Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.20164981T>A | CA412514177 | RPS6KA3 | c.1682A>T (p.Asp561Val) c.1595A>T (p.Asp532Val) c.1598A>T (p.Asp533Val) c.1300A>T (n.1300A>T) c.*903A>T (n.*903A>T) n.369-20A>T c.1679A>T (p.Asp560Val) c.1592A>T (p.Asp531Val) c.1700A>T (p.Asp567Val) c.1697A>T (p.Asp566Val) c.1616A>T (p.Asp539Val) c.1613A>T (p.Asp538Val) | |
X | g.20164981T>C | CA412514178 | RPS6KA3 | c.1682A>G (p.Asp561Gly) c.1595A>G (p.Asp532Gly) c.1598A>G (p.Asp533Gly) c.1300A>G (n.1300A>G) c.*903A>G (n.*903A>G) n.369-20A>G c.1679A>G (p.Asp560Gly) c.1592A>G (p.Asp531Gly) c.1700A>G (p.Asp567Gly) c.1697A>G (p.Asp566Gly) c.1616A>G (p.Asp539Gly) c.1613A>G (p.Asp538Gly) | |
X | g.20164981T>G | CA412514179 | RPS6KA3 | c.1682A>C (p.Asp561Ala) c.1595A>C (p.Asp532Ala) c.1598A>C (p.Asp533Ala) c.1300A>C (n.1300A>C) c.*903A>C (n.*903A>C) n.369-20A>C c.1679A>C (p.Asp560Ala) c.1592A>C (p.Asp531Ala) c.1700A>C (p.Asp567Ala) c.1697A>C (p.Asp566Ala) c.1616A>C (p.Asp539Ala) c.1613A>C (p.Asp538Ala) | |
X | g.20164982C>A | CA412514180 | RPS6KA3 | c.1681G>T (p.Asp561Tyr) c.1594G>T (p.Asp532Tyr) c.1597G>T (p.Asp533Tyr) c.1299G>T (n.1299G>T) c.*902G>T (n.*902G>T) n.369-21G>T c.1678G>T (p.Asp560Tyr) c.1591G>T (p.Asp531Tyr) c.1699G>T (p.Asp567Tyr) c.1696G>T (p.Asp566Tyr) c.1615G>T (p.Asp539Tyr) c.1612G>T (p.Asp538Tyr) | |
X | g.20164982C>G | CA412514182 | RPS6KA3 | c.1681G>C (p.Asp561His) c.1594G>C (p.Asp532His) c.1597G>C (p.Asp533His) c.1299G>C (n.1299G>C) c.*902G>C (n.*902G>C) n.369-21G>C c.1678G>C (p.Asp560His) c.1591G>C (p.Asp531His) c.1699G>C (p.Asp567His) c.1696G>C (p.Asp566His) c.1615G>C (p.Asp539His) c.1612G>C (p.Asp538His) | |
X | g.20164982C>T | CA412514181 | RPS6KA3 | c.1681G>A (p.Asp561Asn) c.1594G>A (p.Asp532Asn) c.1597G>A (p.Asp533Asn) c.1299G>A (n.1299G>A) c.*902G>A (n.*902G>A) n.369-21G>A c.1678G>A (p.Asp560Asn) c.1591G>A (p.Asp531Asn) c.1699G>A (p.Asp567Asn) c.1696G>A (p.Asp566Asn) c.1615G>A (p.Asp539Asn) c.1612G>A (p.Asp538Asn) | |
X | g.20164983A>C | CA412514183 | RPS6KA3 | c.1680T>G (p.Cys560Trp) c.1593T>G (p.Cys531Trp) c.1596T>G (p.Cys532Trp) c.1298T>G (n.1298T>G) c.*901T>G (n.*901T>G) n.369-22T>G c.1677T>G (p.Cys559Trp) c.1590T>G (p.Cys530Trp) c.1698T>G (p.Cys566Trp) c.1695T>G (p.Cys565Trp) c.1614T>G (p.Cys538Trp) c.1611T>G (p.Cys537Trp) | |
X | g.20164983A>G | CA515613780 | RPS6KA3 | c.1680T>C (p.Cys560=) c.1593T>C (p.Cys531=) c.1596T>C (p.Cys532=) c.1298T>C (n.1298T>C) c.*901T>C (n.*901T>C) n.369-22T>C c.1677T>C (p.Cys559=) c.1590T>C (p.Cys530=) c.1698T>C (p.Cys566=) c.1695T>C (p.Cys565=) c.1614T>C (p.Cys538=) c.1611T>C (p.Cys537=) | |
X | g.20164983A>T | CA412514184 | RPS6KA3 | c.1680T>A (p.Cys560Ter) c.1593T>A (p.Cys531Ter) c.1596T>A (p.Cys532Ter) c.1298T>A (n.1298T>A) c.*901T>A (n.*901T>A) n.369-22T>A c.1677T>A (p.Cys559Ter) c.1590T>A (p.Cys530Ter) c.1698T>A (p.Cys566Ter) c.1695T>A (p.Cys565Ter) c.1614T>A (p.Cys538Ter) c.1611T>A (p.Cys537Ter) | |
X | g.20164984C>A | CA412514185 | RPS6KA3 | c.1679G>T (p.Cys560Phe) c.1592G>T (p.Cys531Phe) c.1595G>T (p.Cys532Phe) c.1297G>T (n.1297G>T) c.*900G>T (n.*900G>T) n.369-23G>T c.1676G>T (p.Cys559Phe) c.1589G>T (p.Cys530Phe) c.1697G>T (p.Cys566Phe) c.1694G>T (p.Cys565Phe) c.1613G>T (p.Cys538Phe) c.1610G>T (p.Cys537Phe) | |
X | g.20164984C>G | CA412514186 | RPS6KA3 | c.1679G>C (p.Cys560Ser) c.1592G>C (p.Cys531Ser) c.1595G>C (p.Cys532Ser) c.1297G>C (n.1297G>C) c.*900G>C (n.*900G>C) n.369-23G>C c.1676G>C (p.Cys559Ser) c.1589G>C (p.Cys530Ser) c.1697G>C (p.Cys566Ser) c.1694G>C (p.Cys565Ser) c.1613G>C (p.Cys538Ser) c.1610G>C (p.Cys537Ser) | |
X | g.20164984C>T | CA412514187 | RPS6KA3 | c.1679G>A (p.Cys560Tyr) c.1592G>A (p.Cys531Tyr) c.1595G>A (p.Cys532Tyr) c.1297G>A (n.1297G>A) c.*900G>A (n.*900G>A) n.369-23G>A c.1676G>A (p.Cys559Tyr) c.1589G>A (p.Cys530Tyr) c.1697G>A (p.Cys566Tyr) c.1694G>A (p.Cys565Tyr) c.1613G>A (p.Cys538Tyr) c.1610G>A (p.Cys537Tyr) | ClinVar |
X | g.20164985A= | CA2418505968 | RPS6KA3 | c.1678T= (p.Cys560=) c.1591T= (p.Cys531=) c.1594T= (p.Cys532=) c.1296T= (n.1296T=) c.*899T= (n.*899T=) n.369-24T= c.1675T= (p.Cys559=) c.1588T= (p.Cys530=) c.1696T= (p.Cys566=) c.1693T= (p.Cys565=) c.1612T= (p.Cys538=) c.1609T= (p.Cys537=) | |
X | g.20164985A>C | CA412514188 | RPS6KA3 | c.1678T>G (p.Cys560Gly) c.1591T>G (p.Cys531Gly) c.1594T>G (p.Cys532Gly) c.1296T>G (n.1296T>G) c.*899T>G (n.*899T>G) n.369-24T>G c.1675T>G (p.Cys559Gly) c.1588T>G (p.Cys530Gly) c.1696T>G (p.Cys566Gly) c.1693T>G (p.Cys565Gly) c.1612T>G (p.Cys538Gly) c.1609T>G (p.Cys537Gly) | |
X | g.20164985A>G | CA412514189 | RPS6KA3 | c.1678T>C (p.Cys560Arg) c.1591T>C (p.Cys531Arg) c.1594T>C (p.Cys532Arg) c.1296T>C (n.1296T>C) c.*899T>C (n.*899T>C) n.369-24T>C c.1675T>C (p.Cys559Arg) c.1588T>C (p.Cys530Arg) c.1696T>C (p.Cys566Arg) c.1693T>C (p.Cys565Arg) c.1612T>C (p.Cys538Arg) c.1609T>C (p.Cys537Arg) | ClinVar dbSNP |
X | g.20164985A>T | CA412514190 | RPS6KA3 | c.1678T>A (p.Cys560Ser) c.1591T>A (p.Cys531Ser) c.1594T>A (p.Cys532Ser) c.1296T>A (n.1296T>A) c.*899T>A (n.*899T>A) n.369-24T>A c.1675T>A (p.Cys559Ser) c.1588T>A (p.Cys530Ser) c.1696T>A (p.Cys566Ser) c.1693T>A (p.Cys565Ser) c.1612T>A (p.Cys538Ser) c.1609T>A (p.Cys537Ser) | |
X | g.20164986A>C | CA412514191 | RPS6KA3 | c.1677T>G (p.Ile559Met) c.1590T>G (p.Ile530Met) c.1593T>G (p.Ile531Met) c.1295T>G (n.1295T>G) c.*898T>G (n.*898T>G) n.369-25T>G c.1674T>G (p.Ile558Met) c.1587T>G (p.Ile529Met) c.1695T>G (p.Ile565Met) c.1692T>G (p.Ile564Met) c.1611T>G (p.Ile537Met) c.1608T>G (p.Ile536Met) | |
X | g.20164986A>G | CA515613781 | RPS6KA3 | c.1677T>C (p.Ile559=) c.1590T>C (p.Ile530=) c.1593T>C (p.Ile531=) c.1295T>C (n.1295T>C) c.*898T>C (n.*898T>C) n.369-25T>C c.1674T>C (p.Ile558=) c.1587T>C (p.Ile529=) c.1695T>C (p.Ile565=) c.1692T>C (p.Ile564=) c.1611T>C (p.Ile537=) c.1608T>C (p.Ile536=) | |
X | g.20164986A>T | CA515613782 | RPS6KA3 | c.1677T>A (p.Ile559=) c.1590T>A (p.Ile530=) c.1593T>A (p.Ile531=) c.1295T>A (n.1295T>A) c.*898T>A (n.*898T>A) n.369-25T>A c.1674T>A (p.Ile558=) c.1587T>A (p.Ile529=) c.1695T>A (p.Ile565=) c.1692T>A (p.Ile564=) c.1611T>A (p.Ile537=) c.1608T>A (p.Ile536=) | |
X | g.20164987A>C | CA412514192 | RPS6KA3 | c.1676T>G (p.Ile559Ser) c.1589T>G (p.Ile530Ser) c.1592T>G (p.Ile531Ser) c.1294T>G (n.1294T>G) c.*897T>G (n.*897T>G) n.369-26T>G c.1673T>G (p.Ile558Ser) c.1586T>G (p.Ile529Ser) c.1694T>G (p.Ile565Ser) c.1691T>G (p.Ile564Ser) c.1610T>G (p.Ile537Ser) c.1607T>G (p.Ile536Ser) | |
X | g.20164987A>G | CA412514193 | RPS6KA3 | c.1676T>C (p.Ile559Thr) c.1589T>C (p.Ile530Thr) c.1592T>C (p.Ile531Thr) c.1294T>C (n.1294T>C) c.*897T>C (n.*897T>C) n.369-26T>C c.1673T>C (p.Ile558Thr) c.1586T>C (p.Ile529Thr) c.1694T>C (p.Ile565Thr) c.1691T>C (p.Ile564Thr) c.1610T>C (p.Ile537Thr) c.1607T>C (p.Ile536Thr) | |
X | g.20164987A>T | CA412514194 | RPS6KA3 | c.1676T>A (p.Ile559Asn) c.1589T>A (p.Ile530Asn) c.1592T>A (p.Ile531Asn) c.1294T>A (n.1294T>A) c.*897T>A (n.*897T>A) n.369-26T>A c.1673T>A (p.Ile558Asn) c.1586T>A (p.Ile529Asn) c.1694T>A (p.Ile565Asn) c.1691T>A (p.Ile564Asn) c.1610T>A (p.Ile537Asn) c.1607T>A (p.Ile536Asn) | |
X | g.20164988T>A | CA412514195 | RPS6KA3 | c.1675A>T (p.Ile559Phe) c.1588A>T (p.Ile530Phe) c.1591A>T (p.Ile531Phe) c.1293A>T (n.1293A>T) c.*896A>T (n.*896A>T) n.369-27A>T c.1672A>T (p.Ile558Phe) c.1585A>T (p.Ile529Phe) c.1693A>T (p.Ile565Phe) c.1690A>T (p.Ile564Phe) c.1609A>T (p.Ile537Phe) c.1606A>T (p.Ile536Phe) | |
X | g.20164988T>C | CA412514197 | RPS6KA3 | c.1675A>G (p.Ile559Val) c.1588A>G (p.Ile530Val) c.1591A>G (p.Ile531Val) c.1293A>G (n.1293A>G) c.*896A>G (n.*896A>G) n.369-27A>G c.1672A>G (p.Ile558Val) c.1585A>G (p.Ile529Val) c.1693A>G (p.Ile565Val) c.1690A>G (p.Ile564Val) c.1609A>G (p.Ile537Val) c.1606A>G (p.Ile536Val) | |
X | g.20164988T>G | CA412514196 | RPS6KA3 | c.1675A>C (p.Ile559Leu) c.1588A>C (p.Ile530Leu) c.1591A>C (p.Ile531Leu) c.1293A>C (n.1293A>C) c.*896A>C (n.*896A>C) n.369-27A>C c.1672A>C (p.Ile558Leu) c.1585A>C (p.Ile529Leu) c.1693A>C (p.Ile565Leu) c.1690A>C (p.Ile564Leu) c.1609A>C (p.Ile537Leu) c.1606A>C (p.Ile536Leu) | |
X | g.20164989T>A | CA515613784 | RPS6KA3 | c.1674A>T (p.Arg558=) c.1587A>T (p.Arg529=) c.1590A>T (p.Arg530=) c.1292A>T (n.1292A>T) c.*895A>T (n.*895A>T) n.369-28A>T c.1671A>T (p.Arg557=) c.1584A>T (p.Arg528=) c.1692A>T (p.Arg564=) c.1689A>T (p.Arg563=) c.1608A>T (p.Arg536=) c.1605A>T (p.Arg535=) | |
X | g.20164989T>C | CA515613786 | RPS6KA3 | c.1674A>G (p.Arg558=) c.1587A>G (p.Arg529=) c.1590A>G (p.Arg530=) c.1292A>G (n.1292A>G) c.*895A>G (n.*895A>G) n.369-28A>G c.1671A>G (p.Arg557=) c.1584A>G (p.Arg528=) c.1692A>G (p.Arg564=) c.1689A>G (p.Arg563=) c.1608A>G (p.Arg536=) c.1605A>G (p.Arg535=) | |
X | g.20164989T>G | CA515613785 | RPS6KA3 | c.1674A>C (p.Arg558=) c.1587A>C (p.Arg529=) c.1590A>C (p.Arg530=) c.1292A>C (n.1292A>C) c.*895A>C (n.*895A>C) n.369-28A>C c.1671A>C (p.Arg557=) c.1584A>C (p.Arg528=) c.1692A>C (p.Arg564=) c.1689A>C (p.Arg563=) c.1608A>C (p.Arg536=) c.1605A>C (p.Arg535=) | |
X | g.20164990C>A | CA412514198 | RPS6KA3 | c.1673G>T (p.Arg558Leu) c.1586G>T (p.Arg529Leu) c.1589G>T (p.Arg530Leu) c.1291G>T (n.1291G>T) c.*894G>T (n.*894G>T) n.369-29G>T c.1670G>T (p.Arg557Leu) c.1583G>T (p.Arg528Leu) c.1691G>T (p.Arg564Leu) c.1688G>T (p.Arg563Leu) c.1607G>T (p.Arg536Leu) c.1604G>T (p.Arg535Leu) | |
X | g.20164990C= | CA2418505969 | RPS6KA3 | c.1673G= (p.Arg558=) c.1586G= (p.Arg529=) c.1589G= (p.Arg530=) c.1291G= (n.1291G=) c.*894G= (n.*894G=) n.369-29G= c.1670G= (p.Arg557=) c.1583G= (p.Arg528=) c.1691G= (p.Arg564=) c.1688G= (p.Arg563=) c.1607G= (p.Arg536=) c.1604G= (p.Arg535=) | |
X | g.20164990C>G | CA412514199 | RPS6KA3 | c.1673G>C (p.Arg558Pro) c.1586G>C (p.Arg529Pro) c.1589G>C (p.Arg530Pro) c.1291G>C (n.1291G>C) c.*894G>C (n.*894G>C) n.369-29G>C c.1670G>C (p.Arg557Pro) c.1583G>C (p.Arg528Pro) c.1691G>C (p.Arg564Pro) c.1688G>C (p.Arg563Pro) c.1607G>C (p.Arg536Pro) c.1604G>C (p.Arg535Pro) | |
X | g.20164990C>T | CA412514200 | RPS6KA3 | c.1673G>A (p.Arg558Gln) c.1586G>A (p.Arg529Gln) c.1589G>A (p.Arg530Gln) c.1291G>A (n.1291G>A) c.*894G>A (n.*894G>A) n.369-29G>A c.1670G>A (p.Arg557Gln) c.1583G>A (p.Arg528Gln) c.1691G>A (p.Arg564Gln) c.1688G>A (p.Arg563Gln) c.1607G>A (p.Arg536Gln) c.1604G>A (p.Arg535Gln) | dbSNP gnomAD v2 gnomAD v4 |
X | g.20164991G>A | CA412514201 | RPS6KA3 | c.1672C>T (p.Arg558Ter) c.1585C>T (p.Arg529Ter) c.1588C>T (p.Arg530Ter) c.1290C>T (n.1290C>T) c.*893C>T (n.*893C>T) n.369-30C>T c.1669C>T (p.Arg557Ter) c.1582C>T (p.Arg528Ter) c.1690C>T (p.Arg564Ter) c.1687C>T (p.Arg563Ter) c.1606C>T (p.Arg536Ter) c.1603C>T (p.Arg535Ter) | ClinVar COSMIC |
X | g.20164991G>C | CA412514202 | RPS6KA3 | c.1672C>G (p.Arg558Gly) c.1585C>G (p.Arg529Gly) c.1588C>G (p.Arg530Gly) c.1290C>G (n.1290C>G) c.*893C>G (n.*893C>G) n.369-30C>G c.1669C>G (p.Arg557Gly) c.1582C>G (p.Arg528Gly) c.1690C>G (p.Arg564Gly) c.1687C>G (p.Arg563Gly) c.1606C>G (p.Arg536Gly) c.1603C>G (p.Arg535Gly) | |
X | g.20164991G>T | CA515613788 | RPS6KA3 | c.1672C>A (p.Arg558=) c.1585C>A (p.Arg529=) c.1588C>A (p.Arg530=) c.1290C>A (n.1290C>A) c.*893C>A (n.*893C>A) n.369-30C>A c.1669C>A (p.Arg557=) c.1582C>A (p.Arg528=) c.1690C>A (p.Arg564=) c.1687C>A (p.Arg563=) c.1606C>A (p.Arg536=) c.1603C>A (p.Arg535=) | |
X | g.20164992A>C | CA412514203 | RPS6KA3 | c.1671T>G (p.Ile557Met) c.1584T>G (p.Ile528Met) c.1587T>G (p.Ile529Met) c.1289T>G (n.1289T>G) c.*892T>G (n.*892T>G) n.369-31T>G c.1668T>G (p.Ile556Met) c.1581T>G (p.Ile527Met) c.1689T>G (p.Ile563Met) c.1686T>G (p.Ile562Met) c.1605T>G (p.Ile535Met) c.1602T>G (p.Ile534Met) | |
X | g.20164992A>G | CA515613792 | RPS6KA3 | c.1671T>C (p.Ile557=) c.1584T>C (p.Ile528=) c.1587T>C (p.Ile529=) c.1289T>C (n.1289T>C) c.*892T>C (n.*892T>C) n.369-31T>C c.1668T>C (p.Ile556=) c.1581T>C (p.Ile527=) c.1689T>C (p.Ile563=) c.1686T>C (p.Ile562=) c.1605T>C (p.Ile535=) c.1602T>C (p.Ile534=) | |
X | g.20164992A>T | CA515613793 | RPS6KA3 | c.1671T>A (p.Ile557=) c.1584T>A (p.Ile528=) c.1587T>A (p.Ile529=) c.1289T>A (n.1289T>A) c.*892T>A (n.*892T>A) n.369-31T>A c.1668T>A (p.Ile556=) c.1581T>A (p.Ile527=) c.1689T>A (p.Ile563=) c.1686T>A (p.Ile562=) c.1605T>A (p.Ile535=) c.1602T>A (p.Ile534=) | |
X | g.20164993A>C | CA412514204 | RPS6KA3 | c.1670T>G (p.Ile557Ser) c.1583T>G (p.Ile528Ser) c.1586T>G (p.Ile529Ser) c.1288T>G (n.1288T>G) c.*891T>G (n.*891T>G) n.369-32T>G c.1667T>G (p.Ile556Ser) c.1580T>G (p.Ile527Ser) c.1688T>G (p.Ile563Ser) c.1685T>G (p.Ile562Ser) c.1604T>G (p.Ile535Ser) c.1601T>G (p.Ile534Ser) | |
X | g.20164993A>G | CA412514205 | RPS6KA3 | c.1670T>C (p.Ile557Thr) c.1583T>C (p.Ile528Thr) c.1586T>C (p.Ile529Thr) c.1288T>C (n.1288T>C) c.*891T>C (n.*891T>C) n.369-32T>C c.1667T>C (p.Ile556Thr) c.1580T>C (p.Ile527Thr) c.1688T>C (p.Ile563Thr) c.1685T>C (p.Ile562Thr) c.1604T>C (p.Ile535Thr) c.1601T>C (p.Ile534Thr) | |
X | g.20164993A>T | CA412514206 | RPS6KA3 | c.1670T>A (p.Ile557Asn) c.1583T>A (p.Ile528Asn) c.1586T>A (p.Ile529Asn) c.1288T>A (n.1288T>A) c.*891T>A (n.*891T>A) n.369-32T>A c.1667T>A (p.Ile556Asn) c.1580T>A (p.Ile527Asn) c.1688T>A (p.Ile563Asn) c.1685T>A (p.Ile562Asn) c.1604T>A (p.Ile535Asn) c.1601T>A (p.Ile534Asn) | |
X | g.20164994T>A | CA412514207 | RPS6KA3 | c.1669A>T (p.Ile557Phe) c.1582A>T (p.Ile528Phe) c.1585A>T (p.Ile529Phe) c.1287A>T (n.1287A>T) c.*890A>T (n.*890A>T) n.369-33A>T c.1666A>T (p.Ile556Phe) c.1579A>T (p.Ile527Phe) c.1687A>T (p.Ile563Phe) c.1684A>T (p.Ile562Phe) c.1603A>T (p.Ile535Phe) c.1600A>T (p.Ile534Phe) | |
X | g.20164994T>C | CA412514208 | RPS6KA3 | c.1669A>G (p.Ile557Val) c.1582A>G (p.Ile528Val) c.1585A>G (p.Ile529Val) c.1287A>G (n.1287A>G) c.*890A>G (n.*890A>G) n.369-33A>G c.1666A>G (p.Ile556Val) c.1579A>G (p.Ile527Val) c.1687A>G (p.Ile563Val) c.1684A>G (p.Ile562Val) c.1603A>G (p.Ile535Val) c.1600A>G (p.Ile534Val) | |
X | g.20164994T>G | CA412514209 | RPS6KA3 | c.1669A>C (p.Ile557Leu) c.1582A>C (p.Ile528Leu) c.1585A>C (p.Ile529Leu) c.1287A>C (n.1287A>C) c.*890A>C (n.*890A>C) n.369-33A>C c.1666A>C (p.Ile556Leu) c.1579A>C (p.Ile527Leu) c.1687A>C (p.Ile563Leu) c.1684A>C (p.Ile562Leu) c.1603A>C (p.Ile535Leu) c.1600A>C (p.Ile534Leu) | |
X | g.20164995A>C | CA515613794 | RPS6KA3 | c.1668T>G (p.Ser556=) c.1581T>G (p.Ser527=) c.1584T>G (p.Ser528=) c.1286T>G (n.1286T>G) c.*889T>G (n.*889T>G) n.369-34T>G c.1665T>G (p.Ser555=) c.1578T>G (p.Ser526=) c.1686T>G (p.Ser562=) c.1683T>G (p.Ser561=) c.1602T>G (p.Ser534=) c.1599T>G (p.Ser533=) | gnomAD v4 |
X | g.20164995A>G | CA515613795 | RPS6KA3 | c.1668T>C (p.Ser556=) c.1581T>C (p.Ser527=) c.1584T>C (p.Ser528=) c.1286T>C (n.1286T>C) c.*889T>C (n.*889T>C) n.369-34T>C c.1665T>C (p.Ser555=) c.1578T>C (p.Ser526=) c.1686T>C (p.Ser562=) c.1683T>C (p.Ser561=) c.1602T>C (p.Ser534=) c.1599T>C (p.Ser533=) | gnomAD v4 |
X | g.20164995A>T | CA515613796 | RPS6KA3 | c.1668T>A (p.Ser556=) c.1581T>A (p.Ser527=) c.1584T>A (p.Ser528=) c.1286T>A (n.1286T>A) c.*889T>A (n.*889T>A) n.369-34T>A c.1665T>A (p.Ser555=) c.1578T>A (p.Ser526=) c.1686T>A (p.Ser562=) c.1683T>A (p.Ser561=) c.1602T>A (p.Ser534=) c.1599T>A (p.Ser533=) | |
X | g.20164996G>A | CA412514212 | RPS6KA3 | c.1667C>T (p.Ser556Phe) c.1580C>T (p.Ser527Phe) c.1583C>T (p.Ser528Phe) c.1285C>T (n.1285C>T) c.*888C>T (n.*888C>T) n.369-35C>T c.1664C>T (p.Ser555Phe) c.1577C>T (p.Ser526Phe) c.1685C>T (p.Ser562Phe) c.1682C>T (p.Ser561Phe) c.1601C>T (p.Ser534Phe) c.1598C>T (p.Ser533Phe) | |
X | g.20164996G>C | CA412514211 | RPS6KA3 | c.1667C>G (p.Ser556Cys) c.1580C>G (p.Ser527Cys) c.1583C>G (p.Ser528Cys) c.1285C>G (n.1285C>G) c.*888C>G (n.*888C>G) n.369-35C>G c.1664C>G (p.Ser555Cys) c.1577C>G (p.Ser526Cys) c.1685C>G (p.Ser562Cys) c.1682C>G (p.Ser561Cys) c.1601C>G (p.Ser534Cys) c.1598C>G (p.Ser533Cys) | gnomAD v4 |
X | g.20164996G>T | CA412514210 | RPS6KA3 | c.1667C>A (p.Ser556Tyr) c.1580C>A (p.Ser527Tyr) c.1583C>A (p.Ser528Tyr) c.1285C>A (n.1285C>A) c.*888C>A (n.*888C>A) n.369-35C>A c.1664C>A (p.Ser555Tyr) c.1577C>A (p.Ser526Tyr) c.1685C>A (p.Ser562Tyr) c.1682C>A (p.Ser561Tyr) c.1601C>A (p.Ser534Tyr) c.1598C>A (p.Ser533Tyr) | |
X | g.20164997A>C | CA412514213 | RPS6KA3 | c.1666T>G (p.Ser556Ala) c.1579T>G (p.Ser527Ala) c.1582T>G (p.Ser528Ala) c.1284T>G (n.1284T>G) c.*887T>G (n.*887T>G) n.369-36T>G c.1663T>G (p.Ser555Ala) c.1576T>G (p.Ser526Ala) c.1684T>G (p.Ser562Ala) c.1681T>G (p.Ser561Ala) c.1600T>G (p.Ser534Ala) c.1597T>G (p.Ser533Ala) | |
X | g.20164997A>G | CA412514214 | RPS6KA3 | c.1666T>C (p.Ser556Pro) c.1579T>C (p.Ser527Pro) c.1582T>C (p.Ser528Pro) c.1284T>C (n.1284T>C) c.*887T>C (n.*887T>C) n.369-36T>C c.1663T>C (p.Ser555Pro) c.1576T>C (p.Ser526Pro) c.1684T>C (p.Ser562Pro) c.1681T>C (p.Ser561Pro) c.1600T>C (p.Ser534Pro) c.1597T>C (p.Ser533Pro) | |
X | g.20164997A>T | CA412514215 | RPS6KA3 | c.1666T>A (p.Ser556Thr) c.1579T>A (p.Ser527Thr) c.1582T>A (p.Ser528Thr) c.1284T>A (n.1284T>A) c.*887T>A (n.*887T>A) n.369-36T>A c.1663T>A (p.Ser555Thr) c.1576T>A (p.Ser526Thr) c.1684T>A (p.Ser562Thr) c.1681T>A (p.Ser561Thr) c.1600T>A (p.Ser534Thr) c.1597T>A (p.Ser533Thr) | |
X | g.20164998T>A | CA412514216 | RPS6KA3 | c.1665A>T (p.Glu555Asp) c.1578A>T (p.Glu526Asp) c.1581A>T (p.Glu527Asp) c.1283A>T (n.1283A>T) c.*886A>T (n.*886A>T) n.369-37A>T c.1662A>T (p.Glu554Asp) c.1575A>T (p.Glu525Asp) c.1683A>T (p.Glu561Asp) c.1680A>T (p.Glu560Asp) c.1599A>T (p.Glu533Asp) c.1596A>T (p.Glu532Asp) | |
X | g.20164998T>C | CA515613800 | RPS6KA3 | c.1665A>G (p.Glu555=) c.1578A>G (p.Glu526=) c.1581A>G (p.Glu527=) c.1283A>G (n.1283A>G) c.*886A>G (n.*886A>G) n.369-37A>G c.1662A>G (p.Glu554=) c.1575A>G (p.Glu525=) c.1683A>G (p.Glu561=) c.1680A>G (p.Glu560=) c.1599A>G (p.Glu533=) c.1596A>G (p.Glu532=) | |
X | g.20164998T>G | CA412514217 | RPS6KA3 | c.1665A>C (p.Glu555Asp) c.1578A>C (p.Glu526Asp) c.1581A>C (p.Glu527Asp) c.1283A>C (n.1283A>C) c.*886A>C (n.*886A>C) n.369-37A>C c.1662A>C (p.Glu554Asp) c.1575A>C (p.Glu525Asp) c.1683A>C (p.Glu561Asp) c.1680A>C (p.Glu560Asp) c.1599A>C (p.Glu533Asp) c.1596A>C (p.Glu532Asp) | |
X | g.20164999T>A | CA412514218 | RPS6KA3 | c.1664A>T (p.Glu555Val) c.1577A>T (p.Glu526Val) c.1580A>T (p.Glu527Val) c.1282A>T (n.1282A>T) c.*885A>T (n.*885A>T) n.369-38A>T c.1661A>T (p.Glu554Val) c.1574A>T (p.Glu525Val) c.1682A>T (p.Glu561Val) c.1679A>T (p.Glu560Val) c.1598A>T (p.Glu533Val) c.1595A>T (p.Glu532Val) | |
X | g.20164999T>C | CA412514219 | RPS6KA3 | c.1664A>G (p.Glu555Gly) c.1577A>G (p.Glu526Gly) c.1580A>G (p.Glu527Gly) c.1282A>G (n.1282A>G) c.*885A>G (n.*885A>G) n.369-38A>G c.1661A>G (p.Glu554Gly) c.1574A>G (p.Glu525Gly) c.1682A>G (p.Glu561Gly) c.1679A>G (p.Glu560Gly) c.1598A>G (p.Glu533Gly) c.1595A>G (p.Glu532Gly) | |
X | g.20164999T>G | CA412514220 | RPS6KA3 | c.1664A>C (p.Glu555Ala) c.1577A>C (p.Glu526Ala) c.1580A>C (p.Glu527Ala) c.1282A>C (n.1282A>C) c.*885A>C (n.*885A>C) n.369-38A>C c.1661A>C (p.Glu554Ala) c.1574A>C (p.Glu525Ala) c.1682A>C (p.Glu561Ala) c.1679A>C (p.Glu560Ala) c.1598A>C (p.Glu533Ala) c.1595A>C (p.Glu532Ala) | |
X | g.20165000C>A | CA412514221 | RPS6KA3 | c.1663G>T (p.Glu555Ter) c.1576G>T (p.Glu526Ter) c.1579G>T (p.Glu527Ter) c.1281G>T (n.1281G>T) c.*884G>T (n.*884G>T) n.369-39G>T c.1660G>T (p.Glu554Ter) c.1573G>T (p.Glu525Ter) c.1681G>T (p.Glu561Ter) c.1678G>T (p.Glu560Ter) c.1597G>T (p.Glu533Ter) c.1594G>T (p.Glu532Ter) | |
X | g.20165000C>G | CA412514222 | RPS6KA3 | c.1663G>C (p.Glu555Gln) c.1576G>C (p.Glu526Gln) c.1579G>C (p.Glu527Gln) c.1281G>C (n.1281G>C) c.*884G>C (n.*884G>C) n.369-39G>C c.1660G>C (p.Glu554Gln) c.1573G>C (p.Glu525Gln) c.1681G>C (p.Glu561Gln) c.1678G>C (p.Glu560Gln) c.1597G>C (p.Glu533Gln) c.1594G>C (p.Glu532Gln) | |
X | g.20165000C>T | CA412514223 | RPS6KA3 | c.1663G>A (p.Glu555Lys) c.1576G>A (p.Glu526Lys) c.1579G>A (p.Glu527Lys) c.1281G>A (n.1281G>A) c.*884G>A (n.*884G>A) n.369-39G>A c.1660G>A (p.Glu554Lys) c.1573G>A (p.Glu525Lys) c.1681G>A (p.Glu561Lys) c.1678G>A (p.Glu560Lys) c.1597G>A (p.Glu533Lys) c.1594G>A (p.Glu532Lys) | |
X | g.20165001C>A | CA515613804 | RPS6KA3 | c.1662G>T (p.Pro554=) c.1575G>T (p.Pro525=) c.1578G>T (p.Pro526=) c.1280G>T (n.1280G>T) c.*883G>T (n.*883G>T) n.369-40G>T c.1659G>T (p.Pro553=) c.1572G>T (p.Pro524=) c.1680G>T (p.Pro560=) c.1677G>T (p.Pro559=) c.1596G>T (p.Pro532=) c.1593G>T (p.Pro531=) | |
X | g.20165001C= | CA2418505970 | RPS6KA3 | c.1662G= (p.Pro554=) c.1575G= (p.Pro525=) c.1578G= (p.Pro526=) c.1280G= (n.1280G=) c.*883G= (n.*883G=) n.369-40G= c.1659G= (p.Pro553=) c.1572G= (p.Pro524=) c.1680G= (p.Pro560=) c.1677G= (p.Pro559=) c.1596G= (p.Pro532=) c.1593G= (p.Pro531=) | |
X | g.20165001C>G | CA515613805 | RPS6KA3 | c.1662G>C (p.Pro554=) c.1575G>C (p.Pro525=) c.1578G>C (p.Pro526=) c.1280G>C (n.1280G>C) c.*883G>C (n.*883G>C) n.369-40G>C c.1659G>C (p.Pro553=) c.1572G>C (p.Pro524=) c.1680G>C (p.Pro560=) c.1677G>C (p.Pro559=) c.1596G>C (p.Pro532=) c.1593G>C (p.Pro531=) | |
X | g.20165001C>T | CA10366079 | RPS6KA3 | c.1662G>A (p.Pro554=) c.1575G>A (p.Pro525=) c.1578G>A (p.Pro526=) c.1280G>A (n.1280G>A) c.*883G>A (n.*883G>A) n.369-40G>A c.1659G>A (p.Pro553=) c.1572G>A (p.Pro524=) c.1680G>A (p.Pro560=) c.1677G>A (p.Pro559=) c.1596G>A (p.Pro532=) c.1593G>A (p.Pro531=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20165002G>A | CA412514224 | RPS6KA3 | c.1661C>T (p.Pro554Leu) c.1574C>T (p.Pro525Leu) c.1577C>T (p.Pro526Leu) c.1279C>T (n.1279C>T) c.*882C>T (n.*882C>T) n.369-41C>T c.1658C>T (p.Pro553Leu) c.1571C>T (p.Pro524Leu) c.1679C>T (p.Pro560Leu) c.1676C>T (p.Pro559Leu) c.1595C>T (p.Pro532Leu) c.1592C>T (p.Pro531Leu) | ClinVar dbSNP |
X | g.20165002G>C | CA412514226 | RPS6KA3 | c.1661C>G (p.Pro554Arg) c.1574C>G (p.Pro525Arg) c.1577C>G (p.Pro526Arg) c.1279C>G (n.1279C>G) c.*882C>G (n.*882C>G) n.369-41C>G c.1658C>G (p.Pro553Arg) c.1571C>G (p.Pro524Arg) c.1679C>G (p.Pro560Arg) c.1676C>G (p.Pro559Arg) c.1595C>G (p.Pro532Arg) c.1592C>G (p.Pro531Arg) | |
X | g.20165002G>T | CA412514225 | RPS6KA3 | c.1661C>A (p.Pro554Gln) c.1574C>A (p.Pro525Gln) c.1577C>A (p.Pro526Gln) c.1279C>A (n.1279C>A) c.*882C>A (n.*882C>A) n.369-41C>A c.1658C>A (p.Pro553Gln) c.1571C>A (p.Pro524Gln) c.1679C>A (p.Pro560Gln) c.1676C>A (p.Pro559Gln) c.1595C>A (p.Pro532Gln) c.1592C>A (p.Pro531Gln) | |
X | g.20165003G>A | CA412514227 | RPS6KA3 | c.1660C>T (p.Pro554Ser) c.1573C>T (p.Pro525Ser) c.1576C>T (p.Pro526Ser) c.1278C>T (n.1278C>T) c.*881C>T (n.*881C>T) n.369-42C>T c.1657C>T (p.Pro553Ser) c.1570C>T (p.Pro524Ser) c.1678C>T (p.Pro560Ser) c.1675C>T (p.Pro559Ser) c.1594C>T (p.Pro532Ser) c.1591C>T (p.Pro531Ser) | COSMIC |
X | g.20165003G>C | CA412514229 | RPS6KA3 | c.1660C>G (p.Pro554Ala) c.1573C>G (p.Pro525Ala) c.1576C>G (p.Pro526Ala) c.1278C>G (n.1278C>G) c.*881C>G (n.*881C>G) n.369-42C>G c.1657C>G (p.Pro553Ala) c.1570C>G (p.Pro524Ala) c.1678C>G (p.Pro560Ala) c.1675C>G (p.Pro559Ala) c.1594C>G (p.Pro532Ala) c.1591C>G (p.Pro531Ala) | |
X | g.20165003G>T | CA412514228 | RPS6KA3 | c.1660C>A (p.Pro554Thr) c.1573C>A (p.Pro525Thr) c.1576C>A (p.Pro526Thr) c.1278C>A (n.1278C>A) c.*881C>A (n.*881C>A) n.369-42C>A c.1657C>A (p.Pro553Thr) c.1570C>A (p.Pro524Thr) c.1678C>A (p.Pro560Thr) c.1675C>A (p.Pro559Thr) c.1594C>A (p.Pro532Thr) c.1591C>A (p.Pro531Thr) | |
X | g.20165004A>C | CA412514230 | RPS6KA3 | c.1659T>G (p.Asn553Lys) c.1572T>G (p.Asn524Lys) c.1575T>G (p.Asn525Lys) c.1277T>G (n.1277T>G) c.*880T>G (n.*880T>G) n.369-43T>G c.1656T>G (p.Asn552Lys) c.1569T>G (p.Asn523Lys) c.1677T>G (p.Asn559Lys) c.1674T>G (p.Asn558Lys) c.1593T>G (p.Asn531Lys) c.1590T>G (p.Asn530Lys) | |
X | g.20165004A>G | CA515613808 | RPS6KA3 | c.1659T>C (p.Asn553=) c.1572T>C (p.Asn524=) c.1575T>C (p.Asn525=) c.1277T>C (n.1277T>C) c.*880T>C (n.*880T>C) n.369-43T>C c.1656T>C (p.Asn552=) c.1569T>C (p.Asn523=) c.1677T>C (p.Asn559=) c.1674T>C (p.Asn558=) c.1593T>C (p.Asn531=) c.1590T>C (p.Asn530=) | gnomAD v4 |
X | g.20165004A>T | CA412514231 | RPS6KA3 | c.1659T>A (p.Asn553Lys) c.1572T>A (p.Asn524Lys) c.1575T>A (p.Asn525Lys) c.1277T>A (n.1277T>A) c.*880T>A (n.*880T>A) n.369-43T>A c.1656T>A (p.Asn552Lys) c.1569T>A (p.Asn523Lys) c.1677T>A (p.Asn559Lys) c.1674T>A (p.Asn558Lys) c.1593T>A (p.Asn531Lys) c.1590T>A (p.Asn530Lys) | |
X | g.20165005T>A | CA412514232 | RPS6KA3 | c.1658A>T (p.Asn553Ile) c.1571A>T (p.Asn524Ile) c.1574A>T (p.Asn525Ile) c.1276A>T (n.1276A>T) c.*879A>T (n.*879A>T) n.369-44A>T c.1655A>T (p.Asn552Ile) c.1568A>T (p.Asn523Ile) c.1676A>T (p.Asn559Ile) c.1673A>T (p.Asn558Ile) c.1592A>T (p.Asn531Ile) c.1589A>T (p.Asn530Ile) | |
X | g.20165005T>C | CA412514233 | RPS6KA3 | c.1658A>G (p.Asn553Ser) c.1571A>G (p.Asn524Ser) c.1574A>G (p.Asn525Ser) c.1276A>G (n.1276A>G) c.*879A>G (n.*879A>G) n.369-44A>G c.1655A>G (p.Asn552Ser) c.1568A>G (p.Asn523Ser) c.1676A>G (p.Asn559Ser) c.1673A>G (p.Asn558Ser) c.1592A>G (p.Asn531Ser) c.1589A>G (p.Asn530Ser) | gnomAD v4 |
X | g.20165005T>G | CA412514234 | RPS6KA3 | c.1658A>C (p.Asn553Thr) c.1571A>C (p.Asn524Thr) c.1574A>C (p.Asn525Thr) c.1276A>C (n.1276A>C) c.*879A>C (n.*879A>C) n.369-44A>C c.1655A>C (p.Asn552Thr) c.1568A>C (p.Asn523Thr) c.1676A>C (p.Asn559Thr) c.1673A>C (p.Asn558Thr) c.1592A>C (p.Asn531Thr) c.1589A>C (p.Asn530Thr) | |
X | g.20165006T>A | CA412514235 | RPS6KA3 | c.1657A>T (p.Asn553Tyr) c.1570A>T (p.Asn524Tyr) c.1573A>T (p.Asn525Tyr) c.1275A>T (n.1275A>T) c.*878A>T (n.*878A>T) n.369-45A>T c.1654A>T (p.Asn552Tyr) c.1567A>T (p.Asn523Tyr) c.1675A>T (p.Asn559Tyr) c.1672A>T (p.Asn558Tyr) c.1591A>T (p.Asn531Tyr) c.1588A>T (p.Asn530Tyr) | |
X | g.20165006T>C | CA412514236 | RPS6KA3 | c.1657A>G (p.Asn553Asp) c.1570A>G (p.Asn524Asp) c.1573A>G (p.Asn525Asp) c.1275A>G (n.1275A>G) c.*878A>G (n.*878A>G) n.369-45A>G c.1654A>G (p.Asn552Asp) c.1567A>G (p.Asn523Asp) c.1675A>G (p.Asn559Asp) c.1672A>G (p.Asn558Asp) c.1591A>G (p.Asn531Asp) c.1588A>G (p.Asn530Asp) | gnomAD v4 |
X | g.20165006T>G | CA412514237 | RPS6KA3 | c.1657A>C (p.Asn553His) c.1570A>C (p.Asn524His) c.1573A>C (p.Asn525His) c.1275A>C (n.1275A>C) c.*878A>C (n.*878A>C) n.369-45A>C c.1654A>C (p.Asn552His) c.1567A>C (p.Asn523His) c.1675A>C (p.Asn559His) c.1672A>C (p.Asn558His) c.1591A>C (p.Asn531His) c.1588A>C (p.Asn530His) | |
X | g.20165007A>C | CA515613812 | RPS6KA3 | c.1656T>G (p.Gly552=) c.1569T>G (p.Gly523=) c.1572T>G (p.Gly524=) c.1274T>G (n.1274T>G) c.*877T>G (n.*877T>G) n.369-46T>G c.1653T>G (p.Gly551=) c.1566T>G (p.Gly522=) c.1674T>G (p.Gly558=) c.1671T>G (p.Gly557=) c.1590T>G (p.Gly530=) c.1587T>G (p.Gly529=) | |
X | g.20165007A>G | CA515613813 | RPS6KA3 | c.1656T>C (p.Gly552=) c.1569T>C (p.Gly523=) c.1572T>C (p.Gly524=) c.1274T>C (n.1274T>C) c.*877T>C (n.*877T>C) n.369-46T>C c.1653T>C (p.Gly551=) c.1566T>C (p.Gly522=) c.1674T>C (p.Gly558=) c.1671T>C (p.Gly557=) c.1590T>C (p.Gly530=) c.1587T>C (p.Gly529=) | gnomAD v4 |
X | g.20165007A>T | CA515613814 | RPS6KA3 | c.1656T>A (p.Gly552=) c.1569T>A (p.Gly523=) c.1572T>A (p.Gly524=) c.1274T>A (n.1274T>A) c.*877T>A (n.*877T>A) n.369-46T>A c.1653T>A (p.Gly551=) c.1566T>A (p.Gly522=) c.1674T>A (p.Gly558=) c.1671T>A (p.Gly557=) c.1590T>A (p.Gly530=) c.1587T>A (p.Gly529=) | |
X | g.20165008C>A | CA412514238 | RPS6KA3 | c.1655G>T (p.Gly552Val) c.1568G>T (p.Gly523Val) c.1571G>T (p.Gly524Val) c.1273G>T (n.1273G>T) c.*876G>T (n.*876G>T) n.369-47G>T c.1652G>T (p.Gly551Val) c.1565G>T (p.Gly522Val) c.1673G>T (p.Gly558Val) c.1670G>T (p.Gly557Val) c.1589G>T (p.Gly530Val) c.1586G>T (p.Gly529Val) | |
X | g.20165008C>G | CA412514239 | RPS6KA3 | c.1655G>C (p.Gly552Ala) c.1568G>C (p.Gly523Ala) c.1571G>C (p.Gly524Ala) c.1273G>C (n.1273G>C) c.*876G>C (n.*876G>C) n.369-47G>C c.1652G>C (p.Gly551Ala) c.1565G>C (p.Gly522Ala) c.1673G>C (p.Gly558Ala) c.1670G>C (p.Gly557Ala) c.1589G>C (p.Gly530Ala) c.1586G>C (p.Gly529Ala) | |
X | g.20165008C>T | CA412514240 | RPS6KA3 | c.1655G>A (p.Gly552Asp) c.1568G>A (p.Gly523Asp) c.1571G>A (p.Gly524Asp) c.1273G>A (n.1273G>A) c.*876G>A (n.*876G>A) n.369-47G>A c.1652G>A (p.Gly551Asp) c.1565G>A (p.Gly522Asp) c.1673G>A (p.Gly558Asp) c.1670G>A (p.Gly557Asp) c.1589G>A (p.Gly530Asp) c.1586G>A (p.Gly529Asp) | |
X | g.20165009C>A | CA412514241 | RPS6KA3 | c.1654G>T (p.Gly552Cys) c.1567G>T (p.Gly523Cys) c.1570G>T (p.Gly524Cys) c.1272G>T (n.1272G>T) c.*875G>T (n.*875G>T) n.369-48G>T c.1651G>T (p.Gly551Cys) c.1564G>T (p.Gly522Cys) c.1672G>T (p.Gly558Cys) c.1669G>T (p.Gly557Cys) c.1588G>T (p.Gly530Cys) c.1585G>T (p.Gly529Cys) | |
X | g.20165009C>G | CA412514242 | RPS6KA3 | c.1654G>C (p.Gly552Arg) c.1567G>C (p.Gly523Arg) c.1570G>C (p.Gly524Arg) c.1272G>C (n.1272G>C) c.*875G>C (n.*875G>C) n.369-48G>C c.1651G>C (p.Gly551Arg) c.1564G>C (p.Gly522Arg) c.1672G>C (p.Gly558Arg) c.1669G>C (p.Gly557Arg) c.1588G>C (p.Gly530Arg) c.1585G>C (p.Gly529Arg) | |
X | g.20165009C>T | CA412514243 | RPS6KA3 | c.1654G>A (p.Gly552Ser) c.1567G>A (p.Gly523Ser) c.1570G>A (p.Gly524Ser) c.1272G>A (n.1272G>A) c.*875G>A (n.*875G>A) n.369-48G>A c.1651G>A (p.Gly551Ser) c.1564G>A (p.Gly522Ser) c.1672G>A (p.Gly558Ser) c.1669G>A (p.Gly557Ser) c.1588G>A (p.Gly530Ser) c.1585G>A (p.Gly529Ser) | |
X | g.20165010A>C | CA515613815 | RPS6KA3 | c.1653T>G (p.Ser551=) c.1566T>G (p.Ser522=) c.1569T>G (p.Ser523=) c.1271T>G (n.1271T>G) c.*874T>G (n.*874T>G) n.369-49T>G c.1650T>G (p.Ser550=) c.1563T>G (p.Ser521=) c.1671T>G (p.Ser557=) c.1668T>G (p.Ser556=) c.1587T>G (p.Ser529=) c.1584T>G (p.Ser528=) | |
X | g.20165010A>G | CA515613816 | RPS6KA3 | c.1653T>C (p.Ser551=) c.1566T>C (p.Ser522=) c.1569T>C (p.Ser523=) c.1271T>C (n.1271T>C) c.*874T>C (n.*874T>C) n.369-49T>C c.1650T>C (p.Ser550=) c.1563T>C (p.Ser521=) c.1671T>C (p.Ser557=) c.1668T>C (p.Ser556=) c.1587T>C (p.Ser529=) c.1584T>C (p.Ser528=) | gnomAD v4 |
X | g.20165010A>T | CA515613818 | RPS6KA3 | c.1653T>A (p.Ser551=) c.1566T>A (p.Ser522=) c.1569T>A (p.Ser523=) c.1271T>A (n.1271T>A) c.*874T>A (n.*874T>A) n.369-49T>A c.1650T>A (p.Ser550=) c.1563T>A (p.Ser521=) c.1671T>A (p.Ser557=) c.1668T>A (p.Ser556=) c.1587T>A (p.Ser529=) c.1584T>A (p.Ser528=) | |
X | g.20165011G>A | CA412514246 | RPS6KA3 | c.1652C>T (p.Ser551Phe) c.1565C>T (p.Ser522Phe) c.1568C>T (p.Ser523Phe) c.1270C>T (n.1270C>T) c.*873C>T (n.*873C>T) n.369-50C>T c.1649C>T (p.Ser550Phe) c.1562C>T (p.Ser521Phe) c.1670C>T (p.Ser557Phe) c.1667C>T (p.Ser556Phe) c.1586C>T (p.Ser529Phe) c.1583C>T (p.Ser528Phe) | |
X | g.20165011G>C | CA412514244 | RPS6KA3 | c.1652C>G (p.Ser551Cys) c.1565C>G (p.Ser522Cys) c.1568C>G (p.Ser523Cys) c.1270C>G (n.1270C>G) c.*873C>G (n.*873C>G) n.369-50C>G c.1649C>G (p.Ser550Cys) c.1562C>G (p.Ser521Cys) c.1670C>G (p.Ser557Cys) c.1667C>G (p.Ser556Cys) c.1586C>G (p.Ser529Cys) c.1583C>G (p.Ser528Cys) | |
X | g.20165011G>T | CA412514245 | RPS6KA3 | c.1652C>A (p.Ser551Tyr) c.1565C>A (p.Ser522Tyr) c.1568C>A (p.Ser523Tyr) c.1270C>A (n.1270C>A) c.*873C>A (n.*873C>A) n.369-50C>A c.1649C>A (p.Ser550Tyr) c.1562C>A (p.Ser521Tyr) c.1670C>A (p.Ser557Tyr) c.1667C>A (p.Ser556Tyr) c.1586C>A (p.Ser529Tyr) c.1583C>A (p.Ser528Tyr) | |
X | g.20165012A>C | CA412514247 | RPS6KA3 | c.1651T>G (p.Ser551Ala) c.1564T>G (p.Ser522Ala) c.1567T>G (p.Ser523Ala) c.1269T>G (n.1269T>G) c.*872T>G (n.*872T>G) n.369-51T>G c.1648T>G (p.Ser550Ala) c.1561T>G (p.Ser521Ala) c.1669T>G (p.Ser557Ala) c.1666T>G (p.Ser556Ala) c.1585T>G (p.Ser529Ala) c.1582T>G (p.Ser528Ala) | |
X | g.20165012A>G | CA412514248 | RPS6KA3 | c.1651T>C (p.Ser551Pro) c.1564T>C (p.Ser522Pro) c.1567T>C (p.Ser523Pro) c.1269T>C (n.1269T>C) c.*872T>C (n.*872T>C) n.369-51T>C c.1648T>C (p.Ser550Pro) c.1561T>C (p.Ser521Pro) c.1669T>C (p.Ser557Pro) c.1666T>C (p.Ser556Pro) c.1585T>C (p.Ser529Pro) c.1582T>C (p.Ser528Pro) | |
X | g.20165012A>T | CA412514249 | RPS6KA3 | c.1651T>A (p.Ser551Thr) c.1564T>A (p.Ser522Thr) c.1567T>A (p.Ser523Thr) c.1269T>A (n.1269T>A) c.*872T>A (n.*872T>A) n.369-51T>A c.1648T>A (p.Ser550Thr) c.1561T>A (p.Ser521Thr) c.1669T>A (p.Ser557Thr) c.1666T>A (p.Ser556Thr) c.1585T>A (p.Ser529Thr) c.1582T>A (p.Ser528Thr) | |
X | g.20165013T>A | CA412514250 | RPS6KA3 | c.1650A>T (p.Glu550Asp) c.1563A>T (p.Glu521Asp) c.1566A>T (p.Glu522Asp) c.1268A>T (n.1268A>T) c.*871A>T (n.*871A>T) n.369-52A>T c.1647A>T (p.Glu549Asp) c.1560A>T (p.Glu520Asp) c.1668A>T (p.Glu556Asp) c.1665A>T (p.Glu555Asp) c.1584A>T (p.Glu528Asp) c.1581A>T (p.Glu527Asp) | |
X | g.20165013T>C | CA515613821 | RPS6KA3 | c.1650A>G (p.Glu550=) c.1563A>G (p.Glu521=) c.1566A>G (p.Glu522=) c.1268A>G (n.1268A>G) c.*871A>G (n.*871A>G) n.369-52A>G c.1647A>G (p.Glu549=) c.1560A>G (p.Glu520=) c.1668A>G (p.Glu556=) c.1665A>G (p.Glu555=) c.1584A>G (p.Glu528=) c.1581A>G (p.Glu527=) | |
X | g.20165013T>G | CA412514251 | RPS6KA3 | c.1650A>C (p.Glu550Asp) c.1563A>C (p.Glu521Asp) c.1566A>C (p.Glu522Asp) c.1268A>C (n.1268A>C) c.*871A>C (n.*871A>C) n.369-52A>C c.1647A>C (p.Glu549Asp) c.1560A>C (p.Glu520Asp) c.1668A>C (p.Glu556Asp) c.1665A>C (p.Glu555Asp) c.1584A>C (p.Glu528Asp) c.1581A>C (p.Glu527Asp) | |
X | g.20165014del | CA2579569143 | RPS6KA3 | c.1650del (p.Glu550AspfsTer19) c.1563del (p.Glu521AspfsTer19) c.1566del (p.Glu522AspfsTer19) c.1268del (n.1268del) c.*871del (n.*871del) n.369-52del c.1647del (p.Glu549AspfsTer19) c.1560del (p.Glu520AspfsTer19) c.1668del (p.Glu556AspfsTer19) c.1665del (p.Glu555AspfsTer19) c.1584del (p.Glu528AspfsTer19) c.1581del (p.Glu527AspfsTer19) | |
X | g.20165014T>A | CA412514252 | RPS6KA3 | c.1649A>T (p.Glu550Val) c.1562A>T (p.Glu521Val) c.1565A>T (p.Glu522Val) c.1267A>T (n.1267A>T) c.*870A>T (n.*870A>T) n.369-53A>T c.1646A>T (p.Glu549Val) c.1559A>T (p.Glu520Val) c.1667A>T (p.Glu556Val) c.1664A>T (p.Glu555Val) c.1583A>T (p.Glu528Val) c.1580A>T (p.Glu527Val) | |
X | g.20165014T>C | CA412514253 | RPS6KA3 | c.1649A>G (p.Glu550Gly) c.1562A>G (p.Glu521Gly) c.1565A>G (p.Glu522Gly) c.1267A>G (n.1267A>G) c.*870A>G (n.*870A>G) n.369-53A>G c.1646A>G (p.Glu549Gly) c.1559A>G (p.Glu520Gly) c.1667A>G (p.Glu556Gly) c.1664A>G (p.Glu555Gly) c.1583A>G (p.Glu528Gly) c.1580A>G (p.Glu527Gly) | |
X | g.20165014T>G | CA412514254 | RPS6KA3 | c.1649A>C (p.Glu550Ala) c.1562A>C (p.Glu521Ala) c.1565A>C (p.Glu522Ala) c.1267A>C (n.1267A>C) c.*870A>C (n.*870A>C) n.369-53A>C c.1646A>C (p.Glu549Ala) c.1559A>C (p.Glu520Ala) c.1667A>C (p.Glu556Ala) c.1664A>C (p.Glu555Ala) c.1583A>C (p.Glu528Ala) c.1580A>C (p.Glu527Ala) | |
X | g.20165015C>A | CA412514255 | RPS6KA3 | c.1648G>T (p.Glu550Ter) c.1561G>T (p.Glu521Ter) c.1564G>T (p.Glu522Ter) c.1266G>T (n.1266G>T) c.*869G>T (n.*869G>T) n.369-54G>T c.1645G>T (p.Glu549Ter) c.1558G>T (p.Glu520Ter) c.1666G>T (p.Glu556Ter) c.1663G>T (p.Glu555Ter) c.1582G>T (p.Glu528Ter) c.1579G>T (p.Glu527Ter) | |
X | g.20165015C>G | CA412514256 | RPS6KA3 | c.1648G>C (p.Glu550Gln) c.1561G>C (p.Glu521Gln) c.1564G>C (p.Glu522Gln) c.1266G>C (n.1266G>C) c.*869G>C (n.*869G>C) n.369-54G>C c.1645G>C (p.Glu549Gln) c.1558G>C (p.Glu520Gln) c.1666G>C (p.Glu556Gln) c.1663G>C (p.Glu555Gln) c.1582G>C (p.Glu528Gln) c.1579G>C (p.Glu527Gln) | |
X | g.20165015C>T | CA412514257 | RPS6KA3 | c.1648G>A (p.Glu550Lys) c.1561G>A (p.Glu521Lys) c.1564G>A (p.Glu522Lys) c.1266G>A (n.1266G>A) c.*869G>A (n.*869G>A) n.369-54G>A c.1645G>A (p.Glu549Lys) c.1558G>A (p.Glu520Lys) c.1666G>A (p.Glu556Lys) c.1663G>A (p.Glu555Lys) c.1582G>A (p.Glu528Lys) c.1579G>A (p.Glu527Lys) | |
X | g.20165016A>C | CA412514259 | RPS6KA3 | c.1647T>G (p.Asp549Glu) c.1560T>G (p.Asp520Glu) c.1563T>G (p.Asp521Glu) c.1265T>G (n.1265T>G) c.*868T>G (n.*868T>G) n.369-55T>G c.1644T>G (p.Asp548Glu) c.1557T>G (p.Asp519Glu) c.1665T>G (p.Asp555Glu) c.1662T>G (p.Asp554Glu) c.1581T>G (p.Asp527Glu) c.1578T>G (p.Asp526Glu) | |
X | g.20165016A>G | CA515613825 | RPS6KA3 | c.1647T>C (p.Asp549=) c.1560T>C (p.Asp520=) c.1563T>C (p.Asp521=) c.1265T>C (n.1265T>C) c.*868T>C (n.*868T>C) n.369-55T>C c.1644T>C (p.Asp548=) c.1557T>C (p.Asp519=) c.1665T>C (p.Asp555=) c.1662T>C (p.Asp554=) c.1581T>C (p.Asp527=) c.1578T>C (p.Asp526=) | |
X | g.20165016A>T | CA412514258 | RPS6KA3 | c.1647T>A (p.Asp549Glu) c.1560T>A (p.Asp520Glu) c.1563T>A (p.Asp521Glu) c.1265T>A (n.1265T>A) c.*868T>A (n.*868T>A) n.369-55T>A c.1644T>A (p.Asp548Glu) c.1557T>A (p.Asp519Glu) c.1665T>A (p.Asp555Glu) c.1662T>A (p.Asp554Glu) c.1581T>A (p.Asp527Glu) c.1578T>A (p.Asp526Glu) | |
X | g.20165017T>A | CA412514260 | RPS6KA3 | c.1646A>T (p.Asp549Val) c.1559A>T (p.Asp520Val) c.1562A>T (p.Asp521Val) c.1264A>T (n.1264A>T) c.*867A>T (n.*867A>T) n.369-56A>T c.1643A>T (p.Asp548Val) c.1556A>T (p.Asp519Val) c.1664A>T (p.Asp555Val) c.1661A>T (p.Asp554Val) c.1580A>T (p.Asp527Val) c.1577A>T (p.Asp526Val) | |
X | g.20165017T>C | CA412514261 | RPS6KA3 | c.1646A>G (p.Asp549Gly) c.1559A>G (p.Asp520Gly) c.1562A>G (p.Asp521Gly) c.1264A>G (n.1264A>G) c.*867A>G (n.*867A>G) n.369-56A>G c.1643A>G (p.Asp548Gly) c.1556A>G (p.Asp519Gly) c.1664A>G (p.Asp555Gly) c.1661A>G (p.Asp554Gly) c.1580A>G (p.Asp527Gly) c.1577A>G (p.Asp526Gly) | |
X | g.20165017T>G | CA412514262 | RPS6KA3 | c.1646A>C (p.Asp549Ala) c.1559A>C (p.Asp520Ala) c.1562A>C (p.Asp521Ala) c.1264A>C (n.1264A>C) c.*867A>C (n.*867A>C) n.369-56A>C c.1643A>C (p.Asp548Ala) c.1556A>C (p.Asp519Ala) c.1664A>C (p.Asp555Ala) c.1661A>C (p.Asp554Ala) c.1580A>C (p.Asp527Ala) c.1577A>C (p.Asp526Ala) | |
X | g.20165018C>A | CA412514263 | RPS6KA3 | c.1645G>T (p.Asp549Tyr) c.1558G>T (p.Asp520Tyr) c.1561G>T (p.Asp521Tyr) c.1263G>T (n.1263G>T) c.*866G>T (n.*866G>T) n.369-57G>T c.1642G>T (p.Asp548Tyr) c.1555G>T (p.Asp519Tyr) c.1663G>T (p.Asp555Tyr) c.1660G>T (p.Asp554Tyr) c.1579G>T (p.Asp527Tyr) c.1576G>T (p.Asp526Tyr) | |
X | g.20165018C>G | CA412514264 | RPS6KA3 | c.1645G>C (p.Asp549His) c.1558G>C (p.Asp520His) c.1561G>C (p.Asp521His) c.1263G>C (n.1263G>C) c.*866G>C (n.*866G>C) n.369-57G>C c.1642G>C (p.Asp548His) c.1555G>C (p.Asp519His) c.1663G>C (p.Asp555His) c.1660G>C (p.Asp554His) c.1579G>C (p.Asp527His) c.1576G>C (p.Asp526His) | |
X | g.20165018C>T | CA412514265 | RPS6KA3 | c.1645G>A (p.Asp549Asn) c.1558G>A (p.Asp520Asn) c.1561G>A (p.Asp521Asn) c.1263G>A (n.1263G>A) c.*866G>A (n.*866G>A) n.369-57G>A c.1642G>A (p.Asp548Asn) c.1555G>A (p.Asp519Asn) c.1663G>A (p.Asp555Asn) c.1660G>A (p.Asp554Asn) c.1579G>A (p.Asp527Asn) c.1576G>A (p.Asp526Asn) | |
X | g.20165019C>A | CA10366080 | RPS6KA3 | c.1644G>T (p.Val548=) c.1557G>T (p.Val519=) c.1560G>T (p.Val520=) c.1262G>T (n.1262G>T) c.*865G>T (n.*865G>T) n.369-58G>T c.1641G>T (p.Val547=) c.1554G>T (p.Val518=) c.1662G>T (p.Val554=) c.1659G>T (p.Val553=) c.1578G>T (p.Val526=) c.1575G>T (p.Val525=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20165019C= | CA2418505971 | RPS6KA3 | c.1644G= (p.Val548=) c.1557G= (p.Val519=) c.1560G= (p.Val520=) c.1262G= (n.1262G=) c.*865G= (n.*865G=) n.369-58G= c.1641G= (p.Val547=) c.1554G= (p.Val518=) c.1662G= (p.Val554=) c.1659G= (p.Val553=) c.1578G= (p.Val526=) c.1575G= (p.Val525=) | |
X | g.20165019C>G | CA515613828 | RPS6KA3 | c.1644G>C (p.Val548=) c.1557G>C (p.Val519=) c.1560G>C (p.Val520=) c.1262G>C (n.1262G>C) c.*865G>C (n.*865G>C) n.369-58G>C c.1641G>C (p.Val547=) c.1554G>C (p.Val518=) c.1662G>C (p.Val554=) c.1659G>C (p.Val553=) c.1578G>C (p.Val526=) c.1575G>C (p.Val525=) | |
X | g.20165019C>T | CA515613830 | RPS6KA3 | c.1644G>A (p.Val548=) c.1557G>A (p.Val519=) c.1560G>A (p.Val520=) c.1262G>A (n.1262G>A) c.*865G>A (n.*865G>A) n.369-58G>A c.1641G>A (p.Val547=) c.1554G>A (p.Val518=) c.1662G>A (p.Val554=) c.1659G>A (p.Val553=) c.1578G>A (p.Val526=) c.1575G>A (p.Val525=) | |
X | g.20165020A>C | CA412514266 | RPS6KA3 | c.1643T>G (p.Val548Gly) c.1556T>G (p.Val519Gly) c.1559T>G (p.Val520Gly) c.1261T>G (n.1261T>G) c.*864T>G (n.*864T>G) n.369-59T>G c.1640T>G (p.Val547Gly) c.1553T>G (p.Val518Gly) c.1661T>G (p.Val554Gly) c.1658T>G (p.Val553Gly) c.1577T>G (p.Val526Gly) c.1574T>G (p.Val525Gly) | |
X | g.20165020A>G | CA412514267 | RPS6KA3 | c.1643T>C (p.Val548Ala) c.1556T>C (p.Val519Ala) c.1559T>C (p.Val520Ala) c.1261T>C (n.1261T>C) c.*864T>C (n.*864T>C) n.369-59T>C c.1640T>C (p.Val547Ala) c.1553T>C (p.Val518Ala) c.1661T>C (p.Val554Ala) c.1658T>C (p.Val553Ala) c.1577T>C (p.Val526Ala) c.1574T>C (p.Val525Ala) | |
X | g.20165020A>T | CA412514268 | RPS6KA3 | c.1643T>A (p.Val548Glu) c.1556T>A (p.Val519Glu) c.1559T>A (p.Val520Glu) c.1261T>A (n.1261T>A) c.*864T>A (n.*864T>A) n.369-59T>A c.1640T>A (p.Val547Glu) c.1553T>A (p.Val518Glu) c.1661T>A (p.Val554Glu) c.1658T>A (p.Val553Glu) c.1577T>A (p.Val526Glu) c.1574T>A (p.Val525Glu) | |
X | g.20165021C>A | CA412514269 | RPS6KA3 | c.1642G>T (p.Val548Leu) c.1555G>T (p.Val519Leu) c.1558G>T (p.Val520Leu) c.1260G>T (n.1260G>T) c.*863G>T (n.*863G>T) n.369-60G>T c.1639G>T (p.Val547Leu) c.1552G>T (p.Val518Leu) c.1660G>T (p.Val554Leu) c.1657G>T (p.Val553Leu) c.1576G>T (p.Val526Leu) c.1573G>T (p.Val525Leu) | |
X | g.20165021C>G | CA412514270 | RPS6KA3 | c.1642G>C (p.Val548Leu) c.1555G>C (p.Val519Leu) c.1558G>C (p.Val520Leu) c.1260G>C (n.1260G>C) c.*863G>C (n.*863G>C) n.369-60G>C c.1639G>C (p.Val547Leu) c.1552G>C (p.Val518Leu) c.1660G>C (p.Val554Leu) c.1657G>C (p.Val553Leu) c.1576G>C (p.Val526Leu) c.1573G>C (p.Val525Leu) | |
X | g.20165021C>T | CA412514271 | RPS6KA3 | c.1642G>A (p.Val548Met) c.1555G>A (p.Val519Met) c.1558G>A (p.Val520Met) c.1260G>A (n.1260G>A) c.*863G>A (n.*863G>A) n.369-60G>A c.1639G>A (p.Val547Met) c.1552G>A (p.Val518Met) c.1660G>A (p.Val554Met) c.1657G>A (p.Val553Met) c.1576G>A (p.Val526Met) c.1573G>A (p.Val525Met) | |
X | g.20165022A>C | CA412514273 | RPS6KA3 | c.1641T>G (p.Tyr547Ter) c.1554T>G (p.Tyr518Ter) c.1557T>G (p.Tyr519Ter) c.1259T>G (n.1259T>G) c.*862T>G (n.*862T>G) n.369-61T>G c.1638T>G (p.Tyr546Ter) c.1551T>G (p.Tyr517Ter) c.1659T>G (p.Tyr553Ter) c.1656T>G (p.Tyr552Ter) c.1575T>G (p.Tyr525Ter) c.1572T>G (p.Tyr524Ter) | |
X | g.20165022A>G | CA515613831 | RPS6KA3 | c.1641T>C (p.Tyr547=) c.1554T>C (p.Tyr518=) c.1557T>C (p.Tyr519=) c.1259T>C (n.1259T>C) c.*862T>C (n.*862T>C) n.369-61T>C c.1638T>C (p.Tyr546=) c.1551T>C (p.Tyr517=) c.1659T>C (p.Tyr553=) c.1656T>C (p.Tyr552=) c.1575T>C (p.Tyr525=) c.1572T>C (p.Tyr524=) | |
X | g.20165022A>T | CA412514272 | RPS6KA3 | c.1641T>A (p.Tyr547Ter) c.1554T>A (p.Tyr518Ter) c.1557T>A (p.Tyr519Ter) c.1259T>A (n.1259T>A) c.*862T>A (n.*862T>A) n.369-61T>A c.1638T>A (p.Tyr546Ter) c.1551T>A (p.Tyr517Ter) c.1659T>A (p.Tyr553Ter) c.1656T>A (p.Tyr552Ter) c.1575T>A (p.Tyr525Ter) c.1572T>A (p.Tyr524Ter) | |
X | g.20165023T>A | CA412514274 | RPS6KA3 | c.1640A>T (p.Tyr547Phe) c.1553A>T (p.Tyr518Phe) c.1556A>T (p.Tyr519Phe) c.1258A>T (n.1258A>T) c.*861A>T (n.*861A>T) n.369-62A>T c.1637A>T (p.Tyr546Phe) c.1550A>T (p.Tyr517Phe) c.1658A>T (p.Tyr553Phe) c.1655A>T (p.Tyr552Phe) c.1574A>T (p.Tyr525Phe) c.1571A>T (p.Tyr524Phe) | |
X | g.20165023T>C | CA412514275 | RPS6KA3 | c.1640A>G (p.Tyr547Cys) c.1553A>G (p.Tyr518Cys) c.1556A>G (p.Tyr519Cys) c.1258A>G (n.1258A>G) c.*861A>G (n.*861A>G) n.369-62A>G c.1637A>G (p.Tyr546Cys) c.1550A>G (p.Tyr517Cys) c.1658A>G (p.Tyr553Cys) c.1655A>G (p.Tyr552Cys) c.1574A>G (p.Tyr525Cys) c.1571A>G (p.Tyr524Cys) | |
X | g.20165023T>G | CA412514276 | RPS6KA3 | c.1640A>C (p.Tyr547Ser) c.1553A>C (p.Tyr518Ser) c.1556A>C (p.Tyr519Ser) c.1258A>C (n.1258A>C) c.*861A>C (n.*861A>C) n.369-62A>C c.1637A>C (p.Tyr546Ser) c.1550A>C (p.Tyr517Ser) c.1658A>C (p.Tyr553Ser) c.1655A>C (p.Tyr552Ser) c.1574A>C (p.Tyr525Ser) c.1571A>C (p.Tyr524Ser) | |
X | g.20165024A>C | CA412514277 | RPS6KA3 | c.1639T>G (p.Tyr547Asp) c.1552T>G (p.Tyr518Asp) c.1555T>G (p.Tyr519Asp) c.1257T>G (n.1257T>G) c.*860T>G (n.*860T>G) n.369-63T>G c.1636T>G (p.Tyr546Asp) c.1549T>G (p.Tyr517Asp) c.1657T>G (p.Tyr553Asp) c.1654T>G (p.Tyr552Asp) c.1573T>G (p.Tyr525Asp) c.1570T>G (p.Tyr524Asp) | |
X | g.20165024A>G | CA412514278 | RPS6KA3 | c.1639T>C (p.Tyr547His) c.1552T>C (p.Tyr518His) c.1555T>C (p.Tyr519His) c.1257T>C (n.1257T>C) c.*860T>C (n.*860T>C) n.369-63T>C c.1636T>C (p.Tyr546His) c.1549T>C (p.Tyr517His) c.1657T>C (p.Tyr553His) c.1654T>C (p.Tyr552His) c.1573T>C (p.Tyr525His) c.1570T>C (p.Tyr524His) | |
X | g.20165024A>T | CA412514279 | RPS6KA3 | c.1639T>A (p.Tyr547Asn) c.1552T>A (p.Tyr518Asn) c.1555T>A (p.Tyr519Asn) c.1257T>A (n.1257T>A) c.*860T>A (n.*860T>A) n.369-63T>A c.1636T>A (p.Tyr546Asn) c.1549T>A (p.Tyr517Asn) c.1657T>A (p.Tyr553Asn) c.1654T>A (p.Tyr552Asn) c.1573T>A (p.Tyr525Asn) c.1570T>A (p.Tyr524Asn) | |
X | g.20165026del | CA2579569144 | RPS6KA3 | c.1639del (p.Tyr547MetfsTer22) c.1552del (p.Tyr518MetfsTer22) c.1555del (p.Tyr519MetfsTer22) c.1257del (n.1257del) c.*860del (n.*860del) n.369-63del c.1636del (p.Tyr546MetfsTer22) c.1549del (p.Tyr517MetfsTer22) c.1657del (p.Tyr553MetfsTer22) c.1654del (p.Tyr552MetfsTer22) c.1573del (p.Tyr525MetfsTer22) c.1570del (p.Tyr524MetfsTer22) | |
X | g.20165025A>C | CA515613835 | RPS6KA3 | c.1638T>G (p.Leu546=) c.1551T>G (p.Leu517=) c.1554T>G (p.Leu518=) c.1256T>G (n.1256T>G) c.*859T>G (n.*859T>G) n.369-64T>G c.1635T>G (p.Leu545=) c.1548T>G (p.Leu516=) c.1656T>G (p.Leu552=) c.1653T>G (p.Leu551=) c.1572T>G (p.Leu524=) c.1569T>G (p.Leu523=) | |
X | g.20165025A>G | CA515613834 | RPS6KA3 | c.1638T>C (p.Leu546=) c.1551T>C (p.Leu517=) c.1554T>C (p.Leu518=) c.1256T>C (n.1256T>C) c.*859T>C (n.*859T>C) n.369-64T>C c.1635T>C (p.Leu545=) c.1548T>C (p.Leu516=) c.1656T>C (p.Leu552=) c.1653T>C (p.Leu551=) c.1572T>C (p.Leu524=) c.1569T>C (p.Leu523=) | gnomAD v4 |
X | g.20165025A>T | CA515613836 | RPS6KA3 | c.1638T>A (p.Leu546=) c.1551T>A (p.Leu517=) c.1554T>A (p.Leu518=) c.1256T>A (n.1256T>A) c.*859T>A (n.*859T>A) n.369-64T>A c.1635T>A (p.Leu545=) c.1548T>A (p.Leu516=) c.1656T>A (p.Leu552=) c.1653T>A (p.Leu551=) c.1572T>A (p.Leu524=) c.1569T>A (p.Leu523=) | |
X | g.20165025_20165027delinsC | CA645601242 | RPS6KA3 | c.1636_1638delinsG (p.Leu546ValfsTer4) c.1549_1551delinsG (p.Leu517ValfsTer4) c.1552_1554delinsG (p.Leu518ValfsTer4) c.1254_1256delinsG (n.1254_1256delinsG) c.*857_*859delinsG (n.*857_*859delinsG) n.369-66_369-64delinsG c.1633_1635delinsG (p.Leu545ValfsTer4) c.1546_1548delinsG (p.Leu516ValfsTer4) c.1654_1656delinsG (p.Leu552ValfsTer4) c.1651_1653delinsG (p.Leu551ValfsTer4) c.1570_1572delinsG (p.Leu524ValfsTer4) c.1567_1569delinsG (p.Leu523ValfsTer4) | COSMIC |
X | g.20165026A>C | CA412514280 | RPS6KA3 | c.1637T>G (p.Leu546Arg) c.1550T>G (p.Leu517Arg) c.1553T>G (p.Leu518Arg) c.1255T>G (n.1255T>G) c.*858T>G (n.*858T>G) n.369-65T>G c.1634T>G (p.Leu545Arg) c.1547T>G (p.Leu516Arg) c.1655T>G (p.Leu552Arg) c.1652T>G (p.Leu551Arg) c.1571T>G (p.Leu524Arg) c.1568T>G (p.Leu523Arg) | |
X | g.20165026A>G | CA412514281 | RPS6KA3 | c.1637T>C (p.Leu546Pro) c.1550T>C (p.Leu517Pro) c.1553T>C (p.Leu518Pro) c.1255T>C (n.1255T>C) c.*858T>C (n.*858T>C) n.369-65T>C c.1634T>C (p.Leu545Pro) c.1547T>C (p.Leu516Pro) c.1655T>C (p.Leu552Pro) c.1652T>C (p.Leu551Pro) c.1571T>C (p.Leu524Pro) c.1568T>C (p.Leu523Pro) | |
X | g.20165026A>T | CA412514282 | RPS6KA3 | c.1637T>A (p.Leu546His) c.1550T>A (p.Leu517His) c.1553T>A (p.Leu518His) c.1255T>A (n.1255T>A) c.*858T>A (n.*858T>A) n.369-65T>A c.1634T>A (p.Leu545His) c.1547T>A (p.Leu516His) c.1655T>A (p.Leu552His) c.1652T>A (p.Leu551His) c.1571T>A (p.Leu524His) c.1568T>A (p.Leu523His) | |
X | g.20165027G>A | CA412514283 | RPS6KA3 | c.1636C>T (p.Leu546Phe) c.1549C>T (p.Leu517Phe) c.1552C>T (p.Leu518Phe) c.1254C>T (n.1254C>T) c.*857C>T (n.*857C>T) n.369-66C>T c.1633C>T (p.Leu545Phe) c.1546C>T (p.Leu516Phe) c.1654C>T (p.Leu552Phe) c.1651C>T (p.Leu551Phe) c.1570C>T (p.Leu524Phe) c.1567C>T (p.Leu523Phe) | |
X | g.20165027G>C | CA412514284 | RPS6KA3 | c.1636C>G (p.Leu546Val) c.1549C>G (p.Leu517Val) c.1552C>G (p.Leu518Val) c.1254C>G (n.1254C>G) c.*857C>G (n.*857C>G) n.369-66C>G c.1633C>G (p.Leu545Val) c.1546C>G (p.Leu516Val) c.1654C>G (p.Leu552Val) c.1651C>G (p.Leu551Val) c.1570C>G (p.Leu524Val) c.1567C>G (p.Leu523Val) | |
X | g.20165027G>T | CA412514285 | RPS6KA3 | c.1636C>A (p.Leu546Ile) c.1549C>A (p.Leu517Ile) c.1552C>A (p.Leu518Ile) c.1254C>A (n.1254C>A) c.*857C>A (n.*857C>A) n.369-66C>A c.1633C>A (p.Leu545Ile) c.1546C>A (p.Leu516Ile) c.1654C>A (p.Leu552Ile) c.1651C>A (p.Leu551Ile) c.1570C>A (p.Leu524Ile) c.1567C>A (p.Leu523Ile) | |
X | g.20165028A>C | CA412514286 | RPS6KA3 | c.1635T>G (p.Ile545Met) c.1548T>G (p.Ile516Met) c.1551T>G (p.Ile517Met) c.1253T>G (n.1253T>G) c.*856T>G (n.*856T>G) n.369-67T>G c.1632T>G (p.Ile544Met) c.1545T>G (p.Ile515Met) c.1653T>G (p.Ile551Met) c.1650T>G (p.Ile550Met) c.1569T>G (p.Ile523Met) c.1566T>G (p.Ile522Met) | gnomAD v4 |
X | g.20165028A>G | CA515613837 | RPS6KA3 | c.1635T>C (p.Ile545=) c.1548T>C (p.Ile516=) c.1551T>C (p.Ile517=) c.1253T>C (n.1253T>C) c.*856T>C (n.*856T>C) n.369-67T>C c.1632T>C (p.Ile544=) c.1545T>C (p.Ile515=) c.1653T>C (p.Ile551=) c.1650T>C (p.Ile550=) c.1569T>C (p.Ile523=) c.1566T>C (p.Ile522=) | |
X | g.20165028A>T | CA515613838 | RPS6KA3 | c.1635T>A (p.Ile545=) c.1548T>A (p.Ile516=) c.1551T>A (p.Ile517=) c.1253T>A (n.1253T>A) c.*856T>A (n.*856T>A) n.369-67T>A c.1632T>A (p.Ile544=) c.1545T>A (p.Ile515=) c.1653T>A (p.Ile551=) c.1650T>A (p.Ile550=) c.1569T>A (p.Ile523=) c.1566T>A (p.Ile522=) | |
X | g.20165029A>C | CA412514289 | RPS6KA3 | c.1634T>G (p.Ile545Ser) c.1547T>G (p.Ile516Ser) c.1550T>G (p.Ile517Ser) c.1252T>G (n.1252T>G) c.*855T>G (n.*855T>G) n.369-68T>G c.1631T>G (p.Ile544Ser) c.1544T>G (p.Ile515Ser) c.1652T>G (p.Ile551Ser) c.1649T>G (p.Ile550Ser) c.1568T>G (p.Ile523Ser) c.1565T>G (p.Ile522Ser) | |
X | g.20165029A>G | CA412514288 | RPS6KA3 | c.1634T>C (p.Ile545Thr) c.1547T>C (p.Ile516Thr) c.1550T>C (p.Ile517Thr) c.1252T>C (n.1252T>C) c.*855T>C (n.*855T>C) n.369-68T>C c.1631T>C (p.Ile544Thr) c.1544T>C (p.Ile515Thr) c.1652T>C (p.Ile551Thr) c.1649T>C (p.Ile550Thr) c.1568T>C (p.Ile523Thr) c.1565T>C (p.Ile522Thr) | |
X | g.20165029A>T | CA412514287 | RPS6KA3 | c.1634T>A (p.Ile545Asn) c.1547T>A (p.Ile516Asn) c.1550T>A (p.Ile517Asn) c.1252T>A (n.1252T>A) c.*855T>A (n.*855T>A) n.369-68T>A c.1631T>A (p.Ile544Asn) c.1544T>A (p.Ile515Asn) c.1652T>A (p.Ile551Asn) c.1649T>A (p.Ile550Asn) c.1568T>A (p.Ile523Asn) c.1565T>A (p.Ile522Asn) | |
X | g.20165030T>A | CA412514290 | RPS6KA3 | c.1633A>T (p.Ile545Phe) c.1546A>T (p.Ile516Phe) c.1549A>T (p.Ile517Phe) c.1251A>T (n.1251A>T) c.*854A>T (n.*854A>T) n.369-69A>T c.1630A>T (p.Ile544Phe) c.1543A>T (p.Ile515Phe) c.1651A>T (p.Ile551Phe) c.1648A>T (p.Ile550Phe) c.1567A>T (p.Ile523Phe) c.1564A>T (p.Ile522Phe) | |
X | g.20165030T>C | CA412514291 | RPS6KA3 | c.1633A>G (p.Ile545Val) c.1546A>G (p.Ile516Val) c.1549A>G (p.Ile517Val) c.1251A>G (n.1251A>G) c.*854A>G (n.*854A>G) n.369-69A>G c.1630A>G (p.Ile544Val) c.1543A>G (p.Ile515Val) c.1651A>G (p.Ile551Val) c.1648A>G (p.Ile550Val) c.1567A>G (p.Ile523Val) c.1564A>G (p.Ile522Val) | ClinVar dbSNP gnomAD v4 |
X | g.20165030T>G | CA412514292 | RPS6KA3 | c.1633A>C (p.Ile545Leu) c.1546A>C (p.Ile516Leu) c.1549A>C (p.Ile517Leu) c.1251A>C (n.1251A>C) c.*854A>C (n.*854A>C) n.369-69A>C c.1630A>C (p.Ile544Leu) c.1543A>C (p.Ile515Leu) c.1651A>C (p.Ile551Leu) c.1648A>C (p.Ile550Leu) c.1567A>C (p.Ile523Leu) c.1564A>C (p.Ile522Leu) | |
X | g.20165030T= | CA2418505972 | RPS6KA3 | c.1633A= (p.Ile545=) c.1546A= (p.Ile516=) c.1549A= (p.Ile517=) c.1251A= (n.1251A=) c.*854A= (n.*854A=) n.369-69A= c.1630A= (p.Ile544=) c.1543A= (p.Ile515=) c.1651A= (p.Ile551=) c.1648A= (p.Ile550=) c.1567A= (p.Ile523=) c.1564A= (p.Ile522=) | |
X | g.20165031G>A | CA515613841 | RPS6KA3 | c.1632C>T (p.Asn544=) c.1545C>T (p.Asn515=) c.1548C>T (p.Asn516=) c.1250C>T (n.1250C>T) c.*853C>T (n.*853C>T) n.369-70C>T c.1629C>T (p.Asn543=) c.1542C>T (p.Asn514=) c.1650C>T (p.Asn550=) c.1647C>T (p.Asn549=) c.1566C>T (p.Asn522=) c.1563C>T (p.Asn521=) | |
X | g.20165031G>C | CA412514293 | RPS6KA3 | c.1632C>G (p.Asn544Lys) c.1545C>G (p.Asn515Lys) c.1548C>G (p.Asn516Lys) c.1250C>G (n.1250C>G) c.*853C>G (n.*853C>G) n.369-70C>G c.1629C>G (p.Asn543Lys) c.1542C>G (p.Asn514Lys) c.1650C>G (p.Asn550Lys) c.1647C>G (p.Asn549Lys) c.1566C>G (p.Asn522Lys) c.1563C>G (p.Asn521Lys) | |
X | g.20165031G>T | CA412514294 | RPS6KA3 | c.1632C>A (p.Asn544Lys) c.1545C>A (p.Asn515Lys) c.1548C>A (p.Asn516Lys) c.1250C>A (n.1250C>A) c.*853C>A (n.*853C>A) n.369-70C>A c.1629C>A (p.Asn543Lys) c.1542C>A (p.Asn514Lys) c.1650C>A (p.Asn550Lys) c.1647C>A (p.Asn549Lys) c.1566C>A (p.Asn522Lys) c.1563C>A (p.Asn521Lys) | |
X | g.20165032T>A | CA412514295 | RPS6KA3 | c.1631A>T (p.Asn544Ile) c.1544A>T (p.Asn515Ile) c.1547A>T (p.Asn516Ile) c.1249A>T (n.1249A>T) c.*852A>T (n.*852A>T) n.369-71A>T c.1628A>T (p.Asn543Ile) c.1541A>T (p.Asn514Ile) c.1649A>T (p.Asn550Ile) c.1646A>T (p.Asn549Ile) c.1565A>T (p.Asn522Ile) c.1562A>T (p.Asn521Ile) | |
X | g.20165032T>C | CA412514296 | RPS6KA3 | c.1631A>G (p.Asn544Ser) c.1544A>G (p.Asn515Ser) c.1547A>G (p.Asn516Ser) c.1249A>G (n.1249A>G) c.*852A>G (n.*852A>G) n.369-71A>G c.1628A>G (p.Asn543Ser) c.1541A>G (p.Asn514Ser) c.1649A>G (p.Asn550Ser) c.1646A>G (p.Asn549Ser) c.1565A>G (p.Asn522Ser) c.1562A>G (p.Asn521Ser) | |
X | g.20165032T>G | CA412514297 | RPS6KA3 | c.1631A>C (p.Asn544Thr) c.1544A>C (p.Asn515Thr) c.1547A>C (p.Asn516Thr) c.1249A>C (n.1249A>C) c.*852A>C (n.*852A>C) n.369-71A>C c.1628A>C (p.Asn543Thr) c.1541A>C (p.Asn514Thr) c.1649A>C (p.Asn550Thr) c.1646A>C (p.Asn549Thr) c.1565A>C (p.Asn522Thr) c.1562A>C (p.Asn521Thr) | |
X | g.20165033T>A | CA412514298 | RPS6KA3 | c.1630A>T (p.Asn544Tyr) c.1543A>T (p.Asn515Tyr) c.1546A>T (p.Asn516Tyr) c.1248A>T (n.1248A>T) c.*851A>T (n.*851A>T) n.369-72A>T c.1627A>T (p.Asn543Tyr) c.1540A>T (p.Asn514Tyr) c.1648A>T (p.Asn550Tyr) c.1645A>T (p.Asn549Tyr) c.1564A>T (p.Asn522Tyr) c.1561A>T (p.Asn521Tyr) | |
X | g.20165033T>C | CA412514299 | RPS6KA3 | c.1630A>G (p.Asn544Asp) c.1543A>G (p.Asn515Asp) c.1546A>G (p.Asn516Asp) c.1248A>G (n.1248A>G) c.*851A>G (n.*851A>G) n.369-72A>G c.1627A>G (p.Asn543Asp) c.1540A>G (p.Asn514Asp) c.1648A>G (p.Asn550Asp) c.1645A>G (p.Asn549Asp) c.1564A>G (p.Asn522Asp) c.1561A>G (p.Asn521Asp) | |
X | g.20165033T>G | CA412514300 | RPS6KA3 | c.1630A>C (p.Asn544His) c.1543A>C (p.Asn515His) c.1546A>C (p.Asn516His) c.1248A>C (n.1248A>C) c.*851A>C (n.*851A>C) n.369-72A>C c.1627A>C (p.Asn543His) c.1540A>C (p.Asn514His) c.1648A>C (p.Asn550His) c.1645A>C (p.Asn549His) c.1564A>C (p.Asn522His) c.1561A>C (p.Asn521His) | |
X | g.20165034G>A | CA515613842 | RPS6KA3 | c.1629C>T (p.Ser543=) c.1542C>T (p.Ser514=) c.1545C>T (p.Ser515=) c.1247C>T (n.1247C>T) c.*850C>T (n.*850C>T) n.369-73C>T c.1626C>T (p.Ser542=) c.1539C>T (p.Ser513=) c.1647C>T (p.Ser549=) c.1644C>T (p.Ser548=) c.1563C>T (p.Ser521=) c.1560C>T (p.Ser520=) | gnomAD v4 |
X | g.20165034G>C | CA412514301 | RPS6KA3 | c.1629C>G (p.Ser543Arg) c.1542C>G (p.Ser514Arg) c.1545C>G (p.Ser515Arg) c.1247C>G (n.1247C>G) c.*850C>G (n.*850C>G) n.369-73C>G c.1626C>G (p.Ser542Arg) c.1539C>G (p.Ser513Arg) c.1647C>G (p.Ser549Arg) c.1644C>G (p.Ser548Arg) c.1563C>G (p.Ser521Arg) c.1560C>G (p.Ser520Arg) | |
X | g.20165034G>T | CA412514302 | RPS6KA3 | c.1629C>A (p.Ser543Arg) c.1542C>A (p.Ser514Arg) c.1545C>A (p.Ser515Arg) c.1247C>A (n.1247C>A) c.*850C>A (n.*850C>A) n.369-73C>A c.1626C>A (p.Ser542Arg) c.1539C>A (p.Ser513Arg) c.1647C>A (p.Ser549Arg) c.1644C>A (p.Ser548Arg) c.1563C>A (p.Ser521Arg) c.1560C>A (p.Ser520Arg) | gnomAD v4 |
X | g.20165035C>A | CA412514305 | RPS6KA3 | c.1628G>T (p.Ser543Ile) c.1541G>T (p.Ser514Ile) c.1544G>T (p.Ser515Ile) c.1246G>T (n.1246G>T) c.*849G>T (n.*849G>T) n.369-74G>T c.1625G>T (p.Ser542Ile) c.1538G>T (p.Ser513Ile) c.1646G>T (p.Ser549Ile) c.1643G>T (p.Ser548Ile) c.1562G>T (p.Ser521Ile) c.1559G>T (p.Ser520Ile) | |
X | g.20165035C>G | CA412514304 | RPS6KA3 | c.1628G>C (p.Ser543Thr) c.1541G>C (p.Ser514Thr) c.1544G>C (p.Ser515Thr) c.1246G>C (n.1246G>C) c.*849G>C (n.*849G>C) n.369-74G>C c.1625G>C (p.Ser542Thr) c.1538G>C (p.Ser513Thr) c.1646G>C (p.Ser549Thr) c.1643G>C (p.Ser548Thr) c.1562G>C (p.Ser521Thr) c.1559G>C (p.Ser520Thr) | |
X | g.20165035C>T | CA412514303 | RPS6KA3 | c.1628G>A (p.Ser543Asn) c.1541G>A (p.Ser514Asn) c.1544G>A (p.Ser515Asn) c.1246G>A (n.1246G>A) c.*849G>A (n.*849G>A) n.369-74G>A c.1625G>A (p.Ser542Asn) c.1538G>A (p.Ser513Asn) c.1646G>A (p.Ser549Asn) c.1643G>A (p.Ser548Asn) c.1562G>A (p.Ser521Asn) c.1559G>A (p.Ser520Asn) | |
X | g.20165036T>A | CA412514306 | RPS6KA3 | c.1627A>T (p.Ser543Cys) c.1540A>T (p.Ser514Cys) c.1543A>T (p.Ser515Cys) c.1245A>T (n.1245A>T) c.*848A>T (n.*848A>T) n.369-75A>T c.1624A>T (p.Ser542Cys) c.1537A>T (p.Ser513Cys) c.1645A>T (p.Ser549Cys) c.1642A>T (p.Ser548Cys) c.1561A>T (p.Ser521Cys) c.1558A>T (p.Ser520Cys) | |
X | g.20165036T>C | CA412514307 | RPS6KA3 | c.1627A>G (p.Ser543Gly) c.1540A>G (p.Ser514Gly) c.1543A>G (p.Ser515Gly) c.1245A>G (n.1245A>G) c.*848A>G (n.*848A>G) n.369-75A>G c.1624A>G (p.Ser542Gly) c.1537A>G (p.Ser513Gly) c.1645A>G (p.Ser549Gly) c.1642A>G (p.Ser548Gly) c.1561A>G (p.Ser521Gly) c.1558A>G (p.Ser520Gly) | |
X | g.20165036T>G | CA412514308 | RPS6KA3 | c.1627A>C (p.Ser543Arg) c.1540A>C (p.Ser514Arg) c.1543A>C (p.Ser515Arg) c.1245A>C (n.1245A>C) c.*848A>C (n.*848A>C) n.369-75A>C c.1624A>C (p.Ser542Arg) c.1537A>C (p.Ser513Arg) c.1645A>C (p.Ser549Arg) c.1642A>C (p.Ser548Arg) c.1561A>C (p.Ser521Arg) c.1558A>C (p.Ser520Arg) | |
X | g.20165037A>C | CA515613845 | RPS6KA3 | c.1626T>G (p.Pro542=) c.1539T>G (p.Pro513=) c.1542T>G (p.Pro514=) c.1244T>G (n.1244T>G) c.*847T>G (n.*847T>G) n.369-76T>G c.1623T>G (p.Pro541=) c.1536T>G (p.Pro512=) c.1644T>G (p.Pro548=) c.1641T>G (p.Pro547=) c.1560T>G (p.Pro520=) c.1557T>G (p.Pro519=) | |
X | g.20165037A>G | CA515613847 | RPS6KA3 | c.1626T>C (p.Pro542=) c.1539T>C (p.Pro513=) c.1542T>C (p.Pro514=) c.1244T>C (n.1244T>C) c.*847T>C (n.*847T>C) n.369-76T>C c.1623T>C (p.Pro541=) c.1536T>C (p.Pro512=) c.1644T>C (p.Pro548=) c.1641T>C (p.Pro547=) c.1560T>C (p.Pro520=) c.1557T>C (p.Pro519=) | |
X | g.20165037A>T | CA515613848 | RPS6KA3 | c.1626T>A (p.Pro542=) c.1539T>A (p.Pro513=) c.1542T>A (p.Pro514=) c.1244T>A (n.1244T>A) c.*847T>A (n.*847T>A) n.369-76T>A c.1623T>A (p.Pro541=) c.1536T>A (p.Pro512=) c.1644T>A (p.Pro548=) c.1641T>A (p.Pro547=) c.1560T>A (p.Pro520=) c.1557T>A (p.Pro519=) | |
X | g.20165038G>A | CA10366081 | RPS6KA3 | c.1625C>T (p.Pro542Leu) c.1538C>T (p.Pro513Leu) c.1541C>T (p.Pro514Leu) c.1243C>T (n.1243C>T) c.*846C>T (n.*846C>T) n.369-77C>T c.1622C>T (p.Pro541Leu) c.1535C>T (p.Pro512Leu) c.1643C>T (p.Pro548Leu) c.1640C>T (p.Pro547Leu) c.1559C>T (p.Pro520Leu) c.1556C>T (p.Pro519Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20165038G>C | CA412514309 | RPS6KA3 | c.1625C>G (p.Pro542Arg) c.1538C>G (p.Pro513Arg) c.1541C>G (p.Pro514Arg) c.1243C>G (n.1243C>G) c.*846C>G (n.*846C>G) n.369-77C>G c.1622C>G (p.Pro541Arg) c.1535C>G (p.Pro512Arg) c.1643C>G (p.Pro548Arg) c.1640C>G (p.Pro547Arg) c.1559C>G (p.Pro520Arg) c.1556C>G (p.Pro519Arg) | |
X | g.20165038G= | CA2418505973 | RPS6KA3 | c.1625C= (p.Pro542=) c.1538C= (p.Pro513=) c.1541C= (p.Pro514=) c.1243C= (n.1243C=) c.*846C= (n.*846C=) n.369-77C= c.1622C= (p.Pro541=) c.1535C= (p.Pro512=) c.1643C= (p.Pro548=) c.1640C= (p.Pro547=) c.1559C= (p.Pro520=) c.1556C= (p.Pro519=) | |
X | g.20165038G>T | CA412514310 | RPS6KA3 | c.1625C>A (p.Pro542His) c.1538C>A (p.Pro513His) c.1541C>A (p.Pro514His) c.1243C>A (n.1243C>A) c.*846C>A (n.*846C>A) n.369-77C>A c.1622C>A (p.Pro541His) c.1535C>A (p.Pro512His) c.1643C>A (p.Pro548His) c.1640C>A (p.Pro547His) c.1559C>A (p.Pro520His) c.1556C>A (p.Pro519His) | dbSNP gnomAD v4 |
X | g.20165039G>A | CA412514311 | RPS6KA3 | c.1624C>T (p.Pro542Ser) c.1537C>T (p.Pro513Ser) c.1540C>T (p.Pro514Ser) c.1242C>T (n.1242C>T) c.*845C>T (n.*845C>T) n.369-78C>T c.1621C>T (p.Pro541Ser) c.1534C>T (p.Pro512Ser) c.1642C>T (p.Pro548Ser) c.1639C>T (p.Pro547Ser) c.1558C>T (p.Pro520Ser) c.1555C>T (p.Pro519Ser) | COSMIC |
X | g.20165039G>C | CA412514312 | RPS6KA3 | c.1624C>G (p.Pro542Ala) c.1537C>G (p.Pro513Ala) c.1540C>G (p.Pro514Ala) c.1242C>G (n.1242C>G) c.*845C>G (n.*845C>G) n.369-78C>G c.1621C>G (p.Pro541Ala) c.1534C>G (p.Pro512Ala) c.1642C>G (p.Pro548Ala) c.1639C>G (p.Pro547Ala) c.1558C>G (p.Pro520Ala) c.1555C>G (p.Pro519Ala) | |
X | g.20165039G>T | CA412514313 | RPS6KA3 | c.1624C>A (p.Pro542Thr) c.1537C>A (p.Pro513Thr) c.1540C>A (p.Pro514Thr) c.1242C>A (n.1242C>A) c.*845C>A (n.*845C>A) n.369-78C>A c.1621C>A (p.Pro541Thr) c.1534C>A (p.Pro512Thr) c.1642C>A (p.Pro548Thr) c.1639C>A (p.Pro547Thr) c.1558C>A (p.Pro520Thr) c.1555C>A (p.Pro519Thr) | gnomAD v4 |
X | g.20165040T>A | CA412514314 | RPS6KA3 | c.1623A>T (p.Lys541Asn) c.1536A>T (p.Lys512Asn) c.1539A>T (p.Lys513Asn) c.1241A>T (n.1241A>T) c.*844A>T (n.*844A>T) n.369-79A>T c.1620A>T (p.Lys540Asn) c.1533A>T (p.Lys511Asn) c.1641A>T (p.Lys547Asn) c.1638A>T (p.Lys546Asn) c.1557A>T (p.Lys519Asn) c.1554A>T (p.Lys518Asn) | |
X | g.20165040T>C | CA515613849 | RPS6KA3 | c.1623A>G (p.Lys541=) c.1536A>G (p.Lys512=) c.1539A>G (p.Lys513=) c.1241A>G (n.1241A>G) c.*844A>G (n.*844A>G) n.369-79A>G c.1620A>G (p.Lys540=) c.1533A>G (p.Lys511=) c.1641A>G (p.Lys547=) c.1638A>G (p.Lys546=) c.1557A>G (p.Lys519=) c.1554A>G (p.Lys518=) | |
X | g.20165040T>G | CA412514315 | RPS6KA3 | c.1623A>C (p.Lys541Asn) c.1536A>C (p.Lys512Asn) c.1539A>C (p.Lys513Asn) c.1241A>C (n.1241A>C) c.*844A>C (n.*844A>C) n.369-79A>C c.1620A>C (p.Lys540Asn) c.1533A>C (p.Lys511Asn) c.1641A>C (p.Lys547Asn) c.1638A>C (p.Lys546Asn) c.1557A>C (p.Lys519Asn) c.1554A>C (p.Lys518Asn) | |
X | g.20165041T>A | CA412514316 | RPS6KA3 | c.1622A>T (p.Lys541Ile) c.1535A>T (p.Lys512Ile) c.1538A>T (p.Lys513Ile) c.1240A>T (n.1240A>T) c.*843A>T (n.*843A>T) n.369-80A>T c.1619A>T (p.Lys540Ile) c.1532A>T (p.Lys511Ile) c.1640A>T (p.Lys547Ile) c.1637A>T (p.Lys546Ile) c.1556A>T (p.Lys519Ile) c.1553A>T (p.Lys518Ile) | |
X | g.20165041T>C | CA412514317 | RPS6KA3 | c.1622A>G (p.Lys541Arg) c.1535A>G (p.Lys512Arg) c.1538A>G (p.Lys513Arg) c.1240A>G (n.1240A>G) c.*843A>G (n.*843A>G) n.369-80A>G c.1619A>G (p.Lys540Arg) c.1532A>G (p.Lys511Arg) c.1640A>G (p.Lys547Arg) c.1637A>G (p.Lys546Arg) c.1556A>G (p.Lys519Arg) c.1553A>G (p.Lys518Arg) | |
X | g.20165041T>G | CA412514318 | RPS6KA3 | c.1622A>C (p.Lys541Thr) c.1535A>C (p.Lys512Thr) c.1538A>C (p.Lys513Thr) c.1240A>C (n.1240A>C) c.*843A>C (n.*843A>C) n.369-80A>C c.1619A>C (p.Lys540Thr) c.1532A>C (p.Lys511Thr) c.1640A>C (p.Lys547Thr) c.1637A>C (p.Lys546Thr) c.1556A>C (p.Lys519Thr) c.1553A>C (p.Lys518Thr) | gnomAD v4 |
X | g.20165041_20165044del | CA645601243 | RPS6KA3 | c.1619_1622del (p.Leu540TyrfsTer28) c.1532_1535del (p.Leu511TyrfsTer28) c.1535_1538del (p.Leu512TyrfsTer28) c.1237_1240del (n.1237_1240del) c.*840_*843del (n.*840_*843del) n.369-83_369-80del c.1616_1619del (p.Leu539TyrfsTer28) c.1529_1532del (p.Leu510TyrfsTer28) c.1637_1640del (p.Leu546TyrfsTer28) c.1634_1637del (p.Leu545TyrfsTer28) c.1553_1556del (p.Leu518TyrfsTer28) c.1550_1553del (p.Leu517TyrfsTer28) | COSMIC |
X | g.20165042T>A | CA412514320 | RPS6KA3 | c.1621A>T (p.Lys541Ter) c.1534A>T (p.Lys512Ter) c.1537A>T (p.Lys513Ter) c.1239A>T (n.1239A>T) c.*842A>T (n.*842A>T) n.369-81A>T c.1618A>T (p.Lys540Ter) c.1531A>T (p.Lys511Ter) c.1639A>T (p.Lys547Ter) c.1636A>T (p.Lys546Ter) c.1555A>T (p.Lys519Ter) c.1552A>T (p.Lys518Ter) | |
X | g.20165042T>C | CA412514321 | RPS6KA3 | c.1621A>G (p.Lys541Glu) c.1534A>G (p.Lys512Glu) c.1537A>G (p.Lys513Glu) c.1239A>G (n.1239A>G) c.*842A>G (n.*842A>G) n.369-81A>G c.1618A>G (p.Lys540Glu) c.1531A>G (p.Lys511Glu) c.1639A>G (p.Lys547Glu) c.1636A>G (p.Lys546Glu) c.1555A>G (p.Lys519Glu) c.1552A>G (p.Lys518Glu) | |
X | g.20165042T>G | CA412514319 | RPS6KA3 | c.1621A>C (p.Lys541Gln) c.1534A>C (p.Lys512Gln) c.1537A>C (p.Lys513Gln) c.1239A>C (n.1239A>C) c.*842A>C (n.*842A>C) n.369-81A>C c.1618A>C (p.Lys540Gln) c.1531A>C (p.Lys511Gln) c.1639A>C (p.Lys547Gln) c.1636A>C (p.Lys546Gln) c.1555A>C (p.Lys519Gln) c.1552A>C (p.Lys518Gln) | |
X | g.20165043C>A | CA412514322 | RPS6KA3 | c.1620G>T (p.Leu540Phe) c.1533G>T (p.Leu511Phe) c.1536G>T (p.Leu512Phe) c.1238G>T (n.1238G>T) c.*841G>T (n.*841G>T) n.369-82G>T c.1617G>T (p.Leu539Phe) c.1530G>T (p.Leu510Phe) c.1638G>T (p.Leu546Phe) c.1635G>T (p.Leu545Phe) c.1554G>T (p.Leu518Phe) c.1551G>T (p.Leu517Phe) | |
X | g.20165043C= | CA2418505974 | RPS6KA3 | c.1620G= (p.Leu540=) c.1533G= (p.Leu511=) c.1536G= (p.Leu512=) c.1238G= (n.1238G=) c.*841G= (n.*841G=) n.369-82G= c.1617G= (p.Leu539=) c.1530G= (p.Leu510=) c.1638G= (p.Leu546=) c.1635G= (p.Leu545=) c.1554G= (p.Leu518=) c.1551G= (p.Leu517=) | |
X | g.20165043C>G | CA412514323 | RPS6KA3 | c.1620G>C (p.Leu540Phe) c.1533G>C (p.Leu511Phe) c.1536G>C (p.Leu512Phe) c.1238G>C (n.1238G>C) c.*841G>C (n.*841G>C) n.369-82G>C c.1617G>C (p.Leu539Phe) c.1530G>C (p.Leu510Phe) c.1638G>C (p.Leu546Phe) c.1635G>C (p.Leu545Phe) c.1554G>C (p.Leu518Phe) c.1551G>C (p.Leu517Phe) | |
X | g.20165043C>T | CA327474165 | RPS6KA3 | c.1620G>A (p.Leu540=) c.1533G>A (p.Leu511=) c.1536G>A (p.Leu512=) c.1238G>A (n.1238G>A) c.*841G>A (n.*841G>A) n.369-82G>A c.1617G>A (p.Leu539=) c.1530G>A (p.Leu510=) c.1638G>A (p.Leu546=) c.1635G>A (p.Leu545=) c.1554G>A (p.Leu518=) c.1551G>A (p.Leu517=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.20165044A>C | CA412514324 | RPS6KA3 | c.1619T>G (p.Leu540Trp) c.1532T>G (p.Leu511Trp) c.1535T>G (p.Leu512Trp) c.1237T>G (n.1237T>G) c.*840T>G (n.*840T>G) n.369-83T>G c.1616T>G (p.Leu539Trp) c.1529T>G (p.Leu510Trp) c.1637T>G (p.Leu546Trp) c.1634T>G (p.Leu545Trp) c.1553T>G (p.Leu518Trp) c.1550T>G (p.Leu517Trp) | |
X | g.20165044A>G | CA412514325 | RPS6KA3 | c.1619T>C (p.Leu540Ser) c.1532T>C (p.Leu511Ser) c.1535T>C (p.Leu512Ser) c.1237T>C (n.1237T>C) c.*840T>C (n.*840T>C) n.369-83T>C c.1616T>C (p.Leu539Ser) c.1529T>C (p.Leu510Ser) c.1637T>C (p.Leu546Ser) c.1634T>C (p.Leu545Ser) c.1553T>C (p.Leu518Ser) c.1550T>C (p.Leu517Ser) | |
X | g.20165044A>T | CA412514326 | RPS6KA3 | c.1619T>A (p.Leu540Ter) c.1532T>A (p.Leu511Ter) c.1535T>A (p.Leu512Ter) c.1237T>A (n.1237T>A) c.*840T>A (n.*840T>A) n.369-83T>A c.1616T>A (p.Leu539Ter) c.1529T>A (p.Leu510Ter) c.1637T>A (p.Leu546Ter) c.1634T>A (p.Leu545Ter) c.1553T>A (p.Leu518Ter) c.1550T>A (p.Leu517Ter) | |
X | g.20165044_20165045insG | CA2819943730 | RPS6KA3 | c.1618_1619insC (p.Leu540SerfsTer4) c.1531_1532insC (p.Leu511SerfsTer4) c.1534_1535insC (p.Leu512SerfsTer4) c.1236_1237insC (n.1236_1237insC) c.*839_*840insC (n.*839_*840insC) n.369-84_369-83insC c.1615_1616insC (p.Leu539SerfsTer4) c.1528_1529insC (p.Leu510SerfsTer4) c.1636_1637insC (p.Leu546SerfsTer4) c.1633_1634insC (p.Leu545SerfsTer4) c.1552_1553insC (p.Leu518SerfsTer4) c.1549_1550insC (p.Leu517SerfsTer4) | |
X | g.20165045A>C | CA412514327 | RPS6KA3 | c.1618T>G (p.Leu540Val) c.1531T>G (p.Leu511Val) c.1534T>G (p.Leu512Val) c.1236T>G (n.1236T>G) c.*839T>G (n.*839T>G) n.369-84T>G c.1615T>G (p.Leu539Val) c.1528T>G (p.Leu510Val) c.1636T>G (p.Leu546Val) c.1633T>G (p.Leu545Val) c.1552T>G (p.Leu518Val) c.1549T>G (p.Leu517Val) | |
X | g.20165045A>G | CA515613852 | RPS6KA3 | c.1618T>C (p.Leu540=) c.1531T>C (p.Leu511=) c.1534T>C (p.Leu512=) c.1236T>C (n.1236T>C) c.*839T>C (n.*839T>C) n.369-84T>C c.1615T>C (p.Leu539=) c.1528T>C (p.Leu510=) c.1636T>C (p.Leu546=) c.1633T>C (p.Leu545=) c.1552T>C (p.Leu518=) c.1549T>C (p.Leu517=) | gnomAD v4 |
X | g.20165045A>T | CA412514328 | RPS6KA3 | c.1618T>A (p.Leu540Met) c.1531T>A (p.Leu511Met) c.1534T>A (p.Leu512Met) c.1236T>A (n.1236T>A) c.*839T>A (n.*839T>A) n.369-84T>A c.1615T>A (p.Leu539Met) c.1528T>A (p.Leu510Met) c.1636T>A (p.Leu546Met) c.1633T>A (p.Leu545Met) c.1552T>A (p.Leu518Met) c.1549T>A (p.Leu517Met) | |
X | g.20165046G>A | CA515613855 | RPS6KA3 | c.1617C>T (p.Asp539=) c.1530C>T (p.Asp510=) c.1533C>T (p.Asp511=) c.1235C>T (n.1235C>T) c.*838C>T (n.*838C>T) n.369-85C>T c.1614C>T (p.Asp538=) c.1527C>T (p.Asp509=) c.1635C>T (p.Asp545=) c.1632C>T (p.Asp544=) c.1551C>T (p.Asp517=) c.1548C>T (p.Asp516=) | |
X | g.20165046G>C | CA412514329 | RPS6KA3 | c.1617C>G (p.Asp539Glu) c.1530C>G (p.Asp510Glu) c.1533C>G (p.Asp511Glu) c.1235C>G (n.1235C>G) c.*838C>G (n.*838C>G) n.369-85C>G c.1614C>G (p.Asp538Glu) c.1527C>G (p.Asp509Glu) c.1635C>G (p.Asp545Glu) c.1632C>G (p.Asp544Glu) c.1551C>G (p.Asp517Glu) c.1548C>G (p.Asp516Glu) | |
X | g.20165046G>T | CA412514330 | RPS6KA3 | c.1617C>A (p.Asp539Glu) c.1530C>A (p.Asp510Glu) c.1533C>A (p.Asp511Glu) c.1235C>A (n.1235C>A) c.*838C>A (n.*838C>A) n.369-85C>A c.1614C>A (p.Asp538Glu) c.1527C>A (p.Asp509Glu) c.1635C>A (p.Asp545Glu) c.1632C>A (p.Asp544Glu) c.1551C>A (p.Asp517Glu) c.1548C>A (p.Asp516Glu) | gnomAD v4 |
X | g.20165047T>A | CA412514331 | RPS6KA3 | c.1616A>T (p.Asp539Val) c.1529A>T (p.Asp510Val) c.1532A>T (p.Asp511Val) c.1234A>T (n.1234A>T) c.*837A>T (n.*837A>T) n.369-86A>T c.1613A>T (p.Asp538Val) c.1526A>T (p.Asp509Val) c.1634A>T (p.Asp545Val) c.1631A>T (p.Asp544Val) c.1550A>T (p.Asp517Val) c.1547A>T (p.Asp516Val) | |
X | g.20165047T>C | CA412514332 | RPS6KA3 | c.1616A>G (p.Asp539Gly) c.1529A>G (p.Asp510Gly) c.1532A>G (p.Asp511Gly) c.1234A>G (n.1234A>G) c.*837A>G (n.*837A>G) n.369-86A>G c.1613A>G (p.Asp538Gly) c.1526A>G (p.Asp509Gly) c.1634A>G (p.Asp545Gly) c.1631A>G (p.Asp544Gly) c.1550A>G (p.Asp517Gly) c.1547A>G (p.Asp516Gly) | |
X | g.20165047T>G | CA412514333 | RPS6KA3 | c.1616A>C (p.Asp539Ala) c.1529A>C (p.Asp510Ala) c.1532A>C (p.Asp511Ala) c.1234A>C (n.1234A>C) c.*837A>C (n.*837A>C) n.369-86A>C c.1613A>C (p.Asp538Ala) c.1526A>C (p.Asp509Ala) c.1634A>C (p.Asp545Ala) c.1631A>C (p.Asp544Ala) c.1550A>C (p.Asp517Ala) c.1547A>C (p.Asp516Ala) | |
X | g.20165048C>A | CA412514334 | RPS6KA3 | c.1615G>T (p.Asp539Tyr) c.1528G>T (p.Asp510Tyr) c.1531G>T (p.Asp511Tyr) c.1233G>T (n.1233G>T) c.*836G>T (n.*836G>T) n.369-87G>T c.1612G>T (p.Asp538Tyr) c.1525G>T (p.Asp509Tyr) c.1633G>T (p.Asp545Tyr) c.1630G>T (p.Asp544Tyr) c.1549G>T (p.Asp517Tyr) c.1546G>T (p.Asp516Tyr) | |
X | g.20165048C>G | CA412514336 | RPS6KA3 | c.1615G>C (p.Asp539His) c.1528G>C (p.Asp510His) c.1531G>C (p.Asp511His) c.1233G>C (n.1233G>C) c.*836G>C (n.*836G>C) n.369-87G>C c.1612G>C (p.Asp538His) c.1525G>C (p.Asp509His) c.1633G>C (p.Asp545His) c.1630G>C (p.Asp544His) c.1549G>C (p.Asp517His) c.1546G>C (p.Asp516His) | |
X | g.20165048C>T | CA412514335 | RPS6KA3 | c.1615G>A (p.Asp539Asn) c.1528G>A (p.Asp510Asn) c.1531G>A (p.Asp511Asn) c.1233G>A (n.1233G>A) c.*836G>A (n.*836G>A) n.369-87G>A c.1612G>A (p.Asp538Asn) c.1525G>A (p.Asp509Asn) c.1633G>A (p.Asp545Asn) c.1630G>A (p.Asp544Asn) c.1549G>A (p.Asp517Asn) c.1546G>A (p.Asp516Asn) | |
X | g.20165049T>A | CA412514337 | RPS6KA3 | c.1614A>T (p.Arg538Ser) c.1527A>T (p.Arg509Ser) c.1530A>T (p.Arg510Ser) c.1232A>T (n.1232A>T) c.*835A>T (n.*835A>T) n.369-88A>T c.1611A>T (p.Arg537Ser) c.1524A>T (p.Arg508Ser) c.1632A>T (p.Arg544Ser) c.1629A>T (p.Arg543Ser) c.1548A>T (p.Arg516Ser) c.1545A>T (p.Arg515Ser) | |
X | g.20165049T>C | CA515613856 | RPS6KA3 | c.1614A>G (p.Arg538=) c.1527A>G (p.Arg509=) c.1530A>G (p.Arg510=) c.1232A>G (n.1232A>G) c.*835A>G (n.*835A>G) n.369-88A>G c.1611A>G (p.Arg537=) c.1524A>G (p.Arg508=) c.1632A>G (p.Arg544=) c.1629A>G (p.Arg543=) c.1548A>G (p.Arg516=) c.1545A>G (p.Arg515=) | |
X | g.20165049T>G | CA412514338 | RPS6KA3 | c.1614A>C (p.Arg538Ser) c.1527A>C (p.Arg509Ser) c.1530A>C (p.Arg510Ser) c.1232A>C (n.1232A>C) c.*835A>C (n.*835A>C) n.369-88A>C c.1611A>C (p.Arg537Ser) c.1524A>C (p.Arg508Ser) c.1632A>C (p.Arg544Ser) c.1629A>C (p.Arg543Ser) c.1548A>C (p.Arg516Ser) c.1545A>C (p.Arg515Ser) | |
X | g.20165050C>A | CA412514339 | RPS6KA3 | c.1613G>T (p.Arg538Ile) c.1526G>T (p.Arg509Ile) c.1529G>T (p.Arg510Ile) c.1231G>T (n.1231G>T) c.*834G>T (n.*834G>T) n.369-89G>T c.1610G>T (p.Arg537Ile) c.1523G>T (p.Arg508Ile) c.1631G>T (p.Arg544Ile) c.1628G>T (p.Arg543Ile) c.1547G>T (p.Arg516Ile) c.1544G>T (p.Arg515Ile) | |
X | g.20165050C>G | CA412514340 | RPS6KA3 | c.1613G>C (p.Arg538Thr) c.1526G>C (p.Arg509Thr) c.1529G>C (p.Arg510Thr) c.1231G>C (n.1231G>C) c.*834G>C (n.*834G>C) n.369-89G>C c.1610G>C (p.Arg537Thr) c.1523G>C (p.Arg508Thr) c.1631G>C (p.Arg544Thr) c.1628G>C (p.Arg543Thr) c.1547G>C (p.Arg516Thr) c.1544G>C (p.Arg515Thr) | COSMIC |
X | g.20165050C>T | CA412514341 | RPS6KA3 | c.1613G>A (p.Arg538Lys) c.1526G>A (p.Arg509Lys) c.1529G>A (p.Arg510Lys) c.1231G>A (n.1231G>A) c.*834G>A (n.*834G>A) n.369-89G>A c.1610G>A (p.Arg537Lys) c.1523G>A (p.Arg508Lys) c.1631G>A (p.Arg544Lys) c.1628G>A (p.Arg543Lys) c.1547G>A (p.Arg516Lys) c.1544G>A (p.Arg515Lys) | |
X | g.20165050_20165051delinsCT | CA2418505975 | RPS6KA3 | c.1612_1613delinsAG (p.Arg538=) c.1525_1526delinsAG (p.Arg509=) c.1528_1529delinsAG (p.Arg510=) c.1230_1231delinsAG (n.1230_1231delinsAG) c.*833_*834delinsAG (n.*833_*834delinsAG) n.369-90_369-89delinsAG c.1609_1610delinsAG (p.Arg537=) c.1522_1523delinsAG (p.Arg508=) c.1630_1631delinsAG (p.Arg544=) c.1627_1628delinsAG (p.Arg543=) c.1546_1547delinsAG (p.Arg516=) c.1543_1544delinsAG (p.Arg515=) | |
X | g.20165051del | CA1139667267 | RPS6KA3 | c.1612del (p.Arg538GlufsTer3) c.1525del (p.Arg509GlufsTer3) c.1528del (p.Arg510GlufsTer3) c.1230del (n.1230del) c.*833del (n.*833del) n.369-90del c.1609del (p.Arg537GlufsTer3) c.1522del (p.Arg508GlufsTer3) c.1630del (p.Arg544GlufsTer3) c.1627del (p.Arg543GlufsTer3) c.1546del (p.Arg516GlufsTer3) c.1543del (p.Arg515GlufsTer3) | ClinVar dbSNP |
X | g.20165051T>A | CA412514342 | RPS6KA3 | c.1612A>T (p.Arg538Ter) c.1525A>T (p.Arg509Ter) c.1528A>T (p.Arg510Ter) c.1230A>T (n.1230A>T) c.*833A>T (n.*833A>T) n.369-90A>T c.1609A>T (p.Arg537Ter) c.1522A>T (p.Arg508Ter) c.1630A>T (p.Arg544Ter) c.1627A>T (p.Arg543Ter) c.1546A>T (p.Arg516Ter) c.1543A>T (p.Arg515Ter) | |
X | g.20165051T>C | CA412514343 | RPS6KA3 | c.1612A>G (p.Arg538Gly) c.1525A>G (p.Arg509Gly) c.1528A>G (p.Arg510Gly) c.1230A>G (n.1230A>G) c.*833A>G (n.*833A>G) n.369-90A>G c.1609A>G (p.Arg537Gly) c.1522A>G (p.Arg508Gly) c.1630A>G (p.Arg544Gly) c.1627A>G (p.Arg543Gly) c.1546A>G (p.Arg516Gly) c.1543A>G (p.Arg515Gly) | gnomAD v4 |
X | g.20165051T>G | CA515613857 | RPS6KA3 | c.1612A>C (p.Arg538=) c.1525A>C (p.Arg509=) c.1528A>C (p.Arg510=) c.1230A>C (n.1230A>C) c.*833A>C (n.*833A>C) n.369-90A>C c.1609A>C (p.Arg537=) c.1522A>C (p.Arg508=) c.1630A>C (p.Arg544=) c.1627A>C (p.Arg543=) c.1546A>C (p.Arg516=) c.1543A>C (p.Arg515=) | |
X | g.20165052A= | CA2418505976 | RPS6KA3 | c.1611T= (p.His537=) c.1524T= (p.His508=) c.1527T= (p.His509=) c.1229T= (n.1229T=) c.*832T= (n.*832T=) n.369-91T= c.1608T= (p.His536=) c.1521T= (p.His507=) c.1629T= (p.His543=) c.1626T= (p.His542=) c.1545T= (p.His515=) c.1542T= (p.His514=) | |
X | g.20165052A>C | CA412514344 | RPS6KA3 | c.1611T>G (p.His537Gln) c.1524T>G (p.His508Gln) c.1527T>G (p.His509Gln) c.1229T>G (n.1229T>G) c.*832T>G (n.*832T>G) n.369-91T>G c.1608T>G (p.His536Gln) c.1521T>G (p.His507Gln) c.1629T>G (p.His543Gln) c.1626T>G (p.His542Gln) c.1545T>G (p.His515Gln) c.1542T>G (p.His514Gln) | |
X | g.20165052A>G | CA10366082 | RPS6KA3 | c.1611T>C (p.His537=) c.1524T>C (p.His508=) c.1527T>C (p.His509=) c.1229T>C (n.1229T>C) c.*832T>C (n.*832T>C) n.369-91T>C c.1608T>C (p.His536=) c.1521T>C (p.His507=) c.1629T>C (p.His543=) c.1626T>C (p.His542=) c.1545T>C (p.His515=) c.1542T>C (p.His514=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20165052A>T | CA412514345 | RPS6KA3 | c.1611T>A (p.His537Gln) c.1524T>A (p.His508Gln) c.1527T>A (p.His509Gln) c.1229T>A (n.1229T>A) c.*832T>A (n.*832T>A) n.369-91T>A c.1608T>A (p.His536Gln) c.1521T>A (p.His507Gln) c.1629T>A (p.His543Gln) c.1626T>A (p.His542Gln) c.1545T>A (p.His515Gln) c.1542T>A (p.His514Gln) | |
X | g.20165053T>A | CA412514346 | RPS6KA3 | c.1610A>T (p.His537Leu) c.1523A>T (p.His508Leu) c.1526A>T (p.His509Leu) c.1228A>T (n.1228A>T) c.*831A>T (n.*831A>T) n.369-92A>T c.1607A>T (p.His536Leu) c.1520A>T (p.His507Leu) c.1628A>T (p.His543Leu) c.1625A>T (p.His542Leu) c.1544A>T (p.His515Leu) c.1541A>T (p.His514Leu) | |
X | g.20165053T>C | CA412514348 | RPS6KA3 | c.1610A>G (p.His537Arg) c.1523A>G (p.His508Arg) c.1526A>G (p.His509Arg) c.1228A>G (n.1228A>G) c.*831A>G (n.*831A>G) n.369-92A>G c.1607A>G (p.His536Arg) c.1520A>G (p.His507Arg) c.1628A>G (p.His543Arg) c.1625A>G (p.His542Arg) c.1544A>G (p.His515Arg) c.1541A>G (p.His514Arg) | |
X | g.20165053T>G | CA412514347 | RPS6KA3 | c.1610A>C (p.His537Pro) c.1523A>C (p.His508Pro) c.1526A>C (p.His509Pro) c.1228A>C (n.1228A>C) c.*831A>C (n.*831A>C) n.369-92A>C c.1607A>C (p.His536Pro) c.1520A>C (p.His507Pro) c.1628A>C (p.His543Pro) c.1625A>C (p.His542Pro) c.1544A>C (p.His515Pro) c.1541A>C (p.His514Pro) | |
X | g.20165054G>A | CA412514349 | RPS6KA3 | c.1609C>T (p.His537Tyr) c.1522C>T (p.His508Tyr) c.1525C>T (p.His509Tyr) c.1227C>T (n.1227C>T) c.*830C>T (n.*830C>T) n.369-93C>T c.1606C>T (p.His536Tyr) c.1519C>T (p.His507Tyr) c.1627C>T (p.His543Tyr) c.1624C>T (p.His542Tyr) c.1543C>T (p.His515Tyr) c.1540C>T (p.His514Tyr) | |
X | g.20165054G>C | CA412514351 | RPS6KA3 | c.1609C>G (p.His537Asp) c.1522C>G (p.His508Asp) c.1525C>G (p.His509Asp) c.1227C>G (n.1227C>G) c.*830C>G (n.*830C>G) n.369-93C>G c.1606C>G (p.His536Asp) c.1519C>G (p.His507Asp) c.1627C>G (p.His543Asp) c.1624C>G (p.His542Asp) c.1543C>G (p.His515Asp) c.1540C>G (p.His514Asp) | |
X | g.20165054G>T | CA412514350 | RPS6KA3 | c.1609C>A (p.His537Asn) c.1522C>A (p.His508Asn) c.1525C>A (p.His509Asn) c.1227C>A (n.1227C>A) c.*830C>A (n.*830C>A) n.369-93C>A c.1606C>A (p.His536Asn) c.1519C>A (p.His507Asn) c.1627C>A (p.His543Asn) c.1624C>A (p.His542Asn) c.1543C>A (p.His515Asn) c.1540C>A (p.His514Asn) | gnomAD v4 |
X | g.20165055A>C | CA515613859 | RPS6KA3 | c.1608T>G (p.Val536=) c.1521T>G (p.Val507=) c.1524T>G (p.Val508=) c.1226T>G (n.1226T>G) c.*829T>G (n.*829T>G) n.369-94T>G c.1605T>G (p.Val535=) c.1518T>G (p.Val506=) c.1626T>G (p.Val542=) c.1623T>G (p.Val541=) c.1542T>G (p.Val514=) c.1539T>G (p.Val513=) | |
X | g.20165055A>G | CA515613860 | RPS6KA3 | c.1608T>C (p.Val536=) c.1521T>C (p.Val507=) c.1524T>C (p.Val508=) c.1226T>C (n.1226T>C) c.*829T>C (n.*829T>C) n.369-94T>C c.1605T>C (p.Val535=) c.1518T>C (p.Val506=) c.1626T>C (p.Val542=) c.1623T>C (p.Val541=) c.1542T>C (p.Val514=) c.1539T>C (p.Val513=) | |
X | g.20165055A>T | CA515613861 | RPS6KA3 | c.1608T>A (p.Val536=) c.1521T>A (p.Val507=) c.1524T>A (p.Val508=) c.1226T>A (n.1226T>A) c.*829T>A (n.*829T>A) n.369-94T>A c.1605T>A (p.Val535=) c.1518T>A (p.Val506=) c.1626T>A (p.Val542=) c.1623T>A (p.Val541=) c.1542T>A (p.Val514=) c.1539T>A (p.Val513=) | |
X | g.20165056A>C | CA412514352 | RPS6KA3 | c.1607T>G (p.Val536Gly) c.1520T>G (p.Val507Gly) c.1523T>G (p.Val508Gly) c.1225T>G (n.1225T>G) c.*828T>G (n.*828T>G) n.369-95T>G c.1604T>G (p.Val535Gly) c.1517T>G (p.Val506Gly) c.1625T>G (p.Val542Gly) c.1622T>G (p.Val541Gly) c.1541T>G (p.Val514Gly) c.1538T>G (p.Val513Gly) | |
X | g.20165056A>G | CA412514354 | RPS6KA3 | c.1607T>C (p.Val536Ala) c.1520T>C (p.Val507Ala) c.1523T>C (p.Val508Ala) c.1225T>C (n.1225T>C) c.*828T>C (n.*828T>C) n.369-95T>C c.1604T>C (p.Val535Ala) c.1517T>C (p.Val506Ala) c.1625T>C (p.Val542Ala) c.1622T>C (p.Val541Ala) c.1541T>C (p.Val514Ala) c.1538T>C (p.Val513Ala) | |
X | g.20165056A>T | CA412514353 | RPS6KA3 | c.1607T>A (p.Val536Asp) c.1520T>A (p.Val507Asp) c.1523T>A (p.Val508Asp) c.1225T>A (n.1225T>A) c.*828T>A (n.*828T>A) n.369-95T>A c.1604T>A (p.Val535Asp) c.1517T>A (p.Val506Asp) c.1625T>A (p.Val542Asp) c.1622T>A (p.Val541Asp) c.1541T>A (p.Val514Asp) c.1538T>A (p.Val513Asp) | |
X | g.20165057C>A | CA16609163 | RPS6KA3 | c.1606G>T (p.Val536Phe) c.1519G>T (p.Val507Phe) c.1522G>T (p.Val508Phe) c.1224G>T (n.1224G>T) c.*827G>T (n.*827G>T) n.369-96G>T c.1603G>T (p.Val535Phe) c.1516G>T (p.Val506Phe) c.1624G>T (p.Val542Phe) c.1621G>T (p.Val541Phe) c.1540G>T (p.Val514Phe) c.1537G>T (p.Val513Phe) | ClinVar dbSNP |
X | g.20165057C= | CA2418505977 | RPS6KA3 | c.1606G= (p.Val536=) c.1519G= (p.Val507=) c.1522G= (p.Val508=) c.1224G= (n.1224G=) c.*827G= (n.*827G=) n.369-96G= c.1603G= (p.Val535=) c.1516G= (p.Val506=) c.1624G= (p.Val542=) c.1621G= (p.Val541=) c.1540G= (p.Val514=) c.1537G= (p.Val513=) | |
X | g.20165057C>G | CA412514356 | RPS6KA3 | c.1606G>C (p.Val536Leu) c.1519G>C (p.Val507Leu) c.1522G>C (p.Val508Leu) c.1224G>C (n.1224G>C) c.*827G>C (n.*827G>C) n.369-96G>C c.1603G>C (p.Val535Leu) c.1516G>C (p.Val506Leu) c.1624G>C (p.Val542Leu) c.1621G>C (p.Val541Leu) c.1540G>C (p.Val514Leu) c.1537G>C (p.Val513Leu) | |
X | g.20165057C>T | CA412514355 | RPS6KA3 | c.1606G>A (p.Val536Ile) c.1519G>A (p.Val507Ile) c.1522G>A (p.Val508Ile) c.1224G>A (n.1224G>A) c.*827G>A (n.*827G>A) n.369-96G>A c.1603G>A (p.Val535Ile) c.1516G>A (p.Val506Ile) c.1624G>A (p.Val542Ile) c.1621G>A (p.Val541Ile) c.1540G>A (p.Val514Ile) c.1537G>A (p.Val513Ile) | |
X | g.20165058del | CA2695200162 | RPS6KA3 | c.1606del (p.Val536PhefsTer5) c.1519del (p.Val507PhefsTer5) c.1522del (p.Val508PhefsTer5) c.1224del (n.1224del) c.*827del (n.*827del) n.369-96del c.1603del (p.Val535PhefsTer5) c.1516del (p.Val506PhefsTer5) c.1624del (p.Val542PhefsTer5) c.1621del (p.Val541PhefsTer5) c.1540del (p.Val514PhefsTer5) c.1537del (p.Val513PhefsTer5) | ClinVar |
X | g.20165058C>A | CA515613862 | RPS6KA3 | c.1605G>T (p.Val535=) c.1518G>T (p.Val506=) c.1521G>T (p.Val507=) c.1223G>T (n.1223G>T) c.*826G>T (n.*826G>T) n.369-97G>T c.1602G>T (p.Val534=) c.1515G>T (p.Val505=) c.1623G>T (p.Val541=) c.1620G>T (p.Val540=) c.1539G>T (p.Val513=) c.1536G>T (p.Val512=) | |
X | g.20165058C= | CA2418505978 | RPS6KA3 | c.1605G= (p.Val535=) c.1518G= (p.Val506=) c.1521G= (p.Val507=) c.1223G= (n.1223G=) c.*826G= (n.*826G=) n.369-97G= c.1602G= (p.Val534=) c.1515G= (p.Val505=) c.1623G= (p.Val541=) c.1620G= (p.Val540=) c.1539G= (p.Val513=) c.1536G= (p.Val512=) | |
X | g.20165058C>G | CA515613863 | RPS6KA3 | c.1605G>C (p.Val535=) c.1518G>C (p.Val506=) c.1521G>C (p.Val507=) c.1223G>C (n.1223G>C) c.*826G>C (n.*826G>C) n.369-97G>C c.1602G>C (p.Val534=) c.1515G>C (p.Val505=) c.1623G>C (p.Val541=) c.1620G>C (p.Val540=) c.1539G>C (p.Val513=) c.1536G>C (p.Val512=) | |
X | g.20165058C>T | CA10366083 | RPS6KA3 | c.1605G>A (p.Val535=) c.1518G>A (p.Val506=) c.1521G>A (p.Val507=) c.1223G>A (n.1223G>A) c.*826G>A (n.*826G>A) n.369-97G>A c.1602G>A (p.Val534=) c.1515G>A (p.Val505=) c.1623G>A (p.Val541=) c.1620G>A (p.Val540=) c.1539G>A (p.Val513=) c.1536G>A (p.Val512=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20165059A>C | CA412514359 | RPS6KA3 | c.1604T>G (p.Val535Gly) c.1517T>G (p.Val506Gly) c.1520T>G (p.Val507Gly) c.1222T>G (n.1222T>G) c.*825T>G (n.*825T>G) n.369-98T>G c.1601T>G (p.Val534Gly) c.1514T>G (p.Val505Gly) c.1622T>G (p.Val541Gly) c.1619T>G (p.Val540Gly) c.1538T>G (p.Val513Gly) c.1535T>G (p.Val512Gly) | |
X | g.20165059A>G | CA412514357 | RPS6KA3 | c.1604T>C (p.Val535Ala) c.1517T>C (p.Val506Ala) c.1520T>C (p.Val507Ala) c.1222T>C (n.1222T>C) c.*825T>C (n.*825T>C) n.369-98T>C c.1601T>C (p.Val534Ala) c.1514T>C (p.Val505Ala) c.1622T>C (p.Val541Ala) c.1619T>C (p.Val540Ala) c.1538T>C (p.Val513Ala) c.1535T>C (p.Val512Ala) | |
X | g.20165059A>T | CA412514358 | RPS6KA3 | c.1604T>A (p.Val535Glu) c.1517T>A (p.Val506Glu) c.1520T>A (p.Val507Glu) c.1222T>A (n.1222T>A) c.*825T>A (n.*825T>A) n.369-98T>A c.1601T>A (p.Val534Glu) c.1514T>A (p.Val505Glu) c.1622T>A (p.Val541Glu) c.1619T>A (p.Val540Glu) c.1538T>A (p.Val513Glu) c.1535T>A (p.Val512Glu) | |
X | g.20165060C>A | CA412514360 | RPS6KA3 | c.1603G>T (p.Val535Leu) c.1516G>T (p.Val506Leu) c.1519G>T (p.Val507Leu) c.1221G>T (n.1221G>T) c.*824G>T (n.*824G>T) n.369-99G>T c.1600G>T (p.Val534Leu) c.1513G>T (p.Val505Leu) c.1621G>T (p.Val541Leu) c.1618G>T (p.Val540Leu) c.1537G>T (p.Val513Leu) c.1534G>T (p.Val512Leu) | |
X | g.20165060C>G | CA412514361 | RPS6KA3 | c.1603G>C (p.Val535Leu) c.1516G>C (p.Val506Leu) c.1519G>C (p.Val507Leu) c.1221G>C (n.1221G>C) c.*824G>C (n.*824G>C) n.369-99G>C c.1600G>C (p.Val534Leu) c.1513G>C (p.Val505Leu) c.1621G>C (p.Val541Leu) c.1618G>C (p.Val540Leu) c.1537G>C (p.Val513Leu) c.1534G>C (p.Val512Leu) | |
X | g.20165060C>T | CA412514362 | RPS6KA3 | c.1603G>A (p.Val535Met) c.1516G>A (p.Val506Met) c.1519G>A (p.Val507Met) c.1221G>A (n.1221G>A) c.*824G>A (n.*824G>A) n.369-99G>A c.1600G>A (p.Val534Met) c.1513G>A (p.Val505Met) c.1621G>A (p.Val541Met) c.1618G>A (p.Val540Met) c.1537G>A (p.Val513Met) c.1534G>A (p.Val512Met) | |
X | g.20165061C>A | CA412514363 | RPS6KA3 | c.1603-1G>T (n.1603-1G>T) c.1516-1G>T (n.1516-1G>T) c.1519-1G>T (n.1519-1G>T) c.1221-1G>T (n.1221-1G>T) c.*824-1G>T (n.*824-1G>T) n.369-100G>T c.1600-1G>T (n.1600-1G>T) c.1513-1G>T (n.1513-1G>T) c.1621-1G>T (n.1621-1G>T) c.1618-1G>T (n.1618-1G>T) c.1537-1G>T (n.1537-1G>T) c.1534-1G>T (n.1534-1G>T) | |
X | g.20165061C>G | CA412514364 | RPS6KA3 | c.1603-1G>C (n.1603-1G>C) c.1516-1G>C (n.1516-1G>C) c.1519-1G>C (n.1519-1G>C) c.1221-1G>C (n.1221-1G>C) c.*824-1G>C (n.*824-1G>C) n.369-100G>C c.1600-1G>C (n.1600-1G>C) c.1513-1G>C (n.1513-1G>C) c.1621-1G>C (n.1621-1G>C) c.1618-1G>C (n.1618-1G>C) c.1537-1G>C (n.1537-1G>C) c.1534-1G>C (n.1534-1G>C) | |
X | g.20165061C>T | CA412514365 | RPS6KA3 | c.1603-1G>A (n.1603-1G>A) c.1516-1G>A (n.1516-1G>A) c.1519-1G>A (n.1519-1G>A) c.1221-1G>A (n.1221-1G>A) c.*824-1G>A (n.*824-1G>A) n.369-100G>A c.1600-1G>A (n.1600-1G>A) c.1513-1G>A (n.1513-1G>A) c.1621-1G>A (n.1621-1G>A) c.1618-1G>A (n.1618-1G>A) c.1537-1G>A (n.1537-1G>A) c.1534-1G>A (n.1534-1G>A) | |
X | g.20165062T>A | CA412514366 | RPS6KA3 | c.1603-2A>T (n.1603-2A>T) c.1516-2A>T (n.1516-2A>T) c.1519-2A>T (n.1519-2A>T) c.1221-2A>T (n.1221-2A>T) c.*824-2A>T (n.*824-2A>T) n.369-101A>T c.1600-2A>T (n.1600-2A>T) c.1513-2A>T (n.1513-2A>T) c.1621-2A>T (n.1621-2A>T) c.1618-2A>T (n.1618-2A>T) c.1537-2A>T (n.1537-2A>T) c.1534-2A>T (n.1534-2A>T) | |
X | g.20165062T>C | CA412514367 | RPS6KA3 | c.1603-2A>G (n.1603-2A>G) c.1516-2A>G (n.1516-2A>G) c.1519-2A>G (n.1519-2A>G) c.1221-2A>G (n.1221-2A>G) c.*824-2A>G (n.*824-2A>G) n.369-101A>G c.1600-2A>G (n.1600-2A>G) c.1513-2A>G (n.1513-2A>G) c.1621-2A>G (n.1621-2A>G) c.1618-2A>G (n.1618-2A>G) c.1537-2A>G (n.1537-2A>G) c.1534-2A>G (n.1534-2A>G) | gnomAD v4 |
X | g.20165062T>G | CA412514368 | RPS6KA3 | c.1603-2A>C (n.1603-2A>C) c.1516-2A>C (n.1516-2A>C) c.1519-2A>C (n.1519-2A>C) c.1221-2A>C (n.1221-2A>C) c.*824-2A>C (n.*824-2A>C) n.369-101A>C c.1600-2A>C (n.1600-2A>C) c.1513-2A>C (n.1513-2A>C) c.1621-2A>C (n.1621-2A>C) c.1618-2A>C (n.1618-2A>C) c.1537-2A>C (n.1537-2A>C) c.1534-2A>C (n.1534-2A>C) | |
X | g.20165065T>C | CA891843551 | RPS6KA3 | c.1603-5A>G (n.1603-5A>G) c.1516-5A>G (n.1516-5A>G) c.1519-5A>G (n.1519-5A>G) c.1221-5A>G (n.1221-5A>G) c.*824-5A>G (n.*824-5A>G) n.369-104A>G c.1600-5A>G (n.1600-5A>G) c.1513-5A>G (n.1513-5A>G) c.1621-5A>G (n.1621-5A>G) c.1618-5A>G (n.1618-5A>G) c.1537-5A>G (n.1537-5A>G) c.1534-5A>G (n.1534-5A>G) | ClinVar dbSNP |
X | g.20165065T>G | CA2693277052 | RPS6KA3 | c.1603-5A>C (n.1603-5A>C) c.1516-5A>C (n.1516-5A>C) c.1519-5A>C (n.1519-5A>C) c.1221-5A>C (n.1221-5A>C) c.*824-5A>C (n.*824-5A>C) n.369-104A>C c.1600-5A>C (n.1600-5A>C) c.1513-5A>C (n.1513-5A>C) c.1621-5A>C (n.1621-5A>C) c.1618-5A>C (n.1618-5A>C) c.1537-5A>C (n.1537-5A>C) c.1534-5A>C (n.1534-5A>C) | gnomAD v4 |
X | g.20165065T= | CA2418505979 | RPS6KA3 | c.1603-5A= (n.1603-5A=) c.1516-5A= (n.1516-5A=) c.1519-5A= (n.1519-5A=) c.1221-5A= (n.1221-5A=) c.*824-5A= (n.*824-5A=) n.369-104A= c.1600-5A= (n.1600-5A=) c.1513-5A= (n.1513-5A=) c.1621-5A= (n.1621-5A=) c.1618-5A= (n.1618-5A=) c.1537-5A= (n.1537-5A=) c.1534-5A= (n.1534-5A=) | |
X | g.20165069A>G | CA2693277053 | RPS6KA3 | c.1603-9T>C (n.1603-9T>C) c.1516-9T>C (n.1516-9T>C) c.1519-9T>C (n.1519-9T>C) c.1221-9T>C (n.1221-9T>C) c.*824-9T>C (n.*824-9T>C) n.369-108T>C c.1600-9T>C (n.1600-9T>C) c.1513-9T>C (n.1513-9T>C) c.1621-9T>C (n.1621-9T>C) c.1618-9T>C (n.1618-9T>C) c.1537-9T>C (n.1537-9T>C) c.1534-9T>C (n.1534-9T>C) | gnomAD v4 |
X | g.20165070A>G | CA2693277054 | RPS6KA3 | c.1603-10T>C (n.1603-10T>C) c.1516-10T>C (n.1516-10T>C) c.1519-10T>C (n.1519-10T>C) c.1221-10T>C (n.1221-10T>C) c.*824-10T>C (n.*824-10T>C) n.369-109T>C c.1600-10T>C (n.1600-10T>C) c.1513-10T>C (n.1513-10T>C) c.1621-10T>C (n.1621-10T>C) c.1618-10T>C (n.1618-10T>C) c.1537-10T>C (n.1537-10T>C) c.1534-10T>C (n.1534-10T>C) | gnomAD v4 |
X | g.20165073C>A | CA2693277055 | RPS6KA3 | c.1603-13G>T (n.1603-13G>T) c.1516-13G>T (n.1516-13G>T) c.1519-13G>T (n.1519-13G>T) c.1221-13G>T (n.1221-13G>T) c.*824-13G>T (n.*824-13G>T) n.369-112G>T c.1600-13G>T (n.1600-13G>T) c.1513-13G>T (n.1513-13G>T) c.1621-13G>T (n.1621-13G>T) c.1618-13G>T (n.1618-13G>T) c.1537-13G>T (n.1537-13G>T) c.1534-13G>T (n.1534-13G>T) | gnomAD v4 |
X | g.20165073C>T | CA2693277056 | RPS6KA3 | c.1603-13G>A (n.1603-13G>A) c.1516-13G>A (n.1516-13G>A) c.1519-13G>A (n.1519-13G>A) c.1221-13G>A (n.1221-13G>A) c.*824-13G>A (n.*824-13G>A) n.369-112G>A c.1600-13G>A (n.1600-13G>A) c.1513-13G>A (n.1513-13G>A) c.1621-13G>A (n.1621-13G>A) c.1618-13G>A (n.1618-13G>A) c.1537-13G>A (n.1537-13G>A) c.1534-13G>A (n.1534-13G>A) | gnomAD v4 |
X | g.20165075A>G | CA2693277057 | RPS6KA3 | c.1603-15T>C (n.1603-15T>C) c.1516-15T>C (n.1516-15T>C) c.1519-15T>C (n.1519-15T>C) c.1221-15T>C (n.1221-15T>C) c.*824-15T>C (n.*824-15T>C) n.369-114T>C c.1600-15T>C (n.1600-15T>C) c.1513-15T>C (n.1513-15T>C) c.1621-15T>C (n.1621-15T>C) c.1618-15T>C (n.1618-15T>C) c.1537-15T>C (n.1537-15T>C) c.1534-15T>C (n.1534-15T>C) | gnomAD v4 |
X | g.20165077T>C | CA2693277058 | RPS6KA3 | c.1603-17A>G (n.1603-17A>G) c.1516-17A>G (n.1516-17A>G) c.1519-17A>G (n.1519-17A>G) c.1221-17A>G (n.1221-17A>G) c.*824-17A>G (n.*824-17A>G) n.369-116A>G c.1600-17A>G (n.1600-17A>G) c.1513-17A>G (n.1513-17A>G) c.1621-17A>G (n.1621-17A>G) c.1618-17A>G (n.1618-17A>G) c.1537-17A>G (n.1537-17A>G) c.1534-17A>G (n.1534-17A>G) | gnomAD v4 |
X | g.20165078T>A | CA2693277059 | RPS6KA3 | c.1603-18A>T (n.1603-18A>T) c.1516-18A>T (n.1516-18A>T) c.1519-18A>T (n.1519-18A>T) c.1221-18A>T (n.1221-18A>T) c.*824-18A>T (n.*824-18A>T) n.369-117A>T c.1600-18A>T (n.1600-18A>T) c.1513-18A>T (n.1513-18A>T) c.1621-18A>T (n.1621-18A>T) c.1618-18A>T (n.1618-18A>T) c.1537-18A>T (n.1537-18A>T) c.1534-18A>T (n.1534-18A>T) | gnomAD v4 |
X | g.20165078T>G | CA2554164536 | RPS6KA3 | c.1603-18A>C (n.1603-18A>C) c.1516-18A>C (n.1516-18A>C) c.1519-18A>C (n.1519-18A>C) c.1221-18A>C (n.1221-18A>C) c.*824-18A>C (n.*824-18A>C) n.369-117A>C c.1600-18A>C (n.1600-18A>C) c.1513-18A>C (n.1513-18A>C) c.1621-18A>C (n.1621-18A>C) c.1618-18A>C (n.1618-18A>C) c.1537-18A>C (n.1537-18A>C) c.1534-18A>C (n.1534-18A>C) | |
X | g.20165079A>C | CA2580100452 | RPS6KA3 | c.1603-19T>G (n.1603-19T>G) c.1516-19T>G (n.1516-19T>G) c.1519-19T>G (n.1519-19T>G) c.1221-19T>G (n.1221-19T>G) c.*824-19T>G (n.*824-19T>G) n.369-118T>G c.1600-19T>G (n.1600-19T>G) c.1513-19T>G (n.1513-19T>G) c.1621-19T>G (n.1621-19T>G) c.1618-19T>G (n.1618-19T>G) c.1537-19T>G (n.1537-19T>G) c.1534-19T>G (n.1534-19T>G) | ClinVar |