Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.25891746T>A | CA511685971 | APP | n.2154A>T n.584A>T n.853A>T c.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=) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.25891746T>C | CA511685969 | APP | n.2154A>G n.584A>G n.853A>G c.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=) | |
21 | g.25891746T>G | CA511685970 | APP | n.2154A>C n.584A>C n.853A>C c.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=) | |
21 | g.25891746T= | CA2383551602 | APP | n.2154A= n.584A= n.853A= c.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=) | |
21 | g.25891747G>A | CA409805466 | APP | n.2153C>T n.583C>T n.852C>T c.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) | gnomAD v4 |
21 | g.25891747G>C | CA409805467 | APP | n.2153C>G n.583C>G n.852C>G c.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) | |
21 | g.25891747G>T | CA409805468 | APP | n.2153C>A n.583C>A n.852C>A c.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) | |
21 | g.25891748T>A | CA409805469 | APP | n.2152A>T n.582A>T n.851A>T c.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) | |
21 | g.25891748T>C | CA409805470 | APP | n.2152A>G n.582A>G n.851A>G c.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 |
21 | g.25891748T>G | CA409805471 | APP | n.2152A>C n.582A>C n.851A>C c.2185A>C (p.Thr729Pro) c.1960A>C (p.Thr654Pro) c.1792A>C (p.Thr598Pro) c.2128A>C (p.Thr710Pro) c.2131A>C (p.Thr711Pro) c.1855A>C (p.Thr619Pro) c.2017A>C (p.Thr673Pro) c.2113A>C (p.Thr705Pro) n.532A>C c.2074A>C (p.Thr692Pro) c.1906A>C (p.Thr636Pro) | |
21 | g.25891749G>A | CA511685972 | APP | n.2151C>T n.581C>T n.850C>T c.2184C>T (p.Tyr728=) c.1959C>T (p.Tyr653=) c.1791C>T (p.Tyr597=) c.2127C>T (p.Tyr709=) c.2130C>T (p.Tyr710=) c.1854C>T (p.Tyr618=) c.2016C>T (p.Tyr672=) c.2112C>T (p.Tyr704=) n.531C>T c.2073C>T (p.Tyr691=) c.1905C>T (p.Tyr635=) | |
21 | g.25891749G>C | CA409805472 | APP | n.2151C>G n.581C>G n.850C>G c.2184C>G (p.Tyr728Ter) c.1959C>G (p.Tyr653Ter) c.1791C>G (p.Tyr597Ter) c.2127C>G (p.Tyr709Ter) c.2130C>G (p.Tyr710Ter) c.1854C>G (p.Tyr618Ter) c.2016C>G (p.Tyr672Ter) c.2112C>G (p.Tyr704Ter) n.531C>G c.2073C>G (p.Tyr691Ter) c.1905C>G (p.Tyr635Ter) | |
21 | g.25891749G>T | CA409805473 | APP | n.2151C>A n.581C>A n.850C>A c.2184C>A (p.Tyr728Ter) c.1959C>A (p.Tyr653Ter) c.1791C>A (p.Tyr597Ter) c.2127C>A (p.Tyr709Ter) c.2130C>A (p.Tyr710Ter) c.1854C>A (p.Tyr618Ter) c.2016C>A (p.Tyr672Ter) c.2112C>A (p.Tyr704Ter) n.531C>A c.2073C>A (p.Tyr691Ter) c.1905C>A (p.Tyr635Ter) | |
21 | g.25891750T>A | CA409805474 | APP | n.2150A>T n.580A>T n.849A>T c.2183A>T (p.Tyr728Phe) c.1958A>T (p.Tyr653Phe) c.1790A>T (p.Tyr597Phe) c.2126A>T (p.Tyr709Phe) c.2129A>T (p.Tyr710Phe) c.1853A>T (p.Tyr618Phe) c.2015A>T (p.Tyr672Phe) c.2111A>T (p.Tyr704Phe) n.530A>T c.2072A>T (p.Tyr691Phe) c.1904A>T (p.Tyr635Phe) | |
21 | g.25891750T>C | CA409805476 | APP | n.2150A>G n.580A>G n.849A>G c.2183A>G (p.Tyr728Cys) c.1958A>G (p.Tyr653Cys) c.1790A>G (p.Tyr597Cys) c.2126A>G (p.Tyr709Cys) c.2129A>G (p.Tyr710Cys) c.1853A>G (p.Tyr618Cys) c.2015A>G (p.Tyr672Cys) c.2111A>G (p.Tyr704Cys) n.530A>G c.2072A>G (p.Tyr691Cys) c.1904A>G (p.Tyr635Cys) | |
21 | g.25891750T>G | CA409805475 | APP | n.2150A>C n.580A>C n.849A>C c.2183A>C (p.Tyr728Ser) c.1958A>C (p.Tyr653Ser) c.1790A>C (p.Tyr597Ser) c.2126A>C (p.Tyr709Ser) c.2129A>C (p.Tyr710Ser) c.1853A>C (p.Tyr618Ser) c.2015A>C (p.Tyr672Ser) c.2111A>C (p.Tyr704Ser) n.530A>C c.2072A>C (p.Tyr691Ser) c.1904A>C (p.Tyr635Ser) | |
21 | g.25891751A>C | CA409805477 | APP | n.2149T>G n.579T>G n.848T>G c.2182T>G (p.Tyr728Asp) c.1957T>G (p.Tyr653Asp) c.1789T>G (p.Tyr597Asp) c.2125T>G (p.Tyr709Asp) c.2128T>G (p.Tyr710Asp) c.1852T>G (p.Tyr618Asp) c.2014T>G (p.Tyr672Asp) c.2110T>G (p.Tyr704Asp) n.529T>G c.2071T>G (p.Tyr691Asp) c.1903T>G (p.Tyr635Asp) | |
21 | g.25891751A>G | CA409805478 | APP | n.2149T>C n.579T>C n.848T>C c.2182T>C (p.Tyr728His) c.1957T>C (p.Tyr653His) c.1789T>C (p.Tyr597His) c.2125T>C (p.Tyr709His) c.2128T>C (p.Tyr710His) c.1852T>C (p.Tyr618His) c.2014T>C (p.Tyr672His) c.2110T>C (p.Tyr704His) n.529T>C c.2071T>C (p.Tyr691His) c.1903T>C (p.Tyr635His) | |
21 | g.25891751A>T | CA409805479 | APP | n.2149T>A n.579T>A n.848T>A c.2182T>A (p.Tyr728Asn) c.1957T>A (p.Tyr653Asn) c.1789T>A (p.Tyr597Asn) c.2125T>A (p.Tyr709Asn) c.2128T>A (p.Tyr710Asn) c.1852T>A (p.Tyr618Asn) c.2014T>A (p.Tyr672Asn) c.2110T>A (p.Tyr704Asn) n.529T>A c.2071T>A (p.Tyr691Asn) c.1903T>A (p.Tyr635Asn) | |
21 | g.25891752C>A | CA409805480 | APP | n.2148G>T n.578G>T n.847G>T c.2181G>T (p.Gln727His) c.1956G>T (p.Gln652His) c.1788G>T (p.Gln596His) c.2124G>T (p.Gln708His) c.2127G>T (p.Gln709His) c.1851G>T (p.Gln617His) c.2013G>T (p.Gln671His) c.2109G>T (p.Gln703His) n.528G>T c.2070G>T (p.Gln690His) c.1902G>T (p.Gln634His) | |
21 | g.25891752C>G | CA409805481 | APP | n.2148G>C n.578G>C n.847G>C c.2181G>C (p.Gln727His) c.1956G>C (p.Gln652His) c.1788G>C (p.Gln596His) c.2124G>C (p.Gln708His) c.2127G>C (p.Gln709His) c.1851G>C (p.Gln617His) c.2013G>C (p.Gln671His) c.2109G>C (p.Gln703His) n.528G>C c.2070G>C (p.Gln690His) c.1902G>C (p.Gln634His) | |
21 | g.25891752C>T | CA511685973 | APP | n.2148G>A n.578G>A n.847G>A c.2181G>A (p.Gln727=) c.1956G>A (p.Gln652=) c.1788G>A (p.Gln596=) c.2124G>A (p.Gln708=) c.2127G>A (p.Gln709=) c.1851G>A (p.Gln617=) c.2013G>A (p.Gln671=) c.2109G>A (p.Gln703=) n.528G>A c.2070G>A (p.Gln690=) c.1902G>A (p.Gln634=) | |
21 | g.25891753T>A | CA409805482 | APP | n.2147A>T n.577A>T n.846A>T c.2180A>T (p.Gln727Leu) c.1955A>T (p.Gln652Leu) c.1787A>T (p.Gln596Leu) c.2123A>T (p.Gln708Leu) c.2126A>T (p.Gln709Leu) c.1850A>T (p.Gln617Leu) c.2012A>T (p.Gln671Leu) c.2108A>T (p.Gln703Leu) n.527A>T c.2069A>T (p.Gln690Leu) c.1901A>T (p.Gln634Leu) | COSMIC |
21 | g.25891753T>C | CA409805483 | APP | n.2147A>G n.577A>G n.846A>G c.2180A>G (p.Gln727Arg) c.1955A>G (p.Gln652Arg) c.1787A>G (p.Gln596Arg) c.2123A>G (p.Gln708Arg) c.2126A>G (p.Gln709Arg) c.1850A>G (p.Gln617Arg) c.2012A>G (p.Gln671Arg) c.2108A>G (p.Gln703Arg) n.527A>G c.2069A>G (p.Gln690Arg) c.1901A>G (p.Gln634Arg) | |
21 | g.25891753T>G | CA409805484 | APP | n.2147A>C n.577A>C n.846A>C c.2180A>C (p.Gln727Pro) c.1955A>C (p.Gln652Pro) c.1787A>C (p.Gln596Pro) c.2123A>C (p.Gln708Pro) c.2126A>C (p.Gln709Pro) c.1850A>C (p.Gln617Pro) c.2012A>C (p.Gln671Pro) c.2108A>C (p.Gln703Pro) n.527A>C c.2069A>C (p.Gln690Pro) c.1901A>C (p.Gln634Pro) | |
21 | g.25891754G>A | CA409805485 | APP | n.2146C>T n.576C>T n.845C>T c.2179C>T (p.Gln727Ter) c.1954C>T (p.Gln652Ter) c.1786C>T (p.Gln596Ter) c.2122C>T (p.Gln708Ter) c.2125C>T (p.Gln709Ter) c.1849C>T (p.Gln617Ter) c.2011C>T (p.Gln671Ter) c.2107C>T (p.Gln703Ter) n.526C>T c.2068C>T (p.Gln690Ter) c.1900C>T (p.Gln634Ter) | |
21 | g.25891754G>C | CA409805486 | APP | n.2146C>G n.576C>G n.845C>G c.2179C>G (p.Gln727Glu) c.1954C>G (p.Gln652Glu) c.1786C>G (p.Gln596Glu) c.2122C>G (p.Gln708Glu) c.2125C>G (p.Gln709Glu) c.1849C>G (p.Gln617Glu) c.2011C>G (p.Gln671Glu) c.2107C>G (p.Gln703Glu) n.526C>G c.2068C>G (p.Gln690Glu) c.1900C>G (p.Gln634Glu) | |
21 | g.25891754G>T | CA409805487 | APP | n.2146C>A n.576C>A n.845C>A c.2179C>A (p.Gln727Lys) c.1954C>A (p.Gln652Lys) c.1786C>A (p.Gln596Lys) c.2122C>A (p.Gln708Lys) c.2125C>A (p.Gln709Lys) c.1849C>A (p.Gln617Lys) c.2011C>A (p.Gln671Lys) c.2107C>A (p.Gln703Lys) n.526C>A c.2068C>A (p.Gln690Lys) c.1900C>A (p.Gln634Lys) | |
21 | g.25891755T>A | CA409805488 | APP | n.2145A>T n.575A>T n.844A>T c.2178A>T (p.Lys726Asn) c.1953A>T (p.Lys651Asn) c.1785A>T (p.Lys595Asn) c.2121A>T (p.Lys707Asn) c.2124A>T (p.Lys708Asn) c.1848A>T (p.Lys616Asn) c.2010A>T (p.Lys670Asn) c.2106A>T (p.Lys702Asn) n.525A>T c.2067A>T (p.Lys689Asn) c.1899A>T (p.Lys633Asn) | |
21 | g.25891755T>C | CA511685974 | APP | n.2145A>G n.575A>G n.844A>G c.2178A>G (p.Lys726=) c.1953A>G (p.Lys651=) c.1785A>G (p.Lys595=) c.2121A>G (p.Lys707=) c.2124A>G (p.Lys708=) c.1848A>G (p.Lys616=) c.2010A>G (p.Lys670=) c.2106A>G (p.Lys702=) n.525A>G c.2067A>G (p.Lys689=) c.1899A>G (p.Lys633=) | |
21 | g.25891755T>G | CA409805489 | APP | n.2145A>C n.575A>C n.844A>C c.2178A>C (p.Lys726Asn) c.1953A>C (p.Lys651Asn) c.1785A>C (p.Lys595Asn) c.2121A>C (p.Lys707Asn) c.2124A>C (p.Lys708Asn) c.1848A>C (p.Lys616Asn) c.2010A>C (p.Lys670Asn) c.2106A>C (p.Lys702Asn) n.525A>C c.2067A>C (p.Lys689Asn) c.1899A>C (p.Lys633Asn) | |
21 | g.25891756T>A | CA409805490 | APP | n.2144A>T n.574A>T n.843A>T c.2177A>T (p.Lys726Ile) c.1952A>T (p.Lys651Ile) c.1784A>T (p.Lys595Ile) c.2120A>T (p.Lys707Ile) c.2123A>T (p.Lys708Ile) c.1847A>T (p.Lys616Ile) c.2009A>T (p.Lys670Ile) c.2105A>T (p.Lys702Ile) n.524A>T c.2066A>T (p.Lys689Ile) c.1898A>T (p.Lys633Ile) | |
21 | g.25891756T>C | CA409805492 | APP | n.2144A>G n.574A>G n.843A>G c.2177A>G (p.Lys726Arg) c.1952A>G (p.Lys651Arg) c.1784A>G (p.Lys595Arg) c.2120A>G (p.Lys707Arg) c.2123A>G (p.Lys708Arg) c.1847A>G (p.Lys616Arg) c.2009A>G (p.Lys670Arg) c.2105A>G (p.Lys702Arg) n.524A>G c.2066A>G (p.Lys689Arg) c.1898A>G (p.Lys633Arg) | |
21 | g.25891756T>G | CA409805491 | APP | n.2144A>C n.574A>C n.843A>C c.2177A>C (p.Lys726Thr) c.1952A>C (p.Lys651Thr) c.1784A>C (p.Lys595Thr) c.2120A>C (p.Lys707Thr) c.2123A>C (p.Lys708Thr) c.1847A>C (p.Lys616Thr) c.2009A>C (p.Lys670Thr) c.2105A>C (p.Lys702Thr) n.524A>C c.2066A>C (p.Lys689Thr) c.1898A>C (p.Lys633Thr) | |
21 | g.25891757T>A | CA409805493 | APP | n.2143A>T n.573A>T n.842A>T c.2176A>T (p.Lys726Ter) c.1951A>T (p.Lys651Ter) c.1783A>T (p.Lys595Ter) c.2119A>T (p.Lys707Ter) c.2122A>T (p.Lys708Ter) c.1846A>T (p.Lys616Ter) c.2008A>T (p.Lys670Ter) c.2104A>T (p.Lys702Ter) n.523A>T c.2065A>T (p.Lys689Ter) c.1897A>T (p.Lys633Ter) | |
21 | g.25891757T>C | CA409805494 | APP | n.2143A>G n.573A>G n.842A>G c.2176A>G (p.Lys726Glu) c.1951A>G (p.Lys651Glu) c.1783A>G (p.Lys595Glu) c.2119A>G (p.Lys707Glu) c.2122A>G (p.Lys708Glu) c.1846A>G (p.Lys616Glu) c.2008A>G (p.Lys670Glu) c.2104A>G (p.Lys702Glu) n.523A>G c.2065A>G (p.Lys689Glu) c.1897A>G (p.Lys633Glu) | |
21 | g.25891757T>G | CA409805495 | APP | n.2143A>C n.573A>C n.842A>C c.2176A>C (p.Lys726Gln) c.1951A>C (p.Lys651Gln) c.1783A>C (p.Lys595Gln) c.2119A>C (p.Lys707Gln) c.2122A>C (p.Lys708Gln) c.1846A>C (p.Lys616Gln) c.2008A>C (p.Lys670Gln) c.2104A>C (p.Lys702Gln) n.523A>C c.2065A>C (p.Lys689Gln) c.1897A>C (p.Lys633Gln) | |
21 | g.25891758C>A | CA409805496 | APP | n.2142G>T n.572G>T n.841G>T c.2175G>T (p.Lys725Asn) c.1950G>T (p.Lys650Asn) c.1782G>T (p.Lys594Asn) c.2118G>T (p.Lys706Asn) c.2121G>T (p.Lys707Asn) c.1845G>T (p.Lys615Asn) c.2007G>T (p.Lys669Asn) c.2103G>T (p.Lys701Asn) n.522G>T c.2064G>T (p.Lys688Asn) c.1896G>T (p.Lys632Asn) | |
21 | g.25891758C= | CA2383551603 | APP | n.2142G= n.572G= n.841G= c.2175G= (p.Lys725=) c.1950G= (p.Lys650=) c.1782G= (p.Lys594=) c.2118G= (p.Lys706=) c.2121G= (p.Lys707=) c.1845G= (p.Lys615=) c.2007G= (p.Lys669=) c.2103G= (p.Lys701=) n.522G= c.2064G= (p.Lys688=) c.1896G= (p.Lys632=) | |
21 | g.25891758C>G | CA409805497 | APP | n.2142G>C n.572G>C n.841G>C c.2175G>C (p.Lys725Asn) c.1950G>C (p.Lys650Asn) c.1782G>C (p.Lys594Asn) c.2118G>C (p.Lys706Asn) c.2121G>C (p.Lys707Asn) c.1845G>C (p.Lys615Asn) c.2007G>C (p.Lys669Asn) c.2103G>C (p.Lys701Asn) n.522G>C c.2064G>C (p.Lys688Asn) c.1896G>C (p.Lys632Asn) | ClinVar dbSNP gnomAD v4 |
21 | g.25891758C>T | CA511685975 | APP | n.2142G>A n.572G>A n.841G>A c.2175G>A (p.Lys725=) c.1950G>A (p.Lys650=) c.1782G>A (p.Lys594=) c.2118G>A (p.Lys706=) c.2121G>A (p.Lys707=) c.1845G>A (p.Lys615=) c.2007G>A (p.Lys669=) c.2103G>A (p.Lys701=) n.522G>A c.2064G>A (p.Lys688=) c.1896G>A (p.Lys632=) | dbSNP |
21 | g.25891759T>A | CA409805498 | APP | n.2141A>T n.571A>T n.840A>T c.2174A>T (p.Lys725Met) c.1949A>T (p.Lys650Met) c.1781A>T (p.Lys594Met) c.2117A>T (p.Lys706Met) c.2120A>T (p.Lys707Met) c.1844A>T (p.Lys615Met) c.2006A>T (p.Lys669Met) c.2102A>T (p.Lys701Met) n.521A>T c.2063A>T (p.Lys688Met) c.1895A>T (p.Lys632Met) | |
21 | g.25891759T>C | CA409805499 | APP | n.2141A>G n.571A>G n.840A>G c.2174A>G (p.Lys725Arg) c.1949A>G (p.Lys650Arg) c.1781A>G (p.Lys594Arg) c.2117A>G (p.Lys706Arg) c.2120A>G (p.Lys707Arg) c.1844A>G (p.Lys615Arg) c.2006A>G (p.Lys669Arg) c.2102A>G (p.Lys701Arg) n.521A>G c.2063A>G (p.Lys688Arg) c.1895A>G (p.Lys632Arg) | gnomAD v4 |
21 | g.25891759T>G | CA409805500 | APP | n.2141A>C n.571A>C n.840A>C c.2174A>C (p.Lys725Thr) c.1949A>C (p.Lys650Thr) c.1781A>C (p.Lys594Thr) c.2117A>C (p.Lys706Thr) c.2120A>C (p.Lys707Thr) c.1844A>C (p.Lys615Thr) c.2006A>C (p.Lys669Thr) c.2102A>C (p.Lys701Thr) n.521A>C c.2063A>C (p.Lys688Thr) c.1895A>C (p.Lys632Thr) | |
21 | g.25891760T>A | CA409805501 | APP | n.2140A>T n.570A>T n.839A>T c.2173A>T (p.Lys725Ter) c.1948A>T (p.Lys650Ter) c.1780A>T (p.Lys594Ter) c.2116A>T (p.Lys706Ter) c.2119A>T (p.Lys707Ter) c.1843A>T (p.Lys615Ter) c.2005A>T (p.Lys669Ter) c.2101A>T (p.Lys701Ter) n.520A>T c.2062A>T (p.Lys688Ter) c.1894A>T (p.Lys632Ter) | |
21 | g.25891760T>C | CA409805502 | APP | n.2140A>G n.570A>G n.839A>G c.2173A>G (p.Lys725Glu) c.1948A>G (p.Lys650Glu) c.1780A>G (p.Lys594Glu) c.2116A>G (p.Lys706Glu) c.2119A>G (p.Lys707Glu) c.1843A>G (p.Lys615Glu) c.2005A>G (p.Lys669Glu) c.2101A>G (p.Lys701Glu) n.520A>G c.2062A>G (p.Lys688Glu) c.1894A>G (p.Lys632Glu) | |
21 | g.25891760T>G | CA409805503 | APP | n.2140A>C n.570A>C n.839A>C c.2173A>C (p.Lys725Gln) c.1948A>C (p.Lys650Gln) c.1780A>C (p.Lys594Gln) c.2116A>C (p.Lys706Gln) c.2119A>C (p.Lys707Gln) c.1843A>C (p.Lys615Gln) c.2005A>C (p.Lys669Gln) c.2101A>C (p.Lys701Gln) n.520A>C c.2062A>C (p.Lys688Gln) c.1894A>C (p.Lys632Gln) | |
21 | g.25891761C>A | CA409805504 | APP | n.2139G>T n.569G>T n.838G>T c.2172G>T (p.Lys724Asn) c.1947G>T (p.Lys649Asn) c.1779G>T (p.Lys593Asn) c.2115G>T (p.Lys705Asn) c.2118G>T (p.Lys706Asn) c.1842G>T (p.Lys614Asn) c.2004G>T (p.Lys668Asn) c.2100G>T (p.Lys700Asn) n.519G>T c.2061G>T (p.Lys687Asn) c.1893G>T (p.Lys631Asn) | gnomAD v4 |
21 | g.25891761C= | CA2383551604 | APP | n.2139G= n.569G= n.838G= c.2172G= (p.Lys724=) c.1947G= (p.Lys649=) c.1779G= (p.Lys593=) c.2115G= (p.Lys705=) c.2118G= (p.Lys706=) c.1842G= (p.Lys614=) c.2004G= (p.Lys668=) c.2100G= (p.Lys700=) n.519G= c.2061G= (p.Lys687=) c.1893G= (p.Lys631=) | |
21 | g.25891761C>G | CA225514 | APP | n.2139G>C n.569G>C n.838G>C c.2172G>C (p.Lys724Asn) c.1947G>C (p.Lys649Asn) c.1779G>C (p.Lys593Asn) c.2115G>C (p.Lys705Asn) c.2118G>C (p.Lys706Asn) c.1842G>C (p.Lys614Asn) c.2004G>C (p.Lys668Asn) c.2100G>C (p.Lys700Asn) n.519G>C c.2061G>C (p.Lys687Asn) c.1893G>C (p.Lys631Asn) | ClinVar dbSNP |