Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.25897524_25897570delCA2654123141APPn.2031+5_2031+51del
n.461+5_461+51del
n.730+5_730+51del
c.2064+5_2064+51del (n.2064+5_2064+51del)
c.1839+5_1839+51del (n.1839+5_1839+51del)
c.1671+5_1671+51del (n.1671+5_1671+51del)
c.2007+5_2007+51del (n.2007+5_2007+51del)
c.2010+5_2010+51del (n.2010+5_2010+51del)
c.1734+5_1734+51del (n.1734+5_1734+51del)
c.1896+5_1896+51del (n.1896+5_1896+51del)
c.1992+5_1992+51del (n.1992+5_1992+51del)
n.411+5_411+51del
c.1953+5_1953+51del (n.1953+5_1953+51del)
c.1785+5_1785+51del (n.1785+5_1785+51del)
 gnomAD v4
21g.25897562A=CA2383554895APPn.2031+11T=
n.461+11T=
n.730+11T=
c.2064+11T= (n.2064+11T=)
c.1839+11T= (n.1839+11T=)
c.1671+11T= (n.1671+11T=)
c.2007+11T= (n.2007+11T=)
c.2010+11T= (n.2010+11T=)
c.1734+11T= (n.1734+11T=)
c.1896+11T= (n.1896+11T=)
c.1992+11T= (n.1992+11T=)
n.411+11T=
c.1953+11T= (n.1953+11T=)
c.1785+11T= (n.1785+11T=)
21g.25897562A>GCA319103295APPn.2031+11T>C
n.461+11T>C
n.730+11T>C
c.2064+11T>C (n.2064+11T>C)
c.1839+11T>C (n.1839+11T>C)
c.1671+11T>C (n.1671+11T>C)
c.2007+11T>C (n.2007+11T>C)
c.2010+11T>C (n.2010+11T>C)
c.1734+11T>C (n.1734+11T>C)
c.1896+11T>C (n.1896+11T>C)
c.1992+11T>C (n.1992+11T>C)
n.411+11T>C
c.1953+11T>C (n.1953+11T>C)
c.1785+11T>C (n.1785+11T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.25897563T>ACA9987083APPn.2031+10A>T
n.461+10A>T
n.730+10A>T
c.2064+10A>T (n.2064+10A>T)
c.1839+10A>T (n.1839+10A>T)
c.1671+10A>T (n.1671+10A>T)
c.2007+10A>T (n.2007+10A>T)
c.2010+10A>T (n.2010+10A>T)
c.1734+10A>T (n.1734+10A>T)
c.1896+10A>T (n.1896+10A>T)
c.1992+10A>T (n.1992+10A>T)
n.411+10A>T
c.1953+10A>T (n.1953+10A>T)
c.1785+10A>T (n.1785+10A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897563T>GCA637163675APPn.2031+10A>C
n.461+10A>C
n.730+10A>C
c.2064+10A>C (n.2064+10A>C)
c.1839+10A>C (n.1839+10A>C)
c.1671+10A>C (n.1671+10A>C)
c.2007+10A>C (n.2007+10A>C)
c.2010+10A>C (n.2010+10A>C)
c.1734+10A>C (n.1734+10A>C)
c.1896+10A>C (n.1896+10A>C)
c.1992+10A>C (n.1992+10A>C)
n.411+10A>C
c.1953+10A>C (n.1953+10A>C)
c.1785+10A>C (n.1785+10A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.25897563T=CA2383554896APPn.2031+10A=
n.461+10A=
n.730+10A=
c.2064+10A= (n.2064+10A=)
c.1839+10A= (n.1839+10A=)
c.1671+10A= (n.1671+10A=)
c.2007+10A= (n.2007+10A=)
c.2010+10A= (n.2010+10A=)
c.1734+10A= (n.1734+10A=)
c.1896+10A= (n.1896+10A=)
c.1992+10A= (n.1992+10A=)
n.411+10A=
c.1953+10A= (n.1953+10A=)
c.1785+10A= (n.1785+10A=)
21g.25897566T>CCA9987084APPn.2031+7A>G
n.461+7A>G
n.730+7A>G
c.2064+7A>G (n.2064+7A>G)
c.1839+7A>G (n.1839+7A>G)
c.1671+7A>G (n.1671+7A>G)
c.2007+7A>G (n.2007+7A>G)
c.2010+7A>G (n.2010+7A>G)
c.1734+7A>G (n.1734+7A>G)
c.1896+7A>G (n.1896+7A>G)
c.1992+7A>G (n.1992+7A>G)
n.411+7A>G
c.1953+7A>G (n.1953+7A>G)
c.1785+7A>G (n.1785+7A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.25897566T>GCA2654123262APPn.2031+7A>C
n.461+7A>C
n.730+7A>C
c.2064+7A>C (n.2064+7A>C)
c.1839+7A>C (n.1839+7A>C)
c.1671+7A>C (n.1671+7A>C)
c.2007+7A>C (n.2007+7A>C)
c.2010+7A>C (n.2010+7A>C)
c.1734+7A>C (n.1734+7A>C)
c.1896+7A>C (n.1896+7A>C)
c.1992+7A>C (n.1992+7A>C)
n.411+7A>C
c.1953+7A>C (n.1953+7A>C)
c.1785+7A>C (n.1785+7A>C)
 gnomAD v4
21g.25897566T=CA2383554897APPn.2031+7A=
n.461+7A=
n.730+7A=
c.2064+7A= (n.2064+7A=)
c.1839+7A= (n.1839+7A=)
c.1671+7A= (n.1671+7A=)
c.2007+7A= (n.2007+7A=)
c.2010+7A= (n.2010+7A=)
c.1734+7A= (n.1734+7A=)
c.1896+7A= (n.1896+7A=)
c.1992+7A= (n.1992+7A=)
n.411+7A=
c.1953+7A= (n.1953+7A=)
c.1785+7A= (n.1785+7A=)
21g.25897569_25897572delCA2654123266APPn.2031+4_2031+7del
n.461+4_461+7del
n.730+4_730+7del
c.2064+4_2064+7del (n.2064+4_2064+7del)
c.1839+4_1839+7del (n.1839+4_1839+7del)
c.1671+4_1671+7del (n.1671+4_1671+7del)
c.2007+4_2007+7del (n.2007+4_2007+7del)
c.2010+4_2010+7del (n.2010+4_2010+7del)
c.1734+4_1734+7del (n.1734+4_1734+7del)
c.1896+4_1896+7del (n.1896+4_1896+7del)
c.1992+4_1992+7del (n.1992+4_1992+7del)
n.411+4_411+7del
c.1953+4_1953+7del (n.1953+4_1953+7del)
c.1785+4_1785+7del (n.1785+4_1785+7del)
 gnomAD v4
21g.25897568C=CA2383554898APPn.2031+5G=
n.461+5G=
n.730+5G=
c.2064+5G= (n.2064+5G=)
c.1839+5G= (n.1839+5G=)
c.1671+5G= (n.1671+5G=)
c.2007+5G= (n.2007+5G=)
c.2010+5G= (n.2010+5G=)
c.1734+5G= (n.1734+5G=)
c.1896+5G= (n.1896+5G=)
c.1992+5G= (n.1992+5G=)
n.411+5G=
c.1953+5G= (n.1953+5G=)
c.1785+5G= (n.1785+5G=)
21g.25897568C>TCA9987085APPn.2031+5G>A
n.461+5G>A
n.730+5G>A
c.2064+5G>A (n.2064+5G>A)
c.1839+5G>A (n.1839+5G>A)
c.1671+5G>A (n.1671+5G>A)
c.2007+5G>A (n.2007+5G>A)
c.2010+5G>A (n.2010+5G>A)
c.1734+5G>A (n.1734+5G>A)
c.1896+5G>A (n.1896+5G>A)
c.1992+5G>A (n.1992+5G>A)
n.411+5G>A
c.1953+5G>A (n.1953+5G>A)
c.1785+5G>A (n.1785+5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897569G>ACA9987086APPn.2031+4C>T
n.461+4C>T
n.730+4C>T
c.2064+4C>T (n.2064+4C>T)
c.1839+4C>T (n.1839+4C>T)
c.1671+4C>T (n.1671+4C>T)
c.2007+4C>T (n.2007+4C>T)
c.2010+4C>T (n.2010+4C>T)
c.1734+4C>T (n.1734+4C>T)
c.1896+4C>T (n.1896+4C>T)
c.1992+4C>T (n.1992+4C>T)
n.411+4C>T
c.1953+4C>T (n.1953+4C>T)
c.1785+4C>T (n.1785+4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897569G=CA2383554899APPn.2031+4C=
n.461+4C=
n.730+4C=
c.2064+4C= (n.2064+4C=)
c.1839+4C= (n.1839+4C=)
c.1671+4C= (n.1671+4C=)
c.2007+4C= (n.2007+4C=)
c.2010+4C= (n.2010+4C=)
c.1734+4C= (n.1734+4C=)
c.1896+4C= (n.1896+4C=)
c.1992+4C= (n.1992+4C=)
n.411+4C=
c.1953+4C= (n.1953+4C=)
c.1785+4C= (n.1785+4C=)
21g.25897569G>TCA637163678APPn.2031+4C>A
n.461+4C>A
n.730+4C>A
c.2064+4C>A (n.2064+4C>A)
c.1839+4C>A (n.1839+4C>A)
c.1671+4C>A (n.1671+4C>A)
c.2007+4C>A (n.2007+4C>A)
c.2010+4C>A (n.2010+4C>A)
c.1734+4C>A (n.1734+4C>A)
c.1896+4C>A (n.1896+4C>A)
c.1992+4C>A (n.1992+4C>A)
n.411+4C>A
c.1953+4C>A (n.1953+4C>A)
c.1785+4C>A (n.1785+4C>A)
 dbSNP gnomAD v2 gnomAD v4
21g.25897571A>CCA409806197APPn.2031+2T>G
n.461+2T>G
n.730+2T>G
c.2064+2T>G (n.2064+2T>G)
c.1839+2T>G (n.1839+2T>G)
c.1671+2T>G (n.1671+2T>G)
c.2007+2T>G (n.2007+2T>G)
c.2010+2T>G (n.2010+2T>G)
c.1734+2T>G (n.1734+2T>G)
c.1896+2T>G (n.1896+2T>G)
c.1992+2T>G (n.1992+2T>G)
n.411+2T>G
c.1953+2T>G (n.1953+2T>G)
c.1785+2T>G (n.1785+2T>G)
21g.25897571A>GCA409806198APPn.2031+2T>C
n.461+2T>C
n.730+2T>C
c.2064+2T>C (n.2064+2T>C)
c.1839+2T>C (n.1839+2T>C)
c.1671+2T>C (n.1671+2T>C)
c.2007+2T>C (n.2007+2T>C)
c.2010+2T>C (n.2010+2T>C)
c.1734+2T>C (n.1734+2T>C)
c.1896+2T>C (n.1896+2T>C)
c.1992+2T>C (n.1992+2T>C)
n.411+2T>C
c.1953+2T>C (n.1953+2T>C)
c.1785+2T>C (n.1785+2T>C)
21g.25897571A>TCA409806199APPn.2031+2T>A
n.461+2T>A
n.730+2T>A
c.2064+2T>A (n.2064+2T>A)
c.1839+2T>A (n.1839+2T>A)
c.1671+2T>A (n.1671+2T>A)
c.2007+2T>A (n.2007+2T>A)
c.2010+2T>A (n.2010+2T>A)
c.1734+2T>A (n.1734+2T>A)
c.1896+2T>A (n.1896+2T>A)
c.1992+2T>A (n.1992+2T>A)
n.411+2T>A
c.1953+2T>A (n.1953+2T>A)
c.1785+2T>A (n.1785+2T>A)
21g.25897572C>ACA409806202APPn.2031+1G>T
n.461+1G>T
n.730+1G>T
c.2064+1G>T (n.2064+1G>T)
c.1839+1G>T (n.1839+1G>T)
c.1671+1G>T (n.1671+1G>T)
c.2007+1G>T (n.2007+1G>T)
c.2010+1G>T (n.2010+1G>T)
c.1734+1G>T (n.1734+1G>T)
c.1896+1G>T (n.1896+1G>T)
c.1992+1G>T (n.1992+1G>T)
n.411+1G>T
c.1953+1G>T (n.1953+1G>T)
c.1785+1G>T (n.1785+1G>T)
21g.25897572C>GCA409806205APPn.2031+1G>C
n.461+1G>C
n.730+1G>C
c.2064+1G>C (n.2064+1G>C)
c.1839+1G>C (n.1839+1G>C)
c.1671+1G>C (n.1671+1G>C)
c.2007+1G>C (n.2007+1G>C)
c.2010+1G>C (n.2010+1G>C)
c.1734+1G>C (n.1734+1G>C)
c.1896+1G>C (n.1896+1G>C)
c.1992+1G>C (n.1992+1G>C)
n.411+1G>C
c.1953+1G>C (n.1953+1G>C)
c.1785+1G>C (n.1785+1G>C)
21g.25897572C>TCA409806203APPn.2031+1G>A
n.461+1G>A
n.730+1G>A
c.2064+1G>A (n.2064+1G>A)
c.1839+1G>A (n.1839+1G>A)
c.1671+1G>A (n.1671+1G>A)
c.2007+1G>A (n.2007+1G>A)
c.2010+1G>A (n.2010+1G>A)
c.1734+1G>A (n.1734+1G>A)
c.1896+1G>A (n.1896+1G>A)
c.1992+1G>A (n.1992+1G>A)
n.411+1G>A
c.1953+1G>A (n.1953+1G>A)
c.1785+1G>A (n.1785+1G>A)
21g.25897573C>ACA409806207APPn.2031G>T
n.461G>T
n.730G>T
c.2064G>T (p.Leu688Phe)
c.1839G>T (p.Leu613Phe)
c.1671G>T (p.Leu557Phe)
c.2007G>T (p.Leu669Phe)
c.2010G>T (p.Leu670Phe)
c.1734G>T (p.Leu578Phe)
c.1896G>T (p.Leu632Phe)
c.1992G>T (p.Leu664Phe)
n.411G>T
c.1953G>T (p.Leu651Phe)
c.1785G>T (p.Leu595Phe)
 gnomAD v4
21g.25897573C>GCA409806208APPn.2031G>C
n.461G>C
n.730G>C
c.2064G>C (p.Leu688Phe)
c.1839G>C (p.Leu613Phe)
c.1671G>C (p.Leu557Phe)
c.2007G>C (p.Leu669Phe)
c.2010G>C (p.Leu670Phe)
c.1734G>C (p.Leu578Phe)
c.1896G>C (p.Leu632Phe)
c.1992G>C (p.Leu664Phe)
n.411G>C
c.1953G>C (p.Leu651Phe)
c.1785G>C (p.Leu595Phe)
21g.25897573C>TCA511686133APPn.2031G>A
n.461G>A
n.730G>A
c.2064G>A (p.Leu688=)
c.1839G>A (p.Leu613=)
c.1671G>A (p.Leu557=)
c.2007G>A (p.Leu669=)
c.2010G>A (p.Leu670=)
c.1734G>A (p.Leu578=)
c.1896G>A (p.Leu632=)
c.1992G>A (p.Leu664=)
n.411G>A
c.1953G>A (p.Leu651=)
c.1785G>A (p.Leu595=)
21g.25897574A>CCA409806210APPn.2030T>G
n.460T>G
n.729T>G
c.2063T>G (p.Leu688Trp)
c.1838T>G (p.Leu613Trp)
c.1670T>G (p.Leu557Trp)
c.2006T>G (p.Leu669Trp)
c.2009T>G (p.Leu670Trp)
c.1733T>G (p.Leu578Trp)
c.1895T>G (p.Leu632Trp)
c.1991T>G (p.Leu664Trp)
n.410T>G
c.1952T>G (p.Leu651Trp)
c.1784T>G (p.Leu595Trp)
21g.25897574A>GCA409806212APPn.2030T>C
n.460T>C
n.729T>C
c.2063T>C (p.Leu688Ser)
c.1838T>C (p.Leu613Ser)
c.1670T>C (p.Leu557Ser)
c.2006T>C (p.Leu669Ser)
c.2009T>C (p.Leu670Ser)
c.1733T>C (p.Leu578Ser)
c.1895T>C (p.Leu632Ser)
c.1991T>C (p.Leu664Ser)
n.410T>C
c.1952T>C (p.Leu651Ser)
c.1784T>C (p.Leu595Ser)
21g.25897574A>TCA409806214APPn.2030T>A
n.460T>A
n.729T>A
c.2063T>A (p.Leu688Ter)
c.1838T>A (p.Leu613Ter)
c.1670T>A (p.Leu557Ter)
c.2006T>A (p.Leu669Ter)
c.2009T>A (p.Leu670Ter)
c.1733T>A (p.Leu578Ter)
c.1895T>A (p.Leu632Ter)
c.1991T>A (p.Leu664Ter)
n.410T>A
c.1952T>A (p.Leu651Ter)
c.1784T>A (p.Leu595Ter)
21g.25897575A=CA2383554900APPn.2029T=
n.459T=
n.728T=
c.2062T= (p.Leu688=)
c.1837T= (p.Leu613=)
c.1669T= (p.Leu557=)
c.2005T= (p.Leu669=)
c.2008T= (p.Leu670=)
c.1732T= (p.Leu578=)
c.1894T= (p.Leu632=)
c.1990T= (p.Leu664=)
n.409T=
c.1951T= (p.Leu651=)
c.1783T= (p.Leu595=)
21g.25897575A>CCA409806217APPn.2029T>G
n.459T>G
n.728T>G
c.2062T>G (p.Leu688Val)
c.1837T>G (p.Leu613Val)
c.1669T>G (p.Leu557Val)
c.2005T>G (p.Leu669Val)
c.2008T>G (p.Leu670Val)
c.1732T>G (p.Leu578Val)
c.1894T>G (p.Leu632Val)
c.1990T>G (p.Leu664Val)
n.409T>G
c.1951T>G (p.Leu651Val)
c.1783T>G (p.Leu595Val)
 ClinVar dbSNP
21g.25897575A>GCA511686135APPn.2029T>C
n.459T>C
n.728T>C
c.2062T>C (p.Leu688=)
c.1837T>C (p.Leu613=)
c.1669T>C (p.Leu557=)
c.2005T>C (p.Leu669=)
c.2008T>C (p.Leu670=)
c.1732T>C (p.Leu578=)
c.1894T>C (p.Leu632=)
c.1990T>C (p.Leu664=)
n.409T>C
c.1951T>C (p.Leu651=)
c.1783T>C (p.Leu595=)
 dbSNP gnomAD v4
21g.25897575A>TCA409806218APPn.2029T>A
n.459T>A
n.728T>A
c.2062T>A (p.Leu688Met)
c.1837T>A (p.Leu613Met)
c.1669T>A (p.Leu557Met)
c.2005T>A (p.Leu669Met)
c.2008T>A (p.Leu670Met)
c.1732T>A (p.Leu578Met)
c.1894T>A (p.Leu632Met)
c.1990T>A (p.Leu664Met)
n.409T>A
c.1951T>A (p.Leu651Met)
c.1783T>A (p.Leu595Met)
21g.25897576T>ACA409806220APPn.2028A>T
n.458A>T
n.727A>T
c.2061A>T (p.Lys687Asn)
c.1836A>T (p.Lys612Asn)
c.1668A>T (p.Lys556Asn)
c.2004A>T (p.Lys668Asn)
c.2007A>T (p.Lys669Asn)
c.1731A>T (p.Lys577Asn)
c.1893A>T (p.Lys631Asn)
c.1989A>T (p.Lys663Asn)
n.408A>T
c.1950A>T (p.Lys650Asn)
c.1782A>T (p.Lys594Asn)
21g.25897576T>CCA319103367APPn.2028A>G
n.458A>G
n.727A>G
c.2061A>G (p.Lys687=)
c.1836A>G (p.Lys612=)
c.1668A>G (p.Lys556=)
c.2004A>G (p.Lys668=)
c.2007A>G (p.Lys669=)
c.1731A>G (p.Lys577=)
c.1893A>G (p.Lys631=)
c.1989A>G (p.Lys663=)
n.408A>G
c.1950A>G (p.Lys650=)
c.1782A>G (p.Lys594=)
 dbSNP gnomAD v4
21g.25897576T>GCA409806222APPn.2028A>C
n.458A>C
n.727A>C
c.2061A>C (p.Lys687Asn)
c.1836A>C (p.Lys612Asn)
c.1668A>C (p.Lys556Asn)
c.2004A>C (p.Lys668Asn)
c.2007A>C (p.Lys669Asn)
c.1731A>C (p.Lys577Asn)
c.1893A>C (p.Lys631Asn)
c.1989A>C (p.Lys663Asn)
n.408A>C
c.1950A>C (p.Lys650Asn)
c.1782A>C (p.Lys594Asn)
 ClinVar
21g.25897576T=CA2383554901APPn.2028A=
n.458A=
n.727A=
c.2061A= (p.Lys687=)
c.1836A= (p.Lys612=)
c.1668A= (p.Lys556=)
c.2004A= (p.Lys668=)
c.2007A= (p.Lys669=)
c.1731A= (p.Lys577=)
c.1893A= (p.Lys631=)
c.1989A= (p.Lys663=)
n.408A=
c.1950A= (p.Lys650=)
c.1782A= (p.Lys594=)
21g.25897577T>ACA409806228APPn.2027A>T
n.457A>T
n.726A>T
c.2060A>T (p.Lys687Ile)
c.1835A>T (p.Lys612Ile)
c.1667A>T (p.Lys556Ile)
c.2003A>T (p.Lys668Ile)
c.2006A>T (p.Lys669Ile)
c.1730A>T (p.Lys577Ile)
c.1892A>T (p.Lys631Ile)
c.1988A>T (p.Lys663Ile)
n.407A>T
c.1949A>T (p.Lys650Ile)
c.1781A>T (p.Lys594Ile)
21g.25897577T>CCA409806227APPn.2027A>G
n.457A>G
n.726A>G
c.2060A>G (p.Lys687Arg)
c.1835A>G (p.Lys612Arg)
c.1667A>G (p.Lys556Arg)
c.2003A>G (p.Lys668Arg)
c.2006A>G (p.Lys669Arg)
c.1730A>G (p.Lys577Arg)
c.1892A>G (p.Lys631Arg)
c.1988A>G (p.Lys663Arg)
n.407A>G
c.1949A>G (p.Lys650Arg)
c.1781A>G (p.Lys594Arg)
 dbSNP gnomAD v3 gnomAD v4
21g.25897577T>GCA409806225APPn.2027A>C
n.457A>C
n.726A>C
c.2060A>C (p.Lys687Thr)
c.1835A>C (p.Lys612Thr)
c.1667A>C (p.Lys556Thr)
c.2003A>C (p.Lys668Thr)
c.2006A>C (p.Lys669Thr)
c.1730A>C (p.Lys577Thr)
c.1892A>C (p.Lys631Thr)
c.1988A>C (p.Lys663Thr)
n.407A>C
c.1949A>C (p.Lys650Thr)
c.1781A>C (p.Lys594Thr)
21g.25897577T=CA2383554902APPn.2027A=
n.457A=
n.726A=
c.2060A= (p.Lys687=)
c.1835A= (p.Lys612=)
c.1667A= (p.Lys556=)
c.2003A= (p.Lys668=)
c.2006A= (p.Lys669=)
c.1730A= (p.Lys577=)
c.1892A= (p.Lys631=)
c.1988A= (p.Lys663=)
n.407A=
c.1949A= (p.Lys650=)
c.1781A= (p.Lys594=)
21g.25897578T>ACA409806231APPn.2026A>T
n.456A>T
n.725A>T
c.2059A>T (p.Lys687Ter)
c.1834A>T (p.Lys612Ter)
c.1666A>T (p.Lys556Ter)
c.2002A>T (p.Lys668Ter)
c.2005A>T (p.Lys669Ter)
c.1729A>T (p.Lys577Ter)
c.1891A>T (p.Lys631Ter)
c.1987A>T (p.Lys663Ter)
n.406A>T
c.1948A>T (p.Lys650Ter)
c.1780A>T (p.Lys594Ter)
21g.25897578T>CCA409806233APPn.2026A>G
n.456A>G
n.725A>G
c.2059A>G (p.Lys687Glu)
c.1834A>G (p.Lys612Glu)
c.1666A>G (p.Lys556Glu)
c.2002A>G (p.Lys668Glu)
c.2005A>G (p.Lys669Glu)
c.1729A>G (p.Lys577Glu)
c.1891A>G (p.Lys631Glu)
c.1987A>G (p.Lys663Glu)
n.406A>G
c.1948A>G (p.Lys650Glu)
c.1780A>G (p.Lys594Glu)
21g.25897578T>GCA409806235APPn.2026A>C
n.456A>C
n.725A>C
c.2059A>C (p.Lys687Gln)
c.1834A>C (p.Lys612Gln)
c.1666A>C (p.Lys556Gln)
c.2002A>C (p.Lys668Gln)
c.2005A>C (p.Lys669Gln)
c.1729A>C (p.Lys577Gln)
c.1891A>C (p.Lys631Gln)
c.1987A>C (p.Lys663Gln)
n.406A>C
c.1948A>C (p.Lys650Gln)
c.1780A>C (p.Lys594Gln)
21g.25897579T>ACA409806237APPn.2025A>T
n.455A>T
n.724A>T
c.2058A>T (p.Gln686His)
c.1833A>T (p.Gln611His)
c.1665A>T (p.Gln555His)
c.2001A>T (p.Gln667His)
c.2004A>T (p.Gln668His)
c.1728A>T (p.Gln576His)
c.1890A>T (p.Gln630His)
c.1986A>T (p.Gln662His)
n.405A>T
c.1947A>T (p.Gln649His)
c.1779A>T (p.Gln593His)
 COSMIC
21g.25897579T>CCA511686138APPn.2025A>G
n.455A>G
n.724A>G
c.2058A>G (p.Gln686=)
c.1833A>G (p.Gln611=)
c.1665A>G (p.Gln555=)
c.2001A>G (p.Gln667=)
c.2004A>G (p.Gln668=)
c.1728A>G (p.Gln576=)
c.1890A>G (p.Gln630=)
c.1986A>G (p.Gln662=)
n.405A>G
c.1947A>G (p.Gln649=)
c.1779A>G (p.Gln593=)
 dbSNP gnomAD v3 gnomAD v4
21g.25897579T>GCA409806239APPn.2025A>C
n.455A>C
n.724A>C
c.2058A>C (p.Gln686His)
c.1833A>C (p.Gln611His)
c.1665A>C (p.Gln555His)
c.2001A>C (p.Gln667His)
c.2004A>C (p.Gln668His)
c.1728A>C (p.Gln576His)
c.1890A>C (p.Gln630His)
c.1986A>C (p.Gln662His)
n.405A>C
c.1947A>C (p.Gln649His)
c.1779A>C (p.Gln593His)
21g.25897579T=CA2383554904APPn.2025A=
n.455A=
n.724A=
c.2058A= (p.Gln686=)
c.1833A= (p.Gln611=)
c.1665A= (p.Gln555=)
c.2001A= (p.Gln667=)
c.2004A= (p.Gln668=)
c.1728A= (p.Gln576=)
c.1890A= (p.Gln630=)
c.1986A= (p.Gln662=)
n.405A=
c.1947A= (p.Gln649=)
c.1779A= (p.Gln593=)
21g.25897579_25897582delinsTTGACA2383554903APPn.2022_2025delinsTCAA
n.452_455delinsTCAA
n.721_724delinsTCAA
c.2055_2058delinsTCAA (p.His685=)
c.1830_1833delinsTCAA (p.His610=)
c.1662_1665delinsTCAA (p.His554=)
c.1998_2001delinsTCAA (p.His666=)
c.2001_2004delinsTCAA (p.His667=)
c.1725_1728delinsTCAA (p.His575=)
c.1887_1890delinsTCAA (p.His629=)
c.1983_1986delinsTCAA (p.His661=)
n.402_405delinsTCAA
c.1944_1947delinsTCAA (p.His648=)
c.1776_1779delinsTCAA (p.His592=)
21g.25897580T>ACA409806241APPn.2024A>T
n.454A>T
n.723A>T
c.2057A>T (p.Gln686Leu)
c.1832A>T (p.Gln611Leu)
c.1664A>T (p.Gln555Leu)
c.2000A>T (p.Gln667Leu)
c.2003A>T (p.Gln668Leu)
c.1727A>T (p.Gln576Leu)
c.1889A>T (p.Gln630Leu)
c.1985A>T (p.Gln662Leu)
n.404A>T
c.1946A>T (p.Gln649Leu)
c.1778A>T (p.Gln593Leu)
21g.25897580T>CCA409806242APPn.2024A>G
n.454A>G
n.723A>G
c.2057A>G (p.Gln686Arg)
c.1832A>G (p.Gln611Arg)
c.1664A>G (p.Gln555Arg)
c.2000A>G (p.Gln667Arg)
c.2003A>G (p.Gln668Arg)
c.1727A>G (p.Gln576Arg)
c.1889A>G (p.Gln630Arg)
c.1985A>G (p.Gln662Arg)
n.404A>G
c.1946A>G (p.Gln649Arg)
c.1778A>G (p.Gln593Arg)
21g.25897580T>GCA409806244APPn.2024A>C
n.454A>C
n.723A>C
c.2057A>C (p.Gln686Pro)
c.1832A>C (p.Gln611Pro)
c.1664A>C (p.Gln555Pro)
c.2000A>C (p.Gln667Pro)
c.2003A>C (p.Gln668Pro)
c.1727A>C (p.Gln576Pro)
c.1889A>C (p.Gln630Pro)
c.1985A>C (p.Gln662Pro)
n.404A>C
c.1946A>C (p.Gln649Pro)
c.1778A>C (p.Gln593Pro)
 COSMIC
21g.25897586_25897588delCA511686140APPn.2022_2024del
n.452_454del
n.721_723del
c.2055_2057del (p.His685del)
c.1830_1832del (p.His610del)
c.1662_1664del (p.His554del)
c.1998_2000del (p.His666del)
c.2001_2003del (p.His667del)
c.1725_1727del (p.His575del)
c.1887_1889del (p.His629del)
c.1983_1985del (p.His661del)
n.402_404del
c.1944_1946del (p.His648del)
c.1776_1778del (p.His592del)
 dbSNP gnomAD v2
21g.25897581G>ACA409806246APPn.2023C>T
n.453C>T
n.722C>T
c.2056C>T (p.Gln686Ter)
c.1831C>T (p.Gln611Ter)
c.1663C>T (p.Gln555Ter)
c.1999C>T (p.Gln667Ter)
c.2002C>T (p.Gln668Ter)
c.1726C>T (p.Gln576Ter)
c.1888C>T (p.Gln630Ter)
c.1984C>T (p.Gln662Ter)
n.403C>T
c.1945C>T (p.Gln649Ter)
c.1777C>T (p.Gln593Ter)
21g.25897581G>CCA409806248APPn.2023C>G
n.453C>G
n.722C>G
c.2056C>G (p.Gln686Glu)
c.1831C>G (p.Gln611Glu)
c.1663C>G (p.Gln555Glu)
c.1999C>G (p.Gln667Glu)
c.2002C>G (p.Gln668Glu)
c.1726C>G (p.Gln576Glu)
c.1888C>G (p.Gln630Glu)
c.1984C>G (p.Gln662Glu)
n.403C>G
c.1945C>G (p.Gln649Glu)
c.1777C>G (p.Gln593Glu)
 dbSNP gnomAD v4
21g.25897581G=CA2383554905APPn.2023C=
n.453C=
n.722C=
c.2056C= (p.Gln686=)
c.1831C= (p.Gln611=)
c.1663C= (p.Gln555=)
c.1999C= (p.Gln667=)
c.2002C= (p.Gln668=)
c.1726C= (p.Gln576=)
c.1888C= (p.Gln630=)
c.1984C= (p.Gln662=)
n.403C=
c.1945C= (p.Gln649=)
c.1777C= (p.Gln593=)
21g.25897581G>TCA409806250APPn.2023C>A
n.453C>A
n.722C>A
c.2056C>A (p.Gln686Lys)
c.1831C>A (p.Gln611Lys)
c.1663C>A (p.Gln555Lys)
c.1999C>A (p.Gln667Lys)
c.2002C>A (p.Gln668Lys)
c.1726C>A (p.Gln576Lys)
c.1888C>A (p.Gln630Lys)
c.1984C>A (p.Gln662Lys)
n.403C>A
c.1945C>A (p.Gln649Lys)
c.1777C>A (p.Gln593Lys)
 COSMIC
21g.25897582A>CCA409806252APPn.2022T>G
n.452T>G
n.721T>G
c.2055T>G (p.His685Gln)
c.1830T>G (p.His610Gln)
c.1662T>G (p.His554Gln)
c.1998T>G (p.His666Gln)
c.2001T>G (p.His667Gln)
c.1725T>G (p.His575Gln)
c.1887T>G (p.His629Gln)
c.1983T>G (p.His661Gln)
n.402T>G
c.1944T>G (p.His648Gln)
c.1776T>G (p.His592Gln)
21g.25897582A>GCA511686143APPn.2022T>C
n.452T>C
n.721T>C
c.2055T>C (p.His685=)
c.1830T>C (p.His610=)
c.1662T>C (p.His554=)
c.1998T>C (p.His666=)
c.2001T>C (p.His667=)
c.1725T>C (p.His575=)
c.1887T>C (p.His629=)
c.1983T>C (p.His661=)
n.402T>C
c.1944T>C (p.His648=)
c.1776T>C (p.His592=)
21g.25897582A>TCA409806253APPn.2022T>A
n.452T>A
n.721T>A
c.2055T>A (p.His685Gln)
c.1830T>A (p.His610Gln)
c.1662T>A (p.His554Gln)
c.1998T>A (p.His666Gln)
c.2001T>A (p.His667Gln)
c.1725T>A (p.His575Gln)
c.1887T>A (p.His629Gln)
c.1983T>A (p.His661Gln)
n.402T>A
c.1944T>A (p.His648Gln)
c.1776T>A (p.His592Gln)
21g.25897583T>ACA409806258APPn.2021A>T
n.451A>T
n.720A>T
c.2054A>T (p.His685Leu)
c.1829A>T (p.His610Leu)
c.1661A>T (p.His554Leu)
c.1997A>T (p.His666Leu)
c.2000A>T (p.His667Leu)
c.1724A>T (p.His575Leu)
c.1886A>T (p.His629Leu)
c.1982A>T (p.His661Leu)
n.401A>T
c.1943A>T (p.His648Leu)
c.1775A>T (p.His592Leu)
21g.25897583T>CCA9987087APPn.2021A>G
n.451A>G
n.720A>G
c.2054A>G (p.His685Arg)
c.1829A>G (p.His610Arg)
c.1661A>G (p.His554Arg)
c.1997A>G (p.His666Arg)
c.2000A>G (p.His667Arg)
c.1724A>G (p.His575Arg)
c.1886A>G (p.His629Arg)
c.1982A>G (p.His661Arg)
n.401A>G
c.1943A>G (p.His648Arg)
c.1775A>G (p.His592Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.25897583T>GCA409806256APPn.2021A>C
n.451A>C
n.720A>C
c.2054A>C (p.His685Pro)
c.1829A>C (p.His610Pro)
c.1661A>C (p.His554Pro)
c.1997A>C (p.His666Pro)
c.2000A>C (p.His667Pro)
c.1724A>C (p.His575Pro)
c.1886A>C (p.His629Pro)
c.1982A>C (p.His661Pro)
n.401A>C
c.1943A>C (p.His648Pro)
c.1775A>C (p.His592Pro)
21g.25897583T=CA2383554906APPn.2021A=
n.451A=
n.720A=
c.2054A= (p.His685=)
c.1829A= (p.His610=)
c.1661A= (p.His554=)
c.1997A= (p.His666=)
c.2000A= (p.His667=)
c.1724A= (p.His575=)
c.1886A= (p.His629=)
c.1982A= (p.His661=)
n.401A=
c.1943A= (p.His648=)
c.1775A= (p.His592=)
21g.25897584G>ACA409806261APPn.2020C>T
n.450C>T
n.719C>T
c.2053C>T (p.His685Tyr)
c.1828C>T (p.His610Tyr)
c.1660C>T (p.His554Tyr)
c.1996C>T (p.His666Tyr)
c.1999C>T (p.His667Tyr)
c.1723C>T (p.His575Tyr)
c.1885C>T (p.His629Tyr)
c.1981C>T (p.His661Tyr)
n.400C>T
c.1942C>T (p.His648Tyr)
c.1774C>T (p.His592Tyr)
21g.25897584G>CCA409806262APPn.2020C>G
n.450C>G
n.719C>G
c.2053C>G (p.His685Asp)
c.1828C>G (p.His610Asp)
c.1660C>G (p.His554Asp)
c.1996C>G (p.His666Asp)
c.1999C>G (p.His667Asp)
c.1723C>G (p.His575Asp)
c.1885C>G (p.His629Asp)
c.1981C>G (p.His661Asp)
n.400C>G
c.1942C>G (p.His648Asp)
c.1774C>G (p.His592Asp)
21g.25897584G>TCA409806264APPn.2020C>A
n.450C>A
n.719C>A
c.2053C>A (p.His685Asn)
c.1828C>A (p.His610Asn)
c.1660C>A (p.His554Asn)
c.1996C>A (p.His666Asn)
c.1999C>A (p.His667Asn)
c.1723C>A (p.His575Asn)
c.1885C>A (p.His629Asn)
c.1981C>A (p.His661Asn)
n.400C>A
c.1942C>A (p.His648Asn)
c.1774C>A (p.His592Asn)
21g.25897585A>CCA409806266APPn.2019T>G
n.449T>G
n.718T>G
c.2052T>G (p.His684Gln)
c.1827T>G (p.His609Gln)
c.1659T>G (p.His553Gln)
c.1995T>G (p.His665Gln)
c.1998T>G (p.His666Gln)
c.1722T>G (p.His574Gln)
c.1884T>G (p.His628Gln)
c.1980T>G (p.His660Gln)
n.399T>G
c.1941T>G (p.His647Gln)
c.1773T>G (p.His591Gln)
21g.25897585A>GCA511686146APPn.2019T>C
n.449T>C
n.718T>C
c.2052T>C (p.His684=)
c.1827T>C (p.His609=)
c.1659T>C (p.His553=)
c.1995T>C (p.His665=)
c.1998T>C (p.His666=)
c.1722T>C (p.His574=)
c.1884T>C (p.His628=)
c.1980T>C (p.His660=)
n.399T>C
c.1941T>C (p.His647=)
c.1773T>C (p.His591=)
21g.25897585A>TCA409806268APPn.2019T>A
n.449T>A
n.718T>A
c.2052T>A (p.His684Gln)
c.1827T>A (p.His609Gln)
c.1659T>A (p.His553Gln)
c.1995T>A (p.His665Gln)
c.1998T>A (p.His666Gln)
c.1722T>A (p.His574Gln)
c.1884T>A (p.His628Gln)
c.1980T>A (p.His660Gln)
n.399T>A
c.1941T>A (p.His647Gln)
c.1773T>A (p.His591Gln)
 COSMIC
21g.25897586T>ACA409806270APPn.2018A>T
n.448A>T
n.717A>T
c.2051A>T (p.His684Leu)
c.1826A>T (p.His609Leu)
c.1658A>T (p.His553Leu)
c.1994A>T (p.His665Leu)
c.1997A>T (p.His666Leu)
c.1721A>T (p.His574Leu)
c.1883A>T (p.His628Leu)
c.1979A>T (p.His660Leu)
n.398A>T
c.1940A>T (p.His647Leu)
c.1772A>T (p.His591Leu)
 dbSNP
21g.25897586T>CCA409806272APPn.2018A>G
n.448A>G
n.717A>G
c.2051A>G (p.His684Arg)
c.1826A>G (p.His609Arg)
c.1658A>G (p.His553Arg)
c.1994A>G (p.His665Arg)
c.1997A>G (p.His666Arg)
c.1721A>G (p.His574Arg)
c.1883A>G (p.His628Arg)
c.1979A>G (p.His660Arg)
n.398A>G
c.1940A>G (p.His647Arg)
c.1772A>G (p.His591Arg)
 gnomAD v4
21g.25897586T>GCA409806274APPn.2018A>C
n.448A>C
n.717A>C
c.2051A>C (p.His684Pro)
c.1826A>C (p.His609Pro)
c.1658A>C (p.His553Pro)
c.1994A>C (p.His665Pro)
c.1997A>C (p.His666Pro)
c.1721A>C (p.His574Pro)
c.1883A>C (p.His628Pro)
c.1979A>C (p.His660Pro)
n.398A>C
c.1940A>C (p.His647Pro)
c.1772A>C (p.His591Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.25897586T=CA2383554907APPn.2018A=
n.448A=
n.717A=
c.2051A= (p.His684=)
c.1826A= (p.His609=)
c.1658A= (p.His553=)
c.1994A= (p.His665=)
c.1997A= (p.His666=)
c.1721A= (p.His574=)
c.1883A= (p.His628=)
c.1979A= (p.His660=)
n.398A=
c.1940A= (p.His647=)
c.1772A= (p.His591=)
21g.25897587G>ACA409806277APPn.2017C>T
n.447C>T
n.716C>T
c.2050C>T (p.His684Tyr)
c.1825C>T (p.His609Tyr)
c.1657C>T (p.His553Tyr)
c.1993C>T (p.His665Tyr)
c.1996C>T (p.His666Tyr)
c.1720C>T (p.His574Tyr)
c.1882C>T (p.His628Tyr)
c.1978C>T (p.His660Tyr)
n.397C>T
c.1939C>T (p.His647Tyr)
c.1771C>T (p.His591Tyr)
 gnomAD v4
21g.25897587G>CCA409806278APPn.2017C>G
n.447C>G
n.716C>G
c.2050C>G (p.His684Asp)
c.1825C>G (p.His609Asp)
c.1657C>G (p.His553Asp)
c.1993C>G (p.His665Asp)
c.1996C>G (p.His666Asp)
c.1720C>G (p.His574Asp)
c.1882C>G (p.His628Asp)
c.1978C>G (p.His660Asp)
n.397C>G
c.1939C>G (p.His647Asp)
c.1771C>G (p.His591Asp)
21g.25897587G>TCA409806280APPn.2017C>A
n.447C>A
n.716C>A
c.2050C>A (p.His684Asn)
c.1825C>A (p.His609Asn)
c.1657C>A (p.His553Asn)
c.1993C>A (p.His665Asn)
c.1996C>A (p.His666Asn)
c.1720C>A (p.His574Asn)
c.1882C>A (p.His628Asn)
c.1978C>A (p.His660Asn)
n.397C>A
c.1939C>A (p.His647Asn)
c.1771C>A (p.His591Asn)
21g.25897588A=CA2383554908APPn.2016T=
n.446T=
n.715T=
c.2049T= (p.Val683=)
c.1824T= (p.Val608=)
c.1656T= (p.Val552=)
c.1992T= (p.Val664=)
c.1995T= (p.Val665=)
c.1719T= (p.Val573=)
c.1881T= (p.Val627=)
c.1977T= (p.Val659=)
n.396T=
c.1938T= (p.Val646=)
c.1770T= (p.Val590=)
21g.25897588A>CCA511686150APPn.2016T>G
n.446T>G
n.715T>G
c.2049T>G (p.Val683=)
c.1824T>G (p.Val608=)
c.1656T>G (p.Val552=)
c.1992T>G (p.Val664=)
c.1995T>G (p.Val665=)
c.1719T>G (p.Val573=)
c.1881T>G (p.Val627=)
c.1977T>G (p.Val659=)
n.396T>G
c.1938T>G (p.Val646=)
c.1770T>G (p.Val590=)
21g.25897588A>GCA511686151APPn.2016T>C
n.446T>C
n.715T>C
c.2049T>C (p.Val683=)
c.1824T>C (p.Val608=)
c.1656T>C (p.Val552=)
c.1992T>C (p.Val664=)
c.1995T>C (p.Val665=)
c.1719T>C (p.Val573=)
c.1881T>C (p.Val627=)
c.1977T>C (p.Val659=)
n.396T>C
c.1938T>C (p.Val646=)
c.1770T>C (p.Val590=)
21g.25897588A>TCA9987088APPn.2016T>A
n.446T>A
n.715T>A
c.2049T>A (p.Val683=)
c.1824T>A (p.Val608=)
c.1656T>A (p.Val552=)
c.1992T>A (p.Val664=)
c.1995T>A (p.Val665=)
c.1719T>A (p.Val573=)
c.1881T>A (p.Val627=)
c.1977T>A (p.Val659=)
n.396T>A
c.1938T>A (p.Val646=)
c.1770T>A (p.Val590=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897589A>CCA409806285APPn.2015T>G
n.445T>G
n.714T>G
c.2048T>G (p.Val683Gly)
c.1823T>G (p.Val608Gly)
c.1655T>G (p.Val552Gly)
c.1991T>G (p.Val664Gly)
c.1994T>G (p.Val665Gly)
c.1718T>G (p.Val573Gly)
c.1880T>G (p.Val627Gly)
c.1976T>G (p.Val659Gly)
n.395T>G
c.1937T>G (p.Val646Gly)
c.1769T>G (p.Val590Gly)
21g.25897589A>GCA409806287APPn.2015T>C
n.445T>C
n.714T>C
c.2048T>C (p.Val683Ala)
c.1823T>C (p.Val608Ala)
c.1655T>C (p.Val552Ala)
c.1991T>C (p.Val664Ala)
c.1994T>C (p.Val665Ala)
c.1718T>C (p.Val573Ala)
c.1880T>C (p.Val627Ala)
c.1976T>C (p.Val659Ala)
n.395T>C
c.1937T>C (p.Val646Ala)
c.1769T>C (p.Val590Ala)
21g.25897589A>TCA409806283APPn.2015T>A
n.445T>A
n.714T>A
c.2048T>A (p.Val683Asp)
c.1823T>A (p.Val608Asp)
c.1655T>A (p.Val552Asp)
c.1991T>A (p.Val664Asp)
c.1994T>A (p.Val665Asp)
c.1718T>A (p.Val573Asp)
c.1880T>A (p.Val627Asp)
c.1976T>A (p.Val659Asp)
n.395T>A
c.1937T>A (p.Val646Asp)
c.1769T>A (p.Val590Asp)
21g.25897590C>ACA409806291APPn.2014G>T
n.444G>T
n.713G>T
c.2047G>T (p.Val683Phe)
c.1822G>T (p.Val608Phe)
c.1654G>T (p.Val552Phe)
c.1990G>T (p.Val664Phe)
c.1993G>T (p.Val665Phe)
c.1717G>T (p.Val573Phe)
c.1879G>T (p.Val627Phe)
c.1975G>T (p.Val659Phe)
n.394G>T
c.1936G>T (p.Val646Phe)
c.1768G>T (p.Val590Phe)
21g.25897590C=CA2383554909APPn.2014G=
n.444G=
n.713G=
c.2047G= (p.Val683=)
c.1822G= (p.Val608=)
c.1654G= (p.Val552=)
c.1990G= (p.Val664=)
c.1993G= (p.Val665=)
c.1717G= (p.Val573=)
c.1879G= (p.Val627=)
c.1975G= (p.Val659=)
n.394G=
c.1936G= (p.Val646=)
c.1768G= (p.Val590=)
21g.25897590C>GCA409806289APPn.2014G>C
n.444G>C
n.713G>C
c.2047G>C (p.Val683Leu)
c.1822G>C (p.Val608Leu)
c.1654G>C (p.Val552Leu)
c.1990G>C (p.Val664Leu)
c.1993G>C (p.Val665Leu)
c.1717G>C (p.Val573Leu)
c.1879G>C (p.Val627Leu)
c.1975G>C (p.Val659Leu)
n.394G>C
c.1936G>C (p.Val646Leu)
c.1768G>C (p.Val590Leu)
21g.25897590C>TCA9987089APPn.2014G>A
n.444G>A
n.713G>A
c.2047G>A (p.Val683Ile)
c.1822G>A (p.Val608Ile)
c.1654G>A (p.Val552Ile)
c.1990G>A (p.Val664Ile)
c.1993G>A (p.Val665Ile)
c.1717G>A (p.Val573Ile)
c.1879G>A (p.Val627Ile)
c.1975G>A (p.Val659Ile)
n.394G>A
c.1936G>A (p.Val646Ile)
c.1768G>A (p.Val590Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897591T>ACA409806294APPn.2013A>T
n.443A>T
n.712A>T
c.2046A>T (p.Glu682Asp)
c.1821A>T (p.Glu607Asp)
c.1653A>T (p.Glu551Asp)
c.1989A>T (p.Glu663Asp)
c.1992A>T (p.Glu664Asp)
c.1716A>T (p.Glu572Asp)
c.1878A>T (p.Glu626Asp)
c.1974A>T (p.Glu658Asp)
n.393A>T
c.1935A>T (p.Glu645Asp)
c.1767A>T (p.Glu589Asp)
21g.25897591T>CCA511686155APPn.2013A>G
n.443A>G
n.712A>G
c.2046A>G (p.Glu682=)
c.1821A>G (p.Glu607=)
c.1653A>G (p.Glu551=)
c.1989A>G (p.Glu663=)
c.1992A>G (p.Glu664=)
c.1716A>G (p.Glu572=)
c.1878A>G (p.Glu626=)
c.1974A>G (p.Glu658=)
n.393A>G
c.1935A>G (p.Glu645=)
c.1767A>G (p.Glu589=)
 ClinVar dbSNP gnomAD v4
21g.25897591T>GCA409806296APPn.2013A>C
n.443A>C
n.712A>C
c.2046A>C (p.Glu682Asp)
c.1821A>C (p.Glu607Asp)
c.1653A>C (p.Glu551Asp)
c.1989A>C (p.Glu663Asp)
c.1992A>C (p.Glu664Asp)
c.1716A>C (p.Glu572Asp)
c.1878A>C (p.Glu626Asp)
c.1974A>C (p.Glu658Asp)
n.393A>C
c.1935A>C (p.Glu645Asp)
c.1767A>C (p.Glu589Asp)
21g.25897591T=CA2383554910APPn.2013A=
n.443A=
n.712A=
c.2046A= (p.Glu682=)
c.1821A= (p.Glu607=)
c.1653A= (p.Glu551=)
c.1989A= (p.Glu663=)
c.1992A= (p.Glu664=)
c.1716A= (p.Glu572=)
c.1878A= (p.Glu626=)
c.1974A= (p.Glu658=)
n.393A=
c.1935A= (p.Glu645=)
c.1767A= (p.Glu589=)
21g.25897592T>ACA409806298APPn.2012A>T
n.442A>T
n.711A>T
c.2045A>T (p.Glu682Val)
c.1820A>T (p.Glu607Val)
c.1652A>T (p.Glu551Val)
c.1988A>T (p.Glu663Val)
c.1991A>T (p.Glu664Val)
c.1715A>T (p.Glu572Val)
c.1877A>T (p.Glu626Val)
c.1973A>T (p.Glu658Val)
n.392A>T
c.1934A>T (p.Glu645Val)
c.1766A>T (p.Glu589Val)
21g.25897592T>CCA409806300APPn.2012A>G
n.442A>G
n.711A>G
c.2045A>G (p.Glu682Gly)
c.1820A>G (p.Glu607Gly)
c.1652A>G (p.Glu551Gly)
c.1988A>G (p.Glu663Gly)
c.1991A>G (p.Glu664Gly)
c.1715A>G (p.Glu572Gly)
c.1877A>G (p.Glu626Gly)
c.1973A>G (p.Glu658Gly)
n.392A>G
c.1934A>G (p.Glu645Gly)
c.1766A>G (p.Glu589Gly)
21g.25897592T>GCA409806302APPn.2012A>C
n.442A>C
n.711A>C
c.2045A>C (p.Glu682Ala)
c.1820A>C (p.Glu607Ala)
c.1652A>C (p.Glu551Ala)
c.1988A>C (p.Glu663Ala)
c.1991A>C (p.Glu664Ala)
c.1715A>C (p.Glu572Ala)
c.1877A>C (p.Glu626Ala)
c.1973A>C (p.Glu658Ala)
n.392A>C
c.1934A>C (p.Glu645Ala)
c.1766A>C (p.Glu589Ala)
 gnomAD v4
21g.25897593C>ACA409806304APPn.2011G>T
n.441G>T
n.710G>T
c.2044G>T (p.Glu682Ter)
c.1819G>T (p.Glu607Ter)
c.1651G>T (p.Glu551Ter)
c.1987G>T (p.Glu663Ter)
c.1990G>T (p.Glu664Ter)
c.1714G>T (p.Glu572Ter)
c.1876G>T (p.Glu626Ter)
c.1972G>T (p.Glu658Ter)
n.391G>T
c.1933G>T (p.Glu645Ter)
c.1765G>T (p.Glu589Ter)
21g.25897593C=CA2383554911APPn.2011G=
n.441G=
n.710G=
c.2044G= (p.Glu682=)
c.1819G= (p.Glu607=)
c.1651G= (p.Glu551=)
c.1987G= (p.Glu663=)
c.1990G= (p.Glu664=)
c.1714G= (p.Glu572=)
c.1876G= (p.Glu626=)
c.1972G= (p.Glu658=)
n.391G=
c.1933G= (p.Glu645=)
c.1765G= (p.Glu589=)
21g.25897593C>GCA409806306APPn.2011G>C
n.441G>C
n.710G>C
c.2044G>C (p.Glu682Gln)
c.1819G>C (p.Glu607Gln)
c.1651G>C (p.Glu551Gln)
c.1987G>C (p.Glu663Gln)
c.1990G>C (p.Glu664Gln)
c.1714G>C (p.Glu572Gln)
c.1876G>C (p.Glu626Gln)
c.1972G>C (p.Glu658Gln)
n.391G>C
c.1933G>C (p.Glu645Gln)
c.1765G>C (p.Glu589Gln)
 gnomAD v4
21g.25897593C>TCA409806308APPn.2011G>A
n.441G>A
n.710G>A
c.2044G>A (p.Glu682Lys)
c.1819G>A (p.Glu607Lys)
c.1651G>A (p.Glu551Lys)
c.1987G>A (p.Glu663Lys)
c.1990G>A (p.Glu664Lys)
c.1714G>A (p.Glu572Lys)
c.1876G>A (p.Glu626Lys)
c.1972G>A (p.Glu658Lys)
n.391G>A
c.1933G>A (p.Glu645Lys)
c.1765G>A (p.Glu589Lys)
 dbSNP
21g.25897594A>CCA409806310APPn.2010T>G
n.440T>G
n.709T>G
c.2043T>G (p.Tyr681Ter)
c.1818T>G (p.Tyr606Ter)
c.1650T>G (p.Tyr550Ter)
c.1986T>G (p.Tyr662Ter)
c.1989T>G (p.Tyr663Ter)
c.1713T>G (p.Tyr571Ter)
c.1875T>G (p.Tyr625Ter)
c.1971T>G (p.Tyr657Ter)
n.390T>G
c.1932T>G (p.Tyr644Ter)
c.1764T>G (p.Tyr588Ter)
21g.25897594A>GCA511686157APPn.2010T>C
n.440T>C
n.709T>C
c.2043T>C (p.Tyr681=)
c.1818T>C (p.Tyr606=)
c.1650T>C (p.Tyr550=)
c.1986T>C (p.Tyr662=)
c.1989T>C (p.Tyr663=)
c.1713T>C (p.Tyr571=)
c.1875T>C (p.Tyr625=)
c.1971T>C (p.Tyr657=)
n.390T>C
c.1932T>C (p.Tyr644=)
c.1764T>C (p.Tyr588=)
21g.25897594A>TCA409806312APPn.2010T>A
n.440T>A
n.709T>A
c.2043T>A (p.Tyr681Ter)
c.1818T>A (p.Tyr606Ter)
c.1650T>A (p.Tyr550Ter)
c.1986T>A (p.Tyr662Ter)
c.1989T>A (p.Tyr663Ter)
c.1713T>A (p.Tyr571Ter)
c.1875T>A (p.Tyr625Ter)
c.1971T>A (p.Tyr657Ter)
n.390T>A
c.1932T>A (p.Tyr644Ter)
c.1764T>A (p.Tyr588Ter)
21g.25897594dupCA637163687APPn.2010dup
n.440dup
n.709dup
c.2043dup (p.Glu682Ter)
c.1818dup (p.Glu607Ter)
c.1650dup (p.Glu551Ter)
c.1986dup (p.Glu663Ter)
c.1989dup (p.Glu664Ter)
c.1713dup (p.Glu572Ter)
c.1875dup (p.Glu626Ter)
c.1971dup (p.Glu658Ter)
n.390dup
c.1932dup (p.Glu645Ter)
c.1764dup (p.Glu589Ter)
 dbSNP gnomAD v2 gnomAD v4
21g.25897595T>ACA409806314APPn.2009A>T
n.439A>T
n.708A>T
c.2042A>T (p.Tyr681Phe)
c.1817A>T (p.Tyr606Phe)
c.1649A>T (p.Tyr550Phe)
c.1985A>T (p.Tyr662Phe)
c.1988A>T (p.Tyr663Phe)
c.1712A>T (p.Tyr571Phe)
c.1874A>T (p.Tyr625Phe)
c.1970A>T (p.Tyr657Phe)
n.389A>T
c.1931A>T (p.Tyr644Phe)
c.1763A>T (p.Tyr588Phe)
21g.25897595T>CCA409806315APPn.2009A>G
n.439A>G
n.708A>G
c.2042A>G (p.Tyr681Cys)
c.1817A>G (p.Tyr606Cys)
c.1649A>G (p.Tyr550Cys)
c.1985A>G (p.Tyr662Cys)
c.1988A>G (p.Tyr663Cys)
c.1712A>G (p.Tyr571Cys)
c.1874A>G (p.Tyr625Cys)
c.1970A>G (p.Tyr657Cys)
n.389A>G
c.1931A>G (p.Tyr644Cys)
c.1763A>G (p.Tyr588Cys)
21g.25897595T>GCA409806317APPn.2009A>C
n.439A>C
n.708A>C
c.2042A>C (p.Tyr681Ser)
c.1817A>C (p.Tyr606Ser)
c.1649A>C (p.Tyr550Ser)
c.1985A>C (p.Tyr662Ser)
c.1988A>C (p.Tyr663Ser)
c.1712A>C (p.Tyr571Ser)
c.1874A>C (p.Tyr625Ser)
c.1970A>C (p.Tyr657Ser)
n.389A>C
c.1931A>C (p.Tyr644Ser)
c.1763A>C (p.Tyr588Ser)
21g.25897596A>CCA409806322APPn.2008T>G
n.438T>G
n.707T>G
c.2041T>G (p.Tyr681Asp)
c.1816T>G (p.Tyr606Asp)
c.1648T>G (p.Tyr550Asp)
c.1984T>G (p.Tyr662Asp)
c.1987T>G (p.Tyr663Asp)
c.1711T>G (p.Tyr571Asp)
c.1873T>G (p.Tyr625Asp)
c.1969T>G (p.Tyr657Asp)
n.388T>G
c.1930T>G (p.Tyr644Asp)
c.1762T>G (p.Tyr588Asp)
21g.25897596A>GCA409806319APPn.2008T>C
n.438T>C
n.707T>C
c.2041T>C (p.Tyr681His)
c.1816T>C (p.Tyr606His)
c.1648T>C (p.Tyr550His)
c.1984T>C (p.Tyr662His)
c.1987T>C (p.Tyr663His)
c.1711T>C (p.Tyr571His)
c.1873T>C (p.Tyr625His)
c.1969T>C (p.Tyr657His)
n.388T>C
c.1930T>C (p.Tyr644His)
c.1762T>C (p.Tyr588His)
21g.25897596A>TCA409806321APPn.2008T>A
n.438T>A
n.707T>A
c.2041T>A (p.Tyr681Asn)
c.1816T>A (p.Tyr606Asn)
c.1648T>A (p.Tyr550Asn)
c.1984T>A (p.Tyr662Asn)
c.1987T>A (p.Tyr663Asn)
c.1711T>A (p.Tyr571Asn)
c.1873T>A (p.Tyr625Asn)
c.1969T>A (p.Tyr657Asn)
n.388T>A
c.1930T>A (p.Tyr644Asn)
c.1762T>A (p.Tyr588Asn)
21g.25897597T>ACA511686160APPn.2007A>T
n.437A>T
n.706A>T
c.2040A>T (p.Gly680=)
c.1815A>T (p.Gly605=)
c.1647A>T (p.Gly549=)
c.1983A>T (p.Gly661=)
c.1986A>T (p.Gly662=)
c.1710A>T (p.Gly570=)
c.1872A>T (p.Gly624=)
c.1968A>T (p.Gly656=)
n.387A>T
c.1929A>T (p.Gly643=)
c.1761A>T (p.Gly587=)
21g.25897597T>CCA511686161APPn.2007A>G
n.437A>G
n.706A>G
c.2040A>G (p.Gly680=)
c.1815A>G (p.Gly605=)
c.1647A>G (p.Gly549=)
c.1983A>G (p.Gly661=)
c.1986A>G (p.Gly662=)
c.1710A>G (p.Gly570=)
c.1872A>G (p.Gly624=)
c.1968A>G (p.Gly656=)
n.387A>G
c.1929A>G (p.Gly643=)
c.1761A>G (p.Gly587=)
 gnomAD v4
21g.25897597T>GCA511686159APPn.2007A>C
n.437A>C
n.706A>C
c.2040A>C (p.Gly680=)
c.1815A>C (p.Gly605=)
c.1647A>C (p.Gly549=)
c.1983A>C (p.Gly661=)
c.1986A>C (p.Gly662=)
c.1710A>C (p.Gly570=)
c.1872A>C (p.Gly624=)
c.1968A>C (p.Gly656=)
n.387A>C
c.1929A>C (p.Gly643=)
c.1761A>C (p.Gly587=)
21g.25897598C>ACA319103384APPn.2006G>T
n.436G>T
n.705G>T
c.2039G>T (p.Gly680Val)
c.1814G>T (p.Gly605Val)
c.1646G>T (p.Gly549Val)
c.1982G>T (p.Gly661Val)
c.1985G>T (p.Gly662Val)
c.1709G>T (p.Gly570Val)
c.1871G>T (p.Gly624Val)
c.1967G>T (p.Gly656Val)
n.386G>T
c.1928G>T (p.Gly643Val)
c.1760G>T (p.Gly587Val)
 dbSNP gnomAD v4
21g.25897598C=CA2383554912APPn.2006G=
n.436G=
n.705G=
c.2039G= (p.Gly680=)
c.1814G= (p.Gly605=)
c.1646G= (p.Gly549=)
c.1982G= (p.Gly661=)
c.1985G= (p.Gly662=)
c.1709G= (p.Gly570=)
c.1871G= (p.Gly624=)
c.1967G= (p.Gly656=)
n.386G=
c.1928G= (p.Gly643=)
c.1760G= (p.Gly587=)
21g.25897598C>GCA319103385APPn.2006G>C
n.436G>C
n.705G>C
c.2039G>C (p.Gly680Ala)
c.1814G>C (p.Gly605Ala)
c.1646G>C (p.Gly549Ala)
c.1982G>C (p.Gly661Ala)
c.1985G>C (p.Gly662Ala)
c.1709G>C (p.Gly570Ala)
c.1871G>C (p.Gly624Ala)
c.1967G>C (p.Gly656Ala)
n.386G>C
c.1928G>C (p.Gly643Ala)
c.1760G>C (p.Gly587Ala)
 dbSNP gnomAD v4
21g.25897598C>TCA9987090APPn.2006G>A
n.436G>A
n.705G>A
c.2039G>A (p.Gly680Glu)
c.1814G>A (p.Gly605Glu)
c.1646G>A (p.Gly549Glu)
c.1982G>A (p.Gly661Glu)
c.1985G>A (p.Gly662Glu)
c.1709G>A (p.Gly570Glu)
c.1871G>A (p.Gly624Glu)
c.1967G>A (p.Gly656Glu)
n.386G>A
c.1928G>A (p.Gly643Glu)
c.1760G>A (p.Gly587Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.25897599C>ACA409806329APPn.2005G>T
n.435G>T
n.704G>T
c.2038G>T (p.Gly680Ter)
c.1813G>T (p.Gly605Ter)
c.1645G>T (p.Gly549Ter)
c.1981G>T (p.Gly661Ter)
c.1984G>T (p.Gly662Ter)
c.1708G>T (p.Gly570Ter)
c.1870G>T (p.Gly624Ter)
c.1966G>T (p.Gly656Ter)
n.385G>T
c.1927G>T (p.Gly643Ter)
c.1759G>T (p.Gly587Ter)
21g.25897599C>GCA409806331APPn.2005G>C
n.435G>C
n.704G>C
c.2038G>C (p.Gly680Arg)
c.1813G>C (p.Gly605Arg)
c.1645G>C (p.Gly549Arg)
c.1981G>C (p.Gly661Arg)
c.1984G>C (p.Gly662Arg)
c.1708G>C (p.Gly570Arg)
c.1870G>C (p.Gly624Arg)
c.1966G>C (p.Gly656Arg)
n.385G>C
c.1927G>C (p.Gly643Arg)
c.1759G>C (p.Gly587Arg)
21g.25897599C>TCA409806332APPn.2005G>A
n.435G>A
n.704G>A
c.2038G>A (p.Gly680Arg)
c.1813G>A (p.Gly605Arg)
c.1645G>A (p.Gly549Arg)
c.1981G>A (p.Gly661Arg)
c.1984G>A (p.Gly662Arg)
c.1708G>A (p.Gly570Arg)
c.1870G>A (p.Gly624Arg)
c.1966G>A (p.Gly656Arg)
n.385G>A
c.1927G>A (p.Gly643Arg)
c.1759G>A (p.Gly587Arg)
21g.25897600T>ACA511686165APPn.2004A>T
n.434A>T
n.703A>T
c.2037A>T (p.Ser679=)
c.1812A>T (p.Ser604=)
c.1644A>T (p.Ser548=)
c.1980A>T (p.Ser660=)
c.1983A>T (p.Ser661=)
c.1707A>T (p.Ser569=)
c.1869A>T (p.Ser623=)
c.1965A>T (p.Ser655=)
n.384A>T
c.1926A>T (p.Ser642=)
c.1758A>T (p.Ser586=)
 COSMIC
21g.25897600T>CCA511686166APPn.2004A>G
n.434A>G
n.703A>G
c.2037A>G (p.Ser679=)
c.1812A>G (p.Ser604=)
c.1644A>G (p.Ser548=)
c.1980A>G (p.Ser660=)
c.1983A>G (p.Ser661=)
c.1707A>G (p.Ser569=)
c.1869A>G (p.Ser623=)
c.1965A>G (p.Ser655=)
n.384A>G
c.1926A>G (p.Ser642=)
c.1758A>G (p.Ser586=)
 gnomAD v4
21g.25897600T>GCA511686167APPn.2004A>C
n.434A>C
n.703A>C
c.2037A>C (p.Ser679=)
c.1812A>C (p.Ser604=)
c.1644A>C (p.Ser548=)
c.1980A>C (p.Ser660=)
c.1983A>C (p.Ser661=)
c.1707A>C (p.Ser569=)
c.1869A>C (p.Ser623=)
c.1965A>C (p.Ser655=)
n.384A>C
c.1926A>C (p.Ser642=)
c.1758A>C (p.Ser586=)
21g.25897601G>ACA409806335APPn.2003C>T
n.433C>T
n.702C>T
c.2036C>T (p.Ser679Leu)
c.1811C>T (p.Ser604Leu)
c.1643C>T (p.Ser548Leu)
c.1979C>T (p.Ser660Leu)
c.1982C>T (p.Ser661Leu)
c.1706C>T (p.Ser569Leu)
c.1868C>T (p.Ser623Leu)
c.1964C>T (p.Ser655Leu)
n.383C>T
c.1925C>T (p.Ser642Leu)
c.1757C>T (p.Ser586Leu)
21g.25897601G>CCA409806336APPn.2003C>G
n.433C>G
n.702C>G
c.2036C>G (p.Ser679Ter)
c.1811C>G (p.Ser604Ter)
c.1643C>G (p.Ser548Ter)
c.1979C>G (p.Ser660Ter)
c.1982C>G (p.Ser661Ter)
c.1706C>G (p.Ser569Ter)
c.1868C>G (p.Ser623Ter)
c.1964C>G (p.Ser655Ter)
n.383C>G
c.1925C>G (p.Ser642Ter)
c.1757C>G (p.Ser586Ter)
21g.25897601G>TCA409806338APPn.2003C>A
n.433C>A
n.702C>A
c.2036C>A (p.Ser679Ter)
c.1811C>A (p.Ser604Ter)
c.1643C>A (p.Ser548Ter)
c.1979C>A (p.Ser660Ter)
c.1982C>A (p.Ser661Ter)
c.1706C>A (p.Ser569Ter)
c.1868C>A (p.Ser623Ter)
c.1964C>A (p.Ser655Ter)
n.383C>A
c.1925C>A (p.Ser642Ter)
c.1757C>A (p.Ser586Ter)
 COSMIC
21g.25897602A>CCA409806340APPn.2002T>G
n.432T>G
n.701T>G
c.2035T>G (p.Ser679Ala)
c.1810T>G (p.Ser604Ala)
c.1642T>G (p.Ser548Ala)
c.1978T>G (p.Ser660Ala)
c.1981T>G (p.Ser661Ala)
c.1705T>G (p.Ser569Ala)
c.1867T>G (p.Ser623Ala)
c.1963T>G (p.Ser655Ala)
n.382T>G
c.1924T>G (p.Ser642Ala)
c.1756T>G (p.Ser586Ala)
21g.25897602A>GCA409806342APPn.2002T>C
n.432T>C
n.701T>C
c.2035T>C (p.Ser679Pro)
c.1810T>C (p.Ser604Pro)
c.1642T>C (p.Ser548Pro)
c.1978T>C (p.Ser660Pro)
c.1981T>C (p.Ser661Pro)
c.1705T>C (p.Ser569Pro)
c.1867T>C (p.Ser623Pro)
c.1963T>C (p.Ser655Pro)
n.382T>C
c.1924T>C (p.Ser642Pro)
c.1756T>C (p.Ser586Pro)
21g.25897602A>TCA409806344APPn.2002T>A
n.432T>A
n.701T>A
c.2035T>A (p.Ser679Thr)
c.1810T>A (p.Ser604Thr)
c.1642T>A (p.Ser548Thr)
c.1978T>A (p.Ser660Thr)
c.1981T>A (p.Ser661Thr)
c.1705T>A (p.Ser569Thr)
c.1867T>A (p.Ser623Thr)
c.1963T>A (p.Ser655Thr)
n.382T>A
c.1924T>A (p.Ser642Thr)
c.1756T>A (p.Ser586Thr)
21g.25897603G>ACA511686168APPn.2001C>T
n.431C>T
n.700C>T
c.2034C>T (p.Asp678=)
c.1809C>T (p.Asp603=)
c.1641C>T (p.Asp547=)
c.1977C>T (p.Asp659=)
c.1980C>T (p.Asp660=)
c.1704C>T (p.Asp568=)
c.1866C>T (p.Asp622=)
c.1962C>T (p.Asp654=)
n.381C>T
c.1923C>T (p.Asp641=)
c.1755C>T (p.Asp585=)
21g.25897603G>CCA409806347APPn.2001C>G
n.431C>G
n.700C>G
c.2034C>G (p.Asp678Glu)
c.1809C>G (p.Asp603Glu)
c.1641C>G (p.Asp547Glu)
c.1977C>G (p.Asp659Glu)
c.1980C>G (p.Asp660Glu)
c.1704C>G (p.Asp568Glu)
c.1866C>G (p.Asp622Glu)
c.1962C>G (p.Asp654Glu)
n.381C>G
c.1923C>G (p.Asp641Glu)
c.1755C>G (p.Asp585Glu)
 dbSNP
21g.25897603G=CA2383554913APPn.2001C=
n.431C=
n.700C=
c.2034C= (p.Asp678=)
c.1809C= (p.Asp603=)
c.1641C= (p.Asp547=)
c.1977C= (p.Asp659=)
c.1980C= (p.Asp660=)
c.1704C= (p.Asp568=)
c.1866C= (p.Asp622=)
c.1962C= (p.Asp654=)
n.381C=
c.1923C= (p.Asp641=)
c.1755C= (p.Asp585=)
21g.25897603G>TCA409806345APPn.2001C>A
n.431C>A
n.700C>A
c.2034C>A (p.Asp678Glu)
c.1809C>A (p.Asp603Glu)
c.1641C>A (p.Asp547Glu)
c.1977C>A (p.Asp659Glu)
c.1980C>A (p.Asp660Glu)
c.1704C>A (p.Asp568Glu)
c.1866C>A (p.Asp622Glu)
c.1962C>A (p.Asp654Glu)
n.381C>A
c.1923C>A (p.Asp641Glu)
c.1755C>A (p.Asp585Glu)
21g.25897604T>ACA409806349APPn.2000A>T
n.430A>T
n.699A>T
c.2033A>T (p.Asp678Val)
c.1808A>T (p.Asp603Val)
c.1640A>T (p.Asp547Val)
c.1976A>T (p.Asp659Val)
c.1979A>T (p.Asp660Val)
c.1703A>T (p.Asp568Val)
c.1865A>T (p.Asp622Val)
c.1961A>T (p.Asp654Val)
n.380A>T
c.1922A>T (p.Asp641Val)
c.1754A>T (p.Asp585Val)
21g.25897604T>CCA409806351APPn.2000A>G
n.430A>G
n.699A>G
c.2033A>G (p.Asp678Gly)
c.1808A>G (p.Asp603Gly)
c.1640A>G (p.Asp547Gly)
c.1976A>G (p.Asp659Gly)
c.1979A>G (p.Asp660Gly)
c.1703A>G (p.Asp568Gly)
c.1865A>G (p.Asp622Gly)
c.1961A>G (p.Asp654Gly)
n.380A>G
c.1922A>G (p.Asp641Gly)
c.1754A>G (p.Asp585Gly)
21g.25897604T>GCA409806353APPn.2000A>C
n.430A>C
n.699A>C
c.2033A>C (p.Asp678Ala)
c.1808A>C (p.Asp603Ala)
c.1640A>C (p.Asp547Ala)
c.1976A>C (p.Asp659Ala)
c.1979A>C (p.Asp660Ala)
c.1703A>C (p.Asp568Ala)
c.1865A>C (p.Asp622Ala)
c.1961A>C (p.Asp654Ala)
n.380A>C
c.1922A>C (p.Asp641Ala)
c.1754A>C (p.Asp585Ala)
21g.25897605C>ACA409806355APPn.1999G>T
n.429G>T
n.698G>T
c.2032G>T (p.Asp678Tyr)
c.1807G>T (p.Asp603Tyr)
c.1639G>T (p.Asp547Tyr)
c.1975G>T (p.Asp659Tyr)
c.1978G>T (p.Asp660Tyr)
c.1702G>T (p.Asp568Tyr)
c.1864G>T (p.Asp622Tyr)
c.1960G>T (p.Asp654Tyr)
n.379G>T
c.1921G>T (p.Asp641Tyr)
c.1753G>T (p.Asp585Tyr)
21g.25897605C=CA2383554914APPn.1999G=
n.429G=
n.698G=
c.2032G= (p.Asp678=)
c.1807G= (p.Asp603=)
c.1639G= (p.Asp547=)
c.1975G= (p.Asp659=)
c.1978G= (p.Asp660=)
c.1702G= (p.Asp568=)
c.1864G= (p.Asp622=)
c.1960G= (p.Asp654=)
n.379G=
c.1921G= (p.Asp641=)
c.1753G= (p.Asp585=)
21g.25897605C>GCA409806357APPn.1999G>C
n.429G>C
n.698G>C
c.2032G>C (p.Asp678His)
c.1807G>C (p.Asp603His)
c.1639G>C (p.Asp547His)
c.1975G>C (p.Asp659His)
c.1978G>C (p.Asp660His)
c.1702G>C (p.Asp568His)
c.1864G>C (p.Asp622His)
c.1960G>C (p.Asp654His)
n.379G>C
c.1921G>C (p.Asp641His)
c.1753G>C (p.Asp585His)
 ClinVar dbSNP
21g.25897605C>TCA225504APPn.1999G>A
n.429G>A
n.698G>A
c.2032G>A (p.Asp678Asn)
c.1807G>A (p.Asp603Asn)
c.1639G>A (p.Asp547Asn)
c.1975G>A (p.Asp659Asn)
c.1978G>A (p.Asp660Asn)
c.1702G>A (p.Asp568Asn)
c.1864G>A (p.Asp622Asn)
c.1960G>A (p.Asp654Asn)
n.379G>A
c.1921G>A (p.Asp641Asn)
c.1753G>A (p.Asp585Asn)
 ClinVar dbSNP
21g.25897606A=CA2383554915APPn.1998T=
n.428T=
n.697T=
c.2031T= (p.His677=)
c.1806T= (p.His602=)
c.1638T= (p.His546=)
c.1974T= (p.His658=)
c.1977T= (p.His659=)
c.1701T= (p.His567=)
c.1863T= (p.His621=)
c.1959T= (p.His653=)
n.378T=
c.1920T= (p.His640=)
c.1752T= (p.His584=)
21g.25897606A>CCA409806360APPn.1998T>G
n.428T>G
n.697T>G
c.2031T>G (p.His677Gln)
c.1806T>G (p.His602Gln)
c.1638T>G (p.His546Gln)
c.1974T>G (p.His658Gln)
c.1977T>G (p.His659Gln)
c.1701T>G (p.His567Gln)
c.1863T>G (p.His621Gln)
c.1959T>G (p.His653Gln)
n.378T>G
c.1920T>G (p.His640Gln)
c.1752T>G (p.His584Gln)
 gnomAD v4
21g.25897606A>GCA511686170APPn.1998T>C
n.428T>C
n.697T>C
c.2031T>C (p.His677=)
c.1806T>C (p.His602=)
c.1638T>C (p.His546=)
c.1974T>C (p.His658=)
c.1977T>C (p.His659=)
c.1701T>C (p.His567=)
c.1863T>C (p.His621=)
c.1959T>C (p.His653=)
n.378T>C
c.1920T>C (p.His640=)
c.1752T>C (p.His584=)
 dbSNP gnomAD v3 gnomAD v4
21g.25897606A>TCA319103401APPn.1998T>A
n.428T>A
n.697T>A
c.2031T>A (p.His677Gln)
c.1806T>A (p.His602Gln)
c.1638T>A (p.His546Gln)
c.1974T>A (p.His658Gln)
c.1977T>A (p.His659Gln)
c.1701T>A (p.His567Gln)
c.1863T>A (p.His621Gln)
c.1959T>A (p.His653Gln)
n.378T>A
c.1920T>A (p.His640Gln)
c.1752T>A (p.His584Gln)
 dbSNP gnomAD v4
21g.25897607T>ACA409806362APPn.1997A>T
n.427A>T
n.696A>T
c.2030A>T (p.His677Leu)
c.1805A>T (p.His602Leu)
c.1637A>T (p.His546Leu)
c.1973A>T (p.His658Leu)
c.1976A>T (p.His659Leu)
c.1700A>T (p.His567Leu)
c.1862A>T (p.His621Leu)
c.1958A>T (p.His653Leu)
n.377A>T
c.1919A>T (p.His640Leu)
c.1751A>T (p.His584Leu)
21g.25897607T>CCA225502APPn.1997A>G
n.427A>G
n.696A>G
c.2030A>G (p.His677Arg)
c.1805A>G (p.His602Arg)
c.1637A>G (p.His546Arg)
c.1973A>G (p.His658Arg)
c.1976A>G (p.His659Arg)
c.1700A>G (p.His567Arg)
c.1862A>G (p.His621Arg)
c.1958A>G (p.His653Arg)
n.377A>G
c.1919A>G (p.His640Arg)
c.1751A>G (p.His584Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.25897607T>GCA409806364APPn.1997A>C
n.427A>C
n.696A>C
c.2030A>C (p.His677Pro)
c.1805A>C (p.His602Pro)
c.1637A>C (p.His546Pro)
c.1973A>C (p.His658Pro)
c.1976A>C (p.His659Pro)
c.1700A>C (p.His567Pro)
c.1862A>C (p.His621Pro)
c.1958A>C (p.His653Pro)
n.377A>C
c.1919A>C (p.His640Pro)
c.1751A>C (p.His584Pro)
21g.25897607T=CA2383554916APPn.1997A=
n.427A=
n.696A=
c.2030A= (p.His677=)
c.1805A= (p.His602=)
c.1637A= (p.His546=)
c.1973A= (p.His658=)
c.1976A= (p.His659=)
c.1700A= (p.His567=)
c.1862A= (p.His621=)
c.1958A= (p.His653=)
n.377A=
c.1919A= (p.His640=)
c.1751A= (p.His584=)
21g.25897608G>ACA409806366APPn.1996C>T
n.426C>T
n.695C>T
c.2029C>T (p.His677Tyr)
c.1804C>T (p.His602Tyr)
c.1636C>T (p.His546Tyr)
c.1972C>T (p.His658Tyr)
c.1975C>T (p.His659Tyr)
c.1699C>T (p.His567Tyr)
c.1861C>T (p.His621Tyr)
c.1957C>T (p.His653Tyr)
n.376C>T
c.1918C>T (p.His640Tyr)
c.1750C>T (p.His584Tyr)
21g.25897608G>CCA409806368APPn.1996C>G
n.426C>G
n.695C>G
c.2029C>G (p.His677Asp)
c.1804C>G (p.His602Asp)
c.1636C>G (p.His546Asp)
c.1972C>G (p.His658Asp)
c.1975C>G (p.His659Asp)
c.1699C>G (p.His567Asp)
c.1861C>G (p.His621Asp)
c.1957C>G (p.His653Asp)
n.376C>G
c.1918C>G (p.His640Asp)
c.1750C>G (p.His584Asp)
21g.25897608G>TCA409806370APPn.1996C>A
n.426C>A
n.695C>A
c.2029C>A (p.His677Asn)
c.1804C>A (p.His602Asn)
c.1636C>A (p.His546Asn)
c.1972C>A (p.His658Asn)
c.1975C>A (p.His659Asn)
c.1699C>A (p.His567Asn)
c.1861C>A (p.His621Asn)
c.1957C>A (p.His653Asn)
n.376C>A
c.1918C>A (p.His640Asn)
c.1750C>A (p.His584Asn)
21g.25897609T>ACA511686173APPn.1995A>T
n.425A>T
n.694A>T
c.2028A>T (p.Arg676=)
c.1803A>T (p.Arg601=)
c.1635A>T (p.Arg545=)
c.1971A>T (p.Arg657=)
c.1974A>T (p.Arg658=)
c.1698A>T (p.Arg566=)
c.1860A>T (p.Arg620=)
c.1956A>T (p.Arg652=)
n.375A>T
c.1917A>T (p.Arg639=)
c.1749A>T (p.Arg583=)
21g.25897609T>CCA9987091APPn.1995A>G
n.425A>G
n.694A>G
c.2028A>G (p.Arg676=)
c.1803A>G (p.Arg601=)
c.1635A>G (p.Arg545=)
c.1971A>G (p.Arg657=)
c.1974A>G (p.Arg658=)
c.1698A>G (p.Arg566=)
c.1860A>G (p.Arg620=)
c.1956A>G (p.Arg652=)
n.375A>G
c.1917A>G (p.Arg639=)
c.1749A>G (p.Arg583=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.25897609T>GCA511686172APPn.1995A>C
n.425A>C
n.694A>C
c.2028A>C (p.Arg676=)
c.1803A>C (p.Arg601=)
c.1635A>C (p.Arg545=)
c.1971A>C (p.Arg657=)
c.1974A>C (p.Arg658=)
c.1698A>C (p.Arg566=)
c.1860A>C (p.Arg620=)
c.1956A>C (p.Arg652=)
n.375A>C
c.1917A>C (p.Arg639=)
c.1749A>C (p.Arg583=)
21g.25897609T=CA2383554917APPn.1995A=
n.425A=
n.694A=
c.2028A= (p.Arg676=)
c.1803A= (p.Arg601=)
c.1635A= (p.Arg545=)
c.1971A= (p.Arg657=)
c.1974A= (p.Arg658=)
c.1698A= (p.Arg566=)
c.1860A= (p.Arg620=)
c.1956A= (p.Arg652=)
n.375A=
c.1917A= (p.Arg639=)
c.1749A= (p.Arg583=)
21g.25897610C>ACA319103425APPn.1994G>T
n.424G>T
n.693G>T
c.2027G>T (p.Arg676Leu)
c.1802G>T (p.Arg601Leu)
c.1634G>T (p.Arg545Leu)
c.1970G>T (p.Arg657Leu)
c.1973G>T (p.Arg658Leu)
c.1697G>T (p.Arg566Leu)
c.1859G>T (p.Arg620Leu)
c.1955G>T (p.Arg652Leu)
n.374G>T
c.1916G>T (p.Arg639Leu)
c.1748G>T (p.Arg583Leu)
 dbSNP gnomAD v4
21g.25897610C=CA2383554918APPn.1994G=
n.424G=
n.693G=
c.2027G= (p.Arg676=)
c.1802G= (p.Arg601=)
c.1634G= (p.Arg545=)
c.1970G= (p.Arg657=)
c.1973G= (p.Arg658=)
c.1697G= (p.Arg566=)
c.1859G= (p.Arg620=)
c.1955G= (p.Arg652=)
n.374G=
c.1916G= (p.Arg639=)
c.1748G= (p.Arg583=)
21g.25897610C>GCA409806375APPn.1994G>C
n.424G>C
n.693G>C
c.2027G>C (p.Arg676Pro)
c.1802G>C (p.Arg601Pro)
c.1634G>C (p.Arg545Pro)
c.1970G>C (p.Arg657Pro)
c.1973G>C (p.Arg658Pro)
c.1697G>C (p.Arg566Pro)
c.1859G>C (p.Arg620Pro)
c.1955G>C (p.Arg652Pro)
n.374G>C
c.1916G>C (p.Arg639Pro)
c.1748G>C (p.Arg583Pro)
 gnomAD v4
21g.25897610C>TCA9987092APPn.1994G>A
n.424G>A
n.693G>A
c.2027G>A (p.Arg676Gln)
c.1802G>A (p.Arg601Gln)
c.1634G>A (p.Arg545Gln)
c.1970G>A (p.Arg657Gln)
c.1973G>A (p.Arg658Gln)
c.1697G>A (p.Arg566Gln)
c.1859G>A (p.Arg620Gln)
c.1955G>A (p.Arg652Gln)
n.374G>A
c.1916G>A (p.Arg639Gln)
c.1748G>A (p.Arg583Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897611G>ACA409806378APPn.1993C>T
n.423C>T
n.692C>T
c.2026C>T (p.Arg676Ter)
c.1801C>T (p.Arg601Ter)
c.1633C>T (p.Arg545Ter)
c.1969C>T (p.Arg657Ter)
c.1972C>T (p.Arg658Ter)
c.1696C>T (p.Arg566Ter)
c.1858C>T (p.Arg620Ter)
c.1954C>T (p.Arg652Ter)
n.373C>T
c.1915C>T (p.Arg639Ter)
c.1747C>T (p.Arg583Ter)
 dbSNP gnomAD v4
21g.25897611G>CCA409806379APPn.1993C>G
n.423C>G
n.692C>G
c.2026C>G (p.Arg676Gly)
c.1801C>G (p.Arg601Gly)
c.1633C>G (p.Arg545Gly)
c.1969C>G (p.Arg657Gly)
c.1972C>G (p.Arg658Gly)
c.1696C>G (p.Arg566Gly)
c.1858C>G (p.Arg620Gly)
c.1954C>G (p.Arg652Gly)
n.373C>G
c.1915C>G (p.Arg639Gly)
c.1747C>G (p.Arg583Gly)
21g.25897611G=CA2383554919APPn.1993C=
n.423C=
n.692C=
c.2026C= (p.Arg676=)
c.1801C= (p.Arg601=)
c.1633C= (p.Arg545=)
c.1969C= (p.Arg657=)
c.1972C= (p.Arg658=)
c.1696C= (p.Arg566=)
c.1858C= (p.Arg620=)
c.1954C= (p.Arg652=)
n.373C=
c.1915C= (p.Arg639=)
c.1747C= (p.Arg583=)
21g.25897611G>TCA511686175APPn.1993C>A
n.423C>A
n.692C>A
c.2026C>A (p.Arg676=)
c.1801C>A (p.Arg601=)
c.1633C>A (p.Arg545=)
c.1969C>A (p.Arg657=)
c.1972C>A (p.Arg658=)
c.1696C>A (p.Arg566=)
c.1858C>A (p.Arg620=)
c.1954C>A (p.Arg652=)
n.373C>A
c.1915C>A (p.Arg639=)
c.1747C>A (p.Arg583=)
 gnomAD v4
21g.25897612G>ACA511686178APPn.1992C>T
n.422C>T
n.691C>T
c.2025C>T (p.Phe675=)
c.1800C>T (p.Phe600=)
c.1632C>T (p.Phe544=)
c.1968C>T (p.Phe656=)
c.1971C>T (p.Phe657=)
c.1695C>T (p.Phe565=)
c.1857C>T (p.Phe619=)
c.1953C>T (p.Phe651=)
n.372C>T
c.1914C>T (p.Phe638=)
c.1746C>T (p.Phe582=)
 gnomAD v4
21g.25897612G>CCA409806380APPn.1992C>G
n.422C>G
n.691C>G
c.2025C>G (p.Phe675Leu)
c.1800C>G (p.Phe600Leu)
c.1632C>G (p.Phe544Leu)
c.1968C>G (p.Phe656Leu)
c.1971C>G (p.Phe657Leu)
c.1695C>G (p.Phe565Leu)
c.1857C>G (p.Phe619Leu)
c.1953C>G (p.Phe651Leu)
n.372C>G
c.1914C>G (p.Phe638Leu)
c.1746C>G (p.Phe582Leu)
21g.25897612G>TCA409806381APPn.1992C>A
n.422C>A
n.691C>A
c.2025C>A (p.Phe675Leu)
c.1800C>A (p.Phe600Leu)
c.1632C>A (p.Phe544Leu)
c.1968C>A (p.Phe656Leu)
c.1971C>A (p.Phe657Leu)
c.1695C>A (p.Phe565Leu)
c.1857C>A (p.Phe619Leu)
c.1953C>A (p.Phe651Leu)
n.372C>A
c.1914C>A (p.Phe638Leu)
c.1746C>A (p.Phe582Leu)
21g.25897613A>CCA409806384APPn.1991T>G
n.421T>G
n.690T>G
c.2024T>G (p.Phe675Cys)
c.1799T>G (p.Phe600Cys)
c.1631T>G (p.Phe544Cys)
c.1967T>G (p.Phe656Cys)
c.1970T>G (p.Phe657Cys)
c.1694T>G (p.Phe565Cys)
c.1856T>G (p.Phe619Cys)
c.1952T>G (p.Phe651Cys)
n.371T>G
c.1913T>G (p.Phe638Cys)
c.1745T>G (p.Phe582Cys)
21g.25897613A>GCA409806385APPn.1991T>C
n.421T>C
n.690T>C
c.2024T>C (p.Phe675Ser)
c.1799T>C (p.Phe600Ser)
c.1631T>C (p.Phe544Ser)
c.1967T>C (p.Phe656Ser)
c.1970T>C (p.Phe657Ser)
c.1694T>C (p.Phe565Ser)
c.1856T>C (p.Phe619Ser)
c.1952T>C (p.Phe651Ser)
n.371T>C
c.1913T>C (p.Phe638Ser)
c.1745T>C (p.Phe582Ser)
21g.25897613A>TCA409806387APPn.1991T>A
n.421T>A
n.690T>A
c.2024T>A (p.Phe675Tyr)
c.1799T>A (p.Phe600Tyr)
c.1631T>A (p.Phe544Tyr)
c.1967T>A (p.Phe656Tyr)
c.1970T>A (p.Phe657Tyr)
c.1694T>A (p.Phe565Tyr)
c.1856T>A (p.Phe619Tyr)
c.1952T>A (p.Phe651Tyr)
n.371T>A
c.1913T>A (p.Phe638Tyr)
c.1745T>A (p.Phe582Tyr)
21g.25897614_25897621delCA2654123338APPn.1984_1991del
n.414_421del
n.683_690del
c.2017_2024del (p.Ala673ProfsTer3)
c.1792_1799del (p.Ala598ProfsTer3)
c.1624_1631del (p.Ala542ProfsTer3)
c.1960_1967del (p.Ala654ProfsTer3)
c.1963_1970del (p.Ala655ProfsTer3)
c.1687_1694del (p.Ala563ProfsTer3)
c.1849_1856del (p.Ala617ProfsTer3)
c.1945_1952del (p.Ala649ProfsTer3)
n.364_371del
c.1906_1913del (p.Ala636ProfsTer3)
c.1738_1745del (p.Ala580ProfsTer3)
 gnomAD v4
21g.25897614A=CA2383554920APPn.1990T=
n.420T=
n.689T=
c.2023T= (p.Phe675=)
c.1798T= (p.Phe600=)
c.1630T= (p.Phe544=)
c.1966T= (p.Phe656=)
c.1969T= (p.Phe657=)
c.1693T= (p.Phe565=)
c.1855T= (p.Phe619=)
c.1951T= (p.Phe651=)
n.370T=
c.1912T= (p.Phe638=)
c.1744T= (p.Phe582=)
21g.25897614A>CCA409806389APPn.1990T>G
n.420T>G
n.689T>G
c.2023T>G (p.Phe675Val)
c.1798T>G (p.Phe600Val)
c.1630T>G (p.Phe544Val)
c.1966T>G (p.Phe656Val)
c.1969T>G (p.Phe657Val)
c.1693T>G (p.Phe565Val)
c.1855T>G (p.Phe619Val)
c.1951T>G (p.Phe651Val)
n.370T>G
c.1912T>G (p.Phe638Val)
c.1744T>G (p.Phe582Val)
21g.25897614A>GCA409806391APPn.1990T>C
n.420T>C
n.689T>C
c.2023T>C (p.Phe675Leu)
c.1798T>C (p.Phe600Leu)
c.1630T>C (p.Phe544Leu)
c.1966T>C (p.Phe656Leu)
c.1969T>C (p.Phe657Leu)
c.1693T>C (p.Phe565Leu)
c.1855T>C (p.Phe619Leu)
c.1951T>C (p.Phe651Leu)
n.370T>C
c.1912T>C (p.Phe638Leu)
c.1744T>C (p.Phe582Leu)
21g.25897614A>TCA9987093APPn.1990T>A
n.420T>A
n.689T>A
c.2023T>A (p.Phe675Ile)
c.1798T>A (p.Phe600Ile)
c.1630T>A (p.Phe544Ile)
c.1966T>A (p.Phe656Ile)
c.1969T>A (p.Phe657Ile)
c.1693T>A (p.Phe565Ile)
c.1855T>A (p.Phe619Ile)
c.1951T>A (p.Phe651Ile)
n.370T>A
c.1912T>A (p.Phe638Ile)
c.1744T>A (p.Phe582Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.25897615T>ACA409806394APPn.1989A>T
n.419A>T
n.688A>T
c.2022A>T (p.Glu674Asp)
c.1797A>T (p.Glu599Asp)
c.1629A>T (p.Glu543Asp)
c.1965A>T (p.Glu655Asp)
c.1968A>T (p.Glu656Asp)
c.1692A>T (p.Glu564Asp)
c.1854A>T (p.Glu618Asp)
c.1950A>T (p.Glu650Asp)
n.369A>T
c.1911A>T (p.Glu637Asp)
c.1743A>T (p.Glu581Asp)
21g.25897615T>CCA319103431APPn.1989A>G
n.419A>G
n.688A>G
c.2022A>G (p.Glu674=)
c.1797A>G (p.Glu599=)
c.1629A>G (p.Glu543=)
c.1965A>G (p.Glu655=)
c.1968A>G (p.Glu656=)
c.1692A>G (p.Glu564=)
c.1854A>G (p.Glu618=)
c.1950A>G (p.Glu650=)
n.369A>G
c.1911A>G (p.Glu637=)
c.1743A>G (p.Glu581=)
 dbSNP
21g.25897615T>GCA409806396APPn.1989A>C
n.419A>C
n.688A>C
c.2022A>C (p.Glu674Asp)
c.1797A>C (p.Glu599Asp)
c.1629A>C (p.Glu543Asp)
c.1965A>C (p.Glu655Asp)
c.1968A>C (p.Glu656Asp)
c.1692A>C (p.Glu564Asp)
c.1854A>C (p.Glu618Asp)
c.1950A>C (p.Glu650Asp)
n.369A>C
c.1911A>C (p.Glu637Asp)
c.1743A>C (p.Glu581Asp)
21g.25897615T=CA2383554921APPn.1989A=
n.419A=
n.688A=
c.2022A= (p.Glu674=)
c.1797A= (p.Glu599=)
c.1629A= (p.Glu543=)
c.1965A= (p.Glu655=)
c.1968A= (p.Glu656=)
c.1692A= (p.Glu564=)
c.1854A= (p.Glu618=)
c.1950A= (p.Glu650=)
n.369A=
c.1911A= (p.Glu637=)
c.1743A= (p.Glu581=)
21g.25897616T>ACA409806399APPn.1988A>T
n.418A>T
n.687A>T
c.2021A>T (p.Glu674Val)
c.1796A>T (p.Glu599Val)
c.1628A>T (p.Glu543Val)
c.1964A>T (p.Glu655Val)
c.1967A>T (p.Glu656Val)
c.1691A>T (p.Glu564Val)
c.1853A>T (p.Glu618Val)
c.1949A>T (p.Glu650Val)
n.368A>T
c.1910A>T (p.Glu637Val)
c.1742A>T (p.Glu581Val)
21g.25897616T>CCA409806402APPn.1988A>G
n.418A>G
n.687A>G
c.2021A>G (p.Glu674Gly)
c.1796A>G (p.Glu599Gly)
c.1628A>G (p.Glu543Gly)
c.1964A>G (p.Glu655Gly)
c.1967A>G (p.Glu656Gly)
c.1691A>G (p.Glu564Gly)
c.1853A>G (p.Glu618Gly)
c.1949A>G (p.Glu650Gly)
n.368A>G
c.1910A>G (p.Glu637Gly)
c.1742A>G (p.Glu581Gly)
 dbSNP gnomAD v4
21g.25897616T>GCA409806401APPn.1988A>C
n.418A>C
n.687A>C
c.2021A>C (p.Glu674Ala)
c.1796A>C (p.Glu599Ala)
c.1628A>C (p.Glu543Ala)
c.1964A>C (p.Glu655Ala)
c.1967A>C (p.Glu656Ala)
c.1691A>C (p.Glu564Ala)
c.1853A>C (p.Glu618Ala)
c.1949A>C (p.Glu650Ala)
n.368A>C
c.1910A>C (p.Glu637Ala)
c.1742A>C (p.Glu581Ala)
21g.25897616T=CA2383554922APPn.1988A=
n.418A=
n.687A=
c.2021A= (p.Glu674=)
c.1796A= (p.Glu599=)
c.1628A= (p.Glu543=)
c.1964A= (p.Glu655=)
c.1967A= (p.Glu656=)
c.1691A= (p.Glu564=)
c.1853A= (p.Glu618=)
c.1949A= (p.Glu650=)
n.368A=
c.1910A= (p.Glu637=)
c.1742A= (p.Glu581=)
21g.25897617C>ACA409806405APPn.1987G>T
n.417G>T
n.686G>T
c.2020G>T (p.Glu674Ter)
c.1795G>T (p.Glu599Ter)
c.1627G>T (p.Glu543Ter)
c.1963G>T (p.Glu655Ter)
c.1966G>T (p.Glu656Ter)
c.1690G>T (p.Glu564Ter)
c.1852G>T (p.Glu618Ter)
c.1948G>T (p.Glu650Ter)
n.367G>T
c.1909G>T (p.Glu637Ter)
c.1741G>T (p.Glu581Ter)
 COSMIC
21g.25897617C=CA2383554923APPn.1987G=
n.417G=
n.686G=
c.2020G= (p.Glu674=)
c.1795G= (p.Glu599=)
c.1627G= (p.Glu543=)
c.1963G= (p.Glu655=)
c.1966G= (p.Glu656=)
c.1690G= (p.Glu564=)
c.1852G= (p.Glu618=)
c.1948G= (p.Glu650=)
n.367G=
c.1909G= (p.Glu637=)
c.1741G= (p.Glu581=)
21g.25897617C>GCA9987094APPn.1987G>C
n.417G>C
n.686G>C
c.2020G>C (p.Glu674Gln)
c.1795G>C (p.Glu599Gln)
c.1627G>C (p.Glu543Gln)
c.1963G>C (p.Glu655Gln)
c.1966G>C (p.Glu656Gln)
c.1690G>C (p.Glu564Gln)
c.1852G>C (p.Glu618Gln)
c.1948G>C (p.Glu650Gln)
n.367G>C
c.1909G>C (p.Glu637Gln)
c.1741G>C (p.Glu581Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897617C>TCA319103437APPn.1987G>A
n.417G>A
n.686G>A
c.2020G>A (p.Glu674Lys)
c.1795G>A (p.Glu599Lys)
c.1627G>A (p.Glu543Lys)
c.1963G>A (p.Glu655Lys)
c.1966G>A (p.Glu656Lys)
c.1690G>A (p.Glu564Lys)
c.1852G>A (p.Glu618Lys)
c.1948G>A (p.Glu650Lys)
n.367G>A
c.1909G>A (p.Glu637Lys)
c.1741G>A (p.Glu581Lys)
 dbSNP gnomAD v4
21g.25897618T>ACA511686188APPn.1986A>T
n.416A>T
n.685A>T
c.2019A>T (p.Ala673=)
c.1794A>T (p.Ala598=)
c.1626A>T (p.Ala542=)
c.1962A>T (p.Ala654=)
c.1965A>T (p.Ala655=)
c.1689A>T (p.Ala563=)
c.1851A>T (p.Ala617=)
c.1947A>T (p.Ala649=)
n.366A>T
c.1908A>T (p.Ala636=)
c.1740A>T (p.Ala580=)
21g.25897618T>CCA511686187APPn.1986A>G
n.416A>G
n.685A>G
c.2019A>G (p.Ala673=)
c.1794A>G (p.Ala598=)
c.1626A>G (p.Ala542=)
c.1962A>G (p.Ala654=)
c.1965A>G (p.Ala655=)
c.1689A>G (p.Ala563=)
c.1851A>G (p.Ala617=)
c.1947A>G (p.Ala649=)
n.366A>G
c.1908A>G (p.Ala636=)
c.1740A>G (p.Ala580=)
 gnomAD v4
21g.25897618T>GCA511686189APPn.1986A>C
n.416A>C
n.685A>C
c.2019A>C (p.Ala673=)
c.1794A>C (p.Ala598=)
c.1626A>C (p.Ala542=)
c.1962A>C (p.Ala654=)
c.1965A>C (p.Ala655=)
c.1689A>C (p.Ala563=)
c.1851A>C (p.Ala617=)
c.1947A>C (p.Ala649=)
n.366A>C
c.1908A>C (p.Ala636=)
c.1740A>C (p.Ala580=)
 ClinVar gnomAD v4
21g.25897619G>ACA258118APPn.1985C>T
n.415C>T
n.684C>T
c.2018C>T (p.Ala673Val)
c.1793C>T (p.Ala598Val)
c.1625C>T (p.Ala542Val)
c.1961C>T (p.Ala654Val)
c.1964C>T (p.Ala655Val)
c.1688C>T (p.Ala563Val)
c.1850C>T (p.Ala617Val)
c.1946C>T (p.Ala649Val)
n.365C>T
c.1907C>T (p.Ala636Val)
c.1739C>T (p.Ala580Val)
 ClinVar dbSNP
21g.25897619G>CCA409806410APPn.1985C>G
n.415C>G
n.684C>G
c.2018C>G (p.Ala673Gly)
c.1793C>G (p.Ala598Gly)
c.1625C>G (p.Ala542Gly)
c.1961C>G (p.Ala654Gly)
c.1964C>G (p.Ala655Gly)
c.1688C>G (p.Ala563Gly)
c.1850C>G (p.Ala617Gly)
c.1946C>G (p.Ala649Gly)
n.365C>G
c.1907C>G (p.Ala636Gly)
c.1739C>G (p.Ala580Gly)
 dbSNP
21g.25897619G=CA2383554924APPn.1985C=
n.415C=
n.684C=
c.2018C= (p.Ala673=)
c.1793C= (p.Ala598=)
c.1625C= (p.Ala542=)
c.1961C= (p.Ala654=)
c.1964C= (p.Ala655=)
c.1688C= (p.Ala563=)
c.1850C= (p.Ala617=)
c.1946C= (p.Ala649=)
n.365C=
c.1907C= (p.Ala636=)
c.1739C= (p.Ala580=)
21g.25897619G>TCA409806411APPn.1985C>A
n.415C>A
n.684C>A
c.2018C>A (p.Ala673Glu)
c.1793C>A (p.Ala598Glu)
c.1625C>A (p.Ala542Glu)
c.1961C>A (p.Ala654Glu)
c.1964C>A (p.Ala655Glu)
c.1688C>A (p.Ala563Glu)
c.1850C>A (p.Ala617Glu)
c.1946C>A (p.Ala649Glu)
n.365C>A
c.1907C>A (p.Ala636Glu)
c.1739C>A (p.Ala580Glu)
21g.25897620C>ACA409806416APPn.1984G>T
n.414G>T
n.683G>T
c.2017G>T (p.Ala673Ser)
c.1792G>T (p.Ala598Ser)
c.1624G>T (p.Ala542Ser)
c.1960G>T (p.Ala654Ser)
c.1963G>T (p.Ala655Ser)
c.1687G>T (p.Ala563Ser)
c.1849G>T (p.Ala617Ser)
c.1945G>T (p.Ala649Ser)
n.364G>T
c.1906G>T (p.Ala636Ser)
c.1738G>T (p.Ala580Ser)
21g.25897620C=CA2383554925APPn.1984G=
n.414G=
n.683G=
c.2017G= (p.Ala673=)
c.1792G= (p.Ala598=)
c.1624G= (p.Ala542=)
c.1960G= (p.Ala654=)
c.1963G= (p.Ala655=)
c.1687G= (p.Ala563=)
c.1849G= (p.Ala617=)
c.1945G= (p.Ala649=)
n.364G=
c.1906G= (p.Ala636=)
c.1738G= (p.Ala580=)
21g.25897620C>GCA409806413APPn.1984G>C
n.414G>C
n.683G>C
c.2017G>C (p.Ala673Pro)
c.1792G>C (p.Ala598Pro)
c.1624G>C (p.Ala542Pro)
c.1960G>C (p.Ala654Pro)
c.1963G>C (p.Ala655Pro)
c.1687G>C (p.Ala563Pro)
c.1849G>C (p.Ala617Pro)
c.1945G>C (p.Ala649Pro)
n.364G>C
c.1906G>C (p.Ala636Pro)
c.1738G>C (p.Ala580Pro)
21g.25897620C>TCA130092APPn.1984G>A
n.414G>A
n.683G>A
c.2017G>A (p.Ala673Thr)
c.1792G>A (p.Ala598Thr)
c.1624G>A (p.Ala542Thr)
c.1960G>A (p.Ala654Thr)
c.1963G>A (p.Ala655Thr)
c.1687G>A (p.Ala563Thr)
c.1849G>A (p.Ala617Thr)
c.1945G>A (p.Ala649Thr)
n.364G>A
c.1906G>A (p.Ala636Thr)
c.1738G>A (p.Ala580Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897621A>CCA409806418APPn.1983T>G
n.413T>G
n.682T>G
c.2016T>G (p.Asp672Glu)
c.1791T>G (p.Asp597Glu)
c.1623T>G (p.Asp541Glu)
c.1959T>G (p.Asp653Glu)
c.1962T>G (p.Asp654Glu)
c.1686T>G (p.Asp562Glu)
c.1848T>G (p.Asp616Glu)
c.1944T>G (p.Asp648Glu)
n.363T>G
c.1905T>G (p.Asp635Glu)
c.1737T>G (p.Asp579Glu)
 gnomAD v4
21g.25897621A>GCA511686213APPn.1983T>C
n.413T>C
n.682T>C
c.2016T>C (p.Asp672=)
c.1791T>C (p.Asp597=)
c.1623T>C (p.Asp541=)
c.1959T>C (p.Asp653=)
c.1962T>C (p.Asp654=)
c.1686T>C (p.Asp562=)
c.1848T>C (p.Asp616=)
c.1944T>C (p.Asp648=)
n.363T>C
c.1905T>C (p.Asp635=)
c.1737T>C (p.Asp579=)
21g.25897621A>TCA409806419APPn.1983T>A
n.413T>A
n.682T>A
c.2016T>A (p.Asp672Glu)
c.1791T>A (p.Asp597Glu)
c.1623T>A (p.Asp541Glu)
c.1959T>A (p.Asp653Glu)
c.1962T>A (p.Asp654Glu)
c.1686T>A (p.Asp562Glu)
c.1848T>A (p.Asp616Glu)
c.1944T>A (p.Asp648Glu)
n.363T>A
c.1905T>A (p.Asp635Glu)
c.1737T>A (p.Asp579Glu)
21g.25897622T>ACA409806421APPn.1982A>T
n.412A>T
n.681A>T
c.2015A>T (p.Asp672Val)
c.1790A>T (p.Asp597Val)
c.1622A>T (p.Asp541Val)
c.1958A>T (p.Asp653Val)
c.1961A>T (p.Asp654Val)
c.1685A>T (p.Asp562Val)
c.1847A>T (p.Asp616Val)
c.1943A>T (p.Asp648Val)
n.362A>T
c.1904A>T (p.Asp635Val)
c.1736A>T (p.Asp579Val)
21g.25897622T>CCA409806423APPn.1982A>G
n.412A>G
n.681A>G
c.2015A>G (p.Asp672Gly)
c.1790A>G (p.Asp597Gly)
c.1622A>G (p.Asp541Gly)
c.1958A>G (p.Asp653Gly)
c.1961A>G (p.Asp654Gly)
c.1685A>G (p.Asp562Gly)
c.1847A>G (p.Asp616Gly)
c.1943A>G (p.Asp648Gly)
n.362A>G
c.1904A>G (p.Asp635Gly)
c.1736A>G (p.Asp579Gly)
21g.25897622T>GCA409806424APPn.1982A>C
n.412A>C
n.681A>C
c.2015A>C (p.Asp672Ala)
c.1790A>C (p.Asp597Ala)
c.1622A>C (p.Asp541Ala)
c.1958A>C (p.Asp653Ala)
c.1961A>C (p.Asp654Ala)
c.1685A>C (p.Asp562Ala)
c.1847A>C (p.Asp616Ala)
c.1943A>C (p.Asp648Ala)
n.362A>C
c.1904A>C (p.Asp635Ala)
c.1736A>C (p.Asp579Ala)
21g.25897623C>ACA409806430APPn.1981G>T
n.411G>T
n.680G>T
c.2014G>T (p.Asp672Tyr)
c.1789G>T (p.Asp597Tyr)
c.1621G>T (p.Asp541Tyr)
c.1957G>T (p.Asp653Tyr)
c.1960G>T (p.Asp654Tyr)
c.1684G>T (p.Asp562Tyr)
c.1846G>T (p.Asp616Tyr)
c.1942G>T (p.Asp648Tyr)
n.361G>T
c.1903G>T (p.Asp635Tyr)
c.1735G>T (p.Asp579Tyr)
21g.25897623C>GCA409806426APPn.1981G>C
n.411G>C
n.680G>C
c.2014G>C (p.Asp672His)
c.1789G>C (p.Asp597His)
c.1621G>C (p.Asp541His)
c.1957G>C (p.Asp653His)
c.1960G>C (p.Asp654His)
c.1684G>C (p.Asp562His)
c.1846G>C (p.Asp616His)
c.1942G>C (p.Asp648His)
n.361G>C
c.1903G>C (p.Asp635His)
c.1735G>C (p.Asp579His)
21g.25897623C>TCA409806428APPn.1981G>A
n.411G>A
n.680G>A
c.2014G>A (p.Asp672Asn)
c.1789G>A (p.Asp597Asn)
c.1621G>A (p.Asp541Asn)
c.1957G>A (p.Asp653Asn)
c.1960G>A (p.Asp654Asn)
c.1684G>A (p.Asp562Asn)
c.1846G>A (p.Asp616Asn)
c.1942G>A (p.Asp648Asn)
n.361G>A
c.1903G>A (p.Asp635Asn)
c.1735G>A (p.Asp579Asn)
21g.25897624C>ACA409806432APPn.1980G>T
n.410G>T
n.679G>T
c.2013G>T (p.Met671Ile)
c.1788G>T (p.Met596Ile)
c.1620G>T (p.Met540Ile)
c.1956G>T (p.Met652Ile)
c.1959G>T (p.Met653Ile)
c.1683G>T (p.Met561Ile)
c.1845G>T (p.Met615Ile)
c.1941G>T (p.Met647Ile)
n.360G>T
c.1902G>T (p.Met634Ile)
c.1734G>T (p.Met578Ile)
21g.25897624C>GCA409806434APPn.1980G>C
n.410G>C
n.679G>C
c.2013G>C (p.Met671Ile)
c.1788G>C (p.Met596Ile)
c.1620G>C (p.Met540Ile)
c.1956G>C (p.Met652Ile)
c.1959G>C (p.Met653Ile)
c.1683G>C (p.Met561Ile)
c.1845G>C (p.Met615Ile)
c.1941G>C (p.Met647Ile)
n.360G>C
c.1902G>C (p.Met634Ile)
c.1734G>C (p.Met578Ile)
21g.25897624C>TCA409806436APPn.1980G>A
n.410G>A
n.679G>A
c.2013G>A (p.Met671Ile)
c.1788G>A (p.Met596Ile)
c.1620G>A (p.Met540Ile)
c.1956G>A (p.Met652Ile)
c.1959G>A (p.Met653Ile)
c.1683G>A (p.Met561Ile)
c.1845G>A (p.Met615Ile)
c.1941G>A (p.Met647Ile)
n.360G>A
c.1902G>A (p.Met634Ile)
c.1734G>A (p.Met578Ile)
21g.25897625A=CA2383554926APPn.1979T=
n.409T=
n.678T=
c.2012T= (p.Met671=)
c.1787T= (p.Met596=)
c.1619T= (p.Met540=)
c.1955T= (p.Met652=)
c.1958T= (p.Met653=)
c.1682T= (p.Met561=)
c.1844T= (p.Met615=)
c.1940T= (p.Met647=)
n.359T=
c.1901T= (p.Met634=)
c.1733T= (p.Met578=)
21g.25897625A>CCA409806438APPn.1979T>G
n.409T>G
n.678T>G
c.2012T>G (p.Met671Arg)
c.1787T>G (p.Met596Arg)
c.1619T>G (p.Met540Arg)
c.1955T>G (p.Met652Arg)
c.1958T>G (p.Met653Arg)
c.1682T>G (p.Met561Arg)
c.1844T>G (p.Met615Arg)
c.1940T>G (p.Met647Arg)
n.359T>G
c.1901T>G (p.Met634Arg)
c.1733T>G (p.Met578Arg)
21g.25897625A>GCA409806440APPn.1979T>C
n.409T>C
n.678T>C
c.2012T>C (p.Met671Thr)
c.1787T>C (p.Met596Thr)
c.1619T>C (p.Met540Thr)
c.1955T>C (p.Met652Thr)
c.1958T>C (p.Met653Thr)
c.1682T>C (p.Met561Thr)
c.1844T>C (p.Met615Thr)
c.1940T>C (p.Met647Thr)
n.359T>C
c.1901T>C (p.Met634Thr)
c.1733T>C (p.Met578Thr)
 ClinVar dbSNP
21g.25897625A>TCA409806442APPn.1979T>A
n.409T>A
n.678T>A
c.2012T>A (p.Met671Lys)
c.1787T>A (p.Met596Lys)
c.1619T>A (p.Met540Lys)
c.1955T>A (p.Met652Lys)
c.1958T>A (p.Met653Lys)
c.1682T>A (p.Met561Lys)
c.1844T>A (p.Met615Lys)
c.1940T>A (p.Met647Lys)
n.359T>A
c.1901T>A (p.Met634Lys)
c.1733T>A (p.Met578Lys)
21g.25897626T>ACA319103456APPn.1978A>T
n.408A>T
n.677A>T
c.2011A>T (p.Met671Leu)
c.1786A>T (p.Met596Leu)
c.1618A>T (p.Met540Leu)
c.1954A>T (p.Met652Leu)
c.1957A>T (p.Met653Leu)
c.1681A>T (p.Met561Leu)
c.1843A>T (p.Met615Leu)
c.1939A>T (p.Met647Leu)
n.358A>T
c.1900A>T (p.Met634Leu)
c.1732A>T (p.Met578Leu)
 ClinVar dbSNP
21g.25897626T>CCA409806445APPn.1978A>G
n.408A>G
n.677A>G
c.2011A>G (p.Met671Val)
c.1786A>G (p.Met596Val)
c.1618A>G (p.Met540Val)
c.1954A>G (p.Met652Val)
c.1957A>G (p.Met653Val)
c.1681A>G (p.Met561Val)
c.1843A>G (p.Met615Val)
c.1939A>G (p.Met647Val)
n.358A>G
c.1900A>G (p.Met634Val)
c.1732A>G (p.Met578Val)
21g.25897626T>GCA409806447APPn.1978A>C
n.408A>C
n.677A>C
c.2011A>C (p.Met671Leu)
c.1786A>C (p.Met596Leu)
c.1618A>C (p.Met540Leu)
c.1954A>C (p.Met652Leu)
c.1957A>C (p.Met653Leu)
c.1681A>C (p.Met561Leu)
c.1843A>C (p.Met615Leu)
c.1939A>C (p.Met647Leu)
n.358A>C
c.1900A>C (p.Met634Leu)
c.1732A>C (p.Met578Leu)
 dbSNP
21g.25897626T=CA2383554927APPn.1978A=
n.408A=
n.677A=
c.2011A= (p.Met671=)
c.1786A= (p.Met596=)
c.1618A= (p.Met540=)
c.1954A= (p.Met652=)
c.1957A= (p.Met653=)
c.1681A= (p.Met561=)
c.1843A= (p.Met615=)
c.1939A= (p.Met647=)
n.358A=
c.1900A= (p.Met634=)
c.1732A= (p.Met578=)
21g.25897626_25897627delinsGACA127795APPn.1977_1978delinsTC
n.407_408delinsTC
n.676_677delinsTC
c.2010_2011delinsTC (p.Lys670_Met671delinsAsnLeu)
c.1785_1786delinsTC (p.Lys595_Met596delinsAsnLeu)
c.1617_1618delinsTC (p.Lys539_Met540delinsAsnLeu)
c.1953_1954delinsTC (p.Lys651_Met652delinsAsnLeu)
c.1956_1957delinsTC (p.Lys652_Met653delinsAsnLeu)
c.1680_1681delinsTC (p.Lys560_Met561delinsAsnLeu)
c.1842_1843delinsTC (p.Lys614_Met615delinsAsnLeu)
c.1938_1939delinsTC (p.Lys646_Met647delinsAsnLeu)
n.357_358delinsTC
c.1899_1900delinsTC (p.Lys633_Met634delinsAsnLeu)
c.1731_1732delinsTC (p.Lys577_Met578delinsAsnLeu)
 ClinVar dbSNP
21g.25897626_25897627delinsTCCA2383554928APPn.1977_1978delinsGA
n.407_408delinsGA
n.676_677delinsGA
c.2010_2011delinsGA (p.Lys670=)
c.1785_1786delinsGA (p.Lys595=)
c.1617_1618delinsGA (p.Lys539=)
c.1953_1954delinsGA (p.Lys651=)
c.1956_1957delinsGA (p.Lys652=)
c.1680_1681delinsGA (p.Lys560=)
c.1842_1843delinsGA (p.Lys614=)
c.1938_1939delinsGA (p.Lys646=)
n.357_358delinsGA
c.1899_1900delinsGA (p.Lys633=)
c.1731_1732delinsGA (p.Lys577=)
21g.25897627C>ACA319103474APPn.1977G>T
n.407G>T
n.676G>T
c.2010G>T (p.Lys670Asn)
c.1785G>T (p.Lys595Asn)
c.1617G>T (p.Lys539Asn)
c.1953G>T (p.Lys651Asn)
c.1956G>T (p.Lys652Asn)
c.1680G>T (p.Lys560Asn)
c.1842G>T (p.Lys614Asn)
c.1938G>T (p.Lys646Asn)
n.357G>T
c.1899G>T (p.Lys633Asn)
c.1731G>T (p.Lys577Asn)
 dbSNP
21g.25897627C=CA2383554929APPn.1977G=
n.407G=
n.676G=
c.2010G= (p.Lys670=)
c.1785G= (p.Lys595=)
c.1617G= (p.Lys539=)
c.1953G= (p.Lys651=)
c.1956G= (p.Lys652=)
c.1680G= (p.Lys560=)
c.1842G= (p.Lys614=)
c.1938G= (p.Lys646=)
n.357G=
c.1899G= (p.Lys633=)
c.1731G= (p.Lys577=)
21g.25897627C>GCA409806451APPn.1977G>C
n.407G>C
n.676G>C
c.2010G>C (p.Lys670Asn)
c.1785G>C (p.Lys595Asn)
c.1617G>C (p.Lys539Asn)
c.1953G>C (p.Lys651Asn)
c.1956G>C (p.Lys652Asn)
c.1680G>C (p.Lys560Asn)
c.1842G>C (p.Lys614Asn)
c.1938G>C (p.Lys646Asn)
n.357G>C
c.1899G>C (p.Lys633Asn)
c.1731G>C (p.Lys577Asn)
21g.25897627C>TCA9987095APPn.1977G>A
n.407G>A
n.676G>A
c.2010G>A (p.Lys670=)
c.1785G>A (p.Lys595=)
c.1617G>A (p.Lys539=)
c.1953G>A (p.Lys651=)
c.1956G>A (p.Lys652=)
c.1680G>A (p.Lys560=)
c.1842G>A (p.Lys614=)
c.1938G>A (p.Lys646=)
n.357G>A
c.1899G>A (p.Lys633=)
c.1731G>A (p.Lys577=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.25897628T>ACA409806455APPn.1976A>T
n.406A>T
n.675A>T
c.2009A>T (p.Lys670Met)
c.1784A>T (p.Lys595Met)
c.1616A>T (p.Lys539Met)
c.1952A>T (p.Lys651Met)
c.1955A>T (p.Lys652Met)
c.1679A>T (p.Lys560Met)
c.1841A>T (p.Lys614Met)
c.1937A>T (p.Lys646Met)
n.356A>T
c.1898A>T (p.Lys633Met)
c.1730A>T (p.Lys577Met)
21g.25897628T>CCA409806458APPn.1976A>G
n.406A>G
n.675A>G
c.2009A>G (p.Lys670Arg)
c.1784A>G (p.Lys595Arg)
c.1616A>G (p.Lys539Arg)
c.1952A>G (p.Lys651Arg)
c.1955A>G (p.Lys652Arg)
c.1679A>G (p.Lys560Arg)
c.1841A>G (p.Lys614Arg)
c.1937A>G (p.Lys646Arg)
n.356A>G
c.1898A>G (p.Lys633Arg)
c.1730A>G (p.Lys577Arg)
 dbSNP gnomAD v4
21g.25897628T>GCA409806456APPn.1976A>C
n.406A>C
n.675A>C
c.2009A>C (p.Lys670Thr)
c.1784A>C (p.Lys595Thr)
c.1616A>C (p.Lys539Thr)
c.1952A>C (p.Lys651Thr)
c.1955A>C (p.Lys652Thr)
c.1679A>C (p.Lys560Thr)
c.1841A>C (p.Lys614Thr)
c.1937A>C (p.Lys646Thr)
n.356A>C
c.1898A>C (p.Lys633Thr)
c.1730A>C (p.Lys577Thr)
21g.25897628T=CA2383554930APPn.1976A=
n.406A=
n.675A=
c.2009A= (p.Lys670=)
c.1784A= (p.Lys595=)
c.1616A= (p.Lys539=)
c.1952A= (p.Lys651=)
c.1955A= (p.Lys652=)
c.1679A= (p.Lys560=)
c.1841A= (p.Lys614=)
c.1937A= (p.Lys646=)
n.356A=
c.1898A= (p.Lys633=)
c.1730A= (p.Lys577=)
21g.25897629T>ACA409806460APPn.1975A>T
n.405A>T
n.674A>T
c.2008A>T (p.Lys670Ter)
c.1783A>T (p.Lys595Ter)
c.1615A>T (p.Lys539Ter)
c.1951A>T (p.Lys651Ter)
c.1954A>T (p.Lys652Ter)
c.1678A>T (p.Lys560Ter)
c.1840A>T (p.Lys614Ter)
c.1936A>T (p.Lys646Ter)
n.355A>T
c.1897A>T (p.Lys633Ter)
c.1729A>T (p.Lys577Ter)
21g.25897629T>CCA409806461APPn.1975A>G
n.405A>G
n.674A>G
c.2008A>G (p.Lys670Glu)
c.1783A>G (p.Lys595Glu)
c.1615A>G (p.Lys539Glu)
c.1951A>G (p.Lys651Glu)
c.1954A>G (p.Lys652Glu)
c.1678A>G (p.Lys560Glu)
c.1840A>G (p.Lys614Glu)
c.1936A>G (p.Lys646Glu)
n.355A>G
c.1897A>G (p.Lys633Glu)
c.1729A>G (p.Lys577Glu)
 dbSNP
21g.25897629T>GCA409806463APPn.1975A>C
n.405A>C
n.674A>C
c.2008A>C (p.Lys670Gln)
c.1783A>C (p.Lys595Gln)
c.1615A>C (p.Lys539Gln)
c.1951A>C (p.Lys651Gln)
c.1954A>C (p.Lys652Gln)
c.1678A>C (p.Lys560Gln)
c.1840A>C (p.Lys614Gln)
c.1936A>C (p.Lys646Gln)
n.355A>C
c.1897A>C (p.Lys633Gln)
c.1729A>C (p.Lys577Gln)
21g.25897629T=CA2383554931APPn.1975A=
n.405A=
n.674A=
c.2008A= (p.Lys670=)
c.1783A= (p.Lys595=)
c.1615A= (p.Lys539=)
c.1951A= (p.Lys651=)
c.1954A= (p.Lys652=)
c.1678A= (p.Lys560=)
c.1840A= (p.Lys614=)
c.1936A= (p.Lys646=)
n.355A=
c.1897A= (p.Lys633=)
c.1729A= (p.Lys577=)
21g.25897630C>ACA511686244APPn.1974G>T
n.404G>T
n.673G>T
c.2007G>T (p.Val669=)
c.1782G>T (p.Val594=)
c.1614G>T (p.Val538=)
c.1950G>T (p.Val650=)
c.1953G>T (p.Val651=)
c.1677G>T (p.Val559=)
c.1839G>T (p.Val613=)
c.1935G>T (p.Val645=)
n.354G>T
c.1896G>T (p.Val632=)
c.1728G>T (p.Val576=)
21g.25897630C=CA2383554932APPn.1974G=
n.404G=
n.673G=
c.2007G= (p.Val669=)
c.1782G= (p.Val594=)
c.1614G= (p.Val538=)
c.1950G= (p.Val650=)
c.1953G= (p.Val651=)
c.1677G= (p.Val559=)
c.1839G= (p.Val613=)
c.1935G= (p.Val645=)
n.354G=
c.1896G= (p.Val632=)
c.1728G= (p.Val576=)
21g.25897630C>GCA511686241APPn.1974G>C
n.404G>C
n.673G>C
c.2007G>C (p.Val669=)
c.1782G>C (p.Val594=)
c.1614G>C (p.Val538=)
c.1950G>C (p.Val650=)
c.1953G>C (p.Val651=)
c.1677G>C (p.Val559=)
c.1839G>C (p.Val613=)
c.1935G>C (p.Val645=)
n.354G>C
c.1896G>C (p.Val632=)
c.1728G>C (p.Val576=)
21g.25897630C>TCA9987096APPn.1974G>A
n.404G>A
n.673G>A
c.2007G>A (p.Val669=)
c.1782G>A (p.Val594=)
c.1614G>A (p.Val538=)
c.1950G>A (p.Val650=)
c.1953G>A (p.Val651=)
c.1677G>A (p.Val559=)
c.1839G>A (p.Val613=)
c.1935G>A (p.Val645=)
n.354G>A
c.1896G>A (p.Val632=)
c.1728G>A (p.Val576=)
 dbSNP ExAC
21g.25897631A=CA2383554933APPn.1973T=
n.403T=
n.672T=
c.2006T= (p.Val669=)
c.1781T= (p.Val594=)
c.1613T= (p.Val538=)
c.1949T= (p.Val650=)
c.1952T= (p.Val651=)
c.1676T= (p.Val559=)
c.1838T= (p.Val613=)
c.1934T= (p.Val645=)
n.353T=
c.1895T= (p.Val632=)
c.1727T= (p.Val576=)
21g.25897631A>CCA409806465APPn.1973T>G
n.403T>G
n.672T>G
c.2006T>G (p.Val669Gly)
c.1781T>G (p.Val594Gly)
c.1613T>G (p.Val538Gly)
c.1949T>G (p.Val650Gly)
c.1952T>G (p.Val651Gly)
c.1676T>G (p.Val559Gly)
c.1838T>G (p.Val613Gly)
c.1934T>G (p.Val645Gly)
n.353T>G
c.1895T>G (p.Val632Gly)
c.1727T>G (p.Val576Gly)
21g.25897631A>GCA9987097APPn.1973T>C
n.403T>C
n.672T>C
c.2006T>C (p.Val669Ala)
c.1781T>C (p.Val594Ala)
c.1613T>C (p.Val538Ala)
c.1949T>C (p.Val650Ala)
c.1952T>C (p.Val651Ala)
c.1676T>C (p.Val559Ala)
c.1838T>C (p.Val613Ala)
c.1934T>C (p.Val645Ala)
n.353T>C
c.1895T>C (p.Val632Ala)
c.1727T>C (p.Val576Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.25897631A>TCA409806468APPn.1973T>A
n.403T>A
n.672T>A
c.2006T>A (p.Val669Glu)
c.1781T>A (p.Val594Glu)
c.1613T>A (p.Val538Glu)
c.1949T>A (p.Val650Glu)
c.1952T>A (p.Val651Glu)
c.1676T>A (p.Val559Glu)
c.1838T>A (p.Val613Glu)
c.1934T>A (p.Val645Glu)
n.353T>A
c.1895T>A (p.Val632Glu)
c.1727T>A (p.Val576Glu)
21g.25897632C>ACA409806469APPn.1972G>T
n.402G>T
n.671G>T
c.2005G>T (p.Val669Leu)
c.1780G>T (p.Val594Leu)
c.1612G>T (p.Val538Leu)
c.1948G>T (p.Val650Leu)
c.1951G>T (p.Val651Leu)
c.1675G>T (p.Val559Leu)
c.1837G>T (p.Val613Leu)
c.1933G>T (p.Val645Leu)
n.352G>T
c.1894G>T (p.Val632Leu)
c.1726G>T (p.Val576Leu)
21g.25897632C=CA2383554934APPn.1972G=
n.402G=
n.671G=
c.2005G= (p.Val669=)
c.1780G= (p.Val594=)
c.1612G= (p.Val538=)
c.1948G= (p.Val650=)
c.1951G= (p.Val651=)
c.1675G= (p.Val559=)
c.1837G= (p.Val613=)
c.1933G= (p.Val645=)
n.352G=
c.1894G= (p.Val632=)
c.1726G= (p.Val576=)
21g.25897632C>GCA409806471APPn.1972G>C
n.402G>C
n.671G>C
c.2005G>C (p.Val669Leu)
c.1780G>C (p.Val594Leu)
c.1612G>C (p.Val538Leu)
c.1948G>C (p.Val650Leu)
c.1951G>C (p.Val651Leu)
c.1675G>C (p.Val559Leu)
c.1837G>C (p.Val613Leu)
c.1933G>C (p.Val645Leu)
n.352G>C
c.1894G>C (p.Val632Leu)
c.1726G>C (p.Val576Leu)
21g.25897632C>TCA409806473APPn.1972G>A
n.402G>A
n.671G>A
c.2005G>A (p.Val669Met)
c.1780G>A (p.Val594Met)
c.1612G>A (p.Val538Met)
c.1948G>A (p.Val650Met)
c.1951G>A (p.Val651Met)
c.1675G>A (p.Val559Met)
c.1837G>A (p.Val613Met)
c.1933G>A (p.Val645Met)
n.352G>A
c.1894G>A (p.Val632Met)
c.1726G>A (p.Val576Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.25897633T>ACA409806474APPn.1971A>T
n.401A>T
n.670A>T
c.2004A>T (p.Glu668Asp)
c.1779A>T (p.Glu593Asp)
c.1611A>T (p.Glu537Asp)
c.1947A>T (p.Glu649Asp)
c.1950A>T (p.Glu650Asp)
c.1674A>T (p.Glu558Asp)
c.1836A>T (p.Glu612Asp)
c.1932A>T (p.Glu644Asp)
n.351A>T
c.1893A>T (p.Glu631Asp)
c.1725A>T (p.Glu575Asp)
21g.25897633T>CCA511686251APPn.1971A>G
n.401A>G
n.670A>G
c.2004A>G (p.Glu668=)
c.1779A>G (p.Glu593=)
c.1611A>G (p.Glu537=)
c.1947A>G (p.Glu649=)
c.1950A>G (p.Glu650=)
c.1674A>G (p.Glu558=)
c.1836A>G (p.Glu612=)
c.1932A>G (p.Glu644=)
n.351A>G
c.1893A>G (p.Glu631=)
c.1725A>G (p.Glu575=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.25897633T>GCA409806476APPn.1971A>C
n.401A>C
n.670A>C
c.2004A>C (p.Glu668Asp)
c.1779A>C (p.Glu593Asp)
c.1611A>C (p.Glu537Asp)
c.1947A>C (p.Glu649Asp)
c.1950A>C (p.Glu650Asp)
c.1674A>C (p.Glu558Asp)
c.1836A>C (p.Glu612Asp)
c.1932A>C (p.Glu644Asp)
n.351A>C
c.1893A>C (p.Glu631Asp)
c.1725A>C (p.Glu575Asp)
21g.25897633T=CA2383554935APPn.1971A=
n.401A=
n.670A=
c.2004A= (p.Glu668=)
c.1779A= (p.Glu593=)
c.1611A= (p.Glu537=)
c.1947A= (p.Glu649=)
c.1950A= (p.Glu650=)
c.1674A= (p.Glu558=)
c.1836A= (p.Glu612=)
c.1932A= (p.Glu644=)
n.351A=
c.1893A= (p.Glu631=)
c.1725A= (p.Glu575=)
21g.25897634T>ACA409806482APPn.1970A>T
n.400A>T
n.669A>T
c.2003A>T (p.Glu668Val)
c.1778A>T (p.Glu593Val)
c.1610A>T (p.Glu537Val)
c.1946A>T (p.Glu649Val)
c.1949A>T (p.Glu650Val)
c.1673A>T (p.Glu558Val)
c.1835A>T (p.Glu612Val)
c.1931A>T (p.Glu644Val)
n.350A>T
c.1892A>T (p.Glu631Val)
c.1724A>T (p.Glu575Val)
21g.25897634T>CCA409806479APPn.1970A>G
n.400A>G
n.669A>G
c.2003A>G (p.Glu668Gly)
c.1778A>G (p.Glu593Gly)
c.1610A>G (p.Glu537Gly)
c.1946A>G (p.Glu649Gly)
c.1949A>G (p.Glu650Gly)
c.1673A>G (p.Glu558Gly)
c.1835A>G (p.Glu612Gly)
c.1931A>G (p.Glu644Gly)
n.350A>G
c.1892A>G (p.Glu631Gly)
c.1724A>G (p.Glu575Gly)
21g.25897634T>GCA409806480APPn.1970A>C
n.400A>C
n.669A>C
c.2003A>C (p.Glu668Ala)
c.1778A>C (p.Glu593Ala)
c.1610A>C (p.Glu537Ala)
c.1946A>C (p.Glu649Ala)
c.1949A>C (p.Glu650Ala)
c.1673A>C (p.Glu558Ala)
c.1835A>C (p.Glu612Ala)
c.1931A>C (p.Glu644Ala)
n.350A>C
c.1892A>C (p.Glu631Ala)
c.1724A>C (p.Glu575Ala)
21g.25897635C>ACA409806485APPn.1969G>T
n.399G>T
n.668G>T
c.2002G>T (p.Glu668Ter)
c.1777G>T (p.Glu593Ter)
c.1609G>T (p.Glu537Ter)
c.1945G>T (p.Glu649Ter)
c.1948G>T (p.Glu650Ter)
c.1672G>T (p.Glu558Ter)
c.1834G>T (p.Glu612Ter)
c.1930G>T (p.Glu644Ter)
n.349G>T
c.1891G>T (p.Glu631Ter)
c.1723G>T (p.Glu575Ter)
21g.25897635C>GCA409806486APPn.1969G>C
n.399G>C
n.668G>C
c.2002G>C (p.Glu668Gln)
c.1777G>C (p.Glu593Gln)
c.1609G>C (p.Glu537Gln)
c.1945G>C (p.Glu649Gln)
c.1948G>C (p.Glu650Gln)
c.1672G>C (p.Glu558Gln)
c.1834G>C (p.Glu612Gln)
c.1930G>C (p.Glu644Gln)
n.349G>C
c.1891G>C (p.Glu631Gln)
c.1723G>C (p.Glu575Gln)
21g.25897635C>TCA409806487APPn.1969G>A
n.399G>A
n.668G>A
c.2002G>A (p.Glu668Lys)
c.1777G>A (p.Glu593Lys)
c.1609G>A (p.Glu537Lys)
c.1945G>A (p.Glu649Lys)
c.1948G>A (p.Glu650Lys)
c.1672G>A (p.Glu558Lys)
c.1834G>A (p.Glu612Lys)
c.1930G>A (p.Glu644Lys)
n.349G>A
c.1891G>A (p.Glu631Lys)
c.1723G>A (p.Glu575Lys)
 COSMIC
21g.25897636A=CA2383554936APPn.1968T=
n.398T=
n.667T=
c.2001T= (p.Ser667=)
c.1776T= (p.Ser592=)
c.1608T= (p.Ser536=)
c.1944T= (p.Ser648=)
c.1947T= (p.Ser649=)
c.1671T= (p.Ser557=)
c.1833T= (p.Ser611=)
c.1929T= (p.Ser643=)
n.348T=
c.1890T= (p.Ser630=)
c.1722T= (p.Ser574=)
21g.25897636A>CCA511686259APPn.1968T>G
n.398T>G
n.667T>G
c.2001T>G (p.Ser667=)
c.1776T>G (p.Ser592=)
c.1608T>G (p.Ser536=)
c.1944T>G (p.Ser648=)
c.1947T>G (p.Ser649=)
c.1671T>G (p.Ser557=)
c.1833T>G (p.Ser611=)
c.1929T>G (p.Ser643=)
n.348T>G
c.1890T>G (p.Ser630=)
c.1722T>G (p.Ser574=)
21g.25897636A>GCA511686261APPn.1968T>C
n.398T>C
n.667T>C
c.2001T>C (p.Ser667=)
c.1776T>C (p.Ser592=)
c.1608T>C (p.Ser536=)
c.1944T>C (p.Ser648=)
c.1947T>C (p.Ser649=)
c.1671T>C (p.Ser557=)
c.1833T>C (p.Ser611=)
c.1929T>C (p.Ser643=)
n.348T>C
c.1890T>C (p.Ser630=)
c.1722T>C (p.Ser574=)
 dbSNP
21g.25897636A>TCA511686263APPn.1968T>A
n.398T>A
n.667T>A
c.2001T>A (p.Ser667=)
c.1776T>A (p.Ser592=)
c.1608T>A (p.Ser536=)
c.1944T>A (p.Ser648=)
c.1947T>A (p.Ser649=)
c.1671T>A (p.Ser557=)
c.1833T>A (p.Ser611=)
c.1929T>A (p.Ser643=)
n.348T>A
c.1890T>A (p.Ser630=)
c.1722T>A (p.Ser574=)
21g.25897637G>ACA409806490APPn.1967C>T
n.397C>T
n.666C>T
c.2000C>T (p.Ser667Phe)
c.1775C>T (p.Ser592Phe)
c.1607C>T (p.Ser536Phe)
c.1943C>T (p.Ser648Phe)
c.1946C>T (p.Ser649Phe)
c.1670C>T (p.Ser557Phe)
c.1832C>T (p.Ser611Phe)
c.1928C>T (p.Ser643Phe)
n.347C>T
c.1889C>T (p.Ser630Phe)
c.1721C>T (p.Ser574Phe)
21g.25897637G>CCA409806492APPn.1967C>G
n.397C>G
n.666C>G
c.2000C>G (p.Ser667Cys)
c.1775C>G (p.Ser592Cys)
c.1607C>G (p.Ser536Cys)
c.1943C>G (p.Ser648Cys)
c.1946C>G (p.Ser649Cys)
c.1670C>G (p.Ser557Cys)
c.1832C>G (p.Ser611Cys)
c.1928C>G (p.Ser643Cys)
n.347C>G
c.1889C>G (p.Ser630Cys)
c.1721C>G (p.Ser574Cys)
21g.25897637G>TCA409806494APPn.1967C>A
n.397C>A
n.666C>A
c.2000C>A (p.Ser667Tyr)
c.1775C>A (p.Ser592Tyr)
c.1607C>A (p.Ser536Tyr)
c.1943C>A (p.Ser648Tyr)
c.1946C>A (p.Ser649Tyr)
c.1670C>A (p.Ser557Tyr)
c.1832C>A (p.Ser611Tyr)
c.1928C>A (p.Ser643Tyr)
n.347C>A
c.1889C>A (p.Ser630Tyr)
c.1721C>A (p.Ser574Tyr)
21g.25897638A>CCA409806497APPn.1966T>G
n.396T>G
n.665T>G
c.1999T>G (p.Ser667Ala)
c.1774T>G (p.Ser592Ala)
c.1606T>G (p.Ser536Ala)
c.1942T>G (p.Ser648Ala)
c.1945T>G (p.Ser649Ala)
c.1669T>G (p.Ser557Ala)
c.1831T>G (p.Ser611Ala)
c.1927T>G (p.Ser643Ala)
n.346T>G
c.1888T>G (p.Ser630Ala)
c.1720T>G (p.Ser574Ala)
21g.25897638A>GCA409806498APPn.1966T>C
n.396T>C
n.665T>C
c.1999T>C (p.Ser667Pro)
c.1774T>C (p.Ser592Pro)
c.1606T>C (p.Ser536Pro)
c.1942T>C (p.Ser648Pro)
c.1945T>C (p.Ser649Pro)
c.1669T>C (p.Ser557Pro)
c.1831T>C (p.Ser611Pro)
c.1927T>C (p.Ser643Pro)
n.346T>C
c.1888T>C (p.Ser630Pro)
c.1720T>C (p.Ser574Pro)
21g.25897638A>TCA409806500APPn.1966T>A
n.396T>A
n.665T>A
c.1999T>A (p.Ser667Thr)
c.1774T>A (p.Ser592Thr)
c.1606T>A (p.Ser536Thr)
c.1942T>A (p.Ser648Thr)
c.1945T>A (p.Ser649Thr)
c.1669T>A (p.Ser557Thr)
c.1831T>A (p.Ser611Thr)
c.1927T>A (p.Ser643Thr)
n.346T>A
c.1888T>A (p.Ser630Thr)
c.1720T>A (p.Ser574Thr)
21g.25897639G>ACA9987098APPn.1965C>T
n.395C>T
n.664C>T
c.1998C>T (p.Ile666=)
c.1773C>T (p.Ile591=)
c.1605C>T (p.Ile535=)
c.1941C>T (p.Ile647=)
c.1944C>T (p.Ile648=)
c.1668C>T (p.Ile556=)
c.1830C>T (p.Ile610=)
c.1926C>T (p.Ile642=)
n.345C>T
c.1887C>T (p.Ile629=)
c.1719C>T (p.Ile573=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897639G>CCA319103501APPn.1965C>G
n.395C>G
n.664C>G
c.1998C>G (p.Ile666Met)
c.1773C>G (p.Ile591Met)
c.1605C>G (p.Ile535Met)
c.1941C>G (p.Ile647Met)
c.1944C>G (p.Ile648Met)
c.1668C>G (p.Ile556Met)
c.1830C>G (p.Ile610Met)
c.1926C>G (p.Ile642Met)
n.345C>G
c.1887C>G (p.Ile629Met)
c.1719C>G (p.Ile573Met)
 dbSNP gnomAD v4
21g.25897639G=CA2383554937APPn.1965C=
n.395C=
n.664C=
c.1998C= (p.Ile666=)
c.1773C= (p.Ile591=)
c.1605C= (p.Ile535=)
c.1941C= (p.Ile647=)
c.1944C= (p.Ile648=)
c.1668C= (p.Ile556=)
c.1830C= (p.Ile610=)
c.1926C= (p.Ile642=)
n.345C=
c.1887C= (p.Ile629=)
c.1719C= (p.Ile573=)
21g.25897639G>TCA511686276APPn.1965C>A
n.395C>A
n.664C>A
c.1998C>A (p.Ile666=)
c.1773C>A (p.Ile591=)
c.1605C>A (p.Ile535=)
c.1941C>A (p.Ile647=)
c.1944C>A (p.Ile648=)
c.1668C>A (p.Ile556=)
c.1830C>A (p.Ile610=)
c.1926C>A (p.Ile642=)
n.345C>A
c.1887C>A (p.Ile629=)
c.1719C>A (p.Ile573=)
21g.25897640A=CA2383554938APPn.1964T=
n.394T=
n.663T=
c.1997T= (p.Ile666=)
c.1772T= (p.Ile591=)
c.1604T= (p.Ile535=)
c.1940T= (p.Ile647=)
c.1943T= (p.Ile648=)
c.1667T= (p.Ile556=)
c.1829T= (p.Ile610=)
c.1925T= (p.Ile642=)
n.344T=
c.1886T= (p.Ile629=)
c.1718T= (p.Ile573=)
21g.25897640A>CCA409806507APPn.1964T>G
n.394T>G
n.663T>G
c.1997T>G (p.Ile666Ser)
c.1772T>G (p.Ile591Ser)
c.1604T>G (p.Ile535Ser)
c.1940T>G (p.Ile647Ser)
c.1943T>G (p.Ile648Ser)
c.1667T>G (p.Ile556Ser)
c.1829T>G (p.Ile610Ser)
c.1925T>G (p.Ile642Ser)
n.344T>G
c.1886T>G (p.Ile629Ser)
c.1718T>G (p.Ile573Ser)
21g.25897640A>GCA9987099APPn.1964T>C
n.394T>C
n.663T>C
c.1997T>C (p.Ile666Thr)
c.1772T>C (p.Ile591Thr)
c.1604T>C (p.Ile535Thr)
c.1940T>C (p.Ile647Thr)
c.1943T>C (p.Ile648Thr)
c.1667T>C (p.Ile556Thr)
c.1829T>C (p.Ile610Thr)
c.1925T>C (p.Ile642Thr)
n.344T>C
c.1886T>C (p.Ile629Thr)
c.1718T>C (p.Ile573Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.25897640A>TCA409806505APPn.1964T>A
n.394T>A
n.663T>A
c.1997T>A (p.Ile666Asn)
c.1772T>A (p.Ile591Asn)
c.1604T>A (p.Ile535Asn)
c.1940T>A (p.Ile647Asn)
c.1943T>A (p.Ile648Asn)
c.1667T>A (p.Ile556Asn)
c.1829T>A (p.Ile610Asn)
c.1925T>A (p.Ile642Asn)
n.344T>A
c.1886T>A (p.Ile629Asn)
c.1718T>A (p.Ile573Asn)
21g.25897641T>ACA9987100APPn.1963A>T
n.393A>T
n.662A>T
c.1996A>T (p.Ile666Phe)
c.1771A>T (p.Ile591Phe)
c.1603A>T (p.Ile535Phe)
c.1939A>T (p.Ile647Phe)
c.1942A>T (p.Ile648Phe)
c.1666A>T (p.Ile556Phe)
c.1828A>T (p.Ile610Phe)
c.1924A>T (p.Ile642Phe)
n.343A>T
c.1885A>T (p.Ile629Phe)
c.1717A>T (p.Ile573Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897641T>CCA409806512APPn.1963A>G
n.393A>G
n.662A>G
c.1996A>G (p.Ile666Val)
c.1771A>G (p.Ile591Val)
c.1603A>G (p.Ile535Val)
c.1939A>G (p.Ile647Val)
c.1942A>G (p.Ile648Val)
c.1666A>G (p.Ile556Val)
c.1828A>G (p.Ile610Val)
c.1924A>G (p.Ile642Val)
n.343A>G
c.1885A>G (p.Ile629Val)
c.1717A>G (p.Ile573Val)
21g.25897641T>GCA409806510APPn.1963A>C
n.393A>C
n.662A>C
c.1996A>C (p.Ile666Leu)
c.1771A>C (p.Ile591Leu)
c.1603A>C (p.Ile535Leu)
c.1939A>C (p.Ile647Leu)
c.1942A>C (p.Ile648Leu)
c.1666A>C (p.Ile556Leu)
c.1828A>C (p.Ile610Leu)
c.1924A>C (p.Ile642Leu)
n.343A>C
c.1885A>C (p.Ile629Leu)
c.1717A>C (p.Ile573Leu)
 gnomAD v4
21g.25897641T=CA2383554939APPn.1963A=
n.393A=
n.662A=
c.1996A= (p.Ile666=)
c.1771A= (p.Ile591=)
c.1603A= (p.Ile535=)
c.1939A= (p.Ile647=)
c.1942A= (p.Ile648=)
c.1666A= (p.Ile556=)
c.1828A= (p.Ile610=)
c.1924A= (p.Ile642=)
n.343A=
c.1885A= (p.Ile629=)
c.1717A= (p.Ile573=)
21g.25897641_25897644delinsTCTCCA2383554940APPn.1960_1963delinsGAGA
n.390_393delinsGAGA
n.659_662delinsGAGA
c.1993_1996delinsGAGA (p.Glu665=)
c.1768_1771delinsGAGA (p.Glu590=)
c.1600_1603delinsGAGA (p.Glu534=)
c.1936_1939delinsGAGA (p.Glu646=)
c.1939_1942delinsGAGA (p.Glu647=)
c.1663_1666delinsGAGA (p.Glu555=)
c.1825_1828delinsGAGA (p.Glu609=)
c.1921_1924delinsGAGA (p.Glu641=)
n.340_343delinsGAGA
c.1882_1885delinsGAGA (p.Glu628=)
c.1714_1717delinsGAGA (p.Glu572=)
21g.25897642C>ACA409806514APPn.1962G>T
n.392G>T
n.661G>T
c.1995G>T (p.Glu665Asp)
c.1770G>T (p.Glu590Asp)
c.1602G>T (p.Glu534Asp)
c.1938G>T (p.Glu646Asp)
c.1941G>T (p.Glu647Asp)
c.1665G>T (p.Glu555Asp)
c.1827G>T (p.Glu609Asp)
c.1923G>T (p.Glu641Asp)
n.342G>T
c.1884G>T (p.Glu628Asp)
c.1716G>T (p.Glu572Asp)
 gnomAD v4
21g.25897642C=CA2383554941APPn.1962G=
n.392G=
n.661G=
c.1995G= (p.Glu665=)
c.1770G= (p.Glu590=)
c.1602G= (p.Glu534=)
c.1938G= (p.Glu646=)
c.1941G= (p.Glu647=)
c.1665G= (p.Glu555=)
c.1827G= (p.Glu609=)
c.1923G= (p.Glu641=)
n.342G=
c.1884G= (p.Glu628=)
c.1716G= (p.Glu572=)
21g.25897642C>GCA127797APPn.1962G>C
n.392G>C
n.661G>C
c.1995G>C (p.Glu665Asp)
c.1770G>C (p.Glu590Asp)
c.1602G>C (p.Glu534Asp)
c.1938G>C (p.Glu646Asp)
c.1941G>C (p.Glu647Asp)
c.1665G>C (p.Glu555Asp)
c.1827G>C (p.Glu609Asp)
c.1923G>C (p.Glu641Asp)
n.342G>C
c.1884G>C (p.Glu628Asp)
c.1716G>C (p.Glu572Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897642C>TCA511686286APPn.1962G>A
n.392G>A
n.661G>A
c.1995G>A (p.Glu665=)
c.1770G>A (p.Glu590=)
c.1602G>A (p.Glu534=)
c.1938G>A (p.Glu646=)
c.1941G>A (p.Glu647=)
c.1665G>A (p.Glu555=)
c.1827G>A (p.Glu609=)
c.1923G>A (p.Glu641=)
n.342G>A
c.1884G>A (p.Glu628=)
c.1716G>A (p.Glu572=)
 gnomAD v4
21g.25897646_25897648dupCA748247763APPn.1960_1962dup
n.390_392dup
n.659_661dup
c.1993_1995dup (p.Glu665_Ile666insGlu)
c.1768_1770dup (p.Glu590_Ile591insGlu)
c.1600_1602dup (p.Glu534_Ile535insGlu)
c.1936_1938dup (p.Glu646_Ile647insGlu)
c.1939_1941dup (p.Glu647_Ile648insGlu)
c.1663_1665dup (p.Glu555_Ile556insGlu)
c.1825_1827dup (p.Glu609_Ile610insGlu)
c.1921_1923dup (p.Glu641_Ile642insGlu)
n.340_342dup
c.1882_1884dup (p.Glu628_Ile629insGlu)
c.1714_1716dup (p.Glu572_Ile573insGlu)
 dbSNP gnomAD v4
21g.25897646_25897648delCA9987101APPn.1960_1962del
n.390_392del
n.659_661del
c.1993_1995del (p.Glu665del)
c.1768_1770del (p.Glu590del)
c.1600_1602del (p.Glu534del)
c.1936_1938del (p.Glu646del)
c.1939_1941del (p.Glu647del)
c.1663_1665del (p.Glu555del)
c.1825_1827del (p.Glu609del)
c.1921_1923del (p.Glu641del)
n.340_342del
c.1882_1884del (p.Glu628del)
c.1714_1716del (p.Glu572del)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.25897643T>ACA409806518APPn.1961A>T
n.391A>T
n.660A>T
c.1994A>T (p.Glu665Val)
c.1769A>T (p.Glu590Val)
c.1601A>T (p.Glu534Val)
c.1937A>T (p.Glu646Val)
c.1940A>T (p.Glu647Val)
c.1664A>T (p.Glu555Val)
c.1826A>T (p.Glu609Val)
c.1922A>T (p.Glu641Val)
n.341A>T
c.1883A>T (p.Glu628Val)
c.1715A>T (p.Glu572Val)
21g.25897643T>CCA409806519APPn.1961A>G
n.391A>G
n.660A>G
c.1994A>G (p.Glu665Gly)
c.1769A>G (p.Glu590Gly)
c.1601A>G (p.Glu534Gly)
c.1937A>G (p.Glu646Gly)
c.1940A>G (p.Glu647Gly)
c.1664A>G (p.Glu555Gly)
c.1826A>G (p.Glu609Gly)
c.1922A>G (p.Glu641Gly)
n.341A>G
c.1883A>G (p.Glu628Gly)
c.1715A>G (p.Glu572Gly)
21g.25897643T>GCA409806521APPn.1961A>C
n.391A>C
n.660A>C
c.1994A>C (p.Glu665Ala)
c.1769A>C (p.Glu590Ala)
c.1601A>C (p.Glu534Ala)
c.1937A>C (p.Glu646Ala)
c.1940A>C (p.Glu647Ala)
c.1664A>C (p.Glu555Ala)
c.1826A>C (p.Glu609Ala)
c.1922A>C (p.Glu641Ala)
n.341A>C
c.1883A>C (p.Glu628Ala)
c.1715A>C (p.Glu572Ala)
21g.25897644C>ACA409806525APPn.1960G>T
n.390G>T
n.659G>T
c.1993G>T (p.Glu665Ter)
c.1768G>T (p.Glu590Ter)
c.1600G>T (p.Glu534Ter)
c.1936G>T (p.Glu646Ter)
c.1939G>T (p.Glu647Ter)
c.1663G>T (p.Glu555Ter)
c.1825G>T (p.Glu609Ter)
c.1921G>T (p.Glu641Ter)
n.340G>T
c.1882G>T (p.Glu628Ter)
c.1714G>T (p.Glu572Ter)
21g.25897644C=CA2383554942APPn.1960G=
n.390G=
n.659G=
c.1993G= (p.Glu665=)
c.1768G= (p.Glu590=)
c.1600G= (p.Glu534=)
c.1936G= (p.Glu646=)
c.1939G= (p.Glu647=)
c.1663G= (p.Glu555=)
c.1825G= (p.Glu609=)
c.1921G= (p.Glu641=)
n.340G=
c.1882G= (p.Glu628=)
c.1714G= (p.Glu572=)
21g.25897644C>GCA409806523APPn.1960G>C
n.390G>C
n.659G>C
c.1993G>C (p.Glu665Gln)
c.1768G>C (p.Glu590Gln)
c.1600G>C (p.Glu534Gln)
c.1936G>C (p.Glu646Gln)
c.1939G>C (p.Glu647Gln)
c.1663G>C (p.Glu555Gln)
c.1825G>C (p.Glu609Gln)
c.1921G>C (p.Glu641Gln)
n.340G>C
c.1882G>C (p.Glu628Gln)
c.1714G>C (p.Glu572Gln)
21g.25897644C>TCA9987102APPn.1960G>A
n.390G>A
n.659G>A
c.1993G>A (p.Glu665Lys)
c.1768G>A (p.Glu590Lys)
c.1600G>A (p.Glu534Lys)
c.1936G>A (p.Glu646Lys)
c.1939G>A (p.Glu647Lys)
c.1663G>A (p.Glu555Lys)
c.1825G>A (p.Glu609Lys)
c.1921G>A (p.Glu641Lys)
n.340G>A
c.1882G>A (p.Glu628Lys)
c.1714G>A (p.Glu572Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897645C>ACA409806528APPn.1959G>T
n.389G>T
n.658G>T
c.1992G>T (p.Glu664Asp)
c.1767G>T (p.Glu589Asp)
c.1599G>T (p.Glu533Asp)
c.1935G>T (p.Glu645Asp)
c.1938G>T (p.Glu646Asp)
c.1662G>T (p.Glu554Asp)
c.1824G>T (p.Glu608Asp)
c.1920G>T (p.Glu640Asp)
n.339G>T
c.1881G>T (p.Glu627Asp)
c.1713G>T (p.Glu571Asp)
21g.25897645C>GCA409806529APPn.1959G>C
n.389G>C
n.658G>C
c.1992G>C (p.Glu664Asp)
c.1767G>C (p.Glu589Asp)
c.1599G>C (p.Glu533Asp)
c.1935G>C (p.Glu645Asp)
c.1938G>C (p.Glu646Asp)
c.1662G>C (p.Glu554Asp)
c.1824G>C (p.Glu608Asp)
c.1920G>C (p.Glu640Asp)
n.339G>C
c.1881G>C (p.Glu627Asp)
c.1713G>C (p.Glu571Asp)
21g.25897645C>TCA511686300APPn.1959G>A
n.389G>A
n.658G>A
c.1992G>A (p.Glu664=)
c.1767G>A (p.Glu589=)
c.1599G>A (p.Glu533=)
c.1935G>A (p.Glu645=)
c.1938G>A (p.Glu646=)
c.1662G>A (p.Glu554=)
c.1824G>A (p.Glu608=)
c.1920G>A (p.Glu640=)
n.339G>A
c.1881G>A (p.Glu627=)
c.1713G>A (p.Glu571=)
 gnomAD v4
21g.25897646T>ACA409806531APPn.1958A>T
n.388A>T
n.657A>T
c.1991A>T (p.Glu664Val)
c.1766A>T (p.Glu589Val)
c.1598A>T (p.Glu533Val)
c.1934A>T (p.Glu645Val)
c.1937A>T (p.Glu646Val)
c.1661A>T (p.Glu554Val)
c.1823A>T (p.Glu608Val)
c.1919A>T (p.Glu640Val)
n.338A>T
c.1880A>T (p.Glu627Val)
c.1712A>T (p.Glu571Val)
21g.25897646T>CCA409806533APPn.1958A>G
n.388A>G
n.657A>G
c.1991A>G (p.Glu664Gly)
c.1766A>G (p.Glu589Gly)
c.1598A>G (p.Glu533Gly)
c.1934A>G (p.Glu645Gly)
c.1937A>G (p.Glu646Gly)
c.1661A>G (p.Glu554Gly)
c.1823A>G (p.Glu608Gly)
c.1919A>G (p.Glu640Gly)
n.338A>G
c.1880A>G (p.Glu627Gly)
c.1712A>G (p.Glu571Gly)
21g.25897646T>GCA409806535APPn.1958A>C
n.388A>C
n.657A>C
c.1991A>C (p.Glu664Ala)
c.1766A>C (p.Glu589Ala)
c.1598A>C (p.Glu533Ala)
c.1934A>C (p.Glu645Ala)
c.1937A>C (p.Glu646Ala)
c.1661A>C (p.Glu554Ala)
c.1823A>C (p.Glu608Ala)
c.1919A>C (p.Glu640Ala)
n.338A>C
c.1880A>C (p.Glu627Ala)
c.1712A>C (p.Glu571Ala)
21g.25897647C>ACA409806541APPn.1957G>T
n.387G>T
n.656G>T
c.1990G>T (p.Glu664Ter)
c.1765G>T (p.Glu589Ter)
c.1597G>T (p.Glu533Ter)
c.1933G>T (p.Glu645Ter)
c.1936G>T (p.Glu646Ter)
c.1660G>T (p.Glu554Ter)
c.1822G>T (p.Glu608Ter)
c.1918G>T (p.Glu640Ter)
n.337G>T
c.1879G>T (p.Glu627Ter)
c.1711G>T (p.Glu571Ter)
21g.25897647C>GCA409806537APPn.1957G>C
n.387G>C
n.656G>C
c.1990G>C (p.Glu664Gln)
c.1765G>C (p.Glu589Gln)
c.1597G>C (p.Glu533Gln)
c.1933G>C (p.Glu645Gln)
c.1936G>C (p.Glu646Gln)
c.1660G>C (p.Glu554Gln)
c.1822G>C (p.Glu608Gln)
c.1918G>C (p.Glu640Gln)
n.337G>C
c.1879G>C (p.Glu627Gln)
c.1711G>C (p.Glu571Gln)
 COSMIC
21g.25897647C>TCA409806540APPn.1957G>A
n.387G>A
n.656G>A
c.1990G>A (p.Glu664Lys)
c.1765G>A (p.Glu589Lys)
c.1597G>A (p.Glu533Lys)
c.1933G>A (p.Glu645Lys)
c.1936G>A (p.Glu646Lys)
c.1660G>A (p.Glu554Lys)
c.1822G>A (p.Glu608Lys)
c.1918G>A (p.Glu640Lys)
n.337G>A
c.1879G>A (p.Glu627Lys)
c.1711G>A (p.Glu571Lys)
21g.25897648C>ACA511686315APPn.1956G>T
n.386G>T
n.655G>T
c.1989G>T (p.Thr663=)
c.1764G>T (p.Thr588=)
c.1596G>T (p.Thr532=)
c.1932G>T (p.Thr644=)
c.1935G>T (p.Thr645=)
c.1659G>T (p.Thr553=)
c.1821G>T (p.Thr607=)
c.1917G>T (p.Thr639=)
n.336G>T
c.1878G>T (p.Thr626=)
c.1710G>T (p.Thr570=)
21g.25897648C=CA2383554943APPn.1956G=
n.386G=
n.655G=
c.1989G= (p.Thr663=)
c.1764G= (p.Thr588=)
c.1596G= (p.Thr532=)
c.1932G= (p.Thr644=)
c.1935G= (p.Thr645=)
c.1659G= (p.Thr553=)
c.1821G= (p.Thr607=)
c.1917G= (p.Thr639=)
n.336G=
c.1878G= (p.Thr626=)
c.1710G= (p.Thr570=)
21g.25897648C>GCA9987103APPn.1956G>C
n.386G>C
n.655G>C
c.1989G>C (p.Thr663=)
c.1764G>C (p.Thr588=)
c.1596G>C (p.Thr532=)
c.1932G>C (p.Thr644=)
c.1935G>C (p.Thr645=)
c.1659G>C (p.Thr553=)
c.1821G>C (p.Thr607=)
c.1917G>C (p.Thr639=)
n.336G>C
c.1878G>C (p.Thr626=)
c.1710G>C (p.Thr570=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897648C>TCA319103543APPn.1956G>A
n.386G>A
n.655G>A
c.1989G>A (p.Thr663=)
c.1764G>A (p.Thr588=)
c.1596G>A (p.Thr532=)
c.1932G>A (p.Thr644=)
c.1935G>A (p.Thr645=)
c.1659G>A (p.Thr553=)
c.1821G>A (p.Thr607=)
c.1917G>A (p.Thr639=)
n.336G>A
c.1878G>A (p.Thr626=)
c.1710G>A (p.Thr570=)
 dbSNP gnomAD v4
21g.25897649G>ACA9987104APPn.1955C>T
n.385C>T
n.654C>T
c.1988C>T (p.Thr663Met)
c.1763C>T (p.Thr588Met)
c.1595C>T (p.Thr532Met)
c.1931C>T (p.Thr644Met)
c.1934C>T (p.Thr645Met)
c.1658C>T (p.Thr553Met)
c.1820C>T (p.Thr607Met)
c.1916C>T (p.Thr639Met)
n.335C>T
c.1877C>T (p.Thr626Met)
c.1709C>T (p.Thr570Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897649G>CCA409806542APPn.1955C>G
n.385C>G
n.654C>G
c.1988C>G (p.Thr663Arg)
c.1763C>G (p.Thr588Arg)
c.1595C>G (p.Thr532Arg)
c.1931C>G (p.Thr644Arg)
c.1934C>G (p.Thr645Arg)
c.1658C>G (p.Thr553Arg)
c.1820C>G (p.Thr607Arg)
c.1916C>G (p.Thr639Arg)
n.335C>G
c.1877C>G (p.Thr626Arg)
c.1709C>G (p.Thr570Arg)
21g.25897649G=CA2383554944APPn.1955C=
n.385C=
n.654C=
c.1988C= (p.Thr663=)
c.1763C= (p.Thr588=)
c.1595C= (p.Thr532=)
c.1931C= (p.Thr644=)
c.1934C= (p.Thr645=)
c.1658C= (p.Thr553=)
c.1820C= (p.Thr607=)
c.1916C= (p.Thr639=)
n.335C=
c.1877C= (p.Thr626=)
c.1709C= (p.Thr570=)
21g.25897649G>TCA409806544APPn.1955C>A
n.385C>A
n.654C>A
c.1988C>A (p.Thr663Lys)
c.1763C>A (p.Thr588Lys)
c.1595C>A (p.Thr532Lys)
c.1931C>A (p.Thr644Lys)
c.1934C>A (p.Thr645Lys)
c.1658C>A (p.Thr553Lys)
c.1820C>A (p.Thr607Lys)
c.1916C>A (p.Thr639Lys)
n.335C>A
c.1877C>A (p.Thr626Lys)
c.1709C>A (p.Thr570Lys)
21g.25897649_25897655delinsGTCTTGACA2383554945APPn.1949_1955delinsTCAAGAC
n.379_385delinsTCAAGAC
n.648_654delinsTCAAGAC
c.1982_1988delinsTCAAGAC (p.Ile661=)
c.1757_1763delinsTCAAGAC (p.Ile586=)
c.1589_1595delinsTCAAGAC (p.Ile530=)
c.1925_1931delinsTCAAGAC (p.Ile642=)
c.1928_1934delinsTCAAGAC (p.Ile643=)
c.1652_1658delinsTCAAGAC (p.Ile551=)
c.1814_1820delinsTCAAGAC (p.Ile605=)
c.1910_1916delinsTCAAGAC (p.Ile637=)
n.329_335delinsTCAAGAC
c.1871_1877delinsTCAAGAC (p.Ile624=)
c.1703_1709delinsTCAAGAC (p.Ile568=)
21g.25897650T>ACA409806545APPn.1954A>T
n.384A>T
n.653A>T
c.1987A>T (p.Thr663Ser)
c.1762A>T (p.Thr588Ser)
c.1594A>T (p.Thr532Ser)
c.1930A>T (p.Thr644Ser)
c.1933A>T (p.Thr645Ser)
c.1657A>T (p.Thr553Ser)
c.1819A>T (p.Thr607Ser)
c.1915A>T (p.Thr639Ser)
n.334A>T
c.1876A>T (p.Thr626Ser)
c.1708A>T (p.Thr570Ser)
21g.25897650T>CCA409806546APPn.1954A>G
n.384A>G
n.653A>G
c.1987A>G (p.Thr663Ala)
c.1762A>G (p.Thr588Ala)
c.1594A>G (p.Thr532Ala)
c.1930A>G (p.Thr644Ala)
c.1933A>G (p.Thr645Ala)
c.1657A>G (p.Thr553Ala)
c.1819A>G (p.Thr607Ala)
c.1915A>G (p.Thr639Ala)
n.334A>G
c.1876A>G (p.Thr626Ala)
c.1708A>G (p.Thr570Ala)
 gnomAD v4
21g.25897650T>GCA409806547APPn.1954A>C
n.384A>C
n.653A>C
c.1987A>C (p.Thr663Pro)
c.1762A>C (p.Thr588Pro)
c.1594A>C (p.Thr532Pro)
c.1930A>C (p.Thr644Pro)
c.1933A>C (p.Thr645Pro)
c.1657A>C (p.Thr553Pro)
c.1819A>C (p.Thr607Pro)
c.1915A>C (p.Thr639Pro)
n.334A>C
c.1876A>C (p.Thr626Pro)
c.1708A>C (p.Thr570Pro)
21g.25897651_25897656delCA2383554946APPn.1949_1954del
n.379_384del
n.648_653del
c.1982_1987del (p.Ile661_Lys662del)
c.1757_1762del (p.Ile586_Lys587del)
c.1589_1594del (p.Ile530_Lys531del)
c.1925_1930del (p.Ile642_Lys643del)
c.1928_1933del (p.Ile643_Lys644del)
c.1652_1657del (p.Ile551_Lys552del)
c.1814_1819del (p.Ile605_Lys606del)
c.1910_1915del (p.Ile637_Lys638del)
n.329_334del
c.1871_1876del (p.Ile624_Lys625del)
c.1703_1708del (p.Ile568_Lys569del)
 dbSNP
21g.25897651C>ACA409806548APPn.1953G>T
n.383G>T
n.652G>T
c.1986G>T (p.Lys662Asn)
c.1761G>T (p.Lys587Asn)
c.1593G>T (p.Lys531Asn)
c.1929G>T (p.Lys643Asn)
c.1932G>T (p.Lys644Asn)
c.1656G>T (p.Lys552Asn)
c.1818G>T (p.Lys606Asn)
c.1914G>T (p.Lys638Asn)
n.333G>T
c.1875G>T (p.Lys625Asn)
c.1707G>T (p.Lys569Asn)
21g.25897651C>GCA409806549APPn.1953G>C
n.383G>C
n.652G>C
c.1986G>C (p.Lys662Asn)
c.1761G>C (p.Lys587Asn)
c.1593G>C (p.Lys531Asn)
c.1929G>C (p.Lys643Asn)
c.1932G>C (p.Lys644Asn)
c.1656G>C (p.Lys552Asn)
c.1818G>C (p.Lys606Asn)
c.1914G>C (p.Lys638Asn)
n.333G>C
c.1875G>C (p.Lys625Asn)
c.1707G>C (p.Lys569Asn)
21g.25897651C>TCA511686327APPn.1953G>A
n.383G>A
n.652G>A
c.1986G>A (p.Lys662=)
c.1761G>A (p.Lys587=)
c.1593G>A (p.Lys531=)
c.1929G>A (p.Lys643=)
c.1932G>A (p.Lys644=)
c.1656G>A (p.Lys552=)
c.1818G>A (p.Lys606=)
c.1914G>A (p.Lys638=)
n.333G>A
c.1875G>A (p.Lys625=)
c.1707G>A (p.Lys569=)
21g.25897652T>ACA409806550APPn.1952A>T
n.382A>T
n.651A>T
c.1985A>T (p.Lys662Met)
c.1760A>T (p.Lys587Met)
c.1592A>T (p.Lys531Met)
c.1928A>T (p.Lys643Met)
c.1931A>T (p.Lys644Met)
c.1655A>T (p.Lys552Met)
c.1817A>T (p.Lys606Met)
c.1913A>T (p.Lys638Met)
n.332A>T
c.1874A>T (p.Lys625Met)
c.1706A>T (p.Lys569Met)
21g.25897652T>CCA409806551APPn.1952A>G
n.382A>G
n.651A>G
c.1985A>G (p.Lys662Arg)
c.1760A>G (p.Lys587Arg)
c.1592A>G (p.Lys531Arg)
c.1928A>G (p.Lys643Arg)
c.1931A>G (p.Lys644Arg)
c.1655A>G (p.Lys552Arg)
c.1817A>G (p.Lys606Arg)
c.1913A>G (p.Lys638Arg)
n.332A>G
c.1874A>G (p.Lys625Arg)
c.1706A>G (p.Lys569Arg)
21g.25897652T>GCA409806552APPn.1952A>C
n.382A>C
n.651A>C
c.1985A>C (p.Lys662Thr)
c.1760A>C (p.Lys587Thr)
c.1592A>C (p.Lys531Thr)
c.1928A>C (p.Lys643Thr)
c.1931A>C (p.Lys644Thr)
c.1655A>C (p.Lys552Thr)
c.1817A>C (p.Lys606Thr)
c.1913A>C (p.Lys638Thr)
n.332A>C
c.1874A>C (p.Lys625Thr)
c.1706A>C (p.Lys569Thr)
21g.25897653T>ACA409806553APPn.1951A>T
n.381A>T
n.650A>T
c.1984A>T (p.Lys662Ter)
c.1759A>T (p.Lys587Ter)
c.1591A>T (p.Lys531Ter)
c.1927A>T (p.Lys643Ter)
c.1930A>T (p.Lys644Ter)
c.1654A>T (p.Lys552Ter)
c.1816A>T (p.Lys606Ter)
c.1912A>T (p.Lys638Ter)
n.331A>T
c.1873A>T (p.Lys625Ter)
c.1705A>T (p.Lys569Ter)
21g.25897653T>CCA409806555APPn.1951A>G
n.381A>G
n.650A>G
c.1984A>G (p.Lys662Glu)
c.1759A>G (p.Lys587Glu)
c.1591A>G (p.Lys531Glu)
c.1927A>G (p.Lys643Glu)
c.1930A>G (p.Lys644Glu)
c.1654A>G (p.Lys552Glu)
c.1816A>G (p.Lys606Glu)
c.1912A>G (p.Lys638Glu)
n.331A>G
c.1873A>G (p.Lys625Glu)
c.1705A>G (p.Lys569Glu)
21g.25897653T>GCA409806554APPn.1951A>C
n.381A>C
n.650A>C
c.1984A>C (p.Lys662Gln)
c.1759A>C (p.Lys587Gln)
c.1591A>C (p.Lys531Gln)
c.1927A>C (p.Lys643Gln)
c.1930A>C (p.Lys644Gln)
c.1654A>C (p.Lys552Gln)
c.1816A>C (p.Lys606Gln)
c.1912A>C (p.Lys638Gln)
n.331A>C
c.1873A>C (p.Lys625Gln)
c.1705A>C (p.Lys569Gln)
21g.25897654G>ACA511686342APPn.1950C>T
n.380C>T
n.649C>T
c.1983C>T (p.Ile661=)
c.1758C>T (p.Ile586=)
c.1590C>T (p.Ile530=)
c.1926C>T (p.Ile642=)
c.1929C>T (p.Ile643=)
c.1653C>T (p.Ile551=)
c.1815C>T (p.Ile605=)
c.1911C>T (p.Ile637=)
n.330C>T
c.1872C>T (p.Ile624=)
c.1704C>T (p.Ile568=)
 dbSNP
21g.25897654G>CCA409806556APPn.1950C>G
n.380C>G
n.649C>G
c.1983C>G (p.Ile661Met)
c.1758C>G (p.Ile586Met)
c.1590C>G (p.Ile530Met)
c.1926C>G (p.Ile642Met)
c.1929C>G (p.Ile643Met)
c.1653C>G (p.Ile551Met)
c.1815C>G (p.Ile605Met)
c.1911C>G (p.Ile637Met)
n.330C>G
c.1872C>G (p.Ile624Met)
c.1704C>G (p.Ile568Met)
21g.25897654G=CA2383554947APPn.1950C=
n.380C=
n.649C=
c.1983C= (p.Ile661=)
c.1758C= (p.Ile586=)
c.1590C= (p.Ile530=)
c.1926C= (p.Ile642=)
c.1929C= (p.Ile643=)
c.1653C= (p.Ile551=)
c.1815C= (p.Ile605=)
c.1911C= (p.Ile637=)
n.330C=
c.1872C= (p.Ile624=)
c.1704C= (p.Ile568=)
21g.25897654G>TCA511686341APPn.1950C>A
n.380C>A
n.649C>A
c.1983C>A (p.Ile661=)
c.1758C>A (p.Ile586=)
c.1590C>A (p.Ile530=)
c.1926C>A (p.Ile642=)
c.1929C>A (p.Ile643=)
c.1653C>A (p.Ile551=)
c.1815C>A (p.Ile605=)
c.1911C>A (p.Ile637=)
n.330C>A
c.1872C>A (p.Ile624=)
c.1704C>A (p.Ile568=)
21g.25897655A=CA2383554948APPn.1949T=
n.379T=
n.648T=
c.1982T= (p.Ile661=)
c.1757T= (p.Ile586=)
c.1589T= (p.Ile530=)
c.1925T= (p.Ile642=)
c.1928T= (p.Ile643=)
c.1652T= (p.Ile551=)
c.1814T= (p.Ile605=)
c.1910T= (p.Ile637=)
n.329T=
c.1871T= (p.Ile624=)
c.1703T= (p.Ile568=)
21g.25897655A>CCA409806557APPn.1949T>G
n.379T>G
n.648T>G
c.1982T>G (p.Ile661Ser)
c.1757T>G (p.Ile586Ser)
c.1589T>G (p.Ile530Ser)
c.1925T>G (p.Ile642Ser)
c.1928T>G (p.Ile643Ser)
c.1652T>G (p.Ile551Ser)
c.1814T>G (p.Ile605Ser)
c.1910T>G (p.Ile637Ser)
n.329T>G
c.1871T>G (p.Ile624Ser)
c.1703T>G (p.Ile568Ser)
 gnomAD v4
21g.25897655A>GCA9987105APPn.1949T>C
n.379T>C
n.648T>C
c.1982T>C (p.Ile661Thr)
c.1757T>C (p.Ile586Thr)
c.1589T>C (p.Ile530Thr)
c.1925T>C (p.Ile642Thr)
c.1928T>C (p.Ile643Thr)
c.1652T>C (p.Ile551Thr)
c.1814T>C (p.Ile605Thr)
c.1910T>C (p.Ile637Thr)
n.329T>C
c.1871T>C (p.Ile624Thr)
c.1703T>C (p.Ile568Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897655A>TCA409806558APPn.1949T>A
n.379T>A
n.648T>A
c.1982T>A (p.Ile661Asn)
c.1757T>A (p.Ile586Asn)
c.1589T>A (p.Ile530Asn)
c.1925T>A (p.Ile642Asn)
c.1928T>A (p.Ile643Asn)
c.1652T>A (p.Ile551Asn)
c.1814T>A (p.Ile605Asn)
c.1910T>A (p.Ile637Asn)
n.329T>A
c.1871T>A (p.Ile624Asn)
c.1703T>A (p.Ile568Asn)
21g.25897656T>ACA409806559APPn.1948A>T
n.378A>T
n.647A>T
c.1981A>T (p.Ile661Phe)
c.1756A>T (p.Ile586Phe)
c.1588A>T (p.Ile530Phe)
c.1924A>T (p.Ile642Phe)
c.1927A>T (p.Ile643Phe)
c.1651A>T (p.Ile551Phe)
c.1813A>T (p.Ile605Phe)
c.1909A>T (p.Ile637Phe)
n.328A>T
c.1870A>T (p.Ile624Phe)
c.1702A>T (p.Ile568Phe)
21g.25897656T>CCA319103568APPn.1948A>G
n.378A>G
n.647A>G
c.1981A>G (p.Ile661Val)
c.1756A>G (p.Ile586Val)
c.1588A>G (p.Ile530Val)
c.1924A>G (p.Ile642Val)
c.1927A>G (p.Ile643Val)
c.1651A>G (p.Ile551Val)
c.1813A>G (p.Ile605Val)
c.1909A>G (p.Ile637Val)
n.328A>G
c.1870A>G (p.Ile624Val)
c.1702A>G (p.Ile568Val)
 dbSNP gnomAD v2 gnomAD v4
21g.25897656T>GCA409806560APPn.1948A>C
n.378A>C
n.647A>C
c.1981A>C (p.Ile661Leu)
c.1756A>C (p.Ile586Leu)
c.1588A>C (p.Ile530Leu)
c.1924A>C (p.Ile642Leu)
c.1927A>C (p.Ile643Leu)
c.1651A>C (p.Ile551Leu)
c.1813A>C (p.Ile605Leu)
c.1909A>C (p.Ile637Leu)
n.328A>C
c.1870A>C (p.Ile624Leu)
c.1702A>C (p.Ile568Leu)
21g.25897656T=CA2383554949APPn.1948A=
n.378A=
n.647A=
c.1981A= (p.Ile661=)
c.1756A= (p.Ile586=)
c.1588A= (p.Ile530=)
c.1924A= (p.Ile642=)
c.1927A= (p.Ile643=)
c.1651A= (p.Ile551=)
c.1813A= (p.Ile605=)
c.1909A= (p.Ile637=)
n.328A=
c.1870A= (p.Ile624=)
c.1702A= (p.Ile568=)
21g.25897657A=CA2383554950APPn.1947T=
n.377T=
n.646T=
c.1980T= (p.Asn660=)
c.1755T= (p.Asn585=)
c.1587T= (p.Asn529=)
c.1923T= (p.Asn641=)
c.1926T= (p.Asn642=)
c.1650T= (p.Asn550=)
c.1812T= (p.Asn604=)
c.1908T= (p.Asn636=)
n.327T=
c.1869T= (p.Asn623=)
c.1701T= (p.Asn567=)
21g.25897657A>CCA409806561APPn.1947T>G
n.377T>G
n.646T>G
c.1980T>G (p.Asn660Lys)
c.1755T>G (p.Asn585Lys)
c.1587T>G (p.Asn529Lys)
c.1923T>G (p.Asn641Lys)
c.1926T>G (p.Asn642Lys)
c.1650T>G (p.Asn550Lys)
c.1812T>G (p.Asn604Lys)
c.1908T>G (p.Asn636Lys)
n.327T>G
c.1869T>G (p.Asn623Lys)
c.1701T>G (p.Asn567Lys)
21g.25897657A>GCA9987106APPn.1947T>C
n.377T>C
n.646T>C
c.1980T>C (p.Asn660=)
c.1755T>C (p.Asn585=)
c.1587T>C (p.Asn529=)
c.1923T>C (p.Asn641=)
c.1926T>C (p.Asn642=)
c.1650T>C (p.Asn550=)
c.1812T>C (p.Asn604=)
c.1908T>C (p.Asn636=)
n.327T>C
c.1869T>C (p.Asn623=)
c.1701T>C (p.Asn567=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.25897657A>TCA409806562APPn.1947T>A
n.377T>A
n.646T>A
c.1980T>A (p.Asn660Lys)
c.1755T>A (p.Asn585Lys)
c.1587T>A (p.Asn529Lys)
c.1923T>A (p.Asn641Lys)
c.1926T>A (p.Asn642Lys)
c.1650T>A (p.Asn550Lys)
c.1812T>A (p.Asn604Lys)
c.1908T>A (p.Asn636Lys)
n.327T>A
c.1869T>A (p.Asn623Lys)
c.1701T>A (p.Asn567Lys)
21g.25897658T>ACA409806563APPn.1946A>T
n.376A>T
n.645A>T
c.1979A>T (p.Asn660Ile)
c.1754A>T (p.Asn585Ile)
c.1586A>T (p.Asn529Ile)
c.1922A>T (p.Asn641Ile)
c.1925A>T (p.Asn642Ile)
c.1649A>T (p.Asn550Ile)
c.1811A>T (p.Asn604Ile)
c.1907A>T (p.Asn636Ile)
n.326A>T
c.1868A>T (p.Asn623Ile)
c.1700A>T (p.Asn567Ile)
21g.25897658T>CCA409806564APPn.1946A>G
n.376A>G
n.645A>G
c.1979A>G (p.Asn660Ser)
c.1754A>G (p.Asn585Ser)
c.1586A>G (p.Asn529Ser)
c.1922A>G (p.Asn641Ser)
c.1925A>G (p.Asn642Ser)
c.1649A>G (p.Asn550Ser)
c.1811A>G (p.Asn604Ser)
c.1907A>G (p.Asn636Ser)
n.326A>G
c.1868A>G (p.Asn623Ser)
c.1700A>G (p.Asn567Ser)
 ClinVar dbSNP
21g.25897658T>GCA409806565APPn.1946A>C
n.376A>C
n.645A>C
c.1979A>C (p.Asn660Thr)
c.1754A>C (p.Asn585Thr)
c.1586A>C (p.Asn529Thr)
c.1922A>C (p.Asn641Thr)
c.1925A>C (p.Asn642Thr)
c.1649A>C (p.Asn550Thr)
c.1811A>C (p.Asn604Thr)
c.1907A>C (p.Asn636Thr)
n.326A>C
c.1868A>C (p.Asn623Thr)
c.1700A>C (p.Asn567Thr)
 dbSNP
21g.25897658T=CA2383554951APPn.1946A=
n.376A=
n.645A=
c.1979A= (p.Asn660=)
c.1754A= (p.Asn585=)
c.1586A= (p.Asn529=)
c.1922A= (p.Asn641=)
c.1925A= (p.Asn642=)
c.1649A= (p.Asn550=)
c.1811A= (p.Asn604=)
c.1907A= (p.Asn636=)
n.326A=
c.1868A= (p.Asn623=)
c.1700A= (p.Asn567=)
21g.25897659T>ACA409806566APPn.1945A>T
n.375A>T
n.644A>T
c.1978A>T (p.Asn660Tyr)
c.1753A>T (p.Asn585Tyr)
c.1585A>T (p.Asn529Tyr)
c.1921A>T (p.Asn641Tyr)
c.1924A>T (p.Asn642Tyr)
c.1648A>T (p.Asn550Tyr)
c.1810A>T (p.Asn604Tyr)
c.1906A>T (p.Asn636Tyr)
n.325A>T
c.1867A>T (p.Asn623Tyr)
c.1699A>T (p.Asn567Tyr)
 ClinVar dbSNP
21g.25897659T>CCA409806567APPn.1945A>G
n.375A>G
n.644A>G
c.1978A>G (p.Asn660Asp)
c.1753A>G (p.Asn585Asp)
c.1585A>G (p.Asn529Asp)
c.1921A>G (p.Asn641Asp)
c.1924A>G (p.Asn642Asp)
c.1648A>G (p.Asn550Asp)
c.1810A>G (p.Asn604Asp)
c.1906A>G (p.Asn636Asp)
n.325A>G
c.1867A>G (p.Asn623Asp)
c.1699A>G (p.Asn567Asp)
 dbSNP gnomAD v3 gnomAD v4
21g.25897659T>GCA9987107APPn.1945A>C
n.375A>C
n.644A>C
c.1978A>C (p.Asn660His)
c.1753A>C (p.Asn585His)
c.1585A>C (p.Asn529His)
c.1921A>C (p.Asn641His)
c.1924A>C (p.Asn642His)
c.1648A>C (p.Asn550His)
c.1810A>C (p.Asn604His)
c.1906A>C (p.Asn636His)
n.325A>C
c.1867A>C (p.Asn623His)
c.1699A>C (p.Asn567His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.25897659T=CA2383554952APPn.1945A=
n.375A=
n.644A=
c.1978A= (p.Asn660=)
c.1753A= (p.Asn585=)
c.1585A= (p.Asn529=)
c.1921A= (p.Asn641=)
c.1924A= (p.Asn642=)
c.1648A= (p.Asn550=)
c.1810A= (p.Asn604=)
c.1906A= (p.Asn636=)
n.325A=
c.1867A= (p.Asn623=)
c.1699A= (p.Asn567=)
21g.25897660T>ACA511686361APPn.1944A>T
n.374A>T
n.643A>T
c.1977A>T (p.Thr659=)
c.1752A>T (p.Thr584=)
c.1584A>T (p.Thr528=)
c.1920A>T (p.Thr640=)
c.1923A>T (p.Thr641=)
c.1647A>T (p.Thr549=)
c.1809A>T (p.Thr603=)
c.1905A>T (p.Thr635=)
n.324A>T
c.1866A>T (p.Thr622=)
c.1698A>T (p.Thr566=)
21g.25897660T>CCA511686368APPn.1944A>G
n.374A>G
n.643A>G
c.1977A>G (p.Thr659=)
c.1752A>G (p.Thr584=)
c.1584A>G (p.Thr528=)
c.1920A>G (p.Thr640=)
c.1923A>G (p.Thr641=)
c.1647A>G (p.Thr549=)
c.1809A>G (p.Thr603=)
c.1905A>G (p.Thr635=)
n.324A>G
c.1866A>G (p.Thr622=)
c.1698A>G (p.Thr566=)
21g.25897660T>GCA511686359APPn.1944A>C
n.374A>C
n.643A>C
c.1977A>C (p.Thr659=)
c.1752A>C (p.Thr584=)
c.1584A>C (p.Thr528=)
c.1920A>C (p.Thr640=)
c.1923A>C (p.Thr641=)
c.1647A>C (p.Thr549=)
c.1809A>C (p.Thr603=)
c.1905A>C (p.Thr635=)
n.324A>C
c.1866A>C (p.Thr622=)
c.1698A>C (p.Thr566=)
21g.25897661G>ACA409806568APPn.1943C>T
n.373C>T
n.642C>T
c.1976C>T (p.Thr659Ile)
c.1751C>T (p.Thr584Ile)
c.1583C>T (p.Thr528Ile)
c.1919C>T (p.Thr640Ile)
c.1922C>T (p.Thr641Ile)
c.1646C>T (p.Thr549Ile)
c.1808C>T (p.Thr603Ile)
c.1904C>T (p.Thr635Ile)
n.323C>T
c.1865C>T (p.Thr622Ile)
c.1697C>T (p.Thr566Ile)
21g.25897661G>CCA409806569APPn.1943C>G
n.373C>G
n.642C>G
c.1976C>G (p.Thr659Arg)
c.1751C>G (p.Thr584Arg)
c.1583C>G (p.Thr528Arg)
c.1919C>G (p.Thr640Arg)
c.1922C>G (p.Thr641Arg)
c.1646C>G (p.Thr549Arg)
c.1808C>G (p.Thr603Arg)
c.1904C>G (p.Thr635Arg)
n.323C>G
c.1865C>G (p.Thr622Arg)
c.1697C>G (p.Thr566Arg)
21g.25897661G=CA2383554953APPn.1943C=
n.373C=
n.642C=
c.1976C= (p.Thr659=)
c.1751C= (p.Thr584=)
c.1583C= (p.Thr528=)
c.1919C= (p.Thr640=)
c.1922C= (p.Thr641=)
c.1646C= (p.Thr549=)
c.1808C= (p.Thr603=)
c.1904C= (p.Thr635=)
n.323C=
c.1865C= (p.Thr622=)
c.1697C= (p.Thr566=)
21g.25897661G>TCA409806570APPn.1943C>A
n.373C>A
n.642C>A
c.1976C>A (p.Thr659Lys)
c.1751C>A (p.Thr584Lys)
c.1583C>A (p.Thr528Lys)
c.1919C>A (p.Thr640Lys)
c.1922C>A (p.Thr641Lys)
c.1646C>A (p.Thr549Lys)
c.1808C>A (p.Thr603Lys)
c.1904C>A (p.Thr635Lys)
n.323C>A
c.1865C>A (p.Thr622Lys)
c.1697C>A (p.Thr566Lys)
 dbSNP gnomAD v4
21g.25897662T>ACA409806571APPn.1942A>T
n.372A>T
n.641A>T
c.1975A>T (p.Thr659Ser)
c.1750A>T (p.Thr584Ser)
c.1582A>T (p.Thr528Ser)
c.1918A>T (p.Thr640Ser)
c.1921A>T (p.Thr641Ser)
c.1645A>T (p.Thr549Ser)
c.1807A>T (p.Thr603Ser)
c.1903A>T (p.Thr635Ser)
n.322A>T
c.1864A>T (p.Thr622Ser)
c.1696A>T (p.Thr566Ser)
21g.25897662T>CCA409806572APPn.1942A>G
n.372A>G
n.641A>G
c.1975A>G (p.Thr659Ala)
c.1750A>G (p.Thr584Ala)
c.1582A>G (p.Thr528Ala)
c.1918A>G (p.Thr640Ala)
c.1921A>G (p.Thr641Ala)
c.1645A>G (p.Thr549Ala)
c.1807A>G (p.Thr603Ala)
c.1903A>G (p.Thr635Ala)
n.322A>G
c.1864A>G (p.Thr622Ala)
c.1696A>G (p.Thr566Ala)
21g.25897662T>GCA409806573APPn.1942A>C
n.372A>C
n.641A>C
c.1975A>C (p.Thr659Pro)
c.1750A>C (p.Thr584Pro)
c.1582A>C (p.Thr528Pro)
c.1918A>C (p.Thr640Pro)
c.1921A>C (p.Thr641Pro)
c.1645A>C (p.Thr549Pro)
c.1807A>C (p.Thr603Pro)
c.1903A>C (p.Thr635Pro)
n.322A>C
c.1864A>C (p.Thr622Pro)
c.1696A>C (p.Thr566Pro)

Number of alleles fetched