Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.20155382T>CCA640848019RPS6KA3c.*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
Xg.20155382T>GCA2693275642RPS6KA3c.*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
Xg.20155382T=CA2418502947RPS6KA3c.*16A= (n.*16A=)
c.1857A= (n.1857A=)
c.*1460A= (n.*1460A=)
c.2239A= (n.2239A=)
c.2209+48A= (n.2209+48A=)
Xg.20155384_20155385delCA2579569022RPS6KA3c.*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)
Xg.20155383C>ACA2693275644RPS6KA3c.*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
Xg.20155384T>CCA873787058RPS6KA3c.*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
Xg.20155384T>GCA2693275646RPS6KA3c.*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
Xg.20155384T=CA2418502948RPS6KA3c.*14A= (n.*14A=)
c.1855A= (n.1855A=)
c.*1458A= (n.*1458A=)
c.2237A= (n.2237A=)
c.2209+46A= (n.2209+46A=)
Xg.20155385C>GCA2541314004RPS6KA3c.*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)
Xg.20155386A>CCA1131481769RPS6KA3c.*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
Xg.20155386A>GCA2521870090RPS6KA3c.*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)
Xg.20155387C>TCA2526569738RPS6KA3c.*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)
Xg.20155391G>ACA10366024RPS6KA3c.*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
Xg.20155391G=CA2418502949RPS6KA3c.*7C= (n.*7C=)
c.1848C= (n.1848C=)
c.*1451C= (n.*1451C=)
c.2230C= (n.2230C=)
c.2209+39C= (n.2209+39C=)
Xg.20155393T>GCA640848023RPS6KA3c.*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
Xg.20155393T=CA2418502950RPS6KA3c.*5A= (n.*5A=)
c.1846A= (n.1846A=)
c.*1449A= (n.*1449A=)
c.2228A= (n.2228A=)
c.2209+37A= (n.2209+37A=)
Xg.20155396C>TCA2693275654RPS6KA3c.*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
Xg.20155397T>CCA10366025RPS6KA3c.*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
Xg.20155397T=CA2418502951RPS6KA3c.*1A= (n.*1A=)
c.1842A= (n.1842A=)
c.*1445A= (n.*1445A=)
c.2224A= (n.2224A=)
c.2209+33A= (n.2209+33A=)
Xg.20155398T>ACA412511541RPS6KA3c.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)
Xg.20155398T>CCA412511546RPS6KA3c.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)
Xg.20155398T>GCA412511544RPS6KA3c.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)
Xg.20155399C>ACA412511548RPS6KA3c.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)
Xg.20155399C>GCA412511552RPS6KA3c.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)
Xg.20155399C>TCA515613257RPS6KA3c.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
Xg.20155400A>CCA412511555RPS6KA3c.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)
Xg.20155400A>GCA412511562RPS6KA3c.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)
Xg.20155400A>TCA412511564RPS6KA3c.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)
Xg.20155401C>ACA515613258RPS6KA3c.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=)
Xg.20155401C>GCA515613259RPS6KA3c.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=)
Xg.20155401C>TCA515613260RPS6KA3c.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=)
Xg.20155402A>CCA412511566RPS6KA3c.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)
Xg.20155402A>GCA412511570RPS6KA3c.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)
Xg.20155402A>TCA412511575RPS6KA3c.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)
Xg.20155403G>ACA515613261RPS6KA3c.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
Xg.20155403G>CCA412511578RPS6KA3c.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)
Xg.20155403G=CA2418502952RPS6KA3c.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=)
Xg.20155403G>TCA412511581RPS6KA3c.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)
Xg.20155404G>ACA515613263RPS6KA3c.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=)
Xg.20155404G>CCA515613264RPS6KA3c.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
Xg.20155404G=CA2418502953RPS6KA3c.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=)
Xg.20155404G>TCA515613265RPS6KA3c.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=)
Xg.20155405G>ACA412511587RPS6KA3c.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)
Xg.20155405G>CCA412511589RPS6KA3c.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)
Xg.20155405G>TCA412511584RPS6KA3c.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)
Xg.20155406C>ACA412511592RPS6KA3c.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)
Xg.20155406C>GCA412511605RPS6KA3c.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)
Xg.20155406C>TCA412511608RPS6KA3c.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)
Xg.20155407T>ACA515613266RPS6KA3c.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=)
Xg.20155407T>CCA515613267RPS6KA3c.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=)
Xg.20155407T>GCA515613268RPS6KA3c.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=)
Xg.20155408G>ACA412511613RPS6KA3c.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)
Xg.20155408G>CCA412511622RPS6KA3c.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)
Xg.20155408G>TCA412511624RPS6KA3c.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)
Xg.20155409T>ACA412511627RPS6KA3c.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)
Xg.20155409T>CCA412511630RPS6KA3c.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)
Xg.20155409T>GCA412511632RPS6KA3c.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)
Xg.20155410T>ACA515613269RPS6KA3c.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=)
Xg.20155410T>CCA515613271RPS6KA3c.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=)
Xg.20155410T>GCA515613270RPS6KA3c.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=)
Xg.20155411G>ACA412511634RPS6KA3c.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)
Xg.20155411G>CCA412511637RPS6KA3c.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)
Xg.20155411G>TCA412511639RPS6KA3c.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)
Xg.20155412A>CCA412511645RPS6KA3c.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)
Xg.20155412A>GCA412511648RPS6KA3c.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)
Xg.20155412A>TCA412511642RPS6KA3c.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)
Xg.20155413G>ACA515613272RPS6KA3c.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=)
Xg.20155413G>CCA515613274RPS6KA3c.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=)
Xg.20155413G>TCA515613275RPS6KA3c.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=)
Xg.20155414G>ACA412511651RPS6KA3c.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)
Xg.20155414G>CCA412511669RPS6KA3c.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)
Xg.20155414G>TCA412511672RPS6KA3c.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)
Xg.20155415T>ACA412511675RPS6KA3c.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)
Xg.20155415T>CCA412511678RPS6KA3c.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
Xg.20155415T>GCA412511681RPS6KA3c.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)
Xg.20155416G>ACA10366026RPS6KA3c.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
Xg.20155416G>CCA412511684RPS6KA3c.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)
Xg.20155416G=CA2418502954RPS6KA3c.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=)
Xg.20155416G>TCA515613276RPS6KA3c.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
Xg.20155416_20155417insTCA645601232RPS6KA3c.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
Xg.20155417A>CCA412511687RPS6KA3c.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)
Xg.20155417A>GCA412511688RPS6KA3c.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)
Xg.20155417A>TCA412511689RPS6KA3c.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
Xg.20155418T>ACA412511690RPS6KA3c.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)
Xg.20155418T>CCA412511691RPS6KA3c.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)
Xg.20155418T>GCA412511692RPS6KA3c.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)
Xg.20155424dupCA2580100446RPS6KA3c.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
Xg.20155424delCA645601233RPS6KA3c.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
Xg.20155422_20155424delCA2693275703RPS6KA3c.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
Xg.20155419T>ACA412511693RPS6KA3c.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)
Xg.20155419T>CCA515613278RPS6KA3c.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=)
Xg.20155419T>GCA412511695RPS6KA3c.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)
Xg.20155420T>ACA412511697RPS6KA3c.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)
Xg.20155420T>CCA412511705RPS6KA3c.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)
Xg.20155420T>GCA412511700RPS6KA3c.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)
Xg.20155421T>ACA412511708RPS6KA3c.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)
Xg.20155421T>CCA412511710RPS6KA3c.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)
Xg.20155421T>GCA412511713RPS6KA3c.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)
Xg.20155422T>ACA412511716RPS6KA3c.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)
Xg.20155422T>CCA515613279RPS6KA3c.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=)
Xg.20155422T>GCA412511718RPS6KA3c.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)
Xg.20155423T>ACA412511720RPS6KA3c.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)
Xg.20155423T>CCA412511722RPS6KA3c.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)
Xg.20155423T>GCA412511725RPS6KA3c.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)
Xg.20155424T>ACA412511728RPS6KA3c.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)
Xg.20155424T>CCA412511730RPS6KA3c.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)
Xg.20155424T>GCA412511733RPS6KA3c.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)
Xg.20155424_20155425delinsTACA2418502955RPS6KA3c.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=)
Xg.20155425A>CCA412511734RPS6KA3c.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)
Xg.20155425A>GCA515613280RPS6KA3c.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=)
Xg.20155425A>TCA515613281RPS6KA3c.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=)
Xg.20155426delCA915950789RPS6KA3c.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
Xg.20155426A>CCA412511749RPS6KA3c.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)
Xg.20155426A>GCA412511739RPS6KA3c.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)
Xg.20155426A>TCA412511746RPS6KA3c.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)
Xg.20155427T>ACA412511756RPS6KA3c.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)
Xg.20155427T>CCA412511759RPS6KA3c.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
Xg.20155427T>GCA412511763RPS6KA3c.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)
Xg.20155427T=CA2418502956RPS6KA3c.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=)
Xg.20155428A=CA2418502957RPS6KA3c.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=)
Xg.20155428A>CCA515613282RPS6KA3c.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=)
Xg.20155428A>GCA515613283RPS6KA3c.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
Xg.20155428A>TCA515613284RPS6KA3c.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=)
Xg.20155429C>ACA412511767RPS6KA3c.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)
Xg.20155429C>GCA412511769RPS6KA3c.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)
Xg.20155429C>TCA412511772RPS6KA3c.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)
Xg.20155430C>ACA412511776RPS6KA3c.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)
Xg.20155430C=CA2418502958RPS6KA3c.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=)
Xg.20155430C>GCA412511779RPS6KA3c.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)
Xg.20155430C>TCA10366027RPS6KA3c.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
Xg.20155431T>ACA412511784RPS6KA3c.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)
Xg.20155431T>CCA515613285RPS6KA3c.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=)
Xg.20155431T>GCA412511787RPS6KA3c.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)
Xg.20155432C>ACA412511794RPS6KA3c.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)
Xg.20155432C>GCA412511793RPS6KA3c.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)
Xg.20155432C>TCA412511791RPS6KA3c.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)
Xg.20155433T>ACA412511799RPS6KA3c.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)
Xg.20155433T>CCA412511802RPS6KA3c.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)
Xg.20155433T>GCA515613286RPS6KA3c.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=)
Xg.20155434C>ACA515613287RPS6KA3c.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=)
Xg.20155434C>GCA515613288RPS6KA3c.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
Xg.20155434C>TCA515613289RPS6KA3c.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=)
Xg.20155435C>ACA412511804RPS6KA3c.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)
Xg.20155435C=CA2418502959RPS6KA3c.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=)
Xg.20155435C>GCA412511807RPS6KA3c.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)
Xg.20155435C>TCA255962RPS6KA3c.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
Xg.20155436G>ACA412511813RPS6KA3c.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
Xg.20155436G>CCA412511815RPS6KA3c.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)
Xg.20155436G=CA2418502960RPS6KA3c.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=)
Xg.20155436G>TCA515613290RPS6KA3c.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
Xg.20155437C>ACA412511818RPS6KA3c.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)
Xg.20155437C>GCA412511821RPS6KA3c.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)
Xg.20155437C>TCA515613291RPS6KA3c.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=)
Xg.20155438T>ACA412511824RPS6KA3c.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)
Xg.20155438T>CCA412511827RPS6KA3c.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)
Xg.20155438T>GCA412511830RPS6KA3c.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)
Xg.20155439G>ACA412511839RPS6KA3c.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)
Xg.20155439G>CCA412511835RPS6KA3c.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)
Xg.20155439G>TCA412511833RPS6KA3c.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)
Xg.20155440A=CA2418502961RPS6KA3c.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=)
Xg.20155440A>CCA327473500RPS6KA3c.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
Xg.20155440A>GCA515613292RPS6KA3c.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=)
Xg.20155440A>TCA515613293RPS6KA3c.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=)
Xg.20155441G>ACA412511843RPS6KA3c.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)
Xg.20155441G>CCA412511845RPS6KA3c.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)
Xg.20155441G>TCA412511848RPS6KA3c.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)
Xg.20155442C>ACA412511851RPS6KA3c.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)
Xg.20155442C>GCA412511854RPS6KA3c.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)
Xg.20155442C>TCA412511855RPS6KA3c.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)
Xg.20155443A>CCA515613294RPS6KA3c.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=)
Xg.20155443A>GCA515613295RPS6KA3c.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=)
Xg.20155443A>TCA515613296RPS6KA3c.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=)
Xg.20155444A>CCA412511858RPS6KA3c.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)
Xg.20155444A>GCA412511859RPS6KA3c.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)
Xg.20155444A>TCA412511860RPS6KA3c.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)
Xg.20155445G>ACA412511861RPS6KA3c.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)
Xg.20155445G>CCA412511862RPS6KA3c.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)
Xg.20155445G>TCA412511863RPS6KA3c.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)
Xg.20155446A>CCA515613299RPS6KA3c.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=)
Xg.20155446A>GCA515613298RPS6KA3c.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=)
Xg.20155446A>TCA515613297RPS6KA3c.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=)
Xg.20155447G>ACA412511878RPS6KA3c.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)
Xg.20155447G>CCA412511876RPS6KA3c.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)
Xg.20155447G>TCA412511866RPS6KA3c.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)
Xg.20155448T>ACA412511881RPS6KA3c.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)
Xg.20155448T>CCA412511885RPS6KA3c.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
Xg.20155448T>GCA412511883RPS6KA3c.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)
Xg.20155449A>CCA515613300RPS6KA3c.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=)
Xg.20155449A>GCA515613301RPS6KA3c.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=)
Xg.20155449A>TCA515613302RPS6KA3c.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=)
Xg.20155450G>ACA412511890RPS6KA3c.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
Xg.20155450G>CCA412511894RPS6KA3c.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)
Xg.20155450G>TCA412511892RPS6KA3c.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)
Xg.20155451A>CCA412511898RPS6KA3c.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)
Xg.20155451A>GCA412511901RPS6KA3c.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)
Xg.20155451A>TCA412511903RPS6KA3c.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)
Xg.20155452G>ACA515613303RPS6KA3c.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=)
Xg.20155452G>CCA515613304RPS6KA3c.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=)
Xg.20155452G>TCA515613305RPS6KA3c.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=)
Xg.20155453C>ACA412511905RPS6KA3c.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)
Xg.20155453C=CA2418502962RPS6KA3c.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=)
Xg.20155453C>GCA412511907RPS6KA3c.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)
Xg.20155453C>TCA207224RPS6KA3c.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
Xg.20155454G>ACA327473501RPS6KA3c.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
Xg.20155454G>CCA412511912RPS6KA3c.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)
Xg.20155454G=CA2418502963RPS6KA3c.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=)
Xg.20155454G>TCA412511914RPS6KA3c.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)
Xg.20155455G>ACA515613306RPS6KA3c.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=)
Xg.20155455G>CCA515613307RPS6KA3c.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=)
Xg.20155455G>TCA515613308RPS6KA3c.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=)
Xg.20155456C>ACA412511917RPS6KA3c.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)
Xg.20155456C>GCA412511919RPS6KA3c.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)
Xg.20155456C>TCA412511921RPS6KA3c.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)
Xg.20155457C>ACA412511923RPS6KA3c.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)
Xg.20155457C>GCA412511927RPS6KA3c.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)
Xg.20155457C>TCA412511925RPS6KA3c.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)
Xg.20155458T>ACA515613309RPS6KA3c.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=)
Xg.20155458T>CCA515613310RPS6KA3c.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=)
Xg.20155458T>GCA515613311RPS6KA3c.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=)
Xg.20155458T=CA2418502964RPS6KA3c.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=)
Xg.20155459A>CCA412511929RPS6KA3c.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)
Xg.20155459A>GCA412511931RPS6KA3c.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)
Xg.20155459A>TCA412511933RPS6KA3c.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)
Xg.20155459dupCA2418502965RPS6KA3c.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
Xg.20155460C>ACA412511934RPS6KA3c.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)
Xg.20155460C>GCA412511936RPS6KA3c.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)
Xg.20155460C>TCA412511938RPS6KA3c.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)
Xg.20155461T>ACA515613312RPS6KA3c.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=)
Xg.20155461T>CCA515613313RPS6KA3c.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=)
Xg.20155461T>GCA515613314RPS6KA3c.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=)
Xg.20155462G>ACA412511941RPS6KA3c.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)
Xg.20155462G>CCA412511943RPS6KA3c.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)
Xg.20155462G>TCA412511945RPS6KA3c.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)
Xg.20155463G>ACA412511952RPS6KA3c.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)
Xg.20155463G>CCA412511949RPS6KA3c.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)
Xg.20155463G>TCA412511948RPS6KA3c.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)
Xg.20155464T>ACA412511954RPS6KA3c.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)
Xg.20155464T>CCA515613315RPS6KA3c.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
Xg.20155464T>GCA412511956RPS6KA3c.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)
Xg.20155465T>ACA412511958RPS6KA3c.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)
Xg.20155465T>CCA412511960RPS6KA3c.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)
Xg.20155465T>GCA412511962RPS6KA3c.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)
Xg.20155466C>ACA412511963RPS6KA3c.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)
Xg.20155466C>GCA412511965RPS6KA3c.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
Xg.20155466C>TCA412511966RPS6KA3c.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)
Xg.20155467C>ACA412511968RPS6KA3c.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)
Xg.20155467C>GCA412511970RPS6KA3c.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)
Xg.20155467C>TCA515613316RPS6KA3c.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=)
Xg.20155468A>CCA412511972RPS6KA3c.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)
Xg.20155468A>GCA412511973RPS6KA3c.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)
Xg.20155468A>TCA412511975RPS6KA3c.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)
Xg.20155469A>CCA412511978RPS6KA3c.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)
Xg.20155469A>GCA515613317RPS6KA3c.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=)
Xg.20155469A>TCA412511979RPS6KA3c.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)
Xg.20155470A>CCA515613318RPS6KA3c.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=)
Xg.20155470A>GCA515613319RPS6KA3c.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=)
Xg.20155470A>TCA515613320RPS6KA3c.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=)
Xg.20155471A>CCA412511982RPS6KA3c.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)
Xg.20155471A>GCA412511984RPS6KA3c.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)
Xg.20155471A>TCA412511985RPS6KA3c.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)
Xg.20155472C>ACA412511987RPS6KA3c.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)
Xg.20155472C>GCA412511989RPS6KA3c.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)
Xg.20155472C>TCA412511991RPS6KA3c.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)
Xg.20155473T>ACA515613321RPS6KA3c.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=)
Xg.20155473T>CCA515613323RPS6KA3c.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=)
Xg.20155473T>GCA515613322RPS6KA3c.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=)
Xg.20155474G>ACA412511992RPS6KA3c.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)
Xg.20155474G>CCA412511994RPS6KA3c.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)
Xg.20155474G>TCA412511996RPS6KA3c.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)
Xg.20155475G>ACA412511997RPS6KA3c.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)
Xg.20155475G>CCA412511999RPS6KA3c.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)
Xg.20155475G>TCA412512001RPS6KA3c.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)
Xg.20155476_20155477delCA2579569023RPS6KA3c.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)
Xg.20155476T>ACA515613324RPS6KA3c.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=)
Xg.20155476T>CCA515613325RPS6KA3c.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=)
Xg.20155476T>GCA515613326RPS6KA3c.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=)
Xg.20155476_20155477delinsTGCA2418502966RPS6KA3c.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=)
Xg.20155479_20155482dupCA2573158439RPS6KA3c.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
Xg.20155477delCA913185055RPS6KA3c.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
Xg.20155477G>ACA412512005RPS6KA3c.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)
Xg.20155477G>CCA412512007RPS6KA3c.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)
Xg.20155477G>TCA412512003RPS6KA3c.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)
Xg.20155478A>CCA412512008RPS6KA3c.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)
Xg.20155478A>GCA412512010RPS6KA3c.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)
Xg.20155478A>TCA412512012RPS6KA3c.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)
Xg.20155479C>ACA412512014RPS6KA3c.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)
Xg.20155479C=CA2418502967RPS6KA3c.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=)
Xg.20155479C>GCA412512016RPS6KA3c.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)
Xg.20155479C>TCA515613327RPS6KA3c.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
Xg.20155480T>ACA412512018RPS6KA3c.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)
Xg.20155480T>CCA412512019RPS6KA3c.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)
Xg.20155480T>GCA412512022RPS6KA3c.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)
Xg.20155481G>ACA412512026RPS6KA3c.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)
Xg.20155481G>CCA412512028RPS6KA3c.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)
Xg.20155481G>TCA412512029RPS6KA3c.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)
Xg.20155482A>CCA412512030RPS6KA3c.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)
Xg.20155482A>GCA515613328RPS6KA3c.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=)
Xg.20155482A>TCA412512031RPS6KA3c.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)

Number of alleles fetched