Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.25891851_25891868delCA2695230061APPn.2035_2052del
n.465_482del
n.734_751del
c.2068_2085del (p.Phe690_Val695del)
c.1843_1860del (p.Phe615_Val620del)
c.1675_1692del (p.Phe559_Val564del)
c.2011_2028del (p.Phe671_Val676del)
c.2014_2031del (p.Phe672_Val677del)
c.1738_1755del (p.Phe580_Val585del)
c.1900_1917del (p.Phe634_Val639del)
c.1996_2013del (p.Phe666_Val671del)
n.415_432del
c.1957_1974del (p.Phe653_Val658del)
c.1789_1806del (p.Phe597_Val602del)
21g.25891855_25891857delCA2654122495APPn.2046_2048del
n.476_478del
n.745_747del
c.2079_2081del (p.Glu693del)
c.1854_1856del (p.Glu618del)
c.1686_1688del (p.Glu562del)
c.2022_2024del (p.Glu674del)
c.2025_2027del (p.Glu675del)
c.1749_1751del (p.Glu583del)
c.1911_1913del (p.Glu637del)
c.2007_2009del (p.Glu669del)
n.426_428del
c.1968_1970del (p.Glu656del)
c.1800_1802del (p.Glu600del)
gnomAD v4
21g.25891855T>ACA409805687APPn.2045A>T
n.475A>T
n.744A>T
c.2078A>T (p.Glu693Val)
c.1853A>T (p.Glu618Val)
c.1685A>T (p.Glu562Val)
c.2021A>T (p.Glu674Val)
c.2024A>T (p.Glu675Val)
c.1748A>T (p.Glu583Val)
c.1910A>T (p.Glu637Val)
c.2006A>T (p.Glu669Val)
n.425A>T
c.1967A>T (p.Glu656Val)
c.1799A>T (p.Glu600Val)
21g.25891855T>CCA127801APPn.2045A>G
n.475A>G
n.744A>G
c.2078A>G (p.Glu693Gly)
c.1853A>G (p.Glu618Gly)
c.1685A>G (p.Glu562Gly)
c.2021A>G (p.Glu674Gly)
c.2024A>G (p.Glu675Gly)
c.1748A>G (p.Glu583Gly)
c.1910A>G (p.Glu637Gly)
c.2006A>G (p.Glu669Gly)
n.425A>G
c.1967A>G (p.Glu656Gly)
c.1799A>G (p.Glu600Gly)
ClinVar dbSNP
21g.25891855T>GCA409805688APPn.2045A>C
n.475A>C
n.744A>C
c.2078A>C (p.Glu693Ala)
c.1853A>C (p.Glu618Ala)
c.1685A>C (p.Glu562Ala)
c.2021A>C (p.Glu674Ala)
c.2024A>C (p.Glu675Ala)
c.1748A>C (p.Glu583Ala)
c.1910A>C (p.Glu637Ala)
c.2006A>C (p.Glu669Ala)
n.425A>C
c.1967A>C (p.Glu656Ala)
c.1799A>C (p.Glu600Ala)
21g.25891855T=CA2383551644APPn.2045A=
n.475A=
n.744A=
c.2078A= (p.Glu693=)
c.1853A= (p.Glu618=)
c.1685A= (p.Glu562=)
c.2021A= (p.Glu674=)
c.2024A= (p.Glu675=)
c.1748A= (p.Glu583=)
c.1910A= (p.Glu637=)
c.2006A= (p.Glu669=)
n.425A=
c.1967A= (p.Glu656=)
c.1799A= (p.Glu600=)
21g.25891856C>ACA409805689APPn.2044G>T
n.474G>T
n.743G>T
c.2077G>T (p.Glu693Ter)
c.1852G>T (p.Glu618Ter)
c.1684G>T (p.Glu562Ter)
c.2020G>T (p.Glu674Ter)
c.2023G>T (p.Glu675Ter)
c.1747G>T (p.Glu583Ter)
c.1909G>T (p.Glu637Ter)
c.2005G>T (p.Glu669Ter)
n.424G>T
c.1966G>T (p.Glu656Ter)
c.1798G>T (p.Glu600Ter)
21g.25891856C=CA2383551645APPn.2044G=
n.474G=
n.743G=
c.2077G= (p.Glu693=)
c.1852G= (p.Glu618=)
c.1684G= (p.Glu562=)
c.2020G= (p.Glu674=)
c.2023G= (p.Glu675=)
c.1747G= (p.Glu583=)
c.1909G= (p.Glu637=)
c.2005G= (p.Glu669=)
n.424G=
c.1966G= (p.Glu656=)
c.1798G= (p.Glu600=)
21g.25891856C>GCA127790APPn.2044G>C
n.474G>C
n.743G>C
c.2077G>C (p.Glu693Gln)
c.1852G>C (p.Glu618Gln)
c.1684G>C (p.Glu562Gln)
c.2020G>C (p.Glu674Gln)
c.2023G>C (p.Glu675Gln)
c.1747G>C (p.Glu583Gln)
c.1909G>C (p.Glu637Gln)
c.2005G>C (p.Glu669Gln)
n.424G>C
c.1966G>C (p.Glu656Gln)
c.1798G>C (p.Glu600Gln)
ClinVar dbSNP
21g.25891856C>TCA127802APPn.2044G>A
n.474G>A
n.743G>A
c.2077G>A (p.Glu693Lys)
c.1852G>A (p.Glu618Lys)
c.1684G>A (p.Glu562Lys)
c.2020G>A (p.Glu674Lys)
c.2023G>A (p.Glu675Lys)
c.1747G>A (p.Glu583Lys)
c.1909G>A (p.Glu637Lys)
c.2005G>A (p.Glu669Lys)
n.424G>A
c.1966G>A (p.Glu656Lys)
c.1798G>A (p.Glu600Lys)
ClinVar dbSNP
21g.25891857T>ACA511686048APPn.2043A>T
n.473A>T
n.742A>T
c.2076A>T (p.Ala692=)
c.1851A>T (p.Ala617=)
c.1683A>T (p.Ala561=)
c.2019A>T (p.Ala673=)
c.2022A>T (p.Ala674=)
c.1746A>T (p.Ala582=)
c.1908A>T (p.Ala636=)
c.2004A>T (p.Ala668=)
n.423A>T
c.1965A>T (p.Ala655=)
c.1797A>T (p.Ala599=)
21g.25891857T>CCA511686047APPn.2043A>G
n.473A>G
n.742A>G
c.2076A>G (p.Ala692=)
c.1851A>G (p.Ala617=)
c.1683A>G (p.Ala561=)
c.2019A>G (p.Ala673=)
c.2022A>G (p.Ala674=)
c.1746A>G (p.Ala582=)
c.1908A>G (p.Ala636=)
c.2004A>G (p.Ala668=)
n.423A>G
c.1965A>G (p.Ala655=)
c.1797A>G (p.Ala599=)
21g.25891857T>GCA511686049APPn.2043A>C
n.473A>C
n.742A>C
c.2076A>C (p.Ala692=)
c.1851A>C (p.Ala617=)
c.1683A>C (p.Ala561=)
c.2019A>C (p.Ala673=)
c.2022A>C (p.Ala674=)
c.1746A>C (p.Ala582=)
c.1908A>C (p.Ala636=)
c.2004A>C (p.Ala668=)
n.423A>C
c.1965A>C (p.Ala655=)
c.1797A>C (p.Ala599=)
dbSNP gnomAD v4
21g.25891857T=CA2383551646APPn.2043A=
n.473A=
n.742A=
c.2076A= (p.Ala692=)
c.1851A= (p.Ala617=)
c.1683A= (p.Ala561=)
c.2019A= (p.Ala673=)
c.2022A= (p.Ala674=)
c.1746A= (p.Ala582=)
c.1908A= (p.Ala636=)
c.2004A= (p.Ala668=)
n.423A=
c.1965A= (p.Ala655=)
c.1797A= (p.Ala599=)
21g.25891858G>ACA409805690APPn.2042C>T
n.472C>T
n.741C>T
c.2075C>T (p.Ala692Val)
c.1850C>T (p.Ala617Val)
c.1682C>T (p.Ala561Val)
c.2018C>T (p.Ala673Val)
c.2021C>T (p.Ala674Val)
c.1745C>T (p.Ala582Val)
c.1907C>T (p.Ala636Val)
c.2003C>T (p.Ala668Val)
n.422C>T
c.1964C>T (p.Ala655Val)
c.1796C>T (p.Ala599Val)
21g.25891858G>CCA127794APPn.2042C>G
n.472C>G
n.741C>G
c.2075C>G (p.Ala692Gly)
c.1850C>G (p.Ala617Gly)
c.1682C>G (p.Ala561Gly)
c.2018C>G (p.Ala673Gly)
c.2021C>G (p.Ala674Gly)
c.1745C>G (p.Ala582Gly)
c.1907C>G (p.Ala636Gly)
c.2003C>G (p.Ala668Gly)
n.422C>G
c.1964C>G (p.Ala655Gly)
c.1796C>G (p.Ala599Gly)
ClinVar dbSNP
21g.25891858G=CA2383551647APPn.2042C=
n.472C=
n.741C=
c.2075C= (p.Ala692=)
c.1850C= (p.Ala617=)
c.1682C= (p.Ala561=)
c.2018C= (p.Ala673=)
c.2021C= (p.Ala674=)
c.1745C= (p.Ala582=)
c.1907C= (p.Ala636=)
c.2003C= (p.Ala668=)
n.422C=
c.1964C= (p.Ala655=)
c.1796C= (p.Ala599=)
21g.25891858G>TCA409805691APPn.2042C>A
n.472C>A
n.741C>A
c.2075C>A (p.Ala692Glu)
c.1850C>A (p.Ala617Glu)
c.1682C>A (p.Ala561Glu)
c.2018C>A (p.Ala673Glu)
c.2021C>A (p.Ala674Glu)
c.1745C>A (p.Ala582Glu)
c.1907C>A (p.Ala636Glu)
c.2003C>A (p.Ala668Glu)
n.422C>A
c.1964C>A (p.Ala655Glu)
c.1796C>A (p.Ala599Glu)
COSMIC
21g.25891859C>ACA409805692APPn.2041G>T
n.471G>T
n.740G>T
c.2074G>T (p.Ala692Ser)
c.1849G>T (p.Ala617Ser)
c.1681G>T (p.Ala561Ser)
c.2017G>T (p.Ala673Ser)
c.2020G>T (p.Ala674Ser)
c.1744G>T (p.Ala582Ser)
c.1906G>T (p.Ala636Ser)
c.2002G>T (p.Ala668Ser)
n.421G>T
c.1963G>T (p.Ala655Ser)
c.1795G>T (p.Ala599Ser)
21g.25891859C=CA2383551648APPn.2041G=
n.471G=
n.740G=
c.2074G= (p.Ala692=)
c.1849G= (p.Ala617=)
c.1681G= (p.Ala561=)
c.2017G= (p.Ala673=)
c.2020G= (p.Ala674=)
c.1744G= (p.Ala582=)
c.1906G= (p.Ala636=)
c.2002G= (p.Ala668=)
n.421G=
c.1963G= (p.Ala655=)
c.1795G= (p.Ala599=)
21g.25891859C>GCA409805693APPn.2041G>C
n.471G>C
n.740G>C
c.2074G>C (p.Ala692Pro)
c.1849G>C (p.Ala617Pro)
c.1681G>C (p.Ala561Pro)
c.2017G>C (p.Ala673Pro)
c.2020G>C (p.Ala674Pro)
c.1744G>C (p.Ala582Pro)
c.1906G>C (p.Ala636Pro)
c.2002G>C (p.Ala668Pro)
n.421G>C
c.1963G>C (p.Ala655Pro)
c.1795G>C (p.Ala599Pro)
21g.25891859C>TCA409805694APPn.2041G>A
n.471G>A
n.740G>A
c.2074G>A (p.Ala692Thr)
c.1849G>A (p.Ala617Thr)
c.1681G>A (p.Ala561Thr)
c.2017G>A (p.Ala673Thr)
c.2020G>A (p.Ala674Thr)
c.1744G>A (p.Ala582Thr)
c.1906G>A (p.Ala636Thr)
c.2002G>A (p.Ala668Thr)
n.421G>A
c.1963G>A (p.Ala655Thr)
c.1795G>A (p.Ala599Thr)
dbSNP gnomAD v3 gnomAD v4
21g.25891860A>CCA409805696APPn.2040T>G
n.470T>G
n.739T>G
c.2073T>G (p.Phe691Leu)
c.1848T>G (p.Phe616Leu)
c.1680T>G (p.Phe560Leu)
c.2016T>G (p.Phe672Leu)
c.2019T>G (p.Phe673Leu)
c.1743T>G (p.Phe581Leu)
c.1905T>G (p.Phe635Leu)
c.2001T>G (p.Phe667Leu)
n.420T>G
c.1962T>G (p.Phe654Leu)
c.1794T>G (p.Phe598Leu)
21g.25891860A>GCA511686050APPn.2040T>C
n.470T>C
n.739T>C
c.2073T>C (p.Phe691=)
c.1848T>C (p.Phe616=)
c.1680T>C (p.Phe560=)
c.2016T>C (p.Phe672=)
c.2019T>C (p.Phe673=)
c.1743T>C (p.Phe581=)
c.1905T>C (p.Phe635=)
c.2001T>C (p.Phe667=)
n.420T>C
c.1962T>C (p.Phe654=)
c.1794T>C (p.Phe598=)
21g.25891860A>TCA409805695APPn.2040T>A
n.470T>A
n.739T>A
c.2073T>A (p.Phe691Leu)
c.1848T>A (p.Phe616Leu)
c.1680T>A (p.Phe560Leu)
c.2016T>A (p.Phe672Leu)
c.2019T>A (p.Phe673Leu)
c.1743T>A (p.Phe581Leu)
c.1905T>A (p.Phe635Leu)
c.2001T>A (p.Phe667Leu)
n.420T>A
c.1962T>A (p.Phe654Leu)
c.1794T>A (p.Phe598Leu)
21g.25891861A>CCA409805697APPn.2039T>G
n.469T>G
n.738T>G
c.2072T>G (p.Phe691Cys)
c.1847T>G (p.Phe616Cys)
c.1679T>G (p.Phe560Cys)
c.2015T>G (p.Phe672Cys)
c.2018T>G (p.Phe673Cys)
c.1742T>G (p.Phe581Cys)
c.1904T>G (p.Phe635Cys)
c.2000T>G (p.Phe667Cys)
n.419T>G
c.1961T>G (p.Phe654Cys)
c.1793T>G (p.Phe598Cys)
21g.25891861A>GCA409805698APPn.2039T>C
n.469T>C
n.738T>C
c.2072T>C (p.Phe691Ser)
c.1847T>C (p.Phe616Ser)
c.1679T>C (p.Phe560Ser)
c.2015T>C (p.Phe672Ser)
c.2018T>C (p.Phe673Ser)
c.1742T>C (p.Phe581Ser)
c.1904T>C (p.Phe635Ser)
c.2000T>C (p.Phe667Ser)
n.419T>C
c.1961T>C (p.Phe654Ser)
c.1793T>C (p.Phe598Ser)
21g.25891861A>TCA409805699APPn.2039T>A
n.469T>A
n.738T>A
c.2072T>A (p.Phe691Tyr)
c.1847T>A (p.Phe616Tyr)
c.1679T>A (p.Phe560Tyr)
c.2015T>A (p.Phe672Tyr)
c.2018T>A (p.Phe673Tyr)
c.1742T>A (p.Phe581Tyr)
c.1904T>A (p.Phe635Tyr)
c.2000T>A (p.Phe667Tyr)
n.419T>A
c.1961T>A (p.Phe654Tyr)
c.1793T>A (p.Phe598Tyr)
21g.25891862A=CA2383551649APPn.2038T=
n.468T=
n.737T=
c.2071T= (p.Phe691=)
c.1846T= (p.Phe616=)
c.1678T= (p.Phe560=)
c.2014T= (p.Phe672=)
c.2017T= (p.Phe673=)
c.1741T= (p.Phe581=)
c.1903T= (p.Phe635=)
c.1999T= (p.Phe667=)
n.418T=
c.1960T= (p.Phe654=)
c.1792T= (p.Phe598=)
21g.25891862A>CCA409805700APPn.2038T>G
n.468T>G
n.737T>G
c.2071T>G (p.Phe691Val)
c.1846T>G (p.Phe616Val)
c.1678T>G (p.Phe560Val)
c.2014T>G (p.Phe672Val)
c.2017T>G (p.Phe673Val)
c.1741T>G (p.Phe581Val)
c.1903T>G (p.Phe635Val)
c.1999T>G (p.Phe667Val)
n.418T>G
c.1960T>G (p.Phe654Val)
c.1792T>G (p.Phe598Val)
21g.25891862A>GCA409805701APPn.2038T>C
n.468T>C
n.737T>C
c.2071T>C (p.Phe691Leu)
c.1846T>C (p.Phe616Leu)
c.1678T>C (p.Phe560Leu)
c.2014T>C (p.Phe672Leu)
c.2017T>C (p.Phe673Leu)
c.1741T>C (p.Phe581Leu)
c.1903T>C (p.Phe635Leu)
c.1999T>C (p.Phe667Leu)
n.418T>C
c.1960T>C (p.Phe654Leu)
c.1792T>C (p.Phe598Leu)
dbSNP
21g.25891862A>TCA409805702APPn.2038T>A
n.468T>A
n.737T>A
c.2071T>A (p.Phe691Ile)
c.1846T>A (p.Phe616Ile)
c.1678T>A (p.Phe560Ile)
c.2014T>A (p.Phe672Ile)
c.2017T>A (p.Phe673Ile)
c.1741T>A (p.Phe581Ile)
c.1903T>A (p.Phe635Ile)
c.1999T>A (p.Phe667Ile)
n.418T>A
c.1960T>A (p.Phe654Ile)
c.1792T>A (p.Phe598Ile)
21g.25891863G>ACA511686051APPn.2037C>T
n.467C>T
n.736C>T
c.2070C>T (p.Phe690=)
c.1845C>T (p.Phe615=)
c.1677C>T (p.Phe559=)
c.2013C>T (p.Phe671=)
c.2016C>T (p.Phe672=)
c.1740C>T (p.Phe580=)
c.1902C>T (p.Phe634=)
c.1998C>T (p.Phe666=)
n.417C>T
c.1959C>T (p.Phe653=)
c.1791C>T (p.Phe597=)
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.25891863G>CCA409805703APPn.2037C>G
n.467C>G
n.736C>G
c.2070C>G (p.Phe690Leu)
c.1845C>G (p.Phe615Leu)
c.1677C>G (p.Phe559Leu)
c.2013C>G (p.Phe671Leu)
c.2016C>G (p.Phe672Leu)
c.1740C>G (p.Phe580Leu)
c.1902C>G (p.Phe634Leu)
c.1998C>G (p.Phe666Leu)
n.417C>G
c.1959C>G (p.Phe653Leu)
c.1791C>G (p.Phe597Leu)
21g.25891863G=CA2383551650APPn.2037C=
n.467C=
n.736C=
c.2070C= (p.Phe690=)
c.1845C= (p.Phe615=)
c.1677C= (p.Phe559=)
c.2013C= (p.Phe671=)
c.2016C= (p.Phe672=)
c.1740C= (p.Phe580=)
c.1902C= (p.Phe634=)
c.1998C= (p.Phe666=)
n.417C=
c.1959C= (p.Phe653=)
c.1791C= (p.Phe597=)
21g.25891863G>TCA319097752APPn.2037C>A
n.467C>A
n.736C>A
c.2070C>A (p.Phe690Leu)
c.1845C>A (p.Phe615Leu)
c.1677C>A (p.Phe559Leu)
c.2013C>A (p.Phe671Leu)
c.2016C>A (p.Phe672Leu)
c.1740C>A (p.Phe580Leu)
c.1902C>A (p.Phe634Leu)
c.1998C>A (p.Phe666Leu)
n.417C>A
c.1959C>A (p.Phe653Leu)
c.1791C>A (p.Phe597Leu)
dbSNP gnomAD v4
21g.25891864A>CCA409805704APPn.2036T>G
n.466T>G
n.735T>G
c.2069T>G (p.Phe690Cys)
c.1844T>G (p.Phe615Cys)
c.1676T>G (p.Phe559Cys)
c.2012T>G (p.Phe671Cys)
c.2015T>G (p.Phe672Cys)
c.1739T>G (p.Phe580Cys)
c.1901T>G (p.Phe634Cys)
c.1997T>G (p.Phe666Cys)
n.416T>G
c.1958T>G (p.Phe653Cys)
c.1790T>G (p.Phe597Cys)
21g.25891864A>GCA409805705APPn.2036T>C
n.466T>C
n.735T>C
c.2069T>C (p.Phe690Ser)
c.1844T>C (p.Phe615Ser)
c.1676T>C (p.Phe559Ser)
c.2012T>C (p.Phe671Ser)
c.2015T>C (p.Phe672Ser)
c.1739T>C (p.Phe580Ser)
c.1901T>C (p.Phe634Ser)
c.1997T>C (p.Phe666Ser)
n.416T>C
c.1958T>C (p.Phe653Ser)
c.1790T>C (p.Phe597Ser)
21g.25891864A>TCA409805706APPn.2036T>A
n.466T>A
n.735T>A
c.2069T>A (p.Phe690Tyr)
c.1844T>A (p.Phe615Tyr)
c.1676T>A (p.Phe559Tyr)
c.2012T>A (p.Phe671Tyr)
c.2015T>A (p.Phe672Tyr)
c.1739T>A (p.Phe580Tyr)
c.1901T>A (p.Phe634Tyr)
c.1997T>A (p.Phe666Tyr)
n.416T>A
c.1958T>A (p.Phe653Tyr)
c.1790T>A (p.Phe597Tyr)
21g.25891865A>CCA409805707APPn.2035T>G
n.465T>G
n.734T>G
c.2068T>G (p.Phe690Val)
c.1843T>G (p.Phe615Val)
c.1675T>G (p.Phe559Val)
c.2011T>G (p.Phe671Val)
c.2014T>G (p.Phe672Val)
c.1738T>G (p.Phe580Val)
c.1900T>G (p.Phe634Val)
c.1996T>G (p.Phe666Val)
n.415T>G
c.1957T>G (p.Phe653Val)
c.1789T>G (p.Phe597Val)
21g.25891865A>GCA409805708APPn.2035T>C
n.465T>C
n.734T>C
c.2068T>C (p.Phe690Leu)
c.1843T>C (p.Phe615Leu)
c.1675T>C (p.Phe559Leu)
c.2011T>C (p.Phe671Leu)
c.2014T>C (p.Phe672Leu)
c.1738T>C (p.Phe580Leu)
c.1900T>C (p.Phe634Leu)
c.1996T>C (p.Phe666Leu)
n.415T>C
c.1957T>C (p.Phe653Leu)
c.1789T>C (p.Phe597Leu)
21g.25891865A>TCA409805709APPn.2035T>A
n.465T>A
n.734T>A
c.2068T>A (p.Phe690Ile)
c.1843T>A (p.Phe615Ile)
c.1675T>A (p.Phe559Ile)
c.2011T>A (p.Phe671Ile)
c.2014T>A (p.Phe672Ile)
c.1738T>A (p.Phe580Ile)
c.1900T>A (p.Phe634Ile)
c.1996T>A (p.Phe666Ile)
n.415T>A
c.1957T>A (p.Phe653Ile)
c.1789T>A (p.Phe597Ile)
21g.25891866C>ACA511686054APPn.2034G>T
n.464G>T
n.733G>T
c.2067G>T (p.Val689=)
c.1842G>T (p.Val614=)
c.1674G>T (p.Val558=)
c.2010G>T (p.Val670=)
c.2013G>T (p.Val671=)
c.1737G>T (p.Val579=)
c.1899G>T (p.Val633=)
c.1995G>T (p.Val665=)
n.414G>T
c.1956G>T (p.Val652=)
c.1788G>T (p.Val596=)
21g.25891866C>GCA511686052APPn.2034G>C
n.464G>C
n.733G>C
c.2067G>C (p.Val689=)
c.1842G>C (p.Val614=)
c.1674G>C (p.Val558=)
c.2010G>C (p.Val670=)
c.2013G>C (p.Val671=)
c.1737G>C (p.Val579=)
c.1899G>C (p.Val633=)
c.1995G>C (p.Val665=)
n.414G>C
c.1956G>C (p.Val652=)
c.1788G>C (p.Val596=)
21g.25891866C>TCA511686053APPn.2034G>A
n.464G>A
n.733G>A
c.2067G>A (p.Val689=)
c.1842G>A (p.Val614=)
c.1674G>A (p.Val558=)
c.2010G>A (p.Val670=)
c.2013G>A (p.Val671=)
c.1737G>A (p.Val579=)
c.1899G>A (p.Val633=)
c.1995G>A (p.Val665=)
n.414G>A
c.1956G>A (p.Val652=)
c.1788G>A (p.Val596=)
gnomAD v4
21g.25891867A>CCA409805710APPn.2033T>G
n.463T>G
n.732T>G
c.2066T>G (p.Val689Gly)
c.1841T>G (p.Val614Gly)
c.1673T>G (p.Val558Gly)
c.2009T>G (p.Val670Gly)
c.2012T>G (p.Val671Gly)
c.1736T>G (p.Val579Gly)
c.1898T>G (p.Val633Gly)
c.1994T>G (p.Val665Gly)
n.413T>G
c.1955T>G (p.Val652Gly)
c.1787T>G (p.Val596Gly)
21g.25891867A>GCA409805712APPn.2033T>C
n.463T>C
n.732T>C
c.2066T>C (p.Val689Ala)
c.1841T>C (p.Val614Ala)
c.1673T>C (p.Val558Ala)
c.2009T>C (p.Val670Ala)
c.2012T>C (p.Val671Ala)
c.1736T>C (p.Val579Ala)
c.1898T>C (p.Val633Ala)
c.1994T>C (p.Val665Ala)
n.413T>C
c.1955T>C (p.Val652Ala)
c.1787T>C (p.Val596Ala)
21g.25891867A>TCA409805711APPn.2033T>A
n.463T>A
n.732T>A
c.2066T>A (p.Val689Glu)
c.1841T>A (p.Val614Glu)
c.1673T>A (p.Val558Glu)
c.2009T>A (p.Val670Glu)
c.2012T>A (p.Val671Glu)
c.1736T>A (p.Val579Glu)
c.1898T>A (p.Val633Glu)
c.1994T>A (p.Val665Glu)
n.413T>A
c.1955T>A (p.Val652Glu)
c.1787T>A (p.Val596Glu)
21g.25891868C>ACA409805713APPn.2032G>T
n.462G>T
n.731G>T
c.2065G>T (p.Val689Leu)
c.1840G>T (p.Val614Leu)
c.1672G>T (p.Val558Leu)
c.2008G>T (p.Val670Leu)
c.2011G>T (p.Val671Leu)
c.1735G>T (p.Val579Leu)
c.1897G>T (p.Val633Leu)
c.1993G>T (p.Val665Leu)
n.412G>T
c.1954G>T (p.Val652Leu)
c.1786G>T (p.Val596Leu)
21g.25891868C=CA2383551651APPn.2032G=
n.462G=
n.731G=
c.2065G= (p.Val689=)
c.1840G= (p.Val614=)
c.1672G= (p.Val558=)
c.2008G= (p.Val670=)
c.2011G= (p.Val671=)
c.1735G= (p.Val579=)
c.1897G= (p.Val633=)
c.1993G= (p.Val665=)
n.412G=
c.1954G= (p.Val652=)
c.1786G= (p.Val596=)

Number of alleles fetched