| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891811_25891815dup | CA2589711790 | APP | n.2086_2090dup n.516_520dup n.785_789dup c.2119_2123dup (p.Gly709TrpfsTer6) c.1894_1898dup (p.Gly634TrpfsTer6) c.1726_1730dup (p.Gly578TrpfsTer6) c.2062_2066dup (p.Gly690TrpfsTer6) c.2065_2069dup (p.Gly691TrpfsTer6) c.1789_1793dup (p.Gly599TrpfsTer6) c.1951_1955dup (p.Gly653TrpfsTer6) c.2047_2051dup (p.Gly685TrpfsTer6) n.466_470dup c.2008_2012dup (p.Gly672TrpfsTer6) c.1840_1844dup (p.Gly616TrpfsTer6) | gnomAD v3 gnomAD v4 |
| 21 | g.25891814C>A | CA409805599 | APP | n.2086G>T n.516G>T n.785G>T c.2119G>T (p.Val707Leu) c.1894G>T (p.Val632Leu) c.1726G>T (p.Val576Leu) c.2062G>T (p.Val688Leu) c.2065G>T (p.Val689Leu) c.1789G>T (p.Val597Leu) c.1951G>T (p.Val651Leu) c.2047G>T (p.Val683Leu) n.466G>T c.2008G>T (p.Val670Leu) c.1840G>T (p.Val614Leu) | |
| 21 | g.25891814C= | CA2383551630 | APP | n.2086G= n.516G= n.785G= c.2119G= (p.Val707=) c.1894G= (p.Val632=) c.1726G= (p.Val576=) c.2062G= (p.Val688=) c.2065G= (p.Val689=) c.1789G= (p.Val597=) c.1951G= (p.Val651=) c.2047G= (p.Val683=) n.466G= c.2008G= (p.Val670=) c.1840G= (p.Val614=) | |
| 21 | g.25891814C>G | CA409805600 | APP | n.2086G>C n.516G>C n.785G>C c.2119G>C (p.Val707Leu) c.1894G>C (p.Val632Leu) c.1726G>C (p.Val576Leu) c.2062G>C (p.Val688Leu) c.2065G>C (p.Val689Leu) c.1789G>C (p.Val597Leu) c.1951G>C (p.Val651Leu) c.2047G>C (p.Val683Leu) n.466G>C c.2008G>C (p.Val670Leu) c.1840G>C (p.Val614Leu) | |
| 21 | g.25891814C>T | CA9987058 | APP | n.2086G>A n.516G>A n.785G>A c.2119G>A (p.Val707Met) c.1894G>A (p.Val632Met) c.1726G>A (p.Val576Met) c.2062G>A (p.Val688Met) c.2065G>A (p.Val689Met) c.1789G>A (p.Val597Met) c.1951G>A (p.Val651Met) c.2047G>A (p.Val683Met) n.466G>A c.2008G>A (p.Val670Met) c.1840G>A (p.Val614Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.25891815C>A | CA409805601 | APP | n.2085G>T n.515G>T n.784G>T c.2118G>T (p.Met706Ile) c.1893G>T (p.Met631Ile) c.1725G>T (p.Met575Ile) c.2061G>T (p.Met687Ile) c.2064G>T (p.Met688Ile) c.1788G>T (p.Met596Ile) c.1950G>T (p.Met650Ile) c.2046G>T (p.Met682Ile) n.465G>T c.2007G>T (p.Met669Ile) c.1839G>T (p.Met613Ile) | gnomAD v4 |
| 21 | g.25891815C>G | CA409805602 | APP | n.2085G>C n.515G>C n.784G>C c.2118G>C (p.Met706Ile) c.1893G>C (p.Met631Ile) c.1725G>C (p.Met575Ile) c.2061G>C (p.Met687Ile) c.2064G>C (p.Met688Ile) c.1788G>C (p.Met596Ile) c.1950G>C (p.Met650Ile) c.2046G>C (p.Met682Ile) n.465G>C c.2007G>C (p.Met669Ile) c.1839G>C (p.Met613Ile) | |
| 21 | g.25891815C>T | CA409805603 | APP | n.2085G>A n.515G>A n.784G>A c.2118G>A (p.Met706Ile) c.1893G>A (p.Met631Ile) c.1725G>A (p.Met575Ile) c.2061G>A (p.Met687Ile) c.2064G>A (p.Met688Ile) c.1788G>A (p.Met596Ile) c.1950G>A (p.Met650Ile) c.2046G>A (p.Met682Ile) n.465G>A c.2007G>A (p.Met669Ile) c.1839G>A (p.Met613Ile) | |
| 21 | g.25891815_25891817del | CA2654122462 | APP | n.2083_2085del n.513_515del n.782_784del c.2116_2118del (p.Met706del) c.1891_1893del (p.Met631del) c.1723_1725del (p.Met575del) c.2059_2061del (p.Met687del) c.2062_2064del (p.Met688del) c.1786_1788del (p.Met596del) c.1948_1950del (p.Met650del) c.2044_2046del (p.Met682del) n.463_465del c.2005_2007del (p.Met669del) c.1837_1839del (p.Met613del) | gnomAD v4 |
| 21 | g.25891816A= | CA2383551631 | APP | n.2084T= n.514T= n.783T= c.2117T= (p.Met706=) c.1892T= (p.Met631=) c.1724T= (p.Met575=) c.2060T= (p.Met687=) c.2063T= (p.Met688=) c.1787T= (p.Met596=) c.1949T= (p.Met650=) c.2045T= (p.Met682=) n.464T= c.2006T= (p.Met669=) c.1838T= (p.Met613=) | |
| 21 | g.25891816A>C | CA409805605 | APP | n.2084T>G n.514T>G n.783T>G c.2117T>G (p.Met706Arg) c.1892T>G (p.Met631Arg) c.1724T>G (p.Met575Arg) c.2060T>G (p.Met687Arg) c.2063T>G (p.Met688Arg) c.1787T>G (p.Met596Arg) c.1949T>G (p.Met650Arg) c.2045T>G (p.Met682Arg) n.464T>G c.2006T>G (p.Met669Arg) c.1838T>G (p.Met613Arg) | |
| 21 | g.25891816A>G | CA409805606 | APP | n.2084T>C n.514T>C n.783T>C c.2117T>C (p.Met706Thr) c.1892T>C (p.Met631Thr) c.1724T>C (p.Met575Thr) c.2060T>C (p.Met687Thr) c.2063T>C (p.Met688Thr) c.1787T>C (p.Met596Thr) c.1949T>C (p.Met650Thr) c.2045T>C (p.Met682Thr) n.464T>C c.2006T>C (p.Met669Thr) c.1838T>C (p.Met613Thr) | dbSNP |
| 21 | g.25891816A>T | CA409805604 | APP | n.2084T>A n.514T>A n.783T>A c.2117T>A (p.Met706Lys) c.1892T>A (p.Met631Lys) c.1724T>A (p.Met575Lys) c.2060T>A (p.Met687Lys) c.2063T>A (p.Met688Lys) c.1787T>A (p.Met596Lys) c.1949T>A (p.Met650Lys) c.2045T>A (p.Met682Lys) n.464T>A c.2006T>A (p.Met669Lys) c.1838T>A (p.Met613Lys) | |
| 21 | g.25891817T>A | CA409805607 | APP | n.2083A>T n.513A>T n.782A>T c.2116A>T (p.Met706Leu) c.1891A>T (p.Met631Leu) c.1723A>T (p.Met575Leu) c.2059A>T (p.Met687Leu) c.2062A>T (p.Met688Leu) c.1786A>T (p.Met596Leu) c.1948A>T (p.Met650Leu) c.2044A>T (p.Met682Leu) n.463A>T c.2005A>T (p.Met669Leu) c.1837A>T (p.Met613Leu) | |
| 21 | g.25891817T>C | CA409805608 | APP | n.2083A>G n.513A>G n.782A>G c.2116A>G (p.Met706Val) c.1891A>G (p.Met631Val) c.1723A>G (p.Met575Val) c.2059A>G (p.Met687Val) c.2062A>G (p.Met688Val) c.1786A>G (p.Met596Val) c.1948A>G (p.Met650Val) c.2044A>G (p.Met682Val) n.463A>G c.2005A>G (p.Met669Val) c.1837A>G (p.Met613Val) | |
| 21 | g.25891817T>G | CA409805609 | APP | n.2083A>C n.513A>C n.782A>C c.2116A>C (p.Met706Leu) c.1891A>C (p.Met631Leu) c.1723A>C (p.Met575Leu) c.2059A>C (p.Met687Leu) c.2062A>C (p.Met688Leu) c.1786A>C (p.Met596Leu) c.1948A>C (p.Met650Leu) c.2044A>C (p.Met682Leu) n.463A>C c.2005A>C (p.Met669Leu) c.1837A>C (p.Met613Leu) | gnomAD v4 |
| 21 | g.25891818G>A | CA9987059 | APP | n.2082C>T n.512C>T n.781C>T c.2115C>T (p.Leu705=) c.1890C>T (p.Leu630=) c.1722C>T (p.Leu574=) c.2058C>T (p.Leu686=) c.2061C>T (p.Leu687=) c.1785C>T (p.Leu595=) c.1947C>T (p.Leu649=) c.2043C>T (p.Leu681=) n.462C>T c.2004C>T (p.Leu668=) c.1836C>T (p.Leu612=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891818G>C | CA511686019 | APP | n.2082C>G n.512C>G n.781C>G c.2115C>G (p.Leu705=) c.1890C>G (p.Leu630=) c.1722C>G (p.Leu574=) c.2058C>G (p.Leu686=) c.2061C>G (p.Leu687=) c.1785C>G (p.Leu595=) c.1947C>G (p.Leu649=) c.2043C>G (p.Leu681=) n.462C>G c.2004C>G (p.Leu668=) c.1836C>G (p.Leu612=) | |
| 21 | g.25891818G= | CA2383551632 | APP | n.2082C= n.512C= n.781C= c.2115C= (p.Leu705=) c.1890C= (p.Leu630=) c.1722C= (p.Leu574=) c.2058C= (p.Leu686=) c.2061C= (p.Leu687=) c.1785C= (p.Leu595=) c.1947C= (p.Leu649=) c.2043C= (p.Leu681=) n.462C= c.2004C= (p.Leu668=) c.1836C= (p.Leu612=) | |
| 21 | g.25891818G>T | CA511686020 | APP | n.2082C>A n.512C>A n.781C>A c.2115C>A (p.Leu705=) c.1890C>A (p.Leu630=) c.1722C>A (p.Leu574=) c.2058C>A (p.Leu686=) c.2061C>A (p.Leu687=) c.1785C>A (p.Leu595=) c.1947C>A (p.Leu649=) c.2043C>A (p.Leu681=) n.462C>A c.2004C>A (p.Leu668=) c.1836C>A (p.Leu612=) | |
| 21 | g.25891819A>C | CA409805610 | APP | n.2081T>G n.511T>G n.780T>G c.2114T>G (p.Leu705Arg) c.1889T>G (p.Leu630Arg) c.1721T>G (p.Leu574Arg) c.2057T>G (p.Leu686Arg) c.2060T>G (p.Leu687Arg) c.1784T>G (p.Leu595Arg) c.1946T>G (p.Leu649Arg) c.2042T>G (p.Leu681Arg) n.461T>G c.2003T>G (p.Leu668Arg) c.1835T>G (p.Leu612Arg) | |
| 21 | g.25891819A>G | CA409805611 | APP | n.2081T>C n.511T>C n.780T>C c.2114T>C (p.Leu705Pro) c.1889T>C (p.Leu630Pro) c.1721T>C (p.Leu574Pro) c.2057T>C (p.Leu686Pro) c.2060T>C (p.Leu687Pro) c.1784T>C (p.Leu595Pro) c.1946T>C (p.Leu649Pro) c.2042T>C (p.Leu681Pro) n.461T>C c.2003T>C (p.Leu668Pro) c.1835T>C (p.Leu612Pro) | |
| 21 | g.25891819A>T | CA409805612 | APP | n.2081T>A n.511T>A n.780T>A c.2114T>A (p.Leu705His) c.1889T>A (p.Leu630His) c.1721T>A (p.Leu574His) c.2057T>A (p.Leu686His) c.2060T>A (p.Leu687His) c.1784T>A (p.Leu595His) c.1946T>A (p.Leu649His) c.2042T>A (p.Leu681His) n.461T>A c.2003T>A (p.Leu668His) c.1835T>A (p.Leu612His) | |
| 21 | g.25891820G>A | CA409805613 | APP | n.2080C>T n.510C>T n.779C>T c.2113C>T (p.Leu705Phe) c.1888C>T (p.Leu630Phe) c.1720C>T (p.Leu574Phe) c.2056C>T (p.Leu686Phe) c.2059C>T (p.Leu687Phe) c.1783C>T (p.Leu595Phe) c.1945C>T (p.Leu649Phe) c.2041C>T (p.Leu681Phe) n.460C>T c.2002C>T (p.Leu668Phe) c.1834C>T (p.Leu612Phe) | |
| 21 | g.25891820G>C | CA127815 | APP | n.2080C>G n.510C>G n.779C>G c.2113C>G (p.Leu705Val) c.1888C>G (p.Leu630Val) c.1720C>G (p.Leu574Val) c.2056C>G (p.Leu686Val) c.2059C>G (p.Leu687Val) c.1783C>G (p.Leu595Val) c.1945C>G (p.Leu649Val) c.2041C>G (p.Leu681Val) n.460C>G c.2002C>G (p.Leu668Val) c.1834C>G (p.Leu612Val) | ClinVar dbSNP gnomAD v4 |
| 21 | g.25891820G= | CA2383551633 | APP | n.2080C= n.510C= n.779C= c.2113C= (p.Leu705=) c.1888C= (p.Leu630=) c.1720C= (p.Leu574=) c.2056C= (p.Leu686=) c.2059C= (p.Leu687=) c.1783C= (p.Leu595=) c.1945C= (p.Leu649=) c.2041C= (p.Leu681=) n.460C= c.2002C= (p.Leu668=) c.1834C= (p.Leu612=) | |
| 21 | g.25891820G>T | CA409805614 | APP | n.2080C>A n.510C>A n.779C>A c.2113C>A (p.Leu705Ile) c.1888C>A (p.Leu630Ile) c.1720C>A (p.Leu574Ile) c.2056C>A (p.Leu686Ile) c.2059C>A (p.Leu687Ile) c.1783C>A (p.Leu595Ile) c.1945C>A (p.Leu649Ile) c.2041C>A (p.Leu681Ile) n.460C>A c.2002C>A (p.Leu668Ile) c.1834C>A (p.Leu612Ile) | |
| 21 | g.25891821T>A | CA511686022 | APP | n.2079A>T n.509A>T n.778A>T c.2112A>T (p.Gly704=) c.1887A>T (p.Gly629=) c.1719A>T (p.Gly573=) c.2055A>T (p.Gly685=) c.2058A>T (p.Gly686=) c.1782A>T (p.Gly594=) c.1944A>T (p.Gly648=) c.2040A>T (p.Gly680=) n.459A>T c.2001A>T (p.Gly667=) c.1833A>T (p.Gly611=) | |
| 21 | g.25891821T>C | CA511686021 | APP | n.2079A>G n.509A>G n.778A>G c.2112A>G (p.Gly704=) c.1887A>G (p.Gly629=) c.1719A>G (p.Gly573=) c.2055A>G (p.Gly685=) c.2058A>G (p.Gly686=) c.1782A>G (p.Gly594=) c.1944A>G (p.Gly648=) c.2040A>G (p.Gly680=) n.459A>G c.2001A>G (p.Gly667=) c.1833A>G (p.Gly611=) | |
| 21 | g.25891821T>G | CA511686023 | APP | n.2079A>C n.509A>C n.778A>C c.2112A>C (p.Gly704=) c.1887A>C (p.Gly629=) c.1719A>C (p.Gly573=) c.2055A>C (p.Gly685=) c.2058A>C (p.Gly686=) c.1782A>C (p.Gly594=) c.1944A>C (p.Gly648=) c.2040A>C (p.Gly680=) n.459A>C c.2001A>C (p.Gly667=) c.1833A>C (p.Gly611=) | |
| 21 | g.25891822C>A | CA409805615 | APP | n.2078G>T n.508G>T n.777G>T c.2111G>T (p.Gly704Val) c.1886G>T (p.Gly629Val) c.1718G>T (p.Gly573Val) c.2054G>T (p.Gly685Val) c.2057G>T (p.Gly686Val) c.1781G>T (p.Gly594Val) c.1943G>T (p.Gly648Val) c.2039G>T (p.Gly680Val) n.458G>T c.2000G>T (p.Gly667Val) c.1832G>T (p.Gly611Val) | |
| 21 | g.25891822C>G | CA409805616 | APP | n.2078G>C n.508G>C n.777G>C c.2111G>C (p.Gly704Ala) c.1886G>C (p.Gly629Ala) c.1718G>C (p.Gly573Ala) c.2054G>C (p.Gly685Ala) c.2057G>C (p.Gly686Ala) c.1781G>C (p.Gly594Ala) c.1943G>C (p.Gly648Ala) c.2039G>C (p.Gly680Ala) n.458G>C c.2000G>C (p.Gly667Ala) c.1832G>C (p.Gly611Ala) | |
| 21 | g.25891822C>T | CA409805617 | APP | n.2078G>A n.508G>A n.777G>A c.2111G>A (p.Gly704Glu) c.1886G>A (p.Gly629Glu) c.1718G>A (p.Gly573Glu) c.2054G>A (p.Gly685Glu) c.2057G>A (p.Gly686Glu) c.1781G>A (p.Gly594Glu) c.1943G>A (p.Gly648Glu) c.2039G>A (p.Gly680Glu) n.458G>A c.2000G>A (p.Gly667Glu) c.1832G>A (p.Gly611Glu) | |
| 21 | g.25891823C>A | CA409805620 | APP | n.2077G>T n.507G>T n.776G>T c.2110G>T (p.Gly704Ter) c.1885G>T (p.Gly629Ter) c.1717G>T (p.Gly573Ter) c.2053G>T (p.Gly685Ter) c.2056G>T (p.Gly686Ter) c.1780G>T (p.Gly594Ter) c.1942G>T (p.Gly648Ter) c.2038G>T (p.Gly680Ter) n.457G>T c.1999G>T (p.Gly667Ter) c.1831G>T (p.Gly611Ter) | |
| 21 | g.25891823C>G | CA409805619 | APP | n.2077G>C n.507G>C n.776G>C c.2110G>C (p.Gly704Arg) c.1885G>C (p.Gly629Arg) c.1717G>C (p.Gly573Arg) c.2053G>C (p.Gly685Arg) c.2056G>C (p.Gly686Arg) c.1780G>C (p.Gly594Arg) c.1942G>C (p.Gly648Arg) c.2038G>C (p.Gly680Arg) n.457G>C c.1999G>C (p.Gly667Arg) c.1831G>C (p.Gly611Arg) | |
| 21 | g.25891823C>T | CA409805618 | APP | n.2077G>A n.507G>A n.776G>A c.2110G>A (p.Gly704Arg) c.1885G>A (p.Gly629Arg) c.1717G>A (p.Gly573Arg) c.2053G>A (p.Gly685Arg) c.2056G>A (p.Gly686Arg) c.1780G>A (p.Gly594Arg) c.1942G>A (p.Gly648Arg) c.2038G>A (p.Gly680Arg) n.457G>A c.1999G>A (p.Gly667Arg) c.1831G>A (p.Gly611Arg) | COSMIC |
| 21 | g.25891824A>C | CA409805621 | APP | n.2076T>G n.506T>G n.775T>G c.2109T>G (p.Ile703Met) c.1884T>G (p.Ile628Met) c.1716T>G (p.Ile572Met) c.2052T>G (p.Ile684Met) c.2055T>G (p.Ile685Met) c.1779T>G (p.Ile593Met) c.1941T>G (p.Ile647Met) c.2037T>G (p.Ile679Met) n.456T>G c.1998T>G (p.Ile666Met) c.1830T>G (p.Ile610Met) | |
| 21 | g.25891824A>G | CA511686024 | APP | n.2076T>C n.506T>C n.775T>C c.2109T>C (p.Ile703=) c.1884T>C (p.Ile628=) c.1716T>C (p.Ile572=) c.2052T>C (p.Ile684=) c.2055T>C (p.Ile685=) c.1779T>C (p.Ile593=) c.1941T>C (p.Ile647=) c.2037T>C (p.Ile679=) n.456T>C c.1998T>C (p.Ile666=) c.1830T>C (p.Ile610=) | |
| 21 | g.25891824A>T | CA511686025 | APP | n.2076T>A n.506T>A n.775T>A c.2109T>A (p.Ile703=) c.1884T>A (p.Ile628=) c.1716T>A (p.Ile572=) c.2052T>A (p.Ile684=) c.2055T>A (p.Ile685=) c.1779T>A (p.Ile593=) c.1941T>A (p.Ile647=) c.2037T>A (p.Ile679=) n.456T>A c.1998T>A (p.Ile666=) c.1830T>A (p.Ile610=) | |
| 21 | g.25891825A>C | CA409805622 | APP | n.2075T>G n.505T>G n.774T>G c.2108T>G (p.Ile703Ser) c.1883T>G (p.Ile628Ser) c.1715T>G (p.Ile572Ser) c.2051T>G (p.Ile684Ser) c.2054T>G (p.Ile685Ser) c.1778T>G (p.Ile593Ser) c.1940T>G (p.Ile647Ser) c.2036T>G (p.Ile679Ser) n.455T>G c.1997T>G (p.Ile666Ser) c.1829T>G (p.Ile610Ser) | |
| 21 | g.25891825A>G | CA409805623 | APP | n.2075T>C n.505T>C n.774T>C c.2108T>C (p.Ile703Thr) c.1883T>C (p.Ile628Thr) c.1715T>C (p.Ile572Thr) c.2051T>C (p.Ile684Thr) c.2054T>C (p.Ile685Thr) c.1778T>C (p.Ile593Thr) c.1940T>C (p.Ile647Thr) c.2036T>C (p.Ile679Thr) n.455T>C c.1997T>C (p.Ile666Thr) c.1829T>C (p.Ile610Thr) | gnomAD v4 |
| 21 | g.25891825A>T | CA409805624 | APP | n.2075T>A n.505T>A n.774T>A c.2108T>A (p.Ile703Asn) c.1883T>A (p.Ile628Asn) c.1715T>A (p.Ile572Asn) c.2051T>A (p.Ile684Asn) c.2054T>A (p.Ile685Asn) c.1778T>A (p.Ile593Asn) c.1940T>A (p.Ile647Asn) c.2036T>A (p.Ile679Asn) n.455T>A c.1997T>A (p.Ile666Asn) c.1829T>A (p.Ile610Asn) | |
| 21 | g.25891826T>A | CA409805625 | APP | n.2074A>T n.504A>T n.773A>T c.2107A>T (p.Ile703Phe) c.1882A>T (p.Ile628Phe) c.1714A>T (p.Ile572Phe) c.2050A>T (p.Ile684Phe) c.2053A>T (p.Ile685Phe) c.1777A>T (p.Ile593Phe) c.1939A>T (p.Ile647Phe) c.2035A>T (p.Ile679Phe) n.454A>T c.1996A>T (p.Ile666Phe) c.1828A>T (p.Ile610Phe) | |
| 21 | g.25891826T>C | CA9987060 | APP | n.2074A>G n.504A>G n.773A>G c.2107A>G (p.Ile703Val) c.1882A>G (p.Ile628Val) c.1714A>G (p.Ile572Val) c.2050A>G (p.Ile684Val) c.2053A>G (p.Ile685Val) c.1777A>G (p.Ile593Val) c.1939A>G (p.Ile647Val) c.2035A>G (p.Ile679Val) n.454A>G c.1996A>G (p.Ile666Val) c.1828A>G (p.Ile610Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891826T>G | CA409805626 | APP | n.2074A>C n.504A>C n.773A>C c.2107A>C (p.Ile703Leu) c.1882A>C (p.Ile628Leu) c.1714A>C (p.Ile572Leu) c.2050A>C (p.Ile684Leu) c.2053A>C (p.Ile685Leu) c.1777A>C (p.Ile593Leu) c.1939A>C (p.Ile647Leu) c.2035A>C (p.Ile679Leu) n.454A>C c.1996A>C (p.Ile666Leu) c.1828A>C (p.Ile610Leu) | |
| 21 | g.25891826T= | CA2383551634 | APP | n.2074A= n.504A= n.773A= c.2107A= (p.Ile703=) c.1882A= (p.Ile628=) c.1714A= (p.Ile572=) c.2050A= (p.Ile684=) c.2053A= (p.Ile685=) c.1777A= (p.Ile593=) c.1939A= (p.Ile647=) c.2035A= (p.Ile679=) n.454A= c.1996A= (p.Ile666=) c.1828A= (p.Ile610=) | |
| 21 | g.25891827G>A | CA511686027 | APP | n.2073C>T n.503C>T n.772C>T c.2106C>T (p.Ile702=) c.1881C>T (p.Ile627=) c.1713C>T (p.Ile571=) c.2049C>T (p.Ile683=) c.2052C>T (p.Ile684=) c.1776C>T (p.Ile592=) c.1938C>T (p.Ile646=) c.2034C>T (p.Ile678=) n.453C>T c.1995C>T (p.Ile665=) c.1827C>T (p.Ile609=) | |
| 21 | g.25891827G>C | CA409805627 | APP | n.2073C>G n.503C>G n.772C>G c.2106C>G (p.Ile702Met) c.1881C>G (p.Ile627Met) c.1713C>G (p.Ile571Met) c.2049C>G (p.Ile683Met) c.2052C>G (p.Ile684Met) c.1776C>G (p.Ile592Met) c.1938C>G (p.Ile646Met) c.2034C>G (p.Ile678Met) n.453C>G c.1995C>G (p.Ile665Met) c.1827C>G (p.Ile609Met) | ClinVar gnomAD v4 |
| 21 | g.25891827G>T | CA511686026 | APP | n.2073C>A n.503C>A n.772C>A c.2106C>A (p.Ile702=) c.1881C>A (p.Ile627=) c.1713C>A (p.Ile571=) c.2049C>A (p.Ile683=) c.2052C>A (p.Ile684=) c.1776C>A (p.Ile592=) c.1938C>A (p.Ile646=) c.2034C>A (p.Ile678=) n.453C>A c.1995C>A (p.Ile665=) c.1827C>A (p.Ile609=) | |
| 21 | g.25891828A>C | CA409805628 | APP | n.2072T>G n.502T>G n.771T>G c.2105T>G (p.Ile702Ser) c.1880T>G (p.Ile627Ser) c.1712T>G (p.Ile571Ser) c.2048T>G (p.Ile683Ser) c.2051T>G (p.Ile684Ser) c.1775T>G (p.Ile592Ser) c.1937T>G (p.Ile646Ser) c.2033T>G (p.Ile678Ser) n.452T>G c.1994T>G (p.Ile665Ser) c.1826T>G (p.Ile609Ser) |