| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.20155353del | CA2579569019 | RPS6KA3 | c.*45del (n.*45del) c.1886del (n.1886del) c.*1489del (n.*1489del) c.2268del (n.2268del) c.2209+77del (n.2209+77del) | |
| X | g.20155353G>T | CA2693275622 | RPS6KA3 | c.*45C>A (n.*45C>A) c.1886C>A (n.1886C>A) c.*1489C>A (n.*1489C>A) c.2268C>A (n.2268C>A) c.2209+77C>A (n.2209+77C>A) | gnomAD v4 |
| X | g.20155355T>C | CA2693275623 | RPS6KA3 | c.*43A>G (n.*43A>G) c.1884A>G (n.1884A>G) c.*1487A>G (n.*1487A>G) c.2266A>G (n.2266A>G) c.2209+75A>G (n.2209+75A>G) | gnomAD v4 |
| X | g.20155358C= | CA2418502942 | RPS6KA3 | c.*40G= (n.*40G=) c.1881G= (n.1881G=) c.*1484G= (n.*1484G=) c.2263G= (n.2263G=) c.2209+72G= (n.2209+72G=) | |
| X | g.20155358_20155359insT | CA640848014 | RPS6KA3 | c.*39_*40insA (n.*39_*40insA) c.1880_1881insA (n.1880_1881insA) c.*1483_*1484insA (n.*1483_*1484insA) c.2262_2263insA (n.2262_2263insA) c.2209+71_2209+72insA (n.2209+71_2209+72insA) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.20155359A>G | CA2693275624 | RPS6KA3 | c.*39T>C (n.*39T>C) c.1880T>C (n.1880T>C) c.*1483T>C (n.*1483T>C) c.2262T>C (n.2262T>C) c.2209+71T>C (n.2209+71T>C) | gnomAD v4 |
| X | g.20155360G>A | CA2579569020 | RPS6KA3 | c.*38C>T (n.*38C>T) c.1879C>T (n.1879C>T) c.*1482C>T (n.*1482C>T) c.2261C>T (n.2261C>T) c.2209+70C>T (n.2209+70C>T) | |
| X | g.20155360_20155361insA | CA657742682 | RPS6KA3 | c.*37_*38insT (n.*37_*38insT) c.1878_1879insT (n.1878_1879insT) c.*1481_*1482insT (n.*1481_*1482insT) c.2260_2261insT (n.2260_2261insT) c.2209+69_2209+70insT (n.2209+69_2209+70insT) | COSMIC |
| X | g.20155362T>C | CA2693275627 | RPS6KA3 | c.*36A>G (n.*36A>G) c.1877A>G (n.1877A>G) c.*1480A>G (n.*1480A>G) c.2259A>G (n.2259A>G) c.2209+68A>G (n.2209+68A>G) | gnomAD v4 |
| X | g.20155365C>T | CA2819943468 | RPS6KA3 | c.*33G>A (n.*33G>A) c.1874G>A (n.1874G>A) c.*1477G>A (n.*1477G>A) c.2256G>A (n.2256G>A) c.2209+65G>A (n.2209+65G>A) | |
| X | g.20155366A>G | CA2693275629 | RPS6KA3 | c.*32T>C (n.*32T>C) c.1873T>C (n.1873T>C) c.*1476T>C (n.*1476T>C) c.2255T>C (n.2255T>C) c.2209+64T>C (n.2209+64T>C) | gnomAD v4 |
| X | g.20155367C= | CA2418502943 | RPS6KA3 | c.*31G= (n.*31G=) c.1872G= (n.1872G=) c.*1475G= (n.*1475G=) c.2254G= (n.2254G=) c.2209+63G= (n.2209+63G=) | |
| X | g.20155367C>G | CA2693275632 | RPS6KA3 | c.*31G>C (n.*31G>C) c.1872G>C (n.1872G>C) c.*1475G>C (n.*1475G>C) c.2254G>C (n.2254G>C) c.2209+63G>C (n.2209+63G>C) | gnomAD v4 |
| X | g.20155367C>T | CA10366022 | RPS6KA3 | c.*31G>A (n.*31G>A) c.1872G>A (n.1872G>A) c.*1475G>A (n.*1475G>A) c.2254G>A (n.2254G>A) c.2209+63G>A (n.2209+63G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.20155369A>G | CA2693275634 | RPS6KA3 | c.*29T>C (n.*29T>C) c.1870T>C (n.1870T>C) c.*1473T>C (n.*1473T>C) c.2252T>C (n.2252T>C) c.2209+61T>C (n.2209+61T>C) | gnomAD v4 |
| X | g.20155369A>T | CA2693275635 | RPS6KA3 | c.*29T>A (n.*29T>A) c.1870T>A (n.1870T>A) c.*1473T>A (n.*1473T>A) c.2252T>A (n.2252T>A) c.2209+61T>A (n.2209+61T>A) | gnomAD v4 |
| X | g.20155370T>C | CA2591862602 | RPS6KA3 | c.*28A>G (n.*28A>G) c.1869A>G (n.1869A>G) c.*1472A>G (n.*1472A>G) c.2251A>G (n.2251A>G) c.2209+60A>G (n.2209+60A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.20155372G>A | CA2418502945 | RPS6KA3 | c.*26C>T (n.*26C>T) c.1867C>T (n.1867C>T) c.*1470C>T (n.*1470C>T) c.2249C>T (n.2249C>T) c.2209+58C>T (n.2209+58C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.20155372G= | CA2418502944 | RPS6KA3 | c.*26C= (n.*26C=) c.1867C= (n.1867C=) c.*1470C= (n.*1470C=) c.2249C= (n.2249C=) c.2209+58C= (n.2209+58C=) | |
| X | g.20155372G>T | CA2693275636 | RPS6KA3 | c.*26C>A (n.*26C>A) c.1867C>A (n.1867C>A) c.*1470C>A (n.*1470C>A) c.2249C>A (n.2249C>A) c.2209+58C>A (n.2209+58C>A) | gnomAD v4 |
| X | g.20155374A>T | CA2579569021 | RPS6KA3 | c.*24T>A (n.*24T>A) c.1865T>A (n.1865T>A) c.*1468T>A (n.*1468T>A) c.2247T>A (n.2247T>A) c.2209+56T>A (n.2209+56T>A) | |
| X | g.20155376C= | CA2418502946 | RPS6KA3 | c.*22G= (n.*22G=) c.1863G= (n.1863G=) c.*1466G= (n.*1466G=) c.2245G= (n.2245G=) c.2209+54G= (n.2209+54G=) | |
| X | g.20155376C>T | CA10366023 | RPS6KA3 | c.*22G>A (n.*22G>A) c.1863G>A (n.1863G>A) c.*1466G>A (n.*1466G>A) c.2245G>A (n.2245G>A) c.2209+54G>A (n.2209+54G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.20155379dup | CA640848018 | RPS6KA3 | c.*21dup (n.*21dup) c.1862dup (n.1862dup) c.*1465dup (n.*1465dup) c.2244dup (n.2244dup) c.2209+53dup (n.2209+53dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.20155379A>C | CA2693275639 | RPS6KA3 | c.*19T>G (n.*19T>G) c.1860T>G (n.1860T>G) c.*1463T>G (n.*1463T>G) c.2242T>G (n.2242T>G) c.2209+51T>G (n.2209+51T>G) | gnomAD v4 |
| X | g.20155381A>G | CA2693275641 | RPS6KA3 | c.*17T>C (n.*17T>C) c.1858T>C (n.1858T>C) c.*1461T>C (n.*1461T>C) c.2240T>C (n.2240T>C) c.2209+49T>C (n.2209+49T>C) | gnomAD v4 |
| X | g.20155382T>C | CA640848019 | RPS6KA3 | c.*16A>G (n.*16A>G) c.1857A>G (n.1857A>G) c.*1460A>G (n.*1460A>G) c.2239A>G (n.2239A>G) c.2209+48A>G (n.2209+48A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.20155382T>G | CA2693275642 | RPS6KA3 | c.*16A>C (n.*16A>C) c.1857A>C (n.1857A>C) c.*1460A>C (n.*1460A>C) c.2239A>C (n.2239A>C) c.2209+48A>C (n.2209+48A>C) | gnomAD v4 |
| X | g.20155382T= | CA2418502947 | RPS6KA3 | c.*16A= (n.*16A=) c.1857A= (n.1857A=) c.*1460A= (n.*1460A=) c.2239A= (n.2239A=) c.2209+48A= (n.2209+48A=) | |
| X | g.20155384_20155385del | CA2579569022 | RPS6KA3 | c.*15_*16del (n.*15_*16del) c.1856_1857del (n.1856_1857del) c.*1459_*1460del (n.*1459_*1460del) c.2238_2239del (n.2238_2239del) c.2209+47_2209+48del (n.2209+47_2209+48del) | |
| X | g.20155383C>A | CA2693275644 | RPS6KA3 | c.*15G>T (n.*15G>T) c.1856G>T (n.1856G>T) c.*1459G>T (n.*1459G>T) c.2238G>T (n.2238G>T) c.2209+47G>T (n.2209+47G>T) | gnomAD v4 |
| X | g.20155384T>C | CA873787058 | RPS6KA3 | c.*14A>G (n.*14A>G) c.1855A>G (n.1855A>G) c.*1458A>G (n.*1458A>G) c.2237A>G (n.2237A>G) c.2209+46A>G (n.2209+46A>G) | dbSNP |
| X | g.20155384T>G | CA2693275646 | RPS6KA3 | c.*14A>C (n.*14A>C) c.1855A>C (n.1855A>C) c.*1458A>C (n.*1458A>C) c.2237A>C (n.2237A>C) c.2209+46A>C (n.2209+46A>C) | gnomAD v4 |
| X | g.20155384T= | CA2418502948 | RPS6KA3 | c.*14A= (n.*14A=) c.1855A= (n.1855A=) c.*1458A= (n.*1458A=) c.2237A= (n.2237A=) c.2209+46A= (n.2209+46A=) | |
| X | g.20155385C>G | CA2541314004 | RPS6KA3 | c.*13G>C (n.*13G>C) c.1854G>C (n.1854G>C) c.*1457G>C (n.*1457G>C) c.2236G>C (n.2236G>C) c.2209+45G>C (n.2209+45G>C) | |
| X | g.20155386A>C | CA1131481769 | RPS6KA3 | c.*12T>G (n.*12T>G) c.1853T>G (n.1853T>G) c.*1456T>G (n.*1456T>G) c.2235T>G (n.2235T>G) c.2209+44T>G (n.2209+44T>G) | gnomAD v3 gnomAD v4 |
| X | g.20155386A>G | CA2521870090 | RPS6KA3 | c.*12T>C (n.*12T>C) c.1853T>C (n.1853T>C) c.*1456T>C (n.*1456T>C) c.2235T>C (n.2235T>C) c.2209+44T>C (n.2209+44T>C) | |
| X | g.20155387C>T | CA2526569738 | RPS6KA3 | c.*11G>A (n.*11G>A) c.1852G>A (n.1852G>A) c.*1455G>A (n.*1455G>A) c.2234G>A (n.2234G>A) c.2209+43G>A (n.2209+43G>A) | |
| X | g.20155391G>A | CA10366024 | RPS6KA3 | c.*7C>T (n.*7C>T) c.1848C>T (n.1848C>T) c.*1451C>T (n.*1451C>T) c.2230C>T (n.2230C>T) c.2209+39C>T (n.2209+39C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.20155391G= | CA2418502949 | RPS6KA3 | c.*7C= (n.*7C=) c.1848C= (n.1848C=) c.*1451C= (n.*1451C=) c.2230C= (n.2230C=) c.2209+39C= (n.2209+39C=) | |
| X | g.20155393T>G | CA640848023 | RPS6KA3 | c.*5A>C (n.*5A>C) c.1846A>C (n.1846A>C) c.*1449A>C (n.*1449A>C) c.2228A>C (n.2228A>C) c.2209+37A>C (n.2209+37A>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.20155393T= | CA2418502950 | RPS6KA3 | c.*5A= (n.*5A=) c.1846A= (n.1846A=) c.*1449A= (n.*1449A=) c.2228A= (n.2228A=) c.2209+37A= (n.2209+37A=) | |
| X | g.20155396C>T | CA2693275654 | RPS6KA3 | c.*2G>A (n.*2G>A) c.1843G>A (n.1843G>A) c.*1446G>A (n.*1446G>A) c.2225G>A (n.2225G>A) c.2209+34G>A (n.2209+34G>A) | gnomAD v4 |
| X | g.20155397T>C | CA10366025 | RPS6KA3 | c.*1A>G (n.*1A>G) c.1842A>G (n.1842A>G) c.*1445A>G (n.*1445A>G) c.2224A>G (n.2224A>G) c.2209+33A>G (n.2209+33A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.20155397T= | CA2418502951 | RPS6KA3 | c.*1A= (n.*1A=) c.1842A= (n.1842A=) c.*1445A= (n.*1445A=) c.2224A= (n.2224A=) c.2209+33A= (n.2209+33A=) | |
| X | g.20155398T>A | CA412511541 | RPS6KA3 | c.2223A>T (p.Ter741Cys) c.2136A>T (p.Ter712Cys) c.2139A>T (p.Ter713Cys) c.1841A>T (n.1841A>T) c.*1444A>T (n.*1444A>T) c.2220A>T (p.Ter740Cys) c.2133A>T (p.Ter711Cys) c.2209+32A>T (n.2209+32A>T) c.2238A>T (p.Ter746Cys) c.2157A>T (p.Ter719Cys) c.2154A>T (p.Ter718Cys) | |
| X | g.20155398T>C | CA412511546 | RPS6KA3 | c.2223A>G (p.Ter741Trp) c.2136A>G (p.Ter712Trp) c.2139A>G (p.Ter713Trp) c.1841A>G (n.1841A>G) c.*1444A>G (n.*1444A>G) c.2220A>G (p.Ter740Trp) c.2133A>G (p.Ter711Trp) c.2209+32A>G (n.2209+32A>G) c.2238A>G (p.Ter746Trp) c.2157A>G (p.Ter719Trp) c.2154A>G (p.Ter718Trp) | |
| X | g.20155398T>G | CA412511544 | RPS6KA3 | c.2223A>C (p.Ter741Cys) c.2136A>C (p.Ter712Cys) c.2139A>C (p.Ter713Cys) c.1841A>C (n.1841A>C) c.*1444A>C (n.*1444A>C) c.2220A>C (p.Ter740Cys) c.2133A>C (p.Ter711Cys) c.2209+32A>C (n.2209+32A>C) c.2238A>C (p.Ter746Cys) c.2157A>C (p.Ter719Cys) c.2154A>C (p.Ter718Cys) | |
| X | g.20155399C>A | CA412511548 | RPS6KA3 | c.2222G>T (p.Ter741Leu) c.2135G>T (p.Ter712Leu) c.2138G>T (p.Ter713Leu) c.1840G>T (n.1840G>T) c.*1443G>T (n.*1443G>T) c.2219G>T (p.Ter740Leu) c.2132G>T (p.Ter711Leu) c.2209+31G>T (n.2209+31G>T) c.2237G>T (p.Ter746Leu) c.2156G>T (p.Ter719Leu) c.2153G>T (p.Ter718Leu) | |
| X | g.20155399C>G | CA412511552 | RPS6KA3 | c.2222G>C (p.Ter741Ser) c.2135G>C (p.Ter712Ser) c.2138G>C (p.Ter713Ser) c.1840G>C (n.1840G>C) c.*1443G>C (n.*1443G>C) c.2219G>C (p.Ter740Ser) c.2132G>C (p.Ter711Ser) c.2209+31G>C (n.2209+31G>C) c.2237G>C (p.Ter746Ser) c.2156G>C (p.Ter719Ser) c.2153G>C (p.Ter718Ser) | |
| X | g.20155399C>T | CA515613257 | RPS6KA3 | c.2222G>A (p.Ter741=) c.2135G>A (p.Ter712=) c.2138G>A (p.Ter713=) c.1840G>A (n.1840G>A) c.*1443G>A (n.*1443G>A) c.2219G>A (p.Ter740=) c.2132G>A (p.Ter711=) c.2209+31G>A (n.2209+31G>A) c.2237G>A (p.Ter746=) c.2156G>A (p.Ter719=) c.2153G>A (p.Ter718=) | dbSNP gnomAD v4 |
| X | g.20155400A>C | CA412511555 | RPS6KA3 | c.2221T>G (p.Ter741Gly) c.2134T>G (p.Ter712Gly) c.2137T>G (p.Ter713Gly) c.1839T>G (n.1839T>G) c.*1442T>G (n.*1442T>G) c.2218T>G (p.Ter740Gly) c.2131T>G (p.Ter711Gly) c.2209+30T>G (n.2209+30T>G) c.2236T>G (p.Ter746Gly) c.2155T>G (p.Ter719Gly) c.2152T>G (p.Ter718Gly) | |
| X | g.20155400A>G | CA412511562 | RPS6KA3 | c.2221T>C (p.Ter741Arg) c.2134T>C (p.Ter712Arg) c.2137T>C (p.Ter713Arg) c.1839T>C (n.1839T>C) c.*1442T>C (n.*1442T>C) c.2218T>C (p.Ter740Arg) c.2131T>C (p.Ter711Arg) c.2209+30T>C (n.2209+30T>C) c.2236T>C (p.Ter746Arg) c.2155T>C (p.Ter719Arg) c.2152T>C (p.Ter718Arg) | |
| X | g.20155400A>T | CA412511564 | RPS6KA3 | c.2221T>A (p.Ter741Arg) c.2134T>A (p.Ter712Arg) c.2137T>A (p.Ter713Arg) c.1839T>A (n.1839T>A) c.*1442T>A (n.*1442T>A) c.2218T>A (p.Ter740Arg) c.2131T>A (p.Ter711Arg) c.2209+30T>A (n.2209+30T>A) c.2236T>A (p.Ter746Arg) c.2155T>A (p.Ter719Arg) c.2152T>A (p.Ter718Arg) | |
| X | g.20155401C>A | CA515613258 | RPS6KA3 | c.2220G>T (p.Leu740=) c.2133G>T (p.Leu711=) c.2136G>T (p.Leu712=) c.1838G>T (n.1838G>T) c.*1441G>T (n.*1441G>T) c.2217G>T (p.Leu739=) c.2130G>T (p.Leu710=) c.2209+29G>T (n.2209+29G>T) c.2235G>T (p.Leu745=) c.2154G>T (p.Leu718=) c.2151G>T (p.Leu717=) | |
| X | g.20155401C>G | CA515613259 | RPS6KA3 | c.2220G>C (p.Leu740=) c.2133G>C (p.Leu711=) c.2136G>C (p.Leu712=) c.1838G>C (n.1838G>C) c.*1441G>C (n.*1441G>C) c.2217G>C (p.Leu739=) c.2130G>C (p.Leu710=) c.2209+29G>C (n.2209+29G>C) c.2235G>C (p.Leu745=) c.2154G>C (p.Leu718=) c.2151G>C (p.Leu717=) | |
| X | g.20155401C>T | CA515613260 | RPS6KA3 | c.2220G>A (p.Leu740=) c.2133G>A (p.Leu711=) c.2136G>A (p.Leu712=) c.1838G>A (n.1838G>A) c.*1441G>A (n.*1441G>A) c.2217G>A (p.Leu739=) c.2130G>A (p.Leu710=) c.2209+29G>A (n.2209+29G>A) c.2235G>A (p.Leu745=) c.2154G>A (p.Leu718=) c.2151G>A (p.Leu717=) | |
| X | g.20155402A>C | CA412511566 | RPS6KA3 | c.2219T>G (p.Leu740Arg) c.2132T>G (p.Leu711Arg) c.2135T>G (p.Leu712Arg) c.1837T>G (n.1837T>G) c.*1440T>G (n.*1440T>G) c.2216T>G (p.Leu739Arg) c.2129T>G (p.Leu710Arg) c.2209+28T>G (n.2209+28T>G) c.2234T>G (p.Leu745Arg) c.2153T>G (p.Leu718Arg) c.2150T>G (p.Leu717Arg) | |
| X | g.20155402A>G | CA412511570 | RPS6KA3 | c.2219T>C (p.Leu740Pro) c.2132T>C (p.Leu711Pro) c.2135T>C (p.Leu712Pro) c.1837T>C (n.1837T>C) c.*1440T>C (n.*1440T>C) c.2216T>C (p.Leu739Pro) c.2129T>C (p.Leu710Pro) c.2209+28T>C (n.2209+28T>C) c.2234T>C (p.Leu745Pro) c.2153T>C (p.Leu718Pro) c.2150T>C (p.Leu717Pro) | |
| X | g.20155402A>T | CA412511575 | RPS6KA3 | c.2219T>A (p.Leu740Gln) c.2132T>A (p.Leu711Gln) c.2135T>A (p.Leu712Gln) c.1837T>A (n.1837T>A) c.*1440T>A (n.*1440T>A) c.2216T>A (p.Leu739Gln) c.2129T>A (p.Leu710Gln) c.2209+28T>A (n.2209+28T>A) c.2234T>A (p.Leu745Gln) c.2153T>A (p.Leu718Gln) c.2150T>A (p.Leu717Gln) | |
| X | g.20155403G>A | CA515613261 | RPS6KA3 | c.2218C>T (p.Leu740=) c.2131C>T (p.Leu711=) c.2134C>T (p.Leu712=) c.1836C>T (n.1836C>T) c.*1439C>T (n.*1439C>T) c.2215C>T (p.Leu739=) c.2128C>T (p.Leu710=) c.2209+27C>T (n.2209+27C>T) c.2233C>T (p.Leu745=) c.2152C>T (p.Leu718=) c.2149C>T (p.Leu717=) | dbSNP |
| X | g.20155403G>C | CA412511578 | RPS6KA3 | c.2218C>G (p.Leu740Val) c.2131C>G (p.Leu711Val) c.2134C>G (p.Leu712Val) c.1836C>G (n.1836C>G) c.*1439C>G (n.*1439C>G) c.2215C>G (p.Leu739Val) c.2128C>G (p.Leu710Val) c.2209+27C>G (n.2209+27C>G) c.2233C>G (p.Leu745Val) c.2152C>G (p.Leu718Val) c.2149C>G (p.Leu717Val) | |
| X | g.20155403G= | CA2418502952 | RPS6KA3 | c.2218C= (p.Leu740=) c.2131C= (p.Leu711=) c.2134C= (p.Leu712=) c.1836C= (n.1836C=) c.*1439C= (n.*1439C=) c.2215C= (p.Leu739=) c.2128C= (p.Leu710=) c.2209+27C= (n.2209+27C=) c.2233C= (p.Leu745=) c.2152C= (p.Leu718=) c.2149C= (p.Leu717=) | |
| X | g.20155403G>T | CA412511581 | RPS6KA3 | c.2218C>A (p.Leu740Met) c.2131C>A (p.Leu711Met) c.2134C>A (p.Leu712Met) c.1836C>A (n.1836C>A) c.*1439C>A (n.*1439C>A) c.2215C>A (p.Leu739Met) c.2128C>A (p.Leu710Met) c.2209+27C>A (n.2209+27C>A) c.2233C>A (p.Leu745Met) c.2152C>A (p.Leu718Met) c.2149C>A (p.Leu717Met) | |
| X | g.20155404G>A | CA515613263 | RPS6KA3 | c.2217C>T (p.Ala739=) c.2130C>T (p.Ala710=) c.2133C>T (p.Ala711=) c.1835C>T (n.1835C>T) c.*1438C>T (n.*1438C>T) c.2214C>T (p.Ala738=) c.2127C>T (p.Ala709=) c.2209+26C>T (n.2209+26C>T) c.2232C>T (p.Ala744=) c.2151C>T (p.Ala717=) c.2148C>T (p.Ala716=) | |
| X | g.20155404G>C | CA515613264 | RPS6KA3 | c.2217C>G (p.Ala739=) c.2130C>G (p.Ala710=) c.2133C>G (p.Ala711=) c.1835C>G (n.1835C>G) c.*1438C>G (n.*1438C>G) c.2214C>G (p.Ala738=) c.2127C>G (p.Ala709=) c.2209+26C>G (n.2209+26C>G) c.2232C>G (p.Ala744=) c.2151C>G (p.Ala717=) c.2148C>G (p.Ala716=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.20155404G= | CA2418502953 | RPS6KA3 | c.2217C= (p.Ala739=) c.2130C= (p.Ala710=) c.2133C= (p.Ala711=) c.1835C= (n.1835C=) c.*1438C= (n.*1438C=) c.2214C= (p.Ala738=) c.2127C= (p.Ala709=) c.2209+26C= (n.2209+26C=) c.2232C= (p.Ala744=) c.2151C= (p.Ala717=) c.2148C= (p.Ala716=) | |
| X | g.20155404G>T | CA515613265 | RPS6KA3 | c.2217C>A (p.Ala739=) c.2130C>A (p.Ala710=) c.2133C>A (p.Ala711=) c.1835C>A (n.1835C>A) c.*1438C>A (n.*1438C>A) c.2214C>A (p.Ala738=) c.2127C>A (p.Ala709=) c.2209+26C>A (n.2209+26C>A) c.2232C>A (p.Ala744=) c.2151C>A (p.Ala717=) c.2148C>A (p.Ala716=) | |
| X | g.20155405G>A | CA412511587 | RPS6KA3 | c.2216C>T (p.Ala739Val) c.2129C>T (p.Ala710Val) c.2132C>T (p.Ala711Val) c.1834C>T (n.1834C>T) c.*1437C>T (n.*1437C>T) c.2213C>T (p.Ala738Val) c.2126C>T (p.Ala709Val) c.2209+25C>T (n.2209+25C>T) c.2231C>T (p.Ala744Val) c.2150C>T (p.Ala717Val) c.2147C>T (p.Ala716Val) | |
| X | g.20155405G>C | CA412511589 | RPS6KA3 | c.2216C>G (p.Ala739Gly) c.2129C>G (p.Ala710Gly) c.2132C>G (p.Ala711Gly) c.1834C>G (n.1834C>G) c.*1437C>G (n.*1437C>G) c.2213C>G (p.Ala738Gly) c.2126C>G (p.Ala709Gly) c.2209+25C>G (n.2209+25C>G) c.2231C>G (p.Ala744Gly) c.2150C>G (p.Ala717Gly) c.2147C>G (p.Ala716Gly) | |
| X | g.20155405G>T | CA412511584 | RPS6KA3 | c.2216C>A (p.Ala739Asp) c.2129C>A (p.Ala710Asp) c.2132C>A (p.Ala711Asp) c.1834C>A (n.1834C>A) c.*1437C>A (n.*1437C>A) c.2213C>A (p.Ala738Asp) c.2126C>A (p.Ala709Asp) c.2209+25C>A (n.2209+25C>A) c.2231C>A (p.Ala744Asp) c.2150C>A (p.Ala717Asp) c.2147C>A (p.Ala716Asp) | |
| X | g.20155406C>A | CA412511592 | RPS6KA3 | c.2215G>T (p.Ala739Ser) c.2128G>T (p.Ala710Ser) c.2131G>T (p.Ala711Ser) c.1833G>T (n.1833G>T) c.*1436G>T (n.*1436G>T) c.2212G>T (p.Ala738Ser) c.2125G>T (p.Ala709Ser) c.2209+24G>T (n.2209+24G>T) c.2230G>T (p.Ala744Ser) c.2149G>T (p.Ala717Ser) c.2146G>T (p.Ala716Ser) | |
| X | g.20155406C>G | CA412511605 | RPS6KA3 | c.2215G>C (p.Ala739Pro) c.2128G>C (p.Ala710Pro) c.2131G>C (p.Ala711Pro) c.1833G>C (n.1833G>C) c.*1436G>C (n.*1436G>C) c.2212G>C (p.Ala738Pro) c.2125G>C (p.Ala709Pro) c.2209+24G>C (n.2209+24G>C) c.2230G>C (p.Ala744Pro) c.2149G>C (p.Ala717Pro) c.2146G>C (p.Ala716Pro) | |
| X | g.20155406C>T | CA412511608 | RPS6KA3 | c.2215G>A (p.Ala739Thr) c.2128G>A (p.Ala710Thr) c.2131G>A (p.Ala711Thr) c.1833G>A (n.1833G>A) c.*1436G>A (n.*1436G>A) c.2212G>A (p.Ala738Thr) c.2125G>A (p.Ala709Thr) c.2209+24G>A (n.2209+24G>A) c.2230G>A (p.Ala744Thr) c.2149G>A (p.Ala717Thr) c.2146G>A (p.Ala716Thr) | |
| X | g.20155407T>A | CA515613266 | RPS6KA3 | c.2214A>T (p.Thr738=) c.2127A>T (p.Thr709=) c.2130A>T (p.Thr710=) c.1832A>T (n.1832A>T) c.*1435A>T (n.*1435A>T) c.2211A>T (p.Thr737=) c.2124A>T (p.Thr708=) c.2209+23A>T (n.2209+23A>T) c.2229A>T (p.Thr743=) c.2148A>T (p.Thr716=) c.2145A>T (p.Thr715=) | |
| X | g.20155407T>C | CA515613267 | RPS6KA3 | c.2214A>G (p.Thr738=) c.2127A>G (p.Thr709=) c.2130A>G (p.Thr710=) c.1832A>G (n.1832A>G) c.*1435A>G (n.*1435A>G) c.2211A>G (p.Thr737=) c.2124A>G (p.Thr708=) c.2209+23A>G (n.2209+23A>G) c.2229A>G (p.Thr743=) c.2148A>G (p.Thr716=) c.2145A>G (p.Thr715=) | |
| X | g.20155407T>G | CA515613268 | RPS6KA3 | c.2214A>C (p.Thr738=) c.2127A>C (p.Thr709=) c.2130A>C (p.Thr710=) c.1832A>C (n.1832A>C) c.*1435A>C (n.*1435A>C) c.2211A>C (p.Thr737=) c.2124A>C (p.Thr708=) c.2209+23A>C (n.2209+23A>C) c.2229A>C (p.Thr743=) c.2148A>C (p.Thr716=) c.2145A>C (p.Thr715=) | |
| X | g.20155408G>A | CA412511613 | RPS6KA3 | c.2213C>T (p.Thr738Ile) c.2126C>T (p.Thr709Ile) c.2129C>T (p.Thr710Ile) c.1831C>T (n.1831C>T) c.*1434C>T (n.*1434C>T) c.2210C>T (p.Thr737Ile) c.2123C>T (p.Thr708Ile) c.2209+22C>T (n.2209+22C>T) c.2228C>T (p.Thr743Ile) c.2147C>T (p.Thr716Ile) c.2144C>T (p.Thr715Ile) | |
| X | g.20155408G>C | CA412511622 | RPS6KA3 | c.2213C>G (p.Thr738Arg) c.2126C>G (p.Thr709Arg) c.2129C>G (p.Thr710Arg) c.1831C>G (n.1831C>G) c.*1434C>G (n.*1434C>G) c.2210C>G (p.Thr737Arg) c.2123C>G (p.Thr708Arg) c.2209+22C>G (n.2209+22C>G) c.2228C>G (p.Thr743Arg) c.2147C>G (p.Thr716Arg) c.2144C>G (p.Thr715Arg) | |
| X | g.20155408G>T | CA412511624 | RPS6KA3 | c.2213C>A (p.Thr738Lys) c.2126C>A (p.Thr709Lys) c.2129C>A (p.Thr710Lys) c.1831C>A (n.1831C>A) c.*1434C>A (n.*1434C>A) c.2210C>A (p.Thr737Lys) c.2123C>A (p.Thr708Lys) c.2209+22C>A (n.2209+22C>A) c.2228C>A (p.Thr743Lys) c.2147C>A (p.Thr716Lys) c.2144C>A (p.Thr715Lys) | |
| X | g.20155409T>A | CA412511627 | RPS6KA3 | c.2212A>T (p.Thr738Ser) c.2125A>T (p.Thr709Ser) c.2128A>T (p.Thr710Ser) c.1830A>T (n.1830A>T) c.*1433A>T (n.*1433A>T) c.2209A>T (p.Thr737Ser) c.2122A>T (p.Thr708Ser) c.2209+21A>T (n.2209+21A>T) c.2227A>T (p.Thr743Ser) c.2146A>T (p.Thr716Ser) c.2143A>T (p.Thr715Ser) | |
| X | g.20155409T>C | CA412511630 | RPS6KA3 | c.2212A>G (p.Thr738Ala) c.2125A>G (p.Thr709Ala) c.2128A>G (p.Thr710Ala) c.1830A>G (n.1830A>G) c.*1433A>G (n.*1433A>G) c.2209A>G (p.Thr737Ala) c.2122A>G (p.Thr708Ala) c.2209+21A>G (n.2209+21A>G) c.2227A>G (p.Thr743Ala) c.2146A>G (p.Thr716Ala) c.2143A>G (p.Thr715Ala) | |
| X | g.20155409T>G | CA412511632 | RPS6KA3 | c.2212A>C (p.Thr738Pro) c.2125A>C (p.Thr709Pro) c.2128A>C (p.Thr710Pro) c.1830A>C (n.1830A>C) c.*1433A>C (n.*1433A>C) c.2209A>C (p.Thr737Pro) c.2122A>C (p.Thr708Pro) c.2209+21A>C (n.2209+21A>C) c.2227A>C (p.Thr743Pro) c.2146A>C (p.Thr716Pro) c.2143A>C (p.Thr715Pro) | |
| X | g.20155410T>A | CA515613269 | RPS6KA3 | c.2211A>T (p.Ser737=) c.2124A>T (p.Ser708=) c.2127A>T (p.Ser709=) c.1829A>T (n.1829A>T) c.*1432A>T (n.*1432A>T) c.2208A>T (p.Ser736=) c.2121A>T (p.Ser707=) c.2209+20A>T (n.2209+20A>T) c.2226A>T (p.Ser742=) c.2145A>T (p.Ser715=) c.2142A>T (p.Ser714=) | |
| X | g.20155410T>C | CA515613271 | RPS6KA3 | c.2211A>G (p.Ser737=) c.2124A>G (p.Ser708=) c.2127A>G (p.Ser709=) c.1829A>G (n.1829A>G) c.*1432A>G (n.*1432A>G) c.2208A>G (p.Ser736=) c.2121A>G (p.Ser707=) c.2209+20A>G (n.2209+20A>G) c.2226A>G (p.Ser742=) c.2145A>G (p.Ser715=) c.2142A>G (p.Ser714=) | |
| X | g.20155410T>G | CA515613270 | RPS6KA3 | c.2211A>C (p.Ser737=) c.2124A>C (p.Ser708=) c.2127A>C (p.Ser709=) c.1829A>C (n.1829A>C) c.*1432A>C (n.*1432A>C) c.2208A>C (p.Ser736=) c.2121A>C (p.Ser707=) c.2209+20A>C (n.2209+20A>C) c.2226A>C (p.Ser742=) c.2145A>C (p.Ser715=) c.2142A>C (p.Ser714=) | |
| X | g.20155411G>A | CA412511634 | RPS6KA3 | c.2210C>T (p.Ser737Leu) c.2123C>T (p.Ser708Leu) c.2126C>T (p.Ser709Leu) c.1828C>T (n.1828C>T) c.*1431C>T (n.*1431C>T) c.2207C>T (p.Ser736Leu) c.2120C>T (p.Ser707Leu) c.2209+19C>T (n.2209+19C>T) c.2225C>T (p.Ser742Leu) c.2144C>T (p.Ser715Leu) c.2141C>T (p.Ser714Leu) | |
| X | g.20155411G>C | CA412511637 | RPS6KA3 | c.2210C>G (p.Ser737Ter) c.2123C>G (p.Ser708Ter) c.2126C>G (p.Ser709Ter) c.1828C>G (n.1828C>G) c.*1431C>G (n.*1431C>G) c.2207C>G (p.Ser736Ter) c.2120C>G (p.Ser707Ter) c.2209+19C>G (n.2209+19C>G) c.2225C>G (p.Ser742Ter) c.2144C>G (p.Ser715Ter) c.2141C>G (p.Ser714Ter) | |
| X | g.20155411G>T | CA412511639 | RPS6KA3 | c.2210C>A (p.Ser737Ter) c.2123C>A (p.Ser708Ter) c.2126C>A (p.Ser709Ter) c.1828C>A (n.1828C>A) c.*1431C>A (n.*1431C>A) c.2207C>A (p.Ser736Ter) c.2120C>A (p.Ser707Ter) c.2209+19C>A (n.2209+19C>A) c.2225C>A (p.Ser742Ter) c.2144C>A (p.Ser715Ter) c.2141C>A (p.Ser714Ter) | |
| X | g.20155412A>C | CA412511645 | RPS6KA3 | c.2209T>G (p.Ser737Ala) c.2122T>G (p.Ser708Ala) c.2125T>G (p.Ser709Ala) c.1827T>G (n.1827T>G) c.*1430T>G (n.*1430T>G) c.2206T>G (p.Ser736Ala) c.2119T>G (p.Ser707Ala) c.2209+18T>G (n.2209+18T>G) c.2224T>G (p.Ser742Ala) c.2143T>G (p.Ser715Ala) c.2140T>G (p.Ser714Ala) | |
| X | g.20155412A>G | CA412511648 | RPS6KA3 | c.2209T>C (p.Ser737Pro) c.2122T>C (p.Ser708Pro) c.2125T>C (p.Ser709Pro) c.1827T>C (n.1827T>C) c.*1430T>C (n.*1430T>C) c.2206T>C (p.Ser736Pro) c.2119T>C (p.Ser707Pro) c.2209+18T>C (n.2209+18T>C) c.2224T>C (p.Ser742Pro) c.2143T>C (p.Ser715Pro) c.2140T>C (p.Ser714Pro) | |
| X | g.20155412A>T | CA412511642 | RPS6KA3 | c.2209T>A (p.Ser737Thr) c.2122T>A (p.Ser708Thr) c.2125T>A (p.Ser709Thr) c.1827T>A (n.1827T>A) c.*1430T>A (n.*1430T>A) c.2206T>A (p.Ser736Thr) c.2119T>A (p.Ser707Thr) c.2209+18T>A (n.2209+18T>A) c.2224T>A (p.Ser742Thr) c.2143T>A (p.Ser715Thr) c.2140T>A (p.Ser714Thr) | |
| 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 |