| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.154465146G>A | CA1129310 | IL6R | c.1173G>A (p.Thr391=) c.1079G>A (p.Arg360His) n.486G>A n.371G>A c.937G>A (p.Val313Met) c.*14G>A (n.*14G>A) c.1221G>A (p.Thr407=) c.1127G>A (p.Arg376His) c.1320G>A (p.Thr440=) c.1272G>A (p.Thr424=) c.1266G>A (p.Thr422=) c.1167G>A (p.Thr389=) c.813G>A (p.Thr271=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465146G>C | CA342628270 | IL6R | c.1173G>C (p.Thr391=) c.1079G>C (p.Arg360Pro) n.486G>C n.371G>C c.937G>C (p.Val313Leu) c.*14G>C (n.*14G>C) c.1221G>C (p.Thr407=) c.1127G>C (p.Arg376Pro) c.1320G>C (p.Thr440=) c.1272G>C (p.Thr424=) c.1266G>C (p.Thr422=) c.1167G>C (p.Thr389=) c.813G>C (p.Thr271=) | |
| 1 | g.154465146G= | CA1148452457 | IL6R | c.1173G= (p.Thr391=) c.1079G= (p.Arg360=) n.486G= n.371G= c.937G= (p.Val313=) c.*14G= (n.*14G=) c.1221G= (p.Thr407=) c.1127G= (p.Arg376=) c.1320G= (p.Thr440=) c.1272G= (p.Thr424=) c.1266G= (p.Thr422=) c.1167G= (p.Thr389=) c.813G= (p.Thr271=) | |
| 1 | g.154465146G>T | CA1129311 | IL6R | c.1173G>T (p.Thr391=) c.1079G>T (p.Arg360Leu) n.486G>T n.371G>T c.937G>T (p.Val313Leu) c.*14G>T (n.*14G>T) c.1221G>T (p.Thr407=) c.1127G>T (p.Arg376Leu) c.1320G>T (p.Thr440=) c.1272G>T (p.Thr424=) c.1266G>T (p.Thr422=) c.1167G>T (p.Thr389=) c.813G>T (p.Thr271=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.154465147T>A | CA342628273 | IL6R | c.1174T>A (p.Trp392Arg) c.1080T>A (p.Arg360=) n.487T>A n.372T>A c.938T>A (p.Val313Glu) c.*15T>A (n.*15T>A) c.1222T>A (p.Trp408Arg) c.1128T>A (p.Arg376=) c.1321T>A (p.Trp441Arg) c.1273T>A (p.Trp425Arg) c.1267T>A (p.Trp423Arg) c.1168T>A (p.Trp390Arg) c.814T>A (p.Trp272Arg) | |
| 1 | g.154465147T>C | CA342628275 | IL6R | c.1174T>C (p.Trp392Arg) c.1080T>C (p.Arg360=) n.487T>C n.372T>C c.938T>C (p.Val313Ala) c.*15T>C (n.*15T>C) c.1222T>C (p.Trp408Arg) c.1128T>C (p.Arg376=) c.1321T>C (p.Trp441Arg) c.1273T>C (p.Trp425Arg) c.1267T>C (p.Trp423Arg) c.1168T>C (p.Trp390Arg) c.814T>C (p.Trp272Arg) | |
| 1 | g.154465147T>G | CA342628277 | IL6R | c.1174T>G (p.Trp392Gly) c.1080T>G (p.Arg360=) n.487T>G n.372T>G c.938T>G (p.Val313Gly) c.*15T>G (n.*15T>G) c.1222T>G (p.Trp408Gly) c.1128T>G (p.Arg376=) c.1321T>G (p.Trp441Gly) c.1273T>G (p.Trp425Gly) c.1267T>G (p.Trp423Gly) c.1168T>G (p.Trp390Gly) c.814T>G (p.Trp272Gly) | |
| 1 | g.154465148G>A | CA342628284 | IL6R | c.1175G>A (p.Trp392Ter) c.1081G>A (p.Gly361Arg) n.488G>A n.373G>A c.939G>A (p.Val313=) c.*16G>A (n.*16G>A) c.1223G>A (p.Trp408Ter) c.1129G>A (p.Gly377Arg) c.1322G>A (p.Trp441Ter) c.1274G>A (p.Trp425Ter) c.1268G>A (p.Trp423Ter) c.1169G>A (p.Trp390Ter) c.815G>A (p.Trp272Ter) | |
| 1 | g.154465148G>C | CA342628282 | IL6R | c.1175G>C (p.Trp392Ser) c.1081G>C (p.Gly361Arg) n.488G>C n.373G>C c.939G>C (p.Val313=) c.*16G>C (n.*16G>C) c.1223G>C (p.Trp408Ser) c.1129G>C (p.Gly377Arg) c.1322G>C (p.Trp441Ser) c.1274G>C (p.Trp425Ser) c.1268G>C (p.Trp423Ser) c.1169G>C (p.Trp390Ser) c.815G>C (p.Trp272Ser) | |
| 1 | g.154465148G>T | CA342628280 | IL6R | c.1175G>T (p.Trp392Leu) c.1081G>T (p.Gly361Ter) n.488G>T n.373G>T c.939G>T (p.Val313=) c.*16G>T (n.*16G>T) c.1223G>T (p.Trp408Leu) c.1129G>T (p.Gly377Ter) c.1322G>T (p.Trp441Leu) c.1274G>T (p.Trp425Leu) c.1268G>T (p.Trp423Leu) c.1169G>T (p.Trp390Leu) c.815G>T (p.Trp272Leu) | |
| 1 | g.154465149G>A | CA342628286 | IL6R | c.1176G>A (p.Trp392Ter) c.1082G>A (p.Gly361Glu) n.489G>A n.374G>A c.940G>A (p.Glu314Lys) c.*17G>A (n.*17G>A) c.1224G>A (p.Trp408Ter) c.1130G>A (p.Gly377Glu) c.1323G>A (p.Trp441Ter) c.1275G>A (p.Trp425Ter) c.1269G>A (p.Trp423Ter) c.1170G>A (p.Trp390Ter) c.816G>A (p.Trp272Ter) | |
| 1 | g.154465149G>C | CA342628288 | IL6R | c.1176G>C (p.Trp392Cys) c.1082G>C (p.Gly361Ala) n.489G>C n.374G>C c.940G>C (p.Glu314Gln) c.*17G>C (n.*17G>C) c.1224G>C (p.Trp408Cys) c.1130G>C (p.Gly377Ala) c.1323G>C (p.Trp441Cys) c.1275G>C (p.Trp425Cys) c.1269G>C (p.Trp423Cys) c.1170G>C (p.Trp390Cys) c.816G>C (p.Trp272Cys) | |
| 1 | g.154465149G>T | CA342628290 | IL6R | c.1176G>T (p.Trp392Cys) c.1082G>T (p.Gly361Val) n.489G>T n.374G>T c.940G>T (p.Glu314Ter) c.*17G>T (n.*17G>T) c.1224G>T (p.Trp408Cys) c.1130G>T (p.Gly377Val) c.1323G>T (p.Trp441Cys) c.1275G>T (p.Trp425Cys) c.1269G>T (p.Trp423Cys) c.1170G>T (p.Trp390Cys) c.816G>T (p.Trp272Cys) | |
| 1 | g.154465150A>C | CA342628292 | IL6R | c.1177A>C (p.Lys393Gln) c.1083A>C (p.Gly361=) n.490A>C n.375A>C c.941A>C (p.Glu314Ala) c.*18A>C (n.*18A>C) c.1225A>C (p.Lys409Gln) c.1131A>C (p.Gly377=) c.1324A>C (p.Lys442Gln) c.1276A>C (p.Lys426Gln) c.1270A>C (p.Lys424Gln) c.1171A>C (p.Lys391Gln) c.817A>C (p.Lys273Gln) | |
| 1 | g.154465150A>G | CA342628293 | IL6R | c.1177A>G (p.Lys393Glu) c.1083A>G (p.Gly361=) n.490A>G n.375A>G c.941A>G (p.Glu314Gly) c.*18A>G (n.*18A>G) c.1225A>G (p.Lys409Glu) c.1131A>G (p.Gly377=) c.1324A>G (p.Lys442Glu) c.1276A>G (p.Lys426Glu) c.1270A>G (p.Lys424Glu) c.1171A>G (p.Lys391Glu) c.817A>G (p.Lys273Glu) | |
| 1 | g.154465150A>T | CA342628296 | IL6R | c.1177A>T (p.Lys393Ter) c.1083A>T (p.Gly361=) n.490A>T n.375A>T c.941A>T (p.Glu314Val) c.*18A>T (n.*18A>T) c.1225A>T (p.Lys409Ter) c.1131A>T (p.Gly377=) c.1324A>T (p.Lys442Ter) c.1276A>T (p.Lys426Ter) c.1270A>T (p.Lys424Ter) c.1171A>T (p.Lys391Ter) c.817A>T (p.Lys273Ter) | |
| 1 | g.154465151A>C | CA342628298 | IL6R | c.1178A>C (p.Lys393Thr) c.1084A>C (p.Ser362Arg) n.491A>C n.376A>C c.942A>C (p.Glu314Asp) c.*19A>C (n.*19A>C) c.1226A>C (p.Lys409Thr) c.1132A>C (p.Ser378Arg) c.1325A>C (p.Lys442Thr) c.1277A>C (p.Lys426Thr) c.1271A>C (p.Lys424Thr) c.1172A>C (p.Lys391Thr) c.818A>C (p.Lys273Thr) | |
| 1 | g.154465151A>G | CA342628300 | IL6R | c.1178A>G (p.Lys393Arg) c.1084A>G (p.Ser362Gly) n.491A>G n.376A>G c.942A>G (p.Glu314=) c.*19A>G (n.*19A>G) c.1226A>G (p.Lys409Arg) c.1132A>G (p.Ser378Gly) c.1325A>G (p.Lys442Arg) c.1277A>G (p.Lys426Arg) c.1271A>G (p.Lys424Arg) c.1172A>G (p.Lys391Arg) c.818A>G (p.Lys273Arg) | |
| 1 | g.154465151A>T | CA342628302 | IL6R | c.1178A>T (p.Lys393Met) c.1084A>T (p.Ser362Cys) n.491A>T n.376A>T c.942A>T (p.Glu314Asp) c.*19A>T (n.*19A>T) c.1226A>T (p.Lys409Met) c.1132A>T (p.Ser378Cys) c.1325A>T (p.Lys442Met) c.1277A>T (p.Lys426Met) c.1271A>T (p.Lys424Met) c.1172A>T (p.Lys391Met) c.818A>T (p.Lys273Met) | |
| 1 | g.154465152G>A | CA342628308 | IL6R | c.1179G>A (p.Lys393=) c.1085G>A (p.Ser362Asn) n.492G>A n.377G>A c.943G>A (p.Ala315Thr) c.*20G>A (n.*20G>A) c.1227G>A (p.Lys409=) c.1133G>A (p.Ser378Asn) c.1326G>A (p.Lys442=) c.1278G>A (p.Lys426=) c.1272G>A (p.Lys424=) c.1173G>A (p.Lys391=) c.819G>A (p.Lys273=) | dbSNP gnomAD v4 |
| 1 | g.154465152G>C | CA342628309 | IL6R | c.1179G>C (p.Lys393Asn) c.1085G>C (p.Ser362Thr) n.492G>C n.377G>C c.943G>C (p.Ala315Pro) c.*20G>C (n.*20G>C) c.1227G>C (p.Lys409Asn) c.1133G>C (p.Ser378Thr) c.1326G>C (p.Lys442Asn) c.1278G>C (p.Lys426Asn) c.1272G>C (p.Lys424Asn) c.1173G>C (p.Lys391Asn) c.819G>C (p.Lys273Asn) | |
| 1 | g.154465152G= | CA2480880258 | IL6R | c.1179G= (p.Lys393=) c.1085G= (p.Ser362=) n.492G= n.377G= c.943G= (p.Ala315=) c.*20G= (n.*20G=) c.1227G= (p.Lys409=) c.1133G= (p.Ser378=) c.1326G= (p.Lys442=) c.1278G= (p.Lys426=) c.1272G= (p.Lys424=) c.1173G= (p.Lys391=) c.819G= (p.Lys273=) | |
| 1 | g.154465152G>T | CA342628311 | IL6R | c.1179G>T (p.Lys393Asn) c.1085G>T (p.Ser362Ile) n.492G>T n.377G>T c.943G>T (p.Ala315Ser) c.*20G>T (n.*20G>T) c.1227G>T (p.Lys409Asn) c.1133G>T (p.Ser378Ile) c.1326G>T (p.Lys442Asn) c.1278G>T (p.Lys426Asn) c.1272G>T (p.Lys424Asn) c.1173G>T (p.Lys391Asn) c.819G>T (p.Lys273Asn) | |
| 1 | g.154465153C>A | CA342628318 | IL6R | c.1180C>A (p.Leu394Met) c.1086C>A (p.Ser362Arg) n.493C>A n.378C>A c.944C>A (p.Ala315Asp) c.*21C>A (n.*21C>A) c.1228C>A (p.Leu410Met) c.1134C>A (p.Ser378Arg) c.1327C>A (p.Leu443Met) c.1279C>A (p.Leu427Met) c.1273C>A (p.Leu425Met) c.1174C>A (p.Leu392Met) c.820C>A (p.Leu274Met) | |
| 1 | g.154465153C= | CA2480880259 | IL6R | c.1180C= (p.Leu394=) c.1086C= (p.Ser362=) n.493C= n.378C= c.944C= (p.Ala315=) c.*21C= (n.*21C=) c.1228C= (p.Leu410=) c.1134C= (p.Ser378=) c.1327C= (p.Leu443=) c.1279C= (p.Leu427=) c.1273C= (p.Leu425=) c.1174C= (p.Leu392=) c.820C= (p.Leu274=) | |
| 1 | g.154465153C>G | CA342628316 | IL6R | c.1180C>G (p.Leu394Val) c.1086C>G (p.Ser362Arg) n.493C>G n.378C>G c.944C>G (p.Ala315Gly) c.*21C>G (n.*21C>G) c.1228C>G (p.Leu410Val) c.1134C>G (p.Ser378Arg) c.1327C>G (p.Leu443Val) c.1279C>G (p.Leu427Val) c.1273C>G (p.Leu425Val) c.1174C>G (p.Leu392Val) c.820C>G (p.Leu274Val) | |
| 1 | g.154465153C>T | CA1129312 | IL6R | c.1180C>T (p.Leu394=) c.1086C>T (p.Ser362=) n.493C>T n.378C>T c.944C>T (p.Ala315Val) c.*21C>T (n.*21C>T) c.1228C>T (p.Leu410=) c.1134C>T (p.Ser378=) c.1327C>T (p.Leu443=) c.1279C>T (p.Leu427=) c.1273C>T (p.Leu425=) c.1174C>T (p.Leu392=) c.820C>T (p.Leu274=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.154465154T>A | CA342628320 | IL6R | c.1181T>A (p.Leu394Gln) c.1087T>A (p.Cys363Ser) n.494T>A n.379T>A c.945T>A (p.Ala315=) c.*22T>A (n.*22T>A) c.1229T>A (p.Leu410Gln) c.1135T>A (p.Cys379Ser) c.1328T>A (p.Leu443Gln) c.1280T>A (p.Leu427Gln) c.1274T>A (p.Leu425Gln) c.1175T>A (p.Leu392Gln) c.821T>A (p.Leu274Gln) | |
| 1 | g.154465154T>C | CA342628324 | IL6R | c.1181T>C (p.Leu394Pro) c.1087T>C (p.Cys363Arg) n.494T>C n.379T>C c.945T>C (p.Ala315=) c.*22T>C (n.*22T>C) c.1229T>C (p.Leu410Pro) c.1135T>C (p.Cys379Arg) c.1328T>C (p.Leu443Pro) c.1280T>C (p.Leu427Pro) c.1274T>C (p.Leu425Pro) c.1175T>C (p.Leu392Pro) c.821T>C (p.Leu274Pro) | gnomAD v4 |
| 1 | g.154465154T>G | CA342628322 | IL6R | c.1181T>G (p.Leu394Arg) c.1087T>G (p.Cys363Gly) n.494T>G n.379T>G c.945T>G (p.Ala315=) c.*22T>G (n.*22T>G) c.1229T>G (p.Leu410Arg) c.1135T>G (p.Cys379Gly) c.1328T>G (p.Leu443Arg) c.1280T>G (p.Leu427Arg) c.1274T>G (p.Leu425Arg) c.1175T>G (p.Leu392Arg) c.821T>G (p.Leu274Arg) | |
| 1 | g.154465154T= | CA2480880260 | IL6R | c.1181T= (p.Leu394=) c.1087T= (p.Cys363=) n.494T= n.379T= c.945T= (p.Ala315=) c.*22T= (n.*22T=) c.1229T= (p.Leu410=) c.1135T= (p.Cys379=) c.1328T= (p.Leu443=) c.1280T= (p.Leu427=) c.1274T= (p.Leu425=) c.1175T= (p.Leu392=) c.821T= (p.Leu274=) | |
| 1 | g.154465155G>A | CA342628329 | IL6R | c.1182G>A (p.Leu394=) c.1088G>A (p.Cys363Tyr) n.495G>A n.380G>A c.946G>A (p.Ala316Thr) c.*23G>A (n.*23G>A) c.1230G>A (p.Leu410=) c.1136G>A (p.Cys379Tyr) c.1329G>A (p.Leu443=) c.1281G>A (p.Leu427=) c.1275G>A (p.Leu425=) c.1176G>A (p.Leu392=) c.822G>A (p.Leu274=) | |
| 1 | g.154465155G>C | CA342628332 | IL6R | c.1182G>C (p.Leu394=) c.1088G>C (p.Cys363Ser) n.495G>C n.380G>C c.946G>C (p.Ala316Pro) c.*23G>C (n.*23G>C) c.1230G>C (p.Leu410=) c.1136G>C (p.Cys379Ser) c.1329G>C (p.Leu443=) c.1281G>C (p.Leu427=) c.1275G>C (p.Leu425=) c.1176G>C (p.Leu392=) c.822G>C (p.Leu274=) | |
| 1 | g.154465155G>T | CA342628327 | IL6R | c.1182G>T (p.Leu394=) c.1088G>T (p.Cys363Phe) n.495G>T n.380G>T c.946G>T (p.Ala316Ser) c.*23G>T (n.*23G>T) c.1230G>T (p.Leu410=) c.1136G>T (p.Cys379Phe) c.1329G>T (p.Leu443=) c.1281G>T (p.Leu427=) c.1275G>T (p.Leu425=) c.1176G>T (p.Leu392=) c.822G>T (p.Leu274=) | |
| 1 | g.154465155_154465181delinsGCGGGCTCTGAAGGAAGGCAAGACAAG | CA1148412767 | IL6R | c.1182_1208delinsGCGGGCTCTGAAGGAAGGCAAGACAAG (p.Leu394=) c.1088_*16delinsGCGGGCTCTGAAGGAAGGCAAGACAAG (n.[c.1088_*16delinsGCGGGCTCTGAAGGAAGGCAAGACAAG;Cys363=]) n.495_521delinsGCGGGCTCTGAAGGAAGGCAAGACAAG n.380_406delinsGCGGGCTCTGAAGGAAGGCAAGACAAG c.946_972delinsGCGGGCTCTGAAGGAAGGCAAGACAAG (p.Ala316=) c.*23_*49delinsGCGGGCTCTGAAGGAAGGCAAGACAAG (n.*23_*49delinsGCGGGCTCTGAAGGAAGGCAAGACAAG) c.1230_1256delinsGCGGGCTCTGAAGGAAGGCAAGACAAG (p.Leu410=) c.1136_*16delinsGCGGGCTCTGAAGGAAGGCAAGACAAG (n.[c.1136_*16delinsGCGGGCTCTGAAGGAAGGCAAGACAAG;Cys379=]) c.1329_1355delinsGCGGGCTCTGAAGGAAGGCAAGACAAG (p.Leu443=) c.1281_1307delinsGCGGGCTCTGAAGGAAGGCAAGACAAG (p.Leu427=) c.1275_1301delinsGCGGGCTCTGAAGGAAGGCAAGACAAG (p.Leu425=) c.1176_1202delinsGCGGGCTCTGAAGGAAGGCAAGACAAG (p.Leu392=) c.822_848delinsGCGGGCTCTGAAGGAAGGCAAGACAAG (p.Leu274=) | |
| 1 | g.154465155_154465181dup | CA1129313 | IL6R | c.1182_1208dup (p.Thr402_Ser403insArgArgAlaLeuLysGluGlyLysThr) c.1088_*16dup (n.1088_*16dup) n.495_521dup n.380_406dup c.946_972dup (p.Lys324_His325insAlaGlySerGluGlyArgGlnAspLys) c.*23_*49dup (n.*23_*49dup) c.1230_1256dup (p.Thr418_Ser419insArgArgAlaLeuLysGluGlyLysThr) c.1136_*16dup (n.1136_*16dup) c.1329_1355dup (p.Thr451_Ser452insArgArgAlaLeuLysGluGlyLysThr) c.1281_1307dup (p.Thr435_Ser436insArgArgAlaLeuLysGluGlyLysThr) c.1275_1301dup (p.Thr433_Ser434insArgArgAlaLeuLysGluGlyLysThr) c.1176_1202dup (p.Thr400_Ser401insArgArgAlaLeuLysGluGlyLysThr) c.822_848dup (p.Thr282_Ser283insArgArgAlaLeuLysGluGlyLysThr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465156C>A | CA342628336 | IL6R | c.1183C>A (p.Arg395=) c.1089C>A (p.Cys363Ter) n.496C>A n.381C>A c.947C>A (p.Ala316Glu) c.*24C>A (n.*24C>A) c.1231C>A (p.Arg411=) c.1137C>A (p.Cys379Ter) c.1330C>A (p.Arg444=) c.1282C>A (p.Arg428=) c.1276C>A (p.Arg426=) c.1177C>A (p.Arg393=) c.823C>A (p.Arg275=) | |
| 1 | g.154465156C= | CA1141784827 | IL6R | c.1183C= (p.Arg395=) c.1089C= (p.Cys363=) n.496C= n.381C= c.947C= (p.Ala316=) c.*24C= (n.*24C=) c.1231C= (p.Arg411=) c.1137C= (p.Cys379=) c.1330C= (p.Arg444=) c.1282C= (p.Arg428=) c.1276C= (p.Arg426=) c.1177C= (p.Arg393=) c.823C= (p.Arg275=) | |
| 1 | g.154465156C>G | CA342628334 | IL6R | c.1183C>G (p.Arg395Gly) c.1089C>G (p.Cys363Trp) n.496C>G n.381C>G c.947C>G (p.Ala316Gly) c.*24C>G (n.*24C>G) c.1231C>G (p.Arg411Gly) c.1137C>G (p.Cys379Trp) c.1330C>G (p.Arg444Gly) c.1282C>G (p.Arg428Gly) c.1276C>G (p.Arg426Gly) c.1177C>G (p.Arg393Gly) c.823C>G (p.Arg275Gly) | |
| 1 | g.154465156C>T | CA1129314 | IL6R | c.1183C>T (p.Arg395Trp) c.1089C>T (p.Cys363=) n.496C>T n.381C>T c.947C>T (p.Ala316Val) c.*24C>T (n.*24C>T) c.1231C>T (p.Arg411Trp) c.1137C>T (p.Cys379=) c.1330C>T (p.Arg444Trp) c.1282C>T (p.Arg428Trp) c.1276C>T (p.Arg426Trp) c.1177C>T (p.Arg393Trp) c.823C>T (p.Arg275Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465157G>A | CA1129315 | IL6R | c.1184G>A (p.Arg395Gln) c.1090G>A (p.Gly364Arg) n.497G>A n.382G>A c.948G>A (p.Ala316=) c.*25G>A (n.*25G>A) c.1232G>A (p.Arg411Gln) c.1138G>A (p.Gly380Arg) c.1331G>A (p.Arg444Gln) c.1283G>A (p.Arg428Gln) c.1277G>A (p.Arg426Gln) c.1178G>A (p.Arg393Gln) c.824G>A (p.Arg275Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465157G>C | CA342628340 | IL6R | c.1184G>C (p.Arg395Pro) c.1090G>C (p.Gly364Arg) n.497G>C n.382G>C c.948G>C (p.Ala316=) c.*25G>C (n.*25G>C) c.1232G>C (p.Arg411Pro) c.1138G>C (p.Gly380Arg) c.1331G>C (p.Arg444Pro) c.1283G>C (p.Arg428Pro) c.1277G>C (p.Arg426Pro) c.1178G>C (p.Arg393Pro) c.824G>C (p.Arg275Pro) | |
| 1 | g.154465157G= | CA1143782604 | IL6R | c.1184G= (p.Arg395=) c.1090G= (p.Gly364=) n.497G= n.382G= c.948G= (p.Ala316=) c.*25G= (n.*25G=) c.1232G= (p.Arg411=) c.1138G= (p.Gly380=) c.1331G= (p.Arg444=) c.1283G= (p.Arg428=) c.1277G= (p.Arg426=) c.1178G= (p.Arg393=) c.824G= (p.Arg275=) | |
| 1 | g.154465157G>T | CA342628339 | IL6R | c.1184G>T (p.Arg395Leu) c.1090G>T (p.Gly364Trp) n.497G>T n.382G>T c.948G>T (p.Ala316=) c.*25G>T (n.*25G>T) c.1232G>T (p.Arg411Leu) c.1138G>T (p.Gly380Trp) c.1331G>T (p.Arg444Leu) c.1283G>T (p.Arg428Leu) c.1277G>T (p.Arg426Leu) c.1178G>T (p.Arg393Leu) c.824G>T (p.Arg275Leu) | |
| 1 | g.154465158G>A | CA342628343 | IL6R | c.1185G>A (p.Arg395=) c.1091G>A (p.Gly364Glu) n.498G>A n.383G>A c.949G>A (p.Gly317Ser) c.*26G>A (n.*26G>A) c.1233G>A (p.Arg411=) c.1139G>A (p.Gly380Glu) c.1332G>A (p.Arg444=) c.1284G>A (p.Arg428=) c.1278G>A (p.Arg426=) c.1179G>A (p.Arg393=) c.825G>A (p.Arg275=) | |
| 1 | g.154465158G>C | CA342628344 | IL6R | c.1185G>C (p.Arg395=) c.1091G>C (p.Gly364Ala) n.498G>C n.383G>C c.949G>C (p.Gly317Arg) c.*26G>C (n.*26G>C) c.1233G>C (p.Arg411=) c.1139G>C (p.Gly380Ala) c.1332G>C (p.Arg444=) c.1284G>C (p.Arg428=) c.1278G>C (p.Arg426=) c.1179G>C (p.Arg393=) c.825G>C (p.Arg275=) | |
| 1 | g.154465158G>T | CA342628346 | IL6R | c.1185G>T (p.Arg395=) c.1091G>T (p.Gly364Val) n.498G>T n.383G>T c.949G>T (p.Gly317Cys) c.*26G>T (n.*26G>T) c.1233G>T (p.Arg411=) c.1139G>T (p.Gly380Val) c.1332G>T (p.Arg444=) c.1284G>T (p.Arg428=) c.1278G>T (p.Arg426=) c.1179G>T (p.Arg393=) c.825G>T (p.Arg275=) | |
| 1 | g.154465159G>A | CA342628348 | IL6R | c.1186G>A (p.Ala396Thr) c.1092G>A (p.Gly364=) n.499G>A n.384G>A c.950G>A (p.Gly317Asp) c.*27G>A (n.*27G>A) c.1234G>A (p.Ala412Thr) c.1140G>A (p.Gly380=) c.1333G>A (p.Ala445Thr) c.1285G>A (p.Ala429Thr) c.1279G>A (p.Ala427Thr) c.1180G>A (p.Ala394Thr) c.826G>A (p.Ala276Thr) | COSMIC |
| 1 | g.154465159G>C | CA342628350 | IL6R | c.1186G>C (p.Ala396Pro) c.1092G>C (p.Gly364=) n.499G>C n.384G>C c.950G>C (p.Gly317Ala) c.*27G>C (n.*27G>C) c.1234G>C (p.Ala412Pro) c.1140G>C (p.Gly380=) c.1333G>C (p.Ala445Pro) c.1285G>C (p.Ala429Pro) c.1279G>C (p.Ala427Pro) c.1180G>C (p.Ala394Pro) c.826G>C (p.Ala276Pro) | |
| 1 | g.154465159G>T | CA342628352 | IL6R | c.1186G>T (p.Ala396Ser) c.1092G>T (p.Gly364=) n.499G>T n.384G>T c.950G>T (p.Gly317Val) c.*27G>T (n.*27G>T) c.1234G>T (p.Ala412Ser) c.1140G>T (p.Gly380=) c.1333G>T (p.Ala445Ser) c.1285G>T (p.Ala429Ser) c.1279G>T (p.Ala427Ser) c.1180G>T (p.Ala394Ser) c.826G>T (p.Ala276Ser) | |
| 1 | g.154465160C>A | CA342628353 | IL6R | c.1187C>A (p.Ala396Asp) c.1093C>A (p.Leu365Ile) n.500C>A n.385C>A c.951C>A (p.Gly317=) c.*28C>A (n.*28C>A) c.1235C>A (p.Ala412Asp) c.1141C>A (p.Leu381Ile) c.1334C>A (p.Ala445Asp) c.1286C>A (p.Ala429Asp) c.1280C>A (p.Ala427Asp) c.1181C>A (p.Ala394Asp) c.827C>A (p.Ala276Asp) | |
| 1 | g.154465160C>G | CA342628354 | IL6R | c.1187C>G (p.Ala396Gly) c.1093C>G (p.Leu365Val) n.500C>G n.385C>G c.951C>G (p.Gly317=) c.*28C>G (n.*28C>G) c.1235C>G (p.Ala412Gly) c.1141C>G (p.Leu381Val) c.1334C>G (p.Ala445Gly) c.1286C>G (p.Ala429Gly) c.1280C>G (p.Ala427Gly) c.1181C>G (p.Ala394Gly) c.827C>G (p.Ala276Gly) | gnomAD v4 |
| 1 | g.154465160C>T | CA342628356 | IL6R | c.1187C>T (p.Ala396Val) c.1093C>T (p.Leu365Phe) n.500C>T n.385C>T c.951C>T (p.Gly317=) c.*28C>T (n.*28C>T) c.1235C>T (p.Ala412Val) c.1141C>T (p.Leu381Phe) c.1334C>T (p.Ala445Val) c.1286C>T (p.Ala429Val) c.1280C>T (p.Ala427Val) c.1181C>T (p.Ala394Val) c.827C>T (p.Ala276Val) | |
| 1 | g.154465161T>A | CA342628358 | IL6R | c.1188T>A (p.Ala396=) c.1094T>A (p.Leu365His) n.501T>A n.386T>A c.952T>A (p.Ser318Thr) c.*29T>A (n.*29T>A) c.1236T>A (p.Ala412=) c.1142T>A (p.Leu381His) c.1335T>A (p.Ala445=) c.1287T>A (p.Ala429=) c.1281T>A (p.Ala427=) c.1182T>A (p.Ala394=) c.828T>A (p.Ala276=) | |
| 1 | g.154465161T>C | CA1129316 | IL6R | c.1188T>C (p.Ala396=) c.1094T>C (p.Leu365Pro) n.501T>C n.386T>C c.952T>C (p.Ser318Pro) c.*29T>C (n.*29T>C) c.1236T>C (p.Ala412=) c.1142T>C (p.Leu381Pro) c.1335T>C (p.Ala445=) c.1287T>C (p.Ala429=) c.1281T>C (p.Ala427=) c.1182T>C (p.Ala394=) c.828T>C (p.Ala276=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.154465161T>G | CA342628360 | IL6R | c.1188T>G (p.Ala396=) c.1094T>G (p.Leu365Arg) n.501T>G n.386T>G c.952T>G (p.Ser318Ala) c.*29T>G (n.*29T>G) c.1236T>G (p.Ala412=) c.1142T>G (p.Leu381Arg) c.1335T>G (p.Ala445=) c.1287T>G (p.Ala429=) c.1281T>G (p.Ala427=) c.1182T>G (p.Ala394=) c.828T>G (p.Ala276=) | |
| 1 | g.154465161T= | CA2480880261 | IL6R | c.1188T= (p.Ala396=) c.1094T= (p.Leu365=) n.501T= n.386T= c.952T= (p.Ser318=) c.*29T= (n.*29T=) c.1236T= (p.Ala412=) c.1142T= (p.Leu381=) c.1335T= (p.Ala445=) c.1287T= (p.Ala429=) c.1281T= (p.Ala427=) c.1182T= (p.Ala394=) c.828T= (p.Ala276=) | |
| 1 | g.154465162C>A | CA342628362 | IL6R | c.1189C>A (p.Leu397Met) c.1095C>A (p.Leu365=) n.502C>A n.387C>A c.953C>A (p.Ser318Tyr) c.*30C>A (n.*30C>A) c.1237C>A (p.Leu413Met) c.1143C>A (p.Leu381=) c.1336C>A (p.Leu446Met) c.1288C>A (p.Leu430Met) c.1282C>A (p.Leu428Met) c.1183C>A (p.Leu395Met) c.829C>A (p.Leu277Met) | |
| 1 | g.154465162C= | CA1141589141 | IL6R | c.1189C= (p.Leu397=) c.1095C= (p.Leu365=) n.502C= n.387C= c.953C= (p.Ser318=) c.*30C= (n.*30C=) c.1237C= (p.Leu413=) c.1143C= (p.Leu381=) c.1336C= (p.Leu446=) c.1288C= (p.Leu430=) c.1282C= (p.Leu428=) c.1183C= (p.Leu395=) c.829C= (p.Leu277=) | |
| 1 | g.154465162C>G | CA1129317 | IL6R | c.1189C>G (p.Leu397Val) c.1095C>G (p.Leu365=) n.502C>G n.387C>G c.953C>G (p.Ser318Cys) c.*30C>G (n.*30C>G) c.1237C>G (p.Leu413Val) c.1143C>G (p.Leu381=) c.1336C>G (p.Leu446Val) c.1288C>G (p.Leu430Val) c.1282C>G (p.Leu428Val) c.1183C>G (p.Leu395Val) c.829C>G (p.Leu277Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465162C>T | CA420975848 | IL6R | c.1189C>T (p.Leu397=) c.1095C>T (p.Leu365=) n.502C>T n.387C>T c.953C>T (p.Ser318Phe) c.*30C>T (n.*30C>T) c.1237C>T (p.Leu413=) c.1143C>T (p.Leu381=) c.1336C>T (p.Leu446=) c.1288C>T (p.Leu430=) c.1282C>T (p.Leu428=) c.1183C>T (p.Leu395=) c.829C>T (p.Leu277=) | |
| 1 | g.154465163T>A | CA342628364 | IL6R | c.1190T>A (p.Leu397Gln) c.1096T>A (p.Ter366Arg) n.503T>A n.388T>A c.954T>A (p.Ser318=) c.*31T>A (n.*31T>A) c.1238T>A (p.Leu413Gln) c.1144T>A (p.Ter382Arg) c.1337T>A (p.Leu446Gln) c.1289T>A (p.Leu430Gln) c.1283T>A (p.Leu428Gln) c.1184T>A (p.Leu395Gln) c.830T>A (p.Leu277Gln) | |
| 1 | g.154465163T>C | CA342628366 | IL6R | c.1190T>C (p.Leu397Pro) c.1096T>C (p.Ter366Arg) n.503T>C n.388T>C c.954T>C (p.Ser318=) c.*31T>C (n.*31T>C) c.1238T>C (p.Leu413Pro) c.1144T>C (p.Ter382Arg) c.1337T>C (p.Leu446Pro) c.1289T>C (p.Leu430Pro) c.1283T>C (p.Leu428Pro) c.1184T>C (p.Leu395Pro) c.830T>C (p.Leu277Pro) | |
| 1 | g.154465163T>G | CA342628368 | IL6R | c.1190T>G (p.Leu397Arg) c.1096T>G (p.Ter366Gly) n.503T>G n.388T>G c.954T>G (p.Ser318=) c.*31T>G (n.*31T>G) c.1238T>G (p.Leu413Arg) c.1144T>G (p.Ter382Gly) c.1337T>G (p.Leu446Arg) c.1289T>G (p.Leu430Arg) c.1283T>G (p.Leu428Arg) c.1184T>G (p.Leu395Arg) c.830T>G (p.Leu277Arg) | |
| 1 | g.154465164G>A | CA420975852 | IL6R | c.1191G>A (p.Leu397=) c.1097G>A (p.Ter366=) n.504G>A n.389G>A c.955G>A (p.Glu319Lys) c.*32G>A (n.*32G>A) c.1239G>A (p.Leu413=) c.1145G>A (p.Ter382=) c.1338G>A (p.Leu446=) c.1290G>A (p.Leu430=) c.1284G>A (p.Leu428=) c.1185G>A (p.Leu395=) c.831G>A (p.Leu277=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.154465164G>C | CA342628370 | IL6R | c.1191G>C (p.Leu397=) c.1097G>C (p.Ter366Ser) n.504G>C n.389G>C c.955G>C (p.Glu319Gln) c.*32G>C (n.*32G>C) c.1239G>C (p.Leu413=) c.1145G>C (p.Ter382Ser) c.1338G>C (p.Leu446=) c.1290G>C (p.Leu430=) c.1284G>C (p.Leu428=) c.1185G>C (p.Leu395=) c.831G>C (p.Leu277=) | |
| 1 | g.154465164G= | CA2480880262 | IL6R | c.1191G= (p.Leu397=) c.1097G= (p.Ter366=) n.504G= n.389G= c.955G= (p.Glu319=) c.*32G= (n.*32G=) c.1239G= (p.Leu413=) c.1145G= (p.Ter382=) c.1338G= (p.Leu446=) c.1290G= (p.Leu430=) c.1284G= (p.Leu428=) c.1185G= (p.Leu395=) c.831G= (p.Leu277=) | |
| 1 | g.154465164G>T | CA342628371 | IL6R | c.1191G>T (p.Leu397=) c.1097G>T (p.Ter366Leu) n.504G>T n.389G>T c.955G>T (p.Glu319Ter) c.*32G>T (n.*32G>T) c.1239G>T (p.Leu413=) c.1145G>T (p.Ter382Leu) c.1338G>T (p.Leu446=) c.1290G>T (p.Leu430=) c.1284G>T (p.Leu428=) c.1185G>T (p.Leu395=) c.831G>T (p.Leu277=) | |
| 1 | g.154465165_154465167del | CA2697500754 | IL6R | c.1192_1194del (p.Lys398del) c.1098_*2del (n.[c.1098_*2del;Ter366TrpextTer?]) n.505_507del n.390_392del c.956_958del (p.Glu319del) c.*33_*35del (n.*33_*35del) c.1240_1242del (p.Lys414del) c.1146_*2del (n.[c.1146_*2del;Ter382TrpextTer?]) c.1339_1341del (p.Lys447del) c.1291_1293del (p.Lys431del) c.1285_1287del (p.Lys429del) c.1186_1188del (p.Lys396del) c.832_834del (p.Lys278del) | dbSNP |
| 1 | g.154465165A>C | CA342628372 | IL6R | c.1192A>C (p.Lys398Gln) c.1098A>C (p.Ter366Cys) n.505A>C n.390A>C c.956A>C (p.Glu319Ala) c.*33A>C (n.*33A>C) c.1240A>C (p.Lys414Gln) c.1146A>C (p.Ter382Cys) c.1339A>C (p.Lys447Gln) c.1291A>C (p.Lys431Gln) c.1285A>C (p.Lys429Gln) c.1186A>C (p.Lys396Gln) c.832A>C (p.Lys278Gln) | |
| 1 | g.154465165A>G | CA342628375 | IL6R | c.1192A>G (p.Lys398Glu) c.1098A>G (p.Ter366Trp) n.505A>G n.390A>G c.956A>G (p.Glu319Gly) c.*33A>G (n.*33A>G) c.1240A>G (p.Lys414Glu) c.1146A>G (p.Ter382Trp) c.1339A>G (p.Lys447Glu) c.1291A>G (p.Lys431Glu) c.1285A>G (p.Lys429Glu) c.1186A>G (p.Lys396Glu) c.832A>G (p.Lys278Glu) | |
| 1 | g.154465165A>T | CA342628377 | IL6R | c.1192A>T (p.Lys398Ter) c.1098A>T (p.Ter366Cys) n.505A>T n.390A>T c.956A>T (p.Glu319Val) c.*33A>T (n.*33A>T) c.1240A>T (p.Lys414Ter) c.1146A>T (p.Ter382Cys) c.1339A>T (p.Lys447Ter) c.1291A>T (p.Lys431Ter) c.1285A>T (p.Lys429Ter) c.1186A>T (p.Lys396Ter) c.832A>T (p.Lys278Ter) | |
| 1 | g.154465166A>C | CA342628379 | IL6R | c.1193A>C (p.Lys398Thr) c.*1A>C (n.*1A>C) n.506A>C n.391A>C c.957A>C (p.Glu319Asp) c.*34A>C (n.*34A>C) c.1241A>C (p.Lys414Thr) c.1340A>C (p.Lys447Thr) c.1292A>C (p.Lys431Thr) c.1286A>C (p.Lys429Thr) c.1187A>C (p.Lys396Thr) c.833A>C (p.Lys278Thr) | |
| 1 | g.154465166A>G | CA342628381 | IL6R | c.1193A>G (p.Lys398Arg) c.*1A>G (n.*1A>G) n.506A>G n.391A>G c.957A>G (p.Glu319=) c.*34A>G (n.*34A>G) c.1241A>G (p.Lys414Arg) c.1340A>G (p.Lys447Arg) c.1292A>G (p.Lys431Arg) c.1286A>G (p.Lys429Arg) c.1187A>G (p.Lys396Arg) c.833A>G (p.Lys278Arg) | |
| 1 | g.154465166A>T | CA342628382 | IL6R | c.1193A>T (p.Lys398Met) c.*1A>T (n.*1A>T) n.506A>T n.391A>T c.957A>T (p.Glu319Asp) c.*34A>T (n.*34A>T) c.1241A>T (p.Lys414Met) c.1340A>T (p.Lys447Met) c.1292A>T (p.Lys431Met) c.1286A>T (p.Lys429Met) c.1187A>T (p.Lys396Met) c.833A>T (p.Lys278Met) | |
| 1 | g.154465167G>A | CA420975854 | IL6R | c.1194G>A (p.Lys398=) c.*2G>A (n.*2G>A) n.507G>A n.392G>A c.958G>A (p.Gly320Arg) c.*35G>A (n.*35G>A) c.1242G>A (p.Lys414=) c.1341G>A (p.Lys447=) c.1293G>A (p.Lys431=) c.1287G>A (p.Lys429=) c.1188G>A (p.Lys396=) c.834G>A (p.Lys278=) | gnomAD v4 |
| 1 | g.154465167G>C | CA342628383 | IL6R | c.1194G>C (p.Lys398Asn) c.*2G>C (n.*2G>C) n.507G>C n.392G>C c.958G>C (p.Gly320Arg) c.*35G>C (n.*35G>C) c.1242G>C (p.Lys414Asn) c.1341G>C (p.Lys447Asn) c.1293G>C (p.Lys431Asn) c.1287G>C (p.Lys429Asn) c.1188G>C (p.Lys396Asn) c.834G>C (p.Lys278Asn) | |
| 1 | g.154465167G>T | CA342628384 | IL6R | c.1194G>T (p.Lys398Asn) c.*2G>T (n.*2G>T) n.507G>T n.392G>T c.958G>T (p.Gly320Ter) c.*35G>T (n.*35G>T) c.1242G>T (p.Lys414Asn) c.1341G>T (p.Lys447Asn) c.1293G>T (p.Lys431Asn) c.1287G>T (p.Lys429Asn) c.1188G>T (p.Lys396Asn) c.834G>T (p.Lys278Asn) | |
| 1 | g.154465168G>A | CA342628386 | IL6R | c.1195G>A (p.Glu399Lys) c.*3G>A (n.*3G>A) n.508G>A n.393G>A c.959G>A (p.Gly320Glu) c.*36G>A (n.*36G>A) c.1243G>A (p.Glu415Lys) c.1342G>A (p.Glu448Lys) c.1294G>A (p.Glu432Lys) c.1288G>A (p.Glu430Lys) c.1189G>A (p.Glu397Lys) c.835G>A (p.Glu279Lys) | |
| 1 | g.154465168G>C | CA1129318 | IL6R | c.1195G>C (p.Glu399Gln) c.*3G>C (n.*3G>C) n.508G>C n.393G>C c.959G>C (p.Gly320Ala) c.*36G>C (n.*36G>C) c.1243G>C (p.Glu415Gln) c.1342G>C (p.Glu448Gln) c.1294G>C (p.Glu432Gln) c.1288G>C (p.Glu430Gln) c.1189G>C (p.Glu397Gln) c.835G>C (p.Glu279Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.154465168G= | CA2480880263 | IL6R | c.1195G= (p.Glu399=) c.*3G= (n.*3G=) n.508G= n.393G= c.959G= (p.Gly320=) c.*36G= (n.*36G=) c.1243G= (p.Glu415=) c.1342G= (p.Glu448=) c.1294G= (p.Glu432=) c.1288G= (p.Glu430=) c.1189G= (p.Glu397=) c.835G= (p.Glu279=) | |
| 1 | g.154465168G>T | CA342628385 | IL6R | c.1195G>T (p.Glu399Ter) c.*3G>T (n.*3G>T) n.508G>T n.393G>T c.959G>T (p.Gly320Val) c.*36G>T (n.*36G>T) c.1243G>T (p.Glu415Ter) c.1342G>T (p.Glu448Ter) c.1294G>T (p.Glu432Ter) c.1288G>T (p.Glu430Ter) c.1189G>T (p.Glu397Ter) c.835G>T (p.Glu279Ter) | |
| 1 | g.154465169A>C | CA342628387 | IL6R | c.1196A>C (p.Glu399Ala) c.*4A>C (n.*4A>C) n.509A>C n.394A>C c.960A>C (p.Gly320=) c.*37A>C (n.*37A>C) c.1244A>C (p.Glu415Ala) c.1343A>C (p.Glu448Ala) c.1295A>C (p.Glu432Ala) c.1289A>C (p.Glu430Ala) c.1190A>C (p.Glu397Ala) c.836A>C (p.Glu279Ala) | |
| 1 | g.154465169A>G | CA342628389 | IL6R | c.1196A>G (p.Glu399Gly) c.*4A>G (n.*4A>G) n.509A>G n.394A>G c.960A>G (p.Gly320=) c.*37A>G (n.*37A>G) c.1244A>G (p.Glu415Gly) c.1343A>G (p.Glu448Gly) c.1295A>G (p.Glu432Gly) c.1289A>G (p.Glu430Gly) c.1190A>G (p.Glu397Gly) c.836A>G (p.Glu279Gly) | |
| 1 | g.154465169A>T | CA342628390 | IL6R | c.1196A>T (p.Glu399Val) c.*4A>T (n.*4A>T) n.509A>T n.394A>T c.960A>T (p.Gly320=) c.*37A>T (n.*37A>T) c.1244A>T (p.Glu415Val) c.1343A>T (p.Glu448Val) c.1295A>T (p.Glu432Val) c.1289A>T (p.Glu430Val) c.1190A>T (p.Glu397Val) c.836A>T (p.Glu279Val) | |
| 1 | g.154465170A= | CA2480880264 | IL6R | c.1197A= (p.Glu399=) c.*5A= (n.*5A=) n.510A= n.395A= c.961A= (p.Arg321=) c.*38A= (n.*38A=) c.1245A= (p.Glu415=) c.1344A= (p.Glu448=) c.1296A= (p.Glu432=) c.1290A= (p.Glu430=) c.1191A= (p.Glu397=) c.837A= (p.Glu279=) | |
| 1 | g.154465170A>C | CA342628391 | IL6R | c.1197A>C (p.Glu399Asp) c.*5A>C (n.*5A>C) n.510A>C n.395A>C c.961A>C (p.Arg321=) c.*38A>C (n.*38A>C) c.1245A>C (p.Glu415Asp) c.1344A>C (p.Glu448Asp) c.1296A>C (p.Glu432Asp) c.1290A>C (p.Glu430Asp) c.1191A>C (p.Glu397Asp) c.837A>C (p.Glu279Asp) | |
| 1 | g.154465170A>G | CA420975855 | IL6R | c.1197A>G (p.Glu399=) c.*5A>G (n.*5A>G) n.510A>G n.395A>G c.961A>G (p.Arg321Gly) c.*38A>G (n.*38A>G) c.1245A>G (p.Glu415=) c.1344A>G (p.Glu448=) c.1296A>G (p.Glu432=) c.1290A>G (p.Glu430=) c.1191A>G (p.Glu397=) c.837A>G (p.Glu279=) | dbSNP gnomAD v4 |
| 1 | g.154465170A>T | CA342628392 | IL6R | c.1197A>T (p.Glu399Asp) c.*5A>T (n.*5A>T) n.510A>T n.395A>T c.961A>T (p.Arg321Trp) c.*38A>T (n.*38A>T) c.1245A>T (p.Glu415Asp) c.1344A>T (p.Glu448Asp) c.1296A>T (p.Glu432Asp) c.1290A>T (p.Glu430Asp) c.1191A>T (p.Glu397Asp) c.837A>T (p.Glu279Asp) | COSMIC |
| 1 | g.154465171G>A | CA342628398 | IL6R | c.1198G>A (p.Gly400Ser) c.*6G>A (n.*6G>A) n.511G>A n.396G>A c.962G>A (p.Arg321Lys) c.*39G>A (n.*39G>A) c.1246G>A (p.Gly416Ser) c.1345G>A (p.Gly449Ser) c.1297G>A (p.Gly433Ser) c.1291G>A (p.Gly431Ser) c.1192G>A (p.Gly398Ser) c.838G>A (p.Gly280Ser) | |
| 1 | g.154465171G>C | CA342628397 | IL6R | c.1198G>C (p.Gly400Arg) c.*6G>C (n.*6G>C) n.511G>C n.396G>C c.962G>C (p.Arg321Thr) c.*39G>C (n.*39G>C) c.1246G>C (p.Gly416Arg) c.1345G>C (p.Gly449Arg) c.1297G>C (p.Gly433Arg) c.1291G>C (p.Gly431Arg) c.1192G>C (p.Gly398Arg) c.838G>C (p.Gly280Arg) | |
| 1 | g.154465171G>T | CA342628395 | IL6R | c.1198G>T (p.Gly400Cys) c.*6G>T (n.*6G>T) n.511G>T n.396G>T c.962G>T (p.Arg321Met) c.*39G>T (n.*39G>T) c.1246G>T (p.Gly416Cys) c.1345G>T (p.Gly449Cys) c.1297G>T (p.Gly433Cys) c.1291G>T (p.Gly431Cys) c.1192G>T (p.Gly398Cys) c.838G>T (p.Gly280Cys) | |
| 1 | g.154465172G>A | CA342628401 | IL6R | c.1199G>A (p.Gly400Asp) c.*7G>A (n.*7G>A) n.512G>A n.397G>A c.963G>A (p.Arg321=) c.*40G>A (n.*40G>A) c.1247G>A (p.Gly416Asp) c.1346G>A (p.Gly449Asp) c.1298G>A (p.Gly433Asp) c.1292G>A (p.Gly431Asp) c.1193G>A (p.Gly398Asp) c.839G>A (p.Gly280Asp) | |
| 1 | g.154465172G>C | CA342628403 | IL6R | c.1199G>C (p.Gly400Ala) c.*7G>C (n.*7G>C) n.512G>C n.397G>C c.963G>C (p.Arg321Ser) c.*40G>C (n.*40G>C) c.1247G>C (p.Gly416Ala) c.1346G>C (p.Gly449Ala) c.1298G>C (p.Gly433Ala) c.1292G>C (p.Gly431Ala) c.1193G>C (p.Gly398Ala) c.839G>C (p.Gly280Ala) | |
| 1 | g.154465172G>T | CA342628404 | IL6R | c.1199G>T (p.Gly400Val) c.*7G>T (n.*7G>T) n.512G>T n.397G>T c.963G>T (p.Arg321Ser) c.*40G>T (n.*40G>T) c.1247G>T (p.Gly416Val) c.1346G>T (p.Gly449Val) c.1298G>T (p.Gly433Val) c.1292G>T (p.Gly431Val) c.1193G>T (p.Gly398Val) c.839G>T (p.Gly280Val) | |
| 1 | g.154465173C>A | CA420975859 | IL6R | c.1200C>A (p.Gly400=) c.*8C>A (n.*8C>A) n.513C>A n.398C>A c.964C>A (p.Gln322Lys) c.*41C>A (n.*41C>A) c.1248C>A (p.Gly416=) c.1347C>A (p.Gly449=) c.1299C>A (p.Gly433=) c.1293C>A (p.Gly431=) c.1194C>A (p.Gly398=) c.840C>A (p.Gly280=) | |
| 1 | g.154465173C= | CA2480880265 | IL6R | c.1200C= (p.Gly400=) c.*8C= (n.*8C=) n.513C= n.398C= c.964C= (p.Gln322=) c.*41C= (n.*41C=) c.1248C= (p.Gly416=) c.1347C= (p.Gly449=) c.1299C= (p.Gly433=) c.1293C= (p.Gly431=) c.1194C= (p.Gly398=) c.840C= (p.Gly280=) | |
| 1 | g.154465173C>G | CA420975860 | IL6R | c.1200C>G (p.Gly400=) c.*8C>G (n.*8C>G) n.513C>G n.398C>G c.964C>G (p.Gln322Glu) c.*41C>G (n.*41C>G) c.1248C>G (p.Gly416=) c.1347C>G (p.Gly449=) c.1299C>G (p.Gly433=) c.1293C>G (p.Gly431=) c.1194C>G (p.Gly398=) c.840C>G (p.Gly280=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465173C>T | CA30816329 | IL6R | c.1200C>T (p.Gly400=) c.*8C>T (n.*8C>T) n.513C>T n.398C>T c.964C>T (p.Gln322Ter) c.*41C>T (n.*41C>T) c.1248C>T (p.Gly416=) c.1347C>T (p.Gly449=) c.1299C>T (p.Gly433=) c.1293C>T (p.Gly431=) c.1194C>T (p.Gly398=) c.840C>T (p.Gly280=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.154465174A= | CA2480880266 | IL6R | c.1201A= (p.Lys401=) c.*9A= (n.*9A=) n.514A= n.399A= c.965A= (p.Gln322=) c.*42A= (n.*42A=) c.1249A= (p.Lys417=) c.1348A= (p.Lys450=) c.1300A= (p.Lys434=) c.1294A= (p.Lys432=) c.1195A= (p.Lys399=) c.841A= (p.Lys281=) | |
| 1 | g.154465174A>C | CA342628405 | IL6R | c.1201A>C (p.Lys401Gln) c.*9A>C (n.*9A>C) n.514A>C n.399A>C c.965A>C (p.Gln322Pro) c.*42A>C (n.*42A>C) c.1249A>C (p.Lys417Gln) c.1348A>C (p.Lys450Gln) c.1300A>C (p.Lys434Gln) c.1294A>C (p.Lys432Gln) c.1195A>C (p.Lys399Gln) c.841A>C (p.Lys281Gln) | |
| 1 | g.154465174A>G | CA342628406 | IL6R | c.1201A>G (p.Lys401Glu) c.*9A>G (n.*9A>G) n.514A>G n.399A>G c.965A>G (p.Gln322Arg) c.*42A>G (n.*42A>G) c.1249A>G (p.Lys417Glu) c.1348A>G (p.Lys450Glu) c.1300A>G (p.Lys434Glu) c.1294A>G (p.Lys432Glu) c.1195A>G (p.Lys399Glu) c.841A>G (p.Lys281Glu) | dbSNP |
| 1 | g.154465174A>T | CA342628407 | IL6R | c.1201A>T (p.Lys401Ter) c.*9A>T (n.*9A>T) n.514A>T n.399A>T c.965A>T (p.Gln322Leu) c.*42A>T (n.*42A>T) c.1249A>T (p.Lys417Ter) c.1348A>T (p.Lys450Ter) c.1300A>T (p.Lys434Ter) c.1294A>T (p.Lys432Ter) c.1195A>T (p.Lys399Ter) c.841A>T (p.Lys281Ter) | |
| 1 | g.154465175A= | CA2480880267 | IL6R | c.1202A= (p.Lys401=) c.*10A= (n.*10A=) n.515A= n.400A= c.966A= (p.Gln322=) c.*43A= (n.*43A=) c.1250A= (p.Lys417=) c.1349A= (p.Lys450=) c.1301A= (p.Lys434=) c.1295A= (p.Lys432=) c.1196A= (p.Lys399=) c.842A= (p.Lys281=) | |
| 1 | g.154465175A>C | CA342628408 | IL6R | c.1202A>C (p.Lys401Thr) c.*10A>C (n.*10A>C) n.515A>C n.400A>C c.966A>C (p.Gln322His) c.*43A>C (n.*43A>C) c.1250A>C (p.Lys417Thr) c.1349A>C (p.Lys450Thr) c.1301A>C (p.Lys434Thr) c.1295A>C (p.Lys432Thr) c.1196A>C (p.Lys399Thr) c.842A>C (p.Lys281Thr) | dbSNP gnomAD v2 |
| 1 | g.154465175A>G | CA342628410 | IL6R | c.1202A>G (p.Lys401Arg) c.*10A>G (n.*10A>G) n.515A>G n.400A>G c.966A>G (p.Gln322=) c.*43A>G (n.*43A>G) c.1250A>G (p.Lys417Arg) c.1349A>G (p.Lys450Arg) c.1301A>G (p.Lys434Arg) c.1295A>G (p.Lys432Arg) c.1196A>G (p.Lys399Arg) c.842A>G (p.Lys281Arg) | |
| 1 | g.154465175A>T | CA342628409 | IL6R | c.1202A>T (p.Lys401Met) c.*10A>T (n.*10A>T) n.515A>T n.400A>T c.966A>T (p.Gln322His) c.*43A>T (n.*43A>T) c.1250A>T (p.Lys417Met) c.1349A>T (p.Lys450Met) c.1301A>T (p.Lys434Met) c.1295A>T (p.Lys432Met) c.1196A>T (p.Lys399Met) c.842A>T (p.Lys281Met) | |
| 1 | g.154465176G>A | CA420975864 | IL6R | c.1203G>A (p.Lys401=) c.*11G>A (n.*11G>A) n.516G>A n.401G>A c.967G>A (p.Asp323Asn) c.*44G>A (n.*44G>A) c.1251G>A (p.Lys417=) c.1350G>A (p.Lys450=) c.1302G>A (p.Lys434=) c.1296G>A (p.Lys432=) c.1197G>A (p.Lys399=) c.843G>A (p.Lys281=) | |
| 1 | g.154465176G>C | CA342628411 | IL6R | c.1203G>C (p.Lys401Asn) c.*11G>C (n.*11G>C) n.516G>C n.401G>C c.967G>C (p.Asp323His) c.*44G>C (n.*44G>C) c.1251G>C (p.Lys417Asn) c.1350G>C (p.Lys450Asn) c.1302G>C (p.Lys434Asn) c.1296G>C (p.Lys432Asn) c.1197G>C (p.Lys399Asn) c.843G>C (p.Lys281Asn) | |
| 1 | g.154465176G>T | CA342628412 | IL6R | c.1203G>T (p.Lys401Asn) c.*11G>T (n.*11G>T) n.516G>T n.401G>T c.967G>T (p.Asp323Tyr) c.*44G>T (n.*44G>T) c.1251G>T (p.Lys417Asn) c.1350G>T (p.Lys450Asn) c.1302G>T (p.Lys434Asn) c.1296G>T (p.Lys432Asn) c.1197G>T (p.Lys399Asn) c.843G>T (p.Lys281Asn) | |
| 1 | g.154465177A>C | CA342628413 | IL6R | c.1204A>C (p.Thr402Pro) c.*12A>C (n.*12A>C) n.517A>C n.402A>C c.968A>C (p.Asp323Ala) c.*45A>C (n.*45A>C) c.1252A>C (p.Thr418Pro) c.1351A>C (p.Thr451Pro) c.1303A>C (p.Thr435Pro) c.1297A>C (p.Thr433Pro) c.1198A>C (p.Thr400Pro) c.844A>C (p.Thr282Pro) | |
| 1 | g.154465177A>G | CA342628414 | IL6R | c.1204A>G (p.Thr402Ala) c.*12A>G (n.*12A>G) n.517A>G n.402A>G c.968A>G (p.Asp323Gly) c.*45A>G (n.*45A>G) c.1252A>G (p.Thr418Ala) c.1351A>G (p.Thr451Ala) c.1303A>G (p.Thr435Ala) c.1297A>G (p.Thr433Ala) c.1198A>G (p.Thr400Ala) c.844A>G (p.Thr282Ala) | |
| 1 | g.154465177A>T | CA342628415 | IL6R | c.1204A>T (p.Thr402Ser) c.*12A>T (n.*12A>T) n.517A>T n.402A>T c.968A>T (p.Asp323Val) c.*45A>T (n.*45A>T) c.1252A>T (p.Thr418Ser) c.1351A>T (p.Thr451Ser) c.1303A>T (p.Thr435Ser) c.1297A>T (p.Thr433Ser) c.1198A>T (p.Thr400Ser) c.844A>T (p.Thr282Ser) | |
| 1 | g.154465178C>A | CA342628416 | IL6R | c.1205C>A (p.Thr402Lys) c.*13C>A (n.*13C>A) n.518C>A n.403C>A c.969C>A (p.Asp323Glu) c.*46C>A (n.*46C>A) c.1253C>A (p.Thr418Lys) c.1352C>A (p.Thr451Lys) c.1304C>A (p.Thr435Lys) c.1298C>A (p.Thr433Lys) c.1199C>A (p.Thr400Lys) c.845C>A (p.Thr282Lys) | |
| 1 | g.154465178C= | CA2480880268 | IL6R | c.1205C= (p.Thr402=) c.*13C= (n.*13C=) n.518C= n.403C= c.969C= (p.Asp323=) c.*46C= (n.*46C=) c.1253C= (p.Thr418=) c.1352C= (p.Thr451=) c.1304C= (p.Thr435=) c.1298C= (p.Thr433=) c.1199C= (p.Thr400=) c.845C= (p.Thr282=) | |
| 1 | g.154465178C>G | CA1129319 | IL6R | c.1205C>G (p.Thr402Arg) c.*13C>G (n.*13C>G) n.518C>G n.403C>G c.969C>G (p.Asp323Glu) c.*46C>G (n.*46C>G) c.1253C>G (p.Thr418Arg) c.1352C>G (p.Thr451Arg) c.1304C>G (p.Thr435Arg) c.1298C>G (p.Thr433Arg) c.1199C>G (p.Thr400Arg) c.845C>G (p.Thr282Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.154465178C>T | CA342628417 | IL6R | c.1205C>T (p.Thr402Ile) c.*13C>T (n.*13C>T) n.518C>T n.403C>T c.969C>T (p.Asp323=) c.*46C>T (n.*46C>T) c.1253C>T (p.Thr418Ile) c.1352C>T (p.Thr451Ile) c.1304C>T (p.Thr435Ile) c.1298C>T (p.Thr433Ile) c.1199C>T (p.Thr400Ile) c.845C>T (p.Thr282Ile) | gnomAD v4 |
| 1 | g.154465179A= | CA2480880269 | IL6R | c.1206A= (p.Thr402=) c.*14A= (n.*14A=) n.519A= n.404A= c.970A= (p.Lys324=) c.*47A= (n.*47A=) c.1254A= (p.Thr418=) c.1353A= (p.Thr451=) c.1305A= (p.Thr435=) c.1299A= (p.Thr433=) c.1200A= (p.Thr400=) c.846A= (p.Thr282=) | |
| 1 | g.154465179A>C | CA420975866 | IL6R | c.1206A>C (p.Thr402=) c.*14A>C (n.*14A>C) n.519A>C n.404A>C c.970A>C (p.Lys324Gln) c.*47A>C (n.*47A>C) c.1254A>C (p.Thr418=) c.1353A>C (p.Thr451=) c.1305A>C (p.Thr435=) c.1299A>C (p.Thr433=) c.1200A>C (p.Thr400=) c.846A>C (p.Thr282=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465179A>G | CA420975867 | IL6R | c.1206A>G (p.Thr402=) c.*14A>G (n.*14A>G) n.519A>G n.404A>G c.970A>G (p.Lys324Glu) c.*47A>G (n.*47A>G) c.1254A>G (p.Thr418=) c.1353A>G (p.Thr451=) c.1305A>G (p.Thr435=) c.1299A>G (p.Thr433=) c.1200A>G (p.Thr400=) c.846A>G (p.Thr282=) | |
| 1 | g.154465179A>T | CA420975868 | IL6R | c.1206A>T (p.Thr402=) c.*14A>T (n.*14A>T) n.519A>T n.404A>T c.970A>T (p.Lys324Ter) c.*47A>T (n.*47A>T) c.1254A>T (p.Thr418=) c.1353A>T (p.Thr451=) c.1305A>T (p.Thr435=) c.1299A>T (p.Thr433=) c.1200A>T (p.Thr400=) c.846A>T (p.Thr282=) | |
| 1 | g.154465180A= | CA2480880270 | IL6R | c.1207A= (p.Ser403=) c.*15A= (n.*15A=) n.520A= n.405A= c.971A= (p.Lys324=) c.*48A= (n.*48A=) c.1255A= (p.Ser419=) c.1354A= (p.Ser452=) c.1306A= (p.Ser436=) c.1300A= (p.Ser434=) c.1201A= (p.Ser401=) c.847A= (p.Ser283=) | |
| 1 | g.154465180A>C | CA342628418 | IL6R | c.1207A>C (p.Ser403Arg) c.*15A>C (n.*15A>C) n.520A>C n.405A>C c.971A>C (p.Lys324Thr) c.*48A>C (n.*48A>C) c.1255A>C (p.Ser419Arg) c.1354A>C (p.Ser452Arg) c.1306A>C (p.Ser436Arg) c.1300A>C (p.Ser434Arg) c.1201A>C (p.Ser401Arg) c.847A>C (p.Ser283Arg) | |
| 1 | g.154465180A>G | CA1129320 | IL6R | c.1207A>G (p.Ser403Gly) c.*15A>G (n.*15A>G) n.520A>G n.405A>G c.971A>G (p.Lys324Arg) c.*48A>G (n.*48A>G) c.1255A>G (p.Ser419Gly) c.1354A>G (p.Ser452Gly) c.1306A>G (p.Ser436Gly) c.1300A>G (p.Ser434Gly) c.1201A>G (p.Ser401Gly) c.847A>G (p.Ser283Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.154465180A>T | CA342628419 | IL6R | c.1207A>T (p.Ser403Cys) c.*15A>T (n.*15A>T) n.520A>T n.405A>T c.971A>T (p.Lys324Met) c.*48A>T (n.*48A>T) c.1255A>T (p.Ser419Cys) c.1354A>T (p.Ser452Cys) c.1306A>T (p.Ser436Cys) c.1300A>T (p.Ser434Cys) c.1201A>T (p.Ser401Cys) c.847A>T (p.Ser283Cys) | |
| 1 | g.154465181G>A | CA342628422 | IL6R | c.1208G>A (p.Ser403Asn) c.*16G>A (n.*16G>A) n.521G>A n.406G>A c.972G>A (p.Lys324=) c.*49G>A (n.*49G>A) c.1256G>A (p.Ser419Asn) c.1355G>A (p.Ser452Asn) c.1307G>A (p.Ser436Asn) c.1301G>A (p.Ser434Asn) c.1202G>A (p.Ser401Asn) c.848G>A (p.Ser283Asn) | |
| 1 | g.154465181G>C | CA342628420 | IL6R | c.1208G>C (p.Ser403Thr) c.*16G>C (n.*16G>C) n.521G>C n.406G>C c.972G>C (p.Lys324Asn) c.*49G>C (n.*49G>C) c.1256G>C (p.Ser419Thr) c.1355G>C (p.Ser452Thr) c.1307G>C (p.Ser436Thr) c.1301G>C (p.Ser434Thr) c.1202G>C (p.Ser401Thr) c.848G>C (p.Ser283Thr) | |
| 1 | g.154465181G>T | CA342628421 | IL6R | c.1208G>T (p.Ser403Ile) c.*16G>T (n.*16G>T) n.521G>T n.406G>T c.972G>T (p.Lys324Asn) c.*49G>T (n.*49G>T) c.1256G>T (p.Ser419Ile) c.1355G>T (p.Ser452Ile) c.1307G>T (p.Ser436Ile) c.1301G>T (p.Ser434Ile) c.1202G>T (p.Ser401Ile) c.848G>T (p.Ser283Ile) | |
| 1 | g.154465182C>A | CA342628423 | IL6R | c.1209C>A (p.Ser403Arg) c.*17C>A (n.*17C>A) n.522C>A n.407C>A c.973C>A (p.His325Asn) c.*50C>A (n.*50C>A) c.1257C>A (p.Ser419Arg) c.1356C>A (p.Ser452Arg) c.1308C>A (p.Ser436Arg) c.1302C>A (p.Ser434Arg) c.1203C>A (p.Ser401Arg) c.849C>A (p.Ser283Arg) | |
| 1 | g.154465182C= | CA2480880271 | IL6R | c.1209C= (p.Ser403=) c.*17C= (n.*17C=) n.522C= n.407C= c.973C= (p.His325=) c.*50C= (n.*50C=) c.1257C= (p.Ser419=) c.1356C= (p.Ser452=) c.1308C= (p.Ser436=) c.1302C= (p.Ser434=) c.1203C= (p.Ser401=) c.849C= (p.Ser283=) | |
| 1 | g.154465182C>G | CA342628424 | IL6R | c.1209C>G (p.Ser403Arg) c.*17C>G (n.*17C>G) n.522C>G n.407C>G c.973C>G (p.His325Asp) c.*50C>G (n.*50C>G) c.1257C>G (p.Ser419Arg) c.1356C>G (p.Ser452Arg) c.1308C>G (p.Ser436Arg) c.1302C>G (p.Ser434Arg) c.1203C>G (p.Ser401Arg) c.849C>G (p.Ser283Arg) | |
| 1 | g.154465182C>T | CA420975870 | IL6R | c.1209C>T (p.Ser403=) c.*17C>T (n.*17C>T) n.522C>T n.407C>T c.973C>T (p.His325Tyr) c.*50C>T (n.*50C>T) c.1257C>T (p.Ser419=) c.1356C>T (p.Ser452=) c.1308C>T (p.Ser436=) c.1302C>T (p.Ser434=) c.1203C>T (p.Ser401=) c.849C>T (p.Ser283=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.154465183A= | CA2480880272 | IL6R | c.1210A= (p.Met404=) c.*18A= (n.*18A=) n.523A= n.408A= c.974A= (p.His325=) c.*51A= (n.*51A=) c.1258A= (p.Met420=) c.1357A= (p.Met453=) c.1309A= (p.Met437=) c.1303A= (p.Met435=) c.1204A= (p.Met402=) c.850A= (p.Met284=) | |
| 1 | g.154465183A>C | CA342628425 | IL6R | c.1210A>C (p.Met404Leu) c.*18A>C (n.*18A>C) n.523A>C n.408A>C c.974A>C (p.His325Pro) c.*51A>C (n.*51A>C) c.1258A>C (p.Met420Leu) c.1357A>C (p.Met453Leu) c.1309A>C (p.Met437Leu) c.1303A>C (p.Met435Leu) c.1204A>C (p.Met402Leu) c.850A>C (p.Met284Leu) | |
| 1 | g.154465183A>G | CA342628426 | IL6R | c.1210A>G (p.Met404Val) c.*18A>G (n.*18A>G) n.523A>G n.408A>G c.974A>G (p.His325Arg) c.*51A>G (n.*51A>G) c.1258A>G (p.Met420Val) c.1357A>G (p.Met453Val) c.1309A>G (p.Met437Val) c.1303A>G (p.Met435Val) c.1204A>G (p.Met402Val) c.850A>G (p.Met284Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.154465183A>T | CA342628427 | IL6R | c.1210A>T (p.Met404Leu) c.*18A>T (n.*18A>T) n.523A>T n.408A>T c.974A>T (p.His325Leu) c.*51A>T (n.*51A>T) c.1258A>T (p.Met420Leu) c.1357A>T (p.Met453Leu) c.1309A>T (p.Met437Leu) c.1303A>T (p.Met435Leu) c.1204A>T (p.Met402Leu) c.850A>T (p.Met284Leu) | |
| 1 | g.154465184T>A | CA342628428 | IL6R | c.1211T>A (p.Met404Lys) c.*19T>A (n.*19T>A) n.524T>A n.409T>A c.975T>A (p.His325Gln) c.*52T>A (n.*52T>A) c.1259T>A (p.Met420Lys) c.1358T>A (p.Met453Lys) c.1310T>A (p.Met437Lys) c.1304T>A (p.Met435Lys) c.1205T>A (p.Met402Lys) c.851T>A (p.Met284Lys) | |
| 1 | g.154465184T>C | CA342628429 | IL6R | c.1211T>C (p.Met404Thr) c.*19T>C (n.*19T>C) n.524T>C n.409T>C c.975T>C (p.His325=) c.*52T>C (n.*52T>C) c.1259T>C (p.Met420Thr) c.1358T>C (p.Met453Thr) c.1310T>C (p.Met437Thr) c.1304T>C (p.Met435Thr) c.1205T>C (p.Met402Thr) c.851T>C (p.Met284Thr) | |
| 1 | g.154465184T>G | CA342628430 | IL6R | c.1211T>G (p.Met404Arg) c.*19T>G (n.*19T>G) n.524T>G n.409T>G c.975T>G (p.His325Gln) c.*52T>G (n.*52T>G) c.1259T>G (p.Met420Arg) c.1358T>G (p.Met453Arg) c.1310T>G (p.Met437Arg) c.1304T>G (p.Met435Arg) c.1205T>G (p.Met402Arg) c.851T>G (p.Met284Arg) | |
| 1 | g.154465185G>A | CA342628431 | IL6R | c.1212G>A (p.Met404Ile) c.*20G>A (n.*20G>A) n.525G>A n.410G>A c.976G>A (p.Ala326Thr) c.*53G>A (n.*53G>A) c.1260G>A (p.Met420Ile) c.1359G>A (p.Met453Ile) c.1311G>A (p.Met437Ile) c.1305G>A (p.Met435Ile) c.1206G>A (p.Met402Ile) c.852G>A (p.Met284Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.154465185G>C | CA342628432 | IL6R | c.1212G>C (p.Met404Ile) c.*20G>C (n.*20G>C) n.525G>C n.410G>C c.976G>C (p.Ala326Pro) c.*53G>C (n.*53G>C) c.1260G>C (p.Met420Ile) c.1359G>C (p.Met453Ile) c.1311G>C (p.Met437Ile) c.1305G>C (p.Met435Ile) c.1206G>C (p.Met402Ile) c.852G>C (p.Met284Ile) | |
| 1 | g.154465185G= | CA2480880273 | IL6R | c.1212G= (p.Met404=) c.*20G= (n.*20G=) n.525G= n.410G= c.976G= (p.Ala326=) c.*53G= (n.*53G=) c.1260G= (p.Met420=) c.1359G= (p.Met453=) c.1311G= (p.Met437=) c.1305G= (p.Met435=) c.1206G= (p.Met402=) c.852G= (p.Met284=) | |
| 1 | g.154465185G>T | CA342628433 | IL6R | c.1212G>T (p.Met404Ile) c.*20G>T (n.*20G>T) n.525G>T n.410G>T c.976G>T (p.Ala326Ser) c.*53G>T (n.*53G>T) c.1260G>T (p.Met420Ile) c.1359G>T (p.Met453Ile) c.1311G>T (p.Met437Ile) c.1305G>T (p.Met435Ile) c.1206G>T (p.Met402Ile) c.852G>T (p.Met284Ile) | |
| 1 | g.154465186C>A | CA342628434 | IL6R | c.1213C>A (p.His405Asn) c.*21C>A (n.*21C>A) n.526C>A n.411C>A c.977C>A (p.Ala326Glu) c.*54C>A (n.*54C>A) c.1261C>A (p.His421Asn) c.1360C>A (p.His454Asn) c.1312C>A (p.His438Asn) c.1306C>A (p.His436Asn) c.1207C>A (p.His403Asn) c.853C>A (p.His285Asn) | |
| 1 | g.154465186C= | CA2480880274 | IL6R | c.1213C= (p.His405=) c.*21C= (n.*21C=) n.526C= n.411C= c.977C= (p.Ala326=) c.*54C= (n.*54C=) c.1261C= (p.His421=) c.1360C= (p.His454=) c.1312C= (p.His438=) c.1306C= (p.His436=) c.1207C= (p.His403=) c.853C= (p.His285=) | |
| 1 | g.154465186C>G | CA342628435 | IL6R | c.1213C>G (p.His405Asp) c.*21C>G (n.*21C>G) n.526C>G n.411C>G c.977C>G (p.Ala326Gly) c.*54C>G (n.*54C>G) c.1261C>G (p.His421Asp) c.1360C>G (p.His454Asp) c.1312C>G (p.His438Asp) c.1306C>G (p.His436Asp) c.1207C>G (p.His403Asp) c.853C>G (p.His285Asp) | |
| 1 | g.154465186C>T | CA1129321 | IL6R | c.1213C>T (p.His405Tyr) c.*21C>T (n.*21C>T) n.526C>T n.411C>T c.977C>T (p.Ala326Val) c.*54C>T (n.*54C>T) c.1261C>T (p.His421Tyr) c.1360C>T (p.His454Tyr) c.1312C>T (p.His438Tyr) c.1306C>T (p.His436Tyr) c.1207C>T (p.His403Tyr) c.853C>T (p.His285Tyr) | dbSNP ExAC gnomAD v2 |
| 1 | g.154465187A>C | CA342628438 | IL6R | c.1214A>C (p.His405Pro) c.*22A>C (n.*22A>C) n.527A>C n.412A>C c.978A>C (p.Ala326=) c.*55A>C (n.*55A>C) c.1262A>C (p.His421Pro) c.1361A>C (p.His454Pro) c.1313A>C (p.His438Pro) c.1307A>C (p.His436Pro) c.1208A>C (p.His403Pro) c.854A>C (p.His285Pro) | |
| 1 | g.154465187A>G | CA342628436 | IL6R | c.1214A>G (p.His405Arg) c.*22A>G (n.*22A>G) n.527A>G n.412A>G c.978A>G (p.Ala326=) c.*55A>G (n.*55A>G) c.1262A>G (p.His421Arg) c.1361A>G (p.His454Arg) c.1313A>G (p.His438Arg) c.1307A>G (p.His436Arg) c.1208A>G (p.His403Arg) c.854A>G (p.His285Arg) | |
| 1 | g.154465187A>T | CA342628437 | IL6R | c.1214A>T (p.His405Leu) c.*22A>T (n.*22A>T) n.527A>T n.412A>T c.978A>T (p.Ala326=) c.*55A>T (n.*55A>T) c.1262A>T (p.His421Leu) c.1361A>T (p.His454Leu) c.1313A>T (p.His438Leu) c.1307A>T (p.His436Leu) c.1208A>T (p.His403Leu) c.854A>T (p.His285Leu) | |
| 1 | g.154465188T>A | CA342628439 | IL6R | c.1215T>A (p.His405Gln) c.*23T>A (n.*23T>A) n.528T>A n.413T>A c.979T>A (p.Ser327Thr) c.*56T>A (n.*56T>A) c.1263T>A (p.His421Gln) c.1362T>A (p.His454Gln) c.1314T>A (p.His438Gln) c.1308T>A (p.His436Gln) c.1209T>A (p.His403Gln) c.855T>A (p.His285Gln) | |
| 1 | g.154465188T>C | CA420975875 | IL6R | c.1215T>C (p.His405=) c.*23T>C (n.*23T>C) n.528T>C n.413T>C c.979T>C (p.Ser327Pro) c.*56T>C (n.*56T>C) c.1263T>C (p.His421=) c.1362T>C (p.His454=) c.1314T>C (p.His438=) c.1308T>C (p.His436=) c.1209T>C (p.His403=) c.855T>C (p.His285=) | dbSNP |
| 1 | g.154465188T>G | CA342628440 | IL6R | c.1215T>G (p.His405Gln) c.*23T>G (n.*23T>G) n.528T>G n.413T>G c.979T>G (p.Ser327Ala) c.*56T>G (n.*56T>G) c.1263T>G (p.His421Gln) c.1362T>G (p.His454Gln) c.1314T>G (p.His438Gln) c.1308T>G (p.His436Gln) c.1209T>G (p.His403Gln) c.855T>G (p.His285Gln) | |
| 1 | g.154465188T= | CA2480880275 | IL6R | c.1215T= (p.His405=) c.*23T= (n.*23T=) n.528T= n.413T= c.979T= (p.Ser327=) c.*56T= (n.*56T=) c.1263T= (p.His421=) c.1362T= (p.His454=) c.1314T= (p.His438=) c.1308T= (p.His436=) c.1209T= (p.His403=) c.855T= (p.His285=) | |
| 1 | g.154465189C>A | CA342628441 | IL6R | c.1216C>A (p.Pro406Thr) c.*24C>A (n.*24C>A) n.529C>A n.414C>A c.980C>A (p.Ser327Tyr) c.*57C>A (n.*57C>A) c.1264C>A (p.Pro422Thr) c.1363C>A (p.Pro455Thr) c.1315C>A (p.Pro439Thr) c.1309C>A (p.Pro437Thr) c.1210C>A (p.Pro404Thr) c.856C>A (p.Pro286Thr) | |
| 1 | g.154465189C>G | CA342628442 | IL6R | c.1216C>G (p.Pro406Ala) c.*24C>G (n.*24C>G) n.529C>G n.414C>G c.980C>G (p.Ser327Cys) c.*57C>G (n.*57C>G) c.1264C>G (p.Pro422Ala) c.1363C>G (p.Pro455Ala) c.1315C>G (p.Pro439Ala) c.1309C>G (p.Pro437Ala) c.1210C>G (p.Pro404Ala) c.856C>G (p.Pro286Ala) | |
| 1 | g.154465189C>T | CA342628443 | IL6R | c.1216C>T (p.Pro406Ser) c.*24C>T (n.*24C>T) n.529C>T n.414C>T c.980C>T (p.Ser327Phe) c.*57C>T (n.*57C>T) c.1264C>T (p.Pro422Ser) c.1363C>T (p.Pro455Ser) c.1315C>T (p.Pro439Ser) c.1309C>T (p.Pro437Ser) c.1210C>T (p.Pro404Ser) c.856C>T (p.Pro286Ser) | |
| 1 | g.154465190C>A | CA342628444 | IL6R | c.1217C>A (p.Pro406Gln) c.*25C>A (n.*25C>A) n.530C>A n.415C>A c.981C>A (p.Ser327=) c.*58C>A (n.*58C>A) c.1265C>A (p.Pro422Gln) c.1364C>A (p.Pro455Gln) c.1316C>A (p.Pro439Gln) c.1310C>A (p.Pro437Gln) c.1211C>A (p.Pro404Gln) c.857C>A (p.Pro286Gln) | |
| 1 | g.154465190C= | CA1142345559 | IL6R | c.1217C= (p.Pro406=) c.*25C= (n.*25C=) n.530C= n.415C= c.981C= (p.Ser327=) c.*58C= (n.*58C=) c.1265C= (p.Pro422=) c.1364C= (p.Pro455=) c.1316C= (p.Pro439=) c.1310C= (p.Pro437=) c.1211C= (p.Pro404=) c.857C= (p.Pro286=) | |
| 1 | g.154465190C>G | CA342628445 | IL6R | c.1217C>G (p.Pro406Arg) c.*25C>G (n.*25C>G) n.530C>G n.415C>G c.981C>G (p.Ser327=) c.*58C>G (n.*58C>G) c.1265C>G (p.Pro422Arg) c.1364C>G (p.Pro455Arg) c.1316C>G (p.Pro439Arg) c.1310C>G (p.Pro437Arg) c.1211C>G (p.Pro404Arg) c.857C>G (p.Pro286Arg) | dbSNP |
| 1 | g.154465190C>T | CA1129322 | IL6R | c.1217C>T (p.Pro406Leu) c.*25C>T (n.*25C>T) n.530C>T n.415C>T c.981C>T (p.Ser327=) c.*58C>T (n.*58C>T) c.1265C>T (p.Pro422Leu) c.1364C>T (p.Pro455Leu) c.1316C>T (p.Pro439Leu) c.1310C>T (p.Pro437Leu) c.1211C>T (p.Pro404Leu) c.857C>T (p.Pro286Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.154465191G>A | CA30816358 | IL6R | c.1218G>A (p.Pro406=) c.*26G>A (n.*26G>A) n.531G>A n.416G>A c.982G>A (p.Ala328Thr) c.*59G>A (n.*59G>A) c.1266G>A (p.Pro422=) c.1365G>A (p.Pro455=) c.1317G>A (p.Pro439=) c.1311G>A (p.Pro437=) c.1212G>A (p.Pro404=) c.858G>A (p.Pro286=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.154465191G>C | CA420975879 | IL6R | c.1218G>C (p.Pro406=) c.*26G>C (n.*26G>C) n.531G>C n.416G>C c.982G>C (p.Ala328Pro) c.*59G>C (n.*59G>C) c.1266G>C (p.Pro422=) c.1365G>C (p.Pro455=) c.1317G>C (p.Pro439=) c.1311G>C (p.Pro437=) c.1212G>C (p.Pro404=) c.858G>C (p.Pro286=) | |
| 1 | g.154465191G= | CA2480880276 | IL6R | c.1218G= (p.Pro406=) c.*26G= (n.*26G=) n.531G= n.416G= c.982G= (p.Ala328=) c.*59G= (n.*59G=) c.1266G= (p.Pro422=) c.1365G= (p.Pro455=) c.1317G= (p.Pro439=) c.1311G= (p.Pro437=) c.1212G= (p.Pro404=) c.858G= (p.Pro286=) | |
| 1 | g.154465191G>T | CA420975880 | IL6R | c.1218G>T (p.Pro406=) c.*26G>T (n.*26G>T) n.531G>T n.416G>T c.982G>T (p.Ala328Ser) c.*59G>T (n.*59G>T) c.1266G>T (p.Pro422=) c.1365G>T (p.Pro455=) c.1317G>T (p.Pro439=) c.1311G>T (p.Pro437=) c.1212G>T (p.Pro404=) c.858G>T (p.Pro286=) | |
| 1 | g.154465192C>A | CA342628446 | IL6R | c.1219C>A (p.Pro407Thr) c.*27C>A (n.*27C>A) n.532C>A n.417C>A c.983C>A (p.Ala328Asp) c.*60C>A (n.*60C>A) c.1267C>A (p.Pro423Thr) c.1366C>A (p.Pro456Thr) c.1318C>A (p.Pro440Thr) c.1312C>A (p.Pro438Thr) c.1213C>A (p.Pro405Thr) c.859C>A (p.Pro287Thr) | |
| 1 | g.154465192C>G | CA342628447 | IL6R | c.1219C>G (p.Pro407Ala) c.*27C>G (n.*27C>G) n.532C>G n.417C>G c.983C>G (p.Ala328Gly) c.*60C>G (n.*60C>G) c.1267C>G (p.Pro423Ala) c.1366C>G (p.Pro456Ala) c.1318C>G (p.Pro440Ala) c.1312C>G (p.Pro438Ala) c.1213C>G (p.Pro405Ala) c.859C>G (p.Pro287Ala) | |
| 1 | g.154465192C>T | CA342628448 | IL6R | c.1219C>T (p.Pro407Ser) c.*27C>T (n.*27C>T) n.532C>T n.417C>T c.983C>T (p.Ala328Val) c.*60C>T (n.*60C>T) c.1267C>T (p.Pro423Ser) c.1366C>T (p.Pro456Ser) c.1318C>T (p.Pro440Ser) c.1312C>T (p.Pro438Ser) c.1213C>T (p.Pro405Ser) c.859C>T (p.Pro287Ser) | |
| 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 |