Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.20172791_20172795delinsGCAAACA2418508456RPS6KA3c.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=)
Xg.20172794_20172797delCA206513RPS6KA3c.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
Xg.20172794A>CCA515614069RPS6KA3c.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=)
Xg.20172794A>GCA515614067RPS6KA3c.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=)
Xg.20172794A>TCA515614068RPS6KA3c.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=)
Xg.20172795A>CCA412516214RPS6KA3c.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)
Xg.20172795A>GCA412516215RPS6KA3c.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)
Xg.20172795A>TCA412516217RPS6KA3c.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)
Xg.20172795_20172800delCA645601251RPS6KA3c.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
Xg.20172796C>ACA412516220RPS6KA3c.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)
Xg.20172796C=CA2418508458RPS6KA3c.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=)
Xg.20172796C>GCA412516223RPS6KA3c.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
Xg.20172796C>TCA412516229RPS6KA3c.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)
Xg.20172797A=CA2418508459RPS6KA3c.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=)
Xg.20172797A>CCA515614070RPS6KA3c.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=)
Xg.20172797A>GCA515614072RPS6KA3c.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
Xg.20172797A>TCA515614071RPS6KA3c.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=)
Xg.20172798G>ACA412516232RPS6KA3c.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)
Xg.20172798G>CCA412516233RPS6KA3c.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)
Xg.20172798G>TCA412516231RPS6KA3c.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)
Xg.20172799A>CCA412516235RPS6KA3c.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)
Xg.20172799A>GCA412516234RPS6KA3c.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
Xg.20172799A>TCA412516237RPS6KA3c.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)
Xg.20172800G>ACA515614073RPS6KA3c.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=)
Xg.20172800G>CCA412516239RPS6KA3c.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)
Xg.20172800G>TCA412516240RPS6KA3c.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)
Xg.20172801T>ACA412516243RPS6KA3c.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)
Xg.20172801T>CCA412516244RPS6KA3c.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)
Xg.20172801T>GCA412516246RPS6KA3c.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)
Xg.20172802A>CCA412516248RPS6KA3c.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)
Xg.20172802A>GCA412516252RPS6KA3c.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)
Xg.20172802A>TCA412516255RPS6KA3c.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)
Xg.20172803G>ACA10366135RPS6KA3c.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
Xg.20172803G>CCA515614074RPS6KA3c.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=)
Xg.20172803G=CA2418508460RPS6KA3c.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=)
Xg.20172803G>TCA515614075RPS6KA3c.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=)
Xg.20172804G>ACA412516260RPS6KA3c.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
Xg.20172804G>CCA412516261RPS6KA3c.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)
Xg.20172804G=CA2418508461RPS6KA3c.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=)
Xg.20172804G>TCA412516266RPS6KA3c.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)
Xg.20172805A>CCA412516276RPS6KA3c.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)
Xg.20172805A>GCA412516273RPS6KA3c.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)
Xg.20172805A>TCA412516270RPS6KA3c.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)
Xg.20172806G>ACA515614076RPS6KA3c.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=)
Xg.20172806G>CCA515614077RPS6KA3c.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=)
Xg.20172806G>TCA515614078RPS6KA3c.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=)
Xg.20172807C>ACA412516277RPS6KA3c.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)
Xg.20172807C>GCA412516278RPS6KA3c.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)
Xg.20172807C>TCA412516279RPS6KA3c.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)
Xg.20172807_20172808insAGTTTACA2527202632RPS6KA3c.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)
Xg.20172808C>ACA412516281RPS6KA3c.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
Xg.20172808C>GCA412516283RPS6KA3c.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)
Xg.20172808C>TCA412516286RPS6KA3c.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)
Xg.20172809A>CCA515614079RPS6KA3c.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=)
Xg.20172809A>GCA515614080RPS6KA3c.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=)
Xg.20172809A>TCA515614081RPS6KA3c.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=)
Xg.20172810A>CCA412516294RPS6KA3c.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)
Xg.20172810A>GCA412516309RPS6KA3c.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)
Xg.20172810A>TCA412516312RPS6KA3c.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)
Xg.20172811C>ACA412516314RPS6KA3c.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)
Xg.20172811C>GCA412516319RPS6KA3c.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)
Xg.20172811C>TCA412516320RPS6KA3c.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)
Xg.20172812T>ACA515614084RPS6KA3c.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
Xg.20172812T>CCA515614082RPS6KA3c.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
Xg.20172812T>GCA515614083RPS6KA3c.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=)
Xg.20172812T=CA2418508462RPS6KA3c.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=)
Xg.20172813C>ACA412516334RPS6KA3c.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)
Xg.20172813C>GCA412516339RPS6KA3c.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)
Xg.20172813C>TCA412516323RPS6KA3c.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)
Xg.20172814C>ACA412516347RPS6KA3c.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)
Xg.20172814C>GCA412516348RPS6KA3c.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)
Xg.20172814C>TCA412516349RPS6KA3c.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)
Xg.20172815A>CCA412516350RPS6KA3c.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)
Xg.20172815A>GCA515614086RPS6KA3c.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=)
Xg.20172815A>TCA515614085RPS6KA3c.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=)
Xg.20172816A>CCA412516351RPS6KA3c.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)
Xg.20172816A>GCA412516354RPS6KA3c.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)
Xg.20172816A>TCA412516361RPS6KA3c.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)
Xg.20172817T>ACA412516366RPS6KA3c.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)
Xg.20172817T>CCA412516368RPS6KA3c.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)
Xg.20172817T>GCA412516372RPS6KA3c.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)
Xg.20172818A>CCA412516385RPS6KA3c.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)
Xg.20172818A>GCA515614087RPS6KA3c.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=)
Xg.20172818A>TCA412516386RPS6KA3c.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)
Xg.20172819T>ACA412516388RPS6KA3c.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)
Xg.20172819T>CCA412516389RPS6KA3c.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)
Xg.20172819T>GCA412516387RPS6KA3c.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)
Xg.20172820C>ACA412516391RPS6KA3c.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)
Xg.20172820C>GCA412516392RPS6KA3c.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)
Xg.20172820C>TCA412516393RPS6KA3c.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)
Xg.20172821T>ACA412516394RPS6KA3c.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)
Xg.20172821T>CCA515614088RPS6KA3c.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=)
Xg.20172821T>GCA412516396RPS6KA3c.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)
Xg.20172822T>ACA412516403RPS6KA3c.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)
Xg.20172822T>CCA412516398RPS6KA3c.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)
Xg.20172822T>GCA412516402RPS6KA3c.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)
Xg.20172823C>ACA412516404RPS6KA3c.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)
Xg.20172823C>GCA412516407RPS6KA3c.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)
Xg.20172823C>TCA412516408RPS6KA3c.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)
Xg.20172824T>ACA412516412RPS6KA3c.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)
Xg.20172824T>CCA10366136RPS6KA3c.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
Xg.20172824T>GCA412516415RPS6KA3c.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)
Xg.20172824T=CA2418508463RPS6KA3c.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=)
Xg.20172827delCA2579569371RPS6KA3c.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)
Xg.20172826_20172827delCA2819964415RPS6KA3c.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)
Xg.20172825T>ACA412516434RPS6KA3c.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)
Xg.20172825T>CCA412516420RPS6KA3c.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)
Xg.20172825T>GCA412516417RPS6KA3c.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)
Xg.20172826T>ACA412516440RPS6KA3c.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)
Xg.20172826T>CCA412516439RPS6KA3c.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)
Xg.20172826T>GCA412516441RPS6KA3c.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)
Xg.20172827T>ACA515614090RPS6KA3c.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=)
Xg.20172827T>CCA515614091RPS6KA3c.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=)
Xg.20172827T>GCA515614092RPS6KA3c.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=)
Xg.20172828A>CCA412516442RPS6KA3c.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)
Xg.20172828A>GCA412516443RPS6KA3c.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)
Xg.20172828A>TCA412516445RPS6KA3c.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)
Xg.20172829C>ACA412516447RPS6KA3c.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)
Xg.20172829C>GCA412516448RPS6KA3c.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)
Xg.20172829C>TCA412516449RPS6KA3c.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)
Xg.20172830T>ACA412516450RPS6KA3c.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
Xg.20172830T>CCA515614093RPS6KA3c.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=)
Xg.20172830T>GCA412516451RPS6KA3c.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)
Xg.20172830T=CA2418508464RPS6KA3c.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=)
Xg.20172831T>ACA412516453RPS6KA3c.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)
Xg.20172831T>CCA412516456RPS6KA3c.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
Xg.20172831T>GCA412516458RPS6KA3c.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)
Xg.20172832C>ACA412516462RPS6KA3c.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)
Xg.20172832C>GCA412516466RPS6KA3c.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)
Xg.20172832C>TCA412516467RPS6KA3c.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)
Xg.20172833A>CCA412516468RPS6KA3c.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)
Xg.20172833A>GCA515614094RPS6KA3c.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=)
Xg.20172833A>TCA412516469RPS6KA3c.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)
Xg.20172834T>ACA412516470RPS6KA3c.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)
Xg.20172834T>CCA412516471RPS6KA3c.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
Xg.20172834T>GCA412516473RPS6KA3c.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)
Xg.20172835A>CCA412516475RPS6KA3c.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)
Xg.20172835A>GCA412516476RPS6KA3c.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)
Xg.20172835A>TCA412516479RPS6KA3c.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)
Xg.20172836T>ACA515614097RPS6KA3c.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=)
Xg.20172836T>CCA515614096RPS6KA3c.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=)
Xg.20172836T>GCA515614095RPS6KA3c.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=)
Xg.20172837C>ACA412516489RPS6KA3c.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)
Xg.20172837C>GCA412516493RPS6KA3c.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)
Xg.20172837C>TCA412516496RPS6KA3c.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)
Xg.20172838C>ACA412516499RPS6KA3c.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)
Xg.20172838C=CA2418508465RPS6KA3c.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=)
Xg.20172838C>GCA412516502RPS6KA3c.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)
Xg.20172838C>TCA412516503RPS6KA3c.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
Xg.20172839A>CCA412516504RPS6KA3c.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)
Xg.20172839A>GCA515614098RPS6KA3c.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=)
Xg.20172839A>TCA412516505RPS6KA3c.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)
Xg.20172840T>ACA412516506RPS6KA3c.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)
Xg.20172840T>CCA412516507RPS6KA3c.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)
Xg.20172840T>GCA412516510RPS6KA3c.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)
Xg.20172841C>ACA412516514RPS6KA3c.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)
Xg.20172841C>GCA412516516RPS6KA3c.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)
Xg.20172841C>TCA412516518RPS6KA3c.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)
Xg.20172842A>CCA515614099RPS6KA3c.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=)
Xg.20172842A>GCA515614100RPS6KA3c.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=)
Xg.20172842A>TCA515614101RPS6KA3c.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=)
Xg.20172843G>ACA412516530RPS6KA3c.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)
Xg.20172843G>CCA412516521RPS6KA3c.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)
Xg.20172843G>TCA412516528RPS6KA3c.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)
Xg.20172844T>ACA412516532RPS6KA3c.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)
Xg.20172844T>CCA412516534RPS6KA3c.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
Xg.20172844T>GCA412516536RPS6KA3c.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)
Xg.20172845A>CCA412516539RPS6KA3c.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)
Xg.20172845A>GCA515614102RPS6KA3c.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=)
Xg.20172845A>TCA412516540RPS6KA3c.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)
Xg.20172846A>CCA412516543RPS6KA3c.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)
Xg.20172846A>GCA412516546RPS6KA3c.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)
Xg.20172846A>TCA412516545RPS6KA3c.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)
Xg.20172847A>CCA412516549RPS6KA3c.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)
Xg.20172847A>GCA412516551RPS6KA3c.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)
Xg.20172847A>TCA412516553RPS6KA3c.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)
Xg.20172848C>ACA412516555RPS6KA3c.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)
Xg.20172848C>GCA412516556RPS6KA3c.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)
Xg.20172848C>TCA515614103RPS6KA3c.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
Xg.20172849T>ACA412516558RPS6KA3c.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)
Xg.20172849T>CCA412516559RPS6KA3c.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)
Xg.20172849T>GCA412516560RPS6KA3c.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)
Xg.20172850G>ACA412516562RPS6KA3c.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)
Xg.20172850G>CCA412516564RPS6KA3c.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)
Xg.20172850G>TCA412516566RPS6KA3c.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)
Xg.20172851A=CA2418508466RPS6KA3c.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=)
Xg.20172851A>CCA412516568RPS6KA3c.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
Xg.20172851A>GCA515614104RPS6KA3c.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=)
Xg.20172851A>TCA515614105RPS6KA3c.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=)
Xg.20172852A>CCA412516572RPS6KA3c.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)
Xg.20172852A>GCA412516576RPS6KA3c.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)
Xg.20172852A>TCA412516570RPS6KA3c.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)
Xg.20172853T>ACA412516579RPS6KA3c.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)
Xg.20172853T>CCA10366137RPS6KA3c.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
Xg.20172853T>GCA412516580RPS6KA3c.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
Xg.20172853T=CA2418508467RPS6KA3c.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=)
Xg.20172854A>CCA412516583RPS6KA3c.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)
Xg.20172854A>GCA515614106RPS6KA3c.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=)
Xg.20172854A>TCA412516585RPS6KA3c.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)
Xg.20172855C>ACA412516586RPS6KA3c.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
Xg.20172855C>GCA412516588RPS6KA3c.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)
Xg.20172855C>TCA412516590RPS6KA3c.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)
Xg.20172856T>ACA412516595RPS6KA3c.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)
Xg.20172856T>CCA412516593RPS6KA3c.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
Xg.20172856T>GCA412516592RPS6KA3c.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)
Xg.20172856T=CA2418508468RPS6KA3c.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=)
Xg.20172857G>ACA10366138RPS6KA3c.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
Xg.20172857G>CCA412516598RPS6KA3c.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)
Xg.20172857G=CA2418508469RPS6KA3c.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=)
Xg.20172857G>TCA412516600RPS6KA3c.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)
Xg.20172858T>ACA412516603RPS6KA3c.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)
Xg.20172858T>CCA412516605RPS6KA3c.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
Xg.20172858T>GCA412516607RPS6KA3c.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)
Xg.20172858T=CA2418508470RPS6KA3c.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=)
Xg.20172859T>ACA412516613RPS6KA3c.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)
Xg.20172859T>CCA412516609RPS6KA3c.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
Xg.20172859T>GCA412516611RPS6KA3c.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)
Xg.20172860C>ACA412516615RPS6KA3c.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)
Xg.20172860C>GCA412516617RPS6KA3c.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)
Xg.20172860C>TCA515614107RPS6KA3c.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=)
Xg.20172861C>ACA412516620RPS6KA3c.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)
Xg.20172861C>GCA412516622RPS6KA3c.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)
Xg.20172861C>TCA412516623RPS6KA3c.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)
Xg.20172862T>ACA412516626RPS6KA3c.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)
Xg.20172862T>CCA10366139RPS6KA3c.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
Xg.20172862T>GCA515614108RPS6KA3c.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=)
Xg.20172862T=CA2418508471RPS6KA3c.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=)
Xg.20172863G>ACA515614109RPS6KA3c.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=)
Xg.20172863G>CCA412516628RPS6KA3c.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)
Xg.20172863G>TCA412516630RPS6KA3c.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)
Xg.20172864T>ACA412516632RPS6KA3c.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)
Xg.20172864T>CCA412516633RPS6KA3c.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)
Xg.20172864T>GCA412516635RPS6KA3c.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)
Xg.20172865G>ACA412516637RPS6KA3c.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)
Xg.20172865G>CCA412516647RPS6KA3c.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)
Xg.20172865G>TCA412516644RPS6KA3c.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)
Xg.20172866T>ACA412516649RPS6KA3c.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)
Xg.20172866T>CCA515614110RPS6KA3c.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=)
Xg.20172866T>GCA412516650RPS6KA3c.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)
Xg.20172867A>CCA412516653RPS6KA3c.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)
Xg.20172867A>GCA412516655RPS6KA3c.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)
Xg.20172867A>TCA412516657RPS6KA3c.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)
Xg.20172868A>CCA412516659RPS6KA3c.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)
Xg.20172868A>GCA515614111RPS6KA3c.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=)
Xg.20172868A>TCA412516661RPS6KA3c.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)
Xg.20172869C>ACA412516664RPS6KA3c.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)
Xg.20172869C>GCA412516666RPS6KA3c.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)
Xg.20172869C>TCA515614112RPS6KA3c.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=)
Xg.20172870T>ACA412516668RPS6KA3c.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)
Xg.20172870T>CCA412516669RPS6KA3c.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
Xg.20172870T>GCA412516670RPS6KA3c.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)
Xg.20172871G>ACA412516675RPS6KA3c.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)
Xg.20172871G>CCA412516671RPS6KA3c.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)
Xg.20172871G>TCA412516674RPS6KA3c.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)
Xg.20172872C>ACA412516676RPS6KA3c.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)
Xg.20172872C>GCA412516677RPS6KA3c.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)
Xg.20172872C>TCA412516678RPS6KA3c.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)
Xg.20172873T>ACA412516679RPS6KA3c.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)
Xg.20172873T>CCA412516680RPS6KA3c.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)
Xg.20172873T>GCA412516682RPS6KA3c.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)
Xg.20172875C=CA2418508472RPS6KA3c.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=)
Xg.20172875C>TCA2418508473RPS6KA3c.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
Xg.20172876A=CA2418508474RPS6KA3c.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=)
Xg.20172876A>CCA1131471375RPS6KA3c.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
Xg.20172881dupCA10366140RPS6KA3c.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
Xg.20172881delCA2693277427RPS6KA3c.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
Xg.20172877A=CA2418508475RPS6KA3c.1228-6T= (n.1228-6T=)
c.1141-6T= (n.1141-6T=)
c.1144-6T= (n.1144-6T=)
c.846-6T= (n.846-6T=)
c.1144-9T= (n.1144-9T=)
c.*449-6T= (n.*449-6T=)
c.1228-9T= (n.1228-9T=)
c.1141-9T= (n.1141-9T=)
c.1246-6T= (n.1246-6T=)
c.1246-9T= (n.1246-9T=)
c.1162-6T= (n.1162-6T=)
c.1159-6T= (n.1159-6T=)
Xg.20172877A>GCA10366141RPS6KA3c.1228-6T>C (n.1228-6T>C)
c.1141-6T>C (n.1141-6T>C)
c.1144-6T>C (n.1144-6T>C)
c.846-6T>C (n.846-6T>C)
c.1144-9T>C (n.1144-9T>C)
c.*449-6T>C (n.*449-6T>C)
c.1228-9T>C (n.1228-9T>C)
c.1141-9T>C (n.1141-9T>C)
c.1246-6T>C (n.1246-6T>C)
c.1246-9T>C (n.1246-9T>C)
c.1162-6T>C (n.1162-6T>C)
c.1159-6T>C (n.1159-6T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.20172883T>GCA2693277428RPS6KA3c.1228-12A>C (n.1228-12A>C)
c.1141-12A>C (n.1141-12A>C)
c.1144-12A>C (n.1144-12A>C)
c.846-12A>C (n.846-12A>C)
c.1144-15A>C (n.1144-15A>C)
c.*449-12A>C (n.*449-12A>C)
c.1228-15A>C (n.1228-15A>C)
c.1141-15A>C (n.1141-15A>C)
c.1246-12A>C (n.1246-12A>C)
c.1246-15A>C (n.1246-15A>C)
c.1162-12A>C (n.1162-12A>C)
c.1159-12A>C (n.1159-12A>C)
 gnomAD v4
Xg.20172885T>CCA2693277429RPS6KA3c.1228-14A>G (n.1228-14A>G)
c.1141-14A>G (n.1141-14A>G)
c.1144-14A>G (n.1144-14A>G)
c.846-14A>G (n.846-14A>G)
c.1144-17A>G (n.1144-17A>G)
c.*449-14A>G (n.*449-14A>G)
c.1228-17A>G (n.1228-17A>G)
c.1141-17A>G (n.1141-17A>G)
c.1246-14A>G (n.1246-14A>G)
c.1246-17A>G (n.1246-17A>G)
c.1162-14A>G (n.1162-14A>G)
c.1159-14A>G (n.1159-14A>G)
 gnomAD v4
Xg.20172888delCA2579569378RPS6KA3c.1228-15del (n.1228-15del)
c.1141-15del (n.1141-15del)
c.1144-15del (n.1144-15del)
c.846-15del (n.846-15del)
c.1144-18del (n.1144-18del)
c.*449-15del (n.*449-15del)
c.1228-18del (n.1228-18del)
c.1141-18del (n.1141-18del)
c.1246-15del (n.1246-15del)
c.1246-18del (n.1246-18del)
c.1162-15del (n.1162-15del)
c.1159-15del (n.1159-15del)
Xg.20172889T>CCA2693277430RPS6KA3c.1228-18A>G (n.1228-18A>G)
c.1141-18A>G (n.1141-18A>G)
c.1144-18A>G (n.1144-18A>G)
c.846-18A>G (n.846-18A>G)
c.1144-21A>G (n.1144-21A>G)
c.*449-18A>G (n.*449-18A>G)
c.1228-21A>G (n.1228-21A>G)
c.1141-21A>G (n.1141-21A>G)
c.1246-18A>G (n.1246-18A>G)
c.1246-21A>G (n.1246-21A>G)
c.1162-18A>G (n.1162-18A>G)
c.1159-18A>G (n.1159-18A>G)
 gnomAD v4
Xg.20172891G>ACA2418508477RPS6KA3c.1228-20C>T (n.1228-20C>T)
c.1141-20C>T (n.1141-20C>T)
c.1144-20C>T (n.1144-20C>T)
c.846-20C>T (n.846-20C>T)
c.1144-23C>T (n.1144-23C>T)
c.*449-20C>T (n.*449-20C>T)
c.1228-23C>T (n.1228-23C>T)
c.1141-23C>T (n.1141-23C>T)
c.1246-20C>T (n.1246-20C>T)
c.1246-23C>T (n.1246-23C>T)
c.1162-20C>T (n.1162-20C>T)
c.1159-20C>T (n.1159-20C>T)
 dbSNP
Xg.20172891G=CA2418508476RPS6KA3c.1228-20C= (n.1228-20C=)
c.1141-20C= (n.1141-20C=)
c.1144-20C= (n.1144-20C=)
c.846-20C= (n.846-20C=)
c.1144-23C= (n.1144-23C=)
c.*449-20C= (n.*449-20C=)
c.1228-23C= (n.1228-23C=)
c.1141-23C= (n.1141-23C=)
c.1246-20C= (n.1246-20C=)
c.1246-23C= (n.1246-23C=)
c.1162-20C= (n.1162-20C=)
c.1159-20C= (n.1159-20C=)
Xg.20172891G>TCA2693277431RPS6KA3c.1228-20C>A (n.1228-20C>A)
c.1141-20C>A (n.1141-20C>A)
c.1144-20C>A (n.1144-20C>A)
c.846-20C>A (n.846-20C>A)
c.1144-23C>A (n.1144-23C>A)
c.*449-20C>A (n.*449-20C>A)
c.1228-23C>A (n.1228-23C>A)
c.1141-23C>A (n.1141-23C>A)
c.1246-20C>A (n.1246-20C>A)
c.1246-23C>A (n.1246-23C>A)
c.1162-20C>A (n.1162-20C>A)
c.1159-20C>A (n.1159-20C>A)
 gnomAD v4
Xg.20172892G>TCA2693277432RPS6KA3c.1228-21C>A (n.1228-21C>A)
c.1141-21C>A (n.1141-21C>A)
c.1144-21C>A (n.1144-21C>A)
c.846-21C>A (n.846-21C>A)
c.1144-24C>A (n.1144-24C>A)
c.*449-21C>A (n.*449-21C>A)
c.1228-24C>A (n.1228-24C>A)
c.1141-24C>A (n.1141-24C>A)
c.1246-21C>A (n.1246-21C>A)
c.1246-24C>A (n.1246-24C>A)
c.1162-21C>A (n.1162-21C>A)
c.1159-21C>A (n.1159-21C>A)
 gnomAD v4
Xg.20172894G>ACA873786803RPS6KA3c.1228-23C>T (n.1228-23C>T)
c.1141-23C>T (n.1141-23C>T)
c.1144-23C>T (n.1144-23C>T)
c.846-23C>T (n.846-23C>T)
c.1144-26C>T (n.1144-26C>T)
c.*449-23C>T (n.*449-23C>T)
c.1228-26C>T (n.1228-26C>T)
c.1141-26C>T (n.1141-26C>T)
c.1246-23C>T (n.1246-23C>T)
c.1246-26C>T (n.1246-26C>T)
c.1162-23C>T (n.1162-23C>T)
c.1159-23C>T (n.1159-23C>T)
 dbSNP
Xg.20172894G=CA2418508478RPS6KA3c.1228-23C= (n.1228-23C=)
c.1141-23C= (n.1141-23C=)
c.1144-23C= (n.1144-23C=)
c.846-23C= (n.846-23C=)
c.1144-26C= (n.1144-26C=)
c.*449-23C= (n.*449-23C=)
c.1228-26C= (n.1228-26C=)
c.1141-26C= (n.1141-26C=)
c.1246-23C= (n.1246-23C=)
c.1246-26C= (n.1246-26C=)
c.1162-23C= (n.1162-23C=)
c.1159-23C= (n.1159-23C=)
Xg.20172894G>TCA2693277433RPS6KA3c.1228-23C>A (n.1228-23C>A)
c.1141-23C>A (n.1141-23C>A)
c.1144-23C>A (n.1144-23C>A)
c.846-23C>A (n.846-23C>A)
c.1144-26C>A (n.1144-26C>A)
c.*449-23C>A (n.*449-23C>A)
c.1228-26C>A (n.1228-26C>A)
c.1141-26C>A (n.1141-26C>A)
c.1246-23C>A (n.1246-23C>A)
c.1246-26C>A (n.1246-26C>A)
c.1162-23C>A (n.1162-23C>A)
c.1159-23C>A (n.1159-23C>A)
 gnomAD v4

Number of alleles fetched