| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891731A>C | CA511685961 | APP | c.2202T>G (p.Gly734=) c.1977T>G (p.Gly659=) c.1809T>G (p.Gly603=) c.2145T>G (p.Gly715=) c.2148T>G (p.Gly716=) c.1872T>G (p.Gly624=) c.2034T>G (p.Gly678=) c.2130T>G (p.Gly710=) n.549T>G c.2091T>G (p.Gly697=) c.1923T>G (p.Gly641=) | |
| 21 | g.25891731A>G | CA511685960 | APP | c.2202T>C (p.Gly734=) c.1977T>C (p.Gly659=) c.1809T>C (p.Gly603=) c.2145T>C (p.Gly715=) c.2148T>C (p.Gly716=) c.1872T>C (p.Gly624=) c.2034T>C (p.Gly678=) c.2130T>C (p.Gly710=) n.549T>C c.2091T>C (p.Gly697=) c.1923T>C (p.Gly641=) | |
| 21 | g.25891731A>T | CA511685959 | APP | c.2202T>A (p.Gly734=) c.1977T>A (p.Gly659=) c.1809T>A (p.Gly603=) c.2145T>A (p.Gly715=) c.2148T>A (p.Gly716=) c.1872T>A (p.Gly624=) c.2034T>A (p.Gly678=) c.2130T>A (p.Gly710=) n.549T>A c.2091T>A (p.Gly697=) c.1923T>A (p.Gly641=) | |
| 21 | g.25891732C>A | CA409805431 | APP | c.2201G>T (p.Gly734Val) c.1976G>T (p.Gly659Val) c.1808G>T (p.Gly603Val) c.2144G>T (p.Gly715Val) c.2147G>T (p.Gly716Val) c.1871G>T (p.Gly624Val) c.2033G>T (p.Gly678Val) c.2129G>T (p.Gly710Val) n.548G>T c.2090G>T (p.Gly697Val) c.1922G>T (p.Gly641Val) | |
| 21 | g.25891732C= | CA2383551596 | APP | c.2201G= (p.Gly734=) c.1976G= (p.Gly659=) c.1808G= (p.Gly603=) c.2144G= (p.Gly715=) c.2147G= (p.Gly716=) c.1871G= (p.Gly624=) c.2033G= (p.Gly678=) c.2129G= (p.Gly710=) n.548G= c.2090G= (p.Gly697=) c.1922G= (p.Gly641=) | |
| 21 | g.25891732C>G | CA409805433 | APP | c.2201G>C (p.Gly734Ala) c.1976G>C (p.Gly659Ala) c.1808G>C (p.Gly603Ala) c.2144G>C (p.Gly715Ala) c.2147G>C (p.Gly716Ala) c.1871G>C (p.Gly624Ala) c.2033G>C (p.Gly678Ala) c.2129G>C (p.Gly710Ala) n.548G>C c.2090G>C (p.Gly697Ala) c.1922G>C (p.Gly641Ala) | |
| 21 | g.25891732C>T | CA409805432 | APP | c.2201G>A (p.Gly734Asp) c.1976G>A (p.Gly659Asp) c.1808G>A (p.Gly603Asp) c.2144G>A (p.Gly715Asp) c.2147G>A (p.Gly716Asp) c.1871G>A (p.Gly624Asp) c.2033G>A (p.Gly678Asp) c.2129G>A (p.Gly710Asp) n.548G>A c.2090G>A (p.Gly697Asp) c.1922G>A (p.Gly641Asp) | |
| 21 | g.25891733C>A | CA409805434 | APP | c.2200G>T (p.Gly734Cys) c.1975G>T (p.Gly659Cys) c.1807G>T (p.Gly603Cys) c.2143G>T (p.Gly715Cys) c.2146G>T (p.Gly716Cys) c.1870G>T (p.Gly624Cys) c.2032G>T (p.Gly678Cys) c.2128G>T (p.Gly710Cys) n.547G>T c.2089G>T (p.Gly697Cys) c.1921G>T (p.Gly641Cys) | |
| 21 | g.25891733C>G | CA409805435 | APP | c.2200G>C (p.Gly734Arg) c.1975G>C (p.Gly659Arg) c.1807G>C (p.Gly603Arg) c.2143G>C (p.Gly715Arg) c.2146G>C (p.Gly716Arg) c.1870G>C (p.Gly624Arg) c.2032G>C (p.Gly678Arg) c.2128G>C (p.Gly710Arg) n.547G>C c.2089G>C (p.Gly697Arg) c.1921G>C (p.Gly641Arg) | |
| 21 | g.25891733C>T | CA409805436 | APP | c.2200G>A (p.Gly734Ser) c.1975G>A (p.Gly659Ser) c.1807G>A (p.Gly603Ser) c.2143G>A (p.Gly715Ser) c.2146G>A (p.Gly716Ser) c.1870G>A (p.Gly624Ser) c.2032G>A (p.Gly678Ser) c.2128G>A (p.Gly710Ser) n.547G>A c.2089G>A (p.Gly697Ser) c.1921G>A (p.Gly641Ser) | |
| 21 | g.25891733_25891734dup | CA2383551597 | APP | c.2199_2200dup (p.Gly734ValfsTer?) c.1974_1975dup (p.Gly659ValfsTer?) c.1806_1807dup (p.Gly603ValfsTer?) c.2142_2143dup (p.Gly715ValfsTer?) c.2145_2146dup (p.Gly716ValfsTer?) c.1869_1870dup (p.Gly624ValfsTer?) c.2031_2032dup (p.Gly678ValfsTer?) c.2127_2128dup (p.Gly710ValfsTer?) n.546_547dup c.2088_2089dup (p.Gly697ValfsTer?) c.1920_1921dup (p.Gly641ValfsTer?) | dbSNP |
| 21 | g.25891734A= | CA2383551598 | APP | c.2199T= (p.His733=) c.1974T= (p.His658=) c.1806T= (p.His602=) c.2142T= (p.His714=) c.2145T= (p.His715=) c.1869T= (p.His623=) c.2031T= (p.His677=) c.2127T= (p.His709=) n.546T= c.2088T= (p.His696=) c.1920T= (p.His640=) | |
| 21 | g.25891734A>C | CA409805437 | APP | c.2199T>G (p.His733Gln) c.1974T>G (p.His658Gln) c.1806T>G (p.His602Gln) c.2142T>G (p.His714Gln) c.2145T>G (p.His715Gln) c.1869T>G (p.His623Gln) c.2031T>G (p.His677Gln) c.2127T>G (p.His709Gln) n.546T>G c.2088T>G (p.His696Gln) c.1920T>G (p.His640Gln) | |
| 21 | g.25891734A>G | CA511685962 | APP | c.2199T>C (p.His733=) c.1974T>C (p.His658=) c.1806T>C (p.His602=) c.2142T>C (p.His714=) c.2145T>C (p.His715=) c.1869T>C (p.His623=) c.2031T>C (p.His677=) c.2127T>C (p.His709=) n.546T>C c.2088T>C (p.His696=) c.1920T>C (p.His640=) | |
| 21 | g.25891734A>T | CA409805438 | APP | c.2199T>A (p.His733Gln) c.1974T>A (p.His658Gln) c.1806T>A (p.His602Gln) c.2142T>A (p.His714Gln) c.2145T>A (p.His715Gln) c.1869T>A (p.His623Gln) c.2031T>A (p.His677Gln) c.2127T>A (p.His709Gln) n.546T>A c.2088T>A (p.His696Gln) c.1920T>A (p.His640Gln) | |
| 21 | g.25891735T>A | CA409805440 | APP | c.2198A>T (p.His733Leu) c.1973A>T (p.His658Leu) c.1805A>T (p.His602Leu) c.2141A>T (p.His714Leu) c.2144A>T (p.His715Leu) c.1868A>T (p.His623Leu) c.2030A>T (p.His677Leu) c.2126A>T (p.His709Leu) n.545A>T c.2087A>T (p.His696Leu) c.1919A>T (p.His640Leu) | |
| 21 | g.25891735T>C | CA409805441 | APP | c.2198A>G (p.His733Arg) c.1973A>G (p.His658Arg) c.1805A>G (p.His602Arg) c.2141A>G (p.His714Arg) c.2144A>G (p.His715Arg) c.1868A>G (p.His623Arg) c.2030A>G (p.His677Arg) c.2126A>G (p.His709Arg) n.545A>G c.2087A>G (p.His696Arg) c.1919A>G (p.His640Arg) | |
| 21 | g.25891735T>G | CA409805439 | APP | c.2198A>C (p.His733Pro) c.1973A>C (p.His658Pro) c.1805A>C (p.His602Pro) c.2141A>C (p.His714Pro) c.2144A>C (p.His715Pro) c.1868A>C (p.His623Pro) c.2030A>C (p.His677Pro) c.2126A>C (p.His709Pro) n.545A>C c.2087A>C (p.His696Pro) c.1919A>C (p.His640Pro) | |
| 21 | g.25891735T= | CA2383551599 | APP | c.2198A= (p.His733=) c.1973A= (p.His658=) c.1805A= (p.His602=) c.2141A= (p.His714=) c.2144A= (p.His715=) c.1868A= (p.His623=) c.2030A= (p.His677=) c.2126A= (p.His709=) n.545A= c.2087A= (p.His696=) c.1919A= (p.His640=) | |
| 21 | g.25891736G>A | CA409805443 | APP | c.2197C>T (p.His733Tyr) c.1972C>T (p.His658Tyr) c.1804C>T (p.His602Tyr) c.2140C>T (p.His714Tyr) c.2143C>T (p.His715Tyr) c.1867C>T (p.His623Tyr) c.2029C>T (p.His677Tyr) c.2125C>T (p.His709Tyr) n.544C>T c.2086C>T (p.His696Tyr) c.1918C>T (p.His640Tyr) | |
| 21 | g.25891736G>C | CA409805442 | APP | c.2197C>G (p.His733Asp) c.1972C>G (p.His658Asp) c.1804C>G (p.His602Asp) c.2140C>G (p.His714Asp) c.2143C>G (p.His715Asp) c.1867C>G (p.His623Asp) c.2029C>G (p.His677Asp) c.2125C>G (p.His709Asp) n.544C>G c.2086C>G (p.His696Asp) c.1918C>G (p.His640Asp) | |
| 21 | g.25891736G>T | CA409805444 | APP | c.2197C>A (p.His733Asn) c.1972C>A (p.His658Asn) c.1804C>A (p.His602Asn) c.2140C>A (p.His714Asn) c.2143C>A (p.His715Asn) c.1867C>A (p.His623Asn) c.2029C>A (p.His677Asn) c.2125C>A (p.His709Asn) n.544C>A c.2086C>A (p.His696Asn) c.1918C>A (p.His640Asn) | |
| 21 | g.25891737A= | CA2383551600 | APP | c.2196T= (p.His732=) c.1971T= (p.His657=) c.1803T= (p.His601=) c.2139T= (p.His713=) c.2142T= (p.His714=) c.1866T= (p.His622=) c.2028T= (p.His676=) c.2124T= (p.His708=) n.543T= c.2085T= (p.His695=) c.1917T= (p.His639=) | |
| 21 | g.25891737A>C | CA409805445 | APP | c.2196T>G (p.His732Gln) c.1971T>G (p.His657Gln) c.1803T>G (p.His601Gln) c.2139T>G (p.His713Gln) c.2142T>G (p.His714Gln) c.1866T>G (p.His622Gln) c.2028T>G (p.His676Gln) c.2124T>G (p.His708Gln) n.543T>G c.2085T>G (p.His695Gln) c.1917T>G (p.His639Gln) | |
| 21 | g.25891737A>G | CA511685965 | APP | c.2196T>C (p.His732=) c.1971T>C (p.His657=) c.1803T>C (p.His601=) c.2139T>C (p.His713=) c.2142T>C (p.His714=) c.1866T>C (p.His622=) c.2028T>C (p.His676=) c.2124T>C (p.His708=) n.543T>C c.2085T>C (p.His695=) c.1917T>C (p.His639=) | gnomAD |
| 21 | g.25891737A>T | CA409805446 | APP | c.2196T>A (p.His732Gln) c.1971T>A (p.His657Gln) c.1803T>A (p.His601Gln) c.2139T>A (p.His713Gln) c.2142T>A (p.His714Gln) c.1866T>A (p.His622Gln) c.2028T>A (p.His676Gln) c.2124T>A (p.His708Gln) n.543T>A c.2085T>A (p.His695Gln) c.1917T>A (p.His639Gln) | |
| 21 | g.25891738T>A | CA409805447 | APP | c.2195A>T (p.His732Leu) c.1970A>T (p.His657Leu) c.1802A>T (p.His601Leu) c.2138A>T (p.His713Leu) c.2141A>T (p.His714Leu) c.1865A>T (p.His622Leu) c.2027A>T (p.His676Leu) c.2123A>T (p.His708Leu) n.542A>T c.2084A>T (p.His695Leu) c.1916A>T (p.His639Leu) | |
| 21 | g.25891738T>C | CA409805448 | APP | c.2195A>G (p.His732Arg) c.1970A>G (p.His657Arg) c.1802A>G (p.His601Arg) c.2138A>G (p.His713Arg) c.2141A>G (p.His714Arg) c.1865A>G (p.His622Arg) c.2027A>G (p.His676Arg) c.2123A>G (p.His708Arg) n.542A>G c.2084A>G (p.His695Arg) c.1916A>G (p.His639Arg) | |
| 21 | g.25891738T>G | CA409805449 | APP | c.2195A>C (p.His732Pro) c.1970A>C (p.His657Pro) c.1802A>C (p.His601Pro) c.2138A>C (p.His713Pro) c.2141A>C (p.His714Pro) c.1865A>C (p.His622Pro) c.2027A>C (p.His676Pro) c.2123A>C (p.His708Pro) n.542A>C c.2084A>C (p.His695Pro) c.1916A>C (p.His639Pro) | |
| 21 | g.25891739G>A | CA409805450 | APP | c.2194C>T (p.His732Tyr) c.1969C>T (p.His657Tyr) c.1801C>T (p.His601Tyr) c.2137C>T (p.His713Tyr) c.2140C>T (p.His714Tyr) c.1864C>T (p.His622Tyr) c.2026C>T (p.His676Tyr) c.2122C>T (p.His708Tyr) n.541C>T c.2083C>T (p.His695Tyr) c.1915C>T (p.His639Tyr) | |
| 21 | g.25891739G>C | CA409805451 | APP | c.2194C>G (p.His732Asp) c.1969C>G (p.His657Asp) c.1801C>G (p.His601Asp) c.2137C>G (p.His713Asp) c.2140C>G (p.His714Asp) c.1864C>G (p.His622Asp) c.2026C>G (p.His676Asp) c.2122C>G (p.His708Asp) n.541C>G c.2083C>G (p.His695Asp) c.1915C>G (p.His639Asp) | |
| 21 | g.25891739G>T | CA409805452 | APP | c.2194C>A (p.His732Asn) c.1969C>A (p.His657Asn) c.1801C>A (p.His601Asn) c.2137C>A (p.His713Asn) c.2140C>A (p.His714Asn) c.1864C>A (p.His622Asn) c.2026C>A (p.His676Asn) c.2122C>A (p.His708Asn) n.541C>A c.2083C>A (p.His695Asn) c.1915C>A (p.His639Asn) | |
| 21 | g.25891740A>C | CA409805453 | APP | c.2193T>G (p.Ile731Met) c.1968T>G (p.Ile656Met) c.1800T>G (p.Ile600Met) c.2136T>G (p.Ile712Met) c.2139T>G (p.Ile713Met) c.1863T>G (p.Ile621Met) c.2025T>G (p.Ile675Met) c.2121T>G (p.Ile707Met) n.540T>G c.2082T>G (p.Ile694Met) c.1914T>G (p.Ile638Met) | |
| 21 | g.25891740A>G | CA511685966 | APP | c.2193T>C (p.Ile731=) c.1968T>C (p.Ile656=) c.1800T>C (p.Ile600=) c.2136T>C (p.Ile712=) c.2139T>C (p.Ile713=) c.1863T>C (p.Ile621=) c.2025T>C (p.Ile675=) c.2121T>C (p.Ile707=) n.540T>C c.2082T>C (p.Ile694=) c.1914T>C (p.Ile638=) | |
| 21 | g.25891740A>T | CA511685967 | APP | c.2193T>A (p.Ile731=) c.1968T>A (p.Ile656=) c.1800T>A (p.Ile600=) c.2136T>A (p.Ile712=) c.2139T>A (p.Ile713=) c.1863T>A (p.Ile621=) c.2025T>A (p.Ile675=) c.2121T>A (p.Ile707=) n.540T>A c.2082T>A (p.Ile694=) c.1914T>A (p.Ile638=) | |
| 21 | g.25891741A>C | CA409805456 | APP | c.2192T>G (p.Ile731Ser) c.1967T>G (p.Ile656Ser) c.1799T>G (p.Ile600Ser) c.2135T>G (p.Ile712Ser) c.2138T>G (p.Ile713Ser) c.1862T>G (p.Ile621Ser) c.2024T>G (p.Ile675Ser) c.2120T>G (p.Ile707Ser) n.539T>G c.2081T>G (p.Ile694Ser) c.1913T>G (p.Ile638Ser) | |
| 21 | g.25891741A>G | CA409805454 | APP | c.2192T>C (p.Ile731Thr) c.1967T>C (p.Ile656Thr) c.1799T>C (p.Ile600Thr) c.2135T>C (p.Ile712Thr) c.2138T>C (p.Ile713Thr) c.1862T>C (p.Ile621Thr) c.2024T>C (p.Ile675Thr) c.2120T>C (p.Ile707Thr) n.539T>C c.2081T>C (p.Ile694Thr) c.1913T>C (p.Ile638Thr) | |
| 21 | g.25891741A>T | CA409805455 | APP | c.2192T>A (p.Ile731Asn) c.1967T>A (p.Ile656Asn) c.1799T>A (p.Ile600Asn) c.2135T>A (p.Ile712Asn) c.2138T>A (p.Ile713Asn) c.1862T>A (p.Ile621Asn) c.2024T>A (p.Ile675Asn) c.2120T>A (p.Ile707Asn) n.539T>A c.2081T>A (p.Ile694Asn) c.1913T>A (p.Ile638Asn) | |
| 21 | g.25891742T>A | CA409805457 | APP | c.2191A>T (p.Ile731Phe) c.1966A>T (p.Ile656Phe) c.1798A>T (p.Ile600Phe) c.2134A>T (p.Ile712Phe) c.2137A>T (p.Ile713Phe) c.1861A>T (p.Ile621Phe) c.2023A>T (p.Ile675Phe) c.2119A>T (p.Ile707Phe) n.538A>T c.2080A>T (p.Ile694Phe) c.1912A>T (p.Ile638Phe) | |
| 21 | g.25891742T>C | CA409805458 | APP | c.2191A>G (p.Ile731Val) c.1966A>G (p.Ile656Val) c.1798A>G (p.Ile600Val) c.2134A>G (p.Ile712Val) c.2137A>G (p.Ile713Val) c.1861A>G (p.Ile621Val) c.2023A>G (p.Ile675Val) c.2119A>G (p.Ile707Val) n.538A>G c.2080A>G (p.Ile694Val) c.1912A>G (p.Ile638Val) | |
| 21 | g.25891742T>G | CA409805459 | APP | c.2191A>C (p.Ile731Leu) c.1966A>C (p.Ile656Leu) c.1798A>C (p.Ile600Leu) c.2134A>C (p.Ile712Leu) c.2137A>C (p.Ile713Leu) c.1861A>C (p.Ile621Leu) c.2023A>C (p.Ile675Leu) c.2119A>C (p.Ile707Leu) n.538A>C c.2080A>C (p.Ile694Leu) c.1912A>C (p.Ile638Leu) | |
| 21 | g.25891743G>A | CA9987048 | APP | c.2190C>T (p.Ser730=) c.1965C>T (p.Ser655=) c.1797C>T (p.Ser599=) c.2133C>T (p.Ser711=) c.2136C>T (p.Ser712=) c.1860C>T (p.Ser620=) c.2022C>T (p.Ser674=) c.2118C>T (p.Ser706=) n.537C>T c.2079C>T (p.Ser693=) c.1911C>T (p.Ser637=) | dbSNP ExAC gnomAD |
| 21 | g.25891743G>C | CA319097554 | APP | c.2190C>G (p.Ser730=) c.1965C>G (p.Ser655=) c.1797C>G (p.Ser599=) c.2133C>G (p.Ser711=) c.2136C>G (p.Ser712=) c.1860C>G (p.Ser620=) c.2022C>G (p.Ser674=) c.2118C>G (p.Ser706=) n.537C>G c.2079C>G (p.Ser693=) c.1911C>G (p.Ser637=) | dbSNP |
| 21 | g.25891743G= | CA2383551601 | APP | c.2190C= (p.Ser730=) c.1965C= (p.Ser655=) c.1797C= (p.Ser599=) c.2133C= (p.Ser711=) c.2136C= (p.Ser712=) c.1860C= (p.Ser620=) c.2022C= (p.Ser674=) c.2118C= (p.Ser706=) n.537C= c.2079C= (p.Ser693=) c.1911C= (p.Ser637=) | |
| 21 | g.25891743G>T | CA511685968 | APP | c.2190C>A (p.Ser730=) c.1965C>A (p.Ser655=) c.1797C>A (p.Ser599=) c.2133C>A (p.Ser711=) c.2136C>A (p.Ser712=) c.1860C>A (p.Ser620=) c.2022C>A (p.Ser674=) c.2118C>A (p.Ser706=) n.537C>A c.2079C>A (p.Ser693=) c.1911C>A (p.Ser637=) | |
| 21 | g.25891744G>A | CA409805460 | APP | c.2189C>T (p.Ser730Phe) c.1964C>T (p.Ser655Phe) c.1796C>T (p.Ser599Phe) c.2132C>T (p.Ser711Phe) c.2135C>T (p.Ser712Phe) c.1859C>T (p.Ser620Phe) c.2021C>T (p.Ser674Phe) c.2117C>T (p.Ser706Phe) n.536C>T c.2078C>T (p.Ser693Phe) c.1910C>T (p.Ser637Phe) | |
| 21 | g.25891744G>C | CA409805462 | APP | c.2189C>G (p.Ser730Cys) c.1964C>G (p.Ser655Cys) c.1796C>G (p.Ser599Cys) c.2132C>G (p.Ser711Cys) c.2135C>G (p.Ser712Cys) c.1859C>G (p.Ser620Cys) c.2021C>G (p.Ser674Cys) c.2117C>G (p.Ser706Cys) n.536C>G c.2078C>G (p.Ser693Cys) c.1910C>G (p.Ser637Cys) | |
| 21 | g.25891744G>T | CA409805461 | APP | c.2189C>A (p.Ser730Tyr) c.1964C>A (p.Ser655Tyr) c.1796C>A (p.Ser599Tyr) c.2132C>A (p.Ser711Tyr) c.2135C>A (p.Ser712Tyr) c.1859C>A (p.Ser620Tyr) c.2021C>A (p.Ser674Tyr) c.2117C>A (p.Ser706Tyr) n.536C>A c.2078C>A (p.Ser693Tyr) c.1910C>A (p.Ser637Tyr) | |
| 21 | g.25891745A>C | CA409805463 | APP | c.2188T>G (p.Ser730Ala) c.1963T>G (p.Ser655Ala) c.1795T>G (p.Ser599Ala) c.2131T>G (p.Ser711Ala) c.2134T>G (p.Ser712Ala) c.1858T>G (p.Ser620Ala) c.2020T>G (p.Ser674Ala) c.2116T>G (p.Ser706Ala) n.535T>G c.2077T>G (p.Ser693Ala) c.1909T>G (p.Ser637Ala) | |
| 21 | g.25891745A>G | CA409805464 | APP | c.2188T>C (p.Ser730Pro) c.1963T>C (p.Ser655Pro) c.1795T>C (p.Ser599Pro) c.2131T>C (p.Ser711Pro) c.2134T>C (p.Ser712Pro) c.1858T>C (p.Ser620Pro) c.2020T>C (p.Ser674Pro) c.2116T>C (p.Ser706Pro) n.535T>C c.2077T>C (p.Ser693Pro) c.1909T>C (p.Ser637Pro) |