Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.20172775_20172792del | CA645601250 | RPS6KA3 | c.1307_1324del (p.Cys436Ter) c.1220_1237del (p.Cys407Ter) c.1223_1240del (p.Cys408Ter) c.925_942del (n.925_942del) c.*528_*545del (n.*528_*545del) n.73_90del c.1304_1321del (p.Cys435Ter) c.1217_1234del (p.Cys406Ter) c.1325_1342del (p.Cys442Ter) c.1322_1339del (p.Cys441Ter) c.1241_1258del (p.Cys414Ter) c.1238_1255del (p.Cys413Ter) | COSMIC |
X | g.20172776A>C | CA412516121 | RPS6KA3 | c.1323T>G (p.His441Gln) c.1236T>G (p.His412Gln) c.1239T>G (p.His413Gln) c.941T>G (n.941T>G) c.*544T>G (n.*544T>G) n.89T>G c.1320T>G (p.His440Gln) c.1233T>G (p.His411Gln) c.1341T>G (p.His447Gln) c.1338T>G (p.His446Gln) c.1257T>G (p.His419Gln) c.1254T>G (p.His418Gln) | |
X | g.20172776A>G | CA515614059 | RPS6KA3 | c.1323T>C (p.His441=) c.1236T>C (p.His412=) c.1239T>C (p.His413=) c.941T>C (n.941T>C) c.*544T>C (n.*544T>C) n.89T>C c.1320T>C (p.His440=) c.1233T>C (p.His411=) c.1341T>C (p.His447=) c.1338T>C (p.His446=) c.1257T>C (p.His419=) c.1254T>C (p.His418=) | |
X | g.20172776A>T | CA412516123 | RPS6KA3 | c.1323T>A (p.His441Gln) c.1236T>A (p.His412Gln) c.1239T>A (p.His413Gln) c.941T>A (n.941T>A) c.*544T>A (n.*544T>A) n.89T>A c.1320T>A (p.His440Gln) c.1233T>A (p.His411Gln) c.1341T>A (p.His447Gln) c.1338T>A (p.His446Gln) c.1257T>A (p.His419Gln) c.1254T>A (p.His418Gln) | |
X | g.20172777T>A | CA412516124 | RPS6KA3 | c.1322A>T (p.His441Leu) c.1235A>T (p.His412Leu) c.1238A>T (p.His413Leu) c.940A>T (n.940A>T) c.*543A>T (n.*543A>T) n.88A>T c.1319A>T (p.His440Leu) c.1232A>T (p.His411Leu) c.1340A>T (p.His447Leu) c.1337A>T (p.His446Leu) c.1256A>T (p.His419Leu) c.1253A>T (p.His418Leu) | |
X | g.20172777T>C | CA412516125 | RPS6KA3 | c.1322A>G (p.His441Arg) c.1235A>G (p.His412Arg) c.1238A>G (p.His413Arg) c.940A>G (n.940A>G) c.*543A>G (n.*543A>G) n.88A>G c.1319A>G (p.His440Arg) c.1232A>G (p.His411Arg) c.1340A>G (p.His447Arg) c.1337A>G (p.His446Arg) c.1256A>G (p.His419Arg) c.1253A>G (p.His418Arg) | |
X | g.20172777T>G | CA412516126 | RPS6KA3 | c.1322A>C (p.His441Pro) c.1235A>C (p.His412Pro) c.1238A>C (p.His413Pro) c.940A>C (n.940A>C) c.*543A>C (n.*543A>C) n.88A>C c.1319A>C (p.His440Pro) c.1232A>C (p.His411Pro) c.1340A>C (p.His447Pro) c.1337A>C (p.His446Pro) c.1256A>C (p.His419Pro) c.1253A>C (p.His418Pro) | |
X | g.20172778G>A | CA412516128 | RPS6KA3 | c.1321C>T (p.His441Tyr) c.1234C>T (p.His412Tyr) c.1237C>T (p.His413Tyr) c.939C>T (n.939C>T) c.*542C>T (n.*542C>T) n.87C>T c.1318C>T (p.His440Tyr) c.1231C>T (p.His411Tyr) c.1339C>T (p.His447Tyr) c.1336C>T (p.His446Tyr) c.1255C>T (p.His419Tyr) c.1252C>T (p.His418Tyr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.20172778G>C | CA412516129 | RPS6KA3 | c.1321C>G (p.His441Asp) c.1234C>G (p.His412Asp) c.1237C>G (p.His413Asp) c.939C>G (n.939C>G) c.*542C>G (n.*542C>G) n.87C>G c.1318C>G (p.His440Asp) c.1231C>G (p.His411Asp) c.1339C>G (p.His447Asp) c.1336C>G (p.His446Asp) c.1255C>G (p.His419Asp) c.1252C>G (p.His418Asp) | |
X | g.20172778G= | CA2418508454 | RPS6KA3 | c.1321C= (p.His441=) c.1234C= (p.His412=) c.1237C= (p.His413=) c.939C= (n.939C=) c.*542C= (n.*542C=) n.87C= c.1318C= (p.His440=) c.1231C= (p.His411=) c.1339C= (p.His447=) c.1336C= (p.His446=) c.1255C= (p.His419=) c.1252C= (p.His418=) | |
X | g.20172778G>T | CA412516127 | RPS6KA3 | c.1321C>A (p.His441Asn) c.1234C>A (p.His412Asn) c.1237C>A (p.His413Asn) c.939C>A (n.939C>A) c.*542C>A (n.*542C>A) n.87C>A c.1318C>A (p.His440Asn) c.1231C>A (p.His411Asn) c.1339C>A (p.His447Asn) c.1336C>A (p.His446Asn) c.1255C>A (p.His419Asn) c.1252C>A (p.His418Asn) | |
X | g.20172779T>A | CA515614060 | RPS6KA3 | c.1320A>T (p.Ile440=) c.1233A>T (p.Ile411=) c.1236A>T (p.Ile412=) c.938A>T (n.938A>T) c.*541A>T (n.*541A>T) n.86A>T c.1317A>T (p.Ile439=) c.1230A>T (p.Ile410=) c.1338A>T (p.Ile446=) c.1335A>T (p.Ile445=) c.1254A>T (p.Ile418=) c.1251A>T (p.Ile417=) | |
X | g.20172779T>C | CA412516131 | RPS6KA3 | c.1320A>G (p.Ile440Met) c.1233A>G (p.Ile411Met) c.1236A>G (p.Ile412Met) c.938A>G (n.938A>G) c.*541A>G (n.*541A>G) n.86A>G c.1317A>G (p.Ile439Met) c.1230A>G (p.Ile410Met) c.1338A>G (p.Ile446Met) c.1335A>G (p.Ile445Met) c.1254A>G (p.Ile418Met) c.1251A>G (p.Ile417Met) | |
X | g.20172779T>G | CA10366134 | RPS6KA3 | c.1320A>C (p.Ile440=) c.1233A>C (p.Ile411=) c.1236A>C (p.Ile412=) c.938A>C (n.938A>C) c.*541A>C (n.*541A>C) n.86A>C c.1317A>C (p.Ile439=) c.1230A>C (p.Ile410=) c.1338A>C (p.Ile446=) c.1335A>C (p.Ile445=) c.1254A>C (p.Ile418=) c.1251A>C (p.Ile417=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.20172779T= | CA2418508455 | RPS6KA3 | c.1320A= (p.Ile440=) c.1233A= (p.Ile411=) c.1236A= (p.Ile412=) c.938A= (n.938A=) c.*541A= (n.*541A=) n.86A= c.1317A= (p.Ile439=) c.1230A= (p.Ile410=) c.1338A= (p.Ile446=) c.1335A= (p.Ile445=) c.1254A= (p.Ile418=) c.1251A= (p.Ile417=) | |
X | g.20172780A>C | CA412516137 | RPS6KA3 | c.1319T>G (p.Ile440Arg) c.1232T>G (p.Ile411Arg) c.1235T>G (p.Ile412Arg) c.937T>G (n.937T>G) c.*540T>G (n.*540T>G) n.85T>G c.1316T>G (p.Ile439Arg) c.1229T>G (p.Ile410Arg) c.1337T>G (p.Ile446Arg) c.1334T>G (p.Ile445Arg) c.1253T>G (p.Ile418Arg) c.1250T>G (p.Ile417Arg) | |
X | g.20172780A>G | CA412516140 | RPS6KA3 | c.1319T>C (p.Ile440Thr) c.1232T>C (p.Ile411Thr) c.1235T>C (p.Ile412Thr) c.937T>C (n.937T>C) c.*540T>C (n.*540T>C) n.85T>C c.1316T>C (p.Ile439Thr) c.1229T>C (p.Ile410Thr) c.1337T>C (p.Ile446Thr) c.1334T>C (p.Ile445Thr) c.1253T>C (p.Ile418Thr) c.1250T>C (p.Ile417Thr) | |
X | g.20172780A>T | CA412516142 | RPS6KA3 | c.1319T>A (p.Ile440Lys) c.1232T>A (p.Ile411Lys) c.1235T>A (p.Ile412Lys) c.937T>A (n.937T>A) c.*540T>A (n.*540T>A) n.85T>A c.1316T>A (p.Ile439Lys) c.1229T>A (p.Ile410Lys) c.1337T>A (p.Ile446Lys) c.1334T>A (p.Ile445Lys) c.1253T>A (p.Ile418Lys) c.1250T>A (p.Ile417Lys) | |
X | g.20172781T>A | CA412516146 | RPS6KA3 | c.1318A>T (p.Ile440Leu) c.1231A>T (p.Ile411Leu) c.1234A>T (p.Ile412Leu) c.936A>T (n.936A>T) c.*539A>T (n.*539A>T) n.84A>T c.1315A>T (p.Ile439Leu) c.1228A>T (p.Ile410Leu) c.1336A>T (p.Ile446Leu) c.1333A>T (p.Ile445Leu) c.1252A>T (p.Ile418Leu) c.1249A>T (p.Ile417Leu) | |
X | g.20172781T>C | CA412516144 | RPS6KA3 | c.1318A>G (p.Ile440Val) c.1231A>G (p.Ile411Val) c.1234A>G (p.Ile412Val) c.936A>G (n.936A>G) c.*539A>G (n.*539A>G) n.84A>G c.1315A>G (p.Ile439Val) c.1228A>G (p.Ile410Val) c.1336A>G (p.Ile446Val) c.1333A>G (p.Ile445Val) c.1252A>G (p.Ile418Val) c.1249A>G (p.Ile417Val) | |
X | g.20172781T>G | CA412516145 | RPS6KA3 | c.1318A>C (p.Ile440Leu) c.1231A>C (p.Ile411Leu) c.1234A>C (p.Ile412Leu) c.936A>C (n.936A>C) c.*539A>C (n.*539A>C) n.84A>C c.1315A>C (p.Ile439Leu) c.1228A>C (p.Ile410Leu) c.1336A>C (p.Ile446Leu) c.1333A>C (p.Ile445Leu) c.1252A>C (p.Ile418Leu) c.1249A>C (p.Ile417Leu) | |
X | g.20172782A>C | CA412516147 | RPS6KA3 | c.1317T>G (p.Cys439Trp) c.1230T>G (p.Cys410Trp) c.1233T>G (p.Cys411Trp) c.935T>G (n.935T>G) c.*538T>G (n.*538T>G) n.83T>G c.1314T>G (p.Cys438Trp) c.1227T>G (p.Cys409Trp) c.1335T>G (p.Cys445Trp) c.1332T>G (p.Cys444Trp) c.1251T>G (p.Cys417Trp) c.1248T>G (p.Cys416Trp) | |
X | g.20172782A>G | CA515614061 | RPS6KA3 | c.1317T>C (p.Cys439=) c.1230T>C (p.Cys410=) c.1233T>C (p.Cys411=) c.935T>C (n.935T>C) c.*538T>C (n.*538T>C) n.83T>C c.1314T>C (p.Cys438=) c.1227T>C (p.Cys409=) c.1335T>C (p.Cys445=) c.1332T>C (p.Cys444=) c.1251T>C (p.Cys417=) c.1248T>C (p.Cys416=) | ClinVar gnomAD v4 COSMIC |
X | g.20172782A>T | CA412516148 | RPS6KA3 | c.1317T>A (p.Cys439Ter) c.1230T>A (p.Cys410Ter) c.1233T>A (p.Cys411Ter) c.935T>A (n.935T>A) c.*538T>A (n.*538T>A) n.83T>A c.1314T>A (p.Cys438Ter) c.1227T>A (p.Cys409Ter) c.1335T>A (p.Cys445Ter) c.1332T>A (p.Cys444Ter) c.1251T>A (p.Cys417Ter) c.1248T>A (p.Cys416Ter) | |
X | g.20172783C>A | CA412516150 | RPS6KA3 | c.1316G>T (p.Cys439Phe) c.1229G>T (p.Cys410Phe) c.1232G>T (p.Cys411Phe) c.934G>T (n.934G>T) c.*537G>T (n.*537G>T) n.82G>T c.1313G>T (p.Cys438Phe) c.1226G>T (p.Cys409Phe) c.1334G>T (p.Cys445Phe) c.1331G>T (p.Cys444Phe) c.1250G>T (p.Cys417Phe) c.1247G>T (p.Cys416Phe) | |
X | g.20172783C>G | CA412516152 | RPS6KA3 | c.1316G>C (p.Cys439Ser) c.1229G>C (p.Cys410Ser) c.1232G>C (p.Cys411Ser) c.934G>C (n.934G>C) c.*537G>C (n.*537G>C) n.82G>C c.1313G>C (p.Cys438Ser) c.1226G>C (p.Cys409Ser) c.1334G>C (p.Cys445Ser) c.1331G>C (p.Cys444Ser) c.1250G>C (p.Cys417Ser) c.1247G>C (p.Cys416Ser) | |
X | g.20172783C>T | CA412516154 | RPS6KA3 | c.1316G>A (p.Cys439Tyr) c.1229G>A (p.Cys410Tyr) c.1232G>A (p.Cys411Tyr) c.934G>A (n.934G>A) c.*537G>A (n.*537G>A) n.82G>A c.1313G>A (p.Cys438Tyr) c.1226G>A (p.Cys409Tyr) c.1334G>A (p.Cys445Tyr) c.1331G>A (p.Cys444Tyr) c.1250G>A (p.Cys417Tyr) c.1247G>A (p.Cys416Tyr) | |
X | g.20172784A>C | CA412516161 | RPS6KA3 | c.1315T>G (p.Cys439Gly) c.1228T>G (p.Cys410Gly) c.1231T>G (p.Cys411Gly) c.933T>G (n.933T>G) c.*536T>G (n.*536T>G) n.81T>G c.1312T>G (p.Cys438Gly) c.1225T>G (p.Cys409Gly) c.1333T>G (p.Cys445Gly) c.1330T>G (p.Cys444Gly) c.1249T>G (p.Cys417Gly) c.1246T>G (p.Cys416Gly) | |
X | g.20172784A>G | CA412516160 | RPS6KA3 | c.1315T>C (p.Cys439Arg) c.1228T>C (p.Cys410Arg) c.1231T>C (p.Cys411Arg) c.933T>C (n.933T>C) c.*536T>C (n.*536T>C) n.81T>C c.1312T>C (p.Cys438Arg) c.1225T>C (p.Cys409Arg) c.1333T>C (p.Cys445Arg) c.1330T>C (p.Cys444Arg) c.1249T>C (p.Cys417Arg) c.1246T>C (p.Cys416Arg) | |
X | g.20172784A>T | CA412516157 | RPS6KA3 | c.1315T>A (p.Cys439Ser) c.1228T>A (p.Cys410Ser) c.1231T>A (p.Cys411Ser) c.933T>A (n.933T>A) c.*536T>A (n.*536T>A) n.81T>A c.1312T>A (p.Cys438Ser) c.1225T>A (p.Cys409Ser) c.1333T>A (p.Cys445Ser) c.1330T>A (p.Cys444Ser) c.1249T>A (p.Cys417Ser) c.1246T>A (p.Cys416Ser) | |
X | g.20172785T>A | CA412516162 | RPS6KA3 | c.1314A>T (p.Arg438Ser) c.1227A>T (p.Arg409Ser) c.1230A>T (p.Arg410Ser) c.932A>T (n.932A>T) c.*535A>T (n.*535A>T) n.80A>T c.1311A>T (p.Arg437Ser) c.1224A>T (p.Arg408Ser) c.1332A>T (p.Arg444Ser) c.1329A>T (p.Arg443Ser) c.1248A>T (p.Arg416Ser) c.1245A>T (p.Arg415Ser) | |
X | g.20172785T>C | CA515614062 | RPS6KA3 | c.1314A>G (p.Arg438=) c.1227A>G (p.Arg409=) c.1230A>G (p.Arg410=) c.932A>G (n.932A>G) c.*535A>G (n.*535A>G) n.80A>G c.1311A>G (p.Arg437=) c.1224A>G (p.Arg408=) c.1332A>G (p.Arg444=) c.1329A>G (p.Arg443=) c.1248A>G (p.Arg416=) c.1245A>G (p.Arg415=) | gnomAD v4 |
X | g.20172785T>G | CA412516163 | RPS6KA3 | c.1314A>C (p.Arg438Ser) c.1227A>C (p.Arg409Ser) c.1230A>C (p.Arg410Ser) c.932A>C (n.932A>C) c.*535A>C (n.*535A>C) n.80A>C c.1311A>C (p.Arg437Ser) c.1224A>C (p.Arg408Ser) c.1332A>C (p.Arg444Ser) c.1329A>C (p.Arg443Ser) c.1248A>C (p.Arg416Ser) c.1245A>C (p.Arg415Ser) | |
X | g.20172786C>A | CA412516164 | RPS6KA3 | c.1313G>T (p.Arg438Ile) c.1226G>T (p.Arg409Ile) c.1229G>T (p.Arg410Ile) c.931G>T (n.931G>T) c.*534G>T (n.*534G>T) n.79G>T c.1310G>T (p.Arg437Ile) c.1223G>T (p.Arg408Ile) c.1331G>T (p.Arg444Ile) c.1328G>T (p.Arg443Ile) c.1247G>T (p.Arg416Ile) c.1244G>T (p.Arg415Ile) | |
X | g.20172786C>G | CA412516165 | RPS6KA3 | c.1313G>C (p.Arg438Thr) c.1226G>C (p.Arg409Thr) c.1229G>C (p.Arg410Thr) c.931G>C (n.931G>C) c.*534G>C (n.*534G>C) n.79G>C c.1310G>C (p.Arg437Thr) c.1223G>C (p.Arg408Thr) c.1331G>C (p.Arg444Thr) c.1328G>C (p.Arg443Thr) c.1247G>C (p.Arg416Thr) c.1244G>C (p.Arg415Thr) | |
X | g.20172786C>T | CA412516167 | RPS6KA3 | c.1313G>A (p.Arg438Lys) c.1226G>A (p.Arg409Lys) c.1229G>A (p.Arg410Lys) c.931G>A (n.931G>A) c.*534G>A (n.*534G>A) n.79G>A c.1310G>A (p.Arg437Lys) c.1223G>A (p.Arg408Lys) c.1331G>A (p.Arg444Lys) c.1328G>A (p.Arg443Lys) c.1247G>A (p.Arg416Lys) c.1244G>A (p.Arg415Lys) | |
X | g.20172787T>A | CA412516169 | RPS6KA3 | c.1312A>T (p.Arg438Ter) c.1225A>T (p.Arg409Ter) c.1228A>T (p.Arg410Ter) c.930A>T (n.930A>T) c.*533A>T (n.*533A>T) n.78A>T c.1309A>T (p.Arg437Ter) c.1222A>T (p.Arg408Ter) c.1330A>T (p.Arg444Ter) c.1327A>T (p.Arg443Ter) c.1246A>T (p.Arg416Ter) c.1243A>T (p.Arg415Ter) | |
X | g.20172787T>C | CA412516170 | RPS6KA3 | c.1312A>G (p.Arg438Gly) c.1225A>G (p.Arg409Gly) c.1228A>G (p.Arg410Gly) c.930A>G (n.930A>G) c.*533A>G (n.*533A>G) n.78A>G c.1309A>G (p.Arg437Gly) c.1222A>G (p.Arg408Gly) c.1330A>G (p.Arg444Gly) c.1327A>G (p.Arg443Gly) c.1246A>G (p.Arg416Gly) c.1243A>G (p.Arg415Gly) | |
X | g.20172787T>G | CA515614064 | RPS6KA3 | c.1312A>C (p.Arg438=) c.1225A>C (p.Arg409=) c.1228A>C (p.Arg410=) c.930A>C (n.930A>C) c.*533A>C (n.*533A>C) n.78A>C c.1309A>C (p.Arg437=) c.1222A>C (p.Arg408=) c.1330A>C (p.Arg444=) c.1327A>C (p.Arg443=) c.1246A>C (p.Arg416=) c.1243A>C (p.Arg415=) | |
X | g.20172788C>A | CA412516172 | RPS6KA3 | c.1311G>T (p.Lys437Asn) c.1224G>T (p.Lys408Asn) c.1227G>T (p.Lys409Asn) c.929G>T (n.929G>T) c.*532G>T (n.*532G>T) n.77G>T c.1308G>T (p.Lys436Asn) c.1221G>T (p.Lys407Asn) c.1329G>T (p.Lys443Asn) c.1326G>T (p.Lys442Asn) c.1245G>T (p.Lys415Asn) c.1242G>T (p.Lys414Asn) | |
X | g.20172788C>G | CA412516175 | RPS6KA3 | c.1311G>C (p.Lys437Asn) c.1224G>C (p.Lys408Asn) c.1227G>C (p.Lys409Asn) c.929G>C (n.929G>C) c.*532G>C (n.*532G>C) n.77G>C c.1308G>C (p.Lys436Asn) c.1221G>C (p.Lys407Asn) c.1329G>C (p.Lys443Asn) c.1326G>C (p.Lys442Asn) c.1245G>C (p.Lys415Asn) c.1242G>C (p.Lys414Asn) | |
X | g.20172788C>T | CA515614065 | RPS6KA3 | c.1311G>A (p.Lys437=) c.1224G>A (p.Lys408=) c.1227G>A (p.Lys409=) c.929G>A (n.929G>A) c.*532G>A (n.*532G>A) n.77G>A c.1308G>A (p.Lys436=) c.1221G>A (p.Lys407=) c.1329G>A (p.Lys443=) c.1326G>A (p.Lys442=) c.1245G>A (p.Lys415=) c.1242G>A (p.Lys414=) | |
X | g.20172789T>A | CA412516176 | RPS6KA3 | c.1310A>T (p.Lys437Met) c.1223A>T (p.Lys408Met) c.1226A>T (p.Lys409Met) c.928A>T (n.928A>T) c.*531A>T (n.*531A>T) n.76A>T c.1307A>T (p.Lys436Met) c.1220A>T (p.Lys407Met) c.1328A>T (p.Lys443Met) c.1325A>T (p.Lys442Met) c.1244A>T (p.Lys415Met) c.1241A>T (p.Lys414Met) | |
X | g.20172789T>C | CA412516177 | RPS6KA3 | c.1310A>G (p.Lys437Arg) c.1223A>G (p.Lys408Arg) c.1226A>G (p.Lys409Arg) c.928A>G (n.928A>G) c.*531A>G (n.*531A>G) n.76A>G c.1307A>G (p.Lys436Arg) c.1220A>G (p.Lys407Arg) c.1328A>G (p.Lys443Arg) c.1325A>G (p.Lys442Arg) c.1244A>G (p.Lys415Arg) c.1241A>G (p.Lys414Arg) | gnomAD v4 |
X | g.20172789T>G | CA412516178 | RPS6KA3 | c.1310A>C (p.Lys437Thr) c.1223A>C (p.Lys408Thr) c.1226A>C (p.Lys409Thr) c.928A>C (n.928A>C) c.*531A>C (n.*531A>C) n.76A>C c.1307A>C (p.Lys436Thr) c.1220A>C (p.Lys407Thr) c.1328A>C (p.Lys443Thr) c.1325A>C (p.Lys442Thr) c.1244A>C (p.Lys415Thr) c.1241A>C (p.Lys414Thr) | gnomAD v4 |
X | g.20172790T>A | CA412516180 | RPS6KA3 | c.1309A>T (p.Lys437Ter) c.1222A>T (p.Lys408Ter) c.1225A>T (p.Lys409Ter) c.927A>T (n.927A>T) c.*530A>T (n.*530A>T) n.75A>T c.1306A>T (p.Lys436Ter) c.1219A>T (p.Lys407Ter) c.1327A>T (p.Lys443Ter) c.1324A>T (p.Lys442Ter) c.1243A>T (p.Lys415Ter) c.1240A>T (p.Lys414Ter) | |
X | g.20172790T>C | CA412516181 | RPS6KA3 | c.1309A>G (p.Lys437Glu) c.1222A>G (p.Lys408Glu) c.1225A>G (p.Lys409Glu) c.927A>G (n.927A>G) c.*530A>G (n.*530A>G) n.75A>G c.1306A>G (p.Lys436Glu) c.1219A>G (p.Lys407Glu) c.1327A>G (p.Lys443Glu) c.1324A>G (p.Lys442Glu) c.1243A>G (p.Lys415Glu) c.1240A>G (p.Lys414Glu) | |
X | g.20172790T>G | CA412516182 | RPS6KA3 | c.1309A>C (p.Lys437Gln) c.1222A>C (p.Lys408Gln) c.1225A>C (p.Lys409Gln) c.927A>C (n.927A>C) c.*530A>C (n.*530A>C) n.75A>C c.1306A>C (p.Lys436Gln) c.1219A>C (p.Lys407Gln) c.1327A>C (p.Lys443Gln) c.1324A>C (p.Lys442Gln) c.1243A>C (p.Lys415Gln) c.1240A>C (p.Lys414Gln) | |
X | g.20172791G>A | CA515614066 | RPS6KA3 | c.1308C>T (p.Cys436=) c.1221C>T (p.Cys407=) c.1224C>T (p.Cys408=) c.926C>T (n.926C>T) c.*529C>T (n.*529C>T) n.74C>T c.1305C>T (p.Cys435=) c.1218C>T (p.Cys406=) c.1326C>T (p.Cys442=) c.1323C>T (p.Cys441=) c.1242C>T (p.Cys414=) c.1239C>T (p.Cys413=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.20172791G>C | CA412516186 | RPS6KA3 | c.1308C>G (p.Cys436Trp) c.1221C>G (p.Cys407Trp) c.1224C>G (p.Cys408Trp) c.926C>G (n.926C>G) c.*529C>G (n.*529C>G) n.74C>G c.1305C>G (p.Cys435Trp) c.1218C>G (p.Cys406Trp) c.1326C>G (p.Cys442Trp) c.1323C>G (p.Cys441Trp) c.1242C>G (p.Cys414Trp) c.1239C>G (p.Cys413Trp) | |
X | g.20172791G= | CA2418508457 | RPS6KA3 | c.1308C= (p.Cys436=) c.1221C= (p.Cys407=) c.1224C= (p.Cys408=) c.926C= (n.926C=) c.*529C= (n.*529C=) n.74C= c.1305C= (p.Cys435=) c.1218C= (p.Cys406=) c.1326C= (p.Cys442=) c.1323C= (p.Cys441=) c.1242C= (p.Cys414=) c.1239C= (p.Cys413=) | |
X | g.20172791G>T | CA412516189 | RPS6KA3 | c.1308C>A (p.Cys436Ter) c.1221C>A (p.Cys407Ter) c.1224C>A (p.Cys408Ter) c.926C>A (n.926C>A) c.*529C>A (n.*529C>A) n.74C>A c.1305C>A (p.Cys435Ter) c.1218C>A (p.Cys406Ter) c.1326C>A (p.Cys442Ter) c.1323C>A (p.Cys441Ter) c.1242C>A (p.Cys414Ter) c.1239C>A (p.Cys413Ter) | ClinVar dbSNP |
X | g.20172791_20172795delinsGCAAA | CA2418508456 | RPS6KA3 | c.1304_1308delinsTTTGC (p.Val435=) c.1217_1221delinsTTTGC (p.Val406=) c.1220_1224delinsTTTGC (p.Val407=) c.922_926delinsTTTGC (n.922_926delinsTTTGC) c.*525_*529delinsTTTGC (n.*525_*529delinsTTTGC) n.70_74delinsTTTGC c.1301_1305delinsTTTGC (p.Val434=) c.1214_1218delinsTTTGC (p.Val405=) c.1322_1326delinsTTTGC (p.Val441=) c.1319_1323delinsTTTGC (p.Val440=) c.1238_1242delinsTTTGC (p.Val413=) c.1235_1239delinsTTTGC (p.Val412=) | |
X | g.20172792C>A | CA412516191 | RPS6KA3 | c.1307G>T (p.Cys436Phe) c.1220G>T (p.Cys407Phe) c.1223G>T (p.Cys408Phe) c.925G>T (n.925G>T) c.*528G>T (n.*528G>T) n.73G>T c.1304G>T (p.Cys435Phe) c.1217G>T (p.Cys406Phe) c.1325G>T (p.Cys442Phe) c.1322G>T (p.Cys441Phe) c.1241G>T (p.Cys414Phe) c.1238G>T (p.Cys413Phe) | |
X | g.20172792C>G | CA412516193 | RPS6KA3 | c.1307G>C (p.Cys436Ser) c.1220G>C (p.Cys407Ser) c.1223G>C (p.Cys408Ser) c.925G>C (n.925G>C) c.*528G>C (n.*528G>C) n.73G>C c.1304G>C (p.Cys435Ser) c.1217G>C (p.Cys406Ser) c.1325G>C (p.Cys442Ser) c.1322G>C (p.Cys441Ser) c.1241G>C (p.Cys414Ser) c.1238G>C (p.Cys413Ser) | |
X | g.20172792C>T | CA412516197 | RPS6KA3 | c.1307G>A (p.Cys436Tyr) c.1220G>A (p.Cys407Tyr) c.1223G>A (p.Cys408Tyr) c.925G>A (n.925G>A) c.*528G>A (n.*528G>A) n.73G>A c.1304G>A (p.Cys435Tyr) c.1217G>A (p.Cys406Tyr) c.1325G>A (p.Cys442Tyr) c.1322G>A (p.Cys441Tyr) c.1241G>A (p.Cys414Tyr) c.1238G>A (p.Cys413Tyr) | |
X | g.20172794_20172797del | CA206513 | RPS6KA3 | c.1304_1307del (p.Val435AlafsTer15) c.1217_1220del (p.Val406AlafsTer15) c.1220_1223del (p.Val407AlafsTer15) c.922_925del (n.922_925del) c.*525_*528del (n.*525_*528del) n.70_73del c.1301_1304del (p.Val434AlafsTer15) c.1214_1217del (p.Val405AlafsTer15) c.1322_1325del (p.Val441AlafsTer15) c.1319_1322del (p.Val440AlafsTer15) c.1238_1241del (p.Val413AlafsTer15) c.1235_1238del (p.Val412AlafsTer15) | ClinVar dbSNP |
X | g.20172793A>C | CA412516203 | RPS6KA3 | c.1306T>G (p.Cys436Gly) c.1219T>G (p.Cys407Gly) c.1222T>G (p.Cys408Gly) c.924T>G (n.924T>G) c.*527T>G (n.*527T>G) n.72T>G c.1303T>G (p.Cys435Gly) c.1216T>G (p.Cys406Gly) c.1324T>G (p.Cys442Gly) c.1321T>G (p.Cys441Gly) c.1240T>G (p.Cys414Gly) c.1237T>G (p.Cys413Gly) | |
X | g.20172793A>G | CA412516210 | RPS6KA3 | c.1306T>C (p.Cys436Arg) c.1219T>C (p.Cys407Arg) c.1222T>C (p.Cys408Arg) c.924T>C (n.924T>C) c.*527T>C (n.*527T>C) n.72T>C c.1303T>C (p.Cys435Arg) c.1216T>C (p.Cys406Arg) c.1324T>C (p.Cys442Arg) c.1321T>C (p.Cys441Arg) c.1240T>C (p.Cys414Arg) c.1237T>C (p.Cys413Arg) | |
X | g.20172793A>T | CA412516213 | RPS6KA3 | c.1306T>A (p.Cys436Ser) c.1219T>A (p.Cys407Ser) c.1222T>A (p.Cys408Ser) c.924T>A (n.924T>A) c.*527T>A (n.*527T>A) n.72T>A c.1303T>A (p.Cys435Ser) c.1216T>A (p.Cys406Ser) c.1324T>A (p.Cys442Ser) c.1321T>A (p.Cys441Ser) c.1240T>A (p.Cys414Ser) c.1237T>A (p.Cys413Ser) | |
X | g.20172794A>C | CA515614069 | RPS6KA3 | c.1305T>G (p.Val435=) c.1218T>G (p.Val406=) c.1221T>G (p.Val407=) c.923T>G (n.923T>G) c.*526T>G (n.*526T>G) n.71T>G c.1302T>G (p.Val434=) c.1215T>G (p.Val405=) c.1323T>G (p.Val441=) c.1320T>G (p.Val440=) c.1239T>G (p.Val413=) c.1236T>G (p.Val412=) | |
X | g.20172794A>G | CA515614067 | RPS6KA3 | c.1305T>C (p.Val435=) c.1218T>C (p.Val406=) c.1221T>C (p.Val407=) c.923T>C (n.923T>C) c.*526T>C (n.*526T>C) n.71T>C c.1302T>C (p.Val434=) c.1215T>C (p.Val405=) c.1323T>C (p.Val441=) c.1320T>C (p.Val440=) c.1239T>C (p.Val413=) c.1236T>C (p.Val412=) | |
X | g.20172794A>T | CA515614068 | RPS6KA3 | c.1305T>A (p.Val435=) c.1218T>A (p.Val406=) c.1221T>A (p.Val407=) c.923T>A (n.923T>A) c.*526T>A (n.*526T>A) n.71T>A c.1302T>A (p.Val434=) c.1215T>A (p.Val405=) c.1323T>A (p.Val441=) c.1320T>A (p.Val440=) c.1239T>A (p.Val413=) c.1236T>A (p.Val412=) | |
X | g.20172795A>C | CA412516214 | RPS6KA3 | c.1304T>G (p.Val435Gly) c.1217T>G (p.Val406Gly) c.1220T>G (p.Val407Gly) c.922T>G (n.922T>G) c.*525T>G (n.*525T>G) n.70T>G c.1301T>G (p.Val434Gly) c.1214T>G (p.Val405Gly) c.1322T>G (p.Val441Gly) c.1319T>G (p.Val440Gly) c.1238T>G (p.Val413Gly) c.1235T>G (p.Val412Gly) | |
X | g.20172795A>G | CA412516215 | RPS6KA3 | c.1304T>C (p.Val435Ala) c.1217T>C (p.Val406Ala) c.1220T>C (p.Val407Ala) c.922T>C (n.922T>C) c.*525T>C (n.*525T>C) n.70T>C c.1301T>C (p.Val434Ala) c.1214T>C (p.Val405Ala) c.1322T>C (p.Val441Ala) c.1319T>C (p.Val440Ala) c.1238T>C (p.Val413Ala) c.1235T>C (p.Val412Ala) | |
X | g.20172795A>T | CA412516217 | RPS6KA3 | c.1304T>A (p.Val435Asp) c.1217T>A (p.Val406Asp) c.1220T>A (p.Val407Asp) c.922T>A (n.922T>A) c.*525T>A (n.*525T>A) n.70T>A c.1301T>A (p.Val434Asp) c.1214T>A (p.Val405Asp) c.1322T>A (p.Val441Asp) c.1319T>A (p.Val440Asp) c.1238T>A (p.Val413Asp) c.1235T>A (p.Val412Asp) | |
X | g.20172795_20172800del | CA645601251 | RPS6KA3 | c.1299_1304del (p.Ser434_Val435del) c.1212_1217del (p.Ser405_Val406del) c.1215_1220del (p.Ser406_Val407del) c.917_922del (n.917_922del) c.*520_*525del (n.*520_*525del) n.65_70del c.1296_1301del (p.Ser433_Val434del) c.1209_1214del (p.Ser404_Val405del) c.1317_1322del (p.Ser440_Val441del) c.1314_1319del (p.Ser439_Val440del) c.1233_1238del (p.Ser412_Val413del) c.1230_1235del (p.Ser411_Val412del) | COSMIC |
X | g.20172796C>A | CA412516220 | RPS6KA3 | c.1303G>T (p.Val435Phe) c.1216G>T (p.Val406Phe) c.1219G>T (p.Val407Phe) c.921G>T (n.921G>T) c.*524G>T (n.*524G>T) n.69G>T c.1300G>T (p.Val434Phe) c.1213G>T (p.Val405Phe) c.1321G>T (p.Val441Phe) c.1318G>T (p.Val440Phe) c.1237G>T (p.Val413Phe) c.1234G>T (p.Val412Phe) | |
X | g.20172796C= | CA2418508458 | RPS6KA3 | c.1303G= (p.Val435=) c.1216G= (p.Val406=) c.1219G= (p.Val407=) c.921G= (n.921G=) c.*524G= (n.*524G=) n.69G= c.1300G= (p.Val434=) c.1213G= (p.Val405=) c.1321G= (p.Val441=) c.1318G= (p.Val440=) c.1237G= (p.Val413=) c.1234G= (p.Val412=) | |
X | g.20172796C>G | CA412516223 | RPS6KA3 | c.1303G>C (p.Val435Leu) c.1216G>C (p.Val406Leu) c.1219G>C (p.Val407Leu) c.921G>C (n.921G>C) c.*524G>C (n.*524G>C) n.69G>C c.1300G>C (p.Val434Leu) c.1213G>C (p.Val405Leu) c.1321G>C (p.Val441Leu) c.1318G>C (p.Val440Leu) c.1237G>C (p.Val413Leu) c.1234G>C (p.Val412Leu) | dbSNP gnomAD v4 |
X | g.20172796C>T | CA412516229 | RPS6KA3 | c.1303G>A (p.Val435Ile) c.1216G>A (p.Val406Ile) c.1219G>A (p.Val407Ile) c.921G>A (n.921G>A) c.*524G>A (n.*524G>A) n.69G>A c.1300G>A (p.Val434Ile) c.1213G>A (p.Val405Ile) c.1321G>A (p.Val441Ile) c.1318G>A (p.Val440Ile) c.1237G>A (p.Val413Ile) c.1234G>A (p.Val412Ile) | |
X | g.20172797A= | CA2418508459 | RPS6KA3 | c.1302T= (p.Ser434=) c.1215T= (p.Ser405=) c.1218T= (p.Ser406=) c.920T= (n.920T=) c.*523T= (n.*523T=) n.68T= c.1299T= (p.Ser433=) c.1212T= (p.Ser404=) c.1320T= (p.Ser440=) c.1317T= (p.Ser439=) c.1236T= (p.Ser412=) c.1233T= (p.Ser411=) | |
X | g.20172797A>C | CA515614070 | RPS6KA3 | c.1302T>G (p.Ser434=) c.1215T>G (p.Ser405=) c.1218T>G (p.Ser406=) c.920T>G (n.920T>G) c.*523T>G (n.*523T>G) n.68T>G c.1299T>G (p.Ser433=) c.1212T>G (p.Ser404=) c.1320T>G (p.Ser440=) c.1317T>G (p.Ser439=) c.1236T>G (p.Ser412=) c.1233T>G (p.Ser411=) | |
X | g.20172797A>G | CA515614072 | RPS6KA3 | c.1302T>C (p.Ser434=) c.1215T>C (p.Ser405=) c.1218T>C (p.Ser406=) c.920T>C (n.920T>C) c.*523T>C (n.*523T>C) n.68T>C c.1299T>C (p.Ser433=) c.1212T>C (p.Ser404=) c.1320T>C (p.Ser440=) c.1317T>C (p.Ser439=) c.1236T>C (p.Ser412=) c.1233T>C (p.Ser411=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20172797A>T | CA515614071 | RPS6KA3 | c.1302T>A (p.Ser434=) c.1215T>A (p.Ser405=) c.1218T>A (p.Ser406=) c.920T>A (n.920T>A) c.*523T>A (n.*523T>A) n.68T>A c.1299T>A (p.Ser433=) c.1212T>A (p.Ser404=) c.1320T>A (p.Ser440=) c.1317T>A (p.Ser439=) c.1236T>A (p.Ser412=) c.1233T>A (p.Ser411=) | |
X | g.20172798G>A | CA412516232 | RPS6KA3 | c.1301C>T (p.Ser434Phe) c.1214C>T (p.Ser405Phe) c.1217C>T (p.Ser406Phe) c.919C>T (n.919C>T) c.*522C>T (n.*522C>T) n.67C>T c.1298C>T (p.Ser433Phe) c.1211C>T (p.Ser404Phe) c.1319C>T (p.Ser440Phe) c.1316C>T (p.Ser439Phe) c.1235C>T (p.Ser412Phe) c.1232C>T (p.Ser411Phe) | |
X | g.20172798G>C | CA412516233 | RPS6KA3 | c.1301C>G (p.Ser434Cys) c.1214C>G (p.Ser405Cys) c.1217C>G (p.Ser406Cys) c.919C>G (n.919C>G) c.*522C>G (n.*522C>G) n.67C>G c.1298C>G (p.Ser433Cys) c.1211C>G (p.Ser404Cys) c.1319C>G (p.Ser440Cys) c.1316C>G (p.Ser439Cys) c.1235C>G (p.Ser412Cys) c.1232C>G (p.Ser411Cys) | |
X | g.20172798G>T | CA412516231 | RPS6KA3 | c.1301C>A (p.Ser434Tyr) c.1214C>A (p.Ser405Tyr) c.1217C>A (p.Ser406Tyr) c.919C>A (n.919C>A) c.*522C>A (n.*522C>A) n.67C>A c.1298C>A (p.Ser433Tyr) c.1211C>A (p.Ser404Tyr) c.1319C>A (p.Ser440Tyr) c.1316C>A (p.Ser439Tyr) c.1235C>A (p.Ser412Tyr) c.1232C>A (p.Ser411Tyr) | |
X | g.20172799A>C | CA412516235 | RPS6KA3 | c.1300T>G (p.Ser434Ala) c.1213T>G (p.Ser405Ala) c.1216T>G (p.Ser406Ala) c.918T>G (n.918T>G) c.*521T>G (n.*521T>G) n.66T>G c.1297T>G (p.Ser433Ala) c.1210T>G (p.Ser404Ala) c.1318T>G (p.Ser440Ala) c.1315T>G (p.Ser439Ala) c.1234T>G (p.Ser412Ala) c.1231T>G (p.Ser411Ala) | |
X | g.20172799A>G | CA412516234 | RPS6KA3 | c.1300T>C (p.Ser434Pro) c.1213T>C (p.Ser405Pro) c.1216T>C (p.Ser406Pro) c.918T>C (n.918T>C) c.*521T>C (n.*521T>C) n.66T>C c.1297T>C (p.Ser433Pro) c.1210T>C (p.Ser404Pro) c.1318T>C (p.Ser440Pro) c.1315T>C (p.Ser439Pro) c.1234T>C (p.Ser412Pro) c.1231T>C (p.Ser411Pro) | gnomAD v4 |
X | g.20172799A>T | CA412516237 | RPS6KA3 | c.1300T>A (p.Ser434Thr) c.1213T>A (p.Ser405Thr) c.1216T>A (p.Ser406Thr) c.918T>A (n.918T>A) c.*521T>A (n.*521T>A) n.66T>A c.1297T>A (p.Ser433Thr) c.1210T>A (p.Ser404Thr) c.1318T>A (p.Ser440Thr) c.1315T>A (p.Ser439Thr) c.1234T>A (p.Ser412Thr) c.1231T>A (p.Ser411Thr) | |
X | g.20172800G>A | CA515614073 | RPS6KA3 | c.1299C>T (p.Tyr433=) c.1212C>T (p.Tyr404=) c.1215C>T (p.Tyr405=) c.917C>T (n.917C>T) c.*520C>T (n.*520C>T) n.65C>T c.1296C>T (p.Tyr432=) c.1209C>T (p.Tyr403=) c.1317C>T (p.Tyr439=) c.1314C>T (p.Tyr438=) c.1233C>T (p.Tyr411=) c.1230C>T (p.Tyr410=) | |
X | g.20172800G>C | CA412516239 | RPS6KA3 | c.1299C>G (p.Tyr433Ter) c.1212C>G (p.Tyr404Ter) c.1215C>G (p.Tyr405Ter) c.917C>G (n.917C>G) c.*520C>G (n.*520C>G) n.65C>G c.1296C>G (p.Tyr432Ter) c.1209C>G (p.Tyr403Ter) c.1317C>G (p.Tyr439Ter) c.1314C>G (p.Tyr438Ter) c.1233C>G (p.Tyr411Ter) c.1230C>G (p.Tyr410Ter) | |
X | g.20172800G>T | CA412516240 | RPS6KA3 | c.1299C>A (p.Tyr433Ter) c.1212C>A (p.Tyr404Ter) c.1215C>A (p.Tyr405Ter) c.917C>A (n.917C>A) c.*520C>A (n.*520C>A) n.65C>A c.1296C>A (p.Tyr432Ter) c.1209C>A (p.Tyr403Ter) c.1317C>A (p.Tyr439Ter) c.1314C>A (p.Tyr438Ter) c.1233C>A (p.Tyr411Ter) c.1230C>A (p.Tyr410Ter) | |
X | g.20172801T>A | CA412516243 | RPS6KA3 | c.1298A>T (p.Tyr433Phe) c.1211A>T (p.Tyr404Phe) c.1214A>T (p.Tyr405Phe) c.916A>T (n.916A>T) c.*519A>T (n.*519A>T) n.64A>T c.1295A>T (p.Tyr432Phe) c.1208A>T (p.Tyr403Phe) c.1316A>T (p.Tyr439Phe) c.1313A>T (p.Tyr438Phe) c.1232A>T (p.Tyr411Phe) c.1229A>T (p.Tyr410Phe) | |
X | g.20172801T>C | CA412516244 | RPS6KA3 | c.1298A>G (p.Tyr433Cys) c.1211A>G (p.Tyr404Cys) c.1214A>G (p.Tyr405Cys) c.916A>G (n.916A>G) c.*519A>G (n.*519A>G) n.64A>G c.1295A>G (p.Tyr432Cys) c.1208A>G (p.Tyr403Cys) c.1316A>G (p.Tyr439Cys) c.1313A>G (p.Tyr438Cys) c.1232A>G (p.Tyr411Cys) c.1229A>G (p.Tyr410Cys) | |
X | g.20172801T>G | CA412516246 | RPS6KA3 | c.1298A>C (p.Tyr433Ser) c.1211A>C (p.Tyr404Ser) c.1214A>C (p.Tyr405Ser) c.916A>C (n.916A>C) c.*519A>C (n.*519A>C) n.64A>C c.1295A>C (p.Tyr432Ser) c.1208A>C (p.Tyr403Ser) c.1316A>C (p.Tyr439Ser) c.1313A>C (p.Tyr438Ser) c.1232A>C (p.Tyr411Ser) c.1229A>C (p.Tyr410Ser) | |
X | g.20172802A>C | CA412516248 | RPS6KA3 | c.1297T>G (p.Tyr433Asp) c.1210T>G (p.Tyr404Asp) c.1213T>G (p.Tyr405Asp) c.915T>G (n.915T>G) c.*518T>G (n.*518T>G) n.63T>G c.1294T>G (p.Tyr432Asp) c.1207T>G (p.Tyr403Asp) c.1315T>G (p.Tyr439Asp) c.1312T>G (p.Tyr438Asp) c.1231T>G (p.Tyr411Asp) c.1228T>G (p.Tyr410Asp) | |
X | g.20172802A>G | CA412516252 | RPS6KA3 | c.1297T>C (p.Tyr433His) c.1210T>C (p.Tyr404His) c.1213T>C (p.Tyr405His) c.915T>C (n.915T>C) c.*518T>C (n.*518T>C) n.63T>C c.1294T>C (p.Tyr432His) c.1207T>C (p.Tyr403His) c.1315T>C (p.Tyr439His) c.1312T>C (p.Tyr438His) c.1231T>C (p.Tyr411His) c.1228T>C (p.Tyr410His) | |
X | g.20172802A>T | CA412516255 | RPS6KA3 | c.1297T>A (p.Tyr433Asn) c.1210T>A (p.Tyr404Asn) c.1213T>A (p.Tyr405Asn) c.915T>A (n.915T>A) c.*518T>A (n.*518T>A) n.63T>A c.1294T>A (p.Tyr432Asn) c.1207T>A (p.Tyr403Asn) c.1315T>A (p.Tyr439Asn) c.1312T>A (p.Tyr438Asn) c.1231T>A (p.Tyr411Asn) c.1228T>A (p.Tyr410Asn) | |
X | g.20172803G>A | CA10366135 | RPS6KA3 | c.1296C>T (p.Ser432=) c.1209C>T (p.Ser403=) c.1212C>T (p.Ser404=) c.914C>T (n.914C>T) c.*517C>T (n.*517C>T) n.62C>T c.1293C>T (p.Ser431=) c.1206C>T (p.Ser402=) c.1314C>T (p.Ser438=) c.1311C>T (p.Ser437=) c.1230C>T (p.Ser410=) c.1227C>T (p.Ser409=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20172803G>C | CA515614074 | RPS6KA3 | c.1296C>G (p.Ser432=) c.1209C>G (p.Ser403=) c.1212C>G (p.Ser404=) c.914C>G (n.914C>G) c.*517C>G (n.*517C>G) n.62C>G c.1293C>G (p.Ser431=) c.1206C>G (p.Ser402=) c.1314C>G (p.Ser438=) c.1311C>G (p.Ser437=) c.1230C>G (p.Ser410=) c.1227C>G (p.Ser409=) | |
X | g.20172803G= | CA2418508460 | RPS6KA3 | c.1296C= (p.Ser432=) c.1209C= (p.Ser403=) c.1212C= (p.Ser404=) c.914C= (n.914C=) c.*517C= (n.*517C=) n.62C= c.1293C= (p.Ser431=) c.1206C= (p.Ser402=) c.1314C= (p.Ser438=) c.1311C= (p.Ser437=) c.1230C= (p.Ser410=) c.1227C= (p.Ser409=) | |
X | g.20172803G>T | CA515614075 | RPS6KA3 | c.1296C>A (p.Ser432=) c.1209C>A (p.Ser403=) c.1212C>A (p.Ser404=) c.914C>A (n.914C>A) c.*517C>A (n.*517C>A) n.62C>A c.1293C>A (p.Ser431=) c.1206C>A (p.Ser402=) c.1314C>A (p.Ser438=) c.1311C>A (p.Ser437=) c.1230C>A (p.Ser410=) c.1227C>A (p.Ser409=) | |
X | g.20172804G>A | CA412516260 | RPS6KA3 | c.1295C>T (p.Ser432Phe) c.1208C>T (p.Ser403Phe) c.1211C>T (p.Ser404Phe) c.913C>T (n.913C>T) c.*516C>T (n.*516C>T) n.61C>T c.1292C>T (p.Ser431Phe) c.1205C>T (p.Ser402Phe) c.1313C>T (p.Ser438Phe) c.1310C>T (p.Ser437Phe) c.1229C>T (p.Ser410Phe) c.1226C>T (p.Ser409Phe) | dbSNP gnomAD v3 gnomAD v4 |
X | g.20172804G>C | CA412516261 | RPS6KA3 | c.1295C>G (p.Ser432Cys) c.1208C>G (p.Ser403Cys) c.1211C>G (p.Ser404Cys) c.913C>G (n.913C>G) c.*516C>G (n.*516C>G) n.61C>G c.1292C>G (p.Ser431Cys) c.1205C>G (p.Ser402Cys) c.1313C>G (p.Ser438Cys) c.1310C>G (p.Ser437Cys) c.1229C>G (p.Ser410Cys) c.1226C>G (p.Ser409Cys) | |
X | g.20172804G= | CA2418508461 | RPS6KA3 | c.1295C= (p.Ser432=) c.1208C= (p.Ser403=) c.1211C= (p.Ser404=) c.913C= (n.913C=) c.*516C= (n.*516C=) n.61C= c.1292C= (p.Ser431=) c.1205C= (p.Ser402=) c.1313C= (p.Ser438=) c.1310C= (p.Ser437=) c.1229C= (p.Ser410=) c.1226C= (p.Ser409=) | |
X | g.20172804G>T | CA412516266 | RPS6KA3 | c.1295C>A (p.Ser432Tyr) c.1208C>A (p.Ser403Tyr) c.1211C>A (p.Ser404Tyr) c.913C>A (n.913C>A) c.*516C>A (n.*516C>A) n.61C>A c.1292C>A (p.Ser431Tyr) c.1205C>A (p.Ser402Tyr) c.1313C>A (p.Ser438Tyr) c.1310C>A (p.Ser437Tyr) c.1229C>A (p.Ser410Tyr) c.1226C>A (p.Ser409Tyr) | |
X | g.20172805A>C | CA412516276 | RPS6KA3 | c.1294T>G (p.Ser432Ala) c.1207T>G (p.Ser403Ala) c.1210T>G (p.Ser404Ala) c.912T>G (n.912T>G) c.*515T>G (n.*515T>G) n.60T>G c.1291T>G (p.Ser431Ala) c.1204T>G (p.Ser402Ala) c.1312T>G (p.Ser438Ala) c.1309T>G (p.Ser437Ala) c.1228T>G (p.Ser410Ala) c.1225T>G (p.Ser409Ala) | |
X | g.20172805A>G | CA412516273 | RPS6KA3 | c.1294T>C (p.Ser432Pro) c.1207T>C (p.Ser403Pro) c.1210T>C (p.Ser404Pro) c.912T>C (n.912T>C) c.*515T>C (n.*515T>C) n.60T>C c.1291T>C (p.Ser431Pro) c.1204T>C (p.Ser402Pro) c.1312T>C (p.Ser438Pro) c.1309T>C (p.Ser437Pro) c.1228T>C (p.Ser410Pro) c.1225T>C (p.Ser409Pro) | |
X | g.20172805A>T | CA412516270 | RPS6KA3 | c.1294T>A (p.Ser432Thr) c.1207T>A (p.Ser403Thr) c.1210T>A (p.Ser404Thr) c.912T>A (n.912T>A) c.*515T>A (n.*515T>A) n.60T>A c.1291T>A (p.Ser431Thr) c.1204T>A (p.Ser402Thr) c.1312T>A (p.Ser438Thr) c.1309T>A (p.Ser437Thr) c.1228T>A (p.Ser410Thr) c.1225T>A (p.Ser409Thr) | |
X | g.20172806G>A | CA515614076 | RPS6KA3 | c.1293C>T (p.Gly431=) c.1206C>T (p.Gly402=) c.1209C>T (p.Gly403=) c.911C>T (n.911C>T) c.*514C>T (n.*514C>T) n.59C>T c.1290C>T (p.Gly430=) c.1203C>T (p.Gly401=) c.1311C>T (p.Gly437=) c.1308C>T (p.Gly436=) c.1227C>T (p.Gly409=) c.1224C>T (p.Gly408=) | |
X | g.20172806G>C | CA515614077 | RPS6KA3 | c.1293C>G (p.Gly431=) c.1206C>G (p.Gly402=) c.1209C>G (p.Gly403=) c.911C>G (n.911C>G) c.*514C>G (n.*514C>G) n.59C>G c.1290C>G (p.Gly430=) c.1203C>G (p.Gly401=) c.1311C>G (p.Gly437=) c.1308C>G (p.Gly436=) c.1227C>G (p.Gly409=) c.1224C>G (p.Gly408=) | |
X | g.20172806G>T | CA515614078 | RPS6KA3 | c.1293C>A (p.Gly431=) c.1206C>A (p.Gly402=) c.1209C>A (p.Gly403=) c.911C>A (n.911C>A) c.*514C>A (n.*514C>A) n.59C>A c.1290C>A (p.Gly430=) c.1203C>A (p.Gly401=) c.1311C>A (p.Gly437=) c.1308C>A (p.Gly436=) c.1227C>A (p.Gly409=) c.1224C>A (p.Gly408=) | |
X | g.20172807C>A | CA412516277 | RPS6KA3 | c.1292G>T (p.Gly431Val) c.1205G>T (p.Gly402Val) c.1208G>T (p.Gly403Val) c.910G>T (n.910G>T) c.*513G>T (n.*513G>T) n.58G>T c.1289G>T (p.Gly430Val) c.1202G>T (p.Gly401Val) c.1310G>T (p.Gly437Val) c.1307G>T (p.Gly436Val) c.1226G>T (p.Gly409Val) c.1223G>T (p.Gly408Val) | |
X | g.20172807C>G | CA412516278 | RPS6KA3 | c.1292G>C (p.Gly431Ala) c.1205G>C (p.Gly402Ala) c.1208G>C (p.Gly403Ala) c.910G>C (n.910G>C) c.*513G>C (n.*513G>C) n.58G>C c.1289G>C (p.Gly430Ala) c.1202G>C (p.Gly401Ala) c.1310G>C (p.Gly437Ala) c.1307G>C (p.Gly436Ala) c.1226G>C (p.Gly409Ala) c.1223G>C (p.Gly408Ala) | |
X | g.20172807C>T | CA412516279 | RPS6KA3 | c.1292G>A (p.Gly431Asp) c.1205G>A (p.Gly402Asp) c.1208G>A (p.Gly403Asp) c.910G>A (n.910G>A) c.*513G>A (n.*513G>A) n.58G>A c.1289G>A (p.Gly430Asp) c.1202G>A (p.Gly401Asp) c.1310G>A (p.Gly437Asp) c.1307G>A (p.Gly436Asp) c.1226G>A (p.Gly409Asp) c.1223G>A (p.Gly408Asp) | |
X | g.20172807_20172808insAGTTTA | CA2527202632 | RPS6KA3 | c.1291_1292insTAAACT (p.Gly431delinsValAsnCys) c.1204_1205insTAAACT (p.Gly402delinsValAsnCys) c.1207_1208insTAAACT (p.Gly403delinsValAsnCys) c.909_910insTAAACT (n.909_910insTAAACT) c.*512_*513insTAAACT (n.*512_*513insTAAACT) n.57_58insTAAACT c.1288_1289insTAAACT (p.Gly430delinsValAsnCys) c.1201_1202insTAAACT (p.Gly401delinsValAsnCys) c.1309_1310insTAAACT (p.Gly437delinsValAsnCys) c.1306_1307insTAAACT (p.Gly436delinsValAsnCys) c.1225_1226insTAAACT (p.Gly409delinsValAsnCys) c.1222_1223insTAAACT (p.Gly408delinsValAsnCys) | |
X | g.20172808C>A | CA412516281 | RPS6KA3 | c.1291G>T (p.Gly431Cys) c.1204G>T (p.Gly402Cys) c.1207G>T (p.Gly403Cys) c.909G>T (n.909G>T) c.*512G>T (n.*512G>T) n.57G>T c.1288G>T (p.Gly430Cys) c.1201G>T (p.Gly401Cys) c.1309G>T (p.Gly437Cys) c.1306G>T (p.Gly436Cys) c.1225G>T (p.Gly409Cys) c.1222G>T (p.Gly408Cys) | ClinVar COSMIC |
X | g.20172808C>G | CA412516283 | RPS6KA3 | c.1291G>C (p.Gly431Arg) c.1204G>C (p.Gly402Arg) c.1207G>C (p.Gly403Arg) c.909G>C (n.909G>C) c.*512G>C (n.*512G>C) n.57G>C c.1288G>C (p.Gly430Arg) c.1201G>C (p.Gly401Arg) c.1309G>C (p.Gly437Arg) c.1306G>C (p.Gly436Arg) c.1225G>C (p.Gly409Arg) c.1222G>C (p.Gly408Arg) | |
X | g.20172808C>T | CA412516286 | RPS6KA3 | c.1291G>A (p.Gly431Ser) c.1204G>A (p.Gly402Ser) c.1207G>A (p.Gly403Ser) c.909G>A (n.909G>A) c.*512G>A (n.*512G>A) n.57G>A c.1288G>A (p.Gly430Ser) c.1201G>A (p.Gly401Ser) c.1309G>A (p.Gly437Ser) c.1306G>A (p.Gly436Ser) c.1225G>A (p.Gly409Ser) c.1222G>A (p.Gly408Ser) | |
X | g.20172809A>C | CA515614079 | RPS6KA3 | c.1290T>G (p.Val430=) c.1203T>G (p.Val401=) c.1206T>G (p.Val402=) c.908T>G (n.908T>G) c.*511T>G (n.*511T>G) n.56T>G c.1287T>G (p.Val429=) c.1200T>G (p.Val400=) c.1308T>G (p.Val436=) c.1305T>G (p.Val435=) c.1224T>G (p.Val408=) c.1221T>G (p.Val407=) | |
X | g.20172809A>G | CA515614080 | RPS6KA3 | c.1290T>C (p.Val430=) c.1203T>C (p.Val401=) c.1206T>C (p.Val402=) c.908T>C (n.908T>C) c.*511T>C (n.*511T>C) n.56T>C c.1287T>C (p.Val429=) c.1200T>C (p.Val400=) c.1308T>C (p.Val436=) c.1305T>C (p.Val435=) c.1224T>C (p.Val408=) c.1221T>C (p.Val407=) | |
X | g.20172809A>T | CA515614081 | RPS6KA3 | c.1290T>A (p.Val430=) c.1203T>A (p.Val401=) c.1206T>A (p.Val402=) c.908T>A (n.908T>A) c.*511T>A (n.*511T>A) n.56T>A c.1287T>A (p.Val429=) c.1200T>A (p.Val400=) c.1308T>A (p.Val436=) c.1305T>A (p.Val435=) c.1224T>A (p.Val408=) c.1221T>A (p.Val407=) | |
X | g.20172810A>C | CA412516294 | RPS6KA3 | c.1289T>G (p.Val430Gly) c.1202T>G (p.Val401Gly) c.1205T>G (p.Val402Gly) c.907T>G (n.907T>G) c.*510T>G (n.*510T>G) n.55T>G c.1286T>G (p.Val429Gly) c.1199T>G (p.Val400Gly) c.1307T>G (p.Val436Gly) c.1304T>G (p.Val435Gly) c.1223T>G (p.Val408Gly) c.1220T>G (p.Val407Gly) | |
X | g.20172810A>G | CA412516309 | RPS6KA3 | c.1289T>C (p.Val430Ala) c.1202T>C (p.Val401Ala) c.1205T>C (p.Val402Ala) c.907T>C (n.907T>C) c.*510T>C (n.*510T>C) n.55T>C c.1286T>C (p.Val429Ala) c.1199T>C (p.Val400Ala) c.1307T>C (p.Val436Ala) c.1304T>C (p.Val435Ala) c.1223T>C (p.Val408Ala) c.1220T>C (p.Val407Ala) | |
X | g.20172810A>T | CA412516312 | RPS6KA3 | c.1289T>A (p.Val430Asp) c.1202T>A (p.Val401Asp) c.1205T>A (p.Val402Asp) c.907T>A (n.907T>A) c.*510T>A (n.*510T>A) n.55T>A c.1286T>A (p.Val429Asp) c.1199T>A (p.Val400Asp) c.1307T>A (p.Val436Asp) c.1304T>A (p.Val435Asp) c.1223T>A (p.Val408Asp) c.1220T>A (p.Val407Asp) | |
X | g.20172811C>A | CA412516314 | RPS6KA3 | c.1288G>T (p.Val430Phe) c.1201G>T (p.Val401Phe) c.1204G>T (p.Val402Phe) c.906G>T (n.906G>T) c.*509G>T (n.*509G>T) n.54G>T c.1285G>T (p.Val429Phe) c.1198G>T (p.Val400Phe) c.1306G>T (p.Val436Phe) c.1303G>T (p.Val435Phe) c.1222G>T (p.Val408Phe) c.1219G>T (p.Val407Phe) | |
X | g.20172811C>G | CA412516319 | RPS6KA3 | c.1288G>C (p.Val430Leu) c.1201G>C (p.Val401Leu) c.1204G>C (p.Val402Leu) c.906G>C (n.906G>C) c.*509G>C (n.*509G>C) n.54G>C c.1285G>C (p.Val429Leu) c.1198G>C (p.Val400Leu) c.1306G>C (p.Val436Leu) c.1303G>C (p.Val435Leu) c.1222G>C (p.Val408Leu) c.1219G>C (p.Val407Leu) | |
X | g.20172811C>T | CA412516320 | RPS6KA3 | c.1288G>A (p.Val430Ile) c.1201G>A (p.Val401Ile) c.1204G>A (p.Val402Ile) c.906G>A (n.906G>A) c.*509G>A (n.*509G>A) n.54G>A c.1285G>A (p.Val429Ile) c.1198G>A (p.Val400Ile) c.1306G>A (p.Val436Ile) c.1303G>A (p.Val435Ile) c.1222G>A (p.Val408Ile) c.1219G>A (p.Val407Ile) | |
X | g.20172812T>A | CA515614084 | RPS6KA3 | c.1287A>T (p.Gly429=) c.1200A>T (p.Gly400=) c.1203A>T (p.Gly401=) c.905A>T (n.905A>T) c.*508A>T (n.*508A>T) n.53A>T c.1284A>T (p.Gly428=) c.1197A>T (p.Gly399=) c.1305A>T (p.Gly435=) c.1302A>T (p.Gly434=) c.1221A>T (p.Gly407=) c.1218A>T (p.Gly406=) | dbSNP gnomAD v4 |
X | g.20172812T>C | CA515614082 | RPS6KA3 | c.1287A>G (p.Gly429=) c.1200A>G (p.Gly400=) c.1203A>G (p.Gly401=) c.905A>G (n.905A>G) c.*508A>G (n.*508A>G) n.53A>G c.1284A>G (p.Gly428=) c.1197A>G (p.Gly399=) c.1305A>G (p.Gly435=) c.1302A>G (p.Gly434=) c.1221A>G (p.Gly407=) c.1218A>G (p.Gly406=) | gnomAD v4 |
X | g.20172812T>G | CA515614083 | RPS6KA3 | c.1287A>C (p.Gly429=) c.1200A>C (p.Gly400=) c.1203A>C (p.Gly401=) c.905A>C (n.905A>C) c.*508A>C (n.*508A>C) n.53A>C c.1284A>C (p.Gly428=) c.1197A>C (p.Gly399=) c.1305A>C (p.Gly435=) c.1302A>C (p.Gly434=) c.1221A>C (p.Gly407=) c.1218A>C (p.Gly406=) | |
X | g.20172812T= | CA2418508462 | RPS6KA3 | c.1287A= (p.Gly429=) c.1200A= (p.Gly400=) c.1203A= (p.Gly401=) c.905A= (n.905A=) c.*508A= (n.*508A=) n.53A= c.1284A= (p.Gly428=) c.1197A= (p.Gly399=) c.1305A= (p.Gly435=) c.1302A= (p.Gly434=) c.1221A= (p.Gly407=) c.1218A= (p.Gly406=) | |
X | g.20172813C>A | CA412516334 | RPS6KA3 | c.1286G>T (p.Gly429Val) c.1199G>T (p.Gly400Val) c.1202G>T (p.Gly401Val) c.904G>T (n.904G>T) c.*507G>T (n.*507G>T) n.52G>T c.1283G>T (p.Gly428Val) c.1196G>T (p.Gly399Val) c.1304G>T (p.Gly435Val) c.1301G>T (p.Gly434Val) c.1220G>T (p.Gly407Val) c.1217G>T (p.Gly406Val) | |
X | g.20172813C>G | CA412516339 | RPS6KA3 | c.1286G>C (p.Gly429Ala) c.1199G>C (p.Gly400Ala) c.1202G>C (p.Gly401Ala) c.904G>C (n.904G>C) c.*507G>C (n.*507G>C) n.52G>C c.1283G>C (p.Gly428Ala) c.1196G>C (p.Gly399Ala) c.1304G>C (p.Gly435Ala) c.1301G>C (p.Gly434Ala) c.1220G>C (p.Gly407Ala) c.1217G>C (p.Gly406Ala) | |
X | g.20172813C>T | CA412516323 | RPS6KA3 | c.1286G>A (p.Gly429Glu) c.1199G>A (p.Gly400Glu) c.1202G>A (p.Gly401Glu) c.904G>A (n.904G>A) c.*507G>A (n.*507G>A) n.52G>A c.1283G>A (p.Gly428Glu) c.1196G>A (p.Gly399Glu) c.1304G>A (p.Gly435Glu) c.1301G>A (p.Gly434Glu) c.1220G>A (p.Gly407Glu) c.1217G>A (p.Gly406Glu) | |
X | g.20172814C>A | CA412516347 | RPS6KA3 | c.1285G>T (p.Gly429Ter) c.1198G>T (p.Gly400Ter) c.1201G>T (p.Gly401Ter) c.903G>T (n.903G>T) c.*506G>T (n.*506G>T) n.51G>T c.1282G>T (p.Gly428Ter) c.1195G>T (p.Gly399Ter) c.1303G>T (p.Gly435Ter) c.1300G>T (p.Gly434Ter) c.1219G>T (p.Gly407Ter) c.1216G>T (p.Gly406Ter) | |
X | g.20172814C>G | CA412516348 | RPS6KA3 | c.1285G>C (p.Gly429Arg) c.1198G>C (p.Gly400Arg) c.1201G>C (p.Gly401Arg) c.903G>C (n.903G>C) c.*506G>C (n.*506G>C) n.51G>C c.1282G>C (p.Gly428Arg) c.1195G>C (p.Gly399Arg) c.1303G>C (p.Gly435Arg) c.1300G>C (p.Gly434Arg) c.1219G>C (p.Gly407Arg) c.1216G>C (p.Gly406Arg) | |
X | g.20172814C>T | CA412516349 | RPS6KA3 | c.1285G>A (p.Gly429Arg) c.1198G>A (p.Gly400Arg) c.1201G>A (p.Gly401Arg) c.903G>A (n.903G>A) c.*506G>A (n.*506G>A) n.51G>A c.1282G>A (p.Gly428Arg) c.1195G>A (p.Gly399Arg) c.1303G>A (p.Gly435Arg) c.1300G>A (p.Gly434Arg) c.1219G>A (p.Gly407Arg) c.1216G>A (p.Gly406Arg) | |
X | g.20172815A>C | CA412516350 | RPS6KA3 | c.1284T>G (p.Ile428Met) c.1197T>G (p.Ile399Met) c.1200T>G (p.Ile400Met) c.902T>G (n.902T>G) c.*505T>G (n.*505T>G) n.50T>G c.1281T>G (p.Ile427Met) c.1194T>G (p.Ile398Met) c.1302T>G (p.Ile434Met) c.1299T>G (p.Ile433Met) c.1218T>G (p.Ile406Met) c.1215T>G (p.Ile405Met) | |
X | g.20172815A>G | CA515614086 | RPS6KA3 | c.1284T>C (p.Ile428=) c.1197T>C (p.Ile399=) c.1200T>C (p.Ile400=) c.902T>C (n.902T>C) c.*505T>C (n.*505T>C) n.50T>C c.1281T>C (p.Ile427=) c.1194T>C (p.Ile398=) c.1302T>C (p.Ile434=) c.1299T>C (p.Ile433=) c.1218T>C (p.Ile406=) c.1215T>C (p.Ile405=) | |
X | g.20172815A>T | CA515614085 | RPS6KA3 | c.1284T>A (p.Ile428=) c.1197T>A (p.Ile399=) c.1200T>A (p.Ile400=) c.902T>A (n.902T>A) c.*505T>A (n.*505T>A) n.50T>A c.1281T>A (p.Ile427=) c.1194T>A (p.Ile398=) c.1302T>A (p.Ile434=) c.1299T>A (p.Ile433=) c.1218T>A (p.Ile406=) c.1215T>A (p.Ile405=) | |
X | g.20172816A>C | CA412516351 | RPS6KA3 | c.1283T>G (p.Ile428Ser) c.1196T>G (p.Ile399Ser) c.1199T>G (p.Ile400Ser) c.901T>G (n.901T>G) c.*504T>G (n.*504T>G) n.49T>G c.1280T>G (p.Ile427Ser) c.1193T>G (p.Ile398Ser) c.1301T>G (p.Ile434Ser) c.1298T>G (p.Ile433Ser) c.1217T>G (p.Ile406Ser) c.1214T>G (p.Ile405Ser) | |
X | g.20172816A>G | CA412516354 | RPS6KA3 | c.1283T>C (p.Ile428Thr) c.1196T>C (p.Ile399Thr) c.1199T>C (p.Ile400Thr) c.901T>C (n.901T>C) c.*504T>C (n.*504T>C) n.49T>C c.1280T>C (p.Ile427Thr) c.1193T>C (p.Ile398Thr) c.1301T>C (p.Ile434Thr) c.1298T>C (p.Ile433Thr) c.1217T>C (p.Ile406Thr) c.1214T>C (p.Ile405Thr) | |
X | g.20172816A>T | CA412516361 | RPS6KA3 | c.1283T>A (p.Ile428Asn) c.1196T>A (p.Ile399Asn) c.1199T>A (p.Ile400Asn) c.901T>A (n.901T>A) c.*504T>A (n.*504T>A) n.49T>A c.1280T>A (p.Ile427Asn) c.1193T>A (p.Ile398Asn) c.1301T>A (p.Ile434Asn) c.1298T>A (p.Ile433Asn) c.1217T>A (p.Ile406Asn) c.1214T>A (p.Ile405Asn) | |
X | g.20172817T>A | CA412516366 | RPS6KA3 | c.1282A>T (p.Ile428Phe) c.1195A>T (p.Ile399Phe) c.1198A>T (p.Ile400Phe) c.900A>T (n.900A>T) c.*503A>T (n.*503A>T) n.48A>T c.1279A>T (p.Ile427Phe) c.1192A>T (p.Ile398Phe) c.1300A>T (p.Ile434Phe) c.1297A>T (p.Ile433Phe) c.1216A>T (p.Ile406Phe) c.1213A>T (p.Ile405Phe) | |
X | g.20172817T>C | CA412516368 | RPS6KA3 | c.1282A>G (p.Ile428Val) c.1195A>G (p.Ile399Val) c.1198A>G (p.Ile400Val) c.900A>G (n.900A>G) c.*503A>G (n.*503A>G) n.48A>G c.1279A>G (p.Ile427Val) c.1192A>G (p.Ile398Val) c.1300A>G (p.Ile434Val) c.1297A>G (p.Ile433Val) c.1216A>G (p.Ile406Val) c.1213A>G (p.Ile405Val) | |
X | g.20172817T>G | CA412516372 | RPS6KA3 | c.1282A>C (p.Ile428Leu) c.1195A>C (p.Ile399Leu) c.1198A>C (p.Ile400Leu) c.900A>C (n.900A>C) c.*503A>C (n.*503A>C) n.48A>C c.1279A>C (p.Ile427Leu) c.1192A>C (p.Ile398Leu) c.1300A>C (p.Ile434Leu) c.1297A>C (p.Ile433Leu) c.1216A>C (p.Ile406Leu) c.1213A>C (p.Ile405Leu) | |
X | g.20172818A>C | CA412516385 | RPS6KA3 | c.1281T>G (p.Asp427Glu) c.1194T>G (p.Asp398Glu) c.1197T>G (p.Asp399Glu) c.899T>G (n.899T>G) c.*502T>G (n.*502T>G) n.47T>G c.1278T>G (p.Asp426Glu) c.1191T>G (p.Asp397Glu) c.1299T>G (p.Asp433Glu) c.1296T>G (p.Asp432Glu) c.1215T>G (p.Asp405Glu) c.1212T>G (p.Asp404Glu) | |
X | g.20172818A>G | CA515614087 | RPS6KA3 | c.1281T>C (p.Asp427=) c.1194T>C (p.Asp398=) c.1197T>C (p.Asp399=) c.899T>C (n.899T>C) c.*502T>C (n.*502T>C) n.47T>C c.1278T>C (p.Asp426=) c.1191T>C (p.Asp397=) c.1299T>C (p.Asp433=) c.1296T>C (p.Asp432=) c.1215T>C (p.Asp405=) c.1212T>C (p.Asp404=) | |
X | g.20172818A>T | CA412516386 | RPS6KA3 | c.1281T>A (p.Asp427Glu) c.1194T>A (p.Asp398Glu) c.1197T>A (p.Asp399Glu) c.899T>A (n.899T>A) c.*502T>A (n.*502T>A) n.47T>A c.1278T>A (p.Asp426Glu) c.1191T>A (p.Asp397Glu) c.1299T>A (p.Asp433Glu) c.1296T>A (p.Asp432Glu) c.1215T>A (p.Asp405Glu) c.1212T>A (p.Asp404Glu) | |
X | g.20172819T>A | CA412516388 | RPS6KA3 | c.1280A>T (p.Asp427Val) c.1193A>T (p.Asp398Val) c.1196A>T (p.Asp399Val) c.898A>T (n.898A>T) c.*501A>T (n.*501A>T) n.46A>T c.1277A>T (p.Asp426Val) c.1190A>T (p.Asp397Val) c.1298A>T (p.Asp433Val) c.1295A>T (p.Asp432Val) c.1214A>T (p.Asp405Val) c.1211A>T (p.Asp404Val) | |
X | g.20172819T>C | CA412516389 | RPS6KA3 | c.1280A>G (p.Asp427Gly) c.1193A>G (p.Asp398Gly) c.1196A>G (p.Asp399Gly) c.898A>G (n.898A>G) c.*501A>G (n.*501A>G) n.46A>G c.1277A>G (p.Asp426Gly) c.1190A>G (p.Asp397Gly) c.1298A>G (p.Asp433Gly) c.1295A>G (p.Asp432Gly) c.1214A>G (p.Asp405Gly) c.1211A>G (p.Asp404Gly) | |
X | g.20172819T>G | CA412516387 | RPS6KA3 | c.1280A>C (p.Asp427Ala) c.1193A>C (p.Asp398Ala) c.1196A>C (p.Asp399Ala) c.898A>C (n.898A>C) c.*501A>C (n.*501A>C) n.46A>C c.1277A>C (p.Asp426Ala) c.1190A>C (p.Asp397Ala) c.1298A>C (p.Asp433Ala) c.1295A>C (p.Asp432Ala) c.1214A>C (p.Asp405Ala) c.1211A>C (p.Asp404Ala) | |
X | g.20172820C>A | CA412516391 | RPS6KA3 | c.1279G>T (p.Asp427Tyr) c.1192G>T (p.Asp398Tyr) c.1195G>T (p.Asp399Tyr) c.897G>T (n.897G>T) c.*500G>T (n.*500G>T) n.45G>T c.1276G>T (p.Asp426Tyr) c.1189G>T (p.Asp397Tyr) c.1297G>T (p.Asp433Tyr) c.1294G>T (p.Asp432Tyr) c.1213G>T (p.Asp405Tyr) c.1210G>T (p.Asp404Tyr) | |
X | g.20172820C>G | CA412516392 | RPS6KA3 | c.1279G>C (p.Asp427His) c.1192G>C (p.Asp398His) c.1195G>C (p.Asp399His) c.897G>C (n.897G>C) c.*500G>C (n.*500G>C) n.45G>C c.1276G>C (p.Asp426His) c.1189G>C (p.Asp397His) c.1297G>C (p.Asp433His) c.1294G>C (p.Asp432His) c.1213G>C (p.Asp405His) c.1210G>C (p.Asp404His) | |
X | g.20172820C>T | CA412516393 | RPS6KA3 | c.1279G>A (p.Asp427Asn) c.1192G>A (p.Asp398Asn) c.1195G>A (p.Asp399Asn) c.897G>A (n.897G>A) c.*500G>A (n.*500G>A) n.45G>A c.1276G>A (p.Asp426Asn) c.1189G>A (p.Asp397Asn) c.1297G>A (p.Asp433Asn) c.1294G>A (p.Asp432Asn) c.1213G>A (p.Asp405Asn) c.1210G>A (p.Asp404Asn) | |
X | g.20172821T>A | CA412516394 | RPS6KA3 | c.1278A>T (p.Glu426Asp) c.1191A>T (p.Glu397Asp) c.1194A>T (p.Glu398Asp) c.896A>T (n.896A>T) c.*499A>T (n.*499A>T) n.44A>T c.1275A>T (p.Glu425Asp) c.1188A>T (p.Glu396Asp) c.1296A>T (p.Glu432Asp) c.1293A>T (p.Glu431Asp) c.1212A>T (p.Glu404Asp) c.1209A>T (p.Glu403Asp) | |
X | g.20172821T>C | CA515614088 | RPS6KA3 | c.1278A>G (p.Glu426=) c.1191A>G (p.Glu397=) c.1194A>G (p.Glu398=) c.896A>G (n.896A>G) c.*499A>G (n.*499A>G) n.44A>G c.1275A>G (p.Glu425=) c.1188A>G (p.Glu396=) c.1296A>G (p.Glu432=) c.1293A>G (p.Glu431=) c.1212A>G (p.Glu404=) c.1209A>G (p.Glu403=) | |
X | g.20172821T>G | CA412516396 | RPS6KA3 | c.1278A>C (p.Glu426Asp) c.1191A>C (p.Glu397Asp) c.1194A>C (p.Glu398Asp) c.896A>C (n.896A>C) c.*499A>C (n.*499A>C) n.44A>C c.1275A>C (p.Glu425Asp) c.1188A>C (p.Glu396Asp) c.1296A>C (p.Glu432Asp) c.1293A>C (p.Glu431Asp) c.1212A>C (p.Glu404Asp) c.1209A>C (p.Glu403Asp) | |
X | g.20172822T>A | CA412516403 | RPS6KA3 | c.1277A>T (p.Glu426Val) c.1190A>T (p.Glu397Val) c.1193A>T (p.Glu398Val) c.895A>T (n.895A>T) c.*498A>T (n.*498A>T) n.43A>T c.1274A>T (p.Glu425Val) c.1187A>T (p.Glu396Val) c.1295A>T (p.Glu432Val) c.1292A>T (p.Glu431Val) c.1211A>T (p.Glu404Val) c.1208A>T (p.Glu403Val) | |
X | g.20172822T>C | CA412516398 | RPS6KA3 | c.1277A>G (p.Glu426Gly) c.1190A>G (p.Glu397Gly) c.1193A>G (p.Glu398Gly) c.895A>G (n.895A>G) c.*498A>G (n.*498A>G) n.43A>G c.1274A>G (p.Glu425Gly) c.1187A>G (p.Glu396Gly) c.1295A>G (p.Glu432Gly) c.1292A>G (p.Glu431Gly) c.1211A>G (p.Glu404Gly) c.1208A>G (p.Glu403Gly) | |
X | g.20172822T>G | CA412516402 | RPS6KA3 | c.1277A>C (p.Glu426Ala) c.1190A>C (p.Glu397Ala) c.1193A>C (p.Glu398Ala) c.895A>C (n.895A>C) c.*498A>C (n.*498A>C) n.43A>C c.1274A>C (p.Glu425Ala) c.1187A>C (p.Glu396Ala) c.1295A>C (p.Glu432Ala) c.1292A>C (p.Glu431Ala) c.1211A>C (p.Glu404Ala) c.1208A>C (p.Glu403Ala) | |
X | g.20172823C>A | CA412516404 | RPS6KA3 | c.1276G>T (p.Glu426Ter) c.1189G>T (p.Glu397Ter) c.1192G>T (p.Glu398Ter) c.894G>T (n.894G>T) c.*497G>T (n.*497G>T) n.42G>T c.1273G>T (p.Glu425Ter) c.1186G>T (p.Glu396Ter) c.1294G>T (p.Glu432Ter) c.1291G>T (p.Glu431Ter) c.1210G>T (p.Glu404Ter) c.1207G>T (p.Glu403Ter) | |
X | g.20172823C>G | CA412516407 | RPS6KA3 | c.1276G>C (p.Glu426Gln) c.1189G>C (p.Glu397Gln) c.1192G>C (p.Glu398Gln) c.894G>C (n.894G>C) c.*497G>C (n.*497G>C) n.42G>C c.1273G>C (p.Glu425Gln) c.1186G>C (p.Glu396Gln) c.1294G>C (p.Glu432Gln) c.1291G>C (p.Glu431Gln) c.1210G>C (p.Glu404Gln) c.1207G>C (p.Glu403Gln) | |
X | g.20172823C>T | CA412516408 | RPS6KA3 | c.1276G>A (p.Glu426Lys) c.1189G>A (p.Glu397Lys) c.1192G>A (p.Glu398Lys) c.894G>A (n.894G>A) c.*497G>A (n.*497G>A) n.42G>A c.1273G>A (p.Glu425Lys) c.1186G>A (p.Glu396Lys) c.1294G>A (p.Glu432Lys) c.1291G>A (p.Glu431Lys) c.1210G>A (p.Glu404Lys) c.1207G>A (p.Glu403Lys) | |
X | g.20172824T>A | CA412516412 | RPS6KA3 | c.1275A>T (p.Lys425Asn) c.1188A>T (p.Lys396Asn) c.1191A>T (p.Lys397Asn) c.893A>T (n.893A>T) c.*496A>T (n.*496A>T) n.41A>T c.1272A>T (p.Lys424Asn) c.1185A>T (p.Lys395Asn) c.1293A>T (p.Lys431Asn) c.1290A>T (p.Lys430Asn) c.1209A>T (p.Lys403Asn) c.1206A>T (p.Lys402Asn) | |
X | g.20172824T>C | CA10366136 | RPS6KA3 | c.1275A>G (p.Lys425=) c.1188A>G (p.Lys396=) c.1191A>G (p.Lys397=) c.893A>G (n.893A>G) c.*496A>G (n.*496A>G) n.41A>G c.1272A>G (p.Lys424=) c.1185A>G (p.Lys395=) c.1293A>G (p.Lys431=) c.1290A>G (p.Lys430=) c.1209A>G (p.Lys403=) c.1206A>G (p.Lys402=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20172824T>G | CA412516415 | RPS6KA3 | c.1275A>C (p.Lys425Asn) c.1188A>C (p.Lys396Asn) c.1191A>C (p.Lys397Asn) c.893A>C (n.893A>C) c.*496A>C (n.*496A>C) n.41A>C c.1272A>C (p.Lys424Asn) c.1185A>C (p.Lys395Asn) c.1293A>C (p.Lys431Asn) c.1290A>C (p.Lys430Asn) c.1209A>C (p.Lys403Asn) c.1206A>C (p.Lys402Asn) | |
X | g.20172824T= | CA2418508463 | RPS6KA3 | c.1275A= (p.Lys425=) c.1188A= (p.Lys396=) c.1191A= (p.Lys397=) c.893A= (n.893A=) c.*496A= (n.*496A=) n.41A= c.1272A= (p.Lys424=) c.1185A= (p.Lys395=) c.1293A= (p.Lys431=) c.1290A= (p.Lys430=) c.1209A= (p.Lys403=) c.1206A= (p.Lys402=) | |
X | g.20172827del | CA2579569371 | RPS6KA3 | c.1275del (p.Glu426LysfsTer25) c.1188del (p.Glu397LysfsTer25) c.1191del (p.Glu398LysfsTer25) c.893del (n.893del) c.*496del (n.*496del) n.41del c.1272del (p.Glu425LysfsTer25) c.1185del (p.Glu396LysfsTer25) c.1293del (p.Glu432LysfsTer25) c.1290del (p.Glu431LysfsTer25) c.1209del (p.Glu404LysfsTer25) c.1206del (p.Glu403LysfsTer25) | |
X | g.20172826_20172827del | CA2819964415 | RPS6KA3 | c.1274_1275del (p.Lys425ArgfsTer17) c.1187_1188del (p.Lys396ArgfsTer17) c.1190_1191del (p.Lys397ArgfsTer17) c.892_893del (n.892_893del) c.*495_*496del (n.*495_*496del) n.40_41del c.1271_1272del (p.Lys424ArgfsTer17) c.1184_1185del (p.Lys395ArgfsTer17) c.1292_1293del (p.Lys431ArgfsTer17) c.1289_1290del (p.Lys430ArgfsTer17) c.1208_1209del (p.Lys403ArgfsTer17) c.1205_1206del (p.Lys402ArgfsTer17) | |
X | g.20172825T>A | CA412516434 | RPS6KA3 | c.1274A>T (p.Lys425Ile) c.1187A>T (p.Lys396Ile) c.1190A>T (p.Lys397Ile) c.892A>T (n.892A>T) c.*495A>T (n.*495A>T) n.40A>T c.1271A>T (p.Lys424Ile) c.1184A>T (p.Lys395Ile) c.1292A>T (p.Lys431Ile) c.1289A>T (p.Lys430Ile) c.1208A>T (p.Lys403Ile) c.1205A>T (p.Lys402Ile) | |
X | g.20172825T>C | CA412516420 | RPS6KA3 | c.1274A>G (p.Lys425Arg) c.1187A>G (p.Lys396Arg) c.1190A>G (p.Lys397Arg) c.892A>G (n.892A>G) c.*495A>G (n.*495A>G) n.40A>G c.1271A>G (p.Lys424Arg) c.1184A>G (p.Lys395Arg) c.1292A>G (p.Lys431Arg) c.1289A>G (p.Lys430Arg) c.1208A>G (p.Lys403Arg) c.1205A>G (p.Lys402Arg) | |
X | g.20172825T>G | CA412516417 | RPS6KA3 | c.1274A>C (p.Lys425Thr) c.1187A>C (p.Lys396Thr) c.1190A>C (p.Lys397Thr) c.892A>C (n.892A>C) c.*495A>C (n.*495A>C) n.40A>C c.1271A>C (p.Lys424Thr) c.1184A>C (p.Lys395Thr) c.1292A>C (p.Lys431Thr) c.1289A>C (p.Lys430Thr) c.1208A>C (p.Lys403Thr) c.1205A>C (p.Lys402Thr) | |
X | g.20172826T>A | CA412516440 | RPS6KA3 | c.1273A>T (p.Lys425Ter) c.1186A>T (p.Lys396Ter) c.1189A>T (p.Lys397Ter) c.891A>T (n.891A>T) c.*494A>T (n.*494A>T) n.39A>T c.1270A>T (p.Lys424Ter) c.1183A>T (p.Lys395Ter) c.1291A>T (p.Lys431Ter) c.1288A>T (p.Lys430Ter) c.1207A>T (p.Lys403Ter) c.1204A>T (p.Lys402Ter) | |
X | g.20172826T>C | CA412516439 | RPS6KA3 | c.1273A>G (p.Lys425Glu) c.1186A>G (p.Lys396Glu) c.1189A>G (p.Lys397Glu) c.891A>G (n.891A>G) c.*494A>G (n.*494A>G) n.39A>G c.1270A>G (p.Lys424Glu) c.1183A>G (p.Lys395Glu) c.1291A>G (p.Lys431Glu) c.1288A>G (p.Lys430Glu) c.1207A>G (p.Lys403Glu) c.1204A>G (p.Lys402Glu) | |
X | g.20172826T>G | CA412516441 | RPS6KA3 | c.1273A>C (p.Lys425Gln) c.1186A>C (p.Lys396Gln) c.1189A>C (p.Lys397Gln) c.891A>C (n.891A>C) c.*494A>C (n.*494A>C) n.39A>C c.1270A>C (p.Lys424Gln) c.1183A>C (p.Lys395Gln) c.1291A>C (p.Lys431Gln) c.1288A>C (p.Lys430Gln) c.1207A>C (p.Lys403Gln) c.1204A>C (p.Lys402Gln) | |
X | g.20172827T>A | CA515614090 | RPS6KA3 | c.1272A>T (p.Val424=) c.1185A>T (p.Val395=) c.1188A>T (p.Val396=) c.890A>T (n.890A>T) c.*493A>T (n.*493A>T) n.38A>T c.1269A>T (p.Val423=) c.1182A>T (p.Val394=) c.1290A>T (p.Val430=) c.1287A>T (p.Val429=) c.1206A>T (p.Val402=) c.1203A>T (p.Val401=) | |
X | g.20172827T>C | CA515614091 | RPS6KA3 | c.1272A>G (p.Val424=) c.1185A>G (p.Val395=) c.1188A>G (p.Val396=) c.890A>G (n.890A>G) c.*493A>G (n.*493A>G) n.38A>G c.1269A>G (p.Val423=) c.1182A>G (p.Val394=) c.1290A>G (p.Val430=) c.1287A>G (p.Val429=) c.1206A>G (p.Val402=) c.1203A>G (p.Val401=) | |
X | g.20172827T>G | CA515614092 | RPS6KA3 | c.1272A>C (p.Val424=) c.1185A>C (p.Val395=) c.1188A>C (p.Val396=) c.890A>C (n.890A>C) c.*493A>C (n.*493A>C) n.38A>C c.1269A>C (p.Val423=) c.1182A>C (p.Val394=) c.1290A>C (p.Val430=) c.1287A>C (p.Val429=) c.1206A>C (p.Val402=) c.1203A>C (p.Val401=) | |
X | g.20172828A>C | CA412516442 | RPS6KA3 | c.1271T>G (p.Val424Gly) c.1184T>G (p.Val395Gly) c.1187T>G (p.Val396Gly) c.889T>G (n.889T>G) c.*492T>G (n.*492T>G) n.37T>G c.1268T>G (p.Val423Gly) c.1181T>G (p.Val394Gly) c.1289T>G (p.Val430Gly) c.1286T>G (p.Val429Gly) c.1205T>G (p.Val402Gly) c.1202T>G (p.Val401Gly) | |
X | g.20172828A>G | CA412516443 | RPS6KA3 | c.1271T>C (p.Val424Ala) c.1184T>C (p.Val395Ala) c.1187T>C (p.Val396Ala) c.889T>C (n.889T>C) c.*492T>C (n.*492T>C) n.37T>C c.1268T>C (p.Val423Ala) c.1181T>C (p.Val394Ala) c.1289T>C (p.Val430Ala) c.1286T>C (p.Val429Ala) c.1205T>C (p.Val402Ala) c.1202T>C (p.Val401Ala) | |
X | g.20172828A>T | CA412516445 | RPS6KA3 | c.1271T>A (p.Val424Glu) c.1184T>A (p.Val395Glu) c.1187T>A (p.Val396Glu) c.889T>A (n.889T>A) c.*492T>A (n.*492T>A) n.37T>A c.1268T>A (p.Val423Glu) c.1181T>A (p.Val394Glu) c.1289T>A (p.Val430Glu) c.1286T>A (p.Val429Glu) c.1205T>A (p.Val402Glu) c.1202T>A (p.Val401Glu) | |
X | g.20172829C>A | CA412516447 | RPS6KA3 | c.1270G>T (p.Val424Leu) c.1183G>T (p.Val395Leu) c.1186G>T (p.Val396Leu) c.888G>T (n.888G>T) c.*491G>T (n.*491G>T) n.36G>T c.1267G>T (p.Val423Leu) c.1180G>T (p.Val394Leu) c.1288G>T (p.Val430Leu) c.1285G>T (p.Val429Leu) c.1204G>T (p.Val402Leu) c.1201G>T (p.Val401Leu) | |
X | g.20172829C>G | CA412516448 | RPS6KA3 | c.1270G>C (p.Val424Leu) c.1183G>C (p.Val395Leu) c.1186G>C (p.Val396Leu) c.888G>C (n.888G>C) c.*491G>C (n.*491G>C) n.36G>C c.1267G>C (p.Val423Leu) c.1180G>C (p.Val394Leu) c.1288G>C (p.Val430Leu) c.1285G>C (p.Val429Leu) c.1204G>C (p.Val402Leu) c.1201G>C (p.Val401Leu) | |
X | g.20172829C>T | CA412516449 | RPS6KA3 | c.1270G>A (p.Val424Ile) c.1183G>A (p.Val395Ile) c.1186G>A (p.Val396Ile) c.888G>A (n.888G>A) c.*491G>A (n.*491G>A) n.36G>A c.1267G>A (p.Val423Ile) c.1180G>A (p.Val394Ile) c.1288G>A (p.Val430Ile) c.1285G>A (p.Val429Ile) c.1204G>A (p.Val402Ile) c.1201G>A (p.Val401Ile) | |
X | g.20172830T>A | CA412516450 | RPS6KA3 | c.1269A>T (p.Glu423Asp) c.1182A>T (p.Glu394Asp) c.1185A>T (p.Glu395Asp) c.887A>T (n.887A>T) c.*490A>T (n.*490A>T) n.35A>T c.1266A>T (p.Glu422Asp) c.1179A>T (p.Glu393Asp) c.1287A>T (p.Glu429Asp) c.1284A>T (p.Glu428Asp) c.1203A>T (p.Glu401Asp) c.1200A>T (p.Glu400Asp) | ClinVar dbSNP gnomAD v4 |
X | g.20172830T>C | CA515614093 | RPS6KA3 | c.1269A>G (p.Glu423=) c.1182A>G (p.Glu394=) c.1185A>G (p.Glu395=) c.887A>G (n.887A>G) c.*490A>G (n.*490A>G) n.35A>G c.1266A>G (p.Glu422=) c.1179A>G (p.Glu393=) c.1287A>G (p.Glu429=) c.1284A>G (p.Glu428=) c.1203A>G (p.Glu401=) c.1200A>G (p.Glu400=) | |
X | g.20172830T>G | CA412516451 | RPS6KA3 | c.1269A>C (p.Glu423Asp) c.1182A>C (p.Glu394Asp) c.1185A>C (p.Glu395Asp) c.887A>C (n.887A>C) c.*490A>C (n.*490A>C) n.35A>C c.1266A>C (p.Glu422Asp) c.1179A>C (p.Glu393Asp) c.1287A>C (p.Glu429Asp) c.1284A>C (p.Glu428Asp) c.1203A>C (p.Glu401Asp) c.1200A>C (p.Glu400Asp) | |
X | g.20172830T= | CA2418508464 | RPS6KA3 | c.1269A= (p.Glu423=) c.1182A= (p.Glu394=) c.1185A= (p.Glu395=) c.887A= (n.887A=) c.*490A= (n.*490A=) n.35A= c.1266A= (p.Glu422=) c.1179A= (p.Glu393=) c.1287A= (p.Glu429=) c.1284A= (p.Glu428=) c.1203A= (p.Glu401=) c.1200A= (p.Glu400=) | |
X | g.20172831T>A | CA412516453 | RPS6KA3 | c.1268A>T (p.Glu423Val) c.1181A>T (p.Glu394Val) c.1184A>T (p.Glu395Val) c.886A>T (n.886A>T) c.*489A>T (n.*489A>T) n.34A>T c.1265A>T (p.Glu422Val) c.1178A>T (p.Glu393Val) c.1286A>T (p.Glu429Val) c.1283A>T (p.Glu428Val) c.1202A>T (p.Glu401Val) c.1199A>T (p.Glu400Val) | |
X | g.20172831T>C | CA412516456 | RPS6KA3 | c.1268A>G (p.Glu423Gly) c.1181A>G (p.Glu394Gly) c.1184A>G (p.Glu395Gly) c.886A>G (n.886A>G) c.*489A>G (n.*489A>G) n.34A>G c.1265A>G (p.Glu422Gly) c.1178A>G (p.Glu393Gly) c.1286A>G (p.Glu429Gly) c.1283A>G (p.Glu428Gly) c.1202A>G (p.Glu401Gly) c.1199A>G (p.Glu400Gly) | gnomAD v4 |
X | g.20172831T>G | CA412516458 | RPS6KA3 | c.1268A>C (p.Glu423Ala) c.1181A>C (p.Glu394Ala) c.1184A>C (p.Glu395Ala) c.886A>C (n.886A>C) c.*489A>C (n.*489A>C) n.34A>C c.1265A>C (p.Glu422Ala) c.1178A>C (p.Glu393Ala) c.1286A>C (p.Glu429Ala) c.1283A>C (p.Glu428Ala) c.1202A>C (p.Glu401Ala) c.1199A>C (p.Glu400Ala) | |
X | g.20172832C>A | CA412516462 | RPS6KA3 | c.1267G>T (p.Glu423Ter) c.1180G>T (p.Glu394Ter) c.1183G>T (p.Glu395Ter) c.885G>T (n.885G>T) c.*488G>T (n.*488G>T) n.33G>T c.1264G>T (p.Glu422Ter) c.1177G>T (p.Glu393Ter) c.1285G>T (p.Glu429Ter) c.1282G>T (p.Glu428Ter) c.1201G>T (p.Glu401Ter) c.1198G>T (p.Glu400Ter) | |
X | g.20172832C>G | CA412516466 | RPS6KA3 | c.1267G>C (p.Glu423Gln) c.1180G>C (p.Glu394Gln) c.1183G>C (p.Glu395Gln) c.885G>C (n.885G>C) c.*488G>C (n.*488G>C) n.33G>C c.1264G>C (p.Glu422Gln) c.1177G>C (p.Glu393Gln) c.1285G>C (p.Glu429Gln) c.1282G>C (p.Glu428Gln) c.1201G>C (p.Glu401Gln) c.1198G>C (p.Glu400Gln) | |
X | g.20172832C>T | CA412516467 | RPS6KA3 | c.1267G>A (p.Glu423Lys) c.1180G>A (p.Glu394Lys) c.1183G>A (p.Glu395Lys) c.885G>A (n.885G>A) c.*488G>A (n.*488G>A) n.33G>A c.1264G>A (p.Glu422Lys) c.1177G>A (p.Glu393Lys) c.1285G>A (p.Glu429Lys) c.1282G>A (p.Glu428Lys) c.1201G>A (p.Glu401Lys) c.1198G>A (p.Glu400Lys) | |
X | g.20172833A>C | CA412516468 | RPS6KA3 | c.1266T>G (p.Tyr422Ter) c.1179T>G (p.Tyr393Ter) c.1182T>G (p.Tyr394Ter) c.884T>G (n.884T>G) c.*487T>G (n.*487T>G) n.32T>G c.1263T>G (p.Tyr421Ter) c.1176T>G (p.Tyr392Ter) c.1284T>G (p.Tyr428Ter) c.1281T>G (p.Tyr427Ter) c.1200T>G (p.Tyr400Ter) c.1197T>G (p.Tyr399Ter) | |
X | g.20172833A>G | CA515614094 | RPS6KA3 | c.1266T>C (p.Tyr422=) c.1179T>C (p.Tyr393=) c.1182T>C (p.Tyr394=) c.884T>C (n.884T>C) c.*487T>C (n.*487T>C) n.32T>C c.1263T>C (p.Tyr421=) c.1176T>C (p.Tyr392=) c.1284T>C (p.Tyr428=) c.1281T>C (p.Tyr427=) c.1200T>C (p.Tyr400=) c.1197T>C (p.Tyr399=) | |
X | g.20172833A>T | CA412516469 | RPS6KA3 | c.1266T>A (p.Tyr422Ter) c.1179T>A (p.Tyr393Ter) c.1182T>A (p.Tyr394Ter) c.884T>A (n.884T>A) c.*487T>A (n.*487T>A) n.32T>A c.1263T>A (p.Tyr421Ter) c.1176T>A (p.Tyr392Ter) c.1284T>A (p.Tyr428Ter) c.1281T>A (p.Tyr427Ter) c.1200T>A (p.Tyr400Ter) c.1197T>A (p.Tyr399Ter) | |
X | g.20172834T>A | CA412516470 | RPS6KA3 | c.1265A>T (p.Tyr422Phe) c.1178A>T (p.Tyr393Phe) c.1181A>T (p.Tyr394Phe) c.883A>T (n.883A>T) c.*486A>T (n.*486A>T) n.31A>T c.1262A>T (p.Tyr421Phe) c.1175A>T (p.Tyr392Phe) c.1283A>T (p.Tyr428Phe) c.1280A>T (p.Tyr427Phe) c.1199A>T (p.Tyr400Phe) c.1196A>T (p.Tyr399Phe) | |
X | g.20172834T>C | CA412516471 | RPS6KA3 | c.1265A>G (p.Tyr422Cys) c.1178A>G (p.Tyr393Cys) c.1181A>G (p.Tyr394Cys) c.883A>G (n.883A>G) c.*486A>G (n.*486A>G) n.31A>G c.1262A>G (p.Tyr421Cys) c.1175A>G (p.Tyr392Cys) c.1283A>G (p.Tyr428Cys) c.1280A>G (p.Tyr427Cys) c.1199A>G (p.Tyr400Cys) c.1196A>G (p.Tyr399Cys) | COSMIC |
X | g.20172834T>G | CA412516473 | RPS6KA3 | c.1265A>C (p.Tyr422Ser) c.1178A>C (p.Tyr393Ser) c.1181A>C (p.Tyr394Ser) c.883A>C (n.883A>C) c.*486A>C (n.*486A>C) n.31A>C c.1262A>C (p.Tyr421Ser) c.1175A>C (p.Tyr392Ser) c.1283A>C (p.Tyr428Ser) c.1280A>C (p.Tyr427Ser) c.1199A>C (p.Tyr400Ser) c.1196A>C (p.Tyr399Ser) | |
X | g.20172835A>C | CA412516475 | RPS6KA3 | c.1264T>G (p.Tyr422Asp) c.1177T>G (p.Tyr393Asp) c.1180T>G (p.Tyr394Asp) c.882T>G (n.882T>G) c.*485T>G (n.*485T>G) n.30T>G c.1261T>G (p.Tyr421Asp) c.1174T>G (p.Tyr392Asp) c.1282T>G (p.Tyr428Asp) c.1279T>G (p.Tyr427Asp) c.1198T>G (p.Tyr400Asp) c.1195T>G (p.Tyr399Asp) | |
X | g.20172835A>G | CA412516476 | RPS6KA3 | c.1264T>C (p.Tyr422His) c.1177T>C (p.Tyr393His) c.1180T>C (p.Tyr394His) c.882T>C (n.882T>C) c.*485T>C (n.*485T>C) n.30T>C c.1261T>C (p.Tyr421His) c.1174T>C (p.Tyr392His) c.1282T>C (p.Tyr428His) c.1279T>C (p.Tyr427His) c.1198T>C (p.Tyr400His) c.1195T>C (p.Tyr399His) | |
X | g.20172835A>T | CA412516479 | RPS6KA3 | c.1264T>A (p.Tyr422Asn) c.1177T>A (p.Tyr393Asn) c.1180T>A (p.Tyr394Asn) c.882T>A (n.882T>A) c.*485T>A (n.*485T>A) n.30T>A c.1261T>A (p.Tyr421Asn) c.1174T>A (p.Tyr392Asn) c.1282T>A (p.Tyr428Asn) c.1279T>A (p.Tyr427Asn) c.1198T>A (p.Tyr400Asn) c.1195T>A (p.Tyr399Asn) | |
X | g.20172836T>A | CA515614097 | RPS6KA3 | c.1263A>T (p.Gly421=) c.1176A>T (p.Gly392=) c.1179A>T (p.Gly393=) c.881A>T (n.881A>T) c.*484A>T (n.*484A>T) n.29A>T c.1260A>T (p.Gly420=) c.1173A>T (p.Gly391=) c.1281A>T (p.Gly427=) c.1278A>T (p.Gly426=) c.1197A>T (p.Gly399=) c.1194A>T (p.Gly398=) | |
X | g.20172836T>C | CA515614096 | RPS6KA3 | c.1263A>G (p.Gly421=) c.1176A>G (p.Gly392=) c.1179A>G (p.Gly393=) c.881A>G (n.881A>G) c.*484A>G (n.*484A>G) n.29A>G c.1260A>G (p.Gly420=) c.1173A>G (p.Gly391=) c.1281A>G (p.Gly427=) c.1278A>G (p.Gly426=) c.1197A>G (p.Gly399=) c.1194A>G (p.Gly398=) | |
X | g.20172836T>G | CA515614095 | RPS6KA3 | c.1263A>C (p.Gly421=) c.1176A>C (p.Gly392=) c.1179A>C (p.Gly393=) c.881A>C (n.881A>C) c.*484A>C (n.*484A>C) n.29A>C c.1260A>C (p.Gly420=) c.1173A>C (p.Gly391=) c.1281A>C (p.Gly427=) c.1278A>C (p.Gly426=) c.1197A>C (p.Gly399=) c.1194A>C (p.Gly398=) | |
X | g.20172837C>A | CA412516489 | RPS6KA3 | c.1262G>T (p.Gly421Val) c.1175G>T (p.Gly392Val) c.1178G>T (p.Gly393Val) c.880G>T (n.880G>T) c.*483G>T (n.*483G>T) n.28G>T c.1259G>T (p.Gly420Val) c.1172G>T (p.Gly391Val) c.1280G>T (p.Gly427Val) c.1277G>T (p.Gly426Val) c.1196G>T (p.Gly399Val) c.1193G>T (p.Gly398Val) | |
X | g.20172837C>G | CA412516493 | RPS6KA3 | c.1262G>C (p.Gly421Ala) c.1175G>C (p.Gly392Ala) c.1178G>C (p.Gly393Ala) c.880G>C (n.880G>C) c.*483G>C (n.*483G>C) n.28G>C c.1259G>C (p.Gly420Ala) c.1172G>C (p.Gly391Ala) c.1280G>C (p.Gly427Ala) c.1277G>C (p.Gly426Ala) c.1196G>C (p.Gly399Ala) c.1193G>C (p.Gly398Ala) | |
X | g.20172837C>T | CA412516496 | RPS6KA3 | c.1262G>A (p.Gly421Glu) c.1175G>A (p.Gly392Glu) c.1178G>A (p.Gly393Glu) c.880G>A (n.880G>A) c.*483G>A (n.*483G>A) n.28G>A c.1259G>A (p.Gly420Glu) c.1172G>A (p.Gly391Glu) c.1280G>A (p.Gly427Glu) c.1277G>A (p.Gly426Glu) c.1196G>A (p.Gly399Glu) c.1193G>A (p.Gly398Glu) | |
X | g.20172838C>A | CA412516499 | RPS6KA3 | c.1261G>T (p.Gly421Ter) c.1174G>T (p.Gly392Ter) c.1177G>T (p.Gly393Ter) c.879G>T (n.879G>T) c.*482G>T (n.*482G>T) n.27G>T c.1258G>T (p.Gly420Ter) c.1171G>T (p.Gly391Ter) c.1279G>T (p.Gly427Ter) c.1276G>T (p.Gly426Ter) c.1195G>T (p.Gly399Ter) c.1192G>T (p.Gly398Ter) | |
X | g.20172838C= | CA2418508465 | RPS6KA3 | c.1261G= (p.Gly421=) c.1174G= (p.Gly392=) c.1177G= (p.Gly393=) c.879G= (n.879G=) c.*482G= (n.*482G=) n.27G= c.1258G= (p.Gly420=) c.1171G= (p.Gly391=) c.1279G= (p.Gly427=) c.1276G= (p.Gly426=) c.1195G= (p.Gly399=) c.1192G= (p.Gly398=) | |
X | g.20172838C>G | CA412516502 | RPS6KA3 | c.1261G>C (p.Gly421Arg) c.1174G>C (p.Gly392Arg) c.1177G>C (p.Gly393Arg) c.879G>C (n.879G>C) c.*482G>C (n.*482G>C) n.27G>C c.1258G>C (p.Gly420Arg) c.1171G>C (p.Gly391Arg) c.1279G>C (p.Gly427Arg) c.1276G>C (p.Gly426Arg) c.1195G>C (p.Gly399Arg) c.1192G>C (p.Gly398Arg) | |
X | g.20172838C>T | CA412516503 | RPS6KA3 | c.1261G>A (p.Gly421Arg) c.1174G>A (p.Gly392Arg) c.1177G>A (p.Gly393Arg) c.879G>A (n.879G>A) c.*482G>A (n.*482G>A) n.27G>A c.1258G>A (p.Gly420Arg) c.1171G>A (p.Gly391Arg) c.1279G>A (p.Gly427Arg) c.1276G>A (p.Gly426Arg) c.1195G>A (p.Gly399Arg) c.1192G>A (p.Gly398Arg) | dbSNP gnomAD v2 |
X | g.20172839A>C | CA412516504 | RPS6KA3 | c.1260T>G (p.Asp420Glu) c.1173T>G (p.Asp391Glu) c.1176T>G (p.Asp392Glu) c.878T>G (n.878T>G) c.*481T>G (n.*481T>G) n.26T>G c.1257T>G (p.Asp419Glu) c.1170T>G (p.Asp390Glu) c.1278T>G (p.Asp426Glu) c.1275T>G (p.Asp425Glu) c.1194T>G (p.Asp398Glu) c.1191T>G (p.Asp397Glu) | |
X | g.20172839A>G | CA515614098 | RPS6KA3 | c.1260T>C (p.Asp420=) c.1173T>C (p.Asp391=) c.1176T>C (p.Asp392=) c.878T>C (n.878T>C) c.*481T>C (n.*481T>C) n.26T>C c.1257T>C (p.Asp419=) c.1170T>C (p.Asp390=) c.1278T>C (p.Asp426=) c.1275T>C (p.Asp425=) c.1194T>C (p.Asp398=) c.1191T>C (p.Asp397=) | |
X | g.20172839A>T | CA412516505 | RPS6KA3 | c.1260T>A (p.Asp420Glu) c.1173T>A (p.Asp391Glu) c.1176T>A (p.Asp392Glu) c.878T>A (n.878T>A) c.*481T>A (n.*481T>A) n.26T>A c.1257T>A (p.Asp419Glu) c.1170T>A (p.Asp390Glu) c.1278T>A (p.Asp426Glu) c.1275T>A (p.Asp425Glu) c.1194T>A (p.Asp398Glu) c.1191T>A (p.Asp397Glu) | |
X | g.20172840T>A | CA412516506 | RPS6KA3 | c.1259A>T (p.Asp420Val) c.1172A>T (p.Asp391Val) c.1175A>T (p.Asp392Val) c.877A>T (n.877A>T) c.*480A>T (n.*480A>T) n.25A>T c.1256A>T (p.Asp419Val) c.1169A>T (p.Asp390Val) c.1277A>T (p.Asp426Val) c.1274A>T (p.Asp425Val) c.1193A>T (p.Asp398Val) c.1190A>T (p.Asp397Val) | |
X | g.20172840T>C | CA412516507 | RPS6KA3 | c.1259A>G (p.Asp420Gly) c.1172A>G (p.Asp391Gly) c.1175A>G (p.Asp392Gly) c.877A>G (n.877A>G) c.*480A>G (n.*480A>G) n.25A>G c.1256A>G (p.Asp419Gly) c.1169A>G (p.Asp390Gly) c.1277A>G (p.Asp426Gly) c.1274A>G (p.Asp425Gly) c.1193A>G (p.Asp398Gly) c.1190A>G (p.Asp397Gly) | |
X | g.20172840T>G | CA412516510 | RPS6KA3 | c.1259A>C (p.Asp420Ala) c.1172A>C (p.Asp391Ala) c.1175A>C (p.Asp392Ala) c.877A>C (n.877A>C) c.*480A>C (n.*480A>C) n.25A>C c.1256A>C (p.Asp419Ala) c.1169A>C (p.Asp390Ala) c.1277A>C (p.Asp426Ala) c.1274A>C (p.Asp425Ala) c.1193A>C (p.Asp398Ala) c.1190A>C (p.Asp397Ala) | |
X | g.20172841C>A | CA412516514 | RPS6KA3 | c.1258G>T (p.Asp420Tyr) c.1171G>T (p.Asp391Tyr) c.1174G>T (p.Asp392Tyr) c.876G>T (n.876G>T) c.*479G>T (n.*479G>T) n.24G>T c.1255G>T (p.Asp419Tyr) c.1168G>T (p.Asp390Tyr) c.1276G>T (p.Asp426Tyr) c.1273G>T (p.Asp425Tyr) c.1192G>T (p.Asp398Tyr) c.1189G>T (p.Asp397Tyr) | |
X | g.20172841C>G | CA412516516 | RPS6KA3 | c.1258G>C (p.Asp420His) c.1171G>C (p.Asp391His) c.1174G>C (p.Asp392His) c.876G>C (n.876G>C) c.*479G>C (n.*479G>C) n.24G>C c.1255G>C (p.Asp419His) c.1168G>C (p.Asp390His) c.1276G>C (p.Asp426His) c.1273G>C (p.Asp425His) c.1192G>C (p.Asp398His) c.1189G>C (p.Asp397His) | |
X | g.20172841C>T | CA412516518 | RPS6KA3 | c.1258G>A (p.Asp420Asn) c.1171G>A (p.Asp391Asn) c.1174G>A (p.Asp392Asn) c.876G>A (n.876G>A) c.*479G>A (n.*479G>A) n.24G>A c.1255G>A (p.Asp419Asn) c.1168G>A (p.Asp390Asn) c.1276G>A (p.Asp426Asn) c.1273G>A (p.Asp425Asn) c.1192G>A (p.Asp398Asn) c.1189G>A (p.Asp397Asn) | |
X | g.20172842A>C | CA515614099 | RPS6KA3 | c.1257T>G (p.Thr419=) c.1170T>G (p.Thr390=) c.1173T>G (p.Thr391=) c.875T>G (n.875T>G) c.*478T>G (n.*478T>G) n.23T>G c.1254T>G (p.Thr418=) c.1167T>G (p.Thr389=) c.1275T>G (p.Thr425=) c.1272T>G (p.Thr424=) c.1191T>G (p.Thr397=) c.1188T>G (p.Thr396=) | |
X | g.20172842A>G | CA515614100 | RPS6KA3 | c.1257T>C (p.Thr419=) c.1170T>C (p.Thr390=) c.1173T>C (p.Thr391=) c.875T>C (n.875T>C) c.*478T>C (n.*478T>C) n.23T>C c.1254T>C (p.Thr418=) c.1167T>C (p.Thr389=) c.1275T>C (p.Thr425=) c.1272T>C (p.Thr424=) c.1191T>C (p.Thr397=) c.1188T>C (p.Thr396=) | |
X | g.20172842A>T | CA515614101 | RPS6KA3 | c.1257T>A (p.Thr419=) c.1170T>A (p.Thr390=) c.1173T>A (p.Thr391=) c.875T>A (n.875T>A) c.*478T>A (n.*478T>A) n.23T>A c.1254T>A (p.Thr418=) c.1167T>A (p.Thr389=) c.1275T>A (p.Thr425=) c.1272T>A (p.Thr424=) c.1191T>A (p.Thr397=) c.1188T>A (p.Thr396=) | |
X | g.20172843G>A | CA412516530 | RPS6KA3 | c.1256C>T (p.Thr419Ile) c.1169C>T (p.Thr390Ile) c.1172C>T (p.Thr391Ile) c.874C>T (n.874C>T) c.*477C>T (n.*477C>T) n.22C>T c.1253C>T (p.Thr418Ile) c.1166C>T (p.Thr389Ile) c.1274C>T (p.Thr425Ile) c.1271C>T (p.Thr424Ile) c.1190C>T (p.Thr397Ile) c.1187C>T (p.Thr396Ile) | |
X | g.20172843G>C | CA412516521 | RPS6KA3 | c.1256C>G (p.Thr419Ser) c.1169C>G (p.Thr390Ser) c.1172C>G (p.Thr391Ser) c.874C>G (n.874C>G) c.*477C>G (n.*477C>G) n.22C>G c.1253C>G (p.Thr418Ser) c.1166C>G (p.Thr389Ser) c.1274C>G (p.Thr425Ser) c.1271C>G (p.Thr424Ser) c.1190C>G (p.Thr397Ser) c.1187C>G (p.Thr396Ser) | |
X | g.20172843G>T | CA412516528 | RPS6KA3 | c.1256C>A (p.Thr419Asn) c.1169C>A (p.Thr390Asn) c.1172C>A (p.Thr391Asn) c.874C>A (n.874C>A) c.*477C>A (n.*477C>A) n.22C>A c.1253C>A (p.Thr418Asn) c.1166C>A (p.Thr389Asn) c.1274C>A (p.Thr425Asn) c.1271C>A (p.Thr424Asn) c.1190C>A (p.Thr397Asn) c.1187C>A (p.Thr396Asn) | |
X | g.20172844T>A | CA412516532 | RPS6KA3 | c.1255A>T (p.Thr419Ser) c.1168A>T (p.Thr390Ser) c.1171A>T (p.Thr391Ser) c.873A>T (n.873A>T) c.*476A>T (n.*476A>T) n.21A>T c.1252A>T (p.Thr418Ser) c.1165A>T (p.Thr389Ser) c.1273A>T (p.Thr425Ser) c.1270A>T (p.Thr424Ser) c.1189A>T (p.Thr397Ser) c.1186A>T (p.Thr396Ser) | |
X | g.20172844T>C | CA412516534 | RPS6KA3 | c.1255A>G (p.Thr419Ala) c.1168A>G (p.Thr390Ala) c.1171A>G (p.Thr391Ala) c.873A>G (n.873A>G) c.*476A>G (n.*476A>G) n.21A>G c.1252A>G (p.Thr418Ala) c.1165A>G (p.Thr389Ala) c.1273A>G (p.Thr425Ala) c.1270A>G (p.Thr424Ala) c.1189A>G (p.Thr397Ala) c.1186A>G (p.Thr396Ala) | gnomAD v4 |
X | g.20172844T>G | CA412516536 | RPS6KA3 | c.1255A>C (p.Thr419Pro) c.1168A>C (p.Thr390Pro) c.1171A>C (p.Thr391Pro) c.873A>C (n.873A>C) c.*476A>C (n.*476A>C) n.21A>C c.1252A>C (p.Thr418Pro) c.1165A>C (p.Thr389Pro) c.1273A>C (p.Thr425Pro) c.1270A>C (p.Thr424Pro) c.1189A>C (p.Thr397Pro) c.1186A>C (p.Thr396Pro) | |
X | g.20172845A>C | CA412516539 | RPS6KA3 | c.1254T>G (p.Phe418Leu) c.1167T>G (p.Phe389Leu) c.1170T>G (p.Phe390Leu) c.872T>G (n.872T>G) c.*475T>G (n.*475T>G) n.20T>G c.1251T>G (p.Phe417Leu) c.1164T>G (p.Phe388Leu) c.1272T>G (p.Phe424Leu) c.1269T>G (p.Phe423Leu) c.1188T>G (p.Phe396Leu) c.1185T>G (p.Phe395Leu) | |
X | g.20172845A>G | CA515614102 | RPS6KA3 | c.1254T>C (p.Phe418=) c.1167T>C (p.Phe389=) c.1170T>C (p.Phe390=) c.872T>C (n.872T>C) c.*475T>C (n.*475T>C) n.20T>C c.1251T>C (p.Phe417=) c.1164T>C (p.Phe388=) c.1272T>C (p.Phe424=) c.1269T>C (p.Phe423=) c.1188T>C (p.Phe396=) c.1185T>C (p.Phe395=) | |
X | g.20172845A>T | CA412516540 | RPS6KA3 | c.1254T>A (p.Phe418Leu) c.1167T>A (p.Phe389Leu) c.1170T>A (p.Phe390Leu) c.872T>A (n.872T>A) c.*475T>A (n.*475T>A) n.20T>A c.1251T>A (p.Phe417Leu) c.1164T>A (p.Phe388Leu) c.1272T>A (p.Phe424Leu) c.1269T>A (p.Phe423Leu) c.1188T>A (p.Phe396Leu) c.1185T>A (p.Phe395Leu) | |
X | g.20172846A>C | CA412516543 | RPS6KA3 | c.1253T>G (p.Phe418Cys) c.1166T>G (p.Phe389Cys) c.1169T>G (p.Phe390Cys) c.871T>G (n.871T>G) c.*474T>G (n.*474T>G) n.19T>G c.1250T>G (p.Phe417Cys) c.1163T>G (p.Phe388Cys) c.1271T>G (p.Phe424Cys) c.1268T>G (p.Phe423Cys) c.1187T>G (p.Phe396Cys) c.1184T>G (p.Phe395Cys) | |
X | g.20172846A>G | CA412516546 | RPS6KA3 | c.1253T>C (p.Phe418Ser) c.1166T>C (p.Phe389Ser) c.1169T>C (p.Phe390Ser) c.871T>C (n.871T>C) c.*474T>C (n.*474T>C) n.19T>C c.1250T>C (p.Phe417Ser) c.1163T>C (p.Phe388Ser) c.1271T>C (p.Phe424Ser) c.1268T>C (p.Phe423Ser) c.1187T>C (p.Phe396Ser) c.1184T>C (p.Phe395Ser) | |
X | g.20172846A>T | CA412516545 | RPS6KA3 | c.1253T>A (p.Phe418Tyr) c.1166T>A (p.Phe389Tyr) c.1169T>A (p.Phe390Tyr) c.871T>A (n.871T>A) c.*474T>A (n.*474T>A) n.19T>A c.1250T>A (p.Phe417Tyr) c.1163T>A (p.Phe388Tyr) c.1271T>A (p.Phe424Tyr) c.1268T>A (p.Phe423Tyr) c.1187T>A (p.Phe396Tyr) c.1184T>A (p.Phe395Tyr) | |
X | g.20172847A>C | CA412516549 | RPS6KA3 | c.1252T>G (p.Phe418Val) c.1165T>G (p.Phe389Val) c.1168T>G (p.Phe390Val) c.870T>G (n.870T>G) c.*473T>G (n.*473T>G) n.18T>G c.1249T>G (p.Phe417Val) c.1162T>G (p.Phe388Val) c.1270T>G (p.Phe424Val) c.1267T>G (p.Phe423Val) c.1186T>G (p.Phe396Val) c.1183T>G (p.Phe395Val) | |
X | g.20172847A>G | CA412516551 | RPS6KA3 | c.1252T>C (p.Phe418Leu) c.1165T>C (p.Phe389Leu) c.1168T>C (p.Phe390Leu) c.870T>C (n.870T>C) c.*473T>C (n.*473T>C) n.18T>C c.1249T>C (p.Phe417Leu) c.1162T>C (p.Phe388Leu) c.1270T>C (p.Phe424Leu) c.1267T>C (p.Phe423Leu) c.1186T>C (p.Phe396Leu) c.1183T>C (p.Phe395Leu) | |
X | g.20172847A>T | CA412516553 | RPS6KA3 | c.1252T>A (p.Phe418Ile) c.1165T>A (p.Phe389Ile) c.1168T>A (p.Phe390Ile) c.870T>A (n.870T>A) c.*473T>A (n.*473T>A) n.18T>A c.1249T>A (p.Phe417Ile) c.1162T>A (p.Phe388Ile) c.1270T>A (p.Phe424Ile) c.1267T>A (p.Phe423Ile) c.1186T>A (p.Phe396Ile) c.1183T>A (p.Phe395Ile) | |
X | g.20172848C>A | CA412516555 | RPS6KA3 | c.1251G>T (p.Gln417His) c.1164G>T (p.Gln388His) c.1167G>T (p.Gln389His) c.869G>T (n.869G>T) c.*472G>T (n.*472G>T) n.17G>T c.1248G>T (p.Gln416His) c.1161G>T (p.Gln387His) c.1269G>T (p.Gln423His) c.1266G>T (p.Gln422His) c.1185G>T (p.Gln395His) c.1182G>T (p.Gln394His) | |
X | g.20172848C>G | CA412516556 | RPS6KA3 | c.1251G>C (p.Gln417His) c.1164G>C (p.Gln388His) c.1167G>C (p.Gln389His) c.869G>C (n.869G>C) c.*472G>C (n.*472G>C) n.17G>C c.1248G>C (p.Gln416His) c.1161G>C (p.Gln387His) c.1269G>C (p.Gln423His) c.1266G>C (p.Gln422His) c.1185G>C (p.Gln395His) c.1182G>C (p.Gln394His) | |
X | g.20172848C>T | CA515614103 | RPS6KA3 | c.1251G>A (p.Gln417=) c.1164G>A (p.Gln388=) c.1167G>A (p.Gln389=) c.869G>A (n.869G>A) c.*472G>A (n.*472G>A) n.17G>A c.1248G>A (p.Gln416=) c.1161G>A (p.Gln387=) c.1269G>A (p.Gln423=) c.1266G>A (p.Gln422=) c.1185G>A (p.Gln395=) c.1182G>A (p.Gln394=) | gnomAD v4 |
X | g.20172849T>A | CA412516558 | RPS6KA3 | c.1250A>T (p.Gln417Leu) c.1163A>T (p.Gln388Leu) c.1166A>T (p.Gln389Leu) c.868A>T (n.868A>T) c.*471A>T (n.*471A>T) n.16A>T c.1247A>T (p.Gln416Leu) c.1160A>T (p.Gln387Leu) c.1268A>T (p.Gln423Leu) c.1265A>T (p.Gln422Leu) c.1184A>T (p.Gln395Leu) c.1181A>T (p.Gln394Leu) | |
X | g.20172849T>C | CA412516559 | RPS6KA3 | c.1250A>G (p.Gln417Arg) c.1163A>G (p.Gln388Arg) c.1166A>G (p.Gln389Arg) c.868A>G (n.868A>G) c.*471A>G (n.*471A>G) n.16A>G c.1247A>G (p.Gln416Arg) c.1160A>G (p.Gln387Arg) c.1268A>G (p.Gln423Arg) c.1265A>G (p.Gln422Arg) c.1184A>G (p.Gln395Arg) c.1181A>G (p.Gln394Arg) | |
X | g.20172849T>G | CA412516560 | RPS6KA3 | c.1250A>C (p.Gln417Pro) c.1163A>C (p.Gln388Pro) c.1166A>C (p.Gln389Pro) c.868A>C (n.868A>C) c.*471A>C (n.*471A>C) n.16A>C c.1247A>C (p.Gln416Pro) c.1160A>C (p.Gln387Pro) c.1268A>C (p.Gln423Pro) c.1265A>C (p.Gln422Pro) c.1184A>C (p.Gln395Pro) c.1181A>C (p.Gln394Pro) | |
X | g.20172850G>A | CA412516562 | RPS6KA3 | c.1249C>T (p.Gln417Ter) c.1162C>T (p.Gln388Ter) c.1165C>T (p.Gln389Ter) c.867C>T (n.867C>T) c.*470C>T (n.*470C>T) n.15C>T c.1246C>T (p.Gln416Ter) c.1159C>T (p.Gln387Ter) c.1267C>T (p.Gln423Ter) c.1264C>T (p.Gln422Ter) c.1183C>T (p.Gln395Ter) c.1180C>T (p.Gln394Ter) | |
X | g.20172850G>C | CA412516564 | RPS6KA3 | c.1249C>G (p.Gln417Glu) c.1162C>G (p.Gln388Glu) c.1165C>G (p.Gln389Glu) c.867C>G (n.867C>G) c.*470C>G (n.*470C>G) n.15C>G c.1246C>G (p.Gln416Glu) c.1159C>G (p.Gln387Glu) c.1267C>G (p.Gln423Glu) c.1264C>G (p.Gln422Glu) c.1183C>G (p.Gln395Glu) c.1180C>G (p.Gln394Glu) | |
X | g.20172850G>T | CA412516566 | RPS6KA3 | c.1249C>A (p.Gln417Lys) c.1162C>A (p.Gln388Lys) c.1165C>A (p.Gln389Lys) c.867C>A (n.867C>A) c.*470C>A (n.*470C>A) n.15C>A c.1246C>A (p.Gln416Lys) c.1159C>A (p.Gln387Lys) c.1267C>A (p.Gln423Lys) c.1264C>A (p.Gln422Lys) c.1183C>A (p.Gln395Lys) c.1180C>A (p.Gln394Lys) | |
X | g.20172851A= | CA2418508466 | RPS6KA3 | c.1248T= (p.Ile416=) c.1161T= (p.Ile387=) c.1164T= (p.Ile388=) c.866T= (n.866T=) c.*469T= (n.*469T=) n.14T= c.1245T= (p.Ile415=) c.1158T= (p.Ile386=) c.1266T= (p.Ile422=) c.1263T= (p.Ile421=) c.1182T= (p.Ile394=) c.1179T= (p.Ile393=) | |
X | g.20172851A>C | CA412516568 | RPS6KA3 | c.1248T>G (p.Ile416Met) c.1161T>G (p.Ile387Met) c.1164T>G (p.Ile388Met) c.866T>G (n.866T>G) c.*469T>G (n.*469T>G) n.14T>G c.1245T>G (p.Ile415Met) c.1158T>G (p.Ile386Met) c.1266T>G (p.Ile422Met) c.1263T>G (p.Ile421Met) c.1182T>G (p.Ile394Met) c.1179T>G (p.Ile393Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.20172851A>G | CA515614104 | RPS6KA3 | c.1248T>C (p.Ile416=) c.1161T>C (p.Ile387=) c.1164T>C (p.Ile388=) c.866T>C (n.866T>C) c.*469T>C (n.*469T>C) n.14T>C c.1245T>C (p.Ile415=) c.1158T>C (p.Ile386=) c.1266T>C (p.Ile422=) c.1263T>C (p.Ile421=) c.1182T>C (p.Ile394=) c.1179T>C (p.Ile393=) | |
X | g.20172851A>T | CA515614105 | RPS6KA3 | c.1248T>A (p.Ile416=) c.1161T>A (p.Ile387=) c.1164T>A (p.Ile388=) c.866T>A (n.866T>A) c.*469T>A (n.*469T>A) n.14T>A c.1245T>A (p.Ile415=) c.1158T>A (p.Ile386=) c.1266T>A (p.Ile422=) c.1263T>A (p.Ile421=) c.1182T>A (p.Ile394=) c.1179T>A (p.Ile393=) | |
X | g.20172852A>C | CA412516572 | RPS6KA3 | c.1247T>G (p.Ile416Ser) c.1160T>G (p.Ile387Ser) c.1163T>G (p.Ile388Ser) c.865T>G (n.865T>G) c.*468T>G (n.*468T>G) n.13T>G c.1244T>G (p.Ile415Ser) c.1157T>G (p.Ile386Ser) c.1265T>G (p.Ile422Ser) c.1262T>G (p.Ile421Ser) c.1181T>G (p.Ile394Ser) c.1178T>G (p.Ile393Ser) | |
X | g.20172852A>G | CA412516576 | RPS6KA3 | c.1247T>C (p.Ile416Thr) c.1160T>C (p.Ile387Thr) c.1163T>C (p.Ile388Thr) c.865T>C (n.865T>C) c.*468T>C (n.*468T>C) n.13T>C c.1244T>C (p.Ile415Thr) c.1157T>C (p.Ile386Thr) c.1265T>C (p.Ile422Thr) c.1262T>C (p.Ile421Thr) c.1181T>C (p.Ile394Thr) c.1178T>C (p.Ile393Thr) | |
X | g.20172852A>T | CA412516570 | RPS6KA3 | c.1247T>A (p.Ile416Asn) c.1160T>A (p.Ile387Asn) c.1163T>A (p.Ile388Asn) c.865T>A (n.865T>A) c.*468T>A (n.*468T>A) n.13T>A c.1244T>A (p.Ile415Asn) c.1157T>A (p.Ile386Asn) c.1265T>A (p.Ile422Asn) c.1262T>A (p.Ile421Asn) c.1181T>A (p.Ile394Asn) c.1178T>A (p.Ile393Asn) | |
X | g.20172853T>A | CA412516579 | RPS6KA3 | c.1246A>T (p.Ile416Phe) c.1159A>T (p.Ile387Phe) c.1162A>T (p.Ile388Phe) c.864A>T (n.864A>T) c.*467A>T (n.*467A>T) n.12A>T c.1243A>T (p.Ile415Phe) c.1156A>T (p.Ile386Phe) c.1264A>T (p.Ile422Phe) c.1261A>T (p.Ile421Phe) c.1180A>T (p.Ile394Phe) c.1177A>T (p.Ile393Phe) | |
X | g.20172853T>C | CA10366137 | RPS6KA3 | c.1246A>G (p.Ile416Val) c.1159A>G (p.Ile387Val) c.1162A>G (p.Ile388Val) c.864A>G (n.864A>G) c.*467A>G (n.*467A>G) n.12A>G c.1243A>G (p.Ile415Val) c.1156A>G (p.Ile386Val) c.1264A>G (p.Ile422Val) c.1261A>G (p.Ile421Val) c.1180A>G (p.Ile394Val) c.1177A>G (p.Ile393Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.20172853T>G | CA412516580 | RPS6KA3 | c.1246A>C (p.Ile416Leu) c.1159A>C (p.Ile387Leu) c.1162A>C (p.Ile388Leu) c.864A>C (n.864A>C) c.*467A>C (n.*467A>C) n.12A>C c.1243A>C (p.Ile415Leu) c.1156A>C (p.Ile386Leu) c.1264A>C (p.Ile422Leu) c.1261A>C (p.Ile421Leu) c.1180A>C (p.Ile394Leu) c.1177A>C (p.Ile393Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.20172853T= | CA2418508467 | RPS6KA3 | c.1246A= (p.Ile416=) c.1159A= (p.Ile387=) c.1162A= (p.Ile388=) c.864A= (n.864A=) c.*467A= (n.*467A=) n.12A= c.1243A= (p.Ile415=) c.1156A= (p.Ile386=) c.1264A= (p.Ile422=) c.1261A= (p.Ile421=) c.1180A= (p.Ile394=) c.1177A= (p.Ile393=) | |
X | g.20172854A>C | CA412516583 | RPS6KA3 | c.1245T>G (p.Ser415Arg) c.1158T>G (p.Ser386Arg) c.1161T>G (p.Ser387Arg) c.863T>G (n.863T>G) c.*466T>G (n.*466T>G) n.11T>G c.1242T>G (p.Ser414Arg) c.1155T>G (p.Ser385Arg) c.1263T>G (p.Ser421Arg) c.1260T>G (p.Ser420Arg) c.1179T>G (p.Ser393Arg) c.1176T>G (p.Ser392Arg) | |
X | g.20172854A>G | CA515614106 | RPS6KA3 | c.1245T>C (p.Ser415=) c.1158T>C (p.Ser386=) c.1161T>C (p.Ser387=) c.863T>C (n.863T>C) c.*466T>C (n.*466T>C) n.11T>C c.1242T>C (p.Ser414=) c.1155T>C (p.Ser385=) c.1263T>C (p.Ser421=) c.1260T>C (p.Ser420=) c.1179T>C (p.Ser393=) c.1176T>C (p.Ser392=) | |
X | g.20172854A>T | CA412516585 | RPS6KA3 | c.1245T>A (p.Ser415Arg) c.1158T>A (p.Ser386Arg) c.1161T>A (p.Ser387Arg) c.863T>A (n.863T>A) c.*466T>A (n.*466T>A) n.11T>A c.1242T>A (p.Ser414Arg) c.1155T>A (p.Ser385Arg) c.1263T>A (p.Ser421Arg) c.1260T>A (p.Ser420Arg) c.1179T>A (p.Ser393Arg) c.1176T>A (p.Ser392Arg) | |
X | g.20172855C>A | CA412516586 | RPS6KA3 | c.1244G>T (p.Ser415Ile) c.1157G>T (p.Ser386Ile) c.1160G>T (p.Ser387Ile) c.862G>T (n.862G>T) c.*465G>T (n.*465G>T) n.10G>T c.1241G>T (p.Ser414Ile) c.1154G>T (p.Ser385Ile) c.1262G>T (p.Ser421Ile) c.1259G>T (p.Ser420Ile) c.1178G>T (p.Ser393Ile) c.1175G>T (p.Ser392Ile) | ClinVar dbSNP gnomAD v4 |
X | g.20172855C>G | CA412516588 | RPS6KA3 | c.1244G>C (p.Ser415Thr) c.1157G>C (p.Ser386Thr) c.1160G>C (p.Ser387Thr) c.862G>C (n.862G>C) c.*465G>C (n.*465G>C) n.10G>C c.1241G>C (p.Ser414Thr) c.1154G>C (p.Ser385Thr) c.1262G>C (p.Ser421Thr) c.1259G>C (p.Ser420Thr) c.1178G>C (p.Ser393Thr) c.1175G>C (p.Ser392Thr) | |
X | g.20172855C>T | CA412516590 | RPS6KA3 | c.1244G>A (p.Ser415Asn) c.1157G>A (p.Ser386Asn) c.1160G>A (p.Ser387Asn) c.862G>A (n.862G>A) c.*465G>A (n.*465G>A) n.10G>A c.1241G>A (p.Ser414Asn) c.1154G>A (p.Ser385Asn) c.1262G>A (p.Ser421Asn) c.1259G>A (p.Ser420Asn) c.1178G>A (p.Ser393Asn) c.1175G>A (p.Ser392Asn) | |
X | g.20172856T>A | CA412516595 | RPS6KA3 | c.1243A>T (p.Ser415Cys) c.1156A>T (p.Ser386Cys) c.1159A>T (p.Ser387Cys) c.861A>T (n.861A>T) c.*464A>T (n.*464A>T) n.9A>T c.1240A>T (p.Ser414Cys) c.1153A>T (p.Ser385Cys) c.1261A>T (p.Ser421Cys) c.1258A>T (p.Ser420Cys) c.1177A>T (p.Ser393Cys) c.1174A>T (p.Ser392Cys) | |
X | g.20172856T>C | CA412516593 | RPS6KA3 | c.1243A>G (p.Ser415Gly) c.1156A>G (p.Ser386Gly) c.1159A>G (p.Ser387Gly) c.861A>G (n.861A>G) c.*464A>G (n.*464A>G) n.9A>G c.1240A>G (p.Ser414Gly) c.1153A>G (p.Ser385Gly) c.1261A>G (p.Ser421Gly) c.1258A>G (p.Ser420Gly) c.1177A>G (p.Ser393Gly) c.1174A>G (p.Ser392Gly) | dbSNP |
X | g.20172856T>G | CA412516592 | RPS6KA3 | c.1243A>C (p.Ser415Arg) c.1156A>C (p.Ser386Arg) c.1159A>C (p.Ser387Arg) c.861A>C (n.861A>C) c.*464A>C (n.*464A>C) n.9A>C c.1240A>C (p.Ser414Arg) c.1153A>C (p.Ser385Arg) c.1261A>C (p.Ser421Arg) c.1258A>C (p.Ser420Arg) c.1177A>C (p.Ser393Arg) c.1174A>C (p.Ser392Arg) | |
X | g.20172856T= | CA2418508468 | RPS6KA3 | c.1243A= (p.Ser415=) c.1156A= (p.Ser386=) c.1159A= (p.Ser387=) c.861A= (n.861A=) c.*464A= (n.*464A=) n.9A= c.1240A= (p.Ser414=) c.1153A= (p.Ser385=) c.1261A= (p.Ser421=) c.1258A= (p.Ser420=) c.1177A= (p.Ser393=) c.1174A= (p.Ser392=) | |
X | g.20172857G>A | CA10366138 | RPS6KA3 | c.1242C>T (p.Asn414=) c.1155C>T (p.Asn385=) c.1158C>T (p.Asn386=) c.860C>T (n.860C>T) c.*463C>T (n.*463C>T) n.8C>T c.1239C>T (p.Asn413=) c.1152C>T (p.Asn384=) c.1260C>T (p.Asn420=) c.1257C>T (p.Asn419=) c.1176C>T (p.Asn392=) c.1173C>T (p.Asn391=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20172857G>C | CA412516598 | RPS6KA3 | c.1242C>G (p.Asn414Lys) c.1155C>G (p.Asn385Lys) c.1158C>G (p.Asn386Lys) c.860C>G (n.860C>G) c.*463C>G (n.*463C>G) n.8C>G c.1239C>G (p.Asn413Lys) c.1152C>G (p.Asn384Lys) c.1260C>G (p.Asn420Lys) c.1257C>G (p.Asn419Lys) c.1176C>G (p.Asn392Lys) c.1173C>G (p.Asn391Lys) | |
X | g.20172857G= | CA2418508469 | RPS6KA3 | c.1242C= (p.Asn414=) c.1155C= (p.Asn385=) c.1158C= (p.Asn386=) c.860C= (n.860C=) c.*463C= (n.*463C=) n.8C= c.1239C= (p.Asn413=) c.1152C= (p.Asn384=) c.1260C= (p.Asn420=) c.1257C= (p.Asn419=) c.1176C= (p.Asn392=) c.1173C= (p.Asn391=) | |
X | g.20172857G>T | CA412516600 | RPS6KA3 | c.1242C>A (p.Asn414Lys) c.1155C>A (p.Asn385Lys) c.1158C>A (p.Asn386Lys) c.860C>A (n.860C>A) c.*463C>A (n.*463C>A) n.8C>A c.1239C>A (p.Asn413Lys) c.1152C>A (p.Asn384Lys) c.1260C>A (p.Asn420Lys) c.1257C>A (p.Asn419Lys) c.1176C>A (p.Asn392Lys) c.1173C>A (p.Asn391Lys) | |
X | g.20172858T>A | CA412516603 | RPS6KA3 | c.1241A>T (p.Asn414Ile) c.1154A>T (p.Asn385Ile) c.1157A>T (p.Asn386Ile) c.859A>T (n.859A>T) c.*462A>T (n.*462A>T) n.7A>T c.1238A>T (p.Asn413Ile) c.1151A>T (p.Asn384Ile) c.1259A>T (p.Asn420Ile) c.1256A>T (p.Asn419Ile) c.1175A>T (p.Asn392Ile) c.1172A>T (p.Asn391Ile) | |
X | g.20172858T>C | CA412516605 | RPS6KA3 | c.1241A>G (p.Asn414Ser) c.1154A>G (p.Asn385Ser) c.1157A>G (p.Asn386Ser) c.859A>G (n.859A>G) c.*462A>G (n.*462A>G) n.7A>G c.1238A>G (p.Asn413Ser) c.1151A>G (p.Asn384Ser) c.1259A>G (p.Asn420Ser) c.1256A>G (p.Asn419Ser) c.1175A>G (p.Asn392Ser) c.1172A>G (p.Asn391Ser) | dbSNP |
X | g.20172858T>G | CA412516607 | RPS6KA3 | c.1241A>C (p.Asn414Thr) c.1154A>C (p.Asn385Thr) c.1157A>C (p.Asn386Thr) c.859A>C (n.859A>C) c.*462A>C (n.*462A>C) n.7A>C c.1238A>C (p.Asn413Thr) c.1151A>C (p.Asn384Thr) c.1259A>C (p.Asn420Thr) c.1256A>C (p.Asn419Thr) c.1175A>C (p.Asn392Thr) c.1172A>C (p.Asn391Thr) | |
X | g.20172858T= | CA2418508470 | RPS6KA3 | c.1241A= (p.Asn414=) c.1154A= (p.Asn385=) c.1157A= (p.Asn386=) c.859A= (n.859A=) c.*462A= (n.*462A=) n.7A= c.1238A= (p.Asn413=) c.1151A= (p.Asn384=) c.1259A= (p.Asn420=) c.1256A= (p.Asn419=) c.1175A= (p.Asn392=) c.1172A= (p.Asn391=) | |
X | g.20172859T>A | CA412516613 | RPS6KA3 | c.1240A>T (p.Asn414Tyr) c.1153A>T (p.Asn385Tyr) c.1156A>T (p.Asn386Tyr) c.858A>T (n.858A>T) c.*461A>T (n.*461A>T) n.6A>T c.1237A>T (p.Asn413Tyr) c.1150A>T (p.Asn384Tyr) c.1258A>T (p.Asn420Tyr) c.1255A>T (p.Asn419Tyr) c.1174A>T (p.Asn392Tyr) c.1171A>T (p.Asn391Tyr) | |
X | g.20172859T>C | CA412516609 | RPS6KA3 | c.1240A>G (p.Asn414Asp) c.1153A>G (p.Asn385Asp) c.1156A>G (p.Asn386Asp) c.858A>G (n.858A>G) c.*461A>G (n.*461A>G) n.6A>G c.1237A>G (p.Asn413Asp) c.1150A>G (p.Asn384Asp) c.1258A>G (p.Asn420Asp) c.1255A>G (p.Asn419Asp) c.1174A>G (p.Asn392Asp) c.1171A>G (p.Asn391Asp) | COSMIC |
X | g.20172859T>G | CA412516611 | RPS6KA3 | c.1240A>C (p.Asn414His) c.1153A>C (p.Asn385His) c.1156A>C (p.Asn386His) c.858A>C (n.858A>C) c.*461A>C (n.*461A>C) n.6A>C c.1237A>C (p.Asn413His) c.1150A>C (p.Asn384His) c.1258A>C (p.Asn420His) c.1255A>C (p.Asn419His) c.1174A>C (p.Asn392His) c.1171A>C (p.Asn391His) | |
X | g.20172860C>A | CA412516615 | RPS6KA3 | c.1239G>T (p.Arg413Ser) c.1152G>T (p.Arg384Ser) c.1155G>T (p.Arg385Ser) c.857G>T (n.857G>T) c.*460G>T (n.*460G>T) n.5G>T c.1236G>T (p.Arg412Ser) c.1149G>T (p.Arg383Ser) c.1257G>T (p.Arg419Ser) c.1254G>T (p.Arg418Ser) c.1173G>T (p.Arg391Ser) c.1170G>T (p.Arg390Ser) | |
X | g.20172860C>G | CA412516617 | RPS6KA3 | c.1239G>C (p.Arg413Ser) c.1152G>C (p.Arg384Ser) c.1155G>C (p.Arg385Ser) c.857G>C (n.857G>C) c.*460G>C (n.*460G>C) n.5G>C c.1236G>C (p.Arg412Ser) c.1149G>C (p.Arg383Ser) c.1257G>C (p.Arg419Ser) c.1254G>C (p.Arg418Ser) c.1173G>C (p.Arg391Ser) c.1170G>C (p.Arg390Ser) | |
X | g.20172860C>T | CA515614107 | RPS6KA3 | c.1239G>A (p.Arg413=) c.1152G>A (p.Arg384=) c.1155G>A (p.Arg385=) c.857G>A (n.857G>A) c.*460G>A (n.*460G>A) n.5G>A c.1236G>A (p.Arg412=) c.1149G>A (p.Arg383=) c.1257G>A (p.Arg419=) c.1254G>A (p.Arg418=) c.1173G>A (p.Arg391=) c.1170G>A (p.Arg390=) | |
X | g.20172861C>A | CA412516620 | RPS6KA3 | c.1238G>T (p.Arg413Met) c.1151G>T (p.Arg384Met) c.1154G>T (p.Arg385Met) c.856G>T (n.856G>T) c.*459G>T (n.*459G>T) n.4G>T c.1235G>T (p.Arg412Met) c.1148G>T (p.Arg383Met) c.1256G>T (p.Arg419Met) c.1253G>T (p.Arg418Met) c.1172G>T (p.Arg391Met) c.1169G>T (p.Arg390Met) | |
X | g.20172861C>G | CA412516622 | RPS6KA3 | c.1238G>C (p.Arg413Thr) c.1151G>C (p.Arg384Thr) c.1154G>C (p.Arg385Thr) c.856G>C (n.856G>C) c.*459G>C (n.*459G>C) n.4G>C c.1235G>C (p.Arg412Thr) c.1148G>C (p.Arg383Thr) c.1256G>C (p.Arg419Thr) c.1253G>C (p.Arg418Thr) c.1172G>C (p.Arg391Thr) c.1169G>C (p.Arg390Thr) | |
X | g.20172861C>T | CA412516623 | RPS6KA3 | c.1238G>A (p.Arg413Lys) c.1151G>A (p.Arg384Lys) c.1154G>A (p.Arg385Lys) c.856G>A (n.856G>A) c.*459G>A (n.*459G>A) n.4G>A c.1235G>A (p.Arg412Lys) c.1148G>A (p.Arg383Lys) c.1256G>A (p.Arg419Lys) c.1253G>A (p.Arg418Lys) c.1172G>A (p.Arg391Lys) c.1169G>A (p.Arg390Lys) | |
X | g.20172862T>A | CA412516626 | RPS6KA3 | c.1237A>T (p.Arg413Trp) c.1150A>T (p.Arg384Trp) c.1153A>T (p.Arg385Trp) c.855A>T (n.855A>T) c.*458A>T (n.*458A>T) n.3A>T c.1234A>T (p.Arg412Trp) c.1147A>T (p.Arg383Trp) c.1255A>T (p.Arg419Trp) c.1252A>T (p.Arg418Trp) c.1171A>T (p.Arg391Trp) c.1168A>T (p.Arg390Trp) | |
X | g.20172862T>C | CA10366139 | RPS6KA3 | c.1237A>G (p.Arg413Gly) c.1150A>G (p.Arg384Gly) c.1153A>G (p.Arg385Gly) c.855A>G (n.855A>G) c.*458A>G (n.*458A>G) n.3A>G c.1234A>G (p.Arg412Gly) c.1147A>G (p.Arg383Gly) c.1255A>G (p.Arg419Gly) c.1252A>G (p.Arg418Gly) c.1171A>G (p.Arg391Gly) c.1168A>G (p.Arg390Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20172862T>G | CA515614108 | RPS6KA3 | c.1237A>C (p.Arg413=) c.1150A>C (p.Arg384=) c.1153A>C (p.Arg385=) c.855A>C (n.855A>C) c.*458A>C (n.*458A>C) n.3A>C c.1234A>C (p.Arg412=) c.1147A>C (p.Arg383=) c.1255A>C (p.Arg419=) c.1252A>C (p.Arg418=) c.1171A>C (p.Arg391=) c.1168A>C (p.Arg390=) | |
X | g.20172862T= | CA2418508471 | RPS6KA3 | c.1237A= (p.Arg413=) c.1150A= (p.Arg384=) c.1153A= (p.Arg385=) c.855A= (n.855A=) c.*458A= (n.*458A=) n.3A= c.1234A= (p.Arg412=) c.1147A= (p.Arg383=) c.1255A= (p.Arg419=) c.1252A= (p.Arg418=) c.1171A= (p.Arg391=) c.1168A= (p.Arg390=) | |
X | g.20172863G>A | CA515614109 | RPS6KA3 | c.1236C>T (p.His412=) c.1149C>T (p.His383=) c.1152C>T (p.His384=) c.854C>T (n.854C>T) c.*457C>T (n.*457C>T) n.2C>T c.1233C>T (p.His411=) c.1146C>T (p.His382=) c.1254C>T (p.His418=) c.1251C>T (p.His417=) c.1170C>T (p.His390=) c.1167C>T (p.His389=) | |
X | g.20172863G>C | CA412516628 | RPS6KA3 | c.1236C>G (p.His412Gln) c.1149C>G (p.His383Gln) c.1152C>G (p.His384Gln) c.854C>G (n.854C>G) c.*457C>G (n.*457C>G) n.2C>G c.1233C>G (p.His411Gln) c.1146C>G (p.His382Gln) c.1254C>G (p.His418Gln) c.1251C>G (p.His417Gln) c.1170C>G (p.His390Gln) c.1167C>G (p.His389Gln) | |
X | g.20172863G>T | CA412516630 | RPS6KA3 | c.1236C>A (p.His412Gln) c.1149C>A (p.His383Gln) c.1152C>A (p.His384Gln) c.854C>A (n.854C>A) c.*457C>A (n.*457C>A) n.2C>A c.1233C>A (p.His411Gln) c.1146C>A (p.His382Gln) c.1254C>A (p.His418Gln) c.1251C>A (p.His417Gln) c.1170C>A (p.His390Gln) c.1167C>A (p.His389Gln) | |
X | g.20172864T>A | CA412516632 | RPS6KA3 | c.1235A>T (p.His412Leu) c.1148A>T (p.His383Leu) c.1151A>T (p.His384Leu) c.853A>T (n.853A>T) c.*456A>T (n.*456A>T) n.1A>T c.1232A>T (p.His411Leu) c.1145A>T (p.His382Leu) c.1253A>T (p.His418Leu) c.1250A>T (p.His417Leu) c.1169A>T (p.His390Leu) c.1166A>T (p.His389Leu) | |
X | g.20172864T>C | CA412516633 | RPS6KA3 | c.1235A>G (p.His412Arg) c.1148A>G (p.His383Arg) c.1151A>G (p.His384Arg) c.853A>G (n.853A>G) c.*456A>G (n.*456A>G) n.1A>G c.1232A>G (p.His411Arg) c.1145A>G (p.His382Arg) c.1253A>G (p.His418Arg) c.1250A>G (p.His417Arg) c.1169A>G (p.His390Arg) c.1166A>G (p.His389Arg) | |
X | g.20172864T>G | CA412516635 | RPS6KA3 | c.1235A>C (p.His412Pro) c.1148A>C (p.His383Pro) c.1151A>C (p.His384Pro) c.853A>C (n.853A>C) c.*456A>C (n.*456A>C) n.1A>C c.1232A>C (p.His411Pro) c.1145A>C (p.His382Pro) c.1253A>C (p.His418Pro) c.1250A>C (p.His417Pro) c.1169A>C (p.His390Pro) c.1166A>C (p.His389Pro) | |
X | g.20172865G>A | CA412516637 | RPS6KA3 | c.1234C>T (p.His412Tyr) c.1147C>T (p.His383Tyr) c.1150C>T (p.His384Tyr) c.852C>T (n.852C>T) c.*455C>T (n.*455C>T) c.1231C>T (p.His411Tyr) c.1144C>T (p.His382Tyr) c.1252C>T (p.His418Tyr) c.1249C>T (p.His417Tyr) c.1168C>T (p.His390Tyr) c.1165C>T (p.His389Tyr) | |
X | g.20172865G>C | CA412516647 | RPS6KA3 | c.1234C>G (p.His412Asp) c.1147C>G (p.His383Asp) c.1150C>G (p.His384Asp) c.852C>G (n.852C>G) c.*455C>G (n.*455C>G) c.1231C>G (p.His411Asp) c.1144C>G (p.His382Asp) c.1252C>G (p.His418Asp) c.1249C>G (p.His417Asp) c.1168C>G (p.His390Asp) c.1165C>G (p.His389Asp) | |
X | g.20172865G>T | CA412516644 | RPS6KA3 | c.1234C>A (p.His412Asn) c.1147C>A (p.His383Asn) c.1150C>A (p.His384Asn) c.852C>A (n.852C>A) c.*455C>A (n.*455C>A) c.1231C>A (p.His411Asn) c.1144C>A (p.His382Asn) c.1252C>A (p.His418Asn) c.1249C>A (p.His417Asn) c.1168C>A (p.His390Asn) c.1165C>A (p.His389Asn) | |
X | g.20172866T>A | CA412516649 | RPS6KA3 | c.1233A>T (p.Leu411Phe) c.1146A>T (p.Leu382Phe) c.1149A>T (p.Leu383Phe) c.851A>T (n.851A>T) c.*454A>T (n.*454A>T) c.1230A>T (p.Leu410Phe) c.1143A>T (p.Leu381Phe) c.1251A>T (p.Leu417Phe) c.1248A>T (p.Leu416Phe) c.1167A>T (p.Leu389Phe) c.1164A>T (p.Leu388Phe) | |
X | g.20172866T>C | CA515614110 | RPS6KA3 | c.1233A>G (p.Leu411=) c.1146A>G (p.Leu382=) c.1149A>G (p.Leu383=) c.851A>G (n.851A>G) c.*454A>G (n.*454A>G) c.1230A>G (p.Leu410=) c.1143A>G (p.Leu381=) c.1251A>G (p.Leu417=) c.1248A>G (p.Leu416=) c.1167A>G (p.Leu389=) c.1164A>G (p.Leu388=) | |
X | g.20172866T>G | CA412516650 | RPS6KA3 | c.1233A>C (p.Leu411Phe) c.1146A>C (p.Leu382Phe) c.1149A>C (p.Leu383Phe) c.851A>C (n.851A>C) c.*454A>C (n.*454A>C) c.1230A>C (p.Leu410Phe) c.1143A>C (p.Leu381Phe) c.1251A>C (p.Leu417Phe) c.1248A>C (p.Leu416Phe) c.1167A>C (p.Leu389Phe) c.1164A>C (p.Leu388Phe) | |
X | g.20172867A>C | CA412516653 | RPS6KA3 | c.1232T>G (p.Leu411Ter) c.1145T>G (p.Leu382Ter) c.1148T>G (p.Leu383Ter) c.850T>G (n.850T>G) c.*453T>G (n.*453T>G) c.1229T>G (p.Leu410Ter) c.1142T>G (p.Leu381Ter) c.1250T>G (p.Leu417Ter) c.1247T>G (p.Leu416Ter) c.1166T>G (p.Leu389Ter) c.1163T>G (p.Leu388Ter) | |
X | g.20172867A>G | CA412516655 | RPS6KA3 | c.1232T>C (p.Leu411Ser) c.1145T>C (p.Leu382Ser) c.1148T>C (p.Leu383Ser) c.850T>C (n.850T>C) c.*453T>C (n.*453T>C) c.1229T>C (p.Leu410Ser) c.1142T>C (p.Leu381Ser) c.1250T>C (p.Leu417Ser) c.1247T>C (p.Leu416Ser) c.1166T>C (p.Leu389Ser) c.1163T>C (p.Leu388Ser) | |
X | g.20172867A>T | CA412516657 | RPS6KA3 | c.1232T>A (p.Leu411Ter) c.1145T>A (p.Leu382Ter) c.1148T>A (p.Leu383Ter) c.850T>A (n.850T>A) c.*453T>A (n.*453T>A) c.1229T>A (p.Leu410Ter) c.1142T>A (p.Leu381Ter) c.1250T>A (p.Leu417Ter) c.1247T>A (p.Leu416Ter) c.1166T>A (p.Leu389Ter) c.1163T>A (p.Leu388Ter) | |
X | g.20172868A>C | CA412516659 | RPS6KA3 | c.1231T>G (p.Leu411Val) c.1144T>G (p.Leu382Val) c.1147T>G (p.Leu383Val) c.849T>G (n.849T>G) c.*452T>G (n.*452T>G) c.1228T>G (p.Leu410Val) c.1141T>G (p.Leu381Val) c.1249T>G (p.Leu417Val) c.1246T>G (p.Leu416Val) c.1165T>G (p.Leu389Val) c.1162T>G (p.Leu388Val) | |
X | g.20172868A>G | CA515614111 | RPS6KA3 | c.1231T>C (p.Leu411=) c.1144T>C (p.Leu382=) c.1147T>C (p.Leu383=) c.849T>C (n.849T>C) c.*452T>C (n.*452T>C) c.1228T>C (p.Leu410=) c.1141T>C (p.Leu381=) c.1249T>C (p.Leu417=) c.1246T>C (p.Leu416=) c.1165T>C (p.Leu389=) c.1162T>C (p.Leu388=) | |
X | g.20172868A>T | CA412516661 | RPS6KA3 | c.1231T>A (p.Leu411Ile) c.1144T>A (p.Leu382Ile) c.1147T>A (p.Leu383Ile) c.849T>A (n.849T>A) c.*452T>A (n.*452T>A) c.1228T>A (p.Leu410Ile) c.1141T>A (p.Leu381Ile) c.1249T>A (p.Leu417Ile) c.1246T>A (p.Leu416Ile) c.1165T>A (p.Leu389Ile) c.1162T>A (p.Leu388Ile) | |
X | g.20172869C>A | CA412516664 | RPS6KA3 | c.1230G>T (p.Gln410His) c.1143G>T (p.Gln381His) c.1146G>T (p.Gln382His) c.848G>T (n.848G>T) c.1144-1G>T (n.1144-1G>T) c.*451G>T (n.*451G>T) c.1228-1G>T (n.1228-1G>T) c.1141-1G>T (n.1141-1G>T) c.1248G>T (p.Gln416His) c.1246-1G>T (n.1246-1G>T) c.1164G>T (p.Gln388His) c.1161G>T (p.Gln387His) | |
X | g.20172869C>G | CA412516666 | RPS6KA3 | c.1230G>C (p.Gln410His) c.1143G>C (p.Gln381His) c.1146G>C (p.Gln382His) c.848G>C (n.848G>C) c.1144-1G>C (n.1144-1G>C) c.*451G>C (n.*451G>C) c.1228-1G>C (n.1228-1G>C) c.1141-1G>C (n.1141-1G>C) c.1248G>C (p.Gln416His) c.1246-1G>C (n.1246-1G>C) c.1164G>C (p.Gln388His) c.1161G>C (p.Gln387His) | |
X | g.20172869C>T | CA515614112 | RPS6KA3 | c.1230G>A (p.Gln410=) c.1143G>A (p.Gln381=) c.1146G>A (p.Gln382=) c.848G>A (n.848G>A) c.1144-1G>A (n.1144-1G>A) c.*451G>A (n.*451G>A) c.1228-1G>A (n.1228-1G>A) c.1141-1G>A (n.1141-1G>A) c.1248G>A (p.Gln416=) c.1246-1G>A (n.1246-1G>A) c.1164G>A (p.Gln388=) c.1161G>A (p.Gln387=) | |
X | g.20172870T>A | CA412516668 | RPS6KA3 | c.1229A>T (p.Gln410Leu) c.1142A>T (p.Gln381Leu) c.1145A>T (p.Gln382Leu) c.847A>T (n.847A>T) c.1144-2A>T (n.1144-2A>T) c.*450A>T (n.*450A>T) c.1228-2A>T (n.1228-2A>T) c.1141-2A>T (n.1141-2A>T) c.1247A>T (p.Gln416Leu) c.1246-2A>T (n.1246-2A>T) c.1163A>T (p.Gln388Leu) c.1160A>T (p.Gln387Leu) | |
X | g.20172870T>C | CA412516669 | RPS6KA3 | c.1229A>G (p.Gln410Arg) c.1142A>G (p.Gln381Arg) c.1145A>G (p.Gln382Arg) c.847A>G (n.847A>G) c.1144-2A>G (n.1144-2A>G) c.*450A>G (n.*450A>G) c.1228-2A>G (n.1228-2A>G) c.1141-2A>G (n.1141-2A>G) c.1247A>G (p.Gln416Arg) c.1246-2A>G (n.1246-2A>G) c.1163A>G (p.Gln388Arg) c.1160A>G (p.Gln387Arg) | gnomAD v4 |
X | g.20172870T>G | CA412516670 | RPS6KA3 | c.1229A>C (p.Gln410Pro) c.1142A>C (p.Gln381Pro) c.1145A>C (p.Gln382Pro) c.847A>C (n.847A>C) c.1144-2A>C (n.1144-2A>C) c.*450A>C (n.*450A>C) c.1228-2A>C (n.1228-2A>C) c.1141-2A>C (n.1141-2A>C) c.1247A>C (p.Gln416Pro) c.1246-2A>C (n.1246-2A>C) c.1163A>C (p.Gln388Pro) c.1160A>C (p.Gln387Pro) | |
X | g.20172871G>A | CA412516675 | RPS6KA3 | c.1228C>T (p.Gln410Ter) c.1141C>T (p.Gln381Ter) c.1144C>T (p.Gln382Ter) c.846C>T (n.846C>T) c.1144-3C>T (n.1144-3C>T) c.*449C>T (n.*449C>T) c.1228-3C>T (n.1228-3C>T) c.1141-3C>T (n.1141-3C>T) c.1246C>T (p.Gln416Ter) c.1246-3C>T (n.1246-3C>T) c.1162C>T (p.Gln388Ter) c.1159C>T (p.Gln387Ter) | |
X | g.20172871G>C | CA412516671 | RPS6KA3 | c.1228C>G (p.Gln410Glu) c.1141C>G (p.Gln381Glu) c.1144C>G (p.Gln382Glu) c.846C>G (n.846C>G) c.1144-3C>G (n.1144-3C>G) c.*449C>G (n.*449C>G) c.1228-3C>G (n.1228-3C>G) c.1141-3C>G (n.1141-3C>G) c.1246C>G (p.Gln416Glu) c.1246-3C>G (n.1246-3C>G) c.1162C>G (p.Gln388Glu) c.1159C>G (p.Gln387Glu) | |
X | g.20172871G>T | CA412516674 | RPS6KA3 | c.1228C>A (p.Gln410Lys) c.1141C>A (p.Gln381Lys) c.1144C>A (p.Gln382Lys) c.846C>A (n.846C>A) c.1144-3C>A (n.1144-3C>A) c.*449C>A (n.*449C>A) c.1228-3C>A (n.1228-3C>A) c.1141-3C>A (n.1141-3C>A) c.1246C>A (p.Gln416Lys) c.1246-3C>A (n.1246-3C>A) c.1162C>A (p.Gln388Lys) c.1159C>A (p.Gln387Lys) | |
X | g.20172872C>A | CA412516676 | RPS6KA3 | c.1228-1G>T (n.1228-1G>T) c.1141-1G>T (n.1141-1G>T) c.1144-1G>T (n.1144-1G>T) c.846-1G>T (n.846-1G>T) c.1144-4G>T (n.1144-4G>T) c.*449-1G>T (n.*449-1G>T) c.1228-4G>T (n.1228-4G>T) c.1141-4G>T (n.1141-4G>T) c.1246-1G>T (n.1246-1G>T) c.1246-4G>T (n.1246-4G>T) c.1162-1G>T (n.1162-1G>T) c.1159-1G>T (n.1159-1G>T) | |
X | g.20172872C>G | CA412516677 | RPS6KA3 | c.1228-1G>C (n.1228-1G>C) c.1141-1G>C (n.1141-1G>C) c.1144-1G>C (n.1144-1G>C) c.846-1G>C (n.846-1G>C) c.1144-4G>C (n.1144-4G>C) c.*449-1G>C (n.*449-1G>C) c.1228-4G>C (n.1228-4G>C) c.1141-4G>C (n.1141-4G>C) c.1246-1G>C (n.1246-1G>C) c.1246-4G>C (n.1246-4G>C) c.1162-1G>C (n.1162-1G>C) c.1159-1G>C (n.1159-1G>C) | |
X | g.20172872C>T | CA412516678 | RPS6KA3 | c.1228-1G>A (n.1228-1G>A) c.1141-1G>A (n.1141-1G>A) c.1144-1G>A (n.1144-1G>A) c.846-1G>A (n.846-1G>A) c.1144-4G>A (n.1144-4G>A) c.*449-1G>A (n.*449-1G>A) c.1228-4G>A (n.1228-4G>A) c.1141-4G>A (n.1141-4G>A) c.1246-1G>A (n.1246-1G>A) c.1246-4G>A (n.1246-4G>A) c.1162-1G>A (n.1162-1G>A) c.1159-1G>A (n.1159-1G>A) | |
X | g.20172873T>A | CA412516679 | RPS6KA3 | c.1228-2A>T (n.1228-2A>T) c.1141-2A>T (n.1141-2A>T) c.1144-2A>T (n.1144-2A>T) c.846-2A>T (n.846-2A>T) c.1144-5A>T (n.1144-5A>T) c.*449-2A>T (n.*449-2A>T) c.1228-5A>T (n.1228-5A>T) c.1141-5A>T (n.1141-5A>T) c.1246-2A>T (n.1246-2A>T) c.1246-5A>T (n.1246-5A>T) c.1162-2A>T (n.1162-2A>T) c.1159-2A>T (n.1159-2A>T) | |
X | g.20172873T>C | CA412516680 | RPS6KA3 | c.1228-2A>G (n.1228-2A>G) c.1141-2A>G (n.1141-2A>G) c.1144-2A>G (n.1144-2A>G) c.846-2A>G (n.846-2A>G) c.1144-5A>G (n.1144-5A>G) c.*449-2A>G (n.*449-2A>G) c.1228-5A>G (n.1228-5A>G) c.1141-5A>G (n.1141-5A>G) c.1246-2A>G (n.1246-2A>G) c.1246-5A>G (n.1246-5A>G) c.1162-2A>G (n.1162-2A>G) c.1159-2A>G (n.1159-2A>G) | |
X | g.20172873T>G | CA412516682 | RPS6KA3 | c.1228-2A>C (n.1228-2A>C) c.1141-2A>C (n.1141-2A>C) c.1144-2A>C (n.1144-2A>C) c.846-2A>C (n.846-2A>C) c.1144-5A>C (n.1144-5A>C) c.*449-2A>C (n.*449-2A>C) c.1228-5A>C (n.1228-5A>C) c.1141-5A>C (n.1141-5A>C) c.1246-2A>C (n.1246-2A>C) c.1246-5A>C (n.1246-5A>C) c.1162-2A>C (n.1162-2A>C) c.1159-2A>C (n.1159-2A>C) | |
X | g.20172875C= | CA2418508472 | RPS6KA3 | c.1228-4G= (n.1228-4G=) c.1141-4G= (n.1141-4G=) c.1144-4G= (n.1144-4G=) c.846-4G= (n.846-4G=) c.1144-7G= (n.1144-7G=) c.*449-4G= (n.*449-4G=) c.1228-7G= (n.1228-7G=) c.1141-7G= (n.1141-7G=) c.1246-4G= (n.1246-4G=) c.1246-7G= (n.1246-7G=) c.1162-4G= (n.1162-4G=) c.1159-4G= (n.1159-4G=) | |
X | g.20172875C>T | CA2418508473 | RPS6KA3 | c.1228-4G>A (n.1228-4G>A) c.1141-4G>A (n.1141-4G>A) c.1144-4G>A (n.1144-4G>A) c.846-4G>A (n.846-4G>A) c.1144-7G>A (n.1144-7G>A) c.*449-4G>A (n.*449-4G>A) c.1228-7G>A (n.1228-7G>A) c.1141-7G>A (n.1141-7G>A) c.1246-4G>A (n.1246-4G>A) c.1246-7G>A (n.1246-7G>A) c.1162-4G>A (n.1162-4G>A) c.1159-4G>A (n.1159-4G>A) | dbSNP |
X | g.20172876A= | CA2418508474 | RPS6KA3 | c.1228-5T= (n.1228-5T=) c.1141-5T= (n.1141-5T=) c.1144-5T= (n.1144-5T=) c.846-5T= (n.846-5T=) c.1144-8T= (n.1144-8T=) c.*449-5T= (n.*449-5T=) c.1228-8T= (n.1228-8T=) c.1141-8T= (n.1141-8T=) c.1246-5T= (n.1246-5T=) c.1246-8T= (n.1246-8T=) c.1162-5T= (n.1162-5T=) c.1159-5T= (n.1159-5T=) | |
X | g.20172876A>C | CA1131471375 | RPS6KA3 | c.1228-5T>G (n.1228-5T>G) c.1141-5T>G (n.1141-5T>G) c.1144-5T>G (n.1144-5T>G) c.846-5T>G (n.846-5T>G) c.1144-8T>G (n.1144-8T>G) c.*449-5T>G (n.*449-5T>G) c.1228-8T>G (n.1228-8T>G) c.1141-8T>G (n.1141-8T>G) c.1246-5T>G (n.1246-5T>G) c.1246-8T>G (n.1246-8T>G) c.1162-5T>G (n.1162-5T>G) c.1159-5T>G (n.1159-5T>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.20172881dup | CA10366140 | RPS6KA3 | c.1228-5dup (n.1228-5dup) c.1141-5dup (n.1141-5dup) c.1144-5dup (n.1144-5dup) c.846-5dup (n.846-5dup) c.1144-8dup (n.1144-8dup) c.*449-5dup (n.*449-5dup) c.1228-8dup (n.1228-8dup) c.1141-8dup (n.1141-8dup) c.1246-5dup (n.1246-5dup) c.1246-8dup (n.1246-8dup) c.1162-5dup (n.1162-5dup) c.1159-5dup (n.1159-5dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20172881del | CA2693277427 | RPS6KA3 | c.1228-5del (n.1228-5del) c.1141-5del (n.1141-5del) c.1144-5del (n.1144-5del) c.846-5del (n.846-5del) c.1144-8del (n.1144-8del) c.*449-5del (n.*449-5del) c.1228-8del (n.1228-8del) c.1141-8del (n.1141-8del) c.1246-5del (n.1246-5del) c.1246-8del (n.1246-8del) c.1162-5del (n.1162-5del) c.1159-5del (n.1159-5del) | gnomAD v4 |