Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.25891746T>ACA511685971APPn.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
21g.25891746T>CCA511685969APPn.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=)
21g.25891746T>GCA511685970APPn.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=)
21g.25891746T=CA2383551602APPn.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=)
21g.25891747G>ACA409805466APPn.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
21g.25891747G>CCA409805467APPn.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)
21g.25891747G>TCA409805468APPn.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)
21g.25891748T>ACA409805469APPn.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)
21g.25891748T>CCA409805470APPn.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
21g.25891748T>GCA409805471APPn.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)
21g.25891749G>ACA511685972APPn.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=)
21g.25891749G>CCA409805472APPn.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)
21g.25891749G>TCA409805473APPn.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)
21g.25891750T>ACA409805474APPn.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)
21g.25891750T>CCA409805476APPn.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)
21g.25891750T>GCA409805475APPn.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)
21g.25891751A>CCA409805477APPn.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)
21g.25891751A>GCA409805478APPn.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)
21g.25891751A>TCA409805479APPn.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)
21g.25891752C>ACA409805480APPn.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)
21g.25891752C>GCA409805481APPn.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)
21g.25891752C>TCA511685973APPn.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=)
21g.25891753T>ACA409805482APPn.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
21g.25891753T>CCA409805483APPn.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)
21g.25891753T>GCA409805484APPn.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)
21g.25891754G>ACA409805485APPn.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)
21g.25891754G>CCA409805486APPn.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)
21g.25891754G>TCA409805487APPn.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)
21g.25891755T>ACA409805488APPn.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)
21g.25891755T>CCA511685974APPn.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=)
21g.25891755T>GCA409805489APPn.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)
21g.25891756T>ACA409805490APPn.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)
21g.25891756T>CCA409805492APPn.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)
21g.25891756T>GCA409805491APPn.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)
21g.25891757T>ACA409805493APPn.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)
21g.25891757T>CCA409805494APPn.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)
21g.25891757T>GCA409805495APPn.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)
21g.25891758C>ACA409805496APPn.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)
21g.25891758C=CA2383551603APPn.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=)
21g.25891758C>GCA409805497APPn.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
21g.25891758C>TCA511685975APPn.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
21g.25891759T>ACA409805498APPn.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)
21g.25891759T>CCA409805499APPn.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
21g.25891759T>GCA409805500APPn.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)
21g.25891760T>ACA409805501APPn.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)
21g.25891760T>CCA409805502APPn.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)
21g.25891760T>GCA409805503APPn.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)
21g.25891761C>ACA409805504APPn.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
21g.25891761C=CA2383551604APPn.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=)
21g.25891761C>GCA225514APPn.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

Number of alleles fetched