| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.154465308C>A | CA342628673 | IL6R | c.1335C>A (p.His445Gln) c.*143C>A (n.*143C>A) n.533C>A c.*16C>A (n.*16C>A) c.*176C>A (n.*176C>A) c.1383C>A (p.His461Gln) c.1482C>A (p.His494Gln) c.1434C>A (p.His478Gln) c.1428C>A (p.His476Gln) c.1329C>A (p.His443Gln) c.975C>A (p.His325Gln) | |
| 1 | g.154465308C>G | CA342628674 | IL6R | c.1335C>G (p.His445Gln) c.*143C>G (n.*143C>G) n.533C>G c.*16C>G (n.*16C>G) c.*176C>G (n.*176C>G) c.1383C>G (p.His461Gln) c.1482C>G (p.His494Gln) c.1434C>G (p.His478Gln) c.1428C>G (p.His476Gln) c.1329C>G (p.His443Gln) c.975C>G (p.His325Gln) | |
| 1 | g.154465308C>T | CA420976010 | IL6R | c.1335C>T (p.His445=) c.*143C>T (n.*143C>T) n.533C>T c.*16C>T (n.*16C>T) c.*176C>T (n.*176C>T) c.1383C>T (p.His461=) c.1482C>T (p.His494=) c.1434C>T (p.His478=) c.1428C>T (p.His476=) c.1329C>T (p.His443=) c.975C>T (p.His325=) | |
| 1 | g.154465309A= | CA2480880325 | IL6R | c.1336A= (p.Asn446=) c.*144A= (n.*144A=) n.534A= c.*17A= (n.*17A=) c.*177A= (n.*177A=) c.1384A= (p.Asn462=) c.1483A= (p.Asn495=) c.1435A= (p.Asn479=) c.1429A= (p.Asn477=) c.1330A= (p.Asn444=) c.976A= (p.Asn326=) | |
| 1 | g.154465309A>C | CA342628675 | IL6R | c.1336A>C (p.Asn446His) c.*144A>C (n.*144A>C) n.534A>C c.*17A>C (n.*17A>C) c.*177A>C (n.*177A>C) c.1384A>C (p.Asn462His) c.1483A>C (p.Asn495His) c.1435A>C (p.Asn479His) c.1429A>C (p.Asn477His) c.1330A>C (p.Asn444His) c.976A>C (p.Asn326His) | COSMIC |
| 1 | g.154465309A>G | CA342628676 | IL6R | c.1336A>G (p.Asn446Asp) c.*144A>G (n.*144A>G) n.534A>G c.*17A>G (n.*17A>G) c.*177A>G (n.*177A>G) c.1384A>G (p.Asn462Asp) c.1483A>G (p.Asn495Asp) c.1435A>G (p.Asn479Asp) c.1429A>G (p.Asn477Asp) c.1330A>G (p.Asn444Asp) c.976A>G (p.Asn326Asp) | |
| 1 | g.154465309A>T | CA342628677 | IL6R | c.1336A>T (p.Asn446Tyr) c.*144A>T (n.*144A>T) n.534A>T c.*17A>T (n.*17A>T) c.*177A>T (n.*177A>T) c.1384A>T (p.Asn462Tyr) c.1483A>T (p.Asn495Tyr) c.1435A>T (p.Asn479Tyr) c.1429A>T (p.Asn477Tyr) c.1330A>T (p.Asn444Tyr) c.976A>T (p.Asn326Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.154465310del | CA2648156787 | IL6R | c.1337del (p.Asn446ThrfsTer?) c.*145del (n.*145del) n.535del c.*18del (n.*18del) c.*178del (n.*178del) c.1385del (p.Asn462ThrfsTer?) c.1484del (p.Asn495ThrfsTer?) c.1436del (p.Asn479ThrfsTer?) c.1430del (p.Asn477ThrfsTer?) c.1331del (p.Asn444ThrfsTer?) c.977del (p.Asn326ThrfsTer?) | gnomAD v4 |
| 1 | g.154465310A>C | CA342628678 | IL6R | c.1337A>C (p.Asn446Thr) c.*145A>C (n.*145A>C) n.535A>C c.*18A>C (n.*18A>C) c.*178A>C (n.*178A>C) c.1385A>C (p.Asn462Thr) c.1484A>C (p.Asn495Thr) c.1436A>C (p.Asn479Thr) c.1430A>C (p.Asn477Thr) c.1331A>C (p.Asn444Thr) c.977A>C (p.Asn326Thr) | |
| 1 | g.154465310A>G | CA342628679 | IL6R | c.1337A>G (p.Asn446Ser) c.*145A>G (n.*145A>G) n.535A>G c.*18A>G (n.*18A>G) c.*178A>G (n.*178A>G) c.1385A>G (p.Asn462Ser) c.1484A>G (p.Asn495Ser) c.1436A>G (p.Asn479Ser) c.1430A>G (p.Asn477Ser) c.1331A>G (p.Asn444Ser) c.977A>G (p.Asn326Ser) | COSMIC |
| 1 | g.154465310A>T | CA342628680 | IL6R | c.1337A>T (p.Asn446Ile) c.*145A>T (n.*145A>T) n.535A>T c.*18A>T (n.*18A>T) c.*178A>T (n.*178A>T) c.1385A>T (p.Asn462Ile) c.1484A>T (p.Asn495Ile) c.1436A>T (p.Asn479Ile) c.1430A>T (p.Asn477Ile) c.1331A>T (p.Asn444Ile) c.977A>T (p.Asn326Ile) | |
| 1 | g.154465311C>A | CA342628681 | IL6R | c.1338C>A (p.Asn446Lys) c.*146C>A (n.*146C>A) n.536C>A c.*19C>A (n.*19C>A) c.*179C>A (n.*179C>A) c.1386C>A (p.Asn462Lys) c.1485C>A (p.Asn495Lys) c.1437C>A (p.Asn479Lys) c.1431C>A (p.Asn477Lys) c.1332C>A (p.Asn444Lys) c.978C>A (p.Asn326Lys) | |
| 1 | g.154465311C>G | CA342628682 | IL6R | c.1338C>G (p.Asn446Lys) c.*146C>G (n.*146C>G) n.536C>G c.*19C>G (n.*19C>G) c.*179C>G (n.*179C>G) c.1386C>G (p.Asn462Lys) c.1485C>G (p.Asn495Lys) c.1437C>G (p.Asn479Lys) c.1431C>G (p.Asn477Lys) c.1332C>G (p.Asn444Lys) c.978C>G (p.Asn326Lys) | |
| 1 | g.154465311C>T | CA420976011 | IL6R | c.1338C>T (p.Asn446=) c.*146C>T (n.*146C>T) n.536C>T c.*19C>T (n.*19C>T) c.*179C>T (n.*179C>T) c.1386C>T (p.Asn462=) c.1485C>T (p.Asn495=) c.1437C>T (p.Asn479=) c.1431C>T (p.Asn477=) c.1332C>T (p.Asn444=) c.978C>T (p.Asn326=) | |
| 1 | g.154465312C>A | CA420976012 | IL6R | c.1339C>A (p.Arg447=) c.*147C>A (n.*147C>A) n.537C>A c.*20C>A (n.*20C>A) c.*180C>A (n.*180C>A) c.1387C>A (p.Arg463=) c.1486C>A (p.Arg496=) c.1438C>A (p.Arg480=) c.1432C>A (p.Arg478=) c.1333C>A (p.Arg445=) c.979C>A (p.Arg327=) | |
| 1 | g.154465312C= | CA2480880326 | IL6R | c.1339C= (p.Arg447=) c.*147C= (n.*147C=) n.537C= c.*20C= (n.*20C=) c.*180C= (n.*180C=) c.1387C= (p.Arg463=) c.1486C= (p.Arg496=) c.1438C= (p.Arg480=) c.1432C= (p.Arg478=) c.1333C= (p.Arg445=) c.979C= (p.Arg327=) | |
| 1 | g.154465312C>G | CA342628683 | IL6R | c.1339C>G (p.Arg447Gly) c.*147C>G (n.*147C>G) n.537C>G c.*20C>G (n.*20C>G) c.*180C>G (n.*180C>G) c.1387C>G (p.Arg463Gly) c.1486C>G (p.Arg496Gly) c.1438C>G (p.Arg480Gly) c.1432C>G (p.Arg478Gly) c.1333C>G (p.Arg445Gly) c.979C>G (p.Arg327Gly) | |
| 1 | g.154465312C>T | CA1129353 | IL6R | c.1339C>T (p.Arg447Ter) c.*147C>T (n.*147C>T) n.537C>T c.*20C>T (n.*20C>T) c.*180C>T (n.*180C>T) c.1387C>T (p.Arg463Ter) c.1486C>T (p.Arg496Ter) c.1438C>T (p.Arg480Ter) c.1432C>T (p.Arg478Ter) c.1333C>T (p.Arg445Ter) c.979C>T (p.Arg327Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.154465313G>A | CA1129354 | IL6R | c.1340G>A (p.Arg447Gln) c.*148G>A (n.*148G>A) n.538G>A c.*21G>A (n.*21G>A) c.*181G>A (n.*181G>A) c.1388G>A (p.Arg463Gln) c.1487G>A (p.Arg496Gln) c.1439G>A (p.Arg480Gln) c.1433G>A (p.Arg478Gln) c.1334G>A (p.Arg445Gln) c.980G>A (p.Arg327Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465313G>C | CA342628684 | IL6R | c.1340G>C (p.Arg447Pro) c.*148G>C (n.*148G>C) n.538G>C c.*21G>C (n.*21G>C) c.*181G>C (n.*181G>C) c.1388G>C (p.Arg463Pro) c.1487G>C (p.Arg496Pro) c.1439G>C (p.Arg480Pro) c.1433G>C (p.Arg478Pro) c.1334G>C (p.Arg445Pro) c.980G>C (p.Arg327Pro) | |
| 1 | g.154465313G= | CA2480880327 | IL6R | c.1340G= (p.Arg447=) c.*148G= (n.*148G=) n.538G= c.*21G= (n.*21G=) c.*181G= (n.*181G=) c.1388G= (p.Arg463=) c.1487G= (p.Arg496=) c.1439G= (p.Arg480=) c.1433G= (p.Arg478=) c.1334G= (p.Arg445=) c.980G= (p.Arg327=) | |
| 1 | g.154465313G>T | CA342628685 | IL6R | c.1340G>T (p.Arg447Leu) c.*148G>T (n.*148G>T) n.538G>T c.*21G>T (n.*21G>T) c.*181G>T (n.*181G>T) c.1388G>T (p.Arg463Leu) c.1487G>T (p.Arg496Leu) c.1439G>T (p.Arg480Leu) c.1433G>T (p.Arg478Leu) c.1334G>T (p.Arg445Leu) c.980G>T (p.Arg327Leu) | gnomAD v4 |
| 1 | g.154465314A= | CA2480880328 | IL6R | c.1341A= (p.Arg447=) c.*149A= (n.*149A=) n.539A= c.*22A= (n.*22A=) c.*182A= (n.*182A=) c.1389A= (p.Arg463=) c.1488A= (p.Arg496=) c.1440A= (p.Arg480=) c.1434A= (p.Arg478=) c.1335A= (p.Arg445=) c.981A= (p.Arg327=) | |
| 1 | g.154465314A>C | CA420976014 | IL6R | c.1341A>C (p.Arg447=) c.*149A>C (n.*149A>C) n.539A>C c.*22A>C (n.*22A>C) c.*182A>C (n.*182A>C) c.1389A>C (p.Arg463=) c.1488A>C (p.Arg496=) c.1440A>C (p.Arg480=) c.1434A>C (p.Arg478=) c.1335A>C (p.Arg445=) c.981A>C (p.Arg327=) | gnomAD v4 |
| 1 | g.154465314A>G | CA1129355 | IL6R | c.1341A>G (p.Arg447=) c.*149A>G (n.*149A>G) n.539A>G c.*22A>G (n.*22A>G) c.*182A>G (n.*182A>G) c.1389A>G (p.Arg463=) c.1488A>G (p.Arg496=) c.1440A>G (p.Arg480=) c.1434A>G (p.Arg478=) c.1335A>G (p.Arg445=) c.981A>G (p.Arg327=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.154465314A>T | CA420976015 | IL6R | c.1341A>T (p.Arg447=) c.*149A>T (n.*149A>T) n.539A>T c.*22A>T (n.*22A>T) c.*182A>T (n.*182A>T) c.1389A>T (p.Arg463=) c.1488A>T (p.Arg496=) c.1440A>T (p.Arg480=) c.1434A>T (p.Arg478=) c.1335A>T (p.Arg445=) c.981A>T (p.Arg327=) | |
| 1 | g.154465315C>A | CA342628686 | IL6R | c.1342C>A (p.Pro448Thr) c.*150C>A (n.*150C>A) c.*23C>A (n.*23C>A) c.*183C>A (n.*183C>A) c.1390C>A (p.Pro464Thr) c.1489C>A (p.Pro497Thr) c.1441C>A (p.Pro481Thr) c.1435C>A (p.Pro479Thr) c.1336C>A (p.Pro446Thr) c.982C>A (p.Pro328Thr) | gnomAD v4 |
| 1 | g.154465315C>G | CA342628687 | IL6R | c.1342C>G (p.Pro448Ala) c.*150C>G (n.*150C>G) c.*23C>G (n.*23C>G) c.*183C>G (n.*183C>G) c.1390C>G (p.Pro464Ala) c.1489C>G (p.Pro497Ala) c.1441C>G (p.Pro481Ala) c.1435C>G (p.Pro479Ala) c.1336C>G (p.Pro446Ala) c.982C>G (p.Pro328Ala) | |
| 1 | g.154465315C>T | CA342628688 | IL6R | c.1342C>T (p.Pro448Ser) c.*150C>T (n.*150C>T) c.*23C>T (n.*23C>T) c.*183C>T (n.*183C>T) c.1390C>T (p.Pro464Ser) c.1489C>T (p.Pro497Ser) c.1441C>T (p.Pro481Ser) c.1435C>T (p.Pro479Ser) c.1336C>T (p.Pro446Ser) c.982C>T (p.Pro328Ser) | |
| 1 | g.154465316C>A | CA342628689 | IL6R | c.1343C>A (p.Pro448Gln) c.*151C>A (n.*151C>A) c.*24C>A (n.*24C>A) c.*184C>A (n.*184C>A) c.1391C>A (p.Pro464Gln) c.1490C>A (p.Pro497Gln) c.1442C>A (p.Pro481Gln) c.1436C>A (p.Pro479Gln) c.1337C>A (p.Pro446Gln) c.983C>A (p.Pro328Gln) | |
| 1 | g.154465316C= | CA2480880329 | IL6R | c.1343C= (p.Pro448=) c.*151C= (n.*151C=) c.*24C= (n.*24C=) c.*184C= (n.*184C=) c.1391C= (p.Pro464=) c.1490C= (p.Pro497=) c.1442C= (p.Pro481=) c.1436C= (p.Pro479=) c.1337C= (p.Pro446=) c.983C= (p.Pro328=) | |
| 1 | g.154465316C>G | CA342628690 | IL6R | c.1343C>G (p.Pro448Arg) c.*151C>G (n.*151C>G) c.*24C>G (n.*24C>G) c.*184C>G (n.*184C>G) c.1391C>G (p.Pro464Arg) c.1490C>G (p.Pro497Arg) c.1442C>G (p.Pro481Arg) c.1436C>G (p.Pro479Arg) c.1337C>G (p.Pro446Arg) c.983C>G (p.Pro328Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.154465316C>T | CA342628691 | IL6R | c.1343C>T (p.Pro448Leu) c.*151C>T (n.*151C>T) c.*24C>T (n.*24C>T) c.*184C>T (n.*184C>T) c.1391C>T (p.Pro464Leu) c.1490C>T (p.Pro497Leu) c.1442C>T (p.Pro481Leu) c.1436C>T (p.Pro479Leu) c.1337C>T (p.Pro446Leu) c.983C>T (p.Pro328Leu) | gnomAD v4 |
| 1 | g.154465316_154465317delinsCA | CA2480880330 | IL6R | c.1343_1344delinsCA (p.Pro448=) c.*151_*152delinsCA (n.*151_*152delinsCA) c.*24_*25delinsCA (n.*24_*25delinsCA) c.*184_*185delinsCA (n.*184_*185delinsCA) c.1391_1392delinsCA (p.Pro464=) c.1490_1491delinsCA (p.Pro497=) c.1442_1443delinsCA (p.Pro481=) c.1436_1437delinsCA (p.Pro479=) c.1337_1338delinsCA (p.Pro446=) c.983_984delinsCA (p.Pro328=) | |
| 1 | g.154465317del | CA2480880331 | IL6R | c.1344del (p.Asp449MetfsTer?) c.*152del (n.*152del) c.*25del (n.*25del) c.*185del (n.*185del) c.1392del (p.Asp465MetfsTer?) c.1491del (p.Asp498MetfsTer?) c.1443del (p.Asp482MetfsTer?) c.1437del (p.Asp480MetfsTer?) c.1338del (p.Asp447MetfsTer?) c.984del (p.Asp329MetfsTer?) | dbSNP |
| 1 | g.154465317A>C | CA420976019 | IL6R | c.1344A>C (p.Pro448=) c.*152A>C (n.*152A>C) c.*25A>C (n.*25A>C) c.*185A>C (n.*185A>C) c.1392A>C (p.Pro464=) c.1491A>C (p.Pro497=) c.1443A>C (p.Pro481=) c.1437A>C (p.Pro479=) c.1338A>C (p.Pro446=) c.984A>C (p.Pro328=) | |
| 1 | g.154465317A>G | CA420976018 | IL6R | c.1344A>G (p.Pro448=) c.*152A>G (n.*152A>G) c.*25A>G (n.*25A>G) c.*185A>G (n.*185A>G) c.1392A>G (p.Pro464=) c.1491A>G (p.Pro497=) c.1443A>G (p.Pro481=) c.1437A>G (p.Pro479=) c.1338A>G (p.Pro446=) c.984A>G (p.Pro328=) | |
| 1 | g.154465317A>T | CA420976017 | IL6R | c.1344A>T (p.Pro448=) c.*152A>T (n.*152A>T) c.*25A>T (n.*25A>T) c.*185A>T (n.*185A>T) c.1392A>T (p.Pro464=) c.1491A>T (p.Pro497=) c.1443A>T (p.Pro481=) c.1437A>T (p.Pro479=) c.1338A>T (p.Pro446=) c.984A>T (p.Pro328=) | |
| 1 | g.154465318G>A | CA342628692 | IL6R | c.1345G>A (p.Asp449Asn) c.*153G>A (n.*153G>A) c.*26G>A (n.*26G>A) c.*186G>A (n.*186G>A) c.1393G>A (p.Asp465Asn) c.1492G>A (p.Asp498Asn) c.1444G>A (p.Asp482Asn) c.1438G>A (p.Asp480Asn) c.1339G>A (p.Asp447Asn) c.985G>A (p.Asp329Asn) | gnomAD v4 |
| 1 | g.154465318G>C | CA342628693 | IL6R | c.1345G>C (p.Asp449His) c.*153G>C (n.*153G>C) c.*26G>C (n.*26G>C) c.*186G>C (n.*186G>C) c.1393G>C (p.Asp465His) c.1492G>C (p.Asp498His) c.1444G>C (p.Asp482His) c.1438G>C (p.Asp480His) c.1339G>C (p.Asp447His) c.985G>C (p.Asp329His) | |
| 1 | g.154465318G>T | CA342628694 | IL6R | c.1345G>T (p.Asp449Tyr) c.*153G>T (n.*153G>T) c.*26G>T (n.*26G>T) c.*186G>T (n.*186G>T) c.1393G>T (p.Asp465Tyr) c.1492G>T (p.Asp498Tyr) c.1444G>T (p.Asp482Tyr) c.1438G>T (p.Asp480Tyr) c.1339G>T (p.Asp447Tyr) c.985G>T (p.Asp329Tyr) | |
| 1 | g.154465319A>C | CA342628697 | IL6R | c.1346A>C (p.Asp449Ala) c.*154A>C (n.*154A>C) c.*27A>C (n.*27A>C) c.*187A>C (n.*187A>C) c.1394A>C (p.Asp465Ala) c.1493A>C (p.Asp498Ala) c.1445A>C (p.Asp482Ala) c.1439A>C (p.Asp480Ala) c.1340A>C (p.Asp447Ala) c.986A>C (p.Asp329Ala) | |
| 1 | g.154465319A>G | CA342628696 | IL6R | c.1346A>G (p.Asp449Gly) c.*154A>G (n.*154A>G) c.*27A>G (n.*27A>G) c.*187A>G (n.*187A>G) c.1394A>G (p.Asp465Gly) c.1493A>G (p.Asp498Gly) c.1445A>G (p.Asp482Gly) c.1439A>G (p.Asp480Gly) c.1340A>G (p.Asp447Gly) c.986A>G (p.Asp329Gly) | |
| 1 | g.154465319A>T | CA342628695 | IL6R | c.1346A>T (p.Asp449Val) c.*154A>T (n.*154A>T) c.*27A>T (n.*27A>T) c.*187A>T (n.*187A>T) c.1394A>T (p.Asp465Val) c.1493A>T (p.Asp498Val) c.1445A>T (p.Asp482Val) c.1439A>T (p.Asp480Val) c.1340A>T (p.Asp447Val) c.986A>T (p.Asp329Val) | |
| 1 | g.154465319_154465320delinsAT | CA2480880332 | IL6R | c.1346_1347delinsAT (p.Asp449=) c.*154_*155delinsAT (n.*154_*155delinsAT) c.*27_*28delinsAT (n.*27_*28delinsAT) c.*187_*188delinsAT (n.*187_*188delinsAT) c.1394_1395delinsAT (p.Asp465=) c.1493_1494delinsAT (p.Asp498=) c.1445_1446delinsAT (p.Asp482=) c.1439_1440delinsAT (p.Asp480=) c.1340_1341delinsAT (p.Asp447=) c.986_987delinsAT (p.Asp329=) | |
| 1 | g.154465320del | CA2480880333 | IL6R | c.1347del (p.Asp449GlufsTer?) c.*155del (n.*155del) c.*28del (n.*28del) c.*188del (n.*188del) c.1395del (p.Asp465GlufsTer?) c.1494del (p.Asp498GlufsTer?) c.1446del (p.Asp482GlufsTer?) c.1440del (p.Asp480GlufsTer?) c.1341del (p.Asp447GlufsTer?) c.987del (p.Asp329GlufsTer?) | dbSNP |
| 1 | g.154465320T>A | CA342628698 | IL6R | c.1347T>A (p.Asp449Glu) c.*155T>A (n.*155T>A) c.*28T>A (n.*28T>A) c.*188T>A (n.*188T>A) c.1395T>A (p.Asp465Glu) c.1494T>A (p.Asp498Glu) c.1446T>A (p.Asp482Glu) c.1440T>A (p.Asp480Glu) c.1341T>A (p.Asp447Glu) c.987T>A (p.Asp329Glu) | |
| 1 | g.154465320T>C | CA420976020 | IL6R | c.1347T>C (p.Asp449=) c.*155T>C (n.*155T>C) c.*28T>C (n.*28T>C) c.*188T>C (n.*188T>C) c.1395T>C (p.Asp465=) c.1494T>C (p.Asp498=) c.1446T>C (p.Asp482=) c.1440T>C (p.Asp480=) c.1341T>C (p.Asp447=) c.987T>C (p.Asp329=) | |
| 1 | g.154465320T>G | CA342628699 | IL6R | c.1347T>G (p.Asp449Glu) c.*155T>G (n.*155T>G) c.*28T>G (n.*28T>G) c.*188T>G (n.*188T>G) c.1395T>G (p.Asp465Glu) c.1494T>G (p.Asp498Glu) c.1446T>G (p.Asp482Glu) c.1440T>G (p.Asp480Glu) c.1341T>G (p.Asp447Glu) c.987T>G (p.Asp329Glu) | |
| 1 | g.154465321G>A | CA342628700 | IL6R | c.1348G>A (p.Ala450Thr) c.*156G>A (n.*156G>A) c.*29G>A (n.*29G>A) c.*189G>A (n.*189G>A) c.1396G>A (p.Ala466Thr) c.1495G>A (p.Ala499Thr) c.1447G>A (p.Ala483Thr) c.1441G>A (p.Ala481Thr) c.1342G>A (p.Ala448Thr) c.988G>A (p.Ala330Thr) | |
| 1 | g.154465321G>C | CA342628701 | IL6R | c.1348G>C (p.Ala450Pro) c.*156G>C (n.*156G>C) c.*29G>C (n.*29G>C) c.*189G>C (n.*189G>C) c.1396G>C (p.Ala466Pro) c.1495G>C (p.Ala499Pro) c.1447G>C (p.Ala483Pro) c.1441G>C (p.Ala481Pro) c.1342G>C (p.Ala448Pro) c.988G>C (p.Ala330Pro) | |
| 1 | g.154465321G>T | CA342628702 | IL6R | c.1348G>T (p.Ala450Ser) c.*156G>T (n.*156G>T) c.*29G>T (n.*29G>T) c.*189G>T (n.*189G>T) c.1396G>T (p.Ala466Ser) c.1495G>T (p.Ala499Ser) c.1447G>T (p.Ala483Ser) c.1441G>T (p.Ala481Ser) c.1342G>T (p.Ala448Ser) c.988G>T (p.Ala330Ser) | |
| 1 | g.154465324_154465339del | CA2573909651 | IL6R | c.1351_1366del (p.Arg451LeufsTer?) c.*159_*174del (n.*159_*174del) c.*32_*47del (n.*32_*47del) c.*192_*207del (n.*192_*207del) c.1399_1414del (p.Arg467LeufsTer?) c.1498_1513del (p.Arg500LeufsTer?) c.1450_1465del (p.Arg484LeufsTer?) c.1444_1459del (p.Arg482LeufsTer?) c.1345_1360del (p.Arg449LeufsTer?) c.991_1006del (p.Arg331LeufsTer?) | |
| 1 | g.154465322C>A | CA342628703 | IL6R | c.1349C>A (p.Ala450Asp) c.*157C>A (n.*157C>A) c.*30C>A (n.*30C>A) c.*190C>A (n.*190C>A) c.1397C>A (p.Ala466Asp) c.1496C>A (p.Ala499Asp) c.1448C>A (p.Ala483Asp) c.1442C>A (p.Ala481Asp) c.1343C>A (p.Ala448Asp) c.989C>A (p.Ala330Asp) | |
| 1 | g.154465322C>G | CA342628704 | IL6R | c.1349C>G (p.Ala450Gly) c.*157C>G (n.*157C>G) c.*30C>G (n.*30C>G) c.*190C>G (n.*190C>G) c.1397C>G (p.Ala466Gly) c.1496C>G (p.Ala499Gly) c.1448C>G (p.Ala483Gly) c.1442C>G (p.Ala481Gly) c.1343C>G (p.Ala448Gly) c.989C>G (p.Ala330Gly) | |
| 1 | g.154465322C>T | CA342628705 | IL6R | c.1349C>T (p.Ala450Val) c.*157C>T (n.*157C>T) c.*30C>T (n.*30C>T) c.*190C>T (n.*190C>T) c.1397C>T (p.Ala466Val) c.1496C>T (p.Ala499Val) c.1448C>T (p.Ala483Val) c.1442C>T (p.Ala481Val) c.1343C>T (p.Ala448Val) c.989C>T (p.Ala330Val) | |
| 1 | g.154465323C>A | CA420976021 | IL6R | c.1350C>A (p.Ala450=) c.*158C>A (n.*158C>A) c.*31C>A (n.*31C>A) c.*191C>A (n.*191C>A) c.1398C>A (p.Ala466=) c.1497C>A (p.Ala499=) c.1449C>A (p.Ala483=) c.1443C>A (p.Ala481=) c.1344C>A (p.Ala448=) c.990C>A (p.Ala330=) | |
| 1 | g.154465323C= | CA2480880334 | IL6R | c.1350C= (p.Ala450=) c.*158C= (n.*158C=) c.*31C= (n.*31C=) c.*191C= (n.*191C=) c.1398C= (p.Ala466=) c.1497C= (p.Ala499=) c.1449C= (p.Ala483=) c.1443C= (p.Ala481=) c.1344C= (p.Ala448=) c.990C= (p.Ala330=) | |
| 1 | g.154465323C>G | CA420976022 | IL6R | c.1350C>G (p.Ala450=) c.*158C>G (n.*158C>G) c.*31C>G (n.*31C>G) c.*191C>G (n.*191C>G) c.1398C>G (p.Ala466=) c.1497C>G (p.Ala499=) c.1449C>G (p.Ala483=) c.1443C>G (p.Ala481=) c.1344C>G (p.Ala448=) c.990C>G (p.Ala330=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.154465323C>T | CA420976023 | IL6R | c.1350C>T (p.Ala450=) c.*158C>T (n.*158C>T) c.*31C>T (n.*31C>T) c.*191C>T (n.*191C>T) c.1398C>T (p.Ala466=) c.1497C>T (p.Ala499=) c.1449C>T (p.Ala483=) c.1443C>T (p.Ala481=) c.1344C>T (p.Ala448=) c.990C>T (p.Ala330=) | |
| 1 | g.154465324A= | CA1149117317 | IL6R | c.1351A= (p.Arg451=) c.*159A= (n.*159A=) c.*32A= (n.*32A=) c.*192A= (n.*192A=) c.1399A= (p.Arg467=) c.1498A= (p.Arg500=) c.1450A= (p.Arg484=) c.1444A= (p.Arg482=) c.1345A= (p.Arg449=) c.991A= (p.Arg331=) | |
| 1 | g.154465324A>C | CA420976024 | IL6R | c.1351A>C (p.Arg451=) c.*159A>C (n.*159A>C) c.*32A>C (n.*32A>C) c.*192A>C (n.*192A>C) c.1399A>C (p.Arg467=) c.1498A>C (p.Arg500=) c.1450A>C (p.Arg484=) c.1444A>C (p.Arg482=) c.1345A>C (p.Arg449=) c.991A>C (p.Arg331=) | |
| 1 | g.154465324A>G | CA342628706 | IL6R | c.1351A>G (p.Arg451Gly) c.*159A>G (n.*159A>G) c.*32A>G (n.*32A>G) c.*192A>G (n.*192A>G) c.1399A>G (p.Arg467Gly) c.1498A>G (p.Arg500Gly) c.1450A>G (p.Arg484Gly) c.1444A>G (p.Arg482Gly) c.1345A>G (p.Arg449Gly) c.991A>G (p.Arg331Gly) | |
| 1 | g.154465324A>T | CA1129356 | IL6R | c.1351A>T (p.Arg451Trp) c.*159A>T (n.*159A>T) c.*32A>T (n.*32A>T) c.*192A>T (n.*192A>T) c.1399A>T (p.Arg467Trp) c.1498A>T (p.Arg500Trp) c.1450A>T (p.Arg484Trp) c.1444A>T (p.Arg482Trp) c.1345A>T (p.Arg449Trp) c.991A>T (p.Arg331Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.154465325G>A | CA342628707 | IL6R | c.1352G>A (p.Arg451Lys) c.*160G>A (n.*160G>A) c.*33G>A (n.*33G>A) c.*193G>A (n.*193G>A) c.1400G>A (p.Arg467Lys) c.1499G>A (p.Arg500Lys) c.1451G>A (p.Arg484Lys) c.1445G>A (p.Arg482Lys) c.1346G>A (p.Arg449Lys) c.992G>A (p.Arg331Lys) | |
| 1 | g.154465325G>C | CA1129357 | IL6R | c.1352G>C (p.Arg451Thr) c.*160G>C (n.*160G>C) c.*33G>C (n.*33G>C) c.*193G>C (n.*193G>C) c.1400G>C (p.Arg467Thr) c.1499G>C (p.Arg500Thr) c.1451G>C (p.Arg484Thr) c.1445G>C (p.Arg482Thr) c.1346G>C (p.Arg449Thr) c.992G>C (p.Arg331Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465325G= | CA1141885200 | IL6R | c.1352G= (p.Arg451=) c.*160G= (n.*160G=) c.*33G= (n.*33G=) c.*193G= (n.*193G=) c.1400G= (p.Arg467=) c.1499G= (p.Arg500=) c.1451G= (p.Arg484=) c.1445G= (p.Arg482=) c.1346G= (p.Arg449=) c.992G= (p.Arg331=) | |
| 1 | g.154465325G>T | CA342628708 | IL6R | c.1352G>T (p.Arg451Met) c.*160G>T (n.*160G>T) c.*33G>T (n.*33G>T) c.*193G>T (n.*193G>T) c.1400G>T (p.Arg467Met) c.1499G>T (p.Arg500Met) c.1451G>T (p.Arg484Met) c.1445G>T (p.Arg482Met) c.1346G>T (p.Arg449Met) c.992G>T (p.Arg331Met) | |
| 1 | g.154465326G>A | CA420976025 | IL6R | c.1353G>A (p.Arg451=) c.*161G>A (n.*161G>A) c.*34G>A (n.*34G>A) c.*194G>A (n.*194G>A) c.1401G>A (p.Arg467=) c.1500G>A (p.Arg500=) c.1452G>A (p.Arg484=) c.1446G>A (p.Arg482=) c.1347G>A (p.Arg449=) c.993G>A (p.Arg331=) | |
| 1 | g.154465326G>C | CA342628709 | IL6R | c.1353G>C (p.Arg451Ser) c.*161G>C (n.*161G>C) c.*34G>C (n.*34G>C) c.*194G>C (n.*194G>C) c.1401G>C (p.Arg467Ser) c.1500G>C (p.Arg500Ser) c.1452G>C (p.Arg484Ser) c.1446G>C (p.Arg482Ser) c.1347G>C (p.Arg449Ser) c.993G>C (p.Arg331Ser) | |
| 1 | g.154465326G>T | CA342628710 | IL6R | c.1353G>T (p.Arg451Ser) c.*161G>T (n.*161G>T) c.*34G>T (n.*34G>T) c.*194G>T (n.*194G>T) c.1401G>T (p.Arg467Ser) c.1500G>T (p.Arg500Ser) c.1452G>T (p.Arg484Ser) c.1446G>T (p.Arg482Ser) c.1347G>T (p.Arg449Ser) c.993G>T (p.Arg331Ser) | |
| 1 | g.154465327G>A | CA342628713 | IL6R | c.1354G>A (p.Asp452Asn) c.*162G>A (n.*162G>A) c.*35G>A (n.*35G>A) c.*195G>A (n.*195G>A) c.1402G>A (p.Asp468Asn) c.1501G>A (p.Asp501Asn) c.1453G>A (p.Asp485Asn) c.1447G>A (p.Asp483Asn) c.1348G>A (p.Asp450Asn) c.994G>A (p.Asp332Asn) | |
| 1 | g.154465327G>C | CA342628712 | IL6R | c.1354G>C (p.Asp452His) c.*162G>C (n.*162G>C) c.*35G>C (n.*35G>C) c.*195G>C (n.*195G>C) c.1402G>C (p.Asp468His) c.1501G>C (p.Asp501His) c.1453G>C (p.Asp485His) c.1447G>C (p.Asp483His) c.1348G>C (p.Asp450His) c.994G>C (p.Asp332His) | |
| 1 | g.154465327G>T | CA342628711 | IL6R | c.1354G>T (p.Asp452Tyr) c.*162G>T (n.*162G>T) c.*35G>T (n.*35G>T) c.*195G>T (n.*195G>T) c.1402G>T (p.Asp468Tyr) c.1501G>T (p.Asp501Tyr) c.1453G>T (p.Asp485Tyr) c.1447G>T (p.Asp483Tyr) c.1348G>T (p.Asp450Tyr) c.994G>T (p.Asp332Tyr) | |
| 1 | g.154465328A>C | CA342628714 | IL6R | c.1355A>C (p.Asp452Ala) c.*163A>C (n.*163A>C) c.*36A>C (n.*36A>C) c.*196A>C (n.*196A>C) c.1403A>C (p.Asp468Ala) c.1502A>C (p.Asp501Ala) c.1454A>C (p.Asp485Ala) c.1448A>C (p.Asp483Ala) c.1349A>C (p.Asp450Ala) c.995A>C (p.Asp332Ala) | |
| 1 | g.154465328A>G | CA342628715 | IL6R | c.1355A>G (p.Asp452Gly) c.*163A>G (n.*163A>G) c.*36A>G (n.*36A>G) c.*196A>G (n.*196A>G) c.1403A>G (p.Asp468Gly) c.1502A>G (p.Asp501Gly) c.1454A>G (p.Asp485Gly) c.1448A>G (p.Asp483Gly) c.1349A>G (p.Asp450Gly) c.995A>G (p.Asp332Gly) | |
| 1 | g.154465328A>T | CA342628716 | IL6R | c.1355A>T (p.Asp452Val) c.*163A>T (n.*163A>T) c.*36A>T (n.*36A>T) c.*196A>T (n.*196A>T) c.1403A>T (p.Asp468Val) c.1502A>T (p.Asp501Val) c.1454A>T (p.Asp485Val) c.1448A>T (p.Asp483Val) c.1349A>T (p.Asp450Val) c.995A>T (p.Asp332Val) | gnomAD v4 |
| 1 | g.154465329C>A | CA342628717 | IL6R | c.1356C>A (p.Asp452Glu) c.*164C>A (n.*164C>A) c.*37C>A (n.*37C>A) c.*197C>A (n.*197C>A) c.1404C>A (p.Asp468Glu) c.1503C>A (p.Asp501Glu) c.1455C>A (p.Asp485Glu) c.1449C>A (p.Asp483Glu) c.1350C>A (p.Asp450Glu) c.996C>A (p.Asp332Glu) | |
| 1 | g.154465329C>G | CA342628718 | IL6R | c.1356C>G (p.Asp452Glu) c.*164C>G (n.*164C>G) c.*37C>G (n.*37C>G) c.*197C>G (n.*197C>G) c.1404C>G (p.Asp468Glu) c.1503C>G (p.Asp501Glu) c.1455C>G (p.Asp485Glu) c.1449C>G (p.Asp483Glu) c.1350C>G (p.Asp450Glu) c.996C>G (p.Asp332Glu) | |
| 1 | g.154465329C>T | CA420976026 | IL6R | c.1356C>T (p.Asp452=) c.*164C>T (n.*164C>T) c.*37C>T (n.*37C>T) c.*197C>T (n.*197C>T) c.1404C>T (p.Asp468=) c.1503C>T (p.Asp501=) c.1455C>T (p.Asp485=) c.1449C>T (p.Asp483=) c.1350C>T (p.Asp450=) c.996C>T (p.Asp332=) | |
| 1 | g.154465330C>A | CA342628719 | IL6R | c.1357C>A (p.Pro453Thr) c.*165C>A (n.*165C>A) c.*38C>A (n.*38C>A) c.*198C>A (n.*198C>A) c.1405C>A (p.Pro469Thr) c.1504C>A (p.Pro502Thr) c.1456C>A (p.Pro486Thr) c.1450C>A (p.Pro484Thr) c.1351C>A (p.Pro451Thr) c.997C>A (p.Pro333Thr) | |
| 1 | g.154465330C>G | CA342628720 | IL6R | c.1357C>G (p.Pro453Ala) c.*165C>G (n.*165C>G) c.*38C>G (n.*38C>G) c.*198C>G (n.*198C>G) c.1405C>G (p.Pro469Ala) c.1504C>G (p.Pro502Ala) c.1456C>G (p.Pro486Ala) c.1450C>G (p.Pro484Ala) c.1351C>G (p.Pro451Ala) c.997C>G (p.Pro333Ala) | |
| 1 | g.154465330C>T | CA342628721 | IL6R | c.1357C>T (p.Pro453Ser) c.*165C>T (n.*165C>T) c.*38C>T (n.*38C>T) c.*198C>T (n.*198C>T) c.1405C>T (p.Pro469Ser) c.1504C>T (p.Pro502Ser) c.1456C>T (p.Pro486Ser) c.1450C>T (p.Pro484Ser) c.1351C>T (p.Pro451Ser) c.997C>T (p.Pro333Ser) | |
| 1 | g.154465331C>A | CA342628722 | IL6R | c.1358C>A (p.Pro453Gln) c.*166C>A (n.*166C>A) c.*39C>A (n.*39C>A) c.*199C>A (n.*199C>A) c.1406C>A (p.Pro469Gln) c.1505C>A (p.Pro502Gln) c.1457C>A (p.Pro486Gln) c.1451C>A (p.Pro484Gln) c.1352C>A (p.Pro451Gln) c.998C>A (p.Pro333Gln) | |
| 1 | g.154465331C>G | CA342628723 | IL6R | c.1358C>G (p.Pro453Arg) c.*166C>G (n.*166C>G) c.*39C>G (n.*39C>G) c.*199C>G (n.*199C>G) c.1406C>G (p.Pro469Arg) c.1505C>G (p.Pro502Arg) c.1457C>G (p.Pro486Arg) c.1451C>G (p.Pro484Arg) c.1352C>G (p.Pro451Arg) c.998C>G (p.Pro333Arg) | |
| 1 | g.154465331C>T | CA342628724 | IL6R | c.1358C>T (p.Pro453Leu) c.*166C>T (n.*166C>T) c.*39C>T (n.*39C>T) c.*199C>T (n.*199C>T) c.1406C>T (p.Pro469Leu) c.1505C>T (p.Pro502Leu) c.1457C>T (p.Pro486Leu) c.1451C>T (p.Pro484Leu) c.1352C>T (p.Pro451Leu) c.998C>T (p.Pro333Leu) | |
| 1 | g.154465332A>C | CA420976027 | IL6R | c.1359A>C (p.Pro453=) c.*167A>C (n.*167A>C) c.*40A>C (n.*40A>C) c.*200A>C (n.*200A>C) c.1407A>C (p.Pro469=) c.1506A>C (p.Pro502=) c.1458A>C (p.Pro486=) c.1452A>C (p.Pro484=) c.1353A>C (p.Pro451=) c.999A>C (p.Pro333=) | |
| 1 | g.154465332A>G | CA420976028 | IL6R | c.1359A>G (p.Pro453=) c.*167A>G (n.*167A>G) c.*40A>G (n.*40A>G) c.*200A>G (n.*200A>G) c.1407A>G (p.Pro469=) c.1506A>G (p.Pro502=) c.1458A>G (p.Pro486=) c.1452A>G (p.Pro484=) c.1353A>G (p.Pro451=) c.999A>G (p.Pro333=) | |
| 1 | g.154465332A>T | CA420976029 | IL6R | c.1359A>T (p.Pro453=) c.*167A>T (n.*167A>T) c.*40A>T (n.*40A>T) c.*200A>T (n.*200A>T) c.1407A>T (p.Pro469=) c.1506A>T (p.Pro502=) c.1458A>T (p.Pro486=) c.1452A>T (p.Pro484=) c.1353A>T (p.Pro451=) c.999A>T (p.Pro333=) | |
| 1 | g.154465333C>A | CA420976030 | IL6R | c.1360C>A (p.Arg454=) c.*168C>A (n.*168C>A) c.*41C>A (n.*41C>A) c.*201C>A (n.*201C>A) c.1408C>A (p.Arg470=) c.1507C>A (p.Arg503=) c.1459C>A (p.Arg487=) c.1453C>A (p.Arg485=) c.1354C>A (p.Arg452=) c.1000C>A (p.Arg334=) | |
| 1 | g.154465333C= | CA2480880335 | IL6R | c.1360C= (p.Arg454=) c.*168C= (n.*168C=) c.*41C= (n.*41C=) c.*201C= (n.*201C=) c.1408C= (p.Arg470=) c.1507C= (p.Arg503=) c.1459C= (p.Arg487=) c.1453C= (p.Arg485=) c.1354C= (p.Arg452=) c.1000C= (p.Arg334=) | |
| 1 | g.154465333C>G | CA342628725 | IL6R | c.1360C>G (p.Arg454Gly) c.*168C>G (n.*168C>G) c.*41C>G (n.*41C>G) c.*201C>G (n.*201C>G) c.1408C>G (p.Arg470Gly) c.1507C>G (p.Arg503Gly) c.1459C>G (p.Arg487Gly) c.1453C>G (p.Arg485Gly) c.1354C>G (p.Arg452Gly) c.1000C>G (p.Arg334Gly) | |
| 1 | g.154465333C>T | CA1129358 | IL6R | c.1360C>T (p.Arg454Trp) c.*168C>T (n.*168C>T) c.*41C>T (n.*41C>T) c.*201C>T (n.*201C>T) c.1408C>T (p.Arg470Trp) c.1507C>T (p.Arg503Trp) c.1459C>T (p.Arg487Trp) c.1453C>T (p.Arg485Trp) c.1354C>T (p.Arg452Trp) c.1000C>T (p.Arg334Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465334G>A | CA342628727 | IL6R | c.1361G>A (p.Arg454Gln) c.*169G>A (n.*169G>A) c.*42G>A (n.*42G>A) c.*202G>A (n.*202G>A) c.1409G>A (p.Arg470Gln) c.1508G>A (p.Arg503Gln) c.1460G>A (p.Arg487Gln) c.1454G>A (p.Arg485Gln) c.1355G>A (p.Arg452Gln) c.1001G>A (p.Arg334Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.154465334G>C | CA342628728 | IL6R | c.1361G>C (p.Arg454Pro) c.*169G>C (n.*169G>C) c.*42G>C (n.*42G>C) c.*202G>C (n.*202G>C) c.1409G>C (p.Arg470Pro) c.1508G>C (p.Arg503Pro) c.1460G>C (p.Arg487Pro) c.1454G>C (p.Arg485Pro) c.1355G>C (p.Arg452Pro) c.1001G>C (p.Arg334Pro) | |
| 1 | g.154465334G= | CA2480880336 | IL6R | c.1361G= (p.Arg454=) c.*169G= (n.*169G=) c.*42G= (n.*42G=) c.*202G= (n.*202G=) c.1409G= (p.Arg470=) c.1508G= (p.Arg503=) c.1460G= (p.Arg487=) c.1454G= (p.Arg485=) c.1355G= (p.Arg452=) c.1001G= (p.Arg334=) | |
| 1 | g.154465334G>T | CA342628726 | IL6R | c.1361G>T (p.Arg454Leu) c.*169G>T (n.*169G>T) c.*42G>T (n.*42G>T) c.*202G>T (n.*202G>T) c.1409G>T (p.Arg470Leu) c.1508G>T (p.Arg503Leu) c.1460G>T (p.Arg487Leu) c.1454G>T (p.Arg485Leu) c.1355G>T (p.Arg452Leu) c.1001G>T (p.Arg334Leu) | |
| 1 | g.154465335G>A | CA420976031 | IL6R | c.1362G>A (p.Arg454=) c.*170G>A (n.*170G>A) c.*43G>A (n.*43G>A) c.*203G>A (n.*203G>A) c.1410G>A (p.Arg470=) c.1509G>A (p.Arg503=) c.1461G>A (p.Arg487=) c.1455G>A (p.Arg485=) c.1356G>A (p.Arg452=) c.1002G>A (p.Arg334=) | gnomAD v4 |
| 1 | g.154465335G>C | CA420976032 | IL6R | c.1362G>C (p.Arg454=) c.*170G>C (n.*170G>C) c.*43G>C (n.*43G>C) c.*203G>C (n.*203G>C) c.1410G>C (p.Arg470=) c.1509G>C (p.Arg503=) c.1461G>C (p.Arg487=) c.1455G>C (p.Arg485=) c.1356G>C (p.Arg452=) c.1002G>C (p.Arg334=) | |
| 1 | g.154465335G>T | CA420976033 | IL6R | c.1362G>T (p.Arg454=) c.*170G>T (n.*170G>T) c.*43G>T (n.*43G>T) c.*203G>T (n.*203G>T) c.1410G>T (p.Arg470=) c.1509G>T (p.Arg503=) c.1461G>T (p.Arg487=) c.1455G>T (p.Arg485=) c.1356G>T (p.Arg452=) c.1002G>T (p.Arg334=) | |
| 1 | g.154465336A>C | CA342628729 | IL6R | c.1363A>C (p.Ser455Arg) c.*171A>C (n.*171A>C) c.*44A>C (n.*44A>C) c.*204A>C (n.*204A>C) c.1411A>C (p.Ser471Arg) c.1510A>C (p.Ser504Arg) c.1462A>C (p.Ser488Arg) c.1456A>C (p.Ser486Arg) c.1357A>C (p.Ser453Arg) c.1003A>C (p.Ser335Arg) | |
| 1 | g.154465336A>G | CA342628730 | IL6R | c.1363A>G (p.Ser455Gly) c.*171A>G (n.*171A>G) c.*44A>G (n.*44A>G) c.*204A>G (n.*204A>G) c.1411A>G (p.Ser471Gly) c.1510A>G (p.Ser504Gly) c.1462A>G (p.Ser488Gly) c.1456A>G (p.Ser486Gly) c.1357A>G (p.Ser453Gly) c.1003A>G (p.Ser335Gly) | |
| 1 | g.154465336A>T | CA342628731 | IL6R | c.1363A>T (p.Ser455Cys) c.*171A>T (n.*171A>T) c.*44A>T (n.*44A>T) c.*204A>T (n.*204A>T) c.1411A>T (p.Ser471Cys) c.1510A>T (p.Ser504Cys) c.1462A>T (p.Ser488Cys) c.1456A>T (p.Ser486Cys) c.1357A>T (p.Ser453Cys) c.1003A>T (p.Ser335Cys) | |
| 1 | g.154465337G>A | CA30816613 | IL6R | c.1364G>A (p.Ser455Asn) c.*172G>A (n.*172G>A) c.*45G>A (n.*45G>A) c.*205G>A (n.*205G>A) c.1412G>A (p.Ser471Asn) c.1511G>A (p.Ser504Asn) c.1463G>A (p.Ser488Asn) c.1457G>A (p.Ser486Asn) c.1358G>A (p.Ser453Asn) c.1004G>A (p.Ser335Asn) | dbSNP |
| 1 | g.154465337G>C | CA30816622 | IL6R | c.1364G>C (p.Ser455Thr) c.*172G>C (n.*172G>C) c.*45G>C (n.*45G>C) c.*205G>C (n.*205G>C) c.1412G>C (p.Ser471Thr) c.1511G>C (p.Ser504Thr) c.1463G>C (p.Ser488Thr) c.1457G>C (p.Ser486Thr) c.1358G>C (p.Ser453Thr) c.1004G>C (p.Ser335Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.154465337G= | CA2480880337 | IL6R | c.1364G= (p.Ser455=) c.*172G= (n.*172G=) c.*45G= (n.*45G=) c.*205G= (n.*205G=) c.1412G= (p.Ser471=) c.1511G= (p.Ser504=) c.1463G= (p.Ser488=) c.1457G= (p.Ser486=) c.1358G= (p.Ser453=) c.1004G= (p.Ser335=) | |
| 1 | g.154465337G>T | CA342628732 | IL6R | c.1364G>T (p.Ser455Ile) c.*172G>T (n.*172G>T) c.*45G>T (n.*45G>T) c.*205G>T (n.*205G>T) c.1412G>T (p.Ser471Ile) c.1511G>T (p.Ser504Ile) c.1463G>T (p.Ser488Ile) c.1457G>T (p.Ser486Ile) c.1358G>T (p.Ser453Ile) c.1004G>T (p.Ser335Ile) | |
| 1 | g.154465338C>A | CA342628733 | IL6R | c.1365C>A (p.Ser455Arg) c.*173C>A (n.*173C>A) c.*46C>A (n.*46C>A) c.*206C>A (n.*206C>A) c.1413C>A (p.Ser471Arg) c.1512C>A (p.Ser504Arg) c.1464C>A (p.Ser488Arg) c.1458C>A (p.Ser486Arg) c.1359C>A (p.Ser453Arg) c.1005C>A (p.Ser335Arg) | |
| 1 | g.154465338C= | CA1143495538 | IL6R | c.1365C= (p.Ser455=) c.*173C= (n.*173C=) c.*46C= (n.*46C=) c.*206C= (n.*206C=) c.1413C= (p.Ser471=) c.1512C= (p.Ser504=) c.1464C= (p.Ser488=) c.1458C= (p.Ser486=) c.1359C= (p.Ser453=) c.1005C= (p.Ser335=) | |
| 1 | g.154465338C>G | CA30816632 | IL6R | c.1365C>G (p.Ser455Arg) c.*173C>G (n.*173C>G) c.*46C>G (n.*46C>G) c.*206C>G (n.*206C>G) c.1413C>G (p.Ser471Arg) c.1512C>G (p.Ser504Arg) c.1464C>G (p.Ser488Arg) c.1458C>G (p.Ser486Arg) c.1359C>G (p.Ser453Arg) c.1005C>G (p.Ser335Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465338C>T | CA420976034 | IL6R | c.1365C>T (p.Ser455=) c.*173C>T (n.*173C>T) c.*46C>T (n.*46C>T) c.*206C>T (n.*206C>T) c.1413C>T (p.Ser471=) c.1512C>T (p.Ser504=) c.1464C>T (p.Ser488=) c.1458C>T (p.Ser486=) c.1359C>T (p.Ser453=) c.1005C>T (p.Ser335=) | |
| 1 | g.154465339C>A | CA342628734 | IL6R | c.1366C>A (p.Pro456Thr) c.*174C>A (n.*174C>A) c.*47C>A (n.*47C>A) c.*207C>A (n.*207C>A) c.1414C>A (p.Pro472Thr) c.1513C>A (p.Pro505Thr) c.1465C>A (p.Pro489Thr) c.1459C>A (p.Pro487Thr) c.1360C>A (p.Pro454Thr) c.1006C>A (p.Pro336Thr) | |
| 1 | g.154465339C= | CA2480880338 | IL6R | c.1366C= (p.Pro456=) c.*174C= (n.*174C=) c.*47C= (n.*47C=) c.*207C= (n.*207C=) c.1414C= (p.Pro472=) c.1513C= (p.Pro505=) c.1465C= (p.Pro489=) c.1459C= (p.Pro487=) c.1360C= (p.Pro454=) c.1006C= (p.Pro336=) | |
| 1 | g.154465339C>G | CA342628735 | IL6R | c.1366C>G (p.Pro456Ala) c.*174C>G (n.*174C>G) c.*47C>G (n.*47C>G) c.*207C>G (n.*207C>G) c.1414C>G (p.Pro472Ala) c.1513C>G (p.Pro505Ala) c.1465C>G (p.Pro489Ala) c.1459C>G (p.Pro487Ala) c.1360C>G (p.Pro454Ala) c.1006C>G (p.Pro336Ala) | |
| 1 | g.154465339C>T | CA342628736 | IL6R | c.1366C>T (p.Pro456Ser) c.*174C>T (n.*174C>T) c.*47C>T (n.*47C>T) c.*207C>T (n.*207C>T) c.1414C>T (p.Pro472Ser) c.1513C>T (p.Pro505Ser) c.1465C>T (p.Pro489Ser) c.1459C>T (p.Pro487Ser) c.1360C>T (p.Pro454Ser) c.1006C>T (p.Pro336Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.154465340C>A | CA342628739 | IL6R | c.1367C>A (p.Pro456His) c.*175C>A (n.*175C>A) c.*48C>A (n.*48C>A) c.*208C>A (n.*208C>A) c.1415C>A (p.Pro472His) c.1514C>A (p.Pro505His) c.1466C>A (p.Pro489His) c.1460C>A (p.Pro487His) c.1361C>A (p.Pro454His) c.1007C>A (p.Pro336His) | |
| 1 | g.154465340C>G | CA342628738 | IL6R | c.1367C>G (p.Pro456Arg) c.*175C>G (n.*175C>G) c.*48C>G (n.*48C>G) c.*208C>G (n.*208C>G) c.1415C>G (p.Pro472Arg) c.1514C>G (p.Pro505Arg) c.1466C>G (p.Pro489Arg) c.1460C>G (p.Pro487Arg) c.1361C>G (p.Pro454Arg) c.1007C>G (p.Pro336Arg) | |
| 1 | g.154465340C>T | CA342628737 | IL6R | c.1367C>T (p.Pro456Leu) c.*175C>T (n.*175C>T) c.*48C>T (n.*48C>T) c.*208C>T (n.*208C>T) c.1415C>T (p.Pro472Leu) c.1514C>T (p.Pro505Leu) c.1466C>T (p.Pro489Leu) c.1460C>T (p.Pro487Leu) c.1361C>T (p.Pro454Leu) c.1007C>T (p.Pro336Leu) | |
| 1 | g.154465341T>A | CA420976035 | IL6R | c.1368T>A (p.Pro456=) c.*176T>A (n.*176T>A) c.*49T>A (n.*49T>A) c.*209T>A (n.*209T>A) c.1416T>A (p.Pro472=) c.1515T>A (p.Pro505=) c.1467T>A (p.Pro489=) c.1461T>A (p.Pro487=) c.1362T>A (p.Pro454=) c.1008T>A (p.Pro336=) | |
| 1 | g.154465341T>C | CA420976036 | IL6R | c.1368T>C (p.Pro456=) c.*176T>C (n.*176T>C) c.*49T>C (n.*49T>C) c.*209T>C (n.*209T>C) c.1416T>C (p.Pro472=) c.1515T>C (p.Pro505=) c.1467T>C (p.Pro489=) c.1461T>C (p.Pro487=) c.1362T>C (p.Pro454=) c.1008T>C (p.Pro336=) | |
| 1 | g.154465341T>G | CA420976037 | IL6R | c.1368T>G (p.Pro456=) c.*176T>G (n.*176T>G) c.*49T>G (n.*49T>G) c.*209T>G (n.*209T>G) c.1416T>G (p.Pro472=) c.1515T>G (p.Pro505=) c.1467T>G (p.Pro489=) c.1461T>G (p.Pro487=) c.1362T>G (p.Pro454=) c.1008T>G (p.Pro336=) | |
| 1 | g.154465342T>A | CA342628740 | IL6R | c.1369T>A (p.Tyr457Asn) c.*177T>A (n.*177T>A) c.*50T>A (n.*50T>A) c.*210T>A (n.*210T>A) c.1417T>A (p.Tyr473Asn) c.1516T>A (p.Tyr506Asn) c.1468T>A (p.Tyr490Asn) c.1462T>A (p.Tyr488Asn) c.1363T>A (p.Tyr455Asn) c.1009T>A (p.Tyr337Asn) | |
| 1 | g.154465342T>C | CA342628741 | IL6R | c.1369T>C (p.Tyr457His) c.*177T>C (n.*177T>C) c.*50T>C (n.*50T>C) c.*210T>C (n.*210T>C) c.1417T>C (p.Tyr473His) c.1516T>C (p.Tyr506His) c.1468T>C (p.Tyr490His) c.1462T>C (p.Tyr488His) c.1363T>C (p.Tyr455His) c.1009T>C (p.Tyr337His) | |
| 1 | g.154465342T>G | CA342628742 | IL6R | c.1369T>G (p.Tyr457Asp) c.*177T>G (n.*177T>G) c.*50T>G (n.*50T>G) c.*210T>G (n.*210T>G) c.1417T>G (p.Tyr473Asp) c.1516T>G (p.Tyr506Asp) c.1468T>G (p.Tyr490Asp) c.1462T>G (p.Tyr488Asp) c.1363T>G (p.Tyr455Asp) c.1009T>G (p.Tyr337Asp) | |
| 1 | g.154465343A= | CA1148419749 | IL6R | c.1370A= (p.Tyr457=) c.*178A= (n.*178A=) c.*51A= (n.*51A=) c.*211A= (n.*211A=) c.1418A= (p.Tyr473=) c.1517A= (p.Tyr506=) c.1469A= (p.Tyr490=) c.1463A= (p.Tyr488=) c.1364A= (p.Tyr455=) c.1010A= (p.Tyr337=) | |
| 1 | g.154465343A>C | CA1129359 | IL6R | c.1370A>C (p.Tyr457Ser) c.*178A>C (n.*178A>C) c.*51A>C (n.*51A>C) c.*211A>C (n.*211A>C) c.1418A>C (p.Tyr473Ser) c.1517A>C (p.Tyr506Ser) c.1469A>C (p.Tyr490Ser) c.1463A>C (p.Tyr488Ser) c.1364A>C (p.Tyr455Ser) c.1010A>C (p.Tyr337Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.154465343A>G | CA342628743 | IL6R | c.1370A>G (p.Tyr457Cys) c.*178A>G (n.*178A>G) c.*51A>G (n.*51A>G) c.*211A>G (n.*211A>G) c.1418A>G (p.Tyr473Cys) c.1517A>G (p.Tyr506Cys) c.1469A>G (p.Tyr490Cys) c.1463A>G (p.Tyr488Cys) c.1364A>G (p.Tyr455Cys) c.1010A>G (p.Tyr337Cys) | gnomAD v4 |
| 1 | g.154465343A>T | CA342628744 | IL6R | c.1370A>T (p.Tyr457Phe) c.*178A>T (n.*178A>T) c.*51A>T (n.*51A>T) c.*211A>T (n.*211A>T) c.1418A>T (p.Tyr473Phe) c.1517A>T (p.Tyr506Phe) c.1469A>T (p.Tyr490Phe) c.1463A>T (p.Tyr488Phe) c.1364A>T (p.Tyr455Phe) c.1010A>T (p.Tyr337Phe) | |
| 1 | g.154465344T>A | CA342628746 | IL6R | c.1371T>A (p.Tyr457Ter) c.*179T>A (n.*179T>A) c.*52T>A (n.*52T>A) c.*212T>A (n.*212T>A) c.1419T>A (p.Tyr473Ter) c.1518T>A (p.Tyr506Ter) c.1470T>A (p.Tyr490Ter) c.1464T>A (p.Tyr488Ter) c.1365T>A (p.Tyr455Ter) c.1011T>A (p.Tyr337Ter) | |
| 1 | g.154465344T>C | CA1129360 | IL6R | c.1371T>C (p.Tyr457=) c.*179T>C (n.*179T>C) c.*52T>C (n.*52T>C) c.*212T>C (n.*212T>C) c.1419T>C (p.Tyr473=) c.1518T>C (p.Tyr506=) c.1470T>C (p.Tyr490=) c.1464T>C (p.Tyr488=) c.1365T>C (p.Tyr455=) c.1011T>C (p.Tyr337=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.154465344T>G | CA342628748 | IL6R | c.1371T>G (p.Tyr457Ter) c.*179T>G (n.*179T>G) c.*52T>G (n.*52T>G) c.*212T>G (n.*212T>G) c.1419T>G (p.Tyr473Ter) c.1518T>G (p.Tyr506Ter) c.1470T>G (p.Tyr490Ter) c.1464T>G (p.Tyr488Ter) c.1365T>G (p.Tyr455Ter) c.1011T>G (p.Tyr337Ter) | |
| 1 | g.154465344T= | CA2480880339 | IL6R | c.1371T= (p.Tyr457=) c.*179T= (n.*179T=) c.*52T= (n.*52T=) c.*212T= (n.*212T=) c.1419T= (p.Tyr473=) c.1518T= (p.Tyr506=) c.1470T= (p.Tyr490=) c.1464T= (p.Tyr488=) c.1365T= (p.Tyr455=) c.1011T= (p.Tyr337=) | |
| 1 | g.154465345G>A | CA342628749 | IL6R | c.1372G>A (p.Asp458Asn) c.*180G>A (n.*180G>A) c.*53G>A (n.*53G>A) c.*213G>A (n.*213G>A) c.1420G>A (p.Asp474Asn) c.1519G>A (p.Asp507Asn) c.1471G>A (p.Asp491Asn) c.1465G>A (p.Asp489Asn) c.1366G>A (p.Asp456Asn) c.1012G>A (p.Asp338Asn) | |
| 1 | g.154465345G>C | CA342628750 | IL6R | c.1372G>C (p.Asp458His) c.*180G>C (n.*180G>C) c.*53G>C (n.*53G>C) c.*213G>C (n.*213G>C) c.1420G>C (p.Asp474His) c.1519G>C (p.Asp507His) c.1471G>C (p.Asp491His) c.1465G>C (p.Asp489His) c.1366G>C (p.Asp456His) c.1012G>C (p.Asp338His) | |
| 1 | g.154465345G>T | CA342628751 | IL6R | c.1372G>T (p.Asp458Tyr) c.*180G>T (n.*180G>T) c.*53G>T (n.*53G>T) c.*213G>T (n.*213G>T) c.1420G>T (p.Asp474Tyr) c.1519G>T (p.Asp507Tyr) c.1471G>T (p.Asp491Tyr) c.1465G>T (p.Asp489Tyr) c.1366G>T (p.Asp456Tyr) c.1012G>T (p.Asp338Tyr) | |
| 1 | g.154465346A>C | CA342628755 | IL6R | c.1373A>C (p.Asp458Ala) c.*181A>C (n.*181A>C) c.*54A>C (n.*54A>C) c.*214A>C (n.*214A>C) c.1421A>C (p.Asp474Ala) c.1520A>C (p.Asp507Ala) c.1472A>C (p.Asp491Ala) c.1466A>C (p.Asp489Ala) c.1367A>C (p.Asp456Ala) c.1013A>C (p.Asp338Ala) | |
| 1 | g.154465346A>G | CA342628757 | IL6R | c.1373A>G (p.Asp458Gly) c.*181A>G (n.*181A>G) c.*54A>G (n.*54A>G) c.*214A>G (n.*214A>G) c.1421A>G (p.Asp474Gly) c.1520A>G (p.Asp507Gly) c.1472A>G (p.Asp491Gly) c.1466A>G (p.Asp489Gly) c.1367A>G (p.Asp456Gly) c.1013A>G (p.Asp338Gly) | |
| 1 | g.154465346A>T | CA342628753 | IL6R | c.1373A>T (p.Asp458Val) c.*181A>T (n.*181A>T) c.*54A>T (n.*54A>T) c.*214A>T (n.*214A>T) c.1421A>T (p.Asp474Val) c.1520A>T (p.Asp507Val) c.1472A>T (p.Asp491Val) c.1466A>T (p.Asp489Val) c.1367A>T (p.Asp456Val) c.1013A>T (p.Asp338Val) | |
| 1 | g.154465346_154465349delinsACAT | CA2480880340 | IL6R | c.1373_1376delinsACAT (p.Asp458=) c.*181_*184delinsACAT (n.*181_*184delinsACAT) c.*54_*57delinsACAT (n.*54_*57delinsACAT) c.*214_*217delinsACAT (n.*214_*217delinsACAT) c.1421_1424delinsACAT (p.Asp474=) c.1520_1523delinsACAT (p.Asp507=) c.1472_1475delinsACAT (p.Asp491=) c.1466_1469delinsACAT (p.Asp489=) c.1367_1370delinsACAT (p.Asp456=) c.1013_1016delinsACAT (p.Asp338=) | |
| 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.154465347C>A | CA342628759 | IL6R | c.1374C>A (p.Asp458Glu) c.*182C>A (n.*182C>A) c.*55C>A (n.*55C>A) c.*215C>A (n.*215C>A) c.1422C>A (p.Asp474Glu) c.1521C>A (p.Asp507Glu) c.1473C>A (p.Asp491Glu) c.1467C>A (p.Asp489Glu) c.1368C>A (p.Asp456Glu) c.1014C>A (p.Asp338Glu) | |
| 1 | g.154465347C= | CA2480880341 | IL6R | c.1374C= (p.Asp458=) c.*182C= (n.*182C=) c.*55C= (n.*55C=) c.*215C= (n.*215C=) c.1422C= (p.Asp474=) c.1521C= (p.Asp507=) c.1473C= (p.Asp491=) c.1467C= (p.Asp489=) c.1368C= (p.Asp456=) c.1014C= (p.Asp338=) | |
| 1 | g.154465347C>G | CA342628760 | IL6R | c.1374C>G (p.Asp458Glu) c.*182C>G (n.*182C>G) c.*55C>G (n.*55C>G) c.*215C>G (n.*215C>G) c.1422C>G (p.Asp474Glu) c.1521C>G (p.Asp507Glu) c.1473C>G (p.Asp491Glu) c.1467C>G (p.Asp489Glu) c.1368C>G (p.Asp456Glu) c.1014C>G (p.Asp338Glu) | COSMIC |
| 1 | g.154465347C>T | CA1129362 | IL6R | c.1374C>T (p.Asp458=) c.*182C>T (n.*182C>T) c.*55C>T (n.*55C>T) c.*215C>T (n.*215C>T) c.1422C>T (p.Asp474=) c.1521C>T (p.Asp507=) c.1473C>T (p.Asp491=) c.1467C>T (p.Asp489=) c.1368C>T (p.Asp456=) c.1014C>T (p.Asp338=) | dbSNP ExAC gnomAD v2 gnomAD v3 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.154465348A>C | CA342628764 | IL6R | c.1375A>C (p.Ile459Leu) c.*183A>C (n.*183A>C) c.*56A>C (n.*56A>C) c.*216A>C (n.*216A>C) c.1423A>C (p.Ile475Leu) c.1522A>C (p.Ile508Leu) c.1474A>C (p.Ile492Leu) c.1468A>C (p.Ile490Leu) c.1369A>C (p.Ile457Leu) c.1015A>C (p.Ile339Leu) | |
| 1 | g.154465348A>G | CA342628766 | IL6R | c.1375A>G (p.Ile459Val) c.*183A>G (n.*183A>G) c.*56A>G (n.*56A>G) c.*216A>G (n.*216A>G) c.1423A>G (p.Ile475Val) c.1522A>G (p.Ile508Val) c.1474A>G (p.Ile492Val) c.1468A>G (p.Ile490Val) c.1369A>G (p.Ile457Val) c.1015A>G (p.Ile339Val) | gnomAD v4 |
| 1 | g.154465348A>T | CA342628768 | IL6R | c.1375A>T (p.Ile459Phe) c.*183A>T (n.*183A>T) c.*56A>T (n.*56A>T) c.*216A>T (n.*216A>T) c.1423A>T (p.Ile475Phe) c.1522A>T (p.Ile508Phe) c.1474A>T (p.Ile492Phe) c.1468A>T (p.Ile490Phe) c.1369A>T (p.Ile457Phe) c.1015A>T (p.Ile339Phe) | |
| 1 | g.154465349T>A | CA342628770 | IL6R | c.1376T>A (p.Ile459Asn) c.*184T>A (n.*184T>A) c.*57T>A (n.*57T>A) c.*217T>A (n.*217T>A) c.1424T>A (p.Ile475Asn) c.1523T>A (p.Ile508Asn) c.1475T>A (p.Ile492Asn) c.1469T>A (p.Ile490Asn) c.1370T>A (p.Ile457Asn) c.1016T>A (p.Ile339Asn) | |
| 1 | g.154465349T>C | CA342628773 | IL6R | c.1376T>C (p.Ile459Thr) c.*184T>C (n.*184T>C) c.*57T>C (n.*57T>C) c.*217T>C (n.*217T>C) c.1424T>C (p.Ile475Thr) c.1523T>C (p.Ile508Thr) c.1475T>C (p.Ile492Thr) c.1469T>C (p.Ile490Thr) c.1370T>C (p.Ile457Thr) c.1016T>C (p.Ile339Thr) | |
| 1 | g.154465349T>G | CA342628771 | IL6R | c.1376T>G (p.Ile459Ser) c.*184T>G (n.*184T>G) c.*57T>G (n.*57T>G) c.*217T>G (n.*217T>G) c.1424T>G (p.Ile475Ser) c.1523T>G (p.Ile508Ser) c.1475T>G (p.Ile492Ser) c.1469T>G (p.Ile490Ser) c.1370T>G (p.Ile457Ser) c.1016T>G (p.Ile339Ser) | |
| 1 | g.154465350C>A | CA420976038 | IL6R | c.1377C>A (p.Ile459=) c.*185C>A (n.*185C>A) c.*58C>A (n.*58C>A) c.*218C>A (n.*218C>A) c.1425C>A (p.Ile475=) c.1524C>A (p.Ile508=) c.1476C>A (p.Ile492=) c.1470C>A (p.Ile490=) c.1371C>A (p.Ile457=) c.1017C>A (p.Ile339=) | |
| 1 | g.154465350C>G | CA342628775 | IL6R | c.1377C>G (p.Ile459Met) c.*185C>G (n.*185C>G) c.*58C>G (n.*58C>G) c.*218C>G (n.*218C>G) c.1425C>G (p.Ile475Met) c.1524C>G (p.Ile508Met) c.1476C>G (p.Ile492Met) c.1470C>G (p.Ile490Met) c.1371C>G (p.Ile457Met) c.1017C>G (p.Ile339Met) | |
| 1 | g.154465350C>T | CA420976039 | IL6R | c.1377C>T (p.Ile459=) c.*185C>T (n.*185C>T) c.*58C>T (n.*58C>T) c.*218C>T (n.*218C>T) c.1425C>T (p.Ile475=) c.1524C>T (p.Ile508=) c.1476C>T (p.Ile492=) c.1470C>T (p.Ile490=) c.1371C>T (p.Ile457=) c.1017C>T (p.Ile339=) | 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) | |
| 1 | g.154465364A= | CA2480880349 | IL6R | c.1391A= (p.Tyr464=) c.*199A= (n.*199A=) c.*72A= (n.*72A=) c.*232A= (n.*232A=) c.1439A= (p.Tyr480=) c.1538A= (p.Tyr513=) c.1490A= (p.Tyr497=) c.1484A= (p.Tyr495=) c.1385A= (p.Tyr462=) c.1031A= (p.Tyr344=) | |
| 1 | g.154465364A>C | CA342628836 | IL6R | c.1391A>C (p.Tyr464Ser) c.*199A>C (n.*199A>C) c.*72A>C (n.*72A>C) c.*232A>C (n.*232A>C) c.1439A>C (p.Tyr480Ser) c.1538A>C (p.Tyr513Ser) c.1490A>C (p.Tyr497Ser) c.1484A>C (p.Tyr495Ser) c.1385A>C (p.Tyr462Ser) c.1031A>C (p.Tyr344Ser) | |
| 1 | g.154465364A>G | CA1129365 | IL6R | c.1391A>G (p.Tyr464Cys) c.*199A>G (n.*199A>G) c.*72A>G (n.*72A>G) c.*232A>G (n.*232A>G) c.1439A>G (p.Tyr480Cys) c.1538A>G (p.Tyr513Cys) c.1490A>G (p.Tyr497Cys) c.1484A>G (p.Tyr495Cys) c.1385A>G (p.Tyr462Cys) c.1031A>G (p.Tyr344Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465364A>T | CA342628839 | IL6R | c.1391A>T (p.Tyr464Phe) c.*199A>T (n.*199A>T) c.*72A>T (n.*72A>T) c.*232A>T (n.*232A>T) c.1439A>T (p.Tyr480Phe) c.1538A>T (p.Tyr513Phe) c.1490A>T (p.Tyr497Phe) c.1484A>T (p.Tyr495Phe) c.1385A>T (p.Tyr462Phe) c.1031A>T (p.Tyr344Phe) | dbSNP gnomAD v4 |
| 1 | g.154465365C>A | CA342628841 | IL6R | c.1392C>A (p.Tyr464Ter) c.*200C>A (n.*200C>A) c.*73C>A (n.*73C>A) c.*233C>A (n.*233C>A) c.1440C>A (p.Tyr480Ter) c.1539C>A (p.Tyr513Ter) c.1491C>A (p.Tyr497Ter) c.1485C>A (p.Tyr495Ter) c.1386C>A (p.Tyr462Ter) c.1032C>A (p.Tyr344Ter) | |
| 1 | g.154465365C= | CA1139921840 | IL6R | c.1392C= (p.Tyr464=) c.*200C= (n.*200C=) c.*73C= (n.*73C=) c.*233C= (n.*233C=) c.1440C= (p.Tyr480=) c.1539C= (p.Tyr513=) c.1491C= (p.Tyr497=) c.1485C= (p.Tyr495=) c.1386C= (p.Tyr462=) c.1032C= (p.Tyr344=) | |
| 1 | g.154465365C>G | CA342628844 | IL6R | c.1392C>G (p.Tyr464Ter) c.*200C>G (n.*200C>G) c.*73C>G (n.*73C>G) c.*233C>G (n.*233C>G) c.1440C>G (p.Tyr480Ter) c.1539C>G (p.Tyr513Ter) c.1491C>G (p.Tyr497Ter) c.1485C>G (p.Tyr495Ter) c.1386C>G (p.Tyr462Ter) c.1032C>G (p.Tyr344Ter) | |
| 1 | g.154465365C>T | CA1129366 | IL6R | c.1392C>T (p.Tyr464=) c.*200C>T (n.*200C>T) c.*73C>T (n.*73C>T) c.*233C>T (n.*233C>T) c.1440C>T (p.Tyr480=) c.1539C>T (p.Tyr513=) c.1491C>T (p.Tyr497=) c.1485C>T (p.Tyr495=) c.1386C>T (p.Tyr462=) c.1032C>T (p.Tyr344=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465369_154465371del | CA645533235 | IL6R | c.1396_1398del (p.Phe466del) c.*204_*206del (n.*204_*206del) c.*77_*79del (n.*77_*79del) c.*237_*239del (n.*237_*239del) c.1444_1446del (p.Phe482del) c.1543_1545del (p.Phe515del) c.1495_1497del (p.Phe499del) c.1489_1491del (p.Phe497del) c.1390_1392del (p.Phe464del) c.1036_1038del (p.Phe346del) | gnomAD v4 COSMIC |
| 1 | g.154465366T>A | CA342628846 | IL6R | c.1393T>A (p.Phe465Ile) c.*201T>A (n.*201T>A) c.*74T>A (n.*74T>A) c.*234T>A (n.*234T>A) c.1441T>A (p.Phe481Ile) c.1540T>A (p.Phe514Ile) c.1492T>A (p.Phe498Ile) c.1486T>A (p.Phe496Ile) c.1387T>A (p.Phe463Ile) c.1033T>A (p.Phe345Ile) | |
| 1 | g.154465366T>C | CA342628848 | IL6R | c.1393T>C (p.Phe465Leu) c.*201T>C (n.*201T>C) c.*74T>C (n.*74T>C) c.*234T>C (n.*234T>C) c.1441T>C (p.Phe481Leu) c.1540T>C (p.Phe514Leu) c.1492T>C (p.Phe498Leu) c.1486T>C (p.Phe496Leu) c.1387T>C (p.Phe463Leu) c.1033T>C (p.Phe345Leu) | |
| 1 | g.154465366T>G | CA342628849 | IL6R | c.1393T>G (p.Phe465Val) c.*201T>G (n.*201T>G) c.*74T>G (n.*74T>G) c.*234T>G (n.*234T>G) c.1441T>G (p.Phe481Val) c.1540T>G (p.Phe514Val) c.1492T>G (p.Phe498Val) c.1486T>G (p.Phe496Val) c.1387T>G (p.Phe463Val) c.1033T>G (p.Phe345Val) | |
| 1 | g.154465367T>A | CA1129367 | IL6R | c.1394T>A (p.Phe465Tyr) c.*202T>A (n.*202T>A) c.*75T>A (n.*75T>A) c.*235T>A (n.*235T>A) c.1442T>A (p.Phe481Tyr) c.1541T>A (p.Phe514Tyr) c.1493T>A (p.Phe498Tyr) c.1487T>A (p.Phe496Tyr) c.1388T>A (p.Phe463Tyr) c.1034T>A (p.Phe345Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465367T>C | CA342628851 | IL6R | c.1394T>C (p.Phe465Ser) c.*202T>C (n.*202T>C) c.*75T>C (n.*75T>C) c.*235T>C (n.*235T>C) c.1442T>C (p.Phe481Ser) c.1541T>C (p.Phe514Ser) c.1493T>C (p.Phe498Ser) c.1487T>C (p.Phe496Ser) c.1388T>C (p.Phe463Ser) c.1034T>C (p.Phe345Ser) | |
| 1 | g.154465367T>G | CA342628854 | IL6R | c.1394T>G (p.Phe465Cys) c.*202T>G (n.*202T>G) c.*75T>G (n.*75T>G) c.*235T>G (n.*235T>G) c.1442T>G (p.Phe481Cys) c.1541T>G (p.Phe514Cys) c.1493T>G (p.Phe498Cys) c.1487T>G (p.Phe496Cys) c.1388T>G (p.Phe463Cys) c.1034T>G (p.Phe345Cys) | |
| 1 | g.154465367T= | CA2480880350 | IL6R | c.1394T= (p.Phe465=) c.*202T= (n.*202T=) c.*75T= (n.*75T=) c.*235T= (n.*235T=) c.1442T= (p.Phe481=) c.1541T= (p.Phe514=) c.1493T= (p.Phe498=) c.1487T= (p.Phe496=) c.1388T= (p.Phe463=) c.1034T= (p.Phe345=) | |
| 1 | g.154465368C>A | CA342628855 | IL6R | c.1395C>A (p.Phe465Leu) c.*203C>A (n.*203C>A) c.*76C>A (n.*76C>A) c.*236C>A (n.*236C>A) c.1443C>A (p.Phe481Leu) c.1542C>A (p.Phe514Leu) c.1494C>A (p.Phe498Leu) c.1488C>A (p.Phe496Leu) c.1389C>A (p.Phe463Leu) c.1035C>A (p.Phe345Leu) | |
| 1 | g.154465368C>G | CA342628857 | IL6R | c.1395C>G (p.Phe465Leu) c.*203C>G (n.*203C>G) c.*76C>G (n.*76C>G) c.*236C>G (n.*236C>G) c.1443C>G (p.Phe481Leu) c.1542C>G (p.Phe514Leu) c.1494C>G (p.Phe498Leu) c.1488C>G (p.Phe496Leu) c.1389C>G (p.Phe463Leu) c.1035C>G (p.Phe345Leu) | |
| 1 | g.154465368C>T | CA420976046 | IL6R | c.1395C>T (p.Phe465=) c.*203C>T (n.*203C>T) c.*76C>T (n.*76C>T) c.*236C>T (n.*236C>T) c.1443C>T (p.Phe481=) c.1542C>T (p.Phe514=) c.1494C>T (p.Phe498=) c.1488C>T (p.Phe496=) c.1389C>T (p.Phe463=) c.1035C>T (p.Phe345=) | |
| 1 | g.154465369T>A | CA342628860 | IL6R | c.1396T>A (p.Phe466Ile) c.*204T>A (n.*204T>A) c.*77T>A (n.*77T>A) c.*237T>A (n.*237T>A) c.1444T>A (p.Phe482Ile) c.1543T>A (p.Phe515Ile) c.1495T>A (p.Phe499Ile) c.1489T>A (p.Phe497Ile) c.1390T>A (p.Phe464Ile) c.1036T>A (p.Phe346Ile) | |
| 1 | g.154465369T>C | CA342628861 | IL6R | c.1396T>C (p.Phe466Leu) c.*204T>C (n.*204T>C) c.*77T>C (n.*77T>C) c.*237T>C (n.*237T>C) c.1444T>C (p.Phe482Leu) c.1543T>C (p.Phe515Leu) c.1495T>C (p.Phe499Leu) c.1489T>C (p.Phe497Leu) c.1390T>C (p.Phe464Leu) c.1036T>C (p.Phe346Leu) | |
| 1 | g.154465369T>G | CA342628863 | IL6R | c.1396T>G (p.Phe466Val) c.*204T>G (n.*204T>G) c.*77T>G (n.*77T>G) c.*237T>G (n.*237T>G) c.1444T>G (p.Phe482Val) c.1543T>G (p.Phe515Val) c.1495T>G (p.Phe499Val) c.1489T>G (p.Phe497Val) c.1390T>G (p.Phe464Val) c.1036T>G (p.Phe346Val) | |
| 1 | g.154465370T>A | CA342628869 | IL6R | c.1397T>A (p.Phe466Tyr) c.*205T>A (n.*205T>A) c.*78T>A (n.*78T>A) c.*238T>A (n.*238T>A) c.1445T>A (p.Phe482Tyr) c.1544T>A (p.Phe515Tyr) c.1496T>A (p.Phe499Tyr) c.1490T>A (p.Phe497Tyr) c.1391T>A (p.Phe464Tyr) c.1037T>A (p.Phe346Tyr) | |
| 1 | g.154465370T>C | CA342628867 | IL6R | c.1397T>C (p.Phe466Ser) c.*205T>C (n.*205T>C) c.*78T>C (n.*78T>C) c.*238T>C (n.*238T>C) c.1445T>C (p.Phe482Ser) c.1544T>C (p.Phe515Ser) c.1496T>C (p.Phe499Ser) c.1490T>C (p.Phe497Ser) c.1391T>C (p.Phe464Ser) c.1037T>C (p.Phe346Ser) | |
| 1 | g.154465370T>G | CA342628866 | IL6R | c.1397T>G (p.Phe466Cys) c.*205T>G (n.*205T>G) c.*78T>G (n.*78T>G) c.*238T>G (n.*238T>G) c.1445T>G (p.Phe482Cys) c.1544T>G (p.Phe515Cys) c.1496T>G (p.Phe499Cys) c.1490T>G (p.Phe497Cys) c.1391T>G (p.Phe464Cys) c.1037T>G (p.Phe346Cys) | |
| 1 | g.154465370_154465371delinsTC | CA2480880351 | IL6R | c.1397_1398delinsTC (p.Phe466=) c.*205_*206delinsTC (n.*205_*206delinsTC) c.*78_*79delinsTC (n.*78_*79delinsTC) c.*238_*239delinsTC (n.*238_*239delinsTC) c.1445_1446delinsTC (p.Phe482=) c.1544_1545delinsTC (p.Phe515=) c.1496_1497delinsTC (p.Phe499=) c.1490_1491delinsTC (p.Phe497=) c.1391_1392delinsTC (p.Phe464=) c.1037_1038delinsTC (p.Phe346=) | |
| 1 | g.154465371C>A | CA342628872 | IL6R | c.1398C>A (p.Phe466Leu) c.*206C>A (n.*206C>A) c.*79C>A (n.*79C>A) c.*239C>A (n.*239C>A) c.1446C>A (p.Phe482Leu) c.1545C>A (p.Phe515Leu) c.1497C>A (p.Phe499Leu) c.1491C>A (p.Phe497Leu) c.1392C>A (p.Phe464Leu) c.1038C>A (p.Phe346Leu) | |
| 1 | g.154465371C= | CA1145199300 | IL6R | c.1398C= (p.Phe466=) c.*206C= (n.*206C=) c.*79C= (n.*79C=) c.*239C= (n.*239C=) c.1446C= (p.Phe482=) c.1545C= (p.Phe515=) c.1497C= (p.Phe499=) c.1491C= (p.Phe497=) c.1392C= (p.Phe464=) c.1038C= (p.Phe346=) | |
| 1 | g.154465371C>G | CA342628875 | IL6R | c.1398C>G (p.Phe466Leu) c.*206C>G (n.*206C>G) c.*79C>G (n.*79C>G) c.*239C>G (n.*239C>G) c.1446C>G (p.Phe482Leu) c.1545C>G (p.Phe515Leu) c.1497C>G (p.Phe499Leu) c.1491C>G (p.Phe497Leu) c.1392C>G (p.Phe464Leu) c.1038C>G (p.Phe346Leu) | |
| 1 | g.154465371C>T | CA1129368 | IL6R | c.1398C>T (p.Phe466=) c.*206C>T (n.*206C>T) c.*79C>T (n.*79C>T) c.*239C>T (n.*239C>T) c.1446C>T (p.Phe482=) c.1545C>T (p.Phe515=) c.1497C>T (p.Phe499=) c.1491C>T (p.Phe497=) c.1392C>T (p.Phe464=) c.1038C>T (p.Phe346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465374dup | CA645533236 | IL6R | c.1401dup (p.Arg468GlnfsTer?) c.*209dup (n.*209dup) c.*82dup (n.*82dup) c.*242dup (n.*242dup) c.1449dup (p.Arg484GlnfsTer?) c.1548dup (p.Arg517GlnfsTer?) c.1500dup (p.Arg501GlnfsTer?) c.1494dup (p.Arg499GlnfsTer?) c.1395dup (p.Arg466GlnfsTer?) c.1041dup (p.Arg348GlnfsTer?) | COSMIC |
| 1 | g.154465374del | CA916314993 | IL6R | c.1401del (p.Arg468AspfsTer?) c.*209del (n.*209del) c.*82del (n.*82del) c.*242del (n.*242del) c.1449del (p.Arg484AspfsTer?) c.1548del (p.Arg517AspfsTer?) c.1500del (p.Arg501AspfsTer?) c.1494del (p.Arg499AspfsTer?) c.1395del (p.Arg466AspfsTer?) c.1041del (p.Arg348AspfsTer?) | dbSNP |
| 1 | g.154465372C>A | CA342628878 | IL6R | c.1399C>A (p.Pro467Thr) c.*207C>A (n.*207C>A) c.*80C>A (n.*80C>A) c.*240C>A (n.*240C>A) c.1447C>A (p.Pro483Thr) c.1546C>A (p.Pro516Thr) c.1498C>A (p.Pro500Thr) c.1492C>A (p.Pro498Thr) c.1393C>A (p.Pro465Thr) c.1039C>A (p.Pro347Thr) | |
| 1 | g.154465372C= | CA2480880352 | IL6R | c.1399C= (p.Pro467=) c.*207C= (n.*207C=) c.*80C= (n.*80C=) c.*240C= (n.*240C=) c.1447C= (p.Pro483=) c.1546C= (p.Pro516=) c.1498C= (p.Pro500=) c.1492C= (p.Pro498=) c.1393C= (p.Pro465=) c.1039C= (p.Pro347=) | |
| 1 | g.154465372C>G | CA342628882 | IL6R | c.1399C>G (p.Pro467Ala) c.*207C>G (n.*207C>G) c.*80C>G (n.*80C>G) c.*240C>G (n.*240C>G) c.1447C>G (p.Pro483Ala) c.1546C>G (p.Pro516Ala) c.1498C>G (p.Pro500Ala) c.1492C>G (p.Pro498Ala) c.1393C>G (p.Pro465Ala) c.1039C>G (p.Pro347Ala) | |
| 1 | g.154465372C>T | CA342628880 | IL6R | c.1399C>T (p.Pro467Ser) c.*207C>T (n.*207C>T) c.*80C>T (n.*80C>T) c.*240C>T (n.*240C>T) c.1447C>T (p.Pro483Ser) c.1546C>T (p.Pro516Ser) c.1498C>T (p.Pro500Ser) c.1492C>T (p.Pro498Ser) c.1393C>T (p.Pro465Ser) c.1039C>T (p.Pro347Ser) | dbSNP |
| 1 | g.154465373C>A | CA342628884 | IL6R | c.1400C>A (p.Pro467His) c.*208C>A (n.*208C>A) c.*81C>A (n.*81C>A) c.*241C>A (n.*241C>A) c.1448C>A (p.Pro483His) c.1547C>A (p.Pro516His) c.1499C>A (p.Pro500His) c.1493C>A (p.Pro498His) c.1394C>A (p.Pro465His) c.1040C>A (p.Pro347His) | |
| 1 | g.154465373C>G | CA342628888 | IL6R | c.1400C>G (p.Pro467Arg) c.*208C>G (n.*208C>G) c.*81C>G (n.*81C>G) c.*241C>G (n.*241C>G) c.1448C>G (p.Pro483Arg) c.1547C>G (p.Pro516Arg) c.1499C>G (p.Pro500Arg) c.1493C>G (p.Pro498Arg) c.1394C>G (p.Pro465Arg) c.1040C>G (p.Pro347Arg) | |
| 1 | g.154465373C>T | CA342628886 | IL6R | c.1400C>T (p.Pro467Leu) c.*208C>T (n.*208C>T) c.*81C>T (n.*81C>T) c.*241C>T (n.*241C>T) c.1448C>T (p.Pro483Leu) c.1547C>T (p.Pro516Leu) c.1499C>T (p.Pro500Leu) c.1493C>T (p.Pro498Leu) c.1394C>T (p.Pro465Leu) c.1040C>T (p.Pro347Leu) | |
| 1 | g.154465374C>A | CA420976047 | IL6R | c.1401C>A (p.Pro467=) c.*209C>A (n.*209C>A) c.*82C>A (n.*82C>A) c.*242C>A (n.*242C>A) c.1449C>A (p.Pro483=) c.1548C>A (p.Pro516=) c.1500C>A (p.Pro500=) c.1494C>A (p.Pro498=) c.1395C>A (p.Pro465=) c.1041C>A (p.Pro347=) | |
| 1 | g.154465374C>G | CA420976048 | IL6R | c.1401C>G (p.Pro467=) c.*209C>G (n.*209C>G) c.*82C>G (n.*82C>G) c.*242C>G (n.*242C>G) c.1449C>G (p.Pro483=) c.1548C>G (p.Pro516=) c.1500C>G (p.Pro500=) c.1494C>G (p.Pro498=) c.1395C>G (p.Pro465=) c.1041C>G (p.Pro347=) | |
| 1 | g.154465374C>T | CA420976049 | IL6R | c.1401C>T (p.Pro467=) c.*209C>T (n.*209C>T) c.*82C>T (n.*82C>T) c.*242C>T (n.*242C>T) c.1449C>T (p.Pro483=) c.1548C>T (p.Pro516=) c.1500C>T (p.Pro500=) c.1494C>T (p.Pro498=) c.1395C>T (p.Pro465=) c.1041C>T (p.Pro347=) | gnomAD v4 |
| 1 | g.154465375A>C | CA420976050 | IL6R | c.1402A>C (p.Arg468=) c.*210A>C (n.*210A>C) c.*83A>C (n.*83A>C) c.*243A>C (n.*243A>C) c.1450A>C (p.Arg484=) c.1549A>C (p.Arg517=) c.1501A>C (p.Arg501=) c.1495A>C (p.Arg499=) c.1396A>C (p.Arg466=) c.1042A>C (p.Arg348=) | |
| 1 | g.154465375A>G | CA342628890 | IL6R | c.1402A>G (p.Arg468Gly) c.*210A>G (n.*210A>G) c.*83A>G (n.*83A>G) c.*243A>G (n.*243A>G) c.1450A>G (p.Arg484Gly) c.1549A>G (p.Arg517Gly) c.1501A>G (p.Arg501Gly) c.1495A>G (p.Arg499Gly) c.1396A>G (p.Arg466Gly) c.1042A>G (p.Arg348Gly) | |
| 1 | g.154465375A>T | CA342628892 | IL6R | c.1402A>T (p.Arg468Ter) c.*210A>T (n.*210A>T) c.*83A>T (n.*83A>T) c.*243A>T (n.*243A>T) c.1450A>T (p.Arg484Ter) c.1549A>T (p.Arg517Ter) c.1501A>T (p.Arg501Ter) c.1495A>T (p.Arg499Ter) c.1396A>T (p.Arg466Ter) c.1042A>T (p.Arg348Ter) | |
| 1 | g.154465376G>A | CA342628894 | IL6R | c.1403G>A (p.Arg468Lys) c.*211G>A (n.*211G>A) c.*84G>A (n.*84G>A) c.*244G>A (n.*244G>A) c.1451G>A (p.Arg484Lys) c.1550G>A (p.Arg517Lys) c.1502G>A (p.Arg501Lys) c.1496G>A (p.Arg499Lys) c.1397G>A (p.Arg466Lys) c.1043G>A (p.Arg348Lys) | |
| 1 | g.154465376G>C | CA30816667 | IL6R | c.1403G>C (p.Arg468Thr) c.*211G>C (n.*211G>C) c.*84G>C (n.*84G>C) c.*244G>C (n.*244G>C) c.1451G>C (p.Arg484Thr) c.1550G>C (p.Arg517Thr) c.1502G>C (p.Arg501Thr) c.1496G>C (p.Arg499Thr) c.1397G>C (p.Arg466Thr) c.1043G>C (p.Arg348Thr) | dbSNP |
| 1 | g.154465376G= | CA2480880353 | IL6R | c.1403G= (p.Arg468=) c.*211G= (n.*211G=) c.*84G= (n.*84G=) c.*244G= (n.*244G=) c.1451G= (p.Arg484=) c.1550G= (p.Arg517=) c.1502G= (p.Arg501=) c.1496G= (p.Arg499=) c.1397G= (p.Arg466=) c.1043G= (p.Arg348=) | |
| 1 | g.154465376G>T | CA342628898 | IL6R | c.1403G>T (p.Arg468Ile) c.*211G>T (n.*211G>T) c.*84G>T (n.*84G>T) c.*244G>T (n.*244G>T) c.1451G>T (p.Arg484Ile) c.1550G>T (p.Arg517Ile) c.1502G>T (p.Arg501Ile) c.1496G>T (p.Arg499Ile) c.1397G>T (p.Arg466Ile) c.1043G>T (p.Arg348Ile) | |
| 1 | g.154465376_154465393delinsGATAGCTGGCTGGGTGGC | CA2480880354 | IL6R | c.1403_*13delinsGATAGCTGGCTGGGTGGC (n.[c.1403_*13delinsGATAGCTGGCTGGGTGGC;Arg468=]) c.*211_*228delinsGATAGCTGGCTGGGTGGC (n.*211_*228delinsGATAGCTGGCTGGGTGGC) c.*84_*101delinsGATAGCTGGCTGGGTGGC (n.*84_*101delinsGATAGCTGGCTGGGTGGC) c.*244_*261delinsGATAGCTGGCTGGGTGGC (n.*244_*261delinsGATAGCTGGCTGGGTGGC) c.1451_*13delinsGATAGCTGGCTGGGTGGC (n.[c.1451_*13delinsGATAGCTGGCTGGGTGGC;Arg484=]) c.1550_*13delinsGATAGCTGGCTGGGTGGC (n.[c.1550_*13delinsGATAGCTGGCTGGGTGGC;Arg517=]) c.1502_*13delinsGATAGCTGGCTGGGTGGC (n.[c.1502_*13delinsGATAGCTGGCTGGGTGGC;Arg501=]) c.1496_*13delinsGATAGCTGGCTGGGTGGC (n.[c.1496_*13delinsGATAGCTGGCTGGGTGGC;Arg499=]) c.1397_*13delinsGATAGCTGGCTGGGTGGC (n.[c.1397_*13delinsGATAGCTGGCTGGGTGGC;Arg466=]) c.1043_*13delinsGATAGCTGGCTGGGTGGC (n.[c.1043_*13delinsGATAGCTGGCTGGGTGGC;Arg348=]) | |
| 1 | g.154465377A>C | CA342628900 | IL6R | c.1404A>C (p.Arg468Ser) c.*212A>C (n.*212A>C) c.*85A>C (n.*85A>C) c.*245A>C (n.*245A>C) c.1452A>C (p.Arg484Ser) c.1551A>C (p.Arg517Ser) c.1503A>C (p.Arg501Ser) c.1497A>C (p.Arg499Ser) c.1398A>C (p.Arg466Ser) c.1044A>C (p.Arg348Ser) | |
| 1 | g.154465377A>G | CA420976051 | IL6R | c.1404A>G (p.Arg468=) c.*212A>G (n.*212A>G) c.*85A>G (n.*85A>G) c.*245A>G (n.*245A>G) c.1452A>G (p.Arg484=) c.1551A>G (p.Arg517=) c.1503A>G (p.Arg501=) c.1497A>G (p.Arg499=) c.1398A>G (p.Arg466=) c.1044A>G (p.Arg348=) | |
| 1 | g.154465377A>T | CA342628902 | IL6R | c.1404A>T (p.Arg468Ser) c.*212A>T (n.*212A>T) c.*85A>T (n.*85A>T) c.*245A>T (n.*245A>T) c.1452A>T (p.Arg484Ser) c.1551A>T (p.Arg517Ser) c.1503A>T (p.Arg501Ser) c.1497A>T (p.Arg499Ser) c.1398A>T (p.Arg466Ser) c.1044A>T (p.Arg348Ser) | |
| 1 | g.154465378_154465394del | CA2480880355 | IL6R | c.1405_*14del (n.[c.1405_*14del;Ter469ProextTer?]) c.*213_*229del (n.*213_*229del) c.*86_*102del (n.*86_*102del) c.*246_*262del (n.*246_*262del) c.1453_*14del (n.[c.1453_*14del;Ter485ProextTer?]) c.1552_*14del (n.[c.1552_*14del;Ter518ProextTer?]) c.1504_*14del (n.[c.1504_*14del;Ter502ProextTer?]) c.1498_*14del (n.[c.1498_*14del;Ter500ProextTer?]) c.1399_*14del (n.[c.1399_*14del;Ter467ProextTer?]) c.1045_*14del (n.[c.1045_*14del;Ter349ProextTer?]) | dbSNP |
| 1 | g.154465378T>A | CA342628905 | IL6R | c.1405T>A (p.Ter469Lys) c.*213T>A (n.*213T>A) c.*86T>A (n.*86T>A) c.*246T>A (n.*246T>A) c.1453T>A (p.Ter485Lys) c.1552T>A (p.Ter518Lys) c.1504T>A (p.Ter502Lys) c.1498T>A (p.Ter500Lys) c.1399T>A (p.Ter467Lys) c.1045T>A (p.Ter349Lys) | |
| 1 | g.154465378T>C | CA342628906 | IL6R | c.1405T>C (p.Ter469Gln) c.*213T>C (n.*213T>C) c.*86T>C (n.*86T>C) c.*246T>C (n.*246T>C) c.1453T>C (p.Ter485Gln) c.1552T>C (p.Ter518Gln) c.1504T>C (p.Ter502Gln) c.1498T>C (p.Ter500Gln) c.1399T>C (p.Ter467Gln) c.1045T>C (p.Ter349Gln) | |
| 1 | g.154465378T>G | CA342628909 | IL6R | c.1405T>G (p.Ter469Glu) c.*213T>G (n.*213T>G) c.*86T>G (n.*86T>G) c.*246T>G (n.*246T>G) c.1453T>G (p.Ter485Glu) c.1552T>G (p.Ter518Glu) c.1504T>G (p.Ter502Glu) c.1498T>G (p.Ter500Glu) c.1399T>G (p.Ter467Glu) c.1045T>G (p.Ter349Glu) | gnomAD v4 |
| 1 | g.154465379A= | CA2480880356 | IL6R | c.1406A= (p.Ter469=) c.*214A= (n.*214A=) c.*87A= (n.*87A=) c.*247A= (n.*247A=) c.1454A= (p.Ter485=) c.1553A= (p.Ter518=) c.1505A= (p.Ter502=) c.1499A= (p.Ter500=) c.1400A= (p.Ter467=) c.1046A= (p.Ter349=) | |
| 1 | g.154465379A>C | CA342628911 | IL6R | c.1406A>C (p.Ter469Ser) c.*214A>C (n.*214A>C) c.*87A>C (n.*87A>C) c.*247A>C (n.*247A>C) c.1454A>C (p.Ter485Ser) c.1553A>C (p.Ter518Ser) c.1505A>C (p.Ter502Ser) c.1499A>C (p.Ter500Ser) c.1400A>C (p.Ter467Ser) c.1046A>C (p.Ter349Ser) | |
| 1 | g.154465379A>G | CA30816672 | IL6R | c.1406A>G (p.Ter469Trp) c.*214A>G (n.*214A>G) c.*87A>G (n.*87A>G) c.*247A>G (n.*247A>G) c.1454A>G (p.Ter485Trp) c.1553A>G (p.Ter518Trp) c.1505A>G (p.Ter502Trp) c.1499A>G (p.Ter500Trp) c.1400A>G (p.Ter467Trp) c.1046A>G (p.Ter349Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.154465379A>T | CA342628914 | IL6R | c.1406A>T (p.Ter469Leu) c.*214A>T (n.*214A>T) c.*87A>T (n.*87A>T) c.*247A>T (n.*247A>T) c.1454A>T (p.Ter485Leu) c.1553A>T (p.Ter518Leu) c.1505A>T (p.Ter502Leu) c.1499A>T (p.Ter500Leu) c.1400A>T (p.Ter467Leu) c.1046A>T (p.Ter349Leu) | |
| 1 | g.154465380G>A | CA420976052 | IL6R | c.1407G>A (p.Ter469=) c.*215G>A (n.*215G>A) c.*88G>A (n.*88G>A) c.*248G>A (n.*248G>A) c.1455G>A (p.Ter485=) c.1554G>A (p.Ter518=) c.1506G>A (p.Ter502=) c.1500G>A (p.Ter500=) c.1401G>A (p.Ter467=) c.1047G>A (p.Ter349=) | gnomAD v4 |
| 1 | g.154465380G>C | CA342628916 | IL6R | c.1407G>C (p.Ter469Tyr) c.*215G>C (n.*215G>C) c.*88G>C (n.*88G>C) c.*248G>C (n.*248G>C) c.1455G>C (p.Ter485Tyr) c.1554G>C (p.Ter518Tyr) c.1506G>C (p.Ter502Tyr) c.1500G>C (p.Ter500Tyr) c.1401G>C (p.Ter467Tyr) c.1047G>C (p.Ter349Tyr) | gnomAD v4 |
| 1 | g.154465380G>T | CA342628918 | IL6R | c.1407G>T (p.Ter469Tyr) c.*215G>T (n.*215G>T) c.*88G>T (n.*88G>T) c.*248G>T (n.*248G>T) c.1455G>T (p.Ter485Tyr) c.1554G>T (p.Ter518Tyr) c.1506G>T (p.Ter502Tyr) c.1500G>T (p.Ter500Tyr) c.1401G>T (p.Ter467Tyr) c.1047G>T (p.Ter349Tyr) | |
| 1 | g.154465382T>C | CA2648156790 | IL6R | c.*2T>C (n.*2T>C) c.*217T>C (n.*217T>C) c.*90T>C (n.*90T>C) c.*250T>C (n.*250T>C) | gnomAD v4 |
| 1 | g.154465384G>A | CA2648156791 | IL6R | c.*4G>A (n.*4G>A) c.*219G>A (n.*219G>A) c.*92G>A (n.*92G>A) c.*252G>A (n.*252G>A) | gnomAD v4 |
| 1 | g.154465385C>T | CA2648156792 | IL6R | c.*5C>T (n.*5C>T) c.*220C>T (n.*220C>T) c.*93C>T (n.*93C>T) c.*253C>T (n.*253C>T) | gnomAD v4 |
| 1 | g.154465388G= | CA2480880357 | IL6R | c.*8G= (n.*8G=) c.*223G= (n.*223G=) c.*96G= (n.*96G=) c.*256G= (n.*256G=) | |
| 1 | g.154465388G>T | CA30816678 | IL6R | c.*8G>T (n.*8G>T) c.*223G>T (n.*223G>T) c.*96G>T (n.*96G>T) c.*256G>T (n.*256G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.154465389G>A | CA2480880359 | IL6R | c.*9G>A (n.*9G>A) c.*224G>A (n.*224G>A) c.*97G>A (n.*97G>A) c.*257G>A (n.*257G>A) | dbSNP |
| 1 | g.154465389G= | CA2480880358 | IL6R | c.*9G= (n.*9G=) c.*224G= (n.*224G=) c.*97G= (n.*97G=) c.*257G= (n.*257G=) | |
| 1 | g.154465390T>G | CA2697500774 | IL6R | c.*10T>G (n.*10T>G) c.*225T>G (n.*225T>G) c.*98T>G (n.*98T>G) c.*258T>G (n.*258T>G) | dbSNP |
| 1 | g.154465390T= | CA2480880360 | IL6R | c.*10T= (n.*10T=) c.*225T= (n.*225T=) c.*98T= (n.*98T=) c.*258T= (n.*258T=) | |
| 1 | g.154465391_154465408dup | CA2480880361 | IL6R | c.*11_*28dup (n.*11_*28dup) c.*226_*243dup (n.*226_*243dup) c.*99_*116dup (n.*99_*116dup) c.*259_*276dup (n.*259_*276dup) | dbSNP |
| 1 | g.154465392G>C | CA2648156793 | IL6R | c.*12G>C (n.*12G>C) c.*227G>C (n.*227G>C) c.*100G>C (n.*100G>C) c.*260G>C (n.*260G>C) | gnomAD v4 |
| 1 | g.154465392G>T | CA2746186213 | IL6R | c.*12G>T (n.*12G>T) c.*227G>T (n.*227G>T) c.*100G>T (n.*100G>T) c.*260G>T (n.*260G>T) | |
| 1 | g.154465396C= | CA2480880362 | IL6R | c.*16C= (n.*16C=) c.*231C= (n.*231C=) c.*104C= (n.*104C=) c.*264C= (n.*264C=) | |
| 1 | g.154465396C>T | CA2480880363 | IL6R | c.*16C>T (n.*16C>T) c.*231C>T (n.*231C>T) c.*104C>T (n.*104C>T) c.*264C>T (n.*264C>T) | dbSNP gnomAD v4 |
| 1 | g.154465397A>G | CA2746186214 | IL6R | c.*17A>G (n.*17A>G) c.*232A>G (n.*232A>G) c.*105A>G (n.*105A>G) c.*265A>G (n.*265A>G) | |
| 1 | g.154465398G>A | CA1129369 | IL6R | c.*18G>A (n.*18G>A) c.*233G>A (n.*233G>A) c.*106G>A (n.*106G>A) c.*266G>A (n.*266G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465398G= | CA2480880364 | IL6R | c.*18G= (n.*18G=) c.*233G= (n.*233G=) c.*106G= (n.*106G=) c.*266G= (n.*266G=) | |
| 1 | g.154465399_154465406delinsCAGCCTGG | CA2480880365 | IL6R | c.*19_*26delinsCAGCCTGG (n.*19_*26delinsCAGCCTGG) c.*234_*241delinsCAGCCTGG (n.*234_*241delinsCAGCCTGG) c.*107_*114delinsCAGCCTGG (n.*107_*114delinsCAGCCTGG) c.*267_*274delinsCAGCCTGG (n.*267_*274delinsCAGCCTGG) | |
| 1 | g.154465400A>G | CA2648156794 | IL6R | c.*20A>G (n.*20A>G) c.*235A>G (n.*235A>G) c.*108A>G (n.*108A>G) c.*268A>G (n.*268A>G) | gnomAD v4 |
| 1 | g.154465401_154465407del | CA2480880366 | IL6R | c.*21_*27del (n.*21_*27del) c.*236_*242del (n.*236_*242del) c.*109_*115del (n.*109_*115del) c.*269_*275del (n.*269_*275del) | dbSNP |
| 1 | g.154465401G>A | CA2648156795 | IL6R | c.*21G>A (n.*21G>A) c.*236G>A (n.*236G>A) c.*109G>A (n.*109G>A) c.*269G>A (n.*269G>A) | gnomAD v4 |
| 1 | g.154465401G>C | CA2648156796 | IL6R | c.*21G>C (n.*21G>C) c.*236G>C (n.*236G>C) c.*109G>C (n.*109G>C) c.*269G>C (n.*269G>C) | gnomAD v4 |
| 1 | g.154465402C>G | CA2648156797 | IL6R | c.*22C>G (n.*22C>G) c.*237C>G (n.*237C>G) c.*110C>G (n.*110C>G) c.*270C>G (n.*270C>G) | gnomAD v4 |
| 1 | g.154465402C>T | CA2648156798 | IL6R | c.*22C>T (n.*22C>T) c.*237C>T (n.*237C>T) c.*110C>T (n.*110C>T) c.*270C>T (n.*270C>T) | gnomAD v4 |
| 1 | g.154465403C= | CA2480880367 | IL6R | c.*23C= (n.*23C=) c.*238C= (n.*238C=) c.*111C= (n.*111C=) c.*271C= (n.*271C=) | |
| 1 | g.154465403C>T | CA1129370 | IL6R | c.*23C>T (n.*23C>T) c.*238C>T (n.*238C>T) c.*111C>T (n.*111C>T) c.*271C>T (n.*271C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.154465404T>A | CA30816698 | IL6R | c.*24T>A (n.*24T>A) c.*239T>A (n.*239T>A) c.*112T>A (n.*112T>A) c.*272T>A (n.*272T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465404T>C | CA2648156799 | IL6R | c.*24T>C (n.*24T>C) c.*239T>C (n.*239T>C) c.*112T>C (n.*112T>C) c.*272T>C (n.*272T>C) | gnomAD v4 |
| 1 | g.154465404T= | CA1146656219 | IL6R | c.*24T= (n.*24T=) c.*239T= (n.*239T=) c.*112T= (n.*112T=) c.*272T= (n.*272T=) | |
| 1 | g.154465405G>A | CA30816706 | IL6R | c.*25G>A (n.*25G>A) c.*240G>A (n.*240G>A) c.*113G>A (n.*113G>A) c.*273G>A (n.*273G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465405G= | CA2480880368 | IL6R | c.*25G= (n.*25G=) c.*240G= (n.*240G=) c.*113G= (n.*113G=) c.*273G= (n.*273G=) | |
| 1 | g.154465408C>A | CA2648156800 | IL6R | c.*28C>A (n.*28C>A) c.*243C>A (n.*243C>A) c.*116C>A (n.*116C>A) c.*276C>A (n.*276C>A) | gnomAD v4 |