Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.25891777G>ACA409805537APPn.2123C>T
n.553C>T
n.822C>T
c.2156C>T (p.Thr719Ile)
c.1931C>T (p.Thr644Ile)
c.1763C>T (p.Thr588Ile)
c.2099C>T (p.Thr700Ile)
c.2102C>T (p.Thr701Ile)
c.1826C>T (p.Thr609Ile)
c.1988C>T (p.Thr663Ile)
c.2084C>T (p.Thr695Ile)
n.503C>T
c.2045C>T (p.Thr682Ile)
c.1877C>T (p.Thr626Ile)
dbSNP
21g.25891777G>CCA409805538APPn.2123C>G
n.553C>G
n.822C>G
c.2156C>G (p.Thr719Ser)
c.1931C>G (p.Thr644Ser)
c.1763C>G (p.Thr588Ser)
c.2099C>G (p.Thr700Ser)
c.2102C>G (p.Thr701Ser)
c.1826C>G (p.Thr609Ser)
c.1988C>G (p.Thr663Ser)
c.2084C>G (p.Thr695Ser)
n.503C>G
c.2045C>G (p.Thr682Ser)
c.1877C>G (p.Thr626Ser)
21g.25891777G=CA2383551607APPn.2123C=
n.553C=
n.822C=
c.2156C= (p.Thr719=)
c.1931C= (p.Thr644=)
c.1763C= (p.Thr588=)
c.2099C= (p.Thr700=)
c.2102C= (p.Thr701=)
c.1826C= (p.Thr609=)
c.1988C= (p.Thr663=)
c.2084C= (p.Thr695=)
n.503C=
c.2045C= (p.Thr682=)
c.1877C= (p.Thr626=)
21g.25891777G>TCA409805539APPn.2123C>A
n.553C>A
n.822C>A
c.2156C>A (p.Thr719Asn)
c.1931C>A (p.Thr644Asn)
c.1763C>A (p.Thr588Asn)
c.2099C>A (p.Thr700Asn)
c.2102C>A (p.Thr701Asn)
c.1826C>A (p.Thr609Asn)
c.1988C>A (p.Thr663Asn)
c.2084C>A (p.Thr695Asn)
n.503C>A
c.2045C>A (p.Thr682Asn)
c.1877C>A (p.Thr626Asn)
21g.25891778T>ACA409805540APPn.2122A>T
n.552A>T
n.821A>T
c.2155A>T (p.Thr719Ser)
c.1930A>T (p.Thr644Ser)
c.1762A>T (p.Thr588Ser)
c.2098A>T (p.Thr700Ser)
c.2101A>T (p.Thr701Ser)
c.1825A>T (p.Thr609Ser)
c.1987A>T (p.Thr663Ser)
c.2083A>T (p.Thr695Ser)
n.502A>T
c.2044A>T (p.Thr682Ser)
c.1876A>T (p.Thr626Ser)
21g.25891778T>CCA409805541APPn.2122A>G
n.552A>G
n.821A>G
c.2155A>G (p.Thr719Ala)
c.1930A>G (p.Thr644Ala)
c.1762A>G (p.Thr588Ala)
c.2098A>G (p.Thr700Ala)
c.2101A>G (p.Thr701Ala)
c.1825A>G (p.Thr609Ala)
c.1987A>G (p.Thr663Ala)
c.2083A>G (p.Thr695Ala)
n.502A>G
c.2044A>G (p.Thr682Ala)
c.1876A>G (p.Thr626Ala)
21g.25891778T>GCA409805542APPn.2122A>C
n.552A>C
n.821A>C
c.2155A>C (p.Thr719Pro)
c.1930A>C (p.Thr644Pro)
c.1762A>C (p.Thr588Pro)
c.2098A>C (p.Thr700Pro)
c.2101A>C (p.Thr701Pro)
c.1825A>C (p.Thr609Pro)
c.1987A>C (p.Thr663Pro)
c.2083A>C (p.Thr695Pro)
n.502A>C
c.2044A>C (p.Thr682Pro)
c.1876A>C (p.Thr626Pro)
ClinVar dbSNP
21g.25891779G>ACA511685992APPn.2121C>T
n.551C>T
n.820C>T
c.2154C>T (p.Ile718=)
c.1929C>T (p.Ile643=)
c.1761C>T (p.Ile587=)
c.2097C>T (p.Ile699=)
c.2100C>T (p.Ile700=)
c.1824C>T (p.Ile608=)
c.1986C>T (p.Ile662=)
c.2082C>T (p.Ile694=)
n.501C>T
c.2043C>T (p.Ile681=)
c.1875C>T (p.Ile625=)
21g.25891779G>CCA409805543APPn.2121C>G
n.551C>G
n.820C>G
c.2154C>G (p.Ile718Met)
c.1929C>G (p.Ile643Met)
c.1761C>G (p.Ile587Met)
c.2097C>G (p.Ile699Met)
c.2100C>G (p.Ile700Met)
c.1824C>G (p.Ile608Met)
c.1986C>G (p.Ile662Met)
c.2082C>G (p.Ile694Met)
n.501C>G
c.2043C>G (p.Ile681Met)
c.1875C>G (p.Ile625Met)
21g.25891779G>TCA511685991APPn.2121C>A
n.551C>A
n.820C>A
c.2154C>A (p.Ile718=)
c.1929C>A (p.Ile643=)
c.1761C>A (p.Ile587=)
c.2097C>A (p.Ile699=)
c.2100C>A (p.Ile700=)
c.1824C>A (p.Ile608=)
c.1986C>A (p.Ile662=)
c.2082C>A (p.Ile694=)
n.501C>A
c.2043C>A (p.Ile681=)
c.1875C>A (p.Ile625=)
21g.25891780A>CCA409805544APPn.2120T>G
n.550T>G
n.819T>G
c.2153T>G (p.Ile718Ser)
c.1928T>G (p.Ile643Ser)
c.1760T>G (p.Ile587Ser)
c.2096T>G (p.Ile699Ser)
c.2099T>G (p.Ile700Ser)
c.1823T>G (p.Ile608Ser)
c.1985T>G (p.Ile662Ser)
c.2081T>G (p.Ile694Ser)
n.500T>G
c.2042T>G (p.Ile681Ser)
c.1874T>G (p.Ile625Ser)
21g.25891780A>GCA409805545APPn.2120T>C
n.550T>C
n.819T>C
c.2153T>C (p.Ile718Thr)
c.1928T>C (p.Ile643Thr)
c.1760T>C (p.Ile587Thr)
c.2096T>C (p.Ile699Thr)
c.2099T>C (p.Ile700Thr)
c.1823T>C (p.Ile608Thr)
c.1985T>C (p.Ile662Thr)
c.2081T>C (p.Ile694Thr)
n.500T>C
c.2042T>C (p.Ile681Thr)
c.1874T>C (p.Ile625Thr)
21g.25891780A>TCA409805546APPn.2120T>A
n.550T>A
n.819T>A
c.2153T>A (p.Ile718Asn)
c.1928T>A (p.Ile643Asn)
c.1760T>A (p.Ile587Asn)
c.2096T>A (p.Ile699Asn)
c.2099T>A (p.Ile700Asn)
c.1823T>A (p.Ile608Asn)
c.1985T>A (p.Ile662Asn)
c.2081T>A (p.Ile694Asn)
n.500T>A
c.2042T>A (p.Ile681Asn)
c.1874T>A (p.Ile625Asn)
21g.25891781T>ACA409805548APPn.2119A>T
n.549A>T
n.818A>T
c.2152A>T (p.Ile718Phe)
c.1927A>T (p.Ile643Phe)
c.1759A>T (p.Ile587Phe)
c.2095A>T (p.Ile699Phe)
c.2098A>T (p.Ile700Phe)
c.1822A>T (p.Ile608Phe)
c.1984A>T (p.Ile662Phe)
c.2080A>T (p.Ile694Phe)
n.499A>T
c.2041A>T (p.Ile681Phe)
c.1873A>T (p.Ile625Phe)
dbSNP gnomAD v2 gnomAD v4
21g.25891781T>CCA409805549APPn.2119A>G
n.549A>G
n.818A>G
c.2152A>G (p.Ile718Val)
c.1927A>G (p.Ile643Val)
c.1759A>G (p.Ile587Val)
c.2095A>G (p.Ile699Val)
c.2098A>G (p.Ile700Val)
c.1822A>G (p.Ile608Val)
c.1984A>G (p.Ile662Val)
c.2080A>G (p.Ile694Val)
n.499A>G
c.2041A>G (p.Ile681Val)
c.1873A>G (p.Ile625Val)
dbSNP gnomAD v4
21g.25891781T>GCA409805547APPn.2119A>C
n.549A>C
n.818A>C
c.2152A>C (p.Ile718Leu)
c.1927A>C (p.Ile643Leu)
c.1759A>C (p.Ile587Leu)
c.2095A>C (p.Ile699Leu)
c.2098A>C (p.Ile700Leu)
c.1822A>C (p.Ile608Leu)
c.1984A>C (p.Ile662Leu)
c.2080A>C (p.Ile694Leu)
n.499A>C
c.2041A>C (p.Ile681Leu)
c.1873A>C (p.Ile625Leu)
21g.25891781T=CA2383551608APPn.2119A=
n.549A=
n.818A=
c.2152A= (p.Ile718=)
c.1927A= (p.Ile643=)
c.1759A= (p.Ile587=)
c.2095A= (p.Ile699=)
c.2098A= (p.Ile700=)
c.1822A= (p.Ile608=)
c.1984A= (p.Ile662=)
c.2080A= (p.Ile694=)
n.499A=
c.2041A= (p.Ile681=)
c.1873A= (p.Ile625=)
21g.25891782G>ACA511685995APPn.2118C>T
n.548C>T
n.817C>T
c.2151C>T (p.Val717=)
c.1926C>T (p.Val642=)
c.1758C>T (p.Val586=)
c.2094C>T (p.Val698=)
c.2097C>T (p.Val699=)
c.1821C>T (p.Val607=)
c.1983C>T (p.Val661=)
c.2079C>T (p.Val693=)
n.498C>T
c.2040C>T (p.Val680=)
c.1872C>T (p.Val624=)
21g.25891782G>CCA511685993APPn.2118C>G
n.548C>G
n.817C>G
c.2151C>G (p.Val717=)
c.1926C>G (p.Val642=)
c.1758C>G (p.Val586=)
c.2094C>G (p.Val698=)
c.2097C>G (p.Val699=)
c.1821C>G (p.Val607=)
c.1983C>G (p.Val661=)
c.2079C>G (p.Val693=)
n.498C>G
c.2040C>G (p.Val680=)
c.1872C>G (p.Val624=)
21g.25891782G=CA2383551609APPn.2118C=
n.548C=
n.817C=
c.2151C= (p.Val717=)
c.1926C= (p.Val642=)
c.1758C= (p.Val586=)
c.2094C= (p.Val698=)
c.2097C= (p.Val699=)
c.1821C= (p.Val607=)
c.1983C= (p.Val661=)
c.2079C= (p.Val693=)
n.498C=
c.2040C= (p.Val680=)
c.1872C= (p.Val624=)
21g.25891782G>TCA511685994APPn.2118C>A
n.548C>A
n.817C>A
c.2151C>A (p.Val717=)
c.1926C>A (p.Val642=)
c.1758C>A (p.Val586=)
c.2094C>A (p.Val698=)
c.2097C>A (p.Val699=)
c.1821C>A (p.Val607=)
c.1983C>A (p.Val661=)
c.2079C>A (p.Val693=)
n.498C>A
c.2040C>A (p.Val680=)
c.1872C>A (p.Val624=)
dbSNP gnomAD v4
21g.25891783A=CA2383551610APPn.2117T=
n.547T=
n.816T=
c.2150T= (p.Val717=)
c.1925T= (p.Val642=)
c.1757T= (p.Val586=)
c.2093T= (p.Val698=)
c.2096T= (p.Val699=)
c.1820T= (p.Val607=)
c.1982T= (p.Val661=)
c.2078T= (p.Val693=)
n.497T=
c.2039T= (p.Val680=)
c.1871T= (p.Val624=)
21g.25891783A>CCA127793APPn.2117T>G
n.547T>G
n.816T>G
c.2150T>G (p.Val717Gly)
c.1925T>G (p.Val642Gly)
c.1757T>G (p.Val586Gly)
c.2093T>G (p.Val698Gly)
c.2096T>G (p.Val699Gly)
c.1820T>G (p.Val607Gly)
c.1982T>G (p.Val661Gly)
c.2078T>G (p.Val693Gly)
n.497T>G
c.2039T>G (p.Val680Gly)
c.1871T>G (p.Val624Gly)
ClinVar dbSNP
21g.25891783A>GCA409805550APPn.2117T>C
n.547T>C
n.816T>C
c.2150T>C (p.Val717Ala)
c.1925T>C (p.Val642Ala)
c.1757T>C (p.Val586Ala)
c.2093T>C (p.Val698Ala)
c.2096T>C (p.Val699Ala)
c.1820T>C (p.Val607Ala)
c.1982T>C (p.Val661Ala)
c.2078T>C (p.Val693Ala)
n.497T>C
c.2039T>C (p.Val680Ala)
c.1871T>C (p.Val624Ala)
21g.25891783A>TCA409805551APPn.2117T>A
n.547T>A
n.816T>A
c.2150T>A (p.Val717Asp)
c.1925T>A (p.Val642Asp)
c.1757T>A (p.Val586Asp)
c.2093T>A (p.Val698Asp)
c.2096T>A (p.Val699Asp)
c.1820T>A (p.Val607Asp)
c.1982T>A (p.Val661Asp)
c.2078T>A (p.Val693Asp)
n.497T>A
c.2039T>A (p.Val680Asp)
c.1871T>A (p.Val624Asp)
21g.25891784C>ACA127792APPn.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
21g.25891784C=CA2383551611APPn.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=)
21g.25891784C>GCA127816APPn.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
21g.25891784C>TCA127791APPn.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
21g.25891785G>ACA9987050APPn.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
21g.25891785G>CCA409805552APPn.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
21g.25891785G=CA2383551612APPn.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=)
21g.25891785G>TCA9987049APPn.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
21g.25891786A=CA2383551613APPn.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=)
21g.25891786A>CCA409805553APPn.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)
21g.25891786A>GCA225511APPn.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
21g.25891786A>TCA409805554APPn.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)
21g.25891787T>ACA409805555APPn.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
21g.25891787T>CCA127799APPn.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
21g.25891787T>GCA409805556APPn.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)
21g.25891787T=CA2383551614APPn.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=)
21g.25891787_25891788delinsCACA2573157339APPn.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
21g.25891788C>ACA511685997APPn.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=)
21g.25891788C=CA2383551615APPn.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=)
21g.25891788C>GCA511685996APPn.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=)
21g.25891788C>TCA225509APPn.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
21g.25891789A=CA2383551616APPn.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=)
21g.25891789A>CCA409805557APPn.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
21g.25891789A>GCA225507APPn.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
21g.25891789A>TCA409805558APPn.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)

Number of alleles fetched