Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125434334T>ACA358135240FAT4c.7108T>A (p.Phe2370Ile)
c.1879T>A (p.Phe627Ile)
c.2002T>A (p.Phe668Ile)
4g.125434334T>CCA358135241FAT4c.7108T>C (p.Phe2370Leu)
c.1879T>C (p.Phe627Leu)
c.2002T>C (p.Phe668Leu)
4g.125434334T>GCA358135243FAT4c.7108T>G (p.Phe2370Val)
c.1879T>G (p.Phe627Val)
c.2002T>G (p.Phe668Val)
4g.125434335T>ACA358135245FAT4c.7109T>A (p.Phe2370Tyr)
c.1880T>A (p.Phe627Tyr)
c.2003T>A (p.Phe668Tyr)
4g.125434335T>CCA358135246FAT4c.7109T>C (p.Phe2370Ser)
c.1880T>C (p.Phe627Ser)
c.2003T>C (p.Phe668Ser)
4g.125434335T>GCA358135247FAT4c.7109T>G (p.Phe2370Cys)
c.1880T>G (p.Phe627Cys)
c.2003T>G (p.Phe668Cys)
dbSNP gnomAD v2 gnomAD v4
4g.125434335T=CA1491646825FAT4c.7109T= (p.Phe2370=)
c.1880T= (p.Phe627=)
c.2003T= (p.Phe668=)
4g.125434336C>ACA358135251FAT4c.7110C>A (p.Phe2370Leu)
c.1881C>A (p.Phe627Leu)
c.2004C>A (p.Phe668Leu)
4g.125434336C=CA1491646826FAT4c.7110C= (p.Phe2370=)
c.1881C= (p.Phe627=)
c.2004C= (p.Phe668=)
4g.125434336C>GCA358135250FAT4c.7110C>G (p.Phe2370Leu)
c.1881C>G (p.Phe627Leu)
c.2004C>G (p.Phe668Leu)
4g.125434336C>TCA104869333FAT4c.7110C>T (p.Phe2370=)
c.1881C>T (p.Phe627=)
c.2004C>T (p.Phe668=)
dbSNP COSMIC COSMIC
4g.125434337A>CCA358135252FAT4c.7111A>C (p.Thr2371Pro)
c.1882A>C (p.Thr628Pro)
c.2005A>C (p.Thr669Pro)
4g.125434337A>GCA358135253FAT4c.7111A>G (p.Thr2371Ala)
c.1882A>G (p.Thr628Ala)
c.2005A>G (p.Thr669Ala)
4g.125434337A>TCA358135255FAT4c.7111A>T (p.Thr2371Ser)
c.1882A>T (p.Thr628Ser)
c.2005A>T (p.Thr669Ser)
4g.125434341_125434343delCA2672009890FAT4c.7115_7117del (p.Thr2372del)
c.1886_1888del (p.Thr629del)
c.2009_2011del (p.Thr670del)
gnomAD v4
4g.125434338C>ACA358135257FAT4c.7112C>A (p.Thr2371Lys)
c.1883C>A (p.Thr628Lys)
c.2006C>A (p.Thr669Lys)
4g.125434338C>GCA358135258FAT4c.7112C>G (p.Thr2371Arg)
c.1883C>G (p.Thr628Arg)
c.2006C>G (p.Thr669Arg)
4g.125434338C>TCA358135260FAT4c.7112C>T (p.Thr2371Ile)
c.1883C>T (p.Thr628Ile)
c.2006C>T (p.Thr669Ile)
4g.125434339A>CCA441205024FAT4c.7113A>C (p.Thr2371=)
c.1884A>C (p.Thr628=)
c.2007A>C (p.Thr669=)
4g.125434339A>GCA441205023FAT4c.7113A>G (p.Thr2371=)
c.1884A>G (p.Thr628=)
c.2007A>G (p.Thr669=)
gnomAD v4
4g.125434339A>TCA441205022FAT4c.7113A>T (p.Thr2371=)
c.1884A>T (p.Thr628=)
c.2007A>T (p.Thr669=)
4g.125434340A=CA1491646827FAT4c.7114A= (p.Thr2372=)
c.1885A= (p.Thr629=)
c.2008A= (p.Thr670=)
4g.125434340A>CCA104869339FAT4c.7114A>C (p.Thr2372Pro)
c.1885A>C (p.Thr629Pro)
c.2008A>C (p.Thr670Pro)
dbSNP gnomAD v3 gnomAD v4
4g.125434340A>GCA358135262FAT4c.7114A>G (p.Thr2372Ala)
c.1885A>G (p.Thr629Ala)
c.2008A>G (p.Thr670Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125434340A>TCA358135264FAT4c.7114A>T (p.Thr2372Ser)
c.1885A>T (p.Thr629Ser)
c.2008A>T (p.Thr670Ser)
4g.125434341C>ACA358135266FAT4c.7115C>A (p.Thr2372Lys)
c.1886C>A (p.Thr629Lys)
c.2009C>A (p.Thr670Lys)
4g.125434341C=CA1491646828FAT4c.7115C= (p.Thr2372=)
c.1886C= (p.Thr629=)
c.2009C= (p.Thr670=)
4g.125434341C>GCA358135267FAT4c.7115C>G (p.Thr2372Arg)
c.1886C>G (p.Thr629Arg)
c.2009C>G (p.Thr670Arg)
4g.125434341C>TCA358135269FAT4c.7115C>T (p.Thr2372Ile)
c.1886C>T (p.Thr629Ile)
c.2009C>T (p.Thr670Ile)
dbSNP gnomAD v3 gnomAD v4
4g.125434342A>CCA441205027FAT4c.7116A>C (p.Thr2372=)
c.1887A>C (p.Thr629=)
c.2010A>C (p.Thr670=)
4g.125434342A>GCA441205026FAT4c.7116A>G (p.Thr2372=)
c.1887A>G (p.Thr629=)
c.2010A>G (p.Thr670=)
4g.125434342A>TCA441205025FAT4c.7116A>T (p.Thr2372=)
c.1887A>T (p.Thr629=)
c.2010A>T (p.Thr670=)
4g.125434343A>CCA358135270FAT4c.7117A>C (p.Ile2373Leu)
c.1888A>C (p.Ile630Leu)
c.2011A>C (p.Ile671Leu)
4g.125434343A>GCA358135272FAT4c.7117A>G (p.Ile2373Val)
c.1888A>G (p.Ile630Val)
c.2011A>G (p.Ile671Val)
gnomAD v4
4g.125434343A>TCA358135274FAT4c.7117A>T (p.Ile2373Phe)
c.1888A>T (p.Ile630Phe)
c.2011A>T (p.Ile671Phe)
4g.125434344T>ACA358135275FAT4c.7118T>A (p.Ile2373Asn)
c.1889T>A (p.Ile630Asn)
c.2012T>A (p.Ile671Asn)
4g.125434344T>CCA358135276FAT4c.7118T>C (p.Ile2373Thr)
c.1889T>C (p.Ile630Thr)
c.2012T>C (p.Ile671Thr)
4g.125434344T>GCA358135278FAT4c.7118T>G (p.Ile2373Ser)
c.1889T>G (p.Ile630Ser)
c.2012T>G (p.Ile671Ser)
4g.125434345T>ACA441205028FAT4c.7119T>A (p.Ile2373=)
c.1890T>A (p.Ile630=)
c.2013T>A (p.Ile671=)
4g.125434345T>CCA441205029FAT4c.7119T>C (p.Ile2373=)
c.1890T>C (p.Ile630=)
c.2013T>C (p.Ile671=)
dbSNP
4g.125434345T>GCA358135280FAT4c.7119T>G (p.Ile2373Met)
c.1890T>G (p.Ile630Met)
c.2013T>G (p.Ile671Met)
4g.125434345T=CA1491646829FAT4c.7119T= (p.Ile2373=)
c.1890T= (p.Ile630=)
c.2013T= (p.Ile671=)
4g.125434346C>ACA358135282FAT4c.7120C>A (p.Pro2374Thr)
c.1891C>A (p.Pro631Thr)
c.2014C>A (p.Pro672Thr)
4g.125434346C=CA1491646830FAT4c.7120C= (p.Pro2374=)
c.1891C= (p.Pro631=)
c.2014C= (p.Pro672=)
4g.125434346C>GCA358135283FAT4c.7120C>G (p.Pro2374Ala)
c.1891C>G (p.Pro631Ala)
c.2014C>G (p.Pro672Ala)
4g.125434346C>TCA3073097FAT4c.7120C>T (p.Pro2374Ser)
c.1891C>T (p.Pro631Ser)
c.2014C>T (p.Pro672Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434347C>ACA358135286FAT4c.7121C>A (p.Pro2374His)
c.1892C>A (p.Pro631His)
c.2015C>A (p.Pro672His)
4g.125434347C=CA1491646831FAT4c.7121C= (p.Pro2374=)
c.1892C= (p.Pro631=)
c.2015C= (p.Pro672=)
4g.125434347C>GCA358135288FAT4c.7121C>G (p.Pro2374Arg)
c.1892C>G (p.Pro631Arg)
c.2015C>G (p.Pro672Arg)
4g.125434347C>TCA358135287FAT4c.7121C>T (p.Pro2374Leu)
c.1892C>T (p.Pro631Leu)
c.2015C>T (p.Pro672Leu)
dbSNP gnomAD v2 gnomAD v4
4g.125434348T>ACA441205030FAT4c.7122T>A (p.Pro2374=)
c.1893T>A (p.Pro631=)
c.2016T>A (p.Pro672=)
4g.125434348T>CCA441205031FAT4c.7122T>C (p.Pro2374=)
c.1893T>C (p.Pro631=)
c.2016T>C (p.Pro672=)
4g.125434348T>GCA441205032FAT4c.7122T>G (p.Pro2374=)
c.1893T>G (p.Pro631=)
c.2016T>G (p.Pro672=)
4g.125434349G>ACA145423FAT4c.7123G>A (p.Glu2375Lys)
c.1894G>A (p.Glu632Lys)
c.2017G>A (p.Glu673Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.125434349G>CCA358135291FAT4c.7123G>C (p.Glu2375Gln)
c.1894G>C (p.Glu632Gln)
c.2017G>C (p.Glu673Gln)
COSMIC COSMIC
4g.125434349G=CA1491646832FAT4c.7123G= (p.Glu2375=)
c.1894G= (p.Glu632=)
c.2017G= (p.Glu673=)
4g.125434349G>TCA358135289FAT4c.7123G>T (p.Glu2375Ter)
c.1894G>T (p.Glu632Ter)
c.2017G>T (p.Glu673Ter)
4g.125434350A>CCA358135293FAT4c.7124A>C (p.Glu2375Ala)
c.1895A>C (p.Glu632Ala)
c.2018A>C (p.Glu673Ala)
4g.125434350A>GCA358135294FAT4c.7124A>G (p.Glu2375Gly)
c.1895A>G (p.Glu632Gly)
c.2018A>G (p.Glu673Gly)
4g.125434350A>TCA358135296FAT4c.7124A>T (p.Glu2375Val)
c.1895A>T (p.Glu632Val)
c.2018A>T (p.Glu673Val)
4g.125434351G>ACA3073098FAT4c.7125G>A (p.Glu2375=)
c.1896G>A (p.Glu632=)
c.2019G>A (p.Glu673=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434351G>CCA358135298FAT4c.7125G>C (p.Glu2375Asp)
c.1896G>C (p.Glu632Asp)
c.2019G>C (p.Glu673Asp)
4g.125434351G=CA1491646833FAT4c.7125G= (p.Glu2375=)
c.1896G= (p.Glu632=)
c.2019G= (p.Glu673=)
4g.125434351G>TCA358135300FAT4c.7125G>T (p.Glu2375Asp)
c.1896G>T (p.Glu632Asp)
c.2019G>T (p.Glu673Asp)
4g.125434352G>ACA358135301FAT4c.7126G>A (p.Asp2376Asn)
c.1897G>A (p.Asp633Asn)
c.2020G>A (p.Asp674Asn)
4g.125434352G>CCA358135302FAT4c.7126G>C (p.Asp2376His)
c.1897G>C (p.Asp633His)
c.2020G>C (p.Asp674His)
4g.125434352G>TCA358135304FAT4c.7126G>T (p.Asp2376Tyr)
c.1897G>T (p.Asp633Tyr)
c.2020G>T (p.Asp674Tyr)
gnomAD v4
4g.125434353A=CA1491646834FAT4c.7127A= (p.Asp2376=)
c.1898A= (p.Asp633=)
c.2021A= (p.Asp674=)
4g.125434353A>CCA358135305FAT4c.7127A>C (p.Asp2376Ala)
c.1898A>C (p.Asp633Ala)
c.2021A>C (p.Asp674Ala)
4g.125434353A>GCA358135306FAT4c.7127A>G (p.Asp2376Gly)
c.1898A>G (p.Asp633Gly)
c.2021A>G (p.Asp674Gly)
4g.125434353A>TCA358135307FAT4c.7127A>T (p.Asp2376Val)
c.1898A>T (p.Asp633Val)
c.2021A>T (p.Asp674Val)
dbSNP gnomAD v2 gnomAD v4
4g.125434354T>ACA358135308FAT4c.7128T>A (p.Asp2376Glu)
c.1899T>A (p.Asp633Glu)
c.2022T>A (p.Asp674Glu)
4g.125434354T>CCA441205033FAT4c.7128T>C (p.Asp2376=)
c.1899T>C (p.Asp633=)
c.2022T>C (p.Asp674=)
dbSNP
4g.125434354T>GCA358135309FAT4c.7128T>G (p.Asp2376Glu)
c.1899T>G (p.Asp633Glu)
c.2022T>G (p.Asp674Glu)
4g.125434354T=CA1491646835FAT4c.7128T= (p.Asp2376=)
c.1899T= (p.Asp633=)
c.2022T= (p.Asp674=)
4g.125434355G>ACA358135310FAT4c.7129G>A (p.Ala2377Thr)
c.1900G>A (p.Ala634Thr)
c.2023G>A (p.Ala675Thr)
4g.125434355G>CCA358135311FAT4c.7129G>C (p.Ala2377Pro)
c.1900G>C (p.Ala634Pro)
c.2023G>C (p.Ala675Pro)
4g.125434355G>TCA358135313FAT4c.7129G>T (p.Ala2377Ser)
c.1900G>T (p.Ala634Ser)
c.2023G>T (p.Ala675Ser)
4g.125434356C>ACA358135314FAT4c.7130C>A (p.Ala2377Glu)
c.1901C>A (p.Ala634Glu)
c.2024C>A (p.Ala675Glu)
4g.125434356C>GCA358135316FAT4c.7130C>G (p.Ala2377Gly)
c.1901C>G (p.Ala634Gly)
c.2024C>G (p.Ala675Gly)
4g.125434356C>TCA358135317FAT4c.7130C>T (p.Ala2377Val)
c.1901C>T (p.Ala634Val)
c.2024C>T (p.Ala675Val)
4g.125434357A=CA1491646836FAT4c.7131A= (p.Ala2377=)
c.1902A= (p.Ala634=)
c.2025A= (p.Ala675=)
4g.125434357A>CCA441205034FAT4c.7131A>C (p.Ala2377=)
c.1902A>C (p.Ala634=)
c.2025A>C (p.Ala675=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125434357A>GCA3073099FAT4c.7131A>G (p.Ala2377=)
c.1902A>G (p.Ala634=)
c.2025A>G (p.Ala675=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434357A>TCA441205035FAT4c.7131A>T (p.Ala2377=)
c.1902A>T (p.Ala634=)
c.2025A>T (p.Ala675=)
4g.125434358C>ACA358135320FAT4c.7132C>A (p.Pro2378Thr)
c.1903C>A (p.Pro635Thr)
c.2026C>A (p.Pro676Thr)
dbSNP
4g.125434358C=CA1491646837FAT4c.7132C= (p.Pro2378=)
c.1903C= (p.Pro635=)
c.2026C= (p.Pro676=)
4g.125434358C>GCA358135321FAT4c.7132C>G (p.Pro2378Ala)
c.1903C>G (p.Pro635Ala)
c.2026C>G (p.Pro676Ala)
4g.125434358C>TCA358135323FAT4c.7132C>T (p.Pro2378Ser)
c.1903C>T (p.Pro635Ser)
c.2026C>T (p.Pro676Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.125434359C>ACA3073100FAT4c.7133C>A (p.Pro2378Gln)
c.1904C>A (p.Pro635Gln)
c.2027C>A (p.Pro676Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434359C=CA1491646838FAT4c.7133C= (p.Pro2378=)
c.1904C= (p.Pro635=)
c.2027C= (p.Pro676=)
4g.125434359C>GCA358135325FAT4c.7133C>G (p.Pro2378Arg)
c.1904C>G (p.Pro635Arg)
c.2027C>G (p.Pro676Arg)
4g.125434359C>TCA358135327FAT4c.7133C>T (p.Pro2378Leu)
c.1904C>T (p.Pro635Leu)
c.2027C>T (p.Pro676Leu)
4g.125434360A>CCA441205036FAT4c.7134A>C (p.Pro2378=)
c.1905A>C (p.Pro635=)
c.2028A>C (p.Pro676=)
4g.125434360A>GCA441205037FAT4c.7134A>G (p.Pro2378=)
c.1905A>G (p.Pro635=)
c.2028A>G (p.Pro676=)
4g.125434360A>TCA441205038FAT4c.7134A>T (p.Pro2378=)
c.1905A>T (p.Pro635=)
c.2028A>T (p.Pro676=)
4g.125434361A=CA1491646839FAT4c.7135A= (p.Thr2379=)
c.1906A= (p.Thr636=)
c.2029A= (p.Thr677=)
4g.125434361A>CCA358135329FAT4c.7135A>C (p.Thr2379Pro)
c.1906A>C (p.Thr636Pro)
c.2029A>C (p.Thr677Pro)
4g.125434361A>GCA104869378FAT4c.7135A>G (p.Thr2379Ala)
c.1906A>G (p.Thr636Ala)
c.2029A>G (p.Thr677Ala)
dbSNP gnomAD v2 gnomAD v4
4g.125434361A>TCA358135330FAT4c.7135A>T (p.Thr2379Ser)
c.1906A>T (p.Thr636Ser)
c.2029A>T (p.Thr677Ser)
4g.125434362C>ACA358135332FAT4c.7136C>A (p.Thr2379Asn)
c.1907C>A (p.Thr636Asn)
c.2030C>A (p.Thr677Asn)
4g.125434362C=CA1491646840FAT4c.7136C= (p.Thr2379=)
c.1907C= (p.Thr636=)
c.2030C= (p.Thr677=)
4g.125434362C>GCA358135334FAT4c.7136C>G (p.Thr2379Ser)
c.1907C>G (p.Thr636Ser)
c.2030C>G (p.Thr677Ser)
4g.125434362C>TCA104869379FAT4c.7136C>T (p.Thr2379Ile)
c.1907C>T (p.Thr636Ile)
c.2030C>T (p.Thr677Ile)
dbSNP
4g.125434363T>ACA441205039FAT4c.7137T>A (p.Thr2379=)
c.1908T>A (p.Thr636=)
c.2031T>A (p.Thr677=)
4g.125434363T>CCA441205040FAT4c.7137T>C (p.Thr2379=)
c.1908T>C (p.Thr636=)
c.2031T>C (p.Thr677=)
4g.125434363T>GCA441205041FAT4c.7137T>G (p.Thr2379=)
c.1908T>G (p.Thr636=)
c.2031T>G (p.Thr677=)
4g.125434364G>ACA358135337FAT4c.7138G>A (p.Gly2380Arg)
c.1909G>A (p.Gly637Arg)
c.2032G>A (p.Gly678Arg)
4g.125434364G>CCA358135338FAT4c.7138G>C (p.Gly2380Arg)
c.1909G>C (p.Gly637Arg)
c.2032G>C (p.Gly678Arg)
4g.125434364G>TCA358135340FAT4c.7138G>T (p.Gly2380Ter)
c.1909G>T (p.Gly637Ter)
c.2032G>T (p.Gly678Ter)
4g.125434365G>ACA358135342FAT4c.7139G>A (p.Gly2380Glu)
c.1910G>A (p.Gly637Glu)
c.2033G>A (p.Gly678Glu)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
4g.125434365G>CCA358135343FAT4c.7139G>C (p.Gly2380Ala)
c.1910G>C (p.Gly637Ala)
c.2033G>C (p.Gly678Ala)
4g.125434365G>TCA358135344FAT4c.7139G>T (p.Gly2380Val)
c.1910G>T (p.Gly637Val)
c.2033G>T (p.Gly678Val)
4g.125434366A>CCA441205044FAT4c.7140A>C (p.Gly2380=)
c.1911A>C (p.Gly637=)
c.2034A>C (p.Gly678=)
ClinVar gnomAD v4
4g.125434366A>GCA441205043FAT4c.7140A>G (p.Gly2380=)
c.1911A>G (p.Gly637=)
c.2034A>G (p.Gly678=)
4g.125434366A>TCA441205042FAT4c.7140A>T (p.Gly2380=)
c.1911A>T (p.Gly637=)
c.2034A>T (p.Gly678=)
4g.125434367A>CCA358135345FAT4c.7141A>C (p.Thr2381Pro)
c.1912A>C (p.Thr638Pro)
c.2035A>C (p.Thr679Pro)
4g.125434367A>GCA358135346FAT4c.7141A>G (p.Thr2381Ala)
c.1912A>G (p.Thr638Ala)
c.2035A>G (p.Thr679Ala)
4g.125434367A>TCA358135347FAT4c.7141A>T (p.Thr2381Ser)
c.1912A>T (p.Thr638Ser)
c.2035A>T (p.Thr679Ser)
4g.125434368C>ACA358135352FAT4c.7142C>A (p.Thr2381Lys)
c.1913C>A (p.Thr638Lys)
c.2036C>A (p.Thr679Lys)
ClinVar gnomAD v4
4g.125434368C>GCA358135351FAT4c.7142C>G (p.Thr2381Arg)
c.1913C>G (p.Thr638Arg)
c.2036C>G (p.Thr679Arg)
gnomAD v4
4g.125434368C>TCA358135349FAT4c.7142C>T (p.Thr2381Ile)
c.1913C>T (p.Thr638Ile)
c.2036C>T (p.Thr679Ile)
gnomAD v4
4g.125434369A>CCA441205045FAT4c.7143A>C (p.Thr2381=)
c.1914A>C (p.Thr638=)
c.2037A>C (p.Thr679=)
4g.125434369A>GCA441205046FAT4c.7143A>G (p.Thr2381=)
c.1914A>G (p.Thr638=)
c.2037A>G (p.Thr679=)
4g.125434369A>TCA441205047FAT4c.7143A>T (p.Thr2381=)
c.1914A>T (p.Thr638=)
c.2037A>T (p.Thr679=)
4g.125434370G>ACA358135353FAT4c.7144G>A (p.Asp2382Asn)
c.1915G>A (p.Asp639Asn)
c.2038G>A (p.Asp680Asn)
4g.125434370G>CCA358135354FAT4c.7144G>C (p.Asp2382His)
c.1915G>C (p.Asp639His)
c.2038G>C (p.Asp680His)
4g.125434370G>TCA358135355FAT4c.7144G>T (p.Asp2382Tyr)
c.1915G>T (p.Asp639Tyr)
c.2038G>T (p.Asp680Tyr)
4g.125434371A>CCA358135357FAT4c.7145A>C (p.Asp2382Ala)
c.1916A>C (p.Asp639Ala)
c.2039A>C (p.Asp680Ala)
4g.125434371A>GCA358135359FAT4c.7145A>G (p.Asp2382Gly)
c.1916A>G (p.Asp639Gly)
c.2039A>G (p.Asp680Gly)
gnomAD v4
4g.125434371A>TCA358135360FAT4c.7145A>T (p.Asp2382Val)
c.1916A>T (p.Asp639Val)
c.2039A>T (p.Asp680Val)
4g.125434372T>ACA358135361FAT4c.7146T>A (p.Asp2382Glu)
c.1917T>A (p.Asp639Glu)
c.2040T>A (p.Asp680Glu)
4g.125434372T>CCA3073101FAT4c.7146T>C (p.Asp2382=)
c.1917T>C (p.Asp639=)
c.2040T>C (p.Asp680=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125434372T>GCA358135364FAT4c.7146T>G (p.Asp2382Glu)
c.1917T>G (p.Asp639Glu)
c.2040T>G (p.Asp680Glu)
4g.125434372T=CA1491646841FAT4c.7146T= (p.Asp2382=)
c.1917T= (p.Asp639=)
c.2040T= (p.Asp680=)
4g.125434373G>ACA3073102FAT4c.7147G>A (p.Val2383Ile)
c.1918G>A (p.Val640Ile)
c.2041G>A (p.Val681Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434373G>CCA358135366FAT4c.7147G>C (p.Val2383Leu)
c.1918G>C (p.Val640Leu)
c.2041G>C (p.Val681Leu)
4g.125434373G=CA1491646842FAT4c.7147G= (p.Val2383=)
c.1918G= (p.Val640=)
c.2041G= (p.Val681=)
4g.125434373G>TCA358135368FAT4c.7147G>T (p.Val2383Phe)
c.1918G>T (p.Val640Phe)
c.2041G>T (p.Val681Phe)
4g.125434374T>ACA358135370FAT4c.7148T>A (p.Val2383Asp)
c.1919T>A (p.Val640Asp)
c.2042T>A (p.Val681Asp)
4g.125434374T>CCA358135373FAT4c.7148T>C (p.Val2383Ala)
c.1919T>C (p.Val640Ala)
c.2042T>C (p.Val681Ala)
4g.125434374T>GCA358135372FAT4c.7148T>G (p.Val2383Gly)
c.1919T>G (p.Val640Gly)
c.2042T>G (p.Val681Gly)
4g.125434375T>ACA441205048FAT4c.7149T>A (p.Val2383=)
c.1920T>A (p.Val640=)
c.2043T>A (p.Val681=)
COSMIC COSMIC
4g.125434375T>CCA441205049FAT4c.7149T>C (p.Val2383=)
c.1920T>C (p.Val640=)
c.2043T>C (p.Val681=)
4g.125434375T>GCA441205050FAT4c.7149T>G (p.Val2383=)
c.1920T>G (p.Val640=)
c.2043T>G (p.Val681=)
4g.125434376T>ACA358135375FAT4c.7150T>A (p.Leu2384Ile)
c.1921T>A (p.Leu641Ile)
c.2044T>A (p.Leu682Ile)
4g.125434376T>CCA441205051FAT4c.7150T>C (p.Leu2384=)
c.1921T>C (p.Leu641=)
c.2044T>C (p.Leu682=)
4g.125434376T>GCA358135376FAT4c.7150T>G (p.Leu2384Val)
c.1921T>G (p.Leu641Val)
c.2044T>G (p.Leu682Val)
4g.125434377T>ACA358135378FAT4c.7151T>A (p.Leu2384Ter)
c.1922T>A (p.Leu641Ter)
c.2045T>A (p.Leu682Ter)
4g.125434377T>CCA3073103FAT4c.7151T>C (p.Leu2384Ser)
c.1922T>C (p.Leu641Ser)
c.2045T>C (p.Leu682Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434377T>GCA358135379FAT4c.7151T>G (p.Leu2384Ter)
c.1922T>G (p.Leu641Ter)
c.2045T>G (p.Leu682Ter)
4g.125434377T=CA1491646843FAT4c.7151T= (p.Leu2384=)
c.1922T= (p.Leu641=)
c.2045T= (p.Leu682=)
4g.125434378A>CCA358135382FAT4c.7152A>C (p.Leu2384Phe)
c.1923A>C (p.Leu641Phe)
c.2046A>C (p.Leu682Phe)
4g.125434378A>GCA441205052FAT4c.7152A>G (p.Leu2384=)
c.1923A>G (p.Leu641=)
c.2046A>G (p.Leu682=)
4g.125434378A>TCA358135383FAT4c.7152A>T (p.Leu2384Phe)
c.1923A>T (p.Leu641Phe)
c.2046A>T (p.Leu682Phe)
4g.125434379T>ACA358135385FAT4c.7153T>A (p.Leu2385Met)
c.1924T>A (p.Leu642Met)
c.2047T>A (p.Leu683Met)
4g.125434379T>CCA441205053FAT4c.7153T>C (p.Leu2385=)
c.1924T>C (p.Leu642=)
c.2047T>C (p.Leu683=)
gnomAD v4
4g.125434379T>GCA358135386FAT4c.7153T>G (p.Leu2385Val)
c.1924T>G (p.Leu642Val)
c.2047T>G (p.Leu683Val)
4g.125434380T>ACA358135388FAT4c.7154T>A (p.Leu2385Ter)
c.1925T>A (p.Leu642Ter)
c.2048T>A (p.Leu683Ter)
4g.125434380T>CCA358135389FAT4c.7154T>C (p.Leu2385Ser)
c.1925T>C (p.Leu642Ser)
c.2048T>C (p.Leu683Ser)
COSMIC COSMIC
4g.125434380T>GCA358135391FAT4c.7154T>G (p.Leu2385Trp)
c.1925T>G (p.Leu642Trp)
c.2048T>G (p.Leu683Trp)
4g.125434381G>ACA441205054FAT4c.7155G>A (p.Leu2385=)
c.1926G>A (p.Leu642=)
c.2049G>A (p.Leu683=)
4g.125434381G>CCA358135393FAT4c.7155G>C (p.Leu2385Phe)
c.1926G>C (p.Leu642Phe)
c.2049G>C (p.Leu683Phe)
4g.125434381G>TCA358135394FAT4c.7155G>T (p.Leu2385Phe)
c.1926G>T (p.Leu642Phe)
c.2049G>T (p.Leu683Phe)
4g.125434382G>ACA358135396FAT4c.7156G>A (p.Val2386Ile)
c.1927G>A (p.Val643Ile)
c.2050G>A (p.Val684Ile)
4g.125434382G>CCA358135398FAT4c.7156G>C (p.Val2386Leu)
c.1927G>C (p.Val643Leu)
c.2050G>C (p.Val684Leu)
gnomAD v4
4g.125434382G>TCA358135399FAT4c.7156G>T (p.Val2386Leu)
c.1927G>T (p.Val643Leu)
c.2050G>T (p.Val684Leu)
4g.125434383T>ACA358135405FAT4c.7157T>A (p.Val2386Glu)
c.1928T>A (p.Val643Glu)
c.2051T>A (p.Val684Glu)
4g.125434383T>CCA358135401FAT4c.7157T>C (p.Val2386Ala)
c.1928T>C (p.Val643Ala)
c.2051T>C (p.Val684Ala)
4g.125434383T>GCA358135403FAT4c.7157T>G (p.Val2386Gly)
c.1928T>G (p.Val643Gly)
c.2051T>G (p.Val684Gly)
4g.125434384A>CCA441205055FAT4c.7158A>C (p.Val2386=)
c.1929A>C (p.Val643=)
c.2052A>C (p.Val684=)
4g.125434384A>GCA441205056FAT4c.7158A>G (p.Val2386=)
c.1929A>G (p.Val643=)
c.2052A>G (p.Val684=)
4g.125434384A>TCA441205057FAT4c.7158A>T (p.Val2386=)
c.1929A>T (p.Val643=)
c.2052A>T (p.Val684=)
4g.125434385A>CCA358135406FAT4c.7159A>C (p.Asn2387His)
c.1930A>C (p.Asn644His)
c.2053A>C (p.Asn685His)
4g.125434385A>GCA358135408FAT4c.7159A>G (p.Asn2387Asp)
c.1930A>G (p.Asn644Asp)
c.2053A>G (p.Asn685Asp)
gnomAD v4
4g.125434385A>TCA358135409FAT4c.7159A>T (p.Asn2387Tyr)
c.1930A>T (p.Asn644Tyr)
c.2053A>T (p.Asn685Tyr)
4g.125434386A>CCA358135411FAT4c.7160A>C (p.Asn2387Thr)
c.1931A>C (p.Asn644Thr)
c.2054A>C (p.Asn685Thr)
4g.125434386A>GCA358135413FAT4c.7160A>G (p.Asn2387Ser)
c.1931A>G (p.Asn644Ser)
c.2054A>G (p.Asn685Ser)
4g.125434386A>TCA358135414FAT4c.7160A>T (p.Asn2387Ile)
c.1931A>T (p.Asn644Ile)
c.2054A>T (p.Asn685Ile)
4g.125434387T>ACA358135416FAT4c.7161T>A (p.Asn2387Lys)
c.1932T>A (p.Asn644Lys)
c.2055T>A (p.Asn685Lys)
4g.125434387T>CCA441205058FAT4c.7161T>C (p.Asn2387=)
c.1932T>C (p.Asn644=)
c.2055T>C (p.Asn685=)
4g.125434387T>GCA358135418FAT4c.7161T>G (p.Asn2387Lys)
c.1932T>G (p.Asn644Lys)
c.2055T>G (p.Asn685Lys)
4g.125434388G>ACA358135420FAT4c.7162G>A (p.Ala2388Thr)
c.1933G>A (p.Ala645Thr)
c.2056G>A (p.Ala686Thr)
gnomAD v4
4g.125434388G>CCA358135421FAT4c.7162G>C (p.Ala2388Pro)
c.1933G>C (p.Ala645Pro)
c.2056G>C (p.Ala686Pro)
4g.125434388G>TCA358135423FAT4c.7162G>T (p.Ala2388Ser)
c.1933G>T (p.Ala645Ser)
c.2056G>T (p.Ala686Ser)
4g.125434389C>ACA358135425FAT4c.7163C>A (p.Ala2388Asp)
c.1934C>A (p.Ala645Asp)
c.2057C>A (p.Ala686Asp)
gnomAD v4
4g.125434389C=CA1491646844FAT4c.7163C= (p.Ala2388=)
c.1934C= (p.Ala645=)
c.2057C= (p.Ala686=)
4g.125434389C>GCA3073104FAT4c.7163C>G (p.Ala2388Gly)
c.1934C>G (p.Ala645Gly)
c.2057C>G (p.Ala686Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434389C>TCA3073105FAT4c.7163C>T (p.Ala2388Val)
c.1934C>T (p.Ala645Val)
c.2057C>T (p.Ala686Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434390C>ACA441205059FAT4c.7164C>A (p.Ala2388=)
c.1935C>A (p.Ala645=)
c.2058C>A (p.Ala686=)
4g.125434390C=CA1491646845FAT4c.7164C= (p.Ala2388=)
c.1935C= (p.Ala645=)
c.2058C= (p.Ala686=)
4g.125434390C>GCA441205060FAT4c.7164C>G (p.Ala2388=)
c.1935C>G (p.Ala645=)
c.2058C>G (p.Ala686=)
4g.125434390C>TCA3073106FAT4c.7164C>T (p.Ala2388=)
c.1935C>T (p.Ala645=)
c.2058C>T (p.Ala686=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125434391T>ACA358135428FAT4c.7165T>A (p.Ser2389Thr)
c.1936T>A (p.Ser646Thr)
c.2059T>A (p.Ser687Thr)
4g.125434391T>CCA358135429FAT4c.7165T>C (p.Ser2389Pro)
c.1936T>C (p.Ser646Pro)
c.2059T>C (p.Ser687Pro)
4g.125434391T>GCA358135430FAT4c.7165T>G (p.Ser2389Ala)
c.1936T>G (p.Ser646Ala)
c.2059T>G (p.Ser687Ala)
4g.125434392C>ACA358135432FAT4c.7166C>A (p.Ser2389Ter)
c.1937C>A (p.Ser646Ter)
c.2060C>A (p.Ser687Ter)
4g.125434392C>GCA358135434FAT4c.7166C>G (p.Ser2389Ter)
c.1937C>G (p.Ser646Ter)
c.2060C>G (p.Ser687Ter)
4g.125434392C>TCA358135435FAT4c.7166C>T (p.Ser2389Leu)
c.1937C>T (p.Ser646Leu)
c.2060C>T (p.Ser687Leu)
COSMIC COSMIC
4g.125434393A=CA1491646846FAT4c.7167A= (p.Ser2389=)
c.1938A= (p.Ser646=)
c.2061A= (p.Ser687=)
4g.125434393A>CCA441205061FAT4c.7167A>C (p.Ser2389=)
c.1938A>C (p.Ser646=)
c.2061A>C (p.Ser687=)
dbSNP gnomAD v2 gnomAD v4
4g.125434393A>GCA441205062FAT4c.7167A>G (p.Ser2389=)
c.1938A>G (p.Ser646=)
c.2061A>G (p.Ser687=)
4g.125434393A>TCA441205063FAT4c.7167A>T (p.Ser2389=)
c.1938A>T (p.Ser646=)
c.2061A>T (p.Ser687=)
4g.125434394G>ACA358135436FAT4c.7168G>A (p.Asp2390Asn)
c.1939G>A (p.Asp647Asn)
c.2062G>A (p.Asp688Asn)
4g.125434394G>CCA358135437FAT4c.7168G>C (p.Asp2390His)
c.1939G>C (p.Asp647His)
c.2062G>C (p.Asp688His)
4g.125434394G>TCA358135439FAT4c.7168G>T (p.Asp2390Tyr)
c.1939G>T (p.Asp647Tyr)
c.2062G>T (p.Asp688Tyr)
4g.125434395A>CCA358135441FAT4c.7169A>C (p.Asp2390Ala)
c.1940A>C (p.Asp647Ala)
c.2063A>C (p.Asp688Ala)
4g.125434395A>GCA358135443FAT4c.7169A>G (p.Asp2390Gly)
c.1940A>G (p.Asp647Gly)
c.2063A>G (p.Asp688Gly)
gnomAD v4
4g.125434395A>TCA358135444FAT4c.7169A>T (p.Asp2390Val)
c.1940A>T (p.Asp647Val)
c.2063A>T (p.Asp688Val)
4g.125434396T>ACA358135448FAT4c.7170T>A (p.Asp2390Glu)
c.1941T>A (p.Asp647Glu)
c.2064T>A (p.Asp688Glu)
4g.125434396T>CCA3073107FAT4c.7170T>C (p.Asp2390=)
c.1941T>C (p.Asp647=)
c.2064T>C (p.Asp688=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434396T>GCA358135446FAT4c.7170T>G (p.Asp2390Glu)
c.1941T>G (p.Asp647Glu)
c.2064T>G (p.Asp688Glu)
4g.125434396T=CA1491646847FAT4c.7170T= (p.Asp2390=)
c.1941T= (p.Asp647=)
c.2064T= (p.Asp688=)
4g.125434397G>ACA358135450FAT4c.7171G>A (p.Ala2391Thr)
c.1942G>A (p.Ala648Thr)
c.2065G>A (p.Ala689Thr)
dbSNP gnomAD v3 gnomAD v4
4g.125434397G>CCA358135451FAT4c.7171G>C (p.Ala2391Pro)
c.1942G>C (p.Ala648Pro)
c.2065G>C (p.Ala689Pro)
4g.125434397G=CA1491646848FAT4c.7171G= (p.Ala2391=)
c.1942G= (p.Ala648=)
c.2065G= (p.Ala689=)
4g.125434397G>TCA358135452FAT4c.7171G>T (p.Ala2391Ser)
c.1942G>T (p.Ala648Ser)
c.2065G>T (p.Ala689Ser)
4g.125434398C>ACA358135454FAT4c.7172C>A (p.Ala2391Asp)
c.1943C>A (p.Ala648Asp)
c.2066C>A (p.Ala689Asp)
4g.125434398C>GCA358135456FAT4c.7172C>G (p.Ala2391Gly)
c.1943C>G (p.Ala648Gly)
c.2066C>G (p.Ala689Gly)
4g.125434398C>TCA358135457FAT4c.7172C>T (p.Ala2391Val)
c.1943C>T (p.Ala648Val)
c.2066C>T (p.Ala689Val)
gnomAD v4
4g.125434399T>ACA441205064FAT4c.7173T>A (p.Ala2391=)
c.1944T>A (p.Ala648=)
c.2067T>A (p.Ala689=)
4g.125434399T>CCA441205065FAT4c.7173T>C (p.Ala2391=)
c.1944T>C (p.Ala648=)
c.2067T>C (p.Ala689=)
dbSNP
4g.125434399T>GCA441205066FAT4c.7173T>G (p.Ala2391=)
c.1944T>G (p.Ala648=)
c.2067T>G (p.Ala689=)
4g.125434399T=CA1491646849FAT4c.7173T= (p.Ala2391=)
c.1944T= (p.Ala648=)
c.2067T= (p.Ala689=)
4g.125434400G>ACA358135459FAT4c.7174G>A (p.Asp2392Asn)
c.1945G>A (p.Asp649Asn)
c.2068G>A (p.Asp690Asn)
4g.125434400G>CCA358135460FAT4c.7174G>C (p.Asp2392His)
c.1945G>C (p.Asp649His)
c.2068G>C (p.Asp690His)
4g.125434400G>TCA358135461FAT4c.7174G>T (p.Asp2392Tyr)
c.1945G>T (p.Asp649Tyr)
c.2068G>T (p.Asp690Tyr)
4g.125434401A>CCA358135463FAT4c.7175A>C (p.Asp2392Ala)
c.1946A>C (p.Asp649Ala)
c.2069A>C (p.Asp690Ala)
4g.125434401A>GCA358135465FAT4c.7175A>G (p.Asp2392Gly)
c.1946A>G (p.Asp649Gly)
c.2069A>G (p.Asp690Gly)
gnomAD v4
4g.125434401A>TCA358135466FAT4c.7175A>T (p.Asp2392Val)
c.1946A>T (p.Asp649Val)
c.2069A>T (p.Asp690Val)
4g.125434402T>ACA358135468FAT4c.7176T>A (p.Asp2392Glu)
c.1947T>A (p.Asp649Glu)
c.2070T>A (p.Asp690Glu)
4g.125434402T>CCA441205067FAT4c.7176T>C (p.Asp2392=)
c.1947T>C (p.Asp649=)
c.2070T>C (p.Asp690=)
4g.125434402T>GCA358135469FAT4c.7176T>G (p.Asp2392Glu)
c.1947T>G (p.Asp649Glu)
c.2070T>G (p.Asp690Glu)
4g.125434403G>ACA358135471FAT4c.7177G>A (p.Ala2393Thr)
c.1948G>A (p.Ala650Thr)
c.2071G>A (p.Ala691Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.125434403G>CCA358135474FAT4c.7177G>C (p.Ala2393Pro)
c.1948G>C (p.Ala650Pro)
c.2071G>C (p.Ala691Pro)
4g.125434403G=CA1491646850FAT4c.7177G= (p.Ala2393=)
c.1948G= (p.Ala650=)
c.2071G= (p.Ala691=)
4g.125434403G>TCA358135473FAT4c.7177G>T (p.Ala2393Ser)
c.1948G>T (p.Ala650Ser)
c.2071G>T (p.Ala691Ser)
4g.125434404C>ACA358135475FAT4c.7178C>A (p.Ala2393Asp)
c.1949C>A (p.Ala650Asp)
c.2072C>A (p.Ala691Asp)
4g.125434404C>GCA358135476FAT4c.7178C>G (p.Ala2393Gly)
c.1949C>G (p.Ala650Gly)
c.2072C>G (p.Ala691Gly)
4g.125434404C>TCA358135477FAT4c.7178C>T (p.Ala2393Val)
c.1949C>T (p.Ala650Val)
c.2072C>T (p.Ala691Val)
4g.125434405T>ACA441205068FAT4c.7179T>A (p.Ala2393=)
c.1950T>A (p.Ala650=)
c.2073T>A (p.Ala691=)
4g.125434405T>CCA441205069FAT4c.7179T>C (p.Ala2393=)
c.1950T>C (p.Ala650=)
c.2073T>C (p.Ala691=)
dbSNP
4g.125434405T>GCA441205070FAT4c.7179T>G (p.Ala2393=)
c.1950T>G (p.Ala650=)
c.2073T>G (p.Ala691=)
gnomAD v4
4g.125434405T=CA1491646851FAT4c.7179T= (p.Ala2393=)
c.1950T= (p.Ala650=)
c.2073T= (p.Ala691=)
4g.125434406T>ACA358135478FAT4c.7180T>A (p.Ser2394Thr)
c.1951T>A (p.Ser651Thr)
c.2074T>A (p.Ser692Thr)
4g.125434406T>CCA358135479FAT4c.7180T>C (p.Ser2394Pro)
c.1951T>C (p.Ser651Pro)
c.2074T>C (p.Ser692Pro)
4g.125434406T>GCA358135481FAT4c.7180T>G (p.Ser2394Ala)
c.1951T>G (p.Ser651Ala)
c.2074T>G (p.Ser692Ala)
4g.125434407C>ACA358135482FAT4c.7181C>A (p.Ser2394Ter)
c.1952C>A (p.Ser651Ter)
c.2075C>A (p.Ser692Ter)
4g.125434407C>GCA358135483FAT4c.7181C>G (p.Ser2394Ter)
c.1952C>G (p.Ser651Ter)
c.2075C>G (p.Ser692Ter)
4g.125434407C>TCA358135484FAT4c.7181C>T (p.Ser2394Leu)
c.1952C>T (p.Ser651Leu)
c.2075C>T (p.Ser692Leu)
COSMIC COSMIC
4g.125434408A>CCA441205073FAT4c.7182A>C (p.Ser2394=)
c.1953A>C (p.Ser651=)
c.2076A>C (p.Ser692=)
gnomAD v4
4g.125434408A>GCA441205071FAT4c.7182A>G (p.Ser2394=)
c.1953A>G (p.Ser651=)
c.2076A>G (p.Ser692=)
gnomAD v4
4g.125434408A>TCA441205072FAT4c.7182A>T (p.Ser2394=)
c.1953A>T (p.Ser651=)
c.2076A>T (p.Ser692=)
4g.125434409A=CA1491646852FAT4c.7183A= (p.Lys2395=)
c.1954A= (p.Lys652=)
c.2077A= (p.Lys693=)
4g.125434409A>CCA358135485FAT4c.7183A>C (p.Lys2395Gln)
c.1954A>C (p.Lys652Gln)
c.2077A>C (p.Lys693Gln)
4g.125434409A>GCA358135486FAT4c.7183A>G (p.Lys2395Glu)
c.1954A>G (p.Lys652Glu)
c.2077A>G (p.Lys693Glu)
dbSNP gnomAD v2 gnomAD v4
4g.125434409A>TCA358135488FAT4c.7183A>T (p.Lys2395Ter)
c.1954A>T (p.Lys652Ter)
c.2077A>T (p.Lys693Ter)
4g.125434410A>CCA358135490FAT4c.7184A>C (p.Lys2395Thr)
c.1955A>C (p.Lys652Thr)
c.2078A>C (p.Lys693Thr)
dbSNP
4g.125434410A>GCA358135492FAT4c.7184A>G (p.Lys2395Arg)
c.1955A>G (p.Lys652Arg)
c.2078A>G (p.Lys693Arg)
4g.125434410A>TCA358135491FAT4c.7184A>T (p.Lys2395Met)
c.1955A>T (p.Lys652Met)
c.2078A>T (p.Lys693Met)
4g.125434411G>ACA441205074FAT4c.7185G>A (p.Lys2395=)
c.1956G>A (p.Lys652=)
c.2079G>A (p.Lys693=)
4g.125434411G>CCA358135494FAT4c.7185G>C (p.Lys2395Asn)
c.1956G>C (p.Lys652Asn)
c.2079G>C (p.Lys693Asn)
4g.125434411G=CA1491646853FAT4c.7185G= (p.Lys2395=)
c.1956G= (p.Lys652=)
c.2079G= (p.Lys693=)
4g.125434411G>TCA3073108FAT4c.7185G>T (p.Lys2395Asn)
c.1956G>T (p.Lys652Asn)
c.2079G>T (p.Lys693Asn)
dbSNP ExAC gnomAD v2 COSMIC COSMIC
4g.125434412A>CCA358135497FAT4c.7186A>C (p.Asn2396His)
c.1957A>C (p.Asn653His)
c.2080A>C (p.Asn694His)
4g.125434412A>GCA358135498FAT4c.7186A>G (p.Asn2396Asp)
c.1957A>G (p.Asn653Asp)
c.2080A>G (p.Asn694Asp)
4g.125434412A>TCA358135499FAT4c.7186A>T (p.Asn2396Tyr)
c.1957A>T (p.Asn653Tyr)
c.2080A>T (p.Asn694Tyr)
4g.125434413A=CA1491646854FAT4c.7187A= (p.Asn2396=)
c.1958A= (p.Asn653=)
c.2081A= (p.Asn694=)
4g.125434413A>CCA104869427FAT4c.7187A>C (p.Asn2396Thr)
c.1958A>C (p.Asn653Thr)
c.2081A>C (p.Asn694Thr)
dbSNP
4g.125434413A>GCA3073109FAT4c.7187A>G (p.Asn2396Ser)
c.1958A>G (p.Asn653Ser)
c.2081A>G (p.Asn694Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434413A>TCA358135503FAT4c.7187A>T (p.Asn2396Ile)
c.1958A>T (p.Asn653Ile)
c.2081A>T (p.Asn694Ile)
4g.125434414T>ACA358135504FAT4c.7188T>A (p.Asn2396Lys)
c.1959T>A (p.Asn653Lys)
c.2082T>A (p.Asn694Lys)
4g.125434414T>CCA441205075FAT4c.7188T>C (p.Asn2396=)
c.1959T>C (p.Asn653=)
c.2082T>C (p.Asn694=)
gnomAD v4
4g.125434414T>GCA358135506FAT4c.7188T>G (p.Asn2396Lys)
c.1959T>G (p.Asn653Lys)
c.2082T>G (p.Asn694Lys)
4g.125434415G>ACA358135510FAT4c.7189G>A (p.Ala2397Thr)
c.1960G>A (p.Ala654Thr)
c.2083G>A (p.Ala695Thr)
ClinVar dbSNP gnomAD v4
4g.125434415G>CCA358135511FAT4c.7189G>C (p.Ala2397Pro)
c.1960G>C (p.Ala654Pro)
c.2083G>C (p.Ala695Pro)
4g.125434415G=CA1491646855FAT4c.7189G= (p.Ala2397=)
c.1960G= (p.Ala654=)
c.2083G= (p.Ala695=)
4g.125434415G>TCA358135508FAT4c.7189G>T (p.Ala2397Ser)
c.1960G>T (p.Ala654Ser)
c.2083G>T (p.Ala695Ser)
4g.125434416C>ACA358135512FAT4c.7190C>A (p.Ala2397Glu)
c.1961C>A (p.Ala654Glu)
c.2084C>A (p.Ala695Glu)
4g.125434416C>GCA358135513FAT4c.7190C>G (p.Ala2397Gly)
c.1961C>G (p.Ala654Gly)
c.2084C>G (p.Ala695Gly)
4g.125434416C>TCA358135515FAT4c.7190C>T (p.Ala2397Val)
c.1961C>T (p.Ala654Val)
c.2084C>T (p.Ala695Val)
ClinVar gnomAD v4
4g.125434417A=CA1491646856FAT4c.7191A= (p.Ala2397=)
c.1962A= (p.Ala654=)
c.2085A= (p.Ala695=)
4g.125434417A>CCA441205076FAT4c.7191A>C (p.Ala2397=)
c.1962A>C (p.Ala654=)
c.2085A>C (p.Ala695=)
4g.125434417A>GCA3073110FAT4c.7191A>G (p.Ala2397=)
c.1962A>G (p.Ala654=)
c.2085A>G (p.Ala695=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434417A>TCA441205077FAT4c.7191A>T (p.Ala2397=)
c.1962A>T (p.Ala654=)
c.2085A>T (p.Ala695=)
4g.125434418G>ACA358135517FAT4c.7192G>A (p.Val2398Ile)
c.1963G>A (p.Val655Ile)
c.2086G>A (p.Val696Ile)
gnomAD v4
4g.125434418G>CCA358135519FAT4c.7192G>C (p.Val2398Leu)
c.1963G>C (p.Val655Leu)
c.2086G>C (p.Val696Leu)
4g.125434418G>TCA358135520FAT4c.7192G>T (p.Val2398Phe)
c.1963G>T (p.Val655Phe)
c.2086G>T (p.Val696Phe)
4g.125434419T>ACA358135523FAT4c.7193T>A (p.Val2398Asp)
c.1964T>A (p.Val655Asp)
c.2087T>A (p.Val696Asp)
4g.125434419T>CCA358135524FAT4c.7193T>C (p.Val2398Ala)
c.1964T>C (p.Val655Ala)
c.2087T>C (p.Val696Ala)
4g.125434419T>GCA358135525FAT4c.7193T>G (p.Val2398Gly)
c.1964T>G (p.Val655Gly)
c.2087T>G (p.Val696Gly)
COSMIC COSMIC
4g.125434420T>ACA441205078FAT4c.7194T>A (p.Val2398=)
c.1965T>A (p.Val655=)
c.2088T>A (p.Val696=)
4g.125434420T>CCA441205079FAT4c.7194T>C (p.Val2398=)
c.1965T>C (p.Val655=)
c.2088T>C (p.Val696=)
4g.125434420T>GCA441205080FAT4c.7194T>G (p.Val2398=)
c.1965T>G (p.Val655=)
c.2088T>G (p.Val696=)
4g.125434421A=CA1491646857FAT4c.7195A= (p.Ile2399=)
c.1966A= (p.Ile656=)
c.2089A= (p.Ile697=)
4g.125434421A>CCA358135526FAT4c.7195A>C (p.Ile2399Leu)
c.1966A>C (p.Ile656Leu)
c.2089A>C (p.Ile697Leu)
gnomAD v4
4g.125434421A>GCA3073111FAT4c.7195A>G (p.Ile2399Val)
c.1966A>G (p.Ile656Val)
c.2089A>G (p.Ile697Val)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125434421A>TCA358135527FAT4c.7195A>T (p.Ile2399Leu)
c.1966A>T (p.Ile656Leu)
c.2089A>T (p.Ile697Leu)
4g.125434422T>ACA358135529FAT4c.7196T>A (p.Ile2399Lys)
c.1967T>A (p.Ile656Lys)
c.2090T>A (p.Ile697Lys)
dbSNP gnomAD v4
4g.125434422T>CCA3073112FAT4c.7196T>C (p.Ile2399Thr)
c.1967T>C (p.Ile656Thr)
c.2090T>C (p.Ile697Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125434422T>GCA358135528FAT4c.7196T>G (p.Ile2399Arg)
c.1967T>G (p.Ile656Arg)
c.2090T>G (p.Ile697Arg)
4g.125434422T=CA1491646858FAT4c.7196T= (p.Ile2399=)
c.1967T= (p.Ile656=)
c.2090T= (p.Ile697=)
4g.125434423A>CCA441205081FAT4c.7197A>C (p.Ile2399=)
c.1968A>C (p.Ile656=)
c.2091A>C (p.Ile697=)
gnomAD v4
4g.125434423A>GCA358135531FAT4c.7197A>G (p.Ile2399Met)
c.1968A>G (p.Ile656Met)
c.2091A>G (p.Ile697Met)
4g.125434423A>TCA441205082FAT4c.7197A>T (p.Ile2399=)
c.1968A>T (p.Ile656=)
c.2091A>T (p.Ile697=)
4g.125434424A>CCA441205083FAT4c.7198A>C (p.Ser2400Arg)
c.1969A>C (p.Ser657Arg)
c.2092A>C (p.Arg698=)
c.7198A>C (p.Arg2400=)
4g.125434424A>GCA358135532FAT4c.7198A>G (p.Ser2400Gly)
c.1969A>G (p.Ser657Gly)
c.2092A>G (p.Arg698Gly)
c.7198A>G (p.Arg2400Gly)
4g.125434424A>TCA358135534FAT4c.7198A>T (p.Ser2400Cys)
c.1969A>T (p.Ser657Cys)
c.2092A>T (p.Arg698Trp)
c.7198A>T (p.Arg2400Trp)
4g.125434425G>ACA358135536FAT4c.7199G>A (p.Ser2400Asn)
c.1970G>A (p.Ser657Asn)
c.2093G>A (p.Arg698Lys)
c.7199G>A (p.Arg2400Lys)
gnomAD v4
4g.125434425G>CCA358135537FAT4c.7199G>C (p.Ser2400Thr)
c.1970G>C (p.Ser657Thr)
c.2093G>C (p.Arg698Thr)
c.7199G>C (p.Arg2400Thr)
4g.125434425G>TCA358135538FAT4c.7199G>T (p.Ser2400Ile)
c.1970G>T (p.Ser657Ile)
c.2093G>T (p.Arg698Met)
c.7199G>T (p.Arg2400Met)
4g.125434426G>ACA358135540FAT4c.7199+1G>A (n.7199+1G>A)
c.1970+1G>A (n.1970+1G>A)
c.2093+1G>A (n.2093+1G>A)
4g.125434426G>CCA358135542FAT4c.7199+1G>C (n.7199+1G>C)
c.1970+1G>C (n.1970+1G>C)
c.2093+1G>C (n.2093+1G>C)
4g.125434426G>TCA358135543FAT4c.7199+1G>T (n.7199+1G>T)
c.1970+1G>T (n.1970+1G>T)
c.2093+1G>T (n.2093+1G>T)
gnomAD v4
4g.125434427T>ACA358135545FAT4c.7199+2T>A (n.7199+2T>A)
c.1970+2T>A (n.1970+2T>A)
c.2093+2T>A (n.2093+2T>A)
4g.125434427T>CCA358135546FAT4c.7199+2T>C (n.7199+2T>C)
c.1970+2T>C (n.1970+2T>C)
c.2093+2T>C (n.2093+2T>C)
4g.125434427T>GCA358135548FAT4c.7199+2T>G (n.7199+2T>G)
c.1970+2T>G (n.1970+2T>G)
c.2093+2T>G (n.2093+2T>G)
4g.125434428C>ACA2672009891FAT4c.7199+3C>A (n.7199+3C>A)
c.1970+3C>A (n.1970+3C>A)
c.2093+3C>A (n.2093+3C>A)
gnomAD v4
4g.125434428C=CA1491646859FAT4c.7199+3C= (n.7199+3C=)
c.1970+3C= (n.1970+3C=)
c.2093+3C= (n.2093+3C=)
4g.125434428C>TCA3073113FAT4c.7199+3C>T (n.7199+3C>T)
c.1970+3C>T (n.1970+3C>T)
c.2093+3C>T (n.2093+3C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.125434432A>GCA2578191089FAT4c.7199+7A>G (n.7199+7A>G)
c.1970+7A>G (n.1970+7A>G)
c.2093+7A>G (n.2093+7A>G)
4g.125434433C>ACA2672009892FAT4c.7199+8C>A (n.7199+8C>A)
c.1970+8C>A (n.1970+8C>A)
c.2093+8C>A (n.2093+8C>A)
gnomAD v4
4g.125434433C=CA1491646860FAT4c.7199+8C= (n.7199+8C=)
c.1970+8C= (n.1970+8C=)
c.2093+8C= (n.2093+8C=)
4g.125434433C>TCA1491646861FAT4c.7199+8C>T (n.7199+8C>T)
c.1970+8C>T (n.1970+8C>T)
c.2093+8C>T (n.2093+8C>T)
dbSNP gnomAD v4
4g.125434434A=CA1491646862FAT4c.7199+9A= (n.7199+9A=)
c.1970+9A= (n.1970+9A=)
c.2093+9A= (n.2093+9A=)
4g.125434434A>CCA555019409FAT4c.7199+9A>C (n.7199+9A>C)
c.1970+9A>C (n.1970+9A>C)
c.2093+9A>C (n.2093+9A>C)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched