Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.20172729A= | CA2418508443 | RPS6KA3 | c.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=) | |
X | g.20172729A>C | CA2693277426 | RPS6KA3 | c.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 |
X | g.20172729A>G | CA640849558 | RPS6KA3 | c.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 |
X | g.20172729A>T | CA2579569340 | RPS6KA3 | c.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 |
X | g.20172732_20172733delinsTA | CA2418508444 | RPS6KA3 | c.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) | |
X | g.20172740dup | CA10366131 | RPS6KA3 | c.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 |
X | g.20172740del | CA2418508445 | RPS6KA3 | c.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 |
X | g.20172735A= | CA2418508446 | RPS6KA3 | c.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=) | |
X | g.20172735A>G | CA10366132 | RPS6KA3 | c.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 |
X | g.20172739A= | CA2418508447 | RPS6KA3 | c.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=) | |
X | g.20172739A>G | CA640849559 | RPS6KA3 | c.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 |
X | g.20172740A= | CA2418508448 | RPS6KA3 | c.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=) | |
X | g.20172740A>T | CA327474691 | RPS6KA3 | c.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 |
X | g.20172741T>A | CA10366133 | RPS6KA3 | c.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 |
X | g.20172741T= | CA2418508449 | RPS6KA3 | c.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=) | |
X | g.20172742T>G | CA645601248 | RPS6KA3 | c.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 |
X | g.20172744A>C | CA412515975 | RPS6KA3 | c.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) | |
X | g.20172744A>G | CA412515977 | RPS6KA3 | c.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) | |
X | g.20172744A>T | CA412515978 | RPS6KA3 | c.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) | |
X | g.20172745C>A | CA412515981 | RPS6KA3 | c.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) | |
X | g.20172745C>G | CA412515982 | RPS6KA3 | c.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) | |
X | g.20172745C>T | CA412515984 | RPS6KA3 | c.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) | |
X | g.20172746C>A | CA412515988 | RPS6KA3 | c.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) | |
X | g.20172746C>G | CA412515986 | RPS6KA3 | c.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) | |
X | g.20172746C>T | CA515614042 | RPS6KA3 | c.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=) | |
X | g.20172747T>A | CA412515991 | RPS6KA3 | c.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) | |
X | g.20172747T>C | CA412515994 | RPS6KA3 | c.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) | |
X | g.20172747T>G | CA412515993 | RPS6KA3 | c.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) | |
X | g.20172748T>A | CA412515996 | RPS6KA3 | c.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) | |
X | g.20172748T>C | CA412515998 | RPS6KA3 | c.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) | |
X | g.20172748T>G | CA412515999 | RPS6KA3 | c.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) | |
X | g.20172749C>A | CA515614043 | RPS6KA3 | c.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=) | |
X | g.20172749C>G | CA515614044 | RPS6KA3 | c.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=) | |
X | g.20172749C>T | CA515614045 | RPS6KA3 | c.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=) | |
X | g.20172750A>C | CA412516000 | RPS6KA3 | c.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) | |
X | g.20172750A>G | CA412516001 | RPS6KA3 | c.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) | |
X | g.20172750A>T | CA412516002 | RPS6KA3 | c.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) | |
X | g.20172751C>A | CA412516005 | RPS6KA3 | c.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) | |
X | g.20172751C>G | CA412516007 | RPS6KA3 | c.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) | |
X | g.20172751C>T | CA412516009 | RPS6KA3 | c.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) | |
X | g.20172752T>A | CA515614046 | RPS6KA3 | c.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=) | |
X | g.20172752T>C | CA515614047 | RPS6KA3 | c.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=) | |
X | g.20172752T>G | CA515614048 | RPS6KA3 | c.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=) | |
X | g.20172753G>A | CA412516011 | RPS6KA3 | c.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) | |
X | g.20172753G>C | CA412516012 | RPS6KA3 | c.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) | |
X | g.20172753G>T | CA412516013 | RPS6KA3 | c.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 |
X | g.20172754C>A | CA412516018 | RPS6KA3 | c.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) | |
X | g.20172754C>G | CA412516017 | RPS6KA3 | c.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) | |
X | g.20172754C>T | CA412516015 | RPS6KA3 | c.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) | |
X | g.20172755A= | CA2418508450 | RPS6KA3 | c.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=) | |
X | g.20172755A>C | CA412516021 | RPS6KA3 | c.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 |
X | g.20172755A>G | CA515614049 | RPS6KA3 | c.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=) | |
X | g.20172755A>T | CA412516028 | RPS6KA3 | c.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 |
X | g.20172757del | CA2579569352 | RPS6KA3 | c.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) | |
X | g.20172756A>C | CA412516031 | RPS6KA3 | c.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) | |
X | g.20172756A>G | CA412516033 | RPS6KA3 | c.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) | |
X | g.20172756A>T | CA412516035 | RPS6KA3 | c.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) | |
X | g.20172757A>C | CA412516036 | RPS6KA3 | c.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) | |
X | g.20172757A>G | CA412516037 | RPS6KA3 | c.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) | |
X | g.20172757A>T | CA412516038 | RPS6KA3 | c.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) | |
X | g.20172758C>A | CA412516040 | RPS6KA3 | c.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) | |
X | g.20172758C>G | CA412516042 | RPS6KA3 | c.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) | |
X | g.20172758C>T | CA515614050 | RPS6KA3 | c.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 |
X | g.20172759T>A | CA412516044 | RPS6KA3 | c.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) | |
X | g.20172759T>C | CA412516045 | RPS6KA3 | c.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 |
X | g.20172759T>G | CA412516047 | RPS6KA3 | c.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) | |
X | g.20172760C>A | CA412516049 | RPS6KA3 | c.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) | |
X | g.20172760C>G | CA412516050 | RPS6KA3 | c.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) | |
X | g.20172760C>T | CA412516048 | RPS6KA3 | c.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) | |
X | g.20172761C>A | CA412516051 | RPS6KA3 | c.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) | |
X | g.20172761C>G | CA412516052 | RPS6KA3 | c.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) | |
X | g.20172761C>T | CA412516054 | RPS6KA3 | c.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 |
X | g.20172762A>C | CA412516057 | RPS6KA3 | c.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) | |
X | g.20172762A>G | CA412516059 | RPS6KA3 | c.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) | |
X | g.20172762A>T | CA412516060 | RPS6KA3 | c.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) | |
X | g.20172763T>A | CA412516061 | RPS6KA3 | c.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) | |
X | g.20172763T>C | CA412516062 | RPS6KA3 | c.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 |
X | g.20172763T>G | CA412516063 | RPS6KA3 | c.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) | |
X | g.20172764G>A | CA515614051 | RPS6KA3 | c.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=) | |
X | g.20172764G>C | CA412516064 | RPS6KA3 | c.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) | |
X | g.20172764G>T | CA412516065 | RPS6KA3 | c.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) | |
X | g.20172765T>A | CA412516074 | RPS6KA3 | c.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) | |
X | g.20172765T>C | CA412516069 | RPS6KA3 | c.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 |
X | g.20172765T>G | CA412516067 | RPS6KA3 | c.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) | |
X | g.20172765T= | CA2418508451 | RPS6KA3 | c.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=) | |
X | g.20172766T>A | CA412516079 | RPS6KA3 | c.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) | |
X | g.20172766T>C | CA412516081 | RPS6KA3 | c.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) | |
X | g.20172766T>G | CA412516082 | RPS6KA3 | c.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) | |
X | g.20172767T>A | CA515614052 | RPS6KA3 | c.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=) | |
X | g.20172767T>C | CA515614054 | RPS6KA3 | c.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=) | |
X | g.20172767T>G | CA515614053 | RPS6KA3 | c.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=) | |
X | g.20172768G>A | CA412516087 | RPS6KA3 | c.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) | |
X | g.20172768G>C | CA412516088 | RPS6KA3 | c.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) | |
X | g.20172768G>T | CA412516089 | RPS6KA3 | c.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) | |
X | g.20172769T>A | CA412516090 | RPS6KA3 | c.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) | |
X | g.20172769T>C | CA412516092 | RPS6KA3 | c.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) | |
X | g.20172769T>G | CA412516094 | RPS6KA3 | c.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) | |
X | g.20172770A>C | CA515614057 | RPS6KA3 | c.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=) | |
X | g.20172770A>G | CA515614056 | RPS6KA3 | c.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=) | |
X | g.20172770A>T | CA515614055 | RPS6KA3 | c.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=) | |
X | g.20172771G>A | CA412516096 | RPS6KA3 | c.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 |
X | g.20172771G>C | CA412516097 | RPS6KA3 | c.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) | |
X | g.20172771G= | CA2418508452 | RPS6KA3 | c.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=) | |
X | g.20172771G>T | CA412516098 | RPS6KA3 | c.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) | |
X | g.20172772C>A | CA412516100 | RPS6KA3 | c.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 |
X | g.20172772C= | CA2418508453 | RPS6KA3 | c.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=) | |
X | g.20172772C>G | CA412516101 | RPS6KA3 | c.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) | |
X | g.20172772C>T | CA412516099 | RPS6KA3 | c.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) | |
X | g.20172773T>A | CA412516103 | RPS6KA3 | c.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) | |
X | g.20172773T>C | CA515614058 | RPS6KA3 | c.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=) | |
X | g.20172773T>G | CA412516102 | RPS6KA3 | c.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) | |
X | g.20172774T>A | CA412516107 | RPS6KA3 | c.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) | |
X | g.20172774T>C | CA412516109 | RPS6KA3 | c.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) | |
X | g.20172774T>G | CA412516112 | RPS6KA3 | c.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) | |
X | g.20172775T>A | CA412516114 | RPS6KA3 | c.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) | |
X | g.20172775T>C | CA412516117 | RPS6KA3 | c.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) | |
X | g.20172775T>G | CA412516119 | RPS6KA3 | c.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) | |
X | g.20172775_20172792del | CA645601250 | RPS6KA3 | c.1307_1324del (p.Cys436Ter) c.1220_1237del (p.Cys407Ter) c.1223_1240del (p.Cys408Ter) c.925_942del (n.925_942del) c.*528_*545del (n.*528_*545del) n.73_90del c.1304_1321del (p.Cys435Ter) c.1217_1234del (p.Cys406Ter) c.1325_1342del (p.Cys442Ter) c.1322_1339del (p.Cys441Ter) c.1241_1258del (p.Cys414Ter) c.1238_1255del (p.Cys413Ter) | COSMIC |
X | g.20172776A>C | CA412516121 | RPS6KA3 | c.1323T>G (p.His441Gln) c.1236T>G (p.His412Gln) c.1239T>G (p.His413Gln) c.941T>G (n.941T>G) c.*544T>G (n.*544T>G) n.89T>G c.1320T>G (p.His440Gln) c.1233T>G (p.His411Gln) c.1341T>G (p.His447Gln) c.1338T>G (p.His446Gln) c.1257T>G (p.His419Gln) c.1254T>G (p.His418Gln) | |
X | g.20172776A>G | CA515614059 | RPS6KA3 | c.1323T>C (p.His441=) c.1236T>C (p.His412=) c.1239T>C (p.His413=) c.941T>C (n.941T>C) c.*544T>C (n.*544T>C) n.89T>C c.1320T>C (p.His440=) c.1233T>C (p.His411=) c.1341T>C (p.His447=) c.1338T>C (p.His446=) c.1257T>C (p.His419=) c.1254T>C (p.His418=) | |
X | g.20172776A>T | CA412516123 | RPS6KA3 | c.1323T>A (p.His441Gln) c.1236T>A (p.His412Gln) c.1239T>A (p.His413Gln) c.941T>A (n.941T>A) c.*544T>A (n.*544T>A) n.89T>A c.1320T>A (p.His440Gln) c.1233T>A (p.His411Gln) c.1341T>A (p.His447Gln) c.1338T>A (p.His446Gln) c.1257T>A (p.His419Gln) c.1254T>A (p.His418Gln) | |
X | g.20172777T>A | CA412516124 | RPS6KA3 | c.1322A>T (p.His441Leu) c.1235A>T (p.His412Leu) c.1238A>T (p.His413Leu) c.940A>T (n.940A>T) c.*543A>T (n.*543A>T) n.88A>T c.1319A>T (p.His440Leu) c.1232A>T (p.His411Leu) c.1340A>T (p.His447Leu) c.1337A>T (p.His446Leu) c.1256A>T (p.His419Leu) c.1253A>T (p.His418Leu) | |
X | g.20172777T>C | CA412516125 | RPS6KA3 | c.1322A>G (p.His441Arg) c.1235A>G (p.His412Arg) c.1238A>G (p.His413Arg) c.940A>G (n.940A>G) c.*543A>G (n.*543A>G) n.88A>G c.1319A>G (p.His440Arg) c.1232A>G (p.His411Arg) c.1340A>G (p.His447Arg) c.1337A>G (p.His446Arg) c.1256A>G (p.His419Arg) c.1253A>G (p.His418Arg) | |
X | g.20172777T>G | CA412516126 | RPS6KA3 | c.1322A>C (p.His441Pro) c.1235A>C (p.His412Pro) c.1238A>C (p.His413Pro) c.940A>C (n.940A>C) c.*543A>C (n.*543A>C) n.88A>C c.1319A>C (p.His440Pro) c.1232A>C (p.His411Pro) c.1340A>C (p.His447Pro) c.1337A>C (p.His446Pro) c.1256A>C (p.His419Pro) c.1253A>C (p.His418Pro) | |
X | g.20172778G>A | CA412516128 | RPS6KA3 | c.1321C>T (p.His441Tyr) c.1234C>T (p.His412Tyr) c.1237C>T (p.His413Tyr) c.939C>T (n.939C>T) c.*542C>T (n.*542C>T) n.87C>T c.1318C>T (p.His440Tyr) c.1231C>T (p.His411Tyr) c.1339C>T (p.His447Tyr) c.1336C>T (p.His446Tyr) c.1255C>T (p.His419Tyr) c.1252C>T (p.His418Tyr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.20172778G>C | CA412516129 | RPS6KA3 | c.1321C>G (p.His441Asp) c.1234C>G (p.His412Asp) c.1237C>G (p.His413Asp) c.939C>G (n.939C>G) c.*542C>G (n.*542C>G) n.87C>G c.1318C>G (p.His440Asp) c.1231C>G (p.His411Asp) c.1339C>G (p.His447Asp) c.1336C>G (p.His446Asp) c.1255C>G (p.His419Asp) c.1252C>G (p.His418Asp) | |
X | g.20172778G= | CA2418508454 | RPS6KA3 | c.1321C= (p.His441=) c.1234C= (p.His412=) c.1237C= (p.His413=) c.939C= (n.939C=) c.*542C= (n.*542C=) n.87C= c.1318C= (p.His440=) c.1231C= (p.His411=) c.1339C= (p.His447=) c.1336C= (p.His446=) c.1255C= (p.His419=) c.1252C= (p.His418=) | |
X | g.20172778G>T | CA412516127 | RPS6KA3 | c.1321C>A (p.His441Asn) c.1234C>A (p.His412Asn) c.1237C>A (p.His413Asn) c.939C>A (n.939C>A) c.*542C>A (n.*542C>A) n.87C>A c.1318C>A (p.His440Asn) c.1231C>A (p.His411Asn) c.1339C>A (p.His447Asn) c.1336C>A (p.His446Asn) c.1255C>A (p.His419Asn) c.1252C>A (p.His418Asn) | |
X | g.20172779T>A | CA515614060 | RPS6KA3 | c.1320A>T (p.Ile440=) c.1233A>T (p.Ile411=) c.1236A>T (p.Ile412=) c.938A>T (n.938A>T) c.*541A>T (n.*541A>T) n.86A>T c.1317A>T (p.Ile439=) c.1230A>T (p.Ile410=) c.1338A>T (p.Ile446=) c.1335A>T (p.Ile445=) c.1254A>T (p.Ile418=) c.1251A>T (p.Ile417=) | |
X | g.20172779T>C | CA412516131 | RPS6KA3 | c.1320A>G (p.Ile440Met) c.1233A>G (p.Ile411Met) c.1236A>G (p.Ile412Met) c.938A>G (n.938A>G) c.*541A>G (n.*541A>G) n.86A>G c.1317A>G (p.Ile439Met) c.1230A>G (p.Ile410Met) c.1338A>G (p.Ile446Met) c.1335A>G (p.Ile445Met) c.1254A>G (p.Ile418Met) c.1251A>G (p.Ile417Met) | |
X | g.20172779T>G | CA10366134 | RPS6KA3 | c.1320A>C (p.Ile440=) c.1233A>C (p.Ile411=) c.1236A>C (p.Ile412=) c.938A>C (n.938A>C) c.*541A>C (n.*541A>C) n.86A>C c.1317A>C (p.Ile439=) c.1230A>C (p.Ile410=) c.1338A>C (p.Ile446=) c.1335A>C (p.Ile445=) c.1254A>C (p.Ile418=) c.1251A>C (p.Ile417=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.20172779T= | CA2418508455 | RPS6KA3 | c.1320A= (p.Ile440=) c.1233A= (p.Ile411=) c.1236A= (p.Ile412=) c.938A= (n.938A=) c.*541A= (n.*541A=) n.86A= c.1317A= (p.Ile439=) c.1230A= (p.Ile410=) c.1338A= (p.Ile446=) c.1335A= (p.Ile445=) c.1254A= (p.Ile418=) c.1251A= (p.Ile417=) | |
X | g.20172780A>C | CA412516137 | RPS6KA3 | c.1319T>G (p.Ile440Arg) c.1232T>G (p.Ile411Arg) c.1235T>G (p.Ile412Arg) c.937T>G (n.937T>G) c.*540T>G (n.*540T>G) n.85T>G c.1316T>G (p.Ile439Arg) c.1229T>G (p.Ile410Arg) c.1337T>G (p.Ile446Arg) c.1334T>G (p.Ile445Arg) c.1253T>G (p.Ile418Arg) c.1250T>G (p.Ile417Arg) | |
X | g.20172780A>G | CA412516140 | RPS6KA3 | c.1319T>C (p.Ile440Thr) c.1232T>C (p.Ile411Thr) c.1235T>C (p.Ile412Thr) c.937T>C (n.937T>C) c.*540T>C (n.*540T>C) n.85T>C c.1316T>C (p.Ile439Thr) c.1229T>C (p.Ile410Thr) c.1337T>C (p.Ile446Thr) c.1334T>C (p.Ile445Thr) c.1253T>C (p.Ile418Thr) c.1250T>C (p.Ile417Thr) | |
X | g.20172780A>T | CA412516142 | RPS6KA3 | c.1319T>A (p.Ile440Lys) c.1232T>A (p.Ile411Lys) c.1235T>A (p.Ile412Lys) c.937T>A (n.937T>A) c.*540T>A (n.*540T>A) n.85T>A c.1316T>A (p.Ile439Lys) c.1229T>A (p.Ile410Lys) c.1337T>A (p.Ile446Lys) c.1334T>A (p.Ile445Lys) c.1253T>A (p.Ile418Lys) c.1250T>A (p.Ile417Lys) | |
X | g.20172781T>A | CA412516146 | RPS6KA3 | c.1318A>T (p.Ile440Leu) c.1231A>T (p.Ile411Leu) c.1234A>T (p.Ile412Leu) c.936A>T (n.936A>T) c.*539A>T (n.*539A>T) n.84A>T c.1315A>T (p.Ile439Leu) c.1228A>T (p.Ile410Leu) c.1336A>T (p.Ile446Leu) c.1333A>T (p.Ile445Leu) c.1252A>T (p.Ile418Leu) c.1249A>T (p.Ile417Leu) | |
X | g.20172781T>C | CA412516144 | RPS6KA3 | c.1318A>G (p.Ile440Val) c.1231A>G (p.Ile411Val) c.1234A>G (p.Ile412Val) c.936A>G (n.936A>G) c.*539A>G (n.*539A>G) n.84A>G c.1315A>G (p.Ile439Val) c.1228A>G (p.Ile410Val) c.1336A>G (p.Ile446Val) c.1333A>G (p.Ile445Val) c.1252A>G (p.Ile418Val) c.1249A>G (p.Ile417Val) | |
X | g.20172781T>G | CA412516145 | RPS6KA3 | c.1318A>C (p.Ile440Leu) c.1231A>C (p.Ile411Leu) c.1234A>C (p.Ile412Leu) c.936A>C (n.936A>C) c.*539A>C (n.*539A>C) n.84A>C c.1315A>C (p.Ile439Leu) c.1228A>C (p.Ile410Leu) c.1336A>C (p.Ile446Leu) c.1333A>C (p.Ile445Leu) c.1252A>C (p.Ile418Leu) c.1249A>C (p.Ile417Leu) | |
X | g.20172782A>C | CA412516147 | RPS6KA3 | c.1317T>G (p.Cys439Trp) c.1230T>G (p.Cys410Trp) c.1233T>G (p.Cys411Trp) c.935T>G (n.935T>G) c.*538T>G (n.*538T>G) n.83T>G c.1314T>G (p.Cys438Trp) c.1227T>G (p.Cys409Trp) c.1335T>G (p.Cys445Trp) c.1332T>G (p.Cys444Trp) c.1251T>G (p.Cys417Trp) c.1248T>G (p.Cys416Trp) | |
X | g.20172782A>G | CA515614061 | RPS6KA3 | c.1317T>C (p.Cys439=) c.1230T>C (p.Cys410=) c.1233T>C (p.Cys411=) c.935T>C (n.935T>C) c.*538T>C (n.*538T>C) n.83T>C c.1314T>C (p.Cys438=) c.1227T>C (p.Cys409=) c.1335T>C (p.Cys445=) c.1332T>C (p.Cys444=) c.1251T>C (p.Cys417=) c.1248T>C (p.Cys416=) | ClinVar gnomAD v4 COSMIC |
X | g.20172782A>T | CA412516148 | RPS6KA3 | c.1317T>A (p.Cys439Ter) c.1230T>A (p.Cys410Ter) c.1233T>A (p.Cys411Ter) c.935T>A (n.935T>A) c.*538T>A (n.*538T>A) n.83T>A c.1314T>A (p.Cys438Ter) c.1227T>A (p.Cys409Ter) c.1335T>A (p.Cys445Ter) c.1332T>A (p.Cys444Ter) c.1251T>A (p.Cys417Ter) c.1248T>A (p.Cys416Ter) | |
X | g.20172783C>A | CA412516150 | RPS6KA3 | c.1316G>T (p.Cys439Phe) c.1229G>T (p.Cys410Phe) c.1232G>T (p.Cys411Phe) c.934G>T (n.934G>T) c.*537G>T (n.*537G>T) n.82G>T c.1313G>T (p.Cys438Phe) c.1226G>T (p.Cys409Phe) c.1334G>T (p.Cys445Phe) c.1331G>T (p.Cys444Phe) c.1250G>T (p.Cys417Phe) c.1247G>T (p.Cys416Phe) | |
X | g.20172783C>G | CA412516152 | RPS6KA3 | c.1316G>C (p.Cys439Ser) c.1229G>C (p.Cys410Ser) c.1232G>C (p.Cys411Ser) c.934G>C (n.934G>C) c.*537G>C (n.*537G>C) n.82G>C c.1313G>C (p.Cys438Ser) c.1226G>C (p.Cys409Ser) c.1334G>C (p.Cys445Ser) c.1331G>C (p.Cys444Ser) c.1250G>C (p.Cys417Ser) c.1247G>C (p.Cys416Ser) | |
X | g.20172783C>T | CA412516154 | RPS6KA3 | c.1316G>A (p.Cys439Tyr) c.1229G>A (p.Cys410Tyr) c.1232G>A (p.Cys411Tyr) c.934G>A (n.934G>A) c.*537G>A (n.*537G>A) n.82G>A c.1313G>A (p.Cys438Tyr) c.1226G>A (p.Cys409Tyr) c.1334G>A (p.Cys445Tyr) c.1331G>A (p.Cys444Tyr) c.1250G>A (p.Cys417Tyr) c.1247G>A (p.Cys416Tyr) | |
X | g.20172784A>C | CA412516161 | RPS6KA3 | c.1315T>G (p.Cys439Gly) c.1228T>G (p.Cys410Gly) c.1231T>G (p.Cys411Gly) c.933T>G (n.933T>G) c.*536T>G (n.*536T>G) n.81T>G c.1312T>G (p.Cys438Gly) c.1225T>G (p.Cys409Gly) c.1333T>G (p.Cys445Gly) c.1330T>G (p.Cys444Gly) c.1249T>G (p.Cys417Gly) c.1246T>G (p.Cys416Gly) | |
X | g.20172784A>G | CA412516160 | RPS6KA3 | c.1315T>C (p.Cys439Arg) c.1228T>C (p.Cys410Arg) c.1231T>C (p.Cys411Arg) c.933T>C (n.933T>C) c.*536T>C (n.*536T>C) n.81T>C c.1312T>C (p.Cys438Arg) c.1225T>C (p.Cys409Arg) c.1333T>C (p.Cys445Arg) c.1330T>C (p.Cys444Arg) c.1249T>C (p.Cys417Arg) c.1246T>C (p.Cys416Arg) | |
X | g.20172784A>T | CA412516157 | RPS6KA3 | c.1315T>A (p.Cys439Ser) c.1228T>A (p.Cys410Ser) c.1231T>A (p.Cys411Ser) c.933T>A (n.933T>A) c.*536T>A (n.*536T>A) n.81T>A c.1312T>A (p.Cys438Ser) c.1225T>A (p.Cys409Ser) c.1333T>A (p.Cys445Ser) c.1330T>A (p.Cys444Ser) c.1249T>A (p.Cys417Ser) c.1246T>A (p.Cys416Ser) | |
X | g.20172785T>A | CA412516162 | RPS6KA3 | c.1314A>T (p.Arg438Ser) c.1227A>T (p.Arg409Ser) c.1230A>T (p.Arg410Ser) c.932A>T (n.932A>T) c.*535A>T (n.*535A>T) n.80A>T c.1311A>T (p.Arg437Ser) c.1224A>T (p.Arg408Ser) c.1332A>T (p.Arg444Ser) c.1329A>T (p.Arg443Ser) c.1248A>T (p.Arg416Ser) c.1245A>T (p.Arg415Ser) | |
X | g.20172785T>C | CA515614062 | RPS6KA3 | c.1314A>G (p.Arg438=) c.1227A>G (p.Arg409=) c.1230A>G (p.Arg410=) c.932A>G (n.932A>G) c.*535A>G (n.*535A>G) n.80A>G c.1311A>G (p.Arg437=) c.1224A>G (p.Arg408=) c.1332A>G (p.Arg444=) c.1329A>G (p.Arg443=) c.1248A>G (p.Arg416=) c.1245A>G (p.Arg415=) | gnomAD v4 |
X | g.20172785T>G | CA412516163 | RPS6KA3 | c.1314A>C (p.Arg438Ser) c.1227A>C (p.Arg409Ser) c.1230A>C (p.Arg410Ser) c.932A>C (n.932A>C) c.*535A>C (n.*535A>C) n.80A>C c.1311A>C (p.Arg437Ser) c.1224A>C (p.Arg408Ser) c.1332A>C (p.Arg444Ser) c.1329A>C (p.Arg443Ser) c.1248A>C (p.Arg416Ser) c.1245A>C (p.Arg415Ser) | |
X | g.20172786C>A | CA412516164 | RPS6KA3 | c.1313G>T (p.Arg438Ile) c.1226G>T (p.Arg409Ile) c.1229G>T (p.Arg410Ile) c.931G>T (n.931G>T) c.*534G>T (n.*534G>T) n.79G>T c.1310G>T (p.Arg437Ile) c.1223G>T (p.Arg408Ile) c.1331G>T (p.Arg444Ile) c.1328G>T (p.Arg443Ile) c.1247G>T (p.Arg416Ile) c.1244G>T (p.Arg415Ile) | |
X | g.20172786C>G | CA412516165 | RPS6KA3 | c.1313G>C (p.Arg438Thr) c.1226G>C (p.Arg409Thr) c.1229G>C (p.Arg410Thr) c.931G>C (n.931G>C) c.*534G>C (n.*534G>C) n.79G>C c.1310G>C (p.Arg437Thr) c.1223G>C (p.Arg408Thr) c.1331G>C (p.Arg444Thr) c.1328G>C (p.Arg443Thr) c.1247G>C (p.Arg416Thr) c.1244G>C (p.Arg415Thr) | |
X | g.20172786C>T | CA412516167 | RPS6KA3 | c.1313G>A (p.Arg438Lys) c.1226G>A (p.Arg409Lys) c.1229G>A (p.Arg410Lys) c.931G>A (n.931G>A) c.*534G>A (n.*534G>A) n.79G>A c.1310G>A (p.Arg437Lys) c.1223G>A (p.Arg408Lys) c.1331G>A (p.Arg444Lys) c.1328G>A (p.Arg443Lys) c.1247G>A (p.Arg416Lys) c.1244G>A (p.Arg415Lys) | |
X | g.20172787T>A | CA412516169 | RPS6KA3 | c.1312A>T (p.Arg438Ter) c.1225A>T (p.Arg409Ter) c.1228A>T (p.Arg410Ter) c.930A>T (n.930A>T) c.*533A>T (n.*533A>T) n.78A>T c.1309A>T (p.Arg437Ter) c.1222A>T (p.Arg408Ter) c.1330A>T (p.Arg444Ter) c.1327A>T (p.Arg443Ter) c.1246A>T (p.Arg416Ter) c.1243A>T (p.Arg415Ter) | |
X | g.20172787T>C | CA412516170 | RPS6KA3 | c.1312A>G (p.Arg438Gly) c.1225A>G (p.Arg409Gly) c.1228A>G (p.Arg410Gly) c.930A>G (n.930A>G) c.*533A>G (n.*533A>G) n.78A>G c.1309A>G (p.Arg437Gly) c.1222A>G (p.Arg408Gly) c.1330A>G (p.Arg444Gly) c.1327A>G (p.Arg443Gly) c.1246A>G (p.Arg416Gly) c.1243A>G (p.Arg415Gly) | |
X | g.20172787T>G | CA515614064 | RPS6KA3 | c.1312A>C (p.Arg438=) c.1225A>C (p.Arg409=) c.1228A>C (p.Arg410=) c.930A>C (n.930A>C) c.*533A>C (n.*533A>C) n.78A>C c.1309A>C (p.Arg437=) c.1222A>C (p.Arg408=) c.1330A>C (p.Arg444=) c.1327A>C (p.Arg443=) c.1246A>C (p.Arg416=) c.1243A>C (p.Arg415=) | |
X | g.20172788C>A | CA412516172 | RPS6KA3 | c.1311G>T (p.Lys437Asn) c.1224G>T (p.Lys408Asn) c.1227G>T (p.Lys409Asn) c.929G>T (n.929G>T) c.*532G>T (n.*532G>T) n.77G>T c.1308G>T (p.Lys436Asn) c.1221G>T (p.Lys407Asn) c.1329G>T (p.Lys443Asn) c.1326G>T (p.Lys442Asn) c.1245G>T (p.Lys415Asn) c.1242G>T (p.Lys414Asn) | |
X | g.20172788C>G | CA412516175 | RPS6KA3 | c.1311G>C (p.Lys437Asn) c.1224G>C (p.Lys408Asn) c.1227G>C (p.Lys409Asn) c.929G>C (n.929G>C) c.*532G>C (n.*532G>C) n.77G>C c.1308G>C (p.Lys436Asn) c.1221G>C (p.Lys407Asn) c.1329G>C (p.Lys443Asn) c.1326G>C (p.Lys442Asn) c.1245G>C (p.Lys415Asn) c.1242G>C (p.Lys414Asn) | |
X | g.20172788C>T | CA515614065 | RPS6KA3 | c.1311G>A (p.Lys437=) c.1224G>A (p.Lys408=) c.1227G>A (p.Lys409=) c.929G>A (n.929G>A) c.*532G>A (n.*532G>A) n.77G>A c.1308G>A (p.Lys436=) c.1221G>A (p.Lys407=) c.1329G>A (p.Lys443=) c.1326G>A (p.Lys442=) c.1245G>A (p.Lys415=) c.1242G>A (p.Lys414=) | |
X | g.20172789T>A | CA412516176 | RPS6KA3 | c.1310A>T (p.Lys437Met) c.1223A>T (p.Lys408Met) c.1226A>T (p.Lys409Met) c.928A>T (n.928A>T) c.*531A>T (n.*531A>T) n.76A>T c.1307A>T (p.Lys436Met) c.1220A>T (p.Lys407Met) c.1328A>T (p.Lys443Met) c.1325A>T (p.Lys442Met) c.1244A>T (p.Lys415Met) c.1241A>T (p.Lys414Met) | |
X | g.20172789T>C | CA412516177 | RPS6KA3 | c.1310A>G (p.Lys437Arg) c.1223A>G (p.Lys408Arg) c.1226A>G (p.Lys409Arg) c.928A>G (n.928A>G) c.*531A>G (n.*531A>G) n.76A>G c.1307A>G (p.Lys436Arg) c.1220A>G (p.Lys407Arg) c.1328A>G (p.Lys443Arg) c.1325A>G (p.Lys442Arg) c.1244A>G (p.Lys415Arg) c.1241A>G (p.Lys414Arg) | gnomAD v4 |
X | g.20172789T>G | CA412516178 | RPS6KA3 | c.1310A>C (p.Lys437Thr) c.1223A>C (p.Lys408Thr) c.1226A>C (p.Lys409Thr) c.928A>C (n.928A>C) c.*531A>C (n.*531A>C) n.76A>C c.1307A>C (p.Lys436Thr) c.1220A>C (p.Lys407Thr) c.1328A>C (p.Lys443Thr) c.1325A>C (p.Lys442Thr) c.1244A>C (p.Lys415Thr) c.1241A>C (p.Lys414Thr) | gnomAD v4 |
X | g.20172790T>A | CA412516180 | RPS6KA3 | c.1309A>T (p.Lys437Ter) c.1222A>T (p.Lys408Ter) c.1225A>T (p.Lys409Ter) c.927A>T (n.927A>T) c.*530A>T (n.*530A>T) n.75A>T c.1306A>T (p.Lys436Ter) c.1219A>T (p.Lys407Ter) c.1327A>T (p.Lys443Ter) c.1324A>T (p.Lys442Ter) c.1243A>T (p.Lys415Ter) c.1240A>T (p.Lys414Ter) | |
X | g.20172790T>C | CA412516181 | RPS6KA3 | c.1309A>G (p.Lys437Glu) c.1222A>G (p.Lys408Glu) c.1225A>G (p.Lys409Glu) c.927A>G (n.927A>G) c.*530A>G (n.*530A>G) n.75A>G c.1306A>G (p.Lys436Glu) c.1219A>G (p.Lys407Glu) c.1327A>G (p.Lys443Glu) c.1324A>G (p.Lys442Glu) c.1243A>G (p.Lys415Glu) c.1240A>G (p.Lys414Glu) | |
X | g.20172790T>G | CA412516182 | RPS6KA3 | c.1309A>C (p.Lys437Gln) c.1222A>C (p.Lys408Gln) c.1225A>C (p.Lys409Gln) c.927A>C (n.927A>C) c.*530A>C (n.*530A>C) n.75A>C c.1306A>C (p.Lys436Gln) c.1219A>C (p.Lys407Gln) c.1327A>C (p.Lys443Gln) c.1324A>C (p.Lys442Gln) c.1243A>C (p.Lys415Gln) c.1240A>C (p.Lys414Gln) | |
X | g.20172791G>A | CA515614066 | RPS6KA3 | c.1308C>T (p.Cys436=) c.1221C>T (p.Cys407=) c.1224C>T (p.Cys408=) c.926C>T (n.926C>T) c.*529C>T (n.*529C>T) n.74C>T c.1305C>T (p.Cys435=) c.1218C>T (p.Cys406=) c.1326C>T (p.Cys442=) c.1323C>T (p.Cys441=) c.1242C>T (p.Cys414=) c.1239C>T (p.Cys413=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.20172791G>C | CA412516186 | RPS6KA3 | c.1308C>G (p.Cys436Trp) c.1221C>G (p.Cys407Trp) c.1224C>G (p.Cys408Trp) c.926C>G (n.926C>G) c.*529C>G (n.*529C>G) n.74C>G c.1305C>G (p.Cys435Trp) c.1218C>G (p.Cys406Trp) c.1326C>G (p.Cys442Trp) c.1323C>G (p.Cys441Trp) c.1242C>G (p.Cys414Trp) c.1239C>G (p.Cys413Trp) | |
X | g.20172791G= | CA2418508457 | RPS6KA3 | c.1308C= (p.Cys436=) c.1221C= (p.Cys407=) c.1224C= (p.Cys408=) c.926C= (n.926C=) c.*529C= (n.*529C=) n.74C= c.1305C= (p.Cys435=) c.1218C= (p.Cys406=) c.1326C= (p.Cys442=) c.1323C= (p.Cys441=) c.1242C= (p.Cys414=) c.1239C= (p.Cys413=) | |
X | g.20172791G>T | CA412516189 | RPS6KA3 | c.1308C>A (p.Cys436Ter) c.1221C>A (p.Cys407Ter) c.1224C>A (p.Cys408Ter) c.926C>A (n.926C>A) c.*529C>A (n.*529C>A) n.74C>A c.1305C>A (p.Cys435Ter) c.1218C>A (p.Cys406Ter) c.1326C>A (p.Cys442Ter) c.1323C>A (p.Cys441Ter) c.1242C>A (p.Cys414Ter) c.1239C>A (p.Cys413Ter) | ClinVar dbSNP |
X | g.20172791_20172795delinsGCAAA | CA2418508456 | RPS6KA3 | c.1304_1308delinsTTTGC (p.Val435=) c.1217_1221delinsTTTGC (p.Val406=) c.1220_1224delinsTTTGC (p.Val407=) c.922_926delinsTTTGC (n.922_926delinsTTTGC) c.*525_*529delinsTTTGC (n.*525_*529delinsTTTGC) n.70_74delinsTTTGC c.1301_1305delinsTTTGC (p.Val434=) c.1214_1218delinsTTTGC (p.Val405=) c.1322_1326delinsTTTGC (p.Val441=) c.1319_1323delinsTTTGC (p.Val440=) c.1238_1242delinsTTTGC (p.Val413=) c.1235_1239delinsTTTGC (p.Val412=) | |
X | g.20172792C>A | CA412516191 | RPS6KA3 | c.1307G>T (p.Cys436Phe) c.1220G>T (p.Cys407Phe) c.1223G>T (p.Cys408Phe) c.925G>T (n.925G>T) c.*528G>T (n.*528G>T) n.73G>T c.1304G>T (p.Cys435Phe) c.1217G>T (p.Cys406Phe) c.1325G>T (p.Cys442Phe) c.1322G>T (p.Cys441Phe) c.1241G>T (p.Cys414Phe) c.1238G>T (p.Cys413Phe) | |
X | g.20172792C>G | CA412516193 | RPS6KA3 | c.1307G>C (p.Cys436Ser) c.1220G>C (p.Cys407Ser) c.1223G>C (p.Cys408Ser) c.925G>C (n.925G>C) c.*528G>C (n.*528G>C) n.73G>C c.1304G>C (p.Cys435Ser) c.1217G>C (p.Cys406Ser) c.1325G>C (p.Cys442Ser) c.1322G>C (p.Cys441Ser) c.1241G>C (p.Cys414Ser) c.1238G>C (p.Cys413Ser) | |
X | g.20172792C>T | CA412516197 | RPS6KA3 | c.1307G>A (p.Cys436Tyr) c.1220G>A (p.Cys407Tyr) c.1223G>A (p.Cys408Tyr) c.925G>A (n.925G>A) c.*528G>A (n.*528G>A) n.73G>A c.1304G>A (p.Cys435Tyr) c.1217G>A (p.Cys406Tyr) c.1325G>A (p.Cys442Tyr) c.1322G>A (p.Cys441Tyr) c.1241G>A (p.Cys414Tyr) c.1238G>A (p.Cys413Tyr) | |
X | g.20172794_20172797del | CA206513 | RPS6KA3 | c.1304_1307del (p.Val435AlafsTer15) c.1217_1220del (p.Val406AlafsTer15) c.1220_1223del (p.Val407AlafsTer15) c.922_925del (n.922_925del) c.*525_*528del (n.*525_*528del) n.70_73del c.1301_1304del (p.Val434AlafsTer15) c.1214_1217del (p.Val405AlafsTer15) c.1322_1325del (p.Val441AlafsTer15) c.1319_1322del (p.Val440AlafsTer15) c.1238_1241del (p.Val413AlafsTer15) c.1235_1238del (p.Val412AlafsTer15) | ClinVar dbSNP |
X | g.20172793A>C | CA412516203 | RPS6KA3 | c.1306T>G (p.Cys436Gly) c.1219T>G (p.Cys407Gly) c.1222T>G (p.Cys408Gly) c.924T>G (n.924T>G) c.*527T>G (n.*527T>G) n.72T>G c.1303T>G (p.Cys435Gly) c.1216T>G (p.Cys406Gly) c.1324T>G (p.Cys442Gly) c.1321T>G (p.Cys441Gly) c.1240T>G (p.Cys414Gly) c.1237T>G (p.Cys413Gly) | |
X | g.20172793A>G | CA412516210 | RPS6KA3 | c.1306T>C (p.Cys436Arg) c.1219T>C (p.Cys407Arg) c.1222T>C (p.Cys408Arg) c.924T>C (n.924T>C) c.*527T>C (n.*527T>C) n.72T>C c.1303T>C (p.Cys435Arg) c.1216T>C (p.Cys406Arg) c.1324T>C (p.Cys442Arg) c.1321T>C (p.Cys441Arg) c.1240T>C (p.Cys414Arg) c.1237T>C (p.Cys413Arg) | |
X | g.20172793A>T | CA412516213 | RPS6KA3 | c.1306T>A (p.Cys436Ser) c.1219T>A (p.Cys407Ser) c.1222T>A (p.Cys408Ser) c.924T>A (n.924T>A) c.*527T>A (n.*527T>A) n.72T>A c.1303T>A (p.Cys435Ser) c.1216T>A (p.Cys406Ser) c.1324T>A (p.Cys442Ser) c.1321T>A (p.Cys441Ser) c.1240T>A (p.Cys414Ser) c.1237T>A (p.Cys413Ser) | |
X | g.20172794A>C | CA515614069 | RPS6KA3 | c.1305T>G (p.Val435=) c.1218T>G (p.Val406=) c.1221T>G (p.Val407=) c.923T>G (n.923T>G) c.*526T>G (n.*526T>G) n.71T>G c.1302T>G (p.Val434=) c.1215T>G (p.Val405=) c.1323T>G (p.Val441=) c.1320T>G (p.Val440=) c.1239T>G (p.Val413=) c.1236T>G (p.Val412=) | |
X | g.20172794A>G | CA515614067 | RPS6KA3 | c.1305T>C (p.Val435=) c.1218T>C (p.Val406=) c.1221T>C (p.Val407=) c.923T>C (n.923T>C) c.*526T>C (n.*526T>C) n.71T>C c.1302T>C (p.Val434=) c.1215T>C (p.Val405=) c.1323T>C (p.Val441=) c.1320T>C (p.Val440=) c.1239T>C (p.Val413=) c.1236T>C (p.Val412=) | |
X | g.20172794A>T | CA515614068 | RPS6KA3 | c.1305T>A (p.Val435=) c.1218T>A (p.Val406=) c.1221T>A (p.Val407=) c.923T>A (n.923T>A) c.*526T>A (n.*526T>A) n.71T>A c.1302T>A (p.Val434=) c.1215T>A (p.Val405=) c.1323T>A (p.Val441=) c.1320T>A (p.Val440=) c.1239T>A (p.Val413=) c.1236T>A (p.Val412=) | |
X | g.20172795A>C | CA412516214 | RPS6KA3 | c.1304T>G (p.Val435Gly) c.1217T>G (p.Val406Gly) c.1220T>G (p.Val407Gly) c.922T>G (n.922T>G) c.*525T>G (n.*525T>G) n.70T>G c.1301T>G (p.Val434Gly) c.1214T>G (p.Val405Gly) c.1322T>G (p.Val441Gly) c.1319T>G (p.Val440Gly) c.1238T>G (p.Val413Gly) c.1235T>G (p.Val412Gly) | |
X | g.20172795A>G | CA412516215 | RPS6KA3 | c.1304T>C (p.Val435Ala) c.1217T>C (p.Val406Ala) c.1220T>C (p.Val407Ala) c.922T>C (n.922T>C) c.*525T>C (n.*525T>C) n.70T>C c.1301T>C (p.Val434Ala) c.1214T>C (p.Val405Ala) c.1322T>C (p.Val441Ala) c.1319T>C (p.Val440Ala) c.1238T>C (p.Val413Ala) c.1235T>C (p.Val412Ala) | |
X | g.20172795A>T | CA412516217 | RPS6KA3 | c.1304T>A (p.Val435Asp) c.1217T>A (p.Val406Asp) c.1220T>A (p.Val407Asp) c.922T>A (n.922T>A) c.*525T>A (n.*525T>A) n.70T>A c.1301T>A (p.Val434Asp) c.1214T>A (p.Val405Asp) c.1322T>A (p.Val441Asp) c.1319T>A (p.Val440Asp) c.1238T>A (p.Val413Asp) c.1235T>A (p.Val412Asp) | |
X | g.20172795_20172800del | CA645601251 | RPS6KA3 | c.1299_1304del (p.Ser434_Val435del) c.1212_1217del (p.Ser405_Val406del) c.1215_1220del (p.Ser406_Val407del) c.917_922del (n.917_922del) c.*520_*525del (n.*520_*525del) n.65_70del c.1296_1301del (p.Ser433_Val434del) c.1209_1214del (p.Ser404_Val405del) c.1317_1322del (p.Ser440_Val441del) c.1314_1319del (p.Ser439_Val440del) c.1233_1238del (p.Ser412_Val413del) c.1230_1235del (p.Ser411_Val412del) | COSMIC |
X | g.20172796C>A | CA412516220 | RPS6KA3 | c.1303G>T (p.Val435Phe) c.1216G>T (p.Val406Phe) c.1219G>T (p.Val407Phe) c.921G>T (n.921G>T) c.*524G>T (n.*524G>T) n.69G>T c.1300G>T (p.Val434Phe) c.1213G>T (p.Val405Phe) c.1321G>T (p.Val441Phe) c.1318G>T (p.Val440Phe) c.1237G>T (p.Val413Phe) c.1234G>T (p.Val412Phe) | |
X | g.20172796C= | CA2418508458 | RPS6KA3 | c.1303G= (p.Val435=) c.1216G= (p.Val406=) c.1219G= (p.Val407=) c.921G= (n.921G=) c.*524G= (n.*524G=) n.69G= c.1300G= (p.Val434=) c.1213G= (p.Val405=) c.1321G= (p.Val441=) c.1318G= (p.Val440=) c.1237G= (p.Val413=) c.1234G= (p.Val412=) | |
X | g.20172796C>G | CA412516223 | RPS6KA3 | c.1303G>C (p.Val435Leu) c.1216G>C (p.Val406Leu) c.1219G>C (p.Val407Leu) c.921G>C (n.921G>C) c.*524G>C (n.*524G>C) n.69G>C c.1300G>C (p.Val434Leu) c.1213G>C (p.Val405Leu) c.1321G>C (p.Val441Leu) c.1318G>C (p.Val440Leu) c.1237G>C (p.Val413Leu) c.1234G>C (p.Val412Leu) | dbSNP gnomAD v4 |
X | g.20172796C>T | CA412516229 | RPS6KA3 | c.1303G>A (p.Val435Ile) c.1216G>A (p.Val406Ile) c.1219G>A (p.Val407Ile) c.921G>A (n.921G>A) c.*524G>A (n.*524G>A) n.69G>A c.1300G>A (p.Val434Ile) c.1213G>A (p.Val405Ile) c.1321G>A (p.Val441Ile) c.1318G>A (p.Val440Ile) c.1237G>A (p.Val413Ile) c.1234G>A (p.Val412Ile) | |
X | g.20172797A= | CA2418508459 | RPS6KA3 | c.1302T= (p.Ser434=) c.1215T= (p.Ser405=) c.1218T= (p.Ser406=) c.920T= (n.920T=) c.*523T= (n.*523T=) n.68T= c.1299T= (p.Ser433=) c.1212T= (p.Ser404=) c.1320T= (p.Ser440=) c.1317T= (p.Ser439=) c.1236T= (p.Ser412=) c.1233T= (p.Ser411=) | |
X | g.20172797A>C | CA515614070 | RPS6KA3 | c.1302T>G (p.Ser434=) c.1215T>G (p.Ser405=) c.1218T>G (p.Ser406=) c.920T>G (n.920T>G) c.*523T>G (n.*523T>G) n.68T>G c.1299T>G (p.Ser433=) c.1212T>G (p.Ser404=) c.1320T>G (p.Ser440=) c.1317T>G (p.Ser439=) c.1236T>G (p.Ser412=) c.1233T>G (p.Ser411=) | |
X | g.20172797A>G | CA515614072 | RPS6KA3 | c.1302T>C (p.Ser434=) c.1215T>C (p.Ser405=) c.1218T>C (p.Ser406=) c.920T>C (n.920T>C) c.*523T>C (n.*523T>C) n.68T>C c.1299T>C (p.Ser433=) c.1212T>C (p.Ser404=) c.1320T>C (p.Ser440=) c.1317T>C (p.Ser439=) c.1236T>C (p.Ser412=) c.1233T>C (p.Ser411=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20172797A>T | CA515614071 | RPS6KA3 | c.1302T>A (p.Ser434=) c.1215T>A (p.Ser405=) c.1218T>A (p.Ser406=) c.920T>A (n.920T>A) c.*523T>A (n.*523T>A) n.68T>A c.1299T>A (p.Ser433=) c.1212T>A (p.Ser404=) c.1320T>A (p.Ser440=) c.1317T>A (p.Ser439=) c.1236T>A (p.Ser412=) c.1233T>A (p.Ser411=) | |
X | g.20172798G>A | CA412516232 | RPS6KA3 | c.1301C>T (p.Ser434Phe) c.1214C>T (p.Ser405Phe) c.1217C>T (p.Ser406Phe) c.919C>T (n.919C>T) c.*522C>T (n.*522C>T) n.67C>T c.1298C>T (p.Ser433Phe) c.1211C>T (p.Ser404Phe) c.1319C>T (p.Ser440Phe) c.1316C>T (p.Ser439Phe) c.1235C>T (p.Ser412Phe) c.1232C>T (p.Ser411Phe) | |
X | g.20172798G>C | CA412516233 | RPS6KA3 | c.1301C>G (p.Ser434Cys) c.1214C>G (p.Ser405Cys) c.1217C>G (p.Ser406Cys) c.919C>G (n.919C>G) c.*522C>G (n.*522C>G) n.67C>G c.1298C>G (p.Ser433Cys) c.1211C>G (p.Ser404Cys) c.1319C>G (p.Ser440Cys) c.1316C>G (p.Ser439Cys) c.1235C>G (p.Ser412Cys) c.1232C>G (p.Ser411Cys) | |
X | g.20172798G>T | CA412516231 | RPS6KA3 | c.1301C>A (p.Ser434Tyr) c.1214C>A (p.Ser405Tyr) c.1217C>A (p.Ser406Tyr) c.919C>A (n.919C>A) c.*522C>A (n.*522C>A) n.67C>A c.1298C>A (p.Ser433Tyr) c.1211C>A (p.Ser404Tyr) c.1319C>A (p.Ser440Tyr) c.1316C>A (p.Ser439Tyr) c.1235C>A (p.Ser412Tyr) c.1232C>A (p.Ser411Tyr) | |
X | g.20172799A>C | CA412516235 | RPS6KA3 | c.1300T>G (p.Ser434Ala) c.1213T>G (p.Ser405Ala) c.1216T>G (p.Ser406Ala) c.918T>G (n.918T>G) c.*521T>G (n.*521T>G) n.66T>G c.1297T>G (p.Ser433Ala) c.1210T>G (p.Ser404Ala) c.1318T>G (p.Ser440Ala) c.1315T>G (p.Ser439Ala) c.1234T>G (p.Ser412Ala) c.1231T>G (p.Ser411Ala) | |
X | g.20172799A>G | CA412516234 | RPS6KA3 | c.1300T>C (p.Ser434Pro) c.1213T>C (p.Ser405Pro) c.1216T>C (p.Ser406Pro) c.918T>C (n.918T>C) c.*521T>C (n.*521T>C) n.66T>C c.1297T>C (p.Ser433Pro) c.1210T>C (p.Ser404Pro) c.1318T>C (p.Ser440Pro) c.1315T>C (p.Ser439Pro) c.1234T>C (p.Ser412Pro) c.1231T>C (p.Ser411Pro) | gnomAD v4 |
X | g.20172799A>T | CA412516237 | RPS6KA3 | c.1300T>A (p.Ser434Thr) c.1213T>A (p.Ser405Thr) c.1216T>A (p.Ser406Thr) c.918T>A (n.918T>A) c.*521T>A (n.*521T>A) n.66T>A c.1297T>A (p.Ser433Thr) c.1210T>A (p.Ser404Thr) c.1318T>A (p.Ser440Thr) c.1315T>A (p.Ser439Thr) c.1234T>A (p.Ser412Thr) c.1231T>A (p.Ser411Thr) | |
X | g.20172800G>A | CA515614073 | RPS6KA3 | c.1299C>T (p.Tyr433=) c.1212C>T (p.Tyr404=) c.1215C>T (p.Tyr405=) c.917C>T (n.917C>T) c.*520C>T (n.*520C>T) n.65C>T c.1296C>T (p.Tyr432=) c.1209C>T (p.Tyr403=) c.1317C>T (p.Tyr439=) c.1314C>T (p.Tyr438=) c.1233C>T (p.Tyr411=) c.1230C>T (p.Tyr410=) | |
X | g.20172800G>C | CA412516239 | RPS6KA3 | c.1299C>G (p.Tyr433Ter) c.1212C>G (p.Tyr404Ter) c.1215C>G (p.Tyr405Ter) c.917C>G (n.917C>G) c.*520C>G (n.*520C>G) n.65C>G c.1296C>G (p.Tyr432Ter) c.1209C>G (p.Tyr403Ter) c.1317C>G (p.Tyr439Ter) c.1314C>G (p.Tyr438Ter) c.1233C>G (p.Tyr411Ter) c.1230C>G (p.Tyr410Ter) | |
X | g.20172800G>T | CA412516240 | RPS6KA3 | c.1299C>A (p.Tyr433Ter) c.1212C>A (p.Tyr404Ter) c.1215C>A (p.Tyr405Ter) c.917C>A (n.917C>A) c.*520C>A (n.*520C>A) n.65C>A c.1296C>A (p.Tyr432Ter) c.1209C>A (p.Tyr403Ter) c.1317C>A (p.Tyr439Ter) c.1314C>A (p.Tyr438Ter) c.1233C>A (p.Tyr411Ter) c.1230C>A (p.Tyr410Ter) | |
X | g.20172801T>A | CA412516243 | RPS6KA3 | c.1298A>T (p.Tyr433Phe) c.1211A>T (p.Tyr404Phe) c.1214A>T (p.Tyr405Phe) c.916A>T (n.916A>T) c.*519A>T (n.*519A>T) n.64A>T c.1295A>T (p.Tyr432Phe) c.1208A>T (p.Tyr403Phe) c.1316A>T (p.Tyr439Phe) c.1313A>T (p.Tyr438Phe) c.1232A>T (p.Tyr411Phe) c.1229A>T (p.Tyr410Phe) | |
X | g.20172801T>C | CA412516244 | RPS6KA3 | c.1298A>G (p.Tyr433Cys) c.1211A>G (p.Tyr404Cys) c.1214A>G (p.Tyr405Cys) c.916A>G (n.916A>G) c.*519A>G (n.*519A>G) n.64A>G c.1295A>G (p.Tyr432Cys) c.1208A>G (p.Tyr403Cys) c.1316A>G (p.Tyr439Cys) c.1313A>G (p.Tyr438Cys) c.1232A>G (p.Tyr411Cys) c.1229A>G (p.Tyr410Cys) | |
X | g.20172801T>G | CA412516246 | RPS6KA3 | c.1298A>C (p.Tyr433Ser) c.1211A>C (p.Tyr404Ser) c.1214A>C (p.Tyr405Ser) c.916A>C (n.916A>C) c.*519A>C (n.*519A>C) n.64A>C c.1295A>C (p.Tyr432Ser) c.1208A>C (p.Tyr403Ser) c.1316A>C (p.Tyr439Ser) c.1313A>C (p.Tyr438Ser) c.1232A>C (p.Tyr411Ser) c.1229A>C (p.Tyr410Ser) | |
X | g.20172802A>C | CA412516248 | RPS6KA3 | c.1297T>G (p.Tyr433Asp) c.1210T>G (p.Tyr404Asp) c.1213T>G (p.Tyr405Asp) c.915T>G (n.915T>G) c.*518T>G (n.*518T>G) n.63T>G c.1294T>G (p.Tyr432Asp) c.1207T>G (p.Tyr403Asp) c.1315T>G (p.Tyr439Asp) c.1312T>G (p.Tyr438Asp) c.1231T>G (p.Tyr411Asp) c.1228T>G (p.Tyr410Asp) | |
X | g.20172802A>G | CA412516252 | RPS6KA3 | c.1297T>C (p.Tyr433His) c.1210T>C (p.Tyr404His) c.1213T>C (p.Tyr405His) c.915T>C (n.915T>C) c.*518T>C (n.*518T>C) n.63T>C c.1294T>C (p.Tyr432His) c.1207T>C (p.Tyr403His) c.1315T>C (p.Tyr439His) c.1312T>C (p.Tyr438His) c.1231T>C (p.Tyr411His) c.1228T>C (p.Tyr410His) | |
X | g.20172802A>T | CA412516255 | RPS6KA3 | c.1297T>A (p.Tyr433Asn) c.1210T>A (p.Tyr404Asn) c.1213T>A (p.Tyr405Asn) c.915T>A (n.915T>A) c.*518T>A (n.*518T>A) n.63T>A c.1294T>A (p.Tyr432Asn) c.1207T>A (p.Tyr403Asn) c.1315T>A (p.Tyr439Asn) c.1312T>A (p.Tyr438Asn) c.1231T>A (p.Tyr411Asn) c.1228T>A (p.Tyr410Asn) | |
X | g.20172803G>A | CA10366135 | RPS6KA3 | c.1296C>T (p.Ser432=) c.1209C>T (p.Ser403=) c.1212C>T (p.Ser404=) c.914C>T (n.914C>T) c.*517C>T (n.*517C>T) n.62C>T c.1293C>T (p.Ser431=) c.1206C>T (p.Ser402=) c.1314C>T (p.Ser438=) c.1311C>T (p.Ser437=) c.1230C>T (p.Ser410=) c.1227C>T (p.Ser409=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20172803G>C | CA515614074 | RPS6KA3 | c.1296C>G (p.Ser432=) c.1209C>G (p.Ser403=) c.1212C>G (p.Ser404=) c.914C>G (n.914C>G) c.*517C>G (n.*517C>G) n.62C>G c.1293C>G (p.Ser431=) c.1206C>G (p.Ser402=) c.1314C>G (p.Ser438=) c.1311C>G (p.Ser437=) c.1230C>G (p.Ser410=) c.1227C>G (p.Ser409=) | |
X | g.20172803G= | CA2418508460 | RPS6KA3 | c.1296C= (p.Ser432=) c.1209C= (p.Ser403=) c.1212C= (p.Ser404=) c.914C= (n.914C=) c.*517C= (n.*517C=) n.62C= c.1293C= (p.Ser431=) c.1206C= (p.Ser402=) c.1314C= (p.Ser438=) c.1311C= (p.Ser437=) c.1230C= (p.Ser410=) c.1227C= (p.Ser409=) | |
X | g.20172803G>T | CA515614075 | RPS6KA3 | c.1296C>A (p.Ser432=) c.1209C>A (p.Ser403=) c.1212C>A (p.Ser404=) c.914C>A (n.914C>A) c.*517C>A (n.*517C>A) n.62C>A c.1293C>A (p.Ser431=) c.1206C>A (p.Ser402=) c.1314C>A (p.Ser438=) c.1311C>A (p.Ser437=) c.1230C>A (p.Ser410=) c.1227C>A (p.Ser409=) | |
X | g.20172804G>A | CA412516260 | RPS6KA3 | c.1295C>T (p.Ser432Phe) c.1208C>T (p.Ser403Phe) c.1211C>T (p.Ser404Phe) c.913C>T (n.913C>T) c.*516C>T (n.*516C>T) n.61C>T c.1292C>T (p.Ser431Phe) c.1205C>T (p.Ser402Phe) c.1313C>T (p.Ser438Phe) c.1310C>T (p.Ser437Phe) c.1229C>T (p.Ser410Phe) c.1226C>T (p.Ser409Phe) | dbSNP gnomAD v3 gnomAD v4 |
X | g.20172804G>C | CA412516261 | RPS6KA3 | c.1295C>G (p.Ser432Cys) c.1208C>G (p.Ser403Cys) c.1211C>G (p.Ser404Cys) c.913C>G (n.913C>G) c.*516C>G (n.*516C>G) n.61C>G c.1292C>G (p.Ser431Cys) c.1205C>G (p.Ser402Cys) c.1313C>G (p.Ser438Cys) c.1310C>G (p.Ser437Cys) c.1229C>G (p.Ser410Cys) c.1226C>G (p.Ser409Cys) | |
X | g.20172804G= | CA2418508461 | RPS6KA3 | c.1295C= (p.Ser432=) c.1208C= (p.Ser403=) c.1211C= (p.Ser404=) c.913C= (n.913C=) c.*516C= (n.*516C=) n.61C= c.1292C= (p.Ser431=) c.1205C= (p.Ser402=) c.1313C= (p.Ser438=) c.1310C= (p.Ser437=) c.1229C= (p.Ser410=) c.1226C= (p.Ser409=) | |
X | g.20172804G>T | CA412516266 | RPS6KA3 | c.1295C>A (p.Ser432Tyr) c.1208C>A (p.Ser403Tyr) c.1211C>A (p.Ser404Tyr) c.913C>A (n.913C>A) c.*516C>A (n.*516C>A) n.61C>A c.1292C>A (p.Ser431Tyr) c.1205C>A (p.Ser402Tyr) c.1313C>A (p.Ser438Tyr) c.1310C>A (p.Ser437Tyr) c.1229C>A (p.Ser410Tyr) c.1226C>A (p.Ser409Tyr) | |
X | g.20172805A>C | CA412516276 | RPS6KA3 | c.1294T>G (p.Ser432Ala) c.1207T>G (p.Ser403Ala) c.1210T>G (p.Ser404Ala) c.912T>G (n.912T>G) c.*515T>G (n.*515T>G) n.60T>G c.1291T>G (p.Ser431Ala) c.1204T>G (p.Ser402Ala) c.1312T>G (p.Ser438Ala) c.1309T>G (p.Ser437Ala) c.1228T>G (p.Ser410Ala) c.1225T>G (p.Ser409Ala) | |
X | g.20172805A>G | CA412516273 | RPS6KA3 | c.1294T>C (p.Ser432Pro) c.1207T>C (p.Ser403Pro) c.1210T>C (p.Ser404Pro) c.912T>C (n.912T>C) c.*515T>C (n.*515T>C) n.60T>C c.1291T>C (p.Ser431Pro) c.1204T>C (p.Ser402Pro) c.1312T>C (p.Ser438Pro) c.1309T>C (p.Ser437Pro) c.1228T>C (p.Ser410Pro) c.1225T>C (p.Ser409Pro) | |
X | g.20172805A>T | CA412516270 | RPS6KA3 | c.1294T>A (p.Ser432Thr) c.1207T>A (p.Ser403Thr) c.1210T>A (p.Ser404Thr) c.912T>A (n.912T>A) c.*515T>A (n.*515T>A) n.60T>A c.1291T>A (p.Ser431Thr) c.1204T>A (p.Ser402Thr) c.1312T>A (p.Ser438Thr) c.1309T>A (p.Ser437Thr) c.1228T>A (p.Ser410Thr) c.1225T>A (p.Ser409Thr) | |
X | g.20172806G>A | CA515614076 | RPS6KA3 | c.1293C>T (p.Gly431=) c.1206C>T (p.Gly402=) c.1209C>T (p.Gly403=) c.911C>T (n.911C>T) c.*514C>T (n.*514C>T) n.59C>T c.1290C>T (p.Gly430=) c.1203C>T (p.Gly401=) c.1311C>T (p.Gly437=) c.1308C>T (p.Gly436=) c.1227C>T (p.Gly409=) c.1224C>T (p.Gly408=) | |
X | g.20172806G>C | CA515614077 | RPS6KA3 | c.1293C>G (p.Gly431=) c.1206C>G (p.Gly402=) c.1209C>G (p.Gly403=) c.911C>G (n.911C>G) c.*514C>G (n.*514C>G) n.59C>G c.1290C>G (p.Gly430=) c.1203C>G (p.Gly401=) c.1311C>G (p.Gly437=) c.1308C>G (p.Gly436=) c.1227C>G (p.Gly409=) c.1224C>G (p.Gly408=) | |
X | g.20172806G>T | CA515614078 | RPS6KA3 | c.1293C>A (p.Gly431=) c.1206C>A (p.Gly402=) c.1209C>A (p.Gly403=) c.911C>A (n.911C>A) c.*514C>A (n.*514C>A) n.59C>A c.1290C>A (p.Gly430=) c.1203C>A (p.Gly401=) c.1311C>A (p.Gly437=) c.1308C>A (p.Gly436=) c.1227C>A (p.Gly409=) c.1224C>A (p.Gly408=) | |
X | g.20172807C>A | CA412516277 | RPS6KA3 | c.1292G>T (p.Gly431Val) c.1205G>T (p.Gly402Val) c.1208G>T (p.Gly403Val) c.910G>T (n.910G>T) c.*513G>T (n.*513G>T) n.58G>T c.1289G>T (p.Gly430Val) c.1202G>T (p.Gly401Val) c.1310G>T (p.Gly437Val) c.1307G>T (p.Gly436Val) c.1226G>T (p.Gly409Val) c.1223G>T (p.Gly408Val) | |
X | g.20172807C>G | CA412516278 | RPS6KA3 | c.1292G>C (p.Gly431Ala) c.1205G>C (p.Gly402Ala) c.1208G>C (p.Gly403Ala) c.910G>C (n.910G>C) c.*513G>C (n.*513G>C) n.58G>C c.1289G>C (p.Gly430Ala) c.1202G>C (p.Gly401Ala) c.1310G>C (p.Gly437Ala) c.1307G>C (p.Gly436Ala) c.1226G>C (p.Gly409Ala) c.1223G>C (p.Gly408Ala) | |
X | g.20172807C>T | CA412516279 | RPS6KA3 | c.1292G>A (p.Gly431Asp) c.1205G>A (p.Gly402Asp) c.1208G>A (p.Gly403Asp) c.910G>A (n.910G>A) c.*513G>A (n.*513G>A) n.58G>A c.1289G>A (p.Gly430Asp) c.1202G>A (p.Gly401Asp) c.1310G>A (p.Gly437Asp) c.1307G>A (p.Gly436Asp) c.1226G>A (p.Gly409Asp) c.1223G>A (p.Gly408Asp) | |
X | g.20172807_20172808insAGTTTA | CA2527202632 | RPS6KA3 | c.1291_1292insTAAACT (p.Gly431delinsValAsnCys) c.1204_1205insTAAACT (p.Gly402delinsValAsnCys) c.1207_1208insTAAACT (p.Gly403delinsValAsnCys) c.909_910insTAAACT (n.909_910insTAAACT) c.*512_*513insTAAACT (n.*512_*513insTAAACT) n.57_58insTAAACT c.1288_1289insTAAACT (p.Gly430delinsValAsnCys) c.1201_1202insTAAACT (p.Gly401delinsValAsnCys) c.1309_1310insTAAACT (p.Gly437delinsValAsnCys) c.1306_1307insTAAACT (p.Gly436delinsValAsnCys) c.1225_1226insTAAACT (p.Gly409delinsValAsnCys) c.1222_1223insTAAACT (p.Gly408delinsValAsnCys) | |
X | g.20172808C>A | CA412516281 | RPS6KA3 | c.1291G>T (p.Gly431Cys) c.1204G>T (p.Gly402Cys) c.1207G>T (p.Gly403Cys) c.909G>T (n.909G>T) c.*512G>T (n.*512G>T) n.57G>T c.1288G>T (p.Gly430Cys) c.1201G>T (p.Gly401Cys) c.1309G>T (p.Gly437Cys) c.1306G>T (p.Gly436Cys) c.1225G>T (p.Gly409Cys) c.1222G>T (p.Gly408Cys) | ClinVar COSMIC |
X | g.20172808C>G | CA412516283 | RPS6KA3 | c.1291G>C (p.Gly431Arg) c.1204G>C (p.Gly402Arg) c.1207G>C (p.Gly403Arg) c.909G>C (n.909G>C) c.*512G>C (n.*512G>C) n.57G>C c.1288G>C (p.Gly430Arg) c.1201G>C (p.Gly401Arg) c.1309G>C (p.Gly437Arg) c.1306G>C (p.Gly436Arg) c.1225G>C (p.Gly409Arg) c.1222G>C (p.Gly408Arg) | |
X | g.20172808C>T | CA412516286 | RPS6KA3 | c.1291G>A (p.Gly431Ser) c.1204G>A (p.Gly402Ser) c.1207G>A (p.Gly403Ser) c.909G>A (n.909G>A) c.*512G>A (n.*512G>A) n.57G>A c.1288G>A (p.Gly430Ser) c.1201G>A (p.Gly401Ser) c.1309G>A (p.Gly437Ser) c.1306G>A (p.Gly436Ser) c.1225G>A (p.Gly409Ser) c.1222G>A (p.Gly408Ser) | |
X | g.20172809A>C | CA515614079 | RPS6KA3 | c.1290T>G (p.Val430=) c.1203T>G (p.Val401=) c.1206T>G (p.Val402=) c.908T>G (n.908T>G) c.*511T>G (n.*511T>G) n.56T>G c.1287T>G (p.Val429=) c.1200T>G (p.Val400=) c.1308T>G (p.Val436=) c.1305T>G (p.Val435=) c.1224T>G (p.Val408=) c.1221T>G (p.Val407=) | |
X | g.20172809A>G | CA515614080 | RPS6KA3 | c.1290T>C (p.Val430=) c.1203T>C (p.Val401=) c.1206T>C (p.Val402=) c.908T>C (n.908T>C) c.*511T>C (n.*511T>C) n.56T>C c.1287T>C (p.Val429=) c.1200T>C (p.Val400=) c.1308T>C (p.Val436=) c.1305T>C (p.Val435=) c.1224T>C (p.Val408=) c.1221T>C (p.Val407=) | |
X | g.20172809A>T | CA515614081 | RPS6KA3 | c.1290T>A (p.Val430=) c.1203T>A (p.Val401=) c.1206T>A (p.Val402=) c.908T>A (n.908T>A) c.*511T>A (n.*511T>A) n.56T>A c.1287T>A (p.Val429=) c.1200T>A (p.Val400=) c.1308T>A (p.Val436=) c.1305T>A (p.Val435=) c.1224T>A (p.Val408=) c.1221T>A (p.Val407=) | |
X | g.20172810A>C | CA412516294 | RPS6KA3 | c.1289T>G (p.Val430Gly) c.1202T>G (p.Val401Gly) c.1205T>G (p.Val402Gly) c.907T>G (n.907T>G) c.*510T>G (n.*510T>G) n.55T>G c.1286T>G (p.Val429Gly) c.1199T>G (p.Val400Gly) c.1307T>G (p.Val436Gly) c.1304T>G (p.Val435Gly) c.1223T>G (p.Val408Gly) c.1220T>G (p.Val407Gly) | |
X | g.20172810A>G | CA412516309 | RPS6KA3 | c.1289T>C (p.Val430Ala) c.1202T>C (p.Val401Ala) c.1205T>C (p.Val402Ala) c.907T>C (n.907T>C) c.*510T>C (n.*510T>C) n.55T>C c.1286T>C (p.Val429Ala) c.1199T>C (p.Val400Ala) c.1307T>C (p.Val436Ala) c.1304T>C (p.Val435Ala) c.1223T>C (p.Val408Ala) c.1220T>C (p.Val407Ala) | |
X | g.20172810A>T | CA412516312 | RPS6KA3 | c.1289T>A (p.Val430Asp) c.1202T>A (p.Val401Asp) c.1205T>A (p.Val402Asp) c.907T>A (n.907T>A) c.*510T>A (n.*510T>A) n.55T>A c.1286T>A (p.Val429Asp) c.1199T>A (p.Val400Asp) c.1307T>A (p.Val436Asp) c.1304T>A (p.Val435Asp) c.1223T>A (p.Val408Asp) c.1220T>A (p.Val407Asp) | |
X | g.20172811C>A | CA412516314 | RPS6KA3 | c.1288G>T (p.Val430Phe) c.1201G>T (p.Val401Phe) c.1204G>T (p.Val402Phe) c.906G>T (n.906G>T) c.*509G>T (n.*509G>T) n.54G>T c.1285G>T (p.Val429Phe) c.1198G>T (p.Val400Phe) c.1306G>T (p.Val436Phe) c.1303G>T (p.Val435Phe) c.1222G>T (p.Val408Phe) c.1219G>T (p.Val407Phe) | |
X | g.20172811C>G | CA412516319 | RPS6KA3 | c.1288G>C (p.Val430Leu) c.1201G>C (p.Val401Leu) c.1204G>C (p.Val402Leu) c.906G>C (n.906G>C) c.*509G>C (n.*509G>C) n.54G>C c.1285G>C (p.Val429Leu) c.1198G>C (p.Val400Leu) c.1306G>C (p.Val436Leu) c.1303G>C (p.Val435Leu) c.1222G>C (p.Val408Leu) c.1219G>C (p.Val407Leu) | |
X | g.20172811C>T | CA412516320 | RPS6KA3 | c.1288G>A (p.Val430Ile) c.1201G>A (p.Val401Ile) c.1204G>A (p.Val402Ile) c.906G>A (n.906G>A) c.*509G>A (n.*509G>A) n.54G>A c.1285G>A (p.Val429Ile) c.1198G>A (p.Val400Ile) c.1306G>A (p.Val436Ile) c.1303G>A (p.Val435Ile) c.1222G>A (p.Val408Ile) c.1219G>A (p.Val407Ile) | |
X | g.20172812T>A | CA515614084 | RPS6KA3 | c.1287A>T (p.Gly429=) c.1200A>T (p.Gly400=) c.1203A>T (p.Gly401=) c.905A>T (n.905A>T) c.*508A>T (n.*508A>T) n.53A>T c.1284A>T (p.Gly428=) c.1197A>T (p.Gly399=) c.1305A>T (p.Gly435=) c.1302A>T (p.Gly434=) c.1221A>T (p.Gly407=) c.1218A>T (p.Gly406=) | dbSNP gnomAD v4 |
X | g.20172812T>C | CA515614082 | RPS6KA3 | c.1287A>G (p.Gly429=) c.1200A>G (p.Gly400=) c.1203A>G (p.Gly401=) c.905A>G (n.905A>G) c.*508A>G (n.*508A>G) n.53A>G c.1284A>G (p.Gly428=) c.1197A>G (p.Gly399=) c.1305A>G (p.Gly435=) c.1302A>G (p.Gly434=) c.1221A>G (p.Gly407=) c.1218A>G (p.Gly406=) | gnomAD v4 |
X | g.20172812T>G | CA515614083 | RPS6KA3 | c.1287A>C (p.Gly429=) c.1200A>C (p.Gly400=) c.1203A>C (p.Gly401=) c.905A>C (n.905A>C) c.*508A>C (n.*508A>C) n.53A>C c.1284A>C (p.Gly428=) c.1197A>C (p.Gly399=) c.1305A>C (p.Gly435=) c.1302A>C (p.Gly434=) c.1221A>C (p.Gly407=) c.1218A>C (p.Gly406=) | |
X | g.20172812T= | CA2418508462 | RPS6KA3 | c.1287A= (p.Gly429=) c.1200A= (p.Gly400=) c.1203A= (p.Gly401=) c.905A= (n.905A=) c.*508A= (n.*508A=) n.53A= c.1284A= (p.Gly428=) c.1197A= (p.Gly399=) c.1305A= (p.Gly435=) c.1302A= (p.Gly434=) c.1221A= (p.Gly407=) c.1218A= (p.Gly406=) | |
X | g.20172813C>A | CA412516334 | RPS6KA3 | c.1286G>T (p.Gly429Val) c.1199G>T (p.Gly400Val) c.1202G>T (p.Gly401Val) c.904G>T (n.904G>T) c.*507G>T (n.*507G>T) n.52G>T c.1283G>T (p.Gly428Val) c.1196G>T (p.Gly399Val) c.1304G>T (p.Gly435Val) c.1301G>T (p.Gly434Val) c.1220G>T (p.Gly407Val) c.1217G>T (p.Gly406Val) | |
X | g.20172813C>G | CA412516339 | RPS6KA3 | c.1286G>C (p.Gly429Ala) c.1199G>C (p.Gly400Ala) c.1202G>C (p.Gly401Ala) c.904G>C (n.904G>C) c.*507G>C (n.*507G>C) n.52G>C c.1283G>C (p.Gly428Ala) c.1196G>C (p.Gly399Ala) c.1304G>C (p.Gly435Ala) c.1301G>C (p.Gly434Ala) c.1220G>C (p.Gly407Ala) c.1217G>C (p.Gly406Ala) | |
X | g.20172813C>T | CA412516323 | RPS6KA3 | c.1286G>A (p.Gly429Glu) c.1199G>A (p.Gly400Glu) c.1202G>A (p.Gly401Glu) c.904G>A (n.904G>A) c.*507G>A (n.*507G>A) n.52G>A c.1283G>A (p.Gly428Glu) c.1196G>A (p.Gly399Glu) c.1304G>A (p.Gly435Glu) c.1301G>A (p.Gly434Glu) c.1220G>A (p.Gly407Glu) c.1217G>A (p.Gly406Glu) | |
X | g.20172814C>A | CA412516347 | RPS6KA3 | c.1285G>T (p.Gly429Ter) c.1198G>T (p.Gly400Ter) c.1201G>T (p.Gly401Ter) c.903G>T (n.903G>T) c.*506G>T (n.*506G>T) n.51G>T c.1282G>T (p.Gly428Ter) c.1195G>T (p.Gly399Ter) c.1303G>T (p.Gly435Ter) c.1300G>T (p.Gly434Ter) c.1219G>T (p.Gly407Ter) c.1216G>T (p.Gly406Ter) | |
X | g.20172814C>G | CA412516348 | RPS6KA3 | c.1285G>C (p.Gly429Arg) c.1198G>C (p.Gly400Arg) c.1201G>C (p.Gly401Arg) c.903G>C (n.903G>C) c.*506G>C (n.*506G>C) n.51G>C c.1282G>C (p.Gly428Arg) c.1195G>C (p.Gly399Arg) c.1303G>C (p.Gly435Arg) c.1300G>C (p.Gly434Arg) c.1219G>C (p.Gly407Arg) c.1216G>C (p.Gly406Arg) | |
X | g.20172814C>T | CA412516349 | RPS6KA3 | c.1285G>A (p.Gly429Arg) c.1198G>A (p.Gly400Arg) c.1201G>A (p.Gly401Arg) c.903G>A (n.903G>A) c.*506G>A (n.*506G>A) n.51G>A c.1282G>A (p.Gly428Arg) c.1195G>A (p.Gly399Arg) c.1303G>A (p.Gly435Arg) c.1300G>A (p.Gly434Arg) c.1219G>A (p.Gly407Arg) c.1216G>A (p.Gly406Arg) | |
X | g.20172815A>C | CA412516350 | RPS6KA3 | c.1284T>G (p.Ile428Met) c.1197T>G (p.Ile399Met) c.1200T>G (p.Ile400Met) c.902T>G (n.902T>G) c.*505T>G (n.*505T>G) n.50T>G c.1281T>G (p.Ile427Met) c.1194T>G (p.Ile398Met) c.1302T>G (p.Ile434Met) c.1299T>G (p.Ile433Met) c.1218T>G (p.Ile406Met) c.1215T>G (p.Ile405Met) | |
X | g.20172815A>G | CA515614086 | RPS6KA3 | c.1284T>C (p.Ile428=) c.1197T>C (p.Ile399=) c.1200T>C (p.Ile400=) c.902T>C (n.902T>C) c.*505T>C (n.*505T>C) n.50T>C c.1281T>C (p.Ile427=) c.1194T>C (p.Ile398=) c.1302T>C (p.Ile434=) c.1299T>C (p.Ile433=) c.1218T>C (p.Ile406=) c.1215T>C (p.Ile405=) | |
X | g.20172815A>T | CA515614085 | RPS6KA3 | c.1284T>A (p.Ile428=) c.1197T>A (p.Ile399=) c.1200T>A (p.Ile400=) c.902T>A (n.902T>A) c.*505T>A (n.*505T>A) n.50T>A c.1281T>A (p.Ile427=) c.1194T>A (p.Ile398=) c.1302T>A (p.Ile434=) c.1299T>A (p.Ile433=) c.1218T>A (p.Ile406=) c.1215T>A (p.Ile405=) | |
X | g.20172816A>C | CA412516351 | RPS6KA3 | c.1283T>G (p.Ile428Ser) c.1196T>G (p.Ile399Ser) c.1199T>G (p.Ile400Ser) c.901T>G (n.901T>G) c.*504T>G (n.*504T>G) n.49T>G c.1280T>G (p.Ile427Ser) c.1193T>G (p.Ile398Ser) c.1301T>G (p.Ile434Ser) c.1298T>G (p.Ile433Ser) c.1217T>G (p.Ile406Ser) c.1214T>G (p.Ile405Ser) | |
X | g.20172816A>G | CA412516354 | RPS6KA3 | c.1283T>C (p.Ile428Thr) c.1196T>C (p.Ile399Thr) c.1199T>C (p.Ile400Thr) c.901T>C (n.901T>C) c.*504T>C (n.*504T>C) n.49T>C c.1280T>C (p.Ile427Thr) c.1193T>C (p.Ile398Thr) c.1301T>C (p.Ile434Thr) c.1298T>C (p.Ile433Thr) c.1217T>C (p.Ile406Thr) c.1214T>C (p.Ile405Thr) | |
X | g.20172816A>T | CA412516361 | RPS6KA3 | c.1283T>A (p.Ile428Asn) c.1196T>A (p.Ile399Asn) c.1199T>A (p.Ile400Asn) c.901T>A (n.901T>A) c.*504T>A (n.*504T>A) n.49T>A c.1280T>A (p.Ile427Asn) c.1193T>A (p.Ile398Asn) c.1301T>A (p.Ile434Asn) c.1298T>A (p.Ile433Asn) c.1217T>A (p.Ile406Asn) c.1214T>A (p.Ile405Asn) | |
X | g.20172817T>A | CA412516366 | RPS6KA3 | c.1282A>T (p.Ile428Phe) c.1195A>T (p.Ile399Phe) c.1198A>T (p.Ile400Phe) c.900A>T (n.900A>T) c.*503A>T (n.*503A>T) n.48A>T c.1279A>T (p.Ile427Phe) c.1192A>T (p.Ile398Phe) c.1300A>T (p.Ile434Phe) c.1297A>T (p.Ile433Phe) c.1216A>T (p.Ile406Phe) c.1213A>T (p.Ile405Phe) | |
X | g.20172817T>C | CA412516368 | RPS6KA3 | c.1282A>G (p.Ile428Val) c.1195A>G (p.Ile399Val) c.1198A>G (p.Ile400Val) c.900A>G (n.900A>G) c.*503A>G (n.*503A>G) n.48A>G c.1279A>G (p.Ile427Val) c.1192A>G (p.Ile398Val) c.1300A>G (p.Ile434Val) c.1297A>G (p.Ile433Val) c.1216A>G (p.Ile406Val) c.1213A>G (p.Ile405Val) | |
X | g.20172817T>G | CA412516372 | RPS6KA3 | c.1282A>C (p.Ile428Leu) c.1195A>C (p.Ile399Leu) c.1198A>C (p.Ile400Leu) c.900A>C (n.900A>C) c.*503A>C (n.*503A>C) n.48A>C c.1279A>C (p.Ile427Leu) c.1192A>C (p.Ile398Leu) c.1300A>C (p.Ile434Leu) c.1297A>C (p.Ile433Leu) c.1216A>C (p.Ile406Leu) c.1213A>C (p.Ile405Leu) | |
X | g.20172818A>C | CA412516385 | RPS6KA3 | c.1281T>G (p.Asp427Glu) c.1194T>G (p.Asp398Glu) c.1197T>G (p.Asp399Glu) c.899T>G (n.899T>G) c.*502T>G (n.*502T>G) n.47T>G c.1278T>G (p.Asp426Glu) c.1191T>G (p.Asp397Glu) c.1299T>G (p.Asp433Glu) c.1296T>G (p.Asp432Glu) c.1215T>G (p.Asp405Glu) c.1212T>G (p.Asp404Glu) | |
X | g.20172818A>G | CA515614087 | RPS6KA3 | c.1281T>C (p.Asp427=) c.1194T>C (p.Asp398=) c.1197T>C (p.Asp399=) c.899T>C (n.899T>C) c.*502T>C (n.*502T>C) n.47T>C c.1278T>C (p.Asp426=) c.1191T>C (p.Asp397=) c.1299T>C (p.Asp433=) c.1296T>C (p.Asp432=) c.1215T>C (p.Asp405=) c.1212T>C (p.Asp404=) | |
X | g.20172818A>T | CA412516386 | RPS6KA3 | c.1281T>A (p.Asp427Glu) c.1194T>A (p.Asp398Glu) c.1197T>A (p.Asp399Glu) c.899T>A (n.899T>A) c.*502T>A (n.*502T>A) n.47T>A c.1278T>A (p.Asp426Glu) c.1191T>A (p.Asp397Glu) c.1299T>A (p.Asp433Glu) c.1296T>A (p.Asp432Glu) c.1215T>A (p.Asp405Glu) c.1212T>A (p.Asp404Glu) | |
X | g.20172819T>A | CA412516388 | RPS6KA3 | c.1280A>T (p.Asp427Val) c.1193A>T (p.Asp398Val) c.1196A>T (p.Asp399Val) c.898A>T (n.898A>T) c.*501A>T (n.*501A>T) n.46A>T c.1277A>T (p.Asp426Val) c.1190A>T (p.Asp397Val) c.1298A>T (p.Asp433Val) c.1295A>T (p.Asp432Val) c.1214A>T (p.Asp405Val) c.1211A>T (p.Asp404Val) | |
X | g.20172819T>C | CA412516389 | RPS6KA3 | c.1280A>G (p.Asp427Gly) c.1193A>G (p.Asp398Gly) c.1196A>G (p.Asp399Gly) c.898A>G (n.898A>G) c.*501A>G (n.*501A>G) n.46A>G c.1277A>G (p.Asp426Gly) c.1190A>G (p.Asp397Gly) c.1298A>G (p.Asp433Gly) c.1295A>G (p.Asp432Gly) c.1214A>G (p.Asp405Gly) c.1211A>G (p.Asp404Gly) | |
X | g.20172819T>G | CA412516387 | RPS6KA3 | c.1280A>C (p.Asp427Ala) c.1193A>C (p.Asp398Ala) c.1196A>C (p.Asp399Ala) c.898A>C (n.898A>C) c.*501A>C (n.*501A>C) n.46A>C c.1277A>C (p.Asp426Ala) c.1190A>C (p.Asp397Ala) c.1298A>C (p.Asp433Ala) c.1295A>C (p.Asp432Ala) c.1214A>C (p.Asp405Ala) c.1211A>C (p.Asp404Ala) | |
X | g.20172820C>A | CA412516391 | RPS6KA3 | c.1279G>T (p.Asp427Tyr) c.1192G>T (p.Asp398Tyr) c.1195G>T (p.Asp399Tyr) c.897G>T (n.897G>T) c.*500G>T (n.*500G>T) n.45G>T c.1276G>T (p.Asp426Tyr) c.1189G>T (p.Asp397Tyr) c.1297G>T (p.Asp433Tyr) c.1294G>T (p.Asp432Tyr) c.1213G>T (p.Asp405Tyr) c.1210G>T (p.Asp404Tyr) | |
X | g.20172820C>G | CA412516392 | RPS6KA3 | c.1279G>C (p.Asp427His) c.1192G>C (p.Asp398His) c.1195G>C (p.Asp399His) c.897G>C (n.897G>C) c.*500G>C (n.*500G>C) n.45G>C c.1276G>C (p.Asp426His) c.1189G>C (p.Asp397His) c.1297G>C (p.Asp433His) c.1294G>C (p.Asp432His) c.1213G>C (p.Asp405His) c.1210G>C (p.Asp404His) | |
X | g.20172820C>T | CA412516393 | RPS6KA3 | c.1279G>A (p.Asp427Asn) c.1192G>A (p.Asp398Asn) c.1195G>A (p.Asp399Asn) c.897G>A (n.897G>A) c.*500G>A (n.*500G>A) n.45G>A c.1276G>A (p.Asp426Asn) c.1189G>A (p.Asp397Asn) c.1297G>A (p.Asp433Asn) c.1294G>A (p.Asp432Asn) c.1213G>A (p.Asp405Asn) c.1210G>A (p.Asp404Asn) | |
X | g.20172821T>A | CA412516394 | RPS6KA3 | c.1278A>T (p.Glu426Asp) c.1191A>T (p.Glu397Asp) c.1194A>T (p.Glu398Asp) c.896A>T (n.896A>T) c.*499A>T (n.*499A>T) n.44A>T c.1275A>T (p.Glu425Asp) c.1188A>T (p.Glu396Asp) c.1296A>T (p.Glu432Asp) c.1293A>T (p.Glu431Asp) c.1212A>T (p.Glu404Asp) c.1209A>T (p.Glu403Asp) | |
X | g.20172821T>C | CA515614088 | RPS6KA3 | c.1278A>G (p.Glu426=) c.1191A>G (p.Glu397=) c.1194A>G (p.Glu398=) c.896A>G (n.896A>G) c.*499A>G (n.*499A>G) n.44A>G c.1275A>G (p.Glu425=) c.1188A>G (p.Glu396=) c.1296A>G (p.Glu432=) c.1293A>G (p.Glu431=) c.1212A>G (p.Glu404=) c.1209A>G (p.Glu403=) | |
X | g.20172821T>G | CA412516396 | RPS6KA3 | c.1278A>C (p.Glu426Asp) c.1191A>C (p.Glu397Asp) c.1194A>C (p.Glu398Asp) c.896A>C (n.896A>C) c.*499A>C (n.*499A>C) n.44A>C c.1275A>C (p.Glu425Asp) c.1188A>C (p.Glu396Asp) c.1296A>C (p.Glu432Asp) c.1293A>C (p.Glu431Asp) c.1212A>C (p.Glu404Asp) c.1209A>C (p.Glu403Asp) | |
X | g.20172822T>A | CA412516403 | RPS6KA3 | c.1277A>T (p.Glu426Val) c.1190A>T (p.Glu397Val) c.1193A>T (p.Glu398Val) c.895A>T (n.895A>T) c.*498A>T (n.*498A>T) n.43A>T c.1274A>T (p.Glu425Val) c.1187A>T (p.Glu396Val) c.1295A>T (p.Glu432Val) c.1292A>T (p.Glu431Val) c.1211A>T (p.Glu404Val) c.1208A>T (p.Glu403Val) | |
X | g.20172822T>C | CA412516398 | RPS6KA3 | c.1277A>G (p.Glu426Gly) c.1190A>G (p.Glu397Gly) c.1193A>G (p.Glu398Gly) c.895A>G (n.895A>G) c.*498A>G (n.*498A>G) n.43A>G c.1274A>G (p.Glu425Gly) c.1187A>G (p.Glu396Gly) c.1295A>G (p.Glu432Gly) c.1292A>G (p.Glu431Gly) c.1211A>G (p.Glu404Gly) c.1208A>G (p.Glu403Gly) | |
X | g.20172822T>G | CA412516402 | RPS6KA3 | c.1277A>C (p.Glu426Ala) c.1190A>C (p.Glu397Ala) c.1193A>C (p.Glu398Ala) c.895A>C (n.895A>C) c.*498A>C (n.*498A>C) n.43A>C c.1274A>C (p.Glu425Ala) c.1187A>C (p.Glu396Ala) c.1295A>C (p.Glu432Ala) c.1292A>C (p.Glu431Ala) c.1211A>C (p.Glu404Ala) c.1208A>C (p.Glu403Ala) | |
X | g.20172823C>A | CA412516404 | RPS6KA3 | c.1276G>T (p.Glu426Ter) c.1189G>T (p.Glu397Ter) c.1192G>T (p.Glu398Ter) c.894G>T (n.894G>T) c.*497G>T (n.*497G>T) n.42G>T c.1273G>T (p.Glu425Ter) c.1186G>T (p.Glu396Ter) c.1294G>T (p.Glu432Ter) c.1291G>T (p.Glu431Ter) c.1210G>T (p.Glu404Ter) c.1207G>T (p.Glu403Ter) | |
X | g.20172823C>G | CA412516407 | RPS6KA3 | c.1276G>C (p.Glu426Gln) c.1189G>C (p.Glu397Gln) c.1192G>C (p.Glu398Gln) c.894G>C (n.894G>C) c.*497G>C (n.*497G>C) n.42G>C c.1273G>C (p.Glu425Gln) c.1186G>C (p.Glu396Gln) c.1294G>C (p.Glu432Gln) c.1291G>C (p.Glu431Gln) c.1210G>C (p.Glu404Gln) c.1207G>C (p.Glu403Gln) | |
X | g.20172823C>T | CA412516408 | RPS6KA3 | c.1276G>A (p.Glu426Lys) c.1189G>A (p.Glu397Lys) c.1192G>A (p.Glu398Lys) c.894G>A (n.894G>A) c.*497G>A (n.*497G>A) n.42G>A c.1273G>A (p.Glu425Lys) c.1186G>A (p.Glu396Lys) c.1294G>A (p.Glu432Lys) c.1291G>A (p.Glu431Lys) c.1210G>A (p.Glu404Lys) c.1207G>A (p.Glu403Lys) | |
X | g.20172824T>A | CA412516412 | RPS6KA3 | c.1275A>T (p.Lys425Asn) c.1188A>T (p.Lys396Asn) c.1191A>T (p.Lys397Asn) c.893A>T (n.893A>T) c.*496A>T (n.*496A>T) n.41A>T c.1272A>T (p.Lys424Asn) c.1185A>T (p.Lys395Asn) c.1293A>T (p.Lys431Asn) c.1290A>T (p.Lys430Asn) c.1209A>T (p.Lys403Asn) c.1206A>T (p.Lys402Asn) | |
X | g.20172824T>C | CA10366136 | RPS6KA3 | c.1275A>G (p.Lys425=) c.1188A>G (p.Lys396=) c.1191A>G (p.Lys397=) c.893A>G (n.893A>G) c.*496A>G (n.*496A>G) n.41A>G c.1272A>G (p.Lys424=) c.1185A>G (p.Lys395=) c.1293A>G (p.Lys431=) c.1290A>G (p.Lys430=) c.1209A>G (p.Lys403=) c.1206A>G (p.Lys402=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20172824T>G | CA412516415 | RPS6KA3 | c.1275A>C (p.Lys425Asn) c.1188A>C (p.Lys396Asn) c.1191A>C (p.Lys397Asn) c.893A>C (n.893A>C) c.*496A>C (n.*496A>C) n.41A>C c.1272A>C (p.Lys424Asn) c.1185A>C (p.Lys395Asn) c.1293A>C (p.Lys431Asn) c.1290A>C (p.Lys430Asn) c.1209A>C (p.Lys403Asn) c.1206A>C (p.Lys402Asn) | |
X | g.20172824T= | CA2418508463 | RPS6KA3 | c.1275A= (p.Lys425=) c.1188A= (p.Lys396=) c.1191A= (p.Lys397=) c.893A= (n.893A=) c.*496A= (n.*496A=) n.41A= c.1272A= (p.Lys424=) c.1185A= (p.Lys395=) c.1293A= (p.Lys431=) c.1290A= (p.Lys430=) c.1209A= (p.Lys403=) c.1206A= (p.Lys402=) | |
X | g.20172827del | CA2579569371 | RPS6KA3 | c.1275del (p.Glu426LysfsTer25) c.1188del (p.Glu397LysfsTer25) c.1191del (p.Glu398LysfsTer25) c.893del (n.893del) c.*496del (n.*496del) n.41del c.1272del (p.Glu425LysfsTer25) c.1185del (p.Glu396LysfsTer25) c.1293del (p.Glu432LysfsTer25) c.1290del (p.Glu431LysfsTer25) c.1209del (p.Glu404LysfsTer25) c.1206del (p.Glu403LysfsTer25) | |
X | g.20172826_20172827del | CA2819964415 | RPS6KA3 | c.1274_1275del (p.Lys425ArgfsTer17) c.1187_1188del (p.Lys396ArgfsTer17) c.1190_1191del (p.Lys397ArgfsTer17) c.892_893del (n.892_893del) c.*495_*496del (n.*495_*496del) n.40_41del c.1271_1272del (p.Lys424ArgfsTer17) c.1184_1185del (p.Lys395ArgfsTer17) c.1292_1293del (p.Lys431ArgfsTer17) c.1289_1290del (p.Lys430ArgfsTer17) c.1208_1209del (p.Lys403ArgfsTer17) c.1205_1206del (p.Lys402ArgfsTer17) | |
X | g.20172825T>A | CA412516434 | RPS6KA3 | c.1274A>T (p.Lys425Ile) c.1187A>T (p.Lys396Ile) c.1190A>T (p.Lys397Ile) c.892A>T (n.892A>T) c.*495A>T (n.*495A>T) n.40A>T c.1271A>T (p.Lys424Ile) c.1184A>T (p.Lys395Ile) c.1292A>T (p.Lys431Ile) c.1289A>T (p.Lys430Ile) c.1208A>T (p.Lys403Ile) c.1205A>T (p.Lys402Ile) | |
X | g.20172825T>C | CA412516420 | RPS6KA3 | c.1274A>G (p.Lys425Arg) c.1187A>G (p.Lys396Arg) c.1190A>G (p.Lys397Arg) c.892A>G (n.892A>G) c.*495A>G (n.*495A>G) n.40A>G c.1271A>G (p.Lys424Arg) c.1184A>G (p.Lys395Arg) c.1292A>G (p.Lys431Arg) c.1289A>G (p.Lys430Arg) c.1208A>G (p.Lys403Arg) c.1205A>G (p.Lys402Arg) | |
X | g.20172825T>G | CA412516417 | RPS6KA3 | c.1274A>C (p.Lys425Thr) c.1187A>C (p.Lys396Thr) c.1190A>C (p.Lys397Thr) c.892A>C (n.892A>C) c.*495A>C (n.*495A>C) n.40A>C c.1271A>C (p.Lys424Thr) c.1184A>C (p.Lys395Thr) c.1292A>C (p.Lys431Thr) c.1289A>C (p.Lys430Thr) c.1208A>C (p.Lys403Thr) c.1205A>C (p.Lys402Thr) | |
X | g.20172826T>A | CA412516440 | RPS6KA3 | c.1273A>T (p.Lys425Ter) c.1186A>T (p.Lys396Ter) c.1189A>T (p.Lys397Ter) c.891A>T (n.891A>T) c.*494A>T (n.*494A>T) n.39A>T c.1270A>T (p.Lys424Ter) c.1183A>T (p.Lys395Ter) c.1291A>T (p.Lys431Ter) c.1288A>T (p.Lys430Ter) c.1207A>T (p.Lys403Ter) c.1204A>T (p.Lys402Ter) | |
X | g.20172826T>C | CA412516439 | RPS6KA3 | c.1273A>G (p.Lys425Glu) c.1186A>G (p.Lys396Glu) c.1189A>G (p.Lys397Glu) c.891A>G (n.891A>G) c.*494A>G (n.*494A>G) n.39A>G c.1270A>G (p.Lys424Glu) c.1183A>G (p.Lys395Glu) c.1291A>G (p.Lys431Glu) c.1288A>G (p.Lys430Glu) c.1207A>G (p.Lys403Glu) c.1204A>G (p.Lys402Glu) | |
X | g.20172826T>G | CA412516441 | RPS6KA3 | c.1273A>C (p.Lys425Gln) c.1186A>C (p.Lys396Gln) c.1189A>C (p.Lys397Gln) c.891A>C (n.891A>C) c.*494A>C (n.*494A>C) n.39A>C c.1270A>C (p.Lys424Gln) c.1183A>C (p.Lys395Gln) c.1291A>C (p.Lys431Gln) c.1288A>C (p.Lys430Gln) c.1207A>C (p.Lys403Gln) c.1204A>C (p.Lys402Gln) | |
X | g.20172827T>A | CA515614090 | RPS6KA3 | c.1272A>T (p.Val424=) c.1185A>T (p.Val395=) c.1188A>T (p.Val396=) c.890A>T (n.890A>T) c.*493A>T (n.*493A>T) n.38A>T c.1269A>T (p.Val423=) c.1182A>T (p.Val394=) c.1290A>T (p.Val430=) c.1287A>T (p.Val429=) c.1206A>T (p.Val402=) c.1203A>T (p.Val401=) | |
X | g.20172827T>C | CA515614091 | RPS6KA3 | c.1272A>G (p.Val424=) c.1185A>G (p.Val395=) c.1188A>G (p.Val396=) c.890A>G (n.890A>G) c.*493A>G (n.*493A>G) n.38A>G c.1269A>G (p.Val423=) c.1182A>G (p.Val394=) c.1290A>G (p.Val430=) c.1287A>G (p.Val429=) c.1206A>G (p.Val402=) c.1203A>G (p.Val401=) | |
X | g.20172827T>G | CA515614092 | RPS6KA3 | c.1272A>C (p.Val424=) c.1185A>C (p.Val395=) c.1188A>C (p.Val396=) c.890A>C (n.890A>C) c.*493A>C (n.*493A>C) n.38A>C c.1269A>C (p.Val423=) c.1182A>C (p.Val394=) c.1290A>C (p.Val430=) c.1287A>C (p.Val429=) c.1206A>C (p.Val402=) c.1203A>C (p.Val401=) |