Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.154465193C>A | CA342628450 | IL6R | c.1220C>A (p.Pro407Gln) c.*28C>A (n.*28C>A) n.533C>A n.418C>A c.984C>A (p.Ala328=) c.*61C>A (n.*61C>A) c.1268C>A (p.Pro423Gln) c.1367C>A (p.Pro456Gln) c.1319C>A (p.Pro440Gln) c.1313C>A (p.Pro438Gln) c.1214C>A (p.Pro405Gln) c.860C>A (p.Pro287Gln) | |
1 | g.154465193C= | CA1142295999 | IL6R | c.1220C= (p.Pro407=) c.*28C= (n.*28C=) n.533C= n.418C= c.984C= (p.Ala328=) c.*61C= (n.*61C=) c.1268C= (p.Pro423=) c.1367C= (p.Pro456=) c.1319C= (p.Pro440=) c.1313C= (p.Pro438=) c.1214C= (p.Pro405=) c.860C= (p.Pro287=) | |
1 | g.154465193C>G | CA342628449 | IL6R | c.1220C>G (p.Pro407Arg) c.*28C>G (n.*28C>G) n.533C>G n.418C>G c.984C>G (p.Ala328=) c.*61C>G (n.*61C>G) c.1268C>G (p.Pro423Arg) c.1367C>G (p.Pro456Arg) c.1319C>G (p.Pro440Arg) c.1313C>G (p.Pro438Arg) c.1214C>G (p.Pro405Arg) c.860C>G (p.Pro287Arg) | |
1 | g.154465193C>T | CA1129323 | IL6R | c.1220C>T (p.Pro407Leu) c.*28C>T (n.*28C>T) n.533C>T n.418C>T c.984C>T (p.Ala328=) c.*61C>T (n.*61C>T) c.1268C>T (p.Pro423Leu) c.1367C>T (p.Pro456Leu) c.1319C>T (p.Pro440Leu) c.1313C>T (p.Pro438Leu) c.1214C>T (p.Pro405Leu) c.860C>T (p.Pro287Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465194G>A | CA1129324 | IL6R | c.1221G>A (p.Pro407=) c.*29G>A (n.*29G>A) n.534G>A n.419G>A c.985G>A (p.Val329Ile) c.*62G>A (n.*62G>A) c.1269G>A (p.Pro423=) c.1368G>A (p.Pro456=) c.1320G>A (p.Pro440=) c.1314G>A (p.Pro438=) c.1215G>A (p.Pro405=) c.861G>A (p.Pro287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465194G>C | CA420975882 | IL6R | c.1221G>C (p.Pro407=) c.*29G>C (n.*29G>C) n.534G>C n.419G>C c.985G>C (p.Val329Leu) c.*62G>C (n.*62G>C) c.1269G>C (p.Pro423=) c.1368G>C (p.Pro456=) c.1320G>C (p.Pro440=) c.1314G>C (p.Pro438=) c.1215G>C (p.Pro405=) c.861G>C (p.Pro287=) | |
1 | g.154465194G= | CA2480880277 | IL6R | c.1221G= (p.Pro407=) c.*29G= (n.*29G=) n.534G= n.419G= c.985G= (p.Val329=) c.*62G= (n.*62G=) c.1269G= (p.Pro423=) c.1368G= (p.Pro456=) c.1320G= (p.Pro440=) c.1314G= (p.Pro438=) c.1215G= (p.Pro405=) c.861G= (p.Pro287=) | |
1 | g.154465194G>T | CA420975883 | IL6R | c.1221G>T (p.Pro407=) c.*29G>T (n.*29G>T) n.534G>T n.419G>T c.985G>T (p.Val329Leu) c.*62G>T (n.*62G>T) c.1269G>T (p.Pro423=) c.1368G>T (p.Pro456=) c.1320G>T (p.Pro440=) c.1314G>T (p.Pro438=) c.1215G>T (p.Pro405=) c.861G>T (p.Pro287=) | gnomAD v4 |
1 | g.154465195T>A | CA342628451 | IL6R | c.1222T>A (p.Tyr408Asn) c.*30T>A (n.*30T>A) n.535T>A n.420T>A c.986T>A (p.Val329Glu) c.*63T>A (n.*63T>A) c.1270T>A (p.Tyr424Asn) c.1369T>A (p.Tyr457Asn) c.1321T>A (p.Tyr441Asn) c.1315T>A (p.Tyr439Asn) c.1216T>A (p.Tyr406Asn) c.862T>A (p.Tyr288Asn) | |
1 | g.154465195T>C | CA342628452 | IL6R | c.1222T>C (p.Tyr408His) c.*30T>C (n.*30T>C) n.535T>C n.420T>C c.986T>C (p.Val329Ala) c.*63T>C (n.*63T>C) c.1270T>C (p.Tyr424His) c.1369T>C (p.Tyr457His) c.1321T>C (p.Tyr441His) c.1315T>C (p.Tyr439His) c.1216T>C (p.Tyr406His) c.862T>C (p.Tyr288His) | |
1 | g.154465195T>G | CA342628453 | IL6R | c.1222T>G (p.Tyr408Asp) c.*30T>G (n.*30T>G) n.535T>G n.420T>G c.986T>G (p.Val329Gly) c.*63T>G (n.*63T>G) c.1270T>G (p.Tyr424Asp) c.1369T>G (p.Tyr457Asp) c.1321T>G (p.Tyr441Asp) c.1315T>G (p.Tyr439Asp) c.1216T>G (p.Tyr406Asp) c.862T>G (p.Tyr288Asp) | |
1 | g.154465196_154465198del | CA2648156785 | IL6R | c.1223_1225del (p.Tyr408del) c.*31_*33del (n.*31_*33del) n.536_538del n.421_423del c.987_989del (p.Leu330del) c.*64_*66del (n.*64_*66del) c.1271_1273del (p.Tyr424del) c.1370_1372del (p.Tyr457del) c.1322_1324del (p.Tyr441del) c.1316_1318del (p.Tyr439del) c.1217_1219del (p.Tyr406del) c.863_865del (p.Tyr288del) | gnomAD v4 |
1 | g.154465196A>C | CA342628454 | IL6R | c.1223A>C (p.Tyr408Ser) c.*31A>C (n.*31A>C) n.536A>C n.421A>C c.987A>C (p.Val329=) c.*64A>C (n.*64A>C) c.1271A>C (p.Tyr424Ser) c.1370A>C (p.Tyr457Ser) c.1322A>C (p.Tyr441Ser) c.1316A>C (p.Tyr439Ser) c.1217A>C (p.Tyr406Ser) c.863A>C (p.Tyr288Ser) | |
1 | g.154465196A>G | CA342628455 | IL6R | c.1223A>G (p.Tyr408Cys) c.*31A>G (n.*31A>G) n.536A>G n.421A>G c.987A>G (p.Val329=) c.*64A>G (n.*64A>G) c.1271A>G (p.Tyr424Cys) c.1370A>G (p.Tyr457Cys) c.1322A>G (p.Tyr441Cys) c.1316A>G (p.Tyr439Cys) c.1217A>G (p.Tyr406Cys) c.863A>G (p.Tyr288Cys) | |
1 | g.154465196A>T | CA342628456 | IL6R | c.1223A>T (p.Tyr408Phe) c.*31A>T (n.*31A>T) n.536A>T n.421A>T c.987A>T (p.Val329=) c.*64A>T (n.*64A>T) c.1271A>T (p.Tyr424Phe) c.1370A>T (p.Tyr457Phe) c.1322A>T (p.Tyr441Phe) c.1316A>T (p.Tyr439Phe) c.1217A>T (p.Tyr406Phe) c.863A>T (p.Tyr288Phe) | |
1 | g.154465197C>A | CA342628457 | IL6R | c.1224C>A (p.Tyr408Ter) c.*32C>A (n.*32C>A) n.537C>A n.422C>A c.988C>A (p.Leu330Ile) c.*65C>A (n.*65C>A) c.1272C>A (p.Tyr424Ter) c.1371C>A (p.Tyr457Ter) c.1323C>A (p.Tyr441Ter) c.1317C>A (p.Tyr439Ter) c.1218C>A (p.Tyr406Ter) c.864C>A (p.Tyr288Ter) | COSMIC |
1 | g.154465197C= | CA2480880278 | IL6R | c.1224C= (p.Tyr408=) c.*32C= (n.*32C=) n.537C= n.422C= c.988C= (p.Leu330=) c.*65C= (n.*65C=) c.1272C= (p.Tyr424=) c.1371C= (p.Tyr457=) c.1323C= (p.Tyr441=) c.1317C= (p.Tyr439=) c.1218C= (p.Tyr406=) c.864C= (p.Tyr288=) | |
1 | g.154465197C>G | CA342628458 | IL6R | c.1224C>G (p.Tyr408Ter) c.*32C>G (n.*32C>G) n.537C>G n.422C>G c.988C>G (p.Leu330Val) c.*65C>G (n.*65C>G) c.1272C>G (p.Tyr424Ter) c.1371C>G (p.Tyr457Ter) c.1323C>G (p.Tyr441Ter) c.1317C>G (p.Tyr439Ter) c.1218C>G (p.Tyr406Ter) c.864C>G (p.Tyr288Ter) | |
1 | g.154465197C>T | CA420975885 | IL6R | c.1224C>T (p.Tyr408=) c.*32C>T (n.*32C>T) n.537C>T n.422C>T c.988C>T (p.Leu330Phe) c.*65C>T (n.*65C>T) c.1272C>T (p.Tyr424=) c.1371C>T (p.Tyr457=) c.1323C>T (p.Tyr441=) c.1317C>T (p.Tyr439=) c.1218C>T (p.Tyr406=) c.864C>T (p.Tyr288=) | dbSNP |
1 | g.154465198T>A | CA342628459 | IL6R | c.1225T>A (p.Ser409Thr) c.*33T>A (n.*33T>A) n.538T>A n.423T>A c.989T>A (p.Leu330His) c.*66T>A (n.*66T>A) c.1273T>A (p.Ser425Thr) c.1372T>A (p.Ser458Thr) c.1324T>A (p.Ser442Thr) c.1318T>A (p.Ser440Thr) c.1219T>A (p.Ser407Thr) c.865T>A (p.Ser289Thr) | |
1 | g.154465198T>C | CA342628460 | IL6R | c.1225T>C (p.Ser409Pro) c.*33T>C (n.*33T>C) n.538T>C n.423T>C c.989T>C (p.Leu330Pro) c.*66T>C (n.*66T>C) c.1273T>C (p.Ser425Pro) c.1372T>C (p.Ser458Pro) c.1324T>C (p.Ser442Pro) c.1318T>C (p.Ser440Pro) c.1219T>C (p.Ser407Pro) c.865T>C (p.Ser289Pro) | |
1 | g.154465198T>G | CA342628461 | IL6R | c.1225T>G (p.Ser409Ala) c.*33T>G (n.*33T>G) n.538T>G n.423T>G c.989T>G (p.Leu330Arg) c.*66T>G (n.*66T>G) c.1273T>G (p.Ser425Ala) c.1372T>G (p.Ser458Ala) c.1324T>G (p.Ser442Ala) c.1318T>G (p.Ser440Ala) c.1219T>G (p.Ser407Ala) c.865T>G (p.Ser289Ala) | |
1 | g.154465199C>A | CA342628462 | IL6R | c.1226C>A (p.Ser409Tyr) c.*34C>A (n.*34C>A) n.539C>A n.424C>A c.990C>A (p.Leu330=) c.*67C>A (n.*67C>A) c.1274C>A (p.Ser425Tyr) c.1373C>A (p.Ser458Tyr) c.1325C>A (p.Ser442Tyr) c.1319C>A (p.Ser440Tyr) c.1220C>A (p.Ser407Tyr) c.866C>A (p.Ser289Tyr) | |
1 | g.154465199C= | CA2480880279 | IL6R | c.1226C= (p.Ser409=) c.*34C= (n.*34C=) n.539C= n.424C= c.990C= (p.Leu330=) c.*67C= (n.*67C=) c.1274C= (p.Ser425=) c.1373C= (p.Ser458=) c.1325C= (p.Ser442=) c.1319C= (p.Ser440=) c.1220C= (p.Ser407=) c.866C= (p.Ser289=) | |
1 | g.154465199C>G | CA342628463 | IL6R | c.1226C>G (p.Ser409Cys) c.*34C>G (n.*34C>G) n.539C>G n.424C>G c.990C>G (p.Leu330=) c.*67C>G (n.*67C>G) c.1274C>G (p.Ser425Cys) c.1373C>G (p.Ser458Cys) c.1325C>G (p.Ser442Cys) c.1319C>G (p.Ser440Cys) c.1220C>G (p.Ser407Cys) c.866C>G (p.Ser289Cys) | |
1 | g.154465199C>T | CA342628464 | IL6R | c.1226C>T (p.Ser409Phe) c.*34C>T (n.*34C>T) n.539C>T n.424C>T c.990C>T (p.Leu330=) c.*67C>T (n.*67C>T) c.1274C>T (p.Ser425Phe) c.1373C>T (p.Ser458Phe) c.1325C>T (p.Ser442Phe) c.1319C>T (p.Ser440Phe) c.1220C>T (p.Ser407Phe) c.866C>T (p.Ser289Phe) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154465200T>A | CA420975889 | IL6R | c.1227T>A (p.Ser409=) c.*35T>A (n.*35T>A) n.540T>A n.425T>A c.991T>A (p.Phe331Ile) c.*68T>A (n.*68T>A) c.1275T>A (p.Ser425=) c.1374T>A (p.Ser458=) c.1326T>A (p.Ser442=) c.1320T>A (p.Ser440=) c.1221T>A (p.Ser407=) c.867T>A (p.Ser289=) | |
1 | g.154465200T>C | CA420975890 | IL6R | c.1227T>C (p.Ser409=) c.*35T>C (n.*35T>C) n.540T>C n.425T>C c.991T>C (p.Phe331Leu) c.*68T>C (n.*68T>C) c.1275T>C (p.Ser425=) c.1374T>C (p.Ser458=) c.1326T>C (p.Ser442=) c.1320T>C (p.Ser440=) c.1221T>C (p.Ser407=) c.867T>C (p.Ser289=) | dbSNP |
1 | g.154465200T>G | CA420975891 | IL6R | c.1227T>G (p.Ser409=) c.*35T>G (n.*35T>G) n.540T>G n.425T>G c.991T>G (p.Phe331Val) c.*68T>G (n.*68T>G) c.1275T>G (p.Ser425=) c.1374T>G (p.Ser458=) c.1326T>G (p.Ser442=) c.1320T>G (p.Ser440=) c.1221T>G (p.Ser407=) c.867T>G (p.Ser289=) | gnomAD v4 |
1 | g.154465200T= | CA2480880280 | IL6R | c.1227T= (p.Ser409=) c.*35T= (n.*35T=) n.540T= n.425T= c.991T= (p.Phe331=) c.*68T= (n.*68T=) c.1275T= (p.Ser425=) c.1374T= (p.Ser458=) c.1326T= (p.Ser442=) c.1320T= (p.Ser440=) c.1221T= (p.Ser407=) c.867T= (p.Ser289=) | |
1 | g.154465201T>A | CA342628465 | IL6R | c.1228T>A (p.Leu410Met) c.*36T>A (n.*36T>A) n.541T>A n.426T>A c.992T>A (p.Phe331Tyr) c.*69T>A (n.*69T>A) c.1276T>A (p.Leu426Met) c.1375T>A (p.Leu459Met) c.1327T>A (p.Leu443Met) c.1321T>A (p.Leu441Met) c.1222T>A (p.Leu408Met) c.868T>A (p.Leu290Met) | |
1 | g.154465201T>C | CA420975892 | IL6R | c.1228T>C (p.Leu410=) c.*36T>C (n.*36T>C) n.541T>C n.426T>C c.992T>C (p.Phe331Ser) c.*69T>C (n.*69T>C) c.1276T>C (p.Leu426=) c.1375T>C (p.Leu459=) c.1327T>C (p.Leu443=) c.1321T>C (p.Leu441=) c.1222T>C (p.Leu408=) c.868T>C (p.Leu290=) | dbSNP gnomAD v4 |
1 | g.154465201T>G | CA342628466 | IL6R | c.1228T>G (p.Leu410Val) c.*36T>G (n.*36T>G) n.541T>G n.426T>G c.992T>G (p.Phe331Cys) c.*69T>G (n.*69T>G) c.1276T>G (p.Leu426Val) c.1375T>G (p.Leu459Val) c.1327T>G (p.Leu443Val) c.1321T>G (p.Leu441Val) c.1222T>G (p.Leu408Val) c.868T>G (p.Leu290Val) | |
1 | g.154465202T>A | CA342628467 | IL6R | c.1229T>A (p.Leu410Ter) c.*37T>A (n.*37T>A) n.542T>A n.427T>A c.993T>A (p.Phe331Leu) c.*70T>A (n.*70T>A) c.1277T>A (p.Leu426Ter) c.1376T>A (p.Leu459Ter) c.1328T>A (p.Leu443Ter) c.1322T>A (p.Leu441Ter) c.1223T>A (p.Leu408Ter) c.869T>A (p.Leu290Ter) | dbSNP |
1 | g.154465202T>C | CA342628468 | IL6R | c.1229T>C (p.Leu410Ser) c.*37T>C (n.*37T>C) n.542T>C n.427T>C c.993T>C (p.Phe331=) c.*70T>C (n.*70T>C) c.1277T>C (p.Leu426Ser) c.1376T>C (p.Leu459Ser) c.1328T>C (p.Leu443Ser) c.1322T>C (p.Leu441Ser) c.1223T>C (p.Leu408Ser) c.869T>C (p.Leu290Ser) | |
1 | g.154465202T>G | CA342628469 | IL6R | c.1229T>G (p.Leu410Trp) c.*37T>G (n.*37T>G) n.542T>G n.427T>G c.993T>G (p.Phe331Leu) c.*70T>G (n.*70T>G) c.1277T>G (p.Leu426Trp) c.1376T>G (p.Leu459Trp) c.1328T>G (p.Leu443Trp) c.1322T>G (p.Leu441Trp) c.1223T>G (p.Leu408Trp) c.869T>G (p.Leu290Trp) | |
1 | g.154465202T= | CA2480880281 | IL6R | c.1229T= (p.Leu410=) c.*37T= (n.*37T=) n.542T= n.427T= c.993T= (p.Phe331=) c.*70T= (n.*70T=) c.1277T= (p.Leu426=) c.1376T= (p.Leu459=) c.1328T= (p.Leu443=) c.1322T= (p.Leu441=) c.1223T= (p.Leu408=) c.869T= (p.Leu290=) | |
1 | g.154465203G>A | CA1129326 | IL6R | c.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 |
1 | g.154465203G>C | CA342628470 | IL6R | c.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 |
1 | g.154465203G= | CA2480880282 | IL6R | c.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=) | |
1 | g.154465203G>T | CA1129325 | IL6R | c.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 |
1 | g.154465204G>A | CA1129327 | IL6R | c.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 |
1 | g.154465204G>C | CA342628471 | IL6R | c.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 |
1 | g.154465204G= | CA2480880283 | IL6R | c.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=) | |
1 | g.154465204G>T | CA342628472 | IL6R | c.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) | |
1 | g.154465205G>A | CA342628473 | IL6R | c.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) | |
1 | g.154465205G>C | CA342628474 | IL6R | c.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) | |
1 | g.154465205G>T | CA342628475 | IL6R | c.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) | |
1 | g.154465206G>A | CA420975897 | IL6R | c.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 |
1 | g.154465206G>C | CA420975899 | IL6R | c.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=) | |
1 | g.154465206G= | CA2480880284 | IL6R | c.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=) | |
1 | g.154465206G>T | CA420975901 | IL6R | c.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=) | |
1 | g.154465207C>A | CA342628477 | IL6R | c.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) | |
1 | g.154465207C>G | CA342628478 | IL6R | c.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) | |
1 | g.154465207C>T | CA342628476 | IL6R | c.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) | |
1 | g.154465208A>C | CA342628479 | IL6R | c.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) | |
1 | g.154465208A>G | CA342628481 | IL6R | c.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) | |
1 | g.154465208A>T | CA342628480 | IL6R | c.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) | |
1 | g.154465209G>A | CA420975902 | IL6R | c.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 |
1 | g.154465209G>C | CA342628482 | IL6R | c.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) | |
1 | g.154465209G>T | CA342628483 | IL6R | c.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) | |
1 | g.154465210C>A | CA30816411 | IL6R | c.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 |
1 | g.154465210C= | CA2480880285 | IL6R | c.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=) | |
1 | g.154465210C>G | CA342628484 | IL6R | c.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) | |
1 | g.154465210C>T | CA420975906 | IL6R | c.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=) | |
1 | g.154465211T>A | CA342628485 | IL6R | c.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) | |
1 | g.154465211T>C | CA342628486 | IL6R | c.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) | |
1 | g.154465211T>G | CA342628487 | IL6R | c.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 |
1 | g.154465211T= | CA2480880286 | IL6R | c.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=) | |
1 | g.154465211_154465222delinsTGGTCCCGGAGA | CA2480880287 | IL6R | c.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=) | |
1 | g.154465212G>A | CA420975910 | IL6R | c.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=) | |
1 | g.154465212G>C | CA420975912 | IL6R | c.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=) | |
1 | g.154465212G= | CA2480880288 | IL6R | c.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=) | |
1 | g.154465212G>T | CA420975908 | IL6R | c.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 |
1 | g.154465214_154465224del | CA1129328 | IL6R | c.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 |
1 | g.154465213G>A | CA342628488 | IL6R | c.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 |
1 | g.154465213G>C | CA342628489 | IL6R | c.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) | |
1 | g.154465213G>T | CA342628490 | IL6R | c.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) | |
1 | g.154465214T>A | CA342628491 | IL6R | c.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) | |
1 | g.154465214T>C | CA342628492 | IL6R | c.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) | |
1 | g.154465214T>G | CA342628493 | IL6R | c.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) | |
1 | g.154465215C>A | CA1129329 | IL6R | c.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 |
1 | g.154465215C= | CA1148464038 | IL6R | c.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=) | |
1 | g.154465215C>G | CA420975913 | IL6R | c.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=) | |
1 | g.154465215C>T | CA420975914 | IL6R | c.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=) | |
1 | g.154465216C>A | CA342628494 | IL6R | c.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) | |
1 | g.154465216C>G | CA342628496 | IL6R | c.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) | |
1 | g.154465216C>T | CA342628495 | IL6R | c.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 |
1 | g.154465217C>A | CA342628497 | IL6R | c.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) | |
1 | g.154465217C= | CA1141885846 | IL6R | c.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=) | |
1 | g.154465217C>G | CA342628498 | IL6R | c.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) | |
1 | g.154465217C>T | CA1129330 | IL6R | c.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 |
1 | g.154465218G>A | CA1129331 | IL6R | c.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 |
1 | g.154465218G>C | CA420975916 | IL6R | c.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=) | |
1 | g.154465218G= | CA1142095293 | IL6R | c.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=) | |
1 | g.154465218G>T | CA420975917 | IL6R | c.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=) | |
1 | g.154465219G>A | CA342628499 | IL6R | c.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 |
1 | g.154465219G>C | CA342628500 | IL6R | c.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) | |
1 | g.154465219G>T | CA342628501 | IL6R | c.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) | |
1 | g.154465220A>C | CA342628502 | IL6R | c.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) | |
1 | g.154465220A>G | CA342628503 | IL6R | c.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 |
1 | g.154465220A>T | CA342628504 | IL6R | c.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) | |
1 | g.154465221G>A | CA420975920 | IL6R | c.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 |
1 | g.154465221G>C | CA342628506 | IL6R | c.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) | |
1 | g.154465221G>T | CA342628505 | IL6R | c.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) | |
1 | g.154465222A>C | CA420975922 | IL6R | c.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=) | |
1 | g.154465222A>G | CA342628507 | IL6R | c.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) | |
1 | g.154465222A>T | CA342628508 | IL6R | c.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) | |
1 | g.154465223G>A | CA342628509 | IL6R | c.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) | |
1 | g.154465223G>C | CA342628510 | IL6R | c.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) | |
1 | g.154465223G>T | CA342628511 | IL6R | c.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) | |
1 | g.154465224G>A | CA420975925 | IL6R | c.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 |
1 | g.154465224G>C | CA342628512 | IL6R | c.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) | |
1 | g.154465224G>T | CA342628513 | IL6R | c.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) | |
1 | g.154465225C>A | CA342628514 | IL6R | c.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) | |
1 | g.154465225C>G | CA342628515 | IL6R | c.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) | |
1 | g.154465225C>T | CA342628516 | IL6R | c.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) | |
1 | g.154465226C>A | CA342628517 | IL6R | c.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) | |
1 | g.154465226C>G | CA342628518 | IL6R | c.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) | |
1 | g.154465226C>T | CA342628519 | IL6R | c.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 |
1 | g.154465227T>A | CA420975927 | IL6R | c.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=) | |
1 | g.154465227T>C | CA420975928 | IL6R | c.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=) | |
1 | g.154465227T>G | CA420975929 | IL6R | c.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=) | |
1 | g.154465228C>A | CA420975931 | IL6R | c.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=) | |
1 | g.154465228C= | CA1148870500 | IL6R | c.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=) | |
1 | g.154465228C>G | CA342628520 | IL6R | c.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) | |
1 | g.154465228C>T | CA1129332 | IL6R | c.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 |
1 | g.154465229G>A | CA342628521 | IL6R | c.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 |
1 | g.154465229G>C | CA342628522 | IL6R | c.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 |
1 | g.154465229G= | CA2480880289 | IL6R | c.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=) | |
1 | g.154465229G>T | CA342628523 | IL6R | c.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) | |
1 | g.154465230A= | CA2480880290 | IL6R | c.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=) | |
1 | g.154465230A>C | CA420975936 | IL6R | c.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 |
1 | g.154465230A>G | CA420975937 | IL6R | c.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 |
1 | g.154465230A>T | CA420975938 | IL6R | c.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=) | |
1 | g.154465231C>A | CA342628524 | IL6R | c.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 |
1 | g.154465231C= | CA1144117555 | IL6R | c.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=) | |
1 | g.154465231C>G | CA342628525 | IL6R | c.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) | |
1 | g.154465231C>T | CA1129333 | IL6R | c.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 |
1 | g.154465233del | CA2580061093 | IL6R | c.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 |
1 | g.154465232C>A | CA342628526 | IL6R | c.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) | |
1 | g.154465232C= | CA2480880291 | IL6R | c.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=) | |
1 | g.154465232C>G | CA342628527 | IL6R | c.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) | |
1 | g.154465232C>T | CA342628528 | IL6R | c.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 |
1 | g.154465233C>A | CA420975944 | IL6R | c.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=) | |
1 | g.154465233C= | CA2480880292 | IL6R | c.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=) | |
1 | g.154465233C>G | CA420975943 | IL6R | c.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=) | |
1 | g.154465233C>T | CA420975942 | IL6R | c.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 |
1 | g.154465234A= | CA2480880293 | IL6R | c.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=) | |
1 | g.154465234A>C | CA1129334 | IL6R | c.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 |
1 | g.154465234A>G | CA342628529 | IL6R | c.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) | |
1 | g.154465234A>T | CA342628530 | IL6R | c.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 |
1 | g.154465235C>A | CA342628532 | IL6R | c.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 |
1 | g.154465235C= | CA1149110354 | IL6R | c.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=) | |
1 | g.154465235C>G | CA342628531 | IL6R | c.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) | |
1 | g.154465235C>T | CA1129335 | IL6R | c.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 |
1 | g.154465238dup | CA2648156786 | IL6R | c.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 |
1 | g.154465236C>A | CA420975945 | IL6R | c.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=) | |
1 | g.154465236C= | CA2480880294 | IL6R | c.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=) | |
1 | g.154465236C>G | CA420975946 | IL6R | c.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=) | |
1 | g.154465236C>T | CA420975947 | IL6R | c.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 |
1 | g.154465237C>A | CA342628533 | IL6R | c.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) | |
1 | g.154465237C>G | CA342628535 | IL6R | c.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) | |
1 | g.154465237C>T | CA342628534 | IL6R | c.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) | |
1 | g.154465238C>A | CA342628536 | IL6R | c.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) | |
1 | g.154465238C= | CA2480880295 | IL6R | c.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=) | |
1 | g.154465238C>G | CA342628537 | IL6R | c.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 |
1 | g.154465238C>T | CA342628538 | IL6R | c.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 |
1 | g.154465274_154465275insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC | CA2604852919 | IL6R | c.1301_1302insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (p.Ser435AspfsTer25) c.*109_*110insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (n.*109_*110insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC) n.499_500insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC c.1065_1066insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (p.Gln356ArgfsTer?) c.*142_*143insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (n.*142_*143insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC) c.1349_1350insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (p.Ser451AspfsTer25) c.1448_1449insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (p.Ser484AspfsTer25) c.1400_1401insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (p.Ser468AspfsTer25) c.1394_1395insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (p.Ser466AspfsTer25) c.1295_1296insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (p.Ser433AspfsTer25) c.941_942insAGACCCACCCCAGTGCTTGTTCAGTGCTTGTTCCTCTCATCTCCCCACCGGTGTCCCC (p.Ser315AspfsTer25) | gnomAD v3 gnomAD v4 |
1 | g.154465239A= | CA2480880296 | IL6R | c.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=) | |
1 | g.154465239A>C | CA420975949 | IL6R | c.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=) | |
1 | g.154465239A>G | CA420975950 | IL6R | c.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 |
1 | g.154465239A>T | CA420975951 | IL6R | c.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 |
1 | g.154465240G>A | CA342628539 | IL6R | c.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) | |
1 | g.154465240G>C | CA342628540 | IL6R | c.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 |
1 | g.154465240G= | CA2480880297 | IL6R | c.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=) | |
1 | g.154465240G>T | CA342628541 | IL6R | c.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) | |
1 | g.154465241T>A | CA342628542 | IL6R | c.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) | |
1 | g.154465241T>C | CA342628543 | IL6R | c.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) | |
1 | g.154465241T>G | CA342628544 | IL6R | c.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) | |
1 | g.154465242G>A | CA420975953 | IL6R | c.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=) | |
1 | g.154465242G>C | CA420975954 | IL6R | c.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=) | |
1 | g.154465242G>T | CA420975955 | IL6R | c.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=) | |
1 | g.154465243C>A | CA342628545 | IL6R | c.1270C>A (p.Leu424Ile) c.*78C>A (n.*78C>A) n.583C>A n.468C>A c.1034C>A (p.Ala345Asp) c.*111C>A (n.*111C>A) c.1318C>A (p.Leu440Ile) c.1417C>A (p.Leu473Ile) c.1369C>A (p.Leu457Ile) c.1363C>A (p.Leu455Ile) c.1264C>A (p.Leu422Ile) c.910C>A (p.Leu304Ile) | |
1 | g.154465243C= | CA1141952646 | IL6R | c.1270C= (p.Leu424=) c.*78C= (n.*78C=) n.583C= n.468C= c.1034C= (p.Ala345=) c.*111C= (n.*111C=) c.1318C= (p.Leu440=) c.1417C= (p.Leu473=) c.1369C= (p.Leu457=) c.1363C= (p.Leu455=) c.1264C= (p.Leu422=) c.910C= (p.Leu304=) | |
1 | g.154465243C>G | CA342628546 | IL6R | c.1270C>G (p.Leu424Val) c.*78C>G (n.*78C>G) n.583C>G n.468C>G c.1034C>G (p.Ala345Gly) c.*111C>G (n.*111C>G) c.1318C>G (p.Leu440Val) c.1417C>G (p.Leu473Val) c.1369C>G (p.Leu457Val) c.1363C>G (p.Leu455Val) c.1264C>G (p.Leu422Val) c.910C>G (p.Leu304Val) | |
1 | g.154465243C>T | CA1129336 | IL6R | c.1270C>T (p.Leu424Phe) c.*78C>T (n.*78C>T) n.583C>T n.468C>T c.1034C>T (p.Ala345Val) c.*111C>T (n.*111C>T) c.1318C>T (p.Leu440Phe) c.1417C>T (p.Leu473Phe) c.1369C>T (p.Leu457Phe) c.1363C>T (p.Leu455Phe) c.1264C>T (p.Leu422Phe) c.910C>T (p.Leu304Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465244T>A | CA342628547 | IL6R | c.1271T>A (p.Leu424His) c.*79T>A (n.*79T>A) n.584T>A n.469T>A c.1035T>A (p.Ala345=) c.*112T>A (n.*112T>A) c.1319T>A (p.Leu440His) c.1418T>A (p.Leu473His) c.1370T>A (p.Leu457His) c.1364T>A (p.Leu455His) c.1265T>A (p.Leu422His) c.911T>A (p.Leu304His) | |
1 | g.154465244T>C | CA342628549 | IL6R | c.1271T>C (p.Leu424Pro) c.*79T>C (n.*79T>C) n.584T>C n.469T>C c.1035T>C (p.Ala345=) c.*112T>C (n.*112T>C) c.1319T>C (p.Leu440Pro) c.1418T>C (p.Leu473Pro) c.1370T>C (p.Leu457Pro) c.1364T>C (p.Leu455Pro) c.1265T>C (p.Leu422Pro) c.911T>C (p.Leu304Pro) | |
1 | g.154465244T>G | CA342628548 | IL6R | c.1271T>G (p.Leu424Arg) c.*79T>G (n.*79T>G) n.584T>G n.469T>G c.1035T>G (p.Ala345=) c.*112T>G (n.*112T>G) c.1319T>G (p.Leu440Arg) c.1418T>G (p.Leu473Arg) c.1370T>G (p.Leu457Arg) c.1364T>G (p.Leu455Arg) c.1265T>G (p.Leu422Arg) c.911T>G (p.Leu304Arg) | |
1 | g.154465245T>A | CA420975957 | IL6R | c.1272T>A (p.Leu424=) c.*80T>A (n.*80T>A) n.585T>A n.470T>A c.1036T>A (p.Cys346Ser) c.*113T>A (n.*113T>A) c.1320T>A (p.Leu440=) c.1419T>A (p.Leu473=) c.1371T>A (p.Leu457=) c.1365T>A (p.Leu455=) c.1266T>A (p.Leu422=) c.912T>A (p.Leu304=) | |
1 | g.154465245T>C | CA420975958 | IL6R | c.1272T>C (p.Leu424=) c.*80T>C (n.*80T>C) n.585T>C n.470T>C c.1036T>C (p.Cys346Arg) c.*113T>C (n.*113T>C) c.1320T>C (p.Leu440=) c.1419T>C (p.Leu473=) c.1371T>C (p.Leu457=) c.1365T>C (p.Leu455=) c.1266T>C (p.Leu422=) c.912T>C (p.Leu304=) | |
1 | g.154465245T>G | CA420975959 | IL6R | c.1272T>G (p.Leu424=) c.*80T>G (n.*80T>G) n.585T>G n.470T>G c.1036T>G (p.Cys346Gly) c.*113T>G (n.*113T>G) c.1320T>G (p.Leu440=) c.1419T>G (p.Leu473=) c.1371T>G (p.Leu457=) c.1365T>G (p.Leu455=) c.1266T>G (p.Leu422=) c.912T>G (p.Leu304=) | |
1 | g.154465246G>A | CA342628550 | IL6R | c.1273G>A (p.Val425Ile) c.*81G>A (n.*81G>A) n.586G>A n.471G>A c.1037G>A (p.Cys346Tyr) c.*114G>A (n.*114G>A) c.1321G>A (p.Val441Ile) c.1420G>A (p.Val474Ile) c.1372G>A (p.Val458Ile) c.1366G>A (p.Val456Ile) c.1267G>A (p.Val423Ile) c.913G>A (p.Val305Ile) | dbSNP gnomAD v4 |
1 | g.154465246G>C | CA342628551 | IL6R | c.1273G>C (p.Val425Leu) c.*81G>C (n.*81G>C) n.586G>C n.471G>C c.1037G>C (p.Cys346Ser) c.*114G>C (n.*114G>C) c.1321G>C (p.Val441Leu) c.1420G>C (p.Val474Leu) c.1372G>C (p.Val458Leu) c.1366G>C (p.Val456Leu) c.1267G>C (p.Val423Leu) c.913G>C (p.Val305Leu) | gnomAD v4 |
1 | g.154465246G= | CA2480880298 | IL6R | c.1273G= (p.Val425=) c.*81G= (n.*81G=) n.586G= n.471G= c.1037G= (p.Cys346=) c.*114G= (n.*114G=) c.1321G= (p.Val441=) c.1420G= (p.Val474=) c.1372G= (p.Val458=) c.1366G= (p.Val456=) c.1267G= (p.Val423=) c.913G= (p.Val305=) | |
1 | g.154465246G>T | CA342628552 | IL6R | c.1273G>T (p.Val425Phe) c.*81G>T (n.*81G>T) n.586G>T n.471G>T c.1037G>T (p.Cys346Phe) c.*114G>T (n.*114G>T) c.1321G>T (p.Val441Phe) c.1420G>T (p.Val474Phe) c.1372G>T (p.Val458Phe) c.1366G>T (p.Val456Phe) c.1267G>T (p.Val423Phe) c.913G>T (p.Val305Phe) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154465247T>A | CA342628553 | IL6R | c.1274T>A (p.Val425Asp) c.*82T>A (n.*82T>A) n.587T>A n.472T>A c.1038T>A (p.Cys346Ter) c.*115T>A (n.*115T>A) c.1322T>A (p.Val441Asp) c.1421T>A (p.Val474Asp) c.1373T>A (p.Val458Asp) c.1367T>A (p.Val456Asp) c.1268T>A (p.Val423Asp) c.914T>A (p.Val305Asp) | |
1 | g.154465247T>C | CA342628554 | IL6R | c.1274T>C (p.Val425Ala) c.*82T>C (n.*82T>C) n.587T>C n.472T>C c.1038T>C (p.Cys346=) c.*115T>C (n.*115T>C) c.1322T>C (p.Val441Ala) c.1421T>C (p.Val474Ala) c.1373T>C (p.Val458Ala) c.1367T>C (p.Val456Ala) c.1268T>C (p.Val423Ala) c.914T>C (p.Val305Ala) | |
1 | g.154465247T>G | CA342628555 | IL6R | c.1274T>G (p.Val425Gly) c.*82T>G (n.*82T>G) n.587T>G n.472T>G c.1038T>G (p.Cys346Trp) c.*115T>G (n.*115T>G) c.1322T>G (p.Val441Gly) c.1421T>G (p.Val474Gly) c.1373T>G (p.Val458Gly) c.1367T>G (p.Val456Gly) c.1268T>G (p.Val423Gly) c.914T>G (p.Val305Gly) | |
1 | g.154465248T>A | CA420975962 | IL6R | c.1275T>A (p.Val425=) c.*83T>A (n.*83T>A) n.588T>A n.473T>A c.1039T>A (p.Ser347Thr) c.*116T>A (n.*116T>A) c.1323T>A (p.Val441=) c.1422T>A (p.Val474=) c.1374T>A (p.Val458=) c.1368T>A (p.Val456=) c.1269T>A (p.Val423=) c.915T>A (p.Val305=) | |
1 | g.154465248T>C | CA420975963 | IL6R | c.1275T>C (p.Val425=) c.*83T>C (n.*83T>C) n.588T>C n.473T>C c.1039T>C (p.Ser347Pro) c.*116T>C (n.*116T>C) c.1323T>C (p.Val441=) c.1422T>C (p.Val474=) c.1374T>C (p.Val458=) c.1368T>C (p.Val456=) c.1269T>C (p.Val423=) c.915T>C (p.Val305=) | |
1 | g.154465248T>G | CA420975964 | IL6R | c.1275T>G (p.Val425=) c.*83T>G (n.*83T>G) n.588T>G n.473T>G c.1039T>G (p.Ser347Ala) c.*116T>G (n.*116T>G) c.1323T>G (p.Val441=) c.1422T>G (p.Val474=) c.1374T>G (p.Val458=) c.1368T>G (p.Val456=) c.1269T>G (p.Val423=) c.915T>G (p.Val305=) | |
1 | g.154465249C>A | CA342628556 | IL6R | c.1276C>A (p.Pro426Thr) c.*84C>A (n.*84C>A) n.474C>A c.1040C>A (p.Ser347Tyr) c.*117C>A (n.*117C>A) c.1324C>A (p.Pro442Thr) c.1423C>A (p.Pro475Thr) c.1375C>A (p.Pro459Thr) c.1369C>A (p.Pro457Thr) c.1270C>A (p.Pro424Thr) c.916C>A (p.Pro306Thr) | |
1 | g.154465249C>G | CA342628557 | IL6R | c.1276C>G (p.Pro426Ala) c.*84C>G (n.*84C>G) n.474C>G c.1040C>G (p.Ser347Cys) c.*117C>G (n.*117C>G) c.1324C>G (p.Pro442Ala) c.1423C>G (p.Pro475Ala) c.1375C>G (p.Pro459Ala) c.1369C>G (p.Pro457Ala) c.1270C>G (p.Pro424Ala) c.916C>G (p.Pro306Ala) | |
1 | g.154465249C>T | CA342628558 | IL6R | c.1276C>T (p.Pro426Ser) c.*84C>T (n.*84C>T) n.474C>T c.1040C>T (p.Ser347Phe) c.*117C>T (n.*117C>T) c.1324C>T (p.Pro442Ser) c.1423C>T (p.Pro475Ser) c.1375C>T (p.Pro459Ser) c.1369C>T (p.Pro457Ser) c.1270C>T (p.Pro424Ser) c.916C>T (p.Pro306Ser) | |
1 | g.154465250C>A | CA342628560 | IL6R | c.1277C>A (p.Pro426His) c.*85C>A (n.*85C>A) n.475C>A c.1041C>A (p.Ser347=) c.*118C>A (n.*118C>A) c.1325C>A (p.Pro442His) c.1424C>A (p.Pro475His) c.1376C>A (p.Pro459His) c.1370C>A (p.Pro457His) c.1271C>A (p.Pro424His) c.917C>A (p.Pro306His) | |
1 | g.154465250C>G | CA342628561 | IL6R | c.1277C>G (p.Pro426Arg) c.*85C>G (n.*85C>G) n.475C>G c.1041C>G (p.Ser347=) c.*118C>G (n.*118C>G) c.1325C>G (p.Pro442Arg) c.1424C>G (p.Pro475Arg) c.1376C>G (p.Pro459Arg) c.1370C>G (p.Pro457Arg) c.1271C>G (p.Pro424Arg) c.917C>G (p.Pro306Arg) | |
1 | g.154465250C>T | CA342628559 | IL6R | c.1277C>T (p.Pro426Leu) c.*85C>T (n.*85C>T) n.475C>T c.1041C>T (p.Ser347=) c.*118C>T (n.*118C>T) c.1325C>T (p.Pro442Leu) c.1424C>T (p.Pro475Leu) c.1376C>T (p.Pro459Leu) c.1370C>T (p.Pro457Leu) c.1271C>T (p.Pro424Leu) c.917C>T (p.Pro306Leu) | gnomAD v4 |
1 | g.154465251T>A | CA420975965 | IL6R | c.1278T>A (p.Pro426=) c.*86T>A (n.*86T>A) n.476T>A c.1042T>A (p.Ser348Thr) c.*119T>A (n.*119T>A) c.1326T>A (p.Pro442=) c.1425T>A (p.Pro475=) c.1377T>A (p.Pro459=) c.1371T>A (p.Pro457=) c.1272T>A (p.Pro424=) c.918T>A (p.Pro306=) | |
1 | g.154465251T>C | CA420975966 | IL6R | c.1278T>C (p.Pro426=) c.*86T>C (n.*86T>C) n.476T>C c.1042T>C (p.Ser348Pro) c.*119T>C (n.*119T>C) c.1326T>C (p.Pro442=) c.1425T>C (p.Pro475=) c.1377T>C (p.Pro459=) c.1371T>C (p.Pro457=) c.1272T>C (p.Pro424=) c.918T>C (p.Pro306=) | |
1 | g.154465251T>G | CA420975967 | IL6R | c.1278T>G (p.Pro426=) c.*86T>G (n.*86T>G) n.476T>G c.1042T>G (p.Ser348Ala) c.*119T>G (n.*119T>G) c.1326T>G (p.Pro442=) c.1425T>G (p.Pro475=) c.1377T>G (p.Pro459=) c.1371T>G (p.Pro457=) c.1272T>G (p.Pro424=) c.918T>G (p.Pro306=) | |
1 | g.154465252C>A | CA342628562 | IL6R | c.1279C>A (p.Leu427Ile) c.*87C>A (n.*87C>A) n.477C>A c.1043C>A (p.Ser348Tyr) c.*120C>A (n.*120C>A) c.1327C>A (p.Leu443Ile) c.1426C>A (p.Leu476Ile) c.1378C>A (p.Leu460Ile) c.1372C>A (p.Leu458Ile) c.1273C>A (p.Leu425Ile) c.919C>A (p.Leu307Ile) | |
1 | g.154465252C>G | CA342628563 | IL6R | c.1279C>G (p.Leu427Val) c.*87C>G (n.*87C>G) n.477C>G c.1043C>G (p.Ser348Cys) c.*120C>G (n.*120C>G) c.1327C>G (p.Leu443Val) c.1426C>G (p.Leu476Val) c.1378C>G (p.Leu460Val) c.1372C>G (p.Leu458Val) c.1273C>G (p.Leu425Val) c.919C>G (p.Leu307Val) | gnomAD v4 |
1 | g.154465252C>T | CA342628564 | IL6R | c.1279C>T (p.Leu427Phe) c.*87C>T (n.*87C>T) n.477C>T c.1043C>T (p.Ser348Phe) c.*120C>T (n.*120C>T) c.1327C>T (p.Leu443Phe) c.1426C>T (p.Leu476Phe) c.1378C>T (p.Leu460Phe) c.1372C>T (p.Leu458Phe) c.1273C>T (p.Leu425Phe) c.919C>T (p.Leu307Phe) | gnomAD v4 |
1 | g.154465253T>A | CA342628565 | IL6R | c.1280T>A (p.Leu427His) c.*88T>A (n.*88T>A) n.478T>A c.1044T>A (p.Ser348=) c.*121T>A (n.*121T>A) c.1328T>A (p.Leu443His) c.1427T>A (p.Leu476His) c.1379T>A (p.Leu460His) c.1373T>A (p.Leu458His) c.1274T>A (p.Leu425His) c.920T>A (p.Leu307His) | |
1 | g.154465253T>C | CA342628566 | IL6R | c.1280T>C (p.Leu427Pro) c.*88T>C (n.*88T>C) n.478T>C c.1044T>C (p.Ser348=) c.*121T>C (n.*121T>C) c.1328T>C (p.Leu443Pro) c.1427T>C (p.Leu476Pro) c.1379T>C (p.Leu460Pro) c.1373T>C (p.Leu458Pro) c.1274T>C (p.Leu425Pro) c.920T>C (p.Leu307Pro) | |
1 | g.154465253T>G | CA342628567 | IL6R | c.1280T>G (p.Leu427Arg) c.*88T>G (n.*88T>G) n.478T>G c.1044T>G (p.Ser348=) c.*121T>G (n.*121T>G) c.1328T>G (p.Leu443Arg) c.1427T>G (p.Leu476Arg) c.1379T>G (p.Leu460Arg) c.1373T>G (p.Leu458Arg) c.1274T>G (p.Leu425Arg) c.920T>G (p.Leu307Arg) | |
1 | g.154465254C>A | CA420975968 | IL6R | c.1281C>A (p.Leu427=) c.*89C>A (n.*89C>A) n.479C>A c.1045C>A (p.His349Asn) c.*122C>A (n.*122C>A) c.1329C>A (p.Leu443=) c.1428C>A (p.Leu476=) c.1380C>A (p.Leu460=) c.1374C>A (p.Leu458=) c.1275C>A (p.Leu425=) c.921C>A (p.Leu307=) | dbSNP |
1 | g.154465254C= | CA2480880299 | IL6R | c.1281C= (p.Leu427=) c.*89C= (n.*89C=) n.479C= c.1045C= (p.His349=) c.*122C= (n.*122C=) c.1329C= (p.Leu443=) c.1428C= (p.Leu476=) c.1380C= (p.Leu460=) c.1374C= (p.Leu458=) c.1275C= (p.Leu425=) c.921C= (p.Leu307=) | |
1 | g.154465254C>G | CA420975970 | IL6R | c.1281C>G (p.Leu427=) c.*89C>G (n.*89C>G) n.479C>G c.1045C>G (p.His349Asp) c.*122C>G (n.*122C>G) c.1329C>G (p.Leu443=) c.1428C>G (p.Leu476=) c.1380C>G (p.Leu460=) c.1374C>G (p.Leu458=) c.1275C>G (p.Leu425=) c.921C>G (p.Leu307=) | |
1 | g.154465254C>T | CA420975969 | IL6R | c.1281C>T (p.Leu427=) c.*89C>T (n.*89C>T) n.479C>T c.1045C>T (p.His349Tyr) c.*122C>T (n.*122C>T) c.1329C>T (p.Leu443=) c.1428C>T (p.Leu476=) c.1380C>T (p.Leu460=) c.1374C>T (p.Leu458=) c.1275C>T (p.Leu425=) c.921C>T (p.Leu307=) | gnomAD v4 |
1 | g.154465255A>C | CA342628568 | IL6R | c.1282A>C (p.Ile428Leu) c.*90A>C (n.*90A>C) n.480A>C c.1046A>C (p.His349Pro) c.*123A>C (n.*123A>C) c.1330A>C (p.Ile444Leu) c.1429A>C (p.Ile477Leu) c.1381A>C (p.Ile461Leu) c.1375A>C (p.Ile459Leu) c.1276A>C (p.Ile426Leu) c.922A>C (p.Ile308Leu) | |
1 | g.154465255A>G | CA342628569 | IL6R | c.1282A>G (p.Ile428Val) c.*90A>G (n.*90A>G) n.480A>G c.1046A>G (p.His349Arg) c.*123A>G (n.*123A>G) c.1330A>G (p.Ile444Val) c.1429A>G (p.Ile477Val) c.1381A>G (p.Ile461Val) c.1375A>G (p.Ile459Val) c.1276A>G (p.Ile426Val) c.922A>G (p.Ile308Val) | |
1 | g.154465255A>T | CA342628570 | IL6R | c.1282A>T (p.Ile428Phe) c.*90A>T (n.*90A>T) n.480A>T c.1046A>T (p.His349Leu) c.*123A>T (n.*123A>T) c.1330A>T (p.Ile444Phe) c.1429A>T (p.Ile477Phe) c.1381A>T (p.Ile461Phe) c.1375A>T (p.Ile459Phe) c.1276A>T (p.Ile426Phe) c.922A>T (p.Ile308Phe) | gnomAD v4 |
1 | g.154465256T>A | CA342628571 | IL6R | c.1283T>A (p.Ile428Asn) c.*91T>A (n.*91T>A) n.481T>A c.1047T>A (p.His349Gln) c.*124T>A (n.*124T>A) c.1331T>A (p.Ile444Asn) c.1430T>A (p.Ile477Asn) c.1382T>A (p.Ile461Asn) c.1376T>A (p.Ile459Asn) c.1277T>A (p.Ile426Asn) c.923T>A (p.Ile308Asn) | |
1 | g.154465256T>C | CA1129337 | IL6R | c.1283T>C (p.Ile428Thr) c.*91T>C (n.*91T>C) n.481T>C c.1047T>C (p.His349=) c.*124T>C (n.*124T>C) c.1331T>C (p.Ile444Thr) c.1430T>C (p.Ile477Thr) c.1382T>C (p.Ile461Thr) c.1376T>C (p.Ile459Thr) c.1277T>C (p.Ile426Thr) c.923T>C (p.Ile308Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154465256T>G | CA342628572 | IL6R | c.1283T>G (p.Ile428Ser) c.*91T>G (n.*91T>G) n.481T>G c.1047T>G (p.His349Gln) c.*124T>G (n.*124T>G) c.1331T>G (p.Ile444Ser) c.1430T>G (p.Ile477Ser) c.1382T>G (p.Ile461Ser) c.1376T>G (p.Ile459Ser) c.1277T>G (p.Ile426Ser) c.923T>G (p.Ile308Ser) | |
1 | g.154465256T= | CA2480880300 | IL6R | c.1283T= (p.Ile428=) c.*91T= (n.*91T=) n.481T= c.1047T= (p.His349=) c.*124T= (n.*124T=) c.1331T= (p.Ile444=) c.1430T= (p.Ile477=) c.1382T= (p.Ile461=) c.1376T= (p.Ile459=) c.1277T= (p.Ile426=) c.923T= (p.Ile308=) | |
1 | g.154465257C>A | CA420975971 | IL6R | c.1284C>A (p.Ile428=) c.*92C>A (n.*92C>A) n.482C>A c.1048C>A (p.Leu350Ile) c.*125C>A (n.*125C>A) c.1332C>A (p.Ile444=) c.1431C>A (p.Ile477=) c.1383C>A (p.Ile461=) c.1377C>A (p.Ile459=) c.1278C>A (p.Ile426=) c.924C>A (p.Ile308=) | |
1 | g.154465257C= | CA2480880301 | IL6R | c.1284C= (p.Ile428=) c.*92C= (n.*92C=) n.482C= c.1048C= (p.Leu350=) c.*125C= (n.*125C=) c.1332C= (p.Ile444=) c.1431C= (p.Ile477=) c.1383C= (p.Ile461=) c.1377C= (p.Ile459=) c.1278C= (p.Ile426=) c.924C= (p.Ile308=) | |
1 | g.154465257C>G | CA342628573 | IL6R | c.1284C>G (p.Ile428Met) c.*92C>G (n.*92C>G) n.482C>G c.1048C>G (p.Leu350Val) c.*125C>G (n.*125C>G) c.1332C>G (p.Ile444Met) c.1431C>G (p.Ile477Met) c.1383C>G (p.Ile461Met) c.1377C>G (p.Ile459Met) c.1278C>G (p.Ile426Met) c.924C>G (p.Ile308Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154465257C>T | CA420975972 | IL6R | c.1284C>T (p.Ile428=) c.*92C>T (n.*92C>T) n.482C>T c.1048C>T (p.Leu350Phe) c.*125C>T (n.*125C>T) c.1332C>T (p.Ile444=) c.1431C>T (p.Ile477=) c.1383C>T (p.Ile461=) c.1377C>T (p.Ile459=) c.1278C>T (p.Ile426=) c.924C>T (p.Ile308=) | gnomAD v4 |
1 | g.154465258T>A | CA342628576 | IL6R | c.1285T>A (p.Ser429Thr) c.*93T>A (n.*93T>A) n.483T>A c.1049T>A (p.Leu350His) c.*126T>A (n.*126T>A) c.1333T>A (p.Ser445Thr) c.1432T>A (p.Ser478Thr) c.1384T>A (p.Ser462Thr) c.1378T>A (p.Ser460Thr) c.1279T>A (p.Ser427Thr) c.925T>A (p.Ser309Thr) | |
1 | g.154465258T>C | CA342628575 | IL6R | c.1285T>C (p.Ser429Pro) c.*93T>C (n.*93T>C) n.483T>C c.1049T>C (p.Leu350Pro) c.*126T>C (n.*126T>C) c.1333T>C (p.Ser445Pro) c.1432T>C (p.Ser478Pro) c.1384T>C (p.Ser462Pro) c.1378T>C (p.Ser460Pro) c.1279T>C (p.Ser427Pro) c.925T>C (p.Ser309Pro) | |
1 | g.154465258T>G | CA342628574 | IL6R | c.1285T>G (p.Ser429Ala) c.*93T>G (n.*93T>G) n.483T>G c.1049T>G (p.Leu350Arg) c.*126T>G (n.*126T>G) c.1333T>G (p.Ser445Ala) c.1432T>G (p.Ser478Ala) c.1384T>G (p.Ser462Ala) c.1378T>G (p.Ser460Ala) c.1279T>G (p.Ser427Ala) c.925T>G (p.Ser309Ala) | |
1 | g.154465259C>A | CA342628577 | IL6R | c.1286C>A (p.Ser429Tyr) c.*94C>A (n.*94C>A) n.484C>A c.1050C>A (p.Leu350=) c.*127C>A (n.*127C>A) c.1334C>A (p.Ser445Tyr) c.1433C>A (p.Ser478Tyr) c.1385C>A (p.Ser462Tyr) c.1379C>A (p.Ser460Tyr) c.1280C>A (p.Ser427Tyr) c.926C>A (p.Ser309Tyr) | |
1 | g.154465259C>G | CA342628578 | IL6R | c.1286C>G (p.Ser429Cys) c.*94C>G (n.*94C>G) n.484C>G c.1050C>G (p.Leu350=) c.*127C>G (n.*127C>G) c.1334C>G (p.Ser445Cys) c.1433C>G (p.Ser478Cys) c.1385C>G (p.Ser462Cys) c.1379C>G (p.Ser460Cys) c.1280C>G (p.Ser427Cys) c.926C>G (p.Ser309Cys) | |
1 | g.154465259C>T | CA342628579 | IL6R | c.1286C>T (p.Ser429Phe) c.*94C>T (n.*94C>T) n.484C>T c.1050C>T (p.Leu350=) c.*127C>T (n.*127C>T) c.1334C>T (p.Ser445Phe) c.1433C>T (p.Ser478Phe) c.1385C>T (p.Ser462Phe) c.1379C>T (p.Ser460Phe) c.1280C>T (p.Ser427Phe) c.926C>T (p.Ser309Phe) | gnomAD v4 COSMIC |
1 | g.154465260C>A | CA420975973 | IL6R | c.1287C>A (p.Ser429=) c.*95C>A (n.*95C>A) n.485C>A c.1051C>A (p.Pro351Thr) c.*128C>A (n.*128C>A) c.1335C>A (p.Ser445=) c.1434C>A (p.Ser478=) c.1386C>A (p.Ser462=) c.1380C>A (p.Ser460=) c.1281C>A (p.Ser427=) c.927C>A (p.Ser309=) | |
1 | g.154465260C>G | CA420975974 | IL6R | c.1287C>G (p.Ser429=) c.*95C>G (n.*95C>G) n.485C>G c.1051C>G (p.Pro351Ala) c.*128C>G (n.*128C>G) c.1335C>G (p.Ser445=) c.1434C>G (p.Ser478=) c.1386C>G (p.Ser462=) c.1380C>G (p.Ser460=) c.1281C>G (p.Ser427=) c.927C>G (p.Ser309=) | |
1 | g.154465260C>T | CA420975975 | IL6R | c.1287C>T (p.Ser429=) c.*95C>T (n.*95C>T) n.485C>T c.1051C>T (p.Pro351Ser) c.*128C>T (n.*128C>T) c.1335C>T (p.Ser445=) c.1434C>T (p.Ser478=) c.1386C>T (p.Ser462=) c.1380C>T (p.Ser460=) c.1281C>T (p.Ser427=) c.927C>T (p.Ser309=) | |
1 | g.154465261C>A | CA342628580 | IL6R | c.1288C>A (p.Pro430Thr) c.*96C>A (n.*96C>A) n.486C>A c.1052C>A (p.Pro351His) c.*129C>A (n.*129C>A) c.1336C>A (p.Pro446Thr) c.1435C>A (p.Pro479Thr) c.1387C>A (p.Pro463Thr) c.1381C>A (p.Pro461Thr) c.1282C>A (p.Pro428Thr) c.928C>A (p.Pro310Thr) | |
1 | g.154465261C>G | CA342628581 | IL6R | c.1288C>G (p.Pro430Ala) c.*96C>G (n.*96C>G) n.486C>G c.1052C>G (p.Pro351Arg) c.*129C>G (n.*129C>G) c.1336C>G (p.Pro446Ala) c.1435C>G (p.Pro479Ala) c.1387C>G (p.Pro463Ala) c.1381C>G (p.Pro461Ala) c.1282C>G (p.Pro428Ala) c.928C>G (p.Pro310Ala) | |
1 | g.154465261C>T | CA342628582 | IL6R | c.1288C>T (p.Pro430Ser) c.*96C>T (n.*96C>T) n.486C>T c.1052C>T (p.Pro351Leu) c.*129C>T (n.*129C>T) c.1336C>T (p.Pro446Ser) c.1435C>T (p.Pro479Ser) c.1387C>T (p.Pro463Ser) c.1381C>T (p.Pro461Ser) c.1282C>T (p.Pro428Ser) c.928C>T (p.Pro310Ser) | |
1 | g.154465262C>A | CA342628583 | IL6R | c.1289C>A (p.Pro430Gln) c.*97C>A (n.*97C>A) n.487C>A c.1053C>A (p.Pro351=) c.*130C>A (n.*130C>A) c.1337C>A (p.Pro446Gln) c.1436C>A (p.Pro479Gln) c.1388C>A (p.Pro463Gln) c.1382C>A (p.Pro461Gln) c.1283C>A (p.Pro428Gln) c.929C>A (p.Pro310Gln) | |
1 | g.154465262C>G | CA342628584 | IL6R | c.1289C>G (p.Pro430Arg) c.*97C>G (n.*97C>G) n.487C>G c.1053C>G (p.Pro351=) c.*130C>G (n.*130C>G) c.1337C>G (p.Pro446Arg) c.1436C>G (p.Pro479Arg) c.1388C>G (p.Pro463Arg) c.1382C>G (p.Pro461Arg) c.1283C>G (p.Pro428Arg) c.929C>G (p.Pro310Arg) | |
1 | g.154465262C>T | CA342628585 | IL6R | c.1289C>T (p.Pro430Leu) c.*97C>T (n.*97C>T) n.487C>T c.1053C>T (p.Pro351=) c.*130C>T (n.*130C>T) c.1337C>T (p.Pro446Leu) c.1436C>T (p.Pro479Leu) c.1388C>T (p.Pro463Leu) c.1382C>T (p.Pro461Leu) c.1283C>T (p.Pro428Leu) c.929C>T (p.Pro310Leu) | |
1 | g.154465263A>C | CA420975976 | IL6R | c.1290A>C (p.Pro430=) c.*98A>C (n.*98A>C) n.488A>C c.1054A>C (p.Thr352Pro) c.*131A>C (n.*131A>C) c.1338A>C (p.Pro446=) c.1437A>C (p.Pro479=) c.1389A>C (p.Pro463=) c.1383A>C (p.Pro461=) c.1284A>C (p.Pro428=) c.930A>C (p.Pro310=) | |
1 | g.154465263A>G | CA420975977 | IL6R | c.1290A>G (p.Pro430=) c.*98A>G (n.*98A>G) n.488A>G c.1054A>G (p.Thr352Ala) c.*131A>G (n.*131A>G) c.1338A>G (p.Pro446=) c.1437A>G (p.Pro479=) c.1389A>G (p.Pro463=) c.1383A>G (p.Pro461=) c.1284A>G (p.Pro428=) c.930A>G (p.Pro310=) | |
1 | g.154465263A>T | CA420975978 | IL6R | c.1290A>T (p.Pro430=) c.*98A>T (n.*98A>T) n.488A>T c.1054A>T (p.Thr352Ser) c.*131A>T (n.*131A>T) c.1338A>T (p.Pro446=) c.1437A>T (p.Pro479=) c.1389A>T (p.Pro463=) c.1383A>T (p.Pro461=) c.1284A>T (p.Pro428=) c.930A>T (p.Pro310=) | |
1 | g.154465263_154465273delinsACCGGTGTCCC | CA2480880302 | IL6R | c.1290_1300delinsACCGGTGTCCC (p.Pro430=) c.*98_*108delinsACCGGTGTCCC (n.*98_*108delinsACCGGTGTCCC) n.488_498delinsACCGGTGTCCC c.1054_1064delinsACCGGTGTCCC (p.Thr352=) c.*131_*141delinsACCGGTGTCCC (n.*131_*141delinsACCGGTGTCCC) c.1338_1348delinsACCGGTGTCCC (p.Pro446=) c.1437_1447delinsACCGGTGTCCC (p.Pro479=) c.1389_1399delinsACCGGTGTCCC (p.Pro463=) c.1383_1393delinsACCGGTGTCCC (p.Pro461=) c.1284_1294delinsACCGGTGTCCC (p.Pro428=) c.930_940delinsACCGGTGTCCC (p.Pro310=) | |
1 | g.154465264C>A | CA342628586 | IL6R | c.1291C>A (p.Pro431Thr) c.*99C>A (n.*99C>A) n.489C>A c.1055C>A (p.Thr352Asn) c.*132C>A (n.*132C>A) c.1339C>A (p.Pro447Thr) c.1438C>A (p.Pro480Thr) c.1390C>A (p.Pro464Thr) c.1384C>A (p.Pro462Thr) c.1285C>A (p.Pro429Thr) c.931C>A (p.Pro311Thr) | |
1 | g.154465264C= | CA2480880303 | IL6R | c.1291C= (p.Pro431=) c.*99C= (n.*99C=) n.489C= c.1055C= (p.Thr352=) c.*132C= (n.*132C=) c.1339C= (p.Pro447=) c.1438C= (p.Pro480=) c.1390C= (p.Pro464=) c.1384C= (p.Pro462=) c.1285C= (p.Pro429=) c.931C= (p.Pro311=) | |
1 | g.154465264C>G | CA342628587 | IL6R | c.1291C>G (p.Pro431Ala) c.*99C>G (n.*99C>G) n.489C>G c.1055C>G (p.Thr352Ser) c.*132C>G (n.*132C>G) c.1339C>G (p.Pro447Ala) c.1438C>G (p.Pro480Ala) c.1390C>G (p.Pro464Ala) c.1384C>G (p.Pro462Ala) c.1285C>G (p.Pro429Ala) c.931C>G (p.Pro311Ala) | |
1 | g.154465264C>T | CA342628588 | IL6R | c.1291C>T (p.Pro431Ser) c.*99C>T (n.*99C>T) n.489C>T c.1055C>T (p.Thr352Ile) c.*132C>T (n.*132C>T) c.1339C>T (p.Pro447Ser) c.1438C>T (p.Pro480Ser) c.1390C>T (p.Pro464Ser) c.1384C>T (p.Pro462Ser) c.1285C>T (p.Pro429Ser) c.931C>T (p.Pro311Ser) | ClinVar dbSNP |
1 | g.154465266_154465275del | CA1129338 | IL6R | c.1293_1302del (p.Val432AlafsTer?) c.*101_*110del (n.*101_*110del) n.491_500del c.1057_1066del (p.Gly353SerfsTer?) c.*134_*143del (n.*134_*143del) c.1341_1350del (p.Val448AlafsTer?) c.1440_1449del (p.Val481AlafsTer?) c.1392_1401del (p.Val465AlafsTer?) c.1386_1395del (p.Val463AlafsTer?) c.1287_1296del (p.Val430AlafsTer?) c.933_942del (p.Val312AlafsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154465265C>A | CA342628589 | IL6R | c.1292C>A (p.Pro431Gln) c.*100C>A (n.*100C>A) n.490C>A c.1056C>A (p.Thr352=) c.*133C>A (n.*133C>A) c.1340C>A (p.Pro447Gln) c.1439C>A (p.Pro480Gln) c.1391C>A (p.Pro464Gln) c.1385C>A (p.Pro462Gln) c.1286C>A (p.Pro429Gln) c.932C>A (p.Pro311Gln) | |
1 | g.154465265C= | CA1143366893 | IL6R | c.1292C= (p.Pro431=) c.*100C= (n.*100C=) n.490C= c.1056C= (p.Thr352=) c.*133C= (n.*133C=) c.1340C= (p.Pro447=) c.1439C= (p.Pro480=) c.1391C= (p.Pro464=) c.1385C= (p.Pro462=) c.1286C= (p.Pro429=) c.932C= (p.Pro311=) | |
1 | g.154465265C>G | CA342628590 | IL6R | c.1292C>G (p.Pro431Arg) c.*100C>G (n.*100C>G) n.490C>G c.1056C>G (p.Thr352=) c.*133C>G (n.*133C>G) c.1340C>G (p.Pro447Arg) c.1439C>G (p.Pro480Arg) c.1391C>G (p.Pro464Arg) c.1385C>G (p.Pro462Arg) c.1286C>G (p.Pro429Arg) c.932C>G (p.Pro311Arg) | dbSNP |
1 | g.154465265C>T | CA1129339 | IL6R | c.1292C>T (p.Pro431Leu) c.*100C>T (n.*100C>T) n.490C>T c.1056C>T (p.Thr352=) c.*133C>T (n.*133C>T) c.1340C>T (p.Pro447Leu) c.1439C>T (p.Pro480Leu) c.1391C>T (p.Pro464Leu) c.1385C>T (p.Pro462Leu) c.1286C>T (p.Pro429Leu) c.932C>T (p.Pro311Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465266G>A | CA30816507 | IL6R | c.1293G>A (p.Pro431=) c.*101G>A (n.*101G>A) n.491G>A c.1057G>A (p.Gly353Ser) c.*134G>A (n.*134G>A) c.1341G>A (p.Pro447=) c.1440G>A (p.Pro480=) c.1392G>A (p.Pro464=) c.1386G>A (p.Pro462=) c.1287G>A (p.Pro429=) c.933G>A (p.Pro311=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465266G>C | CA420975980 | IL6R | c.1293G>C (p.Pro431=) c.*101G>C (n.*101G>C) n.491G>C c.1057G>C (p.Gly353Arg) c.*134G>C (n.*134G>C) c.1341G>C (p.Pro447=) c.1440G>C (p.Pro480=) c.1392G>C (p.Pro464=) c.1386G>C (p.Pro462=) c.1287G>C (p.Pro429=) c.933G>C (p.Pro311=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154465266G= | CA2480880304 | IL6R | c.1293G= (p.Pro431=) c.*101G= (n.*101G=) n.491G= c.1057G= (p.Gly353=) c.*134G= (n.*134G=) c.1341G= (p.Pro447=) c.1440G= (p.Pro480=) c.1392G= (p.Pro464=) c.1386G= (p.Pro462=) c.1287G= (p.Pro429=) c.933G= (p.Pro311=) | |
1 | g.154465266G>T | CA420975979 | IL6R | c.1293G>T (p.Pro431=) c.*101G>T (n.*101G>T) n.491G>T c.1057G>T (p.Gly353Cys) c.*134G>T (n.*134G>T) c.1341G>T (p.Pro447=) c.1440G>T (p.Pro480=) c.1392G>T (p.Pro464=) c.1386G>T (p.Pro462=) c.1287G>T (p.Pro429=) c.933G>T (p.Pro311=) | |
1 | g.154465267G>A | CA342628592 | IL6R | c.1294G>A (p.Val432Met) c.*102G>A (n.*102G>A) n.492G>A c.1058G>A (p.Gly353Asp) c.*135G>A (n.*135G>A) c.1342G>A (p.Val448Met) c.1441G>A (p.Val481Met) c.1393G>A (p.Val465Met) c.1387G>A (p.Val463Met) c.1288G>A (p.Val430Met) c.934G>A (p.Val312Met) | |
1 | g.154465267G>C | CA342628591 | IL6R | c.1294G>C (p.Val432Leu) c.*102G>C (n.*102G>C) n.492G>C c.1058G>C (p.Gly353Ala) c.*135G>C (n.*135G>C) c.1342G>C (p.Val448Leu) c.1441G>C (p.Val481Leu) c.1393G>C (p.Val465Leu) c.1387G>C (p.Val463Leu) c.1288G>C (p.Val430Leu) c.934G>C (p.Val312Leu) | dbSNP |
1 | g.154465267G= | CA2480880305 | IL6R | c.1294G= (p.Val432=) c.*102G= (n.*102G=) n.492G= c.1058G= (p.Gly353=) c.*135G= (n.*135G=) c.1342G= (p.Val448=) c.1441G= (p.Val481=) c.1393G= (p.Val465=) c.1387G= (p.Val463=) c.1288G= (p.Val430=) c.934G= (p.Val312=) | |
1 | g.154465267G>T | CA342628593 | IL6R | c.1294G>T (p.Val432Leu) c.*102G>T (n.*102G>T) n.492G>T c.1058G>T (p.Gly353Val) c.*135G>T (n.*135G>T) c.1342G>T (p.Val448Leu) c.1441G>T (p.Val481Leu) c.1393G>T (p.Val465Leu) c.1387G>T (p.Val463Leu) c.1288G>T (p.Val430Leu) c.934G>T (p.Val312Leu) | |
1 | g.154465268T>A | CA342628594 | IL6R | c.1295T>A (p.Val432Glu) c.*103T>A (n.*103T>A) n.493T>A c.1059T>A (p.Gly353=) c.*136T>A (n.*136T>A) c.1343T>A (p.Val448Glu) c.1442T>A (p.Val481Glu) c.1394T>A (p.Val465Glu) c.1388T>A (p.Val463Glu) c.1289T>A (p.Val430Glu) c.935T>A (p.Val312Glu) | |
1 | g.154465268T>C | CA1129340 | IL6R | c.1295T>C (p.Val432Ala) c.*103T>C (n.*103T>C) n.493T>C c.1059T>C (p.Gly353=) c.*136T>C (n.*136T>C) c.1343T>C (p.Val448Ala) c.1442T>C (p.Val481Ala) c.1394T>C (p.Val465Ala) c.1388T>C (p.Val463Ala) c.1289T>C (p.Val430Ala) c.935T>C (p.Val312Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154465268T>G | CA342628595 | IL6R | c.1295T>G (p.Val432Gly) c.*103T>G (n.*103T>G) n.493T>G c.1059T>G (p.Gly353=) c.*136T>G (n.*136T>G) c.1343T>G (p.Val448Gly) c.1442T>G (p.Val481Gly) c.1394T>G (p.Val465Gly) c.1388T>G (p.Val463Gly) c.1289T>G (p.Val430Gly) c.935T>G (p.Val312Gly) | |
1 | g.154465268T= | CA2480880306 | IL6R | c.1295T= (p.Val432=) c.*103T= (n.*103T=) n.493T= c.1059T= (p.Gly353=) c.*136T= (n.*136T=) c.1343T= (p.Val448=) c.1442T= (p.Val481=) c.1394T= (p.Val465=) c.1388T= (p.Val463=) c.1289T= (p.Val430=) c.935T= (p.Val312=) | |
1 | g.154465269G>A | CA420975982 | IL6R | c.1296G>A (p.Val432=) c.*104G>A (n.*104G>A) n.494G>A c.1060G>A (p.Val354Ile) c.*137G>A (n.*137G>A) c.1344G>A (p.Val448=) c.1443G>A (p.Val481=) c.1395G>A (p.Val465=) c.1389G>A (p.Val463=) c.1290G>A (p.Val430=) c.936G>A (p.Val312=) | gnomAD v4 |
1 | g.154465269G>C | CA420975983 | IL6R | c.1296G>C (p.Val432=) c.*104G>C (n.*104G>C) n.494G>C c.1060G>C (p.Val354Leu) c.*137G>C (n.*137G>C) c.1344G>C (p.Val448=) c.1443G>C (p.Val481=) c.1395G>C (p.Val465=) c.1389G>C (p.Val463=) c.1290G>C (p.Val430=) c.936G>C (p.Val312=) | |
1 | g.154465269G>T | CA420975984 | IL6R | c.1296G>T (p.Val432=) c.*104G>T (n.*104G>T) n.494G>T c.1060G>T (p.Val354Phe) c.*137G>T (n.*137G>T) c.1344G>T (p.Val448=) c.1443G>T (p.Val481=) c.1395G>T (p.Val465=) c.1389G>T (p.Val463=) c.1290G>T (p.Val430=) c.936G>T (p.Val312=) | gnomAD v4 |
1 | g.154465270T>A | CA342628596 | IL6R | c.1297T>A (p.Ser433Thr) c.*105T>A (n.*105T>A) n.495T>A c.1061T>A (p.Val354Asp) c.*138T>A (n.*138T>A) c.1345T>A (p.Ser449Thr) c.1444T>A (p.Ser482Thr) c.1396T>A (p.Ser466Thr) c.1390T>A (p.Ser464Thr) c.1291T>A (p.Ser431Thr) c.937T>A (p.Ser313Thr) | |
1 | g.154465270T>C | CA30816512 | IL6R | c.1297T>C (p.Ser433Pro) c.*105T>C (n.*105T>C) n.495T>C c.1061T>C (p.Val354Ala) c.*138T>C (n.*138T>C) c.1345T>C (p.Ser449Pro) c.1444T>C (p.Ser482Pro) c.1396T>C (p.Ser466Pro) c.1390T>C (p.Ser464Pro) c.1291T>C (p.Ser431Pro) c.937T>C (p.Ser313Pro) | dbSNP gnomAD v4 |
1 | g.154465270T>G | CA342628597 | IL6R | c.1297T>G (p.Ser433Ala) c.*105T>G (n.*105T>G) n.495T>G c.1061T>G (p.Val354Gly) c.*138T>G (n.*138T>G) c.1345T>G (p.Ser449Ala) c.1444T>G (p.Ser482Ala) c.1396T>G (p.Ser466Ala) c.1390T>G (p.Ser464Ala) c.1291T>G (p.Ser431Ala) c.937T>G (p.Ser313Ala) | |
1 | g.154465270T= | CA2480880308 | IL6R | c.1297T= (p.Ser433=) c.*105T= (n.*105T=) n.495T= c.1061T= (p.Val354=) c.*138T= (n.*138T=) c.1345T= (p.Ser449=) c.1444T= (p.Ser482=) c.1396T= (p.Ser466=) c.1390T= (p.Ser464=) c.1291T= (p.Ser431=) c.937T= (p.Ser313=) | |
1 | g.154465270_154465271delinsTC | CA2480880307 | IL6R | c.1297_1298delinsTC (p.Ser433=) c.*105_*106delinsTC (n.*105_*106delinsTC) n.495_496delinsTC c.1061_1062delinsTC (p.Val354=) c.*138_*139delinsTC (n.*138_*139delinsTC) c.1345_1346delinsTC (p.Ser449=) c.1444_1445delinsTC (p.Ser482=) c.1396_1397delinsTC (p.Ser466=) c.1390_1391delinsTC (p.Ser464=) c.1291_1292delinsTC (p.Ser431=) c.937_938delinsTC (p.Ser313=) | |
1 | g.154465271C>A | CA342628598 | IL6R | c.1298C>A (p.Ser433Tyr) c.*106C>A (n.*106C>A) n.496C>A c.1062C>A (p.Val354=) c.*139C>A (n.*139C>A) c.1346C>A (p.Ser449Tyr) c.1445C>A (p.Ser482Tyr) c.1397C>A (p.Ser466Tyr) c.1391C>A (p.Ser464Tyr) c.1292C>A (p.Ser431Tyr) c.938C>A (p.Ser313Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.154465271C= | CA2480880309 | IL6R | c.1298C= (p.Ser433=) c.*106C= (n.*106C=) n.496C= c.1062C= (p.Val354=) c.*139C= (n.*139C=) c.1346C= (p.Ser449=) c.1445C= (p.Ser482=) c.1397C= (p.Ser466=) c.1391C= (p.Ser464=) c.1292C= (p.Ser431=) c.938C= (p.Ser313=) | |
1 | g.154465271C>G | CA342628599 | IL6R | c.1298C>G (p.Ser433Cys) c.*106C>G (n.*106C>G) n.496C>G c.1062C>G (p.Val354=) c.*139C>G (n.*139C>G) c.1346C>G (p.Ser449Cys) c.1445C>G (p.Ser482Cys) c.1397C>G (p.Ser466Cys) c.1391C>G (p.Ser464Cys) c.1292C>G (p.Ser431Cys) c.938C>G (p.Ser313Cys) | |
1 | g.154465271C>T | CA342628600 | IL6R | c.1298C>T (p.Ser433Phe) c.*106C>T (n.*106C>T) n.496C>T c.1062C>T (p.Val354=) c.*139C>T (n.*139C>T) c.1346C>T (p.Ser449Phe) c.1445C>T (p.Ser482Phe) c.1397C>T (p.Ser466Phe) c.1391C>T (p.Ser464Phe) c.1292C>T (p.Ser431Phe) c.938C>T (p.Ser313Phe) | dbSNP gnomAD v4 |
1 | g.154465275del | CA1129341 | IL6R | c.1302del (p.Ser435AlafsTer?) c.*110del (n.*110del) n.500del c.1066del (p.Gln356SerfsTer?) c.*143del (n.*143del) c.1350del (p.Ser451AlafsTer?) c.1449del (p.Ser484AlafsTer?) c.1401del (p.Ser468AlafsTer?) c.1395del (p.Ser466AlafsTer?) c.1296del (p.Ser433AlafsTer?) c.942del (p.Ser315AlafsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465272C>A | CA420975987 | IL6R | c.1299C>A (p.Ser433=) c.*107C>A (n.*107C>A) n.497C>A c.1063C>A (p.Pro355Thr) c.*140C>A (n.*140C>A) c.1347C>A (p.Ser449=) c.1446C>A (p.Ser482=) c.1398C>A (p.Ser466=) c.1392C>A (p.Ser464=) c.1293C>A (p.Ser431=) c.939C>A (p.Ser313=) | |
1 | g.154465272C= | CA2480880310 | IL6R | c.1299C= (p.Ser433=) c.*107C= (n.*107C=) n.497C= c.1063C= (p.Pro355=) c.*140C= (n.*140C=) c.1347C= (p.Ser449=) c.1446C= (p.Ser482=) c.1398C= (p.Ser466=) c.1392C= (p.Ser464=) c.1293C= (p.Ser431=) c.939C= (p.Ser313=) | |
1 | g.154465272C>G | CA420975985 | IL6R | c.1299C>G (p.Ser433=) c.*107C>G (n.*107C>G) n.497C>G c.1063C>G (p.Pro355Ala) c.*140C>G (n.*140C>G) c.1347C>G (p.Ser449=) c.1446C>G (p.Ser482=) c.1398C>G (p.Ser466=) c.1392C>G (p.Ser464=) c.1293C>G (p.Ser431=) c.939C>G (p.Ser313=) | |
1 | g.154465272C>T | CA420975986 | IL6R | c.1299C>T (p.Ser433=) c.*107C>T (n.*107C>T) n.497C>T c.1063C>T (p.Pro355Ser) c.*140C>T (n.*140C>T) c.1347C>T (p.Ser449=) c.1446C>T (p.Ser482=) c.1398C>T (p.Ser466=) c.1392C>T (p.Ser464=) c.1293C>T (p.Ser431=) c.939C>T (p.Ser313=) | ClinVar dbSNP gnomAD v4 |
1 | g.154465273C>A | CA342628601 | IL6R | c.1300C>A (p.Pro434Thr) c.*108C>A (n.*108C>A) n.498C>A c.1064C>A (p.Pro355His) c.*141C>A (n.*141C>A) c.1348C>A (p.Pro450Thr) c.1447C>A (p.Pro483Thr) c.1399C>A (p.Pro467Thr) c.1393C>A (p.Pro465Thr) c.1294C>A (p.Pro432Thr) c.940C>A (p.Pro314Thr) | |
1 | g.154465273C= | CA1142341921 | IL6R | c.1300C= (p.Pro434=) c.*108C= (n.*108C=) n.498C= c.1064C= (p.Pro355=) c.*141C= (n.*141C=) c.1348C= (p.Pro450=) c.1447C= (p.Pro483=) c.1399C= (p.Pro467=) c.1393C= (p.Pro465=) c.1294C= (p.Pro432=) c.940C= (p.Pro314=) | |
1 | g.154465273C>G | CA342628602 | IL6R | c.1300C>G (p.Pro434Ala) c.*108C>G (n.*108C>G) n.498C>G c.1064C>G (p.Pro355Arg) c.*141C>G (n.*141C>G) c.1348C>G (p.Pro450Ala) c.1447C>G (p.Pro483Ala) c.1399C>G (p.Pro467Ala) c.1393C>G (p.Pro465Ala) c.1294C>G (p.Pro432Ala) c.940C>G (p.Pro314Ala) | |
1 | g.154465273C>T | CA1129342 | IL6R | c.1300C>T (p.Pro434Ser) c.*108C>T (n.*108C>T) n.498C>T c.1064C>T (p.Pro355Leu) c.*141C>T (n.*141C>T) c.1348C>T (p.Pro450Ser) c.1447C>T (p.Pro483Ser) c.1399C>T (p.Pro467Ser) c.1393C>T (p.Pro465Ser) c.1294C>T (p.Pro432Ser) c.940C>T (p.Pro314Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154465274C>A | CA342628605 | IL6R | c.1301C>A (p.Pro434His) c.*109C>A (n.*109C>A) n.499C>A c.1065C>A (p.Pro355=) c.*142C>A (n.*142C>A) c.1349C>A (p.Pro450His) c.1448C>A (p.Pro483His) c.1400C>A (p.Pro467His) c.1394C>A (p.Pro465His) c.1295C>A (p.Pro432His) c.941C>A (p.Pro314His) | |
1 | g.154465274C>G | CA342628604 | IL6R | c.1301C>G (p.Pro434Arg) c.*109C>G (n.*109C>G) n.499C>G c.1065C>G (p.Pro355=) c.*142C>G (n.*142C>G) c.1349C>G (p.Pro450Arg) c.1448C>G (p.Pro483Arg) c.1400C>G (p.Pro467Arg) c.1394C>G (p.Pro465Arg) c.1295C>G (p.Pro432Arg) c.941C>G (p.Pro314Arg) | gnomAD v4 |
1 | g.154465274C>T | CA342628603 | IL6R | c.1301C>T (p.Pro434Leu) c.*109C>T (n.*109C>T) n.499C>T c.1065C>T (p.Pro355=) c.*142C>T (n.*142C>T) c.1349C>T (p.Pro450Leu) c.1448C>T (p.Pro483Leu) c.1400C>T (p.Pro467Leu) c.1394C>T (p.Pro465Leu) c.1295C>T (p.Pro432Leu) c.941C>T (p.Pro314Leu) | |
1 | g.154465275C>A | CA420975988 | IL6R | c.1302C>A (p.Pro434=) c.*110C>A (n.*110C>A) n.500C>A c.1066C>A (p.Gln356Lys) c.*143C>A (n.*143C>A) c.1350C>A (p.Pro450=) c.1449C>A (p.Pro483=) c.1401C>A (p.Pro467=) c.1395C>A (p.Pro465=) c.1296C>A (p.Pro432=) c.942C>A (p.Pro314=) | |
1 | g.154465275C>G | CA420975989 | IL6R | c.1302C>G (p.Pro434=) c.*110C>G (n.*110C>G) n.500C>G c.1066C>G (p.Gln356Glu) c.*143C>G (n.*143C>G) c.1350C>G (p.Pro450=) c.1449C>G (p.Pro483=) c.1401C>G (p.Pro467=) c.1395C>G (p.Pro465=) c.1296C>G (p.Pro432=) c.942C>G (p.Pro314=) | |
1 | g.154465275C>T | CA420975990 | IL6R | c.1302C>T (p.Pro434=) c.*110C>T (n.*110C>T) n.500C>T c.1066C>T (p.Gln356Ter) c.*143C>T (n.*143C>T) c.1350C>T (p.Pro450=) c.1449C>T (p.Pro483=) c.1401C>T (p.Pro467=) c.1395C>T (p.Pro465=) c.1296C>T (p.Pro432=) c.942C>T (p.Pro314=) | |
1 | g.154465276A= | CA2480880311 | IL6R | c.1303A= (p.Ser435=) c.*111A= (n.*111A=) n.501A= c.1067A= (p.Gln356=) c.*144A= (n.*144A=) c.1351A= (p.Ser451=) c.1450A= (p.Ser484=) c.1402A= (p.Ser468=) c.1396A= (p.Ser466=) c.1297A= (p.Ser433=) c.943A= (p.Ser315=) | |
1 | g.154465276A>C | CA342628606 | IL6R | c.1303A>C (p.Ser435Arg) c.*111A>C (n.*111A>C) n.501A>C c.1067A>C (p.Gln356Pro) c.*144A>C (n.*144A>C) c.1351A>C (p.Ser451Arg) c.1450A>C (p.Ser484Arg) c.1402A>C (p.Ser468Arg) c.1396A>C (p.Ser466Arg) c.1297A>C (p.Ser433Arg) c.943A>C (p.Ser315Arg) | |
1 | g.154465276A>G | CA1129343 | IL6R | c.1303A>G (p.Ser435Gly) c.*111A>G (n.*111A>G) n.501A>G c.1067A>G (p.Gln356Arg) c.*144A>G (n.*144A>G) c.1351A>G (p.Ser451Gly) c.1450A>G (p.Ser484Gly) c.1402A>G (p.Ser468Gly) c.1396A>G (p.Ser466Gly) c.1297A>G (p.Ser433Gly) c.943A>G (p.Ser315Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154465276A>T | CA342628607 | IL6R | c.1303A>T (p.Ser435Cys) c.*111A>T (n.*111A>T) n.501A>T c.1067A>T (p.Gln356Leu) c.*144A>T (n.*144A>T) c.1351A>T (p.Ser451Cys) c.1450A>T (p.Ser484Cys) c.1402A>T (p.Ser468Cys) c.1396A>T (p.Ser466Cys) c.1297A>T (p.Ser433Cys) c.943A>T (p.Ser315Cys) | |
1 | g.154465276dup | CA2573909516 | IL6R | c.1303dup (p.Ser435LysfsTer6) c.*111dup (n.*111dup) n.501dup c.1067dup (p.Gln357AlafsTer?) c.*144dup (n.*144dup) c.1351dup (p.Ser451LysfsTer6) c.1450dup (p.Ser484LysfsTer6) c.1402dup (p.Ser468LysfsTer6) c.1396dup (p.Ser466LysfsTer6) c.1297dup (p.Ser433LysfsTer6) c.943dup (p.Ser315LysfsTer6) | |
1 | g.154465277G>A | CA342628608 | IL6R | c.1304G>A (p.Ser435Asn) c.*112G>A (n.*112G>A) n.502G>A c.1068G>A (p.Gln356=) c.*145G>A (n.*145G>A) c.1352G>A (p.Ser451Asn) c.1451G>A (p.Ser484Asn) c.1403G>A (p.Ser468Asn) c.1397G>A (p.Ser466Asn) c.1298G>A (p.Ser433Asn) c.944G>A (p.Ser315Asn) | |
1 | g.154465277G>C | CA342628609 | IL6R | c.1304G>C (p.Ser435Thr) c.*112G>C (n.*112G>C) n.502G>C c.1068G>C (p.Gln356His) c.*145G>C (n.*145G>C) c.1352G>C (p.Ser451Thr) c.1451G>C (p.Ser484Thr) c.1403G>C (p.Ser468Thr) c.1397G>C (p.Ser466Thr) c.1298G>C (p.Ser433Thr) c.944G>C (p.Ser315Thr) | |
1 | g.154465277G>T | CA342628610 | IL6R | c.1304G>T (p.Ser435Ile) c.*112G>T (n.*112G>T) n.502G>T c.1068G>T (p.Gln356His) c.*145G>T (n.*145G>T) c.1352G>T (p.Ser451Ile) c.1451G>T (p.Ser484Ile) c.1403G>T (p.Ser468Ile) c.1397G>T (p.Ser466Ile) c.1298G>T (p.Ser433Ile) c.944G>T (p.Ser315Ile) | |
1 | g.154465278C>A | CA342628611 | IL6R | c.1305C>A (p.Ser435Arg) c.*113C>A (n.*113C>A) n.503C>A c.1069C>A (p.Gln357Lys) c.*146C>A (n.*146C>A) c.1353C>A (p.Ser451Arg) c.1452C>A (p.Ser484Arg) c.1404C>A (p.Ser468Arg) c.1398C>A (p.Ser466Arg) c.1299C>A (p.Ser433Arg) c.945C>A (p.Ser315Arg) | |
1 | g.154465278C= | CA2480880312 | IL6R | c.1305C= (p.Ser435=) c.*113C= (n.*113C=) n.503C= c.1069C= (p.Gln357=) c.*146C= (n.*146C=) c.1353C= (p.Ser451=) c.1452C= (p.Ser484=) c.1404C= (p.Ser468=) c.1398C= (p.Ser466=) c.1299C= (p.Ser433=) c.945C= (p.Ser315=) | |
1 | g.154465278C>G | CA342628612 | IL6R | c.1305C>G (p.Ser435Arg) c.*113C>G (n.*113C>G) n.503C>G c.1069C>G (p.Gln357Glu) c.*146C>G (n.*146C>G) c.1353C>G (p.Ser451Arg) c.1452C>G (p.Ser484Arg) c.1404C>G (p.Ser468Arg) c.1398C>G (p.Ser466Arg) c.1299C>G (p.Ser433Arg) c.945C>G (p.Ser315Arg) | |
1 | g.154465278C>T | CA1129344 | IL6R | c.1305C>T (p.Ser435=) c.*113C>T (n.*113C>T) n.503C>T c.1069C>T (p.Gln357Ter) c.*146C>T (n.*146C>T) c.1353C>T (p.Ser451=) c.1452C>T (p.Ser484=) c.1404C>T (p.Ser468=) c.1398C>T (p.Ser466=) c.1299C>T (p.Ser433=) c.945C>T (p.Ser315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465279A>C | CA342628613 | IL6R | c.1306A>C (p.Ser436Arg) c.*114A>C (n.*114A>C) n.504A>C c.1070A>C (p.Gln357Pro) c.*147A>C (n.*147A>C) c.1354A>C (p.Ser452Arg) c.1453A>C (p.Ser485Arg) c.1405A>C (p.Ser469Arg) c.1399A>C (p.Ser467Arg) c.1300A>C (p.Ser434Arg) c.946A>C (p.Ser316Arg) | |
1 | g.154465279A>G | CA342628614 | IL6R | c.1306A>G (p.Ser436Gly) c.*114A>G (n.*114A>G) n.504A>G c.1070A>G (p.Gln357Arg) c.*147A>G (n.*147A>G) c.1354A>G (p.Ser452Gly) c.1453A>G (p.Ser485Gly) c.1405A>G (p.Ser469Gly) c.1399A>G (p.Ser467Gly) c.1300A>G (p.Ser434Gly) c.946A>G (p.Ser316Gly) | |
1 | g.154465279A>T | CA342628615 | IL6R | c.1306A>T (p.Ser436Cys) c.*114A>T (n.*114A>T) n.504A>T c.1070A>T (p.Gln357Leu) c.*147A>T (n.*147A>T) c.1354A>T (p.Ser452Cys) c.1453A>T (p.Ser485Cys) c.1405A>T (p.Ser469Cys) c.1399A>T (p.Ser467Cys) c.1300A>T (p.Ser434Cys) c.946A>T (p.Ser316Cys) | |
1 | g.154465280G>A | CA342628617 | IL6R | c.1307G>A (p.Ser436Asn) c.*115G>A (n.*115G>A) n.505G>A c.1071G>A (p.Gln357=) c.*148G>A (n.*148G>A) c.1355G>A (p.Ser452Asn) c.1454G>A (p.Ser485Asn) c.1406G>A (p.Ser469Asn) c.1400G>A (p.Ser467Asn) c.1301G>A (p.Ser434Asn) c.947G>A (p.Ser316Asn) | |
1 | g.154465280G>C | CA342628618 | IL6R | c.1307G>C (p.Ser436Thr) c.*115G>C (n.*115G>C) n.505G>C c.1071G>C (p.Gln357His) c.*148G>C (n.*148G>C) c.1355G>C (p.Ser452Thr) c.1454G>C (p.Ser485Thr) c.1406G>C (p.Ser469Thr) c.1400G>C (p.Ser467Thr) c.1301G>C (p.Ser434Thr) c.947G>C (p.Ser316Thr) | gnomAD v4 |
1 | g.154465280G>T | CA342628616 | IL6R | c.1307G>T (p.Ser436Ile) c.*115G>T (n.*115G>T) n.505G>T c.1071G>T (p.Gln357His) c.*148G>T (n.*148G>T) c.1355G>T (p.Ser452Ile) c.1454G>T (p.Ser485Ile) c.1406G>T (p.Ser469Ile) c.1400G>T (p.Ser467Ile) c.1301G>T (p.Ser434Ile) c.947G>T (p.Ser316Ile) | |
1 | g.154465281C>A | CA342628619 | IL6R | c.1308C>A (p.Ser436Arg) c.*116C>A (n.*116C>A) n.506C>A c.1072C>A (p.Pro358Thr) c.*149C>A (n.*149C>A) c.1356C>A (p.Ser452Arg) c.1455C>A (p.Ser485Arg) c.1407C>A (p.Ser469Arg) c.1401C>A (p.Ser467Arg) c.1302C>A (p.Ser434Arg) c.948C>A (p.Ser316Arg) | |
1 | g.154465281C= | CA1147508469 | IL6R | c.1308C= (p.Ser436=) c.*116C= (n.*116C=) n.506C= c.1072C= (p.Pro358=) c.*149C= (n.*149C=) c.1356C= (p.Ser452=) c.1455C= (p.Ser485=) c.1407C= (p.Ser469=) c.1401C= (p.Ser467=) c.1302C= (p.Ser434=) c.948C= (p.Ser316=) | |
1 | g.154465281C>G | CA342628620 | IL6R | c.1308C>G (p.Ser436Arg) c.*116C>G (n.*116C>G) n.506C>G c.1072C>G (p.Pro358Ala) c.*149C>G (n.*149C>G) c.1356C>G (p.Ser452Arg) c.1455C>G (p.Ser485Arg) c.1407C>G (p.Ser469Arg) c.1401C>G (p.Ser467Arg) c.1302C>G (p.Ser434Arg) c.948C>G (p.Ser316Arg) | |
1 | g.154465281C>T | CA1129345 | IL6R | c.1308C>T (p.Ser436=) c.*116C>T (n.*116C>T) n.506C>T c.1072C>T (p.Pro358Ser) c.*149C>T (n.*149C>T) c.1356C>T (p.Ser452=) c.1455C>T (p.Ser485=) c.1407C>T (p.Ser469=) c.1401C>T (p.Ser467=) c.1302C>T (p.Ser434=) c.948C>T (p.Ser316=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465282C>A | CA342628621 | IL6R | c.1309C>A (p.Leu437Met) c.*117C>A (n.*117C>A) n.507C>A c.1073C>A (p.Pro358His) c.*150C>A (n.*150C>A) c.1357C>A (p.Leu453Met) c.1456C>A (p.Leu486Met) c.1408C>A (p.Leu470Met) c.1402C>A (p.Leu468Met) c.1303C>A (p.Leu435Met) c.949C>A (p.Leu317Met) | |
1 | g.154465282C>G | CA342628622 | IL6R | c.1309C>G (p.Leu437Val) c.*117C>G (n.*117C>G) n.507C>G c.1073C>G (p.Pro358Arg) c.*150C>G (n.*150C>G) c.1357C>G (p.Leu453Val) c.1456C>G (p.Leu486Val) c.1408C>G (p.Leu470Val) c.1402C>G (p.Leu468Val) c.1303C>G (p.Leu435Val) c.949C>G (p.Leu317Val) | |
1 | g.154465282C>T | CA420975991 | IL6R | c.1309C>T (p.Leu437=) c.*117C>T (n.*117C>T) n.507C>T c.1073C>T (p.Pro358Leu) c.*150C>T (n.*150C>T) c.1357C>T (p.Leu453=) c.1456C>T (p.Leu486=) c.1408C>T (p.Leu470=) c.1402C>T (p.Leu468=) c.1303C>T (p.Leu435=) c.949C>T (p.Leu317=) | gnomAD v4 |
1 | g.154465285_154465291del | CA2746186212 | IL6R | c.1312_1318del (p.Gly438ThrfsTer?) c.*120_*126del (n.*120_*126del) n.510_516del c.1076_1082del (p.Gly359AspfsTer30) c.*153_*159del (n.*153_*159del) c.1360_1366del (p.Gly454ThrfsTer?) c.1459_1465del (p.Gly487ThrfsTer?) c.1411_1417del (p.Gly471ThrfsTer?) c.1405_1411del (p.Gly469ThrfsTer?) c.1306_1312del (p.Gly436ThrfsTer?) c.952_958del (p.Gly318ThrfsTer?) | |
1 | g.154465283T>A | CA342628625 | IL6R | c.1310T>A (p.Leu437Gln) c.*118T>A (n.*118T>A) n.508T>A c.1074T>A (p.Pro358=) c.*151T>A (n.*151T>A) c.1358T>A (p.Leu453Gln) c.1457T>A (p.Leu486Gln) c.1409T>A (p.Leu470Gln) c.1403T>A (p.Leu468Gln) c.1304T>A (p.Leu435Gln) c.950T>A (p.Leu317Gln) | |
1 | g.154465283T>C | CA342628624 | IL6R | c.1310T>C (p.Leu437Pro) c.*118T>C (n.*118T>C) n.508T>C c.1074T>C (p.Pro358=) c.*151T>C (n.*151T>C) c.1358T>C (p.Leu453Pro) c.1457T>C (p.Leu486Pro) c.1409T>C (p.Leu470Pro) c.1403T>C (p.Leu468Pro) c.1304T>C (p.Leu435Pro) c.950T>C (p.Leu317Pro) | |
1 | g.154465283T>G | CA342628623 | IL6R | c.1310T>G (p.Leu437Arg) c.*118T>G (n.*118T>G) n.508T>G c.1074T>G (p.Pro358=) c.*151T>G (n.*151T>G) c.1358T>G (p.Leu453Arg) c.1457T>G (p.Leu486Arg) c.1409T>G (p.Leu470Arg) c.1403T>G (p.Leu468Arg) c.1304T>G (p.Leu435Arg) c.950T>G (p.Leu317Arg) | |
1 | g.154465284G>A | CA420975992 | IL6R | c.1311G>A (p.Leu437=) c.*119G>A (n.*119G>A) n.509G>A c.1075G>A (p.Gly359Arg) c.*152G>A (n.*152G>A) c.1359G>A (p.Leu453=) c.1458G>A (p.Leu486=) c.1410G>A (p.Leu470=) c.1404G>A (p.Leu468=) c.1305G>A (p.Leu435=) c.951G>A (p.Leu317=) | |
1 | g.154465284G>C | CA420975993 | IL6R | c.1311G>C (p.Leu437=) c.*119G>C (n.*119G>C) n.509G>C c.1075G>C (p.Gly359Arg) c.*152G>C (n.*152G>C) c.1359G>C (p.Leu453=) c.1458G>C (p.Leu486=) c.1410G>C (p.Leu470=) c.1404G>C (p.Leu468=) c.1305G>C (p.Leu435=) c.951G>C (p.Leu317=) | |
1 | g.154465284G>T | CA420975994 | IL6R | c.1311G>T (p.Leu437=) c.*119G>T (n.*119G>T) n.509G>T c.1075G>T (p.Gly359Trp) c.*152G>T (n.*152G>T) c.1359G>T (p.Leu453=) c.1458G>T (p.Leu486=) c.1410G>T (p.Leu470=) c.1404G>T (p.Leu468=) c.1305G>T (p.Leu435=) c.951G>T (p.Leu317=) | |
1 | g.154465285G>A | CA342628626 | IL6R | c.1312G>A (p.Gly438Arg) c.*120G>A (n.*120G>A) n.510G>A c.1076G>A (p.Gly359Glu) c.*153G>A (n.*153G>A) c.1360G>A (p.Gly454Arg) c.1459G>A (p.Gly487Arg) c.1411G>A (p.Gly471Arg) c.1405G>A (p.Gly469Arg) c.1306G>A (p.Gly436Arg) c.952G>A (p.Gly318Arg) | |
1 | g.154465285G>C | CA342628627 | IL6R | c.1312G>C (p.Gly438Arg) c.*120G>C (n.*120G>C) n.510G>C c.1076G>C (p.Gly359Ala) c.*153G>C (n.*153G>C) c.1360G>C (p.Gly454Arg) c.1459G>C (p.Gly487Arg) c.1411G>C (p.Gly471Arg) c.1405G>C (p.Gly469Arg) c.1306G>C (p.Gly436Arg) c.952G>C (p.Gly318Arg) | |
1 | g.154465285G= | CA2480880313 | IL6R | c.1312G= (p.Gly438=) c.*120G= (n.*120G=) n.510G= c.1076G= (p.Gly359=) c.*153G= (n.*153G=) c.1360G= (p.Gly454=) c.1459G= (p.Gly487=) c.1411G= (p.Gly471=) c.1405G= (p.Gly469=) c.1306G= (p.Gly436=) c.952G= (p.Gly318=) | |
1 | g.154465285G>T | CA342628628 | IL6R | c.1312G>T (p.Gly438Trp) c.*120G>T (n.*120G>T) n.510G>T c.1076G>T (p.Gly359Val) c.*153G>T (n.*153G>T) c.1360G>T (p.Gly454Trp) c.1459G>T (p.Gly487Trp) c.1411G>T (p.Gly471Trp) c.1405G>T (p.Gly469Trp) c.1306G>T (p.Gly436Trp) c.952G>T (p.Gly318Trp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154465286G>A | CA30816533 | IL6R | c.1313G>A (p.Gly438Glu) c.*121G>A (n.*121G>A) n.511G>A c.1077G>A (p.Gly359=) c.*154G>A (n.*154G>A) c.1361G>A (p.Gly454Glu) c.1460G>A (p.Gly487Glu) c.1412G>A (p.Gly471Glu) c.1406G>A (p.Gly469Glu) c.1307G>A (p.Gly436Glu) c.953G>A (p.Gly318Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154465286G>C | CA342628629 | IL6R | c.1313G>C (p.Gly438Ala) c.*121G>C (n.*121G>C) n.511G>C c.1077G>C (p.Gly359=) c.*154G>C (n.*154G>C) c.1361G>C (p.Gly454Ala) c.1460G>C (p.Gly487Ala) c.1412G>C (p.Gly471Ala) c.1406G>C (p.Gly469Ala) c.1307G>C (p.Gly436Ala) c.953G>C (p.Gly318Ala) | gnomAD v4 |
1 | g.154465286G= | CA2480880314 | IL6R | c.1313G= (p.Gly438=) c.*121G= (n.*121G=) n.511G= c.1077G= (p.Gly359=) c.*154G= (n.*154G=) c.1361G= (p.Gly454=) c.1460G= (p.Gly487=) c.1412G= (p.Gly471=) c.1406G= (p.Gly469=) c.1307G= (p.Gly436=) c.953G= (p.Gly318=) | |
1 | g.154465286G>T | CA342628630 | IL6R | c.1313G>T (p.Gly438Val) c.*121G>T (n.*121G>T) n.511G>T c.1077G>T (p.Gly359=) c.*154G>T (n.*154G>T) c.1361G>T (p.Gly454Val) c.1460G>T (p.Gly487Val) c.1412G>T (p.Gly471Val) c.1406G>T (p.Gly469Val) c.1307G>T (p.Gly436Val) c.953G>T (p.Gly318Val) | |
1 | g.154465287G>A | CA420975997 | IL6R | c.1314G>A (p.Gly438=) c.*122G>A (n.*122G>A) n.512G>A c.1078G>A (p.Val360Ile) c.*155G>A (n.*155G>A) c.1362G>A (p.Gly454=) c.1461G>A (p.Gly487=) c.1413G>A (p.Gly471=) c.1407G>A (p.Gly469=) c.1308G>A (p.Gly436=) c.954G>A (p.Gly318=) | |
1 | g.154465287G>C | CA420975995 | IL6R | c.1314G>C (p.Gly438=) c.*122G>C (n.*122G>C) n.512G>C c.1078G>C (p.Val360Leu) c.*155G>C (n.*155G>C) c.1362G>C (p.Gly454=) c.1461G>C (p.Gly487=) c.1413G>C (p.Gly471=) c.1407G>C (p.Gly469=) c.1308G>C (p.Gly436=) c.954G>C (p.Gly318=) | |
1 | g.154465287G>T | CA420975996 | IL6R | c.1314G>T (p.Gly438=) c.*122G>T (n.*122G>T) n.512G>T c.1078G>T (p.Val360Phe) c.*155G>T (n.*155G>T) c.1362G>T (p.Gly454=) c.1461G>T (p.Gly487=) c.1413G>T (p.Gly471=) c.1407G>T (p.Gly469=) c.1308G>T (p.Gly436=) c.954G>T (p.Gly318=) | gnomAD v4 |
1 | g.154465288T>A | CA342628631 | IL6R | c.1315T>A (p.Ser439Thr) c.*123T>A (n.*123T>A) n.513T>A c.1079T>A (p.Val360Asp) c.*156T>A (n.*156T>A) c.1363T>A (p.Ser455Thr) c.1462T>A (p.Ser488Thr) c.1414T>A (p.Ser472Thr) c.1408T>A (p.Ser470Thr) c.1309T>A (p.Ser437Thr) c.955T>A (p.Ser319Thr) | |
1 | g.154465288T>C | CA342628633 | IL6R | c.1315T>C (p.Ser439Pro) c.*123T>C (n.*123T>C) n.513T>C c.1079T>C (p.Val360Ala) c.*156T>C (n.*156T>C) c.1363T>C (p.Ser455Pro) c.1462T>C (p.Ser488Pro) c.1414T>C (p.Ser472Pro) c.1408T>C (p.Ser470Pro) c.1309T>C (p.Ser437Pro) c.955T>C (p.Ser319Pro) | |
1 | g.154465288T>G | CA342628632 | IL6R | c.1315T>G (p.Ser439Ala) c.*123T>G (n.*123T>G) n.513T>G c.1079T>G (p.Val360Gly) c.*156T>G (n.*156T>G) c.1363T>G (p.Ser455Ala) c.1462T>G (p.Ser488Ala) c.1414T>G (p.Ser472Ala) c.1408T>G (p.Ser470Ala) c.1309T>G (p.Ser437Ala) c.955T>G (p.Ser319Ala) | |
1 | g.154465289C>A | CA342628634 | IL6R | c.1316C>A (p.Ser439Tyr) c.*124C>A (n.*124C>A) n.514C>A c.1080C>A (p.Val360=) c.*157C>A (n.*157C>A) c.1364C>A (p.Ser455Tyr) c.1463C>A (p.Ser488Tyr) c.1415C>A (p.Ser472Tyr) c.1409C>A (p.Ser470Tyr) c.1310C>A (p.Ser437Tyr) c.956C>A (p.Ser319Tyr) | |
1 | g.154465289C>G | CA342628635 | IL6R | c.1316C>G (p.Ser439Cys) c.*124C>G (n.*124C>G) n.514C>G c.1080C>G (p.Val360=) c.*157C>G (n.*157C>G) c.1364C>G (p.Ser455Cys) c.1463C>G (p.Ser488Cys) c.1415C>G (p.Ser472Cys) c.1409C>G (p.Ser470Cys) c.1310C>G (p.Ser437Cys) c.956C>G (p.Ser319Cys) | |
1 | g.154465289C>T | CA342628636 | IL6R | c.1316C>T (p.Ser439Phe) c.*124C>T (n.*124C>T) n.514C>T c.1080C>T (p.Val360=) c.*157C>T (n.*157C>T) c.1364C>T (p.Ser455Phe) c.1463C>T (p.Ser488Phe) c.1415C>T (p.Ser472Phe) c.1409C>T (p.Ser470Phe) c.1310C>T (p.Ser437Phe) c.956C>T (p.Ser319Phe) | |
1 | g.154465290T>A | CA420975998 | IL6R | c.1317T>A (p.Ser439=) c.*125T>A (n.*125T>A) n.515T>A c.1081T>A (p.Ter361Arg) c.*158T>A (n.*158T>A) c.1365T>A (p.Ser455=) c.1464T>A (p.Ser488=) c.1416T>A (p.Ser472=) c.1410T>A (p.Ser470=) c.1311T>A (p.Ser437=) c.957T>A (p.Ser319=) | |
1 | g.154465290T>C | CA420975999 | IL6R | c.1317T>C (p.Ser439=) c.*125T>C (n.*125T>C) n.515T>C c.1081T>C (p.Ter361Arg) c.*158T>C (n.*158T>C) c.1365T>C (p.Ser455=) c.1464T>C (p.Ser488=) c.1416T>C (p.Ser472=) c.1410T>C (p.Ser470=) c.1311T>C (p.Ser437=) c.957T>C (p.Ser319=) | gnomAD v4 |
1 | g.154465290T>G | CA420976000 | IL6R | c.1317T>G (p.Ser439=) c.*125T>G (n.*125T>G) n.515T>G c.1081T>G (p.Ter361Gly) c.*158T>G (n.*158T>G) c.1365T>G (p.Ser455=) c.1464T>G (p.Ser488=) c.1416T>G (p.Ser472=) c.1410T>G (p.Ser470=) c.1311T>G (p.Ser437=) c.957T>G (p.Ser319=) | |
1 | g.154465291G>A | CA342628637 | IL6R | c.1318G>A (p.Asp440Asn) c.*126G>A (n.*126G>A) n.516G>A c.1082G>A (p.Ter361=) c.*159G>A (n.*159G>A) c.1366G>A (p.Asp456Asn) c.1465G>A (p.Asp489Asn) c.1417G>A (p.Asp473Asn) c.1411G>A (p.Asp471Asn) c.1312G>A (p.Asp438Asn) c.958G>A (p.Asp320Asn) | |
1 | g.154465291G>C | CA342628638 | IL6R | c.1318G>C (p.Asp440His) c.*126G>C (n.*126G>C) n.516G>C c.1082G>C (p.Ter361Ser) c.*159G>C (n.*159G>C) c.1366G>C (p.Asp456His) c.1465G>C (p.Asp489His) c.1417G>C (p.Asp473His) c.1411G>C (p.Asp471His) c.1312G>C (p.Asp438His) c.958G>C (p.Asp320His) | |
1 | g.154465291G>T | CA342628639 | IL6R | c.1318G>T (p.Asp440Tyr) c.*126G>T (n.*126G>T) n.516G>T c.1082G>T (p.Ter361Leu) c.*159G>T (n.*159G>T) c.1366G>T (p.Asp456Tyr) c.1465G>T (p.Asp489Tyr) c.1417G>T (p.Asp473Tyr) c.1411G>T (p.Asp471Tyr) c.1312G>T (p.Asp438Tyr) c.958G>T (p.Asp320Tyr) | |
1 | g.154465292A>C | CA342628640 | IL6R | c.1319A>C (p.Asp440Ala) c.*127A>C (n.*127A>C) n.517A>C c.1083A>C (p.Ter361Cys) c.*160A>C (n.*160A>C) c.1367A>C (p.Asp456Ala) c.1466A>C (p.Asp489Ala) c.1418A>C (p.Asp473Ala) c.1412A>C (p.Asp471Ala) c.1313A>C (p.Asp438Ala) c.959A>C (p.Asp320Ala) | |
1 | g.154465292A>G | CA342628641 | IL6R | c.1319A>G (p.Asp440Gly) c.*127A>G (n.*127A>G) n.517A>G c.1083A>G (p.Ter361Trp) c.*160A>G (n.*160A>G) c.1367A>G (p.Asp456Gly) c.1466A>G (p.Asp489Gly) c.1418A>G (p.Asp473Gly) c.1412A>G (p.Asp471Gly) c.1313A>G (p.Asp438Gly) c.959A>G (p.Asp320Gly) | |
1 | g.154465292A>T | CA342628642 | IL6R | c.1319A>T (p.Asp440Val) c.*127A>T (n.*127A>T) n.517A>T c.1083A>T (p.Ter361Cys) c.*160A>T (n.*160A>T) c.1367A>T (p.Asp456Val) c.1466A>T (p.Asp489Val) c.1418A>T (p.Asp473Val) c.1412A>T (p.Asp471Val) c.1313A>T (p.Asp438Val) c.959A>T (p.Asp320Val) | |
1 | g.154465293C>A | CA342628643 | IL6R | c.1320C>A (p.Asp440Glu) c.*128C>A (n.*128C>A) n.518C>A c.*1C>A (n.*1C>A) c.*161C>A (n.*161C>A) c.1368C>A (p.Asp456Glu) c.1467C>A (p.Asp489Glu) c.1419C>A (p.Asp473Glu) c.1413C>A (p.Asp471Glu) c.1314C>A (p.Asp438Glu) c.960C>A (p.Asp320Glu) | |
1 | g.154465293C>G | CA342628644 | IL6R | c.1320C>G (p.Asp440Glu) c.*128C>G (n.*128C>G) n.518C>G c.*1C>G (n.*1C>G) c.*161C>G (n.*161C>G) c.1368C>G (p.Asp456Glu) c.1467C>G (p.Asp489Glu) c.1419C>G (p.Asp473Glu) c.1413C>G (p.Asp471Glu) c.1314C>G (p.Asp438Glu) c.960C>G (p.Asp320Glu) | |
1 | g.154465293C>T | CA420976001 | IL6R | c.1320C>T (p.Asp440=) c.*128C>T (n.*128C>T) n.518C>T c.*1C>T (n.*1C>T) c.*161C>T (n.*161C>T) c.1368C>T (p.Asp456=) c.1467C>T (p.Asp489=) c.1419C>T (p.Asp473=) c.1413C>T (p.Asp471=) c.1314C>T (p.Asp438=) c.960C>T (p.Asp320=) |