Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.25891801A>CCA409805576APPn.2099T>G
n.529T>G
n.798T>G
c.2132T>G (p.Val711Gly)
c.1907T>G (p.Val636Gly)
c.1739T>G (p.Val580Gly)
c.2075T>G (p.Val692Gly)
c.2078T>G (p.Val693Gly)
c.1802T>G (p.Val601Gly)
c.1964T>G (p.Val655Gly)
c.2060T>G (p.Val687Gly)
n.479T>G
c.2021T>G (p.Val674Gly)
c.1853T>G (p.Val618Gly)
21g.25891801A>GCA409805577APPn.2099T>C
n.529T>C
n.798T>C
c.2132T>C (p.Val711Ala)
c.1907T>C (p.Val636Ala)
c.1739T>C (p.Val580Ala)
c.2075T>C (p.Val692Ala)
c.2078T>C (p.Val693Ala)
c.1802T>C (p.Val601Ala)
c.1964T>C (p.Val655Ala)
c.2060T>C (p.Val687Ala)
n.479T>C
c.2021T>C (p.Val674Ala)
c.1853T>C (p.Val618Ala)
21g.25891801A>TCA409805578APPn.2099T>A
n.529T>A
n.798T>A
c.2132T>A (p.Val711Asp)
c.1907T>A (p.Val636Asp)
c.1739T>A (p.Val580Asp)
c.2075T>A (p.Val692Asp)
c.2078T>A (p.Val693Asp)
c.1802T>A (p.Val601Asp)
c.1964T>A (p.Val655Asp)
c.2060T>A (p.Val687Asp)
n.479T>A
c.2021T>A (p.Val674Asp)
c.1853T>A (p.Val618Asp)
21g.25891804_25891806delCA2654122451APPn.2097_2099del
n.527_529del
n.796_798del
c.2130_2132del (p.Val711del)
c.1905_1907del (p.Val636del)
c.1737_1739del (p.Val580del)
c.2073_2075del (p.Val692del)
c.2076_2078del (p.Val693del)
c.1800_1802del (p.Val601del)
c.1962_1964del (p.Val655del)
c.2058_2060del (p.Val687del)
n.477_479del
c.2019_2021del (p.Val674del)
c.1851_1853del (p.Val618del)
gnomAD v4
21g.25891802C>ACA409805580APPn.2098G>T
n.528G>T
n.797G>T
c.2131G>T (p.Val711Phe)
c.1906G>T (p.Val636Phe)
c.1738G>T (p.Val580Phe)
c.2074G>T (p.Val692Phe)
c.2077G>T (p.Val693Phe)
c.1801G>T (p.Val601Phe)
c.1963G>T (p.Val655Phe)
c.2059G>T (p.Val687Phe)
n.478G>T
c.2020G>T (p.Val674Phe)
c.1852G>T (p.Val618Phe)
21g.25891802C>GCA409805581APPn.2098G>C
n.528G>C
n.797G>C
c.2131G>C (p.Val711Leu)
c.1906G>C (p.Val636Leu)
c.1738G>C (p.Val580Leu)
c.2074G>C (p.Val692Leu)
c.2077G>C (p.Val693Leu)
c.1801G>C (p.Val601Leu)
c.1963G>C (p.Val655Leu)
c.2059G>C (p.Val687Leu)
n.478G>C
c.2020G>C (p.Val674Leu)
c.1852G>C (p.Val618Leu)
21g.25891802C>TCA409805579APPn.2098G>A
n.528G>A
n.797G>A
c.2131G>A (p.Val711Ile)
c.1906G>A (p.Val636Ile)
c.1738G>A (p.Val580Ile)
c.2074G>A (p.Val692Ile)
c.2077G>A (p.Val693Ile)
c.1801G>A (p.Val601Ile)
c.1963G>A (p.Val655Ile)
c.2059G>A (p.Val687Ile)
n.478G>A
c.2020G>A (p.Val674Ile)
c.1852G>A (p.Val618Ile)
gnomAD v4
21g.25891803A=CA2383551625APPn.2097T=
n.527T=
n.796T=
c.2130T= (p.Val710=)
c.1905T= (p.Val635=)
c.1737T= (p.Val579=)
c.2073T= (p.Val691=)
c.2076T= (p.Val692=)
c.1800T= (p.Val600=)
c.1962T= (p.Val654=)
c.2058T= (p.Val686=)
n.477T=
c.2019T= (p.Val673=)
c.1851T= (p.Val617=)
21g.25891803A>CCA511686009APPn.2097T>G
n.527T>G
n.796T>G
c.2130T>G (p.Val710=)
c.1905T>G (p.Val635=)
c.1737T>G (p.Val579=)
c.2073T>G (p.Val691=)
c.2076T>G (p.Val692=)
c.1800T>G (p.Val600=)
c.1962T>G (p.Val654=)
c.2058T>G (p.Val686=)
n.477T>G
c.2019T>G (p.Val673=)
c.1851T>G (p.Val617=)
21g.25891803A>GCA511686010APPn.2097T>C
n.527T>C
n.796T>C
c.2130T>C (p.Val710=)
c.1905T>C (p.Val635=)
c.1737T>C (p.Val579=)
c.2073T>C (p.Val691=)
c.2076T>C (p.Val692=)
c.1800T>C (p.Val600=)
c.1962T>C (p.Val654=)
c.2058T>C (p.Val686=)
n.477T>C
c.2019T>C (p.Val673=)
c.1851T>C (p.Val617=)
dbSNP gnomAD v3 gnomAD v4
21g.25891803A>TCA511686008APPn.2097T>A
n.527T>A
n.796T>A
c.2130T>A (p.Val710=)
c.1905T>A (p.Val635=)
c.1737T>A (p.Val579=)
c.2073T>A (p.Val691=)
c.2076T>A (p.Val692=)
c.1800T>A (p.Val600=)
c.1962T>A (p.Val654=)
c.2058T>A (p.Val686=)
n.477T>A
c.2019T>A (p.Val673=)
c.1851T>A (p.Val617=)
21g.25891804A>CCA409805582APPn.2096T>G
n.526T>G
n.795T>G
c.2129T>G (p.Val710Gly)
c.1904T>G (p.Val635Gly)
c.1736T>G (p.Val579Gly)
c.2072T>G (p.Val691Gly)
c.2075T>G (p.Val692Gly)
c.1799T>G (p.Val600Gly)
c.1961T>G (p.Val654Gly)
c.2057T>G (p.Val686Gly)
n.476T>G
c.2018T>G (p.Val673Gly)
c.1850T>G (p.Val617Gly)
gnomAD v4
21g.25891804A>GCA409805583APPn.2096T>C
n.526T>C
n.795T>C
c.2129T>C (p.Val710Ala)
c.1904T>C (p.Val635Ala)
c.1736T>C (p.Val579Ala)
c.2072T>C (p.Val691Ala)
c.2075T>C (p.Val692Ala)
c.1799T>C (p.Val600Ala)
c.1961T>C (p.Val654Ala)
c.2057T>C (p.Val686Ala)
n.476T>C
c.2018T>C (p.Val673Ala)
c.1850T>C (p.Val617Ala)
21g.25891804A>TCA409805584APPn.2096T>A
n.526T>A
n.795T>A
c.2129T>A (p.Val710Asp)
c.1904T>A (p.Val635Asp)
c.1736T>A (p.Val579Asp)
c.2072T>A (p.Val691Asp)
c.2075T>A (p.Val692Asp)
c.1799T>A (p.Val600Asp)
c.1961T>A (p.Val654Asp)
c.2057T>A (p.Val686Asp)
n.476T>A
c.2018T>A (p.Val673Asp)
c.1850T>A (p.Val617Asp)
21g.25891805C>ACA409805585APPn.2095G>T
n.525G>T
n.794G>T
c.2128G>T (p.Val710Phe)
c.1903G>T (p.Val635Phe)
c.1735G>T (p.Val579Phe)
c.2071G>T (p.Val691Phe)
c.2074G>T (p.Val692Phe)
c.1798G>T (p.Val600Phe)
c.1960G>T (p.Val654Phe)
c.2056G>T (p.Val686Phe)
n.475G>T
c.2017G>T (p.Val673Phe)
c.1849G>T (p.Val617Phe)
21g.25891805C=CA2383551626APPn.2095G=
n.525G=
n.794G=
c.2128G= (p.Val710=)
c.1903G= (p.Val635=)
c.1735G= (p.Val579=)
c.2071G= (p.Val691=)
c.2074G= (p.Val692=)
c.1798G= (p.Val600=)
c.1960G= (p.Val654=)
c.2056G= (p.Val686=)
n.475G=
c.2017G= (p.Val673=)
c.1849G= (p.Val617=)
21g.25891805C>GCA409805586APPn.2095G>C
n.525G>C
n.794G>C
c.2128G>C (p.Val710Leu)
c.1903G>C (p.Val635Leu)
c.1735G>C (p.Val579Leu)
c.2071G>C (p.Val691Leu)
c.2074G>C (p.Val692Leu)
c.1798G>C (p.Val600Leu)
c.1960G>C (p.Val654Leu)
c.2056G>C (p.Val686Leu)
n.475G>C
c.2017G>C (p.Val673Leu)
c.1849G>C (p.Val617Leu)
21g.25891805C>TCA9987053APPn.2095G>A
n.525G>A
n.794G>A
c.2128G>A (p.Val710Ile)
c.1903G>A (p.Val635Ile)
c.1735G>A (p.Val579Ile)
c.2071G>A (p.Val691Ile)
c.2074G>A (p.Val692Ile)
c.1798G>A (p.Val600Ile)
c.1960G>A (p.Val654Ile)
c.2056G>A (p.Val686Ile)
n.475G>A
c.2017G>A (p.Val673Ile)
c.1849G>A (p.Val617Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25891806A>CCA511686013APPn.2094T>G
n.524T>G
n.793T>G
c.2127T>G (p.Gly709=)
c.1902T>G (p.Gly634=)
c.1734T>G (p.Gly578=)
c.2070T>G (p.Gly690=)
c.2073T>G (p.Gly691=)
c.1797T>G (p.Gly599=)
c.1959T>G (p.Gly653=)
c.2055T>G (p.Gly685=)
n.474T>G
c.2016T>G (p.Gly672=)
c.1848T>G (p.Gly616=)
21g.25891806A>GCA511686011APPn.2094T>C
n.524T>C
n.793T>C
c.2127T>C (p.Gly709=)
c.1902T>C (p.Gly634=)
c.1734T>C (p.Gly578=)
c.2070T>C (p.Gly690=)
c.2073T>C (p.Gly691=)
c.1797T>C (p.Gly599=)
c.1959T>C (p.Gly653=)
c.2055T>C (p.Gly685=)
n.474T>C
c.2016T>C (p.Gly672=)
c.1848T>C (p.Gly616=)
gnomAD v4 COSMIC
21g.25891806A>TCA511686012APPn.2094T>A
n.524T>A
n.793T>A
c.2127T>A (p.Gly709=)
c.1902T>A (p.Gly634=)
c.1734T>A (p.Gly578=)
c.2070T>A (p.Gly690=)
c.2073T>A (p.Gly691=)
c.1797T>A (p.Gly599=)
c.1959T>A (p.Gly653=)
c.2055T>A (p.Gly685=)
n.474T>A
c.2016T>A (p.Gly672=)
c.1848T>A (p.Gly616=)
21g.25891807C>ACA9987054APPn.2093G>T
n.523G>T
n.792G>T
c.2126G>T (p.Gly709Val)
c.1901G>T (p.Gly634Val)
c.1733G>T (p.Gly578Val)
c.2069G>T (p.Gly690Val)
c.2072G>T (p.Gly691Val)
c.1796G>T (p.Gly599Val)
c.1958G>T (p.Gly653Val)
c.2054G>T (p.Gly685Val)
n.473G>T
c.2015G>T (p.Gly672Val)
c.1847G>T (p.Gly616Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25891807C=CA2383551627APPn.2093G=
n.523G=
n.792G=
c.2126G= (p.Gly709=)
c.1901G= (p.Gly634=)
c.1733G= (p.Gly578=)
c.2069G= (p.Gly690=)
c.2072G= (p.Gly691=)
c.1796G= (p.Gly599=)
c.1958G= (p.Gly653=)
c.2054G= (p.Gly685=)
n.473G=
c.2015G= (p.Gly672=)
c.1847G= (p.Gly616=)
21g.25891807C>GCA409805588APPn.2093G>C
n.523G>C
n.792G>C
c.2126G>C (p.Gly709Ala)
c.1901G>C (p.Gly634Ala)
c.1733G>C (p.Gly578Ala)
c.2069G>C (p.Gly690Ala)
c.2072G>C (p.Gly691Ala)
c.1796G>C (p.Gly599Ala)
c.1958G>C (p.Gly653Ala)
c.2054G>C (p.Gly685Ala)
n.473G>C
c.2015G>C (p.Gly672Ala)
c.1847G>C (p.Gly616Ala)
COSMIC
21g.25891807C>TCA409805587APPn.2093G>A
n.523G>A
n.792G>A
c.2126G>A (p.Gly709Asp)
c.1901G>A (p.Gly634Asp)
c.1733G>A (p.Gly578Asp)
c.2069G>A (p.Gly690Asp)
c.2072G>A (p.Gly691Asp)
c.1796G>A (p.Gly599Asp)
c.1958G>A (p.Gly653Asp)
c.2054G>A (p.Gly685Asp)
n.473G>A
c.2015G>A (p.Gly672Asp)
c.1847G>A (p.Gly616Asp)
21g.25891808C>ACA9987056APPn.2092G>T
n.522G>T
n.791G>T
c.2125G>T (p.Gly709Cys)
c.1900G>T (p.Gly634Cys)
c.1732G>T (p.Gly578Cys)
c.2068G>T (p.Gly690Cys)
c.2071G>T (p.Gly691Cys)
c.1795G>T (p.Gly599Cys)
c.1957G>T (p.Gly653Cys)
c.2053G>T (p.Gly685Cys)
n.472G>T
c.2014G>T (p.Gly672Cys)
c.1846G>T (p.Gly616Cys)
dbSNP ExAC
21g.25891808C=CA2383551628APPn.2092G=
n.522G=
n.791G=
c.2125G= (p.Gly709=)
c.1900G= (p.Gly634=)
c.1732G= (p.Gly578=)
c.2068G= (p.Gly690=)
c.2071G= (p.Gly691=)
c.1795G= (p.Gly599=)
c.1957G= (p.Gly653=)
c.2053G= (p.Gly685=)
n.472G=
c.2014G= (p.Gly672=)
c.1846G= (p.Gly616=)
21g.25891808C>GCA409805589APPn.2092G>C
n.522G>C
n.791G>C
c.2125G>C (p.Gly709Arg)
c.1900G>C (p.Gly634Arg)
c.1732G>C (p.Gly578Arg)
c.2068G>C (p.Gly690Arg)
c.2071G>C (p.Gly691Arg)
c.1795G>C (p.Gly599Arg)
c.1957G>C (p.Gly653Arg)
c.2053G>C (p.Gly685Arg)
n.472G>C
c.2014G>C (p.Gly672Arg)
c.1846G>C (p.Gly616Arg)
21g.25891808C>TCA9987055APPn.2092G>A
n.522G>A
n.791G>A
c.2125G>A (p.Gly709Ser)
c.1900G>A (p.Gly634Ser)
c.1732G>A (p.Gly578Ser)
c.2068G>A (p.Gly690Ser)
c.2071G>A (p.Gly691Ser)
c.1795G>A (p.Gly599Ser)
c.1957G>A (p.Gly653Ser)
c.2053G>A (p.Gly685Ser)
n.472G>A
c.2014G>A (p.Gly672Ser)
c.1846G>A (p.Gly616Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25891809G>ACA9987057APPn.2091C>T
n.521C>T
n.790C>T
c.2124C>T (p.Gly708=)
c.1899C>T (p.Gly633=)
c.1731C>T (p.Gly577=)
c.2067C>T (p.Gly689=)
c.2070C>T (p.Gly690=)
c.1794C>T (p.Gly598=)
c.1956C>T (p.Gly652=)
c.2052C>T (p.Gly684=)
n.471C>T
c.2013C>T (p.Gly671=)
c.1845C>T (p.Gly615=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.25891809G>CCA511686014APPn.2091C>G
n.521C>G
n.790C>G
c.2124C>G (p.Gly708=)
c.1899C>G (p.Gly633=)
c.1731C>G (p.Gly577=)
c.2067C>G (p.Gly689=)
c.2070C>G (p.Gly690=)
c.1794C>G (p.Gly598=)
c.1956C>G (p.Gly652=)
c.2052C>G (p.Gly684=)
n.471C>G
c.2013C>G (p.Gly671=)
c.1845C>G (p.Gly615=)
21g.25891809G=CA2383551629APPn.2091C=
n.521C=
n.790C=
c.2124C= (p.Gly708=)
c.1899C= (p.Gly633=)
c.1731C= (p.Gly577=)
c.2067C= (p.Gly689=)
c.2070C= (p.Gly690=)
c.1794C= (p.Gly598=)
c.1956C= (p.Gly652=)
c.2052C= (p.Gly684=)
n.471C=
c.2013C= (p.Gly671=)
c.1845C= (p.Gly615=)
21g.25891809G>TCA511686015APPn.2091C>A
n.521C>A
n.790C>A
c.2124C>A (p.Gly708=)
c.1899C>A (p.Gly633=)
c.1731C>A (p.Gly577=)
c.2067C>A (p.Gly689=)
c.2070C>A (p.Gly690=)
c.1794C>A (p.Gly598=)
c.1956C>A (p.Gly652=)
c.2052C>A (p.Gly684=)
n.471C>A
c.2013C>A (p.Gly671=)
c.1845C>A (p.Gly615=)
21g.25891810C>ACA409805590APPn.2090G>T
n.520G>T
n.789G>T
c.2123G>T (p.Gly708Val)
c.1898G>T (p.Gly633Val)
c.1730G>T (p.Gly577Val)
c.2066G>T (p.Gly689Val)
c.2069G>T (p.Gly690Val)
c.1793G>T (p.Gly598Val)
c.1955G>T (p.Gly652Val)
c.2051G>T (p.Gly684Val)
n.470G>T
c.2012G>T (p.Gly671Val)
c.1844G>T (p.Gly615Val)
21g.25891810C>GCA409805592APPn.2090G>C
n.520G>C
n.789G>C
c.2123G>C (p.Gly708Ala)
c.1898G>C (p.Gly633Ala)
c.1730G>C (p.Gly577Ala)
c.2066G>C (p.Gly689Ala)
c.2069G>C (p.Gly690Ala)
c.1793G>C (p.Gly598Ala)
c.1955G>C (p.Gly652Ala)
c.2051G>C (p.Gly684Ala)
n.470G>C
c.2012G>C (p.Gly671Ala)
c.1844G>C (p.Gly615Ala)
21g.25891810C>TCA409805591APPn.2090G>A
n.520G>A
n.789G>A
c.2123G>A (p.Gly708Asp)
c.1898G>A (p.Gly633Asp)
c.1730G>A (p.Gly577Asp)
c.2066G>A (p.Gly689Asp)
c.2069G>A (p.Gly690Asp)
c.1793G>A (p.Gly598Asp)
c.1955G>A (p.Gly652Asp)
c.2051G>A (p.Gly684Asp)
n.470G>A
c.2012G>A (p.Gly671Asp)
c.1844G>A (p.Gly615Asp)
21g.25891811_25891815dupCA2589711790APPn.2086_2090dup
n.516_520dup
n.785_789dup
c.2119_2123dup (p.Gly709TrpfsTer6)
c.1894_1898dup (p.Gly634TrpfsTer6)
c.1726_1730dup (p.Gly578TrpfsTer6)
c.2062_2066dup (p.Gly690TrpfsTer6)
c.2065_2069dup (p.Gly691TrpfsTer6)
c.1789_1793dup (p.Gly599TrpfsTer6)
c.1951_1955dup (p.Gly653TrpfsTer6)
c.2047_2051dup (p.Gly685TrpfsTer6)
n.466_470dup
c.2008_2012dup (p.Gly672TrpfsTer6)
c.1840_1844dup (p.Gly616TrpfsTer6)
gnomAD v3 gnomAD v4
21g.25891811C>ACA409805593APPn.2089G>T
n.519G>T
n.788G>T
c.2122G>T (p.Gly708Cys)
c.1897G>T (p.Gly633Cys)
c.1729G>T (p.Gly577Cys)
c.2065G>T (p.Gly689Cys)
c.2068G>T (p.Gly690Cys)
c.1792G>T (p.Gly598Cys)
c.1954G>T (p.Gly652Cys)
c.2050G>T (p.Gly684Cys)
n.469G>T
c.2011G>T (p.Gly671Cys)
c.1843G>T (p.Gly615Cys)
21g.25891811C>GCA409805594APPn.2089G>C
n.519G>C
n.788G>C
c.2122G>C (p.Gly708Arg)
c.1897G>C (p.Gly633Arg)
c.1729G>C (p.Gly577Arg)
c.2065G>C (p.Gly689Arg)
c.2068G>C (p.Gly690Arg)
c.1792G>C (p.Gly598Arg)
c.1954G>C (p.Gly652Arg)
c.2050G>C (p.Gly684Arg)
n.469G>C
c.2011G>C (p.Gly671Arg)
c.1843G>C (p.Gly615Arg)
21g.25891811C>TCA409805595APPn.2089G>A
n.519G>A
n.788G>A
c.2122G>A (p.Gly708Ser)
c.1897G>A (p.Gly633Ser)
c.1729G>A (p.Gly577Ser)
c.2065G>A (p.Gly689Ser)
c.2068G>A (p.Gly690Ser)
c.1792G>A (p.Gly598Ser)
c.1954G>A (p.Gly652Ser)
c.2050G>A (p.Gly684Ser)
n.469G>A
c.2011G>A (p.Gly671Ser)
c.1843G>A (p.Gly615Ser)
21g.25891812C>ACA511686017APPn.2088G>T
n.518G>T
n.787G>T
c.2121G>T (p.Val707=)
c.1896G>T (p.Val632=)
c.1728G>T (p.Val576=)
c.2064G>T (p.Val688=)
c.2067G>T (p.Val689=)
c.1791G>T (p.Val597=)
c.1953G>T (p.Val651=)
c.2049G>T (p.Val683=)
n.468G>T
c.2010G>T (p.Val670=)
c.1842G>T (p.Val614=)
21g.25891812C>GCA511686018APPn.2088G>C
n.518G>C
n.787G>C
c.2121G>C (p.Val707=)
c.1896G>C (p.Val632=)
c.1728G>C (p.Val576=)
c.2064G>C (p.Val688=)
c.2067G>C (p.Val689=)
c.1791G>C (p.Val597=)
c.1953G>C (p.Val651=)
c.2049G>C (p.Val683=)
n.468G>C
c.2010G>C (p.Val670=)
c.1842G>C (p.Val614=)
21g.25891812C>TCA511686016APPn.2088G>A
n.518G>A
n.787G>A
c.2121G>A (p.Val707=)
c.1896G>A (p.Val632=)
c.1728G>A (p.Val576=)
c.2064G>A (p.Val688=)
c.2067G>A (p.Val689=)
c.1791G>A (p.Val597=)
c.1953G>A (p.Val651=)
c.2049G>A (p.Val683=)
n.468G>A
c.2010G>A (p.Val670=)
c.1842G>A (p.Val614=)
gnomAD v4
21g.25891813A>CCA409805596APPn.2087T>G
n.517T>G
n.786T>G
c.2120T>G (p.Val707Gly)
c.1895T>G (p.Val632Gly)
c.1727T>G (p.Val576Gly)
c.2063T>G (p.Val688Gly)
c.2066T>G (p.Val689Gly)
c.1790T>G (p.Val597Gly)
c.1952T>G (p.Val651Gly)
c.2048T>G (p.Val683Gly)
n.467T>G
c.2009T>G (p.Val670Gly)
c.1841T>G (p.Val614Gly)
21g.25891813A>GCA409805597APPn.2087T>C
n.517T>C
n.786T>C
c.2120T>C (p.Val707Ala)
c.1895T>C (p.Val632Ala)
c.1727T>C (p.Val576Ala)
c.2063T>C (p.Val688Ala)
c.2066T>C (p.Val689Ala)
c.1790T>C (p.Val597Ala)
c.1952T>C (p.Val651Ala)
c.2048T>C (p.Val683Ala)
n.467T>C
c.2009T>C (p.Val670Ala)
c.1841T>C (p.Val614Ala)
21g.25891813A>TCA409805598APPn.2087T>A
n.517T>A
n.786T>A
c.2120T>A (p.Val707Glu)
c.1895T>A (p.Val632Glu)
c.1727T>A (p.Val576Glu)
c.2063T>A (p.Val688Glu)
c.2066T>A (p.Val689Glu)
c.1790T>A (p.Val597Glu)
c.1952T>A (p.Val651Glu)
c.2048T>A (p.Val683Glu)
n.467T>A
c.2009T>A (p.Val670Glu)
c.1841T>A (p.Val614Glu)
21g.25891814C>ACA409805599APPn.2086G>T
n.516G>T
n.785G>T
c.2119G>T (p.Val707Leu)
c.1894G>T (p.Val632Leu)
c.1726G>T (p.Val576Leu)
c.2062G>T (p.Val688Leu)
c.2065G>T (p.Val689Leu)
c.1789G>T (p.Val597Leu)
c.1951G>T (p.Val651Leu)
c.2047G>T (p.Val683Leu)
n.466G>T
c.2008G>T (p.Val670Leu)
c.1840G>T (p.Val614Leu)
21g.25891814C=CA2383551630APPn.2086G=
n.516G=
n.785G=
c.2119G= (p.Val707=)
c.1894G= (p.Val632=)
c.1726G= (p.Val576=)
c.2062G= (p.Val688=)
c.2065G= (p.Val689=)
c.1789G= (p.Val597=)
c.1951G= (p.Val651=)
c.2047G= (p.Val683=)
n.466G=
c.2008G= (p.Val670=)
c.1840G= (p.Val614=)
21g.25891814C>GCA409805600APPn.2086G>C
n.516G>C
n.785G>C
c.2119G>C (p.Val707Leu)
c.1894G>C (p.Val632Leu)
c.1726G>C (p.Val576Leu)
c.2062G>C (p.Val688Leu)
c.2065G>C (p.Val689Leu)
c.1789G>C (p.Val597Leu)
c.1951G>C (p.Val651Leu)
c.2047G>C (p.Val683Leu)
n.466G>C
c.2008G>C (p.Val670Leu)
c.1840G>C (p.Val614Leu)
21g.25891814C>TCA9987058APPn.2086G>A
n.516G>A
n.785G>A
c.2119G>A (p.Val707Met)
c.1894G>A (p.Val632Met)
c.1726G>A (p.Val576Met)
c.2062G>A (p.Val688Met)
c.2065G>A (p.Val689Met)
c.1789G>A (p.Val597Met)
c.1951G>A (p.Val651Met)
c.2047G>A (p.Val683Met)
n.466G>A
c.2008G>A (p.Val670Met)
c.1840G>A (p.Val614Met)
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched