Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.154465274_154465275insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCCCA2604852919IL6Rc.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
1g.154465243C>ACA342628545IL6Rc.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)
1g.154465243C=CA1141952646IL6Rc.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=)
1g.154465243C>GCA342628546IL6Rc.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)
1g.154465243C>TCA1129336IL6Rc.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
1g.154465244T>ACA342628547IL6Rc.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)
1g.154465244T>CCA342628549IL6Rc.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)
1g.154465244T>GCA342628548IL6Rc.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)
1g.154465245T>ACA420975957IL6Rc.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=)
1g.154465245T>CCA420975958IL6Rc.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=)
1g.154465245T>GCA420975959IL6Rc.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=)
1g.154465246G>ACA342628550IL6Rc.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
1g.154465246G>CCA342628551IL6Rc.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
1g.154465246G=CA2480880298IL6Rc.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=)
1g.154465246G>TCA342628552IL6Rc.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
1g.154465247T>ACA342628553IL6Rc.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)
1g.154465247T>CCA342628554IL6Rc.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)
1g.154465247T>GCA342628555IL6Rc.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)
1g.154465248T>ACA420975962IL6Rc.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=)
1g.154465248T>CCA420975963IL6Rc.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=)
1g.154465248T>GCA420975964IL6Rc.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=)
1g.154465249C>ACA342628556IL6Rc.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)
1g.154465249C>GCA342628557IL6Rc.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)
1g.154465249C>TCA342628558IL6Rc.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)
1g.154465250C>ACA342628560IL6Rc.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)
1g.154465250C>GCA342628561IL6Rc.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)
1g.154465250C>TCA342628559IL6Rc.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
1g.154465251T>ACA420975965IL6Rc.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=)
1g.154465251T>CCA420975966IL6Rc.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=)
1g.154465251T>GCA420975967IL6Rc.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=)
1g.154465252C>ACA342628562IL6Rc.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)
1g.154465252C>GCA342628563IL6Rc.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
1g.154465252C>TCA342628564IL6Rc.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
1g.154465253T>ACA342628565IL6Rc.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)
1g.154465253T>CCA342628566IL6Rc.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)
1g.154465253T>GCA342628567IL6Rc.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)
1g.154465254C>ACA420975968IL6Rc.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
1g.154465254C=CA2480880299IL6Rc.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=)
1g.154465254C>GCA420975970IL6Rc.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=)
1g.154465254C>TCA420975969IL6Rc.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
1g.154465255A>CCA342628568IL6Rc.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)
1g.154465255A>GCA342628569IL6Rc.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)
1g.154465255A>TCA342628570IL6Rc.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
1g.154465256T>ACA342628571IL6Rc.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)
1g.154465256T>CCA1129337IL6Rc.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
1g.154465256T>GCA342628572IL6Rc.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)
1g.154465256T=CA2480880300IL6Rc.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=)
1g.154465257C>ACA420975971IL6Rc.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=)
1g.154465257C=CA2480880301IL6Rc.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=)
1g.154465257C>GCA342628573IL6Rc.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
1g.154465257C>TCA420975972IL6Rc.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
1g.154465258T>ACA342628576IL6Rc.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)
1g.154465258T>CCA342628575IL6Rc.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)
1g.154465258T>GCA342628574IL6Rc.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)
1g.154465259C>ACA342628577IL6Rc.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)
1g.154465259C>GCA342628578IL6Rc.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)
1g.154465259C>TCA342628579IL6Rc.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
1g.154465260C>ACA420975973IL6Rc.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=)
1g.154465260C>GCA420975974IL6Rc.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=)
1g.154465260C>TCA420975975IL6Rc.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=)
1g.154465261C>ACA342628580IL6Rc.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)
1g.154465261C>GCA342628581IL6Rc.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)
1g.154465261C>TCA342628582IL6Rc.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)
1g.154465262C>ACA342628583IL6Rc.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)
1g.154465262C>GCA342628584IL6Rc.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)
1g.154465262C>TCA342628585IL6Rc.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)
1g.154465263A>CCA420975976IL6Rc.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=)
1g.154465263A>GCA420975977IL6Rc.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=)
1g.154465263A>TCA420975978IL6Rc.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=)
1g.154465263_154465273delinsACCGGTGTCCCCA2480880302IL6Rc.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=)
1g.154465264C>ACA342628586IL6Rc.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)
1g.154465264C=CA2480880303IL6Rc.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=)
1g.154465264C>GCA342628587IL6Rc.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)
1g.154465264C>TCA342628588IL6Rc.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
1g.154465266_154465275delCA1129338IL6Rc.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
1g.154465265C>ACA342628589IL6Rc.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)
1g.154465265C=CA1143366893IL6Rc.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=)
1g.154465265C>GCA342628590IL6Rc.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
1g.154465265C>TCA1129339IL6Rc.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
1g.154465266G>ACA30816507IL6Rc.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
1g.154465266G>CCA420975980IL6Rc.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
1g.154465266G=CA2480880304IL6Rc.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=)
1g.154465266G>TCA420975979IL6Rc.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=)
1g.154465267G>ACA342628592IL6Rc.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)
1g.154465267G>CCA342628591IL6Rc.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
1g.154465267G=CA2480880305IL6Rc.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=)
1g.154465267G>TCA342628593IL6Rc.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)
1g.154465268T>ACA342628594IL6Rc.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)
1g.154465268T>CCA1129340IL6Rc.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
1g.154465268T>GCA342628595IL6Rc.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)
1g.154465268T=CA2480880306IL6Rc.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=)
1g.154465269G>ACA420975982IL6Rc.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
1g.154465269G>CCA420975983IL6Rc.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=)
1g.154465269G>TCA420975984IL6Rc.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
1g.154465270T>ACA342628596IL6Rc.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)
1g.154465270T>CCA30816512IL6Rc.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
1g.154465270T>GCA342628597IL6Rc.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)
1g.154465270T=CA2480880308IL6Rc.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=)
1g.154465270_154465271delinsTCCA2480880307IL6Rc.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=)
1g.154465271C>ACA342628598IL6Rc.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
1g.154465271C=CA2480880309IL6Rc.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=)
1g.154465271C>GCA342628599IL6Rc.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)
1g.154465271C>TCA342628600IL6Rc.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
1g.154465275delCA1129341IL6Rc.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
1g.154465272C>ACA420975987IL6Rc.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=)
1g.154465272C=CA2480880310IL6Rc.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=)
1g.154465272C>GCA420975985IL6Rc.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=)
1g.154465272C>TCA420975986IL6Rc.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
1g.154465273C>ACA342628601IL6Rc.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)
1g.154465273C=CA1142341921IL6Rc.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=)
1g.154465273C>GCA342628602IL6Rc.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)
1g.154465273C>TCA1129342IL6Rc.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
1g.154465274C>ACA342628605IL6Rc.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)
1g.154465274C>GCA342628604IL6Rc.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
1g.154465274C>TCA342628603IL6Rc.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)
1g.154465275C>ACA420975988IL6Rc.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=)
1g.154465275C>GCA420975989IL6Rc.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=)
1g.154465275C>TCA420975990IL6Rc.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=)
1g.154465276A=CA2480880311IL6Rc.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=)
1g.154465276A>CCA342628606IL6Rc.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)
1g.154465276A>GCA1129343IL6Rc.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
1g.154465276A>TCA342628607IL6Rc.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)
1g.154465276dupCA2573909516IL6Rc.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)
1g.154465277G>ACA342628608IL6Rc.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)
1g.154465277G>CCA342628609IL6Rc.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)
1g.154465277G>TCA342628610IL6Rc.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)
1g.154465278C>ACA342628611IL6Rc.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)
1g.154465278C=CA2480880312IL6Rc.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=)
1g.154465278C>GCA342628612IL6Rc.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)
1g.154465278C>TCA1129344IL6Rc.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
1g.154465279A>CCA342628613IL6Rc.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)
1g.154465279A>GCA342628614IL6Rc.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)
1g.154465279A>TCA342628615IL6Rc.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)
1g.154465280G>ACA342628617IL6Rc.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)
1g.154465280G>CCA342628618IL6Rc.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
1g.154465280G>TCA342628616IL6Rc.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)
1g.154465281C>ACA342628619IL6Rc.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)
1g.154465281C=CA1147508469IL6Rc.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=)
1g.154465281C>GCA342628620IL6Rc.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)
1g.154465281C>TCA1129345IL6Rc.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
1g.154465282C>ACA342628621IL6Rc.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)
1g.154465282C>GCA342628622IL6Rc.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)
1g.154465282C>TCA420975991IL6Rc.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
1g.154465285_154465291delCA2746186212IL6Rc.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?)
1g.154465283T>ACA342628625IL6Rc.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)
1g.154465283T>CCA342628624IL6Rc.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)
1g.154465283T>GCA342628623IL6Rc.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)
1g.154465284G>ACA420975992IL6Rc.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=)
1g.154465284G>CCA420975993IL6Rc.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=)
1g.154465284G>TCA420975994IL6Rc.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=)
1g.154465285G>ACA342628626IL6Rc.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)
1g.154465285G>CCA342628627IL6Rc.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)
1g.154465285G=CA2480880313IL6Rc.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=)
1g.154465285G>TCA342628628IL6Rc.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
1g.154465286G>ACA30816533IL6Rc.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
1g.154465286G>CCA342628629IL6Rc.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
1g.154465286G=CA2480880314IL6Rc.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=)
1g.154465286G>TCA342628630IL6Rc.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)
1g.154465287G>ACA420975997IL6Rc.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=)
1g.154465287G>CCA420975995IL6Rc.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=)
1g.154465287G>TCA420975996IL6Rc.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
1g.154465288T>ACA342628631IL6Rc.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)
1g.154465288T>CCA342628633IL6Rc.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)
1g.154465288T>GCA342628632IL6Rc.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)
1g.154465289C>ACA342628634IL6Rc.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)
1g.154465289C>GCA342628635IL6Rc.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)
1g.154465289C>TCA342628636IL6Rc.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)
1g.154465290T>ACA420975998IL6Rc.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=)
1g.154465290T>CCA420975999IL6Rc.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
1g.154465290T>GCA420976000IL6Rc.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=)
1g.154465291G>ACA342628637IL6Rc.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)
1g.154465291G>CCA342628638IL6Rc.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)
1g.154465291G>TCA342628639IL6Rc.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)
1g.154465292A>CCA342628640IL6Rc.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)
1g.154465292A>GCA342628641IL6Rc.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)
1g.154465292A>TCA342628642IL6Rc.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)
1g.154465293C>ACA342628643IL6Rc.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)
1g.154465293C>GCA342628644IL6Rc.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)
1g.154465293C>TCA420976001IL6Rc.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=)
1g.154465294A>CCA342628647IL6Rc.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)
1g.154465294A>GCA342628646IL6Rc.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)
1g.154465294A>TCA342628645IL6Rc.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)
1g.154465295A>CCA342628648IL6Rc.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)
1g.154465295A>GCA342628650IL6Rc.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
1g.154465295A>TCA342628649IL6Rc.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)
1g.154465296T>ACA342628651IL6Rc.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)
1g.154465296T>CCA420976002IL6Rc.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=)
1g.154465296T>GCA342628652IL6Rc.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)
1g.154465297A=CA2480880315IL6Rc.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=)
1g.154465297A>CCA1129346IL6Rc.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
1g.154465297A>GCA342628653IL6Rc.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)
1g.154465297A>TCA342628654IL6Rc.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)
1g.154465298C>ACA342628655IL6Rc.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)
1g.154465298C>GCA342628656IL6Rc.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
1g.154465298C>TCA342628657IL6Rc.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
1g.154465299delCA2573909562IL6Rc.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?)
1g.154465299C>ACA420976004IL6Rc.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=)
1g.154465299C=CA2480880316IL6Rc.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=)
1g.154465299C>GCA420976005IL6Rc.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=)
1g.154465299C>TCA1129347IL6Rc.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
1g.154465300T>ACA342628658IL6Rc.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
1g.154465300T>CCA342628659IL6Rc.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)
1g.154465300T>GCA1129348IL6Rc.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
1g.154465300T=CA2480880318IL6Rc.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=)
1g.154465300_154465301delinsTCCA2480880317IL6Rc.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=)
1g.154465301delCA1129349IL6Rc.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
1g.154465301C>ACA30816557IL6Rc.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
1g.154465301C=CA2480880319IL6Rc.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=)
1g.154465301C>GCA1129350IL6Rc.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
1g.154465301C>TCA30816562IL6Rc.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
1g.154465302G>ACA1129351IL6Rc.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
1g.154465302G>CCA420976007IL6Rc.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
1g.154465302G=CA2480880321IL6Rc.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=)
1g.154465302G>TCA420976008IL6Rc.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
1g.154465302_154465303insGGCA2480880320IL6Rc.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
1g.154465303A>CCA342628660IL6Rc.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)
1g.154465303A>GCA342628661IL6Rc.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)
1g.154465303A>TCA342628662IL6Rc.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)
1g.154465304G>ACA342628663IL6Rc.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
1g.154465304G>CCA342628664IL6Rc.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)
1g.154465304G=CA2480880322IL6Rc.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=)
1g.154465304G>TCA342628665IL6Rc.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)
1g.154465305C>ACA342628666IL6Rc.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
1g.154465305C=CA2480880323IL6Rc.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=)
1g.154465305C>GCA342628667IL6Rc.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)
1g.154465305C>TCA420976009IL6Rc.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=)
1g.154465306C>ACA342628668IL6Rc.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)
1g.154465306C=CA2480880324IL6Rc.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=)
1g.154465306C>GCA342628669IL6Rc.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)
1g.154465306C>TCA1129352IL6Rc.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
1g.154465307A>CCA342628670IL6Rc.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)
1g.154465307A>GCA342628671IL6Rc.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
1g.154465307A>TCA342628672IL6Rc.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)
1g.154465308C>ACA342628673IL6Rc.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)
1g.154465308C>GCA342628674IL6Rc.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)
1g.154465308C>TCA420976010IL6Rc.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=)
1g.154465309A=CA2480880325IL6Rc.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=)
1g.154465309A>CCA342628675IL6Rc.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
1g.154465309A>GCA342628676IL6Rc.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)
1g.154465309A>TCA342628677IL6Rc.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
1g.154465310delCA2648156787IL6Rc.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
1g.154465310A>CCA342628678IL6Rc.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)
1g.154465310A>GCA342628679IL6Rc.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
1g.154465310A>TCA342628680IL6Rc.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)
1g.154465311C>ACA342628681IL6Rc.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)
1g.154465311C>GCA342628682IL6Rc.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)
1g.154465311C>TCA420976011IL6Rc.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=)
1g.154465312C>ACA420976012IL6Rc.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=)
1g.154465312C=CA2480880326IL6Rc.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=)
1g.154465312C>GCA342628683IL6Rc.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)
1g.154465312C>TCA1129353IL6Rc.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
1g.154465313G>ACA1129354IL6Rc.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
1g.154465313G>CCA342628684IL6Rc.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)
1g.154465313G=CA2480880327IL6Rc.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=)
1g.154465313G>TCA342628685IL6Rc.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
1g.154465314A=CA2480880328IL6Rc.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=)
1g.154465314A>CCA420976014IL6Rc.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
1g.154465314A>GCA1129355IL6Rc.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
1g.154465314A>TCA420976015IL6Rc.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=)
1g.154465315C>ACA342628686IL6Rc.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
1g.154465315C>GCA342628687IL6Rc.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)
1g.154465315C>TCA342628688IL6Rc.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)
1g.154465316C>ACA342628689IL6Rc.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)
1g.154465316C=CA2480880329IL6Rc.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=)
1g.154465316C>GCA342628690IL6Rc.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
1g.154465316C>TCA342628691IL6Rc.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
1g.154465316_154465317delinsCACA2480880330IL6Rc.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=)
1g.154465317delCA2480880331IL6Rc.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
1g.154465317A>CCA420976019IL6Rc.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=)
1g.154465317A>GCA420976018IL6Rc.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=)
1g.154465317A>TCA420976017IL6Rc.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=)
1g.154465318G>ACA342628692IL6Rc.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
1g.154465318G>CCA342628693IL6Rc.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)
1g.154465318G>TCA342628694IL6Rc.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)
1g.154465319A>CCA342628697IL6Rc.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)
1g.154465319A>GCA342628696IL6Rc.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)
1g.154465319A>TCA342628695IL6Rc.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)
1g.154465319_154465320delinsATCA2480880332IL6Rc.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=)
1g.154465320delCA2480880333IL6Rc.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
1g.154465320T>ACA342628698IL6Rc.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)
1g.154465320T>CCA420976020IL6Rc.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=)
1g.154465320T>GCA342628699IL6Rc.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)
1g.154465321G>ACA342628700IL6Rc.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)
1g.154465321G>CCA342628701IL6Rc.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)
1g.154465321G>TCA342628702IL6Rc.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)
1g.154465324_154465339delCA2573909651IL6Rc.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?)
1g.154465322C>ACA342628703IL6Rc.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)
1g.154465322C>GCA342628704IL6Rc.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)
1g.154465322C>TCA342628705IL6Rc.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)
1g.154465323C>ACA420976021IL6Rc.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=)
1g.154465323C=CA2480880334IL6Rc.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=)
1g.154465323C>GCA420976022IL6Rc.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
1g.154465323C>TCA420976023IL6Rc.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=)
1g.154465324A=CA1149117317IL6Rc.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=)
1g.154465324A>CCA420976024IL6Rc.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=)
1g.154465324A>GCA342628706IL6Rc.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)
1g.154465324A>TCA1129356IL6Rc.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
1g.154465325G>ACA342628707IL6Rc.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)
1g.154465325G>CCA1129357IL6Rc.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
1g.154465325G=CA1141885200IL6Rc.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=)
1g.154465325G>TCA342628708IL6Rc.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)
1g.154465326G>ACA420976025IL6Rc.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=)
1g.154465326G>CCA342628709IL6Rc.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)
1g.154465326G>TCA342628710IL6Rc.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)
1g.154465327G>ACA342628713IL6Rc.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)
1g.154465327G>CCA342628712IL6Rc.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)
1g.154465327G>TCA342628711IL6Rc.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)
1g.154465328A>CCA342628714IL6Rc.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)
1g.154465328A>GCA342628715IL6Rc.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)
1g.154465328A>TCA342628716IL6Rc.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
1g.154465329C>ACA342628717IL6Rc.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)
1g.154465329C>GCA342628718IL6Rc.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)
1g.154465329C>TCA420976026IL6Rc.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=)
1g.154465330C>ACA342628719IL6Rc.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)
1g.154465330C>GCA342628720IL6Rc.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)
1g.154465330C>TCA342628721IL6Rc.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)
1g.154465331C>ACA342628722IL6Rc.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)
1g.154465331C>GCA342628723IL6Rc.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)
1g.154465331C>TCA342628724IL6Rc.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)
1g.154465332A>CCA420976027IL6Rc.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=)
1g.154465332A>GCA420976028IL6Rc.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=)
1g.154465332A>TCA420976029IL6Rc.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=)
1g.154465333C>ACA420976030IL6Rc.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=)
1g.154465333C=CA2480880335IL6Rc.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=)
1g.154465333C>GCA342628725IL6Rc.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)
1g.154465333C>TCA1129358IL6Rc.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
1g.154465334G>ACA342628727IL6Rc.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
1g.154465334G>CCA342628728IL6Rc.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)
1g.154465334G=CA2480880336IL6Rc.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=)
1g.154465334G>TCA342628726IL6Rc.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)
1g.154465335G>ACA420976031IL6Rc.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
1g.154465335G>CCA420976032IL6Rc.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=)
1g.154465335G>TCA420976033IL6Rc.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=)
1g.154465336A>CCA342628729IL6Rc.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)
1g.154465336A>GCA342628730IL6Rc.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)
1g.154465336A>TCA342628731IL6Rc.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)
1g.154465337G>ACA30816613IL6Rc.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
1g.154465337G>CCA30816622IL6Rc.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
1g.154465337G=CA2480880337IL6Rc.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=)
1g.154465337G>TCA342628732IL6Rc.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)
1g.154465338C>ACA342628733IL6Rc.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)
1g.154465338C=CA1143495538IL6Rc.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=)
1g.154465338C>GCA30816632IL6Rc.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
1g.154465338C>TCA420976034IL6Rc.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=)
1g.154465339C>ACA342628734IL6Rc.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)
1g.154465339C=CA2480880338IL6Rc.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=)
1g.154465339C>GCA342628735IL6Rc.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)
1g.154465339C>TCA342628736IL6Rc.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
1g.154465340C>ACA342628739IL6Rc.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)
1g.154465340C>GCA342628738IL6Rc.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)
1g.154465340C>TCA342628737IL6Rc.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)
1g.154465341T>ACA420976035IL6Rc.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=)
1g.154465341T>CCA420976036IL6Rc.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=)
1g.154465341T>GCA420976037IL6Rc.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=)
1g.154465342T>ACA342628740IL6Rc.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)
1g.154465342T>CCA342628741IL6Rc.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)
1g.154465342T>GCA342628742IL6Rc.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)
1g.154465343A=CA1148419749IL6Rc.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=)
1g.154465343A>CCA1129359IL6Rc.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
1g.154465343A>GCA342628743IL6Rc.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
1g.154465343A>TCA342628744IL6Rc.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)

Number of alleles fetched