| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891804_25891806del | CA2654122451 | APP | n.2097_2099del n.527_529del n.796_798del c.2130_2132del (p.Val711del) c.1905_1907del (p.Val636del) c.1737_1739del (p.Val580del) c.2073_2075del (p.Val692del) c.2076_2078del (p.Val693del) c.1800_1802del (p.Val601del) c.1962_1964del (p.Val655del) c.2058_2060del (p.Val687del) n.477_479del c.2019_2021del (p.Val674del) c.1851_1853del (p.Val618del) | dbSNP gnomAD v4 |
| 21 | g.25891805C>A | CA409805585 | APP | n.2095G>T n.525G>T n.794G>T c.2128G>T (p.Val710Phe) c.1903G>T (p.Val635Phe) c.1735G>T (p.Val579Phe) c.2071G>T (p.Val691Phe) c.2074G>T (p.Val692Phe) c.1798G>T (p.Val600Phe) c.1960G>T (p.Val654Phe) c.2056G>T (p.Val686Phe) n.475G>T c.2017G>T (p.Val673Phe) c.1849G>T (p.Val617Phe) | |
| 21 | g.25891805C= | CA2383551626 | APP | n.2095G= n.525G= n.794G= c.2128G= (p.Val710=) c.1903G= (p.Val635=) c.1735G= (p.Val579=) c.2071G= (p.Val691=) c.2074G= (p.Val692=) c.1798G= (p.Val600=) c.1960G= (p.Val654=) c.2056G= (p.Val686=) n.475G= c.2017G= (p.Val673=) c.1849G= (p.Val617=) | dbSNP |
| 21 | g.25891805C>G | CA409805586 | APP | n.2095G>C n.525G>C n.794G>C c.2128G>C (p.Val710Leu) c.1903G>C (p.Val635Leu) c.1735G>C (p.Val579Leu) c.2071G>C (p.Val691Leu) c.2074G>C (p.Val692Leu) c.1798G>C (p.Val600Leu) c.1960G>C (p.Val654Leu) c.2056G>C (p.Val686Leu) n.475G>C c.2017G>C (p.Val673Leu) c.1849G>C (p.Val617Leu) | |
| 21 | g.25891805C>T | CA9987053 | APP | n.2095G>A n.525G>A n.794G>A c.2128G>A (p.Val710Ile) c.1903G>A (p.Val635Ile) c.1735G>A (p.Val579Ile) c.2071G>A (p.Val691Ile) c.2074G>A (p.Val692Ile) c.1798G>A (p.Val600Ile) c.1960G>A (p.Val654Ile) c.2056G>A (p.Val686Ile) n.475G>A c.2017G>A (p.Val673Ile) c.1849G>A (p.Val617Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891806A= | CA3243796653 | APP | n.2094T= n.524T= n.793T= c.2127T= (p.Gly709=) c.1902T= (p.Gly634=) c.1734T= (p.Gly578=) c.2070T= (p.Gly690=) c.2073T= (p.Gly691=) c.1797T= (p.Gly599=) c.1959T= (p.Gly653=) c.2055T= (p.Gly685=) n.474T= c.2016T= (p.Gly672=) c.1848T= (p.Gly616=) | dbSNP |
| 21 | g.25891806A>C | CA511686013 | APP | n.2094T>G n.524T>G n.793T>G c.2127T>G (p.Gly709=) c.1902T>G (p.Gly634=) c.1734T>G (p.Gly578=) c.2070T>G (p.Gly690=) c.2073T>G (p.Gly691=) c.1797T>G (p.Gly599=) c.1959T>G (p.Gly653=) c.2055T>G (p.Gly685=) n.474T>G c.2016T>G (p.Gly672=) c.1848T>G (p.Gly616=) | |
| 21 | g.25891806A>G | CA511686011 | APP | n.2094T>C n.524T>C n.793T>C c.2127T>C (p.Gly709=) c.1902T>C (p.Gly634=) c.1734T>C (p.Gly578=) c.2070T>C (p.Gly690=) c.2073T>C (p.Gly691=) c.1797T>C (p.Gly599=) c.1959T>C (p.Gly653=) c.2055T>C (p.Gly685=) n.474T>C c.2016T>C (p.Gly672=) c.1848T>C (p.Gly616=) | dbSNP gnomAD v4 COSMIC |
| 21 | g.25891806A>T | CA511686012 | APP | n.2094T>A n.524T>A n.793T>A c.2127T>A (p.Gly709=) c.1902T>A (p.Gly634=) c.1734T>A (p.Gly578=) c.2070T>A (p.Gly690=) c.2073T>A (p.Gly691=) c.1797T>A (p.Gly599=) c.1959T>A (p.Gly653=) c.2055T>A (p.Gly685=) n.474T>A c.2016T>A (p.Gly672=) c.1848T>A (p.Gly616=) | |
| 21 | g.25891807C>A | CA9987054 | APP | n.2093G>T n.523G>T n.792G>T c.2126G>T (p.Gly709Val) c.1901G>T (p.Gly634Val) c.1733G>T (p.Gly578Val) c.2069G>T (p.Gly690Val) c.2072G>T (p.Gly691Val) c.1796G>T (p.Gly599Val) c.1958G>T (p.Gly653Val) c.2054G>T (p.Gly685Val) n.473G>T c.2015G>T (p.Gly672Val) c.1847G>T (p.Gly616Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891807C= | CA2383551627 | APP | n.2093G= n.523G= n.792G= c.2126G= (p.Gly709=) c.1901G= (p.Gly634=) c.1733G= (p.Gly578=) c.2069G= (p.Gly690=) c.2072G= (p.Gly691=) c.1796G= (p.Gly599=) c.1958G= (p.Gly653=) c.2054G= (p.Gly685=) n.473G= c.2015G= (p.Gly672=) c.1847G= (p.Gly616=) | dbSNP |
| 21 | g.25891807C>G | CA409805588 | APP | n.2093G>C n.523G>C n.792G>C c.2126G>C (p.Gly709Ala) c.1901G>C (p.Gly634Ala) c.1733G>C (p.Gly578Ala) c.2069G>C (p.Gly690Ala) c.2072G>C (p.Gly691Ala) c.1796G>C (p.Gly599Ala) c.1958G>C (p.Gly653Ala) c.2054G>C (p.Gly685Ala) n.473G>C c.2015G>C (p.Gly672Ala) c.1847G>C (p.Gly616Ala) | COSMIC |
| 21 | g.25891807C>T | CA409805587 | APP | n.2093G>A n.523G>A n.792G>A c.2126G>A (p.Gly709Asp) c.1901G>A (p.Gly634Asp) c.1733G>A (p.Gly578Asp) c.2069G>A (p.Gly690Asp) c.2072G>A (p.Gly691Asp) c.1796G>A (p.Gly599Asp) c.1958G>A (p.Gly653Asp) c.2054G>A (p.Gly685Asp) n.473G>A c.2015G>A (p.Gly672Asp) c.1847G>A (p.Gly616Asp) | |
| 21 | g.25891808C>A | CA9987056 | APP | n.2092G>T n.522G>T n.791G>T c.2125G>T (p.Gly709Cys) c.1900G>T (p.Gly634Cys) c.1732G>T (p.Gly578Cys) c.2068G>T (p.Gly690Cys) c.2071G>T (p.Gly691Cys) c.1795G>T (p.Gly599Cys) c.1957G>T (p.Gly653Cys) c.2053G>T (p.Gly685Cys) n.472G>T c.2014G>T (p.Gly672Cys) c.1846G>T (p.Gly616Cys) | dbSNP ExAC |
| 21 | g.25891808C= | CA2383551628 | APP | n.2092G= n.522G= n.791G= c.2125G= (p.Gly709=) c.1900G= (p.Gly634=) c.1732G= (p.Gly578=) c.2068G= (p.Gly690=) c.2071G= (p.Gly691=) c.1795G= (p.Gly599=) c.1957G= (p.Gly653=) c.2053G= (p.Gly685=) n.472G= c.2014G= (p.Gly672=) c.1846G= (p.Gly616=) | dbSNP |
| 21 | g.25891808C>G | CA409805589 | APP | n.2092G>C n.522G>C n.791G>C c.2125G>C (p.Gly709Arg) c.1900G>C (p.Gly634Arg) c.1732G>C (p.Gly578Arg) c.2068G>C (p.Gly690Arg) c.2071G>C (p.Gly691Arg) c.1795G>C (p.Gly599Arg) c.1957G>C (p.Gly653Arg) c.2053G>C (p.Gly685Arg) n.472G>C c.2014G>C (p.Gly672Arg) c.1846G>C (p.Gly616Arg) | |
| 21 | g.25891808C>T | CA9987055 | APP | n.2092G>A n.522G>A n.791G>A c.2125G>A (p.Gly709Ser) c.1900G>A (p.Gly634Ser) c.1732G>A (p.Gly578Ser) c.2068G>A (p.Gly690Ser) c.2071G>A (p.Gly691Ser) c.1795G>A (p.Gly599Ser) c.1957G>A (p.Gly653Ser) c.2053G>A (p.Gly685Ser) n.472G>A c.2014G>A (p.Gly672Ser) c.1846G>A (p.Gly616Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891809G>A | CA9987057 | APP | n.2091C>T n.521C>T n.790C>T c.2124C>T (p.Gly708=) c.1899C>T (p.Gly633=) c.1731C>T (p.Gly577=) c.2067C>T (p.Gly689=) c.2070C>T (p.Gly690=) c.1794C>T (p.Gly598=) c.1956C>T (p.Gly652=) c.2052C>T (p.Gly684=) n.471C>T c.2013C>T (p.Gly671=) c.1845C>T (p.Gly615=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.25891809G>C | CA511686014 | APP | n.2091C>G n.521C>G n.790C>G c.2124C>G (p.Gly708=) c.1899C>G (p.Gly633=) c.1731C>G (p.Gly577=) c.2067C>G (p.Gly689=) c.2070C>G (p.Gly690=) c.1794C>G (p.Gly598=) c.1956C>G (p.Gly652=) c.2052C>G (p.Gly684=) n.471C>G c.2013C>G (p.Gly671=) c.1845C>G (p.Gly615=) | |
| 21 | g.25891809G= | CA2383551629 | APP | n.2091C= n.521C= n.790C= c.2124C= (p.Gly708=) c.1899C= (p.Gly633=) c.1731C= (p.Gly577=) c.2067C= (p.Gly689=) c.2070C= (p.Gly690=) c.1794C= (p.Gly598=) c.1956C= (p.Gly652=) c.2052C= (p.Gly684=) n.471C= c.2013C= (p.Gly671=) c.1845C= (p.Gly615=) | dbSNP |
| 21 | g.25891809G>T | CA511686015 | APP | n.2091C>A n.521C>A n.790C>A c.2124C>A (p.Gly708=) c.1899C>A (p.Gly633=) c.1731C>A (p.Gly577=) c.2067C>A (p.Gly689=) c.2070C>A (p.Gly690=) c.1794C>A (p.Gly598=) c.1956C>A (p.Gly652=) c.2052C>A (p.Gly684=) n.471C>A c.2013C>A (p.Gly671=) c.1845C>A (p.Gly615=) | ClinVar |
| 21 | g.25891810C>A | CA409805590 | APP | n.2090G>T n.520G>T n.789G>T c.2123G>T (p.Gly708Val) c.1898G>T (p.Gly633Val) c.1730G>T (p.Gly577Val) c.2066G>T (p.Gly689Val) c.2069G>T (p.Gly690Val) c.1793G>T (p.Gly598Val) c.1955G>T (p.Gly652Val) c.2051G>T (p.Gly684Val) n.470G>T c.2012G>T (p.Gly671Val) c.1844G>T (p.Gly615Val) | |
| 21 | g.25891810C>G | CA409805592 | APP | n.2090G>C n.520G>C n.789G>C c.2123G>C (p.Gly708Ala) c.1898G>C (p.Gly633Ala) c.1730G>C (p.Gly577Ala) c.2066G>C (p.Gly689Ala) c.2069G>C (p.Gly690Ala) c.1793G>C (p.Gly598Ala) c.1955G>C (p.Gly652Ala) c.2051G>C (p.Gly684Ala) n.470G>C c.2012G>C (p.Gly671Ala) c.1844G>C (p.Gly615Ala) | |
| 21 | g.25891810C>T | CA409805591 | APP | n.2090G>A n.520G>A n.789G>A c.2123G>A (p.Gly708Asp) c.1898G>A (p.Gly633Asp) c.1730G>A (p.Gly577Asp) c.2066G>A (p.Gly689Asp) c.2069G>A (p.Gly690Asp) c.1793G>A (p.Gly598Asp) c.1955G>A (p.Gly652Asp) c.2051G>A (p.Gly684Asp) n.470G>A c.2012G>A (p.Gly671Asp) c.1844G>A (p.Gly615Asp) | |
| 21 | g.25891811_25891815dup | CA2589711790 | APP | n.2086_2090dup n.516_520dup n.785_789dup c.2119_2123dup (p.Gly709TrpfsTer6) c.1894_1898dup (p.Gly634TrpfsTer6) c.1726_1730dup (p.Gly578TrpfsTer6) c.2062_2066dup (p.Gly690TrpfsTer6) c.2065_2069dup (p.Gly691TrpfsTer6) c.1789_1793dup (p.Gly599TrpfsTer6) c.1951_1955dup (p.Gly653TrpfsTer6) c.2047_2051dup (p.Gly685TrpfsTer6) n.466_470dup c.2008_2012dup (p.Gly672TrpfsTer6) c.1840_1844dup (p.Gly616TrpfsTer6) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.25891811C>A | CA409805593 | APP | n.2089G>T n.519G>T n.788G>T c.2122G>T (p.Gly708Cys) c.1897G>T (p.Gly633Cys) c.1729G>T (p.Gly577Cys) c.2065G>T (p.Gly689Cys) c.2068G>T (p.Gly690Cys) c.1792G>T (p.Gly598Cys) c.1954G>T (p.Gly652Cys) c.2050G>T (p.Gly684Cys) n.469G>T c.2011G>T (p.Gly671Cys) c.1843G>T (p.Gly615Cys) | |
| 21 | g.25891811C>G | CA409805594 | APP | n.2089G>C n.519G>C n.788G>C c.2122G>C (p.Gly708Arg) c.1897G>C (p.Gly633Arg) c.1729G>C (p.Gly577Arg) c.2065G>C (p.Gly689Arg) c.2068G>C (p.Gly690Arg) c.1792G>C (p.Gly598Arg) c.1954G>C (p.Gly652Arg) c.2050G>C (p.Gly684Arg) n.469G>C c.2011G>C (p.Gly671Arg) c.1843G>C (p.Gly615Arg) | |
| 21 | g.25891811C>T | CA409805595 | APP | n.2089G>A n.519G>A n.788G>A c.2122G>A (p.Gly708Ser) c.1897G>A (p.Gly633Ser) c.1729G>A (p.Gly577Ser) c.2065G>A (p.Gly689Ser) c.2068G>A (p.Gly690Ser) c.1792G>A (p.Gly598Ser) c.1954G>A (p.Gly652Ser) c.2050G>A (p.Gly684Ser) n.469G>A c.2011G>A (p.Gly671Ser) c.1843G>A (p.Gly615Ser) | |
| 21 | g.25891812C>A | CA511686017 | APP | n.2088G>T n.518G>T n.787G>T c.2121G>T (p.Val707=) c.1896G>T (p.Val632=) c.1728G>T (p.Val576=) c.2064G>T (p.Val688=) c.2067G>T (p.Val689=) c.1791G>T (p.Val597=) c.1953G>T (p.Val651=) c.2049G>T (p.Val683=) n.468G>T c.2010G>T (p.Val670=) c.1842G>T (p.Val614=) | |
| 21 | g.25891812C= | CA3243796654 | APP | n.2088G= n.518G= n.787G= c.2121G= (p.Val707=) c.1896G= (p.Val632=) c.1728G= (p.Val576=) c.2064G= (p.Val688=) c.2067G= (p.Val689=) c.1791G= (p.Val597=) c.1953G= (p.Val651=) c.2049G= (p.Val683=) n.468G= c.2010G= (p.Val670=) c.1842G= (p.Val614=) | dbSNP |
| 21 | g.25891812C>G | CA511686018 | APP | n.2088G>C n.518G>C n.787G>C c.2121G>C (p.Val707=) c.1896G>C (p.Val632=) c.1728G>C (p.Val576=) c.2064G>C (p.Val688=) c.2067G>C (p.Val689=) c.1791G>C (p.Val597=) c.1953G>C (p.Val651=) c.2049G>C (p.Val683=) n.468G>C c.2010G>C (p.Val670=) c.1842G>C (p.Val614=) | |
| 21 | g.25891812C>T | CA511686016 | APP | n.2088G>A n.518G>A n.787G>A c.2121G>A (p.Val707=) c.1896G>A (p.Val632=) c.1728G>A (p.Val576=) c.2064G>A (p.Val688=) c.2067G>A (p.Val689=) c.1791G>A (p.Val597=) c.1953G>A (p.Val651=) c.2049G>A (p.Val683=) n.468G>A c.2010G>A (p.Val670=) c.1842G>A (p.Val614=) | dbSNP gnomAD v4 |
| 21 | g.25891813A>C | CA409805596 | APP | n.2087T>G n.517T>G n.786T>G c.2120T>G (p.Val707Gly) c.1895T>G (p.Val632Gly) c.1727T>G (p.Val576Gly) c.2063T>G (p.Val688Gly) c.2066T>G (p.Val689Gly) c.1790T>G (p.Val597Gly) c.1952T>G (p.Val651Gly) c.2048T>G (p.Val683Gly) n.467T>G c.2009T>G (p.Val670Gly) c.1841T>G (p.Val614Gly) | |
| 21 | g.25891813A>G | CA409805597 | APP | n.2087T>C n.517T>C n.786T>C c.2120T>C (p.Val707Ala) c.1895T>C (p.Val632Ala) c.1727T>C (p.Val576Ala) c.2063T>C (p.Val688Ala) c.2066T>C (p.Val689Ala) c.1790T>C (p.Val597Ala) c.1952T>C (p.Val651Ala) c.2048T>C (p.Val683Ala) n.467T>C c.2009T>C (p.Val670Ala) c.1841T>C (p.Val614Ala) | |
| 21 | g.25891813A>T | CA409805598 | APP | n.2087T>A n.517T>A n.786T>A c.2120T>A (p.Val707Glu) c.1895T>A (p.Val632Glu) c.1727T>A (p.Val576Glu) c.2063T>A (p.Val688Glu) c.2066T>A (p.Val689Glu) c.1790T>A (p.Val597Glu) c.1952T>A (p.Val651Glu) c.2048T>A (p.Val683Glu) n.467T>A c.2009T>A (p.Val670Glu) c.1841T>A (p.Val614Glu) | |
| 21 | g.25891813_25891814insAA | CA2817564447 | APP | n.2087_2088insTT n.517_518insTT n.786_787insTT c.2120_2121insTT (p.Gly708TrpfsTer6) c.1895_1896insTT (p.Gly633TrpfsTer6) c.1727_1728insTT (p.Gly577TrpfsTer6) c.2063_2064insTT (p.Gly689TrpfsTer6) c.2066_2067insTT (p.Gly690TrpfsTer6) c.1790_1791insTT (p.Gly598TrpfsTer6) c.1952_1953insTT (p.Gly652TrpfsTer6) c.2048_2049insTT (p.Gly684TrpfsTer6) n.467_468insTT c.2009_2010insTT (p.Gly671TrpfsTer6) c.1841_1842insTT (p.Gly615TrpfsTer6) | |
| 21 | g.25891814C>A | CA409805599 | APP | n.2086G>T n.516G>T n.785G>T c.2119G>T (p.Val707Leu) c.1894G>T (p.Val632Leu) c.1726G>T (p.Val576Leu) c.2062G>T (p.Val688Leu) c.2065G>T (p.Val689Leu) c.1789G>T (p.Val597Leu) c.1951G>T (p.Val651Leu) c.2047G>T (p.Val683Leu) n.466G>T c.2008G>T (p.Val670Leu) c.1840G>T (p.Val614Leu) | |
| 21 | g.25891814C= | CA2383551630 | APP | n.2086G= n.516G= n.785G= c.2119G= (p.Val707=) c.1894G= (p.Val632=) c.1726G= (p.Val576=) c.2062G= (p.Val688=) c.2065G= (p.Val689=) c.1789G= (p.Val597=) c.1951G= (p.Val651=) c.2047G= (p.Val683=) n.466G= c.2008G= (p.Val670=) c.1840G= (p.Val614=) | dbSNP |
| 21 | g.25891814C>G | CA409805600 | APP | n.2086G>C n.516G>C n.785G>C c.2119G>C (p.Val707Leu) c.1894G>C (p.Val632Leu) c.1726G>C (p.Val576Leu) c.2062G>C (p.Val688Leu) c.2065G>C (p.Val689Leu) c.1789G>C (p.Val597Leu) c.1951G>C (p.Val651Leu) c.2047G>C (p.Val683Leu) n.466G>C c.2008G>C (p.Val670Leu) c.1840G>C (p.Val614Leu) | |
| 21 | g.25891814C>T | CA9987058 | APP | n.2086G>A n.516G>A n.785G>A c.2119G>A (p.Val707Met) c.1894G>A (p.Val632Met) c.1726G>A (p.Val576Met) c.2062G>A (p.Val688Met) c.2065G>A (p.Val689Met) c.1789G>A (p.Val597Met) c.1951G>A (p.Val651Met) c.2047G>A (p.Val683Met) n.466G>A c.2008G>A (p.Val670Met) c.1840G>A (p.Val614Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.25891814_25891815insACACCCAACA | CA2817564448 | APP | n.2085_2086insTGTTGGGTGT n.515_516insTGTTGGGTGT n.784_785insTGTTGGGTGT c.2118_2119insTGTTGGGTGT (p.Val707CysfsTer?) c.1893_1894insTGTTGGGTGT (p.Val632CysfsTer?) c.1725_1726insTGTTGGGTGT (p.Val576CysfsTer?) c.2061_2062insTGTTGGGTGT (p.Val688CysfsTer?) c.2064_2065insTGTTGGGTGT (p.Val689CysfsTer?) c.1788_1789insTGTTGGGTGT (p.Val597CysfsTer?) c.1950_1951insTGTTGGGTGT (p.Val651CysfsTer?) c.2046_2047insTGTTGGGTGT (p.Val683CysfsTer?) n.465_466insTGTTGGGTGT c.2007_2008insTGTTGGGTGT (p.Val670CysfsTer?) c.1839_1840insTGTTGGGTGT (p.Val614CysfsTer?) | |
| 21 | g.25891815C>A | CA409805601 | APP | n.2085G>T n.515G>T n.784G>T c.2118G>T (p.Met706Ile) c.1893G>T (p.Met631Ile) c.1725G>T (p.Met575Ile) c.2061G>T (p.Met687Ile) c.2064G>T (p.Met688Ile) c.1788G>T (p.Met596Ile) c.1950G>T (p.Met650Ile) c.2046G>T (p.Met682Ile) n.465G>T c.2007G>T (p.Met669Ile) c.1839G>T (p.Met613Ile) | dbSNP gnomAD v4 |
| 21 | g.25891815C= | CA3243796655 | APP | n.2085G= n.515G= n.784G= c.2118G= (p.Met706=) c.1893G= (p.Met631=) c.1725G= (p.Met575=) c.2061G= (p.Met687=) c.2064G= (p.Met688=) c.1788G= (p.Met596=) c.1950G= (p.Met650=) c.2046G= (p.Met682=) n.465G= c.2007G= (p.Met669=) c.1839G= (p.Met613=) | dbSNP |
| 21 | g.25891815C>G | CA409805602 | APP | n.2085G>C n.515G>C n.784G>C c.2118G>C (p.Met706Ile) c.1893G>C (p.Met631Ile) c.1725G>C (p.Met575Ile) c.2061G>C (p.Met687Ile) c.2064G>C (p.Met688Ile) c.1788G>C (p.Met596Ile) c.1950G>C (p.Met650Ile) c.2046G>C (p.Met682Ile) n.465G>C c.2007G>C (p.Met669Ile) c.1839G>C (p.Met613Ile) | |
| 21 | g.25891815C>T | CA409805603 | APP | n.2085G>A n.515G>A n.784G>A c.2118G>A (p.Met706Ile) c.1893G>A (p.Met631Ile) c.1725G>A (p.Met575Ile) c.2061G>A (p.Met687Ile) c.2064G>A (p.Met688Ile) c.1788G>A (p.Met596Ile) c.1950G>A (p.Met650Ile) c.2046G>A (p.Met682Ile) n.465G>A c.2007G>A (p.Met669Ile) c.1839G>A (p.Met613Ile) | |
| 21 | g.25891815_25891817del | CA2654122462 | APP | n.2083_2085del n.513_515del n.782_784del c.2116_2118del (p.Met706del) c.1891_1893del (p.Met631del) c.1723_1725del (p.Met575del) c.2059_2061del (p.Met687del) c.2062_2064del (p.Met688del) c.1786_1788del (p.Met596del) c.1948_1950del (p.Met650del) c.2044_2046del (p.Met682del) n.463_465del c.2005_2007del (p.Met669del) c.1837_1839del (p.Met613del) | dbSNP gnomAD v4 |
| 21 | g.25891816A= | CA2383551631 | APP | n.2084T= n.514T= n.783T= c.2117T= (p.Met706=) c.1892T= (p.Met631=) c.1724T= (p.Met575=) c.2060T= (p.Met687=) c.2063T= (p.Met688=) c.1787T= (p.Met596=) c.1949T= (p.Met650=) c.2045T= (p.Met682=) n.464T= c.2006T= (p.Met669=) c.1838T= (p.Met613=) | dbSNP |
| 21 | g.25891816A>C | CA409805605 | APP | n.2084T>G n.514T>G n.783T>G c.2117T>G (p.Met706Arg) c.1892T>G (p.Met631Arg) c.1724T>G (p.Met575Arg) c.2060T>G (p.Met687Arg) c.2063T>G (p.Met688Arg) c.1787T>G (p.Met596Arg) c.1949T>G (p.Met650Arg) c.2045T>G (p.Met682Arg) n.464T>G c.2006T>G (p.Met669Arg) c.1838T>G (p.Met613Arg) | |
| 21 | g.25891816A>G | CA409805606 | APP | n.2084T>C n.514T>C n.783T>C c.2117T>C (p.Met706Thr) c.1892T>C (p.Met631Thr) c.1724T>C (p.Met575Thr) c.2060T>C (p.Met687Thr) c.2063T>C (p.Met688Thr) c.1787T>C (p.Met596Thr) c.1949T>C (p.Met650Thr) c.2045T>C (p.Met682Thr) n.464T>C c.2006T>C (p.Met669Thr) c.1838T>C (p.Met613Thr) | dbSNP |
| 21 | g.25891816A>T | CA409805604 | APP | n.2084T>A n.514T>A n.783T>A c.2117T>A (p.Met706Lys) c.1892T>A (p.Met631Lys) c.1724T>A (p.Met575Lys) c.2060T>A (p.Met687Lys) c.2063T>A (p.Met688Lys) c.1787T>A (p.Met596Lys) c.1949T>A (p.Met650Lys) c.2045T>A (p.Met682Lys) n.464T>A c.2006T>A (p.Met669Lys) c.1838T>A (p.Met613Lys) |