| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891787_25891788delinsCA | CA2573157339 | APP | n.2112_2113delinsTG n.542_543delinsTG n.811_812delinsTG c.2145_2146delinsTG (p.Ile716Val) c.1920_1921delinsTG (p.Ile641Val) c.1752_1753delinsTG (p.Ile585Val) c.2088_2089delinsTG (p.Ile697Val) c.2091_2092delinsTG (p.Ile698Val) c.1815_1816delinsTG (p.Ile606Val) c.1977_1978delinsTG (p.Ile660Val) c.2073_2074delinsTG (p.Ile692Val) n.492_493delinsTG c.2034_2035delinsTG (p.Ile679Val) c.1866_1867delinsTG (p.Ile623Val) | ClinVar dbSNP |
| 21 | g.25891788C>A | CA511685997 | APP | n.2112G>T n.542G>T n.811G>T c.2145G>T (p.Val715=) c.1920G>T (p.Val640=) c.1752G>T (p.Val584=) c.2088G>T (p.Val696=) c.2091G>T (p.Val697=) c.1815G>T (p.Val605=) c.1977G>T (p.Val659=) c.2073G>T (p.Val691=) n.492G>T c.2034G>T (p.Val678=) c.1866G>T (p.Val622=) | |
| 21 | g.25891788C= | CA2383551615 | APP | n.2112G= n.542G= n.811G= c.2145G= (p.Val715=) c.1920G= (p.Val640=) c.1752G= (p.Val584=) c.2088G= (p.Val696=) c.2091G= (p.Val697=) c.1815G= (p.Val605=) c.1977G= (p.Val659=) c.2073G= (p.Val691=) n.492G= c.2034G= (p.Val678=) c.1866G= (p.Val622=) | |
| 21 | g.25891788C>G | CA511685996 | APP | n.2112G>C n.542G>C n.811G>C c.2145G>C (p.Val715=) c.1920G>C (p.Val640=) c.1752G>C (p.Val584=) c.2088G>C (p.Val696=) c.2091G>C (p.Val697=) c.1815G>C (p.Val605=) c.1977G>C (p.Val659=) c.2073G>C (p.Val691=) n.492G>C c.2034G>C (p.Val678=) c.1866G>C (p.Val622=) | |
| 21 | g.25891788C>T | CA225509 | APP | n.2112G>A n.542G>A n.811G>A c.2145G>A (p.Val715=) c.1920G>A (p.Val640=) c.1752G>A (p.Val584=) c.2088G>A (p.Val696=) c.2091G>A (p.Val697=) c.1815G>A (p.Val605=) c.1977G>A (p.Val659=) c.2073G>A (p.Val691=) n.492G>A c.2034G>A (p.Val678=) c.1866G>A (p.Val622=) | ClinVar dbSNP |
| 21 | g.25891789A= | CA2383551616 | APP | n.2111T= n.541T= n.810T= c.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=) | |
| 21 | g.25891789A>C | CA409805557 | APP | n.2111T>G n.541T>G n.810T>G c.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) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.25891789A>G | CA225507 | APP | n.2111T>C n.541T>C n.810T>C c.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 |
| 21 | g.25891789A>T | CA409805558 | APP | n.2111T>A n.541T>A n.810T>A c.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) | |
| 21 | g.25891790C>A | CA409805559 | APP | n.2110G>T n.540G>T n.809G>T c.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) | |
| 21 | g.25891790C= | CA2383551617 | APP | n.2110G= n.540G= n.809G= c.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=) | |
| 21 | g.25891790C>G | CA409805560 | APP | n.2110G>C n.540G>C n.809G>C c.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) | |
| 21 | g.25891790C>T | CA127800 | APP | n.2110G>A n.540G>A n.809G>A c.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 |
| 21 | g.25891791T>A | CA511685999 | APP | n.2109A>T n.539A>T n.808A>T c.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=) | |
| 21 | g.25891791T>C | CA511686001 | APP | n.2109A>G n.539A>G n.808A>G c.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=) | gnomAD v4 |
| 21 | g.25891791T>G | CA511686000 | APP | n.2109A>C n.539A>C n.808A>C c.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=) | |
| 21 | g.25891792G>A | CA127803 | APP | n.2108C>T n.538C>T n.807C>T c.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 |
| 21 | g.25891792G>C | CA409805561 | APP | n.2108C>G n.538C>G n.807C>G c.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) | |
| 21 | g.25891792G= | CA2383551618 | APP | n.2108C= n.538C= n.807C= c.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=) | |
| 21 | g.25891792G>T | CA409805562 | APP | n.2108C>A n.538C>A n.807C>A c.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) | |
| 21 | g.25891793T>A | CA409805563 | APP | n.2107A>T n.537A>T n.806A>T c.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) | |
| 21 | g.25891793T>C | CA127814 | APP | n.2107A>G n.537A>G n.806A>G c.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 |
| 21 | g.25891793T>G | CA409805564 | APP | n.2107A>C n.537A>C n.806A>C c.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) | |
| 21 | g.25891793T= | CA2383551619 | APP | n.2107A= n.537A= n.806A= c.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=) | |
| 21 | g.25891794C>A | CA511686003 | APP | n.2106G>T n.536G>T n.805G>T c.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=) | |
| 21 | g.25891794C= | CA2383551620 | APP | n.2106G= n.536G= n.805G= c.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=) | |
| 21 | g.25891794C>G | CA511686002 | APP | n.2106G>C n.536G>C n.805G>C c.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=) | |
| 21 | g.25891794C>T | CA9987051 | APP | n.2106G>A n.536G>A n.805G>A c.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=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.25891795G>A | CA225505 | APP | n.2105C>T n.535C>T n.804C>T c.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 v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.25891795G>C | CA409805565 | APP | n.2105C>G n.535C>G n.804C>G c.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) | |
| 21 | g.25891795G= | CA2383551621 | APP | n.2105C= n.535C= n.804C= c.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=) | |
| 21 | g.25891795G>T | CA409805566 | APP | n.2105C>A n.535C>A n.804C>A c.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 |
| 21 | g.25891796C>A | CA409805568 | APP | n.2104G>T n.534G>T n.803G>T c.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) | |
| 21 | g.25891796C= | CA2383551622 | APP | n.2104G= n.534G= n.803G= c.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=) | |
| 21 | g.25891796C>G | CA409805567 | APP | n.2104G>C n.534G>C n.803G>C c.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) | |
| 21 | g.25891796C>T | CA090906 | APP | n.2104G>A n.534G>A n.803G>A c.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 v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891797T>A | CA511686004 | APP | n.2103A>T n.533A>T n.802A>T c.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=) | |
| 21 | g.25891797T>C | CA409805569 | APP | n.2103A>G n.533A>G n.802A>G c.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) | |
| 21 | g.25891797T>G | CA511686005 | APP | n.2103A>C n.533A>C n.802A>C c.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=) | |
| 21 | g.25891798A>C | CA409805570 | APP | n.2102T>G n.532T>G n.801T>G c.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) | |
| 21 | g.25891798A>G | CA409805571 | APP | n.2102T>C n.532T>C n.801T>C c.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) | |
| 21 | g.25891798A>T | CA409805572 | APP | n.2102T>A n.532T>A n.801T>A c.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) | |
| 21 | g.25891799T>A | CA409805573 | APP | n.2101A>T n.531A>T n.800A>T c.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) | |
| 21 | g.25891799T>C | CA409805574 | APP | n.2101A>G n.531A>G n.800A>G c.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) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.25891799T>G | CA409805575 | APP | n.2101A>C n.531A>C n.800A>C c.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) | |
| 21 | g.25891799T= | CA2383551623 | APP | n.2101A= n.531A= n.800A= c.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=) | |
| 21 | g.25891800G>A | CA511686006 | APP | n.2100C>T n.530C>T n.799C>T c.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=) | |
| 21 | g.25891800G>C | CA511686007 | APP | n.2100C>G n.530C>G n.799C>G c.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=) | |
| 21 | g.25891800G= | CA2383551624 | APP | n.2100C= n.530C= n.799C= c.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=) | |
| 21 | g.25891800G>T | CA9987052 | APP | n.2100C>A n.530C>A n.799C>A c.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 v2 gnomAD v3 gnomAD v4 |