Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.20172729A=CA2418508443RPS6KA3c.1353+17T= (n.1353+17T=)
c.1266+17T= (n.1266+17T=)
c.1269+17T= (n.1269+17T=)
c.971+17T= (n.971+17T=)
c.*574+17T= (n.*574+17T=)
n.119+17T=
c.1350+17T= (n.1350+17T=)
c.1263+17T= (n.1263+17T=)
c.1371+17T= (n.1371+17T=)
c.1368+17T= (n.1368+17T=)
c.1287+17T= (n.1287+17T=)
c.1284+17T= (n.1284+17T=)
Xg.20172729A>CCA2693277426RPS6KA3c.1353+17T>G (n.1353+17T>G)
c.1266+17T>G (n.1266+17T>G)
c.1269+17T>G (n.1269+17T>G)
c.971+17T>G (n.971+17T>G)
c.*574+17T>G (n.*574+17T>G)
n.119+17T>G
c.1350+17T>G (n.1350+17T>G)
c.1263+17T>G (n.1263+17T>G)
c.1371+17T>G (n.1371+17T>G)
c.1368+17T>G (n.1368+17T>G)
c.1287+17T>G (n.1287+17T>G)
c.1284+17T>G (n.1284+17T>G)
gnomAD v4
Xg.20172729A>GCA640849558RPS6KA3c.1353+17T>C (n.1353+17T>C)
c.1266+17T>C (n.1266+17T>C)
c.1269+17T>C (n.1269+17T>C)
c.971+17T>C (n.971+17T>C)
c.*574+17T>C (n.*574+17T>C)
n.119+17T>C
c.1350+17T>C (n.1350+17T>C)
c.1263+17T>C (n.1263+17T>C)
c.1371+17T>C (n.1371+17T>C)
c.1368+17T>C (n.1368+17T>C)
c.1287+17T>C (n.1287+17T>C)
c.1284+17T>C (n.1284+17T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.20172729A>TCA2579569340RPS6KA3c.1353+17T>A (n.1353+17T>A)
c.1266+17T>A (n.1266+17T>A)
c.1269+17T>A (n.1269+17T>A)
c.971+17T>A (n.971+17T>A)
c.*574+17T>A (n.*574+17T>A)
n.119+17T>A
c.1350+17T>A (n.1350+17T>A)
c.1263+17T>A (n.1263+17T>A)
c.1371+17T>A (n.1371+17T>A)
c.1368+17T>A (n.1368+17T>A)
c.1287+17T>A (n.1287+17T>A)
c.1284+17T>A (n.1284+17T>A)
gnomAD v4
Xg.20172732_20172733delinsTACA2418508444RPS6KA3c.1353+13_1353+14delinsTA (n.1353+13_1353+14delinsTA)
c.1266+13_1266+14delinsTA (n.1266+13_1266+14delinsTA)
c.1269+13_1269+14delinsTA (n.1269+13_1269+14delinsTA)
c.971+13_971+14delinsTA (n.971+13_971+14delinsTA)
c.*574+13_*574+14delinsTA (n.*574+13_*574+14delinsTA)
n.119+13_119+14delinsTA
c.1350+13_1350+14delinsTA (n.1350+13_1350+14delinsTA)
c.1263+13_1263+14delinsTA (n.1263+13_1263+14delinsTA)
c.1371+13_1371+14delinsTA (n.1371+13_1371+14delinsTA)
c.1368+13_1368+14delinsTA (n.1368+13_1368+14delinsTA)
c.1287+13_1287+14delinsTA (n.1287+13_1287+14delinsTA)
c.1284+13_1284+14delinsTA (n.1284+13_1284+14delinsTA)
Xg.20172740dupCA10366131RPS6KA3c.1353+13dup (n.1353+13dup)
c.1266+13dup (n.1266+13dup)
c.1269+13dup (n.1269+13dup)
c.971+13dup (n.971+13dup)
c.*574+13dup (n.*574+13dup)
n.119+13dup
c.1350+13dup (n.1350+13dup)
c.1263+13dup (n.1263+13dup)
c.1371+13dup (n.1371+13dup)
c.1368+13dup (n.1368+13dup)
c.1287+13dup (n.1287+13dup)
c.1284+13dup (n.1284+13dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.20172740delCA2418508445RPS6KA3c.1353+13del (n.1353+13del)
c.1266+13del (n.1266+13del)
c.1269+13del (n.1269+13del)
c.971+13del (n.971+13del)
c.*574+13del (n.*574+13del)
n.119+13del
c.1350+13del (n.1350+13del)
c.1263+13del (n.1263+13del)
c.1371+13del (n.1371+13del)
c.1368+13del (n.1368+13del)
c.1287+13del (n.1287+13del)
c.1284+13del (n.1284+13del)
dbSNP gnomAD v4
Xg.20172735A=CA2418508446RPS6KA3c.1353+11T= (n.1353+11T=)
c.1266+11T= (n.1266+11T=)
c.1269+11T= (n.1269+11T=)
c.971+11T= (n.971+11T=)
c.*574+11T= (n.*574+11T=)
n.119+11T=
c.1350+11T= (n.1350+11T=)
c.1263+11T= (n.1263+11T=)
c.1371+11T= (n.1371+11T=)
c.1368+11T= (n.1368+11T=)
c.1287+11T= (n.1287+11T=)
c.1284+11T= (n.1284+11T=)
Xg.20172735A>GCA10366132RPS6KA3c.1353+11T>C (n.1353+11T>C)
c.1266+11T>C (n.1266+11T>C)
c.1269+11T>C (n.1269+11T>C)
c.971+11T>C (n.971+11T>C)
c.*574+11T>C (n.*574+11T>C)
n.119+11T>C
c.1350+11T>C (n.1350+11T>C)
c.1263+11T>C (n.1263+11T>C)
c.1371+11T>C (n.1371+11T>C)
c.1368+11T>C (n.1368+11T>C)
c.1287+11T>C (n.1287+11T>C)
c.1284+11T>C (n.1284+11T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.20172739A=CA2418508447RPS6KA3c.1353+7T= (n.1353+7T=)
c.1266+7T= (n.1266+7T=)
c.1269+7T= (n.1269+7T=)
c.971+7T= (n.971+7T=)
c.*574+7T= (n.*574+7T=)
n.119+7T=
c.1350+7T= (n.1350+7T=)
c.1263+7T= (n.1263+7T=)
c.1371+7T= (n.1371+7T=)
c.1368+7T= (n.1368+7T=)
c.1287+7T= (n.1287+7T=)
c.1284+7T= (n.1284+7T=)
Xg.20172739A>GCA640849559RPS6KA3c.1353+7T>C (n.1353+7T>C)
c.1266+7T>C (n.1266+7T>C)
c.1269+7T>C (n.1269+7T>C)
c.971+7T>C (n.971+7T>C)
c.*574+7T>C (n.*574+7T>C)
n.119+7T>C
c.1350+7T>C (n.1350+7T>C)
c.1263+7T>C (n.1263+7T>C)
c.1371+7T>C (n.1371+7T>C)
c.1368+7T>C (n.1368+7T>C)
c.1287+7T>C (n.1287+7T>C)
c.1284+7T>C (n.1284+7T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.20172740A=CA2418508448RPS6KA3c.1353+6T= (n.1353+6T=)
c.1266+6T= (n.1266+6T=)
c.1269+6T= (n.1269+6T=)
c.971+6T= (n.971+6T=)
c.*574+6T= (n.*574+6T=)
n.119+6T=
c.1350+6T= (n.1350+6T=)
c.1263+6T= (n.1263+6T=)
c.1371+6T= (n.1371+6T=)
c.1368+6T= (n.1368+6T=)
c.1287+6T= (n.1287+6T=)
c.1284+6T= (n.1284+6T=)
Xg.20172740A>TCA327474691RPS6KA3c.1353+6T>A (n.1353+6T>A)
c.1266+6T>A (n.1266+6T>A)
c.1269+6T>A (n.1269+6T>A)
c.971+6T>A (n.971+6T>A)
c.*574+6T>A (n.*574+6T>A)
n.119+6T>A
c.1350+6T>A (n.1350+6T>A)
c.1263+6T>A (n.1263+6T>A)
c.1371+6T>A (n.1371+6T>A)
c.1368+6T>A (n.1368+6T>A)
c.1287+6T>A (n.1287+6T>A)
c.1284+6T>A (n.1284+6T>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.20172741T>ACA10366133RPS6KA3c.1353+5A>T (n.1353+5A>T)
c.1266+5A>T (n.1266+5A>T)
c.1269+5A>T (n.1269+5A>T)
c.971+5A>T (n.971+5A>T)
c.*574+5A>T (n.*574+5A>T)
n.119+5A>T
c.1350+5A>T (n.1350+5A>T)
c.1263+5A>T (n.1263+5A>T)
c.1371+5A>T (n.1371+5A>T)
c.1368+5A>T (n.1368+5A>T)
c.1287+5A>T (n.1287+5A>T)
c.1284+5A>T (n.1284+5A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.20172741T=CA2418508449RPS6KA3c.1353+5A= (n.1353+5A=)
c.1266+5A= (n.1266+5A=)
c.1269+5A= (n.1269+5A=)
c.971+5A= (n.971+5A=)
c.*574+5A= (n.*574+5A=)
n.119+5A=
c.1350+5A= (n.1350+5A=)
c.1263+5A= (n.1263+5A=)
c.1371+5A= (n.1371+5A=)
c.1368+5A= (n.1368+5A=)
c.1287+5A= (n.1287+5A=)
c.1284+5A= (n.1284+5A=)
Xg.20172742T>GCA645601248RPS6KA3c.1353+4A>C (n.1353+4A>C)
c.1266+4A>C (n.1266+4A>C)
c.1269+4A>C (n.1269+4A>C)
c.971+4A>C (n.971+4A>C)
c.*574+4A>C (n.*574+4A>C)
n.119+4A>C
c.1350+4A>C (n.1350+4A>C)
c.1263+4A>C (n.1263+4A>C)
c.1371+4A>C (n.1371+4A>C)
c.1368+4A>C (n.1368+4A>C)
c.1287+4A>C (n.1287+4A>C)
c.1284+4A>C (n.1284+4A>C)
COSMIC
Xg.20172744A>CCA412515975RPS6KA3c.1353+2T>G (n.1353+2T>G)
c.1266+2T>G (n.1266+2T>G)
c.1269+2T>G (n.1269+2T>G)
c.971+2T>G (n.971+2T>G)
c.*574+2T>G (n.*574+2T>G)
n.119+2T>G
c.1350+2T>G (n.1350+2T>G)
c.1263+2T>G (n.1263+2T>G)
c.1371+2T>G (n.1371+2T>G)
c.1368+2T>G (n.1368+2T>G)
c.1287+2T>G (n.1287+2T>G)
c.1284+2T>G (n.1284+2T>G)
Xg.20172744A>GCA412515977RPS6KA3c.1353+2T>C (n.1353+2T>C)
c.1266+2T>C (n.1266+2T>C)
c.1269+2T>C (n.1269+2T>C)
c.971+2T>C (n.971+2T>C)
c.*574+2T>C (n.*574+2T>C)
n.119+2T>C
c.1350+2T>C (n.1350+2T>C)
c.1263+2T>C (n.1263+2T>C)
c.1371+2T>C (n.1371+2T>C)
c.1368+2T>C (n.1368+2T>C)
c.1287+2T>C (n.1287+2T>C)
c.1284+2T>C (n.1284+2T>C)
Xg.20172744A>TCA412515978RPS6KA3c.1353+2T>A (n.1353+2T>A)
c.1266+2T>A (n.1266+2T>A)
c.1269+2T>A (n.1269+2T>A)
c.971+2T>A (n.971+2T>A)
c.*574+2T>A (n.*574+2T>A)
n.119+2T>A
c.1350+2T>A (n.1350+2T>A)
c.1263+2T>A (n.1263+2T>A)
c.1371+2T>A (n.1371+2T>A)
c.1368+2T>A (n.1368+2T>A)
c.1287+2T>A (n.1287+2T>A)
c.1284+2T>A (n.1284+2T>A)
Xg.20172745C>ACA412515981RPS6KA3c.1353+1G>T (n.1353+1G>T)
c.1266+1G>T (n.1266+1G>T)
c.1269+1G>T (n.1269+1G>T)
c.971+1G>T (n.971+1G>T)
c.*574+1G>T (n.*574+1G>T)
n.119+1G>T
c.1350+1G>T (n.1350+1G>T)
c.1263+1G>T (n.1263+1G>T)
c.1371+1G>T (n.1371+1G>T)
c.1368+1G>T (n.1368+1G>T)
c.1287+1G>T (n.1287+1G>T)
c.1284+1G>T (n.1284+1G>T)
Xg.20172745C>GCA412515982RPS6KA3c.1353+1G>C (n.1353+1G>C)
c.1266+1G>C (n.1266+1G>C)
c.1269+1G>C (n.1269+1G>C)
c.971+1G>C (n.971+1G>C)
c.*574+1G>C (n.*574+1G>C)
n.119+1G>C
c.1350+1G>C (n.1350+1G>C)
c.1263+1G>C (n.1263+1G>C)
c.1371+1G>C (n.1371+1G>C)
c.1368+1G>C (n.1368+1G>C)
c.1287+1G>C (n.1287+1G>C)
c.1284+1G>C (n.1284+1G>C)
Xg.20172745C>TCA412515984RPS6KA3c.1353+1G>A (n.1353+1G>A)
c.1266+1G>A (n.1266+1G>A)
c.1269+1G>A (n.1269+1G>A)
c.971+1G>A (n.971+1G>A)
c.*574+1G>A (n.*574+1G>A)
n.119+1G>A
c.1350+1G>A (n.1350+1G>A)
c.1263+1G>A (n.1263+1G>A)
c.1371+1G>A (n.1371+1G>A)
c.1368+1G>A (n.1368+1G>A)
c.1287+1G>A (n.1287+1G>A)
c.1284+1G>A (n.1284+1G>A)
Xg.20172746C>ACA412515988RPS6KA3c.1353G>T (p.Lys451Asn)
c.1266G>T (p.Lys422Asn)
c.1269G>T (p.Lys423Asn)
c.971G>T (n.971G>T)
c.*574G>T (n.*574G>T)
n.119G>T
c.1350G>T (p.Lys450Asn)
c.1263G>T (p.Lys421Asn)
c.1371G>T (p.Lys457Asn)
c.1368G>T (p.Lys456Asn)
c.1287G>T (p.Lys429Asn)
c.1284G>T (p.Lys428Asn)
Xg.20172746C>GCA412515986RPS6KA3c.1353G>C (p.Lys451Asn)
c.1266G>C (p.Lys422Asn)
c.1269G>C (p.Lys423Asn)
c.971G>C (n.971G>C)
c.*574G>C (n.*574G>C)
n.119G>C
c.1350G>C (p.Lys450Asn)
c.1263G>C (p.Lys421Asn)
c.1371G>C (p.Lys457Asn)
c.1368G>C (p.Lys456Asn)
c.1287G>C (p.Lys429Asn)
c.1284G>C (p.Lys428Asn)
Xg.20172746C>TCA515614042RPS6KA3c.1353G>A (p.Lys451=)
c.1266G>A (p.Lys422=)
c.1269G>A (p.Lys423=)
c.971G>A (n.971G>A)
c.*574G>A (n.*574G>A)
n.119G>A
c.1350G>A (p.Lys450=)
c.1263G>A (p.Lys421=)
c.1371G>A (p.Lys457=)
c.1368G>A (p.Lys456=)
c.1287G>A (p.Lys429=)
c.1284G>A (p.Lys428=)
Xg.20172747T>ACA412515991RPS6KA3c.1352A>T (p.Lys451Met)
c.1265A>T (p.Lys422Met)
c.1268A>T (p.Lys423Met)
c.970A>T (n.970A>T)
c.*573A>T (n.*573A>T)
n.118A>T
c.1349A>T (p.Lys450Met)
c.1262A>T (p.Lys421Met)
c.1370A>T (p.Lys457Met)
c.1367A>T (p.Lys456Met)
c.1286A>T (p.Lys429Met)
c.1283A>T (p.Lys428Met)
Xg.20172747T>CCA412515994RPS6KA3c.1352A>G (p.Lys451Arg)
c.1265A>G (p.Lys422Arg)
c.1268A>G (p.Lys423Arg)
c.970A>G (n.970A>G)
c.*573A>G (n.*573A>G)
n.118A>G
c.1349A>G (p.Lys450Arg)
c.1262A>G (p.Lys421Arg)
c.1370A>G (p.Lys457Arg)
c.1367A>G (p.Lys456Arg)
c.1286A>G (p.Lys429Arg)
c.1283A>G (p.Lys428Arg)
Xg.20172747T>GCA412515993RPS6KA3c.1352A>C (p.Lys451Thr)
c.1265A>C (p.Lys422Thr)
c.1268A>C (p.Lys423Thr)
c.970A>C (n.970A>C)
c.*573A>C (n.*573A>C)
n.118A>C
c.1349A>C (p.Lys450Thr)
c.1262A>C (p.Lys421Thr)
c.1370A>C (p.Lys457Thr)
c.1367A>C (p.Lys456Thr)
c.1286A>C (p.Lys429Thr)
c.1283A>C (p.Lys428Thr)
Xg.20172748T>ACA412515996RPS6KA3c.1351A>T (p.Lys451Ter)
c.1264A>T (p.Lys422Ter)
c.1267A>T (p.Lys423Ter)
c.969A>T (n.969A>T)
c.*572A>T (n.*572A>T)
n.117A>T
c.1348A>T (p.Lys450Ter)
c.1261A>T (p.Lys421Ter)
c.1369A>T (p.Lys457Ter)
c.1366A>T (p.Lys456Ter)
c.1285A>T (p.Lys429Ter)
c.1282A>T (p.Lys428Ter)
Xg.20172748T>CCA412515998RPS6KA3c.1351A>G (p.Lys451Glu)
c.1264A>G (p.Lys422Glu)
c.1267A>G (p.Lys423Glu)
c.969A>G (n.969A>G)
c.*572A>G (n.*572A>G)
n.117A>G
c.1348A>G (p.Lys450Glu)
c.1261A>G (p.Lys421Glu)
c.1369A>G (p.Lys457Glu)
c.1366A>G (p.Lys456Glu)
c.1285A>G (p.Lys429Glu)
c.1282A>G (p.Lys428Glu)
Xg.20172748T>GCA412515999RPS6KA3c.1351A>C (p.Lys451Gln)
c.1264A>C (p.Lys422Gln)
c.1267A>C (p.Lys423Gln)
c.969A>C (n.969A>C)
c.*572A>C (n.*572A>C)
n.117A>C
c.1348A>C (p.Lys450Gln)
c.1261A>C (p.Lys421Gln)
c.1369A>C (p.Lys457Gln)
c.1366A>C (p.Lys456Gln)
c.1285A>C (p.Lys429Gln)
c.1282A>C (p.Lys428Gln)
Xg.20172749C>ACA515614043RPS6KA3c.1350G>T (p.Val450=)
c.1263G>T (p.Val421=)
c.1266G>T (p.Val422=)
c.968G>T (n.968G>T)
c.*571G>T (n.*571G>T)
n.116G>T
c.1347G>T (p.Val449=)
c.1260G>T (p.Val420=)
c.1368G>T (p.Val456=)
c.1365G>T (p.Val455=)
c.1284G>T (p.Val428=)
c.1281G>T (p.Val427=)
Xg.20172749C>GCA515614044RPS6KA3c.1350G>C (p.Val450=)
c.1263G>C (p.Val421=)
c.1266G>C (p.Val422=)
c.968G>C (n.968G>C)
c.*571G>C (n.*571G>C)
n.116G>C
c.1347G>C (p.Val449=)
c.1260G>C (p.Val420=)
c.1368G>C (p.Val456=)
c.1365G>C (p.Val455=)
c.1284G>C (p.Val428=)
c.1281G>C (p.Val427=)
Xg.20172749C>TCA515614045RPS6KA3c.1350G>A (p.Val450=)
c.1263G>A (p.Val421=)
c.1266G>A (p.Val422=)
c.968G>A (n.968G>A)
c.*571G>A (n.*571G>A)
n.116G>A
c.1347G>A (p.Val449=)
c.1260G>A (p.Val420=)
c.1368G>A (p.Val456=)
c.1365G>A (p.Val455=)
c.1284G>A (p.Val428=)
c.1281G>A (p.Val427=)
Xg.20172750A>CCA412516000RPS6KA3c.1349T>G (p.Val450Gly)
c.1262T>G (p.Val421Gly)
c.1265T>G (p.Val422Gly)
c.967T>G (n.967T>G)
c.*570T>G (n.*570T>G)
n.115T>G
c.1346T>G (p.Val449Gly)
c.1259T>G (p.Val420Gly)
c.1367T>G (p.Val456Gly)
c.1364T>G (p.Val455Gly)
c.1283T>G (p.Val428Gly)
c.1280T>G (p.Val427Gly)
Xg.20172750A>GCA412516001RPS6KA3c.1349T>C (p.Val450Ala)
c.1262T>C (p.Val421Ala)
c.1265T>C (p.Val422Ala)
c.967T>C (n.967T>C)
c.*570T>C (n.*570T>C)
n.115T>C
c.1346T>C (p.Val449Ala)
c.1259T>C (p.Val420Ala)
c.1367T>C (p.Val456Ala)
c.1364T>C (p.Val455Ala)
c.1283T>C (p.Val428Ala)
c.1280T>C (p.Val427Ala)
Xg.20172750A>TCA412516002RPS6KA3c.1349T>A (p.Val450Glu)
c.1262T>A (p.Val421Glu)
c.1265T>A (p.Val422Glu)
c.967T>A (n.967T>A)
c.*570T>A (n.*570T>A)
n.115T>A
c.1346T>A (p.Val449Glu)
c.1259T>A (p.Val420Glu)
c.1367T>A (p.Val456Glu)
c.1364T>A (p.Val455Glu)
c.1283T>A (p.Val428Glu)
c.1280T>A (p.Val427Glu)
Xg.20172751C>ACA412516005RPS6KA3c.1348G>T (p.Val450Leu)
c.1261G>T (p.Val421Leu)
c.1264G>T (p.Val422Leu)
c.966G>T (n.966G>T)
c.*569G>T (n.*569G>T)
n.114G>T
c.1345G>T (p.Val449Leu)
c.1258G>T (p.Val420Leu)
c.1366G>T (p.Val456Leu)
c.1363G>T (p.Val455Leu)
c.1282G>T (p.Val428Leu)
c.1279G>T (p.Val427Leu)
Xg.20172751C>GCA412516007RPS6KA3c.1348G>C (p.Val450Leu)
c.1261G>C (p.Val421Leu)
c.1264G>C (p.Val422Leu)
c.966G>C (n.966G>C)
c.*569G>C (n.*569G>C)
n.114G>C
c.1345G>C (p.Val449Leu)
c.1258G>C (p.Val420Leu)
c.1366G>C (p.Val456Leu)
c.1363G>C (p.Val455Leu)
c.1282G>C (p.Val428Leu)
c.1279G>C (p.Val427Leu)
Xg.20172751C>TCA412516009RPS6KA3c.1348G>A (p.Val450Met)
c.1261G>A (p.Val421Met)
c.1264G>A (p.Val422Met)
c.966G>A (n.966G>A)
c.*569G>A (n.*569G>A)
n.114G>A
c.1345G>A (p.Val449Met)
c.1258G>A (p.Val420Met)
c.1366G>A (p.Val456Met)
c.1363G>A (p.Val455Met)
c.1282G>A (p.Val428Met)
c.1279G>A (p.Val427Met)
Xg.20172752T>ACA515614046RPS6KA3c.1347A>T (p.Ala449=)
c.1260A>T (p.Ala420=)
c.1263A>T (p.Ala421=)
c.965A>T (n.965A>T)
c.*568A>T (n.*568A>T)
n.113A>T
c.1344A>T (p.Ala448=)
c.1257A>T (p.Ala419=)
c.1365A>T (p.Ala455=)
c.1362A>T (p.Ala454=)
c.1281A>T (p.Ala427=)
c.1278A>T (p.Ala426=)
Xg.20172752T>CCA515614047RPS6KA3c.1347A>G (p.Ala449=)
c.1260A>G (p.Ala420=)
c.1263A>G (p.Ala421=)
c.965A>G (n.965A>G)
c.*568A>G (n.*568A>G)
n.113A>G
c.1344A>G (p.Ala448=)
c.1257A>G (p.Ala419=)
c.1365A>G (p.Ala455=)
c.1362A>G (p.Ala454=)
c.1281A>G (p.Ala427=)
c.1278A>G (p.Ala426=)
Xg.20172752T>GCA515614048RPS6KA3c.1347A>C (p.Ala449=)
c.1260A>C (p.Ala420=)
c.1263A>C (p.Ala421=)
c.965A>C (n.965A>C)
c.*568A>C (n.*568A>C)
n.113A>C
c.1344A>C (p.Ala448=)
c.1257A>C (p.Ala419=)
c.1365A>C (p.Ala455=)
c.1362A>C (p.Ala454=)
c.1281A>C (p.Ala427=)
c.1278A>C (p.Ala426=)
Xg.20172753G>ACA412516011RPS6KA3c.1346C>T (p.Ala449Val)
c.1259C>T (p.Ala420Val)
c.1262C>T (p.Ala421Val)
c.964C>T (n.964C>T)
c.*567C>T (n.*567C>T)
n.112C>T
c.1343C>T (p.Ala448Val)
c.1256C>T (p.Ala419Val)
c.1364C>T (p.Ala455Val)
c.1361C>T (p.Ala454Val)
c.1280C>T (p.Ala427Val)
c.1277C>T (p.Ala426Val)
Xg.20172753G>CCA412516012RPS6KA3c.1346C>G (p.Ala449Gly)
c.1259C>G (p.Ala420Gly)
c.1262C>G (p.Ala421Gly)
c.964C>G (n.964C>G)
c.*567C>G (n.*567C>G)
n.112C>G
c.1343C>G (p.Ala448Gly)
c.1256C>G (p.Ala419Gly)
c.1364C>G (p.Ala455Gly)
c.1361C>G (p.Ala454Gly)
c.1280C>G (p.Ala427Gly)
c.1277C>G (p.Ala426Gly)
Xg.20172753G>TCA412516013RPS6KA3c.1346C>A (p.Ala449Glu)
c.1259C>A (p.Ala420Glu)
c.1262C>A (p.Ala421Glu)
c.964C>A (n.964C>A)
c.*567C>A (n.*567C>A)
n.112C>A
c.1343C>A (p.Ala448Glu)
c.1256C>A (p.Ala419Glu)
c.1364C>A (p.Ala455Glu)
c.1361C>A (p.Ala454Glu)
c.1280C>A (p.Ala427Glu)
c.1277C>A (p.Ala426Glu)
gnomAD v4
Xg.20172754C>ACA412516018RPS6KA3c.1345G>T (p.Ala449Ser)
c.1258G>T (p.Ala420Ser)
c.1261G>T (p.Ala421Ser)
c.963G>T (n.963G>T)
c.*566G>T (n.*566G>T)
n.111G>T
c.1342G>T (p.Ala448Ser)
c.1255G>T (p.Ala419Ser)
c.1363G>T (p.Ala455Ser)
c.1360G>T (p.Ala454Ser)
c.1279G>T (p.Ala427Ser)
c.1276G>T (p.Ala426Ser)
Xg.20172754C>GCA412516017RPS6KA3c.1345G>C (p.Ala449Pro)
c.1258G>C (p.Ala420Pro)
c.1261G>C (p.Ala421Pro)
c.963G>C (n.963G>C)
c.*566G>C (n.*566G>C)
n.111G>C
c.1342G>C (p.Ala448Pro)
c.1255G>C (p.Ala419Pro)
c.1363G>C (p.Ala455Pro)
c.1360G>C (p.Ala454Pro)
c.1279G>C (p.Ala427Pro)
c.1276G>C (p.Ala426Pro)
Xg.20172754C>TCA412516015RPS6KA3c.1345G>A (p.Ala449Thr)
c.1258G>A (p.Ala420Thr)
c.1261G>A (p.Ala421Thr)
c.963G>A (n.963G>A)
c.*566G>A (n.*566G>A)
n.111G>A
c.1342G>A (p.Ala448Thr)
c.1255G>A (p.Ala419Thr)
c.1363G>A (p.Ala455Thr)
c.1360G>A (p.Ala454Thr)
c.1279G>A (p.Ala427Thr)
c.1276G>A (p.Ala426Thr)
Xg.20172755A=CA2418508450RPS6KA3c.1344T= (p.Phe448=)
c.1257T= (p.Phe419=)
c.1260T= (p.Phe420=)
c.962T= (n.962T=)
c.*565T= (n.*565T=)
n.110T=
c.1341T= (p.Phe447=)
c.1254T= (p.Phe418=)
c.1362T= (p.Phe454=)
c.1359T= (p.Phe453=)
c.1278T= (p.Phe426=)
c.1275T= (p.Phe425=)
Xg.20172755A>CCA412516021RPS6KA3c.1344T>G (p.Phe448Leu)
c.1257T>G (p.Phe419Leu)
c.1260T>G (p.Phe420Leu)
c.962T>G (n.962T>G)
c.*565T>G (n.*565T>G)
n.110T>G
c.1341T>G (p.Phe447Leu)
c.1254T>G (p.Phe418Leu)
c.1362T>G (p.Phe454Leu)
c.1359T>G (p.Phe453Leu)
c.1278T>G (p.Phe426Leu)
c.1275T>G (p.Phe425Leu)
dbSNP
Xg.20172755A>GCA515614049RPS6KA3c.1344T>C (p.Phe448=)
c.1257T>C (p.Phe419=)
c.1260T>C (p.Phe420=)
c.962T>C (n.962T>C)
c.*565T>C (n.*565T>C)
n.110T>C
c.1341T>C (p.Phe447=)
c.1254T>C (p.Phe418=)
c.1362T>C (p.Phe454=)
c.1359T>C (p.Phe453=)
c.1278T>C (p.Phe426=)
c.1275T>C (p.Phe425=)
Xg.20172755A>TCA412516028RPS6KA3c.1344T>A (p.Phe448Leu)
c.1257T>A (p.Phe419Leu)
c.1260T>A (p.Phe420Leu)
c.962T>A (n.962T>A)
c.*565T>A (n.*565T>A)
n.110T>A
c.1341T>A (p.Phe447Leu)
c.1254T>A (p.Phe418Leu)
c.1362T>A (p.Phe454Leu)
c.1359T>A (p.Phe453Leu)
c.1278T>A (p.Phe426Leu)
c.1275T>A (p.Phe425Leu)
gnomAD v4
Xg.20172757delCA2579569352RPS6KA3c.1344del (p.Phe448LeufsTer3)
c.1257del (p.Phe419LeufsTer3)
c.1260del (p.Phe420LeufsTer3)
c.962del (n.962del)
c.*565del (n.*565del)
n.110del
c.1341del (p.Phe447LeufsTer3)
c.1254del (p.Phe418LeufsTer3)
c.1362del (p.Phe454LeufsTer3)
c.1359del (p.Phe453LeufsTer3)
c.1278del (p.Phe426LeufsTer3)
c.1275del (p.Phe425LeufsTer3)
Xg.20172756A>CCA412516031RPS6KA3c.1343T>G (p.Phe448Cys)
c.1256T>G (p.Phe419Cys)
c.1259T>G (p.Phe420Cys)
c.961T>G (n.961T>G)
c.*564T>G (n.*564T>G)
n.109T>G
c.1340T>G (p.Phe447Cys)
c.1253T>G (p.Phe418Cys)
c.1361T>G (p.Phe454Cys)
c.1358T>G (p.Phe453Cys)
c.1277T>G (p.Phe426Cys)
c.1274T>G (p.Phe425Cys)
Xg.20172756A>GCA412516033RPS6KA3c.1343T>C (p.Phe448Ser)
c.1256T>C (p.Phe419Ser)
c.1259T>C (p.Phe420Ser)
c.961T>C (n.961T>C)
c.*564T>C (n.*564T>C)
n.109T>C
c.1340T>C (p.Phe447Ser)
c.1253T>C (p.Phe418Ser)
c.1361T>C (p.Phe454Ser)
c.1358T>C (p.Phe453Ser)
c.1277T>C (p.Phe426Ser)
c.1274T>C (p.Phe425Ser)
Xg.20172756A>TCA412516035RPS6KA3c.1343T>A (p.Phe448Tyr)
c.1256T>A (p.Phe419Tyr)
c.1259T>A (p.Phe420Tyr)
c.961T>A (n.961T>A)
c.*564T>A (n.*564T>A)
n.109T>A
c.1340T>A (p.Phe447Tyr)
c.1253T>A (p.Phe418Tyr)
c.1361T>A (p.Phe454Tyr)
c.1358T>A (p.Phe453Tyr)
c.1277T>A (p.Phe426Tyr)
c.1274T>A (p.Phe425Tyr)
Xg.20172757A>CCA412516036RPS6KA3c.1342T>G (p.Phe448Val)
c.1255T>G (p.Phe419Val)
c.1258T>G (p.Phe420Val)
c.960T>G (n.960T>G)
c.*563T>G (n.*563T>G)
n.108T>G
c.1339T>G (p.Phe447Val)
c.1252T>G (p.Phe418Val)
c.1360T>G (p.Phe454Val)
c.1357T>G (p.Phe453Val)
c.1276T>G (p.Phe426Val)
c.1273T>G (p.Phe425Val)
Xg.20172757A>GCA412516037RPS6KA3c.1342T>C (p.Phe448Leu)
c.1255T>C (p.Phe419Leu)
c.1258T>C (p.Phe420Leu)
c.960T>C (n.960T>C)
c.*563T>C (n.*563T>C)
n.108T>C
c.1339T>C (p.Phe447Leu)
c.1252T>C (p.Phe418Leu)
c.1360T>C (p.Phe454Leu)
c.1357T>C (p.Phe453Leu)
c.1276T>C (p.Phe426Leu)
c.1273T>C (p.Phe425Leu)
Xg.20172757A>TCA412516038RPS6KA3c.1342T>A (p.Phe448Ile)
c.1255T>A (p.Phe419Ile)
c.1258T>A (p.Phe420Ile)
c.960T>A (n.960T>A)
c.*563T>A (n.*563T>A)
n.108T>A
c.1339T>A (p.Phe447Ile)
c.1252T>A (p.Phe418Ile)
c.1360T>A (p.Phe454Ile)
c.1357T>A (p.Phe453Ile)
c.1276T>A (p.Phe426Ile)
c.1273T>A (p.Phe425Ile)
Xg.20172758C>ACA412516040RPS6KA3c.1341G>T (p.Glu447Asp)
c.1254G>T (p.Glu418Asp)
c.1257G>T (p.Glu419Asp)
c.959G>T (n.959G>T)
c.*562G>T (n.*562G>T)
n.107G>T
c.1338G>T (p.Glu446Asp)
c.1251G>T (p.Glu417Asp)
c.1359G>T (p.Glu453Asp)
c.1356G>T (p.Glu452Asp)
c.1275G>T (p.Glu425Asp)
c.1272G>T (p.Glu424Asp)
Xg.20172758C>GCA412516042RPS6KA3c.1341G>C (p.Glu447Asp)
c.1254G>C (p.Glu418Asp)
c.1257G>C (p.Glu419Asp)
c.959G>C (n.959G>C)
c.*562G>C (n.*562G>C)
n.107G>C
c.1338G>C (p.Glu446Asp)
c.1251G>C (p.Glu417Asp)
c.1359G>C (p.Glu453Asp)
c.1356G>C (p.Glu452Asp)
c.1275G>C (p.Glu425Asp)
c.1272G>C (p.Glu424Asp)
Xg.20172758C>TCA515614050RPS6KA3c.1341G>A (p.Glu447=)
c.1254G>A (p.Glu418=)
c.1257G>A (p.Glu419=)
c.959G>A (n.959G>A)
c.*562G>A (n.*562G>A)
n.107G>A
c.1338G>A (p.Glu446=)
c.1251G>A (p.Glu417=)
c.1359G>A (p.Glu453=)
c.1356G>A (p.Glu452=)
c.1275G>A (p.Glu425=)
c.1272G>A (p.Glu424=)
dbSNP gnomAD v4
Xg.20172759T>ACA412516044RPS6KA3c.1340A>T (p.Glu447Val)
c.1253A>T (p.Glu418Val)
c.1256A>T (p.Glu419Val)
c.958A>T (n.958A>T)
c.*561A>T (n.*561A>T)
n.106A>T
c.1337A>T (p.Glu446Val)
c.1250A>T (p.Glu417Val)
c.1358A>T (p.Glu453Val)
c.1355A>T (p.Glu452Val)
c.1274A>T (p.Glu425Val)
c.1271A>T (p.Glu424Val)
Xg.20172759T>CCA412516045RPS6KA3c.1340A>G (p.Glu447Gly)
c.1253A>G (p.Glu418Gly)
c.1256A>G (p.Glu419Gly)
c.958A>G (n.958A>G)
c.*561A>G (n.*561A>G)
n.106A>G
c.1337A>G (p.Glu446Gly)
c.1250A>G (p.Glu417Gly)
c.1358A>G (p.Glu453Gly)
c.1355A>G (p.Glu452Gly)
c.1274A>G (p.Glu425Gly)
c.1271A>G (p.Glu424Gly)
COSMIC
Xg.20172759T>GCA412516047RPS6KA3c.1340A>C (p.Glu447Ala)
c.1253A>C (p.Glu418Ala)
c.1256A>C (p.Glu419Ala)
c.958A>C (n.958A>C)
c.*561A>C (n.*561A>C)
n.106A>C
c.1337A>C (p.Glu446Ala)
c.1250A>C (p.Glu417Ala)
c.1358A>C (p.Glu453Ala)
c.1355A>C (p.Glu452Ala)
c.1274A>C (p.Glu425Ala)
c.1271A>C (p.Glu424Ala)
Xg.20172760C>ACA412516049RPS6KA3c.1339G>T (p.Glu447Ter)
c.1252G>T (p.Glu418Ter)
c.1255G>T (p.Glu419Ter)
c.957G>T (n.957G>T)
c.*560G>T (n.*560G>T)
n.105G>T
c.1336G>T (p.Glu446Ter)
c.1249G>T (p.Glu417Ter)
c.1357G>T (p.Glu453Ter)
c.1354G>T (p.Glu452Ter)
c.1273G>T (p.Glu425Ter)
c.1270G>T (p.Glu424Ter)
Xg.20172760C>GCA412516050RPS6KA3c.1339G>C (p.Glu447Gln)
c.1252G>C (p.Glu418Gln)
c.1255G>C (p.Glu419Gln)
c.957G>C (n.957G>C)
c.*560G>C (n.*560G>C)
n.105G>C
c.1336G>C (p.Glu446Gln)
c.1249G>C (p.Glu417Gln)
c.1357G>C (p.Glu453Gln)
c.1354G>C (p.Glu452Gln)
c.1273G>C (p.Glu425Gln)
c.1270G>C (p.Glu424Gln)
Xg.20172760C>TCA412516048RPS6KA3c.1339G>A (p.Glu447Lys)
c.1252G>A (p.Glu418Lys)
c.1255G>A (p.Glu419Lys)
c.957G>A (n.957G>A)
c.*560G>A (n.*560G>A)
n.105G>A
c.1336G>A (p.Glu446Lys)
c.1249G>A (p.Glu417Lys)
c.1357G>A (p.Glu453Lys)
c.1354G>A (p.Glu452Lys)
c.1273G>A (p.Glu425Lys)
c.1270G>A (p.Glu424Lys)
Xg.20172761C>ACA412516051RPS6KA3c.1338G>T (p.Met446Ile)
c.1251G>T (p.Met417Ile)
c.1254G>T (p.Met418Ile)
c.956G>T (n.956G>T)
c.*559G>T (n.*559G>T)
n.104G>T
c.1335G>T (p.Met445Ile)
c.1248G>T (p.Met416Ile)
c.1356G>T (p.Met452Ile)
c.1353G>T (p.Met451Ile)
c.1272G>T (p.Met424Ile)
c.1269G>T (p.Met423Ile)
Xg.20172761C>GCA412516052RPS6KA3c.1338G>C (p.Met446Ile)
c.1251G>C (p.Met417Ile)
c.1254G>C (p.Met418Ile)
c.956G>C (n.956G>C)
c.*559G>C (n.*559G>C)
n.104G>C
c.1335G>C (p.Met445Ile)
c.1248G>C (p.Met416Ile)
c.1356G>C (p.Met452Ile)
c.1353G>C (p.Met451Ile)
c.1272G>C (p.Met424Ile)
c.1269G>C (p.Met423Ile)
Xg.20172761C>TCA412516054RPS6KA3c.1338G>A (p.Met446Ile)
c.1251G>A (p.Met417Ile)
c.1254G>A (p.Met418Ile)
c.956G>A (n.956G>A)
c.*559G>A (n.*559G>A)
n.104G>A
c.1335G>A (p.Met445Ile)
c.1248G>A (p.Met416Ile)
c.1356G>A (p.Met452Ile)
c.1353G>A (p.Met451Ile)
c.1272G>A (p.Met424Ile)
c.1269G>A (p.Met423Ile)
gnomAD v4
Xg.20172762A>CCA412516057RPS6KA3c.1337T>G (p.Met446Arg)
c.1250T>G (p.Met417Arg)
c.1253T>G (p.Met418Arg)
c.955T>G (n.955T>G)
c.*558T>G (n.*558T>G)
n.103T>G
c.1334T>G (p.Met445Arg)
c.1247T>G (p.Met416Arg)
c.1355T>G (p.Met452Arg)
c.1352T>G (p.Met451Arg)
c.1271T>G (p.Met424Arg)
c.1268T>G (p.Met423Arg)
Xg.20172762A>GCA412516059RPS6KA3c.1337T>C (p.Met446Thr)
c.1250T>C (p.Met417Thr)
c.1253T>C (p.Met418Thr)
c.955T>C (n.955T>C)
c.*558T>C (n.*558T>C)
n.103T>C
c.1334T>C (p.Met445Thr)
c.1247T>C (p.Met416Thr)
c.1355T>C (p.Met452Thr)
c.1352T>C (p.Met451Thr)
c.1271T>C (p.Met424Thr)
c.1268T>C (p.Met423Thr)
Xg.20172762A>TCA412516060RPS6KA3c.1337T>A (p.Met446Lys)
c.1250T>A (p.Met417Lys)
c.1253T>A (p.Met418Lys)
c.955T>A (n.955T>A)
c.*558T>A (n.*558T>A)
n.103T>A
c.1334T>A (p.Met445Lys)
c.1247T>A (p.Met416Lys)
c.1355T>A (p.Met452Lys)
c.1352T>A (p.Met451Lys)
c.1271T>A (p.Met424Lys)
c.1268T>A (p.Met423Lys)
Xg.20172763T>ACA412516061RPS6KA3c.1336A>T (p.Met446Leu)
c.1249A>T (p.Met417Leu)
c.1252A>T (p.Met418Leu)
c.954A>T (n.954A>T)
c.*557A>T (n.*557A>T)
n.102A>T
c.1333A>T (p.Met445Leu)
c.1246A>T (p.Met416Leu)
c.1354A>T (p.Met452Leu)
c.1351A>T (p.Met451Leu)
c.1270A>T (p.Met424Leu)
c.1267A>T (p.Met423Leu)
Xg.20172763T>CCA412516062RPS6KA3c.1336A>G (p.Met446Val)
c.1249A>G (p.Met417Val)
c.1252A>G (p.Met418Val)
c.954A>G (n.954A>G)
c.*557A>G (n.*557A>G)
n.102A>G
c.1333A>G (p.Met445Val)
c.1246A>G (p.Met416Val)
c.1354A>G (p.Met452Val)
c.1351A>G (p.Met451Val)
c.1270A>G (p.Met424Val)
c.1267A>G (p.Met423Val)
ClinVar
Xg.20172763T>GCA412516063RPS6KA3c.1336A>C (p.Met446Leu)
c.1249A>C (p.Met417Leu)
c.1252A>C (p.Met418Leu)
c.954A>C (n.954A>C)
c.*557A>C (n.*557A>C)
n.102A>C
c.1333A>C (p.Met445Leu)
c.1246A>C (p.Met416Leu)
c.1354A>C (p.Met452Leu)
c.1351A>C (p.Met451Leu)
c.1270A>C (p.Met424Leu)
c.1267A>C (p.Met423Leu)
Xg.20172764G>ACA515614051RPS6KA3c.1335C>T (p.Asn445=)
c.1248C>T (p.Asn416=)
c.1251C>T (p.Asn417=)
c.953C>T (n.953C>T)
c.*556C>T (n.*556C>T)
n.101C>T
c.1332C>T (p.Asn444=)
c.1245C>T (p.Asn415=)
c.1353C>T (p.Asn451=)
c.1350C>T (p.Asn450=)
c.1269C>T (p.Asn423=)
c.1266C>T (p.Asn422=)
Xg.20172764G>CCA412516064RPS6KA3c.1335C>G (p.Asn445Lys)
c.1248C>G (p.Asn416Lys)
c.1251C>G (p.Asn417Lys)
c.953C>G (n.953C>G)
c.*556C>G (n.*556C>G)
n.101C>G
c.1332C>G (p.Asn444Lys)
c.1245C>G (p.Asn415Lys)
c.1353C>G (p.Asn451Lys)
c.1350C>G (p.Asn450Lys)
c.1269C>G (p.Asn423Lys)
c.1266C>G (p.Asn422Lys)
Xg.20172764G>TCA412516065RPS6KA3c.1335C>A (p.Asn445Lys)
c.1248C>A (p.Asn416Lys)
c.1251C>A (p.Asn417Lys)
c.953C>A (n.953C>A)
c.*556C>A (n.*556C>A)
n.101C>A
c.1332C>A (p.Asn444Lys)
c.1245C>A (p.Asn415Lys)
c.1353C>A (p.Asn451Lys)
c.1350C>A (p.Asn450Lys)
c.1269C>A (p.Asn423Lys)
c.1266C>A (p.Asn422Lys)
Xg.20172765T>ACA412516074RPS6KA3c.1334A>T (p.Asn445Ile)
c.1247A>T (p.Asn416Ile)
c.1250A>T (p.Asn417Ile)
c.952A>T (n.952A>T)
c.*555A>T (n.*555A>T)
n.100A>T
c.1331A>T (p.Asn444Ile)
c.1244A>T (p.Asn415Ile)
c.1352A>T (p.Asn451Ile)
c.1349A>T (p.Asn450Ile)
c.1268A>T (p.Asn423Ile)
c.1265A>T (p.Asn422Ile)
Xg.20172765T>CCA412516069RPS6KA3c.1334A>G (p.Asn445Ser)
c.1247A>G (p.Asn416Ser)
c.1250A>G (p.Asn417Ser)
c.952A>G (n.952A>G)
c.*555A>G (n.*555A>G)
n.100A>G
c.1331A>G (p.Asn444Ser)
c.1244A>G (p.Asn415Ser)
c.1352A>G (p.Asn451Ser)
c.1349A>G (p.Asn450Ser)
c.1268A>G (p.Asn423Ser)
c.1265A>G (p.Asn422Ser)
ClinVar dbSNP gnomAD v4
Xg.20172765T>GCA412516067RPS6KA3c.1334A>C (p.Asn445Thr)
c.1247A>C (p.Asn416Thr)
c.1250A>C (p.Asn417Thr)
c.952A>C (n.952A>C)
c.*555A>C (n.*555A>C)
n.100A>C
c.1331A>C (p.Asn444Thr)
c.1244A>C (p.Asn415Thr)
c.1352A>C (p.Asn451Thr)
c.1349A>C (p.Asn450Thr)
c.1268A>C (p.Asn423Thr)
c.1265A>C (p.Asn422Thr)
Xg.20172765T=CA2418508451RPS6KA3c.1334A= (p.Asn445=)
c.1247A= (p.Asn416=)
c.1250A= (p.Asn417=)
c.952A= (n.952A=)
c.*555A= (n.*555A=)
n.100A=
c.1331A= (p.Asn444=)
c.1244A= (p.Asn415=)
c.1352A= (p.Asn451=)
c.1349A= (p.Asn450=)
c.1268A= (p.Asn423=)
c.1265A= (p.Asn422=)
Xg.20172766T>ACA412516079RPS6KA3c.1333A>T (p.Asn445Tyr)
c.1246A>T (p.Asn416Tyr)
c.1249A>T (p.Asn417Tyr)
c.951A>T (n.951A>T)
c.*554A>T (n.*554A>T)
n.99A>T
c.1330A>T (p.Asn444Tyr)
c.1243A>T (p.Asn415Tyr)
c.1351A>T (p.Asn451Tyr)
c.1348A>T (p.Asn450Tyr)
c.1267A>T (p.Asn423Tyr)
c.1264A>T (p.Asn422Tyr)
Xg.20172766T>CCA412516081RPS6KA3c.1333A>G (p.Asn445Asp)
c.1246A>G (p.Asn416Asp)
c.1249A>G (p.Asn417Asp)
c.951A>G (n.951A>G)
c.*554A>G (n.*554A>G)
n.99A>G
c.1330A>G (p.Asn444Asp)
c.1243A>G (p.Asn415Asp)
c.1351A>G (p.Asn451Asp)
c.1348A>G (p.Asn450Asp)
c.1267A>G (p.Asn423Asp)
c.1264A>G (p.Asn422Asp)
Xg.20172766T>GCA412516082RPS6KA3c.1333A>C (p.Asn445His)
c.1246A>C (p.Asn416His)
c.1249A>C (p.Asn417His)
c.951A>C (n.951A>C)
c.*554A>C (n.*554A>C)
n.99A>C
c.1330A>C (p.Asn444His)
c.1243A>C (p.Asn415His)
c.1351A>C (p.Asn451His)
c.1348A>C (p.Asn450His)
c.1267A>C (p.Asn423His)
c.1264A>C (p.Asn422His)
Xg.20172767T>ACA515614052RPS6KA3c.1332A>T (p.Thr444=)
c.1245A>T (p.Thr415=)
c.1248A>T (p.Thr416=)
c.950A>T (n.950A>T)
c.*553A>T (n.*553A>T)
n.98A>T
c.1329A>T (p.Thr443=)
c.1242A>T (p.Thr414=)
c.1350A>T (p.Thr450=)
c.1347A>T (p.Thr449=)
c.1266A>T (p.Thr422=)
c.1263A>T (p.Thr421=)
Xg.20172767T>CCA515614054RPS6KA3c.1332A>G (p.Thr444=)
c.1245A>G (p.Thr415=)
c.1248A>G (p.Thr416=)
c.950A>G (n.950A>G)
c.*553A>G (n.*553A>G)
n.98A>G
c.1329A>G (p.Thr443=)
c.1242A>G (p.Thr414=)
c.1350A>G (p.Thr450=)
c.1347A>G (p.Thr449=)
c.1266A>G (p.Thr422=)
c.1263A>G (p.Thr421=)
Xg.20172767T>GCA515614053RPS6KA3c.1332A>C (p.Thr444=)
c.1245A>C (p.Thr415=)
c.1248A>C (p.Thr416=)
c.950A>C (n.950A>C)
c.*553A>C (n.*553A>C)
n.98A>C
c.1329A>C (p.Thr443=)
c.1242A>C (p.Thr414=)
c.1350A>C (p.Thr450=)
c.1347A>C (p.Thr449=)
c.1266A>C (p.Thr422=)
c.1263A>C (p.Thr421=)
Xg.20172768G>ACA412516087RPS6KA3c.1331C>T (p.Thr444Ile)
c.1244C>T (p.Thr415Ile)
c.1247C>T (p.Thr416Ile)
c.949C>T (n.949C>T)
c.*552C>T (n.*552C>T)
n.97C>T
c.1328C>T (p.Thr443Ile)
c.1241C>T (p.Thr414Ile)
c.1349C>T (p.Thr450Ile)
c.1346C>T (p.Thr449Ile)
c.1265C>T (p.Thr422Ile)
c.1262C>T (p.Thr421Ile)
Xg.20172768G>CCA412516088RPS6KA3c.1331C>G (p.Thr444Arg)
c.1244C>G (p.Thr415Arg)
c.1247C>G (p.Thr416Arg)
c.949C>G (n.949C>G)
c.*552C>G (n.*552C>G)
n.97C>G
c.1328C>G (p.Thr443Arg)
c.1241C>G (p.Thr414Arg)
c.1349C>G (p.Thr450Arg)
c.1346C>G (p.Thr449Arg)
c.1265C>G (p.Thr422Arg)
c.1262C>G (p.Thr421Arg)
Xg.20172768G>TCA412516089RPS6KA3c.1331C>A (p.Thr444Lys)
c.1244C>A (p.Thr415Lys)
c.1247C>A (p.Thr416Lys)
c.949C>A (n.949C>A)
c.*552C>A (n.*552C>A)
n.97C>A
c.1328C>A (p.Thr443Lys)
c.1241C>A (p.Thr414Lys)
c.1349C>A (p.Thr450Lys)
c.1346C>A (p.Thr449Lys)
c.1265C>A (p.Thr422Lys)
c.1262C>A (p.Thr421Lys)
Xg.20172769T>ACA412516090RPS6KA3c.1330A>T (p.Thr444Ser)
c.1243A>T (p.Thr415Ser)
c.1246A>T (p.Thr416Ser)
c.948A>T (n.948A>T)
c.*551A>T (n.*551A>T)
n.96A>T
c.1327A>T (p.Thr443Ser)
c.1240A>T (p.Thr414Ser)
c.1348A>T (p.Thr450Ser)
c.1345A>T (p.Thr449Ser)
c.1264A>T (p.Thr422Ser)
c.1261A>T (p.Thr421Ser)
Xg.20172769T>CCA412516092RPS6KA3c.1330A>G (p.Thr444Ala)
c.1243A>G (p.Thr415Ala)
c.1246A>G (p.Thr416Ala)
c.948A>G (n.948A>G)
c.*551A>G (n.*551A>G)
n.96A>G
c.1327A>G (p.Thr443Ala)
c.1240A>G (p.Thr414Ala)
c.1348A>G (p.Thr450Ala)
c.1345A>G (p.Thr449Ala)
c.1264A>G (p.Thr422Ala)
c.1261A>G (p.Thr421Ala)
Xg.20172769T>GCA412516094RPS6KA3c.1330A>C (p.Thr444Pro)
c.1243A>C (p.Thr415Pro)
c.1246A>C (p.Thr416Pro)
c.948A>C (n.948A>C)
c.*551A>C (n.*551A>C)
n.96A>C
c.1327A>C (p.Thr443Pro)
c.1240A>C (p.Thr414Pro)
c.1348A>C (p.Thr450Pro)
c.1345A>C (p.Thr449Pro)
c.1264A>C (p.Thr422Pro)
c.1261A>C (p.Thr421Pro)
Xg.20172770A>CCA515614057RPS6KA3c.1329T>G (p.Ala443=)
c.1242T>G (p.Ala414=)
c.1245T>G (p.Ala415=)
c.947T>G (n.947T>G)
c.*550T>G (n.*550T>G)
n.95T>G
c.1326T>G (p.Ala442=)
c.1239T>G (p.Ala413=)
c.1347T>G (p.Ala449=)
c.1344T>G (p.Ala448=)
c.1263T>G (p.Ala421=)
c.1260T>G (p.Ala420=)
Xg.20172770A>GCA515614056RPS6KA3c.1329T>C (p.Ala443=)
c.1242T>C (p.Ala414=)
c.1245T>C (p.Ala415=)
c.947T>C (n.947T>C)
c.*550T>C (n.*550T>C)
n.95T>C
c.1326T>C (p.Ala442=)
c.1239T>C (p.Ala413=)
c.1347T>C (p.Ala449=)
c.1344T>C (p.Ala448=)
c.1263T>C (p.Ala421=)
c.1260T>C (p.Ala420=)
Xg.20172770A>TCA515614055RPS6KA3c.1329T>A (p.Ala443=)
c.1242T>A (p.Ala414=)
c.1245T>A (p.Ala415=)
c.947T>A (n.947T>A)
c.*550T>A (n.*550T>A)
n.95T>A
c.1326T>A (p.Ala442=)
c.1239T>A (p.Ala413=)
c.1347T>A (p.Ala449=)
c.1344T>A (p.Ala448=)
c.1263T>A (p.Ala421=)
c.1260T>A (p.Ala420=)
Xg.20172771G>ACA412516096RPS6KA3c.1328C>T (p.Ala443Val)
c.1241C>T (p.Ala414Val)
c.1244C>T (p.Ala415Val)
c.946C>T (n.946C>T)
c.*549C>T (n.*549C>T)
n.94C>T
c.1325C>T (p.Ala442Val)
c.1238C>T (p.Ala413Val)
c.1346C>T (p.Ala449Val)
c.1343C>T (p.Ala448Val)
c.1262C>T (p.Ala421Val)
c.1259C>T (p.Ala420Val)
dbSNP gnomAD v3 gnomAD v4
Xg.20172771G>CCA412516097RPS6KA3c.1328C>G (p.Ala443Gly)
c.1241C>G (p.Ala414Gly)
c.1244C>G (p.Ala415Gly)
c.946C>G (n.946C>G)
c.*549C>G (n.*549C>G)
n.94C>G
c.1325C>G (p.Ala442Gly)
c.1238C>G (p.Ala413Gly)
c.1346C>G (p.Ala449Gly)
c.1343C>G (p.Ala448Gly)
c.1262C>G (p.Ala421Gly)
c.1259C>G (p.Ala420Gly)
Xg.20172771G=CA2418508452RPS6KA3c.1328C= (p.Ala443=)
c.1241C= (p.Ala414=)
c.1244C= (p.Ala415=)
c.946C= (n.946C=)
c.*549C= (n.*549C=)
n.94C=
c.1325C= (p.Ala442=)
c.1238C= (p.Ala413=)
c.1346C= (p.Ala449=)
c.1343C= (p.Ala448=)
c.1262C= (p.Ala421=)
c.1259C= (p.Ala420=)
Xg.20172771G>TCA412516098RPS6KA3c.1328C>A (p.Ala443Asp)
c.1241C>A (p.Ala414Asp)
c.1244C>A (p.Ala415Asp)
c.946C>A (n.946C>A)
c.*549C>A (n.*549C>A)
n.94C>A
c.1325C>A (p.Ala442Asp)
c.1238C>A (p.Ala413Asp)
c.1346C>A (p.Ala449Asp)
c.1343C>A (p.Ala448Asp)
c.1262C>A (p.Ala421Asp)
c.1259C>A (p.Ala420Asp)
Xg.20172772C>ACA412516100RPS6KA3c.1327G>T (p.Ala443Ser)
c.1240G>T (p.Ala414Ser)
c.1243G>T (p.Ala415Ser)
c.945G>T (n.945G>T)
c.*548G>T (n.*548G>T)
n.93G>T
c.1324G>T (p.Ala442Ser)
c.1237G>T (p.Ala413Ser)
c.1345G>T (p.Ala449Ser)
c.1342G>T (p.Ala448Ser)
c.1261G>T (p.Ala421Ser)
c.1258G>T (p.Ala420Ser)
dbSNP gnomAD v4
Xg.20172772C=CA2418508453RPS6KA3c.1327G= (p.Ala443=)
c.1240G= (p.Ala414=)
c.1243G= (p.Ala415=)
c.945G= (n.945G=)
c.*548G= (n.*548G=)
n.93G=
c.1324G= (p.Ala442=)
c.1237G= (p.Ala413=)
c.1345G= (p.Ala449=)
c.1342G= (p.Ala448=)
c.1261G= (p.Ala421=)
c.1258G= (p.Ala420=)
Xg.20172772C>GCA412516101RPS6KA3c.1327G>C (p.Ala443Pro)
c.1240G>C (p.Ala414Pro)
c.1243G>C (p.Ala415Pro)
c.945G>C (n.945G>C)
c.*548G>C (n.*548G>C)
n.93G>C
c.1324G>C (p.Ala442Pro)
c.1237G>C (p.Ala413Pro)
c.1345G>C (p.Ala449Pro)
c.1342G>C (p.Ala448Pro)
c.1261G>C (p.Ala421Pro)
c.1258G>C (p.Ala420Pro)
Xg.20172772C>TCA412516099RPS6KA3c.1327G>A (p.Ala443Thr)
c.1240G>A (p.Ala414Thr)
c.1243G>A (p.Ala415Thr)
c.945G>A (n.945G>A)
c.*548G>A (n.*548G>A)
n.93G>A
c.1324G>A (p.Ala442Thr)
c.1237G>A (p.Ala413Thr)
c.1345G>A (p.Ala449Thr)
c.1342G>A (p.Ala448Thr)
c.1261G>A (p.Ala421Thr)
c.1258G>A (p.Ala420Thr)
Xg.20172773T>ACA412516103RPS6KA3c.1326A>T (p.Lys442Asn)
c.1239A>T (p.Lys413Asn)
c.1242A>T (p.Lys414Asn)
c.944A>T (n.944A>T)
c.*547A>T (n.*547A>T)
n.92A>T
c.1323A>T (p.Lys441Asn)
c.1236A>T (p.Lys412Asn)
c.1344A>T (p.Lys448Asn)
c.1341A>T (p.Lys447Asn)
c.1260A>T (p.Lys420Asn)
c.1257A>T (p.Lys419Asn)
Xg.20172773T>CCA515614058RPS6KA3c.1326A>G (p.Lys442=)
c.1239A>G (p.Lys413=)
c.1242A>G (p.Lys414=)
c.944A>G (n.944A>G)
c.*547A>G (n.*547A>G)
n.92A>G
c.1323A>G (p.Lys441=)
c.1236A>G (p.Lys412=)
c.1344A>G (p.Lys448=)
c.1341A>G (p.Lys447=)
c.1260A>G (p.Lys420=)
c.1257A>G (p.Lys419=)
Xg.20172773T>GCA412516102RPS6KA3c.1326A>C (p.Lys442Asn)
c.1239A>C (p.Lys413Asn)
c.1242A>C (p.Lys414Asn)
c.944A>C (n.944A>C)
c.*547A>C (n.*547A>C)
n.92A>C
c.1323A>C (p.Lys441Asn)
c.1236A>C (p.Lys412Asn)
c.1344A>C (p.Lys448Asn)
c.1341A>C (p.Lys447Asn)
c.1260A>C (p.Lys420Asn)
c.1257A>C (p.Lys419Asn)
Xg.20172774T>ACA412516107RPS6KA3c.1325A>T (p.Lys442Ile)
c.1238A>T (p.Lys413Ile)
c.1241A>T (p.Lys414Ile)
c.943A>T (n.943A>T)
c.*546A>T (n.*546A>T)
n.91A>T
c.1322A>T (p.Lys441Ile)
c.1235A>T (p.Lys412Ile)
c.1343A>T (p.Lys448Ile)
c.1340A>T (p.Lys447Ile)
c.1259A>T (p.Lys420Ile)
c.1256A>T (p.Lys419Ile)
Xg.20172774T>CCA412516109RPS6KA3c.1325A>G (p.Lys442Arg)
c.1238A>G (p.Lys413Arg)
c.1241A>G (p.Lys414Arg)
c.943A>G (n.943A>G)
c.*546A>G (n.*546A>G)
n.91A>G
c.1322A>G (p.Lys441Arg)
c.1235A>G (p.Lys412Arg)
c.1343A>G (p.Lys448Arg)
c.1340A>G (p.Lys447Arg)
c.1259A>G (p.Lys420Arg)
c.1256A>G (p.Lys419Arg)
Xg.20172774T>GCA412516112RPS6KA3c.1325A>C (p.Lys442Thr)
c.1238A>C (p.Lys413Thr)
c.1241A>C (p.Lys414Thr)
c.943A>C (n.943A>C)
c.*546A>C (n.*546A>C)
n.91A>C
c.1322A>C (p.Lys441Thr)
c.1235A>C (p.Lys412Thr)
c.1343A>C (p.Lys448Thr)
c.1340A>C (p.Lys447Thr)
c.1259A>C (p.Lys420Thr)
c.1256A>C (p.Lys419Thr)
Xg.20172775T>ACA412516114RPS6KA3c.1324A>T (p.Lys442Ter)
c.1237A>T (p.Lys413Ter)
c.1240A>T (p.Lys414Ter)
c.942A>T (n.942A>T)
c.*545A>T (n.*545A>T)
n.90A>T
c.1321A>T (p.Lys441Ter)
c.1234A>T (p.Lys412Ter)
c.1342A>T (p.Lys448Ter)
c.1339A>T (p.Lys447Ter)
c.1258A>T (p.Lys420Ter)
c.1255A>T (p.Lys419Ter)
Xg.20172775T>CCA412516117RPS6KA3c.1324A>G (p.Lys442Glu)
c.1237A>G (p.Lys413Glu)
c.1240A>G (p.Lys414Glu)
c.942A>G (n.942A>G)
c.*545A>G (n.*545A>G)
n.90A>G
c.1321A>G (p.Lys441Glu)
c.1234A>G (p.Lys412Glu)
c.1342A>G (p.Lys448Glu)
c.1339A>G (p.Lys447Glu)
c.1258A>G (p.Lys420Glu)
c.1255A>G (p.Lys419Glu)
Xg.20172775T>GCA412516119RPS6KA3c.1324A>C (p.Lys442Gln)
c.1237A>C (p.Lys413Gln)
c.1240A>C (p.Lys414Gln)
c.942A>C (n.942A>C)
c.*545A>C (n.*545A>C)
n.90A>C
c.1321A>C (p.Lys441Gln)
c.1234A>C (p.Lys412Gln)
c.1342A>C (p.Lys448Gln)
c.1339A>C (p.Lys447Gln)
c.1258A>C (p.Lys420Gln)
c.1255A>C (p.Lys419Gln)
Xg.20172775_20172792delCA645601250RPS6KA3c.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
Xg.20172776A>CCA412516121RPS6KA3c.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)
Xg.20172776A>GCA515614059RPS6KA3c.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=)
Xg.20172776A>TCA412516123RPS6KA3c.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)
Xg.20172777T>ACA412516124RPS6KA3c.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)
Xg.20172777T>CCA412516125RPS6KA3c.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)
Xg.20172777T>GCA412516126RPS6KA3c.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)
Xg.20172778G>ACA412516128RPS6KA3c.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
Xg.20172778G>CCA412516129RPS6KA3c.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)
Xg.20172778G=CA2418508454RPS6KA3c.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=)
Xg.20172778G>TCA412516127RPS6KA3c.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)
Xg.20172779T>ACA515614060RPS6KA3c.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=)
Xg.20172779T>CCA412516131RPS6KA3c.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)
Xg.20172779T>GCA10366134RPS6KA3c.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
Xg.20172779T=CA2418508455RPS6KA3c.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=)
Xg.20172780A>CCA412516137RPS6KA3c.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)
Xg.20172780A>GCA412516140RPS6KA3c.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)
Xg.20172780A>TCA412516142RPS6KA3c.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)
Xg.20172781T>ACA412516146RPS6KA3c.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)
Xg.20172781T>CCA412516144RPS6KA3c.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)
Xg.20172781T>GCA412516145RPS6KA3c.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)
Xg.20172782A>CCA412516147RPS6KA3c.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)
Xg.20172782A>GCA515614061RPS6KA3c.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
Xg.20172782A>TCA412516148RPS6KA3c.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)
Xg.20172783C>ACA412516150RPS6KA3c.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)
Xg.20172783C>GCA412516152RPS6KA3c.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)
Xg.20172783C>TCA412516154RPS6KA3c.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)
Xg.20172784A>CCA412516161RPS6KA3c.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)
Xg.20172784A>GCA412516160RPS6KA3c.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)
Xg.20172784A>TCA412516157RPS6KA3c.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)
Xg.20172785T>ACA412516162RPS6KA3c.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)
Xg.20172785T>CCA515614062RPS6KA3c.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
Xg.20172785T>GCA412516163RPS6KA3c.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)
Xg.20172786C>ACA412516164RPS6KA3c.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)
Xg.20172786C>GCA412516165RPS6KA3c.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)
Xg.20172786C>TCA412516167RPS6KA3c.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)
Xg.20172787T>ACA412516169RPS6KA3c.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)
Xg.20172787T>CCA412516170RPS6KA3c.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)
Xg.20172787T>GCA515614064RPS6KA3c.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=)
Xg.20172788C>ACA412516172RPS6KA3c.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)
Xg.20172788C>GCA412516175RPS6KA3c.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)
Xg.20172788C>TCA515614065RPS6KA3c.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=)
Xg.20172789T>ACA412516176RPS6KA3c.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)
Xg.20172789T>CCA412516177RPS6KA3c.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
Xg.20172789T>GCA412516178RPS6KA3c.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
Xg.20172790T>ACA412516180RPS6KA3c.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)
Xg.20172790T>CCA412516181RPS6KA3c.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)
Xg.20172790T>GCA412516182RPS6KA3c.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)
Xg.20172791G>ACA515614066RPS6KA3c.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
Xg.20172791G>CCA412516186RPS6KA3c.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)
Xg.20172791G=CA2418508457RPS6KA3c.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=)
Xg.20172791G>TCA412516189RPS6KA3c.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
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.20172792C>ACA412516191RPS6KA3c.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)
Xg.20172792C>GCA412516193RPS6KA3c.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)
Xg.20172792C>TCA412516197RPS6KA3c.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)
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.20172793A>CCA412516203RPS6KA3c.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)
Xg.20172793A>GCA412516210RPS6KA3c.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)
Xg.20172793A>TCA412516213RPS6KA3c.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)
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=)

Number of alleles fetched