Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.20155413G>A | CA515613272 | RPS6KA3 | c.2208C>T (p.Thr736=) c.2121C>T (p.Thr707=) c.2124C>T (p.Thr708=) c.1826C>T (n.1826C>T) c.*1429C>T (n.*1429C>T) c.2205C>T (p.Thr735=) c.2118C>T (p.Thr706=) c.2209+17C>T (n.2209+17C>T) c.2223C>T (p.Thr741=) c.2142C>T (p.Thr714=) c.2139C>T (p.Thr713=) | |
X | g.20155413G>C | CA515613274 | RPS6KA3 | c.2208C>G (p.Thr736=) c.2121C>G (p.Thr707=) c.2124C>G (p.Thr708=) c.1826C>G (n.1826C>G) c.*1429C>G (n.*1429C>G) c.2205C>G (p.Thr735=) c.2118C>G (p.Thr706=) c.2209+17C>G (n.2209+17C>G) c.2223C>G (p.Thr741=) c.2142C>G (p.Thr714=) c.2139C>G (p.Thr713=) | |
X | g.20155413G>T | CA515613275 | RPS6KA3 | c.2208C>A (p.Thr736=) c.2121C>A (p.Thr707=) c.2124C>A (p.Thr708=) c.1826C>A (n.1826C>A) c.*1429C>A (n.*1429C>A) c.2205C>A (p.Thr735=) c.2118C>A (p.Thr706=) c.2209+17C>A (n.2209+17C>A) c.2223C>A (p.Thr741=) c.2142C>A (p.Thr714=) c.2139C>A (p.Thr713=) | |
X | g.20155414G>A | CA412511651 | RPS6KA3 | c.2207C>T (p.Thr736Ile) c.2120C>T (p.Thr707Ile) c.2123C>T (p.Thr708Ile) c.1825C>T (n.1825C>T) c.*1428C>T (n.*1428C>T) c.2204C>T (p.Thr735Ile) c.2117C>T (p.Thr706Ile) c.2209+16C>T (n.2209+16C>T) c.2222C>T (p.Thr741Ile) c.2141C>T (p.Thr714Ile) c.2138C>T (p.Thr713Ile) | |
X | g.20155414G>C | CA412511669 | RPS6KA3 | c.2207C>G (p.Thr736Ser) c.2120C>G (p.Thr707Ser) c.2123C>G (p.Thr708Ser) c.1825C>G (n.1825C>G) c.*1428C>G (n.*1428C>G) c.2204C>G (p.Thr735Ser) c.2117C>G (p.Thr706Ser) c.2209+16C>G (n.2209+16C>G) c.2222C>G (p.Thr741Ser) c.2141C>G (p.Thr714Ser) c.2138C>G (p.Thr713Ser) | |
X | g.20155414G>T | CA412511672 | RPS6KA3 | c.2207C>A (p.Thr736Asn) c.2120C>A (p.Thr707Asn) c.2123C>A (p.Thr708Asn) c.1825C>A (n.1825C>A) c.*1428C>A (n.*1428C>A) c.2204C>A (p.Thr735Asn) c.2117C>A (p.Thr706Asn) c.2209+16C>A (n.2209+16C>A) c.2222C>A (p.Thr741Asn) c.2141C>A (p.Thr714Asn) c.2138C>A (p.Thr713Asn) | |
X | g.20155415T>A | CA412511675 | RPS6KA3 | c.2206A>T (p.Thr736Ser) c.2119A>T (p.Thr707Ser) c.2122A>T (p.Thr708Ser) c.1824A>T (n.1824A>T) c.*1427A>T (n.*1427A>T) c.2203A>T (p.Thr735Ser) c.2116A>T (p.Thr706Ser) c.2209+15A>T (n.2209+15A>T) c.2221A>T (p.Thr741Ser) c.2140A>T (p.Thr714Ser) c.2137A>T (p.Thr713Ser) | |
X | g.20155415T>C | CA412511678 | RPS6KA3 | c.2206A>G (p.Thr736Ala) c.2119A>G (p.Thr707Ala) c.2122A>G (p.Thr708Ala) c.1824A>G (n.1824A>G) c.*1427A>G (n.*1427A>G) c.2203A>G (p.Thr735Ala) c.2116A>G (p.Thr706Ala) c.2209+15A>G (n.2209+15A>G) c.2221A>G (p.Thr741Ala) c.2140A>G (p.Thr714Ala) c.2137A>G (p.Thr713Ala) | COSMIC |
X | g.20155415T>G | CA412511681 | RPS6KA3 | c.2206A>C (p.Thr736Pro) c.2119A>C (p.Thr707Pro) c.2122A>C (p.Thr708Pro) c.1824A>C (n.1824A>C) c.*1427A>C (n.*1427A>C) c.2203A>C (p.Thr735Pro) c.2116A>C (p.Thr706Pro) c.2209+15A>C (n.2209+15A>C) c.2221A>C (p.Thr741Pro) c.2140A>C (p.Thr714Pro) c.2137A>C (p.Thr713Pro) | |
X | g.20155416G>A | CA10366026 | RPS6KA3 | c.2205C>T (p.Ile735=) c.2118C>T (p.Ile706=) c.2121C>T (p.Ile707=) c.1823C>T (n.1823C>T) c.*1426C>T (n.*1426C>T) c.2202C>T (p.Ile734=) c.2115C>T (p.Ile705=) c.2209+14C>T (n.2209+14C>T) c.2220C>T (p.Ile740=) c.2139C>T (p.Ile713=) c.2136C>T (p.Ile712=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20155416G>C | CA412511684 | RPS6KA3 | c.2205C>G (p.Ile735Met) c.2118C>G (p.Ile706Met) c.2121C>G (p.Ile707Met) c.1823C>G (n.1823C>G) c.*1426C>G (n.*1426C>G) c.2202C>G (p.Ile734Met) c.2115C>G (p.Ile705Met) c.2209+14C>G (n.2209+14C>G) c.2220C>G (p.Ile740Met) c.2139C>G (p.Ile713Met) c.2136C>G (p.Ile712Met) | |
X | g.20155416G= | CA2418502954 | RPS6KA3 | c.2205C= (p.Ile735=) c.2118C= (p.Ile706=) c.2121C= (p.Ile707=) c.1823C= (n.1823C=) c.*1426C= (n.*1426C=) c.2202C= (p.Ile734=) c.2115C= (p.Ile705=) c.2209+14C= (n.2209+14C=) c.2220C= (p.Ile740=) c.2139C= (p.Ile713=) c.2136C= (p.Ile712=) | |
X | g.20155416G>T | CA515613276 | RPS6KA3 | c.2205C>A (p.Ile735=) c.2118C>A (p.Ile706=) c.2121C>A (p.Ile707=) c.1823C>A (n.1823C>A) c.*1426C>A (n.*1426C>A) c.2202C>A (p.Ile734=) c.2115C>A (p.Ile705=) c.2209+14C>A (n.2209+14C>A) c.2220C>A (p.Ile740=) c.2139C>A (p.Ile713=) c.2136C>A (p.Ile712=) | gnomAD v4 |
X | g.20155416_20155417insT | CA645601232 | RPS6KA3 | c.2204_2205insA (p.Thr736HisfsTer8) c.2117_2118insA (p.Thr707HisfsTer8) c.2120_2121insA (p.Thr708HisfsTer8) c.1822_1823insA (n.1822_1823insA) c.*1425_*1426insA (n.*1425_*1426insA) c.2201_2202insA (p.Thr735HisfsTer8) c.2114_2115insA (p.Thr706HisfsTer8) c.2209+13_2209+14insA (n.2209+13_2209+14insA) c.2219_2220insA (p.Thr741HisfsTer8) c.2138_2139insA (p.Thr714HisfsTer8) c.2135_2136insA (p.Thr713HisfsTer8) | COSMIC |
X | g.20155417A>C | CA412511687 | RPS6KA3 | c.2204T>G (p.Ile735Ser) c.2117T>G (p.Ile706Ser) c.2120T>G (p.Ile707Ser) c.1822T>G (n.1822T>G) c.*1425T>G (n.*1425T>G) c.2201T>G (p.Ile734Ser) c.2114T>G (p.Ile705Ser) c.2209+13T>G (n.2209+13T>G) c.2219T>G (p.Ile740Ser) c.2138T>G (p.Ile713Ser) c.2135T>G (p.Ile712Ser) | |
X | g.20155417A>G | CA412511688 | RPS6KA3 | c.2204T>C (p.Ile735Thr) c.2117T>C (p.Ile706Thr) c.2120T>C (p.Ile707Thr) c.1822T>C (n.1822T>C) c.*1425T>C (n.*1425T>C) c.2201T>C (p.Ile734Thr) c.2114T>C (p.Ile705Thr) c.2209+13T>C (n.2209+13T>C) c.2219T>C (p.Ile740Thr) c.2138T>C (p.Ile713Thr) c.2135T>C (p.Ile712Thr) | |
X | g.20155417A>T | CA412511689 | RPS6KA3 | c.2204T>A (p.Ile735Asn) c.2117T>A (p.Ile706Asn) c.2120T>A (p.Ile707Asn) c.1822T>A (n.1822T>A) c.*1425T>A (n.*1425T>A) c.2201T>A (p.Ile734Asn) c.2114T>A (p.Ile705Asn) c.2209+13T>A (n.2209+13T>A) c.2219T>A (p.Ile740Asn) c.2138T>A (p.Ile713Asn) c.2135T>A (p.Ile712Asn) | ClinVar |
X | g.20155418T>A | CA412511690 | RPS6KA3 | c.2203A>T (p.Ile735Phe) c.2116A>T (p.Ile706Phe) c.2119A>T (p.Ile707Phe) c.1821A>T (n.1821A>T) c.*1424A>T (n.*1424A>T) c.2200A>T (p.Ile734Phe) c.2113A>T (p.Ile705Phe) c.2209+12A>T (n.2209+12A>T) c.2218A>T (p.Ile740Phe) c.2137A>T (p.Ile713Phe) c.2134A>T (p.Ile712Phe) | |
X | g.20155418T>C | CA412511691 | RPS6KA3 | c.2203A>G (p.Ile735Val) c.2116A>G (p.Ile706Val) c.2119A>G (p.Ile707Val) c.1821A>G (n.1821A>G) c.*1424A>G (n.*1424A>G) c.2200A>G (p.Ile734Val) c.2113A>G (p.Ile705Val) c.2209+12A>G (n.2209+12A>G) c.2218A>G (p.Ile740Val) c.2137A>G (p.Ile713Val) c.2134A>G (p.Ile712Val) | |
X | g.20155418T>G | CA412511692 | RPS6KA3 | c.2203A>C (p.Ile735Leu) c.2116A>C (p.Ile706Leu) c.2119A>C (p.Ile707Leu) c.1821A>C (n.1821A>C) c.*1424A>C (n.*1424A>C) c.2200A>C (p.Ile734Leu) c.2113A>C (p.Ile705Leu) c.2209+12A>C (n.2209+12A>C) c.2218A>C (p.Ile740Leu) c.2137A>C (p.Ile713Leu) c.2134A>C (p.Ile712Leu) | |
X | g.20155424dup | CA2580100446 | RPS6KA3 | c.2203dup (p.Ile735AsnfsTer9) c.2116dup (p.Ile706AsnfsTer9) c.2119dup (p.Ile707AsnfsTer9) c.1821dup (n.1821dup) c.*1424dup (n.*1424dup) c.2200dup (p.Ile734AsnfsTer9) c.2113dup (p.Ile705AsnfsTer9) c.2209+12dup (n.2209+12dup) c.2218dup (p.Ile740AsnfsTer9) c.2137dup (p.Ile713AsnfsTer9) c.2134dup (p.Ile712AsnfsTer9) | ClinVar |
X | g.20155424del | CA645601233 | RPS6KA3 | c.2203del (p.Ile735SerfsTer?) c.2116del (p.Ile706SerfsTer?) c.2119del (p.Ile707SerfsTer?) c.1821del (n.1821del) c.*1424del (n.*1424del) c.2200del (p.Ile734SerfsTer?) c.2113del (p.Ile705SerfsTer?) c.2209+12del (n.2209+12del) c.2218del (p.Ile740SerfsTer?) c.2137del (p.Ile713SerfsTer?) c.2134del (p.Ile712SerfsTer?) | gnomAD v4 COSMIC |
X | g.20155422_20155424del | CA2693275703 | RPS6KA3 | c.2201_2203del (p.Lys734del) c.2114_2116del (p.Lys705del) c.2117_2119del (p.Lys706del) c.1819_1821del (n.1819_1821del) c.*1422_*1424del (n.*1422_*1424del) c.2198_2200del (p.Lys733del) c.2111_2113del (p.Lys704del) c.2209+10_2209+12del (n.2209+10_2209+12del) c.2216_2218del (p.Lys739del) c.2135_2137del (p.Lys712del) c.2132_2134del (p.Lys711del) | gnomAD v4 |
X | g.20155419T>A | CA412511693 | RPS6KA3 | c.2202A>T (p.Lys734Asn) c.2115A>T (p.Lys705Asn) c.2118A>T (p.Lys706Asn) c.1820A>T (n.1820A>T) c.*1423A>T (n.*1423A>T) c.2199A>T (p.Lys733Asn) c.2112A>T (p.Lys704Asn) c.2209+11A>T (n.2209+11A>T) c.2217A>T (p.Lys739Asn) c.2136A>T (p.Lys712Asn) c.2133A>T (p.Lys711Asn) | |
X | g.20155419T>C | CA515613278 | RPS6KA3 | c.2202A>G (p.Lys734=) c.2115A>G (p.Lys705=) c.2118A>G (p.Lys706=) c.1820A>G (n.1820A>G) c.*1423A>G (n.*1423A>G) c.2199A>G (p.Lys733=) c.2112A>G (p.Lys704=) c.2209+11A>G (n.2209+11A>G) c.2217A>G (p.Lys739=) c.2136A>G (p.Lys712=) c.2133A>G (p.Lys711=) | |
X | g.20155419T>G | CA412511695 | RPS6KA3 | c.2202A>C (p.Lys734Asn) c.2115A>C (p.Lys705Asn) c.2118A>C (p.Lys706Asn) c.1820A>C (n.1820A>C) c.*1423A>C (n.*1423A>C) c.2199A>C (p.Lys733Asn) c.2112A>C (p.Lys704Asn) c.2209+11A>C (n.2209+11A>C) c.2217A>C (p.Lys739Asn) c.2136A>C (p.Lys712Asn) c.2133A>C (p.Lys711Asn) | |
X | g.20155420T>A | CA412511697 | RPS6KA3 | c.2201A>T (p.Lys734Ile) c.2114A>T (p.Lys705Ile) c.2117A>T (p.Lys706Ile) c.1819A>T (n.1819A>T) c.*1422A>T (n.*1422A>T) c.2198A>T (p.Lys733Ile) c.2111A>T (p.Lys704Ile) c.2209+10A>T (n.2209+10A>T) c.2216A>T (p.Lys739Ile) c.2135A>T (p.Lys712Ile) c.2132A>T (p.Lys711Ile) | |
X | g.20155420T>C | CA412511705 | RPS6KA3 | c.2201A>G (p.Lys734Arg) c.2114A>G (p.Lys705Arg) c.2117A>G (p.Lys706Arg) c.1819A>G (n.1819A>G) c.*1422A>G (n.*1422A>G) c.2198A>G (p.Lys733Arg) c.2111A>G (p.Lys704Arg) c.2209+10A>G (n.2209+10A>G) c.2216A>G (p.Lys739Arg) c.2135A>G (p.Lys712Arg) c.2132A>G (p.Lys711Arg) | |
X | g.20155420T>G | CA412511700 | RPS6KA3 | c.2201A>C (p.Lys734Thr) c.2114A>C (p.Lys705Thr) c.2117A>C (p.Lys706Thr) c.1819A>C (n.1819A>C) c.*1422A>C (n.*1422A>C) c.2198A>C (p.Lys733Thr) c.2111A>C (p.Lys704Thr) c.2209+10A>C (n.2209+10A>C) c.2216A>C (p.Lys739Thr) c.2135A>C (p.Lys712Thr) c.2132A>C (p.Lys711Thr) | |
X | g.20155421T>A | CA412511708 | RPS6KA3 | c.2200A>T (p.Lys734Ter) c.2113A>T (p.Lys705Ter) c.2116A>T (p.Lys706Ter) c.1818A>T (n.1818A>T) c.*1421A>T (n.*1421A>T) c.2197A>T (p.Lys733Ter) c.2110A>T (p.Lys704Ter) c.2209+9A>T (n.2209+9A>T) c.2215A>T (p.Lys739Ter) c.2134A>T (p.Lys712Ter) c.2131A>T (p.Lys711Ter) | |
X | g.20155421T>C | CA412511710 | RPS6KA3 | c.2200A>G (p.Lys734Glu) c.2113A>G (p.Lys705Glu) c.2116A>G (p.Lys706Glu) c.1818A>G (n.1818A>G) c.*1421A>G (n.*1421A>G) c.2197A>G (p.Lys733Glu) c.2110A>G (p.Lys704Glu) c.2209+9A>G (n.2209+9A>G) c.2215A>G (p.Lys739Glu) c.2134A>G (p.Lys712Glu) c.2131A>G (p.Lys711Glu) | |
X | g.20155421T>G | CA412511713 | RPS6KA3 | c.2200A>C (p.Lys734Gln) c.2113A>C (p.Lys705Gln) c.2116A>C (p.Lys706Gln) c.1818A>C (n.1818A>C) c.*1421A>C (n.*1421A>C) c.2197A>C (p.Lys733Gln) c.2110A>C (p.Lys704Gln) c.2209+9A>C (n.2209+9A>C) c.2215A>C (p.Lys739Gln) c.2134A>C (p.Lys712Gln) c.2131A>C (p.Lys711Gln) | |
X | g.20155422T>A | CA412511716 | RPS6KA3 | c.2199A>T (p.Lys733Asn) c.2112A>T (p.Lys704Asn) c.2115A>T (p.Lys705Asn) c.1817A>T (n.1817A>T) c.*1420A>T (n.*1420A>T) c.2196A>T (p.Lys732Asn) c.2109A>T (p.Lys703Asn) c.2209+8A>T (n.2209+8A>T) c.2214A>T (p.Lys738Asn) c.2133A>T (p.Lys711Asn) c.2130A>T (p.Lys710Asn) | |
X | g.20155422T>C | CA515613279 | RPS6KA3 | c.2199A>G (p.Lys733=) c.2112A>G (p.Lys704=) c.2115A>G (p.Lys705=) c.1817A>G (n.1817A>G) c.*1420A>G (n.*1420A>G) c.2196A>G (p.Lys732=) c.2109A>G (p.Lys703=) c.2209+8A>G (n.2209+8A>G) c.2214A>G (p.Lys738=) c.2133A>G (p.Lys711=) c.2130A>G (p.Lys710=) | |
X | g.20155422T>G | CA412511718 | RPS6KA3 | c.2199A>C (p.Lys733Asn) c.2112A>C (p.Lys704Asn) c.2115A>C (p.Lys705Asn) c.1817A>C (n.1817A>C) c.*1420A>C (n.*1420A>C) c.2196A>C (p.Lys732Asn) c.2109A>C (p.Lys703Asn) c.2209+8A>C (n.2209+8A>C) c.2214A>C (p.Lys738Asn) c.2133A>C (p.Lys711Asn) c.2130A>C (p.Lys710Asn) | |
X | g.20155423T>A | CA412511720 | RPS6KA3 | c.2198A>T (p.Lys733Ile) c.2111A>T (p.Lys704Ile) c.2114A>T (p.Lys705Ile) c.1816A>T (n.1816A>T) c.*1419A>T (n.*1419A>T) c.2195A>T (p.Lys732Ile) c.2108A>T (p.Lys703Ile) c.2209+7A>T (n.2209+7A>T) c.2213A>T (p.Lys738Ile) c.2132A>T (p.Lys711Ile) c.2129A>T (p.Lys710Ile) | |
X | g.20155423T>C | CA412511722 | RPS6KA3 | c.2198A>G (p.Lys733Arg) c.2111A>G (p.Lys704Arg) c.2114A>G (p.Lys705Arg) c.1816A>G (n.1816A>G) c.*1419A>G (n.*1419A>G) c.2195A>G (p.Lys732Arg) c.2108A>G (p.Lys703Arg) c.2209+7A>G (n.2209+7A>G) c.2213A>G (p.Lys738Arg) c.2132A>G (p.Lys711Arg) c.2129A>G (p.Lys710Arg) | |
X | g.20155423T>G | CA412511725 | RPS6KA3 | c.2198A>C (p.Lys733Thr) c.2111A>C (p.Lys704Thr) c.2114A>C (p.Lys705Thr) c.1816A>C (n.1816A>C) c.*1419A>C (n.*1419A>C) c.2195A>C (p.Lys732Thr) c.2108A>C (p.Lys703Thr) c.2209+7A>C (n.2209+7A>C) c.2213A>C (p.Lys738Thr) c.2132A>C (p.Lys711Thr) c.2129A>C (p.Lys710Thr) | |
X | g.20155424T>A | CA412511728 | RPS6KA3 | c.2197A>T (p.Lys733Ter) c.2110A>T (p.Lys704Ter) c.2113A>T (p.Lys705Ter) c.1815A>T (n.1815A>T) c.*1418A>T (n.*1418A>T) c.2194A>T (p.Lys732Ter) c.2107A>T (p.Lys703Ter) c.2209+6A>T (n.2209+6A>T) c.2212A>T (p.Lys738Ter) c.2131A>T (p.Lys711Ter) c.2128A>T (p.Lys710Ter) | |
X | g.20155424T>C | CA412511730 | RPS6KA3 | c.2197A>G (p.Lys733Glu) c.2110A>G (p.Lys704Glu) c.2113A>G (p.Lys705Glu) c.1815A>G (n.1815A>G) c.*1418A>G (n.*1418A>G) c.2194A>G (p.Lys732Glu) c.2107A>G (p.Lys703Glu) c.2209+6A>G (n.2209+6A>G) c.2212A>G (p.Lys738Glu) c.2131A>G (p.Lys711Glu) c.2128A>G (p.Lys710Glu) | |
X | g.20155424T>G | CA412511733 | RPS6KA3 | c.2197A>C (p.Lys733Gln) c.2110A>C (p.Lys704Gln) c.2113A>C (p.Lys705Gln) c.1815A>C (n.1815A>C) c.*1418A>C (n.*1418A>C) c.2194A>C (p.Lys732Gln) c.2107A>C (p.Lys703Gln) c.2209+6A>C (n.2209+6A>C) c.2212A>C (p.Lys738Gln) c.2131A>C (p.Lys711Gln) c.2128A>C (p.Lys710Gln) | |
X | g.20155424_20155425delinsTA | CA2418502955 | RPS6KA3 | c.2196_2197delinsTA (p.Ile732=) c.2109_2110delinsTA (p.Ile703=) c.2112_2113delinsTA (p.Ile704=) c.1814_1815delinsTA (n.1814_1815delinsTA) c.*1417_*1418delinsTA (n.*1417_*1418delinsTA) c.2193_2194delinsTA (p.Ile731=) c.2106_2107delinsTA (p.Ile702=) c.2209+5_2209+6delinsTA (n.2209+5_2209+6delinsTA) c.2211_2212delinsTA (p.Ile737=) c.2130_2131delinsTA (p.Ile710=) c.2127_2128delinsTA (p.Ile709=) | |
X | g.20155425A>C | CA412511734 | RPS6KA3 | c.2196T>G (p.Ile732Met) c.2109T>G (p.Ile703Met) c.2112T>G (p.Ile704Met) c.1814T>G (n.1814T>G) c.*1417T>G (n.*1417T>G) c.2193T>G (p.Ile731Met) c.2106T>G (p.Ile702Met) c.2209+5T>G (n.2209+5T>G) c.2211T>G (p.Ile737Met) c.2130T>G (p.Ile710Met) c.2127T>G (p.Ile709Met) | |
X | g.20155425A>G | CA515613280 | RPS6KA3 | c.2196T>C (p.Ile732=) c.2109T>C (p.Ile703=) c.2112T>C (p.Ile704=) c.1814T>C (n.1814T>C) c.*1417T>C (n.*1417T>C) c.2193T>C (p.Ile731=) c.2106T>C (p.Ile702=) c.2209+5T>C (n.2209+5T>C) c.2211T>C (p.Ile737=) c.2130T>C (p.Ile710=) c.2127T>C (p.Ile709=) | |
X | g.20155425A>T | CA515613281 | RPS6KA3 | c.2196T>A (p.Ile732=) c.2109T>A (p.Ile703=) c.2112T>A (p.Ile704=) c.1814T>A (n.1814T>A) c.*1417T>A (n.*1417T>A) c.2193T>A (p.Ile731=) c.2106T>A (p.Ile702=) c.2209+5T>A (n.2209+5T>A) c.2211T>A (p.Ile737=) c.2130T>A (p.Ile710=) c.2127T>A (p.Ile709=) | |
X | g.20155426del | CA915950789 | RPS6KA3 | c.2196del (p.Ile735SerfsTer?) c.2109del (p.Ile706SerfsTer?) c.2112del (p.Ile707SerfsTer?) c.1814del (n.1814del) c.*1417del (n.*1417del) c.2193del (p.Ile734SerfsTer?) c.2106del (p.Ile705SerfsTer?) c.2209+5del (n.2209+5del) c.2211del (p.Ile740SerfsTer?) c.2130del (p.Ile713SerfsTer?) c.2127del (p.Ile712SerfsTer?) | ClinVar dbSNP |
X | g.20155426A>C | CA412511749 | RPS6KA3 | c.2195T>G (p.Ile732Ser) c.2108T>G (p.Ile703Ser) c.2111T>G (p.Ile704Ser) c.1813T>G (n.1813T>G) c.*1416T>G (n.*1416T>G) c.2192T>G (p.Ile731Ser) c.2105T>G (p.Ile702Ser) c.2209+4T>G (n.2209+4T>G) c.2210T>G (p.Ile737Ser) c.2129T>G (p.Ile710Ser) c.2126T>G (p.Ile709Ser) | |
X | g.20155426A>G | CA412511739 | RPS6KA3 | c.2195T>C (p.Ile732Thr) c.2108T>C (p.Ile703Thr) c.2111T>C (p.Ile704Thr) c.1813T>C (n.1813T>C) c.*1416T>C (n.*1416T>C) c.2192T>C (p.Ile731Thr) c.2105T>C (p.Ile702Thr) c.2209+4T>C (n.2209+4T>C) c.2210T>C (p.Ile737Thr) c.2129T>C (p.Ile710Thr) c.2126T>C (p.Ile709Thr) | |
X | g.20155426A>T | CA412511746 | RPS6KA3 | c.2195T>A (p.Ile732Asn) c.2108T>A (p.Ile703Asn) c.2111T>A (p.Ile704Asn) c.1813T>A (n.1813T>A) c.*1416T>A (n.*1416T>A) c.2192T>A (p.Ile731Asn) c.2105T>A (p.Ile702Asn) c.2209+4T>A (n.2209+4T>A) c.2210T>A (p.Ile737Asn) c.2129T>A (p.Ile710Asn) c.2126T>A (p.Ile709Asn) | |
X | g.20155427T>A | CA412511756 | RPS6KA3 | c.2194A>T (p.Ile732Phe) c.2107A>T (p.Ile703Phe) c.2110A>T (p.Ile704Phe) c.1812A>T (n.1812A>T) c.*1415A>T (n.*1415A>T) c.2191A>T (p.Ile731Phe) c.2104A>T (p.Ile702Phe) c.2209+3A>T (n.2209+3A>T) c.2209A>T (p.Ile737Phe) c.2128A>T (p.Ile710Phe) c.2125A>T (p.Ile709Phe) | |
X | g.20155427T>C | CA412511759 | RPS6KA3 | c.2194A>G (p.Ile732Val) c.2107A>G (p.Ile703Val) c.2110A>G (p.Ile704Val) c.1812A>G (n.1812A>G) c.*1415A>G (n.*1415A>G) c.2191A>G (p.Ile731Val) c.2104A>G (p.Ile702Val) c.2209+3A>G (n.2209+3A>G) c.2209A>G (p.Ile737Val) c.2128A>G (p.Ile710Val) c.2125A>G (p.Ile709Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20155427T>G | CA412511763 | RPS6KA3 | c.2194A>C (p.Ile732Leu) c.2107A>C (p.Ile703Leu) c.2110A>C (p.Ile704Leu) c.1812A>C (n.1812A>C) c.*1415A>C (n.*1415A>C) c.2191A>C (p.Ile731Leu) c.2104A>C (p.Ile702Leu) c.2209+3A>C (n.2209+3A>C) c.2209A>C (p.Ile737Leu) c.2128A>C (p.Ile710Leu) c.2125A>C (p.Ile709Leu) | |
X | g.20155427T= | CA2418502956 | RPS6KA3 | c.2194A= (p.Ile732=) c.2107A= (p.Ile703=) c.2110A= (p.Ile704=) c.1812A= (n.1812A=) c.*1415A= (n.*1415A=) c.2191A= (p.Ile731=) c.2104A= (p.Ile702=) c.2209+3A= (n.2209+3A=) c.2209A= (p.Ile737=) c.2128A= (p.Ile710=) c.2125A= (p.Ile709=) | |
X | g.20155428A= | CA2418502957 | RPS6KA3 | c.2193T= (p.Gly731=) c.2106T= (p.Gly702=) c.2109T= (p.Gly703=) c.1811T= (n.1811T=) c.*1414T= (n.*1414T=) c.2190T= (p.Gly730=) c.2103T= (p.Gly701=) c.2209+2T= (n.2209+2T=) c.2208T= (p.Gly736=) c.2127T= (p.Gly709=) c.2124T= (p.Gly708=) | |
X | g.20155428A>C | CA515613282 | RPS6KA3 | c.2193T>G (p.Gly731=) c.2106T>G (p.Gly702=) c.2109T>G (p.Gly703=) c.1811T>G (n.1811T>G) c.*1414T>G (n.*1414T>G) c.2190T>G (p.Gly730=) c.2103T>G (p.Gly701=) c.2209+2T>G (n.2209+2T>G) c.2208T>G (p.Gly736=) c.2127T>G (p.Gly709=) c.2124T>G (p.Gly708=) | |
X | g.20155428A>G | CA515613283 | RPS6KA3 | c.2193T>C (p.Gly731=) c.2106T>C (p.Gly702=) c.2109T>C (p.Gly703=) c.1811T>C (n.1811T>C) c.*1414T>C (n.*1414T>C) c.2190T>C (p.Gly730=) c.2103T>C (p.Gly701=) c.2209+2T>C (n.2209+2T>C) c.2208T>C (p.Gly736=) c.2127T>C (p.Gly709=) c.2124T>C (p.Gly708=) | ClinVar dbSNP |
X | g.20155428A>T | CA515613284 | RPS6KA3 | c.2193T>A (p.Gly731=) c.2106T>A (p.Gly702=) c.2109T>A (p.Gly703=) c.1811T>A (n.1811T>A) c.*1414T>A (n.*1414T>A) c.2190T>A (p.Gly730=) c.2103T>A (p.Gly701=) c.2209+2T>A (n.2209+2T>A) c.2208T>A (p.Gly736=) c.2127T>A (p.Gly709=) c.2124T>A (p.Gly708=) | |
X | g.20155429C>A | CA412511767 | RPS6KA3 | c.2192G>T (p.Gly731Val) c.2105G>T (p.Gly702Val) c.2108G>T (p.Gly703Val) c.1810G>T (n.1810G>T) c.*1413G>T (n.*1413G>T) c.2189G>T (p.Gly730Val) c.2102G>T (p.Gly701Val) c.2209+1G>T (n.2209+1G>T) c.2207G>T (p.Gly736Val) c.2126G>T (p.Gly709Val) c.2123G>T (p.Gly708Val) | |
X | g.20155429C>G | CA412511769 | RPS6KA3 | c.2192G>C (p.Gly731Ala) c.2105G>C (p.Gly702Ala) c.2108G>C (p.Gly703Ala) c.1810G>C (n.1810G>C) c.*1413G>C (n.*1413G>C) c.2189G>C (p.Gly730Ala) c.2102G>C (p.Gly701Ala) c.2209+1G>C (n.2209+1G>C) c.2207G>C (p.Gly736Ala) c.2126G>C (p.Gly709Ala) c.2123G>C (p.Gly708Ala) | |
X | g.20155429C>T | CA412511772 | RPS6KA3 | c.2192G>A (p.Gly731Asp) c.2105G>A (p.Gly702Asp) c.2108G>A (p.Gly703Asp) c.1810G>A (n.1810G>A) c.*1413G>A (n.*1413G>A) c.2189G>A (p.Gly730Asp) c.2102G>A (p.Gly701Asp) c.2209+1G>A (n.2209+1G>A) c.2207G>A (p.Gly736Asp) c.2126G>A (p.Gly709Asp) c.2123G>A (p.Gly708Asp) | |
X | g.20155430C>A | CA412511776 | RPS6KA3 | c.2191G>T (p.Gly731Cys) c.2104G>T (p.Gly702Cys) c.2107G>T (p.Gly703Cys) c.1809G>T (n.1809G>T) c.*1412G>T (n.*1412G>T) c.2188G>T (p.Gly730Cys) c.2101G>T (p.Gly701Cys) c.2209G>T (p.Gly737Cys) c.2206G>T (p.Gly736Cys) c.2125G>T (p.Gly709Cys) c.2122G>T (p.Gly708Cys) | |
X | g.20155430C= | CA2418502958 | RPS6KA3 | c.2191G= (p.Gly731=) c.2104G= (p.Gly702=) c.2107G= (p.Gly703=) c.1809G= (n.1809G=) c.*1412G= (n.*1412G=) c.2188G= (p.Gly730=) c.2101G= (p.Gly701=) c.2209G= (p.Gly737=) c.2206G= (p.Gly736=) c.2125G= (p.Gly709=) c.2122G= (p.Gly708=) | |
X | g.20155430C>G | CA412511779 | RPS6KA3 | c.2191G>C (p.Gly731Arg) c.2104G>C (p.Gly702Arg) c.2107G>C (p.Gly703Arg) c.1809G>C (n.1809G>C) c.*1412G>C (n.*1412G>C) c.2188G>C (p.Gly730Arg) c.2101G>C (p.Gly701Arg) c.2209G>C (p.Gly737Arg) c.2206G>C (p.Gly736Arg) c.2125G>C (p.Gly709Arg) c.2122G>C (p.Gly708Arg) | |
X | g.20155430C>T | CA10366027 | RPS6KA3 | c.2191G>A (p.Gly731Ser) c.2104G>A (p.Gly702Ser) c.2107G>A (p.Gly703Ser) c.1809G>A (n.1809G>A) c.*1412G>A (n.*1412G>A) c.2188G>A (p.Gly730Ser) c.2101G>A (p.Gly701Ser) c.2209G>A (p.Gly737Ser) c.2206G>A (p.Gly736Ser) c.2125G>A (p.Gly709Ser) c.2122G>A (p.Gly708Ser) | dbSNP ExAC gnomAD v2 |
X | g.20155431T>A | CA412511784 | RPS6KA3 | c.2190A>T (p.Arg730Ser) c.2103A>T (p.Arg701Ser) c.2106A>T (p.Arg702Ser) c.1808A>T (n.1808A>T) c.*1411A>T (n.*1411A>T) c.2187A>T (p.Arg729Ser) c.2100A>T (p.Arg700Ser) c.2208A>T (p.Arg736Ser) c.2205A>T (p.Arg735Ser) c.2124A>T (p.Arg708Ser) c.2121A>T (p.Arg707Ser) | |
X | g.20155431T>C | CA515613285 | RPS6KA3 | c.2190A>G (p.Arg730=) c.2103A>G (p.Arg701=) c.2106A>G (p.Arg702=) c.1808A>G (n.1808A>G) c.*1411A>G (n.*1411A>G) c.2187A>G (p.Arg729=) c.2100A>G (p.Arg700=) c.2208A>G (p.Arg736=) c.2205A>G (p.Arg735=) c.2124A>G (p.Arg708=) c.2121A>G (p.Arg707=) | |
X | g.20155431T>G | CA412511787 | RPS6KA3 | c.2190A>C (p.Arg730Ser) c.2103A>C (p.Arg701Ser) c.2106A>C (p.Arg702Ser) c.1808A>C (n.1808A>C) c.*1411A>C (n.*1411A>C) c.2187A>C (p.Arg729Ser) c.2100A>C (p.Arg700Ser) c.2208A>C (p.Arg736Ser) c.2205A>C (p.Arg735Ser) c.2124A>C (p.Arg708Ser) c.2121A>C (p.Arg707Ser) | |
X | g.20155432C>A | CA412511794 | RPS6KA3 | c.2189G>T (p.Arg730Ile) c.2102G>T (p.Arg701Ile) c.2105G>T (p.Arg702Ile) c.1807G>T (n.1807G>T) c.*1410G>T (n.*1410G>T) c.2186G>T (p.Arg729Ile) c.2099G>T (p.Arg700Ile) c.2207G>T (p.Arg736Ile) c.2204G>T (p.Arg735Ile) c.2123G>T (p.Arg708Ile) c.2120G>T (p.Arg707Ile) | |
X | g.20155432C>G | CA412511793 | RPS6KA3 | c.2189G>C (p.Arg730Thr) c.2102G>C (p.Arg701Thr) c.2105G>C (p.Arg702Thr) c.1807G>C (n.1807G>C) c.*1410G>C (n.*1410G>C) c.2186G>C (p.Arg729Thr) c.2099G>C (p.Arg700Thr) c.2207G>C (p.Arg736Thr) c.2204G>C (p.Arg735Thr) c.2123G>C (p.Arg708Thr) c.2120G>C (p.Arg707Thr) | |
X | g.20155432C>T | CA412511791 | RPS6KA3 | c.2189G>A (p.Arg730Lys) c.2102G>A (p.Arg701Lys) c.2105G>A (p.Arg702Lys) c.1807G>A (n.1807G>A) c.*1410G>A (n.*1410G>A) c.2186G>A (p.Arg729Lys) c.2099G>A (p.Arg700Lys) c.2207G>A (p.Arg736Lys) c.2204G>A (p.Arg735Lys) c.2123G>A (p.Arg708Lys) c.2120G>A (p.Arg707Lys) | |
X | g.20155433T>A | CA412511799 | RPS6KA3 | c.2188A>T (p.Arg730Ter) c.2101A>T (p.Arg701Ter) c.2104A>T (p.Arg702Ter) c.1806A>T (n.1806A>T) c.*1409A>T (n.*1409A>T) c.2185A>T (p.Arg729Ter) c.2098A>T (p.Arg700Ter) c.2206A>T (p.Arg736Ter) c.2203A>T (p.Arg735Ter) c.2122A>T (p.Arg708Ter) c.2119A>T (p.Arg707Ter) | |
X | g.20155433T>C | CA412511802 | RPS6KA3 | c.2188A>G (p.Arg730Gly) c.2101A>G (p.Arg701Gly) c.2104A>G (p.Arg702Gly) c.1806A>G (n.1806A>G) c.*1409A>G (n.*1409A>G) c.2185A>G (p.Arg729Gly) c.2098A>G (p.Arg700Gly) c.2206A>G (p.Arg736Gly) c.2203A>G (p.Arg735Gly) c.2122A>G (p.Arg708Gly) c.2119A>G (p.Arg707Gly) | |
X | g.20155433T>G | CA515613286 | RPS6KA3 | c.2188A>C (p.Arg730=) c.2101A>C (p.Arg701=) c.2104A>C (p.Arg702=) c.1806A>C (n.1806A>C) c.*1409A>C (n.*1409A>C) c.2185A>C (p.Arg729=) c.2098A>C (p.Arg700=) c.2206A>C (p.Arg736=) c.2203A>C (p.Arg735=) c.2122A>C (p.Arg708=) c.2119A>C (p.Arg707=) | |
X | g.20155434C>A | CA515613287 | RPS6KA3 | c.2187G>T (p.Arg729=) c.2100G>T (p.Arg700=) c.2103G>T (p.Arg701=) c.1805G>T (n.1805G>T) c.*1408G>T (n.*1408G>T) c.2184G>T (p.Arg728=) c.2097G>T (p.Arg699=) c.2205G>T (p.Arg735=) c.2202G>T (p.Arg734=) c.2121G>T (p.Arg707=) c.2118G>T (p.Arg706=) | |
X | g.20155434C>G | CA515613288 | RPS6KA3 | c.2187G>C (p.Arg729=) c.2100G>C (p.Arg700=) c.2103G>C (p.Arg701=) c.1805G>C (n.1805G>C) c.*1408G>C (n.*1408G>C) c.2184G>C (p.Arg728=) c.2097G>C (p.Arg699=) c.2205G>C (p.Arg735=) c.2202G>C (p.Arg734=) c.2121G>C (p.Arg707=) c.2118G>C (p.Arg706=) | dbSNP |
X | g.20155434C>T | CA515613289 | RPS6KA3 | c.2187G>A (p.Arg729=) c.2100G>A (p.Arg700=) c.2103G>A (p.Arg701=) c.1805G>A (n.1805G>A) c.*1408G>A (n.*1408G>A) c.2184G>A (p.Arg728=) c.2097G>A (p.Arg699=) c.2205G>A (p.Arg735=) c.2202G>A (p.Arg734=) c.2121G>A (p.Arg707=) c.2118G>A (p.Arg706=) | |
X | g.20155435C>A | CA412511804 | RPS6KA3 | c.2186G>T (p.Arg729Leu) c.2099G>T (p.Arg700Leu) c.2102G>T (p.Arg701Leu) c.1804G>T (n.1804G>T) c.*1407G>T (n.*1407G>T) c.2183G>T (p.Arg728Leu) c.2096G>T (p.Arg699Leu) c.2204G>T (p.Arg735Leu) c.2201G>T (p.Arg734Leu) c.2120G>T (p.Arg707Leu) c.2117G>T (p.Arg706Leu) | |
X | g.20155435C= | CA2418502959 | RPS6KA3 | c.2186G= (p.Arg729=) c.2099G= (p.Arg700=) c.2102G= (p.Arg701=) c.1804G= (n.1804G=) c.*1407G= (n.*1407G=) c.2183G= (p.Arg728=) c.2096G= (p.Arg699=) c.2204G= (p.Arg735=) c.2201G= (p.Arg734=) c.2120G= (p.Arg707=) c.2117G= (p.Arg706=) | |
X | g.20155435C>G | CA412511807 | RPS6KA3 | c.2186G>C (p.Arg729Pro) c.2099G>C (p.Arg700Pro) c.2102G>C (p.Arg701Pro) c.1804G>C (n.1804G>C) c.*1407G>C (n.*1407G>C) c.2183G>C (p.Arg728Pro) c.2096G>C (p.Arg699Pro) c.2204G>C (p.Arg735Pro) c.2201G>C (p.Arg734Pro) c.2120G>C (p.Arg707Pro) c.2117G>C (p.Arg706Pro) | |
X | g.20155435C>T | CA255962 | RPS6KA3 | c.2186G>A (p.Arg729Gln) c.2099G>A (p.Arg700Gln) c.2102G>A (p.Arg701Gln) c.1804G>A (n.1804G>A) c.*1407G>A (n.*1407G>A) c.2183G>A (p.Arg728Gln) c.2096G>A (p.Arg699Gln) c.2204G>A (p.Arg735Gln) c.2201G>A (p.Arg734Gln) c.2120G>A (p.Arg707Gln) c.2117G>A (p.Arg706Gln) | ClinVar dbSNP |
X | g.20155436G>A | CA412511813 | RPS6KA3 | c.2185C>T (p.Arg729Trp) c.2098C>T (p.Arg700Trp) c.2101C>T (p.Arg701Trp) c.1803C>T (n.1803C>T) c.*1406C>T (n.*1406C>T) c.2182C>T (p.Arg728Trp) c.2095C>T (p.Arg699Trp) c.2203C>T (p.Arg735Trp) c.2200C>T (p.Arg734Trp) c.2119C>T (p.Arg707Trp) c.2116C>T (p.Arg706Trp) | ClinVar dbSNP |
X | g.20155436G>C | CA412511815 | RPS6KA3 | c.2185C>G (p.Arg729Gly) c.2098C>G (p.Arg700Gly) c.2101C>G (p.Arg701Gly) c.1803C>G (n.1803C>G) c.*1406C>G (n.*1406C>G) c.2182C>G (p.Arg728Gly) c.2095C>G (p.Arg699Gly) c.2203C>G (p.Arg735Gly) c.2200C>G (p.Arg734Gly) c.2119C>G (p.Arg707Gly) c.2116C>G (p.Arg706Gly) | |
X | g.20155436G= | CA2418502960 | RPS6KA3 | c.2185C= (p.Arg729=) c.2098C= (p.Arg700=) c.2101C= (p.Arg701=) c.1803C= (n.1803C=) c.*1406C= (n.*1406C=) c.2182C= (p.Arg728=) c.2095C= (p.Arg699=) c.2203C= (p.Arg735=) c.2200C= (p.Arg734=) c.2119C= (p.Arg707=) c.2116C= (p.Arg706=) | |
X | g.20155436G>T | CA515613290 | RPS6KA3 | c.2185C>A (p.Arg729=) c.2098C>A (p.Arg700=) c.2101C>A (p.Arg701=) c.1803C>A (n.1803C>A) c.*1406C>A (n.*1406C>A) c.2182C>A (p.Arg728=) c.2095C>A (p.Arg699=) c.2203C>A (p.Arg735=) c.2200C>A (p.Arg734=) c.2119C>A (p.Arg707=) c.2116C>A (p.Arg706=) | dbSNP gnomAD v4 |
X | g.20155437C>A | CA412511818 | RPS6KA3 | c.2184G>T (p.Gln728His) c.2097G>T (p.Gln699His) c.2100G>T (p.Gln700His) c.1802G>T (n.1802G>T) c.*1405G>T (n.*1405G>T) c.2181G>T (p.Gln727His) c.2094G>T (p.Gln698His) c.2202G>T (p.Gln734His) c.2199G>T (p.Gln733His) c.2118G>T (p.Gln706His) c.2115G>T (p.Gln705His) | |
X | g.20155437C>G | CA412511821 | RPS6KA3 | c.2184G>C (p.Gln728His) c.2097G>C (p.Gln699His) c.2100G>C (p.Gln700His) c.1802G>C (n.1802G>C) c.*1405G>C (n.*1405G>C) c.2181G>C (p.Gln727His) c.2094G>C (p.Gln698His) c.2202G>C (p.Gln734His) c.2199G>C (p.Gln733His) c.2118G>C (p.Gln706His) c.2115G>C (p.Gln705His) | |
X | g.20155437C>T | CA515613291 | RPS6KA3 | c.2184G>A (p.Gln728=) c.2097G>A (p.Gln699=) c.2100G>A (p.Gln700=) c.1802G>A (n.1802G>A) c.*1405G>A (n.*1405G>A) c.2181G>A (p.Gln727=) c.2094G>A (p.Gln698=) c.2202G>A (p.Gln734=) c.2199G>A (p.Gln733=) c.2118G>A (p.Gln706=) c.2115G>A (p.Gln705=) | |
X | g.20155438T>A | CA412511824 | RPS6KA3 | c.2183A>T (p.Gln728Leu) c.2096A>T (p.Gln699Leu) c.2099A>T (p.Gln700Leu) c.1801A>T (n.1801A>T) c.*1404A>T (n.*1404A>T) c.2180A>T (p.Gln727Leu) c.2093A>T (p.Gln698Leu) c.2201A>T (p.Gln734Leu) c.2198A>T (p.Gln733Leu) c.2117A>T (p.Gln706Leu) c.2114A>T (p.Gln705Leu) | |
X | g.20155438T>C | CA412511827 | RPS6KA3 | c.2183A>G (p.Gln728Arg) c.2096A>G (p.Gln699Arg) c.2099A>G (p.Gln700Arg) c.1801A>G (n.1801A>G) c.*1404A>G (n.*1404A>G) c.2180A>G (p.Gln727Arg) c.2093A>G (p.Gln698Arg) c.2201A>G (p.Gln734Arg) c.2198A>G (p.Gln733Arg) c.2117A>G (p.Gln706Arg) c.2114A>G (p.Gln705Arg) | |
X | g.20155438T>G | CA412511830 | RPS6KA3 | c.2183A>C (p.Gln728Pro) c.2096A>C (p.Gln699Pro) c.2099A>C (p.Gln700Pro) c.1801A>C (n.1801A>C) c.*1404A>C (n.*1404A>C) c.2180A>C (p.Gln727Pro) c.2093A>C (p.Gln698Pro) c.2201A>C (p.Gln734Pro) c.2198A>C (p.Gln733Pro) c.2117A>C (p.Gln706Pro) c.2114A>C (p.Gln705Pro) | |
X | g.20155439G>A | CA412511839 | RPS6KA3 | c.2182C>T (p.Gln728Ter) c.2095C>T (p.Gln699Ter) c.2098C>T (p.Gln700Ter) c.1800C>T (n.1800C>T) c.*1403C>T (n.*1403C>T) c.2179C>T (p.Gln727Ter) c.2092C>T (p.Gln698Ter) c.2200C>T (p.Gln734Ter) c.2197C>T (p.Gln733Ter) c.2116C>T (p.Gln706Ter) c.2113C>T (p.Gln705Ter) | |
X | g.20155439G>C | CA412511835 | RPS6KA3 | c.2182C>G (p.Gln728Glu) c.2095C>G (p.Gln699Glu) c.2098C>G (p.Gln700Glu) c.1800C>G (n.1800C>G) c.*1403C>G (n.*1403C>G) c.2179C>G (p.Gln727Glu) c.2092C>G (p.Gln698Glu) c.2200C>G (p.Gln734Glu) c.2197C>G (p.Gln733Glu) c.2116C>G (p.Gln706Glu) c.2113C>G (p.Gln705Glu) | |
X | g.20155439G>T | CA412511833 | RPS6KA3 | c.2182C>A (p.Gln728Lys) c.2095C>A (p.Gln699Lys) c.2098C>A (p.Gln700Lys) c.1800C>A (n.1800C>A) c.*1403C>A (n.*1403C>A) c.2179C>A (p.Gln727Lys) c.2092C>A (p.Gln698Lys) c.2200C>A (p.Gln734Lys) c.2197C>A (p.Gln733Lys) c.2116C>A (p.Gln706Lys) c.2113C>A (p.Gln705Lys) | |
X | g.20155440A= | CA2418502961 | RPS6KA3 | c.2181T= (p.Ala727=) c.2094T= (p.Ala698=) c.2097T= (p.Ala699=) c.1799T= (n.1799T=) c.*1402T= (n.*1402T=) c.2178T= (p.Ala726=) c.2091T= (p.Ala697=) c.2199T= (p.Ala733=) c.2196T= (p.Ala732=) c.2115T= (p.Ala705=) c.2112T= (p.Ala704=) | |
X | g.20155440A>C | CA327473500 | RPS6KA3 | c.2181T>G (p.Ala727=) c.2094T>G (p.Ala698=) c.2097T>G (p.Ala699=) c.1799T>G (n.1799T>G) c.*1402T>G (n.*1402T>G) c.2178T>G (p.Ala726=) c.2091T>G (p.Ala697=) c.2199T>G (p.Ala733=) c.2196T>G (p.Ala732=) c.2115T>G (p.Ala705=) c.2112T>G (p.Ala704=) | dbSNP |
X | g.20155440A>G | CA515613292 | RPS6KA3 | c.2181T>C (p.Ala727=) c.2094T>C (p.Ala698=) c.2097T>C (p.Ala699=) c.1799T>C (n.1799T>C) c.*1402T>C (n.*1402T>C) c.2178T>C (p.Ala726=) c.2091T>C (p.Ala697=) c.2199T>C (p.Ala733=) c.2196T>C (p.Ala732=) c.2115T>C (p.Ala705=) c.2112T>C (p.Ala704=) | |
X | g.20155440A>T | CA515613293 | RPS6KA3 | c.2181T>A (p.Ala727=) c.2094T>A (p.Ala698=) c.2097T>A (p.Ala699=) c.1799T>A (n.1799T>A) c.*1402T>A (n.*1402T>A) c.2178T>A (p.Ala726=) c.2091T>A (p.Ala697=) c.2199T>A (p.Ala733=) c.2196T>A (p.Ala732=) c.2115T>A (p.Ala705=) c.2112T>A (p.Ala704=) | |
X | g.20155441G>A | CA412511843 | RPS6KA3 | c.2180C>T (p.Ala727Val) c.2093C>T (p.Ala698Val) c.2096C>T (p.Ala699Val) c.1798C>T (n.1798C>T) c.*1401C>T (n.*1401C>T) n.847C>T c.2177C>T (p.Ala726Val) c.2090C>T (p.Ala697Val) c.2198C>T (p.Ala733Val) c.2195C>T (p.Ala732Val) c.2114C>T (p.Ala705Val) c.2111C>T (p.Ala704Val) | |
X | g.20155441G>C | CA412511845 | RPS6KA3 | c.2180C>G (p.Ala727Gly) c.2093C>G (p.Ala698Gly) c.2096C>G (p.Ala699Gly) c.1798C>G (n.1798C>G) c.*1401C>G (n.*1401C>G) n.847C>G c.2177C>G (p.Ala726Gly) c.2090C>G (p.Ala697Gly) c.2198C>G (p.Ala733Gly) c.2195C>G (p.Ala732Gly) c.2114C>G (p.Ala705Gly) c.2111C>G (p.Ala704Gly) | |
X | g.20155441G>T | CA412511848 | RPS6KA3 | c.2180C>A (p.Ala727Asp) c.2093C>A (p.Ala698Asp) c.2096C>A (p.Ala699Asp) c.1798C>A (n.1798C>A) c.*1401C>A (n.*1401C>A) n.847C>A c.2177C>A (p.Ala726Asp) c.2090C>A (p.Ala697Asp) c.2198C>A (p.Ala733Asp) c.2195C>A (p.Ala732Asp) c.2114C>A (p.Ala705Asp) c.2111C>A (p.Ala704Asp) | |
X | g.20155442C>A | CA412511851 | RPS6KA3 | c.2179G>T (p.Ala727Ser) c.2092G>T (p.Ala698Ser) c.2095G>T (p.Ala699Ser) c.1797G>T (n.1797G>T) c.*1400G>T (n.*1400G>T) n.846G>T c.2176G>T (p.Ala726Ser) c.2089G>T (p.Ala697Ser) c.2197G>T (p.Ala733Ser) c.2194G>T (p.Ala732Ser) c.2113G>T (p.Ala705Ser) c.2110G>T (p.Ala704Ser) | |
X | g.20155442C>G | CA412511854 | RPS6KA3 | c.2179G>C (p.Ala727Pro) c.2092G>C (p.Ala698Pro) c.2095G>C (p.Ala699Pro) c.1797G>C (n.1797G>C) c.*1400G>C (n.*1400G>C) n.846G>C c.2176G>C (p.Ala726Pro) c.2089G>C (p.Ala697Pro) c.2197G>C (p.Ala733Pro) c.2194G>C (p.Ala732Pro) c.2113G>C (p.Ala705Pro) c.2110G>C (p.Ala704Pro) | |
X | g.20155442C>T | CA412511855 | RPS6KA3 | c.2179G>A (p.Ala727Thr) c.2092G>A (p.Ala698Thr) c.2095G>A (p.Ala699Thr) c.1797G>A (n.1797G>A) c.*1400G>A (n.*1400G>A) n.846G>A c.2176G>A (p.Ala726Thr) c.2089G>A (p.Ala697Thr) c.2197G>A (p.Ala733Thr) c.2194G>A (p.Ala732Thr) c.2113G>A (p.Ala705Thr) c.2110G>A (p.Ala704Thr) | |
X | g.20155443A>C | CA515613294 | RPS6KA3 | c.2178T>G (p.Leu726=) c.2091T>G (p.Leu697=) c.2094T>G (p.Leu698=) c.1796T>G (n.1796T>G) c.*1399T>G (n.*1399T>G) n.845T>G c.2175T>G (p.Leu725=) c.2088T>G (p.Leu696=) c.2196T>G (p.Leu732=) c.2193T>G (p.Leu731=) c.2112T>G (p.Leu704=) c.2109T>G (p.Leu703=) | |
X | g.20155443A>G | CA515613295 | RPS6KA3 | c.2178T>C (p.Leu726=) c.2091T>C (p.Leu697=) c.2094T>C (p.Leu698=) c.1796T>C (n.1796T>C) c.*1399T>C (n.*1399T>C) n.845T>C c.2175T>C (p.Leu725=) c.2088T>C (p.Leu696=) c.2196T>C (p.Leu732=) c.2193T>C (p.Leu731=) c.2112T>C (p.Leu704=) c.2109T>C (p.Leu703=) | |
X | g.20155443A>T | CA515613296 | RPS6KA3 | c.2178T>A (p.Leu726=) c.2091T>A (p.Leu697=) c.2094T>A (p.Leu698=) c.1796T>A (n.1796T>A) c.*1399T>A (n.*1399T>A) n.845T>A c.2175T>A (p.Leu725=) c.2088T>A (p.Leu696=) c.2196T>A (p.Leu732=) c.2193T>A (p.Leu731=) c.2112T>A (p.Leu704=) c.2109T>A (p.Leu703=) | |
X | g.20155444A>C | CA412511858 | RPS6KA3 | c.2177T>G (p.Leu726Arg) c.2090T>G (p.Leu697Arg) c.2093T>G (p.Leu698Arg) c.1795T>G (n.1795T>G) c.*1398T>G (n.*1398T>G) n.844T>G c.2174T>G (p.Leu725Arg) c.2087T>G (p.Leu696Arg) c.2195T>G (p.Leu732Arg) c.2192T>G (p.Leu731Arg) c.2111T>G (p.Leu704Arg) c.2108T>G (p.Leu703Arg) | |
X | g.20155444A>G | CA412511859 | RPS6KA3 | c.2177T>C (p.Leu726Pro) c.2090T>C (p.Leu697Pro) c.2093T>C (p.Leu698Pro) c.1795T>C (n.1795T>C) c.*1398T>C (n.*1398T>C) n.844T>C c.2174T>C (p.Leu725Pro) c.2087T>C (p.Leu696Pro) c.2195T>C (p.Leu732Pro) c.2192T>C (p.Leu731Pro) c.2111T>C (p.Leu704Pro) c.2108T>C (p.Leu703Pro) | |
X | g.20155444A>T | CA412511860 | RPS6KA3 | c.2177T>A (p.Leu726His) c.2090T>A (p.Leu697His) c.2093T>A (p.Leu698His) c.1795T>A (n.1795T>A) c.*1398T>A (n.*1398T>A) n.844T>A c.2174T>A (p.Leu725His) c.2087T>A (p.Leu696His) c.2195T>A (p.Leu732His) c.2192T>A (p.Leu731His) c.2111T>A (p.Leu704His) c.2108T>A (p.Leu703His) | |
X | g.20155445G>A | CA412511861 | RPS6KA3 | c.2176C>T (p.Leu726Phe) c.2089C>T (p.Leu697Phe) c.2092C>T (p.Leu698Phe) c.1794C>T (n.1794C>T) c.*1397C>T (n.*1397C>T) n.843C>T c.2173C>T (p.Leu725Phe) c.2086C>T (p.Leu696Phe) c.2194C>T (p.Leu732Phe) c.2191C>T (p.Leu731Phe) c.2110C>T (p.Leu704Phe) c.2107C>T (p.Leu703Phe) | |
X | g.20155445G>C | CA412511862 | RPS6KA3 | c.2176C>G (p.Leu726Val) c.2089C>G (p.Leu697Val) c.2092C>G (p.Leu698Val) c.1794C>G (n.1794C>G) c.*1397C>G (n.*1397C>G) n.843C>G c.2173C>G (p.Leu725Val) c.2086C>G (p.Leu696Val) c.2194C>G (p.Leu732Val) c.2191C>G (p.Leu731Val) c.2110C>G (p.Leu704Val) c.2107C>G (p.Leu703Val) | |
X | g.20155445G>T | CA412511863 | RPS6KA3 | c.2176C>A (p.Leu726Ile) c.2089C>A (p.Leu697Ile) c.2092C>A (p.Leu698Ile) c.1794C>A (n.1794C>A) c.*1397C>A (n.*1397C>A) n.843C>A c.2173C>A (p.Leu725Ile) c.2086C>A (p.Leu696Ile) c.2194C>A (p.Leu732Ile) c.2191C>A (p.Leu731Ile) c.2110C>A (p.Leu704Ile) c.2107C>A (p.Leu703Ile) | |
X | g.20155446A>C | CA515613299 | RPS6KA3 | c.2175T>G (p.Thr725=) c.2088T>G (p.Thr696=) c.2091T>G (p.Thr697=) c.1793T>G (n.1793T>G) c.*1396T>G (n.*1396T>G) n.842T>G c.2172T>G (p.Thr724=) c.2085T>G (p.Thr695=) c.2193T>G (p.Thr731=) c.2190T>G (p.Thr730=) c.2109T>G (p.Thr703=) c.2106T>G (p.Thr702=) | |
X | g.20155446A>G | CA515613298 | RPS6KA3 | c.2175T>C (p.Thr725=) c.2088T>C (p.Thr696=) c.2091T>C (p.Thr697=) c.1793T>C (n.1793T>C) c.*1396T>C (n.*1396T>C) n.842T>C c.2172T>C (p.Thr724=) c.2085T>C (p.Thr695=) c.2193T>C (p.Thr731=) c.2190T>C (p.Thr730=) c.2109T>C (p.Thr703=) c.2106T>C (p.Thr702=) | |
X | g.20155446A>T | CA515613297 | RPS6KA3 | c.2175T>A (p.Thr725=) c.2088T>A (p.Thr696=) c.2091T>A (p.Thr697=) c.1793T>A (n.1793T>A) c.*1396T>A (n.*1396T>A) n.842T>A c.2172T>A (p.Thr724=) c.2085T>A (p.Thr695=) c.2193T>A (p.Thr731=) c.2190T>A (p.Thr730=) c.2109T>A (p.Thr703=) c.2106T>A (p.Thr702=) | |
X | g.20155447G>A | CA412511878 | RPS6KA3 | c.2174C>T (p.Thr725Ile) c.2087C>T (p.Thr696Ile) c.2090C>T (p.Thr697Ile) c.1792C>T (n.1792C>T) c.*1395C>T (n.*1395C>T) n.841C>T c.2171C>T (p.Thr724Ile) c.2084C>T (p.Thr695Ile) c.2192C>T (p.Thr731Ile) c.2189C>T (p.Thr730Ile) c.2108C>T (p.Thr703Ile) c.2105C>T (p.Thr702Ile) | |
X | g.20155447G>C | CA412511876 | RPS6KA3 | c.2174C>G (p.Thr725Ser) c.2087C>G (p.Thr696Ser) c.2090C>G (p.Thr697Ser) c.1792C>G (n.1792C>G) c.*1395C>G (n.*1395C>G) n.841C>G c.2171C>G (p.Thr724Ser) c.2084C>G (p.Thr695Ser) c.2192C>G (p.Thr731Ser) c.2189C>G (p.Thr730Ser) c.2108C>G (p.Thr703Ser) c.2105C>G (p.Thr702Ser) | |
X | g.20155447G>T | CA412511866 | RPS6KA3 | c.2174C>A (p.Thr725Asn) c.2087C>A (p.Thr696Asn) c.2090C>A (p.Thr697Asn) c.1792C>A (n.1792C>A) c.*1395C>A (n.*1395C>A) n.841C>A c.2171C>A (p.Thr724Asn) c.2084C>A (p.Thr695Asn) c.2192C>A (p.Thr731Asn) c.2189C>A (p.Thr730Asn) c.2108C>A (p.Thr703Asn) c.2105C>A (p.Thr702Asn) | |
X | g.20155448T>A | CA412511881 | RPS6KA3 | c.2173A>T (p.Thr725Ser) c.2086A>T (p.Thr696Ser) c.2089A>T (p.Thr697Ser) c.1791A>T (n.1791A>T) c.*1394A>T (n.*1394A>T) n.840A>T c.2170A>T (p.Thr724Ser) c.2083A>T (p.Thr695Ser) c.2191A>T (p.Thr731Ser) c.2188A>T (p.Thr730Ser) c.2107A>T (p.Thr703Ser) c.2104A>T (p.Thr702Ser) | |
X | g.20155448T>C | CA412511885 | RPS6KA3 | c.2173A>G (p.Thr725Ala) c.2086A>G (p.Thr696Ala) c.2089A>G (p.Thr697Ala) c.1791A>G (n.1791A>G) c.*1394A>G (n.*1394A>G) n.840A>G c.2170A>G (p.Thr724Ala) c.2083A>G (p.Thr695Ala) c.2191A>G (p.Thr731Ala) c.2188A>G (p.Thr730Ala) c.2107A>G (p.Thr703Ala) c.2104A>G (p.Thr702Ala) | gnomAD v4 |
X | g.20155448T>G | CA412511883 | RPS6KA3 | c.2173A>C (p.Thr725Pro) c.2086A>C (p.Thr696Pro) c.2089A>C (p.Thr697Pro) c.1791A>C (n.1791A>C) c.*1394A>C (n.*1394A>C) n.840A>C c.2170A>C (p.Thr724Pro) c.2083A>C (p.Thr695Pro) c.2191A>C (p.Thr731Pro) c.2188A>C (p.Thr730Pro) c.2107A>C (p.Thr703Pro) c.2104A>C (p.Thr702Pro) | |
X | g.20155449A>C | CA515613300 | RPS6KA3 | c.2172T>G (p.Ser724=) c.2085T>G (p.Ser695=) c.2088T>G (p.Ser696=) c.1790T>G (n.1790T>G) c.*1393T>G (n.*1393T>G) n.839T>G c.2169T>G (p.Ser723=) c.2082T>G (p.Ser694=) c.2190T>G (p.Ser730=) c.2187T>G (p.Ser729=) c.2106T>G (p.Ser702=) c.2103T>G (p.Ser701=) | |
X | g.20155449A>G | CA515613301 | RPS6KA3 | c.2172T>C (p.Ser724=) c.2085T>C (p.Ser695=) c.2088T>C (p.Ser696=) c.1790T>C (n.1790T>C) c.*1393T>C (n.*1393T>C) n.839T>C c.2169T>C (p.Ser723=) c.2082T>C (p.Ser694=) c.2190T>C (p.Ser730=) c.2187T>C (p.Ser729=) c.2106T>C (p.Ser702=) c.2103T>C (p.Ser701=) | |
X | g.20155449A>T | CA515613302 | RPS6KA3 | c.2172T>A (p.Ser724=) c.2085T>A (p.Ser695=) c.2088T>A (p.Ser696=) c.1790T>A (n.1790T>A) c.*1393T>A (n.*1393T>A) n.839T>A c.2169T>A (p.Ser723=) c.2082T>A (p.Ser694=) c.2190T>A (p.Ser730=) c.2187T>A (p.Ser729=) c.2106T>A (p.Ser702=) c.2103T>A (p.Ser701=) | |
X | g.20155450G>A | CA412511890 | RPS6KA3 | c.2171C>T (p.Ser724Phe) c.2084C>T (p.Ser695Phe) c.2087C>T (p.Ser696Phe) c.1789C>T (n.1789C>T) c.*1392C>T (n.*1392C>T) n.838C>T c.2168C>T (p.Ser723Phe) c.2081C>T (p.Ser694Phe) c.2189C>T (p.Ser730Phe) c.2186C>T (p.Ser729Phe) c.2105C>T (p.Ser702Phe) c.2102C>T (p.Ser701Phe) | gnomAD v4 |
X | g.20155450G>C | CA412511894 | RPS6KA3 | c.2171C>G (p.Ser724Cys) c.2084C>G (p.Ser695Cys) c.2087C>G (p.Ser696Cys) c.1789C>G (n.1789C>G) c.*1392C>G (n.*1392C>G) n.838C>G c.2168C>G (p.Ser723Cys) c.2081C>G (p.Ser694Cys) c.2189C>G (p.Ser730Cys) c.2186C>G (p.Ser729Cys) c.2105C>G (p.Ser702Cys) c.2102C>G (p.Ser701Cys) | |
X | g.20155450G>T | CA412511892 | RPS6KA3 | c.2171C>A (p.Ser724Tyr) c.2084C>A (p.Ser695Tyr) c.2087C>A (p.Ser696Tyr) c.1789C>A (n.1789C>A) c.*1392C>A (n.*1392C>A) n.838C>A c.2168C>A (p.Ser723Tyr) c.2081C>A (p.Ser694Tyr) c.2189C>A (p.Ser730Tyr) c.2186C>A (p.Ser729Tyr) c.2105C>A (p.Ser702Tyr) c.2102C>A (p.Ser701Tyr) | |
X | g.20155451A>C | CA412511898 | RPS6KA3 | c.2170T>G (p.Ser724Ala) c.2083T>G (p.Ser695Ala) c.2086T>G (p.Ser696Ala) c.1788T>G (n.1788T>G) c.*1391T>G (n.*1391T>G) n.837T>G c.2167T>G (p.Ser723Ala) c.2080T>G (p.Ser694Ala) c.2188T>G (p.Ser730Ala) c.2185T>G (p.Ser729Ala) c.2104T>G (p.Ser702Ala) c.2101T>G (p.Ser701Ala) | |
X | g.20155451A>G | CA412511901 | RPS6KA3 | c.2170T>C (p.Ser724Pro) c.2083T>C (p.Ser695Pro) c.2086T>C (p.Ser696Pro) c.1788T>C (n.1788T>C) c.*1391T>C (n.*1391T>C) n.837T>C c.2167T>C (p.Ser723Pro) c.2080T>C (p.Ser694Pro) c.2188T>C (p.Ser730Pro) c.2185T>C (p.Ser729Pro) c.2104T>C (p.Ser702Pro) c.2101T>C (p.Ser701Pro) | |
X | g.20155451A>T | CA412511903 | RPS6KA3 | c.2170T>A (p.Ser724Thr) c.2083T>A (p.Ser695Thr) c.2086T>A (p.Ser696Thr) c.1788T>A (n.1788T>A) c.*1391T>A (n.*1391T>A) n.837T>A c.2167T>A (p.Ser723Thr) c.2080T>A (p.Ser694Thr) c.2188T>A (p.Ser730Thr) c.2185T>A (p.Ser729Thr) c.2104T>A (p.Ser702Thr) c.2101T>A (p.Ser701Thr) | |
X | g.20155452G>A | CA515613303 | RPS6KA3 | c.2169C>T (p.Arg723=) c.2082C>T (p.Arg694=) c.2085C>T (p.Arg695=) c.1787C>T (n.1787C>T) c.*1390C>T (n.*1390C>T) n.836C>T c.2166C>T (p.Arg722=) c.2079C>T (p.Arg693=) c.2187C>T (p.Arg729=) c.2184C>T (p.Arg728=) c.2103C>T (p.Arg701=) c.2100C>T (p.Arg700=) | |
X | g.20155452G>C | CA515613304 | RPS6KA3 | c.2169C>G (p.Arg723=) c.2082C>G (p.Arg694=) c.2085C>G (p.Arg695=) c.1787C>G (n.1787C>G) c.*1390C>G (n.*1390C>G) n.836C>G c.2166C>G (p.Arg722=) c.2079C>G (p.Arg693=) c.2187C>G (p.Arg729=) c.2184C>G (p.Arg728=) c.2103C>G (p.Arg701=) c.2100C>G (p.Arg700=) | |
X | g.20155452G>T | CA515613305 | RPS6KA3 | c.2169C>A (p.Arg723=) c.2082C>A (p.Arg694=) c.2085C>A (p.Arg695=) c.1787C>A (n.1787C>A) c.*1390C>A (n.*1390C>A) n.836C>A c.2166C>A (p.Arg722=) c.2079C>A (p.Arg693=) c.2187C>A (p.Arg729=) c.2184C>A (p.Arg728=) c.2103C>A (p.Arg701=) c.2100C>A (p.Arg700=) | |
X | g.20155453C>A | CA412511905 | RPS6KA3 | c.2168G>T (p.Arg723Leu) c.2081G>T (p.Arg694Leu) c.2084G>T (p.Arg695Leu) c.1786G>T (n.1786G>T) c.*1389G>T (n.*1389G>T) n.835G>T c.2165G>T (p.Arg722Leu) c.2078G>T (p.Arg693Leu) c.2186G>T (p.Arg729Leu) c.2183G>T (p.Arg728Leu) c.2102G>T (p.Arg701Leu) c.2099G>T (p.Arg700Leu) | |
X | g.20155453C= | CA2418502962 | RPS6KA3 | c.2168G= (p.Arg723=) c.2081G= (p.Arg694=) c.2084G= (p.Arg695=) c.1786G= (n.1786G=) c.*1389G= (n.*1389G=) n.835G= c.2165G= (p.Arg722=) c.2078G= (p.Arg693=) c.2186G= (p.Arg729=) c.2183G= (p.Arg728=) c.2102G= (p.Arg701=) c.2099G= (p.Arg700=) | |
X | g.20155453C>G | CA412511907 | RPS6KA3 | c.2168G>C (p.Arg723Pro) c.2081G>C (p.Arg694Pro) c.2084G>C (p.Arg695Pro) c.1786G>C (n.1786G>C) c.*1389G>C (n.*1389G>C) n.835G>C c.2165G>C (p.Arg722Pro) c.2078G>C (p.Arg693Pro) c.2186G>C (p.Arg729Pro) c.2183G>C (p.Arg728Pro) c.2102G>C (p.Arg701Pro) c.2099G>C (p.Arg700Pro) | |
X | g.20155453C>T | CA207224 | RPS6KA3 | c.2168G>A (p.Arg723His) c.2081G>A (p.Arg694His) c.2084G>A (p.Arg695His) c.1786G>A (n.1786G>A) c.*1389G>A (n.*1389G>A) n.835G>A c.2165G>A (p.Arg722His) c.2078G>A (p.Arg693His) c.2186G>A (p.Arg729His) c.2183G>A (p.Arg728His) c.2102G>A (p.Arg701His) c.2099G>A (p.Arg700His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20155454G>A | CA327473501 | RPS6KA3 | c.2167C>T (p.Arg723Cys) c.2080C>T (p.Arg694Cys) c.2083C>T (p.Arg695Cys) c.1785C>T (n.1785C>T) c.*1388C>T (n.*1388C>T) n.834C>T c.2164C>T (p.Arg722Cys) c.2077C>T (p.Arg693Cys) c.2185C>T (p.Arg729Cys) c.2182C>T (p.Arg728Cys) c.2101C>T (p.Arg701Cys) c.2098C>T (p.Arg700Cys) | ClinVar dbSNP gnomAD v4 |
X | g.20155454G>C | CA412511912 | RPS6KA3 | c.2167C>G (p.Arg723Gly) c.2080C>G (p.Arg694Gly) c.2083C>G (p.Arg695Gly) c.1785C>G (n.1785C>G) c.*1388C>G (n.*1388C>G) n.834C>G c.2164C>G (p.Arg722Gly) c.2077C>G (p.Arg693Gly) c.2185C>G (p.Arg729Gly) c.2182C>G (p.Arg728Gly) c.2101C>G (p.Arg701Gly) c.2098C>G (p.Arg700Gly) | |
X | g.20155454G= | CA2418502963 | RPS6KA3 | c.2167C= (p.Arg723=) c.2080C= (p.Arg694=) c.2083C= (p.Arg695=) c.1785C= (n.1785C=) c.*1388C= (n.*1388C=) n.834C= c.2164C= (p.Arg722=) c.2077C= (p.Arg693=) c.2185C= (p.Arg729=) c.2182C= (p.Arg728=) c.2101C= (p.Arg701=) c.2098C= (p.Arg700=) | |
X | g.20155454G>T | CA412511914 | RPS6KA3 | c.2167C>A (p.Arg723Ser) c.2080C>A (p.Arg694Ser) c.2083C>A (p.Arg695Ser) c.1785C>A (n.1785C>A) c.*1388C>A (n.*1388C>A) n.834C>A c.2164C>A (p.Arg722Ser) c.2077C>A (p.Arg693Ser) c.2185C>A (p.Arg729Ser) c.2182C>A (p.Arg728Ser) c.2101C>A (p.Arg701Ser) c.2098C>A (p.Arg700Ser) | |
X | g.20155455G>A | CA515613306 | RPS6KA3 | c.2166C>T (p.Gly722=) c.2079C>T (p.Gly693=) c.2082C>T (p.Gly694=) c.1784C>T (n.1784C>T) c.*1387C>T (n.*1387C>T) n.833C>T c.2163C>T (p.Gly721=) c.2076C>T (p.Gly692=) c.2184C>T (p.Gly728=) c.2181C>T (p.Gly727=) c.2100C>T (p.Gly700=) c.2097C>T (p.Gly699=) | |
X | g.20155455G>C | CA515613307 | RPS6KA3 | c.2166C>G (p.Gly722=) c.2079C>G (p.Gly693=) c.2082C>G (p.Gly694=) c.1784C>G (n.1784C>G) c.*1387C>G (n.*1387C>G) n.833C>G c.2163C>G (p.Gly721=) c.2076C>G (p.Gly692=) c.2184C>G (p.Gly728=) c.2181C>G (p.Gly727=) c.2100C>G (p.Gly700=) c.2097C>G (p.Gly699=) | |
X | g.20155455G>T | CA515613308 | RPS6KA3 | c.2166C>A (p.Gly722=) c.2079C>A (p.Gly693=) c.2082C>A (p.Gly694=) c.1784C>A (n.1784C>A) c.*1387C>A (n.*1387C>A) n.833C>A c.2163C>A (p.Gly721=) c.2076C>A (p.Gly692=) c.2184C>A (p.Gly728=) c.2181C>A (p.Gly727=) c.2100C>A (p.Gly700=) c.2097C>A (p.Gly699=) | |
X | g.20155456C>A | CA412511917 | RPS6KA3 | c.2165G>T (p.Gly722Val) c.2078G>T (p.Gly693Val) c.2081G>T (p.Gly694Val) c.1783G>T (n.1783G>T) c.*1386G>T (n.*1386G>T) n.832G>T c.2162G>T (p.Gly721Val) c.2075G>T (p.Gly692Val) c.2183G>T (p.Gly728Val) c.2180G>T (p.Gly727Val) c.2099G>T (p.Gly700Val) c.2096G>T (p.Gly699Val) | |
X | g.20155456C>G | CA412511919 | RPS6KA3 | c.2165G>C (p.Gly722Ala) c.2078G>C (p.Gly693Ala) c.2081G>C (p.Gly694Ala) c.1783G>C (n.1783G>C) c.*1386G>C (n.*1386G>C) n.832G>C c.2162G>C (p.Gly721Ala) c.2075G>C (p.Gly692Ala) c.2183G>C (p.Gly728Ala) c.2180G>C (p.Gly727Ala) c.2099G>C (p.Gly700Ala) c.2096G>C (p.Gly699Ala) | |
X | g.20155456C>T | CA412511921 | RPS6KA3 | c.2165G>A (p.Gly722Asp) c.2078G>A (p.Gly693Asp) c.2081G>A (p.Gly694Asp) c.1783G>A (n.1783G>A) c.*1386G>A (n.*1386G>A) n.832G>A c.2162G>A (p.Gly721Asp) c.2075G>A (p.Gly692Asp) c.2183G>A (p.Gly728Asp) c.2180G>A (p.Gly727Asp) c.2099G>A (p.Gly700Asp) c.2096G>A (p.Gly699Asp) | |
X | g.20155457C>A | CA412511923 | RPS6KA3 | c.2164G>T (p.Gly722Cys) c.2077G>T (p.Gly693Cys) c.2080G>T (p.Gly694Cys) c.1782G>T (n.1782G>T) c.*1385G>T (n.*1385G>T) n.831G>T c.2161G>T (p.Gly721Cys) c.2074G>T (p.Gly692Cys) c.2182G>T (p.Gly728Cys) c.2179G>T (p.Gly727Cys) c.2098G>T (p.Gly700Cys) c.2095G>T (p.Gly699Cys) | |
X | g.20155457C>G | CA412511927 | RPS6KA3 | c.2164G>C (p.Gly722Arg) c.2077G>C (p.Gly693Arg) c.2080G>C (p.Gly694Arg) c.1782G>C (n.1782G>C) c.*1385G>C (n.*1385G>C) n.831G>C c.2161G>C (p.Gly721Arg) c.2074G>C (p.Gly692Arg) c.2182G>C (p.Gly728Arg) c.2179G>C (p.Gly727Arg) c.2098G>C (p.Gly700Arg) c.2095G>C (p.Gly699Arg) | |
X | g.20155457C>T | CA412511925 | RPS6KA3 | c.2164G>A (p.Gly722Ser) c.2077G>A (p.Gly693Ser) c.2080G>A (p.Gly694Ser) c.1782G>A (n.1782G>A) c.*1385G>A (n.*1385G>A) n.831G>A c.2161G>A (p.Gly721Ser) c.2074G>A (p.Gly692Ser) c.2182G>A (p.Gly728Ser) c.2179G>A (p.Gly727Ser) c.2098G>A (p.Gly700Ser) c.2095G>A (p.Gly699Ser) | |
X | g.20155458T>A | CA515613309 | RPS6KA3 | c.2163A>T (p.Val721=) c.2076A>T (p.Val692=) c.2079A>T (p.Val693=) c.1781A>T (n.1781A>T) c.*1384A>T (n.*1384A>T) n.830A>T c.2160A>T (p.Val720=) c.2073A>T (p.Val691=) c.2181A>T (p.Val727=) c.2178A>T (p.Val726=) c.2097A>T (p.Val699=) c.2094A>T (p.Val698=) | |
X | g.20155458T>C | CA515613310 | RPS6KA3 | c.2163A>G (p.Val721=) c.2076A>G (p.Val692=) c.2079A>G (p.Val693=) c.1781A>G (n.1781A>G) c.*1384A>G (n.*1384A>G) n.830A>G c.2160A>G (p.Val720=) c.2073A>G (p.Val691=) c.2181A>G (p.Val727=) c.2178A>G (p.Val726=) c.2097A>G (p.Val699=) c.2094A>G (p.Val698=) | |
X | g.20155458T>G | CA515613311 | RPS6KA3 | c.2163A>C (p.Val721=) c.2076A>C (p.Val692=) c.2079A>C (p.Val693=) c.1781A>C (n.1781A>C) c.*1384A>C (n.*1384A>C) n.830A>C c.2160A>C (p.Val720=) c.2073A>C (p.Val691=) c.2181A>C (p.Val727=) c.2178A>C (p.Val726=) c.2097A>C (p.Val699=) c.2094A>C (p.Val698=) | |
X | g.20155458T= | CA2418502964 | RPS6KA3 | c.2163A= (p.Val721=) c.2076A= (p.Val692=) c.2079A= (p.Val693=) c.1781A= (n.1781A=) c.*1384A= (n.*1384A=) n.830A= c.2160A= (p.Val720=) c.2073A= (p.Val691=) c.2181A= (p.Val727=) c.2178A= (p.Val726=) c.2097A= (p.Val699=) c.2094A= (p.Val698=) | |
X | g.20155459A>C | CA412511929 | RPS6KA3 | c.2162T>G (p.Val721Gly) c.2075T>G (p.Val692Gly) c.2078T>G (p.Val693Gly) c.1780T>G (n.1780T>G) c.*1383T>G (n.*1383T>G) n.829T>G c.2159T>G (p.Val720Gly) c.2072T>G (p.Val691Gly) c.2180T>G (p.Val727Gly) c.2177T>G (p.Val726Gly) c.2096T>G (p.Val699Gly) c.2093T>G (p.Val698Gly) | |
X | g.20155459A>G | CA412511931 | RPS6KA3 | c.2162T>C (p.Val721Ala) c.2075T>C (p.Val692Ala) c.2078T>C (p.Val693Ala) c.1780T>C (n.1780T>C) c.*1383T>C (n.*1383T>C) n.829T>C c.2159T>C (p.Val720Ala) c.2072T>C (p.Val691Ala) c.2180T>C (p.Val727Ala) c.2177T>C (p.Val726Ala) c.2096T>C (p.Val699Ala) c.2093T>C (p.Val698Ala) | |
X | g.20155459A>T | CA412511933 | RPS6KA3 | c.2162T>A (p.Val721Glu) c.2075T>A (p.Val692Glu) c.2078T>A (p.Val693Glu) c.1780T>A (n.1780T>A) c.*1383T>A (n.*1383T>A) n.829T>A c.2159T>A (p.Val720Glu) c.2072T>A (p.Val691Glu) c.2180T>A (p.Val727Glu) c.2177T>A (p.Val726Glu) c.2096T>A (p.Val699Glu) c.2093T>A (p.Val698Glu) | |
X | g.20155459dup | CA2418502965 | RPS6KA3 | c.2162dup (p.Gly722ArgfsTer12) c.2075dup (p.Gly693ArgfsTer12) c.2078dup (p.Gly694ArgfsTer12) c.1780dup (n.1780dup) c.*1383dup (n.*1383dup) n.829dup c.2159dup (p.Gly721ArgfsTer12) c.2072dup (p.Gly692ArgfsTer12) c.2180dup (p.Gly728ArgfsTer?) c.2177dup (p.Gly727ArgfsTer12) c.2096dup (p.Gly700ArgfsTer12) c.2093dup (p.Gly699ArgfsTer12) | dbSNP |
X | g.20155460C>A | CA412511934 | RPS6KA3 | c.2161G>T (p.Val721Leu) c.2074G>T (p.Val692Leu) c.2077G>T (p.Val693Leu) c.1779G>T (n.1779G>T) c.*1382G>T (n.*1382G>T) n.828G>T c.2158G>T (p.Val720Leu) c.2071G>T (p.Val691Leu) c.2179G>T (p.Val727Leu) c.2176G>T (p.Val726Leu) c.2095G>T (p.Val699Leu) c.2092G>T (p.Val698Leu) | |
X | g.20155460C>G | CA412511936 | RPS6KA3 | c.2161G>C (p.Val721Leu) c.2074G>C (p.Val692Leu) c.2077G>C (p.Val693Leu) c.1779G>C (n.1779G>C) c.*1382G>C (n.*1382G>C) n.828G>C c.2158G>C (p.Val720Leu) c.2071G>C (p.Val691Leu) c.2179G>C (p.Val727Leu) c.2176G>C (p.Val726Leu) c.2095G>C (p.Val699Leu) c.2092G>C (p.Val698Leu) | |
X | g.20155460C>T | CA412511938 | RPS6KA3 | c.2161G>A (p.Val721Ile) c.2074G>A (p.Val692Ile) c.2077G>A (p.Val693Ile) c.1779G>A (n.1779G>A) c.*1382G>A (n.*1382G>A) n.828G>A c.2158G>A (p.Val720Ile) c.2071G>A (p.Val691Ile) c.2179G>A (p.Val727Ile) c.2176G>A (p.Val726Ile) c.2095G>A (p.Val699Ile) c.2092G>A (p.Val698Ile) | |
X | g.20155461T>A | CA515613312 | RPS6KA3 | c.2160A>T (p.Pro720=) c.2073A>T (p.Pro691=) c.2076A>T (p.Pro692=) c.1778A>T (n.1778A>T) c.*1381A>T (n.*1381A>T) n.827A>T c.2157A>T (p.Pro719=) c.2070A>T (p.Pro690=) c.2178A>T (p.Pro726=) c.2175A>T (p.Pro725=) c.2094A>T (p.Pro698=) c.2091A>T (p.Pro697=) | |
X | g.20155461T>C | CA515613313 | RPS6KA3 | c.2160A>G (p.Pro720=) c.2073A>G (p.Pro691=) c.2076A>G (p.Pro692=) c.1778A>G (n.1778A>G) c.*1381A>G (n.*1381A>G) n.827A>G c.2157A>G (p.Pro719=) c.2070A>G (p.Pro690=) c.2178A>G (p.Pro726=) c.2175A>G (p.Pro725=) c.2094A>G (p.Pro698=) c.2091A>G (p.Pro697=) | |
X | g.20155461T>G | CA515613314 | RPS6KA3 | c.2160A>C (p.Pro720=) c.2073A>C (p.Pro691=) c.2076A>C (p.Pro692=) c.1778A>C (n.1778A>C) c.*1381A>C (n.*1381A>C) n.827A>C c.2157A>C (p.Pro719=) c.2070A>C (p.Pro690=) c.2178A>C (p.Pro726=) c.2175A>C (p.Pro725=) c.2094A>C (p.Pro698=) c.2091A>C (p.Pro697=) | |
X | g.20155462G>A | CA412511941 | RPS6KA3 | c.2159C>T (p.Pro720Leu) c.2072C>T (p.Pro691Leu) c.2075C>T (p.Pro692Leu) c.1777C>T (n.1777C>T) c.*1380C>T (n.*1380C>T) n.826C>T c.2156C>T (p.Pro719Leu) c.2069C>T (p.Pro690Leu) c.2177C>T (p.Pro726Leu) c.2174C>T (p.Pro725Leu) c.2093C>T (p.Pro698Leu) c.2090C>T (p.Pro697Leu) | |
X | g.20155462G>C | CA412511943 | RPS6KA3 | c.2159C>G (p.Pro720Arg) c.2072C>G (p.Pro691Arg) c.2075C>G (p.Pro692Arg) c.1777C>G (n.1777C>G) c.*1380C>G (n.*1380C>G) n.826C>G c.2156C>G (p.Pro719Arg) c.2069C>G (p.Pro690Arg) c.2177C>G (p.Pro726Arg) c.2174C>G (p.Pro725Arg) c.2093C>G (p.Pro698Arg) c.2090C>G (p.Pro697Arg) | |
X | g.20155462G>T | CA412511945 | RPS6KA3 | c.2159C>A (p.Pro720Gln) c.2072C>A (p.Pro691Gln) c.2075C>A (p.Pro692Gln) c.1777C>A (n.1777C>A) c.*1380C>A (n.*1380C>A) n.826C>A c.2156C>A (p.Pro719Gln) c.2069C>A (p.Pro690Gln) c.2177C>A (p.Pro726Gln) c.2174C>A (p.Pro725Gln) c.2093C>A (p.Pro698Gln) c.2090C>A (p.Pro697Gln) | |
X | g.20155463G>A | CA412511952 | RPS6KA3 | c.2158C>T (p.Pro720Ser) c.2071C>T (p.Pro691Ser) c.2074C>T (p.Pro692Ser) c.1776C>T (n.1776C>T) c.*1379C>T (n.*1379C>T) n.825C>T c.2155C>T (p.Pro719Ser) c.2068C>T (p.Pro690Ser) c.2176C>T (p.Pro726Ser) c.2173C>T (p.Pro725Ser) c.2092C>T (p.Pro698Ser) c.2089C>T (p.Pro697Ser) | |
X | g.20155463G>C | CA412511949 | RPS6KA3 | c.2158C>G (p.Pro720Ala) c.2071C>G (p.Pro691Ala) c.2074C>G (p.Pro692Ala) c.1776C>G (n.1776C>G) c.*1379C>G (n.*1379C>G) n.825C>G c.2155C>G (p.Pro719Ala) c.2068C>G (p.Pro690Ala) c.2176C>G (p.Pro726Ala) c.2173C>G (p.Pro725Ala) c.2092C>G (p.Pro698Ala) c.2089C>G (p.Pro697Ala) | |
X | g.20155463G>T | CA412511948 | RPS6KA3 | c.2158C>A (p.Pro720Thr) c.2071C>A (p.Pro691Thr) c.2074C>A (p.Pro692Thr) c.1776C>A (n.1776C>A) c.*1379C>A (n.*1379C>A) n.825C>A c.2155C>A (p.Pro719Thr) c.2068C>A (p.Pro690Thr) c.2176C>A (p.Pro726Thr) c.2173C>A (p.Pro725Thr) c.2092C>A (p.Pro698Thr) c.2089C>A (p.Pro697Thr) | |
X | g.20155464T>A | CA412511954 | RPS6KA3 | c.2157A>T (p.Glu719Asp) c.2070A>T (p.Glu690Asp) c.2073A>T (p.Glu691Asp) c.1775A>T (n.1775A>T) c.*1378A>T (n.*1378A>T) n.824A>T c.2154A>T (p.Glu718Asp) c.2067A>T (p.Glu689Asp) c.2175A>T (p.Glu725Asp) c.2172A>T (p.Glu724Asp) c.2091A>T (p.Glu697Asp) c.2088A>T (p.Glu696Asp) | |
X | g.20155464T>C | CA515613315 | RPS6KA3 | c.2157A>G (p.Glu719=) c.2070A>G (p.Glu690=) c.2073A>G (p.Glu691=) c.1775A>G (n.1775A>G) c.*1378A>G (n.*1378A>G) n.824A>G c.2154A>G (p.Glu718=) c.2067A>G (p.Glu689=) c.2175A>G (p.Glu725=) c.2172A>G (p.Glu724=) c.2091A>G (p.Glu697=) c.2088A>G (p.Glu696=) | gnomAD v4 |
X | g.20155464T>G | CA412511956 | RPS6KA3 | c.2157A>C (p.Glu719Asp) c.2070A>C (p.Glu690Asp) c.2073A>C (p.Glu691Asp) c.1775A>C (n.1775A>C) c.*1378A>C (n.*1378A>C) n.824A>C c.2154A>C (p.Glu718Asp) c.2067A>C (p.Glu689Asp) c.2175A>C (p.Glu725Asp) c.2172A>C (p.Glu724Asp) c.2091A>C (p.Glu697Asp) c.2088A>C (p.Glu696Asp) | |
X | g.20155465T>A | CA412511958 | RPS6KA3 | c.2156A>T (p.Glu719Val) c.2069A>T (p.Glu690Val) c.2072A>T (p.Glu691Val) c.1774A>T (n.1774A>T) c.*1377A>T (n.*1377A>T) n.823A>T c.2153A>T (p.Glu718Val) c.2066A>T (p.Glu689Val) c.2174A>T (p.Glu725Val) c.2171A>T (p.Glu724Val) c.2090A>T (p.Glu697Val) c.2087A>T (p.Glu696Val) | |
X | g.20155465T>C | CA412511960 | RPS6KA3 | c.2156A>G (p.Glu719Gly) c.2069A>G (p.Glu690Gly) c.2072A>G (p.Glu691Gly) c.1774A>G (n.1774A>G) c.*1377A>G (n.*1377A>G) n.823A>G c.2153A>G (p.Glu718Gly) c.2066A>G (p.Glu689Gly) c.2174A>G (p.Glu725Gly) c.2171A>G (p.Glu724Gly) c.2090A>G (p.Glu697Gly) c.2087A>G (p.Glu696Gly) | |
X | g.20155465T>G | CA412511962 | RPS6KA3 | c.2156A>C (p.Glu719Ala) c.2069A>C (p.Glu690Ala) c.2072A>C (p.Glu691Ala) c.1774A>C (n.1774A>C) c.*1377A>C (n.*1377A>C) n.823A>C c.2153A>C (p.Glu718Ala) c.2066A>C (p.Glu689Ala) c.2174A>C (p.Glu725Ala) c.2171A>C (p.Glu724Ala) c.2090A>C (p.Glu697Ala) c.2087A>C (p.Glu696Ala) | |
X | g.20155466C>A | CA412511963 | RPS6KA3 | c.2155G>T (p.Glu719Ter) c.2068G>T (p.Glu690Ter) c.2071G>T (p.Glu691Ter) c.1773G>T (n.1773G>T) c.*1376G>T (n.*1376G>T) n.822G>T c.2152G>T (p.Glu718Ter) c.2065G>T (p.Glu689Ter) c.2173G>T (p.Glu725Ter) c.2170G>T (p.Glu724Ter) c.2089G>T (p.Glu697Ter) c.2086G>T (p.Glu696Ter) | |
X | g.20155466C>G | CA412511965 | RPS6KA3 | c.2155G>C (p.Glu719Gln) c.2068G>C (p.Glu690Gln) c.2071G>C (p.Glu691Gln) c.1773G>C (n.1773G>C) c.*1376G>C (n.*1376G>C) n.822G>C c.2152G>C (p.Glu718Gln) c.2065G>C (p.Glu689Gln) c.2173G>C (p.Glu725Gln) c.2170G>C (p.Glu724Gln) c.2089G>C (p.Glu697Gln) c.2086G>C (p.Glu696Gln) | gnomAD v4 |
X | g.20155466C>T | CA412511966 | RPS6KA3 | c.2155G>A (p.Glu719Lys) c.2068G>A (p.Glu690Lys) c.2071G>A (p.Glu691Lys) c.1773G>A (n.1773G>A) c.*1376G>A (n.*1376G>A) n.822G>A c.2152G>A (p.Glu718Lys) c.2065G>A (p.Glu689Lys) c.2173G>A (p.Glu725Lys) c.2170G>A (p.Glu724Lys) c.2089G>A (p.Glu697Lys) c.2086G>A (p.Glu696Lys) | |
X | g.20155467C>A | CA412511968 | RPS6KA3 | c.2154G>T (p.Leu718Phe) c.2067G>T (p.Leu689Phe) c.2070G>T (p.Leu690Phe) c.1772G>T (n.1772G>T) c.*1375G>T (n.*1375G>T) n.821G>T c.2151G>T (p.Leu717Phe) c.2064G>T (p.Leu688Phe) c.2172G>T (p.Leu724Phe) c.2169G>T (p.Leu723Phe) c.2088G>T (p.Leu696Phe) c.2085G>T (p.Leu695Phe) | |
X | g.20155467C>G | CA412511970 | RPS6KA3 | c.2154G>C (p.Leu718Phe) c.2067G>C (p.Leu689Phe) c.2070G>C (p.Leu690Phe) c.1772G>C (n.1772G>C) c.*1375G>C (n.*1375G>C) n.821G>C c.2151G>C (p.Leu717Phe) c.2064G>C (p.Leu688Phe) c.2172G>C (p.Leu724Phe) c.2169G>C (p.Leu723Phe) c.2088G>C (p.Leu696Phe) c.2085G>C (p.Leu695Phe) | |
X | g.20155467C>T | CA515613316 | RPS6KA3 | c.2154G>A (p.Leu718=) c.2067G>A (p.Leu689=) c.2070G>A (p.Leu690=) c.1772G>A (n.1772G>A) c.*1375G>A (n.*1375G>A) n.821G>A c.2151G>A (p.Leu717=) c.2064G>A (p.Leu688=) c.2172G>A (p.Leu724=) c.2169G>A (p.Leu723=) c.2088G>A (p.Leu696=) c.2085G>A (p.Leu695=) | |
X | g.20155468A>C | CA412511972 | RPS6KA3 | c.2153T>G (p.Leu718Trp) c.2066T>G (p.Leu689Trp) c.2069T>G (p.Leu690Trp) c.1771T>G (n.1771T>G) c.*1374T>G (n.*1374T>G) n.820T>G c.2150T>G (p.Leu717Trp) c.2063T>G (p.Leu688Trp) c.2171T>G (p.Leu724Trp) c.2168T>G (p.Leu723Trp) c.2087T>G (p.Leu696Trp) c.2084T>G (p.Leu695Trp) | |
X | g.20155468A>G | CA412511973 | RPS6KA3 | c.2153T>C (p.Leu718Ser) c.2066T>C (p.Leu689Ser) c.2069T>C (p.Leu690Ser) c.1771T>C (n.1771T>C) c.*1374T>C (n.*1374T>C) n.820T>C c.2150T>C (p.Leu717Ser) c.2063T>C (p.Leu688Ser) c.2171T>C (p.Leu724Ser) c.2168T>C (p.Leu723Ser) c.2087T>C (p.Leu696Ser) c.2084T>C (p.Leu695Ser) | |
X | g.20155468A>T | CA412511975 | RPS6KA3 | c.2153T>A (p.Leu718Ter) c.2066T>A (p.Leu689Ter) c.2069T>A (p.Leu690Ter) c.1771T>A (n.1771T>A) c.*1374T>A (n.*1374T>A) n.820T>A c.2150T>A (p.Leu717Ter) c.2063T>A (p.Leu688Ter) c.2171T>A (p.Leu724Ter) c.2168T>A (p.Leu723Ter) c.2087T>A (p.Leu696Ter) c.2084T>A (p.Leu695Ter) | |
X | g.20155469A>C | CA412511978 | RPS6KA3 | c.2152T>G (p.Leu718Val) c.2065T>G (p.Leu689Val) c.2068T>G (p.Leu690Val) c.1770T>G (n.1770T>G) c.*1373T>G (n.*1373T>G) n.819T>G c.2149T>G (p.Leu717Val) c.2062T>G (p.Leu688Val) c.2170T>G (p.Leu724Val) c.2167T>G (p.Leu723Val) c.2086T>G (p.Leu696Val) c.2083T>G (p.Leu695Val) | |
X | g.20155469A>G | CA515613317 | RPS6KA3 | c.2152T>C (p.Leu718=) c.2065T>C (p.Leu689=) c.2068T>C (p.Leu690=) c.1770T>C (n.1770T>C) c.*1373T>C (n.*1373T>C) n.819T>C c.2149T>C (p.Leu717=) c.2062T>C (p.Leu688=) c.2170T>C (p.Leu724=) c.2167T>C (p.Leu723=) c.2086T>C (p.Leu696=) c.2083T>C (p.Leu695=) | |
X | g.20155469A>T | CA412511979 | RPS6KA3 | c.2152T>A (p.Leu718Met) c.2065T>A (p.Leu689Met) c.2068T>A (p.Leu690Met) c.1770T>A (n.1770T>A) c.*1373T>A (n.*1373T>A) n.819T>A c.2149T>A (p.Leu717Met) c.2062T>A (p.Leu688Met) c.2170T>A (p.Leu724Met) c.2167T>A (p.Leu723Met) c.2086T>A (p.Leu696Met) c.2083T>A (p.Leu695Met) | |
X | g.20155470A>C | CA515613318 | RPS6KA3 | c.2151T>G (p.Val717=) c.2064T>G (p.Val688=) c.2067T>G (p.Val689=) c.1769T>G (n.1769T>G) c.*1372T>G (n.*1372T>G) n.818T>G c.2148T>G (p.Val716=) c.2061T>G (p.Val687=) c.2169T>G (p.Val723=) c.2166T>G (p.Val722=) c.2085T>G (p.Val695=) c.2082T>G (p.Val694=) | |
X | g.20155470A>G | CA515613319 | RPS6KA3 | c.2151T>C (p.Val717=) c.2064T>C (p.Val688=) c.2067T>C (p.Val689=) c.1769T>C (n.1769T>C) c.*1372T>C (n.*1372T>C) n.818T>C c.2148T>C (p.Val716=) c.2061T>C (p.Val687=) c.2169T>C (p.Val723=) c.2166T>C (p.Val722=) c.2085T>C (p.Val695=) c.2082T>C (p.Val694=) | |
X | g.20155470A>T | CA515613320 | RPS6KA3 | c.2151T>A (p.Val717=) c.2064T>A (p.Val688=) c.2067T>A (p.Val689=) c.1769T>A (n.1769T>A) c.*1372T>A (n.*1372T>A) n.818T>A c.2148T>A (p.Val716=) c.2061T>A (p.Val687=) c.2169T>A (p.Val723=) c.2166T>A (p.Val722=) c.2085T>A (p.Val695=) c.2082T>A (p.Val694=) | |
X | g.20155471A>C | CA412511982 | RPS6KA3 | c.2150T>G (p.Val717Gly) c.2063T>G (p.Val688Gly) c.2066T>G (p.Val689Gly) c.1768T>G (n.1768T>G) c.*1371T>G (n.*1371T>G) n.817T>G c.2147T>G (p.Val716Gly) c.2060T>G (p.Val687Gly) c.2168T>G (p.Val723Gly) c.2165T>G (p.Val722Gly) c.2084T>G (p.Val695Gly) c.2081T>G (p.Val694Gly) | |
X | g.20155471A>G | CA412511984 | RPS6KA3 | c.2150T>C (p.Val717Ala) c.2063T>C (p.Val688Ala) c.2066T>C (p.Val689Ala) c.1768T>C (n.1768T>C) c.*1371T>C (n.*1371T>C) n.817T>C c.2147T>C (p.Val716Ala) c.2060T>C (p.Val687Ala) c.2168T>C (p.Val723Ala) c.2165T>C (p.Val722Ala) c.2084T>C (p.Val695Ala) c.2081T>C (p.Val694Ala) | |
X | g.20155471A>T | CA412511985 | RPS6KA3 | c.2150T>A (p.Val717Asp) c.2063T>A (p.Val688Asp) c.2066T>A (p.Val689Asp) c.1768T>A (n.1768T>A) c.*1371T>A (n.*1371T>A) n.817T>A c.2147T>A (p.Val716Asp) c.2060T>A (p.Val687Asp) c.2168T>A (p.Val723Asp) c.2165T>A (p.Val722Asp) c.2084T>A (p.Val695Asp) c.2081T>A (p.Val694Asp) | |
X | g.20155472C>A | CA412511987 | RPS6KA3 | c.2149G>T (p.Val717Phe) c.2062G>T (p.Val688Phe) c.2065G>T (p.Val689Phe) c.1767G>T (n.1767G>T) c.*1370G>T (n.*1370G>T) n.816G>T c.2146G>T (p.Val716Phe) c.2059G>T (p.Val687Phe) c.2167G>T (p.Val723Phe) c.2164G>T (p.Val722Phe) c.2083G>T (p.Val695Phe) c.2080G>T (p.Val694Phe) | |
X | g.20155472C>G | CA412511989 | RPS6KA3 | c.2149G>C (p.Val717Leu) c.2062G>C (p.Val688Leu) c.2065G>C (p.Val689Leu) c.1767G>C (n.1767G>C) c.*1370G>C (n.*1370G>C) n.816G>C c.2146G>C (p.Val716Leu) c.2059G>C (p.Val687Leu) c.2167G>C (p.Val723Leu) c.2164G>C (p.Val722Leu) c.2083G>C (p.Val695Leu) c.2080G>C (p.Val694Leu) | |
X | g.20155472C>T | CA412511991 | RPS6KA3 | c.2149G>A (p.Val717Ile) c.2062G>A (p.Val688Ile) c.2065G>A (p.Val689Ile) c.1767G>A (n.1767G>A) c.*1370G>A (n.*1370G>A) n.816G>A c.2146G>A (p.Val716Ile) c.2059G>A (p.Val687Ile) c.2167G>A (p.Val723Ile) c.2164G>A (p.Val722Ile) c.2083G>A (p.Val695Ile) c.2080G>A (p.Val694Ile) | |
X | g.20155473T>A | CA515613321 | RPS6KA3 | c.2148A>T (p.Pro716=) c.2061A>T (p.Pro687=) c.2064A>T (p.Pro688=) c.1766A>T (n.1766A>T) c.*1369A>T (n.*1369A>T) n.815A>T c.2145A>T (p.Pro715=) c.2058A>T (p.Pro686=) c.2166A>T (p.Pro722=) c.2163A>T (p.Pro721=) c.2082A>T (p.Pro694=) c.2079A>T (p.Pro693=) | |
X | g.20155473T>C | CA515613323 | RPS6KA3 | c.2148A>G (p.Pro716=) c.2061A>G (p.Pro687=) c.2064A>G (p.Pro688=) c.1766A>G (n.1766A>G) c.*1369A>G (n.*1369A>G) n.815A>G c.2145A>G (p.Pro715=) c.2058A>G (p.Pro686=) c.2166A>G (p.Pro722=) c.2163A>G (p.Pro721=) c.2082A>G (p.Pro694=) c.2079A>G (p.Pro693=) | |
X | g.20155473T>G | CA515613322 | RPS6KA3 | c.2148A>C (p.Pro716=) c.2061A>C (p.Pro687=) c.2064A>C (p.Pro688=) c.1766A>C (n.1766A>C) c.*1369A>C (n.*1369A>C) n.815A>C c.2145A>C (p.Pro715=) c.2058A>C (p.Pro686=) c.2166A>C (p.Pro722=) c.2163A>C (p.Pro721=) c.2082A>C (p.Pro694=) c.2079A>C (p.Pro693=) | |
X | g.20155474G>A | CA412511992 | RPS6KA3 | c.2147C>T (p.Pro716Leu) c.2060C>T (p.Pro687Leu) c.2063C>T (p.Pro688Leu) c.1765C>T (n.1765C>T) c.*1368C>T (n.*1368C>T) n.814C>T c.2144C>T (p.Pro715Leu) c.2057C>T (p.Pro686Leu) c.2165C>T (p.Pro722Leu) c.2162C>T (p.Pro721Leu) c.2081C>T (p.Pro694Leu) c.2078C>T (p.Pro693Leu) | |
X | g.20155474G>C | CA412511994 | RPS6KA3 | c.2147C>G (p.Pro716Arg) c.2060C>G (p.Pro687Arg) c.2063C>G (p.Pro688Arg) c.1765C>G (n.1765C>G) c.*1368C>G (n.*1368C>G) n.814C>G c.2144C>G (p.Pro715Arg) c.2057C>G (p.Pro686Arg) c.2165C>G (p.Pro722Arg) c.2162C>G (p.Pro721Arg) c.2081C>G (p.Pro694Arg) c.2078C>G (p.Pro693Arg) | |
X | g.20155474G>T | CA412511996 | RPS6KA3 | c.2147C>A (p.Pro716Gln) c.2060C>A (p.Pro687Gln) c.2063C>A (p.Pro688Gln) c.1765C>A (n.1765C>A) c.*1368C>A (n.*1368C>A) n.814C>A c.2144C>A (p.Pro715Gln) c.2057C>A (p.Pro686Gln) c.2165C>A (p.Pro722Gln) c.2162C>A (p.Pro721Gln) c.2081C>A (p.Pro694Gln) c.2078C>A (p.Pro693Gln) | |
X | g.20155475G>A | CA412511997 | RPS6KA3 | c.2146C>T (p.Pro716Ser) c.2059C>T (p.Pro687Ser) c.2062C>T (p.Pro688Ser) c.1764C>T (n.1764C>T) c.*1367C>T (n.*1367C>T) n.813C>T c.2143C>T (p.Pro715Ser) c.2056C>T (p.Pro686Ser) c.2164C>T (p.Pro722Ser) c.2161C>T (p.Pro721Ser) c.2080C>T (p.Pro694Ser) c.2077C>T (p.Pro693Ser) | |
X | g.20155475G>C | CA412511999 | RPS6KA3 | c.2146C>G (p.Pro716Ala) c.2059C>G (p.Pro687Ala) c.2062C>G (p.Pro688Ala) c.1764C>G (n.1764C>G) c.*1367C>G (n.*1367C>G) n.813C>G c.2143C>G (p.Pro715Ala) c.2056C>G (p.Pro686Ala) c.2164C>G (p.Pro722Ala) c.2161C>G (p.Pro721Ala) c.2080C>G (p.Pro694Ala) c.2077C>G (p.Pro693Ala) | |
X | g.20155475G>T | CA412512001 | RPS6KA3 | c.2146C>A (p.Pro716Thr) c.2059C>A (p.Pro687Thr) c.2062C>A (p.Pro688Thr) c.1764C>A (n.1764C>A) c.*1367C>A (n.*1367C>A) n.813C>A c.2143C>A (p.Pro715Thr) c.2056C>A (p.Pro686Thr) c.2164C>A (p.Pro722Thr) c.2161C>A (p.Pro721Thr) c.2080C>A (p.Pro694Thr) c.2077C>A (p.Pro693Thr) | |
X | g.20155476_20155477del | CA2579569023 | RPS6KA3 | c.2145_2146del (p.Pro716SerfsTer17) c.2058_2059del (p.Pro687SerfsTer17) c.2061_2062del (p.Pro688SerfsTer17) c.1763_1764del (n.1763_1764del) c.*1366_*1367del (n.*1366_*1367del) n.812_813del c.2142_2143del (p.Pro715SerfsTer17) c.2055_2056del (p.Pro686SerfsTer17) c.2163_2164del (p.Pro722SerfsTer?) c.2160_2161del (p.Pro721SerfsTer17) c.2079_2080del (p.Pro694SerfsTer17) c.2076_2077del (p.Pro693SerfsTer17) | |
X | g.20155476T>A | CA515613324 | RPS6KA3 | c.2145A>T (p.Ser715=) c.2058A>T (p.Ser686=) c.2061A>T (p.Ser687=) c.1763A>T (n.1763A>T) c.*1366A>T (n.*1366A>T) n.812A>T c.2142A>T (p.Ser714=) c.2055A>T (p.Ser685=) c.2163A>T (p.Ser721=) c.2160A>T (p.Ser720=) c.2079A>T (p.Ser693=) c.2076A>T (p.Ser692=) | |
X | g.20155476T>C | CA515613325 | RPS6KA3 | c.2145A>G (p.Ser715=) c.2058A>G (p.Ser686=) c.2061A>G (p.Ser687=) c.1763A>G (n.1763A>G) c.*1366A>G (n.*1366A>G) n.812A>G c.2142A>G (p.Ser714=) c.2055A>G (p.Ser685=) c.2163A>G (p.Ser721=) c.2160A>G (p.Ser720=) c.2079A>G (p.Ser693=) c.2076A>G (p.Ser692=) | |
X | g.20155476T>G | CA515613326 | RPS6KA3 | c.2145A>C (p.Ser715=) c.2058A>C (p.Ser686=) c.2061A>C (p.Ser687=) c.1763A>C (n.1763A>C) c.*1366A>C (n.*1366A>C) n.812A>C c.2142A>C (p.Ser714=) c.2055A>C (p.Ser685=) c.2163A>C (p.Ser721=) c.2160A>C (p.Ser720=) c.2079A>C (p.Ser693=) c.2076A>C (p.Ser692=) | |
X | g.20155476_20155477delinsTG | CA2418502966 | RPS6KA3 | c.2144_2145delinsCA (p.Ser715=) c.2057_2058delinsCA (p.Ser686=) c.2060_2061delinsCA (p.Ser687=) c.1762_1763delinsCA (n.1762_1763delinsCA) c.*1365_*1366delinsCA (n.*1365_*1366delinsCA) n.811_812delinsCA c.2141_2142delinsCA (p.Ser714=) c.2054_2055delinsCA (p.Ser685=) c.2162_2163delinsCA (p.Ser721=) c.2159_2160delinsCA (p.Ser720=) c.2078_2079delinsCA (p.Ser693=) c.2075_2076delinsCA (p.Ser692=) | |
X | g.20155479_20155482dup | CA2573158439 | RPS6KA3 | c.2142_2145dup (p.Pro716ValfsTer19) c.2055_2058dup (p.Pro687ValfsTer19) c.2058_2061dup (p.Pro688ValfsTer19) c.1760_1763dup (n.1760_1763dup) c.*1363_*1366dup (n.*1363_*1366dup) n.809_812dup c.2139_2142dup (p.Pro715ValfsTer19) c.2052_2055dup (p.Pro686ValfsTer19) c.2160_2163dup (p.Pro722ValfsTer?) c.2157_2160dup (p.Pro721ValfsTer19) c.2076_2079dup (p.Pro694ValfsTer19) c.2073_2076dup (p.Pro693ValfsTer19) | ClinVar dbSNP |
X | g.20155477del | CA913185055 | RPS6KA3 | c.2144del (p.Ser715TyrfsTer7) c.2057del (p.Ser686TyrfsTer7) c.2060del (p.Ser687TyrfsTer7) c.1762del (n.1762del) c.*1365del (n.*1365del) n.811del c.2141del (p.Ser714TyrfsTer7) c.2054del (p.Ser685TyrfsTer7) c.2162del (p.Ser721TyrfsTer7) c.2159del (p.Ser720TyrfsTer7) c.2078del (p.Ser693TyrfsTer7) c.2075del (p.Ser692TyrfsTer7) | ClinVar dbSNP |
X | g.20155477G>A | CA412512005 | RPS6KA3 | c.2144C>T (p.Ser715Leu) c.2057C>T (p.Ser686Leu) c.2060C>T (p.Ser687Leu) c.1762C>T (n.1762C>T) c.*1365C>T (n.*1365C>T) n.811C>T c.2141C>T (p.Ser714Leu) c.2054C>T (p.Ser685Leu) c.2162C>T (p.Ser721Leu) c.2159C>T (p.Ser720Leu) c.2078C>T (p.Ser693Leu) c.2075C>T (p.Ser692Leu) | |
X | g.20155477G>C | CA412512007 | RPS6KA3 | c.2144C>G (p.Ser715Ter) c.2057C>G (p.Ser686Ter) c.2060C>G (p.Ser687Ter) c.1762C>G (n.1762C>G) c.*1365C>G (n.*1365C>G) n.811C>G c.2141C>G (p.Ser714Ter) c.2054C>G (p.Ser685Ter) c.2162C>G (p.Ser721Ter) c.2159C>G (p.Ser720Ter) c.2078C>G (p.Ser693Ter) c.2075C>G (p.Ser692Ter) | |
X | g.20155477G>T | CA412512003 | RPS6KA3 | c.2144C>A (p.Ser715Ter) c.2057C>A (p.Ser686Ter) c.2060C>A (p.Ser687Ter) c.1762C>A (n.1762C>A) c.*1365C>A (n.*1365C>A) n.811C>A c.2141C>A (p.Ser714Ter) c.2054C>A (p.Ser685Ter) c.2162C>A (p.Ser721Ter) c.2159C>A (p.Ser720Ter) c.2078C>A (p.Ser693Ter) c.2075C>A (p.Ser692Ter) | |
X | g.20155478A>C | CA412512008 | RPS6KA3 | c.2143T>G (p.Ser715Ala) c.2056T>G (p.Ser686Ala) c.2059T>G (p.Ser687Ala) c.1761T>G (n.1761T>G) c.*1364T>G (n.*1364T>G) n.810T>G c.2140T>G (p.Ser714Ala) c.2053T>G (p.Ser685Ala) c.2161T>G (p.Ser721Ala) c.2158T>G (p.Ser720Ala) c.2077T>G (p.Ser693Ala) c.2074T>G (p.Ser692Ala) | |
X | g.20155478A>G | CA412512010 | RPS6KA3 | c.2143T>C (p.Ser715Pro) c.2056T>C (p.Ser686Pro) c.2059T>C (p.Ser687Pro) c.1761T>C (n.1761T>C) c.*1364T>C (n.*1364T>C) n.810T>C c.2140T>C (p.Ser714Pro) c.2053T>C (p.Ser685Pro) c.2161T>C (p.Ser721Pro) c.2158T>C (p.Ser720Pro) c.2077T>C (p.Ser693Pro) c.2074T>C (p.Ser692Pro) | |
X | g.20155478A>T | CA412512012 | RPS6KA3 | c.2143T>A (p.Ser715Thr) c.2056T>A (p.Ser686Thr) c.2059T>A (p.Ser687Thr) c.1761T>A (n.1761T>A) c.*1364T>A (n.*1364T>A) n.810T>A c.2140T>A (p.Ser714Thr) c.2053T>A (p.Ser685Thr) c.2161T>A (p.Ser721Thr) c.2158T>A (p.Ser720Thr) c.2077T>A (p.Ser693Thr) c.2074T>A (p.Ser692Thr) | |
X | g.20155479C>A | CA412512014 | RPS6KA3 | c.2142G>T (p.Gln714His) c.2055G>T (p.Gln685His) c.2058G>T (p.Gln686His) c.1760G>T (n.1760G>T) c.*1363G>T (n.*1363G>T) n.809G>T c.2139G>T (p.Gln713His) c.2052G>T (p.Gln684His) c.2160G>T (p.Gln720His) c.2157G>T (p.Gln719His) c.2076G>T (p.Gln692His) c.2073G>T (p.Gln691His) | |
X | g.20155479C= | CA2418502967 | RPS6KA3 | c.2142G= (p.Gln714=) c.2055G= (p.Gln685=) c.2058G= (p.Gln686=) c.1760G= (n.1760G=) c.*1363G= (n.*1363G=) n.809G= c.2139G= (p.Gln713=) c.2052G= (p.Gln684=) c.2160G= (p.Gln720=) c.2157G= (p.Gln719=) c.2076G= (p.Gln692=) c.2073G= (p.Gln691=) | |
X | g.20155479C>G | CA412512016 | RPS6KA3 | c.2142G>C (p.Gln714His) c.2055G>C (p.Gln685His) c.2058G>C (p.Gln686His) c.1760G>C (n.1760G>C) c.*1363G>C (n.*1363G>C) n.809G>C c.2139G>C (p.Gln713His) c.2052G>C (p.Gln684His) c.2160G>C (p.Gln720His) c.2157G>C (p.Gln719His) c.2076G>C (p.Gln692His) c.2073G>C (p.Gln691His) | |
X | g.20155479C>T | CA515613327 | RPS6KA3 | c.2142G>A (p.Gln714=) c.2055G>A (p.Gln685=) c.2058G>A (p.Gln686=) c.1760G>A (n.1760G>A) c.*1363G>A (n.*1363G>A) n.809G>A c.2139G>A (p.Gln713=) c.2052G>A (p.Gln684=) c.2160G>A (p.Gln720=) c.2157G>A (p.Gln719=) c.2076G>A (p.Gln692=) c.2073G>A (p.Gln691=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20155480T>A | CA412512018 | RPS6KA3 | c.2141A>T (p.Gln714Leu) c.2054A>T (p.Gln685Leu) c.2057A>T (p.Gln686Leu) c.1759A>T (n.1759A>T) c.*1362A>T (n.*1362A>T) n.808A>T c.2138A>T (p.Gln713Leu) c.2051A>T (p.Gln684Leu) c.2159A>T (p.Gln720Leu) c.2156A>T (p.Gln719Leu) c.2075A>T (p.Gln692Leu) c.2072A>T (p.Gln691Leu) | |
X | g.20155480T>C | CA412512019 | RPS6KA3 | c.2141A>G (p.Gln714Arg) c.2054A>G (p.Gln685Arg) c.2057A>G (p.Gln686Arg) c.1759A>G (n.1759A>G) c.*1362A>G (n.*1362A>G) n.808A>G c.2138A>G (p.Gln713Arg) c.2051A>G (p.Gln684Arg) c.2159A>G (p.Gln720Arg) c.2156A>G (p.Gln719Arg) c.2075A>G (p.Gln692Arg) c.2072A>G (p.Gln691Arg) | |
X | g.20155480T>G | CA412512022 | RPS6KA3 | c.2141A>C (p.Gln714Pro) c.2054A>C (p.Gln685Pro) c.2057A>C (p.Gln686Pro) c.1759A>C (n.1759A>C) c.*1362A>C (n.*1362A>C) n.808A>C c.2138A>C (p.Gln713Pro) c.2051A>C (p.Gln684Pro) c.2159A>C (p.Gln720Pro) c.2156A>C (p.Gln719Pro) c.2075A>C (p.Gln692Pro) c.2072A>C (p.Gln691Pro) | |
X | g.20155481G>A | CA412512026 | RPS6KA3 | c.2140C>T (p.Gln714Ter) c.2053C>T (p.Gln685Ter) c.2056C>T (p.Gln686Ter) c.1758C>T (n.1758C>T) c.*1361C>T (n.*1361C>T) n.807C>T c.2137C>T (p.Gln713Ter) c.2050C>T (p.Gln684Ter) c.2158C>T (p.Gln720Ter) c.2155C>T (p.Gln719Ter) c.2074C>T (p.Gln692Ter) c.2071C>T (p.Gln691Ter) | |
X | g.20155481G>C | CA412512028 | RPS6KA3 | c.2140C>G (p.Gln714Glu) c.2053C>G (p.Gln685Glu) c.2056C>G (p.Gln686Glu) c.1758C>G (n.1758C>G) c.*1361C>G (n.*1361C>G) n.807C>G c.2137C>G (p.Gln713Glu) c.2050C>G (p.Gln684Glu) c.2158C>G (p.Gln720Glu) c.2155C>G (p.Gln719Glu) c.2074C>G (p.Gln692Glu) c.2071C>G (p.Gln691Glu) | |
X | g.20155481G>T | CA412512029 | RPS6KA3 | c.2140C>A (p.Gln714Lys) c.2053C>A (p.Gln685Lys) c.2056C>A (p.Gln686Lys) c.1758C>A (n.1758C>A) c.*1361C>A (n.*1361C>A) n.807C>A c.2137C>A (p.Gln713Lys) c.2050C>A (p.Gln684Lys) c.2158C>A (p.Gln720Lys) c.2155C>A (p.Gln719Lys) c.2074C>A (p.Gln692Lys) c.2071C>A (p.Gln691Lys) | |
X | g.20155482A>C | CA412512030 | RPS6KA3 | c.2139T>G (p.Asn713Lys) c.2052T>G (p.Asn684Lys) c.2055T>G (p.Asn685Lys) c.1757T>G (n.1757T>G) c.*1360T>G (n.*1360T>G) n.806T>G c.2136T>G (p.Asn712Lys) c.2049T>G (p.Asn683Lys) c.2157T>G (p.Asn719Lys) c.2154T>G (p.Asn718Lys) c.2073T>G (p.Asn691Lys) c.2070T>G (p.Asn690Lys) | |
X | g.20155482A>G | CA515613328 | RPS6KA3 | c.2139T>C (p.Asn713=) c.2052T>C (p.Asn684=) c.2055T>C (p.Asn685=) c.1757T>C (n.1757T>C) c.*1360T>C (n.*1360T>C) n.806T>C c.2136T>C (p.Asn712=) c.2049T>C (p.Asn683=) c.2157T>C (p.Asn719=) c.2154T>C (p.Asn718=) c.2073T>C (p.Asn691=) c.2070T>C (p.Asn690=) | |
X | g.20155482A>T | CA412512031 | RPS6KA3 | c.2139T>A (p.Asn713Lys) c.2052T>A (p.Asn684Lys) c.2055T>A (p.Asn685Lys) c.1757T>A (n.1757T>A) c.*1360T>A (n.*1360T>A) n.806T>A c.2136T>A (p.Asn712Lys) c.2049T>A (p.Asn683Lys) c.2157T>A (p.Asn719Lys) c.2154T>A (p.Asn718Lys) c.2073T>A (p.Asn691Lys) c.2070T>A (p.Asn690Lys) | |
X | g.20155483T>A | CA412512043 | RPS6KA3 | c.2138A>T (p.Asn713Ile) c.2051A>T (p.Asn684Ile) c.2054A>T (p.Asn685Ile) c.1756A>T (n.1756A>T) c.*1359A>T (n.*1359A>T) n.805A>T c.2135A>T (p.Asn712Ile) c.2048A>T (p.Asn683Ile) c.2156A>T (p.Asn719Ile) c.2153A>T (p.Asn718Ile) c.2072A>T (p.Asn691Ile) c.2069A>T (p.Asn690Ile) | |
X | g.20155483T>C | CA412512034 | RPS6KA3 | c.2138A>G (p.Asn713Ser) c.2051A>G (p.Asn684Ser) c.2054A>G (p.Asn685Ser) c.1756A>G (n.1756A>G) c.*1359A>G (n.*1359A>G) n.805A>G c.2135A>G (p.Asn712Ser) c.2048A>G (p.Asn683Ser) c.2156A>G (p.Asn719Ser) c.2153A>G (p.Asn718Ser) c.2072A>G (p.Asn691Ser) c.2069A>G (p.Asn690Ser) | |
X | g.20155483T>G | CA412512032 | RPS6KA3 | c.2138A>C (p.Asn713Thr) c.2051A>C (p.Asn684Thr) c.2054A>C (p.Asn685Thr) c.1756A>C (n.1756A>C) c.*1359A>C (n.*1359A>C) n.805A>C c.2135A>C (p.Asn712Thr) c.2048A>C (p.Asn683Thr) c.2156A>C (p.Asn719Thr) c.2153A>C (p.Asn718Thr) c.2072A>C (p.Asn691Thr) c.2069A>C (p.Asn690Thr) | |
X | g.20155484T>A | CA412512045 | RPS6KA3 | c.2137A>T (p.Asn713Tyr) c.2050A>T (p.Asn684Tyr) c.2053A>T (p.Asn685Tyr) c.1755A>T (n.1755A>T) c.*1358A>T (n.*1358A>T) n.804A>T c.2134A>T (p.Asn712Tyr) c.2047A>T (p.Asn683Tyr) c.2155A>T (p.Asn719Tyr) c.2152A>T (p.Asn718Tyr) c.2071A>T (p.Asn691Tyr) c.2068A>T (p.Asn690Tyr) | |
X | g.20155484T>C | CA412512046 | RPS6KA3 | c.2137A>G (p.Asn713Asp) c.2050A>G (p.Asn684Asp) c.2053A>G (p.Asn685Asp) c.1755A>G (n.1755A>G) c.*1358A>G (n.*1358A>G) n.804A>G c.2134A>G (p.Asn712Asp) c.2047A>G (p.Asn683Asp) c.2155A>G (p.Asn719Asp) c.2152A>G (p.Asn718Asp) c.2071A>G (p.Asn691Asp) c.2068A>G (p.Asn690Asp) | gnomAD v4 |
X | g.20155484T>G | CA412512047 | RPS6KA3 | c.2137A>C (p.Asn713His) c.2050A>C (p.Asn684His) c.2053A>C (p.Asn685His) c.1755A>C (n.1755A>C) c.*1358A>C (n.*1358A>C) n.804A>C c.2134A>C (p.Asn712His) c.2047A>C (p.Asn683His) c.2155A>C (p.Asn719His) c.2152A>C (p.Asn718His) c.2071A>C (p.Asn691His) c.2068A>C (p.Asn690His) | |
X | g.20155485A>C | CA515613329 | RPS6KA3 | c.2136T>G (p.Arg712=) c.2049T>G (p.Arg683=) c.2052T>G (p.Arg684=) c.1754T>G (n.1754T>G) c.*1357T>G (n.*1357T>G) n.803T>G c.2133T>G (p.Arg711=) c.2046T>G (p.Arg682=) c.2154T>G (p.Arg718=) c.2151T>G (p.Arg717=) c.2070T>G (p.Arg690=) c.2067T>G (p.Arg689=) | |
X | g.20155485A>G | CA515613330 | RPS6KA3 | c.2136T>C (p.Arg712=) c.2049T>C (p.Arg683=) c.2052T>C (p.Arg684=) c.1754T>C (n.1754T>C) c.*1357T>C (n.*1357T>C) n.803T>C c.2133T>C (p.Arg711=) c.2046T>C (p.Arg682=) c.2154T>C (p.Arg718=) c.2151T>C (p.Arg717=) c.2070T>C (p.Arg690=) c.2067T>C (p.Arg689=) | |
X | g.20155485A>T | CA515613331 | RPS6KA3 | c.2136T>A (p.Arg712=) c.2049T>A (p.Arg683=) c.2052T>A (p.Arg684=) c.1754T>A (n.1754T>A) c.*1357T>A (n.*1357T>A) n.803T>A c.2133T>A (p.Arg711=) c.2046T>A (p.Arg682=) c.2154T>A (p.Arg718=) c.2151T>A (p.Arg717=) c.2070T>A (p.Arg690=) c.2067T>A (p.Arg689=) | |
X | g.20155486C>A | CA412512048 | RPS6KA3 | c.2135G>T (p.Arg712Leu) c.2048G>T (p.Arg683Leu) c.2051G>T (p.Arg684Leu) c.1753G>T (n.1753G>T) c.*1356G>T (n.*1356G>T) n.802G>T c.2132G>T (p.Arg711Leu) c.2045G>T (p.Arg682Leu) c.2153G>T (p.Arg718Leu) c.2150G>T (p.Arg717Leu) c.2069G>T (p.Arg690Leu) c.2066G>T (p.Arg689Leu) | |
X | g.20155486C= | CA2418502968 | RPS6KA3 | c.2135G= (p.Arg712=) c.2048G= (p.Arg683=) c.2051G= (p.Arg684=) c.1753G= (n.1753G=) c.*1356G= (n.*1356G=) n.802G= c.2132G= (p.Arg711=) c.2045G= (p.Arg682=) c.2153G= (p.Arg718=) c.2150G= (p.Arg717=) c.2069G= (p.Arg690=) c.2066G= (p.Arg689=) | |
X | g.20155486C>G | CA412512049 | RPS6KA3 | c.2135G>C (p.Arg712Pro) c.2048G>C (p.Arg683Pro) c.2051G>C (p.Arg684Pro) c.1753G>C (n.1753G>C) c.*1356G>C (n.*1356G>C) n.802G>C c.2132G>C (p.Arg711Pro) c.2045G>C (p.Arg682Pro) c.2153G>C (p.Arg718Pro) c.2150G>C (p.Arg717Pro) c.2069G>C (p.Arg690Pro) c.2066G>C (p.Arg689Pro) | |
X | g.20155486C>T | CA327473502 | RPS6KA3 | c.2135G>A (p.Arg712His) c.2048G>A (p.Arg683His) c.2051G>A (p.Arg684His) c.1753G>A (n.1753G>A) c.*1356G>A (n.*1356G>A) n.802G>A c.2132G>A (p.Arg711His) c.2045G>A (p.Arg682His) c.2153G>A (p.Arg718His) c.2150G>A (p.Arg717His) c.2069G>A (p.Arg690His) c.2066G>A (p.Arg689His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.20155487G>A | CA412512052 | RPS6KA3 | c.2134C>T (p.Arg712Cys) c.2047C>T (p.Arg683Cys) c.2050C>T (p.Arg684Cys) c.1752C>T (n.1752C>T) c.*1355C>T (n.*1355C>T) n.801C>T c.2131C>T (p.Arg711Cys) c.2044C>T (p.Arg682Cys) c.2152C>T (p.Arg718Cys) c.2149C>T (p.Arg717Cys) c.2068C>T (p.Arg690Cys) c.2065C>T (p.Arg689Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.20155487G>C | CA412512053 | RPS6KA3 | c.2134C>G (p.Arg712Gly) c.2047C>G (p.Arg683Gly) c.2050C>G (p.Arg684Gly) c.1752C>G (n.1752C>G) c.*1355C>G (n.*1355C>G) n.801C>G c.2131C>G (p.Arg711Gly) c.2044C>G (p.Arg682Gly) c.2152C>G (p.Arg718Gly) c.2149C>G (p.Arg717Gly) c.2068C>G (p.Arg690Gly) c.2065C>G (p.Arg689Gly) | dbSNP gnomAD v2 gnomAD v4 |
X | g.20155487G= | CA2418502969 | RPS6KA3 | c.2134C= (p.Arg712=) c.2047C= (p.Arg683=) c.2050C= (p.Arg684=) c.1752C= (n.1752C=) c.*1355C= (n.*1355C=) n.801C= c.2131C= (p.Arg711=) c.2044C= (p.Arg682=) c.2152C= (p.Arg718=) c.2149C= (p.Arg717=) c.2068C= (p.Arg690=) c.2065C= (p.Arg689=) | |
X | g.20155487G>T | CA412512055 | RPS6KA3 | c.2134C>A (p.Arg712Ser) c.2047C>A (p.Arg683Ser) c.2050C>A (p.Arg684Ser) c.1752C>A (n.1752C>A) c.*1355C>A (n.*1355C>A) n.801C>A c.2131C>A (p.Arg711Ser) c.2044C>A (p.Arg682Ser) c.2152C>A (p.Arg718Ser) c.2149C>A (p.Arg717Ser) c.2068C>A (p.Arg690Ser) c.2065C>A (p.Arg689Ser) | |
X | g.20155488G>A | CA515613332 | RPS6KA3 | c.2133C>T (p.Asn711=) c.2046C>T (p.Asn682=) c.2049C>T (p.Asn683=) c.1751C>T (n.1751C>T) c.*1354C>T (n.*1354C>T) n.800C>T c.2130C>T (p.Asn710=) c.2043C>T (p.Asn681=) c.2151C>T (p.Asn717=) c.2148C>T (p.Asn716=) c.2067C>T (p.Asn689=) c.2064C>T (p.Asn688=) | |
X | g.20155488G>C | CA412512057 | RPS6KA3 | c.2133C>G (p.Asn711Lys) c.2046C>G (p.Asn682Lys) c.2049C>G (p.Asn683Lys) c.1751C>G (n.1751C>G) c.*1354C>G (n.*1354C>G) n.800C>G c.2130C>G (p.Asn710Lys) c.2043C>G (p.Asn681Lys) c.2151C>G (p.Asn717Lys) c.2148C>G (p.Asn716Lys) c.2067C>G (p.Asn689Lys) c.2064C>G (p.Asn688Lys) | |
X | g.20155488G>T | CA412512059 | RPS6KA3 | c.2133C>A (p.Asn711Lys) c.2046C>A (p.Asn682Lys) c.2049C>A (p.Asn683Lys) c.1751C>A (n.1751C>A) c.*1354C>A (n.*1354C>A) n.800C>A c.2130C>A (p.Asn710Lys) c.2043C>A (p.Asn681Lys) c.2151C>A (p.Asn717Lys) c.2148C>A (p.Asn716Lys) c.2067C>A (p.Asn689Lys) c.2064C>A (p.Asn688Lys) | |
X | g.20155489T>A | CA412512060 | RPS6KA3 | c.2132A>T (p.Asn711Ile) c.2045A>T (p.Asn682Ile) c.2048A>T (p.Asn683Ile) c.1750A>T (n.1750A>T) c.*1353A>T (n.*1353A>T) n.799A>T c.2129A>T (p.Asn710Ile) c.2042A>T (p.Asn681Ile) c.2150A>T (p.Asn717Ile) c.2147A>T (p.Asn716Ile) c.2066A>T (p.Asn689Ile) c.2063A>T (p.Asn688Ile) | |
X | g.20155489T>C | CA412512063 | RPS6KA3 | c.2132A>G (p.Asn711Ser) c.2045A>G (p.Asn682Ser) c.2048A>G (p.Asn683Ser) c.1750A>G (n.1750A>G) c.*1353A>G (n.*1353A>G) n.799A>G c.2129A>G (p.Asn710Ser) c.2042A>G (p.Asn681Ser) c.2150A>G (p.Asn717Ser) c.2147A>G (p.Asn716Ser) c.2066A>G (p.Asn689Ser) c.2063A>G (p.Asn688Ser) | |
X | g.20155489T>G | CA412512064 | RPS6KA3 | c.2132A>C (p.Asn711Thr) c.2045A>C (p.Asn682Thr) c.2048A>C (p.Asn683Thr) c.1750A>C (n.1750A>C) c.*1353A>C (n.*1353A>C) n.799A>C c.2129A>C (p.Asn710Thr) c.2042A>C (p.Asn681Thr) c.2150A>C (p.Asn717Thr) c.2147A>C (p.Asn716Thr) c.2066A>C (p.Asn689Thr) c.2063A>C (p.Asn688Thr) | gnomAD v4 |
X | g.20155490T>A | CA412512066 | RPS6KA3 | c.2131A>T (p.Asn711Tyr) c.2044A>T (p.Asn682Tyr) c.2047A>T (p.Asn683Tyr) c.1749A>T (n.1749A>T) c.*1352A>T (n.*1352A>T) n.798A>T c.2128A>T (p.Asn710Tyr) c.2041A>T (p.Asn681Tyr) c.2149A>T (p.Asn717Tyr) c.2146A>T (p.Asn716Tyr) c.2065A>T (p.Asn689Tyr) c.2062A>T (p.Asn688Tyr) | |
X | g.20155490T>C | CA412512068 | RPS6KA3 | c.2131A>G (p.Asn711Asp) c.2044A>G (p.Asn682Asp) c.2047A>G (p.Asn683Asp) c.1749A>G (n.1749A>G) c.*1352A>G (n.*1352A>G) n.798A>G c.2128A>G (p.Asn710Asp) c.2041A>G (p.Asn681Asp) c.2149A>G (p.Asn717Asp) c.2146A>G (p.Asn716Asp) c.2065A>G (p.Asn689Asp) c.2062A>G (p.Asn688Asp) | |
X | g.20155490T>G | CA412512065 | RPS6KA3 | c.2131A>C (p.Asn711His) c.2044A>C (p.Asn682His) c.2047A>C (p.Asn683His) c.1749A>C (n.1749A>C) c.*1352A>C (n.*1352A>C) n.798A>C c.2128A>C (p.Asn710His) c.2041A>C (p.Asn681His) c.2149A>C (p.Asn717His) c.2146A>C (p.Asn716His) c.2065A>C (p.Asn689His) c.2062A>C (p.Asn688His) | |
X | g.20155491C>A | CA412512069 | RPS6KA3 | c.2130G>T (p.Leu710Phe) c.2043G>T (p.Leu681Phe) c.2046G>T (p.Leu682Phe) c.1748G>T (n.1748G>T) c.*1351G>T (n.*1351G>T) n.797G>T c.2127G>T (p.Leu709Phe) c.2040G>T (p.Leu680Phe) c.2148G>T (p.Leu716Phe) c.2145G>T (p.Leu715Phe) c.2064G>T (p.Leu688Phe) c.2061G>T (p.Leu687Phe) | |
X | g.20155491C>G | CA412512071 | RPS6KA3 | c.2130G>C (p.Leu710Phe) c.2043G>C (p.Leu681Phe) c.2046G>C (p.Leu682Phe) c.1748G>C (n.1748G>C) c.*1351G>C (n.*1351G>C) n.797G>C c.2127G>C (p.Leu709Phe) c.2040G>C (p.Leu680Phe) c.2148G>C (p.Leu716Phe) c.2145G>C (p.Leu715Phe) c.2064G>C (p.Leu688Phe) c.2061G>C (p.Leu687Phe) | |
X | g.20155491C>T | CA515613333 | RPS6KA3 | c.2130G>A (p.Leu710=) c.2043G>A (p.Leu681=) c.2046G>A (p.Leu682=) c.1748G>A (n.1748G>A) c.*1351G>A (n.*1351G>A) n.797G>A c.2127G>A (p.Leu709=) c.2040G>A (p.Leu680=) c.2148G>A (p.Leu716=) c.2145G>A (p.Leu715=) c.2064G>A (p.Leu688=) c.2061G>A (p.Leu687=) | |
X | g.20155492A>C | CA412512073 | RPS6KA3 | c.2129T>G (p.Leu710Trp) c.2042T>G (p.Leu681Trp) c.2045T>G (p.Leu682Trp) c.1747T>G (n.1747T>G) c.*1350T>G (n.*1350T>G) n.796T>G c.2126T>G (p.Leu709Trp) c.2039T>G (p.Leu680Trp) c.2147T>G (p.Leu716Trp) c.2144T>G (p.Leu715Trp) c.2063T>G (p.Leu688Trp) c.2060T>G (p.Leu687Trp) | |
X | g.20155492A>G | CA412512075 | RPS6KA3 | c.2129T>C (p.Leu710Ser) c.2042T>C (p.Leu681Ser) c.2045T>C (p.Leu682Ser) c.1747T>C (n.1747T>C) c.*1350T>C (n.*1350T>C) n.796T>C c.2126T>C (p.Leu709Ser) c.2039T>C (p.Leu680Ser) c.2147T>C (p.Leu716Ser) c.2144T>C (p.Leu715Ser) c.2063T>C (p.Leu688Ser) c.2060T>C (p.Leu687Ser) | |
X | g.20155492A>T | CA412512079 | RPS6KA3 | c.2129T>A (p.Leu710Ter) c.2042T>A (p.Leu681Ter) c.2045T>A (p.Leu682Ter) c.1747T>A (n.1747T>A) c.*1350T>A (n.*1350T>A) n.796T>A c.2126T>A (p.Leu709Ter) c.2039T>A (p.Leu680Ter) c.2147T>A (p.Leu716Ter) c.2144T>A (p.Leu715Ter) c.2063T>A (p.Leu688Ter) c.2060T>A (p.Leu687Ter) | |
X | g.20155493A>C | CA412512081 | RPS6KA3 | c.2128T>G (p.Leu710Val) c.2041T>G (p.Leu681Val) c.2044T>G (p.Leu682Val) c.1746T>G (n.1746T>G) c.*1349T>G (n.*1349T>G) n.795T>G c.2125T>G (p.Leu709Val) c.2038T>G (p.Leu680Val) c.2146T>G (p.Leu716Val) c.2143T>G (p.Leu715Val) c.2062T>G (p.Leu688Val) c.2059T>G (p.Leu687Val) | |
X | g.20155493A>G | CA515613334 | RPS6KA3 | c.2128T>C (p.Leu710=) c.2041T>C (p.Leu681=) c.2044T>C (p.Leu682=) c.1746T>C (n.1746T>C) c.*1349T>C (n.*1349T>C) n.795T>C c.2125T>C (p.Leu709=) c.2038T>C (p.Leu680=) c.2146T>C (p.Leu716=) c.2143T>C (p.Leu715=) c.2062T>C (p.Leu688=) c.2059T>C (p.Leu687=) | |
X | g.20155493A>T | CA412512082 | RPS6KA3 | c.2128T>A (p.Leu710Met) c.2041T>A (p.Leu681Met) c.2044T>A (p.Leu682Met) c.1746T>A (n.1746T>A) c.*1349T>A (n.*1349T>A) n.795T>A c.2125T>A (p.Leu709Met) c.2038T>A (p.Leu680Met) c.2146T>A (p.Leu716Met) c.2143T>A (p.Leu715Met) c.2062T>A (p.Leu688Met) c.2059T>A (p.Leu687Met) | |
X | g.20155494A>C | CA515613337 | RPS6KA3 | c.2127T>G (p.Ala709=) c.2040T>G (p.Ala680=) c.2043T>G (p.Ala681=) c.1745T>G (n.1745T>G) c.*1348T>G (n.*1348T>G) n.794T>G c.2124T>G (p.Ala708=) c.2037T>G (p.Ala679=) c.2145T>G (p.Ala715=) c.2142T>G (p.Ala714=) c.2061T>G (p.Ala687=) c.2058T>G (p.Ala686=) | |
X | g.20155494A>G | CA515613336 | RPS6KA3 | c.2127T>C (p.Ala709=) c.2040T>C (p.Ala680=) c.2043T>C (p.Ala681=) c.1745T>C (n.1745T>C) c.*1348T>C (n.*1348T>C) n.794T>C c.2124T>C (p.Ala708=) c.2037T>C (p.Ala679=) c.2145T>C (p.Ala715=) c.2142T>C (p.Ala714=) c.2061T>C (p.Ala687=) c.2058T>C (p.Ala686=) | |
X | g.20155494A>T | CA515613335 | RPS6KA3 | c.2127T>A (p.Ala709=) c.2040T>A (p.Ala680=) c.2043T>A (p.Ala681=) c.1745T>A (n.1745T>A) c.*1348T>A (n.*1348T>A) n.794T>A c.2124T>A (p.Ala708=) c.2037T>A (p.Ala679=) c.2145T>A (p.Ala715=) c.2142T>A (p.Ala714=) c.2061T>A (p.Ala687=) c.2058T>A (p.Ala686=) | |
X | g.20155495G>A | CA412512085 | RPS6KA3 | c.2126C>T (p.Ala709Val) c.2039C>T (p.Ala680Val) c.2042C>T (p.Ala681Val) c.1744C>T (n.1744C>T) c.*1347C>T (n.*1347C>T) n.793C>T c.2123C>T (p.Ala708Val) c.2036C>T (p.Ala679Val) c.2144C>T (p.Ala715Val) c.2141C>T (p.Ala714Val) c.2060C>T (p.Ala687Val) c.2057C>T (p.Ala686Val) | |
X | g.20155495G>C | CA412512087 | RPS6KA3 | c.2126C>G (p.Ala709Gly) c.2039C>G (p.Ala680Gly) c.2042C>G (p.Ala681Gly) c.1744C>G (n.1744C>G) c.*1347C>G (n.*1347C>G) n.793C>G c.2123C>G (p.Ala708Gly) c.2036C>G (p.Ala679Gly) c.2144C>G (p.Ala715Gly) c.2141C>G (p.Ala714Gly) c.2060C>G (p.Ala687Gly) c.2057C>G (p.Ala686Gly) | |
X | g.20155495G>T | CA412512090 | RPS6KA3 | c.2126C>A (p.Ala709Asp) c.2039C>A (p.Ala680Asp) c.2042C>A (p.Ala681Asp) c.1744C>A (n.1744C>A) c.*1347C>A (n.*1347C>A) n.793C>A c.2123C>A (p.Ala708Asp) c.2036C>A (p.Ala679Asp) c.2144C>A (p.Ala715Asp) c.2141C>A (p.Ala714Asp) c.2060C>A (p.Ala687Asp) c.2057C>A (p.Ala686Asp) | |
X | g.20155496C>A | CA412512092 | RPS6KA3 | c.2125G>T (p.Ala709Ser) c.2038G>T (p.Ala680Ser) c.2041G>T (p.Ala681Ser) c.1743G>T (n.1743G>T) c.*1346G>T (n.*1346G>T) n.792G>T c.2122G>T (p.Ala708Ser) c.2035G>T (p.Ala679Ser) c.2143G>T (p.Ala715Ser) c.2140G>T (p.Ala714Ser) c.2059G>T (p.Ala687Ser) c.2056G>T (p.Ala686Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20155496C= | CA2418502970 | RPS6KA3 | c.2125G= (p.Ala709=) c.2038G= (p.Ala680=) c.2041G= (p.Ala681=) c.1743G= (n.1743G=) c.*1346G= (n.*1346G=) n.792G= c.2122G= (p.Ala708=) c.2035G= (p.Ala679=) c.2143G= (p.Ala715=) c.2140G= (p.Ala714=) c.2059G= (p.Ala687=) c.2056G= (p.Ala686=) | |
X | g.20155496C>G | CA412512093 | RPS6KA3 | c.2125G>C (p.Ala709Pro) c.2038G>C (p.Ala680Pro) c.2041G>C (p.Ala681Pro) c.1743G>C (n.1743G>C) c.*1346G>C (n.*1346G>C) n.792G>C c.2122G>C (p.Ala708Pro) c.2035G>C (p.Ala679Pro) c.2143G>C (p.Ala715Pro) c.2140G>C (p.Ala714Pro) c.2059G>C (p.Ala687Pro) c.2056G>C (p.Ala686Pro) | |
X | g.20155496C>T | CA412512095 | RPS6KA3 | c.2125G>A (p.Ala709Thr) c.2038G>A (p.Ala680Thr) c.2041G>A (p.Ala681Thr) c.1743G>A (n.1743G>A) c.*1346G>A (n.*1346G>A) n.792G>A c.2122G>A (p.Ala708Thr) c.2035G>A (p.Ala679Thr) c.2143G>A (p.Ala715Thr) c.2140G>A (p.Ala714Thr) c.2059G>A (p.Ala687Thr) c.2056G>A (p.Ala686Thr) | |
X | g.20155497A>C | CA515613340 | RPS6KA3 | c.2124T>G (p.Ser708=) c.2037T>G (p.Ser679=) c.2040T>G (p.Ser680=) c.1742T>G (n.1742T>G) c.*1345T>G (n.*1345T>G) n.791T>G c.2121T>G (p.Ser707=) c.2034T>G (p.Ser678=) c.2142T>G (p.Ser714=) c.2139T>G (p.Ser713=) c.2058T>G (p.Ser686=) c.2055T>G (p.Ser685=) | |
X | g.20155497A>G | CA515613339 | RPS6KA3 | c.2124T>C (p.Ser708=) c.2037T>C (p.Ser679=) c.2040T>C (p.Ser680=) c.1742T>C (n.1742T>C) c.*1345T>C (n.*1345T>C) n.791T>C c.2121T>C (p.Ser707=) c.2034T>C (p.Ser678=) c.2142T>C (p.Ser714=) c.2139T>C (p.Ser713=) c.2058T>C (p.Ser686=) c.2055T>C (p.Ser685=) | |
X | g.20155497A>T | CA515613338 | RPS6KA3 | c.2124T>A (p.Ser708=) c.2037T>A (p.Ser679=) c.2040T>A (p.Ser680=) c.1742T>A (n.1742T>A) c.*1345T>A (n.*1345T>A) n.791T>A c.2121T>A (p.Ser707=) c.2034T>A (p.Ser678=) c.2142T>A (p.Ser714=) c.2139T>A (p.Ser713=) c.2058T>A (p.Ser686=) c.2055T>A (p.Ser685=) | |
X | g.20155498G>A | CA412512100 | RPS6KA3 | c.2123C>T (p.Ser708Phe) c.2036C>T (p.Ser679Phe) c.2039C>T (p.Ser680Phe) c.1741C>T (n.1741C>T) c.*1344C>T (n.*1344C>T) n.790C>T c.2120C>T (p.Ser707Phe) c.2033C>T (p.Ser678Phe) c.2141C>T (p.Ser714Phe) c.2138C>T (p.Ser713Phe) c.2057C>T (p.Ser686Phe) c.2054C>T (p.Ser685Phe) | |
X | g.20155498G>C | CA412512096 | RPS6KA3 | c.2123C>G (p.Ser708Cys) c.2036C>G (p.Ser679Cys) c.2039C>G (p.Ser680Cys) c.1741C>G (n.1741C>G) c.*1344C>G (n.*1344C>G) n.790C>G c.2120C>G (p.Ser707Cys) c.2033C>G (p.Ser678Cys) c.2141C>G (p.Ser714Cys) c.2138C>G (p.Ser713Cys) c.2057C>G (p.Ser686Cys) c.2054C>G (p.Ser685Cys) | |
X | g.20155498G>T | CA412512098 | RPS6KA3 | c.2123C>A (p.Ser708Tyr) c.2036C>A (p.Ser679Tyr) c.2039C>A (p.Ser680Tyr) c.1741C>A (n.1741C>A) c.*1344C>A (n.*1344C>A) n.790C>A c.2120C>A (p.Ser707Tyr) c.2033C>A (p.Ser678Tyr) c.2141C>A (p.Ser714Tyr) c.2138C>A (p.Ser713Tyr) c.2057C>A (p.Ser686Tyr) c.2054C>A (p.Ser685Tyr) | |
X | g.20155499A>C | CA412512102 | RPS6KA3 | c.2122T>G (p.Ser708Ala) c.2035T>G (p.Ser679Ala) c.2038T>G (p.Ser680Ala) c.1740T>G (n.1740T>G) c.*1343T>G (n.*1343T>G) n.789T>G c.2119T>G (p.Ser707Ala) c.2032T>G (p.Ser678Ala) c.2140T>G (p.Ser714Ala) c.2137T>G (p.Ser713Ala) c.2056T>G (p.Ser686Ala) c.2053T>G (p.Ser685Ala) | |
X | g.20155499A>G | CA412512110 | RPS6KA3 | c.2122T>C (p.Ser708Pro) c.2035T>C (p.Ser679Pro) c.2038T>C (p.Ser680Pro) c.1740T>C (n.1740T>C) c.*1343T>C (n.*1343T>C) n.789T>C c.2119T>C (p.Ser707Pro) c.2032T>C (p.Ser678Pro) c.2140T>C (p.Ser714Pro) c.2137T>C (p.Ser713Pro) c.2056T>C (p.Ser686Pro) c.2053T>C (p.Ser685Pro) | |
X | g.20155499A>T | CA412512112 | RPS6KA3 | c.2122T>A (p.Ser708Thr) c.2035T>A (p.Ser679Thr) c.2038T>A (p.Ser680Thr) c.1740T>A (n.1740T>A) c.*1343T>A (n.*1343T>A) n.789T>A c.2119T>A (p.Ser707Thr) c.2032T>A (p.Ser678Thr) c.2140T>A (p.Ser714Thr) c.2137T>A (p.Ser713Thr) c.2056T>A (p.Ser686Thr) c.2053T>A (p.Ser685Thr) | |
X | g.20155500A>C | CA412512118 | RPS6KA3 | c.2121T>G (p.Tyr707Ter) c.2034T>G (p.Tyr678Ter) c.2037T>G (p.Tyr679Ter) c.1739T>G (n.1739T>G) c.*1342T>G (n.*1342T>G) n.788T>G c.2118T>G (p.Tyr706Ter) c.2031T>G (p.Tyr677Ter) c.2139T>G (p.Tyr713Ter) c.2136T>G (p.Tyr712Ter) c.2055T>G (p.Tyr685Ter) c.2052T>G (p.Tyr684Ter) | |
X | g.20155500A>G | CA515613341 | RPS6KA3 | c.2121T>C (p.Tyr707=) c.2034T>C (p.Tyr678=) c.2037T>C (p.Tyr679=) c.1739T>C (n.1739T>C) c.*1342T>C (n.*1342T>C) n.788T>C c.2118T>C (p.Tyr706=) c.2031T>C (p.Tyr677=) c.2139T>C (p.Tyr713=) c.2136T>C (p.Tyr712=) c.2055T>C (p.Tyr685=) c.2052T>C (p.Tyr684=) | gnomAD v4 |
X | g.20155500A>T | CA412512120 | RPS6KA3 | c.2121T>A (p.Tyr707Ter) c.2034T>A (p.Tyr678Ter) c.2037T>A (p.Tyr679Ter) c.1739T>A (n.1739T>A) c.*1342T>A (n.*1342T>A) n.788T>A c.2118T>A (p.Tyr706Ter) c.2031T>A (p.Tyr677Ter) c.2139T>A (p.Tyr713Ter) c.2136T>A (p.Tyr712Ter) c.2055T>A (p.Tyr685Ter) c.2052T>A (p.Tyr684Ter) | |
X | g.20155501T>A | CA412512122 | RPS6KA3 | c.2120A>T (p.Tyr707Phe) c.2033A>T (p.Tyr678Phe) c.2036A>T (p.Tyr679Phe) c.1738A>T (n.1738A>T) c.*1341A>T (n.*1341A>T) n.787A>T c.2117A>T (p.Tyr706Phe) c.2030A>T (p.Tyr677Phe) c.2138A>T (p.Tyr713Phe) c.2135A>T (p.Tyr712Phe) c.2054A>T (p.Tyr685Phe) c.2051A>T (p.Tyr684Phe) | |
X | g.20155501T>C | CA412512124 | RPS6KA3 | c.2120A>G (p.Tyr707Cys) c.2033A>G (p.Tyr678Cys) c.2036A>G (p.Tyr679Cys) c.1738A>G (n.1738A>G) c.*1341A>G (n.*1341A>G) n.787A>G c.2117A>G (p.Tyr706Cys) c.2030A>G (p.Tyr677Cys) c.2138A>G (p.Tyr713Cys) c.2135A>G (p.Tyr712Cys) c.2054A>G (p.Tyr685Cys) c.2051A>G (p.Tyr684Cys) | |
X | g.20155501T>G | CA412512126 | RPS6KA3 | c.2120A>C (p.Tyr707Ser) c.2033A>C (p.Tyr678Ser) c.2036A>C (p.Tyr679Ser) c.1738A>C (n.1738A>C) c.*1341A>C (n.*1341A>C) n.787A>C c.2117A>C (p.Tyr706Ser) c.2030A>C (p.Tyr677Ser) c.2138A>C (p.Tyr713Ser) c.2135A>C (p.Tyr712Ser) c.2054A>C (p.Tyr685Ser) c.2051A>C (p.Tyr684Ser) | |
X | g.20155502A>C | CA412512129 | RPS6KA3 | c.2119T>G (p.Tyr707Asp) c.2032T>G (p.Tyr678Asp) c.2035T>G (p.Tyr679Asp) c.1737T>G (n.1737T>G) c.*1340T>G (n.*1340T>G) n.786T>G c.2116T>G (p.Tyr706Asp) c.2029T>G (p.Tyr677Asp) c.2137T>G (p.Tyr713Asp) c.2134T>G (p.Tyr712Asp) c.2053T>G (p.Tyr685Asp) c.2050T>G (p.Tyr684Asp) | |
X | g.20155502A>G | CA412512130 | RPS6KA3 | c.2119T>C (p.Tyr707His) c.2032T>C (p.Tyr678His) c.2035T>C (p.Tyr679His) c.1737T>C (n.1737T>C) c.*1340T>C (n.*1340T>C) n.786T>C c.2116T>C (p.Tyr706His) c.2029T>C (p.Tyr677His) c.2137T>C (p.Tyr713His) c.2134T>C (p.Tyr712His) c.2053T>C (p.Tyr685His) c.2050T>C (p.Tyr684His) | |
X | g.20155502A>T | CA412512132 | RPS6KA3 | c.2119T>A (p.Tyr707Asn) c.2032T>A (p.Tyr678Asn) c.2035T>A (p.Tyr679Asn) c.1737T>A (n.1737T>A) c.*1340T>A (n.*1340T>A) n.786T>A c.2116T>A (p.Tyr706Asn) c.2029T>A (p.Tyr677Asn) c.2137T>A (p.Tyr713Asn) c.2134T>A (p.Tyr712Asn) c.2053T>A (p.Tyr685Asn) c.2050T>A (p.Tyr684Asn) | |
X | g.20155503T>A | CA515613342 | RPS6KA3 | c.2118A>T (p.Thr706=) c.2031A>T (p.Thr677=) c.2034A>T (p.Thr678=) c.1736A>T (n.1736A>T) c.*1339A>T (n.*1339A>T) n.785A>T c.2115A>T (p.Thr705=) c.2028A>T (p.Thr676=) c.2136A>T (p.Thr712=) c.2133A>T (p.Thr711=) c.2052A>T (p.Thr684=) c.2049A>T (p.Thr683=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20155503T>C | CA327473503 | RPS6KA3 | c.2118A>G (p.Thr706=) c.2031A>G (p.Thr677=) c.2034A>G (p.Thr678=) c.1736A>G (n.1736A>G) c.*1339A>G (n.*1339A>G) n.785A>G c.2115A>G (p.Thr705=) c.2028A>G (p.Thr676=) c.2136A>G (p.Thr712=) c.2133A>G (p.Thr711=) c.2052A>G (p.Thr684=) c.2049A>G (p.Thr683=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.20155503T>G | CA515613343 | RPS6KA3 | c.2118A>C (p.Thr706=) c.2031A>C (p.Thr677=) c.2034A>C (p.Thr678=) c.1736A>C (n.1736A>C) c.*1339A>C (n.*1339A>C) n.785A>C c.2115A>C (p.Thr705=) c.2028A>C (p.Thr676=) c.2136A>C (p.Thr712=) c.2133A>C (p.Thr711=) c.2052A>C (p.Thr684=) c.2049A>C (p.Thr683=) | |
X | g.20155503T= | CA2418502971 | RPS6KA3 | c.2118A= (p.Thr706=) c.2031A= (p.Thr677=) c.2034A= (p.Thr678=) c.1736A= (n.1736A=) c.*1339A= (n.*1339A=) n.785A= c.2115A= (p.Thr705=) c.2028A= (p.Thr676=) c.2136A= (p.Thr712=) c.2133A= (p.Thr711=) c.2052A= (p.Thr684=) c.2049A= (p.Thr683=) | |
X | g.20155504G>A | CA412512137 | RPS6KA3 | c.2117C>T (p.Thr706Ile) c.2030C>T (p.Thr677Ile) c.2033C>T (p.Thr678Ile) c.1735C>T (n.1735C>T) c.*1338C>T (n.*1338C>T) n.784C>T c.2114C>T (p.Thr705Ile) c.2027C>T (p.Thr676Ile) c.2135C>T (p.Thr712Ile) c.2132C>T (p.Thr711Ile) c.2051C>T (p.Thr684Ile) c.2048C>T (p.Thr683Ile) | |
X | g.20155504G>C | CA412512133 | RPS6KA3 | c.2117C>G (p.Thr706Arg) c.2030C>G (p.Thr677Arg) c.2033C>G (p.Thr678Arg) c.1735C>G (n.1735C>G) c.*1338C>G (n.*1338C>G) n.784C>G c.2114C>G (p.Thr705Arg) c.2027C>G (p.Thr676Arg) c.2135C>G (p.Thr712Arg) c.2132C>G (p.Thr711Arg) c.2051C>G (p.Thr684Arg) c.2048C>G (p.Thr683Arg) | |
X | g.20155504G>T | CA412512135 | RPS6KA3 | c.2117C>A (p.Thr706Lys) c.2030C>A (p.Thr677Lys) c.2033C>A (p.Thr678Lys) c.1735C>A (n.1735C>A) c.*1338C>A (n.*1338C>A) n.784C>A c.2114C>A (p.Thr705Lys) c.2027C>A (p.Thr676Lys) c.2135C>A (p.Thr712Lys) c.2132C>A (p.Thr711Lys) c.2051C>A (p.Thr684Lys) c.2048C>A (p.Thr683Lys) | |
X | g.20155505T>A | CA412512138 | RPS6KA3 | c.2116A>T (p.Thr706Ser) c.2029A>T (p.Thr677Ser) c.2032A>T (p.Thr678Ser) c.1734A>T (n.1734A>T) c.*1337A>T (n.*1337A>T) n.783A>T c.2113A>T (p.Thr705Ser) c.2026A>T (p.Thr676Ser) c.2134A>T (p.Thr712Ser) c.2131A>T (p.Thr711Ser) c.2050A>T (p.Thr684Ser) c.2047A>T (p.Thr683Ser) | |
X | g.20155505T>C | CA412512140 | RPS6KA3 | c.2116A>G (p.Thr706Ala) c.2029A>G (p.Thr677Ala) c.2032A>G (p.Thr678Ala) c.1734A>G (n.1734A>G) c.*1337A>G (n.*1337A>G) n.783A>G c.2113A>G (p.Thr705Ala) c.2026A>G (p.Thr676Ala) c.2134A>G (p.Thr712Ala) c.2131A>G (p.Thr711Ala) c.2050A>G (p.Thr684Ala) c.2047A>G (p.Thr683Ala) | |
X | g.20155505T>G | CA412512139 | RPS6KA3 | c.2116A>C (p.Thr706Pro) c.2029A>C (p.Thr677Pro) c.2032A>C (p.Thr678Pro) c.1734A>C (n.1734A>C) c.*1337A>C (n.*1337A>C) n.783A>C c.2113A>C (p.Thr705Pro) c.2026A>C (p.Thr676Pro) c.2134A>C (p.Thr712Pro) c.2131A>C (p.Thr711Pro) c.2050A>C (p.Thr684Pro) c.2047A>C (p.Thr683Pro) | |
X | g.20155506A>C | CA515613345 | RPS6KA3 | c.2115T>G (p.Ala705=) c.2028T>G (p.Ala676=) c.2031T>G (p.Ala677=) c.1733T>G (n.1733T>G) c.*1336T>G (n.*1336T>G) n.782T>G c.2112T>G (p.Ala704=) c.2025T>G (p.Ala675=) c.2133T>G (p.Ala711=) c.2130T>G (p.Ala710=) c.2049T>G (p.Ala683=) c.2046T>G (p.Ala682=) | |
X | g.20155506A>G | CA515613344 | RPS6KA3 | c.2115T>C (p.Ala705=) c.2028T>C (p.Ala676=) c.2031T>C (p.Ala677=) c.1733T>C (n.1733T>C) c.*1336T>C (n.*1336T>C) n.782T>C c.2112T>C (p.Ala704=) c.2025T>C (p.Ala675=) c.2133T>C (p.Ala711=) c.2130T>C (p.Ala710=) c.2049T>C (p.Ala683=) c.2046T>C (p.Ala682=) | |
X | g.20155506A>T | CA515613346 | RPS6KA3 | c.2115T>A (p.Ala705=) c.2028T>A (p.Ala676=) c.2031T>A (p.Ala677=) c.1733T>A (n.1733T>A) c.*1336T>A (n.*1336T>A) n.782T>A c.2112T>A (p.Ala704=) c.2025T>A (p.Ala675=) c.2133T>A (p.Ala711=) c.2130T>A (p.Ala710=) c.2049T>A (p.Ala683=) c.2046T>A (p.Ala682=) | COSMIC |
X | g.20155507G>A | CA412512141 | RPS6KA3 | c.2114C>T (p.Ala705Val) c.2027C>T (p.Ala676Val) c.2030C>T (p.Ala677Val) c.1732C>T (n.1732C>T) c.*1335C>T (n.*1335C>T) n.781C>T c.2111C>T (p.Ala704Val) c.2024C>T (p.Ala675Val) c.2132C>T (p.Ala711Val) c.2129C>T (p.Ala710Val) c.2048C>T (p.Ala683Val) c.2045C>T (p.Ala682Val) | |
X | g.20155507G>C | CA412512143 | RPS6KA3 | c.2114C>G (p.Ala705Gly) c.2027C>G (p.Ala676Gly) c.2030C>G (p.Ala677Gly) c.1732C>G (n.1732C>G) c.*1335C>G (n.*1335C>G) n.781C>G c.2111C>G (p.Ala704Gly) c.2024C>G (p.Ala675Gly) c.2132C>G (p.Ala711Gly) c.2129C>G (p.Ala710Gly) c.2048C>G (p.Ala683Gly) c.2045C>G (p.Ala682Gly) | |
X | g.20155507G>T | CA412512142 | RPS6KA3 | c.2114C>A (p.Ala705Asp) c.2027C>A (p.Ala676Asp) c.2030C>A (p.Ala677Asp) c.1732C>A (n.1732C>A) c.*1335C>A (n.*1335C>A) n.781C>A c.2111C>A (p.Ala704Asp) c.2024C>A (p.Ala675Asp) c.2132C>A (p.Ala711Asp) c.2129C>A (p.Ala710Asp) c.2048C>A (p.Ala683Asp) c.2045C>A (p.Ala682Asp) | |
X | g.20155508C>A | CA412512144 | RPS6KA3 | c.2113G>T (p.Ala705Ser) c.2026G>T (p.Ala676Ser) c.2029G>T (p.Ala677Ser) c.1731G>T (n.1731G>T) c.*1334G>T (n.*1334G>T) n.780G>T c.2110G>T (p.Ala704Ser) c.2023G>T (p.Ala675Ser) c.2131G>T (p.Ala711Ser) c.2128G>T (p.Ala710Ser) c.2047G>T (p.Ala683Ser) c.2044G>T (p.Ala682Ser) | |
X | g.20155508C>G | CA412512145 | RPS6KA3 | c.2113G>C (p.Ala705Pro) c.2026G>C (p.Ala676Pro) c.2029G>C (p.Ala677Pro) c.1731G>C (n.1731G>C) c.*1334G>C (n.*1334G>C) n.780G>C c.2110G>C (p.Ala704Pro) c.2023G>C (p.Ala675Pro) c.2131G>C (p.Ala711Pro) c.2128G>C (p.Ala710Pro) c.2047G>C (p.Ala683Pro) c.2044G>C (p.Ala682Pro) | |
X | g.20155508C>T | CA412512146 | RPS6KA3 | c.2113G>A (p.Ala705Thr) c.2026G>A (p.Ala676Thr) c.2029G>A (p.Ala677Thr) c.1731G>A (n.1731G>A) c.*1334G>A (n.*1334G>A) n.780G>A c.2110G>A (p.Ala704Thr) c.2023G>A (p.Ala675Thr) c.2131G>A (p.Ala711Thr) c.2128G>A (p.Ala710Thr) c.2047G>A (p.Ala683Thr) c.2044G>A (p.Ala682Thr) | |
X | g.20155509T>A | CA515613347 | RPS6KA3 | c.2112A>T (p.Ala704=) c.2025A>T (p.Ala675=) c.2028A>T (p.Ala676=) c.1730A>T (n.1730A>T) c.*1333A>T (n.*1333A>T) n.779A>T c.2109A>T (p.Ala703=) c.2022A>T (p.Ala674=) c.2130A>T (p.Ala710=) c.2127A>T (p.Ala709=) c.2046A>T (p.Ala682=) c.2043A>T (p.Ala681=) | |
X | g.20155509T>C | CA515613349 | RPS6KA3 | c.2112A>G (p.Ala704=) c.2025A>G (p.Ala675=) c.2028A>G (p.Ala676=) c.1730A>G (n.1730A>G) c.*1333A>G (n.*1333A>G) n.779A>G c.2109A>G (p.Ala703=) c.2022A>G (p.Ala674=) c.2130A>G (p.Ala710=) c.2127A>G (p.Ala709=) c.2046A>G (p.Ala682=) c.2043A>G (p.Ala681=) | |
X | g.20155509T>G | CA515613348 | RPS6KA3 | c.2112A>C (p.Ala704=) c.2025A>C (p.Ala675=) c.2028A>C (p.Ala676=) c.1730A>C (n.1730A>C) c.*1333A>C (n.*1333A>C) n.779A>C c.2109A>C (p.Ala703=) c.2022A>C (p.Ala674=) c.2130A>C (p.Ala710=) c.2127A>C (p.Ala709=) c.2046A>C (p.Ala682=) c.2043A>C (p.Ala681=) | |
X | g.20155510G>A | CA412512147 | RPS6KA3 | c.2111C>T (p.Ala704Val) c.2024C>T (p.Ala675Val) c.2027C>T (p.Ala676Val) c.1729C>T (n.1729C>T) c.*1332C>T (n.*1332C>T) n.778C>T c.2108C>T (p.Ala703Val) c.2021C>T (p.Ala674Val) c.2129C>T (p.Ala710Val) c.2126C>T (p.Ala709Val) c.2045C>T (p.Ala682Val) c.2042C>T (p.Ala681Val) | |
X | g.20155510G>C | CA412512148 | RPS6KA3 | c.2111C>G (p.Ala704Gly) c.2024C>G (p.Ala675Gly) c.2027C>G (p.Ala676Gly) c.1729C>G (n.1729C>G) c.*1332C>G (n.*1332C>G) n.778C>G c.2108C>G (p.Ala703Gly) c.2021C>G (p.Ala674Gly) c.2129C>G (p.Ala710Gly) c.2126C>G (p.Ala709Gly) c.2045C>G (p.Ala682Gly) c.2042C>G (p.Ala681Gly) | |
X | g.20155510G>T | CA412512149 | RPS6KA3 | c.2111C>A (p.Ala704Glu) c.2024C>A (p.Ala675Glu) c.2027C>A (p.Ala676Glu) c.1729C>A (n.1729C>A) c.*1332C>A (n.*1332C>A) n.778C>A c.2108C>A (p.Ala703Glu) c.2021C>A (p.Ala674Glu) c.2129C>A (p.Ala710Glu) c.2126C>A (p.Ala709Glu) c.2045C>A (p.Ala682Glu) c.2042C>A (p.Ala681Glu) | gnomAD v4 |
X | g.20155511C>A | CA412512152 | RPS6KA3 | c.2110G>T (p.Ala704Ser) c.2023G>T (p.Ala675Ser) c.2026G>T (p.Ala676Ser) c.1728G>T (n.1728G>T) c.*1331G>T (n.*1331G>T) n.777G>T c.2107G>T (p.Ala703Ser) c.2020G>T (p.Ala674Ser) c.2128G>T (p.Ala710Ser) c.2125G>T (p.Ala709Ser) c.2044G>T (p.Ala682Ser) c.2041G>T (p.Ala681Ser) | |
X | g.20155511C>G | CA412512151 | RPS6KA3 | c.2110G>C (p.Ala704Pro) c.2023G>C (p.Ala675Pro) c.2026G>C (p.Ala676Pro) c.1728G>C (n.1728G>C) c.*1331G>C (n.*1331G>C) n.777G>C c.2107G>C (p.Ala703Pro) c.2020G>C (p.Ala674Pro) c.2128G>C (p.Ala710Pro) c.2125G>C (p.Ala709Pro) c.2044G>C (p.Ala682Pro) c.2041G>C (p.Ala681Pro) | |
X | g.20155511C>T | CA412512150 | RPS6KA3 | c.2110G>A (p.Ala704Thr) c.2023G>A (p.Ala675Thr) c.2026G>A (p.Ala676Thr) c.1728G>A (n.1728G>A) c.*1331G>A (n.*1331G>A) n.777G>A c.2107G>A (p.Ala703Thr) c.2020G>A (p.Ala674Thr) c.2128G>A (p.Ala710Thr) c.2125G>A (p.Ala709Thr) c.2044G>A (p.Ala682Thr) c.2041G>A (p.Ala681Thr) | |
X | g.20155513_20155520del | CA645601234 | RPS6KA3 | c.2103_2110del (p.Ala702SerfsTer9) c.2016_2023del (p.Ala673SerfsTer9) c.2019_2026del (p.Ala674SerfsTer9) c.1721_1728del (n.1721_1728del) c.*1324_*1331del (n.*1324_*1331del) n.770_777del c.2100_2107del (p.Ala701SerfsTer9) c.2013_2020del (p.Ala672SerfsTer9) c.2121_2128del (p.Ala708SerfsTer9) c.2118_2125del (p.Ala707SerfsTer9) c.2037_2044del (p.Ala680SerfsTer9) c.2034_2041del (p.Ala679SerfsTer9) | COSMIC |
X | g.20155512C>A | CA412512153 | RPS6KA3 | c.2109G>T (p.Met703Ile) c.2022G>T (p.Met674Ile) c.2025G>T (p.Met675Ile) c.1727G>T (n.1727G>T) c.*1330G>T (n.*1330G>T) n.776G>T c.2106G>T (p.Met702Ile) c.2019G>T (p.Met673Ile) c.2127G>T (p.Met709Ile) c.2124G>T (p.Met708Ile) c.2043G>T (p.Met681Ile) c.2040G>T (p.Met680Ile) | |
X | g.20155512C>G | CA412512154 | RPS6KA3 | c.2109G>C (p.Met703Ile) c.2022G>C (p.Met674Ile) c.2025G>C (p.Met675Ile) c.1727G>C (n.1727G>C) c.*1330G>C (n.*1330G>C) n.776G>C c.2106G>C (p.Met702Ile) c.2019G>C (p.Met673Ile) c.2127G>C (p.Met709Ile) c.2124G>C (p.Met708Ile) c.2043G>C (p.Met681Ile) c.2040G>C (p.Met680Ile) | |
X | g.20155512C>T | CA412512155 | RPS6KA3 | c.2109G>A (p.Met703Ile) c.2022G>A (p.Met674Ile) c.2025G>A (p.Met675Ile) c.1727G>A (n.1727G>A) c.*1330G>A (n.*1330G>A) n.776G>A c.2106G>A (p.Met702Ile) c.2019G>A (p.Met673Ile) c.2127G>A (p.Met709Ile) c.2124G>A (p.Met708Ile) c.2043G>A (p.Met681Ile) c.2040G>A (p.Met680Ile) | |
X | g.20155513A>C | CA412512156 | RPS6KA3 | c.2108T>G (p.Met703Arg) c.2021T>G (p.Met674Arg) c.2024T>G (p.Met675Arg) c.1726T>G (n.1726T>G) c.*1329T>G (n.*1329T>G) n.775T>G c.2105T>G (p.Met702Arg) c.2018T>G (p.Met673Arg) c.2126T>G (p.Met709Arg) c.2123T>G (p.Met708Arg) c.2042T>G (p.Met681Arg) c.2039T>G (p.Met680Arg) | |
X | g.20155513A>G | CA412512157 | RPS6KA3 | c.2108T>C (p.Met703Thr) c.2021T>C (p.Met674Thr) c.2024T>C (p.Met675Thr) c.1726T>C (n.1726T>C) c.*1329T>C (n.*1329T>C) n.775T>C c.2105T>C (p.Met702Thr) c.2018T>C (p.Met673Thr) c.2126T>C (p.Met709Thr) c.2123T>C (p.Met708Thr) c.2042T>C (p.Met681Thr) c.2039T>C (p.Met680Thr) | |
X | g.20155513A>T | CA412512158 | RPS6KA3 | c.2108T>A (p.Met703Lys) c.2021T>A (p.Met674Lys) c.2024T>A (p.Met675Lys) c.1726T>A (n.1726T>A) c.*1329T>A (n.*1329T>A) n.775T>A c.2105T>A (p.Met702Lys) c.2018T>A (p.Met673Lys) c.2126T>A (p.Met709Lys) c.2123T>A (p.Met708Lys) c.2042T>A (p.Met681Lys) c.2039T>A (p.Met680Lys) |