| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.=) | |
| 21 | g.25891869C>T | CA409805717 | APP | c.2065-1G>A (p.=) c.1840-1G>A (p.=) c.1672-1G>A (p.=) c.2008-1G>A (p.=) c.2011-1G>A (p.=) c.1735-1G>A (p.=) c.1897-1G>A (p.=) c.1993-1G>A (p.=) c.1954-1G>A (p.=) c.1786-1G>A (p.=) | |
| 21 | g.25891870T>A | CA319097756 | APP | c.2065-2A>T (p.=) c.1840-2A>T (p.=) c.1672-2A>T (p.=) c.2008-2A>T (p.=) c.2011-2A>T (p.=) c.1735-2A>T (p.=) c.1897-2A>T (p.=) c.1993-2A>T (p.=) c.1954-2A>T (p.=) c.1786-2A>T (p.=) | dbSNP |
| 21 | g.25891870T>C | CA409805718 | APP | c.2065-2A>G (p.=) c.1840-2A>G (p.=) c.1672-2A>G (p.=) c.2008-2A>G (p.=) c.2011-2A>G (p.=) c.1735-2A>G (p.=) c.1897-2A>G (p.=) c.1993-2A>G (p.=) c.1954-2A>G (p.=) c.1786-2A>G (p.=) | |
| 21 | g.25891870T>G | CA409805719 | APP | c.2065-2A>C (p.=) c.1840-2A>C (p.=) c.1672-2A>C (p.=) c.2008-2A>C (p.=) c.2011-2A>C (p.=) c.1735-2A>C (p.=) c.1897-2A>C (p.=) c.1993-2A>C (p.=) c.1954-2A>C (p.=) c.1786-2A>C (p.=) | |
| 21 | g.25891871T>A | CA319097757 | APP | c.2065-3A>T (p.=) c.1840-3A>T (p.=) c.1672-3A>T (p.=) c.2008-3A>T (p.=) c.2011-3A>T (p.=) c.1735-3A>T (p.=) c.1897-3A>T (p.=) c.1993-3A>T (p.=) c.1954-3A>T (p.=) c.1786-3A>T (p.=) | dbSNP |
| 21 | g.25891877C>G | CA1021421755 | APP | c.2065-9G>C (p.=) c.1840-9G>C (p.=) c.1672-9G>C (p.=) c.2008-9G>C (p.=) c.2011-9G>C (p.=) c.1735-9G>C (p.=) c.1897-9G>C (p.=) c.1993-9G>C (p.=) c.1954-9G>C (p.=) c.1786-9G>C (p.=) | |
| 21 | g.25891878A>C | CA1021421767 | APP | c.2065-10T>G (p.=) c.1840-10T>G (p.=) c.1672-10T>G (p.=) c.2008-10T>G (p.=) c.2011-10T>G (p.=) c.1735-10T>G (p.=) c.1897-10T>G (p.=) c.1993-10T>G (p.=) c.1954-10T>G (p.=) c.1786-10T>G (p.=) | |
| 21 | g.25891878_25891882del | CA9987064 | APP | c.2065-16_2065-12del (p.=) c.1840-16_1840-12del (p.=) c.1672-16_1672-12del (p.=) c.2008-16_2008-12del (p.=) c.2011-16_2011-12del (p.=) c.1735-16_1735-12del (p.=) c.1897-16_1897-12del (p.=) c.1993-16_1993-12del (p.=) c.1954-16_1954-12del (p.=) c.1786-16_1786-12del (p.=) | dbSNP ExAC gnomAD |
| 21 | g.25891879_25891882del | CA637162693 | APP | c.2065-16_2065-13del (p.=) c.1840-16_1840-13del (p.=) c.1672-16_1672-13del (p.=) c.2008-16_2008-13del (p.=) c.2011-16_2011-13del (p.=) c.1735-16_1735-13del (p.=) c.1897-16_1897-13del (p.=) c.1993-16_1993-13del (p.=) c.1954-16_1954-13del (p.=) c.1786-16_1786-13del (p.=) | dbSNP gnomAD |
| 21 | g.25891880A>G | CA9987065 | APP | c.2065-12T>C (p.=) c.1840-12T>C (p.=) c.1672-12T>C (p.=) c.2008-12T>C (p.=) c.2011-12T>C (p.=) c.1735-12T>C (p.=) c.1897-12T>C (p.=) c.1993-12T>C (p.=) c.1954-12T>C (p.=) c.1786-12T>C (p.=) | dbSNP ExAC gnomAD |
| 21 | g.25891882_25891887del | CA9987066 | APP | c.2065-19_2065-14del (p.=) c.1840-19_1840-14del (p.=) c.1672-19_1672-14del (p.=) c.2008-19_2008-14del (p.=) c.2011-19_2011-14del (p.=) c.1735-19_1735-14del (p.=) c.1897-19_1897-14del (p.=) c.1993-19_1993-14del (p.=) c.1954-19_1954-14del (p.=) c.1786-19_1786-14del (p.=) | dbSNP ExAC gnomAD |
| 21 | g.25891883A>G | CA319097775 | APP | c.2065-15T>C (p.=) c.1840-15T>C (p.=) c.1672-15T>C (p.=) c.2008-15T>C (p.=) c.2011-15T>C (p.=) c.1735-15T>C (p.=) c.1897-15T>C (p.=) c.1993-15T>C (p.=) c.1954-15T>C (p.=) c.1786-15T>C (p.=) | dbSNP gnomAD |
| 21 | g.25891883_25891885del | CA9987067 | APP | c.2065-19_2065-17del (p.=) c.1840-19_1840-17del (p.=) c.1672-19_1672-17del (p.=) c.2008-19_2008-17del (p.=) c.2011-19_2011-17del (p.=) c.1735-19_1735-17del (p.=) c.1897-19_1897-17del (p.=) c.1993-19_1993-17del (p.=) c.1954-19_1954-17del (p.=) c.1786-19_1786-17del (p.=) | dbSNP ExAC gnomAD |
| 21 | g.25891887A>C | CA319097782 | APP | c.2065-19T>G (p.=) c.1840-19T>G (p.=) c.1672-19T>G (p.=) c.2008-19T>G (p.=) c.2011-19T>G (p.=) c.1735-19T>G (p.=) c.1897-19T>G (p.=) c.1993-19T>G (p.=) c.1954-19T>G (p.=) c.1786-19T>G (p.=) | dbSNP |
| 21 | g.25891890_25891891del | CA9987068 | APP | c.2065-24_2065-23del (p.=) c.1840-24_1840-23del (p.=) c.1672-24_1672-23del (p.=) c.2008-24_2008-23del (p.=) c.2011-24_2011-23del (p.=) c.1735-24_1735-23del (p.=) c.1897-24_1897-23del (p.=) c.1993-24_1993-23del (p.=) c.1954-24_1954-23del (p.=) c.1786-24_1786-23del (p.=) | dbSNP ExAC gnomAD |
| 21 | g.25891891G>A | CA1021421778 | APP | c.2065-23C>T (p.=) c.1840-23C>T (p.=) c.1672-23C>T (p.=) c.2008-23C>T (p.=) c.2011-23C>T (p.=) c.1735-23C>T (p.=) c.1897-23C>T (p.=) c.1993-23C>T (p.=) c.1954-23C>T (p.=) c.1786-23C>T (p.=) | |
| 21 | g.25891891G>C | CA9987069 | APP | c.2065-23C>G (p.=) c.1840-23C>G (p.=) c.1672-23C>G (p.=) c.2008-23C>G (p.=) c.2011-23C>G (p.=) c.1735-23C>G (p.=) c.1897-23C>G (p.=) c.1993-23C>G (p.=) c.1954-23C>G (p.=) c.1786-23C>G (p.=) | dbSNP ExAC gnomAD |
| 21 | g.25891891G>T | CA9987070 | APP | c.2065-23C>A (p.=) c.1840-23C>A (p.=) c.1672-23C>A (p.=) c.2008-23C>A (p.=) c.2011-23C>A (p.=) c.1735-23C>A (p.=) c.1897-23C>A (p.=) c.1993-23C>A (p.=) c.1954-23C>A (p.=) c.1786-23C>A (p.=) | dbSNP ExAC gnomAD COSMIC |
| 21 | g.25891894T>A | CA9987071 | APP | c.2065-26A>T (p.=) c.1840-26A>T (p.=) c.1672-26A>T (p.=) c.2008-26A>T (p.=) c.2011-26A>T (p.=) c.1735-26A>T (p.=) c.1897-26A>T (p.=) c.1993-26A>T (p.=) c.1954-26A>T (p.=) c.1786-26A>T (p.=) | dbSNP ExAC gnomAD |
| 21 | g.25891894T>C | CA9987072 | APP | c.2065-26A>G (p.=) c.1840-26A>G (p.=) c.1672-26A>G (p.=) c.2008-26A>G (p.=) c.2011-26A>G (p.=) c.1735-26A>G (p.=) c.1897-26A>G (p.=) c.1993-26A>G (p.=) c.1954-26A>G (p.=) c.1786-26A>G (p.=) | dbSNP ExAC gnomAD |
| 21 | g.25891896T>G | CA9987073 | APP | c.2065-28A>C (p.=) c.1840-28A>C (p.=) c.1672-28A>C (p.=) c.2008-28A>C (p.=) c.2011-28A>C (p.=) c.1735-28A>C (p.=) c.1897-28A>C (p.=) c.1993-28A>C (p.=) c.1954-28A>C (p.=) c.1786-28A>C (p.=) | dbSNP ExAC gnomAD |