) | |
16 | g.27362648T= | CA2215169578 | IL4R | c.1296T= (p.Leu432=) c.1251T= (p.Leu417=) c.230-1455T= (n.230-1455T=) c.*1339T= (n.*1339T=) c.816T= (p.Leu272=) c.405T= (p.Leu135=) c.345T= (p.Leu115=) c.1029T= (p.Leu343=) c.999T= (p.Leu333=) c.873T= (p.Leu291=) c.*331T= (n.*331T=) | |
16 | g.27362649C>A | CA395298402 | IL4R | c.1297C>A (p.Leu433Ile) c.1252C>A (p.Leu418Ile) c.230-1454C>A (n.230-1454C>A) c.*1340C>A (n.*1340C>A) c.817C>A (p.Leu273Ile) c.406C>A (p.Leu136Ile) c.346C>A (p.Leu116Ile) c.1030C>A (p.Leu344Ile) c.1000C>A (p.Leu334Ile) c.874C>A (p.Leu292Ile) c.*332C>A (n.*332C>A) | |
16 | g.27362649C>G | CA395298399 | IL4R | c.1297C>G (p.Leu433Val) c.1252C>G (p.Leu418Val) c.230-1454C>G (n.230-1454C>G) c.*1340C>G (n.*1340C>G) c.817C>G (p.Leu273Val) c.406C>G (p.Leu136Val) c.346C>G (p.Leu116Val) c.1030C>G (p.Leu344Val) c.1000C>G (p.Leu334Val) c.874C>G (p.Leu292Val) c.*332C>G (n.*332C>G) | |
16 | g.27362649C>T | CA395298397 | IL4R | c.1297C>T (p.Leu433Phe) c.1252C>T (p.Leu418Phe) c.230-1454C>T (n.230-1454C>T) c.*1340C>T (n.*1340C>T) c.817C>T (p.Leu273Phe) c.406C>T (p.Leu136Phe) c.346C>T (p.Leu116Phe) c.1030C>T (p.Leu344Phe) c.1000C>T (p.Leu334Phe) c.874C>T (p.Leu292Phe) c.*332C>T (n.*332C>T) | |
16 | g.27362650T>A | CA395298408 | IL4R | c.1298T>A (p.Leu433His) c.1253T>A (p.Leu418His) c.230-1453T>A (n.230-1453T>A) c.*1341T>A (n.*1341T>A) c.818T>A (p.Leu273His) c.407T>A (p.Leu136His) c.347T>A (p.Leu116His) c.1031T>A (p.Leu344His) c.1001T>A (p.Leu334His) c.875T>A (p.Leu292His) c.*333T>A (n.*333T>A) | |
16 | g.27362650T>C | CA279686587 | IL4R | c.1298T>C (p.Leu433Pro) c.1253T>C (p.Leu418Pro) c.230-1453T>C (n.230-1453T>C) c.*1341T>C (n.*1341T>C) c.818T>C (p.Leu273Pro) c.407T>C (p.Leu136Pro) c.347T>C (p.Leu116Pro) c.1031T>C (p.Leu344Pro) c.1001T>C (p.Leu334Pro) c.875T>C (p.Leu292Pro) c.*333T>C (n.*333T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362650T>G | CA395298407 | IL4R | c.1298T>G (p.Leu433Arg) c.1253T>G (p.Leu418Arg) c.230-1453T>G (n.230-1453T>G) c.*1341T>G (n.*1341T>G) c.818T>G (p.Leu273Arg) c.407T>G (p.Leu136Arg) c.347T>G (p.Leu116Arg) c.1031T>G (p.Leu344Arg) c.1001T>G (p.Leu334Arg) c.875T>G (p.Leu292Arg) c.*333T>G (n.*333T>G) | |
16 | g.27362650T= | CA2215169582 | IL4R | c.1298T= (p.Leu433=) c.1253T= (p.Leu418=) c.230-1453T= (n.230-1453T=) c.*1341T= (n.*1341T=) c.818T= (p.Leu273=) c.407T= (p.Leu136=) c.347T= (p.Leu116=) c.1031T= (p.Leu344=) c.1001T= (p.Leu334=) c.875T= (p.Leu292=) c.*333T= (n.*333T=) | |
16 | g.27362651T>A | CA494470521 | IL4R | c.1299T>A (p.Leu433=) c.1254T>A (p.Leu418=) c.230-1452T>A (n.230-1452T>A) c.*1342T>A (n.*1342T>A) c.819T>A (p.Leu273=) c.408T>A (p.Leu136=) c.348T>A (p.Leu116=) c.1032T>A (p.Leu344=) c.1002T>A (p.Leu334=) c.876T>A (p.Leu292=) c.*334T>A (n.*334T>A) | |
16 | g.27362651T>C | CA7974533 | IL4R | c.1299T>C (p.Leu433=) c.1254T>C (p.Leu418=) c.230-1452T>C (n.230-1452T>C) c.*1342T>C (n.*1342T>C) c.819T>C (p.Leu273=) c.408T>C (p.Leu136=) c.348T>C (p.Leu116=) c.1032T>C (p.Leu344=) c.1002T>C (p.Leu334=) c.876T>C (p.Leu292=) c.*334T>C (n.*334T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.27362651T>G | CA494470522 | IL4R | c.1299T>G (p.Leu433=) c.1254T>G (p.Leu418=) c.230-1452T>G (n.230-1452T>G) c.*1342T>G (n.*1342T>G) c.819T>G (p.Leu273=) c.408T>G (p.Leu136=) c.348T>G (p.Leu116=) c.1032T>G (p.Leu344=) c.1002T>G (p.Leu334=) c.876T>G (p.Leu292=) c.*334T>G (n.*334T>G) | |
16 | g.27362651T= | CA2215169588 | IL4R | c.1299T= (p.Leu433=) c.1254T= (p.Leu418=) c.230-1452T= (n.230-1452T=) c.*1342T= (n.*1342T=) c.819T= (p.Leu273=) c.408T= (p.Leu136=) c.348T= (p.Leu116=) c.1032T= (p.Leu344=) c.1002T= (p.Leu334=) c.876T= (p.Leu292=) c.*334T= (n.*334T=) | |
16 | g.27362652C>A | CA395298412 | IL4R | c.1300C>A (p.Pro434Thr) c.1255C>A (p.Pro419Thr) c.230-1451C>A (n.230-1451C>A) c.*1343C>A (n.*1343C>A) c.820C>A (p.Pro274Thr) c.409C>A (p.Pro137Thr) c.349C>A (p.Pro117Thr) c.1033C>A (p.Pro345Thr) c.1003C>A (p.Pro335Thr) c.877C>A (p.Pro293Thr) c.*335C>A (n.*335C>A) | |
16 | g.27362652C>G | CA395298414 | IL4R | c.1300C>G (p.Pro434Ala) c.1255C>G (p.Pro419Ala) c.230-1451C>G (n.230-1451C>G) c.*1343C>G (n.*1343C>G) c.820C>G (p.Pro274Ala) c.409C>G (p.Pro137Ala) c.349C>G (p.Pro117Ala) c.1033C>G (p.Pro345Ala) c.1003C>G (p.Pro335Ala) c.877C>G (p.Pro293Ala) c.*335C>G (n.*335C>G) | |
16 | g.27362652C>T | CA395298416 | IL4R | c.1300C>T (p.Pro434Ser) c.1255C>T (p.Pro419Ser) c.230-1451C>T (n.230-1451C>T) c.*1343C>T (n.*1343C>T) c.820C>T (p.Pro274Ser) c.409C>T (p.Pro137Ser) c.349C>T (p.Pro117Ser) c.1033C>T (p.Pro345Ser) c.1003C>T (p.Pro335Ser) c.877C>T (p.Pro293Ser) c.*335C>T (n.*335C>T) | gnomAD v4 |
16 | g.27362653C>A | CA395298417 | IL4R | c.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) | |
16 | g.27362653C>G | CA395298418 | IL4R | c.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) | |
16 | g.27362653C>T | CA395298419 | IL4R | c.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 |
16 | g.27362654A>C | CA494470523 | IL4R | c.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) | |
16 | g.27362654A>G | CA494470525 | IL4R | c.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 |
16 | g.27362654A>T | CA494470524 | IL4R | c.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) | |
16 | g.27362654_27362655delinsAC | CA2215169591 | IL4R | c.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) | |
16 | g.27362655C>A | CA395298420 | IL4R | c.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) | |
16 | g.27362655C= | CA2215169597 | IL4R | c.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=) | |
16 | g.27362655C>G | CA395298421 | IL4R | c.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) | |
16 | g.27362655C>T | CA7974534 | IL4R | c.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 |
16 | g.27362656del | CA494470526 | IL4R | c.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 |