Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.25891732C>ACA409805431APPn.2168G>T
n.598G>T
n.867G>T
c.2201G>T (p.Gly734Val)
c.1976G>T (p.Gly659Val)
c.1808G>T (p.Gly603Val)
c.2144G>T (p.Gly715Val)
c.2147G>T (p.Gly716Val)
c.1871G>T (p.Gly624Val)
c.2033G>T (p.Gly678Val)
c.2129G>T (p.Gly710Val)
n.548G>T
c.2090G>T (p.Gly697Val)
c.1922G>T (p.Gly641Val)
21g.25891732C=CA2383551596APPn.2168G=
n.598G=
n.867G=
c.2201G= (p.Gly734=)
c.1976G= (p.Gly659=)
c.1808G= (p.Gly603=)
c.2144G= (p.Gly715=)
c.2147G= (p.Gly716=)
c.1871G= (p.Gly624=)
c.2033G= (p.Gly678=)
c.2129G= (p.Gly710=)
n.548G=
c.2090G= (p.Gly697=)
c.1922G= (p.Gly641=)
21g.25891732C>GCA409805433APPn.2168G>C
n.598G>C
n.867G>C
c.2201G>C (p.Gly734Ala)
c.1976G>C (p.Gly659Ala)
c.1808G>C (p.Gly603Ala)
c.2144G>C (p.Gly715Ala)
c.2147G>C (p.Gly716Ala)
c.1871G>C (p.Gly624Ala)
c.2033G>C (p.Gly678Ala)
c.2129G>C (p.Gly710Ala)
n.548G>C
c.2090G>C (p.Gly697Ala)
c.1922G>C (p.Gly641Ala)
21g.25891732C>TCA409805432APPn.2168G>A
n.598G>A
n.867G>A
c.2201G>A (p.Gly734Asp)
c.1976G>A (p.Gly659Asp)
c.1808G>A (p.Gly603Asp)
c.2144G>A (p.Gly715Asp)
c.2147G>A (p.Gly716Asp)
c.1871G>A (p.Gly624Asp)
c.2033G>A (p.Gly678Asp)
c.2129G>A (p.Gly710Asp)
n.548G>A
c.2090G>A (p.Gly697Asp)
c.1922G>A (p.Gly641Asp)
21g.25891733C>ACA409805434APPn.2167G>T
n.597G>T
n.866G>T
c.2200G>T (p.Gly734Cys)
c.1975G>T (p.Gly659Cys)
c.1807G>T (p.Gly603Cys)
c.2143G>T (p.Gly715Cys)
c.2146G>T (p.Gly716Cys)
c.1870G>T (p.Gly624Cys)
c.2032G>T (p.Gly678Cys)
c.2128G>T (p.Gly710Cys)
n.547G>T
c.2089G>T (p.Gly697Cys)
c.1921G>T (p.Gly641Cys)
21g.25891733C>GCA409805435APPn.2167G>C
n.597G>C
n.866G>C
c.2200G>C (p.Gly734Arg)
c.1975G>C (p.Gly659Arg)
c.1807G>C (p.Gly603Arg)
c.2143G>C (p.Gly715Arg)
c.2146G>C (p.Gly716Arg)
c.1870G>C (p.Gly624Arg)
c.2032G>C (p.Gly678Arg)
c.2128G>C (p.Gly710Arg)
n.547G>C
c.2089G>C (p.Gly697Arg)
c.1921G>C (p.Gly641Arg)
21g.25891733C>TCA409805436APPn.2167G>A
n.597G>A
n.866G>A
c.2200G>A (p.Gly734Ser)
c.1975G>A (p.Gly659Ser)
c.1807G>A (p.Gly603Ser)
c.2143G>A (p.Gly715Ser)
c.2146G>A (p.Gly716Ser)
c.1870G>A (p.Gly624Ser)
c.2032G>A (p.Gly678Ser)
c.2128G>A (p.Gly710Ser)
n.547G>A
c.2089G>A (p.Gly697Ser)
c.1921G>A (p.Gly641Ser)
21g.25891733_25891734dupCA2383551597APPn.2166_2167dup
n.596_597dup
n.865_866dup
c.2199_2200dup (p.Gly734ValfsTer?)
c.1974_1975dup (p.Gly659ValfsTer?)
c.1806_1807dup (p.Gly603ValfsTer?)
c.2142_2143dup (p.Gly715ValfsTer?)
c.2145_2146dup (p.Gly716ValfsTer?)
c.1869_1870dup (p.Gly624ValfsTer?)
c.2031_2032dup (p.Gly678ValfsTer?)
c.2127_2128dup (p.Gly710ValfsTer?)
n.546_547dup
c.2088_2089dup (p.Gly697ValfsTer?)
c.1920_1921dup (p.Gly641ValfsTer?)
 dbSNP
21g.25891734A=CA2383551598APPn.2166T=
n.596T=
n.865T=
c.2199T= (p.His733=)
c.1974T= (p.His658=)
c.1806T= (p.His602=)
c.2142T= (p.His714=)
c.2145T= (p.His715=)
c.1869T= (p.His623=)
c.2031T= (p.His677=)
c.2127T= (p.His709=)
n.546T=
c.2088T= (p.His696=)
c.1920T= (p.His640=)
21g.25891734A>CCA409805437APPn.2166T>G
n.596T>G
n.865T>G
c.2199T>G (p.His733Gln)
c.1974T>G (p.His658Gln)
c.1806T>G (p.His602Gln)
c.2142T>G (p.His714Gln)
c.2145T>G (p.His715Gln)
c.1869T>G (p.His623Gln)
c.2031T>G (p.His677Gln)
c.2127T>G (p.His709Gln)
n.546T>G
c.2088T>G (p.His696Gln)
c.1920T>G (p.His640Gln)
21g.25891734A>GCA511685962APPn.2166T>C
n.596T>C
n.865T>C
c.2199T>C (p.His733=)
c.1974T>C (p.His658=)
c.1806T>C (p.His602=)
c.2142T>C (p.His714=)
c.2145T>C (p.His715=)
c.1869T>C (p.His623=)
c.2031T>C (p.His677=)
c.2127T>C (p.His709=)
n.546T>C
c.2088T>C (p.His696=)
c.1920T>C (p.His640=)
 dbSNP gnomAD v4
21g.25891734A>TCA409805438APPn.2166T>A
n.596T>A
n.865T>A
c.2199T>A (p.His733Gln)
c.1974T>A (p.His658Gln)
c.1806T>A (p.His602Gln)
c.2142T>A (p.His714Gln)
c.2145T>A (p.His715Gln)
c.1869T>A (p.His623Gln)
c.2031T>A (p.His677Gln)
c.2127T>A (p.His709Gln)
n.546T>A
c.2088T>A (p.His696Gln)
c.1920T>A (p.His640Gln)
21g.25891735T>ACA409805440APPn.2165A>T
n.595A>T
n.864A>T
c.2198A>T (p.His733Leu)
c.1973A>T (p.His658Leu)
c.1805A>T (p.His602Leu)
c.2141A>T (p.His714Leu)
c.2144A>T (p.His715Leu)
c.1868A>T (p.His623Leu)
c.2030A>T (p.His677Leu)
c.2126A>T (p.His709Leu)
n.545A>T
c.2087A>T (p.His696Leu)
c.1919A>T (p.His640Leu)
21g.25891735T>CCA409805441APPn.2165A>G
n.595A>G
n.864A>G
c.2198A>G (p.His733Arg)
c.1973A>G (p.His658Arg)
c.1805A>G (p.His602Arg)
c.2141A>G (p.His714Arg)
c.2144A>G (p.His715Arg)
c.1868A>G (p.His623Arg)
c.2030A>G (p.His677Arg)
c.2126A>G (p.His709Arg)
n.545A>G
c.2087A>G (p.His696Arg)
c.1919A>G (p.His640Arg)
21g.25891735T>GCA409805439APPn.2165A>C
n.595A>C
n.864A>C
c.2198A>C (p.His733Pro)
c.1973A>C (p.His658Pro)
c.1805A>C (p.His602Pro)
c.2141A>C (p.His714Pro)
c.2144A>C (p.His715Pro)
c.1868A>C (p.His623Pro)
c.2030A>C (p.His677Pro)
c.2126A>C (p.His709Pro)
n.545A>C
c.2087A>C (p.His696Pro)
c.1919A>C (p.His640Pro)
 dbSNP gnomAD v3 gnomAD v4
21g.25891735T=CA2383551599APPn.2165A=
n.595A=
n.864A=
c.2198A= (p.His733=)
c.1973A= (p.His658=)
c.1805A= (p.His602=)
c.2141A= (p.His714=)
c.2144A= (p.His715=)
c.1868A= (p.His623=)
c.2030A= (p.His677=)
c.2126A= (p.His709=)
n.545A=
c.2087A= (p.His696=)
c.1919A= (p.His640=)
21g.25891736G>ACA409805443APPn.2164C>T
n.594C>T
n.863C>T
c.2197C>T (p.His733Tyr)
c.1972C>T (p.His658Tyr)
c.1804C>T (p.His602Tyr)
c.2140C>T (p.His714Tyr)
c.2143C>T (p.His715Tyr)
c.1867C>T (p.His623Tyr)
c.2029C>T (p.His677Tyr)
c.2125C>T (p.His709Tyr)
n.544C>T
c.2086C>T (p.His696Tyr)
c.1918C>T (p.His640Tyr)
21g.25891736G>CCA409805442APPn.2164C>G
n.594C>G
n.863C>G
c.2197C>G (p.His733Asp)
c.1972C>G (p.His658Asp)
c.1804C>G (p.His602Asp)
c.2140C>G (p.His714Asp)
c.2143C>G (p.His715Asp)
c.1867C>G (p.His623Asp)
c.2029C>G (p.His677Asp)
c.2125C>G (p.His709Asp)
n.544C>G
c.2086C>G (p.His696Asp)
c.1918C>G (p.His640Asp)
21g.25891736G>TCA409805444APPn.2164C>A
n.594C>A
n.863C>A
c.2197C>A (p.His733Asn)
c.1972C>A (p.His658Asn)
c.1804C>A (p.His602Asn)
c.2140C>A (p.His714Asn)
c.2143C>A (p.His715Asn)
c.1867C>A (p.His623Asn)
c.2029C>A (p.His677Asn)
c.2125C>A (p.His709Asn)
n.544C>A
c.2086C>A (p.His696Asn)
c.1918C>A (p.His640Asn)
21g.25891737A=CA2383551600APPn.2163T=
n.593T=
n.862T=
c.2196T= (p.His732=)
c.1971T= (p.His657=)
c.1803T= (p.His601=)
c.2139T= (p.His713=)
c.2142T= (p.His714=)
c.1866T= (p.His622=)
c.2028T= (p.His676=)
c.2124T= (p.His708=)
n.543T=
c.2085T= (p.His695=)
c.1917T= (p.His639=)
21g.25891737A>CCA409805445APPn.2163T>G
n.593T>G
n.862T>G
c.2196T>G (p.His732Gln)
c.1971T>G (p.His657Gln)
c.1803T>G (p.His601Gln)
c.2139T>G (p.His713Gln)
c.2142T>G (p.His714Gln)
c.1866T>G (p.His622Gln)
c.2028T>G (p.His676Gln)
c.2124T>G (p.His708Gln)
n.543T>G
c.2085T>G (p.His695Gln)
c.1917T>G (p.His639Gln)
21g.25891737A>GCA511685965APPn.2163T>C
n.593T>C
n.862T>C
c.2196T>C (p.His732=)
c.1971T>C (p.His657=)
c.1803T>C (p.His601=)
c.2139T>C (p.His713=)
c.2142T>C (p.His714=)
c.1866T>C (p.His622=)
c.2028T>C (p.His676=)
c.2124T>C (p.His708=)
n.543T>C
c.2085T>C (p.His695=)
c.1917T>C (p.His639=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.25891737A>TCA409805446APPn.2163T>A
n.593T>A
n.862T>A
c.2196T>A (p.His732Gln)
c.1971T>A (p.His657Gln)
c.1803T>A (p.His601Gln)
c.2139T>A (p.His713Gln)
c.2142T>A (p.His714Gln)
c.1866T>A (p.His622Gln)
c.2028T>A (p.His676Gln)
c.2124T>A (p.His708Gln)
n.543T>A
c.2085T>A (p.His695Gln)
c.1917T>A (p.His639Gln)
21g.25891738T>ACA409805447APPn.2162A>T
n.592A>T
n.861A>T
c.2195A>T (p.His732Leu)
c.1970A>T (p.His657Leu)
c.1802A>T (p.His601Leu)
c.2138A>T (p.His713Leu)
c.2141A>T (p.His714Leu)
c.1865A>T (p.His622Leu)
c.2027A>T (p.His676Leu)
c.2123A>T (p.His708Leu)
n.542A>T
c.2084A>T (p.His695Leu)
c.1916A>T (p.His639Leu)
21g.25891738T>CCA409805448APPn.2162A>G
n.592A>G
n.861A>G
c.2195A>G (p.His732Arg)
c.1970A>G (p.His657Arg)
c.1802A>G (p.His601Arg)
c.2138A>G (p.His713Arg)
c.2141A>G (p.His714Arg)
c.1865A>G (p.His622Arg)
c.2027A>G (p.His676Arg)
c.2123A>G (p.His708Arg)
n.542A>G
c.2084A>G (p.His695Arg)
c.1916A>G (p.His639Arg)
 gnomAD v4
21g.25891738T>GCA409805449APPn.2162A>C
n.592A>C
n.861A>C
c.2195A>C (p.His732Pro)
c.1970A>C (p.His657Pro)
c.1802A>C (p.His601Pro)
c.2138A>C (p.His713Pro)
c.2141A>C (p.His714Pro)
c.1865A>C (p.His622Pro)
c.2027A>C (p.His676Pro)
c.2123A>C (p.His708Pro)
n.542A>C
c.2084A>C (p.His695Pro)
c.1916A>C (p.His639Pro)
21g.25891739G>ACA409805450APPn.2161C>T
n.591C>T
n.860C>T
c.2194C>T (p.His732Tyr)
c.1969C>T (p.His657Tyr)
c.1801C>T (p.His601Tyr)
c.2137C>T (p.His713Tyr)
c.2140C>T (p.His714Tyr)
c.1864C>T (p.His622Tyr)
c.2026C>T (p.His676Tyr)
c.2122C>T (p.His708Tyr)
n.541C>T
c.2083C>T (p.His695Tyr)
c.1915C>T (p.His639Tyr)
21g.25891739G>CCA409805451APPn.2161C>G
n.591C>G
n.860C>G
c.2194C>G (p.His732Asp)
c.1969C>G (p.His657Asp)
c.1801C>G (p.His601Asp)
c.2137C>G (p.His713Asp)
c.2140C>G (p.His714Asp)
c.1864C>G (p.His622Asp)
c.2026C>G (p.His676Asp)
c.2122C>G (p.His708Asp)
n.541C>G
c.2083C>G (p.His695Asp)
c.1915C>G (p.His639Asp)
 gnomAD v4
21g.25891739G>TCA409805452APPn.2161C>A
n.591C>A
n.860C>A
c.2194C>A (p.His732Asn)
c.1969C>A (p.His657Asn)
c.1801C>A (p.His601Asn)
c.2137C>A (p.His713Asn)
c.2140C>A (p.His714Asn)
c.1864C>A (p.His622Asn)
c.2026C>A (p.His676Asn)
c.2122C>A (p.His708Asn)
n.541C>A
c.2083C>A (p.His695Asn)
c.1915C>A (p.His639Asn)
21g.25891740A>CCA409805453APPn.2160T>G
n.590T>G
n.859T>G
c.2193T>G (p.Ile731Met)
c.1968T>G (p.Ile656Met)
c.1800T>G (p.Ile600Met)
c.2136T>G (p.Ile712Met)
c.2139T>G (p.Ile713Met)
c.1863T>G (p.Ile621Met)
c.2025T>G (p.Ile675Met)
c.2121T>G (p.Ile707Met)
n.540T>G
c.2082T>G (p.Ile694Met)
c.1914T>G (p.Ile638Met)
21g.25891740A>GCA511685966APPn.2160T>C
n.590T>C
n.859T>C
c.2193T>C (p.Ile731=)
c.1968T>C (p.Ile656=)
c.1800T>C (p.Ile600=)
c.2136T>C (p.Ile712=)
c.2139T>C (p.Ile713=)
c.1863T>C (p.Ile621=)
c.2025T>C (p.Ile675=)
c.2121T>C (p.Ile707=)
n.540T>C
c.2082T>C (p.Ile694=)
c.1914T>C (p.Ile638=)
21g.25891740A>TCA511685967APPn.2160T>A
n.590T>A
n.859T>A
c.2193T>A (p.Ile731=)
c.1968T>A (p.Ile656=)
c.1800T>A (p.Ile600=)
c.2136T>A (p.Ile712=)
c.2139T>A (p.Ile713=)
c.1863T>A (p.Ile621=)
c.2025T>A (p.Ile675=)
c.2121T>A (p.Ile707=)
n.540T>A
c.2082T>A (p.Ile694=)
c.1914T>A (p.Ile638=)
21g.25891741A>CCA409805456APPn.2159T>G
n.589T>G
n.858T>G
c.2192T>G (p.Ile731Ser)
c.1967T>G (p.Ile656Ser)
c.1799T>G (p.Ile600Ser)
c.2135T>G (p.Ile712Ser)
c.2138T>G (p.Ile713Ser)
c.1862T>G (p.Ile621Ser)
c.2024T>G (p.Ile675Ser)
c.2120T>G (p.Ile707Ser)
n.539T>G
c.2081T>G (p.Ile694Ser)
c.1913T>G (p.Ile638Ser)
21g.25891741A>GCA409805454APPn.2159T>C
n.589T>C
n.858T>C
c.2192T>C (p.Ile731Thr)
c.1967T>C (p.Ile656Thr)
c.1799T>C (p.Ile600Thr)
c.2135T>C (p.Ile712Thr)
c.2138T>C (p.Ile713Thr)
c.1862T>C (p.Ile621Thr)
c.2024T>C (p.Ile675Thr)
c.2120T>C (p.Ile707Thr)
n.539T>C
c.2081T>C (p.Ile694Thr)
c.1913T>C (p.Ile638Thr)
21g.25891741A>TCA409805455APPn.2159T>A
n.589T>A
n.858T>A
c.2192T>A (p.Ile731Asn)
c.1967T>A (p.Ile656Asn)
c.1799T>A (p.Ile600Asn)
c.2135T>A (p.Ile712Asn)
c.2138T>A (p.Ile713Asn)
c.1862T>A (p.Ile621Asn)
c.2024T>A (p.Ile675Asn)
c.2120T>A (p.Ile707Asn)
n.539T>A
c.2081T>A (p.Ile694Asn)
c.1913T>A (p.Ile638Asn)
21g.25891742T>ACA409805457APPn.2158A>T
n.588A>T
n.857A>T
c.2191A>T (p.Ile731Phe)
c.1966A>T (p.Ile656Phe)
c.1798A>T (p.Ile600Phe)
c.2134A>T (p.Ile712Phe)
c.2137A>T (p.Ile713Phe)
c.1861A>T (p.Ile621Phe)
c.2023A>T (p.Ile675Phe)
c.2119A>T (p.Ile707Phe)
n.538A>T
c.2080A>T (p.Ile694Phe)
c.1912A>T (p.Ile638Phe)
21g.25891742T>CCA409805458APPn.2158A>G
n.588A>G
n.857A>G
c.2191A>G (p.Ile731Val)
c.1966A>G (p.Ile656Val)
c.1798A>G (p.Ile600Val)
c.2134A>G (p.Ile712Val)
c.2137A>G (p.Ile713Val)
c.1861A>G (p.Ile621Val)
c.2023A>G (p.Ile675Val)
c.2119A>G (p.Ile707Val)
n.538A>G
c.2080A>G (p.Ile694Val)
c.1912A>G (p.Ile638Val)
21g.25891742T>GCA409805459APPn.2158A>C
n.588A>C
n.857A>C
c.2191A>C (p.Ile731Leu)
c.1966A>C (p.Ile656Leu)
c.1798A>C (p.Ile600Leu)
c.2134A>C (p.Ile712Leu)
c.2137A>C (p.Ile713Leu)
c.1861A>C (p.Ile621Leu)
c.2023A>C (p.Ile675Leu)
c.2119A>C (p.Ile707Leu)
n.538A>C
c.2080A>C (p.Ile694Leu)
c.1912A>C (p.Ile638Leu)
 gnomAD v4
21g.25891743G>ACA9987048APPn.2157C>T
n.587C>T
n.856C>T
c.2190C>T (p.Ser730=)
c.1965C>T (p.Ser655=)
c.1797C>T (p.Ser599=)
c.2133C>T (p.Ser711=)
c.2136C>T (p.Ser712=)
c.1860C>T (p.Ser620=)
c.2022C>T (p.Ser674=)
c.2118C>T (p.Ser706=)
n.537C>T
c.2079C>T (p.Ser693=)
c.1911C>T (p.Ser637=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.25891743G>CCA319097554APPn.2157C>G
n.587C>G
n.856C>G
c.2190C>G (p.Ser730=)
c.1965C>G (p.Ser655=)
c.1797C>G (p.Ser599=)
c.2133C>G (p.Ser711=)
c.2136C>G (p.Ser712=)
c.1860C>G (p.Ser620=)
c.2022C>G (p.Ser674=)
c.2118C>G (p.Ser706=)
n.537C>G
c.2079C>G (p.Ser693=)
c.1911C>G (p.Ser637=)
 dbSNP
21g.25891743G=CA2383551601APPn.2157C=
n.587C=
n.856C=
c.2190C= (p.Ser730=)
c.1965C= (p.Ser655=)
c.1797C= (p.Ser599=)
c.2133C= (p.Ser711=)
c.2136C= (p.Ser712=)
c.1860C= (p.Ser620=)
c.2022C= (p.Ser674=)
c.2118C= (p.Ser706=)
n.537C=
c.2079C= (p.Ser693=)
c.1911C= (p.Ser637=)
21g.25891743G>TCA511685968APPn.2157C>A
n.587C>A
n.856C>A
c.2190C>A (p.Ser730=)
c.1965C>A (p.Ser655=)
c.1797C>A (p.Ser599=)
c.2133C>A (p.Ser711=)
c.2136C>A (p.Ser712=)
c.1860C>A (p.Ser620=)
c.2022C>A (p.Ser674=)
c.2118C>A (p.Ser706=)
n.537C>A
c.2079C>A (p.Ser693=)
c.1911C>A (p.Ser637=)
21g.25891744G>ACA409805460APPn.2156C>T
n.586C>T
n.855C>T
c.2189C>T (p.Ser730Phe)
c.1964C>T (p.Ser655Phe)
c.1796C>T (p.Ser599Phe)
c.2132C>T (p.Ser711Phe)
c.2135C>T (p.Ser712Phe)
c.1859C>T (p.Ser620Phe)
c.2021C>T (p.Ser674Phe)
c.2117C>T (p.Ser706Phe)
n.536C>T
c.2078C>T (p.Ser693Phe)
c.1910C>T (p.Ser637Phe)
21g.25891744G>CCA409805462APPn.2156C>G
n.586C>G
n.855C>G
c.2189C>G (p.Ser730Cys)
c.1964C>G (p.Ser655Cys)
c.1796C>G (p.Ser599Cys)
c.2132C>G (p.Ser711Cys)
c.2135C>G (p.Ser712Cys)
c.1859C>G (p.Ser620Cys)
c.2021C>G (p.Ser674Cys)
c.2117C>G (p.Ser706Cys)
n.536C>G
c.2078C>G (p.Ser693Cys)
c.1910C>G (p.Ser637Cys)
21g.25891744G>TCA409805461APPn.2156C>A
n.586C>A
n.855C>A
c.2189C>A (p.Ser730Tyr)
c.1964C>A (p.Ser655Tyr)
c.1796C>A (p.Ser599Tyr)
c.2132C>A (p.Ser711Tyr)
c.2135C>A (p.Ser712Tyr)
c.1859C>A (p.Ser620Tyr)
c.2021C>A (p.Ser674Tyr)
c.2117C>A (p.Ser706Tyr)
n.536C>A
c.2078C>A (p.Ser693Tyr)
c.1910C>A (p.Ser637Tyr)
 gnomAD v4
21g.25891745A>CCA409805463APPn.2155T>G
n.585T>G
n.854T>G
c.2188T>G (p.Ser730Ala)
c.1963T>G (p.Ser655Ala)
c.1795T>G (p.Ser599Ala)
c.2131T>G (p.Ser711Ala)
c.2134T>G (p.Ser712Ala)
c.1858T>G (p.Ser620Ala)
c.2020T>G (p.Ser674Ala)
c.2116T>G (p.Ser706Ala)
n.535T>G
c.2077T>G (p.Ser693Ala)
c.1909T>G (p.Ser637Ala)
21g.25891745A>GCA409805464APPn.2155T>C
n.585T>C
n.854T>C
c.2188T>C (p.Ser730Pro)
c.1963T>C (p.Ser655Pro)
c.1795T>C (p.Ser599Pro)
c.2131T>C (p.Ser711Pro)
c.2134T>C (p.Ser712Pro)
c.1858T>C (p.Ser620Pro)
c.2020T>C (p.Ser674Pro)
c.2116T>C (p.Ser706Pro)
n.535T>C
c.2077T>C (p.Ser693Pro)
c.1909T>C (p.Ser637Pro)
21g.25891745A>TCA409805465APPn.2155T>A
n.585T>A
n.854T>A
c.2188T>A (p.Ser730Thr)
c.1963T>A (p.Ser655Thr)
c.1795T>A (p.Ser599Thr)
c.2131T>A (p.Ser711Thr)
c.2134T>A (p.Ser712Thr)
c.1858T>A (p.Ser620Thr)
c.2020T>A (p.Ser674Thr)
c.2116T>A (p.Ser706Thr)
n.535T>A
c.2077T>A (p.Ser693Thr)
c.1909T>A (p.Ser637Thr)
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
21g.25891761C>TCA511685976APPn.2139G>A
n.569G>A
n.838G>A
c.2172G>A (p.Lys724=)
c.1947G>A (p.Lys649=)
c.1779G>A (p.Lys593=)
c.2115G>A (p.Lys705=)
c.2118G>A (p.Lys706=)
c.1842G>A (p.Lys614=)
c.2004G>A (p.Lys668=)
c.2100G>A (p.Lys700=)
n.519G>A
c.2061G>A (p.Lys687=)
c.1893G>A (p.Lys631=)
 dbSNP
21g.25891762T>ACA409805505APPn.2138A>T
n.568A>T
n.837A>T
c.2171A>T (p.Lys724Met)
c.1946A>T (p.Lys649Met)
c.1778A>T (p.Lys593Met)
c.2114A>T (p.Lys705Met)
c.2117A>T (p.Lys706Met)
c.1841A>T (p.Lys614Met)
c.2003A>T (p.Lys668Met)
c.2099A>T (p.Lys700Met)
n.518A>T
c.2060A>T (p.Lys687Met)
c.1892A>T (p.Lys631Met)
21g.25891762T>CCA409805507APPn.2138A>G
n.568A>G
n.837A>G
c.2171A>G (p.Lys724Arg)
c.1946A>G (p.Lys649Arg)
c.1778A>G (p.Lys593Arg)
c.2114A>G (p.Lys705Arg)
c.2117A>G (p.Lys706Arg)
c.1841A>G (p.Lys614Arg)
c.2003A>G (p.Lys668Arg)
c.2099A>G (p.Lys700Arg)
n.518A>G
c.2060A>G (p.Lys687Arg)
c.1892A>G (p.Lys631Arg)
21g.25891762T>GCA409805506APPn.2138A>C
n.568A>C
n.837A>C
c.2171A>C (p.Lys724Thr)
c.1946A>C (p.Lys649Thr)
c.1778A>C (p.Lys593Thr)
c.2114A>C (p.Lys705Thr)
c.2117A>C (p.Lys706Thr)
c.1841A>C (p.Lys614Thr)
c.2003A>C (p.Lys668Thr)
c.2099A>C (p.Lys700Thr)
n.518A>C
c.2060A>C (p.Lys687Thr)
c.1892A>C (p.Lys631Thr)
21g.25891763T>ACA409805508APPn.2137A>T
n.567A>T
n.836A>T
c.2170A>T (p.Lys724Ter)
c.1945A>T (p.Lys649Ter)
c.1777A>T (p.Lys593Ter)
c.2113A>T (p.Lys705Ter)
c.2116A>T (p.Lys706Ter)
c.1840A>T (p.Lys614Ter)
c.2002A>T (p.Lys668Ter)
c.2098A>T (p.Lys700Ter)
n.517A>T
c.2059A>T (p.Lys687Ter)
c.1891A>T (p.Lys631Ter)
21g.25891763T>CCA409805509APPn.2137A>G
n.567A>G
n.836A>G
c.2170A>G (p.Lys724Glu)
c.1945A>G (p.Lys649Glu)
c.1777A>G (p.Lys593Glu)
c.2113A>G (p.Lys705Glu)
c.2116A>G (p.Lys706Glu)
c.1840A>G (p.Lys614Glu)
c.2002A>G (p.Lys668Glu)
c.2098A>G (p.Lys700Glu)
n.517A>G
c.2059A>G (p.Lys687Glu)
c.1891A>G (p.Lys631Glu)
21g.25891763T>GCA409805510APPn.2137A>C
n.567A>C
n.836A>C
c.2170A>C (p.Lys724Gln)
c.1945A>C (p.Lys649Gln)
c.1777A>C (p.Lys593Gln)
c.2113A>C (p.Lys705Gln)
c.2116A>C (p.Lys706Gln)
c.1840A>C (p.Lys614Gln)
c.2002A>C (p.Lys668Gln)
c.2098A>C (p.Lys700Gln)
n.517A>C
c.2059A>C (p.Lys687Gln)
c.1891A>C (p.Lys631Gln)
21g.25891764C>ACA511685977APPn.2136G>T
n.566G>T
n.835G>T
c.2169G>T (p.Leu723=)
c.1944G>T (p.Leu648=)
c.1776G>T (p.Leu592=)
c.2112G>T (p.Leu704=)
c.2115G>T (p.Leu705=)
c.1839G>T (p.Leu613=)
c.2001G>T (p.Leu667=)
c.2097G>T (p.Leu699=)
n.516G>T
c.2058G>T (p.Leu686=)
c.1890G>T (p.Leu630=)
21g.25891764C>GCA511685978APPn.2136G>C
n.566G>C
n.835G>C
c.2169G>C (p.Leu723=)
c.1944G>C (p.Leu648=)
c.1776G>C (p.Leu592=)
c.2112G>C (p.Leu704=)
c.2115G>C (p.Leu705=)
c.1839G>C (p.Leu613=)
c.2001G>C (p.Leu667=)
c.2097G>C (p.Leu699=)
n.516G>C
c.2058G>C (p.Leu686=)
c.1890G>C (p.Leu630=)
 gnomAD v4
21g.25891764C>TCA511685979APPn.2136G>A
n.566G>A
n.835G>A
c.2169G>A (p.Leu723=)
c.1944G>A (p.Leu648=)
c.1776G>A (p.Leu592=)
c.2112G>A (p.Leu704=)
c.2115G>A (p.Leu705=)
c.1839G>A (p.Leu613=)
c.2001G>A (p.Leu667=)
c.2097G>A (p.Leu699=)
n.516G>A
c.2058G>A (p.Leu686=)
c.1890G>A (p.Leu630=)
 gnomAD v4
21g.25891766_25891768delCA2654122406APPn.2134_2136del
n.564_566del
n.833_835del
c.2167_2169del (p.Leu723del)
c.1942_1944del (p.Leu648del)
c.1774_1776del (p.Leu592del)
c.2110_2112del (p.Leu704del)
c.2113_2115del (p.Leu705del)
c.1837_1839del (p.Leu613del)
c.1999_2001del (p.Leu667del)
c.2095_2097del (p.Leu699del)
n.514_516del
c.2056_2058del (p.Leu686del)
c.1888_1890del (p.Leu630del)
 gnomAD v4
21g.25891765A=CA2383551605APPn.2135T=
n.565T=
n.834T=
c.2168T= (p.Leu723=)
c.1943T= (p.Leu648=)
c.1775T= (p.Leu592=)
c.2111T= (p.Leu704=)
c.2114T= (p.Leu705=)
c.1838T= (p.Leu613=)
c.2000T= (p.Leu667=)
c.2096T= (p.Leu699=)
n.515T=
c.2057T= (p.Leu686=)
c.1889T= (p.Leu630=)
21g.25891765A>CCA409805511APPn.2135T>G
n.565T>G
n.834T>G
c.2168T>G (p.Leu723Arg)
c.1943T>G (p.Leu648Arg)
c.1775T>G (p.Leu592Arg)
c.2111T>G (p.Leu704Arg)
c.2114T>G (p.Leu705Arg)
c.1838T>G (p.Leu613Arg)
c.2000T>G (p.Leu667Arg)
c.2096T>G (p.Leu699Arg)
n.515T>G
c.2057T>G (p.Leu686Arg)
c.1889T>G (p.Leu630Arg)
21g.25891765A>GCA225513APPn.2135T>C
n.565T>C
n.834T>C
c.2168T>C (p.Leu723Pro)
c.1943T>C (p.Leu648Pro)
c.1775T>C (p.Leu592Pro)
c.2111T>C (p.Leu704Pro)
c.2114T>C (p.Leu705Pro)
c.1838T>C (p.Leu613Pro)
c.2000T>C (p.Leu667Pro)
c.2096T>C (p.Leu699Pro)
n.515T>C
c.2057T>C (p.Leu686Pro)
c.1889T>C (p.Leu630Pro)
 ClinVar dbSNP gnomAD v4
21g.25891765A>TCA409805512APPn.2135T>A
n.565T>A
n.834T>A
c.2168T>A (p.Leu723Gln)
c.1943T>A (p.Leu648Gln)
c.1775T>A (p.Leu592Gln)
c.2111T>A (p.Leu704Gln)
c.2114T>A (p.Leu705Gln)
c.1838T>A (p.Leu613Gln)
c.2000T>A (p.Leu667Gln)
c.2096T>A (p.Leu699Gln)
n.515T>A
c.2057T>A (p.Leu686Gln)
c.1889T>A (p.Leu630Gln)
21g.25891766G>ACA511685980APPn.2134C>T
n.564C>T
n.833C>T
c.2167C>T (p.Leu723=)
c.1942C>T (p.Leu648=)
c.1774C>T (p.Leu592=)
c.2110C>T (p.Leu704=)
c.2113C>T (p.Leu705=)
c.1837C>T (p.Leu613=)
c.1999C>T (p.Leu667=)
c.2095C>T (p.Leu699=)
n.514C>T
c.2056C>T (p.Leu686=)
c.1888C>T (p.Leu630=)
 gnomAD v4
21g.25891766G>CCA409805513APPn.2134C>G
n.564C>G
n.833C>G
c.2167C>G (p.Leu723Val)
c.1942C>G (p.Leu648Val)
c.1774C>G (p.Leu592Val)
c.2110C>G (p.Leu704Val)
c.2113C>G (p.Leu705Val)
c.1837C>G (p.Leu613Val)
c.1999C>G (p.Leu667Val)
c.2095C>G (p.Leu699Val)
n.514C>G
c.2056C>G (p.Leu686Val)
c.1888C>G (p.Leu630Val)
21g.25891766G>TCA409805514APPn.2134C>A
n.564C>A
n.833C>A
c.2167C>A (p.Leu723Met)
c.1942C>A (p.Leu648Met)
c.1774C>A (p.Leu592Met)
c.2110C>A (p.Leu704Met)
c.2113C>A (p.Leu705Met)
c.1837C>A (p.Leu613Met)
c.1999C>A (p.Leu667Met)
c.2095C>A (p.Leu699Met)
n.514C>A
c.2056C>A (p.Leu686Met)
c.1888C>A (p.Leu630Met)
21g.25891767C>ACA409805515APPn.2133G>T
n.563G>T
n.832G>T
c.2166G>T (p.Met722Ile)
c.1941G>T (p.Met647Ile)
c.1773G>T (p.Met591Ile)
c.2109G>T (p.Met703Ile)
c.2112G>T (p.Met704Ile)
c.1836G>T (p.Met612Ile)
c.1998G>T (p.Met666Ile)
c.2094G>T (p.Met698Ile)
n.513G>T
c.2055G>T (p.Met685Ile)
c.1887G>T (p.Met629Ile)
21g.25891767C>GCA409805516APPn.2133G>C
n.563G>C
n.832G>C
c.2166G>C (p.Met722Ile)
c.1941G>C (p.Met647Ile)
c.1773G>C (p.Met591Ile)
c.2109G>C (p.Met703Ile)
c.2112G>C (p.Met704Ile)
c.1836G>C (p.Met612Ile)
c.1998G>C (p.Met666Ile)
c.2094G>C (p.Met698Ile)
n.513G>C
c.2055G>C (p.Met685Ile)
c.1887G>C (p.Met629Ile)
21g.25891767C>TCA409805517APPn.2133G>A
n.563G>A
n.832G>A
c.2166G>A (p.Met722Ile)
c.1941G>A (p.Met647Ile)
c.1773G>A (p.Met591Ile)
c.2109G>A (p.Met703Ile)
c.2112G>A (p.Met704Ile)
c.1836G>A (p.Met612Ile)
c.1998G>A (p.Met666Ile)
c.2094G>A (p.Met698Ile)
n.513G>A
c.2055G>A (p.Met685Ile)
c.1887G>A (p.Met629Ile)
21g.25891768A>CCA409805520APPn.2132T>G
n.562T>G
n.831T>G
c.2165T>G (p.Met722Arg)
c.1940T>G (p.Met647Arg)
c.1772T>G (p.Met591Arg)
c.2108T>G (p.Met703Arg)
c.2111T>G (p.Met704Arg)
c.1835T>G (p.Met612Arg)
c.1997T>G (p.Met666Arg)
c.2093T>G (p.Met698Arg)
n.512T>G
c.2054T>G (p.Met685Arg)
c.1886T>G (p.Met629Arg)
 gnomAD v4
21g.25891768A>GCA409805518APPn.2132T>C
n.562T>C
n.831T>C
c.2165T>C (p.Met722Thr)
c.1940T>C (p.Met647Thr)
c.1772T>C (p.Met591Thr)
c.2108T>C (p.Met703Thr)
c.2111T>C (p.Met704Thr)
c.1835T>C (p.Met612Thr)
c.1997T>C (p.Met666Thr)
c.2093T>C (p.Met698Thr)
n.512T>C
c.2054T>C (p.Met685Thr)
c.1886T>C (p.Met629Thr)
21g.25891768A>TCA409805519APPn.2132T>A
n.562T>A
n.831T>A
c.2165T>A (p.Met722Lys)
c.1940T>A (p.Met647Lys)
c.1772T>A (p.Met591Lys)
c.2108T>A (p.Met703Lys)
c.2111T>A (p.Met704Lys)
c.1835T>A (p.Met612Lys)
c.1997T>A (p.Met666Lys)
c.2093T>A (p.Met698Lys)
n.512T>A
c.2054T>A (p.Met685Lys)
c.1886T>A (p.Met629Lys)
21g.25891769T>ACA409805521APPn.2131A>T
n.561A>T
n.830A>T
c.2164A>T (p.Met722Leu)
c.1939A>T (p.Met647Leu)
c.1771A>T (p.Met591Leu)
c.2107A>T (p.Met703Leu)
c.2110A>T (p.Met704Leu)
c.1834A>T (p.Met612Leu)
c.1996A>T (p.Met666Leu)
c.2092A>T (p.Met698Leu)
n.511A>T
c.2053A>T (p.Met685Leu)
c.1885A>T (p.Met629Leu)
21g.25891769T>CCA409805522APPn.2131A>G
n.561A>G
n.830A>G
c.2164A>G (p.Met722Val)
c.1939A>G (p.Met647Val)
c.1771A>G (p.Met591Val)
c.2107A>G (p.Met703Val)
c.2110A>G (p.Met704Val)
c.1834A>G (p.Met612Val)
c.1996A>G (p.Met666Val)
c.2092A>G (p.Met698Val)
n.511A>G
c.2053A>G (p.Met685Val)
c.1885A>G (p.Met629Val)
21g.25891769T>GCA409805523APPn.2131A>C
n.561A>C
n.830A>C
c.2164A>C (p.Met722Leu)
c.1939A>C (p.Met647Leu)
c.1771A>C (p.Met591Leu)
c.2107A>C (p.Met703Leu)
c.2110A>C (p.Met704Leu)
c.1834A>C (p.Met612Leu)
c.1996A>C (p.Met666Leu)
c.2092A>C (p.Met698Leu)
n.511A>C
c.2053A>C (p.Met685Leu)
c.1885A>C (p.Met629Leu)
21g.25891770C>ACA511685983APPn.2130G>T
n.560G>T
n.829G>T
c.2163G>T (p.Val721=)
c.1938G>T (p.Val646=)
c.1770G>T (p.Val590=)
c.2106G>T (p.Val702=)
c.2109G>T (p.Val703=)
c.1833G>T (p.Val611=)
c.1995G>T (p.Val665=)
c.2091G>T (p.Val697=)
n.510G>T
c.2052G>T (p.Val684=)
c.1884G>T (p.Val628=)
21g.25891770C>GCA511685982APPn.2130G>C
n.560G>C
n.829G>C
c.2163G>C (p.Val721=)
c.1938G>C (p.Val646=)
c.1770G>C (p.Val590=)
c.2106G>C (p.Val702=)
c.2109G>C (p.Val703=)
c.1833G>C (p.Val611=)
c.1995G>C (p.Val665=)
c.2091G>C (p.Val697=)
n.510G>C
c.2052G>C (p.Val684=)
c.1884G>C (p.Val628=)
21g.25891770C>TCA511685984APPn.2130G>A
n.560G>A
n.829G>A
c.2163G>A (p.Val721=)
c.1938G>A (p.Val646=)
c.1770G>A (p.Val590=)
c.2106G>A (p.Val702=)
c.2109G>A (p.Val703=)
c.1833G>A (p.Val611=)
c.1995G>A (p.Val665=)
c.2091G>A (p.Val697=)
n.510G>A
c.2052G>A (p.Val684=)
c.1884G>A (p.Val628=)
21g.25891771A>CCA409805524APPn.2129T>G
n.559T>G
n.828T>G
c.2162T>G (p.Val721Gly)
c.1937T>G (p.Val646Gly)
c.1769T>G (p.Val590Gly)
c.2105T>G (p.Val702Gly)
c.2108T>G (p.Val703Gly)
c.1832T>G (p.Val611Gly)
c.1994T>G (p.Val665Gly)
c.2090T>G (p.Val697Gly)
n.509T>G
c.2051T>G (p.Val684Gly)
c.1883T>G (p.Val628Gly)
21g.25891771A>GCA409805525APPn.2129T>C
n.559T>C
n.828T>C
c.2162T>C (p.Val721Ala)
c.1937T>C (p.Val646Ala)
c.1769T>C (p.Val590Ala)
c.2105T>C (p.Val702Ala)
c.2108T>C (p.Val703Ala)
c.1832T>C (p.Val611Ala)
c.1994T>C (p.Val665Ala)
c.2090T>C (p.Val697Ala)
n.509T>C
c.2051T>C (p.Val684Ala)
c.1883T>C (p.Val628Ala)
21g.25891771A>TCA409805526APPn.2129T>A
n.559T>A
n.828T>A
c.2162T>A (p.Val721Glu)
c.1937T>A (p.Val646Glu)
c.1769T>A (p.Val590Glu)
c.2105T>A (p.Val702Glu)
c.2108T>A (p.Val703Glu)
c.1832T>A (p.Val611Glu)
c.1994T>A (p.Val665Glu)
c.2090T>A (p.Val697Glu)
n.509T>A
c.2051T>A (p.Val684Glu)
c.1883T>A (p.Val628Glu)
21g.25891772C>ACA409805527APPn.2128G>T
n.558G>T
n.827G>T
c.2161G>T (p.Val721Leu)
c.1936G>T (p.Val646Leu)
c.1768G>T (p.Val590Leu)
c.2104G>T (p.Val702Leu)
c.2107G>T (p.Val703Leu)
c.1831G>T (p.Val611Leu)
c.1993G>T (p.Val665Leu)
c.2089G>T (p.Val697Leu)
n.508G>T
c.2050G>T (p.Val684Leu)
c.1882G>T (p.Val628Leu)
21g.25891772C=CA2383551606APPn.2128G=
n.558G=
n.827G=
c.2161G= (p.Val721=)
c.1936G= (p.Val646=)
c.1768G= (p.Val590=)
c.2104G= (p.Val702=)
c.2107G= (p.Val703=)
c.1831G= (p.Val611=)
c.1993G= (p.Val665=)
c.2089G= (p.Val697=)
n.508G=
c.2050G= (p.Val684=)
c.1882G= (p.Val628=)
21g.25891772C>GCA409805528APPn.2128G>C
n.558G>C
n.827G>C
c.2161G>C (p.Val721Leu)
c.1936G>C (p.Val646Leu)
c.1768G>C (p.Val590Leu)
c.2104G>C (p.Val702Leu)
c.2107G>C (p.Val703Leu)
c.1831G>C (p.Val611Leu)
c.1993G>C (p.Val665Leu)
c.2089G>C (p.Val697Leu)
n.508G>C
c.2050G>C (p.Val684Leu)
c.1882G>C (p.Val628Leu)
21g.25891772C>TCA409805529APPn.2128G>A
n.558G>A
n.827G>A
c.2161G>A (p.Val721Met)
c.1936G>A (p.Val646Met)
c.1768G>A (p.Val590Met)
c.2104G>A (p.Val702Met)
c.2107G>A (p.Val703Met)
c.1831G>A (p.Val611Met)
c.1993G>A (p.Val665Met)
c.2089G>A (p.Val697Met)
n.508G>A
c.2050G>A (p.Val684Met)
c.1882G>A (p.Val628Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.25891773C>ACA409805530APPn.2127G>T
n.557G>T
n.826G>T
c.2160G>T (p.Leu720Phe)
c.1935G>T (p.Leu645Phe)
c.1767G>T (p.Leu589Phe)
c.2103G>T (p.Leu701Phe)
c.2106G>T (p.Leu702Phe)
c.1830G>T (p.Leu610Phe)
c.1992G>T (p.Leu664Phe)
c.2088G>T (p.Leu696Phe)
n.507G>T
c.2049G>T (p.Leu683Phe)
c.1881G>T (p.Leu627Phe)
21g.25891773C>GCA409805531APPn.2127G>C
n.557G>C
n.826G>C
c.2160G>C (p.Leu720Phe)
c.1935G>C (p.Leu645Phe)
c.1767G>C (p.Leu589Phe)
c.2103G>C (p.Leu701Phe)
c.2106G>C (p.Leu702Phe)
c.1830G>C (p.Leu610Phe)
c.1992G>C (p.Leu664Phe)
c.2088G>C (p.Leu696Phe)
n.507G>C
c.2049G>C (p.Leu683Phe)
c.1881G>C (p.Leu627Phe)
21g.25891773C>TCA511685985APPn.2127G>A
n.557G>A
n.826G>A
c.2160G>A (p.Leu720=)
c.1935G>A (p.Leu645=)
c.1767G>A (p.Leu589=)
c.2103G>A (p.Leu701=)
c.2106G>A (p.Leu702=)
c.1830G>A (p.Leu610=)
c.1992G>A (p.Leu664=)
c.2088G>A (p.Leu696=)
n.507G>A
c.2049G>A (p.Leu683=)
c.1881G>A (p.Leu627=)
21g.25891774A>CCA409805533APPn.2126T>G
n.556T>G
n.825T>G
c.2159T>G (p.Leu720Trp)
c.1934T>G (p.Leu645Trp)
c.1766T>G (p.Leu589Trp)
c.2102T>G (p.Leu701Trp)
c.2105T>G (p.Leu702Trp)
c.1829T>G (p.Leu610Trp)
c.1991T>G (p.Leu664Trp)
c.2087T>G (p.Leu696Trp)
n.506T>G
c.2048T>G (p.Leu683Trp)
c.1880T>G (p.Leu627Trp)
21g.25891774A>GCA409805534APPn.2126T>C
n.556T>C
n.825T>C
c.2159T>C (p.Leu720Ser)
c.1934T>C (p.Leu645Ser)
c.1766T>C (p.Leu589Ser)
c.2102T>C (p.Leu701Ser)
c.2105T>C (p.Leu702Ser)
c.1829T>C (p.Leu610Ser)
c.1991T>C (p.Leu664Ser)
c.2087T>C (p.Leu696Ser)
n.506T>C
c.2048T>C (p.Leu683Ser)
c.1880T>C (p.Leu627Ser)
21g.25891774A>TCA409805532APPn.2126T>A
n.556T>A
n.825T>A
c.2159T>A (p.Leu720Ter)
c.1934T>A (p.Leu645Ter)
c.1766T>A (p.Leu589Ter)
c.2102T>A (p.Leu701Ter)
c.2105T>A (p.Leu702Ter)
c.1829T>A (p.Leu610Ter)
c.1991T>A (p.Leu664Ter)
c.2087T>A (p.Leu696Ter)
n.506T>A
c.2048T>A (p.Leu683Ter)
c.1880T>A (p.Leu627Ter)
 gnomAD v4
21g.25891775A>CCA409805535APPn.2125T>G
n.555T>G
n.824T>G
c.2158T>G (p.Leu720Val)
c.1933T>G (p.Leu645Val)
c.1765T>G (p.Leu589Val)
c.2101T>G (p.Leu701Val)
c.2104T>G (p.Leu702Val)
c.1828T>G (p.Leu610Val)
c.1990T>G (p.Leu664Val)
c.2086T>G (p.Leu696Val)
n.505T>G
c.2047T>G (p.Leu683Val)
c.1879T>G (p.Leu627Val)
21g.25891775A>GCA511685986APPn.2125T>C
n.555T>C
n.824T>C
c.2158T>C (p.Leu720=)
c.1933T>C (p.Leu645=)
c.1765T>C (p.Leu589=)
c.2101T>C (p.Leu701=)
c.2104T>C (p.Leu702=)
c.1828T>C (p.Leu610=)
c.1990T>C (p.Leu664=)
c.2086T>C (p.Leu696=)
n.505T>C
c.2047T>C (p.Leu683=)
c.1879T>C (p.Leu627=)
21g.25891775A>TCA409805536APPn.2125T>A
n.555T>A
n.824T>A
c.2158T>A (p.Leu720Met)
c.1933T>A (p.Leu645Met)
c.1765T>A (p.Leu589Met)
c.2101T>A (p.Leu701Met)
c.2104T>A (p.Leu702Met)
c.1828T>A (p.Leu610Met)
c.1990T>A (p.Leu664Met)
c.2086T>A (p.Leu696Met)
n.505T>A
c.2047T>A (p.Leu683Met)
c.1879T>A (p.Leu627Met)
 gnomAD v4
21g.25891776G>ACA511685987APPn.2124C>T
n.554C>T
n.823C>T
c.2157C>T (p.Thr719=)
c.1932C>T (p.Thr644=)
c.1764C>T (p.Thr588=)
c.2100C>T (p.Thr700=)
c.2103C>T (p.Thr701=)
c.1827C>T (p.Thr609=)
c.1989C>T (p.Thr663=)
c.2085C>T (p.Thr695=)
n.504C>T
c.2046C>T (p.Thr682=)
c.1878C>T (p.Thr626=)
 gnomAD v4
21g.25891776G>CCA511685988APPn.2124C>G
n.554C>G
n.823C>G
c.2157C>G (p.Thr719=)
c.1932C>G (p.Thr644=)
c.1764C>G (p.Thr588=)
c.2100C>G (p.Thr700=)
c.2103C>G (p.Thr701=)
c.1827C>G (p.Thr609=)
c.1989C>G (p.Thr663=)
c.2085C>G (p.Thr695=)
n.504C>G
c.2046C>G (p.Thr682=)
c.1878C>G (p.Thr626=)
21g.25891776G>TCA511685989APPn.2124C>A
n.554C>A
n.823C>A
c.2157C>A (p.Thr719=)
c.1932C>A (p.Thr644=)
c.1764C>A (p.Thr588=)
c.2100C>A (p.Thr700=)
c.2103C>A (p.Thr701=)
c.1827C>A (p.Thr609=)
c.1989C>A (p.Thr663=)
c.2085C>A (p.Thr695=)
n.504C>A
c.2046C>A (p.Thr682=)
c.1878C>A (p.Thr626=)
21g.25891777G>ACA409805537APPn.2123C>T
n.553C>T
n.822C>T
c.2156C>T (p.Thr719Ile)
c.1931C>T (p.Thr644Ile)
c.1763C>T (p.Thr588Ile)
c.2099C>T (p.Thr700Ile)
c.2102C>T (p.Thr701Ile)
c.1826C>T (p.Thr609Ile)
c.1988C>T (p.Thr663Ile)
c.2084C>T (p.Thr695Ile)
n.503C>T
c.2045C>T (p.Thr682Ile)
c.1877C>T (p.Thr626Ile)
 dbSNP
21g.25891777G>CCA409805538APPn.2123C>G
n.553C>G
n.822C>G
c.2156C>G (p.Thr719Ser)
c.1931C>G (p.Thr644Ser)
c.1763C>G (p.Thr588Ser)
c.2099C>G (p.Thr700Ser)
c.2102C>G (p.Thr701Ser)
c.1826C>G (p.Thr609Ser)
c.1988C>G (p.Thr663Ser)
c.2084C>G (p.Thr695Ser)
n.503C>G
c.2045C>G (p.Thr682Ser)
c.1877C>G (p.Thr626Ser)
21g.25891777G=CA2383551607APPn.2123C=
n.553C=
n.822C=
c.2156C= (p.Thr719=)
c.1931C= (p.Thr644=)
c.1763C= (p.Thr588=)
c.2099C= (p.Thr700=)
c.2102C= (p.Thr701=)
c.1826C= (p.Thr609=)
c.1988C= (p.Thr663=)
c.2084C= (p.Thr695=)
n.503C=
c.2045C= (p.Thr682=)
c.1877C= (p.Thr626=)
21g.25891777G>TCA409805539APPn.2123C>A
n.553C>A
n.822C>A
c.2156C>A (p.Thr719Asn)
c.1931C>A (p.Thr644Asn)
c.1763C>A (p.Thr588Asn)
c.2099C>A (p.Thr700Asn)
c.2102C>A (p.Thr701Asn)
c.1826C>A (p.Thr609Asn)
c.1988C>A (p.Thr663Asn)
c.2084C>A (p.Thr695Asn)
n.503C>A
c.2045C>A (p.Thr682Asn)
c.1877C>A (p.Thr626Asn)
21g.25891778T>ACA409805540APPn.2122A>T
n.552A>T
n.821A>T
c.2155A>T (p.Thr719Ser)
c.1930A>T (p.Thr644Ser)
c.1762A>T (p.Thr588Ser)
c.2098A>T (p.Thr700Ser)
c.2101A>T (p.Thr701Ser)
c.1825A>T (p.Thr609Ser)
c.1987A>T (p.Thr663Ser)
c.2083A>T (p.Thr695Ser)
n.502A>T
c.2044A>T (p.Thr682Ser)
c.1876A>T (p.Thr626Ser)
21g.25891778T>CCA409805541APPn.2122A>G
n.552A>G
n.821A>G
c.2155A>G (p.Thr719Ala)
c.1930A>G (p.Thr644Ala)
c.1762A>G (p.Thr588Ala)
c.2098A>G (p.Thr700Ala)
c.2101A>G (p.Thr701Ala)
c.1825A>G (p.Thr609Ala)
c.1987A>G (p.Thr663Ala)
c.2083A>G (p.Thr695Ala)
n.502A>G
c.2044A>G (p.Thr682Ala)
c.1876A>G (p.Thr626Ala)
21g.25891778T>GCA409805542APPn.2122A>C
n.552A>C
n.821A>C
c.2155A>C (p.Thr719Pro)
c.1930A>C (p.Thr644Pro)
c.1762A>C (p.Thr588Pro)
c.2098A>C (p.Thr700Pro)
c.2101A>C (p.Thr701Pro)
c.1825A>C (p.Thr609Pro)
c.1987A>C (p.Thr663Pro)
c.2083A>C (p.Thr695Pro)
n.502A>C
c.2044A>C (p.Thr682Pro)
c.1876A>C (p.Thr626Pro)
 ClinVar dbSNP
21g.25891779G>ACA511685992APPn.2121C>T
n.551C>T
n.820C>T
c.2154C>T (p.Ile718=)
c.1929C>T (p.Ile643=)
c.1761C>T (p.Ile587=)
c.2097C>T (p.Ile699=)
c.2100C>T (p.Ile700=)
c.1824C>T (p.Ile608=)
c.1986C>T (p.Ile662=)
c.2082C>T (p.Ile694=)
n.501C>T
c.2043C>T (p.Ile681=)
c.1875C>T (p.Ile625=)
21g.25891779G>CCA409805543APPn.2121C>G
n.551C>G
n.820C>G
c.2154C>G (p.Ile718Met)
c.1929C>G (p.Ile643Met)
c.1761C>G (p.Ile587Met)
c.2097C>G (p.Ile699Met)
c.2100C>G (p.Ile700Met)
c.1824C>G (p.Ile608Met)
c.1986C>G (p.Ile662Met)
c.2082C>G (p.Ile694Met)
n.501C>G
c.2043C>G (p.Ile681Met)
c.1875C>G (p.Ile625Met)
21g.25891779G>TCA511685991APPn.2121C>A
n.551C>A
n.820C>A
c.2154C>A (p.Ile718=)
c.1929C>A (p.Ile643=)
c.1761C>A (p.Ile587=)
c.2097C>A (p.Ile699=)
c.2100C>A (p.Ile700=)
c.1824C>A (p.Ile608=)
c.1986C>A (p.Ile662=)
c.2082C>A (p.Ile694=)
n.501C>A
c.2043C>A (p.Ile681=)
c.1875C>A (p.Ile625=)
21g.25891780A>CCA409805544APPn.2120T>G
n.550T>G
n.819T>G
c.2153T>G (p.Ile718Ser)
c.1928T>G (p.Ile643Ser)
c.1760T>G (p.Ile587Ser)
c.2096T>G (p.Ile699Ser)
c.2099T>G (p.Ile700Ser)
c.1823T>G (p.Ile608Ser)
c.1985T>G (p.Ile662Ser)
c.2081T>G (p.Ile694Ser)
n.500T>G
c.2042T>G (p.Ile681Ser)
c.1874T>G (p.Ile625Ser)
21g.25891780A>GCA409805545APPn.2120T>C
n.550T>C
n.819T>C
c.2153T>C (p.Ile718Thr)
c.1928T>C (p.Ile643Thr)
c.1760T>C (p.Ile587Thr)
c.2096T>C (p.Ile699Thr)
c.2099T>C (p.Ile700Thr)
c.1823T>C (p.Ile608Thr)
c.1985T>C (p.Ile662Thr)
c.2081T>C (p.Ile694Thr)
n.500T>C
c.2042T>C (p.Ile681Thr)
c.1874T>C (p.Ile625Thr)
21g.25891780A>TCA409805546APPn.2120T>A
n.550T>A
n.819T>A
c.2153T>A (p.Ile718Asn)
c.1928T>A (p.Ile643Asn)
c.1760T>A (p.Ile587Asn)
c.2096T>A (p.Ile699Asn)
c.2099T>A (p.Ile700Asn)
c.1823T>A (p.Ile608Asn)
c.1985T>A (p.Ile662Asn)
c.2081T>A (p.Ile694Asn)
n.500T>A
c.2042T>A (p.Ile681Asn)
c.1874T>A (p.Ile625Asn)
21g.25891781T>ACA409805548APPn.2119A>T
n.549A>T
n.818A>T
c.2152A>T (p.Ile718Phe)
c.1927A>T (p.Ile643Phe)
c.1759A>T (p.Ile587Phe)
c.2095A>T (p.Ile699Phe)
c.2098A>T (p.Ile700Phe)
c.1822A>T (p.Ile608Phe)
c.1984A>T (p.Ile662Phe)
c.2080A>T (p.Ile694Phe)
n.499A>T
c.2041A>T (p.Ile681Phe)
c.1873A>T (p.Ile625Phe)
 dbSNP gnomAD v2 gnomAD v4
21g.25891781T>CCA409805549APPn.2119A>G
n.549A>G
n.818A>G
c.2152A>G (p.Ile718Val)
c.1927A>G (p.Ile643Val)
c.1759A>G (p.Ile587Val)
c.2095A>G (p.Ile699Val)
c.2098A>G (p.Ile700Val)
c.1822A>G (p.Ile608Val)
c.1984A>G (p.Ile662Val)
c.2080A>G (p.Ile694Val)
n.499A>G
c.2041A>G (p.Ile681Val)
c.1873A>G (p.Ile625Val)
 dbSNP gnomAD v4
21g.25891781T>GCA409805547APPn.2119A>C
n.549A>C
n.818A>C
c.2152A>C (p.Ile718Leu)
c.1927A>C (p.Ile643Leu)
c.1759A>C (p.Ile587Leu)
c.2095A>C (p.Ile699Leu)
c.2098A>C (p.Ile700Leu)
c.1822A>C (p.Ile608Leu)
c.1984A>C (p.Ile662Leu)
c.2080A>C (p.Ile694Leu)
n.499A>C
c.2041A>C (p.Ile681Leu)
c.1873A>C (p.Ile625Leu)
21g.25891781T=CA2383551608APPn.2119A=
n.549A=
n.818A=
c.2152A= (p.Ile718=)
c.1927A= (p.Ile643=)
c.1759A= (p.Ile587=)
c.2095A= (p.Ile699=)
c.2098A= (p.Ile700=)
c.1822A= (p.Ile608=)
c.1984A= (p.Ile662=)
c.2080A= (p.Ile694=)
n.499A=
c.2041A= (p.Ile681=)
c.1873A= (p.Ile625=)
21g.25891782G>ACA511685995APPn.2118C>T
n.548C>T
n.817C>T
c.2151C>T (p.Val717=)
c.1926C>T (p.Val642=)
c.1758C>T (p.Val586=)
c.2094C>T (p.Val698=)
c.2097C>T (p.Val699=)
c.1821C>T (p.Val607=)
c.1983C>T (p.Val661=)
c.2079C>T (p.Val693=)
n.498C>T
c.2040C>T (p.Val680=)
c.1872C>T (p.Val624=)
21g.25891782G>CCA511685993APPn.2118C>G
n.548C>G
n.817C>G
c.2151C>G (p.Val717=)
c.1926C>G (p.Val642=)
c.1758C>G (p.Val586=)
c.2094C>G (p.Val698=)
c.2097C>G (p.Val699=)
c.1821C>G (p.Val607=)
c.1983C>G (p.Val661=)
c.2079C>G (p.Val693=)
n.498C>G
c.2040C>G (p.Val680=)
c.1872C>G (p.Val624=)
21g.25891782G=CA2383551609APPn.2118C=
n.548C=
n.817C=
c.2151C= (p.Val717=)
c.1926C= (p.Val642=)
c.1758C= (p.Val586=)
c.2094C= (p.Val698=)
c.2097C= (p.Val699=)
c.1821C= (p.Val607=)
c.1983C= (p.Val661=)
c.2079C= (p.Val693=)
n.498C=
c.2040C= (p.Val680=)
c.1872C= (p.Val624=)
21g.25891782G>TCA511685994APPn.2118C>A
n.548C>A
n.817C>A
c.2151C>A (p.Val717=)
c.1926C>A (p.Val642=)
c.1758C>A (p.Val586=)
c.2094C>A (p.Val698=)
c.2097C>A (p.Val699=)
c.1821C>A (p.Val607=)
c.1983C>A (p.Val661=)
c.2079C>A (p.Val693=)
n.498C>A
c.2040C>A (p.Val680=)
c.1872C>A (p.Val624=)
 dbSNP gnomAD v4
21g.25891784_25891786delCA2817564437APPn.2116_2118del
n.546_548del
n.815_817del
c.2149_2151del (p.Val717del)
c.1924_1926del (p.Val642del)
c.1756_1758del (p.Val586del)
c.2092_2094del (p.Val698del)
c.2095_2097del (p.Val699del)
c.1819_1821del (p.Val607del)
c.1981_1983del (p.Val661del)
c.2077_2079del (p.Val693del)
n.496_498del
c.2038_2040del (p.Val680del)
c.1870_1872del (p.Val624del)
21g.25891783A=CA2383551610APPn.2117T=
n.547T=
n.816T=
c.2150T= (p.Val717=)
c.1925T= (p.Val642=)
c.1757T= (p.Val586=)
c.2093T= (p.Val698=)
c.2096T= (p.Val699=)
c.1820T= (p.Val607=)
c.1982T= (p.Val661=)
c.2078T= (p.Val693=)
n.497T=
c.2039T= (p.Val680=)
c.1871T= (p.Val624=)
21g.25891783A>CCA127793APPn.2117T>G
n.547T>G
n.816T>G
c.2150T>G (p.Val717Gly)
c.1925T>G (p.Val642Gly)
c.1757T>G (p.Val586Gly)
c.2093T>G (p.Val698Gly)
c.2096T>G (p.Val699Gly)
c.1820T>G (p.Val607Gly)
c.1982T>G (p.Val661Gly)
c.2078T>G (p.Val693Gly)
n.497T>G
c.2039T>G (p.Val680Gly)
c.1871T>G (p.Val624Gly)
 ClinVar dbSNP
21g.25891783A>GCA409805550APPn.2117T>C
n.547T>C
n.816T>C
c.2150T>C (p.Val717Ala)
c.1925T>C (p.Val642Ala)
c.1757T>C (p.Val586Ala)
c.2093T>C (p.Val698Ala)
c.2096T>C (p.Val699Ala)
c.1820T>C (p.Val607Ala)
c.1982T>C (p.Val661Ala)
c.2078T>C (p.Val693Ala)
n.497T>C
c.2039T>C (p.Val680Ala)
c.1871T>C (p.Val624Ala)
21g.25891783A>TCA409805551APPn.2117T>A
n.547T>A
n.816T>A
c.2150T>A (p.Val717Asp)
c.1925T>A (p.Val642Asp)
c.1757T>A (p.Val586Asp)
c.2093T>A (p.Val698Asp)
c.2096T>A (p.Val699Asp)
c.1820T>A (p.Val607Asp)
c.1982T>A (p.Val661Asp)
c.2078T>A (p.Val693Asp)
n.497T>A
c.2039T>A (p.Val680Asp)
c.1871T>A (p.Val624Asp)
21g.25891784C>ACA127792APPn.2116G>T
n.546G>T
n.815G>T
c.2149G>T (p.Val717Phe)
c.1924G>T (p.Val642Phe)
c.1756G>T (p.Val586Phe)
c.2092G>T (p.Val698Phe)
c.2095G>T (p.Val699Phe)
c.1819G>T (p.Val607Phe)
c.1981G>T (p.Val661Phe)
c.2077G>T (p.Val693Phe)
n.496G>T
c.2038G>T (p.Val680Phe)
c.1870G>T (p.Val624Phe)
 ClinVar dbSNP
21g.25891784C=CA2383551611APPn.2116G=
n.546G=
n.815G=
c.2149G= (p.Val717=)
c.1924G= (p.Val642=)
c.1756G= (p.Val586=)
c.2092G= (p.Val698=)
c.2095G= (p.Val699=)
c.1819G= (p.Val607=)
c.1981G= (p.Val661=)
c.2077G= (p.Val693=)
n.496G=
c.2038G= (p.Val680=)
c.1870G= (p.Val624=)
21g.25891784C>GCA127816APPn.2116G>C
n.546G>C
n.815G>C
c.2149G>C (p.Val717Leu)
c.1924G>C (p.Val642Leu)
c.1756G>C (p.Val586Leu)
c.2092G>C (p.Val698Leu)
c.2095G>C (p.Val699Leu)
c.1819G>C (p.Val607Leu)
c.1981G>C (p.Val661Leu)
c.2077G>C (p.Val693Leu)
n.496G>C
c.2038G>C (p.Val680Leu)
c.1870G>C (p.Val624Leu)
 ClinVar dbSNP
21g.25891784C>TCA127791APPn.2116G>A
n.546G>A
n.815G>A
c.2149G>A (p.Val717Ile)
c.1924G>A (p.Val642Ile)
c.1756G>A (p.Val586Ile)
c.2092G>A (p.Val698Ile)
c.2095G>A (p.Val699Ile)
c.1819G>A (p.Val607Ile)
c.1981G>A (p.Val661Ile)
c.2077G>A (p.Val693Ile)
n.496G>A
c.2038G>A (p.Val680Ile)
c.1870G>A (p.Val624Ile)
 ClinVar dbSNP gnomAD v4
21g.25891785G>ACA9987050APPn.2115C>T
n.545C>T
n.814C>T
c.2148C>T (p.Ile716=)
c.1923C>T (p.Ile641=)
c.1755C>T (p.Ile585=)
c.2091C>T (p.Ile697=)
c.2094C>T (p.Ile698=)
c.1818C>T (p.Ile606=)
c.1980C>T (p.Ile660=)
c.2076C>T (p.Ile692=)
n.495C>T
c.2037C>T (p.Ile679=)
c.1869C>T (p.Ile623=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.25891785G>CCA409805552APPn.2115C>G
n.545C>G
n.814C>G
c.2148C>G (p.Ile716Met)
c.1923C>G (p.Ile641Met)
c.1755C>G (p.Ile585Met)
c.2091C>G (p.Ile697Met)
c.2094C>G (p.Ile698Met)
c.1818C>G (p.Ile606Met)
c.1980C>G (p.Ile660Met)
c.2076C>G (p.Ile692Met)
n.495C>G
c.2037C>G (p.Ile679Met)
c.1869C>G (p.Ile623Met)
 ClinVar dbSNP gnomAD v4
21g.25891785G=CA2383551612APPn.2115C=
n.545C=
n.814C=
c.2148C= (p.Ile716=)
c.1923C= (p.Ile641=)
c.1755C= (p.Ile585=)
c.2091C= (p.Ile697=)
c.2094C= (p.Ile698=)
c.1818C= (p.Ile606=)
c.1980C= (p.Ile660=)
c.2076C= (p.Ile692=)
n.495C=
c.2037C= (p.Ile679=)
c.1869C= (p.Ile623=)
21g.25891785G>TCA9987049APPn.2115C>A
n.545C>A
n.814C>A
c.2148C>A (p.Ile716=)
c.1923C>A (p.Ile641=)
c.1755C>A (p.Ile585=)
c.2091C>A (p.Ile697=)
c.2094C>A (p.Ile698=)
c.1818C>A (p.Ile606=)
c.1980C>A (p.Ile660=)
c.2076C>A (p.Ile692=)
n.495C>A
c.2037C>A (p.Ile679=)
c.1869C>A (p.Ile623=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25891786A=CA2383551613APPn.2114T=
n.544T=
n.813T=
c.2147T= (p.Ile716=)
c.1922T= (p.Ile641=)
c.1754T= (p.Ile585=)
c.2090T= (p.Ile697=)
c.2093T= (p.Ile698=)
c.1817T= (p.Ile606=)
c.1979T= (p.Ile660=)
c.2075T= (p.Ile692=)
n.494T=
c.2036T= (p.Ile679=)
c.1868T= (p.Ile623=)
21g.25891786A>CCA409805553APPn.2114T>G
n.544T>G
n.813T>G
c.2147T>G (p.Ile716Ser)
c.1922T>G (p.Ile641Ser)
c.1754T>G (p.Ile585Ser)
c.2090T>G (p.Ile697Ser)
c.2093T>G (p.Ile698Ser)
c.1817T>G (p.Ile606Ser)
c.1979T>G (p.Ile660Ser)
c.2075T>G (p.Ile692Ser)
n.494T>G
c.2036T>G (p.Ile679Ser)
c.1868T>G (p.Ile623Ser)
21g.25891786A>GCA225511APPn.2114T>C
n.544T>C
n.813T>C
c.2147T>C (p.Ile716Thr)
c.1922T>C (p.Ile641Thr)
c.1754T>C (p.Ile585Thr)
c.2090T>C (p.Ile697Thr)
c.2093T>C (p.Ile698Thr)
c.1817T>C (p.Ile606Thr)
c.1979T>C (p.Ile660Thr)
c.2075T>C (p.Ile692Thr)
n.494T>C
c.2036T>C (p.Ile679Thr)
c.1868T>C (p.Ile623Thr)
 ClinVar dbSNP
21g.25891786A>TCA409805554APPn.2114T>A
n.544T>A
n.813T>A
c.2147T>A (p.Ile716Asn)
c.1922T>A (p.Ile641Asn)
c.1754T>A (p.Ile585Asn)
c.2090T>A (p.Ile697Asn)
c.2093T>A (p.Ile698Asn)
c.1817T>A (p.Ile606Asn)
c.1979T>A (p.Ile660Asn)
c.2075T>A (p.Ile692Asn)
n.494T>A
c.2036T>A (p.Ile679Asn)
c.1868T>A (p.Ile623Asn)
21g.25891787T>ACA409805555APPn.2113A>T
n.543A>T
n.812A>T
c.2146A>T (p.Ile716Phe)
c.1921A>T (p.Ile641Phe)
c.1753A>T (p.Ile585Phe)
c.2089A>T (p.Ile697Phe)
c.2092A>T (p.Ile698Phe)
c.1816A>T (p.Ile606Phe)
c.1978A>T (p.Ile660Phe)
c.2074A>T (p.Ile692Phe)
n.493A>T
c.2035A>T (p.Ile679Phe)
c.1867A>T (p.Ile623Phe)
 ClinVar dbSNP
21g.25891787T>CCA127799APPn.2113A>G
n.543A>G
n.812A>G
c.2146A>G (p.Ile716Val)
c.1921A>G (p.Ile641Val)
c.1753A>G (p.Ile585Val)
c.2089A>G (p.Ile697Val)
c.2092A>G (p.Ile698Val)
c.1816A>G (p.Ile606Val)
c.1978A>G (p.Ile660Val)
c.2074A>G (p.Ile692Val)
n.493A>G
c.2035A>G (p.Ile679Val)
c.1867A>G (p.Ile623Val)
 ClinVar dbSNP
21g.25891787T>GCA409805556APPn.2113A>C
n.543A>C
n.812A>C
c.2146A>C (p.Ile716Leu)
c.1921A>C (p.Ile641Leu)
c.1753A>C (p.Ile585Leu)
c.2089A>C (p.Ile697Leu)
c.2092A>C (p.Ile698Leu)
c.1816A>C (p.Ile606Leu)
c.1978A>C (p.Ile660Leu)
c.2074A>C (p.Ile692Leu)
n.493A>C
c.2035A>C (p.Ile679Leu)
c.1867A>C (p.Ile623Leu)
21g.25891787T=CA2383551614APPn.2113A=
n.543A=
n.812A=
c.2146A= (p.Ile716=)
c.1921A= (p.Ile641=)
c.1753A= (p.Ile585=)
c.2089A= (p.Ile697=)
c.2092A= (p.Ile698=)
c.1816A= (p.Ile606=)
c.1978A= (p.Ile660=)
c.2074A= (p.Ile692=)
n.493A=
c.2035A= (p.Ile679=)
c.1867A= (p.Ile623=)
21g.25891787_25891788delinsCACA2573157339APPn.2112_2113delinsTG
n.542_543delinsTG
n.811_812delinsTG
c.2145_2146delinsTG (p.Ile716Val)
c.1920_1921delinsTG (p.Ile641Val)
c.1752_1753delinsTG (p.Ile585Val)
c.2088_2089delinsTG (p.Ile697Val)
c.2091_2092delinsTG (p.Ile698Val)
c.1815_1816delinsTG (p.Ile606Val)
c.1977_1978delinsTG (p.Ile660Val)
c.2073_2074delinsTG (p.Ile692Val)
n.492_493delinsTG
c.2034_2035delinsTG (p.Ile679Val)
c.1866_1867delinsTG (p.Ile623Val)
 ClinVar dbSNP
21g.25891788C>ACA511685997APPn.2112G>T
n.542G>T
n.811G>T
c.2145G>T (p.Val715=)
c.1920G>T (p.Val640=)
c.1752G>T (p.Val584=)
c.2088G>T (p.Val696=)
c.2091G>T (p.Val697=)
c.1815G>T (p.Val605=)
c.1977G>T (p.Val659=)
c.2073G>T (p.Val691=)
n.492G>T
c.2034G>T (p.Val678=)
c.1866G>T (p.Val622=)
21g.25891788C=CA2383551615APPn.2112G=
n.542G=
n.811G=
c.2145G= (p.Val715=)
c.1920G= (p.Val640=)
c.1752G= (p.Val584=)
c.2088G= (p.Val696=)
c.2091G= (p.Val697=)
c.1815G= (p.Val605=)
c.1977G= (p.Val659=)
c.2073G= (p.Val691=)
n.492G=
c.2034G= (p.Val678=)
c.1866G= (p.Val622=)
21g.25891788C>GCA511685996APPn.2112G>C
n.542G>C
n.811G>C
c.2145G>C (p.Val715=)
c.1920G>C (p.Val640=)
c.1752G>C (p.Val584=)
c.2088G>C (p.Val696=)
c.2091G>C (p.Val697=)
c.1815G>C (p.Val605=)
c.1977G>C (p.Val659=)
c.2073G>C (p.Val691=)
n.492G>C
c.2034G>C (p.Val678=)
c.1866G>C (p.Val622=)
21g.25891788C>TCA225509APPn.2112G>A
n.542G>A
n.811G>A
c.2145G>A (p.Val715=)
c.1920G>A (p.Val640=)
c.1752G>A (p.Val584=)
c.2088G>A (p.Val696=)
c.2091G>A (p.Val697=)
c.1815G>A (p.Val605=)
c.1977G>A (p.Val659=)
c.2073G>A (p.Val691=)
n.492G>A
c.2034G>A (p.Val678=)
c.1866G>A (p.Val622=)
 ClinVar dbSNP
21g.25891789A=CA2383551616APPn.2111T=
n.541T=
n.810T=
c.2144T= (p.Val715=)
c.1919T= (p.Val640=)
c.1751T= (p.Val584=)
c.2087T= (p.Val696=)
c.2090T= (p.Val697=)
c.1814T= (p.Val605=)
c.1976T= (p.Val659=)
c.2072T= (p.Val691=)
n.491T=
c.2033T= (p.Val678=)
c.1865T= (p.Val622=)
21g.25891789A>CCA409805557APPn.2111T>G
n.541T>G
n.810T>G
c.2144T>G (p.Val715Gly)
c.1919T>G (p.Val640Gly)
c.1751T>G (p.Val584Gly)
c.2087T>G (p.Val696Gly)
c.2090T>G (p.Val697Gly)
c.1814T>G (p.Val605Gly)
c.1976T>G (p.Val659Gly)
c.2072T>G (p.Val691Gly)
n.491T>G
c.2033T>G (p.Val678Gly)
c.1865T>G (p.Val622Gly)
 dbSNP gnomAD v2 gnomAD v4
21g.25891789A>GCA225507APPn.2111T>C
n.541T>C
n.810T>C
c.2144T>C (p.Val715Ala)
c.1919T>C (p.Val640Ala)
c.1751T>C (p.Val584Ala)
c.2087T>C (p.Val696Ala)
c.2090T>C (p.Val697Ala)
c.1814T>C (p.Val605Ala)
c.1976T>C (p.Val659Ala)
c.2072T>C (p.Val691Ala)
n.491T>C
c.2033T>C (p.Val678Ala)
c.1865T>C (p.Val622Ala)
 ClinVar dbSNP
21g.25891789A>TCA409805558APPn.2111T>A
n.541T>A
n.810T>A
c.2144T>A (p.Val715Glu)
c.1919T>A (p.Val640Glu)
c.1751T>A (p.Val584Glu)
c.2087T>A (p.Val696Glu)
c.2090T>A (p.Val697Glu)
c.1814T>A (p.Val605Glu)
c.1976T>A (p.Val659Glu)
c.2072T>A (p.Val691Glu)
n.491T>A
c.2033T>A (p.Val678Glu)
c.1865T>A (p.Val622Glu)
21g.25891790C>ACA409805559APPn.2110G>T
n.540G>T
n.809G>T
c.2143G>T (p.Val715Leu)
c.1918G>T (p.Val640Leu)
c.1750G>T (p.Val584Leu)
c.2086G>T (p.Val696Leu)
c.2089G>T (p.Val697Leu)
c.1813G>T (p.Val605Leu)
c.1975G>T (p.Val659Leu)
c.2071G>T (p.Val691Leu)
n.490G>T
c.2032G>T (p.Val678Leu)
c.1864G>T (p.Val622Leu)
21g.25891790C=CA2383551617APPn.2110G=
n.540G=
n.809G=
c.2143G= (p.Val715=)
c.1918G= (p.Val640=)
c.1750G= (p.Val584=)
c.2086G= (p.Val696=)
c.2089G= (p.Val697=)
c.1813G= (p.Val605=)
c.1975G= (p.Val659=)
c.2071G= (p.Val691=)
n.490G=
c.2032G= (p.Val678=)
c.1864G= (p.Val622=)
21g.25891790C>GCA409805560APPn.2110G>C
n.540G>C
n.809G>C
c.2143G>C (p.Val715Leu)
c.1918G>C (p.Val640Leu)
c.1750G>C (p.Val584Leu)
c.2086G>C (p.Val696Leu)
c.2089G>C (p.Val697Leu)
c.1813G>C (p.Val605Leu)
c.1975G>C (p.Val659Leu)
c.2071G>C (p.Val691Leu)
n.490G>C
c.2032G>C (p.Val678Leu)
c.1864G>C (p.Val622Leu)
21g.25891790C>TCA127800APPn.2110G>A
n.540G>A
n.809G>A
c.2143G>A (p.Val715Met)
c.1918G>A (p.Val640Met)
c.1750G>A (p.Val584Met)
c.2086G>A (p.Val696Met)
c.2089G>A (p.Val697Met)
c.1813G>A (p.Val605Met)
c.1975G>A (p.Val659Met)
c.2071G>A (p.Val691Met)
n.490G>A
c.2032G>A (p.Val678Met)
c.1864G>A (p.Val622Met)
 ClinVar dbSNP
21g.25891791T>ACA511685999APPn.2109A>T
n.539A>T
n.808A>T
c.2142A>T (p.Thr714=)
c.1917A>T (p.Thr639=)
c.1749A>T (p.Thr583=)
c.2085A>T (p.Thr695=)
c.2088A>T (p.Thr696=)
c.1812A>T (p.Thr604=)
c.1974A>T (p.Thr658=)
c.2070A>T (p.Thr690=)
n.489A>T
c.2031A>T (p.Thr677=)
c.1863A>T (p.Thr621=)
21g.25891791T>CCA511686001APPn.2109A>G
n.539A>G
n.808A>G
c.2142A>G (p.Thr714=)
c.1917A>G (p.Thr639=)
c.1749A>G (p.Thr583=)
c.2085A>G (p.Thr695=)
c.2088A>G (p.Thr696=)
c.1812A>G (p.Thr604=)
c.1974A>G (p.Thr658=)
c.2070A>G (p.Thr690=)
n.489A>G
c.2031A>G (p.Thr677=)
c.1863A>G (p.Thr621=)
 gnomAD v4
21g.25891791T>GCA511686000APPn.2109A>C
n.539A>C
n.808A>C
c.2142A>C (p.Thr714=)
c.1917A>C (p.Thr639=)
c.1749A>C (p.Thr583=)
c.2085A>C (p.Thr695=)
c.2088A>C (p.Thr696=)
c.1812A>C (p.Thr604=)
c.1974A>C (p.Thr658=)
c.2070A>C (p.Thr690=)
n.489A>C
c.2031A>C (p.Thr677=)
c.1863A>C (p.Thr621=)
21g.25891792G>ACA127803APPn.2108C>T
n.538C>T
n.807C>T
c.2141C>T (p.Thr714Ile)
c.1916C>T (p.Thr639Ile)
c.1748C>T (p.Thr583Ile)
c.2084C>T (p.Thr695Ile)
c.2087C>T (p.Thr696Ile)
c.1811C>T (p.Thr604Ile)
c.1973C>T (p.Thr658Ile)
c.2069C>T (p.Thr690Ile)
n.488C>T
c.2030C>T (p.Thr677Ile)
c.1862C>T (p.Thr621Ile)
 ClinVar dbSNP
21g.25891792G>CCA409805561APPn.2108C>G
n.538C>G
n.807C>G
c.2141C>G (p.Thr714Arg)
c.1916C>G (p.Thr639Arg)
c.1748C>G (p.Thr583Arg)
c.2084C>G (p.Thr695Arg)
c.2087C>G (p.Thr696Arg)
c.1811C>G (p.Thr604Arg)
c.1973C>G (p.Thr658Arg)
c.2069C>G (p.Thr690Arg)
n.488C>G
c.2030C>G (p.Thr677Arg)
c.1862C>G (p.Thr621Arg)
21g.25891792G=CA2383551618APPn.2108C=
n.538C=
n.807C=
c.2141C= (p.Thr714=)
c.1916C= (p.Thr639=)
c.1748C= (p.Thr583=)
c.2084C= (p.Thr695=)
c.2087C= (p.Thr696=)
c.1811C= (p.Thr604=)
c.1973C= (p.Thr658=)
c.2069C= (p.Thr690=)
n.488C=
c.2030C= (p.Thr677=)
c.1862C= (p.Thr621=)
21g.25891792G>TCA409805562APPn.2108C>A
n.538C>A
n.807C>A
c.2141C>A (p.Thr714Lys)
c.1916C>A (p.Thr639Lys)
c.1748C>A (p.Thr583Lys)
c.2084C>A (p.Thr695Lys)
c.2087C>A (p.Thr696Lys)
c.1811C>A (p.Thr604Lys)
c.1973C>A (p.Thr658Lys)
c.2069C>A (p.Thr690Lys)
n.488C>A
c.2030C>A (p.Thr677Lys)
c.1862C>A (p.Thr621Lys)
21g.25891793T>ACA409805563APPn.2107A>T
n.537A>T
n.806A>T
c.2140A>T (p.Thr714Ser)
c.1915A>T (p.Thr639Ser)
c.1747A>T (p.Thr583Ser)
c.2083A>T (p.Thr695Ser)
c.2086A>T (p.Thr696Ser)
c.1810A>T (p.Thr604Ser)
c.1972A>T (p.Thr658Ser)
c.2068A>T (p.Thr690Ser)
n.487A>T
c.2029A>T (p.Thr677Ser)
c.1861A>T (p.Thr621Ser)
21g.25891793T>CCA127814APPn.2107A>G
n.537A>G
n.806A>G
c.2140A>G (p.Thr714Ala)
c.1915A>G (p.Thr639Ala)
c.1747A>G (p.Thr583Ala)
c.2083A>G (p.Thr695Ala)
c.2086A>G (p.Thr696Ala)
c.1810A>G (p.Thr604Ala)
c.1972A>G (p.Thr658Ala)
c.2068A>G (p.Thr690Ala)
n.487A>G
c.2029A>G (p.Thr677Ala)
c.1861A>G (p.Thr621Ala)
 ClinVar dbSNP COSMIC
21g.25891793T>GCA409805564APPn.2107A>C
n.537A>C
n.806A>C
c.2140A>C (p.Thr714Pro)
c.1915A>C (p.Thr639Pro)
c.1747A>C (p.Thr583Pro)
c.2083A>C (p.Thr695Pro)
c.2086A>C (p.Thr696Pro)
c.1810A>C (p.Thr604Pro)
c.1972A>C (p.Thr658Pro)
c.2068A>C (p.Thr690Pro)
n.487A>C
c.2029A>C (p.Thr677Pro)
c.1861A>C (p.Thr621Pro)
21g.25891793T=CA2383551619APPn.2107A=
n.537A=
n.806A=
c.2140A= (p.Thr714=)
c.1915A= (p.Thr639=)
c.1747A= (p.Thr583=)
c.2083A= (p.Thr695=)
c.2086A= (p.Thr696=)
c.1810A= (p.Thr604=)
c.1972A= (p.Thr658=)
c.2068A= (p.Thr690=)
n.487A=
c.2029A= (p.Thr677=)
c.1861A= (p.Thr621=)
21g.25891794C>ACA511686003APPn.2106G>T
n.536G>T
n.805G>T
c.2139G>T (p.Ala713=)
c.1914G>T (p.Ala638=)
c.1746G>T (p.Ala582=)
c.2082G>T (p.Ala694=)
c.2085G>T (p.Ala695=)
c.1809G>T (p.Ala603=)
c.1971G>T (p.Ala657=)
c.2067G>T (p.Ala689=)
n.486G>T
c.2028G>T (p.Ala676=)
c.1860G>T (p.Ala620=)
21g.25891794C=CA2383551620APPn.2106G=
n.536G=
n.805G=
c.2139G= (p.Ala713=)
c.1914G= (p.Ala638=)
c.1746G= (p.Ala582=)
c.2082G= (p.Ala694=)
c.2085G= (p.Ala695=)
c.1809G= (p.Ala603=)
c.1971G= (p.Ala657=)
c.2067G= (p.Ala689=)
n.486G=
c.2028G= (p.Ala676=)
c.1860G= (p.Ala620=)
21g.25891794C>GCA511686002APPn.2106G>C
n.536G>C
n.805G>C
c.2139G>C (p.Ala713=)
c.1914G>C (p.Ala638=)
c.1746G>C (p.Ala582=)
c.2082G>C (p.Ala694=)
c.2085G>C (p.Ala695=)
c.1809G>C (p.Ala603=)
c.1971G>C (p.Ala657=)
c.2067G>C (p.Ala689=)
n.486G>C
c.2028G>C (p.Ala676=)
c.1860G>C (p.Ala620=)
21g.25891794C>TCA9987051APPn.2106G>A
n.536G>A
n.805G>A
c.2139G>A (p.Ala713=)
c.1914G>A (p.Ala638=)
c.1746G>A (p.Ala582=)
c.2082G>A (p.Ala694=)
c.2085G>A (p.Ala695=)
c.1809G>A (p.Ala603=)
c.1971G>A (p.Ala657=)
c.2067G>A (p.Ala689=)
n.486G>A
c.2028G>A (p.Ala676=)
c.1860G>A (p.Ala620=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.25891795G>ACA225505APPn.2105C>T
n.535C>T
n.804C>T
c.2138C>T (p.Ala713Val)
c.1913C>T (p.Ala638Val)
c.1745C>T (p.Ala582Val)
c.2081C>T (p.Ala694Val)
c.2084C>T (p.Ala695Val)
c.1808C>T (p.Ala603Val)
c.1970C>T (p.Ala657Val)
c.2066C>T (p.Ala689Val)
n.485C>T
c.2027C>T (p.Ala676Val)
c.1859C>T (p.Ala620Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.25891795G>CCA409805565APPn.2105C>G
n.535C>G
n.804C>G
c.2138C>G (p.Ala713Gly)
c.1913C>G (p.Ala638Gly)
c.1745C>G (p.Ala582Gly)
c.2081C>G (p.Ala694Gly)
c.2084C>G (p.Ala695Gly)
c.1808C>G (p.Ala603Gly)
c.1970C>G (p.Ala657Gly)
c.2066C>G (p.Ala689Gly)
n.485C>G
c.2027C>G (p.Ala676Gly)
c.1859C>G (p.Ala620Gly)
21g.25891795G=CA2383551621APPn.2105C=
n.535C=
n.804C=
c.2138C= (p.Ala713=)
c.1913C= (p.Ala638=)
c.1745C= (p.Ala582=)
c.2081C= (p.Ala694=)
c.2084C= (p.Ala695=)
c.1808C= (p.Ala603=)
c.1970C= (p.Ala657=)
c.2066C= (p.Ala689=)
n.485C=
c.2027C= (p.Ala676=)
c.1859C= (p.Ala620=)
21g.25891795G>TCA409805566APPn.2105C>A
n.535C>A
n.804C>A
c.2138C>A (p.Ala713Glu)
c.1913C>A (p.Ala638Glu)
c.1745C>A (p.Ala582Glu)
c.2081C>A (p.Ala694Glu)
c.2084C>A (p.Ala695Glu)
c.1808C>A (p.Ala603Glu)
c.1970C>A (p.Ala657Glu)
c.2066C>A (p.Ala689Glu)
n.485C>A
c.2027C>A (p.Ala676Glu)
c.1859C>A (p.Ala620Glu)
 COSMIC
21g.25891796C>ACA409805568APPn.2104G>T
n.534G>T
n.803G>T
c.2137G>T (p.Ala713Ser)
c.1912G>T (p.Ala638Ser)
c.1744G>T (p.Ala582Ser)
c.2080G>T (p.Ala694Ser)
c.2083G>T (p.Ala695Ser)
c.1807G>T (p.Ala603Ser)
c.1969G>T (p.Ala657Ser)
c.2065G>T (p.Ala689Ser)
n.484G>T
c.2026G>T (p.Ala676Ser)
c.1858G>T (p.Ala620Ser)
21g.25891796C=CA2383551622APPn.2104G=
n.534G=
n.803G=
c.2137G= (p.Ala713=)
c.1912G= (p.Ala638=)
c.1744G= (p.Ala582=)
c.2080G= (p.Ala694=)
c.2083G= (p.Ala695=)
c.1807G= (p.Ala603=)
c.1969G= (p.Ala657=)
c.2065G= (p.Ala689=)
n.484G=
c.2026G= (p.Ala676=)
c.1858G= (p.Ala620=)
21g.25891796C>GCA409805567APPn.2104G>C
n.534G>C
n.803G>C
c.2137G>C (p.Ala713Pro)
c.1912G>C (p.Ala638Pro)
c.1744G>C (p.Ala582Pro)
c.2080G>C (p.Ala694Pro)
c.2083G>C (p.Ala695Pro)
c.1807G>C (p.Ala603Pro)
c.1969G>C (p.Ala657Pro)
c.2065G>C (p.Ala689Pro)
n.484G>C
c.2026G>C (p.Ala676Pro)
c.1858G>C (p.Ala620Pro)
21g.25891796C>TCA090906APPn.2104G>A
n.534G>A
n.803G>A
c.2137G>A (p.Ala713Thr)
c.1912G>A (p.Ala638Thr)
c.1744G>A (p.Ala582Thr)
c.2080G>A (p.Ala694Thr)
c.2083G>A (p.Ala695Thr)
c.1807G>A (p.Ala603Thr)
c.1969G>A (p.Ala657Thr)
c.2065G>A (p.Ala689Thr)
n.484G>A
c.2026G>A (p.Ala676Thr)
c.1858G>A (p.Ala620Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25891797T>ACA511686004APPn.2103A>T
n.533A>T
n.802A>T
c.2136A>T (p.Ile712=)
c.1911A>T (p.Ile637=)
c.1743A>T (p.Ile581=)
c.2079A>T (p.Ile693=)
c.2082A>T (p.Ile694=)
c.1806A>T (p.Ile602=)
c.1968A>T (p.Ile656=)
c.2064A>T (p.Ile688=)
n.483A>T
c.2025A>T (p.Ile675=)
c.1857A>T (p.Ile619=)
21g.25891797T>CCA409805569APPn.2103A>G
n.533A>G
n.802A>G
c.2136A>G (p.Ile712Met)
c.1911A>G (p.Ile637Met)
c.1743A>G (p.Ile581Met)
c.2079A>G (p.Ile693Met)
c.2082A>G (p.Ile694Met)
c.1806A>G (p.Ile602Met)
c.1968A>G (p.Ile656Met)
c.2064A>G (p.Ile688Met)
n.483A>G
c.2025A>G (p.Ile675Met)
c.1857A>G (p.Ile619Met)
21g.25891797T>GCA511686005APPn.2103A>C
n.533A>C
n.802A>C
c.2136A>C (p.Ile712=)
c.1911A>C (p.Ile637=)
c.1743A>C (p.Ile581=)
c.2079A>C (p.Ile693=)
c.2082A>C (p.Ile694=)
c.1806A>C (p.Ile602=)
c.1968A>C (p.Ile656=)
c.2064A>C (p.Ile688=)
n.483A>C
c.2025A>C (p.Ile675=)
c.1857A>C (p.Ile619=)
21g.25891798A>CCA409805570APPn.2102T>G
n.532T>G
n.801T>G
c.2135T>G (p.Ile712Arg)
c.1910T>G (p.Ile637Arg)
c.1742T>G (p.Ile581Arg)
c.2078T>G (p.Ile693Arg)
c.2081T>G (p.Ile694Arg)
c.1805T>G (p.Ile602Arg)
c.1967T>G (p.Ile656Arg)
c.2063T>G (p.Ile688Arg)
n.482T>G
c.2024T>G (p.Ile675Arg)
c.1856T>G (p.Ile619Arg)
21g.25891798A>GCA409805571APPn.2102T>C
n.532T>C
n.801T>C
c.2135T>C (p.Ile712Thr)
c.1910T>C (p.Ile637Thr)
c.1742T>C (p.Ile581Thr)
c.2078T>C (p.Ile693Thr)
c.2081T>C (p.Ile694Thr)
c.1805T>C (p.Ile602Thr)
c.1967T>C (p.Ile656Thr)
c.2063T>C (p.Ile688Thr)
n.482T>C
c.2024T>C (p.Ile675Thr)
c.1856T>C (p.Ile619Thr)
21g.25891798A>TCA409805572APPn.2102T>A
n.532T>A
n.801T>A
c.2135T>A (p.Ile712Lys)
c.1910T>A (p.Ile637Lys)
c.1742T>A (p.Ile581Lys)
c.2078T>A (p.Ile693Lys)
c.2081T>A (p.Ile694Lys)
c.1805T>A (p.Ile602Lys)
c.1967T>A (p.Ile656Lys)
c.2063T>A (p.Ile688Lys)
n.482T>A
c.2024T>A (p.Ile675Lys)
c.1856T>A (p.Ile619Lys)
21g.25891799T>ACA409805573APPn.2101A>T
n.531A>T
n.800A>T
c.2134A>T (p.Ile712Leu)
c.1909A>T (p.Ile637Leu)
c.1741A>T (p.Ile581Leu)
c.2077A>T (p.Ile693Leu)
c.2080A>T (p.Ile694Leu)
c.1804A>T (p.Ile602Leu)
c.1966A>T (p.Ile656Leu)
c.2062A>T (p.Ile688Leu)
n.481A>T
c.2023A>T (p.Ile675Leu)
c.1855A>T (p.Ile619Leu)
21g.25891799T>CCA409805574APPn.2101A>G
n.531A>G
n.800A>G
c.2134A>G (p.Ile712Val)
c.1909A>G (p.Ile637Val)
c.1741A>G (p.Ile581Val)
c.2077A>G (p.Ile693Val)
c.2080A>G (p.Ile694Val)
c.1804A>G (p.Ile602Val)
c.1966A>G (p.Ile656Val)
c.2062A>G (p.Ile688Val)
n.481A>G
c.2023A>G (p.Ile675Val)
c.1855A>G (p.Ile619Val)
 dbSNP gnomAD v2 gnomAD v4
21g.25891799T>GCA409805575APPn.2101A>C
n.531A>C
n.800A>C
c.2134A>C (p.Ile712Leu)
c.1909A>C (p.Ile637Leu)
c.1741A>C (p.Ile581Leu)
c.2077A>C (p.Ile693Leu)
c.2080A>C (p.Ile694Leu)
c.1804A>C (p.Ile602Leu)
c.1966A>C (p.Ile656Leu)
c.2062A>C (p.Ile688Leu)
n.481A>C
c.2023A>C (p.Ile675Leu)
c.1855A>C (p.Ile619Leu)
21g.25891799T=CA2383551623APPn.2101A=
n.531A=
n.800A=
c.2134A= (p.Ile712=)
c.1909A= (p.Ile637=)
c.1741A= (p.Ile581=)
c.2077A= (p.Ile693=)
c.2080A= (p.Ile694=)
c.1804A= (p.Ile602=)
c.1966A= (p.Ile656=)
c.2062A= (p.Ile688=)
n.481A=
c.2023A= (p.Ile675=)
c.1855A= (p.Ile619=)
21g.25891800G>ACA511686006APPn.2100C>T
n.530C>T
n.799C>T
c.2133C>T (p.Val711=)
c.1908C>T (p.Val636=)
c.1740C>T (p.Val580=)
c.2076C>T (p.Val692=)
c.2079C>T (p.Val693=)
c.1803C>T (p.Val601=)
c.1965C>T (p.Val655=)
c.2061C>T (p.Val687=)
n.480C>T
c.2022C>T (p.Val674=)
c.1854C>T (p.Val618=)
21g.25891800G>CCA511686007APPn.2100C>G
n.530C>G
n.799C>G
c.2133C>G (p.Val711=)
c.1908C>G (p.Val636=)
c.1740C>G (p.Val580=)
c.2076C>G (p.Val692=)
c.2079C>G (p.Val693=)
c.1803C>G (p.Val601=)
c.1965C>G (p.Val655=)
c.2061C>G (p.Val687=)
n.480C>G
c.2022C>G (p.Val674=)
c.1854C>G (p.Val618=)
21g.25891800G=CA2383551624APPn.2100C=
n.530C=
n.799C=
c.2133C= (p.Val711=)
c.1908C= (p.Val636=)
c.1740C= (p.Val580=)
c.2076C= (p.Val692=)
c.2079C= (p.Val693=)
c.1803C= (p.Val601=)
c.1965C= (p.Val655=)
c.2061C= (p.Val687=)
n.480C=
c.2022C= (p.Val674=)
c.1854C= (p.Val618=)
21g.25891800G>TCA9987052APPn.2100C>A
n.530C>A
n.799C>A
c.2133C>A (p.Val711=)
c.1908C>A (p.Val636=)
c.1740C>A (p.Val580=)
c.2076C>A (p.Val692=)
c.2079C>A (p.Val693=)
c.1803C>A (p.Val601=)
c.1965C>A (p.Val655=)
c.2061C>A (p.Val687=)
n.480C>A
c.2022C>A (p.Val674=)
c.1854C>A (p.Val618=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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.25891813_25891814insAACA2817564447APPn.2087_2088insTT
n.517_518insTT
n.786_787insTT
c.2120_2121insTT (p.Gly708TrpfsTer6)
c.1895_1896insTT (p.Gly633TrpfsTer6)
c.1727_1728insTT (p.Gly577TrpfsTer6)
c.2063_2064insTT (p.Gly689TrpfsTer6)
c.2066_2067insTT (p.Gly690TrpfsTer6)
c.1790_1791insTT (p.Gly598TrpfsTer6)
c.1952_1953insTT (p.Gly652TrpfsTer6)
c.2048_2049insTT (p.Gly684TrpfsTer6)
n.467_468insTT
c.2009_2010insTT (p.Gly671TrpfsTer6)
c.1841_1842insTT (p.Gly615TrpfsTer6)
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
21g.25891814_25891815insACACCCAACACA2817564448APPn.2085_2086insTGTTGGGTGT
n.515_516insTGTTGGGTGT
n.784_785insTGTTGGGTGT
c.2118_2119insTGTTGGGTGT (p.Val707CysfsTer?)
c.1893_1894insTGTTGGGTGT (p.Val632CysfsTer?)
c.1725_1726insTGTTGGGTGT (p.Val576CysfsTer?)
c.2061_2062insTGTTGGGTGT (p.Val688CysfsTer?)
c.2064_2065insTGTTGGGTGT (p.Val689CysfsTer?)
c.1788_1789insTGTTGGGTGT (p.Val597CysfsTer?)
c.1950_1951insTGTTGGGTGT (p.Val651CysfsTer?)
c.2046_2047insTGTTGGGTGT (p.Val683CysfsTer?)
n.465_466insTGTTGGGTGT
c.2007_2008insTGTTGGGTGT (p.Val670CysfsTer?)
c.1839_1840insTGTTGGGTGT (p.Val614CysfsTer?)
21g.25891815C>ACA409805601APPn.2085G>T
n.515G>T
n.784G>T
c.2118G>T (p.Met706Ile)
c.1893G>T (p.Met631Ile)
c.1725G>T (p.Met575Ile)
c.2061G>T (p.Met687Ile)
c.2064G>T (p.Met688Ile)
c.1788G>T (p.Met596Ile)
c.1950G>T (p.Met650Ile)
c.2046G>T (p.Met682Ile)
n.465G>T
c.2007G>T (p.Met669Ile)
c.1839G>T (p.Met613Ile)
 gnomAD v4
21g.25891815C>GCA409805602APPn.2085G>C
n.515G>C
n.784G>C
c.2118G>C (p.Met706Ile)
c.1893G>C (p.Met631Ile)
c.1725G>C (p.Met575Ile)
c.2061G>C (p.Met687Ile)
c.2064G>C (p.Met688Ile)
c.1788G>C (p.Met596Ile)
c.1950G>C (p.Met650Ile)
c.2046G>C (p.Met682Ile)
n.465G>C
c.2007G>C (p.Met669Ile)
c.1839G>C (p.Met613Ile)
21g.25891815C>TCA409805603APPn.2085G>A
n.515G>A
n.784G>A
c.2118G>A (p.Met706Ile)
c.1893G>A (p.Met631Ile)
c.1725G>A (p.Met575Ile)
c.2061G>A (p.Met687Ile)
c.2064G>A (p.Met688Ile)
c.1788G>A (p.Met596Ile)
c.1950G>A (p.Met650Ile)
c.2046G>A (p.Met682Ile)
n.465G>A
c.2007G>A (p.Met669Ile)
c.1839G>A (p.Met613Ile)
21g.25891815_25891817delCA2654122462APPn.2083_2085del
n.513_515del
n.782_784del
c.2116_2118del (p.Met706del)
c.1891_1893del (p.Met631del)
c.1723_1725del (p.Met575del)
c.2059_2061del (p.Met687del)
c.2062_2064del (p.Met688del)
c.1786_1788del (p.Met596del)
c.1948_1950del (p.Met650del)
c.2044_2046del (p.Met682del)
n.463_465del
c.2005_2007del (p.Met669del)
c.1837_1839del (p.Met613del)
 gnomAD v4
21g.25891816A=CA2383551631APPn.2084T=
n.514T=
n.783T=
c.2117T= (p.Met706=)
c.1892T= (p.Met631=)
c.1724T= (p.Met575=)
c.2060T= (p.Met687=)
c.2063T= (p.Met688=)
c.1787T= (p.Met596=)
c.1949T= (p.Met650=)
c.2045T= (p.Met682=)
n.464T=
c.2006T= (p.Met669=)
c.1838T= (p.Met613=)
21g.25891816A>CCA409805605APPn.2084T>G
n.514T>G
n.783T>G
c.2117T>G (p.Met706Arg)
c.1892T>G (p.Met631Arg)
c.1724T>G (p.Met575Arg)
c.2060T>G (p.Met687Arg)
c.2063T>G (p.Met688Arg)
c.1787T>G (p.Met596Arg)
c.1949T>G (p.Met650Arg)
c.2045T>G (p.Met682Arg)
n.464T>G
c.2006T>G (p.Met669Arg)
c.1838T>G (p.Met613Arg)
21g.25891816A>GCA409805606APPn.2084T>C
n.514T>C
n.783T>C
c.2117T>C (p.Met706Thr)
c.1892T>C (p.Met631Thr)
c.1724T>C (p.Met575Thr)
c.2060T>C (p.Met687Thr)
c.2063T>C (p.Met688Thr)
c.1787T>C (p.Met596Thr)
c.1949T>C (p.Met650Thr)
c.2045T>C (p.Met682Thr)
n.464T>C
c.2006T>C (p.Met669Thr)
c.1838T>C (p.Met613Thr)
 dbSNP
21g.25891816A>TCA409805604APPn.2084T>A
n.514T>A
n.783T>A
c.2117T>A (p.Met706Lys)
c.1892T>A (p.Met631Lys)
c.1724T>A (p.Met575Lys)
c.2060T>A (p.Met687Lys)
c.2063T>A (p.Met688Lys)
c.1787T>A (p.Met596Lys)
c.1949T>A (p.Met650Lys)
c.2045T>A (p.Met682Lys)
n.464T>A
c.2006T>A (p.Met669Lys)
c.1838T>A (p.Met613Lys)
21g.25891817T>ACA409805607APPn.2083A>T
n.513A>T
n.782A>T
c.2116A>T (p.Met706Leu)
c.1891A>T (p.Met631Leu)
c.1723A>T (p.Met575Leu)
c.2059A>T (p.Met687Leu)
c.2062A>T (p.Met688Leu)
c.1786A>T (p.Met596Leu)
c.1948A>T (p.Met650Leu)
c.2044A>T (p.Met682Leu)
n.463A>T
c.2005A>T (p.Met669Leu)
c.1837A>T (p.Met613Leu)
21g.25891817T>CCA409805608APPn.2083A>G
n.513A>G
n.782A>G
c.2116A>G (p.Met706Val)
c.1891A>G (p.Met631Val)
c.1723A>G (p.Met575Val)
c.2059A>G (p.Met687Val)
c.2062A>G (p.Met688Val)
c.1786A>G (p.Met596Val)
c.1948A>G (p.Met650Val)
c.2044A>G (p.Met682Val)
n.463A>G
c.2005A>G (p.Met669Val)
c.1837A>G (p.Met613Val)
21g.25891817T>GCA409805609APPn.2083A>C
n.513A>C
n.782A>C
c.2116A>C (p.Met706Leu)
c.1891A>C (p.Met631Leu)
c.1723A>C (p.Met575Leu)
c.2059A>C (p.Met687Leu)
c.2062A>C (p.Met688Leu)
c.1786A>C (p.Met596Leu)
c.1948A>C (p.Met650Leu)
c.2044A>C (p.Met682Leu)
n.463A>C
c.2005A>C (p.Met669Leu)
c.1837A>C (p.Met613Leu)
 gnomAD v4
21g.25891818G>ACA9987059APPn.2082C>T
n.512C>T
n.781C>T
c.2115C>T (p.Leu705=)
c.1890C>T (p.Leu630=)
c.1722C>T (p.Leu574=)
c.2058C>T (p.Leu686=)
c.2061C>T (p.Leu687=)
c.1785C>T (p.Leu595=)
c.1947C>T (p.Leu649=)
c.2043C>T (p.Leu681=)
n.462C>T
c.2004C>T (p.Leu668=)
c.1836C>T (p.Leu612=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25891818G>CCA511686019APPn.2082C>G
n.512C>G
n.781C>G
c.2115C>G (p.Leu705=)
c.1890C>G (p.Leu630=)
c.1722C>G (p.Leu574=)
c.2058C>G (p.Leu686=)
c.2061C>G (p.Leu687=)
c.1785C>G (p.Leu595=)
c.1947C>G (p.Leu649=)
c.2043C>G (p.Leu681=)
n.462C>G
c.2004C>G (p.Leu668=)
c.1836C>G (p.Leu612=)
21g.25891818G=CA2383551632APPn.2082C=
n.512C=
n.781C=
c.2115C= (p.Leu705=)
c.1890C= (p.Leu630=)
c.1722C= (p.Leu574=)
c.2058C= (p.Leu686=)
c.2061C= (p.Leu687=)
c.1785C= (p.Leu595=)
c.1947C= (p.Leu649=)
c.2043C= (p.Leu681=)
n.462C=
c.2004C= (p.Leu668=)
c.1836C= (p.Leu612=)
21g.25891818G>TCA511686020APPn.2082C>A
n.512C>A
n.781C>A
c.2115C>A (p.Leu705=)
c.1890C>A (p.Leu630=)
c.1722C>A (p.Leu574=)
c.2058C>A (p.Leu686=)
c.2061C>A (p.Leu687=)
c.1785C>A (p.Leu595=)
c.1947C>A (p.Leu649=)
c.2043C>A (p.Leu681=)
n.462C>A
c.2004C>A (p.Leu668=)
c.1836C>A (p.Leu612=)
21g.25891819A>CCA409805610APPn.2081T>G
n.511T>G
n.780T>G
c.2114T>G (p.Leu705Arg)
c.1889T>G (p.Leu630Arg)
c.1721T>G (p.Leu574Arg)
c.2057T>G (p.Leu686Arg)
c.2060T>G (p.Leu687Arg)
c.1784T>G (p.Leu595Arg)
c.1946T>G (p.Leu649Arg)
c.2042T>G (p.Leu681Arg)
n.461T>G
c.2003T>G (p.Leu668Arg)
c.1835T>G (p.Leu612Arg)
21g.25891819A>GCA409805611APPn.2081T>C
n.511T>C
n.780T>C
c.2114T>C (p.Leu705Pro)
c.1889T>C (p.Leu630Pro)
c.1721T>C (p.Leu574Pro)
c.2057T>C (p.Leu686Pro)
c.2060T>C (p.Leu687Pro)
c.1784T>C (p.Leu595Pro)
c.1946T>C (p.Leu649Pro)
c.2042T>C (p.Leu681Pro)
n.461T>C
c.2003T>C (p.Leu668Pro)
c.1835T>C (p.Leu612Pro)
21g.25891819A>TCA409805612APPn.2081T>A
n.511T>A
n.780T>A
c.2114T>A (p.Leu705His)
c.1889T>A (p.Leu630His)
c.1721T>A (p.Leu574His)
c.2057T>A (p.Leu686His)
c.2060T>A (p.Leu687His)
c.1784T>A (p.Leu595His)
c.1946T>A (p.Leu649His)
c.2042T>A (p.Leu681His)
n.461T>A
c.2003T>A (p.Leu668His)
c.1835T>A (p.Leu612His)
21g.25891820G>ACA409805613APPn.2080C>T
n.510C>T
n.779C>T
c.2113C>T (p.Leu705Phe)
c.1888C>T (p.Leu630Phe)
c.1720C>T (p.Leu574Phe)
c.2056C>T (p.Leu686Phe)
c.2059C>T (p.Leu687Phe)
c.1783C>T (p.Leu595Phe)
c.1945C>T (p.Leu649Phe)
c.2041C>T (p.Leu681Phe)
n.460C>T
c.2002C>T (p.Leu668Phe)
c.1834C>T (p.Leu612Phe)
21g.25891820G>CCA127815APPn.2080C>G
n.510C>G
n.779C>G
c.2113C>G (p.Leu705Val)
c.1888C>G (p.Leu630Val)
c.1720C>G (p.Leu574Val)
c.2056C>G (p.Leu686Val)
c.2059C>G (p.Leu687Val)
c.1783C>G (p.Leu595Val)
c.1945C>G (p.Leu649Val)
c.2041C>G (p.Leu681Val)
n.460C>G
c.2002C>G (p.Leu668Val)
c.1834C>G (p.Leu612Val)
 ClinVar dbSNP gnomAD v4
21g.25891820G=CA2383551633APPn.2080C=
n.510C=
n.779C=
c.2113C= (p.Leu705=)
c.1888C= (p.Leu630=)
c.1720C= (p.Leu574=)
c.2056C= (p.Leu686=)
c.2059C= (p.Leu687=)
c.1783C= (p.Leu595=)
c.1945C= (p.Leu649=)
c.2041C= (p.Leu681=)
n.460C=
c.2002C= (p.Leu668=)
c.1834C= (p.Leu612=)
21g.25891820G>TCA409805614APPn.2080C>A
n.510C>A
n.779C>A
c.2113C>A (p.Leu705Ile)
c.1888C>A (p.Leu630Ile)
c.1720C>A (p.Leu574Ile)
c.2056C>A (p.Leu686Ile)
c.2059C>A (p.Leu687Ile)
c.1783C>A (p.Leu595Ile)
c.1945C>A (p.Leu649Ile)
c.2041C>A (p.Leu681Ile)
n.460C>A
c.2002C>A (p.Leu668Ile)
c.1834C>A (p.Leu612Ile)
21g.25891821T>ACA511686022APPn.2079A>T
n.509A>T
n.778A>T
c.2112A>T (p.Gly704=)
c.1887A>T (p.Gly629=)
c.1719A>T (p.Gly573=)
c.2055A>T (p.Gly685=)
c.2058A>T (p.Gly686=)
c.1782A>T (p.Gly594=)
c.1944A>T (p.Gly648=)
c.2040A>T (p.Gly680=)
n.459A>T
c.2001A>T (p.Gly667=)
c.1833A>T (p.Gly611=)
21g.25891821T>CCA511686021APPn.2079A>G
n.509A>G
n.778A>G
c.2112A>G (p.Gly704=)
c.1887A>G (p.Gly629=)
c.1719A>G (p.Gly573=)
c.2055A>G (p.Gly685=)
c.2058A>G (p.Gly686=)
c.1782A>G (p.Gly594=)
c.1944A>G (p.Gly648=)
c.2040A>G (p.Gly680=)
n.459A>G
c.2001A>G (p.Gly667=)
c.1833A>G (p.Gly611=)
21g.25891821T>GCA511686023APPn.2079A>C
n.509A>C
n.778A>C
c.2112A>C (p.Gly704=)
c.1887A>C (p.Gly629=)
c.1719A>C (p.Gly573=)
c.2055A>C (p.Gly685=)
c.2058A>C (p.Gly686=)
c.1782A>C (p.Gly594=)
c.1944A>C (p.Gly648=)
c.2040A>C (p.Gly680=)
n.459A>C
c.2001A>C (p.Gly667=)
c.1833A>C (p.Gly611=)
21g.25891822C>ACA409805615APPn.2078G>T
n.508G>T
n.777G>T
c.2111G>T (p.Gly704Val)
c.1886G>T (p.Gly629Val)
c.1718G>T (p.Gly573Val)
c.2054G>T (p.Gly685Val)
c.2057G>T (p.Gly686Val)
c.1781G>T (p.Gly594Val)
c.1943G>T (p.Gly648Val)
c.2039G>T (p.Gly680Val)
n.458G>T
c.2000G>T (p.Gly667Val)
c.1832G>T (p.Gly611Val)
21g.25891822C>GCA409805616APPn.2078G>C
n.508G>C
n.777G>C
c.2111G>C (p.Gly704Ala)
c.1886G>C (p.Gly629Ala)
c.1718G>C (p.Gly573Ala)
c.2054G>C (p.Gly685Ala)
c.2057G>C (p.Gly686Ala)
c.1781G>C (p.Gly594Ala)
c.1943G>C (p.Gly648Ala)
c.2039G>C (p.Gly680Ala)
n.458G>C
c.2000G>C (p.Gly667Ala)
c.1832G>C (p.Gly611Ala)
21g.25891822C>TCA409805617APPn.2078G>A
n.508G>A
n.777G>A
c.2111G>A (p.Gly704Glu)
c.1886G>A (p.Gly629Glu)
c.1718G>A (p.Gly573Glu)
c.2054G>A (p.Gly685Glu)
c.2057G>A (p.Gly686Glu)
c.1781G>A (p.Gly594Glu)
c.1943G>A (p.Gly648Glu)
c.2039G>A (p.Gly680Glu)
n.458G>A
c.2000G>A (p.Gly667Glu)
c.1832G>A (p.Gly611Glu)
21g.25891823C>ACA409805620APPn.2077G>T
n.507G>T
n.776G>T
c.2110G>T (p.Gly704Ter)
c.1885G>T (p.Gly629Ter)
c.1717G>T (p.Gly573Ter)
c.2053G>T (p.Gly685Ter)
c.2056G>T (p.Gly686Ter)
c.1780G>T (p.Gly594Ter)
c.1942G>T (p.Gly648Ter)
c.2038G>T (p.Gly680Ter)
n.457G>T
c.1999G>T (p.Gly667Ter)
c.1831G>T (p.Gly611Ter)
21g.25891823C>GCA409805619APPn.2077G>C
n.507G>C
n.776G>C
c.2110G>C (p.Gly704Arg)
c.1885G>C (p.Gly629Arg)
c.1717G>C (p.Gly573Arg)
c.2053G>C (p.Gly685Arg)
c.2056G>C (p.Gly686Arg)
c.1780G>C (p.Gly594Arg)
c.1942G>C (p.Gly648Arg)
c.2038G>C (p.Gly680Arg)
n.457G>C
c.1999G>C (p.Gly667Arg)
c.1831G>C (p.Gly611Arg)
21g.25891823C>TCA409805618APPn.2077G>A
n.507G>A
n.776G>A
c.2110G>A (p.Gly704Arg)
c.1885G>A (p.Gly629Arg)
c.1717G>A (p.Gly573Arg)
c.2053G>A (p.Gly685Arg)
c.2056G>A (p.Gly686Arg)
c.1780G>A (p.Gly594Arg)
c.1942G>A (p.Gly648Arg)
c.2038G>A (p.Gly680Arg)
n.457G>A
c.1999G>A (p.Gly667Arg)
c.1831G>A (p.Gly611Arg)
 COSMIC
21g.25891824A>CCA409805621APPn.2076T>G
n.506T>G
n.775T>G
c.2109T>G (p.Ile703Met)
c.1884T>G (p.Ile628Met)
c.1716T>G (p.Ile572Met)
c.2052T>G (p.Ile684Met)
c.2055T>G (p.Ile685Met)
c.1779T>G (p.Ile593Met)
c.1941T>G (p.Ile647Met)
c.2037T>G (p.Ile679Met)
n.456T>G
c.1998T>G (p.Ile666Met)
c.1830T>G (p.Ile610Met)
21g.25891824A>GCA511686024APPn.2076T>C
n.506T>C
n.775T>C
c.2109T>C (p.Ile703=)
c.1884T>C (p.Ile628=)
c.1716T>C (p.Ile572=)
c.2052T>C (p.Ile684=)
c.2055T>C (p.Ile685=)
c.1779T>C (p.Ile593=)
c.1941T>C (p.Ile647=)
c.2037T>C (p.Ile679=)
n.456T>C
c.1998T>C (p.Ile666=)
c.1830T>C (p.Ile610=)
21g.25891824A>TCA511686025APPn.2076T>A
n.506T>A
n.775T>A
c.2109T>A (p.Ile703=)
c.1884T>A (p.Ile628=)
c.1716T>A (p.Ile572=)
c.2052T>A (p.Ile684=)
c.2055T>A (p.Ile685=)
c.1779T>A (p.Ile593=)
c.1941T>A (p.Ile647=)
c.2037T>A (p.Ile679=)
n.456T>A
c.1998T>A (p.Ile666=)
c.1830T>A (p.Ile610=)
21g.25891825A>CCA409805622APPn.2075T>G
n.505T>G
n.774T>G
c.2108T>G (p.Ile703Ser)
c.1883T>G (p.Ile628Ser)
c.1715T>G (p.Ile572Ser)
c.2051T>G (p.Ile684Ser)
c.2054T>G (p.Ile685Ser)
c.1778T>G (p.Ile593Ser)
c.1940T>G (p.Ile647Ser)
c.2036T>G (p.Ile679Ser)
n.455T>G
c.1997T>G (p.Ile666Ser)
c.1829T>G (p.Ile610Ser)
21g.25891825A>GCA409805623APPn.2075T>C
n.505T>C
n.774T>C
c.2108T>C (p.Ile703Thr)
c.1883T>C (p.Ile628Thr)
c.1715T>C (p.Ile572Thr)
c.2051T>C (p.Ile684Thr)
c.2054T>C (p.Ile685Thr)
c.1778T>C (p.Ile593Thr)
c.1940T>C (p.Ile647Thr)
c.2036T>C (p.Ile679Thr)
n.455T>C
c.1997T>C (p.Ile666Thr)
c.1829T>C (p.Ile610Thr)
 gnomAD v4
21g.25891825A>TCA409805624APPn.2075T>A
n.505T>A
n.774T>A
c.2108T>A (p.Ile703Asn)
c.1883T>A (p.Ile628Asn)
c.1715T>A (p.Ile572Asn)
c.2051T>A (p.Ile684Asn)
c.2054T>A (p.Ile685Asn)
c.1778T>A (p.Ile593Asn)
c.1940T>A (p.Ile647Asn)
c.2036T>A (p.Ile679Asn)
n.455T>A
c.1997T>A (p.Ile666Asn)
c.1829T>A (p.Ile610Asn)
21g.25891826T>ACA409805625APPn.2074A>T
n.504A>T
n.773A>T
c.2107A>T (p.Ile703Phe)
c.1882A>T (p.Ile628Phe)
c.1714A>T (p.Ile572Phe)
c.2050A>T (p.Ile684Phe)
c.2053A>T (p.Ile685Phe)
c.1777A>T (p.Ile593Phe)
c.1939A>T (p.Ile647Phe)
c.2035A>T (p.Ile679Phe)
n.454A>T
c.1996A>T (p.Ile666Phe)
c.1828A>T (p.Ile610Phe)
21g.25891826T>CCA9987060APPn.2074A>G
n.504A>G
n.773A>G
c.2107A>G (p.Ile703Val)
c.1882A>G (p.Ile628Val)
c.1714A>G (p.Ile572Val)
c.2050A>G (p.Ile684Val)
c.2053A>G (p.Ile685Val)
c.1777A>G (p.Ile593Val)
c.1939A>G (p.Ile647Val)
c.2035A>G (p.Ile679Val)
n.454A>G
c.1996A>G (p.Ile666Val)
c.1828A>G (p.Ile610Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25891826T>GCA409805626APPn.2074A>C
n.504A>C
n.773A>C
c.2107A>C (p.Ile703Leu)
c.1882A>C (p.Ile628Leu)
c.1714A>C (p.Ile572Leu)
c.2050A>C (p.Ile684Leu)
c.2053A>C (p.Ile685Leu)
c.1777A>C (p.Ile593Leu)
c.1939A>C (p.Ile647Leu)
c.2035A>C (p.Ile679Leu)
n.454A>C
c.1996A>C (p.Ile666Leu)
c.1828A>C (p.Ile610Leu)
21g.25891826T=CA2383551634APPn.2074A=
n.504A=
n.773A=
c.2107A= (p.Ile703=)
c.1882A= (p.Ile628=)
c.1714A= (p.Ile572=)
c.2050A= (p.Ile684=)
c.2053A= (p.Ile685=)
c.1777A= (p.Ile593=)
c.1939A= (p.Ile647=)
c.2035A= (p.Ile679=)
n.454A=
c.1996A= (p.Ile666=)
c.1828A= (p.Ile610=)
21g.25891827G>ACA511686027APPn.2073C>T
n.503C>T
n.772C>T
c.2106C>T (p.Ile702=)
c.1881C>T (p.Ile627=)
c.1713C>T (p.Ile571=)
c.2049C>T (p.Ile683=)
c.2052C>T (p.Ile684=)
c.1776C>T (p.Ile592=)
c.1938C>T (p.Ile646=)
c.2034C>T (p.Ile678=)
n.453C>T
c.1995C>T (p.Ile665=)
c.1827C>T (p.Ile609=)
21g.25891827G>CCA409805627APPn.2073C>G
n.503C>G
n.772C>G
c.2106C>G (p.Ile702Met)
c.1881C>G (p.Ile627Met)
c.1713C>G (p.Ile571Met)
c.2049C>G (p.Ile683Met)
c.2052C>G (p.Ile684Met)
c.1776C>G (p.Ile592Met)
c.1938C>G (p.Ile646Met)
c.2034C>G (p.Ile678Met)
n.453C>G
c.1995C>G (p.Ile665Met)
c.1827C>G (p.Ile609Met)
 ClinVar gnomAD v4
21g.25891827G>TCA511686026APPn.2073C>A
n.503C>A
n.772C>A
c.2106C>A (p.Ile702=)
c.1881C>A (p.Ile627=)
c.1713C>A (p.Ile571=)
c.2049C>A (p.Ile683=)
c.2052C>A (p.Ile684=)
c.1776C>A (p.Ile592=)
c.1938C>A (p.Ile646=)
c.2034C>A (p.Ile678=)
n.453C>A
c.1995C>A (p.Ile665=)
c.1827C>A (p.Ile609=)
21g.25891828A>CCA409805628APPn.2072T>G
n.502T>G
n.771T>G
c.2105T>G (p.Ile702Ser)
c.1880T>G (p.Ile627Ser)
c.1712T>G (p.Ile571Ser)
c.2048T>G (p.Ile683Ser)
c.2051T>G (p.Ile684Ser)
c.1775T>G (p.Ile592Ser)
c.1937T>G (p.Ile646Ser)
c.2033T>G (p.Ile678Ser)
n.452T>G
c.1994T>G (p.Ile665Ser)
c.1826T>G (p.Ile609Ser)
21g.25891828A>GCA409805629APPn.2072T>C
n.502T>C
n.771T>C
c.2105T>C (p.Ile702Thr)
c.1880T>C (p.Ile627Thr)
c.1712T>C (p.Ile571Thr)
c.2048T>C (p.Ile683Thr)
c.2051T>C (p.Ile684Thr)
c.1775T>C (p.Ile592Thr)
c.1937T>C (p.Ile646Thr)
c.2033T>C (p.Ile678Thr)
n.452T>C
c.1994T>C (p.Ile665Thr)
c.1826T>C (p.Ile609Thr)
21g.25891828A>TCA409805630APPn.2072T>A
n.502T>A
n.771T>A
c.2105T>A (p.Ile702Asn)
c.1880T>A (p.Ile627Asn)
c.1712T>A (p.Ile571Asn)
c.2048T>A (p.Ile683Asn)
c.2051T>A (p.Ile684Asn)
c.1775T>A (p.Ile592Asn)
c.1937T>A (p.Ile646Asn)
c.2033T>A (p.Ile678Asn)
n.452T>A
c.1994T>A (p.Ile665Asn)
c.1826T>A (p.Ile609Asn)
21g.25891829_25891833dupCA2654122471APPn.2068_2072dup
n.498_502dup
n.767_771dup
c.2101_2105dup (p.Ile702MetfsTer13)
c.1876_1880dup (p.Ile627MetfsTer13)
c.1708_1712dup (p.Ile571MetfsTer13)
c.2044_2048dup (p.Ile683MetfsTer13)
c.2047_2051dup (p.Ile684MetfsTer13)
c.1771_1775dup (p.Ile592MetfsTer13)
c.1933_1937dup (p.Ile646MetfsTer13)
c.2029_2033dup (p.Ile678MetfsTer13)
n.448_452dup
c.1990_1994dup (p.Ile665MetfsTer13)
c.1822_1826dup (p.Ile609MetfsTer13)
 gnomAD v4
21g.25891829T>ACA409805631APPn.2071A>T
n.501A>T
n.770A>T
c.2104A>T (p.Ile702Phe)
c.1879A>T (p.Ile627Phe)
c.1711A>T (p.Ile571Phe)
c.2047A>T (p.Ile683Phe)
c.2050A>T (p.Ile684Phe)
c.1774A>T (p.Ile592Phe)
c.1936A>T (p.Ile646Phe)
c.2032A>T (p.Ile678Phe)
n.451A>T
c.1993A>T (p.Ile665Phe)
c.1825A>T (p.Ile609Phe)
21g.25891829T>CCA9987061APPn.2071A>G
n.501A>G
n.770A>G
c.2104A>G (p.Ile702Val)
c.1879A>G (p.Ile627Val)
c.1711A>G (p.Ile571Val)
c.2047A>G (p.Ile683Val)
c.2050A>G (p.Ile684Val)
c.1774A>G (p.Ile592Val)
c.1936A>G (p.Ile646Val)
c.2032A>G (p.Ile678Val)
n.451A>G
c.1993A>G (p.Ile665Val)
c.1825A>G (p.Ile609Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25891829T>GCA409805632APPn.2071A>C
n.501A>C
n.770A>C
c.2104A>C (p.Ile702Leu)
c.1879A>C (p.Ile627Leu)
c.1711A>C (p.Ile571Leu)
c.2047A>C (p.Ile683Leu)
c.2050A>C (p.Ile684Leu)
c.1774A>C (p.Ile592Leu)
c.1936A>C (p.Ile646Leu)
c.2032A>C (p.Ile678Leu)
n.451A>C
c.1993A>C (p.Ile665Leu)
c.1825A>C (p.Ile609Leu)
21g.25891829T=CA2383551635APPn.2071A=
n.501A=
n.770A=
c.2104A= (p.Ile702=)
c.1879A= (p.Ile627=)
c.1711A= (p.Ile571=)
c.2047A= (p.Ile683=)
c.2050A= (p.Ile684=)
c.1774A= (p.Ile592=)
c.1936A= (p.Ile646=)
c.2032A= (p.Ile678=)
n.451A=
c.1993A= (p.Ile665=)
c.1825A= (p.Ile609=)
21g.25891830T>ACA511686030APPn.2070A>T
n.500A>T
n.769A>T
c.2103A>T (p.Ala701=)
c.1878A>T (p.Ala626=)
c.1710A>T (p.Ala570=)
c.2046A>T (p.Ala682=)
c.2049A>T (p.Ala683=)
c.1773A>T (p.Ala591=)
c.1935A>T (p.Ala645=)
c.2031A>T (p.Ala677=)
n.450A>T
c.1992A>T (p.Ala664=)
c.1824A>T (p.Ala608=)
21g.25891830T>CCA511686028APPn.2070A>G
n.500A>G
n.769A>G
c.2103A>G (p.Ala701=)
c.1878A>G (p.Ala626=)
c.1710A>G (p.Ala570=)
c.2046A>G (p.Ala682=)
c.2049A>G (p.Ala683=)
c.1773A>G (p.Ala591=)
c.1935A>G (p.Ala645=)
c.2031A>G (p.Ala677=)
n.450A>G
c.1992A>G (p.Ala664=)
c.1824A>G (p.Ala608=)
21g.25891830T>GCA511686029APPn.2070A>C
n.500A>C
n.769A>C
c.2103A>C (p.Ala701=)
c.1878A>C (p.Ala626=)
c.1710A>C (p.Ala570=)
c.2046A>C (p.Ala682=)
c.2049A>C (p.Ala683=)
c.1773A>C (p.Ala591=)
c.1935A>C (p.Ala645=)
c.2031A>C (p.Ala677=)
n.450A>C
c.1992A>C (p.Ala664=)
c.1824A>C (p.Ala608=)
 dbSNP
21g.25891830T=CA2383551636APPn.2070A=
n.500A=
n.769A=
c.2103A= (p.Ala701=)
c.1878A= (p.Ala626=)
c.1710A= (p.Ala570=)
c.2046A= (p.Ala682=)
c.2049A= (p.Ala683=)
c.1773A= (p.Ala591=)
c.1935A= (p.Ala645=)
c.2031A= (p.Ala677=)
n.450A=
c.1992A= (p.Ala664=)
c.1824A= (p.Ala608=)
21g.25891831G>ACA409805634APPn.2069C>T
n.499C>T
n.768C>T
c.2102C>T (p.Ala701Val)
c.1877C>T (p.Ala626Val)
c.1709C>T (p.Ala570Val)
c.2045C>T (p.Ala682Val)
c.2048C>T (p.Ala683Val)
c.1772C>T (p.Ala591Val)
c.1934C>T (p.Ala645Val)
c.2030C>T (p.Ala677Val)
n.449C>T
c.1991C>T (p.Ala664Val)
c.1823C>T (p.Ala608Val)
 COSMIC
21g.25891831G>CCA409805635APPn.2069C>G
n.499C>G
n.768C>G
c.2102C>G (p.Ala701Gly)
c.1877C>G (p.Ala626Gly)
c.1709C>G (p.Ala570Gly)
c.2045C>G (p.Ala682Gly)
c.2048C>G (p.Ala683Gly)
c.1772C>G (p.Ala591Gly)
c.1934C>G (p.Ala645Gly)
c.2030C>G (p.Ala677Gly)
n.449C>G
c.1991C>G (p.Ala664Gly)
c.1823C>G (p.Ala608Gly)
21g.25891831G>TCA409805633APPn.2069C>A
n.499C>A
n.768C>A
c.2102C>A (p.Ala701Glu)
c.1877C>A (p.Ala626Glu)
c.1709C>A (p.Ala570Glu)
c.2045C>A (p.Ala682Glu)
c.2048C>A (p.Ala683Glu)
c.1772C>A (p.Ala591Glu)
c.1934C>A (p.Ala645Glu)
c.2030C>A (p.Ala677Glu)
n.449C>A
c.1991C>A (p.Ala664Glu)
c.1823C>A (p.Ala608Glu)
 gnomAD v4
21g.25891832C>ACA409805636APPn.2068G>T
n.498G>T
n.767G>T
c.2101G>T (p.Ala701Ser)
c.1876G>T (p.Ala626Ser)
c.1708G>T (p.Ala570Ser)
c.2044G>T (p.Ala682Ser)
c.2047G>T (p.Ala683Ser)
c.1771G>T (p.Ala591Ser)
c.1933G>T (p.Ala645Ser)
c.2029G>T (p.Ala677Ser)
n.448G>T
c.1990G>T (p.Ala664Ser)
c.1822G>T (p.Ala608Ser)
21g.25891832C>GCA409805637APPn.2068G>C
n.498G>C
n.767G>C
c.2101G>C (p.Ala701Pro)
c.1876G>C (p.Ala626Pro)
c.1708G>C (p.Ala570Pro)
c.2044G>C (p.Ala682Pro)
c.2047G>C (p.Ala683Pro)
c.1771G>C (p.Ala591Pro)
c.1933G>C (p.Ala645Pro)
c.2029G>C (p.Ala677Pro)
n.448G>C
c.1990G>C (p.Ala664Pro)
c.1822G>C (p.Ala608Pro)
21g.25891832C>TCA409805638APPn.2068G>A
n.498G>A
n.767G>A
c.2101G>A (p.Ala701Thr)
c.1876G>A (p.Ala626Thr)
c.1708G>A (p.Ala570Thr)
c.2044G>A (p.Ala682Thr)
c.2047G>A (p.Ala683Thr)
c.1771G>A (p.Ala591Thr)
c.1933G>A (p.Ala645Thr)
c.2029G>A (p.Ala677Thr)
n.448G>A
c.1990G>A (p.Ala664Thr)
c.1822G>A (p.Ala608Thr)
 gnomAD v4

Number of alleles fetched