Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.154465274_154465275insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC | CA2604852919 | IL6R | c.1301_1302insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (p.Ser435AspfsTer25) c.*109_*110insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (n.*109_*110insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC) n.499_500insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC c.1065_1066insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (p.Gln356ArgfsTer?) c.*142_*143insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (n.*142_*143insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC) c.1349_1350insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (p.Ser451AspfsTer25) c.1448_1449insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (p.Ser484AspfsTer25) c.1400_1401insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (p.Ser468AspfsTer25) c.1394_1395insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (p.Ser466AspfsTer25) c.1295_1296insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (p.Ser433AspfsTer25) c.941_942insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (p.Ser315AspfsTer25) | gnomAD v3 gnomAD v4 |
1 | g.154465243C>A | CA342628545 | IL6R | c.1270C>A (p.Leu424Ile) c.*78C>A (n.*78C>A) n.583C>A n.468C>A c.1034C>A (p.Ala345Asp) c.*111C>A (n.*111C>A) c.1318C>A (p.Leu440Ile) c.1417C>A (p.Leu473Ile) c.1369C>A (p.Leu457Ile) c.1363C>A (p.Leu455Ile) c.1264C>A (p.Leu422Ile) c.910C>A (p.Leu304Ile) | |
1 | g.154465243C= | CA1141952646 | IL6R | c.1270C= (p.Leu424=) c.*78C= (n.*78C=) n.583C= n.468C= c.1034C= (p.Ala345=) c.*111C= (n.*111C=) c.1318C= (p.Leu440=) c.1417C= (p.Leu473=) c.1369C= (p.Leu457=) c.1363C= (p.Leu455=) c.1264C= (p.Leu422=) c.910C= (p.Leu304=) | |
1 | g.154465243C>G | CA342628546 | IL6R | c.1270C>G (p.Leu424Val) c.*78C>G (n.*78C>G) n.583C>G n.468C>G c.1034C>G (p.Ala345Gly) c.*111C>G (n.*111C>G) c.1318C>G (p.Leu440Val) c.1417C>G (p.Leu473Val) c.1369C>G (p.Leu457Val) c.1363C>G (p.Leu455Val) c.1264C>G (p.Leu422Val) c.910C>G (p.Leu304Val) | |
1 | g.154465243C>T | CA1129336 | IL6R | c.1270C>T (p.Leu424Phe) c.*78C>T (n.*78C>T) n.583C>T n.468C>T c.1034C>T (p.Ala345Val) c.*111C>T (n.*111C>T) c.1318C>T (p.Leu440Phe) c.1417C>T (p.Leu473Phe) c.1369C>T (p.Leu457Phe) c.1363C>T (p.Leu455Phe) c.1264C>T (p.Leu422Phe) c.910C>T (p.Leu304Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465244T>A | CA342628547 | IL6R | c.1271T>A (p.Leu424His) c.*79T>A (n.*79T>A) n.584T>A n.469T>A c.1035T>A (p.Ala345=) c.*112T>A (n.*112T>A) c.1319T>A (p.Leu440His) c.1418T>A (p.Leu473His) c.1370T>A (p.Leu457His) c.1364T>A (p.Leu455His) c.1265T>A (p.Leu422His) c.911T>A (p.Leu304His) | |
1 | g.154465244T>C | CA342628549 | IL6R | c.1271T>C (p.Leu424Pro) c.*79T>C (n.*79T>C) n.584T>C n.469T>C c.1035T>C (p.Ala345=) c.*112T>C (n.*112T>C) c.1319T>C (p.Leu440Pro) c.1418T>C (p.Leu473Pro) c.1370T>C (p.Leu457Pro) c.1364T>C (p.Leu455Pro) c.1265T>C (p.Leu422Pro) c.911T>C (p.Leu304Pro) | |
1 | g.154465244T>G | CA342628548 | IL6R | c.1271T>G (p.Leu424Arg) c.*79T>G (n.*79T>G) n.584T>G n.469T>G c.1035T>G (p.Ala345=) c.*112T>G (n.*112T>G) c.1319T>G (p.Leu440Arg) c.1418T>G (p.Leu473Arg) c.1370T>G (p.Leu457Arg) c.1364T>G (p.Leu455Arg) c.1265T>G (p.Leu422Arg) c.911T>G (p.Leu304Arg) | |
1 | g.154465245T>A | CA420975957 | IL6R | c.1272T>A (p.Leu424=) c.*80T>A (n.*80T>A) n.585T>A n.470T>A c.1036T>A (p.Cys346Ser) c.*113T>A (n.*113T>A) c.1320T>A (p.Leu440=) c.1419T>A (p.Leu473=) c.1371T>A (p.Leu457=) c.1365T>A (p.Leu455=) c.1266T>A (p.Leu422=) c.912T>A (p.Leu304=) | |
1 | g.154465245T>C | CA420975958 | IL6R | c.1272T>C (p.Leu424=) c.*80T>C (n.*80T>C) n.585T>C n.470T>C c.1036T>C (p.Cys346Arg) c.*113T>C (n.*113T>C) c.1320T>C (p.Leu440=) c.1419T>C (p.Leu473=) c.1371T>C (p.Leu457=) c.1365T>C (p.Leu455=) c.1266T>C (p.Leu422=) c.912T>C (p.Leu304=) | |
1 | g.154465245T>G | CA420975959 | IL6R | c.1272T>G (p.Leu424=) c.*80T>G (n.*80T>G) n.585T>G n.470T>G c.1036T>G (p.Cys346Gly) c.*113T>G (n.*113T>G) c.1320T>G (p.Leu440=) c.1419T>G (p.Leu473=) c.1371T>G (p.Leu457=) c.1365T>G (p.Leu455=) c.1266T>G (p.Leu422=) c.912T>G (p.Leu304=) | |
1 | g.154465246G>A | CA342628550 | IL6R | c.1273G>A (p.Val425Ile) c.*81G>A (n.*81G>A) n.586G>A n.471G>A c.1037G>A (p.Cys346Tyr) c.*114G>A (n.*114G>A) c.1321G>A (p.Val441Ile) c.1420G>A (p.Val474Ile) c.1372G>A (p.Val458Ile) c.1366G>A (p.Val456Ile) c.1267G>A (p.Val423Ile) c.913G>A (p.Val305Ile) | dbSNP gnomAD v4 |
1 | g.154465246G>C | CA342628551 | IL6R | c.1273G>C (p.Val425Leu) c.*81G>C (n.*81G>C) n.586G>C n.471G>C c.1037G>C (p.Cys346Ser) c.*114G>C (n.*114G>C) c.1321G>C (p.Val441Leu) c.1420G>C (p.Val474Leu) c.1372G>C (p.Val458Leu) c.1366G>C (p.Val456Leu) c.1267G>C (p.Val423Leu) c.913G>C (p.Val305Leu) | gnomAD v4 |
1 | g.154465246G= | CA2480880298 | IL6R | c.1273G= (p.Val425=) c.*81G= (n.*81G=) n.586G= n.471G= c.1037G= (p.Cys346=) c.*114G= (n.*114G=) c.1321G= (p.Val441=) c.1420G= (p.Val474=) c.1372G= (p.Val458=) c.1366G= (p.Val456=) c.1267G= (p.Val423=) c.913G= (p.Val305=) | |
1 | g.154465246G>T | CA342628552 | IL6R | c.1273G>T (p.Val425Phe) c.*81G>T (n.*81G>T) n.586G>T n.471G>T c.1037G>T (p.Cys346Phe) c.*114G>T (n.*114G>T) c.1321G>T (p.Val441Phe) c.1420G>T (p.Val474Phe) c.1372G>T (p.Val458Phe) c.1366G>T (p.Val456Phe) c.1267G>T (p.Val423Phe) c.913G>T (p.Val305Phe) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154465247T>A | CA342628553 | IL6R | c.1274T>A (p.Val425Asp) c.*82T>A (n.*82T>A) n.587T>A n.472T>A c.1038T>A (p.Cys346Ter) c.*115T>A (n.*115T>A) c.1322T>A (p.Val441Asp) c.1421T>A (p.Val474Asp) c.1373T>A (p.Val458Asp) c.1367T>A (p.Val456Asp) c.1268T>A (p.Val423Asp) c.914T>A (p.Val305Asp) | |
1 | g.154465247T>C | CA342628554 | IL6R | c.1274T>C (p.Val425Ala) c.*82T>C (n.*82T>C) n.587T>C n.472T>C c.1038T>C (p.Cys346=) c.*115T>C (n.*115T>C) c.1322T>C (p.Val441Ala) c.1421T>C (p.Val474Ala) c.1373T>C (p.Val458Ala) c.1367T>C (p.Val456Ala) c.1268T>C (p.Val423Ala) c.914T>C (p.Val305Ala) | |
1 | g.154465247T>G | CA342628555 | IL6R | c.1274T>G (p.Val425Gly) c.*82T>G (n.*82T>G) n.587T>G n.472T>G c.1038T>G (p.Cys346Trp) c.*115T>G (n.*115T>G) c.1322T>G (p.Val441Gly) c.1421T>G (p.Val474Gly) c.1373T>G (p.Val458Gly) c.1367T>G (p.Val456Gly) c.1268T>G (p.Val423Gly) c.914T>G (p.Val305Gly) | |
1 | g.154465248T>A | CA420975962 | IL6R | c.1275T>A (p.Val425=) c.*83T>A (n.*83T>A) n.588T>A n.473T>A c.1039T>A (p.Ser347Thr) c.*116T>A (n.*116T>A) c.1323T>A (p.Val441=) c.1422T>A (p.Val474=) c.1374T>A (p.Val458=) c.1368T>A (p.Val456=) c.1269T>A (p.Val423=) c.915T>A (p.Val305=) | |
1 | g.154465248T>C | CA420975963 | IL6R | c.1275T>C (p.Val425=) c.*83T>C (n.*83T>C) n.588T>C n.473T>C c.1039T>C (p.Ser347Pro) c.*116T>C (n.*116T>C) c.1323T>C (p.Val441=) c.1422T>C (p.Val474=) c.1374T>C (p.Val458=) c.1368T>C (p.Val456=) c.1269T>C (p.Val423=) c.915T>C (p.Val305=) | |
1 | g.154465248T>G | CA420975964 | IL6R | c.1275T>G (p.Val425=) c.*83T>G (n.*83T>G) n.588T>G n.473T>G c.1039T>G (p.Ser347Ala) c.*116T>G (n.*116T>G) c.1323T>G (p.Val441=) c.1422T>G (p.Val474=) c.1374T>G (p.Val458=) c.1368T>G (p.Val456=) c.1269T>G (p.Val423=) c.915T>G (p.Val305=) | |
1 | g.154465249C>A | CA342628556 | IL6R | c.1276C>A (p.Pro426Thr) c.*84C>A (n.*84C>A) n.474C>A c.1040C>A (p.Ser347Tyr) c.*117C>A (n.*117C>A) c.1324C>A (p.Pro442Thr) c.1423C>A (p.Pro475Thr) c.1375C>A (p.Pro459Thr) c.1369C>A (p.Pro457Thr) c.1270C>A (p.Pro424Thr) c.916C>A (p.Pro306Thr) | |
1 | g.154465249C>G | CA342628557 | IL6R | c.1276C>G (p.Pro426Ala) c.*84C>G (n.*84C>G) n.474C>G c.1040C>G (p.Ser347Cys) c.*117C>G (n.*117C>G) c.1324C>G (p.Pro442Ala) c.1423C>G (p.Pro475Ala) c.1375C>G (p.Pro459Ala) c.1369C>G (p.Pro457Ala) c.1270C>G (p.Pro424Ala) c.916C>G (p.Pro306Ala) | |
1 | g.154465249C>T | CA342628558 | IL6R | c.1276C>T (p.Pro426Ser) c.*84C>T (n.*84C>T) n.474C>T c.1040C>T (p.Ser347Phe) c.*117C>T (n.*117C>T) c.1324C>T (p.Pro442Ser) c.1423C>T (p.Pro475Ser) c.1375C>T (p.Pro459Ser) c.1369C>T (p.Pro457Ser) c.1270C>T (p.Pro424Ser) c.916C>T (p.Pro306Ser) | |
1 | g.154465250C>A | CA342628560 | IL6R | c.1277C>A (p.Pro426His) c.*85C>A (n.*85C>A) n.475C>A c.1041C>A (p.Ser347=) c.*118C>A (n.*118C>A) c.1325C>A (p.Pro442His) c.1424C>A (p.Pro475His) c.1376C>A (p.Pro459His) c.1370C>A (p.Pro457His) c.1271C>A (p.Pro424His) c.917C>A (p.Pro306His) | |
1 | g.154465250C>G | CA342628561 | IL6R | c.1277C>G (p.Pro426Arg) c.*85C>G (n.*85C>G) n.475C>G c.1041C>G (p.Ser347=) c.*118C>G (n.*118C>G) c.1325C>G (p.Pro442Arg) c.1424C>G (p.Pro475Arg) c.1376C>G (p.Pro459Arg) c.1370C>G (p.Pro457Arg) c.1271C>G (p.Pro424Arg) c.917C>G (p.Pro306Arg) | |
1 | g.154465250C>T | CA342628559 | IL6R | c.1277C>T (p.Pro426Leu) c.*85C>T (n.*85C>T) n.475C>T c.1041C>T (p.Ser347=) c.*118C>T (n.*118C>T) c.1325C>T (p.Pro442Leu) c.1424C>T (p.Pro475Leu) c.1376C>T (p.Pro459Leu) c.1370C>T (p.Pro457Leu) c.1271C>T (p.Pro424Leu) c.917C>T (p.Pro306Leu) | gnomAD v4 |
1 | g.154465251T>A | CA420975965 | IL6R | c.1278T>A (p.Pro426=) c.*86T>A (n.*86T>A) n.476T>A c.1042T>A (p.Ser348Thr) c.*119T>A (n.*119T>A) c.1326T>A (p.Pro442=) c.1425T>A (p.Pro475=) c.1377T>A (p.Pro459=) c.1371T>A (p.Pro457=) c.1272T>A (p.Pro424=) c.918T>A (p.Pro306=) | |
1 | g.154465251T>C | CA420975966 | IL6R | c.1278T>C (p.Pro426=) c.*86T>C (n.*86T>C) n.476T>C c.1042T>C (p.Ser348Pro) c.*119T>C (n.*119T>C) c.1326T>C (p.Pro442=) c.1425T>C (p.Pro475=) c.1377T>C (p.Pro459=) c.1371T>C (p.Pro457=) c.1272T>C (p.Pro424=) c.918T>C (p.Pro306=) | |
1 | g.154465251T>G | CA420975967 | IL6R | c.1278T>G (p.Pro426=) c.*86T>G (n.*86T>G) n.476T>G c.1042T>G (p.Ser348Ala) c.*119T>G (n.*119T>G) c.1326T>G (p.Pro442=) c.1425T>G (p.Pro475=) c.1377T>G (p.Pro459=) c.1371T>G (p.Pro457=) c.1272T>G (p.Pro424=) c.918T>G (p.Pro306=) | |
1 | g.154465252C>A | CA342628562 | IL6R | c.1279C>A (p.Leu427Ile) c.*87C>A (n.*87C>A) n.477C>A c.1043C>A (p.Ser348Tyr) c.*120C>A (n.*120C>A) c.1327C>A (p.Leu443Ile) c.1426C>A (p.Leu476Ile) c.1378C>A (p.Leu460Ile) c.1372C>A (p.Leu458Ile) c.1273C>A (p.Leu425Ile) c.919C>A (p.Leu307Ile) | |
1 | g.154465252C>G | CA342628563 | IL6R | c.1279C>G (p.Leu427Val) c.*87C>G (n.*87C>G) n.477C>G c.1043C>G (p.Ser348Cys) c.*120C>G (n.*120C>G) c.1327C>G (p.Leu443Val) c.1426C>G (p.Leu476Val) c.1378C>G (p.Leu460Val) c.1372C>G (p.Leu458Val) c.1273C>G (p.Leu425Val) c.919C>G (p.Leu307Val) | gnomAD v4 |
1 | g.154465252C>T | CA342628564 | IL6R | c.1279C>T (p.Leu427Phe) c.*87C>T (n.*87C>T) n.477C>T c.1043C>T (p.Ser348Phe) c.*120C>T (n.*120C>T) c.1327C>T (p.Leu443Phe) c.1426C>T (p.Leu476Phe) c.1378C>T (p.Leu460Phe) c.1372C>T (p.Leu458Phe) c.1273C>T (p.Leu425Phe) c.919C>T (p.Leu307Phe) | gnomAD v4 |
1 | g.154465253T>A | CA342628565 | IL6R | c.1280T>A (p.Leu427His) c.*88T>A (n.*88T>A) n.478T>A c.1044T>A (p.Ser348=) c.*121T>A (n.*121T>A) c.1328T>A (p.Leu443His) c.1427T>A (p.Leu476His) c.1379T>A (p.Leu460His) c.1373T>A (p.Leu458His) c.1274T>A (p.Leu425His) c.920T>A (p.Leu307His) | |
1 | g.154465253T>C | CA342628566 | IL6R | c.1280T>C (p.Leu427Pro) c.*88T>C (n.*88T>C) n.478T>C c.1044T>C (p.Ser348=) c.*121T>C (n.*121T>C) c.1328T>C (p.Leu443Pro) c.1427T>C (p.Leu476Pro) c.1379T>C (p.Leu460Pro) c.1373T>C (p.Leu458Pro) c.1274T>C (p.Leu425Pro) c.920T>C (p.Leu307Pro) | |
1 | g.154465253T>G | CA342628567 | IL6R | c.1280T>G (p.Leu427Arg) c.*88T>G (n.*88T>G) n.478T>G c.1044T>G (p.Ser348=) c.*121T>G (n.*121T>G) c.1328T>G (p.Leu443Arg) c.1427T>G (p.Leu476Arg) c.1379T>G (p.Leu460Arg) c.1373T>G (p.Leu458Arg) c.1274T>G (p.Leu425Arg) c.920T>G (p.Leu307Arg) | |
1 | g.154465254C>A | CA420975968 | IL6R | c.1281C>A (p.Leu427=) c.*89C>A (n.*89C>A) n.479C>A c.1045C>A (p.His349Asn) c.*122C>A (n.*122C>A) c.1329C>A (p.Leu443=) c.1428C>A (p.Leu476=) c.1380C>A (p.Leu460=) c.1374C>A (p.Leu458=) c.1275C>A (p.Leu425=) c.921C>A (p.Leu307=) | dbSNP |
1 | g.154465254C= | CA2480880299 | IL6R | c.1281C= (p.Leu427=) c.*89C= (n.*89C=) n.479C= c.1045C= (p.His349=) c.*122C= (n.*122C=) c.1329C= (p.Leu443=) c.1428C= (p.Leu476=) c.1380C= (p.Leu460=) c.1374C= (p.Leu458=) c.1275C= (p.Leu425=) c.921C= (p.Leu307=) | |
1 | g.154465254C>G | CA420975970 | IL6R | c.1281C>G (p.Leu427=) c.*89C>G (n.*89C>G) n.479C>G c.1045C>G (p.His349Asp) c.*122C>G (n.*122C>G) c.1329C>G (p.Leu443=) c.1428C>G (p.Leu476=) c.1380C>G (p.Leu460=) c.1374C>G (p.Leu458=) c.1275C>G (p.Leu425=) c.921C>G (p.Leu307=) | |
1 | g.154465254C>T | CA420975969 | IL6R | c.1281C>T (p.Leu427=) c.*89C>T (n.*89C>T) n.479C>T c.1045C>T (p.His349Tyr) c.*122C>T (n.*122C>T) c.1329C>T (p.Leu443=) c.1428C>T (p.Leu476=) c.1380C>T (p.Leu460=) c.1374C>T (p.Leu458=) c.1275C>T (p.Leu425=) c.921C>T (p.Leu307=) | gnomAD v4 |
1 | g.154465255A>C | CA342628568 | IL6R | c.1282A>C (p.Ile428Leu) c.*90A>C (n.*90A>C) n.480A>C c.1046A>C (p.His349Pro) c.*123A>C (n.*123A>C) c.1330A>C (p.Ile444Leu) c.1429A>C (p.Ile477Leu) c.1381A>C (p.Ile461Leu) c.1375A>C (p.Ile459Leu) c.1276A>C (p.Ile426Leu) c.922A>C (p.Ile308Leu) | |
1 | g.154465255A>G | CA342628569 | IL6R | c.1282A>G (p.Ile428Val) c.*90A>G (n.*90A>G) n.480A>G c.1046A>G (p.His349Arg) c.*123A>G (n.*123A>G) c.1330A>G (p.Ile444Val) c.1429A>G (p.Ile477Val) c.1381A>G (p.Ile461Val) c.1375A>G (p.Ile459Val) c.1276A>G (p.Ile426Val) c.922A>G (p.Ile308Val) | |
1 | g.154465255A>T | CA342628570 | IL6R | c.1282A>T (p.Ile428Phe) c.*90A>T (n.*90A>T) n.480A>T c.1046A>T (p.His349Leu) c.*123A>T (n.*123A>T) c.1330A>T (p.Ile444Phe) c.1429A>T (p.Ile477Phe) c.1381A>T (p.Ile461Phe) c.1375A>T (p.Ile459Phe) c.1276A>T (p.Ile426Phe) c.922A>T (p.Ile308Phe) | gnomAD v4 |
1 | g.154465256T>A | CA342628571 | IL6R | c.1283T>A (p.Ile428Asn) c.*91T>A (n.*91T>A) n.481T>A c.1047T>A (p.His349Gln) c.*124T>A (n.*124T>A) c.1331T>A (p.Ile444Asn) c.1430T>A (p.Ile477Asn) c.1382T>A (p.Ile461Asn) c.1376T>A (p.Ile459Asn) c.1277T>A (p.Ile426Asn) c.923T>A (p.Ile308Asn) | |
1 | g.154465256T>C | CA1129337 | IL6R | c.1283T>C (p.Ile428Thr) c.*91T>C (n.*91T>C) n.481T>C c.1047T>C (p.His349=) c.*124T>C (n.*124T>C) c.1331T>C (p.Ile444Thr) c.1430T>C (p.Ile477Thr) c.1382T>C (p.Ile461Thr) c.1376T>C (p.Ile459Thr) c.1277T>C (p.Ile426Thr) c.923T>C (p.Ile308Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154465256T>G | CA342628572 | IL6R | c.1283T>G (p.Ile428Ser) c.*91T>G (n.*91T>G) n.481T>G c.1047T>G (p.His349Gln) c.*124T>G (n.*124T>G) c.1331T>G (p.Ile444Ser) c.1430T>G (p.Ile477Ser) c.1382T>G (p.Ile461Ser) c.1376T>G (p.Ile459Ser) c.1277T>G (p.Ile426Ser) c.923T>G (p.Ile308Ser) | |
1 | g.154465256T= | CA2480880300 | IL6R | c.1283T= (p.Ile428=) c.*91T= (n.*91T=) n.481T= c.1047T= (p.His349=) c.*124T= (n.*124T=) c.1331T= (p.Ile444=) c.1430T= (p.Ile477=) c.1382T= (p.Ile461=) c.1376T= (p.Ile459=) c.1277T= (p.Ile426=) c.923T= (p.Ile308=) | |
1 | g.154465257C>A | CA420975971 | IL6R | c.1284C>A (p.Ile428=) c.*92C>A (n.*92C>A) n.482C>A c.1048C>A (p.Leu350Ile) c.*125C>A (n.*125C>A) c.1332C>A (p.Ile444=) c.1431C>A (p.Ile477=) c.1383C>A (p.Ile461=) c.1377C>A (p.Ile459=) c.1278C>A (p.Ile426=) c.924C>A (p.Ile308=) | |
1 | g.154465257C= | CA2480880301 | IL6R | c.1284C= (p.Ile428=) c.*92C= (n.*92C=) n.482C= c.1048C= (p.Leu350=) c.*125C= (n.*125C=) c.1332C= (p.Ile444=) c.1431C= (p.Ile477=) c.1383C= (p.Ile461=) c.1377C= (p.Ile459=) c.1278C= (p.Ile426=) c.924C= (p.Ile308=) | |
1 | g.154465257C>G | CA342628573 | IL6R | c.1284C>G (p.Ile428Met) c.*92C>G (n.*92C>G) n.482C>G c.1048C>G (p.Leu350Val) c.*125C>G (n.*125C>G) c.1332C>G (p.Ile444Met) c.1431C>G (p.Ile477Met) c.1383C>G (p.Ile461Met) c.1377C>G (p.Ile459Met) c.1278C>G (p.Ile426Met) c.924C>G (p.Ile308Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154465257C>T | CA420975972 | IL6R | c.1284C>T (p.Ile428=) c.*92C>T (n.*92C>T) n.482C>T c.1048C>T (p.Leu350Phe) c.*125C>T (n.*125C>T) c.1332C>T (p.Ile444=) c.1431C>T (p.Ile477=) c.1383C>T (p.Ile461=) c.1377C>T (p.Ile459=) c.1278C>T (p.Ile426=) c.924C>T (p.Ile308=) | gnomAD v4 |
1 | g.154465258T>A | CA342628576 | IL6R | c.1285T>A (p.Ser429Thr) c.*93T>A (n.*93T>A) n.483T>A c.1049T>A (p.Leu350His) c.*126T>A (n.*126T>A) c.1333T>A (p.Ser445Thr) c.1432T>A (p.Ser478Thr) c.1384T>A (p.Ser462Thr) c.1378T>A (p.Ser460Thr) c.1279T>A (p.Ser427Thr) c.925T>A (p.Ser309Thr) | |
1 | g.154465258T>C | CA342628575 | IL6R | c.1285T>C (p.Ser429Pro) c.*93T>C (n.*93T>C) n.483T>C c.1049T>C (p.Leu350Pro) c.*126T>C (n.*126T>C) c.1333T>C (p.Ser445Pro) c.1432T>C (p.Ser478Pro) c.1384T>C (p.Ser462Pro) c.1378T>C (p.Ser460Pro) c.1279T>C (p.Ser427Pro) c.925T>C (p.Ser309Pro) | |
1 | g.154465258T>G | CA342628574 | IL6R | c.1285T>G (p.Ser429Ala) c.*93T>G (n.*93T>G) n.483T>G c.1049T>G (p.Leu350Arg) c.*126T>G (n.*126T>G) c.1333T>G (p.Ser445Ala) c.1432T>G (p.Ser478Ala) c.1384T>G (p.Ser462Ala) c.1378T>G (p.Ser460Ala) c.1279T>G (p.Ser427Ala) c.925T>G (p.Ser309Ala) | |
1 | g.154465259C>A | CA342628577 | IL6R | c.1286C>A (p.Ser429Tyr) c.*94C>A (n.*94C>A) n.484C>A c.1050C>A (p.Leu350=) c.*127C>A (n.*127C>A) c.1334C>A (p.Ser445Tyr) c.1433C>A (p.Ser478Tyr) c.1385C>A (p.Ser462Tyr) c.1379C>A (p.Ser460Tyr) c.1280C>A (p.Ser427Tyr) c.926C>A (p.Ser309Tyr) | |
1 | g.154465259C>G | CA342628578 | IL6R | c.1286C>G (p.Ser429Cys) c.*94C>G (n.*94C>G) n.484C>G c.1050C>G (p.Leu350=) c.*127C>G (n.*127C>G) c.1334C>G (p.Ser445Cys) c.1433C>G (p.Ser478Cys) c.1385C>G (p.Ser462Cys) c.1379C>G (p.Ser460Cys) c.1280C>G (p.Ser427Cys) c.926C>G (p.Ser309Cys) | |
1 | g.154465259C>T | CA342628579 | IL6R | c.1286C>T (p.Ser429Phe) c.*94C>T (n.*94C>T) n.484C>T c.1050C>T (p.Leu350=) c.*127C>T (n.*127C>T) c.1334C>T (p.Ser445Phe) c.1433C>T (p.Ser478Phe) c.1385C>T (p.Ser462Phe) c.1379C>T (p.Ser460Phe) c.1280C>T (p.Ser427Phe) c.926C>T (p.Ser309Phe) | gnomAD v4 COSMIC |
1 | g.154465260C>A | CA420975973 | IL6R | c.1287C>A (p.Ser429=) c.*95C>A (n.*95C>A) n.485C>A c.1051C>A (p.Pro351Thr) c.*128C>A (n.*128C>A) c.1335C>A (p.Ser445=) c.1434C>A (p.Ser478=) c.1386C>A (p.Ser462=) c.1380C>A (p.Ser460=) c.1281C>A (p.Ser427=) c.927C>A (p.Ser309=) | |
1 | g.154465260C>G | CA420975974 | IL6R | c.1287C>G (p.Ser429=) c.*95C>G (n.*95C>G) n.485C>G c.1051C>G (p.Pro351Ala) c.*128C>G (n.*128C>G) c.1335C>G (p.Ser445=) c.1434C>G (p.Ser478=) c.1386C>G (p.Ser462=) c.1380C>G (p.Ser460=) c.1281C>G (p.Ser427=) c.927C>G (p.Ser309=) | |
1 | g.154465260C>T | CA420975975 | IL6R | c.1287C>T (p.Ser429=) c.*95C>T (n.*95C>T) n.485C>T c.1051C>T (p.Pro351Ser) c.*128C>T (n.*128C>T) c.1335C>T (p.Ser445=) c.1434C>T (p.Ser478=) c.1386C>T (p.Ser462=) c.1380C>T (p.Ser460=) c.1281C>T (p.Ser427=) c.927C>T (p.Ser309=) | |
1 | g.154465261C>A | CA342628580 | IL6R | c.1288C>A (p.Pro430Thr) c.*96C>A (n.*96C>A) n.486C>A c.1052C>A (p.Pro351His) c.*129C>A (n.*129C>A) c.1336C>A (p.Pro446Thr) c.1435C>A (p.Pro479Thr) c.1387C>A (p.Pro463Thr) c.1381C>A (p.Pro461Thr) c.1282C>A (p.Pro428Thr) c.928C>A (p.Pro310Thr) | |
1 | g.154465261C>G | CA342628581 | IL6R | c.1288C>G (p.Pro430Ala) c.*96C>G (n.*96C>G) n.486C>G c.1052C>G (p.Pro351Arg) c.*129C>G (n.*129C>G) c.1336C>G (p.Pro446Ala) c.1435C>G (p.Pro479Ala) c.1387C>G (p.Pro463Ala) c.1381C>G (p.Pro461Ala) c.1282C>G (p.Pro428Ala) c.928C>G (p.Pro310Ala) | |
1 | g.154465261C>T | CA342628582 | IL6R | c.1288C>T (p.Pro430Ser) c.*96C>T (n.*96C>T) n.486C>T c.1052C>T (p.Pro351Leu) c.*129C>T (n.*129C>T) c.1336C>T (p.Pro446Ser) c.1435C>T (p.Pro479Ser) c.1387C>T (p.Pro463Ser) c.1381C>T (p.Pro461Ser) c.1282C>T (p.Pro428Ser) c.928C>T (p.Pro310Ser) | |
1 | g.154465262C>A | CA342628583 | IL6R | c.1289C>A (p.Pro430Gln) c.*97C>A (n.*97C>A) n.487C>A c.1053C>A (p.Pro351=) c.*130C>A (n.*130C>A) c.1337C>A (p.Pro446Gln) c.1436C>A (p.Pro479Gln) c.1388C>A (p.Pro463Gln) c.1382C>A (p.Pro461Gln) c.1283C>A (p.Pro428Gln) c.929C>A (p.Pro310Gln) | |
1 | g.154465262C>G | CA342628584 | IL6R | c.1289C>G (p.Pro430Arg) c.*97C>G (n.*97C>G) n.487C>G c.1053C>G (p.Pro351=) c.*130C>G (n.*130C>G) c.1337C>G (p.Pro446Arg) c.1436C>G (p.Pro479Arg) c.1388C>G (p.Pro463Arg) c.1382C>G (p.Pro461Arg) c.1283C>G (p.Pro428Arg) c.929C>G (p.Pro310Arg) | |
1 | g.154465262C>T | CA342628585 | IL6R | c.1289C>T (p.Pro430Leu) c.*97C>T (n.*97C>T) n.487C>T c.1053C>T (p.Pro351=) c.*130C>T (n.*130C>T) c.1337C>T (p.Pro446Leu) c.1436C>T (p.Pro479Leu) c.1388C>T (p.Pro463Leu) c.1382C>T (p.Pro461Leu) c.1283C>T (p.Pro428Leu) c.929C>T (p.Pro310Leu) | |
1 | g.154465263A>C | CA420975976 | IL6R | c.1290A>C (p.Pro430=) c.*98A>C (n.*98A>C) n.488A>C c.1054A>C (p.Thr352Pro) c.*131A>C (n.*131A>C) c.1338A>C (p.Pro446=) c.1437A>C (p.Pro479=) c.1389A>C (p.Pro463=) c.1383A>C (p.Pro461=) c.1284A>C (p.Pro428=) c.930A>C (p.Pro310=) | |
1 | g.154465263A>G | CA420975977 | IL6R | c.1290A>G (p.Pro430=) c.*98A>G (n.*98A>G) n.488A>G c.1054A>G (p.Thr352Ala) c.*131A>G (n.*131A>G) c.1338A>G (p.Pro446=) c.1437A>G (p.Pro479=) c.1389A>G (p.Pro463=) c.1383A>G (p.Pro461=) c.1284A>G (p.Pro428=) c.930A>G (p.Pro310=) | |
1 | g.154465263A>T | CA420975978 | IL6R | c.1290A>T (p.Pro430=) c.*98A>T (n.*98A>T) n.488A>T c.1054A>T (p.Thr352Ser) c.*131A>T (n.*131A>T) c.1338A>T (p.Pro446=) c.1437A>T (p.Pro479=) c.1389A>T (p.Pro463=) c.1383A>T (p.Pro461=) c.1284A>T (p.Pro428=) c.930A>T (p.Pro310=) | |
1 | g.154465263_154465273delinsACCGGTGTCCC | CA2480880302 | IL6R | c.1290_1300delinsACCGGTGTCCC (p.Pro430=) c.*98_*108delinsACCGGTGTCCC (n.*98_*108delinsACCGGTGTCCC) n.488_498delinsACCGGTGTCCC c.1054_1064delinsACCGGTGTCCC (p.Thr352=) c.*131_*141delinsACCGGTGTCCC (n.*131_*141delinsACCGGTGTCCC) c.1338_1348delinsACCGGTGTCCC (p.Pro446=) c.1437_1447delinsACCGGTGTCCC (p.Pro479=) c.1389_1399delinsACCGGTGTCCC (p.Pro463=) c.1383_1393delinsACCGGTGTCCC (p.Pro461=) c.1284_1294delinsACCGGTGTCCC (p.Pro428=) c.930_940delinsACCGGTGTCCC (p.Pro310=) | |
1 | g.154465264C>A | CA342628586 | IL6R | c.1291C>A (p.Pro431Thr) c.*99C>A (n.*99C>A) n.489C>A c.1055C>A (p.Thr352Asn) c.*132C>A (n.*132C>A) c.1339C>A (p.Pro447Thr) c.1438C>A (p.Pro480Thr) c.1390C>A (p.Pro464Thr) c.1384C>A (p.Pro462Thr) c.1285C>A (p.Pro429Thr) c.931C>A (p.Pro311Thr) | |
1 | g.154465264C= | CA2480880303 | IL6R | c.1291C= (p.Pro431=) c.*99C= (n.*99C=) n.489C= c.1055C= (p.Thr352=) c.*132C= (n.*132C=) c.1339C= (p.Pro447=) c.1438C= (p.Pro480=) c.1390C= (p.Pro464=) c.1384C= (p.Pro462=) c.1285C= (p.Pro429=) c.931C= (p.Pro311=) | |
1 | g.154465264C>G | CA342628587 | IL6R | c.1291C>G (p.Pro431Ala) c.*99C>G (n.*99C>G) n.489C>G c.1055C>G (p.Thr352Ser) c.*132C>G (n.*132C>G) c.1339C>G (p.Pro447Ala) c.1438C>G (p.Pro480Ala) c.1390C>G (p.Pro464Ala) c.1384C>G (p.Pro462Ala) c.1285C>G (p.Pro429Ala) c.931C>G (p.Pro311Ala) | |
1 | g.154465264C>T | CA342628588 | IL6R | c.1291C>T (p.Pro431Ser) c.*99C>T (n.*99C>T) n.489C>T c.1055C>T (p.Thr352Ile) c.*132C>T (n.*132C>T) c.1339C>T (p.Pro447Ser) c.1438C>T (p.Pro480Ser) c.1390C>T (p.Pro464Ser) c.1384C>T (p.Pro462Ser) c.1285C>T (p.Pro429Ser) c.931C>T (p.Pro311Ser) | ClinVar dbSNP |
1 | g.154465266_154465275del | CA1129338 | IL6R | c.1293_1302del (p.Val432AlafsTer?) c.*101_*110del (n.*101_*110del) n.491_500del c.1057_1066del (p.Gly353SerfsTer?) c.*134_*143del (n.*134_*143del) c.1341_1350del (p.Val448AlafsTer?) c.1440_1449del (p.Val481AlafsTer?) c.1392_1401del (p.Val465AlafsTer?) c.1386_1395del (p.Val463AlafsTer?) c.1287_1296del (p.Val430AlafsTer?) c.933_942del (p.Val312AlafsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154465265C>A | CA342628589 | IL6R | c.1292C>A (p.Pro431Gln) c.*100C>A (n.*100C>A) n.490C>A c.1056C>A (p.Thr352=) c.*133C>A (n.*133C>A) c.1340C>A (p.Pro447Gln) c.1439C>A (p.Pro480Gln) c.1391C>A (p.Pro464Gln) c.1385C>A (p.Pro462Gln) c.1286C>A (p.Pro429Gln) c.932C>A (p.Pro311Gln) | |
1 | g.154465265C= | CA1143366893 | IL6R | c.1292C= (p.Pro431=) c.*100C= (n.*100C=) n.490C= c.1056C= (p.Thr352=) c.*133C= (n.*133C=) c.1340C= (p.Pro447=) c.1439C= (p.Pro480=) c.1391C= (p.Pro464=) c.1385C= (p.Pro462=) c.1286C= (p.Pro429=) c.932C= (p.Pro311=) | |
1 | g.154465265C>G | CA342628590 | IL6R | c.1292C>G (p.Pro431Arg) c.*100C>G (n.*100C>G) n.490C>G c.1056C>G (p.Thr352=) c.*133C>G (n.*133C>G) c.1340C>G (p.Pro447Arg) c.1439C>G (p.Pro480Arg) c.1391C>G (p.Pro464Arg) c.1385C>G (p.Pro462Arg) c.1286C>G (p.Pro429Arg) c.932C>G (p.Pro311Arg) | dbSNP |
1 | g.154465265C>T | CA1129339 | IL6R | c.1292C>T (p.Pro431Leu) c.*100C>T (n.*100C>T) n.490C>T c.1056C>T (p.Thr352=) c.*133C>T (n.*133C>T) c.1340C>T (p.Pro447Leu) c.1439C>T (p.Pro480Leu) c.1391C>T (p.Pro464Leu) c.1385C>T (p.Pro462Leu) c.1286C>T (p.Pro429Leu) c.932C>T (p.Pro311Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465266G>A | CA30816507 | IL6R | c.1293G>A (p.Pro431=) c.*101G>A (n.*101G>A) n.491G>A c.1057G>A (p.Gly353Ser) c.*134G>A (n.*134G>A) c.1341G>A (p.Pro447=) c.1440G>A (p.Pro480=) c.1392G>A (p.Pro464=) c.1386G>A (p.Pro462=) c.1287G>A (p.Pro429=) c.933G>A (p.Pro311=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465266G>C | CA420975980 | IL6R | c.1293G>C (p.Pro431=) c.*101G>C (n.*101G>C) n.491G>C c.1057G>C (p.Gly353Arg) c.*134G>C (n.*134G>C) c.1341G>C (p.Pro447=) c.1440G>C (p.Pro480=) c.1392G>C (p.Pro464=) c.1386G>C (p.Pro462=) c.1287G>C (p.Pro429=) c.933G>C (p.Pro311=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154465266G= | CA2480880304 | IL6R | c.1293G= (p.Pro431=) c.*101G= (n.*101G=) n.491G= c.1057G= (p.Gly353=) c.*134G= (n.*134G=) c.1341G= (p.Pro447=) c.1440G= (p.Pro480=) c.1392G= (p.Pro464=) c.1386G= (p.Pro462=) c.1287G= (p.Pro429=) c.933G= (p.Pro311=) | |
1 | g.154465266G>T | CA420975979 | IL6R | c.1293G>T (p.Pro431=) c.*101G>T (n.*101G>T) n.491G>T c.1057G>T (p.Gly353Cys) c.*134G>T (n.*134G>T) c.1341G>T (p.Pro447=) c.1440G>T (p.Pro480=) c.1392G>T (p.Pro464=) c.1386G>T (p.Pro462=) c.1287G>T (p.Pro429=) c.933G>T (p.Pro311=) | |
1 | g.154465267G>A | CA342628592 | IL6R | c.1294G>A (p.Val432Met) c.*102G>A (n.*102G>A) n.492G>A c.1058G>A (p.Gly353Asp) c.*135G>A (n.*135G>A) c.1342G>A (p.Val448Met) c.1441G>A (p.Val481Met) c.1393G>A (p.Val465Met) c.1387G>A (p.Val463Met) c.1288G>A (p.Val430Met) c.934G>A (p.Val312Met) | |
1 | g.154465267G>C | CA342628591 | IL6R | c.1294G>C (p.Val432Leu) c.*102G>C (n.*102G>C) n.492G>C c.1058G>C (p.Gly353Ala) c.*135G>C (n.*135G>C) c.1342G>C (p.Val448Leu) c.1441G>C (p.Val481Leu) c.1393G>C (p.Val465Leu) c.1387G>C (p.Val463Leu) c.1288G>C (p.Val430Leu) c.934G>C (p.Val312Leu) | dbSNP |
1 | g.154465267G= | CA2480880305 | IL6R | c.1294G= (p.Val432=) c.*102G= (n.*102G=) n.492G= c.1058G= (p.Gly353=) c.*135G= (n.*135G=) c.1342G= (p.Val448=) c.1441G= (p.Val481=) c.1393G= (p.Val465=) c.1387G= (p.Val463=) c.1288G= (p.Val430=) c.934G= (p.Val312=) | |
1 | g.154465267G>T | CA342628593 | IL6R | c.1294G>T (p.Val432Leu) c.*102G>T (n.*102G>T) n.492G>T c.1058G>T (p.Gly353Val) c.*135G>T (n.*135G>T) c.1342G>T (p.Val448Leu) c.1441G>T (p.Val481Leu) c.1393G>T (p.Val465Leu) c.1387G>T (p.Val463Leu) c.1288G>T (p.Val430Leu) c.934G>T (p.Val312Leu) | |
1 | g.154465268T>A | CA342628594 | IL6R | c.1295T>A (p.Val432Glu) c.*103T>A (n.*103T>A) n.493T>A c.1059T>A (p.Gly353=) c.*136T>A (n.*136T>A) c.1343T>A (p.Val448Glu) c.1442T>A (p.Val481Glu) c.1394T>A (p.Val465Glu) c.1388T>A (p.Val463Glu) c.1289T>A (p.Val430Glu) c.935T>A (p.Val312Glu) | |
1 | g.154465268T>C | CA1129340 | IL6R | c.1295T>C (p.Val432Ala) c.*103T>C (n.*103T>C) n.493T>C c.1059T>C (p.Gly353=) c.*136T>C (n.*136T>C) c.1343T>C (p.Val448Ala) c.1442T>C (p.Val481Ala) c.1394T>C (p.Val465Ala) c.1388T>C (p.Val463Ala) c.1289T>C (p.Val430Ala) c.935T>C (p.Val312Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154465268T>G | CA342628595 | IL6R | c.1295T>G (p.Val432Gly) c.*103T>G (n.*103T>G) n.493T>G c.1059T>G (p.Gly353=) c.*136T>G (n.*136T>G) c.1343T>G (p.Val448Gly) c.1442T>G (p.Val481Gly) c.1394T>G (p.Val465Gly) c.1388T>G (p.Val463Gly) c.1289T>G (p.Val430Gly) c.935T>G (p.Val312Gly) | |
1 | g.154465268T= | CA2480880306 | IL6R | c.1295T= (p.Val432=) c.*103T= (n.*103T=) n.493T= c.1059T= (p.Gly353=) c.*136T= (n.*136T=) c.1343T= (p.Val448=) c.1442T= (p.Val481=) c.1394T= (p.Val465=) c.1388T= (p.Val463=) c.1289T= (p.Val430=) c.935T= (p.Val312=) | |
1 | g.154465269G>A | CA420975982 | IL6R | c.1296G>A (p.Val432=) c.*104G>A (n.*104G>A) n.494G>A c.1060G>A (p.Val354Ile) c.*137G>A (n.*137G>A) c.1344G>A (p.Val448=) c.1443G>A (p.Val481=) c.1395G>A (p.Val465=) c.1389G>A (p.Val463=) c.1290G>A (p.Val430=) c.936G>A (p.Val312=) | gnomAD v4 |
1 | g.154465269G>C | CA420975983 | IL6R | c.1296G>C (p.Val432=) c.*104G>C (n.*104G>C) n.494G>C c.1060G>C (p.Val354Leu) c.*137G>C (n.*137G>C) c.1344G>C (p.Val448=) c.1443G>C (p.Val481=) c.1395G>C (p.Val465=) c.1389G>C (p.Val463=) c.1290G>C (p.Val430=) c.936G>C (p.Val312=) | |
1 | g.154465269G>T | CA420975984 | IL6R | c.1296G>T (p.Val432=) c.*104G>T (n.*104G>T) n.494G>T c.1060G>T (p.Val354Phe) c.*137G>T (n.*137G>T) c.1344G>T (p.Val448=) c.1443G>T (p.Val481=) c.1395G>T (p.Val465=) c.1389G>T (p.Val463=) c.1290G>T (p.Val430=) c.936G>T (p.Val312=) | gnomAD v4 |
1 | g.154465270T>A | CA342628596 | IL6R | c.1297T>A (p.Ser433Thr) c.*105T>A (n.*105T>A) n.495T>A c.1061T>A (p.Val354Asp) c.*138T>A (n.*138T>A) c.1345T>A (p.Ser449Thr) c.1444T>A (p.Ser482Thr) c.1396T>A (p.Ser466Thr) c.1390T>A (p.Ser464Thr) c.1291T>A (p.Ser431Thr) c.937T>A (p.Ser313Thr) | |
1 | g.154465270T>C | CA30816512 | IL6R | c.1297T>C (p.Ser433Pro) c.*105T>C (n.*105T>C) n.495T>C c.1061T>C (p.Val354Ala) c.*138T>C (n.*138T>C) c.1345T>C (p.Ser449Pro) c.1444T>C (p.Ser482Pro) c.1396T>C (p.Ser466Pro) c.1390T>C (p.Ser464Pro) c.1291T>C (p.Ser431Pro) c.937T>C (p.Ser313Pro) | dbSNP gnomAD v4 |
1 | g.154465270T>G | CA342628597 | IL6R | c.1297T>G (p.Ser433Ala) c.*105T>G (n.*105T>G) n.495T>G c.1061T>G (p.Val354Gly) c.*138T>G (n.*138T>G) c.1345T>G (p.Ser449Ala) c.1444T>G (p.Ser482Ala) c.1396T>G (p.Ser466Ala) c.1390T>G (p.Ser464Ala) c.1291T>G (p.Ser431Ala) c.937T>G (p.Ser313Ala) | |
1 | g.154465270T= | CA2480880308 | IL6R | c.1297T= (p.Ser433=) c.*105T= (n.*105T=) n.495T= c.1061T= (p.Val354=) c.*138T= (n.*138T=) c.1345T= (p.Ser449=) c.1444T= (p.Ser482=) c.1396T= (p.Ser466=) c.1390T= (p.Ser464=) c.1291T= (p.Ser431=) c.937T= (p.Ser313=) | |
1 | g.154465270_154465271delinsTC | CA2480880307 | IL6R | c.1297_1298delinsTC (p.Ser433=) c.*105_*106delinsTC (n.*105_*106delinsTC) n.495_496delinsTC c.1061_1062delinsTC (p.Val354=) c.*138_*139delinsTC (n.*138_*139delinsTC) c.1345_1346delinsTC (p.Ser449=) c.1444_1445delinsTC (p.Ser482=) c.1396_1397delinsTC (p.Ser466=) c.1390_1391delinsTC (p.Ser464=) c.1291_1292delinsTC (p.Ser431=) c.937_938delinsTC (p.Ser313=) | |
1 | g.154465271C>A | CA342628598 | IL6R | c.1298C>A (p.Ser433Tyr) c.*106C>A (n.*106C>A) n.496C>A c.1062C>A (p.Val354=) c.*139C>A (n.*139C>A) c.1346C>A (p.Ser449Tyr) c.1445C>A (p.Ser482Tyr) c.1397C>A (p.Ser466Tyr) c.1391C>A (p.Ser464Tyr) c.1292C>A (p.Ser431Tyr) c.938C>A (p.Ser313Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.154465271C= | CA2480880309 | IL6R | c.1298C= (p.Ser433=) c.*106C= (n.*106C=) n.496C= c.1062C= (p.Val354=) c.*139C= (n.*139C=) c.1346C= (p.Ser449=) c.1445C= (p.Ser482=) c.1397C= (p.Ser466=) c.1391C= (p.Ser464=) c.1292C= (p.Ser431=) c.938C= (p.Ser313=) | |
1 | g.154465271C>G | CA342628599 | IL6R | c.1298C>G (p.Ser433Cys) c.*106C>G (n.*106C>G) n.496C>G c.1062C>G (p.Val354=) c.*139C>G (n.*139C>G) c.1346C>G (p.Ser449Cys) c.1445C>G (p.Ser482Cys) c.1397C>G (p.Ser466Cys) c.1391C>G (p.Ser464Cys) c.1292C>G (p.Ser431Cys) c.938C>G (p.Ser313Cys) | |
1 | g.154465271C>T | CA342628600 | IL6R | c.1298C>T (p.Ser433Phe) c.*106C>T (n.*106C>T) n.496C>T c.1062C>T (p.Val354=) c.*139C>T (n.*139C>T) c.1346C>T (p.Ser449Phe) c.1445C>T (p.Ser482Phe) c.1397C>T (p.Ser466Phe) c.1391C>T (p.Ser464Phe) c.1292C>T (p.Ser431Phe) c.938C>T (p.Ser313Phe) | dbSNP gnomAD v4 |
1 | g.154465275del | CA1129341 | IL6R | c.1302del (p.Ser435AlafsTer?) c.*110del (n.*110del) n.500del c.1066del (p.Gln356SerfsTer?) c.*143del (n.*143del) c.1350del (p.Ser451AlafsTer?) c.1449del (p.Ser484AlafsTer?) c.1401del (p.Ser468AlafsTer?) c.1395del (p.Ser466AlafsTer?) c.1296del (p.Ser433AlafsTer?) c.942del (p.Ser315AlafsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465272C>A | CA420975987 | IL6R | c.1299C>A (p.Ser433=) c.*107C>A (n.*107C>A) n.497C>A c.1063C>A (p.Pro355Thr) c.*140C>A (n.*140C>A) c.1347C>A (p.Ser449=) c.1446C>A (p.Ser482=) c.1398C>A (p.Ser466=) c.1392C>A (p.Ser464=) c.1293C>A (p.Ser431=) c.939C>A (p.Ser313=) | |
1 | g.154465272C= | CA2480880310 | IL6R | c.1299C= (p.Ser433=) c.*107C= (n.*107C=) n.497C= c.1063C= (p.Pro355=) c.*140C= (n.*140C=) c.1347C= (p.Ser449=) c.1446C= (p.Ser482=) c.1398C= (p.Ser466=) c.1392C= (p.Ser464=) c.1293C= (p.Ser431=) c.939C= (p.Ser313=) | |
1 | g.154465272C>G | CA420975985 | IL6R | c.1299C>G (p.Ser433=) c.*107C>G (n.*107C>G) n.497C>G c.1063C>G (p.Pro355Ala) c.*140C>G (n.*140C>G) c.1347C>G (p.Ser449=) c.1446C>G (p.Ser482=) c.1398C>G (p.Ser466=) c.1392C>G (p.Ser464=) c.1293C>G (p.Ser431=) c.939C>G (p.Ser313=) | |
1 | g.154465272C>T | CA420975986 | IL6R | c.1299C>T (p.Ser433=) c.*107C>T (n.*107C>T) n.497C>T c.1063C>T (p.Pro355Ser) c.*140C>T (n.*140C>T) c.1347C>T (p.Ser449=) c.1446C>T (p.Ser482=) c.1398C>T (p.Ser466=) c.1392C>T (p.Ser464=) c.1293C>T (p.Ser431=) c.939C>T (p.Ser313=) | ClinVar dbSNP gnomAD v4 |
1 | g.154465273C>A | CA342628601 | IL6R | c.1300C>A (p.Pro434Thr) c.*108C>A (n.*108C>A) n.498C>A c.1064C>A (p.Pro355His) c.*141C>A (n.*141C>A) c.1348C>A (p.Pro450Thr) c.1447C>A (p.Pro483Thr) c.1399C>A (p.Pro467Thr) c.1393C>A (p.Pro465Thr) c.1294C>A (p.Pro432Thr) c.940C>A (p.Pro314Thr) | |
1 | g.154465273C= | CA1142341921 | IL6R | c.1300C= (p.Pro434=) c.*108C= (n.*108C=) n.498C= c.1064C= (p.Pro355=) c.*141C= (n.*141C=) c.1348C= (p.Pro450=) c.1447C= (p.Pro483=) c.1399C= (p.Pro467=) c.1393C= (p.Pro465=) c.1294C= (p.Pro432=) c.940C= (p.Pro314=) | |
1 | g.154465273C>G | CA342628602 | IL6R | c.1300C>G (p.Pro434Ala) c.*108C>G (n.*108C>G) n.498C>G c.1064C>G (p.Pro355Arg) c.*141C>G (n.*141C>G) c.1348C>G (p.Pro450Ala) c.1447C>G (p.Pro483Ala) c.1399C>G (p.Pro467Ala) c.1393C>G (p.Pro465Ala) c.1294C>G (p.Pro432Ala) c.940C>G (p.Pro314Ala) | |
1 | g.154465273C>T | CA1129342 | IL6R | c.1300C>T (p.Pro434Ser) c.*108C>T (n.*108C>T) n.498C>T c.1064C>T (p.Pro355Leu) c.*141C>T (n.*141C>T) c.1348C>T (p.Pro450Ser) c.1447C>T (p.Pro483Ser) c.1399C>T (p.Pro467Ser) c.1393C>T (p.Pro465Ser) c.1294C>T (p.Pro432Ser) c.940C>T (p.Pro314Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154465274C>A | CA342628605 | IL6R | c.1301C>A (p.Pro434His) c.*109C>A (n.*109C>A) n.499C>A c.1065C>A (p.Pro355=) c.*142C>A (n.*142C>A) c.1349C>A (p.Pro450His) c.1448C>A (p.Pro483His) c.1400C>A (p.Pro467His) c.1394C>A (p.Pro465His) c.1295C>A (p.Pro432His) c.941C>A (p.Pro314His) | |
1 | g.154465274C>G | CA342628604 | IL6R | c.1301C>G (p.Pro434Arg) c.*109C>G (n.*109C>G) n.499C>G c.1065C>G (p.Pro355=) c.*142C>G (n.*142C>G) c.1349C>G (p.Pro450Arg) c.1448C>G (p.Pro483Arg) c.1400C>G (p.Pro467Arg) c.1394C>G (p.Pro465Arg) c.1295C>G (p.Pro432Arg) c.941C>G (p.Pro314Arg) | gnomAD v4 |
1 | g.154465274C>T | CA342628603 | IL6R | c.1301C>T (p.Pro434Leu) c.*109C>T (n.*109C>T) n.499C>T c.1065C>T (p.Pro355=) c.*142C>T (n.*142C>T) c.1349C>T (p.Pro450Leu) c.1448C>T (p.Pro483Leu) c.1400C>T (p.Pro467Leu) c.1394C>T (p.Pro465Leu) c.1295C>T (p.Pro432Leu) c.941C>T (p.Pro314Leu) | |
1 | g.154465275C>A | CA420975988 | IL6R | c.1302C>A (p.Pro434=) c.*110C>A (n.*110C>A) n.500C>A c.1066C>A (p.Gln356Lys) c.*143C>A (n.*143C>A) c.1350C>A (p.Pro450=) c.1449C>A (p.Pro483=) c.1401C>A (p.Pro467=) c.1395C>A (p.Pro465=) c.1296C>A (p.Pro432=) c.942C>A (p.Pro314=) | |
1 | g.154465275C>G | CA420975989 | IL6R | c.1302C>G (p.Pro434=) c.*110C>G (n.*110C>G) n.500C>G c.1066C>G (p.Gln356Glu) c.*143C>G (n.*143C>G) c.1350C>G (p.Pro450=) c.1449C>G (p.Pro483=) c.1401C>G (p.Pro467=) c.1395C>G (p.Pro465=) c.1296C>G (p.Pro432=) c.942C>G (p.Pro314=) | |
1 | g.154465275C>T | CA420975990 | IL6R | c.1302C>T (p.Pro434=) c.*110C>T (n.*110C>T) n.500C>T c.1066C>T (p.Gln356Ter) c.*143C>T (n.*143C>T) c.1350C>T (p.Pro450=) c.1449C>T (p.Pro483=) c.1401C>T (p.Pro467=) c.1395C>T (p.Pro465=) c.1296C>T (p.Pro432=) c.942C>T (p.Pro314=) | |
1 | g.154465276A= | CA2480880311 | IL6R | c.1303A= (p.Ser435=) c.*111A= (n.*111A=) n.501A= c.1067A= (p.Gln356=) c.*144A= (n.*144A=) c.1351A= (p.Ser451=) c.1450A= (p.Ser484=) c.1402A= (p.Ser468=) c.1396A= (p.Ser466=) c.1297A= (p.Ser433=) c.943A= (p.Ser315=) | |
1 | g.154465276A>C | CA342628606 | IL6R | c.1303A>C (p.Ser435Arg) c.*111A>C (n.*111A>C) n.501A>C c.1067A>C (p.Gln356Pro) c.*144A>C (n.*144A>C) c.1351A>C (p.Ser451Arg) c.1450A>C (p.Ser484Arg) c.1402A>C (p.Ser468Arg) c.1396A>C (p.Ser466Arg) c.1297A>C (p.Ser433Arg) c.943A>C (p.Ser315Arg) | |
1 | g.154465276A>G | CA1129343 | IL6R | c.1303A>G (p.Ser435Gly) c.*111A>G (n.*111A>G) n.501A>G c.1067A>G (p.Gln356Arg) c.*144A>G (n.*144A>G) c.1351A>G (p.Ser451Gly) c.1450A>G (p.Ser484Gly) c.1402A>G (p.Ser468Gly) c.1396A>G (p.Ser466Gly) c.1297A>G (p.Ser433Gly) c.943A>G (p.Ser315Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154465276A>T | CA342628607 | IL6R | c.1303A>T (p.Ser435Cys) c.*111A>T (n.*111A>T) n.501A>T c.1067A>T (p.Gln356Leu) c.*144A>T (n.*144A>T) c.1351A>T (p.Ser451Cys) c.1450A>T (p.Ser484Cys) c.1402A>T (p.Ser468Cys) c.1396A>T (p.Ser466Cys) c.1297A>T (p.Ser433Cys) c.943A>T (p.Ser315Cys) | |
1 | g.154465276dup | CA2573909516 | IL6R | c.1303dup (p.Ser435LysfsTer6) c.*111dup (n.*111dup) n.501dup c.1067dup (p.Gln357AlafsTer?) c.*144dup (n.*144dup) c.1351dup (p.Ser451LysfsTer6) c.1450dup (p.Ser484LysfsTer6) c.1402dup (p.Ser468LysfsTer6) c.1396dup (p.Ser466LysfsTer6) c.1297dup (p.Ser433LysfsTer6) c.943dup (p.Ser315LysfsTer6) | |
1 | g.154465277G>A | CA342628608 | IL6R | c.1304G>A (p.Ser435Asn) c.*112G>A (n.*112G>A) n.502G>A c.1068G>A (p.Gln356=) c.*145G>A (n.*145G>A) c.1352G>A (p.Ser451Asn) c.1451G>A (p.Ser484Asn) c.1403G>A (p.Ser468Asn) c.1397G>A (p.Ser466Asn) c.1298G>A (p.Ser433Asn) c.944G>A (p.Ser315Asn) | |
1 | g.154465277G>C | CA342628609 | IL6R | c.1304G>C (p.Ser435Thr) c.*112G>C (n.*112G>C) n.502G>C c.1068G>C (p.Gln356His) c.*145G>C (n.*145G>C) c.1352G>C (p.Ser451Thr) c.1451G>C (p.Ser484Thr) c.1403G>C (p.Ser468Thr) c.1397G>C (p.Ser466Thr) c.1298G>C (p.Ser433Thr) c.944G>C (p.Ser315Thr) | |
1 | g.154465277G>T | CA342628610 | IL6R | c.1304G>T (p.Ser435Ile) c.*112G>T (n.*112G>T) n.502G>T c.1068G>T (p.Gln356His) c.*145G>T (n.*145G>T) c.1352G>T (p.Ser451Ile) c.1451G>T (p.Ser484Ile) c.1403G>T (p.Ser468Ile) c.1397G>T (p.Ser466Ile) c.1298G>T (p.Ser433Ile) c.944G>T (p.Ser315Ile) | |
1 | g.154465278C>A | CA342628611 | IL6R | c.1305C>A (p.Ser435Arg) c.*113C>A (n.*113C>A) n.503C>A c.1069C>A (p.Gln357Lys) c.*146C>A (n.*146C>A) c.1353C>A (p.Ser451Arg) c.1452C>A (p.Ser484Arg) c.1404C>A (p.Ser468Arg) c.1398C>A (p.Ser466Arg) c.1299C>A (p.Ser433Arg) c.945C>A (p.Ser315Arg) | |
1 | g.154465278C= | CA2480880312 | IL6R | c.1305C= (p.Ser435=) c.*113C= (n.*113C=) n.503C= c.1069C= (p.Gln357=) c.*146C= (n.*146C=) c.1353C= (p.Ser451=) c.1452C= (p.Ser484=) c.1404C= (p.Ser468=) c.1398C= (p.Ser466=) c.1299C= (p.Ser433=) c.945C= (p.Ser315=) | |
1 | g.154465278C>G | CA342628612 | IL6R | c.1305C>G (p.Ser435Arg) c.*113C>G (n.*113C>G) n.503C>G c.1069C>G (p.Gln357Glu) c.*146C>G (n.*146C>G) c.1353C>G (p.Ser451Arg) c.1452C>G (p.Ser484Arg) c.1404C>G (p.Ser468Arg) c.1398C>G (p.Ser466Arg) c.1299C>G (p.Ser433Arg) c.945C>G (p.Ser315Arg) | |
1 | g.154465278C>T | CA1129344 | IL6R | c.1305C>T (p.Ser435=) c.*113C>T (n.*113C>T) n.503C>T c.1069C>T (p.Gln357Ter) c.*146C>T (n.*146C>T) c.1353C>T (p.Ser451=) c.1452C>T (p.Ser484=) c.1404C>T (p.Ser468=) c.1398C>T (p.Ser466=) c.1299C>T (p.Ser433=) c.945C>T (p.Ser315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465279A>C | CA342628613 | IL6R | c.1306A>C (p.Ser436Arg) c.*114A>C (n.*114A>C) n.504A>C c.1070A>C (p.Gln357Pro) c.*147A>C (n.*147A>C) c.1354A>C (p.Ser452Arg) c.1453A>C (p.Ser485Arg) c.1405A>C (p.Ser469Arg) c.1399A>C (p.Ser467Arg) c.1300A>C (p.Ser434Arg) c.946A>C (p.Ser316Arg) | |
1 | g.154465279A>G | CA342628614 | IL6R | c.1306A>G (p.Ser436Gly) c.*114A>G (n.*114A>G) n.504A>G c.1070A>G (p.Gln357Arg) c.*147A>G (n.*147A>G) c.1354A>G (p.Ser452Gly) c.1453A>G (p.Ser485Gly) c.1405A>G (p.Ser469Gly) c.1399A>G (p.Ser467Gly) c.1300A>G (p.Ser434Gly) c.946A>G (p.Ser316Gly) | |
1 | g.154465279A>T | CA342628615 | IL6R | c.1306A>T (p.Ser436Cys) c.*114A>T (n.*114A>T) n.504A>T c.1070A>T (p.Gln357Leu) c.*147A>T (n.*147A>T) c.1354A>T (p.Ser452Cys) c.1453A>T (p.Ser485Cys) c.1405A>T (p.Ser469Cys) c.1399A>T (p.Ser467Cys) c.1300A>T (p.Ser434Cys) c.946A>T (p.Ser316Cys) | |
1 | g.154465280G>A | CA342628617 | IL6R | c.1307G>A (p.Ser436Asn) c.*115G>A (n.*115G>A) n.505G>A c.1071G>A (p.Gln357=) c.*148G>A (n.*148G>A) c.1355G>A (p.Ser452Asn) c.1454G>A (p.Ser485Asn) c.1406G>A (p.Ser469Asn) c.1400G>A (p.Ser467Asn) c.1301G>A (p.Ser434Asn) c.947G>A (p.Ser316Asn) | |
1 | g.154465280G>C | CA342628618 | IL6R | c.1307G>C (p.Ser436Thr) c.*115G>C (n.*115G>C) n.505G>C c.1071G>C (p.Gln357His) c.*148G>C (n.*148G>C) c.1355G>C (p.Ser452Thr) c.1454G>C (p.Ser485Thr) c.1406G>C (p.Ser469Thr) c.1400G>C (p.Ser467Thr) c.1301G>C (p.Ser434Thr) c.947G>C (p.Ser316Thr) | gnomAD v4 |
1 | g.154465280G>T | CA342628616 | IL6R | c.1307G>T (p.Ser436Ile) c.*115G>T (n.*115G>T) n.505G>T c.1071G>T (p.Gln357His) c.*148G>T (n.*148G>T) c.1355G>T (p.Ser452Ile) c.1454G>T (p.Ser485Ile) c.1406G>T (p.Ser469Ile) c.1400G>T (p.Ser467Ile) c.1301G>T (p.Ser434Ile) c.947G>T (p.Ser316Ile) | |
1 | g.154465281C>A | CA342628619 | IL6R | c.1308C>A (p.Ser436Arg) c.*116C>A (n.*116C>A) n.506C>A c.1072C>A (p.Pro358Thr) c.*149C>A (n.*149C>A) c.1356C>A (p.Ser452Arg) c.1455C>A (p.Ser485Arg) c.1407C>A (p.Ser469Arg) c.1401C>A (p.Ser467Arg) c.1302C>A (p.Ser434Arg) c.948C>A (p.Ser316Arg) | |
1 | g.154465281C= | CA1147508469 | IL6R | c.1308C= (p.Ser436=) c.*116C= (n.*116C=) n.506C= c.1072C= (p.Pro358=) c.*149C= (n.*149C=) c.1356C= (p.Ser452=) c.1455C= (p.Ser485=) c.1407C= (p.Ser469=) c.1401C= (p.Ser467=) c.1302C= (p.Ser434=) c.948C= (p.Ser316=) | |
1 | g.154465281C>G | CA342628620 | IL6R | c.1308C>G (p.Ser436Arg) c.*116C>G (n.*116C>G) n.506C>G c.1072C>G (p.Pro358Ala) c.*149C>G (n.*149C>G) c.1356C>G (p.Ser452Arg) c.1455C>G (p.Ser485Arg) c.1407C>G (p.Ser469Arg) c.1401C>G (p.Ser467Arg) c.1302C>G (p.Ser434Arg) c.948C>G (p.Ser316Arg) | |
1 | g.154465281C>T | CA1129345 | IL6R | c.1308C>T (p.Ser436=) c.*116C>T (n.*116C>T) n.506C>T c.1072C>T (p.Pro358Ser) c.*149C>T (n.*149C>T) c.1356C>T (p.Ser452=) c.1455C>T (p.Ser485=) c.1407C>T (p.Ser469=) c.1401C>T (p.Ser467=) c.1302C>T (p.Ser434=) c.948C>T (p.Ser316=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465282C>A | CA342628621 | IL6R | c.1309C>A (p.Leu437Met) c.*117C>A (n.*117C>A) n.507C>A c.1073C>A (p.Pro358His) c.*150C>A (n.*150C>A) c.1357C>A (p.Leu453Met) c.1456C>A (p.Leu486Met) c.1408C>A (p.Leu470Met) c.1402C>A (p.Leu468Met) c.1303C>A (p.Leu435Met) c.949C>A (p.Leu317Met) | |
1 | g.154465282C>G | CA342628622 | IL6R | c.1309C>G (p.Leu437Val) c.*117C>G (n.*117C>G) n.507C>G c.1073C>G (p.Pro358Arg) c.*150C>G (n.*150C>G) c.1357C>G (p.Leu453Val) c.1456C>G (p.Leu486Val) c.1408C>G (p.Leu470Val) c.1402C>G (p.Leu468Val) c.1303C>G (p.Leu435Val) c.949C>G (p.Leu317Val) | |
1 | g.154465282C>T | CA420975991 | IL6R | c.1309C>T (p.Leu437=) c.*117C>T (n.*117C>T) n.507C>T c.1073C>T (p.Pro358Leu) c.*150C>T (n.*150C>T) c.1357C>T (p.Leu453=) c.1456C>T (p.Leu486=) c.1408C>T (p.Leu470=) c.1402C>T (p.Leu468=) c.1303C>T (p.Leu435=) c.949C>T (p.Leu317=) | gnomAD v4 |
1 | g.154465285_154465291del | CA2746186212 | IL6R | c.1312_1318del (p.Gly438ThrfsTer?) c.*120_*126del (n.*120_*126del) n.510_516del c.1076_1082del (p.Gly359AspfsTer30) c.*153_*159del (n.*153_*159del) c.1360_1366del (p.Gly454ThrfsTer?) c.1459_1465del (p.Gly487ThrfsTer?) c.1411_1417del (p.Gly471ThrfsTer?) c.1405_1411del (p.Gly469ThrfsTer?) c.1306_1312del (p.Gly436ThrfsTer?) c.952_958del (p.Gly318ThrfsTer?) | |
1 | g.154465283T>A | CA342628625 | IL6R | c.1310T>A (p.Leu437Gln) c.*118T>A (n.*118T>A) n.508T>A c.1074T>A (p.Pro358=) c.*151T>A (n.*151T>A) c.1358T>A (p.Leu453Gln) c.1457T>A (p.Leu486Gln) c.1409T>A (p.Leu470Gln) c.1403T>A (p.Leu468Gln) c.1304T>A (p.Leu435Gln) c.950T>A (p.Leu317Gln) | |
1 | g.154465283T>C | CA342628624 | IL6R | c.1310T>C (p.Leu437Pro) c.*118T>C (n.*118T>C) n.508T>C c.1074T>C (p.Pro358=) c.*151T>C (n.*151T>C) c.1358T>C (p.Leu453Pro) c.1457T>C (p.Leu486Pro) c.1409T>C (p.Leu470Pro) c.1403T>C (p.Leu468Pro) c.1304T>C (p.Leu435Pro) c.950T>C (p.Leu317Pro) | |
1 | g.154465283T>G | CA342628623 | IL6R | c.1310T>G (p.Leu437Arg) c.*118T>G (n.*118T>G) n.508T>G c.1074T>G (p.Pro358=) c.*151T>G (n.*151T>G) c.1358T>G (p.Leu453Arg) c.1457T>G (p.Leu486Arg) c.1409T>G (p.Leu470Arg) c.1403T>G (p.Leu468Arg) c.1304T>G (p.Leu435Arg) c.950T>G (p.Leu317Arg) | |
1 | g.154465284G>A | CA420975992 | IL6R | c.1311G>A (p.Leu437=) c.*119G>A (n.*119G>A) n.509G>A c.1075G>A (p.Gly359Arg) c.*152G>A (n.*152G>A) c.1359G>A (p.Leu453=) c.1458G>A (p.Leu486=) c.1410G>A (p.Leu470=) c.1404G>A (p.Leu468=) c.1305G>A (p.Leu435=) c.951G>A (p.Leu317=) | |
1 | g.154465284G>C | CA420975993 | IL6R | c.1311G>C (p.Leu437=) c.*119G>C (n.*119G>C) n.509G>C c.1075G>C (p.Gly359Arg) c.*152G>C (n.*152G>C) c.1359G>C (p.Leu453=) c.1458G>C (p.Leu486=) c.1410G>C (p.Leu470=) c.1404G>C (p.Leu468=) c.1305G>C (p.Leu435=) c.951G>C (p.Leu317=) | |
1 | g.154465284G>T | CA420975994 | IL6R | c.1311G>T (p.Leu437=) c.*119G>T (n.*119G>T) n.509G>T c.1075G>T (p.Gly359Trp) c.*152G>T (n.*152G>T) c.1359G>T (p.Leu453=) c.1458G>T (p.Leu486=) c.1410G>T (p.Leu470=) c.1404G>T (p.Leu468=) c.1305G>T (p.Leu435=) c.951G>T (p.Leu317=) | |
1 | g.154465285G>A | CA342628626 | IL6R | c.1312G>A (p.Gly438Arg) c.*120G>A (n.*120G>A) n.510G>A c.1076G>A (p.Gly359Glu) c.*153G>A (n.*153G>A) c.1360G>A (p.Gly454Arg) c.1459G>A (p.Gly487Arg) c.1411G>A (p.Gly471Arg) c.1405G>A (p.Gly469Arg) c.1306G>A (p.Gly436Arg) c.952G>A (p.Gly318Arg) | |
1 | g.154465285G>C | CA342628627 | IL6R | c.1312G>C (p.Gly438Arg) c.*120G>C (n.*120G>C) n.510G>C c.1076G>C (p.Gly359Ala) c.*153G>C (n.*153G>C) c.1360G>C (p.Gly454Arg) c.1459G>C (p.Gly487Arg) c.1411G>C (p.Gly471Arg) c.1405G>C (p.Gly469Arg) c.1306G>C (p.Gly436Arg) c.952G>C (p.Gly318Arg) | |
1 | g.154465285G= | CA2480880313 | IL6R | c.1312G= (p.Gly438=) c.*120G= (n.*120G=) n.510G= c.1076G= (p.Gly359=) c.*153G= (n.*153G=) c.1360G= (p.Gly454=) c.1459G= (p.Gly487=) c.1411G= (p.Gly471=) c.1405G= (p.Gly469=) c.1306G= (p.Gly436=) c.952G= (p.Gly318=) | |
1 | g.154465285G>T | CA342628628 | IL6R | c.1312G>T (p.Gly438Trp) c.*120G>T (n.*120G>T) n.510G>T c.1076G>T (p.Gly359Val) c.*153G>T (n.*153G>T) c.1360G>T (p.Gly454Trp) c.1459G>T (p.Gly487Trp) c.1411G>T (p.Gly471Trp) c.1405G>T (p.Gly469Trp) c.1306G>T (p.Gly436Trp) c.952G>T (p.Gly318Trp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154465286G>A | CA30816533 | IL6R | c.1313G>A (p.Gly438Glu) c.*121G>A (n.*121G>A) n.511G>A c.1077G>A (p.Gly359=) c.*154G>A (n.*154G>A) c.1361G>A (p.Gly454Glu) c.1460G>A (p.Gly487Glu) c.1412G>A (p.Gly471Glu) c.1406G>A (p.Gly469Glu) c.1307G>A (p.Gly436Glu) c.953G>A (p.Gly318Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465286G>C | CA342628629 | IL6R | c.1313G>C (p.Gly438Ala) c.*121G>C (n.*121G>C) n.511G>C c.1077G>C (p.Gly359=) c.*154G>C (n.*154G>C) c.1361G>C (p.Gly454Ala) c.1460G>C (p.Gly487Ala) c.1412G>C (p.Gly471Ala) c.1406G>C (p.Gly469Ala) c.1307G>C (p.Gly436Ala) c.953G>C (p.Gly318Ala) | gnomAD v4 |
1 | g.154465286G= | CA2480880314 | IL6R | c.1313G= (p.Gly438=) c.*121G= (n.*121G=) n.511G= c.1077G= (p.Gly359=) c.*154G= (n.*154G=) c.1361G= (p.Gly454=) c.1460G= (p.Gly487=) c.1412G= (p.Gly471=) c.1406G= (p.Gly469=) c.1307G= (p.Gly436=) c.953G= (p.Gly318=) | |
1 | g.154465286G>T | CA342628630 | IL6R | c.1313G>T (p.Gly438Val) c.*121G>T (n.*121G>T) n.511G>T c.1077G>T (p.Gly359=) c.*154G>T (n.*154G>T) c.1361G>T (p.Gly454Val) c.1460G>T (p.Gly487Val) c.1412G>T (p.Gly471Val) c.1406G>T (p.Gly469Val) c.1307G>T (p.Gly436Val) c.953G>T (p.Gly318Val) | |
1 | g.154465287G>A | CA420975997 | IL6R | c.1314G>A (p.Gly438=) c.*122G>A (n.*122G>A) n.512G>A c.1078G>A (p.Val360Ile) c.*155G>A (n.*155G>A) c.1362G>A (p.Gly454=) c.1461G>A (p.Gly487=) c.1413G>A (p.Gly471=) c.1407G>A (p.Gly469=) c.1308G>A (p.Gly436=) c.954G>A (p.Gly318=) | |
1 | g.154465287G>C | CA420975995 | IL6R | c.1314G>C (p.Gly438=) c.*122G>C (n.*122G>C) n.512G>C c.1078G>C (p.Val360Leu) c.*155G>C (n.*155G>C) c.1362G>C (p.Gly454=) c.1461G>C (p.Gly487=) c.1413G>C (p.Gly471=) c.1407G>C (p.Gly469=) c.1308G>C (p.Gly436=) c.954G>C (p.Gly318=) | |
1 | g.154465287G>T | CA420975996 | IL6R | c.1314G>T (p.Gly438=) c.*122G>T (n.*122G>T) n.512G>T c.1078G>T (p.Val360Phe) c.*155G>T (n.*155G>T) c.1362G>T (p.Gly454=) c.1461G>T (p.Gly487=) c.1413G>T (p.Gly471=) c.1407G>T (p.Gly469=) c.1308G>T (p.Gly436=) c.954G>T (p.Gly318=) | gnomAD v4 |
1 | g.154465288T>A | CA342628631 | IL6R | c.1315T>A (p.Ser439Thr) c.*123T>A (n.*123T>A) n.513T>A c.1079T>A (p.Val360Asp) c.*156T>A (n.*156T>A) c.1363T>A (p.Ser455Thr) c.1462T>A (p.Ser488Thr) c.1414T>A (p.Ser472Thr) c.1408T>A (p.Ser470Thr) c.1309T>A (p.Ser437Thr) c.955T>A (p.Ser319Thr) | |
1 | g.154465288T>C | CA342628633 | IL6R | c.1315T>C (p.Ser439Pro) c.*123T>C (n.*123T>C) n.513T>C c.1079T>C (p.Val360Ala) c.*156T>C (n.*156T>C) c.1363T>C (p.Ser455Pro) c.1462T>C (p.Ser488Pro) c.1414T>C (p.Ser472Pro) c.1408T>C (p.Ser470Pro) c.1309T>C (p.Ser437Pro) c.955T>C (p.Ser319Pro) | |
1 | g.154465288T>G | CA342628632 | IL6R | c.1315T>G (p.Ser439Ala) c.*123T>G (n.*123T>G) n.513T>G c.1079T>G (p.Val360Gly) c.*156T>G (n.*156T>G) c.1363T>G (p.Ser455Ala) c.1462T>G (p.Ser488Ala) c.1414T>G (p.Ser472Ala) c.1408T>G (p.Ser470Ala) c.1309T>G (p.Ser437Ala) c.955T>G (p.Ser319Ala) | |
1 | g.154465289C>A | CA342628634 | IL6R | c.1316C>A (p.Ser439Tyr) c.*124C>A (n.*124C>A) n.514C>A c.1080C>A (p.Val360=) c.*157C>A (n.*157C>A) c.1364C>A (p.Ser455Tyr) c.1463C>A (p.Ser488Tyr) c.1415C>A (p.Ser472Tyr) c.1409C>A (p.Ser470Tyr) c.1310C>A (p.Ser437Tyr) c.956C>A (p.Ser319Tyr) | |
1 | g.154465289C>G | CA342628635 | IL6R | c.1316C>G (p.Ser439Cys) c.*124C>G (n.*124C>G) n.514C>G c.1080C>G (p.Val360=) c.*157C>G (n.*157C>G) c.1364C>G (p.Ser455Cys) c.1463C>G (p.Ser488Cys) c.1415C>G (p.Ser472Cys) c.1409C>G (p.Ser470Cys) c.1310C>G (p.Ser437Cys) c.956C>G (p.Ser319Cys) | |
1 | g.154465289C>T | CA342628636 | IL6R | c.1316C>T (p.Ser439Phe) c.*124C>T (n.*124C>T) n.514C>T c.1080C>T (p.Val360=) c.*157C>T (n.*157C>T) c.1364C>T (p.Ser455Phe) c.1463C>T (p.Ser488Phe) c.1415C>T (p.Ser472Phe) c.1409C>T (p.Ser470Phe) c.1310C>T (p.Ser437Phe) c.956C>T (p.Ser319Phe) | |
1 | g.154465290T>A | CA420975998 | IL6R | c.1317T>A (p.Ser439=) c.*125T>A (n.*125T>A) n.515T>A c.1081T>A (p.Ter361Arg) c.*158T>A (n.*158T>A) c.1365T>A (p.Ser455=) c.1464T>A (p.Ser488=) c.1416T>A (p.Ser472=) c.1410T>A (p.Ser470=) c.1311T>A (p.Ser437=) c.957T>A (p.Ser319=) | |
1 | g.154465290T>C | CA420975999 | IL6R | c.1317T>C (p.Ser439=) c.*125T>C (n.*125T>C) n.515T>C c.1081T>C (p.Ter361Arg) c.*158T>C (n.*158T>C) c.1365T>C (p.Ser455=) c.1464T>C (p.Ser488=) c.1416T>C (p.Ser472=) c.1410T>C (p.Ser470=) c.1311T>C (p.Ser437=) c.957T>C (p.Ser319=) | gnomAD v4 |
1 | g.154465290T>G | CA420976000 | IL6R | c.1317T>G (p.Ser439=) c.*125T>G (n.*125T>G) n.515T>G c.1081T>G (p.Ter361Gly) c.*158T>G (n.*158T>G) c.1365T>G (p.Ser455=) c.1464T>G (p.Ser488=) c.1416T>G (p.Ser472=) c.1410T>G (p.Ser470=) c.1311T>G (p.Ser437=) c.957T>G (p.Ser319=) | |
1 | g.154465291G>A | CA342628637 | IL6R | c.1318G>A (p.Asp440Asn) c.*126G>A (n.*126G>A) n.516G>A c.1082G>A (p.Ter361=) c.*159G>A (n.*159G>A) c.1366G>A (p.Asp456Asn) c.1465G>A (p.Asp489Asn) c.1417G>A (p.Asp473Asn) c.1411G>A (p.Asp471Asn) c.1312G>A (p.Asp438Asn) c.958G>A (p.Asp320Asn) | |
1 | g.154465291G>C | CA342628638 | IL6R | c.1318G>C (p.Asp440His) c.*126G>C (n.*126G>C) n.516G>C c.1082G>C (p.Ter361Ser) c.*159G>C (n.*159G>C) c.1366G>C (p.Asp456His) c.1465G>C (p.Asp489His) c.1417G>C (p.Asp473His) c.1411G>C (p.Asp471His) c.1312G>C (p.Asp438His) c.958G>C (p.Asp320His) | |
1 | g.154465291G>T | CA342628639 | IL6R | c.1318G>T (p.Asp440Tyr) c.*126G>T (n.*126G>T) n.516G>T c.1082G>T (p.Ter361Leu) c.*159G>T (n.*159G>T) c.1366G>T (p.Asp456Tyr) c.1465G>T (p.Asp489Tyr) c.1417G>T (p.Asp473Tyr) c.1411G>T (p.Asp471Tyr) c.1312G>T (p.Asp438Tyr) c.958G>T (p.Asp320Tyr) | |
1 | g.154465292A>C | CA342628640 | IL6R | c.1319A>C (p.Asp440Ala) c.*127A>C (n.*127A>C) n.517A>C c.1083A>C (p.Ter361Cys) c.*160A>C (n.*160A>C) c.1367A>C (p.Asp456Ala) c.1466A>C (p.Asp489Ala) c.1418A>C (p.Asp473Ala) c.1412A>C (p.Asp471Ala) c.1313A>C (p.Asp438Ala) c.959A>C (p.Asp320Ala) | |
1 | g.154465292A>G | CA342628641 | IL6R | c.1319A>G (p.Asp440Gly) c.*127A>G (n.*127A>G) n.517A>G c.1083A>G (p.Ter361Trp) c.*160A>G (n.*160A>G) c.1367A>G (p.Asp456Gly) c.1466A>G (p.Asp489Gly) c.1418A>G (p.Asp473Gly) c.1412A>G (p.Asp471Gly) c.1313A>G (p.Asp438Gly) c.959A>G (p.Asp320Gly) | |
1 | g.154465292A>T | CA342628642 | IL6R | c.1319A>T (p.Asp440Val) c.*127A>T (n.*127A>T) n.517A>T c.1083A>T (p.Ter361Cys) c.*160A>T (n.*160A>T) c.1367A>T (p.Asp456Val) c.1466A>T (p.Asp489Val) c.1418A>T (p.Asp473Val) c.1412A>T (p.Asp471Val) c.1313A>T (p.Asp438Val) c.959A>T (p.Asp320Val) | |
1 | g.154465293C>A | CA342628643 | IL6R | c.1320C>A (p.Asp440Glu) c.*128C>A (n.*128C>A) n.518C>A c.*1C>A (n.*1C>A) c.*161C>A (n.*161C>A) c.1368C>A (p.Asp456Glu) c.1467C>A (p.Asp489Glu) c.1419C>A (p.Asp473Glu) c.1413C>A (p.Asp471Glu) c.1314C>A (p.Asp438Glu) c.960C>A (p.Asp320Glu) | |
1 | g.154465293C>G | CA342628644 | IL6R | c.1320C>G (p.Asp440Glu) c.*128C>G (n.*128C>G) n.518C>G c.*1C>G (n.*1C>G) c.*161C>G (n.*161C>G) c.1368C>G (p.Asp456Glu) c.1467C>G (p.Asp489Glu) c.1419C>G (p.Asp473Glu) c.1413C>G (p.Asp471Glu) c.1314C>G (p.Asp438Glu) c.960C>G (p.Asp320Glu) | |
1 | g.154465293C>T | CA420976001 | IL6R | c.1320C>T (p.Asp440=) c.*128C>T (n.*128C>T) n.518C>T c.*1C>T (n.*1C>T) c.*161C>T (n.*161C>T) c.1368C>T (p.Asp456=) c.1467C>T (p.Asp489=) c.1419C>T (p.Asp473=) c.1413C>T (p.Asp471=) c.1314C>T (p.Asp438=) c.960C>T (p.Asp320=) | |
1 | g.154465294A>C | CA342628647 | IL6R | c.1321A>C (p.Asn441His) c.*129A>C (n.*129A>C) n.519A>C c.*2A>C (n.*2A>C) c.*162A>C (n.*162A>C) c.1369A>C (p.Asn457His) c.1468A>C (p.Asn490His) c.1420A>C (p.Asn474His) c.1414A>C (p.Asn472His) c.1315A>C (p.Asn439His) c.961A>C (p.Asn321His) | |
1 | g.154465294A>G | CA342628646 | IL6R | c.1321A>G (p.Asn441Asp) c.*129A>G (n.*129A>G) n.519A>G c.*2A>G (n.*2A>G) c.*162A>G (n.*162A>G) c.1369A>G (p.Asn457Asp) c.1468A>G (p.Asn490Asp) c.1420A>G (p.Asn474Asp) c.1414A>G (p.Asn472Asp) c.1315A>G (p.Asn439Asp) c.961A>G (p.Asn321Asp) | |
1 | g.154465294A>T | CA342628645 | IL6R | c.1321A>T (p.Asn441Tyr) c.*129A>T (n.*129A>T) n.519A>T c.*2A>T (n.*2A>T) c.*162A>T (n.*162A>T) c.1369A>T (p.Asn457Tyr) c.1468A>T (p.Asn490Tyr) c.1420A>T (p.Asn474Tyr) c.1414A>T (p.Asn472Tyr) c.1315A>T (p.Asn439Tyr) c.961A>T (p.Asn321Tyr) | |
1 | g.154465295A>C | CA342628648 | IL6R | c.1322A>C (p.Asn441Thr) c.*130A>C (n.*130A>C) n.520A>C c.*3A>C (n.*3A>C) c.*163A>C (n.*163A>C) c.1370A>C (p.Asn457Thr) c.1469A>C (p.Asn490Thr) c.1421A>C (p.Asn474Thr) c.1415A>C (p.Asn472Thr) c.1316A>C (p.Asn439Thr) c.962A>C (p.Asn321Thr) | |
1 | g.154465295A>G | CA342628650 | IL6R | c.1322A>G (p.Asn441Ser) c.*130A>G (n.*130A>G) n.520A>G c.*3A>G (n.*3A>G) c.*163A>G (n.*163A>G) c.1370A>G (p.Asn457Ser) c.1469A>G (p.Asn490Ser) c.1421A>G (p.Asn474Ser) c.1415A>G (p.Asn472Ser) c.1316A>G (p.Asn439Ser) c.962A>G (p.Asn321Ser) | gnomAD v4 |
1 | g.154465295A>T | CA342628649 | IL6R | c.1322A>T (p.Asn441Ile) c.*130A>T (n.*130A>T) n.520A>T c.*3A>T (n.*3A>T) c.*163A>T (n.*163A>T) c.1370A>T (p.Asn457Ile) c.1469A>T (p.Asn490Ile) c.1421A>T (p.Asn474Ile) c.1415A>T (p.Asn472Ile) c.1316A>T (p.Asn439Ile) c.962A>T (p.Asn321Ile) | |
1 | g.154465296T>A | CA342628651 | IL6R | c.1323T>A (p.Asn441Lys) c.*131T>A (n.*131T>A) n.521T>A c.*4T>A (n.*4T>A) c.*164T>A (n.*164T>A) c.1371T>A (p.Asn457Lys) c.1470T>A (p.Asn490Lys) c.1422T>A (p.Asn474Lys) c.1416T>A (p.Asn472Lys) c.1317T>A (p.Asn439Lys) c.963T>A (p.Asn321Lys) | |
1 | g.154465296T>C | CA420976002 | IL6R | c.1323T>C (p.Asn441=) c.*131T>C (n.*131T>C) n.521T>C c.*4T>C (n.*4T>C) c.*164T>C (n.*164T>C) c.1371T>C (p.Asn457=) c.1470T>C (p.Asn490=) c.1422T>C (p.Asn474=) c.1416T>C (p.Asn472=) c.1317T>C (p.Asn439=) c.963T>C (p.Asn321=) | |
1 | g.154465296T>G | CA342628652 | IL6R | c.1323T>G (p.Asn441Lys) c.*131T>G (n.*131T>G) n.521T>G c.*4T>G (n.*4T>G) c.*164T>G (n.*164T>G) c.1371T>G (p.Asn457Lys) c.1470T>G (p.Asn490Lys) c.1422T>G (p.Asn474Lys) c.1416T>G (p.Asn472Lys) c.1317T>G (p.Asn439Lys) c.963T>G (p.Asn321Lys) | |
1 | g.154465297A= | CA2480880315 | IL6R | c.1324A= (p.Thr442=) c.*132A= (n.*132A=) n.522A= c.*5A= (n.*5A=) c.*165A= (n.*165A=) c.1372A= (p.Thr458=) c.1471A= (p.Thr491=) c.1423A= (p.Thr475=) c.1417A= (p.Thr473=) c.1318A= (p.Thr440=) c.964A= (p.Thr322=) | |
1 | g.154465297A>C | CA1129346 | IL6R | c.1324A>C (p.Thr442Pro) c.*132A>C (n.*132A>C) n.522A>C c.*5A>C (n.*5A>C) c.*165A>C (n.*165A>C) c.1372A>C (p.Thr458Pro) c.1471A>C (p.Thr491Pro) c.1423A>C (p.Thr475Pro) c.1417A>C (p.Thr473Pro) c.1318A>C (p.Thr440Pro) c.964A>C (p.Thr322Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465297A>G | CA342628653 | IL6R | c.1324A>G (p.Thr442Ala) c.*132A>G (n.*132A>G) n.522A>G c.*5A>G (n.*5A>G) c.*165A>G (n.*165A>G) c.1372A>G (p.Thr458Ala) c.1471A>G (p.Thr491Ala) c.1423A>G (p.Thr475Ala) c.1417A>G (p.Thr473Ala) c.1318A>G (p.Thr440Ala) c.964A>G (p.Thr322Ala) | |
1 | g.154465297A>T | CA342628654 | IL6R | c.1324A>T (p.Thr442Ser) c.*132A>T (n.*132A>T) n.522A>T c.*5A>T (n.*5A>T) c.*165A>T (n.*165A>T) c.1372A>T (p.Thr458Ser) c.1471A>T (p.Thr491Ser) c.1423A>T (p.Thr475Ser) c.1417A>T (p.Thr473Ser) c.1318A>T (p.Thr440Ser) c.964A>T (p.Thr322Ser) | |
1 | g.154465298C>A | CA342628655 | IL6R | c.1325C>A (p.Thr442Asn) c.*133C>A (n.*133C>A) n.523C>A c.*6C>A (n.*6C>A) c.*166C>A (n.*166C>A) c.1373C>A (p.Thr458Asn) c.1472C>A (p.Thr491Asn) c.1424C>A (p.Thr475Asn) c.1418C>A (p.Thr473Asn) c.1319C>A (p.Thr440Asn) c.965C>A (p.Thr322Asn) | |
1 | g.154465298C>G | CA342628656 | IL6R | c.1325C>G (p.Thr442Ser) c.*133C>G (n.*133C>G) n.523C>G c.*6C>G (n.*6C>G) c.*166C>G (n.*166C>G) c.1373C>G (p.Thr458Ser) c.1472C>G (p.Thr491Ser) c.1424C>G (p.Thr475Ser) c.1418C>G (p.Thr473Ser) c.1319C>G (p.Thr440Ser) c.965C>G (p.Thr322Ser) | gnomAD v4 |
1 | g.154465298C>T | CA342628657 | IL6R | c.1325C>T (p.Thr442Ile) c.*133C>T (n.*133C>T) n.523C>T c.*6C>T (n.*6C>T) c.*166C>T (n.*166C>T) c.1373C>T (p.Thr458Ile) c.1472C>T (p.Thr491Ile) c.1424C>T (p.Thr475Ile) c.1418C>T (p.Thr473Ile) c.1319C>T (p.Thr440Ile) c.965C>T (p.Thr322Ile) | gnomAD v4 |
1 | g.154465299del | CA2573909562 | IL6R | c.1326del (p.Ser443ArgfsTer?) c.*134del (n.*134del) n.524del c.*7del (n.*7del) c.*167del (n.*167del) c.1374del (p.Ser459ArgfsTer?) c.1473del (p.Ser492ArgfsTer?) c.1425del (p.Ser476ArgfsTer?) c.1419del (p.Ser474ArgfsTer?) c.1320del (p.Ser441ArgfsTer?) c.966del (p.Ser323ArgfsTer?) | |
1 | g.154465299C>A | CA420976004 | IL6R | c.1326C>A (p.Thr442=) c.*134C>A (n.*134C>A) n.524C>A c.*7C>A (n.*7C>A) c.*167C>A (n.*167C>A) c.1374C>A (p.Thr458=) c.1473C>A (p.Thr491=) c.1425C>A (p.Thr475=) c.1419C>A (p.Thr473=) c.1320C>A (p.Thr440=) c.966C>A (p.Thr322=) | |
1 | g.154465299C= | CA2480880316 | IL6R | c.1326C= (p.Thr442=) c.*134C= (n.*134C=) n.524C= c.*7C= (n.*7C=) c.*167C= (n.*167C=) c.1374C= (p.Thr458=) c.1473C= (p.Thr491=) c.1425C= (p.Thr475=) c.1419C= (p.Thr473=) c.1320C= (p.Thr440=) c.966C= (p.Thr322=) | |
1 | g.154465299C>G | CA420976005 | IL6R | c.1326C>G (p.Thr442=) c.*134C>G (n.*134C>G) n.524C>G c.*7C>G (n.*7C>G) c.*167C>G (n.*167C>G) c.1374C>G (p.Thr458=) c.1473C>G (p.Thr491=) c.1425C>G (p.Thr475=) c.1419C>G (p.Thr473=) c.1320C>G (p.Thr440=) c.966C>G (p.Thr322=) | |
1 | g.154465299C>T | CA1129347 | IL6R | c.1326C>T (p.Thr442=) c.*134C>T (n.*134C>T) n.524C>T c.*7C>T (n.*7C>T) c.*167C>T (n.*167C>T) c.1374C>T (p.Thr458=) c.1473C>T (p.Thr491=) c.1425C>T (p.Thr475=) c.1419C>T (p.Thr473=) c.1320C>T (p.Thr440=) c.966C>T (p.Thr322=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154465300T>A | CA342628658 | IL6R | c.1327T>A (p.Ser443Thr) c.*135T>A (n.*135T>A) n.525T>A c.*8T>A (n.*8T>A) c.*168T>A (n.*168T>A) c.1375T>A (p.Ser459Thr) c.1474T>A (p.Ser492Thr) c.1426T>A (p.Ser476Thr) c.1420T>A (p.Ser474Thr) c.1321T>A (p.Ser441Thr) c.967T>A (p.Ser323Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154465300T>C | CA342628659 | IL6R | c.1327T>C (p.Ser443Pro) c.*135T>C (n.*135T>C) n.525T>C c.*8T>C (n.*8T>C) c.*168T>C (n.*168T>C) c.1375T>C (p.Ser459Pro) c.1474T>C (p.Ser492Pro) c.1426T>C (p.Ser476Pro) c.1420T>C (p.Ser474Pro) c.1321T>C (p.Ser441Pro) c.967T>C (p.Ser323Pro) | |
1 | g.154465300T>G | CA1129348 | IL6R | c.1327T>G (p.Ser443Ala) c.*135T>G (n.*135T>G) n.525T>G c.*8T>G (n.*8T>G) c.*168T>G (n.*168T>G) c.1375T>G (p.Ser459Ala) c.1474T>G (p.Ser492Ala) c.1426T>G (p.Ser476Ala) c.1420T>G (p.Ser474Ala) c.1321T>G (p.Ser441Ala) c.967T>G (p.Ser323Ala) | dbSNP ExAC gnomAD v4 |
1 | g.154465300T= | CA2480880318 | IL6R | c.1327T= (p.Ser443=) c.*135T= (n.*135T=) n.525T= c.*8T= (n.*8T=) c.*168T= (n.*168T=) c.1375T= (p.Ser459=) c.1474T= (p.Ser492=) c.1426T= (p.Ser476=) c.1420T= (p.Ser474=) c.1321T= (p.Ser441=) c.967T= (p.Ser323=) | |
1 | g.154465300_154465301delinsTC | CA2480880317 | IL6R | c.1327_1328delinsTC (p.Ser443=) c.*135_*136delinsTC (n.*135_*136delinsTC) n.525_526delinsTC c.*8_*9delinsTC (n.*8_*9delinsTC) c.*168_*169delinsTC (n.*168_*169delinsTC) c.1375_1376delinsTC (p.Ser459=) c.1474_1475delinsTC (p.Ser492=) c.1426_1427delinsTC (p.Ser476=) c.1420_1421delinsTC (p.Ser474=) c.1321_1322delinsTC (p.Ser441=) c.967_968delinsTC (p.Ser323=) | |
1 | g.154465301del | CA1129349 | IL6R | c.1328del (p.Ser443Ter) c.*136del (n.*136del) n.526del c.*9del (n.*9del) c.*169del (n.*169del) c.1376del (p.Ser459Ter) c.1475del (p.Ser492Ter) c.1427del (p.Ser476Ter) c.1421del (p.Ser474Ter) c.1322del (p.Ser441Ter) c.968del (p.Ser323Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154465301C>A | CA30816557 | IL6R | c.1328C>A (p.Ser443Ter) c.*136C>A (n.*136C>A) n.526C>A c.*9C>A (n.*9C>A) c.*169C>A (n.*169C>A) c.1376C>A (p.Ser459Ter) c.1475C>A (p.Ser492Ter) c.1427C>A (p.Ser476Ter) c.1421C>A (p.Ser474Ter) c.1322C>A (p.Ser441Ter) c.968C>A (p.Ser323Ter) | dbSNP |
1 | g.154465301C= | CA2480880319 | IL6R | c.1328C= (p.Ser443=) c.*136C= (n.*136C=) n.526C= c.*9C= (n.*9C=) c.*169C= (n.*169C=) c.1376C= (p.Ser459=) c.1475C= (p.Ser492=) c.1427C= (p.Ser476=) c.1421C= (p.Ser474=) c.1322C= (p.Ser441=) c.968C= (p.Ser323=) | |
1 | g.154465301C>G | CA1129350 | IL6R | c.1328C>G (p.Ser443Trp) c.*136C>G (n.*136C>G) n.526C>G c.*9C>G (n.*9C>G) c.*169C>G (n.*169C>G) c.1376C>G (p.Ser459Trp) c.1475C>G (p.Ser492Trp) c.1427C>G (p.Ser476Trp) c.1421C>G (p.Ser474Trp) c.1322C>G (p.Ser441Trp) c.968C>G (p.Ser323Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154465301C>T | CA30816562 | IL6R | c.1328C>T (p.Ser443Leu) c.*136C>T (n.*136C>T) n.526C>T c.*9C>T (n.*9C>T) c.*169C>T (n.*169C>T) c.1376C>T (p.Ser459Leu) c.1475C>T (p.Ser492Leu) c.1427C>T (p.Ser476Leu) c.1421C>T (p.Ser474Leu) c.1322C>T (p.Ser441Leu) c.968C>T (p.Ser323Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465302G>A | CA1129351 | IL6R | c.1329G>A (p.Ser443=) c.*137G>A (n.*137G>A) n.527G>A c.*10G>A (n.*10G>A) c.*170G>A (n.*170G>A) c.1377G>A (p.Ser459=) c.1476G>A (p.Ser492=) c.1428G>A (p.Ser476=) c.1422G>A (p.Ser474=) c.1323G>A (p.Ser441=) c.969G>A (p.Ser323=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.154465302G>C | CA420976007 | IL6R | c.1329G>C (p.Ser443=) c.*137G>C (n.*137G>C) n.527G>C c.*10G>C (n.*10G>C) c.*170G>C (n.*170G>C) c.1377G>C (p.Ser459=) c.1476G>C (p.Ser492=) c.1428G>C (p.Ser476=) c.1422G>C (p.Ser474=) c.1323G>C (p.Ser441=) c.969G>C (p.Ser323=) | gnomAD v4 |
1 | g.154465302G= | CA2480880321 | IL6R | c.1329G= (p.Ser443=) c.*137G= (n.*137G=) n.527G= c.*10G= (n.*10G=) c.*170G= (n.*170G=) c.1377G= (p.Ser459=) c.1476G= (p.Ser492=) c.1428G= (p.Ser476=) c.1422G= (p.Ser474=) c.1323G= (p.Ser441=) c.969G= (p.Ser323=) | |
1 | g.154465302G>T | CA420976008 | IL6R | c.1329G>T (p.Ser443=) c.*137G>T (n.*137G>T) n.527G>T c.*10G>T (n.*10G>T) c.*170G>T (n.*170G>T) c.1377G>T (p.Ser459=) c.1476G>T (p.Ser492=) c.1428G>T (p.Ser476=) c.1422G>T (p.Ser474=) c.1323G>T (p.Ser441=) c.969G>T (p.Ser323=) | COSMIC |
1 | g.154465302_154465303insGG | CA2480880320 | IL6R | c.1329_1330insGG (p.Ser444GlyfsTer?) c.*137_*138insGG (n.*137_*138insGG) n.527_528insGG c.*10_*11insGG (n.*10_*11insGG) c.*170_*171insGG (n.*170_*171insGG) c.1377_1378insGG (p.Ser460GlyfsTer?) c.1476_1477insGG (p.Ser493GlyfsTer?) c.1428_1429insGG (p.Ser477GlyfsTer?) c.1422_1423insGG (p.Ser475GlyfsTer?) c.1323_1324insGG (p.Ser442GlyfsTer?) c.969_970insGG (p.Ser324GlyfsTer?) | dbSNP |
1 | g.154465303A>C | CA342628660 | IL6R | c.1330A>C (p.Ser444Arg) c.*138A>C (n.*138A>C) n.528A>C c.*11A>C (n.*11A>C) c.*171A>C (n.*171A>C) c.1378A>C (p.Ser460Arg) c.1477A>C (p.Ser493Arg) c.1429A>C (p.Ser477Arg) c.1423A>C (p.Ser475Arg) c.1324A>C (p.Ser442Arg) c.970A>C (p.Ser324Arg) | |
1 | g.154465303A>G | CA342628661 | IL6R | c.1330A>G (p.Ser444Gly) c.*138A>G (n.*138A>G) n.528A>G c.*11A>G (n.*11A>G) c.*171A>G (n.*171A>G) c.1378A>G (p.Ser460Gly) c.1477A>G (p.Ser493Gly) c.1429A>G (p.Ser477Gly) c.1423A>G (p.Ser475Gly) c.1324A>G (p.Ser442Gly) c.970A>G (p.Ser324Gly) | |
1 | g.154465303A>T | CA342628662 | IL6R | c.1330A>T (p.Ser444Cys) c.*138A>T (n.*138A>T) n.528A>T c.*11A>T (n.*11A>T) c.*171A>T (n.*171A>T) c.1378A>T (p.Ser460Cys) c.1477A>T (p.Ser493Cys) c.1429A>T (p.Ser477Cys) c.1423A>T (p.Ser475Cys) c.1324A>T (p.Ser442Cys) c.970A>T (p.Ser324Cys) | |
1 | g.154465304G>A | CA342628663 | IL6R | c.1331G>A (p.Ser444Asn) c.*139G>A (n.*139G>A) n.529G>A c.*12G>A (n.*12G>A) c.*172G>A (n.*172G>A) c.1379G>A (p.Ser460Asn) c.1478G>A (p.Ser493Asn) c.1430G>A (p.Ser477Asn) c.1424G>A (p.Ser475Asn) c.1325G>A (p.Ser442Asn) c.971G>A (p.Ser324Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.154465304G>C | CA342628664 | IL6R | c.1331G>C (p.Ser444Thr) c.*139G>C (n.*139G>C) n.529G>C c.*12G>C (n.*12G>C) c.*172G>C (n.*172G>C) c.1379G>C (p.Ser460Thr) c.1478G>C (p.Ser493Thr) c.1430G>C (p.Ser477Thr) c.1424G>C (p.Ser475Thr) c.1325G>C (p.Ser442Thr) c.971G>C (p.Ser324Thr) | |
1 | g.154465304G= | CA2480880322 | IL6R | c.1331G= (p.Ser444=) c.*139G= (n.*139G=) n.529G= c.*12G= (n.*12G=) c.*172G= (n.*172G=) c.1379G= (p.Ser460=) c.1478G= (p.Ser493=) c.1430G= (p.Ser477=) c.1424G= (p.Ser475=) c.1325G= (p.Ser442=) c.971G= (p.Ser324=) | |
1 | g.154465304G>T | CA342628665 | IL6R | c.1331G>T (p.Ser444Ile) c.*139G>T (n.*139G>T) n.529G>T c.*12G>T (n.*12G>T) c.*172G>T (n.*172G>T) c.1379G>T (p.Ser460Ile) c.1478G>T (p.Ser493Ile) c.1430G>T (p.Ser477Ile) c.1424G>T (p.Ser475Ile) c.1325G>T (p.Ser442Ile) c.971G>T (p.Ser324Ile) | |
1 | g.154465305C>A | CA342628666 | IL6R | c.1332C>A (p.Ser444Arg) c.*140C>A (n.*140C>A) n.530C>A c.*13C>A (n.*13C>A) c.*173C>A (n.*173C>A) c.1380C>A (p.Ser460Arg) c.1479C>A (p.Ser493Arg) c.1431C>A (p.Ser477Arg) c.1425C>A (p.Ser475Arg) c.1326C>A (p.Ser442Arg) c.972C>A (p.Ser324Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154465305C= | CA2480880323 | IL6R | c.1332C= (p.Ser444=) c.*140C= (n.*140C=) n.530C= c.*13C= (n.*13C=) c.*173C= (n.*173C=) c.1380C= (p.Ser460=) c.1479C= (p.Ser493=) c.1431C= (p.Ser477=) c.1425C= (p.Ser475=) c.1326C= (p.Ser442=) c.972C= (p.Ser324=) | |
1 | g.154465305C>G | CA342628667 | IL6R | c.1332C>G (p.Ser444Arg) c.*140C>G (n.*140C>G) n.530C>G c.*13C>G (n.*13C>G) c.*173C>G (n.*173C>G) c.1380C>G (p.Ser460Arg) c.1479C>G (p.Ser493Arg) c.1431C>G (p.Ser477Arg) c.1425C>G (p.Ser475Arg) c.1326C>G (p.Ser442Arg) c.972C>G (p.Ser324Arg) | |
1 | g.154465305C>T | CA420976009 | IL6R | c.1332C>T (p.Ser444=) c.*140C>T (n.*140C>T) n.530C>T c.*13C>T (n.*13C>T) c.*173C>T (n.*173C>T) c.1380C>T (p.Ser460=) c.1479C>T (p.Ser493=) c.1431C>T (p.Ser477=) c.1425C>T (p.Ser475=) c.1326C>T (p.Ser442=) c.972C>T (p.Ser324=) | |
1 | g.154465306C>A | CA342628668 | IL6R | c.1333C>A (p.His445Asn) c.*141C>A (n.*141C>A) n.531C>A c.*14C>A (n.*14C>A) c.*174C>A (n.*174C>A) c.1381C>A (p.His461Asn) c.1480C>A (p.His494Asn) c.1432C>A (p.His478Asn) c.1426C>A (p.His476Asn) c.1327C>A (p.His443Asn) c.973C>A (p.His325Asn) | |
1 | g.154465306C= | CA2480880324 | IL6R | c.1333C= (p.His445=) c.*141C= (n.*141C=) n.531C= c.*14C= (n.*14C=) c.*174C= (n.*174C=) c.1381C= (p.His461=) c.1480C= (p.His494=) c.1432C= (p.His478=) c.1426C= (p.His476=) c.1327C= (p.His443=) c.973C= (p.His325=) | |
1 | g.154465306C>G | CA342628669 | IL6R | c.1333C>G (p.His445Asp) c.*141C>G (n.*141C>G) n.531C>G c.*14C>G (n.*14C>G) c.*174C>G (n.*174C>G) c.1381C>G (p.His461Asp) c.1480C>G (p.His494Asp) c.1432C>G (p.His478Asp) c.1426C>G (p.His476Asp) c.1327C>G (p.His443Asp) c.973C>G (p.His325Asp) | |
1 | g.154465306C>T | CA1129352 | IL6R | c.1333C>T (p.His445Tyr) c.*141C>T (n.*141C>T) n.531C>T c.*14C>T (n.*14C>T) c.*174C>T (n.*174C>T) c.1381C>T (p.His461Tyr) c.1480C>T (p.His494Tyr) c.1432C>T (p.His478Tyr) c.1426C>T (p.His476Tyr) c.1327C>T (p.His443Tyr) c.973C>T (p.His325Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154465307A>C | CA342628670 | IL6R | c.1334A>C (p.His445Pro) c.*142A>C (n.*142A>C) n.532A>C c.*15A>C (n.*15A>C) c.*175A>C (n.*175A>C) c.1382A>C (p.His461Pro) c.1481A>C (p.His494Pro) c.1433A>C (p.His478Pro) c.1427A>C (p.His476Pro) c.1328A>C (p.His443Pro) c.974A>C (p.His325Pro) | |
1 | g.154465307A>G | CA342628671 | IL6R | c.1334A>G (p.His445Arg) c.*142A>G (n.*142A>G) n.532A>G c.*15A>G (n.*15A>G) c.*175A>G (n.*175A>G) c.1382A>G (p.His461Arg) c.1481A>G (p.His494Arg) c.1433A>G (p.His478Arg) c.1427A>G (p.His476Arg) c.1328A>G (p.His443Arg) c.974A>G (p.His325Arg) | gnomAD v4 |
1 | g.154465307A>T | CA342628672 | IL6R | c.1334A>T (p.His445Leu) c.*142A>T (n.*142A>T) n.532A>T c.*15A>T (n.*15A>T) c.*175A>T (n.*175A>T) c.1382A>T (p.His461Leu) c.1481A>T (p.His494Leu) c.1433A>T (p.His478Leu) c.1427A>T (p.His476Leu) c.1328A>T (p.His443Leu) c.974A>T (p.His325Leu) | |
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) |