| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891784_25891786del | CA2817564437 | APP | n.2116_2118del n.546_548del n.815_817del c.2149_2151del (p.Val717del) c.1924_1926del (p.Val642del) c.1756_1758del (p.Val586del) c.2092_2094del (p.Val698del) c.2095_2097del (p.Val699del) c.1819_1821del (p.Val607del) c.1981_1983del (p.Val661del) c.2077_2079del (p.Val693del) n.496_498del c.2038_2040del (p.Val680del) c.1870_1872del (p.Val624del) | |
| 21 | g.25891784C>A | CA127792 | APP | n.2116G>T n.546G>T n.815G>T c.2149G>T (p.Val717Phe) c.1924G>T (p.Val642Phe) c.1756G>T (p.Val586Phe) c.2092G>T (p.Val698Phe) c.2095G>T (p.Val699Phe) c.1819G>T (p.Val607Phe) c.1981G>T (p.Val661Phe) c.2077G>T (p.Val693Phe) n.496G>T c.2038G>T (p.Val680Phe) c.1870G>T (p.Val624Phe) | ClinVar dbSNP |
| 21 | g.25891784C= | CA2383551611 | APP | n.2116G= n.546G= n.815G= c.2149G= (p.Val717=) c.1924G= (p.Val642=) c.1756G= (p.Val586=) c.2092G= (p.Val698=) c.2095G= (p.Val699=) c.1819G= (p.Val607=) c.1981G= (p.Val661=) c.2077G= (p.Val693=) n.496G= c.2038G= (p.Val680=) c.1870G= (p.Val624=) | |
| 21 | g.25891784C>G | CA127816 | APP | n.2116G>C n.546G>C n.815G>C c.2149G>C (p.Val717Leu) c.1924G>C (p.Val642Leu) c.1756G>C (p.Val586Leu) c.2092G>C (p.Val698Leu) c.2095G>C (p.Val699Leu) c.1819G>C (p.Val607Leu) c.1981G>C (p.Val661Leu) c.2077G>C (p.Val693Leu) n.496G>C c.2038G>C (p.Val680Leu) c.1870G>C (p.Val624Leu) | ClinVar dbSNP |
| 21 | g.25891784C>T | CA127791 | APP | n.2116G>A n.546G>A n.815G>A c.2149G>A (p.Val717Ile) c.1924G>A (p.Val642Ile) c.1756G>A (p.Val586Ile) c.2092G>A (p.Val698Ile) c.2095G>A (p.Val699Ile) c.1819G>A (p.Val607Ile) c.1981G>A (p.Val661Ile) c.2077G>A (p.Val693Ile) n.496G>A c.2038G>A (p.Val680Ile) c.1870G>A (p.Val624Ile) | ClinVar dbSNP gnomAD v4 |
| 21 | g.25891785G>A | CA9987050 | APP | n.2115C>T n.545C>T n.814C>T c.2148C>T (p.Ile716=) c.1923C>T (p.Ile641=) c.1755C>T (p.Ile585=) c.2091C>T (p.Ile697=) c.2094C>T (p.Ile698=) c.1818C>T (p.Ile606=) c.1980C>T (p.Ile660=) c.2076C>T (p.Ile692=) n.495C>T c.2037C>T (p.Ile679=) c.1869C>T (p.Ile623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.25891785G>C | CA409805552 | APP | n.2115C>G n.545C>G n.814C>G c.2148C>G (p.Ile716Met) c.1923C>G (p.Ile641Met) c.1755C>G (p.Ile585Met) c.2091C>G (p.Ile697Met) c.2094C>G (p.Ile698Met) c.1818C>G (p.Ile606Met) c.1980C>G (p.Ile660Met) c.2076C>G (p.Ile692Met) n.495C>G c.2037C>G (p.Ile679Met) c.1869C>G (p.Ile623Met) | ClinVar dbSNP gnomAD v4 |
| 21 | g.25891785G= | CA2383551612 | APP | n.2115C= n.545C= n.814C= c.2148C= (p.Ile716=) c.1923C= (p.Ile641=) c.1755C= (p.Ile585=) c.2091C= (p.Ile697=) c.2094C= (p.Ile698=) c.1818C= (p.Ile606=) c.1980C= (p.Ile660=) c.2076C= (p.Ile692=) n.495C= c.2037C= (p.Ile679=) c.1869C= (p.Ile623=) | |
| 21 | g.25891785G>T | CA9987049 | APP | n.2115C>A n.545C>A n.814C>A c.2148C>A (p.Ile716=) c.1923C>A (p.Ile641=) c.1755C>A (p.Ile585=) c.2091C>A (p.Ile697=) c.2094C>A (p.Ile698=) c.1818C>A (p.Ile606=) c.1980C>A (p.Ile660=) c.2076C>A (p.Ile692=) n.495C>A c.2037C>A (p.Ile679=) c.1869C>A (p.Ile623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891786A= | CA2383551613 | APP | n.2114T= n.544T= n.813T= c.2147T= (p.Ile716=) c.1922T= (p.Ile641=) c.1754T= (p.Ile585=) c.2090T= (p.Ile697=) c.2093T= (p.Ile698=) c.1817T= (p.Ile606=) c.1979T= (p.Ile660=) c.2075T= (p.Ile692=) n.494T= c.2036T= (p.Ile679=) c.1868T= (p.Ile623=) | |
| 21 | g.25891786A>C | CA409805553 | APP | n.2114T>G n.544T>G n.813T>G c.2147T>G (p.Ile716Ser) c.1922T>G (p.Ile641Ser) c.1754T>G (p.Ile585Ser) c.2090T>G (p.Ile697Ser) c.2093T>G (p.Ile698Ser) c.1817T>G (p.Ile606Ser) c.1979T>G (p.Ile660Ser) c.2075T>G (p.Ile692Ser) n.494T>G c.2036T>G (p.Ile679Ser) c.1868T>G (p.Ile623Ser) | |
| 21 | g.25891786A>G | CA225511 | APP | n.2114T>C n.544T>C n.813T>C c.2147T>C (p.Ile716Thr) c.1922T>C (p.Ile641Thr) c.1754T>C (p.Ile585Thr) c.2090T>C (p.Ile697Thr) c.2093T>C (p.Ile698Thr) c.1817T>C (p.Ile606Thr) c.1979T>C (p.Ile660Thr) c.2075T>C (p.Ile692Thr) n.494T>C c.2036T>C (p.Ile679Thr) c.1868T>C (p.Ile623Thr) | ClinVar dbSNP |
| 21 | g.25891786A>T | CA409805554 | APP | n.2114T>A n.544T>A n.813T>A c.2147T>A (p.Ile716Asn) c.1922T>A (p.Ile641Asn) c.1754T>A (p.Ile585Asn) c.2090T>A (p.Ile697Asn) c.2093T>A (p.Ile698Asn) c.1817T>A (p.Ile606Asn) c.1979T>A (p.Ile660Asn) c.2075T>A (p.Ile692Asn) n.494T>A c.2036T>A (p.Ile679Asn) c.1868T>A (p.Ile623Asn) | |
| 21 | g.25891787T>A | CA409805555 | APP | n.2113A>T n.543A>T n.812A>T c.2146A>T (p.Ile716Phe) c.1921A>T (p.Ile641Phe) c.1753A>T (p.Ile585Phe) c.2089A>T (p.Ile697Phe) c.2092A>T (p.Ile698Phe) c.1816A>T (p.Ile606Phe) c.1978A>T (p.Ile660Phe) c.2074A>T (p.Ile692Phe) n.493A>T c.2035A>T (p.Ile679Phe) c.1867A>T (p.Ile623Phe) | ClinVar dbSNP |
| 21 | g.25891787T>C | CA127799 | APP | n.2113A>G n.543A>G n.812A>G c.2146A>G (p.Ile716Val) c.1921A>G (p.Ile641Val) c.1753A>G (p.Ile585Val) c.2089A>G (p.Ile697Val) c.2092A>G (p.Ile698Val) c.1816A>G (p.Ile606Val) c.1978A>G (p.Ile660Val) c.2074A>G (p.Ile692Val) n.493A>G c.2035A>G (p.Ile679Val) c.1867A>G (p.Ile623Val) | ClinVar dbSNP |
| 21 | g.25891787T>G | CA409805556 | APP | n.2113A>C n.543A>C n.812A>C c.2146A>C (p.Ile716Leu) c.1921A>C (p.Ile641Leu) c.1753A>C (p.Ile585Leu) c.2089A>C (p.Ile697Leu) c.2092A>C (p.Ile698Leu) c.1816A>C (p.Ile606Leu) c.1978A>C (p.Ile660Leu) c.2074A>C (p.Ile692Leu) n.493A>C c.2035A>C (p.Ile679Leu) c.1867A>C (p.Ile623Leu) | |
| 21 | g.25891787T= | CA2383551614 | APP | n.2113A= n.543A= n.812A= c.2146A= (p.Ile716=) c.1921A= (p.Ile641=) c.1753A= (p.Ile585=) c.2089A= (p.Ile697=) c.2092A= (p.Ile698=) c.1816A= (p.Ile606=) c.1978A= (p.Ile660=) c.2074A= (p.Ile692=) n.493A= c.2035A= (p.Ile679=) c.1867A= (p.Ile623=) | |
| 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) |