Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.25891733_25891734dupCA2383551597APPc.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
21g.25891734A=CA2383551598APPc.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=)
21g.25891734A>CCA409805437APPc.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)
21g.25891734A>GCA511685962APPc.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=)
21g.25891734A>TCA409805438APPc.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)
21g.25891735T>ACA409805440APPc.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)
21g.25891735T>CCA409805441APPc.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)
21g.25891735T>GCA409805439APPc.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)
21g.25891735T=CA2383551599APPc.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=)
21g.25891736G>ACA409805443APPc.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)
21g.25891736G>CCA409805442APPc.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)
21g.25891736G>TCA409805444APPc.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)
21g.25891737A=CA2383551600APPc.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=)
21g.25891737A>CCA409805445APPc.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)
21g.25891737A>GCA511685965APPc.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
21g.25891737A>TCA409805446APPc.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)
21g.25891738T>ACA409805447APPc.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)
21g.25891738T>CCA409805448APPc.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)
21g.25891738T>GCA409805449APPc.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)
21g.25891739G>ACA409805450APPc.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)
21g.25891739G>CCA409805451APPc.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)
21g.25891739G>TCA409805452APPc.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)
21g.25891740A>CCA409805453APPc.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)
21g.25891740A>GCA511685966APPc.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=)
21g.25891740A>TCA511685967APPc.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=)
21g.25891741A>CCA409805456APPc.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)
21g.25891741A>GCA409805454APPc.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)
21g.25891741A>TCA409805455APPc.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)
21g.25891742T>ACA409805457APPc.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)
21g.25891742T>CCA409805458APPc.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)
21g.25891742T>GCA409805459APPc.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)
21g.25891743G>ACA9987048APPc.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
21g.25891743G>CCA319097554APPc.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
21g.25891743G=CA2383551601APPc.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=)
21g.25891743G>TCA511685968APPc.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=)
21g.25891744G>ACA409805460APPc.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)
21g.25891744G>CCA409805462APPc.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)
21g.25891744G>TCA409805461APPc.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)
21g.25891745A>CCA409805463APPc.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)
21g.25891745A>GCA409805464APPc.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)
21g.25891745A>TCA409805465APPc.2188T>A (p.Ser730Thr)
c.1963T>A (p.Ser655Thr)
c.1795T>A (p.Ser599Thr)
c.2131T>A (p.Ser711Thr)
c.2134T>A (p.Ser712Thr)
c.1858T>A (p.Ser620Thr)
c.2020T>A (p.Ser674Thr)
c.2116T>A (p.Ser706Thr)
n.535T>A
c.2077T>A (p.Ser693Thr)
c.1909T>A (p.Ser637Thr)
21g.25891746T>ACA511685971APPc.2187A>T (p.Thr729=)
c.1962A>T (p.Thr654=)
c.1794A>T (p.Thr598=)
c.2130A>T (p.Thr710=)
c.2133A>T (p.Thr711=)
c.1857A>T (p.Thr619=)
c.2019A>T (p.Thr673=)
c.2115A>T (p.Thr705=)
n.534A>T
c.2076A>T (p.Thr692=)
c.1908A>T (p.Thr636=)
21g.25891746T>CCA511685969APPc.2187A>G (p.Thr729=)
c.1962A>G (p.Thr654=)
c.1794A>G (p.Thr598=)
c.2130A>G (p.Thr710=)
c.2133A>G (p.Thr711=)
c.1857A>G (p.Thr619=)
c.2019A>G (p.Thr673=)
c.2115A>G (p.Thr705=)
n.534A>G
c.2076A>G (p.Thr692=)
c.1908A>G (p.Thr636=)
21g.25891746T>GCA511685970APPc.2187A>C (p.Thr729=)
c.1962A>C (p.Thr654=)
c.1794A>C (p.Thr598=)
c.2130A>C (p.Thr710=)
c.2133A>C (p.Thr711=)
c.1857A>C (p.Thr619=)
c.2019A>C (p.Thr673=)
c.2115A>C (p.Thr705=)
n.534A>C
c.2076A>C (p.Thr692=)
c.1908A>C (p.Thr636=)
21g.25891746T=CA2383551602APPc.2187A= (p.Thr729=)
c.1962A= (p.Thr654=)
c.1794A= (p.Thr598=)
c.2130A= (p.Thr710=)
c.2133A= (p.Thr711=)
c.1857A= (p.Thr619=)
c.2019A= (p.Thr673=)
c.2115A= (p.Thr705=)
n.534A=
c.2076A= (p.Thr692=)
c.1908A= (p.Thr636=)
21g.25891747G>ACA409805466APPc.2186C>T (p.Thr729Ile)
c.1961C>T (p.Thr654Ile)
c.1793C>T (p.Thr598Ile)
c.2129C>T (p.Thr710Ile)
c.2132C>T (p.Thr711Ile)
c.1856C>T (p.Thr619Ile)
c.2018C>T (p.Thr673Ile)
c.2114C>T (p.Thr705Ile)
n.533C>T
c.2075C>T (p.Thr692Ile)
c.1907C>T (p.Thr636Ile)
21g.25891747G>CCA409805467APPc.2186C>G (p.Thr729Arg)
c.1961C>G (p.Thr654Arg)
c.1793C>G (p.Thr598Arg)
c.2129C>G (p.Thr710Arg)
c.2132C>G (p.Thr711Arg)
c.1856C>G (p.Thr619Arg)
c.2018C>G (p.Thr673Arg)
c.2114C>G (p.Thr705Arg)
n.533C>G
c.2075C>G (p.Thr692Arg)
c.1907C>G (p.Thr636Arg)
21g.25891747G>TCA409805468APPc.2186C>A (p.Thr729Lys)
c.1961C>A (p.Thr654Lys)
c.1793C>A (p.Thr598Lys)
c.2129C>A (p.Thr710Lys)
c.2132C>A (p.Thr711Lys)
c.1856C>A (p.Thr619Lys)
c.2018C>A (p.Thr673Lys)
c.2114C>A (p.Thr705Lys)
n.533C>A
c.2075C>A (p.Thr692Lys)
c.1907C>A (p.Thr636Lys)
21g.25891748T>ACA409805469APPc.2185A>T (p.Thr729Ser)
c.1960A>T (p.Thr654Ser)
c.1792A>T (p.Thr598Ser)
c.2128A>T (p.Thr710Ser)
c.2131A>T (p.Thr711Ser)
c.1855A>T (p.Thr619Ser)
c.2017A>T (p.Thr673Ser)
c.2113A>T (p.Thr705Ser)
n.532A>T
c.2074A>T (p.Thr692Ser)
c.1906A>T (p.Thr636Ser)
21g.25891748T>CCA409805470APPc.2185A>G (p.Thr729Ala)
c.1960A>G (p.Thr654Ala)
c.1792A>G (p.Thr598Ala)
c.2128A>G (p.Thr710Ala)
c.2131A>G (p.Thr711Ala)
c.1855A>G (p.Thr619Ala)
c.2017A>G (p.Thr673Ala)
c.2113A>G (p.Thr705Ala)
n.532A>G
c.2074A>G (p.Thr692Ala)
c.1906A>G (p.Thr636Ala)
COSMIC

Number of alleles fetched