Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.154465349_154465359dup | CA2648156788 | IL6R | c.1376_1386dup (p.Asp463SerfsTer?) c.*184_*194dup (n.*184_*194dup) c.*57_*67dup (n.*57_*67dup) c.*217_*227dup (n.*217_*227dup) c.1424_1434dup (p.Asp479SerfsTer?) c.1523_1533dup (p.Asp512SerfsTer?) c.1475_1485dup (p.Asp496SerfsTer?) c.1469_1479dup (p.Asp494SerfsTer?) c.1370_1380dup (p.Asp461SerfsTer?) c.1016_1026dup (p.Asp343SerfsTer?) | gnomAD v4 |
1 | g.154465349_154465351del | CA1129361 | IL6R | c.1376_1378del (p.Ile459del) c.*184_*186del (n.*184_*186del) c.*57_*59del (n.*57_*59del) c.*217_*219del (n.*217_*219del) c.1424_1426del (p.Ile475del) c.1523_1525del (p.Ile508del) c.1475_1477del (p.Ile492del) c.1469_1471del (p.Ile490del) c.1370_1372del (p.Ile457del) c.1016_1018del (p.Ile339del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154465351A>C | CA342628777 | IL6R | c.1378A>C (p.Ser460Arg) c.*186A>C (n.*186A>C) c.*59A>C (n.*59A>C) c.*219A>C (n.*219A>C) c.1426A>C (p.Ser476Arg) c.1525A>C (p.Ser509Arg) c.1477A>C (p.Ser493Arg) c.1471A>C (p.Ser491Arg) c.1372A>C (p.Ser458Arg) c.1018A>C (p.Ser340Arg) | |
1 | g.154465351A>G | CA342628779 | IL6R | c.1378A>G (p.Ser460Gly) c.*186A>G (n.*186A>G) c.*59A>G (n.*59A>G) c.*219A>G (n.*219A>G) c.1426A>G (p.Ser476Gly) c.1525A>G (p.Ser509Gly) c.1477A>G (p.Ser493Gly) c.1471A>G (p.Ser491Gly) c.1372A>G (p.Ser458Gly) c.1018A>G (p.Ser340Gly) | |
1 | g.154465351A>T | CA342628781 | IL6R | c.1378A>T (p.Ser460Cys) c.*186A>T (n.*186A>T) c.*59A>T (n.*59A>T) c.*219A>T (n.*219A>T) c.1426A>T (p.Ser476Cys) c.1525A>T (p.Ser509Cys) c.1477A>T (p.Ser493Cys) c.1471A>T (p.Ser491Cys) c.1372A>T (p.Ser458Cys) c.1018A>T (p.Ser340Cys) | |
1 | g.154465352G>A | CA342628786 | IL6R | c.1379G>A (p.Ser460Asn) c.*187G>A (n.*187G>A) c.*60G>A (n.*60G>A) c.*220G>A (n.*220G>A) c.1427G>A (p.Ser476Asn) c.1526G>A (p.Ser509Asn) c.1478G>A (p.Ser493Asn) c.1472G>A (p.Ser491Asn) c.1373G>A (p.Ser458Asn) c.1019G>A (p.Ser340Asn) | gnomAD v4 |
1 | g.154465352G>C | CA342628783 | IL6R | c.1379G>C (p.Ser460Thr) c.*187G>C (n.*187G>C) c.*60G>C (n.*60G>C) c.*220G>C (n.*220G>C) c.1427G>C (p.Ser476Thr) c.1526G>C (p.Ser509Thr) c.1478G>C (p.Ser493Thr) c.1472G>C (p.Ser491Thr) c.1373G>C (p.Ser458Thr) c.1019G>C (p.Ser340Thr) | |
1 | g.154465352G>T | CA342628784 | IL6R | c.1379G>T (p.Ser460Ile) c.*187G>T (n.*187G>T) c.*60G>T (n.*60G>T) c.*220G>T (n.*220G>T) c.1427G>T (p.Ser476Ile) c.1526G>T (p.Ser509Ile) c.1478G>T (p.Ser493Ile) c.1472G>T (p.Ser491Ile) c.1373G>T (p.Ser458Ile) c.1019G>T (p.Ser340Ile) | |
1 | g.154465353C>A | CA342628789 | IL6R | c.1380C>A (p.Ser460Arg) c.*188C>A (n.*188C>A) c.*61C>A (n.*61C>A) c.*221C>A (n.*221C>A) c.1428C>A (p.Ser476Arg) c.1527C>A (p.Ser509Arg) c.1479C>A (p.Ser493Arg) c.1473C>A (p.Ser491Arg) c.1374C>A (p.Ser458Arg) c.1020C>A (p.Ser340Arg) | |
1 | g.154465353C>G | CA342628790 | IL6R | c.1380C>G (p.Ser460Arg) c.*188C>G (n.*188C>G) c.*61C>G (n.*61C>G) c.*221C>G (n.*221C>G) c.1428C>G (p.Ser476Arg) c.1527C>G (p.Ser509Arg) c.1479C>G (p.Ser493Arg) c.1473C>G (p.Ser491Arg) c.1374C>G (p.Ser458Arg) c.1020C>G (p.Ser340Arg) | |
1 | g.154465353C>T | CA420976040 | IL6R | c.1380C>T (p.Ser460=) c.*188C>T (n.*188C>T) c.*61C>T (n.*61C>T) c.*221C>T (n.*221C>T) c.1428C>T (p.Ser476=) c.1527C>T (p.Ser509=) c.1479C>T (p.Ser493=) c.1473C>T (p.Ser491=) c.1374C>T (p.Ser458=) c.1020C>T (p.Ser340=) | |
1 | g.154465354A= | CA2480880342 | IL6R | c.1381A= (p.Asn461=) c.*189A= (n.*189A=) c.*62A= (n.*62A=) c.*222A= (n.*222A=) c.1429A= (p.Asn477=) c.1528A= (p.Asn510=) c.1480A= (p.Asn494=) c.1474A= (p.Asn492=) c.1375A= (p.Asn459=) c.1021A= (p.Asn341=) | |
1 | g.154465354A>C | CA342628791 | IL6R | c.1381A>C (p.Asn461His) c.*189A>C (n.*189A>C) c.*62A>C (n.*62A>C) c.*222A>C (n.*222A>C) c.1429A>C (p.Asn477His) c.1528A>C (p.Asn510His) c.1480A>C (p.Asn494His) c.1474A>C (p.Asn492His) c.1375A>C (p.Asn459His) c.1021A>C (p.Asn341His) | |
1 | g.154465354A>G | CA1129363 | IL6R | c.1381A>G (p.Asn461Asp) c.*189A>G (n.*189A>G) c.*62A>G (n.*62A>G) c.*222A>G (n.*222A>G) c.1429A>G (p.Asn477Asp) c.1528A>G (p.Asn510Asp) c.1480A>G (p.Asn494Asp) c.1474A>G (p.Asn492Asp) c.1375A>G (p.Asn459Asp) c.1021A>G (p.Asn341Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154465354A>T | CA342628794 | IL6R | c.1381A>T (p.Asn461Tyr) c.*189A>T (n.*189A>T) c.*62A>T (n.*62A>T) c.*222A>T (n.*222A>T) c.1429A>T (p.Asn477Tyr) c.1528A>T (p.Asn510Tyr) c.1480A>T (p.Asn494Tyr) c.1474A>T (p.Asn492Tyr) c.1375A>T (p.Asn459Tyr) c.1021A>T (p.Asn341Tyr) | |
1 | g.154465355A= | CA2480880343 | IL6R | c.1382A= (p.Asn461=) c.*190A= (n.*190A=) c.*63A= (n.*63A=) c.*223A= (n.*223A=) c.1430A= (p.Asn477=) c.1529A= (p.Asn510=) c.1481A= (p.Asn494=) c.1475A= (p.Asn492=) c.1376A= (p.Asn459=) c.1022A= (p.Asn341=) | |
1 | g.154465355A>C | CA342628796 | IL6R | c.1382A>C (p.Asn461Thr) c.*190A>C (n.*190A>C) c.*63A>C (n.*63A>C) c.*223A>C (n.*223A>C) c.1430A>C (p.Asn477Thr) c.1529A>C (p.Asn510Thr) c.1481A>C (p.Asn494Thr) c.1475A>C (p.Asn492Thr) c.1376A>C (p.Asn459Thr) c.1022A>C (p.Asn341Thr) | |
1 | g.154465355A>G | CA342628798 | IL6R | c.1382A>G (p.Asn461Ser) c.*190A>G (n.*190A>G) c.*63A>G (n.*63A>G) c.*223A>G (n.*223A>G) c.1430A>G (p.Asn477Ser) c.1529A>G (p.Asn510Ser) c.1481A>G (p.Asn494Ser) c.1475A>G (p.Asn492Ser) c.1376A>G (p.Asn459Ser) c.1022A>G (p.Asn341Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154465355A>T | CA342628800 | IL6R | c.1382A>T (p.Asn461Ile) c.*190A>T (n.*190A>T) c.*63A>T (n.*63A>T) c.*223A>T (n.*223A>T) c.1430A>T (p.Asn477Ile) c.1529A>T (p.Asn510Ile) c.1481A>T (p.Asn494Ile) c.1475A>T (p.Asn492Ile) c.1376A>T (p.Asn459Ile) c.1022A>T (p.Asn341Ile) | |
1 | g.154465356T>A | CA342628801 | IL6R | c.1383T>A (p.Asn461Lys) c.*191T>A (n.*191T>A) c.*64T>A (n.*64T>A) c.*224T>A (n.*224T>A) c.1431T>A (p.Asn477Lys) c.1530T>A (p.Asn510Lys) c.1482T>A (p.Asn494Lys) c.1476T>A (p.Asn492Lys) c.1377T>A (p.Asn459Lys) c.1023T>A (p.Asn341Lys) | |
1 | g.154465356T>C | CA420976041 | IL6R | c.1383T>C (p.Asn461=) c.*191T>C (n.*191T>C) c.*64T>C (n.*64T>C) c.*224T>C (n.*224T>C) c.1431T>C (p.Asn477=) c.1530T>C (p.Asn510=) c.1482T>C (p.Asn494=) c.1476T>C (p.Asn492=) c.1377T>C (p.Asn459=) c.1023T>C (p.Asn341=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465356T>G | CA342628802 | IL6R | c.1383T>G (p.Asn461Lys) c.*191T>G (n.*191T>G) c.*64T>G (n.*64T>G) c.*224T>G (n.*224T>G) c.1431T>G (p.Asn477Lys) c.1530T>G (p.Asn510Lys) c.1482T>G (p.Asn494Lys) c.1476T>G (p.Asn492Lys) c.1377T>G (p.Asn459Lys) c.1023T>G (p.Asn341Lys) | |
1 | g.154465356T= | CA2480880344 | IL6R | c.1383T= (p.Asn461=) c.*191T= (n.*191T=) c.*64T= (n.*64T=) c.*224T= (n.*224T=) c.1431T= (p.Asn477=) c.1530T= (p.Asn510=) c.1482T= (p.Asn494=) c.1476T= (p.Asn492=) c.1377T= (p.Asn459=) c.1023T= (p.Asn341=) | |
1 | g.154465357A>C | CA342628804 | IL6R | c.1384A>C (p.Thr462Pro) c.*192A>C (n.*192A>C) c.*65A>C (n.*65A>C) c.*225A>C (n.*225A>C) c.1432A>C (p.Thr478Pro) c.1531A>C (p.Thr511Pro) c.1483A>C (p.Thr495Pro) c.1477A>C (p.Thr493Pro) c.1378A>C (p.Thr460Pro) c.1024A>C (p.Thr342Pro) | |
1 | g.154465357A>G | CA342628805 | IL6R | c.1384A>G (p.Thr462Ala) c.*192A>G (n.*192A>G) c.*65A>G (n.*65A>G) c.*225A>G (n.*225A>G) c.1432A>G (p.Thr478Ala) c.1531A>G (p.Thr511Ala) c.1483A>G (p.Thr495Ala) c.1477A>G (p.Thr493Ala) c.1378A>G (p.Thr460Ala) c.1024A>G (p.Thr342Ala) | |
1 | g.154465357A>T | CA342628807 | IL6R | c.1384A>T (p.Thr462Ser) c.*192A>T (n.*192A>T) c.*65A>T (n.*65A>T) c.*225A>T (n.*225A>T) c.1432A>T (p.Thr478Ser) c.1531A>T (p.Thr511Ser) c.1483A>T (p.Thr495Ser) c.1477A>T (p.Thr493Ser) c.1378A>T (p.Thr460Ser) c.1024A>T (p.Thr342Ser) | |
1 | g.154465358C>A | CA342628809 | IL6R | c.1385C>A (p.Thr462Lys) c.*193C>A (n.*193C>A) c.*66C>A (n.*66C>A) c.*226C>A (n.*226C>A) c.1433C>A (p.Thr478Lys) c.1532C>A (p.Thr511Lys) c.1484C>A (p.Thr495Lys) c.1478C>A (p.Thr493Lys) c.1379C>A (p.Thr460Lys) c.1025C>A (p.Thr342Lys) | |
1 | g.154465358C>G | CA342628812 | IL6R | c.1385C>G (p.Thr462Arg) c.*193C>G (n.*193C>G) c.*66C>G (n.*66C>G) c.*226C>G (n.*226C>G) c.1433C>G (p.Thr478Arg) c.1532C>G (p.Thr511Arg) c.1484C>G (p.Thr495Arg) c.1478C>G (p.Thr493Arg) c.1379C>G (p.Thr460Arg) c.1025C>G (p.Thr342Arg) | |
1 | g.154465358C>T | CA342628811 | IL6R | c.1385C>T (p.Thr462Ile) c.*193C>T (n.*193C>T) c.*66C>T (n.*66C>T) c.*226C>T (n.*226C>T) c.1433C>T (p.Thr478Ile) c.1532C>T (p.Thr511Ile) c.1484C>T (p.Thr495Ile) c.1478C>T (p.Thr493Ile) c.1379C>T (p.Thr460Ile) c.1025C>T (p.Thr342Ile) | gnomAD v4 |
1 | g.154465359A>C | CA420976044 | IL6R | c.1386A>C (p.Thr462=) c.*194A>C (n.*194A>C) c.*67A>C (n.*67A>C) c.*227A>C (n.*227A>C) c.1434A>C (p.Thr478=) c.1533A>C (p.Thr511=) c.1485A>C (p.Thr495=) c.1479A>C (p.Thr493=) c.1380A>C (p.Thr460=) c.1026A>C (p.Thr342=) | |
1 | g.154465359A>G | CA420976043 | IL6R | c.1386A>G (p.Thr462=) c.*194A>G (n.*194A>G) c.*67A>G (n.*67A>G) c.*227A>G (n.*227A>G) c.1434A>G (p.Thr478=) c.1533A>G (p.Thr511=) c.1485A>G (p.Thr495=) c.1479A>G (p.Thr493=) c.1380A>G (p.Thr460=) c.1026A>G (p.Thr342=) | |
1 | g.154465359A>T | CA420976042 | IL6R | c.1386A>T (p.Thr462=) c.*194A>T (n.*194A>T) c.*67A>T (n.*67A>T) c.*227A>T (n.*227A>T) c.1434A>T (p.Thr478=) c.1533A>T (p.Thr511=) c.1485A>T (p.Thr495=) c.1479A>T (p.Thr493=) c.1380A>T (p.Thr460=) c.1026A>T (p.Thr342=) | gnomAD v4 |
1 | g.154465360G>A | CA342628814 | IL6R | c.1387G>A (p.Asp463Asn) c.*195G>A (n.*195G>A) c.*68G>A (n.*68G>A) c.*228G>A (n.*228G>A) c.1435G>A (p.Asp479Asn) c.1534G>A (p.Asp512Asn) c.1486G>A (p.Asp496Asn) c.1480G>A (p.Asp494Asn) c.1381G>A (p.Asp461Asn) c.1027G>A (p.Asp343Asn) | |
1 | g.154465360G>C | CA342628816 | IL6R | c.1387G>C (p.Asp463His) c.*195G>C (n.*195G>C) c.*68G>C (n.*68G>C) c.*228G>C (n.*228G>C) c.1435G>C (p.Asp479His) c.1534G>C (p.Asp512His) c.1486G>C (p.Asp496His) c.1480G>C (p.Asp494His) c.1381G>C (p.Asp461His) c.1027G>C (p.Asp343His) | |
1 | g.154465360G= | CA2480880346 | IL6R | c.1387G= (p.Asp463=) c.*195G= (n.*195G=) c.*68G= (n.*68G=) c.*228G= (n.*228G=) c.1435G= (p.Asp479=) c.1534G= (p.Asp512=) c.1486G= (p.Asp496=) c.1480G= (p.Asp494=) c.1381G= (p.Asp461=) c.1027G= (p.Asp343=) | |
1 | g.154465360G>T | CA342628818 | IL6R | c.1387G>T (p.Asp463Tyr) c.*195G>T (n.*195G>T) c.*68G>T (n.*68G>T) c.*228G>T (n.*228G>T) c.1435G>T (p.Asp479Tyr) c.1534G>T (p.Asp512Tyr) c.1486G>T (p.Asp496Tyr) c.1480G>T (p.Asp494Tyr) c.1381G>T (p.Asp461Tyr) c.1027G>T (p.Asp343Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154465360_154465361delinsGA | CA2480880345 | IL6R | c.1387_1388delinsGA (p.Asp463=) c.*195_*196delinsGA (n.*195_*196delinsGA) c.*68_*69delinsGA (n.*68_*69delinsGA) c.*228_*229delinsGA (n.*228_*229delinsGA) c.1435_1436delinsGA (p.Asp479=) c.1534_1535delinsGA (p.Asp512=) c.1486_1487delinsGA (p.Asp496=) c.1480_1481delinsGA (p.Asp494=) c.1381_1382delinsGA (p.Asp461=) c.1027_1028delinsGA (p.Asp343=) | |
1 | g.154465361del | CA30816650 | IL6R | c.1388del (p.Asp463AlafsTer?) c.*196del (n.*196del) c.*69del (n.*69del) c.*229del (n.*229del) c.1436del (p.Asp479AlafsTer?) c.1535del (p.Asp512AlafsTer?) c.1487del (p.Asp496AlafsTer?) c.1481del (p.Asp494AlafsTer?) c.1382del (p.Asp461AlafsTer?) c.1028del (p.Asp343AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154465361A= | CA2480880347 | IL6R | c.1388A= (p.Asp463=) c.*196A= (n.*196A=) c.*69A= (n.*69A=) c.*229A= (n.*229A=) c.1436A= (p.Asp479=) c.1535A= (p.Asp512=) c.1487A= (p.Asp496=) c.1481A= (p.Asp494=) c.1382A= (p.Asp461=) c.1028A= (p.Asp343=) | |
1 | g.154465361A>C | CA342628820 | IL6R | c.1388A>C (p.Asp463Ala) c.*196A>C (n.*196A>C) c.*69A>C (n.*69A>C) c.*229A>C (n.*229A>C) c.1436A>C (p.Asp479Ala) c.1535A>C (p.Asp512Ala) c.1487A>C (p.Asp496Ala) c.1481A>C (p.Asp494Ala) c.1382A>C (p.Asp461Ala) c.1028A>C (p.Asp343Ala) | |
1 | g.154465361A>G | CA1129364 | IL6R | c.1388A>G (p.Asp463Gly) c.*196A>G (n.*196A>G) c.*69A>G (n.*69A>G) c.*229A>G (n.*229A>G) c.1436A>G (p.Asp479Gly) c.1535A>G (p.Asp512Gly) c.1487A>G (p.Asp496Gly) c.1481A>G (p.Asp494Gly) c.1382A>G (p.Asp461Gly) c.1028A>G (p.Asp343Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465361A>T | CA342628823 | IL6R | c.1388A>T (p.Asp463Val) c.*196A>T (n.*196A>T) c.*69A>T (n.*69A>T) c.*229A>T (n.*229A>T) c.1436A>T (p.Asp479Val) c.1535A>T (p.Asp512Val) c.1487A>T (p.Asp496Val) c.1481A>T (p.Asp494Val) c.1382A>T (p.Asp461Val) c.1028A>T (p.Asp343Val) | |
1 | g.154465364_154465366del | CA2648156789 | IL6R | c.1391_1393del (p.Tyr464del) c.*199_*201del (n.*199_*201del) c.*72_*74del (n.*72_*74del) c.*232_*234del (n.*232_*234del) c.1439_1441del (p.Tyr480del) c.1538_1540del (p.Tyr513del) c.1490_1492del (p.Tyr497del) c.1484_1486del (p.Tyr495del) c.1385_1387del (p.Tyr462del) c.1031_1033del (p.Tyr344del) | gnomAD v4 |
1 | g.154465362C>A | CA342628827 | IL6R | c.1389C>A (p.Asp463Glu) c.*197C>A (n.*197C>A) c.*70C>A (n.*70C>A) c.*230C>A (n.*230C>A) c.1437C>A (p.Asp479Glu) c.1536C>A (p.Asp512Glu) c.1488C>A (p.Asp496Glu) c.1482C>A (p.Asp494Glu) c.1383C>A (p.Asp461Glu) c.1029C>A (p.Asp343Glu) | |
1 | g.154465362C= | CA2480880348 | IL6R | c.1389C= (p.Asp463=) c.*197C= (n.*197C=) c.*70C= (n.*70C=) c.*230C= (n.*230C=) c.1437C= (p.Asp479=) c.1536C= (p.Asp512=) c.1488C= (p.Asp496=) c.1482C= (p.Asp494=) c.1383C= (p.Asp461=) c.1029C= (p.Asp343=) | |
1 | g.154465362C>G | CA342628825 | IL6R | c.1389C>G (p.Asp463Glu) c.*197C>G (n.*197C>G) c.*70C>G (n.*70C>G) c.*230C>G (n.*230C>G) c.1437C>G (p.Asp479Glu) c.1536C>G (p.Asp512Glu) c.1488C>G (p.Asp496Glu) c.1482C>G (p.Asp494Glu) c.1383C>G (p.Asp461Glu) c.1029C>G (p.Asp343Glu) | |
1 | g.154465362C>T | CA420976045 | IL6R | c.1389C>T (p.Asp463=) c.*197C>T (n.*197C>T) c.*70C>T (n.*70C>T) c.*230C>T (n.*230C>T) c.1437C>T (p.Asp479=) c.1536C>T (p.Asp512=) c.1488C>T (p.Asp496=) c.1482C>T (p.Asp494=) c.1383C>T (p.Asp461=) c.1029C>T (p.Asp343=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.154465363T>A | CA342628830 | IL6R | c.1390T>A (p.Tyr464Asn) c.*198T>A (n.*198T>A) c.*71T>A (n.*71T>A) c.*231T>A (n.*231T>A) c.1438T>A (p.Tyr480Asn) c.1537T>A (p.Tyr513Asn) c.1489T>A (p.Tyr497Asn) c.1483T>A (p.Tyr495Asn) c.1384T>A (p.Tyr462Asn) c.1030T>A (p.Tyr344Asn) | |
1 | g.154465363T>C | CA342628831 | IL6R | c.1390T>C (p.Tyr464His) c.*198T>C (n.*198T>C) c.*71T>C (n.*71T>C) c.*231T>C (n.*231T>C) c.1438T>C (p.Tyr480His) c.1537T>C (p.Tyr513His) c.1489T>C (p.Tyr497His) c.1483T>C (p.Tyr495His) c.1384T>C (p.Tyr462His) c.1030T>C (p.Tyr344His) | |
1 | g.154465363T>G | CA342628833 | IL6R | c.1390T>G (p.Tyr464Asp) c.*198T>G (n.*198T>G) c.*71T>G (n.*71T>G) c.*231T>G (n.*231T>G) c.1438T>G (p.Tyr480Asp) c.1537T>G (p.Tyr513Asp) c.1489T>G (p.Tyr497Asp) c.1483T>G (p.Tyr495Asp) c.1384T>G (p.Tyr462Asp) c.1030T>G (p.Tyr344Asp) |