Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.25891789A=CA2383551616APPc.2144T= (p.Val715=)
c.1919T= (p.Val640=)
c.1751T= (p.Val584=)
c.2087T= (p.Val696=)
c.2090T= (p.Val697=)
c.1814T= (p.Val605=)
c.1976T= (p.Val659=)
c.2072T= (p.Val691=)
n.491T=
c.2033T= (p.Val678=)
c.1865T= (p.Val622=)
21g.25891789A>CCA409805557APPc.2144T>G (p.Val715Gly)
c.1919T>G (p.Val640Gly)
c.1751T>G (p.Val584Gly)
c.2087T>G (p.Val696Gly)
c.2090T>G (p.Val697Gly)
c.1814T>G (p.Val605Gly)
c.1976T>G (p.Val659Gly)
c.2072T>G (p.Val691Gly)
n.491T>G
c.2033T>G (p.Val678Gly)
c.1865T>G (p.Val622Gly)
gnomAD
21g.25891789A>GCA225507APPc.2144T>C (p.Val715Ala)
c.1919T>C (p.Val640Ala)
c.1751T>C (p.Val584Ala)
c.2087T>C (p.Val696Ala)
c.2090T>C (p.Val697Ala)
c.1814T>C (p.Val605Ala)
c.1976T>C (p.Val659Ala)
c.2072T>C (p.Val691Ala)
n.491T>C
c.2033T>C (p.Val678Ala)
c.1865T>C (p.Val622Ala)
ClinVar dbSNP
21g.25891789A>TCA409805558APPc.2144T>A (p.Val715Glu)
c.1919T>A (p.Val640Glu)
c.1751T>A (p.Val584Glu)
c.2087T>A (p.Val696Glu)
c.2090T>A (p.Val697Glu)
c.1814T>A (p.Val605Glu)
c.1976T>A (p.Val659Glu)
c.2072T>A (p.Val691Glu)
n.491T>A
c.2033T>A (p.Val678Glu)
c.1865T>A (p.Val622Glu)
21g.25891790C>ACA409805559APPc.2143G>T (p.Val715Leu)
c.1918G>T (p.Val640Leu)
c.1750G>T (p.Val584Leu)
c.2086G>T (p.Val696Leu)
c.2089G>T (p.Val697Leu)
c.1813G>T (p.Val605Leu)
c.1975G>T (p.Val659Leu)
c.2071G>T (p.Val691Leu)
n.490G>T
c.2032G>T (p.Val678Leu)
c.1864G>T (p.Val622Leu)
21g.25891790C=CA2383551617APPc.2143G= (p.Val715=)
c.1918G= (p.Val640=)
c.1750G= (p.Val584=)
c.2086G= (p.Val696=)
c.2089G= (p.Val697=)
c.1813G= (p.Val605=)
c.1975G= (p.Val659=)
c.2071G= (p.Val691=)
n.490G=
c.2032G= (p.Val678=)
c.1864G= (p.Val622=)
21g.25891790C>GCA409805560APPc.2143G>C (p.Val715Leu)
c.1918G>C (p.Val640Leu)
c.1750G>C (p.Val584Leu)
c.2086G>C (p.Val696Leu)
c.2089G>C (p.Val697Leu)
c.1813G>C (p.Val605Leu)
c.1975G>C (p.Val659Leu)
c.2071G>C (p.Val691Leu)
n.490G>C
c.2032G>C (p.Val678Leu)
c.1864G>C (p.Val622Leu)
21g.25891790C>TCA127800APPc.2143G>A (p.Val715Met)
c.1918G>A (p.Val640Met)
c.1750G>A (p.Val584Met)
c.2086G>A (p.Val696Met)
c.2089G>A (p.Val697Met)
c.1813G>A (p.Val605Met)
c.1975G>A (p.Val659Met)
c.2071G>A (p.Val691Met)
n.490G>A
c.2032G>A (p.Val678Met)
c.1864G>A (p.Val622Met)
ClinVar dbSNP
21g.25891791T>ACA511685999APPc.2142A>T (p.Thr714=)
c.1917A>T (p.Thr639=)
c.1749A>T (p.Thr583=)
c.2085A>T (p.Thr695=)
c.2088A>T (p.Thr696=)
c.1812A>T (p.Thr604=)
c.1974A>T (p.Thr658=)
c.2070A>T (p.Thr690=)
n.489A>T
c.2031A>T (p.Thr677=)
c.1863A>T (p.Thr621=)
21g.25891791T>CCA511686001APPc.2142A>G (p.Thr714=)
c.1917A>G (p.Thr639=)
c.1749A>G (p.Thr583=)
c.2085A>G (p.Thr695=)
c.2088A>G (p.Thr696=)
c.1812A>G (p.Thr604=)
c.1974A>G (p.Thr658=)
c.2070A>G (p.Thr690=)
n.489A>G
c.2031A>G (p.Thr677=)
c.1863A>G (p.Thr621=)
21g.25891791T>GCA511686000APPc.2142A>C (p.Thr714=)
c.1917A>C (p.Thr639=)
c.1749A>C (p.Thr583=)
c.2085A>C (p.Thr695=)
c.2088A>C (p.Thr696=)
c.1812A>C (p.Thr604=)
c.1974A>C (p.Thr658=)
c.2070A>C (p.Thr690=)
n.489A>C
c.2031A>C (p.Thr677=)
c.1863A>C (p.Thr621=)
21g.25891792G>ACA127803APPc.2141C>T (p.Thr714Ile)
c.1916C>T (p.Thr639Ile)
c.1748C>T (p.Thr583Ile)
c.2084C>T (p.Thr695Ile)
c.2087C>T (p.Thr696Ile)
c.1811C>T (p.Thr604Ile)
c.1973C>T (p.Thr658Ile)
c.2069C>T (p.Thr690Ile)
n.488C>T
c.2030C>T (p.Thr677Ile)
c.1862C>T (p.Thr621Ile)
ClinVar dbSNP
21g.25891792G>CCA409805561APPc.2141C>G (p.Thr714Arg)
c.1916C>G (p.Thr639Arg)
c.1748C>G (p.Thr583Arg)
c.2084C>G (p.Thr695Arg)
c.2087C>G (p.Thr696Arg)
c.1811C>G (p.Thr604Arg)
c.1973C>G (p.Thr658Arg)
c.2069C>G (p.Thr690Arg)
n.488C>G
c.2030C>G (p.Thr677Arg)
c.1862C>G (p.Thr621Arg)
21g.25891792G=CA2383551618APPc.2141C= (p.Thr714=)
c.1916C= (p.Thr639=)
c.1748C= (p.Thr583=)
c.2084C= (p.Thr695=)
c.2087C= (p.Thr696=)
c.1811C= (p.Thr604=)
c.1973C= (p.Thr658=)
c.2069C= (p.Thr690=)
n.488C=
c.2030C= (p.Thr677=)
c.1862C= (p.Thr621=)
21g.25891792G>TCA409805562APPc.2141C>A (p.Thr714Lys)
c.1916C>A (p.Thr639Lys)
c.1748C>A (p.Thr583Lys)
c.2084C>A (p.Thr695Lys)
c.2087C>A (p.Thr696Lys)
c.1811C>A (p.Thr604Lys)
c.1973C>A (p.Thr658Lys)
c.2069C>A (p.Thr690Lys)
n.488C>A
c.2030C>A (p.Thr677Lys)
c.1862C>A (p.Thr621Lys)
21g.25891793T>ACA409805563APPc.2140A>T (p.Thr714Ser)
c.1915A>T (p.Thr639Ser)
c.1747A>T (p.Thr583Ser)
c.2083A>T (p.Thr695Ser)
c.2086A>T (p.Thr696Ser)
c.1810A>T (p.Thr604Ser)
c.1972A>T (p.Thr658Ser)
c.2068A>T (p.Thr690Ser)
n.487A>T
c.2029A>T (p.Thr677Ser)
c.1861A>T (p.Thr621Ser)
21g.25891793T>CCA127814APPc.2140A>G (p.Thr714Ala)
c.1915A>G (p.Thr639Ala)
c.1747A>G (p.Thr583Ala)
c.2083A>G (p.Thr695Ala)
c.2086A>G (p.Thr696Ala)
c.1810A>G (p.Thr604Ala)
c.1972A>G (p.Thr658Ala)
c.2068A>G (p.Thr690Ala)
n.487A>G
c.2029A>G (p.Thr677Ala)
c.1861A>G (p.Thr621Ala)
ClinVar dbSNP COSMIC
21g.25891793T>GCA409805564APPc.2140A>C (p.Thr714Pro)
c.1915A>C (p.Thr639Pro)
c.1747A>C (p.Thr583Pro)
c.2083A>C (p.Thr695Pro)
c.2086A>C (p.Thr696Pro)
c.1810A>C (p.Thr604Pro)
c.1972A>C (p.Thr658Pro)
c.2068A>C (p.Thr690Pro)
n.487A>C
c.2029A>C (p.Thr677Pro)
c.1861A>C (p.Thr621Pro)
21g.25891793T=CA2383551619APPc.2140A= (p.Thr714=)
c.1915A= (p.Thr639=)
c.1747A= (p.Thr583=)
c.2083A= (p.Thr695=)
c.2086A= (p.Thr696=)
c.1810A= (p.Thr604=)
c.1972A= (p.Thr658=)
c.2068A= (p.Thr690=)
n.487A=
c.2029A= (p.Thr677=)
c.1861A= (p.Thr621=)
21g.25891794C>ACA511686003APPc.2139G>T (p.Ala713=)
c.1914G>T (p.Ala638=)
c.1746G>T (p.Ala582=)
c.2082G>T (p.Ala694=)
c.2085G>T (p.Ala695=)
c.1809G>T (p.Ala603=)
c.1971G>T (p.Ala657=)
c.2067G>T (p.Ala689=)
n.486G>T
c.2028G>T (p.Ala676=)
c.1860G>T (p.Ala620=)
21g.25891794C=CA2383551620APPc.2139G= (p.Ala713=)
c.1914G= (p.Ala638=)
c.1746G= (p.Ala582=)
c.2082G= (p.Ala694=)
c.2085G= (p.Ala695=)
c.1809G= (p.Ala603=)
c.1971G= (p.Ala657=)
c.2067G= (p.Ala689=)
n.486G=
c.2028G= (p.Ala676=)
c.1860G= (p.Ala620=)
21g.25891794C>GCA511686002APPc.2139G>C (p.Ala713=)
c.1914G>C (p.Ala638=)
c.1746G>C (p.Ala582=)
c.2082G>C (p.Ala694=)
c.2085G>C (p.Ala695=)
c.1809G>C (p.Ala603=)
c.1971G>C (p.Ala657=)
c.2067G>C (p.Ala689=)
n.486G>C
c.2028G>C (p.Ala676=)
c.1860G>C (p.Ala620=)
21g.25891794C>TCA9987051APPc.2139G>A (p.Ala713=)
c.1914G>A (p.Ala638=)
c.1746G>A (p.Ala582=)
c.2082G>A (p.Ala694=)
c.2085G>A (p.Ala695=)
c.1809G>A (p.Ala603=)
c.1971G>A (p.Ala657=)
c.2067G>A (p.Ala689=)
n.486G>A
c.2028G>A (p.Ala676=)
c.1860G>A (p.Ala620=)
dbSNP ExAC gnomAD
21g.25891795G>ACA225505APPc.2138C>T (p.Ala713Val)
c.1913C>T (p.Ala638Val)
c.1745C>T (p.Ala582Val)
c.2081C>T (p.Ala694Val)
c.2084C>T (p.Ala695Val)
c.1808C>T (p.Ala603Val)
c.1970C>T (p.Ala657Val)
c.2066C>T (p.Ala689Val)
n.485C>T
c.2027C>T (p.Ala676Val)
c.1859C>T (p.Ala620Val)
ClinVar dbSNP ExAC gnomAD COSMIC
21g.25891795G>CCA409805565APPc.2138C>G (p.Ala713Gly)
c.1913C>G (p.Ala638Gly)
c.1745C>G (p.Ala582Gly)
c.2081C>G (p.Ala694Gly)
c.2084C>G (p.Ala695Gly)
c.1808C>G (p.Ala603Gly)
c.1970C>G (p.Ala657Gly)
c.2066C>G (p.Ala689Gly)
n.485C>G
c.2027C>G (p.Ala676Gly)
c.1859C>G (p.Ala620Gly)
21g.25891795G=CA2383551621APPc.2138C= (p.Ala713=)
c.1913C= (p.Ala638=)
c.1745C= (p.Ala582=)
c.2081C= (p.Ala694=)
c.2084C= (p.Ala695=)
c.1808C= (p.Ala603=)
c.1970C= (p.Ala657=)
c.2066C= (p.Ala689=)
n.485C=
c.2027C= (p.Ala676=)
c.1859C= (p.Ala620=)
21g.25891795G>TCA409805566APPc.2138C>A (p.Ala713Glu)
c.1913C>A (p.Ala638Glu)
c.1745C>A (p.Ala582Glu)
c.2081C>A (p.Ala694Glu)
c.2084C>A (p.Ala695Glu)
c.1808C>A (p.Ala603Glu)
c.1970C>A (p.Ala657Glu)
c.2066C>A (p.Ala689Glu)
n.485C>A
c.2027C>A (p.Ala676Glu)
c.1859C>A (p.Ala620Glu)
COSMIC
21g.25891796C>ACA409805568APPc.2137G>T (p.Ala713Ser)
c.1912G>T (p.Ala638Ser)
c.1744G>T (p.Ala582Ser)
c.2080G>T (p.Ala694Ser)
c.2083G>T (p.Ala695Ser)
c.1807G>T (p.Ala603Ser)
c.1969G>T (p.Ala657Ser)
c.2065G>T (p.Ala689Ser)
n.484G>T
c.2026G>T (p.Ala676Ser)
c.1858G>T (p.Ala620Ser)
21g.25891796C=CA2383551622APPc.2137G= (p.Ala713=)
c.1912G= (p.Ala638=)
c.1744G= (p.Ala582=)
c.2080G= (p.Ala694=)
c.2083G= (p.Ala695=)
c.1807G= (p.Ala603=)
c.1969G= (p.Ala657=)
c.2065G= (p.Ala689=)
n.484G=
c.2026G= (p.Ala676=)
c.1858G= (p.Ala620=)
21g.25891796C>GCA409805567APPc.2137G>C (p.Ala713Pro)
c.1912G>C (p.Ala638Pro)
c.1744G>C (p.Ala582Pro)
c.2080G>C (p.Ala694Pro)
c.2083G>C (p.Ala695Pro)
c.1807G>C (p.Ala603Pro)
c.1969G>C (p.Ala657Pro)
c.2065G>C (p.Ala689Pro)
n.484G>C
c.2026G>C (p.Ala676Pro)
c.1858G>C (p.Ala620Pro)
21g.25891796C>TCA090906APPc.2137G>A (p.Ala713Thr)
c.1912G>A (p.Ala638Thr)
c.1744G>A (p.Ala582Thr)
c.2080G>A (p.Ala694Thr)
c.2083G>A (p.Ala695Thr)
c.1807G>A (p.Ala603Thr)
c.1969G>A (p.Ala657Thr)
c.2065G>A (p.Ala689Thr)
n.484G>A
c.2026G>A (p.Ala676Thr)
c.1858G>A (p.Ala620Thr)
ClinVar dbSNP ExAC gnomAD
21g.25891797T>ACA511686004APPc.2136A>T (p.Ile712=)
c.1911A>T (p.Ile637=)
c.1743A>T (p.Ile581=)
c.2079A>T (p.Ile693=)
c.2082A>T (p.Ile694=)
c.1806A>T (p.Ile602=)
c.1968A>T (p.Ile656=)
c.2064A>T (p.Ile688=)
n.483A>T
c.2025A>T (p.Ile675=)
c.1857A>T (p.Ile619=)
21g.25891797T>CCA409805569APPc.2136A>G (p.Ile712Met)
c.1911A>G (p.Ile637Met)
c.1743A>G (p.Ile581Met)
c.2079A>G (p.Ile693Met)
c.2082A>G (p.Ile694Met)
c.1806A>G (p.Ile602Met)
c.1968A>G (p.Ile656Met)
c.2064A>G (p.Ile688Met)
n.483A>G
c.2025A>G (p.Ile675Met)
c.1857A>G (p.Ile619Met)
21g.25891797T>GCA511686005APPc.2136A>C (p.Ile712=)
c.1911A>C (p.Ile637=)
c.1743A>C (p.Ile581=)
c.2079A>C (p.Ile693=)
c.2082A>C (p.Ile694=)
c.1806A>C (p.Ile602=)
c.1968A>C (p.Ile656=)
c.2064A>C (p.Ile688=)
n.483A>C
c.2025A>C (p.Ile675=)
c.1857A>C (p.Ile619=)
21g.25891798A>CCA409805570APPc.2135T>G (p.Ile712Arg)
c.1910T>G (p.Ile637Arg)
c.1742T>G (p.Ile581Arg)
c.2078T>G (p.Ile693Arg)
c.2081T>G (p.Ile694Arg)
c.1805T>G (p.Ile602Arg)
c.1967T>G (p.Ile656Arg)
c.2063T>G (p.Ile688Arg)
n.482T>G
c.2024T>G (p.Ile675Arg)
c.1856T>G (p.Ile619Arg)
21g.25891798A>GCA409805571APPc.2135T>C (p.Ile712Thr)
c.1910T>C (p.Ile637Thr)
c.1742T>C (p.Ile581Thr)
c.2078T>C (p.Ile693Thr)
c.2081T>C (p.Ile694Thr)
c.1805T>C (p.Ile602Thr)
c.1967T>C (p.Ile656Thr)
c.2063T>C (p.Ile688Thr)
n.482T>C
c.2024T>C (p.Ile675Thr)
c.1856T>C (p.Ile619Thr)
21g.25891798A>TCA409805572APPc.2135T>A (p.Ile712Lys)
c.1910T>A (p.Ile637Lys)
c.1742T>A (p.Ile581Lys)
c.2078T>A (p.Ile693Lys)
c.2081T>A (p.Ile694Lys)
c.1805T>A (p.Ile602Lys)
c.1967T>A (p.Ile656Lys)
c.2063T>A (p.Ile688Lys)
n.482T>A
c.2024T>A (p.Ile675Lys)
c.1856T>A (p.Ile619Lys)
21g.25891799T>ACA409805573APPc.2134A>T (p.Ile712Leu)
c.1909A>T (p.Ile637Leu)
c.1741A>T (p.Ile581Leu)
c.2077A>T (p.Ile693Leu)
c.2080A>T (p.Ile694Leu)
c.1804A>T (p.Ile602Leu)
c.1966A>T (p.Ile656Leu)
c.2062A>T (p.Ile688Leu)
n.481A>T
c.2023A>T (p.Ile675Leu)
c.1855A>T (p.Ile619Leu)
21g.25891799T>CCA409805574APPc.2134A>G (p.Ile712Val)
c.1909A>G (p.Ile637Val)
c.1741A>G (p.Ile581Val)
c.2077A>G (p.Ile693Val)
c.2080A>G (p.Ile694Val)
c.1804A>G (p.Ile602Val)
c.1966A>G (p.Ile656Val)
c.2062A>G (p.Ile688Val)
n.481A>G
c.2023A>G (p.Ile675Val)
c.1855A>G (p.Ile619Val)
gnomAD
21g.25891799T>GCA409805575APPc.2134A>C (p.Ile712Leu)
c.1909A>C (p.Ile637Leu)
c.1741A>C (p.Ile581Leu)
c.2077A>C (p.Ile693Leu)
c.2080A>C (p.Ile694Leu)
c.1804A>C (p.Ile602Leu)
c.1966A>C (p.Ile656Leu)
c.2062A>C (p.Ile688Leu)
n.481A>C
c.2023A>C (p.Ile675Leu)
c.1855A>C (p.Ile619Leu)
21g.25891799T=CA2383551623APPc.2134A= (p.Ile712=)
c.1909A= (p.Ile637=)
c.1741A= (p.Ile581=)
c.2077A= (p.Ile693=)
c.2080A= (p.Ile694=)
c.1804A= (p.Ile602=)
c.1966A= (p.Ile656=)
c.2062A= (p.Ile688=)
n.481A=
c.2023A= (p.Ile675=)
c.1855A= (p.Ile619=)
21g.25891800G>ACA511686006APPc.2133C>T (p.Val711=)
c.1908C>T (p.Val636=)
c.1740C>T (p.Val580=)
c.2076C>T (p.Val692=)
c.2079C>T (p.Val693=)
c.1803C>T (p.Val601=)
c.1965C>T (p.Val655=)
c.2061C>T (p.Val687=)
n.480C>T
c.2022C>T (p.Val674=)
c.1854C>T (p.Val618=)
21g.25891800G>CCA511686007APPc.2133C>G (p.Val711=)
c.1908C>G (p.Val636=)
c.1740C>G (p.Val580=)
c.2076C>G (p.Val692=)
c.2079C>G (p.Val693=)
c.1803C>G (p.Val601=)
c.1965C>G (p.Val655=)
c.2061C>G (p.Val687=)
n.480C>G
c.2022C>G (p.Val674=)
c.1854C>G (p.Val618=)
21g.25891800G=CA2383551624APPc.2133C= (p.Val711=)
c.1908C= (p.Val636=)
c.1740C= (p.Val580=)
c.2076C= (p.Val692=)
c.2079C= (p.Val693=)
c.1803C= (p.Val601=)
c.1965C= (p.Val655=)
c.2061C= (p.Val687=)
n.480C=
c.2022C= (p.Val674=)
c.1854C= (p.Val618=)
21g.25891800G>TCA9987052APPc.2133C>A (p.Val711=)
c.1908C>A (p.Val636=)
c.1740C>A (p.Val580=)
c.2076C>A (p.Val692=)
c.2079C>A (p.Val693=)
c.1803C>A (p.Val601=)
c.1965C>A (p.Val655=)
c.2061C>A (p.Val687=)
n.480C>A
c.2022C>A (p.Val674=)
c.1854C>A (p.Val618=)
ClinVar dbSNP ExAC gnomAD
21g.25891801A>CCA409805576APPc.2132T>G (p.Val711Gly)
c.1907T>G (p.Val636Gly)
c.1739T>G (p.Val580Gly)
c.2075T>G (p.Val692Gly)
c.2078T>G (p.Val693Gly)
c.1802T>G (p.Val601Gly)
c.1964T>G (p.Val655Gly)
c.2060T>G (p.Val687Gly)
n.479T>G
c.2021T>G (p.Val674Gly)
c.1853T>G (p.Val618Gly)
21g.25891801A>GCA409805577APPc.2132T>C (p.Val711Ala)
c.1907T>C (p.Val636Ala)
c.1739T>C (p.Val580Ala)
c.2075T>C (p.Val692Ala)
c.2078T>C (p.Val693Ala)
c.1802T>C (p.Val601Ala)
c.1964T>C (p.Val655Ala)
c.2060T>C (p.Val687Ala)
n.479T>C
c.2021T>C (p.Val674Ala)
c.1853T>C (p.Val618Ala)
21g.25891801A>TCA409805578APPc.2132T>A (p.Val711Asp)
c.1907T>A (p.Val636Asp)
c.1739T>A (p.Val580Asp)
c.2075T>A (p.Val692Asp)
c.2078T>A (p.Val693Asp)
c.1802T>A (p.Val601Asp)
c.1964T>A (p.Val655Asp)
c.2060T>A (p.Val687Asp)
n.479T>A
c.2021T>A (p.Val674Asp)
c.1853T>A (p.Val618Asp)
21g.25891802C>ACA409805580APPc.2131G>T (p.Val711Phe)
c.1906G>T (p.Val636Phe)
c.1738G>T (p.Val580Phe)
c.2074G>T (p.Val692Phe)
c.2077G>T (p.Val693Phe)
c.1801G>T (p.Val601Phe)
c.1963G>T (p.Val655Phe)
c.2059G>T (p.Val687Phe)
n.478G>T
c.2020G>T (p.Val674Phe)
c.1852G>T (p.Val618Phe)
21g.25891802C>GCA409805581APPc.2131G>C (p.Val711Leu)
c.1906G>C (p.Val636Leu)
c.1738G>C (p.Val580Leu)
c.2074G>C (p.Val692Leu)
c.2077G>C (p.Val693Leu)
c.1801G>C (p.Val601Leu)
c.1963G>C (p.Val655Leu)
c.2059G>C (p.Val687Leu)
n.478G>C
c.2020G>C (p.Val674Leu)
c.1852G>C (p.Val618Leu)

Number of alleles fetched