Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.154465203G>ACA1129326IL6Rc.1230G>A (p.Leu410=)
c.*38G>A (n.*38G>A)
n.543G>A
n.428G>A
c.994G>A (p.Gly332Arg)
c.*71G>A (n.*71G>A)
c.1278G>A (p.Leu426=)
c.1377G>A (p.Leu459=)
c.1329G>A (p.Leu443=)
c.1323G>A (p.Leu441=)
c.1224G>A (p.Leu408=)
c.870G>A (p.Leu290=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154465203G>CCA342628470IL6Rc.1230G>C (p.Leu410Phe)
c.*38G>C (n.*38G>C)
n.543G>C
n.428G>C
c.994G>C (p.Gly332Arg)
c.*71G>C (n.*71G>C)
c.1278G>C (p.Leu426Phe)
c.1377G>C (p.Leu459Phe)
c.1329G>C (p.Leu443Phe)
c.1323G>C (p.Leu441Phe)
c.1224G>C (p.Leu408Phe)
c.870G>C (p.Leu290Phe)
gnomAD v4
1g.154465203G=CA2480880282IL6Rc.1230G= (p.Leu410=)
c.*38G= (n.*38G=)
n.543G=
n.428G=
c.994G= (p.Gly332=)
c.*71G= (n.*71G=)
c.1278G= (p.Leu426=)
c.1377G= (p.Leu459=)
c.1329G= (p.Leu443=)
c.1323G= (p.Leu441=)
c.1224G= (p.Leu408=)
c.870G= (p.Leu290=)
1g.154465203G>TCA1129325IL6Rc.1230G>T (p.Leu410Phe)
c.*38G>T (n.*38G>T)
n.543G>T
n.428G>T
c.994G>T (p.Gly332Trp)
c.*71G>T (n.*71G>T)
c.1278G>T (p.Leu426Phe)
c.1377G>T (p.Leu459Phe)
c.1329G>T (p.Leu443Phe)
c.1323G>T (p.Leu441Phe)
c.1224G>T (p.Leu408Phe)
c.870G>T (p.Leu290Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.154465204G>ACA1129327IL6Rc.1231G>A (p.Gly411Arg)
c.*39G>A (n.*39G>A)
n.544G>A
n.429G>A
c.995G>A (p.Gly332Glu)
c.*72G>A (n.*72G>A)
c.1279G>A (p.Gly427Arg)
c.1378G>A (p.Gly460Arg)
c.1330G>A (p.Gly444Arg)
c.1324G>A (p.Gly442Arg)
c.1225G>A (p.Gly409Arg)
c.871G>A (p.Gly291Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154465204G>CCA342628471IL6Rc.1231G>C (p.Gly411Arg)
c.*39G>C (n.*39G>C)
n.544G>C
n.429G>C
c.995G>C (p.Gly332Ala)
c.*72G>C (n.*72G>C)
c.1279G>C (p.Gly427Arg)
c.1378G>C (p.Gly460Arg)
c.1330G>C (p.Gly444Arg)
c.1324G>C (p.Gly442Arg)
c.1225G>C (p.Gly409Arg)
c.871G>C (p.Gly291Arg)
COSMIC
1g.154465204G=CA2480880283IL6Rc.1231G= (p.Gly411=)
c.*39G= (n.*39G=)
n.544G=
n.429G=
c.995G= (p.Gly332=)
c.*72G= (n.*72G=)
c.1279G= (p.Gly427=)
c.1378G= (p.Gly460=)
c.1330G= (p.Gly444=)
c.1324G= (p.Gly442=)
c.1225G= (p.Gly409=)
c.871G= (p.Gly291=)
1g.154465204G>TCA342628472IL6Rc.1231G>T (p.Gly411Trp)
c.*39G>T (n.*39G>T)
n.544G>T
n.429G>T
c.995G>T (p.Gly332Val)
c.*72G>T (n.*72G>T)
c.1279G>T (p.Gly427Trp)
c.1378G>T (p.Gly460Trp)
c.1330G>T (p.Gly444Trp)
c.1324G>T (p.Gly442Trp)
c.1225G>T (p.Gly409Trp)
c.871G>T (p.Gly291Trp)
1g.154465205G>ACA342628473IL6Rc.1232G>A (p.Gly411Glu)
c.*40G>A (n.*40G>A)
n.545G>A
n.430G>A
c.996G>A (p.Gly332=)
c.*73G>A (n.*73G>A)
c.1280G>A (p.Gly427Glu)
c.1379G>A (p.Gly460Glu)
c.1331G>A (p.Gly444Glu)
c.1325G>A (p.Gly442Glu)
c.1226G>A (p.Gly409Glu)
c.872G>A (p.Gly291Glu)
1g.154465205G>CCA342628474IL6Rc.1232G>C (p.Gly411Ala)
c.*40G>C (n.*40G>C)
n.545G>C
n.430G>C
c.996G>C (p.Gly332=)
c.*73G>C (n.*73G>C)
c.1280G>C (p.Gly427Ala)
c.1379G>C (p.Gly460Ala)
c.1331G>C (p.Gly444Ala)
c.1325G>C (p.Gly442Ala)
c.1226G>C (p.Gly409Ala)
c.872G>C (p.Gly291Ala)
1g.154465205G>TCA342628475IL6Rc.1232G>T (p.Gly411Val)
c.*40G>T (n.*40G>T)
n.545G>T
n.430G>T
c.996G>T (p.Gly332=)
c.*73G>T (n.*73G>T)
c.1280G>T (p.Gly427Val)
c.1379G>T (p.Gly460Val)
c.1331G>T (p.Gly444Val)
c.1325G>T (p.Gly442Val)
c.1226G>T (p.Gly409Val)
c.872G>T (p.Gly291Val)
1g.154465206G>ACA420975897IL6Rc.1233G>A (p.Gly411=)
c.*41G>A (n.*41G>A)
n.546G>A
n.431G>A
c.997G>A (p.Ala333Thr)
c.*74G>A (n.*74G>A)
c.1281G>A (p.Gly427=)
c.1380G>A (p.Gly460=)
c.1332G>A (p.Gly444=)
c.1326G>A (p.Gly442=)
c.1227G>A (p.Gly409=)
c.873G>A (p.Gly291=)
dbSNP
1g.154465206G>CCA420975899IL6Rc.1233G>C (p.Gly411=)
c.*41G>C (n.*41G>C)
n.546G>C
n.431G>C
c.997G>C (p.Ala333Pro)
c.*74G>C (n.*74G>C)
c.1281G>C (p.Gly427=)
c.1380G>C (p.Gly460=)
c.1332G>C (p.Gly444=)
c.1326G>C (p.Gly442=)
c.1227G>C (p.Gly409=)
c.873G>C (p.Gly291=)
1g.154465206G=CA2480880284IL6Rc.1233G= (p.Gly411=)
c.*41G= (n.*41G=)
n.546G=
n.431G=
c.997G= (p.Ala333=)
c.*74G= (n.*74G=)
c.1281G= (p.Gly427=)
c.1380G= (p.Gly460=)
c.1332G= (p.Gly444=)
c.1326G= (p.Gly442=)
c.1227G= (p.Gly409=)
c.873G= (p.Gly291=)
1g.154465206G>TCA420975901IL6Rc.1233G>T (p.Gly411=)
c.*41G>T (n.*41G>T)
n.546G>T
n.431G>T
c.997G>T (p.Ala333Ser)
c.*74G>T (n.*74G>T)
c.1281G>T (p.Gly427=)
c.1380G>T (p.Gly460=)
c.1332G>T (p.Gly444=)
c.1326G>T (p.Gly442=)
c.1227G>T (p.Gly409=)
c.873G>T (p.Gly291=)
1g.154465207C>ACA342628477IL6Rc.1234C>A (p.Gln412Lys)
c.*42C>A (n.*42C>A)
n.547C>A
n.432C>A
c.998C>A (p.Ala333Glu)
c.*75C>A (n.*75C>A)
c.1282C>A (p.Gln428Lys)
c.1381C>A (p.Gln461Lys)
c.1333C>A (p.Gln445Lys)
c.1327C>A (p.Gln443Lys)
c.1228C>A (p.Gln410Lys)
c.874C>A (p.Gln292Lys)
1g.154465207C>GCA342628478IL6Rc.1234C>G (p.Gln412Glu)
c.*42C>G (n.*42C>G)
n.547C>G
n.432C>G
c.998C>G (p.Ala333Gly)
c.*75C>G (n.*75C>G)
c.1282C>G (p.Gln428Glu)
c.1381C>G (p.Gln461Glu)
c.1333C>G (p.Gln445Glu)
c.1327C>G (p.Gln443Glu)
c.1228C>G (p.Gln410Glu)
c.874C>G (p.Gln292Glu)
1g.154465207C>TCA342628476IL6Rc.1234C>T (p.Gln412Ter)
c.*42C>T (n.*42C>T)
n.547C>T
n.432C>T
c.998C>T (p.Ala333Val)
c.*75C>T (n.*75C>T)
c.1282C>T (p.Gln428Ter)
c.1381C>T (p.Gln461Ter)
c.1333C>T (p.Gln445Ter)
c.1327C>T (p.Gln443Ter)
c.1228C>T (p.Gln410Ter)
c.874C>T (p.Gln292Ter)
1g.154465208A>CCA342628479IL6Rc.1235A>C (p.Gln412Pro)
c.*43A>C (n.*43A>C)
n.548A>C
n.433A>C
c.999A>C (p.Ala333=)
c.*76A>C (n.*76A>C)
c.1283A>C (p.Gln428Pro)
c.1382A>C (p.Gln461Pro)
c.1334A>C (p.Gln445Pro)
c.1328A>C (p.Gln443Pro)
c.1229A>C (p.Gln410Pro)
c.875A>C (p.Gln292Pro)
1g.154465208A>GCA342628481IL6Rc.1235A>G (p.Gln412Arg)
c.*43A>G (n.*43A>G)
n.548A>G
n.433A>G
c.999A>G (p.Ala333=)
c.*76A>G (n.*76A>G)
c.1283A>G (p.Gln428Arg)
c.1382A>G (p.Gln461Arg)
c.1334A>G (p.Gln445Arg)
c.1328A>G (p.Gln443Arg)
c.1229A>G (p.Gln410Arg)
c.875A>G (p.Gln292Arg)
1g.154465208A>TCA342628480IL6Rc.1235A>T (p.Gln412Leu)
c.*43A>T (n.*43A>T)
n.548A>T
n.433A>T
c.999A>T (p.Ala333=)
c.*76A>T (n.*76A>T)
c.1283A>T (p.Gln428Leu)
c.1382A>T (p.Gln461Leu)
c.1334A>T (p.Gln445Leu)
c.1328A>T (p.Gln443Leu)
c.1229A>T (p.Gln410Leu)
c.875A>T (p.Gln292Leu)
1g.154465209G>ACA420975902IL6Rc.1236G>A (p.Gln412=)
c.*44G>A (n.*44G>A)
n.549G>A
n.434G>A
c.1000G>A (p.Ala334Thr)
c.*77G>A (n.*77G>A)
c.1284G>A (p.Gln428=)
c.1383G>A (p.Gln461=)
c.1335G>A (p.Gln445=)
c.1329G>A (p.Gln443=)
c.1230G>A (p.Gln410=)
c.876G>A (p.Gln292=)
gnomAD v4
1g.154465209G>CCA342628482IL6Rc.1236G>C (p.Gln412His)
c.*44G>C (n.*44G>C)
n.549G>C
n.434G>C
c.1000G>C (p.Ala334Pro)
c.*77G>C (n.*77G>C)
c.1284G>C (p.Gln428His)
c.1383G>C (p.Gln461His)
c.1335G>C (p.Gln445His)
c.1329G>C (p.Gln443His)
c.1230G>C (p.Gln410His)
c.876G>C (p.Gln292His)
1g.154465209G>TCA342628483IL6Rc.1236G>T (p.Gln412His)
c.*44G>T (n.*44G>T)
n.549G>T
n.434G>T
c.1000G>T (p.Ala334Ser)
c.*77G>T (n.*77G>T)
c.1284G>T (p.Gln428His)
c.1383G>T (p.Gln461His)
c.1335G>T (p.Gln445His)
c.1329G>T (p.Gln443His)
c.1230G>T (p.Gln410His)
c.876G>T (p.Gln292His)
1g.154465210C>ACA30816411IL6Rc.1237C>A (p.Leu413Met)
c.*45C>A (n.*45C>A)
n.550C>A
n.435C>A
c.1001C>A (p.Ala334Asp)
c.*78C>A (n.*78C>A)
c.1285C>A (p.Leu429Met)
c.1384C>A (p.Leu462Met)
c.1336C>A (p.Leu446Met)
c.1330C>A (p.Leu444Met)
c.1231C>A (p.Leu411Met)
c.877C>A (p.Leu293Met)
dbSNP
1g.154465210C=CA2480880285IL6Rc.1237C= (p.Leu413=)
c.*45C= (n.*45C=)
n.550C=
n.435C=
c.1001C= (p.Ala334=)
c.*78C= (n.*78C=)
c.1285C= (p.Leu429=)
c.1384C= (p.Leu462=)
c.1336C= (p.Leu446=)
c.1330C= (p.Leu444=)
c.1231C= (p.Leu411=)
c.877C= (p.Leu293=)
1g.154465210C>GCA342628484IL6Rc.1237C>G (p.Leu413Val)
c.*45C>G (n.*45C>G)
n.550C>G
n.435C>G
c.1001C>G (p.Ala334Gly)
c.*78C>G (n.*78C>G)
c.1285C>G (p.Leu429Val)
c.1384C>G (p.Leu462Val)
c.1336C>G (p.Leu446Val)
c.1330C>G (p.Leu444Val)
c.1231C>G (p.Leu411Val)
c.877C>G (p.Leu293Val)
1g.154465210C>TCA420975906IL6Rc.1237C>T (p.Leu413=)
c.*45C>T (n.*45C>T)
n.550C>T
n.435C>T
c.1001C>T (p.Ala334Val)
c.*78C>T (n.*78C>T)
c.1285C>T (p.Leu429=)
c.1384C>T (p.Leu462=)
c.1336C>T (p.Leu446=)
c.1330C>T (p.Leu444=)
c.1231C>T (p.Leu411=)
c.877C>T (p.Leu293=)
1g.154465211T>ACA342628485IL6Rc.1238T>A (p.Leu413Gln)
c.*46T>A (n.*46T>A)
n.551T>A
n.436T>A
c.1002T>A (p.Ala334=)
c.*79T>A (n.*79T>A)
c.1286T>A (p.Leu429Gln)
c.1385T>A (p.Leu462Gln)
c.1337T>A (p.Leu446Gln)
c.1331T>A (p.Leu444Gln)
c.1232T>A (p.Leu411Gln)
c.878T>A (p.Leu293Gln)
1g.154465211T>CCA342628486IL6Rc.1238T>C (p.Leu413Pro)
c.*46T>C (n.*46T>C)
n.551T>C
n.436T>C
c.1002T>C (p.Ala334=)
c.*79T>C (n.*79T>C)
c.1286T>C (p.Leu429Pro)
c.1385T>C (p.Leu462Pro)
c.1337T>C (p.Leu446Pro)
c.1331T>C (p.Leu444Pro)
c.1232T>C (p.Leu411Pro)
c.878T>C (p.Leu293Pro)
1g.154465211T>GCA342628487IL6Rc.1238T>G (p.Leu413Arg)
c.*46T>G (n.*46T>G)
n.551T>G
n.436T>G
c.1002T>G (p.Ala334=)
c.*79T>G (n.*79T>G)
c.1286T>G (p.Leu429Arg)
c.1385T>G (p.Leu462Arg)
c.1337T>G (p.Leu446Arg)
c.1331T>G (p.Leu444Arg)
c.1232T>G (p.Leu411Arg)
c.878T>G (p.Leu293Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154465211T=CA2480880286IL6Rc.1238T= (p.Leu413=)
c.*46T= (n.*46T=)
n.551T=
n.436T=
c.1002T= (p.Ala334=)
c.*79T= (n.*79T=)
c.1286T= (p.Leu429=)
c.1385T= (p.Leu462=)
c.1337T= (p.Leu446=)
c.1331T= (p.Leu444=)
c.1232T= (p.Leu411=)
c.878T= (p.Leu293=)
1g.154465211_154465222delinsTGGTCCCGGAGACA2480880287IL6Rc.1238_1249delinsTGGTCCCGGAGA (p.Leu413=)
c.*46_*57delinsTGGTCCCGGAGA (n.*46_*57delinsTGGTCCCGGAGA)
n.551_562delinsTGGTCCCGGAGA
n.436_447delinsTGGTCCCGGAGA
c.1002_1013delinsTGGTCCCGGAGA (p.Ala334=)
c.*79_*90delinsTGGTCCCGGAGA (n.*79_*90delinsTGGTCCCGGAGA)
c.1286_1297delinsTGGTCCCGGAGA (p.Leu429=)
c.1385_1396delinsTGGTCCCGGAGA (p.Leu462=)
c.1337_1348delinsTGGTCCCGGAGA (p.Leu446=)
c.1331_1342delinsTGGTCCCGGAGA (p.Leu444=)
c.1232_1243delinsTGGTCCCGGAGA (p.Leu411=)
c.878_889delinsTGGTCCCGGAGA (p.Leu293=)
1g.154465212G>ACA420975910IL6Rc.1239G>A (p.Leu413=)
c.*47G>A (n.*47G>A)
n.552G>A
n.437G>A
c.1003G>A (p.Gly335Ser)
c.*80G>A (n.*80G>A)
c.1287G>A (p.Leu429=)
c.1386G>A (p.Leu462=)
c.1338G>A (p.Leu446=)
c.1332G>A (p.Leu444=)
c.1233G>A (p.Leu411=)
c.879G>A (p.Leu293=)
1g.154465212G>CCA420975912IL6Rc.1239G>C (p.Leu413=)
c.*47G>C (n.*47G>C)
n.552G>C
n.437G>C
c.1003G>C (p.Gly335Arg)
c.*80G>C (n.*80G>C)
c.1287G>C (p.Leu429=)
c.1386G>C (p.Leu462=)
c.1338G>C (p.Leu446=)
c.1332G>C (p.Leu444=)
c.1233G>C (p.Leu411=)
c.879G>C (p.Leu293=)
1g.154465212G=CA2480880288IL6Rc.1239G= (p.Leu413=)
c.*47G= (n.*47G=)
n.552G=
n.437G=
c.1003G= (p.Gly335=)
c.*80G= (n.*80G=)
c.1287G= (p.Leu429=)
c.1386G= (p.Leu462=)
c.1338G= (p.Leu446=)
c.1332G= (p.Leu444=)
c.1233G= (p.Leu411=)
c.879G= (p.Leu293=)
1g.154465212G>TCA420975908IL6Rc.1239G>T (p.Leu413=)
c.*47G>T (n.*47G>T)
n.552G>T
n.437G>T
c.1003G>T (p.Gly335Cys)
c.*80G>T (n.*80G>T)
c.1287G>T (p.Leu429=)
c.1386G>T (p.Leu462=)
c.1338G>T (p.Leu446=)
c.1332G>T (p.Leu444=)
c.1233G>T (p.Leu411=)
c.879G>T (p.Leu293=)
dbSNP gnomAD v2 gnomAD v4
1g.154465214_154465224delCA1129328IL6Rc.1241_1251del (p.Val414AlafsTer23)
c.*49_*59del (n.*49_*59del)
n.554_564del
n.439_449del
c.1005_1015del (p.Pro336LeufsTer?)
c.*82_*92del (n.*82_*92del)
c.1289_1299del (p.Val430AlafsTer23)
c.1388_1398del (p.Val463AlafsTer23)
c.1340_1350del (p.Val447AlafsTer23)
c.1334_1344del (p.Val445AlafsTer23)
c.1235_1245del (p.Val412AlafsTer23)
c.881_891del (p.Val294AlafsTer23)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.154465213G>ACA342628488IL6Rc.1240G>A (p.Val414Ile)
c.*48G>A (n.*48G>A)
n.553G>A
n.438G>A
c.1004G>A (p.Gly335Asp)
c.*81G>A (n.*81G>A)
c.1288G>A (p.Val430Ile)
c.1387G>A (p.Val463Ile)
c.1339G>A (p.Val447Ile)
c.1333G>A (p.Val445Ile)
c.1234G>A (p.Val412Ile)
c.880G>A (p.Val294Ile)
gnomAD v4
1g.154465213G>CCA342628489IL6Rc.1240G>C (p.Val414Leu)
c.*48G>C (n.*48G>C)
n.553G>C
n.438G>C
c.1004G>C (p.Gly335Ala)
c.*81G>C (n.*81G>C)
c.1288G>C (p.Val430Leu)
c.1387G>C (p.Val463Leu)
c.1339G>C (p.Val447Leu)
c.1333G>C (p.Val445Leu)
c.1234G>C (p.Val412Leu)
c.880G>C (p.Val294Leu)
1g.154465213G>TCA342628490IL6Rc.1240G>T (p.Val414Phe)
c.*48G>T (n.*48G>T)
n.553G>T
n.438G>T
c.1004G>T (p.Gly335Val)
c.*81G>T (n.*81G>T)
c.1288G>T (p.Val430Phe)
c.1387G>T (p.Val463Phe)
c.1339G>T (p.Val447Phe)
c.1333G>T (p.Val445Phe)
c.1234G>T (p.Val412Phe)
c.880G>T (p.Val294Phe)
1g.154465214T>ACA342628491IL6Rc.1241T>A (p.Val414Asp)
c.*49T>A (n.*49T>A)
n.554T>A
n.439T>A
c.1005T>A (p.Gly335=)
c.*82T>A (n.*82T>A)
c.1289T>A (p.Val430Asp)
c.1388T>A (p.Val463Asp)
c.1340T>A (p.Val447Asp)
c.1334T>A (p.Val445Asp)
c.1235T>A (p.Val412Asp)
c.881T>A (p.Val294Asp)
1g.154465214T>CCA342628492IL6Rc.1241T>C (p.Val414Ala)
c.*49T>C (n.*49T>C)
n.554T>C
n.439T>C
c.1005T>C (p.Gly335=)
c.*82T>C (n.*82T>C)
c.1289T>C (p.Val430Ala)
c.1388T>C (p.Val463Ala)
c.1340T>C (p.Val447Ala)
c.1334T>C (p.Val445Ala)
c.1235T>C (p.Val412Ala)
c.881T>C (p.Val294Ala)
1g.154465214T>GCA342628493IL6Rc.1241T>G (p.Val414Gly)
c.*49T>G (n.*49T>G)
n.554T>G
n.439T>G
c.1005T>G (p.Gly335=)
c.*82T>G (n.*82T>G)
c.1289T>G (p.Val430Gly)
c.1388T>G (p.Val463Gly)
c.1340T>G (p.Val447Gly)
c.1334T>G (p.Val445Gly)
c.1235T>G (p.Val412Gly)
c.881T>G (p.Val294Gly)
1g.154465215C>ACA1129329IL6Rc.1242C>A (p.Val414=)
c.*50C>A (n.*50C>A)
n.555C>A
n.440C>A
c.1006C>A (p.Pro336Thr)
c.*83C>A (n.*83C>A)
c.1290C>A (p.Val430=)
c.1389C>A (p.Val463=)
c.1341C>A (p.Val447=)
c.1335C>A (p.Val445=)
c.1236C>A (p.Val412=)
c.882C>A (p.Val294=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.154465215C=CA1148464038IL6Rc.1242C= (p.Val414=)
c.*50C= (n.*50C=)
n.555C=
n.440C=
c.1006C= (p.Pro336=)
c.*83C= (n.*83C=)
c.1290C= (p.Val430=)
c.1389C= (p.Val463=)
c.1341C= (p.Val447=)
c.1335C= (p.Val445=)
c.1236C= (p.Val412=)
c.882C= (p.Val294=)
1g.154465215C>GCA420975913IL6Rc.1242C>G (p.Val414=)
c.*50C>G (n.*50C>G)
n.555C>G
n.440C>G
c.1006C>G (p.Pro336Ala)
c.*83C>G (n.*83C>G)
c.1290C>G (p.Val430=)
c.1389C>G (p.Val463=)
c.1341C>G (p.Val447=)
c.1335C>G (p.Val445=)
c.1236C>G (p.Val412=)
c.882C>G (p.Val294=)
1g.154465215C>TCA420975914IL6Rc.1242C>T (p.Val414=)
c.*50C>T (n.*50C>T)
n.555C>T
n.440C>T
c.1006C>T (p.Pro336Ser)
c.*83C>T (n.*83C>T)
c.1290C>T (p.Val430=)
c.1389C>T (p.Val463=)
c.1341C>T (p.Val447=)
c.1335C>T (p.Val445=)
c.1236C>T (p.Val412=)
c.882C>T (p.Val294=)
1g.154465216C>ACA342628494IL6Rc.1243C>A (p.Pro415Thr)
c.*51C>A (n.*51C>A)
n.556C>A
n.441C>A
c.1007C>A (p.Pro336His)
c.*84C>A (n.*84C>A)
c.1291C>A (p.Pro431Thr)
c.1390C>A (p.Pro464Thr)
c.1342C>A (p.Pro448Thr)
c.1336C>A (p.Pro446Thr)
c.1237C>A (p.Pro413Thr)
c.883C>A (p.Pro295Thr)
1g.154465216C>GCA342628496IL6Rc.1243C>G (p.Pro415Ala)
c.*51C>G (n.*51C>G)
n.556C>G
n.441C>G
c.1007C>G (p.Pro336Arg)
c.*84C>G (n.*84C>G)
c.1291C>G (p.Pro431Ala)
c.1390C>G (p.Pro464Ala)
c.1342C>G (p.Pro448Ala)
c.1336C>G (p.Pro446Ala)
c.1237C>G (p.Pro413Ala)
c.883C>G (p.Pro295Ala)
1g.154465216C>TCA342628495IL6Rc.1243C>T (p.Pro415Ser)
c.*51C>T (n.*51C>T)
n.556C>T
n.441C>T
c.1007C>T (p.Pro336Leu)
c.*84C>T (n.*84C>T)
c.1291C>T (p.Pro431Ser)
c.1390C>T (p.Pro464Ser)
c.1342C>T (p.Pro448Ser)
c.1336C>T (p.Pro446Ser)
c.1237C>T (p.Pro413Ser)
c.883C>T (p.Pro295Ser)
gnomAD v4
1g.154465217C>ACA342628497IL6Rc.1244C>A (p.Pro415Gln)
c.*52C>A (n.*52C>A)
n.557C>A
n.442C>A
c.1008C>A (p.Pro336=)
c.*85C>A (n.*85C>A)
c.1292C>A (p.Pro431Gln)
c.1391C>A (p.Pro464Gln)
c.1343C>A (p.Pro448Gln)
c.1337C>A (p.Pro446Gln)
c.1238C>A (p.Pro413Gln)
c.884C>A (p.Pro295Gln)
1g.154465217C=CA1141885846IL6Rc.1244C= (p.Pro415=)
c.*52C= (n.*52C=)
n.557C=
n.442C=
c.1008C= (p.Pro336=)
c.*85C= (n.*85C=)
c.1292C= (p.Pro431=)
c.1391C= (p.Pro464=)
c.1343C= (p.Pro448=)
c.1337C= (p.Pro446=)
c.1238C= (p.Pro413=)
c.884C= (p.Pro295=)
1g.154465217C>GCA342628498IL6Rc.1244C>G (p.Pro415Arg)
c.*52C>G (n.*52C>G)
n.557C>G
n.442C>G
c.1008C>G (p.Pro336=)
c.*85C>G (n.*85C>G)
c.1292C>G (p.Pro431Arg)
c.1391C>G (p.Pro464Arg)
c.1343C>G (p.Pro448Arg)
c.1337C>G (p.Pro446Arg)
c.1238C>G (p.Pro413Arg)
c.884C>G (p.Pro295Arg)
1g.154465217C>TCA1129330IL6Rc.1244C>T (p.Pro415Leu)
c.*52C>T (n.*52C>T)
n.557C>T
n.442C>T
c.1008C>T (p.Pro336=)
c.*85C>T (n.*85C>T)
c.1292C>T (p.Pro431Leu)
c.1391C>T (p.Pro464Leu)
c.1343C>T (p.Pro448Leu)
c.1337C>T (p.Pro446Leu)
c.1238C>T (p.Pro413Leu)
c.884C>T (p.Pro295Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154465218G>ACA1129331IL6Rc.1245G>A (p.Pro415=)
c.*53G>A (n.*53G>A)
n.558G>A
n.443G>A
c.1009G>A (p.Gly337Arg)
c.*86G>A (n.*86G>A)
c.1293G>A (p.Pro431=)
c.1392G>A (p.Pro464=)
c.1344G>A (p.Pro448=)
c.1338G>A (p.Pro446=)
c.1239G>A (p.Pro413=)
c.885G>A (p.Pro295=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154465218G>CCA420975916IL6Rc.1245G>C (p.Pro415=)
c.*53G>C (n.*53G>C)
n.558G>C
n.443G>C
c.1009G>C (p.Gly337Arg)
c.*86G>C (n.*86G>C)
c.1293G>C (p.Pro431=)
c.1392G>C (p.Pro464=)
c.1344G>C (p.Pro448=)
c.1338G>C (p.Pro446=)
c.1239G>C (p.Pro413=)
c.885G>C (p.Pro295=)
1g.154465218G=CA1142095293IL6Rc.1245G= (p.Pro415=)
c.*53G= (n.*53G=)
n.558G=
n.443G=
c.1009G= (p.Gly337=)
c.*86G= (n.*86G=)
c.1293G= (p.Pro431=)
c.1392G= (p.Pro464=)
c.1344G= (p.Pro448=)
c.1338G= (p.Pro446=)
c.1239G= (p.Pro413=)
c.885G= (p.Pro295=)
1g.154465218G>TCA420975917IL6Rc.1245G>T (p.Pro415=)
c.*53G>T (n.*53G>T)
n.558G>T
n.443G>T
c.1009G>T (p.Gly337Ter)
c.*86G>T (n.*86G>T)
c.1293G>T (p.Pro431=)
c.1392G>T (p.Pro464=)
c.1344G>T (p.Pro448=)
c.1338G>T (p.Pro446=)
c.1239G>T (p.Pro413=)
c.885G>T (p.Pro295=)
1g.154465219G>ACA342628499IL6Rc.1246G>A (p.Glu416Lys)
c.*54G>A (n.*54G>A)
n.559G>A
n.444G>A
c.1010G>A (p.Gly337Glu)
c.*87G>A (n.*87G>A)
c.1294G>A (p.Glu432Lys)
c.1393G>A (p.Glu465Lys)
c.1345G>A (p.Glu449Lys)
c.1339G>A (p.Glu447Lys)
c.1240G>A (p.Glu414Lys)
c.886G>A (p.Glu296Lys)
gnomAD v4
1g.154465219G>CCA342628500IL6Rc.1246G>C (p.Glu416Gln)
c.*54G>C (n.*54G>C)
n.559G>C
n.444G>C
c.1010G>C (p.Gly337Ala)
c.*87G>C (n.*87G>C)
c.1294G>C (p.Glu432Gln)
c.1393G>C (p.Glu465Gln)
c.1345G>C (p.Glu449Gln)
c.1339G>C (p.Glu447Gln)
c.1240G>C (p.Glu414Gln)
c.886G>C (p.Glu296Gln)
1g.154465219G>TCA342628501IL6Rc.1246G>T (p.Glu416Ter)
c.*54G>T (n.*54G>T)
n.559G>T
n.444G>T
c.1010G>T (p.Gly337Val)
c.*87G>T (n.*87G>T)
c.1294G>T (p.Glu432Ter)
c.1393G>T (p.Glu465Ter)
c.1345G>T (p.Glu449Ter)
c.1339G>T (p.Glu447Ter)
c.1240G>T (p.Glu414Ter)
c.886G>T (p.Glu296Ter)
1g.154465220A>CCA342628502IL6Rc.1247A>C (p.Glu416Ala)
c.*55A>C (n.*55A>C)
n.560A>C
n.445A>C
c.1011A>C (p.Gly337=)
c.*88A>C (n.*88A>C)
c.1295A>C (p.Glu432Ala)
c.1394A>C (p.Glu465Ala)
c.1346A>C (p.Glu449Ala)
c.1340A>C (p.Glu447Ala)
c.1241A>C (p.Glu414Ala)
c.887A>C (p.Glu296Ala)
1g.154465220A>GCA342628503IL6Rc.1247A>G (p.Glu416Gly)
c.*55A>G (n.*55A>G)
n.560A>G
n.445A>G
c.1011A>G (p.Gly337=)
c.*88A>G (n.*88A>G)
c.1295A>G (p.Glu432Gly)
c.1394A>G (p.Glu465Gly)
c.1346A>G (p.Glu449Gly)
c.1340A>G (p.Glu447Gly)
c.1241A>G (p.Glu414Gly)
c.887A>G (p.Glu296Gly)
gnomAD v4
1g.154465220A>TCA342628504IL6Rc.1247A>T (p.Glu416Val)
c.*55A>T (n.*55A>T)
n.560A>T
n.445A>T
c.1011A>T (p.Gly337=)
c.*88A>T (n.*88A>T)
c.1295A>T (p.Glu432Val)
c.1394A>T (p.Glu465Val)
c.1346A>T (p.Glu449Val)
c.1340A>T (p.Glu447Val)
c.1241A>T (p.Glu414Val)
c.887A>T (p.Glu296Val)
1g.154465221G>ACA420975920IL6Rc.1248G>A (p.Glu416=)
c.*56G>A (n.*56G>A)
n.561G>A
n.446G>A
c.1012G>A (p.Glu338Lys)
c.*89G>A (n.*89G>A)
c.1296G>A (p.Glu432=)
c.1395G>A (p.Glu465=)
c.1347G>A (p.Glu449=)
c.1341G>A (p.Glu447=)
c.1242G>A (p.Glu414=)
c.888G>A (p.Glu296=)
gnomAD v4
1g.154465221G>CCA342628506IL6Rc.1248G>C (p.Glu416Asp)
c.*56G>C (n.*56G>C)
n.561G>C
n.446G>C
c.1012G>C (p.Glu338Gln)
c.*89G>C (n.*89G>C)
c.1296G>C (p.Glu432Asp)
c.1395G>C (p.Glu465Asp)
c.1347G>C (p.Glu449Asp)
c.1341G>C (p.Glu447Asp)
c.1242G>C (p.Glu414Asp)
c.888G>C (p.Glu296Asp)
1g.154465221G>TCA342628505IL6Rc.1248G>T (p.Glu416Asp)
c.*56G>T (n.*56G>T)
n.561G>T
n.446G>T
c.1012G>T (p.Glu338Ter)
c.*89G>T (n.*89G>T)
c.1296G>T (p.Glu432Asp)
c.1395G>T (p.Glu465Asp)
c.1347G>T (p.Glu449Asp)
c.1341G>T (p.Glu447Asp)
c.1242G>T (p.Glu414Asp)
c.888G>T (p.Glu296Asp)
1g.154465222A>CCA420975922IL6Rc.1249A>C (p.Arg417=)
c.*57A>C (n.*57A>C)
n.562A>C
n.447A>C
c.1013A>C (p.Glu338Ala)
c.*90A>C (n.*90A>C)
c.1297A>C (p.Arg433=)
c.1396A>C (p.Arg466=)
c.1348A>C (p.Arg450=)
c.1342A>C (p.Arg448=)
c.1243A>C (p.Arg415=)
c.889A>C (p.Arg297=)
1g.154465222A>GCA342628507IL6Rc.1249A>G (p.Arg417Gly)
c.*57A>G (n.*57A>G)
n.562A>G
n.447A>G
c.1013A>G (p.Glu338Gly)
c.*90A>G (n.*90A>G)
c.1297A>G (p.Arg433Gly)
c.1396A>G (p.Arg466Gly)
c.1348A>G (p.Arg450Gly)
c.1342A>G (p.Arg448Gly)
c.1243A>G (p.Arg415Gly)
c.889A>G (p.Arg297Gly)
1g.154465222A>TCA342628508IL6Rc.1249A>T (p.Arg417Trp)
c.*57A>T (n.*57A>T)
n.562A>T
n.447A>T
c.1013A>T (p.Glu338Val)
c.*90A>T (n.*90A>T)
c.1297A>T (p.Arg433Trp)
c.1396A>T (p.Arg466Trp)
c.1348A>T (p.Arg450Trp)
c.1342A>T (p.Arg448Trp)
c.1243A>T (p.Arg415Trp)
c.889A>T (p.Arg297Trp)
1g.154465223G>ACA342628509IL6Rc.1250G>A (p.Arg417Lys)
c.*58G>A (n.*58G>A)
n.563G>A
n.448G>A
c.1014G>A (p.Glu338=)
c.*91G>A (n.*91G>A)
c.1298G>A (p.Arg433Lys)
c.1397G>A (p.Arg466Lys)
c.1349G>A (p.Arg450Lys)
c.1343G>A (p.Arg448Lys)
c.1244G>A (p.Arg415Lys)
c.890G>A (p.Arg297Lys)
1g.154465223G>CCA342628510IL6Rc.1250G>C (p.Arg417Thr)
c.*58G>C (n.*58G>C)
n.563G>C
n.448G>C
c.1014G>C (p.Glu338Asp)
c.*91G>C (n.*91G>C)
c.1298G>C (p.Arg433Thr)
c.1397G>C (p.Arg466Thr)
c.1349G>C (p.Arg450Thr)
c.1343G>C (p.Arg448Thr)
c.1244G>C (p.Arg415Thr)
c.890G>C (p.Arg297Thr)
1g.154465223G>TCA342628511IL6Rc.1250G>T (p.Arg417Met)
c.*58G>T (n.*58G>T)
n.563G>T
n.448G>T
c.1014G>T (p.Glu338Asp)
c.*91G>T (n.*91G>T)
c.1298G>T (p.Arg433Met)
c.1397G>T (p.Arg466Met)
c.1349G>T (p.Arg450Met)
c.1343G>T (p.Arg448Met)
c.1244G>T (p.Arg415Met)
c.890G>T (p.Arg297Met)
1g.154465224G>ACA420975925IL6Rc.1251G>A (p.Arg417=)
c.*59G>A (n.*59G>A)
n.564G>A
n.449G>A
c.1015G>A (p.Ala339Thr)
c.*92G>A (n.*92G>A)
c.1299G>A (p.Arg433=)
c.1398G>A (p.Arg466=)
c.1350G>A (p.Arg450=)
c.1344G>A (p.Arg448=)
c.1245G>A (p.Arg415=)
c.891G>A (p.Arg297=)
gnomAD v4
1g.154465224G>CCA342628512IL6Rc.1251G>C (p.Arg417Ser)
c.*59G>C (n.*59G>C)
n.564G>C
n.449G>C
c.1015G>C (p.Ala339Pro)
c.*92G>C (n.*92G>C)
c.1299G>C (p.Arg433Ser)
c.1398G>C (p.Arg466Ser)
c.1350G>C (p.Arg450Ser)
c.1344G>C (p.Arg448Ser)
c.1245G>C (p.Arg415Ser)
c.891G>C (p.Arg297Ser)
1g.154465224G>TCA342628513IL6Rc.1251G>T (p.Arg417Ser)
c.*59G>T (n.*59G>T)
n.564G>T
n.449G>T
c.1015G>T (p.Ala339Ser)
c.*92G>T (n.*92G>T)
c.1299G>T (p.Arg433Ser)
c.1398G>T (p.Arg466Ser)
c.1350G>T (p.Arg450Ser)
c.1344G>T (p.Arg448Ser)
c.1245G>T (p.Arg415Ser)
c.891G>T (p.Arg297Ser)
1g.154465225C>ACA342628514IL6Rc.1252C>A (p.Pro418Thr)
c.*60C>A (n.*60C>A)
n.565C>A
n.450C>A
c.1016C>A (p.Ala339Asp)
c.*93C>A (n.*93C>A)
c.1300C>A (p.Pro434Thr)
c.1399C>A (p.Pro467Thr)
c.1351C>A (p.Pro451Thr)
c.1345C>A (p.Pro449Thr)
c.1246C>A (p.Pro416Thr)
c.892C>A (p.Pro298Thr)
1g.154465225C>GCA342628515IL6Rc.1252C>G (p.Pro418Ala)
c.*60C>G (n.*60C>G)
n.565C>G
n.450C>G
c.1016C>G (p.Ala339Gly)
c.*93C>G (n.*93C>G)
c.1300C>G (p.Pro434Ala)
c.1399C>G (p.Pro467Ala)
c.1351C>G (p.Pro451Ala)
c.1345C>G (p.Pro449Ala)
c.1246C>G (p.Pro416Ala)
c.892C>G (p.Pro298Ala)
1g.154465225C>TCA342628516IL6Rc.1252C>T (p.Pro418Ser)
c.*60C>T (n.*60C>T)
n.565C>T
n.450C>T
c.1016C>T (p.Ala339Val)
c.*93C>T (n.*93C>T)
c.1300C>T (p.Pro434Ser)
c.1399C>T (p.Pro467Ser)
c.1351C>T (p.Pro451Ser)
c.1345C>T (p.Pro449Ser)
c.1246C>T (p.Pro416Ser)
c.892C>T (p.Pro298Ser)
1g.154465226C>ACA342628517IL6Rc.1253C>A (p.Pro418His)
c.*61C>A (n.*61C>A)
n.566C>A
n.451C>A
c.1017C>A (p.Ala339=)
c.*94C>A (n.*94C>A)
c.1301C>A (p.Pro434His)
c.1400C>A (p.Pro467His)
c.1352C>A (p.Pro451His)
c.1346C>A (p.Pro449His)
c.1247C>A (p.Pro416His)
c.893C>A (p.Pro298His)
1g.154465226C>GCA342628518IL6Rc.1253C>G (p.Pro418Arg)
c.*61C>G (n.*61C>G)
n.566C>G
n.451C>G
c.1017C>G (p.Ala339=)
c.*94C>G (n.*94C>G)
c.1301C>G (p.Pro434Arg)
c.1400C>G (p.Pro467Arg)
c.1352C>G (p.Pro451Arg)
c.1346C>G (p.Pro449Arg)
c.1247C>G (p.Pro416Arg)
c.893C>G (p.Pro298Arg)
1g.154465226C>TCA342628519IL6Rc.1253C>T (p.Pro418Leu)
c.*61C>T (n.*61C>T)
n.566C>T
n.451C>T
c.1017C>T (p.Ala339=)
c.*94C>T (n.*94C>T)
c.1301C>T (p.Pro434Leu)
c.1400C>T (p.Pro467Leu)
c.1352C>T (p.Pro451Leu)
c.1346C>T (p.Pro449Leu)
c.1247C>T (p.Pro416Leu)
c.893C>T (p.Pro298Leu)
gnomAD v4
1g.154465227T>ACA420975927IL6Rc.1254T>A (p.Pro418=)
c.*62T>A (n.*62T>A)
n.567T>A
n.452T>A
c.1018T>A (p.Ser340Thr)
c.*95T>A (n.*95T>A)
c.1302T>A (p.Pro434=)
c.1401T>A (p.Pro467=)
c.1353T>A (p.Pro451=)
c.1347T>A (p.Pro449=)
c.1248T>A (p.Pro416=)
c.894T>A (p.Pro298=)
1g.154465227T>CCA420975928IL6Rc.1254T>C (p.Pro418=)
c.*62T>C (n.*62T>C)
n.567T>C
n.452T>C
c.1018T>C (p.Ser340Pro)
c.*95T>C (n.*95T>C)
c.1302T>C (p.Pro434=)
c.1401T>C (p.Pro467=)
c.1353T>C (p.Pro451=)
c.1347T>C (p.Pro449=)
c.1248T>C (p.Pro416=)
c.894T>C (p.Pro298=)
1g.154465227T>GCA420975929IL6Rc.1254T>G (p.Pro418=)
c.*62T>G (n.*62T>G)
n.567T>G
n.452T>G
c.1018T>G (p.Ser340Ala)
c.*95T>G (n.*95T>G)
c.1302T>G (p.Pro434=)
c.1401T>G (p.Pro467=)
c.1353T>G (p.Pro451=)
c.1347T>G (p.Pro449=)
c.1248T>G (p.Pro416=)
c.894T>G (p.Pro298=)
1g.154465228C>ACA420975931IL6Rc.1255C>A (p.Arg419=)
c.*63C>A (n.*63C>A)
n.568C>A
n.453C>A
c.1019C>A (p.Ser340Ter)
c.*96C>A (n.*96C>A)
c.1303C>A (p.Arg435=)
c.1402C>A (p.Arg468=)
c.1354C>A (p.Arg452=)
c.1348C>A (p.Arg450=)
c.1249C>A (p.Arg417=)
c.895C>A (p.Arg299=)
1g.154465228C=CA1148870500IL6Rc.1255C= (p.Arg419=)
c.*63C= (n.*63C=)
n.568C=
n.453C=
c.1019C= (p.Ser340=)
c.*96C= (n.*96C=)
c.1303C= (p.Arg435=)
c.1402C= (p.Arg468=)
c.1354C= (p.Arg452=)
c.1348C= (p.Arg450=)
c.1249C= (p.Arg417=)
c.895C= (p.Arg299=)
1g.154465228C>GCA342628520IL6Rc.1255C>G (p.Arg419Gly)
c.*63C>G (n.*63C>G)
n.568C>G
n.453C>G
c.1019C>G (p.Ser340Trp)
c.*96C>G (n.*96C>G)
c.1303C>G (p.Arg435Gly)
c.1402C>G (p.Arg468Gly)
c.1354C>G (p.Arg452Gly)
c.1348C>G (p.Arg450Gly)
c.1249C>G (p.Arg417Gly)
c.895C>G (p.Arg299Gly)
1g.154465228C>TCA1129332IL6Rc.1255C>T (p.Arg419Ter)
c.*63C>T (n.*63C>T)
n.568C>T
n.453C>T
c.1019C>T (p.Ser340Leu)
c.*96C>T (n.*96C>T)
c.1303C>T (p.Arg435Ter)
c.1402C>T (p.Arg468Ter)
c.1354C>T (p.Arg452Ter)
c.1348C>T (p.Arg450Ter)
c.1249C>T (p.Arg417Ter)
c.895C>T (p.Arg299Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154465229G>ACA342628521IL6Rc.1256G>A (p.Arg419Gln)
c.*64G>A (n.*64G>A)
n.569G>A
n.454G>A
c.1020G>A (p.Ser340=)
c.*97G>A (n.*97G>A)
c.1304G>A (p.Arg435Gln)
c.1403G>A (p.Arg468Gln)
c.1355G>A (p.Arg452Gln)
c.1349G>A (p.Arg450Gln)
c.1250G>A (p.Arg417Gln)
c.896G>A (p.Arg299Gln)
dbSNP
1g.154465229G>CCA342628522IL6Rc.1256G>C (p.Arg419Pro)
c.*64G>C (n.*64G>C)
n.569G>C
n.454G>C
c.1020G>C (p.Ser340=)
c.*97G>C (n.*97G>C)
c.1304G>C (p.Arg435Pro)
c.1403G>C (p.Arg468Pro)
c.1355G>C (p.Arg452Pro)
c.1349G>C (p.Arg450Pro)
c.1250G>C (p.Arg417Pro)
c.896G>C (p.Arg299Pro)
gnomAD v4
1g.154465229G=CA2480880289IL6Rc.1256G= (p.Arg419=)
c.*64G= (n.*64G=)
n.569G=
n.454G=
c.1020G= (p.Ser340=)
c.*97G= (n.*97G=)
c.1304G= (p.Arg435=)
c.1403G= (p.Arg468=)
c.1355G= (p.Arg452=)
c.1349G= (p.Arg450=)
c.1250G= (p.Arg417=)
c.896G= (p.Arg299=)
1g.154465229G>TCA342628523IL6Rc.1256G>T (p.Arg419Leu)
c.*64G>T (n.*64G>T)
n.569G>T
n.454G>T
c.1020G>T (p.Ser340=)
c.*97G>T (n.*97G>T)
c.1304G>T (p.Arg435Leu)
c.1403G>T (p.Arg468Leu)
c.1355G>T (p.Arg452Leu)
c.1349G>T (p.Arg450Leu)
c.1250G>T (p.Arg417Leu)
c.896G>T (p.Arg299Leu)
1g.154465230A=CA2480880290IL6Rc.1257A= (p.Arg419=)
c.*65A= (n.*65A=)
n.570A=
n.455A=
c.1021A= (p.Thr341=)
c.*98A= (n.*98A=)
c.1305A= (p.Arg435=)
c.1404A= (p.Arg468=)
c.1356A= (p.Arg452=)
c.1350A= (p.Arg450=)
c.1251A= (p.Arg417=)
c.897A= (p.Arg299=)
1g.154465230A>CCA420975936IL6Rc.1257A>C (p.Arg419=)
c.*65A>C (n.*65A>C)
n.570A>C
n.455A>C
c.1021A>C (p.Thr341Pro)
c.*98A>C (n.*98A>C)
c.1305A>C (p.Arg435=)
c.1404A>C (p.Arg468=)
c.1356A>C (p.Arg452=)
c.1350A>C (p.Arg450=)
c.1251A>C (p.Arg417=)
c.897A>C (p.Arg299=)
dbSNP
1g.154465230A>GCA420975937IL6Rc.1257A>G (p.Arg419=)
c.*65A>G (n.*65A>G)
n.570A>G
n.455A>G
c.1021A>G (p.Thr341Ala)
c.*98A>G (n.*98A>G)
c.1305A>G (p.Arg435=)
c.1404A>G (p.Arg468=)
c.1356A>G (p.Arg452=)
c.1350A>G (p.Arg450=)
c.1251A>G (p.Arg417=)
c.897A>G (p.Arg299=)
dbSNP gnomAD v3 gnomAD v4
1g.154465230A>TCA420975938IL6Rc.1257A>T (p.Arg419=)
c.*65A>T (n.*65A>T)
n.570A>T
n.455A>T
c.1021A>T (p.Thr341Ser)
c.*98A>T (n.*98A>T)
c.1305A>T (p.Arg435=)
c.1404A>T (p.Arg468=)
c.1356A>T (p.Arg452=)
c.1350A>T (p.Arg450=)
c.1251A>T (p.Arg417=)
c.897A>T (p.Arg299=)
1g.154465231C>ACA342628524IL6Rc.1258C>A (p.Pro420Thr)
c.*66C>A (n.*66C>A)
n.571C>A
n.456C>A
c.1022C>A (p.Thr341Asn)
c.*99C>A (n.*99C>A)
c.1306C>A (p.Pro436Thr)
c.1405C>A (p.Pro469Thr)
c.1357C>A (p.Pro453Thr)
c.1351C>A (p.Pro451Thr)
c.1252C>A (p.Pro418Thr)
c.898C>A (p.Pro300Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.154465231C=CA1144117555IL6Rc.1258C= (p.Pro420=)
c.*66C= (n.*66C=)
n.571C=
n.456C=
c.1022C= (p.Thr341=)
c.*99C= (n.*99C=)
c.1306C= (p.Pro436=)
c.1405C= (p.Pro469=)
c.1357C= (p.Pro453=)
c.1351C= (p.Pro451=)
c.1252C= (p.Pro418=)
c.898C= (p.Pro300=)
1g.154465231C>GCA342628525IL6Rc.1258C>G (p.Pro420Ala)
c.*66C>G (n.*66C>G)
n.571C>G
n.456C>G
c.1022C>G (p.Thr341Ser)
c.*99C>G (n.*99C>G)
c.1306C>G (p.Pro436Ala)
c.1405C>G (p.Pro469Ala)
c.1357C>G (p.Pro453Ala)
c.1351C>G (p.Pro451Ala)
c.1252C>G (p.Pro418Ala)
c.898C>G (p.Pro300Ala)
1g.154465231C>TCA1129333IL6Rc.1258C>T (p.Pro420Ser)
c.*66C>T (n.*66C>T)
n.571C>T
n.456C>T
c.1022C>T (p.Thr341Ile)
c.*99C>T (n.*99C>T)
c.1306C>T (p.Pro436Ser)
c.1405C>T (p.Pro469Ser)
c.1357C>T (p.Pro453Ser)
c.1351C>T (p.Pro451Ser)
c.1252C>T (p.Pro418Ser)
c.898C>T (p.Pro300Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154465233delCA2580061093IL6Rc.1260del (p.Thr421ProfsTer?)
c.*68del (n.*68del)
n.573del
n.458del
c.1024del (p.His342ThrfsTer?)
c.*101del (n.*101del)
c.1308del (p.Thr437ProfsTer?)
c.1407del (p.Thr470ProfsTer?)
c.1359del (p.Thr454ProfsTer?)
c.1353del (p.Thr452ProfsTer?)
c.1254del (p.Thr419ProfsTer?)
c.900del (p.Thr301ProfsTer?)
ClinVar
1g.154465232C>ACA342628526IL6Rc.1259C>A (p.Pro420His)
c.*67C>A (n.*67C>A)
n.572C>A
n.457C>A
c.1023C>A (p.Thr341=)
c.*100C>A (n.*100C>A)
c.1307C>A (p.Pro436His)
c.1406C>A (p.Pro469His)
c.1358C>A (p.Pro453His)
c.1352C>A (p.Pro451His)
c.1253C>A (p.Pro418His)
c.899C>A (p.Pro300His)
1g.154465232C=CA2480880291IL6Rc.1259C= (p.Pro420=)
c.*67C= (n.*67C=)
n.572C=
n.457C=
c.1023C= (p.Thr341=)
c.*100C= (n.*100C=)
c.1307C= (p.Pro436=)
c.1406C= (p.Pro469=)
c.1358C= (p.Pro453=)
c.1352C= (p.Pro451=)
c.1253C= (p.Pro418=)
c.899C= (p.Pro300=)
1g.154465232C>GCA342628527IL6Rc.1259C>G (p.Pro420Arg)
c.*67C>G (n.*67C>G)
n.572C>G
n.457C>G
c.1023C>G (p.Thr341=)
c.*100C>G (n.*100C>G)
c.1307C>G (p.Pro436Arg)
c.1406C>G (p.Pro469Arg)
c.1358C>G (p.Pro453Arg)
c.1352C>G (p.Pro451Arg)
c.1253C>G (p.Pro418Arg)
c.899C>G (p.Pro300Arg)
1g.154465232C>TCA342628528IL6Rc.1259C>T (p.Pro420Leu)
c.*67C>T (n.*67C>T)
n.572C>T
n.457C>T
c.1023C>T (p.Thr341=)
c.*100C>T (n.*100C>T)
c.1307C>T (p.Pro436Leu)
c.1406C>T (p.Pro469Leu)
c.1358C>T (p.Pro453Leu)
c.1352C>T (p.Pro451Leu)
c.1253C>T (p.Pro418Leu)
c.899C>T (p.Pro300Leu)
dbSNP gnomAD v2 gnomAD v4
1g.154465233C>ACA420975944IL6Rc.1260C>A (p.Pro420=)
c.*68C>A (n.*68C>A)
n.573C>A
n.458C>A
c.1024C>A (p.His342Asn)
c.*101C>A (n.*101C>A)
c.1308C>A (p.Pro436=)
c.1407C>A (p.Pro469=)
c.1359C>A (p.Pro453=)
c.1353C>A (p.Pro451=)
c.1254C>A (p.Pro418=)
c.900C>A (p.Pro300=)
1g.154465233C=CA2480880292IL6Rc.1260C= (p.Pro420=)
c.*68C= (n.*68C=)
n.573C=
n.458C=
c.1024C= (p.His342=)
c.*101C= (n.*101C=)
c.1308C= (p.Pro436=)
c.1407C= (p.Pro469=)
c.1359C= (p.Pro453=)
c.1353C= (p.Pro451=)
c.1254C= (p.Pro418=)
c.900C= (p.Pro300=)
1g.154465233C>GCA420975943IL6Rc.1260C>G (p.Pro420=)
c.*68C>G (n.*68C>G)
n.573C>G
n.458C>G
c.1024C>G (p.His342Asp)
c.*101C>G (n.*101C>G)
c.1308C>G (p.Pro436=)
c.1407C>G (p.Pro469=)
c.1359C>G (p.Pro453=)
c.1353C>G (p.Pro451=)
c.1254C>G (p.Pro418=)
c.900C>G (p.Pro300=)
1g.154465233C>TCA420975942IL6Rc.1260C>T (p.Pro420=)
c.*68C>T (n.*68C>T)
n.573C>T
n.458C>T
c.1024C>T (p.His342Tyr)
c.*101C>T (n.*101C>T)
c.1308C>T (p.Pro436=)
c.1407C>T (p.Pro469=)
c.1359C>T (p.Pro453=)
c.1353C>T (p.Pro451=)
c.1254C>T (p.Pro418=)
c.900C>T (p.Pro300=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.154465234A=CA2480880293IL6Rc.1261A= (p.Thr421=)
c.*69A= (n.*69A=)
n.574A=
n.459A=
c.1025A= (p.His342=)
c.*102A= (n.*102A=)
c.1309A= (p.Thr437=)
c.1408A= (p.Thr470=)
c.1360A= (p.Thr454=)
c.1354A= (p.Thr452=)
c.1255A= (p.Thr419=)
c.901A= (p.Thr301=)
1g.154465234A>CCA1129334IL6Rc.1261A>C (p.Thr421Pro)
c.*69A>C (n.*69A>C)
n.574A>C
n.459A>C
c.1025A>C (p.His342Pro)
c.*102A>C (n.*102A>C)
c.1309A>C (p.Thr437Pro)
c.1408A>C (p.Thr470Pro)
c.1360A>C (p.Thr454Pro)
c.1354A>C (p.Thr452Pro)
c.1255A>C (p.Thr419Pro)
c.901A>C (p.Thr301Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.154465234A>GCA342628529IL6Rc.1261A>G (p.Thr421Ala)
c.*69A>G (n.*69A>G)
n.574A>G
n.459A>G
c.1025A>G (p.His342Arg)
c.*102A>G (n.*102A>G)
c.1309A>G (p.Thr437Ala)
c.1408A>G (p.Thr470Ala)
c.1360A>G (p.Thr454Ala)
c.1354A>G (p.Thr452Ala)
c.1255A>G (p.Thr419Ala)
c.901A>G (p.Thr301Ala)
1g.154465234A>TCA342628530IL6Rc.1261A>T (p.Thr421Ser)
c.*69A>T (n.*69A>T)
n.574A>T
n.459A>T
c.1025A>T (p.His342Leu)
c.*102A>T (n.*102A>T)
c.1309A>T (p.Thr437Ser)
c.1408A>T (p.Thr470Ser)
c.1360A>T (p.Thr454Ser)
c.1354A>T (p.Thr452Ser)
c.1255A>T (p.Thr419Ser)
c.901A>T (p.Thr301Ser)
dbSNP gnomAD v2 gnomAD v4
1g.154465235C>ACA342628532IL6Rc.1262C>A (p.Thr421Asn)
c.*70C>A (n.*70C>A)
n.575C>A
n.460C>A
c.1026C>A (p.His342Gln)
c.*103C>A (n.*103C>A)
c.1310C>A (p.Thr437Asn)
c.1409C>A (p.Thr470Asn)
c.1361C>A (p.Thr454Asn)
c.1355C>A (p.Thr452Asn)
c.1256C>A (p.Thr419Asn)
c.902C>A (p.Thr301Asn)
gnomAD v4
1g.154465235C=CA1149110354IL6Rc.1262C= (p.Thr421=)
c.*70C= (n.*70C=)
n.575C=
n.460C=
c.1026C= (p.His342=)
c.*103C= (n.*103C=)
c.1310C= (p.Thr437=)
c.1409C= (p.Thr470=)
c.1361C= (p.Thr454=)
c.1355C= (p.Thr452=)
c.1256C= (p.Thr419=)
c.902C= (p.Thr301=)
1g.154465235C>GCA342628531IL6Rc.1262C>G (p.Thr421Ser)
c.*70C>G (n.*70C>G)
n.575C>G
n.460C>G
c.1026C>G (p.His342Gln)
c.*103C>G (n.*103C>G)
c.1310C>G (p.Thr437Ser)
c.1409C>G (p.Thr470Ser)
c.1361C>G (p.Thr454Ser)
c.1355C>G (p.Thr452Ser)
c.1256C>G (p.Thr419Ser)
c.902C>G (p.Thr301Ser)
1g.154465235C>TCA1129335IL6Rc.1262C>T (p.Thr421Ile)
c.*70C>T (n.*70C>T)
n.575C>T
n.460C>T
c.1026C>T (p.His342=)
c.*103C>T (n.*103C>T)
c.1310C>T (p.Thr437Ile)
c.1409C>T (p.Thr470Ile)
c.1361C>T (p.Thr454Ile)
c.1355C>T (p.Thr452Ile)
c.1256C>T (p.Thr419Ile)
c.902C>T (p.Thr301Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.154465238dupCA2648156786IL6Rc.1265dup (p.Val423SerfsTer18)
c.*73dup (n.*73dup)
n.578dup
n.463dup
c.1029dup (p.Ser344GlnfsTer?)
c.*106dup (n.*106dup)
c.1313dup (p.Val439SerfsTer18)
c.1412dup (p.Val472SerfsTer18)
c.1364dup (p.Val456SerfsTer18)
c.1358dup (p.Val454SerfsTer18)
c.1259dup (p.Val421SerfsTer18)
c.905dup (p.Val303SerfsTer18)
gnomAD v4
1g.154465236C>ACA420975945IL6Rc.1263C>A (p.Thr421=)
c.*71C>A (n.*71C>A)
n.576C>A
n.461C>A
c.1027C>A (p.Pro343Thr)
c.*104C>A (n.*104C>A)
c.1311C>A (p.Thr437=)
c.1410C>A (p.Thr470=)
c.1362C>A (p.Thr454=)
c.1356C>A (p.Thr452=)
c.1257C>A (p.Thr419=)
c.903C>A (p.Thr301=)
1g.154465236C=CA2480880294IL6Rc.1263C= (p.Thr421=)
c.*71C= (n.*71C=)
n.576C=
n.461C=
c.1027C= (p.Pro343=)
c.*104C= (n.*104C=)
c.1311C= (p.Thr437=)
c.1410C= (p.Thr470=)
c.1362C= (p.Thr454=)
c.1356C= (p.Thr452=)
c.1257C= (p.Thr419=)
c.903C= (p.Thr301=)
1g.154465236C>GCA420975946IL6Rc.1263C>G (p.Thr421=)
c.*71C>G (n.*71C>G)
n.576C>G
n.461C>G
c.1027C>G (p.Pro343Ala)
c.*104C>G (n.*104C>G)
c.1311C>G (p.Thr437=)
c.1410C>G (p.Thr470=)
c.1362C>G (p.Thr454=)
c.1356C>G (p.Thr452=)
c.1257C>G (p.Thr419=)
c.903C>G (p.Thr301=)
1g.154465236C>TCA420975947IL6Rc.1263C>T (p.Thr421=)
c.*71C>T (n.*71C>T)
n.576C>T
n.461C>T
c.1027C>T (p.Pro343Ser)
c.*104C>T (n.*104C>T)
c.1311C>T (p.Thr437=)
c.1410C>T (p.Thr470=)
c.1362C>T (p.Thr454=)
c.1356C>T (p.Thr452=)
c.1257C>T (p.Thr419=)
c.903C>T (p.Thr301=)
dbSNP
1g.154465237C>ACA342628533IL6Rc.1264C>A (p.Pro422Thr)
c.*72C>A (n.*72C>A)
n.577C>A
n.462C>A
c.1028C>A (p.Pro343His)
c.*105C>A (n.*105C>A)
c.1312C>A (p.Pro438Thr)
c.1411C>A (p.Pro471Thr)
c.1363C>A (p.Pro455Thr)
c.1357C>A (p.Pro453Thr)
c.1258C>A (p.Pro420Thr)
c.904C>A (p.Pro302Thr)
1g.154465237C>GCA342628535IL6Rc.1264C>G (p.Pro422Ala)
c.*72C>G (n.*72C>G)
n.577C>G
n.462C>G
c.1028C>G (p.Pro343Arg)
c.*105C>G (n.*105C>G)
c.1312C>G (p.Pro438Ala)
c.1411C>G (p.Pro471Ala)
c.1363C>G (p.Pro455Ala)
c.1357C>G (p.Pro453Ala)
c.1258C>G (p.Pro420Ala)
c.904C>G (p.Pro302Ala)
1g.154465237C>TCA342628534IL6Rc.1264C>T (p.Pro422Ser)
c.*72C>T (n.*72C>T)
n.577C>T
n.462C>T
c.1028C>T (p.Pro343Leu)
c.*105C>T (n.*105C>T)
c.1312C>T (p.Pro438Ser)
c.1411C>T (p.Pro471Ser)
c.1363C>T (p.Pro455Ser)
c.1357C>T (p.Pro453Ser)
c.1258C>T (p.Pro420Ser)
c.904C>T (p.Pro302Ser)
1g.154465238C>ACA342628536IL6Rc.1265C>A (p.Pro422Gln)
c.*73C>A (n.*73C>A)
n.578C>A
n.463C>A
c.1029C>A (p.Pro343=)
c.*106C>A (n.*106C>A)
c.1313C>A (p.Pro438Gln)
c.1412C>A (p.Pro471Gln)
c.1364C>A (p.Pro455Gln)
c.1358C>A (p.Pro453Gln)
c.1259C>A (p.Pro420Gln)
c.905C>A (p.Pro302Gln)
1g.154465238C=CA2480880295IL6Rc.1265C= (p.Pro422=)
c.*73C= (n.*73C=)
n.578C=
n.463C=
c.1029C= (p.Pro343=)
c.*106C= (n.*106C=)
c.1313C= (p.Pro438=)
c.1412C= (p.Pro471=)
c.1364C= (p.Pro455=)
c.1358C= (p.Pro453=)
c.1259C= (p.Pro420=)
c.905C= (p.Pro302=)
1g.154465238C>GCA342628537IL6Rc.1265C>G (p.Pro422Arg)
c.*73C>G (n.*73C>G)
n.578C>G
n.463C>G
c.1029C>G (p.Pro343=)
c.*106C>G (n.*106C>G)
c.1313C>G (p.Pro438Arg)
c.1412C>G (p.Pro471Arg)
c.1364C>G (p.Pro455Arg)
c.1358C>G (p.Pro453Arg)
c.1259C>G (p.Pro420Arg)
c.905C>G (p.Pro302Arg)
gnomAD v4
1g.154465238C>TCA342628538IL6Rc.1265C>T (p.Pro422Leu)
c.*73C>T (n.*73C>T)
n.578C>T
n.463C>T
c.1029C>T (p.Pro343=)
c.*106C>T (n.*106C>T)
c.1313C>T (p.Pro438Leu)
c.1412C>T (p.Pro471Leu)
c.1364C>T (p.Pro455Leu)
c.1358C>T (p.Pro453Leu)
c.1259C>T (p.Pro420Leu)
c.905C>T (p.Pro302Leu)
dbSNP gnomAD v4
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.154465239A=CA2480880296IL6Rc.1266A= (p.Pro422=)
c.*74A= (n.*74A=)
n.579A=
n.464A=
c.1030A= (p.Ser344=)
c.*107A= (n.*107A=)
c.1314A= (p.Pro438=)
c.1413A= (p.Pro471=)
c.1365A= (p.Pro455=)
c.1359A= (p.Pro453=)
c.1260A= (p.Pro420=)
c.906A= (p.Pro302=)
1g.154465239A>CCA420975949IL6Rc.1266A>C (p.Pro422=)
c.*74A>C (n.*74A>C)
n.579A>C
n.464A>C
c.1030A>C (p.Ser344Arg)
c.*107A>C (n.*107A>C)
c.1314A>C (p.Pro438=)
c.1413A>C (p.Pro471=)
c.1365A>C (p.Pro455=)
c.1359A>C (p.Pro453=)
c.1260A>C (p.Pro420=)
c.906A>C (p.Pro302=)
1g.154465239A>GCA420975950IL6Rc.1266A>G (p.Pro422=)
c.*74A>G (n.*74A>G)
n.579A>G
n.464A>G
c.1030A>G (p.Ser344Gly)
c.*107A>G (n.*107A>G)
c.1314A>G (p.Pro438=)
c.1413A>G (p.Pro471=)
c.1365A>G (p.Pro455=)
c.1359A>G (p.Pro453=)
c.1260A>G (p.Pro420=)
c.906A>G (p.Pro302=)
dbSNP gnomAD v2 gnomAD v4
1g.154465239A>TCA420975951IL6Rc.1266A>T (p.Pro422=)
c.*74A>T (n.*74A>T)
n.579A>T
n.464A>T
c.1030A>T (p.Ser344Cys)
c.*107A>T (n.*107A>T)
c.1314A>T (p.Pro438=)
c.1413A>T (p.Pro471=)
c.1365A>T (p.Pro455=)
c.1359A>T (p.Pro453=)
c.1260A>T (p.Pro420=)
c.906A>T (p.Pro302=)
dbSNP gnomAD v3 gnomAD v4
1g.154465240G>ACA342628539IL6Rc.1267G>A (p.Val423Met)
c.*75G>A (n.*75G>A)
n.580G>A
n.465G>A
c.1031G>A (p.Ser344Asn)
c.*108G>A (n.*108G>A)
c.1315G>A (p.Val439Met)
c.1414G>A (p.Val472Met)
c.1366G>A (p.Val456Met)
c.1360G>A (p.Val454Met)
c.1261G>A (p.Val421Met)
c.907G>A (p.Val303Met)
1g.154465240G>CCA342628540IL6Rc.1267G>C (p.Val423Leu)
c.*75G>C (n.*75G>C)
n.580G>C
n.465G>C
c.1031G>C (p.Ser344Thr)
c.*108G>C (n.*108G>C)
c.1315G>C (p.Val439Leu)
c.1414G>C (p.Val472Leu)
c.1366G>C (p.Val456Leu)
c.1360G>C (p.Val454Leu)
c.1261G>C (p.Val421Leu)
c.907G>C (p.Val303Leu)
dbSNP
1g.154465240G=CA2480880297IL6Rc.1267G= (p.Val423=)
c.*75G= (n.*75G=)
n.580G=
n.465G=
c.1031G= (p.Ser344=)
c.*108G= (n.*108G=)
c.1315G= (p.Val439=)
c.1414G= (p.Val472=)
c.1366G= (p.Val456=)
c.1360G= (p.Val454=)
c.1261G= (p.Val421=)
c.907G= (p.Val303=)
1g.154465240G>TCA342628541IL6Rc.1267G>T (p.Val423Leu)
c.*75G>T (n.*75G>T)
n.580G>T
n.465G>T
c.1031G>T (p.Ser344Ile)
c.*108G>T (n.*108G>T)
c.1315G>T (p.Val439Leu)
c.1414G>T (p.Val472Leu)
c.1366G>T (p.Val456Leu)
c.1360G>T (p.Val454Leu)
c.1261G>T (p.Val421Leu)
c.907G>T (p.Val303Leu)
1g.154465241T>ACA342628542IL6Rc.1268T>A (p.Val423Glu)
c.*76T>A (n.*76T>A)
n.581T>A
n.466T>A
c.1032T>A (p.Ser344Arg)
c.*109T>A (n.*109T>A)
c.1316T>A (p.Val439Glu)
c.1415T>A (p.Val472Glu)
c.1367T>A (p.Val456Glu)
c.1361T>A (p.Val454Glu)
c.1262T>A (p.Val421Glu)
c.908T>A (p.Val303Glu)
1g.154465241T>CCA342628543IL6Rc.1268T>C (p.Val423Ala)
c.*76T>C (n.*76T>C)
n.581T>C
n.466T>C
c.1032T>C (p.Ser344=)
c.*109T>C (n.*109T>C)
c.1316T>C (p.Val439Ala)
c.1415T>C (p.Val472Ala)
c.1367T>C (p.Val456Ala)
c.1361T>C (p.Val454Ala)
c.1262T>C (p.Val421Ala)
c.908T>C (p.Val303Ala)
1g.154465241T>GCA342628544IL6Rc.1268T>G (p.Val423Gly)
c.*76T>G (n.*76T>G)
n.581T>G
n.466T>G
c.1032T>G (p.Ser344Arg)
c.*109T>G (n.*109T>G)
c.1316T>G (p.Val439Gly)
c.1415T>G (p.Val472Gly)
c.1367T>G (p.Val456Gly)
c.1361T>G (p.Val454Gly)
c.1262T>G (p.Val421Gly)
c.908T>G (p.Val303Gly)
1g.154465242G>ACA420975953IL6Rc.1269G>A (p.Val423=)
c.*77G>A (n.*77G>A)
n.582G>A
n.467G>A
c.1033G>A (p.Ala345Thr)
c.*110G>A (n.*110G>A)
c.1317G>A (p.Val439=)
c.1416G>A (p.Val472=)
c.1368G>A (p.Val456=)
c.1362G>A (p.Val454=)
c.1263G>A (p.Val421=)
c.909G>A (p.Val303=)
1g.154465242G>CCA420975954IL6Rc.1269G>C (p.Val423=)
c.*77G>C (n.*77G>C)
n.582G>C
n.467G>C
c.1033G>C (p.Ala345Pro)
c.*110G>C (n.*110G>C)
c.1317G>C (p.Val439=)
c.1416G>C (p.Val472=)
c.1368G>C (p.Val456=)
c.1362G>C (p.Val454=)
c.1263G>C (p.Val421=)
c.909G>C (p.Val303=)
1g.154465242G>TCA420975955IL6Rc.1269G>T (p.Val423=)
c.*77G>T (n.*77G>T)
n.582G>T
n.467G>T
c.1033G>T (p.Ala345Ser)
c.*110G>T (n.*110G>T)
c.1317G>T (p.Val439=)
c.1416G>T (p.Val472=)
c.1368G>T (p.Val456=)
c.1362G>T (p.Val454=)
c.1263G>T (p.Val421=)
c.909G>T (p.Val303=)
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)

Number of alleles fetched