| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891770C>A | CA511685983 | APP | c.2163G>T (p.Val721=) c.1938G>T (p.Val646=) c.1770G>T (p.Val590=) c.2106G>T (p.Val702=) c.2109G>T (p.Val703=) c.1833G>T (p.Val611=) c.1995G>T (p.Val665=) c.2091G>T (p.Val697=) n.510G>T c.2052G>T (p.Val684=) c.1884G>T (p.Val628=) | |
| 21 | g.25891770C>G | CA511685982 | APP | c.2163G>C (p.Val721=) c.1938G>C (p.Val646=) c.1770G>C (p.Val590=) c.2106G>C (p.Val702=) c.2109G>C (p.Val703=) c.1833G>C (p.Val611=) c.1995G>C (p.Val665=) c.2091G>C (p.Val697=) n.510G>C c.2052G>C (p.Val684=) c.1884G>C (p.Val628=) | |
| 21 | g.25891770C>T | CA511685984 | APP | c.2163G>A (p.Val721=) c.1938G>A (p.Val646=) c.1770G>A (p.Val590=) c.2106G>A (p.Val702=) c.2109G>A (p.Val703=) c.1833G>A (p.Val611=) c.1995G>A (p.Val665=) c.2091G>A (p.Val697=) n.510G>A c.2052G>A (p.Val684=) c.1884G>A (p.Val628=) | |
| 21 | g.25891771A>C | CA409805524 | APP | c.2162T>G (p.Val721Gly) c.1937T>G (p.Val646Gly) c.1769T>G (p.Val590Gly) c.2105T>G (p.Val702Gly) c.2108T>G (p.Val703Gly) c.1832T>G (p.Val611Gly) c.1994T>G (p.Val665Gly) c.2090T>G (p.Val697Gly) n.509T>G c.2051T>G (p.Val684Gly) c.1883T>G (p.Val628Gly) | |
| 21 | g.25891771A>G | CA409805525 | APP | c.2162T>C (p.Val721Ala) c.1937T>C (p.Val646Ala) c.1769T>C (p.Val590Ala) c.2105T>C (p.Val702Ala) c.2108T>C (p.Val703Ala) c.1832T>C (p.Val611Ala) c.1994T>C (p.Val665Ala) c.2090T>C (p.Val697Ala) n.509T>C c.2051T>C (p.Val684Ala) c.1883T>C (p.Val628Ala) | |
| 21 | g.25891771A>T | CA409805526 | APP | c.2162T>A (p.Val721Glu) c.1937T>A (p.Val646Glu) c.1769T>A (p.Val590Glu) c.2105T>A (p.Val702Glu) c.2108T>A (p.Val703Glu) c.1832T>A (p.Val611Glu) c.1994T>A (p.Val665Glu) c.2090T>A (p.Val697Glu) n.509T>A c.2051T>A (p.Val684Glu) c.1883T>A (p.Val628Glu) | |
| 21 | g.25891772C>A | CA409805527 | APP | c.2161G>T (p.Val721Leu) c.1936G>T (p.Val646Leu) c.1768G>T (p.Val590Leu) c.2104G>T (p.Val702Leu) c.2107G>T (p.Val703Leu) c.1831G>T (p.Val611Leu) c.1993G>T (p.Val665Leu) c.2089G>T (p.Val697Leu) n.508G>T c.2050G>T (p.Val684Leu) c.1882G>T (p.Val628Leu) | |
| 21 | g.25891772C= | CA2383551606 | APP | c.2161G= (p.Val721=) c.1936G= (p.Val646=) c.1768G= (p.Val590=) c.2104G= (p.Val702=) c.2107G= (p.Val703=) c.1831G= (p.Val611=) c.1993G= (p.Val665=) c.2089G= (p.Val697=) n.508G= c.2050G= (p.Val684=) c.1882G= (p.Val628=) | |
| 21 | g.25891772C>G | CA409805528 | APP | c.2161G>C (p.Val721Leu) c.1936G>C (p.Val646Leu) c.1768G>C (p.Val590Leu) c.2104G>C (p.Val702Leu) c.2107G>C (p.Val703Leu) c.1831G>C (p.Val611Leu) c.1993G>C (p.Val665Leu) c.2089G>C (p.Val697Leu) n.508G>C c.2050G>C (p.Val684Leu) c.1882G>C (p.Val628Leu) | |
| 21 | g.25891772C>T | CA409805529 | APP | c.2161G>A (p.Val721Met) c.1936G>A (p.Val646Met) c.1768G>A (p.Val590Met) c.2104G>A (p.Val702Met) c.2107G>A (p.Val703Met) c.1831G>A (p.Val611Met) c.1993G>A (p.Val665Met) c.2089G>A (p.Val697Met) n.508G>A c.2050G>A (p.Val684Met) c.1882G>A (p.Val628Met) | gnomAD |
| 21 | g.25891773C>A | CA409805530 | APP | c.2160G>T (p.Leu720Phe) c.1935G>T (p.Leu645Phe) c.1767G>T (p.Leu589Phe) c.2103G>T (p.Leu701Phe) c.2106G>T (p.Leu702Phe) c.1830G>T (p.Leu610Phe) c.1992G>T (p.Leu664Phe) c.2088G>T (p.Leu696Phe) n.507G>T c.2049G>T (p.Leu683Phe) c.1881G>T (p.Leu627Phe) | |
| 21 | g.25891773C>G | CA409805531 | APP | c.2160G>C (p.Leu720Phe) c.1935G>C (p.Leu645Phe) c.1767G>C (p.Leu589Phe) c.2103G>C (p.Leu701Phe) c.2106G>C (p.Leu702Phe) c.1830G>C (p.Leu610Phe) c.1992G>C (p.Leu664Phe) c.2088G>C (p.Leu696Phe) n.507G>C c.2049G>C (p.Leu683Phe) c.1881G>C (p.Leu627Phe) | |
| 21 | g.25891773C>T | CA511685985 | APP | c.2160G>A (p.Leu720=) c.1935G>A (p.Leu645=) c.1767G>A (p.Leu589=) c.2103G>A (p.Leu701=) c.2106G>A (p.Leu702=) c.1830G>A (p.Leu610=) c.1992G>A (p.Leu664=) c.2088G>A (p.Leu696=) n.507G>A c.2049G>A (p.Leu683=) c.1881G>A (p.Leu627=) | |
| 21 | g.25891774A>C | CA409805533 | APP | c.2159T>G (p.Leu720Trp) c.1934T>G (p.Leu645Trp) c.1766T>G (p.Leu589Trp) c.2102T>G (p.Leu701Trp) c.2105T>G (p.Leu702Trp) c.1829T>G (p.Leu610Trp) c.1991T>G (p.Leu664Trp) c.2087T>G (p.Leu696Trp) n.506T>G c.2048T>G (p.Leu683Trp) c.1880T>G (p.Leu627Trp) | |
| 21 | g.25891774A>G | CA409805534 | APP | c.2159T>C (p.Leu720Ser) c.1934T>C (p.Leu645Ser) c.1766T>C (p.Leu589Ser) c.2102T>C (p.Leu701Ser) c.2105T>C (p.Leu702Ser) c.1829T>C (p.Leu610Ser) c.1991T>C (p.Leu664Ser) c.2087T>C (p.Leu696Ser) n.506T>C c.2048T>C (p.Leu683Ser) c.1880T>C (p.Leu627Ser) | |
| 21 | g.25891774A>T | CA409805532 | APP | c.2159T>A (p.Leu720Ter) c.1934T>A (p.Leu645Ter) c.1766T>A (p.Leu589Ter) c.2102T>A (p.Leu701Ter) c.2105T>A (p.Leu702Ter) c.1829T>A (p.Leu610Ter) c.1991T>A (p.Leu664Ter) c.2087T>A (p.Leu696Ter) n.506T>A c.2048T>A (p.Leu683Ter) c.1880T>A (p.Leu627Ter) | |
| 21 | g.25891775A>C | CA409805535 | APP | c.2158T>G (p.Leu720Val) c.1933T>G (p.Leu645Val) c.1765T>G (p.Leu589Val) c.2101T>G (p.Leu701Val) c.2104T>G (p.Leu702Val) c.1828T>G (p.Leu610Val) c.1990T>G (p.Leu664Val) c.2086T>G (p.Leu696Val) n.505T>G c.2047T>G (p.Leu683Val) c.1879T>G (p.Leu627Val) | |
| 21 | g.25891775A>G | CA511685986 | APP | c.2158T>C (p.Leu720=) c.1933T>C (p.Leu645=) c.1765T>C (p.Leu589=) c.2101T>C (p.Leu701=) c.2104T>C (p.Leu702=) c.1828T>C (p.Leu610=) c.1990T>C (p.Leu664=) c.2086T>C (p.Leu696=) n.505T>C c.2047T>C (p.Leu683=) c.1879T>C (p.Leu627=) | |
| 21 | g.25891775A>T | CA409805536 | APP | c.2158T>A (p.Leu720Met) c.1933T>A (p.Leu645Met) c.1765T>A (p.Leu589Met) c.2101T>A (p.Leu701Met) c.2104T>A (p.Leu702Met) c.1828T>A (p.Leu610Met) c.1990T>A (p.Leu664Met) c.2086T>A (p.Leu696Met) n.505T>A c.2047T>A (p.Leu683Met) c.1879T>A (p.Leu627Met) | |
| 21 | g.25891776G>A | CA511685987 | APP | c.2157C>T (p.Thr719=) c.1932C>T (p.Thr644=) c.1764C>T (p.Thr588=) c.2100C>T (p.Thr700=) c.2103C>T (p.Thr701=) c.1827C>T (p.Thr609=) c.1989C>T (p.Thr663=) c.2085C>T (p.Thr695=) n.504C>T c.2046C>T (p.Thr682=) c.1878C>T (p.Thr626=) | |
| 21 | g.25891776G>C | CA511685988 | APP | c.2157C>G (p.Thr719=) c.1932C>G (p.Thr644=) c.1764C>G (p.Thr588=) c.2100C>G (p.Thr700=) c.2103C>G (p.Thr701=) c.1827C>G (p.Thr609=) c.1989C>G (p.Thr663=) c.2085C>G (p.Thr695=) n.504C>G c.2046C>G (p.Thr682=) c.1878C>G (p.Thr626=) | |
| 21 | g.25891776G>T | CA511685989 | APP | c.2157C>A (p.Thr719=) c.1932C>A (p.Thr644=) c.1764C>A (p.Thr588=) c.2100C>A (p.Thr700=) c.2103C>A (p.Thr701=) c.1827C>A (p.Thr609=) c.1989C>A (p.Thr663=) c.2085C>A (p.Thr695=) n.504C>A c.2046C>A (p.Thr682=) c.1878C>A (p.Thr626=) | |
| 21 | g.25891777G>A | CA409805537 | APP | 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) | |
| 21 | g.25891777G>C | CA409805538 | APP | 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) | |
| 21 | g.25891777G= | CA2383551607 | APP | 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=) | |
| 21 | g.25891777G>T | CA409805539 | APP | 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) | |
| 21 | g.25891778T>A | CA409805540 | APP | 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) | |
| 21 | g.25891778T>C | CA409805541 | APP | 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) | |
| 21 | g.25891778T>G | CA409805542 | APP | 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 |
| 21 | g.25891779G>A | CA511685992 | APP | 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=) | |
| 21 | g.25891779G>C | CA409805543 | APP | 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) | |
| 21 | g.25891779G>T | CA511685991 | APP | 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=) | |
| 21 | g.25891780A>C | CA409805544 | APP | 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) | |
| 21 | g.25891780A>G | CA409805545 | APP | 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) | |
| 21 | g.25891780A>T | CA409805546 | APP | 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) | |
| 21 | g.25891781T>A | CA409805548 | APP | 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) | gnomAD |
| 21 | g.25891781T>C | CA409805549 | APP | 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) | |
| 21 | g.25891781T>G | CA409805547 | APP | 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) | |
| 21 | g.25891781T= | CA2383551608 | APP | 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=) | |
| 21 | g.25891782G>A | CA511685995 | APP | 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=) | |
| 21 | g.25891782G>C | CA511685993 | APP | 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=) | |
| 21 | g.25891782G= | CA2383551609 | APP | 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=) | |
| 21 | g.25891782G>T | CA511685994 | APP | 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=) | |
| 21 | g.25891783A= | CA2383551610 | APP | 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=) | |
| 21 | g.25891783A>C | CA127793 | APP | 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 |
| 21 | g.25891783A>G | CA409805550 | APP | 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) | |
| 21 | g.25891783A>T | CA409805551 | APP | 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) | |
| 21 | g.25891784C>A | CA127792 | APP | 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 | 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 | 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 |