| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891853C>A | CA409805684 | APP | c.2080G>T (p.Asp694Tyr) c.1855G>T (p.Asp619Tyr) c.1687G>T (p.Asp563Tyr) c.2023G>T (p.Asp675Tyr) c.2026G>T (p.Asp676Tyr) c.1750G>T (p.Asp584Tyr) c.1912G>T (p.Asp638Tyr) c.2008G>T (p.Asp670Tyr) c.1969G>T (p.Asp657Tyr) c.1801G>T (p.Asp601Tyr) | |
| 21 | g.25891853C>G | CA409805685 | APP | c.2080G>C (p.Asp694His) c.1855G>C (p.Asp619His) c.1687G>C (p.Asp563His) c.2023G>C (p.Asp675His) c.2026G>C (p.Asp676His) c.1750G>C (p.Asp584His) c.1912G>C (p.Asp638His) c.2008G>C (p.Asp670His) c.1969G>C (p.Asp657His) c.1801G>C (p.Asp601His) | |
| 21 | g.25891853C>T | CA127804 | APP | c.2080G>A (p.Asp694Asn) c.1855G>A (p.Asp619Asn) c.1687G>A (p.Asp563Asn) c.2023G>A (p.Asp675Asn) c.2026G>A (p.Asp676Asn) c.1750G>A (p.Asp584Asn) c.1912G>A (p.Asp638Asn) c.2008G>A (p.Asp670Asn) c.1969G>A (p.Asp657Asn) c.1801G>A (p.Asp601Asn) | ClinVar dbSNP |
| 21 | g.25891854T>A | CA9987062 | APP | c.2079A>T (p.Glu693Asp) c.1854A>T (p.Glu618Asp) c.1686A>T (p.Glu562Asp) c.2022A>T (p.Glu674Asp) c.2025A>T (p.Glu675Asp) c.1749A>T (p.Glu583Asp) c.1911A>T (p.Glu637Asp) c.2007A>T (p.Glu669Asp) c.1968A>T (p.Glu656Asp) c.1800A>T (p.Glu600Asp) | dbSNP ExAC gnomAD |
| 21 | g.25891854T>C | CA511686046 | APP | c.2079A>G (p.Glu693=) c.1854A>G (p.Glu618=) c.1686A>G (p.Glu562=) c.2022A>G (p.Glu674=) c.2025A>G (p.Glu675=) c.1749A>G (p.Glu583=) c.1911A>G (p.Glu637=) c.2007A>G (p.Glu669=) c.1968A>G (p.Glu656=) c.1800A>G (p.Glu600=) | ClinVar |
| 21 | g.25891854T>G | CA409805686 | APP | c.2079A>C (p.Glu693Asp) c.1854A>C (p.Glu618Asp) c.1686A>C (p.Glu562Asp) c.2022A>C (p.Glu674Asp) c.2025A>C (p.Glu675Asp) c.1749A>C (p.Glu583Asp) c.1911A>C (p.Glu637Asp) c.2007A>C (p.Glu669Asp) c.1968A>C (p.Glu656Asp) c.1800A>C (p.Glu600Asp) | |
| 21 | g.25891855T>A | CA409805687 | APP | c.2078A>T (p.Glu693Val) c.1853A>T (p.Glu618Val) c.1685A>T (p.Glu562Val) c.2021A>T (p.Glu674Val) c.2024A>T (p.Glu675Val) c.1748A>T (p.Glu583Val) c.1910A>T (p.Glu637Val) c.2006A>T (p.Glu669Val) c.1967A>T (p.Glu656Val) c.1799A>T (p.Glu600Val) | |
| 21 | g.25891855T>C | CA127801 | APP | c.2078A>G (p.Glu693Gly) c.1853A>G (p.Glu618Gly) c.1685A>G (p.Glu562Gly) c.2021A>G (p.Glu674Gly) c.2024A>G (p.Glu675Gly) c.1748A>G (p.Glu583Gly) c.1910A>G (p.Glu637Gly) c.2006A>G (p.Glu669Gly) c.1967A>G (p.Glu656Gly) c.1799A>G (p.Glu600Gly) | ClinVar dbSNP |
| 21 | g.25891855T>G | CA409805688 | APP | c.2078A>C (p.Glu693Ala) c.1853A>C (p.Glu618Ala) c.1685A>C (p.Glu562Ala) c.2021A>C (p.Glu674Ala) c.2024A>C (p.Glu675Ala) c.1748A>C (p.Glu583Ala) c.1910A>C (p.Glu637Ala) c.2006A>C (p.Glu669Ala) c.1967A>C (p.Glu656Ala) c.1799A>C (p.Glu600Ala) | |
| 21 | g.25891856C>A | CA409805689 | APP | c.2077G>T (p.Glu693Ter) c.1852G>T (p.Glu618Ter) c.1684G>T (p.Glu562Ter) c.2020G>T (p.Glu674Ter) c.2023G>T (p.Glu675Ter) c.1747G>T (p.Glu583Ter) c.1909G>T (p.Glu637Ter) c.2005G>T (p.Glu669Ter) c.1966G>T (p.Glu656Ter) c.1798G>T (p.Glu600Ter) | |
| 21 | g.25891856C>G | CA127790 | APP | c.2077G>C (p.Glu693Gln) c.1852G>C (p.Glu618Gln) c.1684G>C (p.Glu562Gln) c.2020G>C (p.Glu674Gln) c.2023G>C (p.Glu675Gln) c.1747G>C (p.Glu583Gln) c.1909G>C (p.Glu637Gln) c.2005G>C (p.Glu669Gln) c.1966G>C (p.Glu656Gln) c.1798G>C (p.Glu600Gln) | ClinVar dbSNP |
| 21 | g.25891856C>T | CA127802 | APP | c.2077G>A (p.Glu693Lys) c.1852G>A (p.Glu618Lys) c.1684G>A (p.Glu562Lys) c.2020G>A (p.Glu674Lys) c.2023G>A (p.Glu675Lys) c.1747G>A (p.Glu583Lys) c.1909G>A (p.Glu637Lys) c.2005G>A (p.Glu669Lys) c.1966G>A (p.Glu656Lys) c.1798G>A (p.Glu600Lys) | ClinVar dbSNP |
| 21 | g.25891857T>A | CA511686048 | APP | c.2076A>T (p.Ala692=) c.1851A>T (p.Ala617=) c.1683A>T (p.Ala561=) c.2019A>T (p.Ala673=) c.2022A>T (p.Ala674=) c.1746A>T (p.Ala582=) c.1908A>T (p.Ala636=) c.2004A>T (p.Ala668=) c.1965A>T (p.Ala655=) c.1797A>T (p.Ala599=) | |
| 21 | g.25891857T>C | CA511686047 | APP | c.2076A>G (p.Ala692=) c.1851A>G (p.Ala617=) c.1683A>G (p.Ala561=) c.2019A>G (p.Ala673=) c.2022A>G (p.Ala674=) c.1746A>G (p.Ala582=) c.1908A>G (p.Ala636=) c.2004A>G (p.Ala668=) c.1965A>G (p.Ala655=) c.1797A>G (p.Ala599=) | |
| 21 | g.25891857T>G | CA511686049 | APP | c.2076A>C (p.Ala692=) c.1851A>C (p.Ala617=) c.1683A>C (p.Ala561=) c.2019A>C (p.Ala673=) c.2022A>C (p.Ala674=) c.1746A>C (p.Ala582=) c.1908A>C (p.Ala636=) c.2004A>C (p.Ala668=) c.1965A>C (p.Ala655=) c.1797A>C (p.Ala599=) | |
| 21 | g.25891858G>A | CA409805690 | APP | c.2075C>T (p.Ala692Val) c.1850C>T (p.Ala617Val) c.1682C>T (p.Ala561Val) c.2018C>T (p.Ala673Val) c.2021C>T (p.Ala674Val) c.1745C>T (p.Ala582Val) c.1907C>T (p.Ala636Val) c.2003C>T (p.Ala668Val) c.1964C>T (p.Ala655Val) c.1796C>T (p.Ala599Val) | |
| 21 | g.25891858G>C | CA127794 | APP | c.2075C>G (p.Ala692Gly) c.1850C>G (p.Ala617Gly) c.1682C>G (p.Ala561Gly) c.2018C>G (p.Ala673Gly) c.2021C>G (p.Ala674Gly) c.1745C>G (p.Ala582Gly) c.1907C>G (p.Ala636Gly) c.2003C>G (p.Ala668Gly) c.1964C>G (p.Ala655Gly) c.1796C>G (p.Ala599Gly) | ClinVar dbSNP |
| 21 | g.25891858G>T | CA409805691 | APP | c.2075C>A (p.Ala692Glu) c.1850C>A (p.Ala617Glu) c.1682C>A (p.Ala561Glu) c.2018C>A (p.Ala673Glu) c.2021C>A (p.Ala674Glu) c.1745C>A (p.Ala582Glu) c.1907C>A (p.Ala636Glu) c.2003C>A (p.Ala668Glu) c.1964C>A (p.Ala655Glu) c.1796C>A (p.Ala599Glu) | COSMIC |
| 21 | g.25891859C>A | CA409805692 | APP | c.2074G>T (p.Ala692Ser) c.1849G>T (p.Ala617Ser) c.1681G>T (p.Ala561Ser) c.2017G>T (p.Ala673Ser) c.2020G>T (p.Ala674Ser) c.1744G>T (p.Ala582Ser) c.1906G>T (p.Ala636Ser) c.2002G>T (p.Ala668Ser) c.1963G>T (p.Ala655Ser) c.1795G>T (p.Ala599Ser) | |
| 21 | g.25891859C>G | CA409805693 | APP | c.2074G>C (p.Ala692Pro) c.1849G>C (p.Ala617Pro) c.1681G>C (p.Ala561Pro) c.2017G>C (p.Ala673Pro) c.2020G>C (p.Ala674Pro) c.1744G>C (p.Ala582Pro) c.1906G>C (p.Ala636Pro) c.2002G>C (p.Ala668Pro) c.1963G>C (p.Ala655Pro) c.1795G>C (p.Ala599Pro) | |
| 21 | g.25891859C>T | CA409805694 | APP | c.2074G>A (p.Ala692Thr) c.1849G>A (p.Ala617Thr) c.1681G>A (p.Ala561Thr) c.2017G>A (p.Ala673Thr) c.2020G>A (p.Ala674Thr) c.1744G>A (p.Ala582Thr) c.1906G>A (p.Ala636Thr) c.2002G>A (p.Ala668Thr) c.1963G>A (p.Ala655Thr) c.1795G>A (p.Ala599Thr) | |
| 21 | g.25891860A>C | CA409805696 | APP | c.2073T>G (p.Phe691Leu) c.1848T>G (p.Phe616Leu) c.1680T>G (p.Phe560Leu) c.2016T>G (p.Phe672Leu) c.2019T>G (p.Phe673Leu) c.1743T>G (p.Phe581Leu) c.1905T>G (p.Phe635Leu) c.2001T>G (p.Phe667Leu) c.1962T>G (p.Phe654Leu) c.1794T>G (p.Phe598Leu) | |
| 21 | g.25891860A>G | CA511686050 | APP | c.2073T>C (p.Phe691=) c.1848T>C (p.Phe616=) c.1680T>C (p.Phe560=) c.2016T>C (p.Phe672=) c.2019T>C (p.Phe673=) c.1743T>C (p.Phe581=) c.1905T>C (p.Phe635=) c.2001T>C (p.Phe667=) c.1962T>C (p.Phe654=) c.1794T>C (p.Phe598=) | |
| 21 | g.25891860A>T | CA409805695 | APP | c.2073T>A (p.Phe691Leu) c.1848T>A (p.Phe616Leu) c.1680T>A (p.Phe560Leu) c.2016T>A (p.Phe672Leu) c.2019T>A (p.Phe673Leu) c.1743T>A (p.Phe581Leu) c.1905T>A (p.Phe635Leu) c.2001T>A (p.Phe667Leu) c.1962T>A (p.Phe654Leu) c.1794T>A (p.Phe598Leu) | |
| 21 | g.25891861A>C | CA409805697 | APP | c.2072T>G (p.Phe691Cys) c.1847T>G (p.Phe616Cys) c.1679T>G (p.Phe560Cys) c.2015T>G (p.Phe672Cys) c.2018T>G (p.Phe673Cys) c.1742T>G (p.Phe581Cys) c.1904T>G (p.Phe635Cys) c.2000T>G (p.Phe667Cys) c.1961T>G (p.Phe654Cys) c.1793T>G (p.Phe598Cys) | |
| 21 | g.25891861A>G | CA409805698 | APP | c.2072T>C (p.Phe691Ser) c.1847T>C (p.Phe616Ser) c.1679T>C (p.Phe560Ser) c.2015T>C (p.Phe672Ser) c.2018T>C (p.Phe673Ser) c.1742T>C (p.Phe581Ser) c.1904T>C (p.Phe635Ser) c.2000T>C (p.Phe667Ser) c.1961T>C (p.Phe654Ser) c.1793T>C (p.Phe598Ser) | |
| 21 | g.25891861A>T | CA409805699 | APP | c.2072T>A (p.Phe691Tyr) c.1847T>A (p.Phe616Tyr) c.1679T>A (p.Phe560Tyr) c.2015T>A (p.Phe672Tyr) c.2018T>A (p.Phe673Tyr) c.1742T>A (p.Phe581Tyr) c.1904T>A (p.Phe635Tyr) c.2000T>A (p.Phe667Tyr) c.1961T>A (p.Phe654Tyr) c.1793T>A (p.Phe598Tyr) | |
| 21 | g.25891862A>C | CA409805700 | APP | c.2071T>G (p.Phe691Val) c.1846T>G (p.Phe616Val) c.1678T>G (p.Phe560Val) c.2014T>G (p.Phe672Val) c.2017T>G (p.Phe673Val) c.1741T>G (p.Phe581Val) c.1903T>G (p.Phe635Val) c.1999T>G (p.Phe667Val) c.1960T>G (p.Phe654Val) c.1792T>G (p.Phe598Val) | |
| 21 | g.25891862A>G | CA409805701 | APP | c.2071T>C (p.Phe691Leu) c.1846T>C (p.Phe616Leu) c.1678T>C (p.Phe560Leu) c.2014T>C (p.Phe672Leu) c.2017T>C (p.Phe673Leu) c.1741T>C (p.Phe581Leu) c.1903T>C (p.Phe635Leu) c.1999T>C (p.Phe667Leu) c.1960T>C (p.Phe654Leu) c.1792T>C (p.Phe598Leu) | |
| 21 | g.25891862A>T | CA409805702 | APP | c.2071T>A (p.Phe691Ile) c.1846T>A (p.Phe616Ile) c.1678T>A (p.Phe560Ile) c.2014T>A (p.Phe672Ile) c.2017T>A (p.Phe673Ile) c.1741T>A (p.Phe581Ile) c.1903T>A (p.Phe635Ile) c.1999T>A (p.Phe667Ile) c.1960T>A (p.Phe654Ile) c.1792T>A (p.Phe598Ile) | |
| 21 | g.25891863G>A | CA511686051 | APP | c.2070C>T (p.Phe690=) c.1845C>T (p.Phe615=) c.1677C>T (p.Phe559=) c.2013C>T (p.Phe671=) c.2016C>T (p.Phe672=) c.1740C>T (p.Phe580=) c.1902C>T (p.Phe634=) c.1998C>T (p.Phe666=) c.1959C>T (p.Phe653=) c.1791C>T (p.Phe597=) | ClinVar |
| 21 | g.25891863G>C | CA409805703 | APP | c.2070C>G (p.Phe690Leu) c.1845C>G (p.Phe615Leu) c.1677C>G (p.Phe559Leu) c.2013C>G (p.Phe671Leu) c.2016C>G (p.Phe672Leu) c.1740C>G (p.Phe580Leu) c.1902C>G (p.Phe634Leu) c.1998C>G (p.Phe666Leu) c.1959C>G (p.Phe653Leu) c.1791C>G (p.Phe597Leu) | |
| 21 | g.25891863G>T | CA319097752 | APP | c.2070C>A (p.Phe690Leu) c.1845C>A (p.Phe615Leu) c.1677C>A (p.Phe559Leu) c.2013C>A (p.Phe671Leu) c.2016C>A (p.Phe672Leu) c.1740C>A (p.Phe580Leu) c.1902C>A (p.Phe634Leu) c.1998C>A (p.Phe666Leu) c.1959C>A (p.Phe653Leu) c.1791C>A (p.Phe597Leu) | dbSNP |
| 21 | g.25891864A>C | CA409805704 | APP | c.2069T>G (p.Phe690Cys) c.1844T>G (p.Phe615Cys) c.1676T>G (p.Phe559Cys) c.2012T>G (p.Phe671Cys) c.2015T>G (p.Phe672Cys) c.1739T>G (p.Phe580Cys) c.1901T>G (p.Phe634Cys) c.1997T>G (p.Phe666Cys) c.1958T>G (p.Phe653Cys) c.1790T>G (p.Phe597Cys) | |
| 21 | g.25891864A>G | CA409805705 | APP | c.2069T>C (p.Phe690Ser) c.1844T>C (p.Phe615Ser) c.1676T>C (p.Phe559Ser) c.2012T>C (p.Phe671Ser) c.2015T>C (p.Phe672Ser) c.1739T>C (p.Phe580Ser) c.1901T>C (p.Phe634Ser) c.1997T>C (p.Phe666Ser) c.1958T>C (p.Phe653Ser) c.1790T>C (p.Phe597Ser) | |
| 21 | g.25891864A>T | CA409805706 | APP | c.2069T>A (p.Phe690Tyr) c.1844T>A (p.Phe615Tyr) c.1676T>A (p.Phe559Tyr) c.2012T>A (p.Phe671Tyr) c.2015T>A (p.Phe672Tyr) c.1739T>A (p.Phe580Tyr) c.1901T>A (p.Phe634Tyr) c.1997T>A (p.Phe666Tyr) c.1958T>A (p.Phe653Tyr) c.1790T>A (p.Phe597Tyr) | |
| 21 | g.25891865A>C | CA409805707 | APP | c.2068T>G (p.Phe690Val) c.1843T>G (p.Phe615Val) c.1675T>G (p.Phe559Val) c.2011T>G (p.Phe671Val) c.2014T>G (p.Phe672Val) c.1738T>G (p.Phe580Val) c.1900T>G (p.Phe634Val) c.1996T>G (p.Phe666Val) c.1957T>G (p.Phe653Val) c.1789T>G (p.Phe597Val) | |
| 21 | g.25891865A>G | CA409805708 | APP | c.2068T>C (p.Phe690Leu) c.1843T>C (p.Phe615Leu) c.1675T>C (p.Phe559Leu) c.2011T>C (p.Phe671Leu) c.2014T>C (p.Phe672Leu) c.1738T>C (p.Phe580Leu) c.1900T>C (p.Phe634Leu) c.1996T>C (p.Phe666Leu) c.1957T>C (p.Phe653Leu) c.1789T>C (p.Phe597Leu) | |
| 21 | g.25891865A>T | CA409805709 | APP | c.2068T>A (p.Phe690Ile) c.1843T>A (p.Phe615Ile) c.1675T>A (p.Phe559Ile) c.2011T>A (p.Phe671Ile) c.2014T>A (p.Phe672Ile) c.1738T>A (p.Phe580Ile) c.1900T>A (p.Phe634Ile) c.1996T>A (p.Phe666Ile) c.1957T>A (p.Phe653Ile) c.1789T>A (p.Phe597Ile) | |
| 21 | g.25891866C>A | CA511686054 | APP | c.2067G>T (p.Val689=) c.1842G>T (p.Val614=) c.1674G>T (p.Val558=) c.2010G>T (p.Val670=) c.2013G>T (p.Val671=) c.1737G>T (p.Val579=) c.1899G>T (p.Val633=) c.1995G>T (p.Val665=) c.1956G>T (p.Val652=) c.1788G>T (p.Val596=) | |
| 21 | g.25891866C>G | CA511686052 | APP | c.2067G>C (p.Val689=) c.1842G>C (p.Val614=) c.1674G>C (p.Val558=) c.2010G>C (p.Val670=) c.2013G>C (p.Val671=) c.1737G>C (p.Val579=) c.1899G>C (p.Val633=) c.1995G>C (p.Val665=) c.1956G>C (p.Val652=) c.1788G>C (p.Val596=) | |
| 21 | g.25891866C>T | CA511686053 | APP | c.2067G>A (p.Val689=) c.1842G>A (p.Val614=) c.1674G>A (p.Val558=) c.2010G>A (p.Val670=) c.2013G>A (p.Val671=) c.1737G>A (p.Val579=) c.1899G>A (p.Val633=) c.1995G>A (p.Val665=) c.1956G>A (p.Val652=) c.1788G>A (p.Val596=) | |
| 21 | g.25891867A>C | CA409805710 | APP | c.2066T>G (p.Val689Gly) c.1841T>G (p.Val614Gly) c.1673T>G (p.Val558Gly) c.2009T>G (p.Val670Gly) c.2012T>G (p.Val671Gly) c.1736T>G (p.Val579Gly) c.1898T>G (p.Val633Gly) c.1994T>G (p.Val665Gly) c.1955T>G (p.Val652Gly) c.1787T>G (p.Val596Gly) | |
| 21 | g.25891867A>G | CA409805712 | APP | c.2066T>C (p.Val689Ala) c.1841T>C (p.Val614Ala) c.1673T>C (p.Val558Ala) c.2009T>C (p.Val670Ala) c.2012T>C (p.Val671Ala) c.1736T>C (p.Val579Ala) c.1898T>C (p.Val633Ala) c.1994T>C (p.Val665Ala) c.1955T>C (p.Val652Ala) c.1787T>C (p.Val596Ala) | |
| 21 | g.25891867A>T | CA409805711 | APP | c.2066T>A (p.Val689Glu) c.1841T>A (p.Val614Glu) c.1673T>A (p.Val558Glu) c.2009T>A (p.Val670Glu) c.2012T>A (p.Val671Glu) c.1736T>A (p.Val579Glu) c.1898T>A (p.Val633Glu) c.1994T>A (p.Val665Glu) c.1955T>A (p.Val652Glu) c.1787T>A (p.Val596Glu) | |
| 21 | g.25891868C>A | CA409805713 | APP | c.2065G>T (p.Val689Leu) c.1840G>T (p.Val614Leu) c.1672G>T (p.Val558Leu) c.2008G>T (p.Val670Leu) c.2011G>T (p.Val671Leu) c.1735G>T (p.Val579Leu) c.1897G>T (p.Val633Leu) c.1993G>T (p.Val665Leu) c.1954G>T (p.Val652Leu) c.1786G>T (p.Val596Leu) | |
| 21 | g.25891868C>G | CA409805714 | APP | c.2065G>C (p.Val689Leu) c.1840G>C (p.Val614Leu) c.1672G>C (p.Val558Leu) c.2008G>C (p.Val670Leu) c.2011G>C (p.Val671Leu) c.1735G>C (p.Val579Leu) c.1897G>C (p.Val633Leu) c.1993G>C (p.Val665Leu) c.1954G>C (p.Val652Leu) c.1786G>C (p.Val596Leu) | |
| 21 | g.25891868C>T | CA9987063 | APP | c.2065G>A (p.Val689Met) c.1840G>A (p.Val614Met) c.1672G>A (p.Val558Met) c.2008G>A (p.Val670Met) c.2011G>A (p.Val671Met) c.1735G>A (p.Val579Met) c.1897G>A (p.Val633Met) c.1993G>A (p.Val665Met) c.1954G>A (p.Val652Met) c.1786G>A (p.Val596Met) | dbSNP ExAC gnomAD |
| 21 | g.25891869C>A | CA409805715 | APP | c.2065-1G>T (p.=) c.1840-1G>T (p.=) c.1672-1G>T (p.=) c.2008-1G>T (p.=) c.2011-1G>T (p.=) c.1735-1G>T (p.=) c.1897-1G>T (p.=) c.1993-1G>T (p.=) c.1954-1G>T (p.=) c.1786-1G>T (p.=) | |
| 21 | g.25891869C>G | CA409805716 | APP | c.2065-1G>C (p.=) c.1840-1G>C (p.=) c.1672-1G>C (p.=) c.2008-1G>C (p.=) c.2011-1G>C (p.=) c.1735-1G>C (p.=) c.1897-1G>C (p.=) c.1993-1G>C (p.=) c.1954-1G>C (p.=) c.1786-1G>C (p.=) |