Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.20164908_20164915dup | CA2695231692 | RPS6KA3 | c.1748_1755dup (p.Ala586IlefsTer8) c.1661_1668dup (p.Ala557IlefsTer8) c.1664_1671dup (p.Ala558IlefsTer8) c.1366_1373dup (n.1366_1373dup) c.*969_*976dup (n.*969_*976dup) n.415_422dup c.1745_1752dup (p.Ala585IlefsTer8) c.1658_1665dup (p.Ala556IlefsTer8) c.1766_1773dup (p.Ala592IlefsTer8) c.1763_1770dup (p.Ala591IlefsTer8) c.1682_1689dup (p.Ala564IlefsTer8) c.1679_1686dup (p.Ala563IlefsTer8) | |
X | g.20164909A>C | CA412514010 | RPS6KA3 | c.1754T>G (p.Val585Gly) c.1667T>G (p.Val556Gly) c.1670T>G (p.Val557Gly) c.1372T>G (n.1372T>G) c.*975T>G (n.*975T>G) n.421T>G c.1751T>G (p.Val584Gly) c.1664T>G (p.Val555Gly) c.1772T>G (p.Val591Gly) c.1769T>G (p.Val590Gly) c.1688T>G (p.Val563Gly) c.1685T>G (p.Val562Gly) | |
X | g.20164909A>G | CA412514011 | RPS6KA3 | c.1754T>C (p.Val585Ala) c.1667T>C (p.Val556Ala) c.1670T>C (p.Val557Ala) c.1372T>C (n.1372T>C) c.*975T>C (n.*975T>C) n.421T>C c.1751T>C (p.Val584Ala) c.1664T>C (p.Val555Ala) c.1772T>C (p.Val591Ala) c.1769T>C (p.Val590Ala) c.1688T>C (p.Val563Ala) c.1685T>C (p.Val562Ala) | |
X | g.20164909A>T | CA412514012 | RPS6KA3 | c.1754T>A (p.Val585Asp) c.1667T>A (p.Val556Asp) c.1670T>A (p.Val557Asp) c.1372T>A (n.1372T>A) c.*975T>A (n.*975T>A) n.421T>A c.1751T>A (p.Val584Asp) c.1664T>A (p.Val555Asp) c.1772T>A (p.Val591Asp) c.1769T>A (p.Val590Asp) c.1688T>A (p.Val563Asp) c.1685T>A (p.Val562Asp) | |
X | g.20164910del | CA2579569133 | RPS6KA3 | c.1753del (p.Val585LeufsTer6) c.1666del (p.Val556LeufsTer6) c.1669del (p.Val557LeufsTer6) c.1371del (n.1371del) c.*974del (n.*974del) n.420del c.1750del (p.Val584LeufsTer6) c.1663del (p.Val555LeufsTer6) c.1771del (p.Val591LeufsTer6) c.1768del (p.Val590LeufsTer6) c.1687del (p.Val563LeufsTer6) c.1684del (p.Val562LeufsTer6) | |
X | g.20164910C>A | CA412514013 | RPS6KA3 | c.1753G>T (p.Val585Phe) c.1666G>T (p.Val556Phe) c.1669G>T (p.Val557Phe) c.1371G>T (n.1371G>T) c.*974G>T (n.*974G>T) n.420G>T c.1750G>T (p.Val584Phe) c.1663G>T (p.Val555Phe) c.1771G>T (p.Val591Phe) c.1768G>T (p.Val590Phe) c.1687G>T (p.Val563Phe) c.1684G>T (p.Val562Phe) | |
X | g.20164910C>G | CA412514014 | RPS6KA3 | c.1753G>C (p.Val585Leu) c.1666G>C (p.Val556Leu) c.1669G>C (p.Val557Leu) c.1371G>C (n.1371G>C) c.*974G>C (n.*974G>C) n.420G>C c.1750G>C (p.Val584Leu) c.1663G>C (p.Val555Leu) c.1771G>C (p.Val591Leu) c.1768G>C (p.Val590Leu) c.1687G>C (p.Val563Leu) c.1684G>C (p.Val562Leu) | |
X | g.20164910C>T | CA412514015 | RPS6KA3 | c.1753G>A (p.Val585Ile) c.1666G>A (p.Val556Ile) c.1669G>A (p.Val557Ile) c.1371G>A (n.1371G>A) c.*974G>A (n.*974G>A) n.420G>A c.1750G>A (p.Val584Ile) c.1663G>A (p.Val555Ile) c.1771G>A (p.Val591Ile) c.1768G>A (p.Val590Ile) c.1687G>A (p.Val563Ile) c.1684G>A (p.Val562Ile) | |
X | g.20164911A>C | CA412514016 | RPS6KA3 | c.1752T>G (p.Phe584Leu) c.1665T>G (p.Phe555Leu) c.1668T>G (p.Phe556Leu) c.1370T>G (n.1370T>G) c.*973T>G (n.*973T>G) n.419T>G c.1749T>G (p.Phe583Leu) c.1662T>G (p.Phe554Leu) c.1770T>G (p.Phe590Leu) c.1767T>G (p.Phe589Leu) c.1686T>G (p.Phe562Leu) c.1683T>G (p.Phe561Leu) | |
X | g.20164911A>G | CA515613694 | RPS6KA3 | c.1752T>C (p.Phe584=) c.1665T>C (p.Phe555=) c.1668T>C (p.Phe556=) c.1370T>C (n.1370T>C) c.*973T>C (n.*973T>C) n.419T>C c.1749T>C (p.Phe583=) c.1662T>C (p.Phe554=) c.1770T>C (p.Phe590=) c.1767T>C (p.Phe589=) c.1686T>C (p.Phe562=) c.1683T>C (p.Phe561=) | |
X | g.20164911A>T | CA412514017 | RPS6KA3 | c.1752T>A (p.Phe584Leu) c.1665T>A (p.Phe555Leu) c.1668T>A (p.Phe556Leu) c.1370T>A (n.1370T>A) c.*973T>A (n.*973T>A) n.419T>A c.1749T>A (p.Phe583Leu) c.1662T>A (p.Phe554Leu) c.1770T>A (p.Phe590Leu) c.1767T>A (p.Phe589Leu) c.1686T>A (p.Phe562Leu) c.1683T>A (p.Phe561Leu) | |
X | g.20164912A>C | CA412514019 | RPS6KA3 | c.1751T>G (p.Phe584Cys) c.1664T>G (p.Phe555Cys) c.1667T>G (p.Phe556Cys) c.1369T>G (n.1369T>G) c.*972T>G (n.*972T>G) n.418T>G c.1748T>G (p.Phe583Cys) c.1661T>G (p.Phe554Cys) c.1769T>G (p.Phe590Cys) c.1766T>G (p.Phe589Cys) c.1685T>G (p.Phe562Cys) c.1682T>G (p.Phe561Cys) | |
X | g.20164912A>G | CA412514020 | RPS6KA3 | c.1751T>C (p.Phe584Ser) c.1664T>C (p.Phe555Ser) c.1667T>C (p.Phe556Ser) c.1369T>C (n.1369T>C) c.*972T>C (n.*972T>C) n.418T>C c.1748T>C (p.Phe583Ser) c.1661T>C (p.Phe554Ser) c.1769T>C (p.Phe590Ser) c.1766T>C (p.Phe589Ser) c.1685T>C (p.Phe562Ser) c.1682T>C (p.Phe561Ser) | |
X | g.20164912A>T | CA412514018 | RPS6KA3 | c.1751T>A (p.Phe584Tyr) c.1664T>A (p.Phe555Tyr) c.1667T>A (p.Phe556Tyr) c.1369T>A (n.1369T>A) c.*972T>A (n.*972T>A) n.418T>A c.1748T>A (p.Phe583Tyr) c.1661T>A (p.Phe554Tyr) c.1769T>A (p.Phe590Tyr) c.1766T>A (p.Phe589Tyr) c.1685T>A (p.Phe562Tyr) c.1682T>A (p.Phe561Tyr) | |
X | g.20164913A>C | CA412514021 | RPS6KA3 | c.1750T>G (p.Phe584Val) c.1663T>G (p.Phe555Val) c.1666T>G (p.Phe556Val) c.1368T>G (n.1368T>G) c.*971T>G (n.*971T>G) n.417T>G c.1747T>G (p.Phe583Val) c.1660T>G (p.Phe554Val) c.1768T>G (p.Phe590Val) c.1765T>G (p.Phe589Val) c.1684T>G (p.Phe562Val) c.1681T>G (p.Phe561Val) | COSMIC |
X | g.20164913A>G | CA412514022 | RPS6KA3 | c.1750T>C (p.Phe584Leu) c.1663T>C (p.Phe555Leu) c.1666T>C (p.Phe556Leu) c.1368T>C (n.1368T>C) c.*971T>C (n.*971T>C) n.417T>C c.1747T>C (p.Phe583Leu) c.1660T>C (p.Phe554Leu) c.1768T>C (p.Phe590Leu) c.1765T>C (p.Phe589Leu) c.1684T>C (p.Phe562Leu) c.1681T>C (p.Phe561Leu) | |
X | g.20164913A>T | CA412514023 | RPS6KA3 | c.1750T>A (p.Phe584Ile) c.1663T>A (p.Phe555Ile) c.1666T>A (p.Phe556Ile) c.1368T>A (n.1368T>A) c.*971T>A (n.*971T>A) n.417T>A c.1747T>A (p.Phe583Ile) c.1660T>A (p.Phe554Ile) c.1768T>A (p.Phe590Ile) c.1765T>A (p.Phe589Ile) c.1684T>A (p.Phe562Ile) c.1681T>A (p.Phe561Ile) | |
X | g.20164914A>C | CA412514024 | RPS6KA3 | c.1749T>G (p.Asn583Lys) c.1662T>G (p.Asn554Lys) c.1665T>G (p.Asn555Lys) c.1367T>G (n.1367T>G) c.*970T>G (n.*970T>G) n.416T>G c.1746T>G (p.Asn582Lys) c.1659T>G (p.Asn553Lys) c.1767T>G (p.Asn589Lys) c.1764T>G (p.Asn588Lys) c.1683T>G (p.Asn561Lys) c.1680T>G (p.Asn560Lys) | |
X | g.20164914A>G | CA515613696 | RPS6KA3 | c.1749T>C (p.Asn583=) c.1662T>C (p.Asn554=) c.1665T>C (p.Asn555=) c.1367T>C (n.1367T>C) c.*970T>C (n.*970T>C) n.416T>C c.1746T>C (p.Asn582=) c.1659T>C (p.Asn553=) c.1767T>C (p.Asn589=) c.1764T>C (p.Asn588=) c.1683T>C (p.Asn561=) c.1680T>C (p.Asn560=) | |
X | g.20164914A>T | CA412514025 | RPS6KA3 | c.1749T>A (p.Asn583Lys) c.1662T>A (p.Asn554Lys) c.1665T>A (p.Asn555Lys) c.1367T>A (n.1367T>A) c.*970T>A (n.*970T>A) n.416T>A c.1746T>A (p.Asn582Lys) c.1659T>A (p.Asn553Lys) c.1767T>A (p.Asn589Lys) c.1764T>A (p.Asn588Lys) c.1683T>A (p.Asn561Lys) c.1680T>A (p.Asn560Lys) | |
X | g.20164915T>A | CA412514028 | RPS6KA3 | c.1748A>T (p.Asn583Ile) c.1661A>T (p.Asn554Ile) c.1664A>T (p.Asn555Ile) c.1366A>T (n.1366A>T) c.*969A>T (n.*969A>T) n.415A>T c.1745A>T (p.Asn582Ile) c.1658A>T (p.Asn553Ile) c.1766A>T (p.Asn589Ile) c.1763A>T (p.Asn588Ile) c.1682A>T (p.Asn561Ile) c.1679A>T (p.Asn560Ile) | |
X | g.20164915T>C | CA412514026 | RPS6KA3 | c.1748A>G (p.Asn583Ser) c.1661A>G (p.Asn554Ser) c.1664A>G (p.Asn555Ser) c.1366A>G (n.1366A>G) c.*969A>G (n.*969A>G) n.415A>G c.1745A>G (p.Asn582Ser) c.1658A>G (p.Asn553Ser) c.1766A>G (p.Asn589Ser) c.1763A>G (p.Asn588Ser) c.1682A>G (p.Asn561Ser) c.1679A>G (p.Asn560Ser) | gnomAD v4 |
X | g.20164915T>G | CA412514027 | RPS6KA3 | c.1748A>C (p.Asn583Thr) c.1661A>C (p.Asn554Thr) c.1664A>C (p.Asn555Thr) c.1366A>C (n.1366A>C) c.*969A>C (n.*969A>C) n.415A>C c.1745A>C (p.Asn582Thr) c.1658A>C (p.Asn553Thr) c.1766A>C (p.Asn589Thr) c.1763A>C (p.Asn588Thr) c.1682A>C (p.Asn561Thr) c.1679A>C (p.Asn560Thr) | |
X | g.20164916T>A | CA412514029 | RPS6KA3 | c.1747A>T (p.Asn583Tyr) c.1660A>T (p.Asn554Tyr) c.1663A>T (p.Asn555Tyr) c.1365A>T (n.1365A>T) c.*968A>T (n.*968A>T) n.414A>T c.1744A>T (p.Asn582Tyr) c.1657A>T (p.Asn553Tyr) c.1765A>T (p.Asn589Tyr) c.1762A>T (p.Asn588Tyr) c.1681A>T (p.Asn561Tyr) c.1678A>T (p.Asn560Tyr) | |
X | g.20164916T>C | CA412514030 | RPS6KA3 | c.1747A>G (p.Asn583Asp) c.1660A>G (p.Asn554Asp) c.1663A>G (p.Asn555Asp) c.1365A>G (n.1365A>G) c.*968A>G (n.*968A>G) n.414A>G c.1744A>G (p.Asn582Asp) c.1657A>G (p.Asn553Asp) c.1765A>G (p.Asn589Asp) c.1762A>G (p.Asn588Asp) c.1681A>G (p.Asn561Asp) c.1678A>G (p.Asn560Asp) | |
X | g.20164916T>G | CA412514031 | RPS6KA3 | c.1747A>C (p.Asn583His) c.1660A>C (p.Asn554His) c.1663A>C (p.Asn555His) c.1365A>C (n.1365A>C) c.*968A>C (n.*968A>C) n.414A>C c.1744A>C (p.Asn582His) c.1657A>C (p.Asn553His) c.1765A>C (p.Asn589His) c.1762A>C (p.Asn588His) c.1681A>C (p.Asn561His) c.1678A>C (p.Asn560His) | |
X | g.20164917T>A | CA515613699 | RPS6KA3 | c.1746A>T (p.Ala582=) c.1659A>T (p.Ala553=) c.1662A>T (p.Ala554=) c.1364A>T (n.1364A>T) c.*967A>T (n.*967A>T) n.413A>T c.1743A>T (p.Ala581=) c.1656A>T (p.Ala552=) c.1764A>T (p.Ala588=) c.1761A>T (p.Ala587=) c.1680A>T (p.Ala560=) c.1677A>T (p.Ala559=) | |
X | g.20164917T>C | CA515613700 | RPS6KA3 | c.1746A>G (p.Ala582=) c.1659A>G (p.Ala553=) c.1662A>G (p.Ala554=) c.1364A>G (n.1364A>G) c.*967A>G (n.*967A>G) n.413A>G c.1743A>G (p.Ala581=) c.1656A>G (p.Ala552=) c.1764A>G (p.Ala588=) c.1761A>G (p.Ala587=) c.1680A>G (p.Ala560=) c.1677A>G (p.Ala559=) | |
X | g.20164917T>G | CA515613701 | RPS6KA3 | c.1746A>C (p.Ala582=) c.1659A>C (p.Ala553=) c.1662A>C (p.Ala554=) c.1364A>C (n.1364A>C) c.*967A>C (n.*967A>C) n.413A>C c.1743A>C (p.Ala581=) c.1656A>C (p.Ala552=) c.1764A>C (p.Ala588=) c.1761A>C (p.Ala587=) c.1680A>C (p.Ala560=) c.1677A>C (p.Ala559=) | |
X | g.20164918G>A | CA412514032 | RPS6KA3 | c.1745C>T (p.Ala582Val) c.1658C>T (p.Ala553Val) c.1661C>T (p.Ala554Val) c.1363C>T (n.1363C>T) c.*966C>T (n.*966C>T) n.412C>T c.1742C>T (p.Ala581Val) c.1655C>T (p.Ala552Val) c.1763C>T (p.Ala588Val) c.1760C>T (p.Ala587Val) c.1679C>T (p.Ala560Val) c.1676C>T (p.Ala559Val) | gnomAD v4 |
X | g.20164918G>C | CA412514033 | RPS6KA3 | c.1745C>G (p.Ala582Gly) c.1658C>G (p.Ala553Gly) c.1661C>G (p.Ala554Gly) c.1363C>G (n.1363C>G) c.*966C>G (n.*966C>G) n.412C>G c.1742C>G (p.Ala581Gly) c.1655C>G (p.Ala552Gly) c.1763C>G (p.Ala588Gly) c.1760C>G (p.Ala587Gly) c.1679C>G (p.Ala560Gly) c.1676C>G (p.Ala559Gly) | |
X | g.20164918G>T | CA412514034 | RPS6KA3 | c.1745C>A (p.Ala582Glu) c.1658C>A (p.Ala553Glu) c.1661C>A (p.Ala554Glu) c.1363C>A (n.1363C>A) c.*966C>A (n.*966C>A) n.412C>A c.1742C>A (p.Ala581Glu) c.1655C>A (p.Ala552Glu) c.1763C>A (p.Ala588Glu) c.1760C>A (p.Ala587Glu) c.1679C>A (p.Ala560Glu) c.1676C>A (p.Ala559Glu) | |
X | g.20164919C>A | CA412514036 | RPS6KA3 | c.1744G>T (p.Ala582Ser) c.1657G>T (p.Ala553Ser) c.1660G>T (p.Ala554Ser) c.1362G>T (n.1362G>T) c.*965G>T (n.*965G>T) n.411G>T c.1741G>T (p.Ala581Ser) c.1654G>T (p.Ala552Ser) c.1762G>T (p.Ala588Ser) c.1759G>T (p.Ala587Ser) c.1678G>T (p.Ala560Ser) c.1675G>T (p.Ala559Ser) | |
X | g.20164919C>G | CA412514037 | RPS6KA3 | c.1744G>C (p.Ala582Pro) c.1657G>C (p.Ala553Pro) c.1660G>C (p.Ala554Pro) c.1362G>C (n.1362G>C) c.*965G>C (n.*965G>C) n.411G>C c.1741G>C (p.Ala581Pro) c.1654G>C (p.Ala552Pro) c.1762G>C (p.Ala588Pro) c.1759G>C (p.Ala587Pro) c.1678G>C (p.Ala560Pro) c.1675G>C (p.Ala559Pro) | |
X | g.20164919C>T | CA412514035 | RPS6KA3 | c.1744G>A (p.Ala582Thr) c.1657G>A (p.Ala553Thr) c.1660G>A (p.Ala554Thr) c.1362G>A (n.1362G>A) c.*965G>A (n.*965G>A) n.411G>A c.1741G>A (p.Ala581Thr) c.1654G>A (p.Ala552Thr) c.1762G>A (p.Ala588Thr) c.1759G>A (p.Ala587Thr) c.1678G>A (p.Ala560Thr) c.1675G>A (p.Ala559Thr) | |
X | g.20164920A= | CA2418505960 | RPS6KA3 | c.1743T= (p.Thr581=) c.1656T= (p.Thr552=) c.1659T= (p.Thr553=) c.1361T= (n.1361T=) c.*964T= (n.*964T=) n.410T= c.1740T= (p.Thr580=) c.1653T= (p.Thr551=) c.1761T= (p.Thr587=) c.1758T= (p.Thr586=) c.1677T= (p.Thr559=) c.1674T= (p.Thr558=) | |
X | g.20164920A>C | CA515613703 | RPS6KA3 | c.1743T>G (p.Thr581=) c.1656T>G (p.Thr552=) c.1659T>G (p.Thr553=) c.1361T>G (n.1361T>G) c.*964T>G (n.*964T>G) n.410T>G c.1740T>G (p.Thr580=) c.1653T>G (p.Thr551=) c.1761T>G (p.Thr587=) c.1758T>G (p.Thr586=) c.1677T>G (p.Thr559=) c.1674T>G (p.Thr558=) | |
X | g.20164920A>G | CA515613704 | RPS6KA3 | c.1743T>C (p.Thr581=) c.1656T>C (p.Thr552=) c.1659T>C (p.Thr553=) c.1361T>C (n.1361T>C) c.*964T>C (n.*964T>C) n.410T>C c.1740T>C (p.Thr580=) c.1653T>C (p.Thr551=) c.1761T>C (p.Thr587=) c.1758T>C (p.Thr586=) c.1677T>C (p.Thr559=) c.1674T>C (p.Thr558=) | |
X | g.20164920A>T | CA515613705 | RPS6KA3 | c.1743T>A (p.Thr581=) c.1656T>A (p.Thr552=) c.1659T>A (p.Thr553=) c.1361T>A (n.1361T>A) c.*964T>A (n.*964T>A) n.410T>A c.1740T>A (p.Thr580=) c.1653T>A (p.Thr551=) c.1761T>A (p.Thr587=) c.1758T>A (p.Thr586=) c.1677T>A (p.Thr559=) c.1674T>A (p.Thr558=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.20164921G>A | CA412514040 | RPS6KA3 | c.1742C>T (p.Thr581Ile) c.1655C>T (p.Thr552Ile) c.1658C>T (p.Thr553Ile) c.1360C>T (n.1360C>T) c.*963C>T (n.*963C>T) n.409C>T c.1739C>T (p.Thr580Ile) c.1652C>T (p.Thr551Ile) c.1760C>T (p.Thr587Ile) c.1757C>T (p.Thr586Ile) c.1676C>T (p.Thr559Ile) c.1673C>T (p.Thr558Ile) | |
X | g.20164921G>C | CA412514038 | RPS6KA3 | c.1742C>G (p.Thr581Ser) c.1655C>G (p.Thr552Ser) c.1658C>G (p.Thr553Ser) c.1360C>G (n.1360C>G) c.*963C>G (n.*963C>G) n.409C>G c.1739C>G (p.Thr580Ser) c.1652C>G (p.Thr551Ser) c.1760C>G (p.Thr587Ser) c.1757C>G (p.Thr586Ser) c.1676C>G (p.Thr559Ser) c.1673C>G (p.Thr558Ser) | |
X | g.20164921G>T | CA412514039 | RPS6KA3 | c.1742C>A (p.Thr581Asn) c.1655C>A (p.Thr552Asn) c.1658C>A (p.Thr553Asn) c.1360C>A (n.1360C>A) c.*963C>A (n.*963C>A) n.409C>A c.1739C>A (p.Thr580Asn) c.1652C>A (p.Thr551Asn) c.1760C>A (p.Thr587Asn) c.1757C>A (p.Thr586Asn) c.1676C>A (p.Thr559Asn) c.1673C>A (p.Thr558Asn) | |
X | g.20164922T>A | CA412514041 | RPS6KA3 | c.1741A>T (p.Thr581Ser) c.1654A>T (p.Thr552Ser) c.1657A>T (p.Thr553Ser) c.1359A>T (n.1359A>T) c.*962A>T (n.*962A>T) n.408A>T c.1738A>T (p.Thr580Ser) c.1651A>T (p.Thr551Ser) c.1759A>T (p.Thr587Ser) c.1756A>T (p.Thr586Ser) c.1675A>T (p.Thr559Ser) c.1672A>T (p.Thr558Ser) | |
X | g.20164922T>C | CA16621294 | RPS6KA3 | c.1741A>G (p.Thr581Ala) c.1654A>G (p.Thr552Ala) c.1657A>G (p.Thr553Ala) c.1359A>G (n.1359A>G) c.*962A>G (n.*962A>G) n.408A>G c.1738A>G (p.Thr580Ala) c.1651A>G (p.Thr551Ala) c.1759A>G (p.Thr587Ala) c.1756A>G (p.Thr586Ala) c.1675A>G (p.Thr559Ala) c.1672A>G (p.Thr558Ala) | ClinVar dbSNP |
X | g.20164922T>G | CA412514042 | RPS6KA3 | c.1741A>C (p.Thr581Pro) c.1654A>C (p.Thr552Pro) c.1657A>C (p.Thr553Pro) c.1359A>C (n.1359A>C) c.*962A>C (n.*962A>C) n.408A>C c.1738A>C (p.Thr580Pro) c.1651A>C (p.Thr551Pro) c.1759A>C (p.Thr587Pro) c.1756A>C (p.Thr586Pro) c.1675A>C (p.Thr559Pro) c.1672A>C (p.Thr558Pro) | |
X | g.20164922T= | CA2418505961 | RPS6KA3 | c.1741A= (p.Thr581=) c.1654A= (p.Thr552=) c.1657A= (p.Thr553=) c.1359A= (n.1359A=) c.*962A= (n.*962A=) n.408A= c.1738A= (p.Thr580=) c.1651A= (p.Thr551=) c.1759A= (p.Thr587=) c.1756A= (p.Thr586=) c.1675A= (p.Thr559=) c.1672A= (p.Thr558=) | |
X | g.20164923del | CA2573158440 | RPS6KA3 | c.1740del (p.Tyr580Ter) c.1653del (p.Tyr551Ter) c.1656del (p.Tyr552Ter) c.1358del (n.1358del) c.*961del (n.*961del) n.407del c.1737del (p.Tyr579Ter) c.1650del (p.Tyr550Ter) c.1758del (p.Tyr586Ter) c.1755del (p.Tyr585Ter) c.1674del (p.Tyr558Ter) c.1671del (p.Tyr557Ter) | ClinVar dbSNP |
X | g.20164923G>A | CA515613706 | RPS6KA3 | c.1740C>T (p.Tyr580=) c.1653C>T (p.Tyr551=) c.1656C>T (p.Tyr552=) c.1358C>T (n.1358C>T) c.*961C>T (n.*961C>T) n.407C>T c.1737C>T (p.Tyr579=) c.1650C>T (p.Tyr550=) c.1758C>T (p.Tyr586=) c.1755C>T (p.Tyr585=) c.1674C>T (p.Tyr558=) c.1671C>T (p.Tyr557=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.20164923G>C | CA412514043 | RPS6KA3 | c.1740C>G (p.Tyr580Ter) c.1653C>G (p.Tyr551Ter) c.1656C>G (p.Tyr552Ter) c.1358C>G (n.1358C>G) c.*961C>G (n.*961C>G) n.407C>G c.1737C>G (p.Tyr579Ter) c.1650C>G (p.Tyr550Ter) c.1758C>G (p.Tyr586Ter) c.1755C>G (p.Tyr585Ter) c.1674C>G (p.Tyr558Ter) c.1671C>G (p.Tyr557Ter) | |
X | g.20164923G= | CA2418505962 | RPS6KA3 | c.1740C= (p.Tyr580=) c.1653C= (p.Tyr551=) c.1656C= (p.Tyr552=) c.1358C= (n.1358C=) c.*961C= (n.*961C=) n.407C= c.1737C= (p.Tyr579=) c.1650C= (p.Tyr550=) c.1758C= (p.Tyr586=) c.1755C= (p.Tyr585=) c.1674C= (p.Tyr558=) c.1671C= (p.Tyr557=) | |
X | g.20164923G>T | CA412514044 | RPS6KA3 | c.1740C>A (p.Tyr580Ter) c.1653C>A (p.Tyr551Ter) c.1656C>A (p.Tyr552Ter) c.1358C>A (n.1358C>A) c.*961C>A (n.*961C>A) n.407C>A c.1737C>A (p.Tyr579Ter) c.1650C>A (p.Tyr550Ter) c.1758C>A (p.Tyr586Ter) c.1755C>A (p.Tyr585Ter) c.1674C>A (p.Tyr558Ter) c.1671C>A (p.Tyr557Ter) | |
X | g.20164924T>A | CA412514045 | RPS6KA3 | c.1739A>T (p.Tyr580Phe) c.1652A>T (p.Tyr551Phe) c.1655A>T (p.Tyr552Phe) c.1357A>T (n.1357A>T) c.*960A>T (n.*960A>T) n.406A>T c.1736A>T (p.Tyr579Phe) c.1649A>T (p.Tyr550Phe) c.1757A>T (p.Tyr586Phe) c.1754A>T (p.Tyr585Phe) c.1673A>T (p.Tyr558Phe) c.1670A>T (p.Tyr557Phe) | |
X | g.20164924T>C | CA412514046 | RPS6KA3 | c.1739A>G (p.Tyr580Cys) c.1652A>G (p.Tyr551Cys) c.1655A>G (p.Tyr552Cys) c.1357A>G (n.1357A>G) c.*960A>G (n.*960A>G) n.406A>G c.1736A>G (p.Tyr579Cys) c.1649A>G (p.Tyr550Cys) c.1757A>G (p.Tyr586Cys) c.1754A>G (p.Tyr585Cys) c.1673A>G (p.Tyr558Cys) c.1670A>G (p.Tyr557Cys) | |
X | g.20164924T>G | CA412514047 | RPS6KA3 | c.1739A>C (p.Tyr580Ser) c.1652A>C (p.Tyr551Ser) c.1655A>C (p.Tyr552Ser) c.1357A>C (n.1357A>C) c.*960A>C (n.*960A>C) n.406A>C c.1736A>C (p.Tyr579Ser) c.1649A>C (p.Tyr550Ser) c.1757A>C (p.Tyr586Ser) c.1754A>C (p.Tyr585Ser) c.1673A>C (p.Tyr558Ser) c.1670A>C (p.Tyr557Ser) | |
X | g.20164925A>C | CA412514048 | RPS6KA3 | c.1738T>G (p.Tyr580Asp) c.1651T>G (p.Tyr551Asp) c.1654T>G (p.Tyr552Asp) c.1356T>G (n.1356T>G) c.*959T>G (n.*959T>G) n.405T>G c.1735T>G (p.Tyr579Asp) c.1648T>G (p.Tyr550Asp) c.1756T>G (p.Tyr586Asp) c.1753T>G (p.Tyr585Asp) c.1672T>G (p.Tyr558Asp) c.1669T>G (p.Tyr557Asp) | |
X | g.20164925A>G | CA412514049 | RPS6KA3 | c.1738T>C (p.Tyr580His) c.1651T>C (p.Tyr551His) c.1654T>C (p.Tyr552His) c.1356T>C (n.1356T>C) c.*959T>C (n.*959T>C) n.405T>C c.1735T>C (p.Tyr579His) c.1648T>C (p.Tyr550His) c.1756T>C (p.Tyr586His) c.1753T>C (p.Tyr585His) c.1672T>C (p.Tyr558His) c.1669T>C (p.Tyr557His) | |
X | g.20164925A>T | CA412514050 | RPS6KA3 | c.1738T>A (p.Tyr580Asn) c.1651T>A (p.Tyr551Asn) c.1654T>A (p.Tyr552Asn) c.1356T>A (n.1356T>A) c.*959T>A (n.*959T>A) n.405T>A c.1735T>A (p.Tyr579Asn) c.1648T>A (p.Tyr550Asn) c.1756T>A (p.Tyr586Asn) c.1753T>A (p.Tyr585Asn) c.1672T>A (p.Tyr558Asn) c.1669T>A (p.Tyr557Asn) | |
X | g.20164926A>C | CA412514051 | RPS6KA3 | c.1737T>G (p.Cys579Trp) c.1650T>G (p.Cys550Trp) c.1653T>G (p.Cys551Trp) c.1355T>G (n.1355T>G) c.*958T>G (n.*958T>G) n.404T>G c.1734T>G (p.Cys578Trp) c.1647T>G (p.Cys549Trp) c.1755T>G (p.Cys585Trp) c.1752T>G (p.Cys584Trp) c.1671T>G (p.Cys557Trp) c.1668T>G (p.Cys556Trp) | |
X | g.20164926A>G | CA515613710 | RPS6KA3 | c.1737T>C (p.Cys579=) c.1650T>C (p.Cys550=) c.1653T>C (p.Cys551=) c.1355T>C (n.1355T>C) c.*958T>C (n.*958T>C) n.404T>C c.1734T>C (p.Cys578=) c.1647T>C (p.Cys549=) c.1755T>C (p.Cys585=) c.1752T>C (p.Cys584=) c.1671T>C (p.Cys557=) c.1668T>C (p.Cys556=) | |
X | g.20164926A>T | CA412514052 | RPS6KA3 | c.1737T>A (p.Cys579Ter) c.1650T>A (p.Cys550Ter) c.1653T>A (p.Cys551Ter) c.1355T>A (n.1355T>A) c.*958T>A (n.*958T>A) n.404T>A c.1734T>A (p.Cys578Ter) c.1647T>A (p.Cys549Ter) c.1755T>A (p.Cys585Ter) c.1752T>A (p.Cys584Ter) c.1671T>A (p.Cys557Ter) c.1668T>A (p.Cys556Ter) | |
X | g.20164927C>A | CA412514053 | RPS6KA3 | c.1736G>T (p.Cys579Phe) c.1649G>T (p.Cys550Phe) c.1652G>T (p.Cys551Phe) c.1354G>T (n.1354G>T) c.*957G>T (n.*957G>T) n.403G>T c.1733G>T (p.Cys578Phe) c.1646G>T (p.Cys549Phe) c.1754G>T (p.Cys585Phe) c.1751G>T (p.Cys584Phe) c.1670G>T (p.Cys557Phe) c.1667G>T (p.Cys556Phe) | |
X | g.20164927C>G | CA412514054 | RPS6KA3 | c.1736G>C (p.Cys579Ser) c.1649G>C (p.Cys550Ser) c.1652G>C (p.Cys551Ser) c.1354G>C (n.1354G>C) c.*957G>C (n.*957G>C) n.403G>C c.1733G>C (p.Cys578Ser) c.1646G>C (p.Cys549Ser) c.1754G>C (p.Cys585Ser) c.1751G>C (p.Cys584Ser) c.1670G>C (p.Cys557Ser) c.1667G>C (p.Cys556Ser) | |
X | g.20164927C>T | CA412514055 | RPS6KA3 | c.1736G>A (p.Cys579Tyr) c.1649G>A (p.Cys550Tyr) c.1652G>A (p.Cys551Tyr) c.1354G>A (n.1354G>A) c.*957G>A (n.*957G>A) n.403G>A c.1733G>A (p.Cys578Tyr) c.1646G>A (p.Cys549Tyr) c.1754G>A (p.Cys585Tyr) c.1751G>A (p.Cys584Tyr) c.1670G>A (p.Cys557Tyr) c.1667G>A (p.Cys556Tyr) | |
X | g.20164928A>C | CA412514056 | RPS6KA3 | c.1735T>G (p.Cys579Gly) c.1648T>G (p.Cys550Gly) c.1651T>G (p.Cys551Gly) c.1353T>G (n.1353T>G) c.*956T>G (n.*956T>G) n.402T>G c.1732T>G (p.Cys578Gly) c.1645T>G (p.Cys549Gly) c.1753T>G (p.Cys585Gly) c.1750T>G (p.Cys584Gly) c.1669T>G (p.Cys557Gly) c.1666T>G (p.Cys556Gly) | |
X | g.20164928A>G | CA412514057 | RPS6KA3 | c.1735T>C (p.Cys579Arg) c.1648T>C (p.Cys550Arg) c.1651T>C (p.Cys551Arg) c.1353T>C (n.1353T>C) c.*956T>C (n.*956T>C) n.402T>C c.1732T>C (p.Cys578Arg) c.1645T>C (p.Cys549Arg) c.1753T>C (p.Cys585Arg) c.1750T>C (p.Cys584Arg) c.1669T>C (p.Cys557Arg) c.1666T>C (p.Cys556Arg) | |
X | g.20164928A>T | CA412514058 | RPS6KA3 | c.1735T>A (p.Cys579Ser) c.1648T>A (p.Cys550Ser) c.1651T>A (p.Cys551Ser) c.1353T>A (n.1353T>A) c.*956T>A (n.*956T>A) n.402T>A c.1732T>A (p.Cys578Ser) c.1645T>A (p.Cys549Ser) c.1753T>A (p.Cys585Ser) c.1750T>A (p.Cys584Ser) c.1669T>A (p.Cys557Ser) c.1666T>A (p.Cys556Ser) | |
X | g.20164929A= | CA2418505963 | RPS6KA3 | c.1734T= (p.Pro578=) c.1647T= (p.Pro549=) c.1650T= (p.Pro550=) c.1352T= (n.1352T=) c.*955T= (n.*955T=) n.401T= c.1731T= (p.Pro577=) c.1644T= (p.Pro548=) c.1752T= (p.Pro584=) c.1749T= (p.Pro583=) c.1668T= (p.Pro556=) c.1665T= (p.Pro555=) | |
X | g.20164929A>C | CA515613711 | RPS6KA3 | c.1734T>G (p.Pro578=) c.1647T>G (p.Pro549=) c.1650T>G (p.Pro550=) c.1352T>G (n.1352T>G) c.*955T>G (n.*955T>G) n.401T>G c.1731T>G (p.Pro577=) c.1644T>G (p.Pro548=) c.1752T>G (p.Pro584=) c.1749T>G (p.Pro583=) c.1668T>G (p.Pro556=) c.1665T>G (p.Pro555=) | |
X | g.20164929A>G | CA515613714 | RPS6KA3 | c.1734T>C (p.Pro578=) c.1647T>C (p.Pro549=) c.1650T>C (p.Pro550=) c.1352T>C (n.1352T>C) c.*955T>C (n.*955T>C) n.401T>C c.1731T>C (p.Pro577=) c.1644T>C (p.Pro548=) c.1752T>C (p.Pro584=) c.1749T>C (p.Pro583=) c.1668T>C (p.Pro556=) c.1665T>C (p.Pro555=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.20164929A>T | CA515613712 | RPS6KA3 | c.1734T>A (p.Pro578=) c.1647T>A (p.Pro549=) c.1650T>A (p.Pro550=) c.1352T>A (n.1352T>A) c.*955T>A (n.*955T>A) n.401T>A c.1731T>A (p.Pro577=) c.1644T>A (p.Pro548=) c.1752T>A (p.Pro584=) c.1749T>A (p.Pro583=) c.1668T>A (p.Pro556=) c.1665T>A (p.Pro555=) | |
X | g.20164930G>A | CA412514059 | RPS6KA3 | c.1733C>T (p.Pro578Leu) c.1646C>T (p.Pro549Leu) c.1649C>T (p.Pro550Leu) c.1351C>T (n.1351C>T) c.*954C>T (n.*954C>T) n.400C>T c.1730C>T (p.Pro577Leu) c.1643C>T (p.Pro548Leu) c.1751C>T (p.Pro584Leu) c.1748C>T (p.Pro583Leu) c.1667C>T (p.Pro556Leu) c.1664C>T (p.Pro555Leu) | |
X | g.20164930G>C | CA412514060 | RPS6KA3 | c.1733C>G (p.Pro578Arg) c.1646C>G (p.Pro549Arg) c.1649C>G (p.Pro550Arg) c.1351C>G (n.1351C>G) c.*954C>G (n.*954C>G) n.400C>G c.1730C>G (p.Pro577Arg) c.1643C>G (p.Pro548Arg) c.1751C>G (p.Pro584Arg) c.1748C>G (p.Pro583Arg) c.1667C>G (p.Pro556Arg) c.1664C>G (p.Pro555Arg) | |
X | g.20164930G>T | CA412514061 | RPS6KA3 | c.1733C>A (p.Pro578His) c.1646C>A (p.Pro549His) c.1649C>A (p.Pro550His) c.1351C>A (n.1351C>A) c.*954C>A (n.*954C>A) n.400C>A c.1730C>A (p.Pro577His) c.1643C>A (p.Pro548His) c.1751C>A (p.Pro584His) c.1748C>A (p.Pro583His) c.1667C>A (p.Pro556His) c.1664C>A (p.Pro555His) | |
X | g.20164931G>A | CA412514062 | RPS6KA3 | c.1732C>T (p.Pro578Ser) c.1645C>T (p.Pro549Ser) c.1648C>T (p.Pro550Ser) c.1350C>T (n.1350C>T) c.*953C>T (n.*953C>T) n.399C>T c.1729C>T (p.Pro577Ser) c.1642C>T (p.Pro548Ser) c.1750C>T (p.Pro584Ser) c.1747C>T (p.Pro583Ser) c.1666C>T (p.Pro556Ser) c.1663C>T (p.Pro555Ser) | |
X | g.20164931G>C | CA412514063 | RPS6KA3 | c.1732C>G (p.Pro578Ala) c.1645C>G (p.Pro549Ala) c.1648C>G (p.Pro550Ala) c.1350C>G (n.1350C>G) c.*953C>G (n.*953C>G) n.399C>G c.1729C>G (p.Pro577Ala) c.1642C>G (p.Pro548Ala) c.1750C>G (p.Pro584Ala) c.1747C>G (p.Pro583Ala) c.1666C>G (p.Pro556Ala) c.1663C>G (p.Pro555Ala) | |
X | g.20164931G>T | CA412514064 | RPS6KA3 | c.1732C>A (p.Pro578Thr) c.1645C>A (p.Pro549Thr) c.1648C>A (p.Pro550Thr) c.1350C>A (n.1350C>A) c.*953C>A (n.*953C>A) n.399C>A c.1729C>A (p.Pro577Thr) c.1642C>A (p.Pro548Thr) c.1750C>A (p.Pro584Thr) c.1747C>A (p.Pro583Thr) c.1666C>A (p.Pro556Thr) c.1663C>A (p.Pro555Thr) | |
X | g.20164932A>C | CA515613715 | RPS6KA3 | c.1731T>G (p.Thr577=) c.1644T>G (p.Thr548=) c.1647T>G (p.Thr549=) c.1349T>G (n.1349T>G) c.*952T>G (n.*952T>G) n.398T>G c.1728T>G (p.Thr576=) c.1641T>G (p.Thr547=) c.1749T>G (p.Thr583=) c.1746T>G (p.Thr582=) c.1665T>G (p.Thr555=) c.1662T>G (p.Thr554=) | |
X | g.20164932A>G | CA515613716 | RPS6KA3 | c.1731T>C (p.Thr577=) c.1644T>C (p.Thr548=) c.1647T>C (p.Thr549=) c.1349T>C (n.1349T>C) c.*952T>C (n.*952T>C) n.398T>C c.1728T>C (p.Thr576=) c.1641T>C (p.Thr547=) c.1749T>C (p.Thr583=) c.1746T>C (p.Thr582=) c.1665T>C (p.Thr555=) c.1662T>C (p.Thr554=) | |
X | g.20164932A>T | CA515613717 | RPS6KA3 | c.1731T>A (p.Thr577=) c.1644T>A (p.Thr548=) c.1647T>A (p.Thr549=) c.1349T>A (n.1349T>A) c.*952T>A (n.*952T>A) n.398T>A c.1728T>A (p.Thr576=) c.1641T>A (p.Thr547=) c.1749T>A (p.Thr583=) c.1746T>A (p.Thr582=) c.1665T>A (p.Thr555=) c.1662T>A (p.Thr554=) | |
X | g.20164933G>A | CA412514066 | RPS6KA3 | c.1730C>T (p.Thr577Ile) c.1643C>T (p.Thr548Ile) c.1646C>T (p.Thr549Ile) c.1348C>T (n.1348C>T) c.*951C>T (n.*951C>T) n.397C>T c.1727C>T (p.Thr576Ile) c.1640C>T (p.Thr547Ile) c.1748C>T (p.Thr583Ile) c.1745C>T (p.Thr582Ile) c.1664C>T (p.Thr555Ile) c.1661C>T (p.Thr554Ile) | |
X | g.20164933G>C | CA412514067 | RPS6KA3 | c.1730C>G (p.Thr577Ser) c.1643C>G (p.Thr548Ser) c.1646C>G (p.Thr549Ser) c.1348C>G (n.1348C>G) c.*951C>G (n.*951C>G) n.397C>G c.1727C>G (p.Thr576Ser) c.1640C>G (p.Thr547Ser) c.1748C>G (p.Thr583Ser) c.1745C>G (p.Thr582Ser) c.1664C>G (p.Thr555Ser) c.1661C>G (p.Thr554Ser) | |
X | g.20164933G>T | CA412514065 | RPS6KA3 | c.1730C>A (p.Thr577Asn) c.1643C>A (p.Thr548Asn) c.1646C>A (p.Thr549Asn) c.1348C>A (n.1348C>A) c.*951C>A (n.*951C>A) n.397C>A c.1727C>A (p.Thr576Asn) c.1640C>A (p.Thr547Asn) c.1748C>A (p.Thr583Asn) c.1745C>A (p.Thr582Asn) c.1664C>A (p.Thr555Asn) c.1661C>A (p.Thr554Asn) | |
X | g.20164934T>A | CA412514068 | RPS6KA3 | c.1729A>T (p.Thr577Ser) c.1642A>T (p.Thr548Ser) c.1645A>T (p.Thr549Ser) c.1347A>T (n.1347A>T) c.*950A>T (n.*950A>T) n.396A>T c.1726A>T (p.Thr576Ser) c.1639A>T (p.Thr547Ser) c.1747A>T (p.Thr583Ser) c.1744A>T (p.Thr582Ser) c.1663A>T (p.Thr555Ser) c.1660A>T (p.Thr554Ser) | |
X | g.20164934T>C | CA412514069 | RPS6KA3 | c.1729A>G (p.Thr577Ala) c.1642A>G (p.Thr548Ala) c.1645A>G (p.Thr549Ala) c.1347A>G (n.1347A>G) c.*950A>G (n.*950A>G) n.396A>G c.1726A>G (p.Thr576Ala) c.1639A>G (p.Thr547Ala) c.1747A>G (p.Thr583Ala) c.1744A>G (p.Thr582Ala) c.1663A>G (p.Thr555Ala) c.1660A>G (p.Thr554Ala) | |
X | g.20164934T>G | CA412514070 | RPS6KA3 | c.1729A>C (p.Thr577Pro) c.1642A>C (p.Thr548Pro) c.1645A>C (p.Thr549Pro) c.1347A>C (n.1347A>C) c.*950A>C (n.*950A>C) n.396A>C c.1726A>C (p.Thr576Pro) c.1639A>C (p.Thr547Pro) c.1747A>C (p.Thr583Pro) c.1744A>C (p.Thr582Pro) c.1663A>C (p.Thr555Pro) c.1660A>C (p.Thr554Pro) | |
X | g.20164935C>A | CA412514071 | RPS6KA3 | c.1728G>T (p.Met576Ile) c.1641G>T (p.Met547Ile) c.1644G>T (p.Met548Ile) c.1346G>T (n.1346G>T) c.*949G>T (n.*949G>T) n.395G>T c.1725G>T (p.Met575Ile) c.1638G>T (p.Met546Ile) c.1746G>T (p.Met582Ile) c.1743G>T (p.Met581Ile) c.1662G>T (p.Met554Ile) c.1659G>T (p.Met553Ile) | |
X | g.20164935C>G | CA412514072 | RPS6KA3 | c.1728G>C (p.Met576Ile) c.1641G>C (p.Met547Ile) c.1644G>C (p.Met548Ile) c.1346G>C (n.1346G>C) c.*949G>C (n.*949G>C) n.395G>C c.1725G>C (p.Met575Ile) c.1638G>C (p.Met546Ile) c.1746G>C (p.Met582Ile) c.1743G>C (p.Met581Ile) c.1662G>C (p.Met554Ile) c.1659G>C (p.Met553Ile) | |
X | g.20164935C>T | CA412514073 | RPS6KA3 | c.1728G>A (p.Met576Ile) c.1641G>A (p.Met547Ile) c.1644G>A (p.Met548Ile) c.1346G>A (n.1346G>A) c.*949G>A (n.*949G>A) n.395G>A c.1725G>A (p.Met575Ile) c.1638G>A (p.Met546Ile) c.1746G>A (p.Met582Ile) c.1743G>A (p.Met581Ile) c.1662G>A (p.Met554Ile) c.1659G>A (p.Met553Ile) | |
X | g.20164936A>C | CA412514074 | RPS6KA3 | c.1727T>G (p.Met576Arg) c.1640T>G (p.Met547Arg) c.1643T>G (p.Met548Arg) c.1345T>G (n.1345T>G) c.*948T>G (n.*948T>G) n.394T>G c.1724T>G (p.Met575Arg) c.1637T>G (p.Met546Arg) c.1745T>G (p.Met582Arg) c.1742T>G (p.Met581Arg) c.1661T>G (p.Met554Arg) c.1658T>G (p.Met553Arg) | |
X | g.20164936A>G | CA412514075 | RPS6KA3 | c.1727T>C (p.Met576Thr) c.1640T>C (p.Met547Thr) c.1643T>C (p.Met548Thr) c.1345T>C (n.1345T>C) c.*948T>C (n.*948T>C) n.394T>C c.1724T>C (p.Met575Thr) c.1637T>C (p.Met546Thr) c.1745T>C (p.Met582Thr) c.1742T>C (p.Met581Thr) c.1661T>C (p.Met554Thr) c.1658T>C (p.Met553Thr) | COSMIC |
X | g.20164936A>T | CA412514076 | RPS6KA3 | c.1727T>A (p.Met576Lys) c.1640T>A (p.Met547Lys) c.1643T>A (p.Met548Lys) c.1345T>A (n.1345T>A) c.*948T>A (n.*948T>A) n.394T>A c.1724T>A (p.Met575Lys) c.1637T>A (p.Met546Lys) c.1745T>A (p.Met582Lys) c.1742T>A (p.Met581Lys) c.1661T>A (p.Met554Lys) c.1658T>A (p.Met553Lys) | |
X | g.20164937T>A | CA412514077 | RPS6KA3 | c.1726A>T (p.Met576Leu) c.1639A>T (p.Met547Leu) c.1642A>T (p.Met548Leu) c.1344A>T (n.1344A>T) c.*947A>T (n.*947A>T) n.393A>T c.1723A>T (p.Met575Leu) c.1636A>T (p.Met546Leu) c.1744A>T (p.Met582Leu) c.1741A>T (p.Met581Leu) c.1660A>T (p.Met554Leu) c.1657A>T (p.Met553Leu) | |
X | g.20164937T>C | CA412514078 | RPS6KA3 | c.1726A>G (p.Met576Val) c.1639A>G (p.Met547Val) c.1642A>G (p.Met548Val) c.1344A>G (n.1344A>G) c.*947A>G (n.*947A>G) n.393A>G c.1723A>G (p.Met575Val) c.1636A>G (p.Met546Val) c.1744A>G (p.Met582Val) c.1741A>G (p.Met581Val) c.1660A>G (p.Met554Val) c.1657A>G (p.Met553Val) | |
X | g.20164937T>G | CA412514079 | RPS6KA3 | c.1726A>C (p.Met576Leu) c.1639A>C (p.Met547Leu) c.1642A>C (p.Met548Leu) c.1344A>C (n.1344A>C) c.*947A>C (n.*947A>C) n.393A>C c.1723A>C (p.Met575Leu) c.1636A>C (p.Met546Leu) c.1744A>C (p.Met582Leu) c.1741A>C (p.Met581Leu) c.1660A>C (p.Met554Leu) c.1657A>C (p.Met553Leu) | |
X | g.20164938del | CA2693277051 | RPS6KA3 | c.1725del (p.Met576Ter) c.1638del (p.Met547Ter) c.1641del (p.Met548Ter) c.1343del (n.1343del) c.*946del (n.*946del) n.392del c.1722del (p.Met575Ter) c.1635del (p.Met546Ter) c.1743del (p.Met582Ter) c.1740del (p.Met581Ter) c.1659del (p.Met554Ter) c.1656del (p.Met553Ter) | gnomAD v4 |
X | g.20164938G>A | CA515613719 | RPS6KA3 | c.1725C>T (p.Leu575=) c.1638C>T (p.Leu546=) c.1641C>T (p.Leu547=) c.1343C>T (n.1343C>T) c.*946C>T (n.*946C>T) n.392C>T c.1722C>T (p.Leu574=) c.1635C>T (p.Leu545=) c.1743C>T (p.Leu581=) c.1740C>T (p.Leu580=) c.1659C>T (p.Leu553=) c.1656C>T (p.Leu552=) | |
X | g.20164938G>C | CA515613720 | RPS6KA3 | c.1725C>G (p.Leu575=) c.1638C>G (p.Leu546=) c.1641C>G (p.Leu547=) c.1343C>G (n.1343C>G) c.*946C>G (n.*946C>G) n.392C>G c.1722C>G (p.Leu574=) c.1635C>G (p.Leu545=) c.1743C>G (p.Leu581=) c.1740C>G (p.Leu580=) c.1659C>G (p.Leu553=) c.1656C>G (p.Leu552=) | |
X | g.20164938G>T | CA515613721 | RPS6KA3 | c.1725C>A (p.Leu575=) c.1638C>A (p.Leu546=) c.1641C>A (p.Leu547=) c.1343C>A (n.1343C>A) c.*946C>A (n.*946C>A) n.392C>A c.1722C>A (p.Leu574=) c.1635C>A (p.Leu545=) c.1743C>A (p.Leu581=) c.1740C>A (p.Leu580=) c.1659C>A (p.Leu553=) c.1656C>A (p.Leu552=) | |
X | g.20164939A>C | CA412514081 | RPS6KA3 | c.1724T>G (p.Leu575Arg) c.1637T>G (p.Leu546Arg) c.1640T>G (p.Leu547Arg) c.1342T>G (n.1342T>G) c.*945T>G (n.*945T>G) n.391T>G c.1721T>G (p.Leu574Arg) c.1634T>G (p.Leu545Arg) c.1742T>G (p.Leu581Arg) c.1739T>G (p.Leu580Arg) c.1658T>G (p.Leu553Arg) c.1655T>G (p.Leu552Arg) | |
X | g.20164939A>G | CA412514082 | RPS6KA3 | c.1724T>C (p.Leu575Pro) c.1637T>C (p.Leu546Pro) c.1640T>C (p.Leu547Pro) c.1342T>C (n.1342T>C) c.*945T>C (n.*945T>C) n.391T>C c.1721T>C (p.Leu574Pro) c.1634T>C (p.Leu545Pro) c.1742T>C (p.Leu581Pro) c.1739T>C (p.Leu580Pro) c.1658T>C (p.Leu553Pro) c.1655T>C (p.Leu552Pro) | |
X | g.20164939A>T | CA412514080 | RPS6KA3 | c.1724T>A (p.Leu575His) c.1637T>A (p.Leu546His) c.1640T>A (p.Leu547His) c.1342T>A (n.1342T>A) c.*945T>A (n.*945T>A) n.391T>A c.1721T>A (p.Leu574His) c.1634T>A (p.Leu545His) c.1742T>A (p.Leu581His) c.1739T>A (p.Leu580His) c.1658T>A (p.Leu553His) c.1655T>A (p.Leu552His) | |
X | g.20164940G>A | CA412514083 | RPS6KA3 | c.1723C>T (p.Leu575Phe) c.1636C>T (p.Leu546Phe) c.1639C>T (p.Leu547Phe) c.1341C>T (n.1341C>T) c.*944C>T (n.*944C>T) n.390C>T c.1720C>T (p.Leu574Phe) c.1633C>T (p.Leu545Phe) c.1741C>T (p.Leu581Phe) c.1738C>T (p.Leu580Phe) c.1657C>T (p.Leu553Phe) c.1654C>T (p.Leu552Phe) | |
X | g.20164940G>C | CA412514084 | RPS6KA3 | c.1723C>G (p.Leu575Val) c.1636C>G (p.Leu546Val) c.1639C>G (p.Leu547Val) c.1341C>G (n.1341C>G) c.*944C>G (n.*944C>G) n.390C>G c.1720C>G (p.Leu574Val) c.1633C>G (p.Leu545Val) c.1741C>G (p.Leu581Val) c.1738C>G (p.Leu580Val) c.1657C>G (p.Leu553Val) c.1654C>G (p.Leu552Val) | |
X | g.20164940G>T | CA412514085 | RPS6KA3 | c.1723C>A (p.Leu575Ile) c.1636C>A (p.Leu546Ile) c.1639C>A (p.Leu547Ile) c.1341C>A (n.1341C>A) c.*944C>A (n.*944C>A) n.390C>A c.1720C>A (p.Leu574Ile) c.1633C>A (p.Leu545Ile) c.1741C>A (p.Leu581Ile) c.1738C>A (p.Leu580Ile) c.1657C>A (p.Leu553Ile) c.1654C>A (p.Leu552Ile) | |
X | g.20164941A>C | CA515613725 | RPS6KA3 | c.1722T>G (p.Leu574=) c.1635T>G (p.Leu545=) c.1638T>G (p.Leu546=) c.1340T>G (n.1340T>G) c.*943T>G (n.*943T>G) n.389T>G c.1719T>G (p.Leu573=) c.1632T>G (p.Leu544=) c.1740T>G (p.Leu580=) c.1737T>G (p.Leu579=) c.1656T>G (p.Leu552=) c.1653T>G (p.Leu551=) | |
X | g.20164941A>G | CA515613727 | RPS6KA3 | c.1722T>C (p.Leu574=) c.1635T>C (p.Leu545=) c.1638T>C (p.Leu546=) c.1340T>C (n.1340T>C) c.*943T>C (n.*943T>C) n.389T>C c.1719T>C (p.Leu573=) c.1632T>C (p.Leu544=) c.1740T>C (p.Leu580=) c.1737T>C (p.Leu579=) c.1656T>C (p.Leu552=) c.1653T>C (p.Leu551=) | |
X | g.20164941A>T | CA515613726 | RPS6KA3 | c.1722T>A (p.Leu574=) c.1635T>A (p.Leu545=) c.1638T>A (p.Leu546=) c.1340T>A (n.1340T>A) c.*943T>A (n.*943T>A) n.389T>A c.1719T>A (p.Leu573=) c.1632T>A (p.Leu544=) c.1740T>A (p.Leu580=) c.1737T>A (p.Leu579=) c.1656T>A (p.Leu552=) c.1653T>A (p.Leu551=) | |
X | g.20164942A>C | CA412514086 | RPS6KA3 | c.1721T>G (p.Leu574Arg) c.1634T>G (p.Leu545Arg) c.1637T>G (p.Leu546Arg) c.1339T>G (n.1339T>G) c.*942T>G (n.*942T>G) n.388T>G c.1718T>G (p.Leu573Arg) c.1631T>G (p.Leu544Arg) c.1739T>G (p.Leu580Arg) c.1736T>G (p.Leu579Arg) c.1655T>G (p.Leu552Arg) c.1652T>G (p.Leu551Arg) | |
X | g.20164942A>G | CA412514087 | RPS6KA3 | c.1721T>C (p.Leu574Pro) c.1634T>C (p.Leu545Pro) c.1637T>C (p.Leu546Pro) c.1339T>C (n.1339T>C) c.*942T>C (n.*942T>C) n.388T>C c.1718T>C (p.Leu573Pro) c.1631T>C (p.Leu544Pro) c.1739T>C (p.Leu580Pro) c.1736T>C (p.Leu579Pro) c.1655T>C (p.Leu552Pro) c.1652T>C (p.Leu551Pro) | |
X | g.20164942A>T | CA412514088 | RPS6KA3 | c.1721T>A (p.Leu574His) c.1634T>A (p.Leu545His) c.1637T>A (p.Leu546His) c.1339T>A (n.1339T>A) c.*942T>A (n.*942T>A) n.388T>A c.1718T>A (p.Leu573His) c.1631T>A (p.Leu544His) c.1739T>A (p.Leu580His) c.1736T>A (p.Leu579His) c.1655T>A (p.Leu552His) c.1652T>A (p.Leu551His) | |
X | g.20164943G>A | CA412514091 | RPS6KA3 | c.1720C>T (p.Leu574Phe) c.1633C>T (p.Leu545Phe) c.1636C>T (p.Leu546Phe) c.1338C>T (n.1338C>T) c.*941C>T (n.*941C>T) n.387C>T c.1717C>T (p.Leu573Phe) c.1630C>T (p.Leu544Phe) c.1738C>T (p.Leu580Phe) c.1735C>T (p.Leu579Phe) c.1654C>T (p.Leu552Phe) c.1651C>T (p.Leu551Phe) | |
X | g.20164943G>C | CA412514089 | RPS6KA3 | c.1720C>G (p.Leu574Val) c.1633C>G (p.Leu545Val) c.1636C>G (p.Leu546Val) c.1338C>G (n.1338C>G) c.*941C>G (n.*941C>G) n.387C>G c.1717C>G (p.Leu573Val) c.1630C>G (p.Leu544Val) c.1738C>G (p.Leu580Val) c.1735C>G (p.Leu579Val) c.1654C>G (p.Leu552Val) c.1651C>G (p.Leu551Val) | |
X | g.20164943G>T | CA412514090 | RPS6KA3 | c.1720C>A (p.Leu574Ile) c.1633C>A (p.Leu545Ile) c.1636C>A (p.Leu546Ile) c.1338C>A (n.1338C>A) c.*941C>A (n.*941C>A) n.387C>A c.1717C>A (p.Leu573Ile) c.1630C>A (p.Leu544Ile) c.1738C>A (p.Leu580Ile) c.1735C>A (p.Leu579Ile) c.1654C>A (p.Leu552Ile) c.1651C>A (p.Leu551Ile) | |
X | g.20164943dup | CA645601240 | RPS6KA3 | c.1720dup (p.Leu574ProfsTer23) c.1633dup (p.Leu545ProfsTer23) c.1636dup (p.Leu546ProfsTer23) c.1338dup (n.1338dup) c.*941dup (n.*941dup) n.387dup c.1717dup (p.Leu573ProfsTer23) c.1630dup (p.Leu544ProfsTer23) c.1738dup (p.Leu580ProfsTer23) c.1735dup (p.Leu579ProfsTer23) c.1654dup (p.Leu552ProfsTer23) c.1651dup (p.Leu551ProfsTer23) | COSMIC |
X | g.20164943_20164944insC | CA515613732 | RPS6KA3 | c.1719_1720insG (p.Leu574AlafsTer23) c.1632_1633insG (p.Leu545AlafsTer23) c.1635_1636insG (p.Leu546AlafsTer23) c.1337_1338insG (n.1337_1338insG) c.*940_*941insG (n.*940_*941insG) n.386_387insG c.1716_1717insG (p.Leu573AlafsTer23) c.1629_1630insG (p.Leu544AlafsTer23) c.1737_1738insG (p.Leu580AlafsTer23) c.1734_1735insG (p.Leu579AlafsTer23) c.1653_1654insG (p.Leu552AlafsTer23) c.1650_1651insG (p.Leu551AlafsTer23) | |
X | g.20164944A>C | CA515613731 | RPS6KA3 | c.1719T>G (p.Gly573=) c.1632T>G (p.Gly544=) c.1635T>G (p.Gly545=) c.1337T>G (n.1337T>G) c.*940T>G (n.*940T>G) n.386T>G c.1716T>G (p.Gly572=) c.1629T>G (p.Gly543=) c.1737T>G (p.Gly579=) c.1734T>G (p.Gly578=) c.1653T>G (p.Gly551=) c.1650T>G (p.Gly550=) | |
X | g.20164944A>G | CA515613729 | RPS6KA3 | c.1719T>C (p.Gly573=) c.1632T>C (p.Gly544=) c.1635T>C (p.Gly545=) c.1337T>C (n.1337T>C) c.*940T>C (n.*940T>C) n.386T>C c.1716T>C (p.Gly572=) c.1629T>C (p.Gly543=) c.1737T>C (p.Gly579=) c.1734T>C (p.Gly578=) c.1653T>C (p.Gly551=) c.1650T>C (p.Gly550=) | gnomAD v4 |
X | g.20164944A>T | CA515613730 | RPS6KA3 | c.1719T>A (p.Gly573=) c.1632T>A (p.Gly544=) c.1635T>A (p.Gly545=) c.1337T>A (n.1337T>A) c.*940T>A (n.*940T>A) n.386T>A c.1716T>A (p.Gly572=) c.1629T>A (p.Gly543=) c.1737T>A (p.Gly579=) c.1734T>A (p.Gly578=) c.1653T>A (p.Gly551=) c.1650T>A (p.Gly550=) | |
X | g.20164945C>A | CA412514092 | RPS6KA3 | c.1718G>T (p.Gly573Val) c.1631G>T (p.Gly544Val) c.1634G>T (p.Gly545Val) c.1336G>T (n.1336G>T) c.*939G>T (n.*939G>T) n.385G>T c.1715G>T (p.Gly572Val) c.1628G>T (p.Gly543Val) c.1736G>T (p.Gly579Val) c.1733G>T (p.Gly578Val) c.1652G>T (p.Gly551Val) c.1649G>T (p.Gly550Val) | |
X | g.20164945C>G | CA412514093 | RPS6KA3 | c.1718G>C (p.Gly573Ala) c.1631G>C (p.Gly544Ala) c.1634G>C (p.Gly545Ala) c.1336G>C (n.1336G>C) c.*939G>C (n.*939G>C) n.385G>C c.1715G>C (p.Gly572Ala) c.1628G>C (p.Gly543Ala) c.1736G>C (p.Gly579Ala) c.1733G>C (p.Gly578Ala) c.1652G>C (p.Gly551Ala) c.1649G>C (p.Gly550Ala) | |
X | g.20164945C>T | CA412514094 | RPS6KA3 | c.1718G>A (p.Gly573Asp) c.1631G>A (p.Gly544Asp) c.1634G>A (p.Gly545Asp) c.1336G>A (n.1336G>A) c.*939G>A (n.*939G>A) n.385G>A c.1715G>A (p.Gly572Asp) c.1628G>A (p.Gly543Asp) c.1736G>A (p.Gly579Asp) c.1733G>A (p.Gly578Asp) c.1652G>A (p.Gly551Asp) c.1649G>A (p.Gly550Asp) | |
X | g.20164946del | CA2579569135 | RPS6KA3 | c.1718del (p.Gly573ValfsTer4) c.1631del (p.Gly544ValfsTer4) c.1634del (p.Gly545ValfsTer4) c.1336del (n.1336del) c.*939del (n.*939del) n.385del c.1715del (p.Gly572ValfsTer4) c.1628del (p.Gly543ValfsTer4) c.1736del (p.Gly579ValfsTer4) c.1733del (p.Gly578ValfsTer4) c.1652del (p.Gly551ValfsTer4) c.1649del (p.Gly550ValfsTer4) | |
X | g.20164946C>A | CA412514095 | RPS6KA3 | c.1717G>T (p.Gly573Cys) c.1630G>T (p.Gly544Cys) c.1633G>T (p.Gly545Cys) c.1335G>T (n.1335G>T) c.*938G>T (n.*938G>T) n.384G>T c.1714G>T (p.Gly572Cys) c.1627G>T (p.Gly543Cys) c.1735G>T (p.Gly579Cys) c.1732G>T (p.Gly578Cys) c.1651G>T (p.Gly551Cys) c.1648G>T (p.Gly550Cys) | |
X | g.20164946C>G | CA412514096 | RPS6KA3 | c.1717G>C (p.Gly573Arg) c.1630G>C (p.Gly544Arg) c.1633G>C (p.Gly545Arg) c.1335G>C (n.1335G>C) c.*938G>C (n.*938G>C) n.384G>C c.1714G>C (p.Gly572Arg) c.1627G>C (p.Gly543Arg) c.1735G>C (p.Gly579Arg) c.1732G>C (p.Gly578Arg) c.1651G>C (p.Gly551Arg) c.1648G>C (p.Gly550Arg) | |
X | g.20164946C>T | CA412514097 | RPS6KA3 | c.1717G>A (p.Gly573Ser) c.1630G>A (p.Gly544Ser) c.1633G>A (p.Gly545Ser) c.1335G>A (n.1335G>A) c.*938G>A (n.*938G>A) n.384G>A c.1714G>A (p.Gly572Ser) c.1627G>A (p.Gly543Ser) c.1735G>A (p.Gly579Ser) c.1732G>A (p.Gly578Ser) c.1651G>A (p.Gly551Ser) c.1648G>A (p.Gly550Ser) | |
X | g.20164947A>C | CA412514099 | RPS6KA3 | c.1716T>G (p.Asn572Lys) c.1629T>G (p.Asn543Lys) c.1632T>G (p.Asn544Lys) c.1334T>G (n.1334T>G) c.*937T>G (n.*937T>G) n.383T>G c.1713T>G (p.Asn571Lys) c.1626T>G (p.Asn542Lys) c.1734T>G (p.Asn578Lys) c.1731T>G (p.Asn577Lys) c.1650T>G (p.Asn550Lys) c.1647T>G (p.Asn549Lys) | |
X | g.20164947A>G | CA515613733 | RPS6KA3 | c.1716T>C (p.Asn572=) c.1629T>C (p.Asn543=) c.1632T>C (p.Asn544=) c.1334T>C (n.1334T>C) c.*937T>C (n.*937T>C) n.383T>C c.1713T>C (p.Asn571=) c.1626T>C (p.Asn542=) c.1734T>C (p.Asn578=) c.1731T>C (p.Asn577=) c.1650T>C (p.Asn550=) c.1647T>C (p.Asn549=) | |
X | g.20164947A>T | CA412514098 | RPS6KA3 | c.1716T>A (p.Asn572Lys) c.1629T>A (p.Asn543Lys) c.1632T>A (p.Asn544Lys) c.1334T>A (n.1334T>A) c.*937T>A (n.*937T>A) n.383T>A c.1713T>A (p.Asn571Lys) c.1626T>A (p.Asn542Lys) c.1734T>A (p.Asn578Lys) c.1731T>A (p.Asn577Lys) c.1650T>A (p.Asn550Lys) c.1647T>A (p.Asn549Lys) | |
X | g.20164948T>A | CA412514100 | RPS6KA3 | c.1715A>T (p.Asn572Ile) c.1628A>T (p.Asn543Ile) c.1631A>T (p.Asn544Ile) c.1333A>T (n.1333A>T) c.*936A>T (n.*936A>T) n.382A>T c.1712A>T (p.Asn571Ile) c.1625A>T (p.Asn542Ile) c.1733A>T (p.Asn578Ile) c.1730A>T (p.Asn577Ile) c.1649A>T (p.Asn550Ile) c.1646A>T (p.Asn549Ile) | |
X | g.20164948T>C | CA412514102 | RPS6KA3 | c.1715A>G (p.Asn572Ser) c.1628A>G (p.Asn543Ser) c.1631A>G (p.Asn544Ser) c.1333A>G (n.1333A>G) c.*936A>G (n.*936A>G) n.382A>G c.1712A>G (p.Asn571Ser) c.1625A>G (p.Asn542Ser) c.1733A>G (p.Asn578Ser) c.1730A>G (p.Asn577Ser) c.1649A>G (p.Asn550Ser) c.1646A>G (p.Asn549Ser) | |
X | g.20164948T>G | CA412514101 | RPS6KA3 | c.1715A>C (p.Asn572Thr) c.1628A>C (p.Asn543Thr) c.1631A>C (p.Asn544Thr) c.1333A>C (n.1333A>C) c.*936A>C (n.*936A>C) n.382A>C c.1712A>C (p.Asn571Thr) c.1625A>C (p.Asn542Thr) c.1733A>C (p.Asn578Thr) c.1730A>C (p.Asn577Thr) c.1649A>C (p.Asn550Thr) c.1646A>C (p.Asn549Thr) | |
X | g.20164951del | CA2579569137 | RPS6KA3 | c.1715del (p.Asn572MetfsTer5) c.1628del (p.Asn543MetfsTer5) c.1631del (p.Asn544MetfsTer5) c.1333del (n.1333del) c.*936del (n.*936del) n.382del c.1712del (p.Asn571MetfsTer5) c.1625del (p.Asn542MetfsTer5) c.1733del (p.Asn578MetfsTer5) c.1730del (p.Asn577MetfsTer5) c.1649del (p.Asn550MetfsTer5) c.1646del (p.Asn549MetfsTer5) | gnomAD v4 |
X | g.20164949T>A | CA412514103 | RPS6KA3 | c.1714A>T (p.Asn572Tyr) c.1627A>T (p.Asn543Tyr) c.1630A>T (p.Asn544Tyr) c.1332A>T (n.1332A>T) c.*935A>T (n.*935A>T) n.381A>T c.1711A>T (p.Asn571Tyr) c.1624A>T (p.Asn542Tyr) c.1732A>T (p.Asn578Tyr) c.1729A>T (p.Asn577Tyr) c.1648A>T (p.Asn550Tyr) c.1645A>T (p.Asn549Tyr) | |
X | g.20164949T>C | CA412514104 | RPS6KA3 | c.1714A>G (p.Asn572Asp) c.1627A>G (p.Asn543Asp) c.1630A>G (p.Asn544Asp) c.1332A>G (n.1332A>G) c.*935A>G (n.*935A>G) n.381A>G c.1711A>G (p.Asn571Asp) c.1624A>G (p.Asn542Asp) c.1732A>G (p.Asn578Asp) c.1729A>G (p.Asn577Asp) c.1648A>G (p.Asn550Asp) c.1645A>G (p.Asn549Asp) | |
X | g.20164949T>G | CA412514105 | RPS6KA3 | c.1714A>C (p.Asn572His) c.1627A>C (p.Asn543His) c.1630A>C (p.Asn544His) c.1332A>C (n.1332A>C) c.*935A>C (n.*935A>C) n.381A>C c.1711A>C (p.Asn571His) c.1624A>C (p.Asn542His) c.1732A>C (p.Asn578His) c.1729A>C (p.Asn577His) c.1648A>C (p.Asn550His) c.1645A>C (p.Asn549His) | |
X | g.20164950T>A | CA412514106 | RPS6KA3 | c.1713A>T (p.Glu571Asp) c.1626A>T (p.Glu542Asp) c.1629A>T (p.Glu543Asp) c.1331A>T (n.1331A>T) c.*934A>T (n.*934A>T) n.380A>T c.1710A>T (p.Glu570Asp) c.1623A>T (p.Glu541Asp) c.1731A>T (p.Glu577Asp) c.1728A>T (p.Glu576Asp) c.1647A>T (p.Glu549Asp) c.1644A>T (p.Glu548Asp) | |
X | g.20164950T>C | CA515613734 | RPS6KA3 | c.1713A>G (p.Glu571=) c.1626A>G (p.Glu542=) c.1629A>G (p.Glu543=) c.1331A>G (n.1331A>G) c.*934A>G (n.*934A>G) n.380A>G c.1710A>G (p.Glu570=) c.1623A>G (p.Glu541=) c.1731A>G (p.Glu577=) c.1728A>G (p.Glu576=) c.1647A>G (p.Glu549=) c.1644A>G (p.Glu548=) | |
X | g.20164950T>G | CA412514107 | RPS6KA3 | c.1713A>C (p.Glu571Asp) c.1626A>C (p.Glu542Asp) c.1629A>C (p.Glu543Asp) c.1331A>C (n.1331A>C) c.*934A>C (n.*934A>C) n.380A>C c.1710A>C (p.Glu570Asp) c.1623A>C (p.Glu541Asp) c.1731A>C (p.Glu577Asp) c.1728A>C (p.Glu576Asp) c.1647A>C (p.Glu549Asp) c.1644A>C (p.Glu548Asp) | |
X | g.20164951T>A | CA412514108 | RPS6KA3 | c.1712A>T (p.Glu571Val) c.1625A>T (p.Glu542Val) c.1628A>T (p.Glu543Val) c.1330A>T (n.1330A>T) c.*933A>T (n.*933A>T) n.379A>T c.1709A>T (p.Glu570Val) c.1622A>T (p.Glu541Val) c.1730A>T (p.Glu577Val) c.1727A>T (p.Glu576Val) c.1646A>T (p.Glu549Val) c.1643A>T (p.Glu548Val) | |
X | g.20164951T>C | CA412514109 | RPS6KA3 | c.1712A>G (p.Glu571Gly) c.1625A>G (p.Glu542Gly) c.1628A>G (p.Glu543Gly) c.1330A>G (n.1330A>G) c.*933A>G (n.*933A>G) n.379A>G c.1709A>G (p.Glu570Gly) c.1622A>G (p.Glu541Gly) c.1730A>G (p.Glu577Gly) c.1727A>G (p.Glu576Gly) c.1646A>G (p.Glu549Gly) c.1643A>G (p.Glu548Gly) | |
X | g.20164951T>G | CA412514110 | RPS6KA3 | c.1712A>C (p.Glu571Ala) c.1625A>C (p.Glu542Ala) c.1628A>C (p.Glu543Ala) c.1330A>C (n.1330A>C) c.*933A>C (n.*933A>C) n.379A>C c.1709A>C (p.Glu570Ala) c.1622A>C (p.Glu541Ala) c.1730A>C (p.Glu577Ala) c.1727A>C (p.Glu576Ala) c.1646A>C (p.Glu549Ala) c.1643A>C (p.Glu548Ala) | |
X | g.20164952C>A | CA412514111 | RPS6KA3 | c.1711G>T (p.Glu571Ter) c.1624G>T (p.Glu542Ter) c.1627G>T (p.Glu543Ter) c.1329G>T (n.1329G>T) c.*932G>T (n.*932G>T) n.378G>T c.1708G>T (p.Glu570Ter) c.1621G>T (p.Glu541Ter) c.1729G>T (p.Glu577Ter) c.1726G>T (p.Glu576Ter) c.1645G>T (p.Glu549Ter) c.1642G>T (p.Glu548Ter) | |
X | g.20164952C>G | CA412514112 | RPS6KA3 | c.1711G>C (p.Glu571Gln) c.1624G>C (p.Glu542Gln) c.1627G>C (p.Glu543Gln) c.1329G>C (n.1329G>C) c.*932G>C (n.*932G>C) n.378G>C c.1708G>C (p.Glu570Gln) c.1621G>C (p.Glu541Gln) c.1729G>C (p.Glu577Gln) c.1726G>C (p.Glu576Gln) c.1645G>C (p.Glu549Gln) c.1642G>C (p.Glu548Gln) | |
X | g.20164952C>T | CA412514113 | RPS6KA3 | c.1711G>A (p.Glu571Lys) c.1624G>A (p.Glu542Lys) c.1627G>A (p.Glu543Lys) c.1329G>A (n.1329G>A) c.*932G>A (n.*932G>A) n.378G>A c.1708G>A (p.Glu570Lys) c.1621G>A (p.Glu541Lys) c.1729G>A (p.Glu577Lys) c.1726G>A (p.Glu576Lys) c.1645G>A (p.Glu549Lys) c.1642G>A (p.Glu548Lys) | |
X | g.20164953C>A | CA515613739 | RPS6KA3 | c.1710G>T (p.Ala570=) c.1623G>T (p.Ala541=) c.1626G>T (p.Ala542=) c.1328G>T (n.1328G>T) c.*931G>T (n.*931G>T) n.377G>T c.1707G>T (p.Ala569=) c.1620G>T (p.Ala540=) c.1728G>T (p.Ala576=) c.1725G>T (p.Ala575=) c.1644G>T (p.Ala548=) c.1641G>T (p.Ala547=) | |
X | g.20164953C= | CA2418505964 | RPS6KA3 | c.1710G= (p.Ala570=) c.1623G= (p.Ala541=) c.1626G= (p.Ala542=) c.1328G= (n.1328G=) c.*931G= (n.*931G=) n.377G= c.1707G= (p.Ala569=) c.1620G= (p.Ala540=) c.1728G= (p.Ala576=) c.1725G= (p.Ala575=) c.1644G= (p.Ala548=) c.1641G= (p.Ala547=) | |
X | g.20164953C>G | CA515613740 | RPS6KA3 | c.1710G>C (p.Ala570=) c.1623G>C (p.Ala541=) c.1626G>C (p.Ala542=) c.1328G>C (n.1328G>C) c.*931G>C (n.*931G>C) n.377G>C c.1707G>C (p.Ala569=) c.1620G>C (p.Ala540=) c.1728G>C (p.Ala576=) c.1725G>C (p.Ala575=) c.1644G>C (p.Ala548=) c.1641G>C (p.Ala547=) | |
X | g.20164953C>T | CA10366078 | RPS6KA3 | c.1710G>A (p.Ala570=) c.1623G>A (p.Ala541=) c.1626G>A (p.Ala542=) c.1328G>A (n.1328G>A) c.*931G>A (n.*931G>A) n.377G>A c.1707G>A (p.Ala569=) c.1620G>A (p.Ala540=) c.1728G>A (p.Ala576=) c.1725G>A (p.Ala575=) c.1644G>A (p.Ala548=) c.1641G>A (p.Ala547=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.20164954G>A | CA327474164 | RPS6KA3 | c.1709C>T (p.Ala570Val) c.1622C>T (p.Ala541Val) c.1625C>T (p.Ala542Val) c.1327C>T (n.1327C>T) c.*930C>T (n.*930C>T) n.376C>T c.1706C>T (p.Ala569Val) c.1619C>T (p.Ala540Val) c.1727C>T (p.Ala576Val) c.1724C>T (p.Ala575Val) c.1643C>T (p.Ala548Val) c.1640C>T (p.Ala547Val) | dbSNP gnomAD v4 |
X | g.20164954G>C | CA412514115 | RPS6KA3 | c.1709C>G (p.Ala570Gly) c.1622C>G (p.Ala541Gly) c.1625C>G (p.Ala542Gly) c.1327C>G (n.1327C>G) c.*930C>G (n.*930C>G) n.376C>G c.1706C>G (p.Ala569Gly) c.1619C>G (p.Ala540Gly) c.1727C>G (p.Ala576Gly) c.1724C>G (p.Ala575Gly) c.1643C>G (p.Ala548Gly) c.1640C>G (p.Ala547Gly) | |
X | g.20164954G= | CA2418505965 | RPS6KA3 | c.1709C= (p.Ala570=) c.1622C= (p.Ala541=) c.1625C= (p.Ala542=) c.1327C= (n.1327C=) c.*930C= (n.*930C=) n.376C= c.1706C= (p.Ala569=) c.1619C= (p.Ala540=) c.1727C= (p.Ala576=) c.1724C= (p.Ala575=) c.1643C= (p.Ala548=) c.1640C= (p.Ala547=) | |
X | g.20164954G>T | CA412514114 | RPS6KA3 | c.1709C>A (p.Ala570Glu) c.1622C>A (p.Ala541Glu) c.1625C>A (p.Ala542Glu) c.1327C>A (n.1327C>A) c.*930C>A (n.*930C>A) n.376C>A c.1706C>A (p.Ala569Glu) c.1619C>A (p.Ala540Glu) c.1727C>A (p.Ala576Glu) c.1724C>A (p.Ala575Glu) c.1643C>A (p.Ala548Glu) c.1640C>A (p.Ala547Glu) | |
X | g.20164955C>A | CA412514116 | RPS6KA3 | c.1708G>T (p.Ala570Ser) c.1621G>T (p.Ala541Ser) c.1624G>T (p.Ala542Ser) c.1326G>T (n.1326G>T) c.*929G>T (n.*929G>T) n.375G>T c.1705G>T (p.Ala569Ser) c.1618G>T (p.Ala540Ser) c.1726G>T (p.Ala576Ser) c.1723G>T (p.Ala575Ser) c.1642G>T (p.Ala548Ser) c.1639G>T (p.Ala547Ser) | |
X | g.20164955C>G | CA412514117 | RPS6KA3 | c.1708G>C (p.Ala570Pro) c.1621G>C (p.Ala541Pro) c.1624G>C (p.Ala542Pro) c.1326G>C (n.1326G>C) c.*929G>C (n.*929G>C) n.375G>C c.1705G>C (p.Ala569Pro) c.1618G>C (p.Ala540Pro) c.1726G>C (p.Ala576Pro) c.1723G>C (p.Ala575Pro) c.1642G>C (p.Ala548Pro) c.1639G>C (p.Ala547Pro) | |
X | g.20164955C>T | CA412514118 | RPS6KA3 | c.1708G>A (p.Ala570Thr) c.1621G>A (p.Ala541Thr) c.1624G>A (p.Ala542Thr) c.1326G>A (n.1326G>A) c.*929G>A (n.*929G>A) n.375G>A c.1705G>A (p.Ala569Thr) c.1618G>A (p.Ala540Thr) c.1726G>A (p.Ala576Thr) c.1723G>A (p.Ala575Thr) c.1642G>A (p.Ala548Thr) c.1639G>A (p.Ala547Thr) | |
X | g.20164956T>A | CA412514119 | RPS6KA3 | c.1707A>T (p.Arg569Ser) c.1620A>T (p.Arg540Ser) c.1623A>T (p.Arg541Ser) c.1325A>T (n.1325A>T) c.*928A>T (n.*928A>T) n.374A>T c.1704A>T (p.Arg568Ser) c.1617A>T (p.Arg539Ser) c.1725A>T (p.Arg575Ser) c.1722A>T (p.Arg574Ser) c.1641A>T (p.Arg547Ser) c.1638A>T (p.Arg546Ser) | |
X | g.20164956T>C | CA515613744 | RPS6KA3 | c.1707A>G (p.Arg569=) c.1620A>G (p.Arg540=) c.1623A>G (p.Arg541=) c.1325A>G (n.1325A>G) c.*928A>G (n.*928A>G) n.374A>G c.1704A>G (p.Arg568=) c.1617A>G (p.Arg539=) c.1725A>G (p.Arg575=) c.1722A>G (p.Arg574=) c.1641A>G (p.Arg547=) c.1638A>G (p.Arg546=) | |
X | g.20164956T>G | CA412514120 | RPS6KA3 | c.1707A>C (p.Arg569Ser) c.1620A>C (p.Arg540Ser) c.1623A>C (p.Arg541Ser) c.1325A>C (n.1325A>C) c.*928A>C (n.*928A>C) n.374A>C c.1704A>C (p.Arg568Ser) c.1617A>C (p.Arg539Ser) c.1725A>C (p.Arg575Ser) c.1722A>C (p.Arg574Ser) c.1641A>C (p.Arg547Ser) c.1638A>C (p.Arg546Ser) | |
X | g.20164957C>A | CA412514121 | RPS6KA3 | c.1706G>T (p.Arg569Ile) c.1619G>T (p.Arg540Ile) c.1622G>T (p.Arg541Ile) c.1324G>T (n.1324G>T) c.*927G>T (n.*927G>T) n.373G>T c.1703G>T (p.Arg568Ile) c.1616G>T (p.Arg539Ile) c.1724G>T (p.Arg575Ile) c.1721G>T (p.Arg574Ile) c.1640G>T (p.Arg547Ile) c.1637G>T (p.Arg546Ile) | |
X | g.20164957C>G | CA412514122 | RPS6KA3 | c.1706G>C (p.Arg569Thr) c.1619G>C (p.Arg540Thr) c.1622G>C (p.Arg541Thr) c.1324G>C (n.1324G>C) c.*927G>C (n.*927G>C) n.373G>C c.1703G>C (p.Arg568Thr) c.1616G>C (p.Arg539Thr) c.1724G>C (p.Arg575Thr) c.1721G>C (p.Arg574Thr) c.1640G>C (p.Arg547Thr) c.1637G>C (p.Arg546Thr) | |
X | g.20164957C>T | CA412514123 | RPS6KA3 | c.1706G>A (p.Arg569Lys) c.1619G>A (p.Arg540Lys) c.1622G>A (p.Arg541Lys) c.1324G>A (n.1324G>A) c.*927G>A (n.*927G>A) n.373G>A c.1703G>A (p.Arg568Lys) c.1616G>A (p.Arg539Lys) c.1724G>A (p.Arg575Lys) c.1721G>A (p.Arg574Lys) c.1640G>A (p.Arg547Lys) c.1637G>A (p.Arg546Lys) | |
X | g.20164957_20164958insGTAA | CA2509605900 | RPS6KA3 | c.1705_1706insTTAC (p.Arg569IlefsTer29) c.1618_1619insTTAC (p.Arg540IlefsTer29) c.1621_1622insTTAC (p.Arg541IlefsTer29) c.1323_1324insTTAC (n.1323_1324insTTAC) c.*926_*927insTTAC (n.*926_*927insTTAC) n.372_373insTTAC c.1702_1703insTTAC (p.Arg568IlefsTer29) c.1615_1616insTTAC (p.Arg539IlefsTer29) c.1723_1724insTTAC (p.Arg575IlefsTer29) c.1720_1721insTTAC (p.Arg574IlefsTer29) c.1639_1640insTTAC (p.Arg547IlefsTer29) c.1636_1637insTTAC (p.Arg546IlefsTer29) | |
X | g.20164958T>A | CA412514124 | RPS6KA3 | c.1705A>T (p.Arg569Ter) c.1618A>T (p.Arg540Ter) c.1621A>T (p.Arg541Ter) c.1323A>T (n.1323A>T) c.*926A>T (n.*926A>T) n.372A>T c.1702A>T (p.Arg568Ter) c.1615A>T (p.Arg539Ter) c.1723A>T (p.Arg575Ter) c.1720A>T (p.Arg574Ter) c.1639A>T (p.Arg547Ter) c.1636A>T (p.Arg546Ter) | |
X | g.20164958T>C | CA412514125 | RPS6KA3 | c.1705A>G (p.Arg569Gly) c.1618A>G (p.Arg540Gly) c.1621A>G (p.Arg541Gly) c.1323A>G (n.1323A>G) c.*926A>G (n.*926A>G) n.372A>G c.1702A>G (p.Arg568Gly) c.1615A>G (p.Arg539Gly) c.1723A>G (p.Arg575Gly) c.1720A>G (p.Arg574Gly) c.1639A>G (p.Arg547Gly) c.1636A>G (p.Arg546Gly) | |
X | g.20164958T>G | CA515613745 | RPS6KA3 | c.1705A>C (p.Arg569=) c.1618A>C (p.Arg540=) c.1621A>C (p.Arg541=) c.1323A>C (n.1323A>C) c.*926A>C (n.*926A>C) n.372A>C c.1702A>C (p.Arg568=) c.1615A>C (p.Arg539=) c.1723A>C (p.Arg575=) c.1720A>C (p.Arg574=) c.1639A>C (p.Arg547=) c.1636A>C (p.Arg546=) | |
X | g.20164959C>A | CA515613747 | RPS6KA3 | c.1704G>T (p.Leu568=) c.1617G>T (p.Leu539=) c.1620G>T (p.Leu540=) c.1322G>T (n.1322G>T) c.*925G>T (n.*925G>T) n.371G>T c.1701G>T (p.Leu567=) c.1614G>T (p.Leu538=) c.1722G>T (p.Leu574=) c.1719G>T (p.Leu573=) c.1638G>T (p.Leu546=) c.1635G>T (p.Leu545=) | |
X | g.20164959C>G | CA515613749 | RPS6KA3 | c.1704G>C (p.Leu568=) c.1617G>C (p.Leu539=) c.1620G>C (p.Leu540=) c.1322G>C (n.1322G>C) c.*925G>C (n.*925G>C) n.371G>C c.1701G>C (p.Leu567=) c.1614G>C (p.Leu538=) c.1722G>C (p.Leu574=) c.1719G>C (p.Leu573=) c.1638G>C (p.Leu546=) c.1635G>C (p.Leu545=) | |
X | g.20164959C>T | CA515613750 | RPS6KA3 | c.1704G>A (p.Leu568=) c.1617G>A (p.Leu539=) c.1620G>A (p.Leu540=) c.1322G>A (n.1322G>A) c.*925G>A (n.*925G>A) n.371G>A c.1701G>A (p.Leu567=) c.1614G>A (p.Leu538=) c.1722G>A (p.Leu574=) c.1719G>A (p.Leu573=) c.1638G>A (p.Leu546=) c.1635G>A (p.Leu545=) | COSMIC |
X | g.20164959_20164962del | CA2572157875 | RPS6KA3 | c.1701_1704del (p.Leu568GlufsTer8) c.1614_1617del (p.Leu539GlufsTer8) c.1617_1620del (p.Leu540GlufsTer8) c.1319_1322del (n.1319_1322del) c.*922_*925del (n.*922_*925del) n.369-1_371del c.1698_1701del (p.Leu567GlufsTer8) c.1611_1614del (p.Leu538GlufsTer8) c.1719_1722del (p.Leu574GlufsTer8) c.1716_1719del (p.Leu573GlufsTer8) c.1635_1638del (p.Leu546GlufsTer8) c.1632_1635del (p.Leu545GlufsTer8) | |
X | g.20164960A>C | CA412514126 | RPS6KA3 | c.1703T>G (p.Leu568Arg) c.1616T>G (p.Leu539Arg) c.1619T>G (p.Leu540Arg) c.1321T>G (n.1321T>G) c.*924T>G (n.*924T>G) n.370T>G c.1700T>G (p.Leu567Arg) c.1613T>G (p.Leu538Arg) c.1721T>G (p.Leu574Arg) c.1718T>G (p.Leu573Arg) c.1637T>G (p.Leu546Arg) c.1634T>G (p.Leu545Arg) | |
X | g.20164960A>G | CA412514127 | RPS6KA3 | c.1703T>C (p.Leu568Pro) c.1616T>C (p.Leu539Pro) c.1619T>C (p.Leu540Pro) c.1321T>C (n.1321T>C) c.*924T>C (n.*924T>C) n.370T>C c.1700T>C (p.Leu567Pro) c.1613T>C (p.Leu538Pro) c.1721T>C (p.Leu574Pro) c.1718T>C (p.Leu573Pro) c.1637T>C (p.Leu546Pro) c.1634T>C (p.Leu545Pro) | |
X | g.20164960A>T | CA412514128 | RPS6KA3 | c.1703T>A (p.Leu568Gln) c.1616T>A (p.Leu539Gln) c.1619T>A (p.Leu540Gln) c.1321T>A (n.1321T>A) c.*924T>A (n.*924T>A) n.370T>A c.1700T>A (p.Leu567Gln) c.1613T>A (p.Leu538Gln) c.1721T>A (p.Leu574Gln) c.1718T>A (p.Leu573Gln) c.1637T>A (p.Leu546Gln) c.1634T>A (p.Leu545Gln) | COSMIC |
X | g.20164961G>A | CA515613752 | RPS6KA3 | c.1702C>T (p.Leu568=) c.1615C>T (p.Leu539=) c.1618C>T (p.Leu540=) c.1320C>T (n.1320C>T) c.*923C>T (n.*923C>T) n.369C>T c.1699C>T (p.Leu567=) c.1612C>T (p.Leu538=) c.1720C>T (p.Leu574=) c.1717C>T (p.Leu573=) c.1636C>T (p.Leu546=) c.1633C>T (p.Leu545=) | |
X | g.20164961G>C | CA412514130 | RPS6KA3 | c.1702C>G (p.Leu568Val) c.1615C>G (p.Leu539Val) c.1618C>G (p.Leu540Val) c.1320C>G (n.1320C>G) c.*923C>G (n.*923C>G) n.369C>G c.1699C>G (p.Leu567Val) c.1612C>G (p.Leu538Val) c.1720C>G (p.Leu574Val) c.1717C>G (p.Leu573Val) c.1636C>G (p.Leu546Val) c.1633C>G (p.Leu545Val) | |
X | g.20164961G>T | CA412514129 | RPS6KA3 | c.1702C>A (p.Leu568Met) c.1615C>A (p.Leu539Met) c.1618C>A (p.Leu540Met) c.1320C>A (n.1320C>A) c.*923C>A (n.*923C>A) n.369C>A c.1699C>A (p.Leu567Met) c.1612C>A (p.Leu538Met) c.1720C>A (p.Leu574Met) c.1717C>A (p.Leu573Met) c.1636C>A (p.Leu546Met) c.1633C>A (p.Leu545Met) | |
X | g.20164962C>A | CA412514131 | RPS6KA3 | c.1701G>T (p.Gln567His) c.1614G>T (p.Gln538His) c.1617G>T (p.Gln539His) c.1319G>T (n.1319G>T) c.*922G>T (n.*922G>T) n.369-1G>T c.1698G>T (p.Gln566His) c.1611G>T (p.Gln537His) c.1719G>T (p.Gln573His) c.1716G>T (p.Gln572His) c.1635G>T (p.Gln545His) c.1632G>T (p.Gln544His) | |
X | g.20164962C>G | CA412514132 | RPS6KA3 | c.1701G>C (p.Gln567His) c.1614G>C (p.Gln538His) c.1617G>C (p.Gln539His) c.1319G>C (n.1319G>C) c.*922G>C (n.*922G>C) n.369-1G>C c.1698G>C (p.Gln566His) c.1611G>C (p.Gln537His) c.1719G>C (p.Gln573His) c.1716G>C (p.Gln572His) c.1635G>C (p.Gln545His) c.1632G>C (p.Gln544His) | |
X | g.20164962C>T | CA515613753 | RPS6KA3 | c.1701G>A (p.Gln567=) c.1614G>A (p.Gln538=) c.1617G>A (p.Gln539=) c.1319G>A (n.1319G>A) c.*922G>A (n.*922G>A) n.369-1G>A c.1698G>A (p.Gln566=) c.1611G>A (p.Gln537=) c.1719G>A (p.Gln573=) c.1716G>A (p.Gln572=) c.1635G>A (p.Gln545=) c.1632G>A (p.Gln544=) | |
X | g.20164963T>A | CA412514133 | RPS6KA3 | c.1700A>T (p.Gln567Leu) c.1613A>T (p.Gln538Leu) c.1616A>T (p.Gln539Leu) c.1318A>T (n.1318A>T) c.*921A>T (n.*921A>T) n.369-2A>T c.1697A>T (p.Gln566Leu) c.1610A>T (p.Gln537Leu) c.1718A>T (p.Gln573Leu) c.1715A>T (p.Gln572Leu) c.1634A>T (p.Gln545Leu) c.1631A>T (p.Gln544Leu) | |
X | g.20164963T>C | CA412514134 | RPS6KA3 | c.1700A>G (p.Gln567Arg) c.1613A>G (p.Gln538Arg) c.1616A>G (p.Gln539Arg) c.1318A>G (n.1318A>G) c.*921A>G (n.*921A>G) n.369-2A>G c.1697A>G (p.Gln566Arg) c.1610A>G (p.Gln537Arg) c.1718A>G (p.Gln573Arg) c.1715A>G (p.Gln572Arg) c.1634A>G (p.Gln545Arg) c.1631A>G (p.Gln544Arg) | |
X | g.20164963T>G | CA412514135 | RPS6KA3 | c.1700A>C (p.Gln567Pro) c.1613A>C (p.Gln538Pro) c.1616A>C (p.Gln539Pro) c.1318A>C (n.1318A>C) c.*921A>C (n.*921A>C) n.369-2A>C c.1697A>C (p.Gln566Pro) c.1610A>C (p.Gln537Pro) c.1718A>C (p.Gln573Pro) c.1715A>C (p.Gln572Pro) c.1634A>C (p.Gln545Pro) c.1631A>C (p.Gln544Pro) | |
X | g.20164964G>A | CA412514136 | RPS6KA3 | c.1699C>T (p.Gln567Ter) c.1612C>T (p.Gln538Ter) c.1615C>T (p.Gln539Ter) c.1317C>T (n.1317C>T) c.*920C>T (n.*920C>T) n.369-3C>T c.1696C>T (p.Gln566Ter) c.1609C>T (p.Gln537Ter) c.1717C>T (p.Gln573Ter) c.1714C>T (p.Gln572Ter) c.1633C>T (p.Gln545Ter) c.1630C>T (p.Gln544Ter) | ClinVar dbSNP |
X | g.20164964G>C | CA412514137 | RPS6KA3 | c.1699C>G (p.Gln567Glu) c.1612C>G (p.Gln538Glu) c.1615C>G (p.Gln539Glu) c.1317C>G (n.1317C>G) c.*920C>G (n.*920C>G) n.369-3C>G c.1696C>G (p.Gln566Glu) c.1609C>G (p.Gln537Glu) c.1717C>G (p.Gln573Glu) c.1714C>G (p.Gln572Glu) c.1633C>G (p.Gln545Glu) c.1630C>G (p.Gln544Glu) | |
X | g.20164964G= | CA2418505966 | RPS6KA3 | c.1699C= (p.Gln567=) c.1612C= (p.Gln538=) c.1615C= (p.Gln539=) c.1317C= (n.1317C=) c.*920C= (n.*920C=) n.369-3C= c.1696C= (p.Gln566=) c.1609C= (p.Gln537=) c.1717C= (p.Gln573=) c.1714C= (p.Gln572=) c.1633C= (p.Gln545=) c.1630C= (p.Gln544=) | |
X | g.20164964G>T | CA412514138 | RPS6KA3 | c.1699C>A (p.Gln567Lys) c.1612C>A (p.Gln538Lys) c.1615C>A (p.Gln539Lys) c.1317C>A (n.1317C>A) c.*920C>A (n.*920C>A) n.369-3C>A c.1696C>A (p.Gln566Lys) c.1609C>A (p.Gln537Lys) c.1717C>A (p.Gln573Lys) c.1714C>A (p.Gln572Lys) c.1633C>A (p.Gln545Lys) c.1630C>A (p.Gln544Lys) | |
X | g.20164965T>A | CA412514139 | RPS6KA3 | c.1698A>T (p.Lys566Asn) c.1611A>T (p.Lys537Asn) c.1614A>T (p.Lys538Asn) c.1316A>T (n.1316A>T) c.*919A>T (n.*919A>T) n.369-4A>T c.1695A>T (p.Lys565Asn) c.1608A>T (p.Lys536Asn) c.1716A>T (p.Lys572Asn) c.1713A>T (p.Lys571Asn) c.1632A>T (p.Lys544Asn) c.1629A>T (p.Lys543Asn) | |
X | g.20164965T>C | CA515613757 | RPS6KA3 | c.1698A>G (p.Lys566=) c.1611A>G (p.Lys537=) c.1614A>G (p.Lys538=) c.1316A>G (n.1316A>G) c.*919A>G (n.*919A>G) n.369-4A>G c.1695A>G (p.Lys565=) c.1608A>G (p.Lys536=) c.1716A>G (p.Lys572=) c.1713A>G (p.Lys571=) c.1632A>G (p.Lys544=) c.1629A>G (p.Lys543=) | |
X | g.20164965T>G | CA412514140 | RPS6KA3 | c.1698A>C (p.Lys566Asn) c.1611A>C (p.Lys537Asn) c.1614A>C (p.Lys538Asn) c.1316A>C (n.1316A>C) c.*919A>C (n.*919A>C) n.369-4A>C c.1695A>C (p.Lys565Asn) c.1608A>C (p.Lys536Asn) c.1716A>C (p.Lys572Asn) c.1713A>C (p.Lys571Asn) c.1632A>C (p.Lys544Asn) c.1629A>C (p.Lys543Asn) | |
X | g.20164966T>A | CA412514141 | RPS6KA3 | c.1697A>T (p.Lys566Ile) c.1610A>T (p.Lys537Ile) c.1613A>T (p.Lys538Ile) c.1315A>T (n.1315A>T) c.*918A>T (n.*918A>T) n.369-5A>T c.1694A>T (p.Lys565Ile) c.1607A>T (p.Lys536Ile) c.1715A>T (p.Lys572Ile) c.1712A>T (p.Lys571Ile) c.1631A>T (p.Lys544Ile) c.1628A>T (p.Lys543Ile) | |
X | g.20164966T>C | CA412514142 | RPS6KA3 | c.1697A>G (p.Lys566Arg) c.1610A>G (p.Lys537Arg) c.1613A>G (p.Lys538Arg) c.1315A>G (n.1315A>G) c.*918A>G (n.*918A>G) n.369-5A>G c.1694A>G (p.Lys565Arg) c.1607A>G (p.Lys536Arg) c.1715A>G (p.Lys572Arg) c.1712A>G (p.Lys571Arg) c.1631A>G (p.Lys544Arg) c.1628A>G (p.Lys543Arg) | |
X | g.20164966T>G | CA412514143 | RPS6KA3 | c.1697A>C (p.Lys566Thr) c.1610A>C (p.Lys537Thr) c.1613A>C (p.Lys538Thr) c.1315A>C (n.1315A>C) c.*918A>C (n.*918A>C) n.369-5A>C c.1694A>C (p.Lys565Thr) c.1607A>C (p.Lys536Thr) c.1715A>C (p.Lys572Thr) c.1712A>C (p.Lys571Thr) c.1631A>C (p.Lys544Thr) c.1628A>C (p.Lys543Thr) | |
X | g.20164967T>A | CA412514146 | RPS6KA3 | c.1696A>T (p.Lys566Ter) c.1609A>T (p.Lys537Ter) c.1612A>T (p.Lys538Ter) c.1314A>T (n.1314A>T) c.*917A>T (n.*917A>T) n.369-6A>T c.1693A>T (p.Lys565Ter) c.1606A>T (p.Lys536Ter) c.1714A>T (p.Lys572Ter) c.1711A>T (p.Lys571Ter) c.1630A>T (p.Lys544Ter) c.1627A>T (p.Lys543Ter) | |
X | g.20164967T>C | CA412514145 | RPS6KA3 | c.1696A>G (p.Lys566Glu) c.1609A>G (p.Lys537Glu) c.1612A>G (p.Lys538Glu) c.1314A>G (n.1314A>G) c.*917A>G (n.*917A>G) n.369-6A>G c.1693A>G (p.Lys565Glu) c.1606A>G (p.Lys536Glu) c.1714A>G (p.Lys572Glu) c.1711A>G (p.Lys571Glu) c.1630A>G (p.Lys544Glu) c.1627A>G (p.Lys543Glu) | ClinVar |
X | g.20164967T>G | CA412514144 | RPS6KA3 | c.1696A>C (p.Lys566Gln) c.1609A>C (p.Lys537Gln) c.1612A>C (p.Lys538Gln) c.1314A>C (n.1314A>C) c.*917A>C (n.*917A>C) n.369-6A>C c.1693A>C (p.Lys565Gln) c.1606A>C (p.Lys536Gln) c.1714A>C (p.Lys572Gln) c.1711A>C (p.Lys571Gln) c.1630A>C (p.Lys544Gln) c.1627A>C (p.Lys543Gln) | |
X | g.20164968T>A | CA515613760 | RPS6KA3 | c.1695A>T (p.Ala565=) c.1608A>T (p.Ala536=) c.1611A>T (p.Ala537=) c.1313A>T (n.1313A>T) c.*916A>T (n.*916A>T) n.369-7A>T c.1692A>T (p.Ala564=) c.1605A>T (p.Ala535=) c.1713A>T (p.Ala571=) c.1710A>T (p.Ala570=) c.1629A>T (p.Ala543=) c.1626A>T (p.Ala542=) | |
X | g.20164968T>C | CA515613763 | RPS6KA3 | c.1695A>G (p.Ala565=) c.1608A>G (p.Ala536=) c.1611A>G (p.Ala537=) c.1313A>G (n.1313A>G) c.*916A>G (n.*916A>G) n.369-7A>G c.1692A>G (p.Ala564=) c.1605A>G (p.Ala535=) c.1713A>G (p.Ala571=) c.1710A>G (p.Ala570=) c.1629A>G (p.Ala543=) c.1626A>G (p.Ala542=) | |
X | g.20164968T>G | CA515613761 | RPS6KA3 | c.1695A>C (p.Ala565=) c.1608A>C (p.Ala536=) c.1611A>C (p.Ala537=) c.1313A>C (n.1313A>C) c.*916A>C (n.*916A>C) n.369-7A>C c.1692A>C (p.Ala564=) c.1605A>C (p.Ala535=) c.1713A>C (p.Ala571=) c.1710A>C (p.Ala570=) c.1629A>C (p.Ala543=) c.1626A>C (p.Ala542=) | |
X | g.20164969G>A | CA412514147 | RPS6KA3 | c.1694C>T (p.Ala565Val) c.1607C>T (p.Ala536Val) c.1610C>T (p.Ala537Val) c.1312C>T (n.1312C>T) c.*915C>T (n.*915C>T) n.369-8C>T c.1691C>T (p.Ala564Val) c.1604C>T (p.Ala535Val) c.1712C>T (p.Ala571Val) c.1709C>T (p.Ala570Val) c.1628C>T (p.Ala543Val) c.1625C>T (p.Ala542Val) | COSMIC |
X | g.20164969G>C | CA412514148 | RPS6KA3 | c.1694C>G (p.Ala565Gly) c.1607C>G (p.Ala536Gly) c.1610C>G (p.Ala537Gly) c.1312C>G (n.1312C>G) c.*915C>G (n.*915C>G) n.369-8C>G c.1691C>G (p.Ala564Gly) c.1604C>G (p.Ala535Gly) c.1712C>G (p.Ala571Gly) c.1709C>G (p.Ala570Gly) c.1628C>G (p.Ala543Gly) c.1625C>G (p.Ala542Gly) | |
X | g.20164969G>T | CA412514149 | RPS6KA3 | c.1694C>A (p.Ala565Glu) c.1607C>A (p.Ala536Glu) c.1610C>A (p.Ala537Glu) c.1312C>A (n.1312C>A) c.*915C>A (n.*915C>A) n.369-8C>A c.1691C>A (p.Ala564Glu) c.1604C>A (p.Ala535Glu) c.1712C>A (p.Ala571Glu) c.1709C>A (p.Ala570Glu) c.1628C>A (p.Ala543Glu) c.1625C>A (p.Ala542Glu) | |
X | g.20164970C>A | CA412514150 | RPS6KA3 | c.1693G>T (p.Ala565Ser) c.1606G>T (p.Ala536Ser) c.1609G>T (p.Ala537Ser) c.1311G>T (n.1311G>T) c.*914G>T (n.*914G>T) n.369-9G>T c.1690G>T (p.Ala564Ser) c.1603G>T (p.Ala535Ser) c.1711G>T (p.Ala571Ser) c.1708G>T (p.Ala570Ser) c.1627G>T (p.Ala543Ser) c.1624G>T (p.Ala542Ser) | |
X | g.20164970C>G | CA412514151 | RPS6KA3 | c.1693G>C (p.Ala565Pro) c.1606G>C (p.Ala536Pro) c.1609G>C (p.Ala537Pro) c.1311G>C (n.1311G>C) c.*914G>C (n.*914G>C) n.369-9G>C c.1690G>C (p.Ala564Pro) c.1603G>C (p.Ala535Pro) c.1711G>C (p.Ala571Pro) c.1708G>C (p.Ala570Pro) c.1627G>C (p.Ala543Pro) c.1624G>C (p.Ala542Pro) | |
X | g.20164970C>T | CA412514152 | RPS6KA3 | c.1693G>A (p.Ala565Thr) c.1606G>A (p.Ala536Thr) c.1609G>A (p.Ala537Thr) c.1311G>A (n.1311G>A) c.*914G>A (n.*914G>A) n.369-9G>A c.1690G>A (p.Ala564Thr) c.1603G>A (p.Ala535Thr) c.1711G>A (p.Ala571Thr) c.1708G>A (p.Ala570Thr) c.1627G>A (p.Ala543Thr) c.1624G>A (p.Ala542Thr) | |
X | g.20164971A>C | CA412514153 | RPS6KA3 | c.1692T>G (p.Phe564Leu) c.1605T>G (p.Phe535Leu) c.1608T>G (p.Phe536Leu) c.1310T>G (n.1310T>G) c.*913T>G (n.*913T>G) n.369-10T>G c.1689T>G (p.Phe563Leu) c.1602T>G (p.Phe534Leu) c.1710T>G (p.Phe570Leu) c.1707T>G (p.Phe569Leu) c.1626T>G (p.Phe542Leu) c.1623T>G (p.Phe541Leu) | |
X | g.20164971A>G | CA515613764 | RPS6KA3 | c.1692T>C (p.Phe564=) c.1605T>C (p.Phe535=) c.1608T>C (p.Phe536=) c.1310T>C (n.1310T>C) c.*913T>C (n.*913T>C) n.369-10T>C c.1689T>C (p.Phe563=) c.1602T>C (p.Phe534=) c.1710T>C (p.Phe570=) c.1707T>C (p.Phe569=) c.1626T>C (p.Phe542=) c.1623T>C (p.Phe541=) | |
X | g.20164971A>T | CA412514154 | RPS6KA3 | c.1692T>A (p.Phe564Leu) c.1605T>A (p.Phe535Leu) c.1608T>A (p.Phe536Leu) c.1310T>A (n.1310T>A) c.*913T>A (n.*913T>A) n.369-10T>A c.1689T>A (p.Phe563Leu) c.1602T>A (p.Phe534Leu) c.1710T>A (p.Phe570Leu) c.1707T>A (p.Phe569Leu) c.1626T>A (p.Phe542Leu) c.1623T>A (p.Phe541Leu) | |
X | g.20164972A>C | CA412514155 | RPS6KA3 | c.1691T>G (p.Phe564Cys) c.1604T>G (p.Phe535Cys) c.1607T>G (p.Phe536Cys) c.1309T>G (n.1309T>G) c.*912T>G (n.*912T>G) n.369-11T>G c.1688T>G (p.Phe563Cys) c.1601T>G (p.Phe534Cys) c.1709T>G (p.Phe570Cys) c.1706T>G (p.Phe569Cys) c.1625T>G (p.Phe542Cys) c.1622T>G (p.Phe541Cys) | |
X | g.20164972A>G | CA412514156 | RPS6KA3 | c.1691T>C (p.Phe564Ser) c.1604T>C (p.Phe535Ser) c.1607T>C (p.Phe536Ser) c.1309T>C (n.1309T>C) c.*912T>C (n.*912T>C) n.369-11T>C c.1688T>C (p.Phe563Ser) c.1601T>C (p.Phe534Ser) c.1709T>C (p.Phe570Ser) c.1706T>C (p.Phe569Ser) c.1625T>C (p.Phe542Ser) c.1622T>C (p.Phe541Ser) | |
X | g.20164972A>T | CA412514157 | RPS6KA3 | c.1691T>A (p.Phe564Tyr) c.1604T>A (p.Phe535Tyr) c.1607T>A (p.Phe536Tyr) c.1309T>A (n.1309T>A) c.*912T>A (n.*912T>A) n.369-11T>A c.1688T>A (p.Phe563Tyr) c.1601T>A (p.Phe534Tyr) c.1709T>A (p.Phe570Tyr) c.1706T>A (p.Phe569Tyr) c.1625T>A (p.Phe542Tyr) c.1622T>A (p.Phe541Tyr) | |
X | g.20164973A>C | CA412514158 | RPS6KA3 | c.1690T>G (p.Phe564Val) c.1603T>G (p.Phe535Val) c.1606T>G (p.Phe536Val) c.1308T>G (n.1308T>G) c.*911T>G (n.*911T>G) n.369-12T>G c.1687T>G (p.Phe563Val) c.1600T>G (p.Phe534Val) c.1708T>G (p.Phe570Val) c.1705T>G (p.Phe569Val) c.1624T>G (p.Phe542Val) c.1621T>G (p.Phe541Val) | |
X | g.20164973A>G | CA412514159 | RPS6KA3 | c.1690T>C (p.Phe564Leu) c.1603T>C (p.Phe535Leu) c.1606T>C (p.Phe536Leu) c.1308T>C (n.1308T>C) c.*911T>C (n.*911T>C) n.369-12T>C c.1687T>C (p.Phe563Leu) c.1600T>C (p.Phe534Leu) c.1708T>C (p.Phe570Leu) c.1705T>C (p.Phe569Leu) c.1624T>C (p.Phe542Leu) c.1621T>C (p.Phe541Leu) | |
X | g.20164973A>T | CA412514160 | RPS6KA3 | c.1690T>A (p.Phe564Ile) c.1603T>A (p.Phe535Ile) c.1606T>A (p.Phe536Ile) c.1308T>A (n.1308T>A) c.*911T>A (n.*911T>A) n.369-12T>A c.1687T>A (p.Phe563Ile) c.1600T>A (p.Phe534Ile) c.1708T>A (p.Phe570Ile) c.1705T>A (p.Phe569Ile) c.1624T>A (p.Phe542Ile) c.1621T>A (p.Phe541Ile) | |
X | g.20164974G>A | CA515613769 | RPS6KA3 | c.1689C>T (p.Gly563=) c.1602C>T (p.Gly534=) c.1605C>T (p.Gly535=) c.1307C>T (n.1307C>T) c.*910C>T (n.*910C>T) n.369-13C>T c.1686C>T (p.Gly562=) c.1599C>T (p.Gly533=) c.1707C>T (p.Gly569=) c.1704C>T (p.Gly568=) c.1623C>T (p.Gly541=) c.1620C>T (p.Gly540=) | dbSNP gnomAD v4 |
X | g.20164974G>C | CA515613770 | RPS6KA3 | c.1689C>G (p.Gly563=) c.1602C>G (p.Gly534=) c.1605C>G (p.Gly535=) c.1307C>G (n.1307C>G) c.*910C>G (n.*910C>G) n.369-13C>G c.1686C>G (p.Gly562=) c.1599C>G (p.Gly533=) c.1707C>G (p.Gly569=) c.1704C>G (p.Gly568=) c.1623C>G (p.Gly541=) c.1620C>G (p.Gly540=) | |
X | g.20164974G= | CA2418505967 | RPS6KA3 | c.1689C= (p.Gly563=) c.1602C= (p.Gly534=) c.1605C= (p.Gly535=) c.1307C= (n.1307C=) c.*910C= (n.*910C=) n.369-13C= c.1686C= (p.Gly562=) c.1599C= (p.Gly533=) c.1707C= (p.Gly569=) c.1704C= (p.Gly568=) c.1623C= (p.Gly541=) c.1620C= (p.Gly540=) | |
X | g.20164974G>T | CA515613771 | RPS6KA3 | c.1689C>A (p.Gly563=) c.1602C>A (p.Gly534=) c.1605C>A (p.Gly535=) c.1307C>A (n.1307C>A) c.*910C>A (n.*910C>A) n.369-13C>A c.1686C>A (p.Gly562=) c.1599C>A (p.Gly533=) c.1707C>A (p.Gly569=) c.1704C>A (p.Gly568=) c.1623C>A (p.Gly541=) c.1620C>A (p.Gly540=) | gnomAD v4 |
X | g.20164975C>A | CA412514163 | RPS6KA3 | c.1688G>T (p.Gly563Val) c.1601G>T (p.Gly534Val) c.1604G>T (p.Gly535Val) c.1306G>T (n.1306G>T) c.*909G>T (n.*909G>T) n.369-14G>T c.1685G>T (p.Gly562Val) c.1598G>T (p.Gly533Val) c.1706G>T (p.Gly569Val) c.1703G>T (p.Gly568Val) c.1622G>T (p.Gly541Val) c.1619G>T (p.Gly540Val) | |
X | g.20164975C>G | CA412514162 | RPS6KA3 | c.1688G>C (p.Gly563Ala) c.1601G>C (p.Gly534Ala) c.1604G>C (p.Gly535Ala) c.1306G>C (n.1306G>C) c.*909G>C (n.*909G>C) n.369-14G>C c.1685G>C (p.Gly562Ala) c.1598G>C (p.Gly533Ala) c.1706G>C (p.Gly569Ala) c.1703G>C (p.Gly568Ala) c.1622G>C (p.Gly541Ala) c.1619G>C (p.Gly540Ala) | |
X | g.20164975C>T | CA412514161 | RPS6KA3 | c.1688G>A (p.Gly563Asp) c.1601G>A (p.Gly534Asp) c.1604G>A (p.Gly535Asp) c.1306G>A (n.1306G>A) c.*909G>A (n.*909G>A) n.369-14G>A c.1685G>A (p.Gly562Asp) c.1598G>A (p.Gly533Asp) c.1706G>A (p.Gly569Asp) c.1703G>A (p.Gly568Asp) c.1622G>A (p.Gly541Asp) c.1619G>A (p.Gly540Asp) | ClinVar dbSNP |
X | g.20164976C>A | CA412514164 | RPS6KA3 | c.1687G>T (p.Gly563Cys) c.1600G>T (p.Gly534Cys) c.1603G>T (p.Gly535Cys) c.1305G>T (n.1305G>T) c.*908G>T (n.*908G>T) n.369-15G>T c.1684G>T (p.Gly562Cys) c.1597G>T (p.Gly533Cys) c.1705G>T (p.Gly569Cys) c.1702G>T (p.Gly568Cys) c.1621G>T (p.Gly541Cys) c.1618G>T (p.Gly540Cys) | |
X | g.20164976C>G | CA412514165 | RPS6KA3 | c.1687G>C (p.Gly563Arg) c.1600G>C (p.Gly534Arg) c.1603G>C (p.Gly535Arg) c.1305G>C (n.1305G>C) c.*908G>C (n.*908G>C) n.369-15G>C c.1684G>C (p.Gly562Arg) c.1597G>C (p.Gly533Arg) c.1705G>C (p.Gly569Arg) c.1702G>C (p.Gly568Arg) c.1621G>C (p.Gly541Arg) c.1618G>C (p.Gly540Arg) | |
X | g.20164976C>T | CA412514166 | RPS6KA3 | c.1687G>A (p.Gly563Ser) c.1600G>A (p.Gly534Ser) c.1603G>A (p.Gly535Ser) c.1305G>A (n.1305G>A) c.*908G>A (n.*908G>A) n.369-15G>A c.1684G>A (p.Gly562Ser) c.1597G>A (p.Gly533Ser) c.1705G>A (p.Gly569Ser) c.1702G>A (p.Gly568Ser) c.1621G>A (p.Gly541Ser) c.1618G>A (p.Gly540Ser) | COSMIC |
X | g.20164977A>C | CA412514167 | RPS6KA3 | c.1686T>G (p.Phe562Leu) c.1599T>G (p.Phe533Leu) c.1602T>G (p.Phe534Leu) c.1304T>G (n.1304T>G) c.*907T>G (n.*907T>G) n.369-16T>G c.1683T>G (p.Phe561Leu) c.1596T>G (p.Phe532Leu) c.1704T>G (p.Phe568Leu) c.1701T>G (p.Phe567Leu) c.1620T>G (p.Phe540Leu) c.1617T>G (p.Phe539Leu) | |
X | g.20164977A>G | CA515613772 | RPS6KA3 | c.1686T>C (p.Phe562=) c.1599T>C (p.Phe533=) c.1602T>C (p.Phe534=) c.1304T>C (n.1304T>C) c.*907T>C (n.*907T>C) n.369-16T>C c.1683T>C (p.Phe561=) c.1596T>C (p.Phe532=) c.1704T>C (p.Phe568=) c.1701T>C (p.Phe567=) c.1620T>C (p.Phe540=) c.1617T>C (p.Phe539=) | |
X | g.20164977A>T | CA412514168 | RPS6KA3 | c.1686T>A (p.Phe562Leu) c.1599T>A (p.Phe533Leu) c.1602T>A (p.Phe534Leu) c.1304T>A (n.1304T>A) c.*907T>A (n.*907T>A) n.369-16T>A c.1683T>A (p.Phe561Leu) c.1596T>A (p.Phe532Leu) c.1704T>A (p.Phe568Leu) c.1701T>A (p.Phe567Leu) c.1620T>A (p.Phe540Leu) c.1617T>A (p.Phe539Leu) | |
X | g.20164980dup | CA2695196542 | RPS6KA3 | c.1686dup (p.Gly563TrpfsTer?) c.1599dup (p.Gly534TrpfsTer?) c.1602dup (p.Gly535TrpfsTer?) c.1304dup (n.1304dup) c.*907dup (n.*907dup) n.369-16dup c.1683dup (p.Gly562TrpfsTer?) c.1596dup (p.Gly533TrpfsTer?) c.1704dup (p.Gly569TrpfsTer?) c.1701dup (p.Gly568TrpfsTer?) c.1620dup (p.Gly541TrpfsTer?) c.1617dup (p.Gly540TrpfsTer?) | |
X | g.20164978A>C | CA412514169 | RPS6KA3 | c.1685T>G (p.Phe562Cys) c.1598T>G (p.Phe533Cys) c.1601T>G (p.Phe534Cys) c.1303T>G (n.1303T>G) c.*906T>G (n.*906T>G) n.369-17T>G c.1682T>G (p.Phe561Cys) c.1595T>G (p.Phe532Cys) c.1703T>G (p.Phe568Cys) c.1700T>G (p.Phe567Cys) c.1619T>G (p.Phe540Cys) c.1616T>G (p.Phe539Cys) | |
X | g.20164978A>G | CA412514170 | RPS6KA3 | c.1685T>C (p.Phe562Ser) c.1598T>C (p.Phe533Ser) c.1601T>C (p.Phe534Ser) c.1303T>C (n.1303T>C) c.*906T>C (n.*906T>C) n.369-17T>C c.1682T>C (p.Phe561Ser) c.1595T>C (p.Phe532Ser) c.1703T>C (p.Phe568Ser) c.1700T>C (p.Phe567Ser) c.1619T>C (p.Phe540Ser) c.1616T>C (p.Phe539Ser) | |
X | g.20164978A>T | CA412514171 | RPS6KA3 | c.1685T>A (p.Phe562Tyr) c.1598T>A (p.Phe533Tyr) c.1601T>A (p.Phe534Tyr) c.1303T>A (n.1303T>A) c.*906T>A (n.*906T>A) n.369-17T>A c.1682T>A (p.Phe561Tyr) c.1595T>A (p.Phe532Tyr) c.1703T>A (p.Phe568Tyr) c.1700T>A (p.Phe567Tyr) c.1619T>A (p.Phe540Tyr) c.1616T>A (p.Phe539Tyr) | |
X | g.20164979A>C | CA412514172 | RPS6KA3 | c.1684T>G (p.Phe562Val) c.1597T>G (p.Phe533Val) c.1600T>G (p.Phe534Val) c.1302T>G (n.1302T>G) c.*905T>G (n.*905T>G) n.369-18T>G c.1681T>G (p.Phe561Val) c.1594T>G (p.Phe532Val) c.1702T>G (p.Phe568Val) c.1699T>G (p.Phe567Val) c.1618T>G (p.Phe540Val) c.1615T>G (p.Phe539Val) | |
X | g.20164979A>G | CA412514174 | RPS6KA3 | c.1684T>C (p.Phe562Leu) c.1597T>C (p.Phe533Leu) c.1600T>C (p.Phe534Leu) c.1302T>C (n.1302T>C) c.*905T>C (n.*905T>C) n.369-18T>C c.1681T>C (p.Phe561Leu) c.1594T>C (p.Phe532Leu) c.1702T>C (p.Phe568Leu) c.1699T>C (p.Phe567Leu) c.1618T>C (p.Phe540Leu) c.1615T>C (p.Phe539Leu) | |
X | g.20164979A>T | CA412514173 | RPS6KA3 | c.1684T>A (p.Phe562Ile) c.1597T>A (p.Phe533Ile) c.1600T>A (p.Phe534Ile) c.1302T>A (n.1302T>A) c.*905T>A (n.*905T>A) n.369-18T>A c.1681T>A (p.Phe561Ile) c.1594T>A (p.Phe532Ile) c.1702T>A (p.Phe568Ile) c.1699T>A (p.Phe567Ile) c.1618T>A (p.Phe540Ile) c.1615T>A (p.Phe539Ile) | |
X | g.20164980A>C | CA412514175 | RPS6KA3 | c.1683T>G (p.Asp561Glu) c.1596T>G (p.Asp532Glu) c.1599T>G (p.Asp533Glu) c.1301T>G (n.1301T>G) c.*904T>G (n.*904T>G) n.369-19T>G c.1680T>G (p.Asp560Glu) c.1593T>G (p.Asp531Glu) c.1701T>G (p.Asp567Glu) c.1698T>G (p.Asp566Glu) c.1617T>G (p.Asp539Glu) c.1614T>G (p.Asp538Glu) | |
X | g.20164980A>G | CA515613776 | RPS6KA3 | c.1683T>C (p.Asp561=) c.1596T>C (p.Asp532=) c.1599T>C (p.Asp533=) c.1301T>C (n.1301T>C) c.*904T>C (n.*904T>C) n.369-19T>C c.1680T>C (p.Asp560=) c.1593T>C (p.Asp531=) c.1701T>C (p.Asp567=) c.1698T>C (p.Asp566=) c.1617T>C (p.Asp539=) c.1614T>C (p.Asp538=) | |
X | g.20164980A>T | CA412514176 | RPS6KA3 | c.1683T>A (p.Asp561Glu) c.1596T>A (p.Asp532Glu) c.1599T>A (p.Asp533Glu) c.1301T>A (n.1301T>A) c.*904T>A (n.*904T>A) n.369-19T>A c.1680T>A (p.Asp560Glu) c.1593T>A (p.Asp531Glu) c.1701T>A (p.Asp567Glu) c.1698T>A (p.Asp566Glu) c.1617T>A (p.Asp539Glu) c.1614T>A (p.Asp538Glu) | |
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) |