Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.151408499G>ACA341956662POGZc.2192C>T (p.Ala731Val)
c.1985C>T (p.Ala662Val)
c.2144C>T (p.Ala715Val)
c.2165C>T (p.Ala722Val)
n.2013C>T
c.1859C>T (p.Ala620Val)
c.2117C>T (p.Ala706Val)
c.2012C>T (p.Ala671Val)
n.55C>T
c.344C>T (p.Ala115Val)
c.1958C>T (p.Ala653Val)
c.2036C>T (p.Ala679Val)
c.1787C>T (p.Ala596Val)
n.2062+195C>T
c.2018C>T (p.Ala673Val)
c.944C>T (p.Ala315Val)
n.2089+195C>T
1g.151408499G>CCA341956664POGZc.2192C>G (p.Ala731Gly)
c.1985C>G (p.Ala662Gly)
c.2144C>G (p.Ala715Gly)
c.2165C>G (p.Ala722Gly)
n.2013C>G
c.1859C>G (p.Ala620Gly)
c.2117C>G (p.Ala706Gly)
c.2012C>G (p.Ala671Gly)
n.55C>G
c.344C>G (p.Ala115Gly)
c.1958C>G (p.Ala653Gly)
c.2036C>G (p.Ala679Gly)
c.1787C>G (p.Ala596Gly)
n.2062+195C>G
c.2018C>G (p.Ala673Gly)
c.944C>G (p.Ala315Gly)
n.2089+195C>G
1g.151408499G>TCA341956667POGZc.2192C>A (p.Ala731Glu)
c.1985C>A (p.Ala662Glu)
c.2144C>A (p.Ala715Glu)
c.2165C>A (p.Ala722Glu)
n.2013C>A
c.1859C>A (p.Ala620Glu)
c.2117C>A (p.Ala706Glu)
c.2012C>A (p.Ala671Glu)
n.55C>A
c.344C>A (p.Ala115Glu)
c.1958C>A (p.Ala653Glu)
c.2036C>A (p.Ala679Glu)
c.1787C>A (p.Ala596Glu)
n.2062+195C>A
c.2018C>A (p.Ala673Glu)
c.944C>A (p.Ala315Glu)
n.2089+195C>A
1g.151408500C>ACA341956668POGZc.2191G>T (p.Ala731Ser)
c.1984G>T (p.Ala662Ser)
c.2143G>T (p.Ala715Ser)
c.2164G>T (p.Ala722Ser)
n.2012G>T
c.1858G>T (p.Ala620Ser)
c.2116G>T (p.Ala706Ser)
c.2011G>T (p.Ala671Ser)
n.54G>T
c.343G>T (p.Ala115Ser)
c.1957G>T (p.Ala653Ser)
c.2035G>T (p.Ala679Ser)
c.1786G>T (p.Ala596Ser)
n.2062+194G>T
c.2017G>T (p.Ala673Ser)
c.943G>T (p.Ala315Ser)
n.2089+194G>T
 gnomAD v4
1g.151408500C=CA2479571513POGZc.2191G= (p.Ala731=)
c.1984G= (p.Ala662=)
c.2143G= (p.Ala715=)
c.2164G= (p.Ala722=)
n.2012G=
c.1858G= (p.Ala620=)
c.2116G= (p.Ala706=)
c.2011G= (p.Ala671=)
n.54G=
c.343G= (p.Ala115=)
c.1957G= (p.Ala653=)
c.2035G= (p.Ala679=)
c.1786G= (p.Ala596=)
n.2062+194G=
c.2017G= (p.Ala673=)
c.943G= (p.Ala315=)
n.2089+194G=
1g.151408500C>GCA341956669POGZc.2191G>C (p.Ala731Pro)
c.1984G>C (p.Ala662Pro)
c.2143G>C (p.Ala715Pro)
c.2164G>C (p.Ala722Pro)
n.2012G>C
c.1858G>C (p.Ala620Pro)
c.2116G>C (p.Ala706Pro)
c.2011G>C (p.Ala671Pro)
n.54G>C
c.343G>C (p.Ala115Pro)
c.1957G>C (p.Ala653Pro)
c.2035G>C (p.Ala679Pro)
c.1786G>C (p.Ala596Pro)
n.2062+194G>C
c.2017G>C (p.Ala673Pro)
c.943G>C (p.Ala315Pro)
n.2089+194G>C
1g.151408500C>TCA341956670POGZc.2191G>A (p.Ala731Thr)
c.1984G>A (p.Ala662Thr)
c.2143G>A (p.Ala715Thr)
c.2164G>A (p.Ala722Thr)
n.2012G>A
c.1858G>A (p.Ala620Thr)
c.2116G>A (p.Ala706Thr)
c.2011G>A (p.Ala671Thr)
n.54G>A
c.343G>A (p.Ala115Thr)
c.1957G>A (p.Ala653Thr)
c.2035G>A (p.Ala679Thr)
c.1786G>A (p.Ala596Thr)
n.2062+194G>A
c.2017G>A (p.Ala673Thr)
c.943G>A (p.Ala315Thr)
n.2089+194G>A
 dbSNP gnomAD v2
1g.151408501C>ACA341956673POGZc.2190G>T (p.Glu730Asp)
c.1983G>T (p.Glu661Asp)
c.2142G>T (p.Glu714Asp)
c.2163G>T (p.Glu721Asp)
n.2011G>T
c.1857G>T (p.Glu619Asp)
c.2115G>T (p.Glu705Asp)
c.2010G>T (p.Glu670Asp)
n.53G>T
c.342G>T (p.Glu114Asp)
c.1956G>T (p.Glu652Asp)
c.2034G>T (p.Glu678Asp)
c.1785G>T (p.Glu595Asp)
n.2062+193G>T
c.2016G>T (p.Glu672Asp)
c.942G>T (p.Glu314Asp)
n.2089+193G>T
1g.151408501C>GCA341956682POGZc.2190G>C (p.Glu730Asp)
c.1983G>C (p.Glu661Asp)
c.2142G>C (p.Glu714Asp)
c.2163G>C (p.Glu721Asp)
n.2011G>C
c.1857G>C (p.Glu619Asp)
c.2115G>C (p.Glu705Asp)
c.2010G>C (p.Glu670Asp)
n.53G>C
c.342G>C (p.Glu114Asp)
c.1956G>C (p.Glu652Asp)
c.2034G>C (p.Glu678Asp)
c.1785G>C (p.Glu595Asp)
n.2062+193G>C
c.2016G>C (p.Glu672Asp)
c.942G>C (p.Glu314Asp)
n.2089+193G>C
1g.151408501C>TCA420910231POGZc.2190G>A (p.Glu730=)
c.1983G>A (p.Glu661=)
c.2142G>A (p.Glu714=)
c.2163G>A (p.Glu721=)
n.2011G>A
c.1857G>A (p.Glu619=)
c.2115G>A (p.Glu705=)
c.2010G>A (p.Glu670=)
n.53G>A
c.342G>A (p.Glu114=)
c.1956G>A (p.Glu652=)
c.2034G>A (p.Glu678=)
c.1785G>A (p.Glu595=)
n.2062+193G>A
c.2016G>A (p.Glu672=)
c.942G>A (p.Glu314=)
n.2089+193G>A
1g.151408502T>ACA341956694POGZc.2189A>T (p.Glu730Val)
c.1982A>T (p.Glu661Val)
c.2141A>T (p.Glu714Val)
c.2162A>T (p.Glu721Val)
n.2010A>T
c.1856A>T (p.Glu619Val)
c.2114A>T (p.Glu705Val)
c.2009A>T (p.Glu670Val)
n.52A>T
c.341A>T (p.Glu114Val)
c.1955A>T (p.Glu652Val)
c.2033A>T (p.Glu678Val)
c.1784A>T (p.Glu595Val)
n.2062+192A>T
c.2015A>T (p.Glu672Val)
c.941A>T (p.Glu314Val)
n.2089+192A>T
1g.151408502T>CCA341956685POGZc.2189A>G (p.Glu730Gly)
c.1982A>G (p.Glu661Gly)
c.2141A>G (p.Glu714Gly)
c.2162A>G (p.Glu721Gly)
n.2010A>G
c.1856A>G (p.Glu619Gly)
c.2114A>G (p.Glu705Gly)
c.2009A>G (p.Glu670Gly)
n.52A>G
c.341A>G (p.Glu114Gly)
c.1955A>G (p.Glu652Gly)
c.2033A>G (p.Glu678Gly)
c.1784A>G (p.Glu595Gly)
n.2062+192A>G
c.2015A>G (p.Glu672Gly)
c.941A>G (p.Glu314Gly)
n.2089+192A>G
1g.151408502T>GCA341956690POGZc.2189A>C (p.Glu730Ala)
c.1982A>C (p.Glu661Ala)
c.2141A>C (p.Glu714Ala)
c.2162A>C (p.Glu721Ala)
n.2010A>C
c.1856A>C (p.Glu619Ala)
c.2114A>C (p.Glu705Ala)
c.2009A>C (p.Glu670Ala)
n.52A>C
c.341A>C (p.Glu114Ala)
c.1955A>C (p.Glu652Ala)
c.2033A>C (p.Glu678Ala)
c.1784A>C (p.Glu595Ala)
n.2062+192A>C
c.2015A>C (p.Glu672Ala)
c.941A>C (p.Glu314Ala)
n.2089+192A>C
1g.151408503C>ACA341956698POGZc.2188G>T (p.Glu730Ter)
c.1981G>T (p.Glu661Ter)
c.2140G>T (p.Glu714Ter)
c.2161G>T (p.Glu721Ter)
n.2009G>T
c.1855G>T (p.Glu619Ter)
c.2113G>T (p.Glu705Ter)
c.2008G>T (p.Glu670Ter)
n.51G>T
c.340G>T (p.Glu114Ter)
c.1954G>T (p.Glu652Ter)
c.2032G>T (p.Glu678Ter)
c.1783G>T (p.Glu595Ter)
n.2062+191G>T
c.2014G>T (p.Glu672Ter)
c.940G>T (p.Glu314Ter)
n.2089+191G>T
1g.151408503C>GCA341956701POGZc.2188G>C (p.Glu730Gln)
c.1981G>C (p.Glu661Gln)
c.2140G>C (p.Glu714Gln)
c.2161G>C (p.Glu721Gln)
n.2009G>C
c.1855G>C (p.Glu619Gln)
c.2113G>C (p.Glu705Gln)
c.2008G>C (p.Glu670Gln)
n.51G>C
c.340G>C (p.Glu114Gln)
c.1954G>C (p.Glu652Gln)
c.2032G>C (p.Glu678Gln)
c.1783G>C (p.Glu595Gln)
n.2062+191G>C
c.2014G>C (p.Glu672Gln)
c.940G>C (p.Glu314Gln)
n.2089+191G>C
1g.151408503C>TCA341956703POGZc.2188G>A (p.Glu730Lys)
c.1981G>A (p.Glu661Lys)
c.2140G>A (p.Glu714Lys)
c.2161G>A (p.Glu721Lys)
n.2009G>A
c.1855G>A (p.Glu619Lys)
c.2113G>A (p.Glu705Lys)
c.2008G>A (p.Glu670Lys)
n.51G>A
c.340G>A (p.Glu114Lys)
c.1954G>A (p.Glu652Lys)
c.2032G>A (p.Glu678Lys)
c.1783G>A (p.Glu595Lys)
n.2062+191G>A
c.2014G>A (p.Glu672Lys)
c.940G>A (p.Glu314Lys)
n.2089+191G>A
1g.151408504C>ACA341956705POGZc.2187G>T (p.Gln729His)
c.1980G>T (p.Gln660His)
c.2139G>T (p.Gln713His)
c.2160G>T (p.Gln720His)
n.2008G>T
c.1854G>T (p.Gln618His)
c.2112G>T (p.Gln704His)
c.2007G>T (p.Gln669His)
n.50G>T
c.339G>T (p.Gln113His)
c.1953G>T (p.Gln651His)
c.2031G>T (p.Gln677His)
c.1782G>T (p.Gln594His)
n.2062+190G>T
c.2013G>T (p.Gln671His)
c.939G>T (p.Gln313His)
n.2089+190G>T
1g.151408504C>GCA341956706POGZc.2187G>C (p.Gln729His)
c.1980G>C (p.Gln660His)
c.2139G>C (p.Gln713His)
c.2160G>C (p.Gln720His)
n.2008G>C
c.1854G>C (p.Gln618His)
c.2112G>C (p.Gln704His)
c.2007G>C (p.Gln669His)
n.50G>C
c.339G>C (p.Gln113His)
c.1953G>C (p.Gln651His)
c.2031G>C (p.Gln677His)
c.1782G>C (p.Gln594His)
n.2062+190G>C
c.2013G>C (p.Gln671His)
c.939G>C (p.Gln313His)
n.2089+190G>C
1g.151408504C>TCA420910238POGZc.2187G>A (p.Gln729=)
c.1980G>A (p.Gln660=)
c.2139G>A (p.Gln713=)
c.2160G>A (p.Gln720=)
n.2008G>A
c.1854G>A (p.Gln618=)
c.2112G>A (p.Gln704=)
c.2007G>A (p.Gln669=)
n.50G>A
c.339G>A (p.Gln113=)
c.1953G>A (p.Gln651=)
c.2031G>A (p.Gln677=)
c.1782G>A (p.Gln594=)
n.2062+190G>A
c.2013G>A (p.Gln671=)
c.939G>A (p.Gln313=)
n.2089+190G>A
1g.151408505T>ACA341956707POGZc.2186A>T (p.Gln729Leu)
c.1979A>T (p.Gln660Leu)
c.2138A>T (p.Gln713Leu)
c.2159A>T (p.Gln720Leu)
n.2007A>T
c.1853A>T (p.Gln618Leu)
c.2111A>T (p.Gln704Leu)
c.2006A>T (p.Gln669Leu)
n.49A>T
c.338A>T (p.Gln113Leu)
c.1952A>T (p.Gln651Leu)
c.2030A>T (p.Gln677Leu)
c.1781A>T (p.Gln594Leu)
n.2062+189A>T
c.2012A>T (p.Gln671Leu)
c.938A>T (p.Gln313Leu)
n.2089+189A>T
1g.151408505T>CCA341956710POGZc.2186A>G (p.Gln729Arg)
c.1979A>G (p.Gln660Arg)
c.2138A>G (p.Gln713Arg)
c.2159A>G (p.Gln720Arg)
n.2007A>G
c.1853A>G (p.Gln618Arg)
c.2111A>G (p.Gln704Arg)
c.2006A>G (p.Gln669Arg)
n.49A>G
c.338A>G (p.Gln113Arg)
c.1952A>G (p.Gln651Arg)
c.2030A>G (p.Gln677Arg)
c.1781A>G (p.Gln594Arg)
n.2062+189A>G
c.2012A>G (p.Gln671Arg)
c.938A>G (p.Gln313Arg)
n.2089+189A>G
 COSMIC COSMIC
1g.151408505T>GCA341956712POGZc.2186A>C (p.Gln729Pro)
c.1979A>C (p.Gln660Pro)
c.2138A>C (p.Gln713Pro)
c.2159A>C (p.Gln720Pro)
n.2007A>C
c.1853A>C (p.Gln618Pro)
c.2111A>C (p.Gln704Pro)
c.2006A>C (p.Gln669Pro)
n.49A>C
c.338A>C (p.Gln113Pro)
c.1952A>C (p.Gln651Pro)
c.2030A>C (p.Gln677Pro)
c.1781A>C (p.Gln594Pro)
n.2062+189A>C
c.2012A>C (p.Gln671Pro)
c.938A>C (p.Gln313Pro)
n.2089+189A>C
1g.151408506G>ACA341956717POGZc.2185C>T (p.Gln729Ter)
c.1978C>T (p.Gln660Ter)
c.2137C>T (p.Gln713Ter)
c.2158C>T (p.Gln720Ter)
n.2006C>T
c.1852C>T (p.Gln618Ter)
c.2110C>T (p.Gln704Ter)
c.2005C>T (p.Gln669Ter)
n.48C>T
c.337C>T (p.Gln113Ter)
c.1951C>T (p.Gln651Ter)
c.2029C>T (p.Gln677Ter)
c.1780C>T (p.Gln594Ter)
n.2062+188C>T
c.2011C>T (p.Gln671Ter)
c.937C>T (p.Gln313Ter)
n.2089+188C>T
1g.151408506G>CCA341956719POGZc.2185C>G (p.Gln729Glu)
c.1978C>G (p.Gln660Glu)
c.2137C>G (p.Gln713Glu)
c.2158C>G (p.Gln720Glu)
n.2006C>G
c.1852C>G (p.Gln618Glu)
c.2110C>G (p.Gln704Glu)
c.2005C>G (p.Gln669Glu)
n.48C>G
c.337C>G (p.Gln113Glu)
c.1951C>G (p.Gln651Glu)
c.2029C>G (p.Gln677Glu)
c.1780C>G (p.Gln594Glu)
n.2062+188C>G
c.2011C>G (p.Gln671Glu)
c.937C>G (p.Gln313Glu)
n.2089+188C>G
 dbSNP gnomAD v4
1g.151408506G=CA2479571514POGZc.2185C= (p.Gln729=)
c.1978C= (p.Gln660=)
c.2137C= (p.Gln713=)
c.2158C= (p.Gln720=)
n.2006C=
c.1852C= (p.Gln618=)
c.2110C= (p.Gln704=)
c.2005C= (p.Gln669=)
n.48C=
c.337C= (p.Gln113=)
c.1951C= (p.Gln651=)
c.2029C= (p.Gln677=)
c.1780C= (p.Gln594=)
n.2062+188C=
c.2011C= (p.Gln671=)
c.937C= (p.Gln313=)
n.2089+188C=
1g.151408506G>TCA341956728POGZc.2185C>A (p.Gln729Lys)
c.1978C>A (p.Gln660Lys)
c.2137C>A (p.Gln713Lys)
c.2158C>A (p.Gln720Lys)
n.2006C>A
c.1852C>A (p.Gln618Lys)
c.2110C>A (p.Gln704Lys)
c.2005C>A (p.Gln669Lys)
n.48C>A
c.337C>A (p.Gln113Lys)
c.1951C>A (p.Gln651Lys)
c.2029C>A (p.Gln677Lys)
c.1780C>A (p.Gln594Lys)
n.2062+188C>A
c.2011C>A (p.Gln671Lys)
c.937C>A (p.Gln313Lys)
n.2089+188C>A
1g.151408507C>ACA341956730POGZc.2184G>T (p.Leu728Phe)
c.1977G>T (p.Leu659Phe)
c.2136G>T (p.Leu712Phe)
c.2157G>T (p.Leu719Phe)
n.2005G>T
c.1851G>T (p.Leu617Phe)
c.2109G>T (p.Leu703Phe)
c.2004G>T (p.Leu668Phe)
n.47G>T
c.336G>T (p.Leu112Phe)
c.1950G>T (p.Leu650Phe)
c.2028G>T (p.Leu676Phe)
c.1779G>T (p.Leu593Phe)
n.2062+187G>T
c.2010G>T (p.Leu670Phe)
c.936G>T (p.Leu312Phe)
n.2089+187G>T
 COSMIC COSMIC
1g.151408507C>GCA341956729POGZc.2184G>C (p.Leu728Phe)
c.1977G>C (p.Leu659Phe)
c.2136G>C (p.Leu712Phe)
c.2157G>C (p.Leu719Phe)
n.2005G>C
c.1851G>C (p.Leu617Phe)
c.2109G>C (p.Leu703Phe)
c.2004G>C (p.Leu668Phe)
n.47G>C
c.336G>C (p.Leu112Phe)
c.1950G>C (p.Leu650Phe)
c.2028G>C (p.Leu676Phe)
c.1779G>C (p.Leu593Phe)
n.2062+187G>C
c.2010G>C (p.Leu670Phe)
c.936G>C (p.Leu312Phe)
n.2089+187G>C
1g.151408507C>TCA420910249POGZc.2184G>A (p.Leu728=)
c.1977G>A (p.Leu659=)
c.2136G>A (p.Leu712=)
c.2157G>A (p.Leu719=)
n.2005G>A
c.1851G>A (p.Leu617=)
c.2109G>A (p.Leu703=)
c.2004G>A (p.Leu668=)
n.47G>A
c.336G>A (p.Leu112=)
c.1950G>A (p.Leu650=)
c.2028G>A (p.Leu676=)
c.1779G>A (p.Leu593=)
n.2062+187G>A
c.2010G>A (p.Leu670=)
c.936G>A (p.Leu312=)
n.2089+187G>A
 gnomAD v4
1g.151408508A>CCA341956732POGZc.2183T>G (p.Leu728Trp)
c.1976T>G (p.Leu659Trp)
c.2135T>G (p.Leu712Trp)
c.2156T>G (p.Leu719Trp)
n.2004T>G
c.1850T>G (p.Leu617Trp)
c.2108T>G (p.Leu703Trp)
c.2003T>G (p.Leu668Trp)
n.46T>G
c.335T>G (p.Leu112Trp)
c.1949T>G (p.Leu650Trp)
c.2027T>G (p.Leu676Trp)
c.1778T>G (p.Leu593Trp)
n.2062+186T>G
c.2009T>G (p.Leu670Trp)
c.935T>G (p.Leu312Trp)
n.2089+186T>G
1g.151408508A>GCA341956738POGZc.2183T>C (p.Leu728Ser)
c.1976T>C (p.Leu659Ser)
c.2135T>C (p.Leu712Ser)
c.2156T>C (p.Leu719Ser)
n.2004T>C
c.1850T>C (p.Leu617Ser)
c.2108T>C (p.Leu703Ser)
c.2003T>C (p.Leu668Ser)
n.46T>C
c.335T>C (p.Leu112Ser)
c.1949T>C (p.Leu650Ser)
c.2027T>C (p.Leu676Ser)
c.1778T>C (p.Leu593Ser)
n.2062+186T>C
c.2009T>C (p.Leu670Ser)
c.935T>C (p.Leu312Ser)
n.2089+186T>C
1g.151408508A>TCA341956735POGZc.2183T>A (p.Leu728Ter)
c.1976T>A (p.Leu659Ter)
c.2135T>A (p.Leu712Ter)
c.2156T>A (p.Leu719Ter)
n.2004T>A
c.1850T>A (p.Leu617Ter)
c.2108T>A (p.Leu703Ter)
c.2003T>A (p.Leu668Ter)
n.46T>A
c.335T>A (p.Leu112Ter)
c.1949T>A (p.Leu650Ter)
c.2027T>A (p.Leu676Ter)
c.1778T>A (p.Leu593Ter)
n.2062+186T>A
c.2009T>A (p.Leu670Ter)
c.935T>A (p.Leu312Ter)
n.2089+186T>A
1g.151408509A>CCA341956745POGZc.2182T>G (p.Leu728Val)
c.1975T>G (p.Leu659Val)
c.2134T>G (p.Leu712Val)
c.2155T>G (p.Leu719Val)
n.2003T>G
c.1849T>G (p.Leu617Val)
c.2107T>G (p.Leu703Val)
c.2002T>G (p.Leu668Val)
n.45T>G
c.334T>G (p.Leu112Val)
c.1948T>G (p.Leu650Val)
c.2026T>G (p.Leu676Val)
c.1777T>G (p.Leu593Val)
n.2062+185T>G
c.2008T>G (p.Leu670Val)
c.934T>G (p.Leu312Val)
n.2089+185T>G
1g.151408509A>GCA420910255POGZc.2182T>C (p.Leu728=)
c.1975T>C (p.Leu659=)
c.2134T>C (p.Leu712=)
c.2155T>C (p.Leu719=)
n.2003T>C
c.1849T>C (p.Leu617=)
c.2107T>C (p.Leu703=)
c.2002T>C (p.Leu668=)
n.45T>C
c.334T>C (p.Leu112=)
c.1948T>C (p.Leu650=)
c.2026T>C (p.Leu676=)
c.1777T>C (p.Leu593=)
n.2062+185T>C
c.2008T>C (p.Leu670=)
c.934T>C (p.Leu312=)
n.2089+185T>C
1g.151408509A>TCA341956747POGZc.2182T>A (p.Leu728Met)
c.1975T>A (p.Leu659Met)
c.2134T>A (p.Leu712Met)
c.2155T>A (p.Leu719Met)
n.2003T>A
c.1849T>A (p.Leu617Met)
c.2107T>A (p.Leu703Met)
c.2002T>A (p.Leu668Met)
n.45T>A
c.334T>A (p.Leu112Met)
c.1948T>A (p.Leu650Met)
c.2026T>A (p.Leu676Met)
c.1777T>A (p.Leu593Met)
n.2062+185T>A
c.2008T>A (p.Leu670Met)
c.934T>A (p.Leu312Met)
n.2089+185T>A
1g.151408510G>ACA420910257POGZc.2181C>T (p.Ala727=)
c.1974C>T (p.Ala658=)
c.2133C>T (p.Ala711=)
c.2154C>T (p.Ala718=)
n.2002C>T
c.1848C>T (p.Ala616=)
c.2106C>T (p.Ala702=)
c.2001C>T (p.Ala667=)
n.44C>T
c.333C>T (p.Ala111=)
c.1947C>T (p.Ala649=)
c.2025C>T (p.Ala675=)
c.1776C>T (p.Ala592=)
n.2062+184C>T
c.2007C>T (p.Ala669=)
c.933C>T (p.Ala311=)
n.2089+184C>T
 gnomAD v4
1g.151408510G>CCA1091257POGZc.2181C>G (p.Ala727=)
c.1974C>G (p.Ala658=)
c.2133C>G (p.Ala711=)
c.2154C>G (p.Ala718=)
n.2002C>G
c.1848C>G (p.Ala616=)
c.2106C>G (p.Ala702=)
c.2001C>G (p.Ala667=)
n.44C>G
c.333C>G (p.Ala111=)
c.1947C>G (p.Ala649=)
c.2025C>G (p.Ala675=)
c.1776C>G (p.Ala592=)
n.2062+184C>G
c.2007C>G (p.Ala669=)
c.933C>G (p.Ala311=)
n.2089+184C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151408510G=CA2479571515POGZc.2181C= (p.Ala727=)
c.1974C= (p.Ala658=)
c.2133C= (p.Ala711=)
c.2154C= (p.Ala718=)
n.2002C=
c.1848C= (p.Ala616=)
c.2106C= (p.Ala702=)
c.2001C= (p.Ala667=)
n.44C=
c.333C= (p.Ala111=)
c.1947C= (p.Ala649=)
c.2025C= (p.Ala675=)
c.1776C= (p.Ala592=)
n.2062+184C=
c.2007C= (p.Ala669=)
c.933C= (p.Ala311=)
n.2089+184C=
1g.151408510G>TCA420910259POGZc.2181C>A (p.Ala727=)
c.1974C>A (p.Ala658=)
c.2133C>A (p.Ala711=)
c.2154C>A (p.Ala718=)
n.2002C>A
c.1848C>A (p.Ala616=)
c.2106C>A (p.Ala702=)
c.2001C>A (p.Ala667=)
n.44C>A
c.333C>A (p.Ala111=)
c.1947C>A (p.Ala649=)
c.2025C>A (p.Ala675=)
c.1776C>A (p.Ala592=)
n.2062+184C>A
c.2007C>A (p.Ala669=)
c.933C>A (p.Ala311=)
n.2089+184C>A
1g.151408511_151408513delCA2521637361POGZc.2179_2181del (p.Ala727del)
c.1972_1974del (p.Ala658del)
c.2131_2133del (p.Ala711del)
c.2152_2154del (p.Ala718del)
n.2000_2002del
c.1846_1848del (p.Ala616del)
c.2104_2106del (p.Ala702del)
c.1999_2001del (p.Ala667del)
n.42_44del
c.331_333del (p.Ala111del)
c.1945_1947del (p.Ala649del)
c.2023_2025del (p.Ala675del)
c.1774_1776del (p.Ala592del)
n.2062+182_2062+184del
c.2005_2007del (p.Ala669del)
c.931_933del (p.Ala311del)
n.2089+182_2089+184del
1g.151408511G>ACA341956749POGZc.2180C>T (p.Ala727Val)
c.1973C>T (p.Ala658Val)
c.2132C>T (p.Ala711Val)
c.2153C>T (p.Ala718Val)
n.2001C>T
c.1847C>T (p.Ala616Val)
c.2105C>T (p.Ala702Val)
c.2000C>T (p.Ala667Val)
n.43C>T
c.332C>T (p.Ala111Val)
c.1946C>T (p.Ala649Val)
c.2024C>T (p.Ala675Val)
c.1775C>T (p.Ala592Val)
n.2062+183C>T
c.2006C>T (p.Ala669Val)
c.932C>T (p.Ala311Val)
n.2089+183C>T
1g.151408511G>CCA341956751POGZc.2180C>G (p.Ala727Gly)
c.1973C>G (p.Ala658Gly)
c.2132C>G (p.Ala711Gly)
c.2153C>G (p.Ala718Gly)
n.2001C>G
c.1847C>G (p.Ala616Gly)
c.2105C>G (p.Ala702Gly)
c.2000C>G (p.Ala667Gly)
n.43C>G
c.332C>G (p.Ala111Gly)
c.1946C>G (p.Ala649Gly)
c.2024C>G (p.Ala675Gly)
c.1775C>G (p.Ala592Gly)
n.2062+183C>G
c.2006C>G (p.Ala669Gly)
c.932C>G (p.Ala311Gly)
n.2089+183C>G
1g.151408511G>TCA341956752POGZc.2180C>A (p.Ala727Asp)
c.1973C>A (p.Ala658Asp)
c.2132C>A (p.Ala711Asp)
c.2153C>A (p.Ala718Asp)
n.2001C>A
c.1847C>A (p.Ala616Asp)
c.2105C>A (p.Ala702Asp)
c.2000C>A (p.Ala667Asp)
n.43C>A
c.332C>A (p.Ala111Asp)
c.1946C>A (p.Ala649Asp)
c.2024C>A (p.Ala675Asp)
c.1775C>A (p.Ala592Asp)
n.2062+183C>A
c.2006C>A (p.Ala669Asp)
c.932C>A (p.Ala311Asp)
n.2089+183C>A
1g.151408512C>ACA341956755POGZc.2179G>T (p.Ala727Ser)
c.1972G>T (p.Ala658Ser)
c.2131G>T (p.Ala711Ser)
c.2152G>T (p.Ala718Ser)
n.2000G>T
c.1846G>T (p.Ala616Ser)
c.2104G>T (p.Ala702Ser)
c.1999G>T (p.Ala667Ser)
n.42G>T
c.331G>T (p.Ala111Ser)
c.1945G>T (p.Ala649Ser)
c.2023G>T (p.Ala675Ser)
c.1774G>T (p.Ala592Ser)
n.2062+182G>T
c.2005G>T (p.Ala669Ser)
c.931G>T (p.Ala311Ser)
n.2089+182G>T
1g.151408512C=CA1143825691POGZc.2179G= (p.Ala727=)
c.1972G= (p.Ala658=)
c.2131G= (p.Ala711=)
c.2152G= (p.Ala718=)
n.2000G=
c.1846G= (p.Ala616=)
c.2104G= (p.Ala702=)
c.1999G= (p.Ala667=)
n.42G=
c.331G= (p.Ala111=)
c.1945G= (p.Ala649=)
c.2023G= (p.Ala675=)
c.1774G= (p.Ala592=)
n.2062+182G=
c.2005G= (p.Ala669=)
c.931G= (p.Ala311=)
n.2089+182G=
1g.151408512C>GCA341956757POGZc.2179G>C (p.Ala727Pro)
c.1972G>C (p.Ala658Pro)
c.2131G>C (p.Ala711Pro)
c.2152G>C (p.Ala718Pro)
n.2000G>C
c.1846G>C (p.Ala616Pro)
c.2104G>C (p.Ala702Pro)
c.1999G>C (p.Ala667Pro)
n.42G>C
c.331G>C (p.Ala111Pro)
c.1945G>C (p.Ala649Pro)
c.2023G>C (p.Ala675Pro)
c.1774G>C (p.Ala592Pro)
n.2062+182G>C
c.2005G>C (p.Ala669Pro)
c.931G>C (p.Ala311Pro)
n.2089+182G>C
1g.151408512C>TCA1091258POGZc.2179G>A (p.Ala727Thr)
c.1972G>A (p.Ala658Thr)
c.2131G>A (p.Ala711Thr)
c.2152G>A (p.Ala718Thr)
n.2000G>A
c.1846G>A (p.Ala616Thr)
c.2104G>A (p.Ala702Thr)
c.1999G>A (p.Ala667Thr)
n.42G>A
c.331G>A (p.Ala111Thr)
c.1945G>A (p.Ala649Thr)
c.2023G>A (p.Ala675Thr)
c.1774G>A (p.Ala592Thr)
n.2062+182G>A
c.2005G>A (p.Ala669Thr)
c.931G>A (p.Ala311Thr)
n.2089+182G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151408513G>ACA420910265POGZc.2178C>T (p.Ser726=)
c.1971C>T (p.Ser657=)
c.2130C>T (p.Ser710=)
c.2151C>T (p.Ser717=)
n.1999C>T
c.1845C>T (p.Ser615=)
c.2103C>T (p.Ser701=)
c.1998C>T (p.Ser666=)
n.41C>T
c.330C>T (p.Ser110=)
c.1944C>T (p.Ser648=)
c.2022C>T (p.Ser674=)
c.1773C>T (p.Ser591=)
n.2062+181C>T
c.2004C>T (p.Ser668=)
c.930C>T (p.Ser310=)
n.2089+181C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.151408513G>CCA341956763POGZc.2178C>G (p.Ser726Arg)
c.1971C>G (p.Ser657Arg)
c.2130C>G (p.Ser710Arg)
c.2151C>G (p.Ser717Arg)
n.1999C>G
c.1845C>G (p.Ser615Arg)
c.2103C>G (p.Ser701Arg)
c.1998C>G (p.Ser666Arg)
n.41C>G
c.330C>G (p.Ser110Arg)
c.1944C>G (p.Ser648Arg)
c.2022C>G (p.Ser674Arg)
c.1773C>G (p.Ser591Arg)
n.2062+181C>G
c.2004C>G (p.Ser668Arg)
c.930C>G (p.Ser310Arg)
n.2089+181C>G
1g.151408513G=CA2479571516POGZc.2178C= (p.Ser726=)
c.1971C= (p.Ser657=)
c.2130C= (p.Ser710=)
c.2151C= (p.Ser717=)
n.1999C=
c.1845C= (p.Ser615=)
c.2103C= (p.Ser701=)
c.1998C= (p.Ser666=)
n.41C=
c.330C= (p.Ser110=)
c.1944C= (p.Ser648=)
c.2022C= (p.Ser674=)
c.1773C= (p.Ser591=)
n.2062+181C=
c.2004C= (p.Ser668=)
c.930C= (p.Ser310=)
n.2089+181C=

Number of alleles fetched