| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.151408493G>A | CA16616971 | POGZ | c.2198C>T (p.Pro733Leu) c.1991C>T (p.Pro664Leu) c.2150C>T (p.Pro717Leu) c.2171C>T (p.Pro724Leu) n.2019C>T c.1865C>T (p.Pro622Leu) c.2123C>T (p.Pro708Leu) c.2018C>T (p.Pro673Leu) n.61C>T c.350C>T (p.Pro117Leu) c.1964C>T (p.Pro655Leu) c.2042C>T (p.Pro681Leu) c.1793C>T (p.Pro598Leu) n.2062+201C>T c.2024C>T (p.Pro675Leu) c.950C>T (p.Pro317Leu) n.2089+201C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.151408493G>C | CA341956633 | POGZ | c.2198C>G (p.Pro733Arg) c.1991C>G (p.Pro664Arg) c.2150C>G (p.Pro717Arg) c.2171C>G (p.Pro724Arg) n.2019C>G c.1865C>G (p.Pro622Arg) c.2123C>G (p.Pro708Arg) c.2018C>G (p.Pro673Arg) n.61C>G c.350C>G (p.Pro117Arg) c.1964C>G (p.Pro655Arg) c.2042C>G (p.Pro681Arg) c.1793C>G (p.Pro598Arg) n.2062+201C>G c.2024C>G (p.Pro675Arg) c.950C>G (p.Pro317Arg) n.2089+201C>G | |
| 1 | g.151408493G= | CA2479571510 | POGZ | c.2198C= (p.Pro733=) c.1991C= (p.Pro664=) c.2150C= (p.Pro717=) c.2171C= (p.Pro724=) n.2019C= c.1865C= (p.Pro622=) c.2123C= (p.Pro708=) c.2018C= (p.Pro673=) n.61C= c.350C= (p.Pro117=) c.1964C= (p.Pro655=) c.2042C= (p.Pro681=) c.1793C= (p.Pro598=) n.2062+201C= c.2024C= (p.Pro675=) c.950C= (p.Pro317=) n.2089+201C= | |
| 1 | g.151408493G>T | CA341956635 | POGZ | c.2198C>A (p.Pro733Gln) c.1991C>A (p.Pro664Gln) c.2150C>A (p.Pro717Gln) c.2171C>A (p.Pro724Gln) n.2019C>A c.1865C>A (p.Pro622Gln) c.2123C>A (p.Pro708Gln) c.2018C>A (p.Pro673Gln) n.61C>A c.350C>A (p.Pro117Gln) c.1964C>A (p.Pro655Gln) c.2042C>A (p.Pro681Gln) c.1793C>A (p.Pro598Gln) n.2062+201C>A c.2024C>A (p.Pro675Gln) c.950C>A (p.Pro317Gln) n.2089+201C>A | |
| 1 | g.151408494G>A | CA341956637 | POGZ | c.2197C>T (p.Pro733Ser) c.1990C>T (p.Pro664Ser) c.2149C>T (p.Pro717Ser) c.2170C>T (p.Pro724Ser) n.2018C>T c.1864C>T (p.Pro622Ser) c.2122C>T (p.Pro708Ser) c.2017C>T (p.Pro673Ser) n.60C>T c.349C>T (p.Pro117Ser) c.1963C>T (p.Pro655Ser) c.2041C>T (p.Pro681Ser) c.1792C>T (p.Pro598Ser) n.2062+200C>T c.2023C>T (p.Pro675Ser) c.949C>T (p.Pro317Ser) n.2089+200C>T | |
| 1 | g.151408494G>C | CA341956638 | POGZ | c.2197C>G (p.Pro733Ala) c.1990C>G (p.Pro664Ala) c.2149C>G (p.Pro717Ala) c.2170C>G (p.Pro724Ala) n.2018C>G c.1864C>G (p.Pro622Ala) c.2122C>G (p.Pro708Ala) c.2017C>G (p.Pro673Ala) n.60C>G c.349C>G (p.Pro117Ala) c.1963C>G (p.Pro655Ala) c.2041C>G (p.Pro681Ala) c.1792C>G (p.Pro598Ala) n.2062+200C>G c.2023C>G (p.Pro675Ala) c.949C>G (p.Pro317Ala) n.2089+200C>G | |
| 1 | g.151408494G>T | CA341956642 | POGZ | c.2197C>A (p.Pro733Thr) c.1990C>A (p.Pro664Thr) c.2149C>A (p.Pro717Thr) c.2170C>A (p.Pro724Thr) n.2018C>A c.1864C>A (p.Pro622Thr) c.2122C>A (p.Pro708Thr) c.2017C>A (p.Pro673Thr) n.60C>A c.349C>A (p.Pro117Thr) c.1963C>A (p.Pro655Thr) c.2041C>A (p.Pro681Thr) c.1792C>A (p.Pro598Thr) n.2062+200C>A c.2023C>A (p.Pro675Thr) c.949C>A (p.Pro317Thr) n.2089+200C>A | COSMIC COSMIC |
| 1 | g.151408495T>A | CA420910210 | POGZ | c.2196A>T (p.Ala732=) c.1989A>T (p.Ala663=) c.2148A>T (p.Ala716=) c.2169A>T (p.Ala723=) n.2017A>T c.1863A>T (p.Ala621=) c.2121A>T (p.Ala707=) c.2016A>T (p.Ala672=) n.59A>T c.348A>T (p.Ala116=) c.1962A>T (p.Ala654=) c.2040A>T (p.Ala680=) c.1791A>T (p.Ala597=) n.2062+199A>T c.2022A>T (p.Ala674=) c.948A>T (p.Ala316=) n.2089+199A>T | |
| 1 | g.151408495T>C | CA420910212 | POGZ | c.2196A>G (p.Ala732=) c.1989A>G (p.Ala663=) c.2148A>G (p.Ala716=) c.2169A>G (p.Ala723=) n.2017A>G c.1863A>G (p.Ala621=) c.2121A>G (p.Ala707=) c.2016A>G (p.Ala672=) n.59A>G c.348A>G (p.Ala116=) c.1962A>G (p.Ala654=) c.2040A>G (p.Ala680=) c.1791A>G (p.Ala597=) n.2062+199A>G c.2022A>G (p.Ala674=) c.948A>G (p.Ala316=) n.2089+199A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.151408495T>G | CA420910213 | POGZ | c.2196A>C (p.Ala732=) c.1989A>C (p.Ala663=) c.2148A>C (p.Ala716=) c.2169A>C (p.Ala723=) n.2017A>C c.1863A>C (p.Ala621=) c.2121A>C (p.Ala707=) c.2016A>C (p.Ala672=) n.59A>C c.348A>C (p.Ala116=) c.1962A>C (p.Ala654=) c.2040A>C (p.Ala680=) c.1791A>C (p.Ala597=) n.2062+199A>C c.2022A>C (p.Ala674=) c.948A>C (p.Ala316=) n.2089+199A>C | |
| 1 | g.151408495T= | CA2479571511 | POGZ | c.2196A= (p.Ala732=) c.1989A= (p.Ala663=) c.2148A= (p.Ala716=) c.2169A= (p.Ala723=) n.2017A= c.1863A= (p.Ala621=) c.2121A= (p.Ala707=) c.2016A= (p.Ala672=) n.59A= c.348A= (p.Ala116=) c.1962A= (p.Ala654=) c.2040A= (p.Ala680=) c.1791A= (p.Ala597=) n.2062+199A= c.2022A= (p.Ala674=) c.948A= (p.Ala316=) n.2089+199A= | |
| 1 | g.151408496G>A | CA341956645 | POGZ | c.2195C>T (p.Ala732Val) c.1988C>T (p.Ala663Val) c.2147C>T (p.Ala716Val) c.2168C>T (p.Ala723Val) n.2016C>T c.1862C>T (p.Ala621Val) c.2120C>T (p.Ala707Val) c.2015C>T (p.Ala672Val) n.58C>T c.347C>T (p.Ala116Val) c.1961C>T (p.Ala654Val) c.2039C>T (p.Ala680Val) c.1790C>T (p.Ala597Val) n.2062+198C>T c.2021C>T (p.Ala674Val) c.947C>T (p.Ala316Val) n.2089+198C>T | gnomAD v4 |
| 1 | g.151408496G>C | CA341956649 | POGZ | c.2195C>G (p.Ala732Gly) c.1988C>G (p.Ala663Gly) c.2147C>G (p.Ala716Gly) c.2168C>G (p.Ala723Gly) n.2016C>G c.1862C>G (p.Ala621Gly) c.2120C>G (p.Ala707Gly) c.2015C>G (p.Ala672Gly) n.58C>G c.347C>G (p.Ala116Gly) c.1961C>G (p.Ala654Gly) c.2039C>G (p.Ala680Gly) c.1790C>G (p.Ala597Gly) n.2062+198C>G c.2021C>G (p.Ala674Gly) c.947C>G (p.Ala316Gly) n.2089+198C>G | |
| 1 | g.151408496G>T | CA341956647 | POGZ | c.2195C>A (p.Ala732Glu) c.1988C>A (p.Ala663Glu) c.2147C>A (p.Ala716Glu) c.2168C>A (p.Ala723Glu) n.2016C>A c.1862C>A (p.Ala621Glu) c.2120C>A (p.Ala707Glu) c.2015C>A (p.Ala672Glu) n.58C>A c.347C>A (p.Ala116Glu) c.1961C>A (p.Ala654Glu) c.2039C>A (p.Ala680Glu) c.1790C>A (p.Ala597Glu) n.2062+198C>A c.2021C>A (p.Ala674Glu) c.947C>A (p.Ala316Glu) n.2089+198C>A | |
| 1 | g.151408497C>A | CA341956654 | POGZ | c.2194G>T (p.Ala732Ser) c.1987G>T (p.Ala663Ser) c.2146G>T (p.Ala716Ser) c.2167G>T (p.Ala723Ser) n.2015G>T c.1861G>T (p.Ala621Ser) c.2119G>T (p.Ala707Ser) c.2014G>T (p.Ala672Ser) n.57G>T c.346G>T (p.Ala116Ser) c.1960G>T (p.Ala654Ser) c.2038G>T (p.Ala680Ser) c.1789G>T (p.Ala597Ser) n.2062+197G>T c.2020G>T (p.Ala674Ser) c.946G>T (p.Ala316Ser) n.2089+197G>T | |
| 1 | g.151408497C>G | CA341956657 | POGZ | c.2194G>C (p.Ala732Pro) c.1987G>C (p.Ala663Pro) c.2146G>C (p.Ala716Pro) c.2167G>C (p.Ala723Pro) n.2015G>C c.1861G>C (p.Ala621Pro) c.2119G>C (p.Ala707Pro) c.2014G>C (p.Ala672Pro) n.57G>C c.346G>C (p.Ala116Pro) c.1960G>C (p.Ala654Pro) c.2038G>C (p.Ala680Pro) c.1789G>C (p.Ala597Pro) n.2062+197G>C c.2020G>C (p.Ala674Pro) c.946G>C (p.Ala316Pro) n.2089+197G>C | |
| 1 | g.151408497C>T | CA341956660 | POGZ | c.2194G>A (p.Ala732Thr) c.1987G>A (p.Ala663Thr) c.2146G>A (p.Ala716Thr) c.2167G>A (p.Ala723Thr) n.2015G>A c.1861G>A (p.Ala621Thr) c.2119G>A (p.Ala707Thr) c.2014G>A (p.Ala672Thr) n.57G>A c.346G>A (p.Ala116Thr) c.1960G>A (p.Ala654Thr) c.2038G>A (p.Ala680Thr) c.1789G>A (p.Ala597Thr) n.2062+197G>A c.2020G>A (p.Ala674Thr) c.946G>A (p.Ala316Thr) n.2089+197G>A | |
| 1 | g.151408498T>A | CA420910219 | POGZ | c.2193A>T (p.Ala731=) c.1986A>T (p.Ala662=) c.2145A>T (p.Ala715=) c.2166A>T (p.Ala722=) n.2014A>T c.1860A>T (p.Ala620=) c.2118A>T (p.Ala706=) c.2013A>T (p.Ala671=) n.56A>T c.345A>T (p.Ala115=) c.1959A>T (p.Ala653=) c.2037A>T (p.Ala679=) c.1788A>T (p.Ala596=) n.2062+196A>T c.2019A>T (p.Ala673=) c.945A>T (p.Ala315=) n.2089+196A>T | COSMIC COSMIC |
| 1 | g.151408498T>C | CA420910220 | POGZ | c.2193A>G (p.Ala731=) c.1986A>G (p.Ala662=) c.2145A>G (p.Ala715=) c.2166A>G (p.Ala722=) n.2014A>G c.1860A>G (p.Ala620=) c.2118A>G (p.Ala706=) c.2013A>G (p.Ala671=) n.56A>G c.345A>G (p.Ala115=) c.1959A>G (p.Ala653=) c.2037A>G (p.Ala679=) c.1788A>G (p.Ala596=) n.2062+196A>G c.2019A>G (p.Ala673=) c.945A>G (p.Ala315=) n.2089+196A>G | dbSNP |
| 1 | g.151408498T>G | CA420910224 | POGZ | c.2193A>C (p.Ala731=) c.1986A>C (p.Ala662=) c.2145A>C (p.Ala715=) c.2166A>C (p.Ala722=) n.2014A>C c.1860A>C (p.Ala620=) c.2118A>C (p.Ala706=) c.2013A>C (p.Ala671=) n.56A>C c.345A>C (p.Ala115=) c.1959A>C (p.Ala653=) c.2037A>C (p.Ala679=) c.1788A>C (p.Ala596=) n.2062+196A>C c.2019A>C (p.Ala673=) c.945A>C (p.Ala315=) n.2089+196A>C | dbSNP gnomAD v4 |
| 1 | g.151408498T= | CA2479571512 | POGZ | c.2193A= (p.Ala731=) c.1986A= (p.Ala662=) c.2145A= (p.Ala715=) c.2166A= (p.Ala722=) n.2014A= c.1860A= (p.Ala620=) c.2118A= (p.Ala706=) c.2013A= (p.Ala671=) n.56A= c.345A= (p.Ala115=) c.1959A= (p.Ala653=) c.2037A= (p.Ala679=) c.1788A= (p.Ala596=) n.2062+196A= c.2019A= (p.Ala673=) c.945A= (p.Ala315=) n.2089+196A= | |
| 1 | g.151408499G>A | CA341956662 | POGZ | c.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 | |
| 1 | g.151408499G>C | CA341956664 | POGZ | c.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 | |
| 1 | g.151408499G>T | CA341956667 | POGZ | c.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 | |
| 1 | g.151408500C>A | CA341956668 | POGZ | c.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 |
| 1 | g.151408500C= | CA2479571513 | POGZ | c.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= | |
| 1 | g.151408500C>G | CA341956669 | POGZ | c.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 | |
| 1 | g.151408500C>T | CA341956670 | POGZ | c.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 |
| 1 | g.151408501C>A | CA341956673 | POGZ | c.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 | |
| 1 | g.151408501C>G | CA341956682 | POGZ | c.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 | |
| 1 | g.151408501C>T | CA420910231 | POGZ | c.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 | |
| 1 | g.151408502T>A | CA341956694 | POGZ | c.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 | |
| 1 | g.151408502T>C | CA341956685 | POGZ | c.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 | |
| 1 | g.151408502T>G | CA341956690 | POGZ | c.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 | |
| 1 | g.151408503C>A | CA341956698 | POGZ | c.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 | |
| 1 | g.151408503C>G | CA341956701 | POGZ | c.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 | |
| 1 | g.151408503C>T | CA341956703 | POGZ | c.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 | |
| 1 | g.151408504C>A | CA341956705 | POGZ | c.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 | |
| 1 | g.151408504C>G | CA341956706 | POGZ | c.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 | |
| 1 | g.151408504C>T | CA420910238 | POGZ | c.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 | |
| 1 | g.151408505T>A | CA341956707 | POGZ | c.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 | |
| 1 | g.151408505T>C | CA341956710 | POGZ | c.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 |
| 1 | g.151408505T>G | CA341956712 | POGZ | c.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 | |
| 1 | g.151408506G>A | CA341956717 | POGZ | c.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 | |
| 1 | g.151408506G>C | CA341956719 | POGZ | c.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 |
| 1 | g.151408506G= | CA2479571514 | POGZ | c.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= | |
| 1 | g.151408506G>T | CA341956728 | POGZ | c.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 | |
| 1 | g.151408507C>A | CA341956730 | POGZ | c.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 |
| 1 | g.151408507C>G | CA341956729 | POGZ | c.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 | |
| 1 | g.151408507C>T | CA420910249 | POGZ | c.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 |