Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.25891758C>A | CA409805496 | APP | n.2142G>T n.572G>T n.841G>T c.2175G>T (p.Lys725Asn) c.1950G>T (p.Lys650Asn) c.1782G>T (p.Lys594Asn) c.2118G>T (p.Lys706Asn) c.2121G>T (p.Lys707Asn) c.1845G>T (p.Lys615Asn) c.2007G>T (p.Lys669Asn) c.2103G>T (p.Lys701Asn) n.522G>T c.2064G>T (p.Lys688Asn) c.1896G>T (p.Lys632Asn) | |
21 | g.25891758C= | CA2383551603 | APP | n.2142G= n.572G= n.841G= c.2175G= (p.Lys725=) c.1950G= (p.Lys650=) c.1782G= (p.Lys594=) c.2118G= (p.Lys706=) c.2121G= (p.Lys707=) c.1845G= (p.Lys615=) c.2007G= (p.Lys669=) c.2103G= (p.Lys701=) n.522G= c.2064G= (p.Lys688=) c.1896G= (p.Lys632=) | |
21 | g.25891758C>G | CA409805497 | APP | n.2142G>C n.572G>C n.841G>C c.2175G>C (p.Lys725Asn) c.1950G>C (p.Lys650Asn) c.1782G>C (p.Lys594Asn) c.2118G>C (p.Lys706Asn) c.2121G>C (p.Lys707Asn) c.1845G>C (p.Lys615Asn) c.2007G>C (p.Lys669Asn) c.2103G>C (p.Lys701Asn) n.522G>C c.2064G>C (p.Lys688Asn) c.1896G>C (p.Lys632Asn) | ClinVar dbSNP gnomAD v4 |
21 | g.25891758C>T | CA511685975 | APP | n.2142G>A n.572G>A n.841G>A c.2175G>A (p.Lys725=) c.1950G>A (p.Lys650=) c.1782G>A (p.Lys594=) c.2118G>A (p.Lys706=) c.2121G>A (p.Lys707=) c.1845G>A (p.Lys615=) c.2007G>A (p.Lys669=) c.2103G>A (p.Lys701=) n.522G>A c.2064G>A (p.Lys688=) c.1896G>A (p.Lys632=) | dbSNP |
21 | g.25891759T>A | CA409805498 | APP | n.2141A>T n.571A>T n.840A>T c.2174A>T (p.Lys725Met) c.1949A>T (p.Lys650Met) c.1781A>T (p.Lys594Met) c.2117A>T (p.Lys706Met) c.2120A>T (p.Lys707Met) c.1844A>T (p.Lys615Met) c.2006A>T (p.Lys669Met) c.2102A>T (p.Lys701Met) n.521A>T c.2063A>T (p.Lys688Met) c.1895A>T (p.Lys632Met) | |
21 | g.25891759T>C | CA409805499 | APP | n.2141A>G n.571A>G n.840A>G c.2174A>G (p.Lys725Arg) c.1949A>G (p.Lys650Arg) c.1781A>G (p.Lys594Arg) c.2117A>G (p.Lys706Arg) c.2120A>G (p.Lys707Arg) c.1844A>G (p.Lys615Arg) c.2006A>G (p.Lys669Arg) c.2102A>G (p.Lys701Arg) n.521A>G c.2063A>G (p.Lys688Arg) c.1895A>G (p.Lys632Arg) | gnomAD v4 |
21 | g.25891759T>G | CA409805500 | APP | n.2141A>C n.571A>C n.840A>C c.2174A>C (p.Lys725Thr) c.1949A>C (p.Lys650Thr) c.1781A>C (p.Lys594Thr) c.2117A>C (p.Lys706Thr) c.2120A>C (p.Lys707Thr) c.1844A>C (p.Lys615Thr) c.2006A>C (p.Lys669Thr) c.2102A>C (p.Lys701Thr) n.521A>C c.2063A>C (p.Lys688Thr) c.1895A>C (p.Lys632Thr) | |
21 | g.25891760T>A | CA409805501 | APP | n.2140A>T n.570A>T n.839A>T c.2173A>T (p.Lys725Ter) c.1948A>T (p.Lys650Ter) c.1780A>T (p.Lys594Ter) c.2116A>T (p.Lys706Ter) c.2119A>T (p.Lys707Ter) c.1843A>T (p.Lys615Ter) c.2005A>T (p.Lys669Ter) c.2101A>T (p.Lys701Ter) n.520A>T c.2062A>T (p.Lys688Ter) c.1894A>T (p.Lys632Ter) | |
21 | g.25891760T>C | CA409805502 | APP | n.2140A>G n.570A>G n.839A>G c.2173A>G (p.Lys725Glu) c.1948A>G (p.Lys650Glu) c.1780A>G (p.Lys594Glu) c.2116A>G (p.Lys706Glu) c.2119A>G (p.Lys707Glu) c.1843A>G (p.Lys615Glu) c.2005A>G (p.Lys669Glu) c.2101A>G (p.Lys701Glu) n.520A>G c.2062A>G (p.Lys688Glu) c.1894A>G (p.Lys632Glu) | |
21 | g.25891760T>G | CA409805503 | APP | n.2140A>C n.570A>C n.839A>C c.2173A>C (p.Lys725Gln) c.1948A>C (p.Lys650Gln) c.1780A>C (p.Lys594Gln) c.2116A>C (p.Lys706Gln) c.2119A>C (p.Lys707Gln) c.1843A>C (p.Lys615Gln) c.2005A>C (p.Lys669Gln) c.2101A>C (p.Lys701Gln) n.520A>C c.2062A>C (p.Lys688Gln) c.1894A>C (p.Lys632Gln) | |
21 | g.25891761C>A | CA409805504 | APP | n.2139G>T n.569G>T n.838G>T c.2172G>T (p.Lys724Asn) c.1947G>T (p.Lys649Asn) c.1779G>T (p.Lys593Asn) c.2115G>T (p.Lys705Asn) c.2118G>T (p.Lys706Asn) c.1842G>T (p.Lys614Asn) c.2004G>T (p.Lys668Asn) c.2100G>T (p.Lys700Asn) n.519G>T c.2061G>T (p.Lys687Asn) c.1893G>T (p.Lys631Asn) | gnomAD v4 |
21 | g.25891761C= | CA2383551604 | APP | n.2139G= n.569G= n.838G= c.2172G= (p.Lys724=) c.1947G= (p.Lys649=) c.1779G= (p.Lys593=) c.2115G= (p.Lys705=) c.2118G= (p.Lys706=) c.1842G= (p.Lys614=) c.2004G= (p.Lys668=) c.2100G= (p.Lys700=) n.519G= c.2061G= (p.Lys687=) c.1893G= (p.Lys631=) | |
21 | g.25891761C>G | CA225514 | APP | n.2139G>C n.569G>C n.838G>C c.2172G>C (p.Lys724Asn) c.1947G>C (p.Lys649Asn) c.1779G>C (p.Lys593Asn) c.2115G>C (p.Lys705Asn) c.2118G>C (p.Lys706Asn) c.1842G>C (p.Lys614Asn) c.2004G>C (p.Lys668Asn) c.2100G>C (p.Lys700Asn) n.519G>C c.2061G>C (p.Lys687Asn) c.1893G>C (p.Lys631Asn) | ClinVar dbSNP |
21 | g.25891761C>T | CA511685976 | APP | n.2139G>A n.569G>A n.838G>A c.2172G>A (p.Lys724=) c.1947G>A (p.Lys649=) c.1779G>A (p.Lys593=) c.2115G>A (p.Lys705=) c.2118G>A (p.Lys706=) c.1842G>A (p.Lys614=) c.2004G>A (p.Lys668=) c.2100G>A (p.Lys700=) n.519G>A c.2061G>A (p.Lys687=) c.1893G>A (p.Lys631=) | dbSNP |
21 | g.25891762T>A | CA409805505 | APP | n.2138A>T n.568A>T n.837A>T c.2171A>T (p.Lys724Met) c.1946A>T (p.Lys649Met) c.1778A>T (p.Lys593Met) c.2114A>T (p.Lys705Met) c.2117A>T (p.Lys706Met) c.1841A>T (p.Lys614Met) c.2003A>T (p.Lys668Met) c.2099A>T (p.Lys700Met) n.518A>T c.2060A>T (p.Lys687Met) c.1892A>T (p.Lys631Met) | |
21 | g.25891762T>C | CA409805507 | APP | n.2138A>G n.568A>G n.837A>G c.2171A>G (p.Lys724Arg) c.1946A>G (p.Lys649Arg) c.1778A>G (p.Lys593Arg) c.2114A>G (p.Lys705Arg) c.2117A>G (p.Lys706Arg) c.1841A>G (p.Lys614Arg) c.2003A>G (p.Lys668Arg) c.2099A>G (p.Lys700Arg) n.518A>G c.2060A>G (p.Lys687Arg) c.1892A>G (p.Lys631Arg) | |
21 | g.25891762T>G | CA409805506 | APP | n.2138A>C n.568A>C n.837A>C c.2171A>C (p.Lys724Thr) c.1946A>C (p.Lys649Thr) c.1778A>C (p.Lys593Thr) c.2114A>C (p.Lys705Thr) c.2117A>C (p.Lys706Thr) c.1841A>C (p.Lys614Thr) c.2003A>C (p.Lys668Thr) c.2099A>C (p.Lys700Thr) n.518A>C c.2060A>C (p.Lys687Thr) c.1892A>C (p.Lys631Thr) | |
21 | g.25891763T>A | CA409805508 | APP | n.2137A>T n.567A>T n.836A>T c.2170A>T (p.Lys724Ter) c.1945A>T (p.Lys649Ter) c.1777A>T (p.Lys593Ter) c.2113A>T (p.Lys705Ter) c.2116A>T (p.Lys706Ter) c.1840A>T (p.Lys614Ter) c.2002A>T (p.Lys668Ter) c.2098A>T (p.Lys700Ter) n.517A>T c.2059A>T (p.Lys687Ter) c.1891A>T (p.Lys631Ter) | |
21 | g.25891763T>C | CA409805509 | APP | n.2137A>G n.567A>G n.836A>G c.2170A>G (p.Lys724Glu) c.1945A>G (p.Lys649Glu) c.1777A>G (p.Lys593Glu) c.2113A>G (p.Lys705Glu) c.2116A>G (p.Lys706Glu) c.1840A>G (p.Lys614Glu) c.2002A>G (p.Lys668Glu) c.2098A>G (p.Lys700Glu) n.517A>G c.2059A>G (p.Lys687Glu) c.1891A>G (p.Lys631Glu) | |
21 | g.25891763T>G | CA409805510 | APP | n.2137A>C n.567A>C n.836A>C c.2170A>C (p.Lys724Gln) c.1945A>C (p.Lys649Gln) c.1777A>C (p.Lys593Gln) c.2113A>C (p.Lys705Gln) c.2116A>C (p.Lys706Gln) c.1840A>C (p.Lys614Gln) c.2002A>C (p.Lys668Gln) c.2098A>C (p.Lys700Gln) n.517A>C c.2059A>C (p.Lys687Gln) c.1891A>C (p.Lys631Gln) | |
21 | g.25891764C>A | CA511685977 | APP | n.2136G>T n.566G>T n.835G>T c.2169G>T (p.Leu723=) c.1944G>T (p.Leu648=) c.1776G>T (p.Leu592=) c.2112G>T (p.Leu704=) c.2115G>T (p.Leu705=) c.1839G>T (p.Leu613=) c.2001G>T (p.Leu667=) c.2097G>T (p.Leu699=) n.516G>T c.2058G>T (p.Leu686=) c.1890G>T (p.Leu630=) | |
21 | g.25891764C>G | CA511685978 | APP | n.2136G>C n.566G>C n.835G>C c.2169G>C (p.Leu723=) c.1944G>C (p.Leu648=) c.1776G>C (p.Leu592=) c.2112G>C (p.Leu704=) c.2115G>C (p.Leu705=) c.1839G>C (p.Leu613=) c.2001G>C (p.Leu667=) c.2097G>C (p.Leu699=) n.516G>C c.2058G>C (p.Leu686=) c.1890G>C (p.Leu630=) | gnomAD v4 |
21 | g.25891764C>T | CA511685979 | APP | n.2136G>A n.566G>A n.835G>A c.2169G>A (p.Leu723=) c.1944G>A (p.Leu648=) c.1776G>A (p.Leu592=) c.2112G>A (p.Leu704=) c.2115G>A (p.Leu705=) c.1839G>A (p.Leu613=) c.2001G>A (p.Leu667=) c.2097G>A (p.Leu699=) n.516G>A c.2058G>A (p.Leu686=) c.1890G>A (p.Leu630=) | gnomAD v4 |
21 | g.25891766_25891768del | CA2654122406 | APP | n.2134_2136del n.564_566del n.833_835del c.2167_2169del (p.Leu723del) c.1942_1944del (p.Leu648del) c.1774_1776del (p.Leu592del) c.2110_2112del (p.Leu704del) c.2113_2115del (p.Leu705del) c.1837_1839del (p.Leu613del) c.1999_2001del (p.Leu667del) c.2095_2097del (p.Leu699del) n.514_516del c.2056_2058del (p.Leu686del) c.1888_1890del (p.Leu630del) | gnomAD v4 |
21 | g.25891765A= | CA2383551605 | APP | n.2135T= n.565T= n.834T= c.2168T= (p.Leu723=) c.1943T= (p.Leu648=) c.1775T= (p.Leu592=) c.2111T= (p.Leu704=) c.2114T= (p.Leu705=) c.1838T= (p.Leu613=) c.2000T= (p.Leu667=) c.2096T= (p.Leu699=) n.515T= c.2057T= (p.Leu686=) c.1889T= (p.Leu630=) | |
21 | g.25891765A>C | CA409805511 | APP | n.2135T>G n.565T>G n.834T>G c.2168T>G (p.Leu723Arg) c.1943T>G (p.Leu648Arg) c.1775T>G (p.Leu592Arg) c.2111T>G (p.Leu704Arg) c.2114T>G (p.Leu705Arg) c.1838T>G (p.Leu613Arg) c.2000T>G (p.Leu667Arg) c.2096T>G (p.Leu699Arg) n.515T>G c.2057T>G (p.Leu686Arg) c.1889T>G (p.Leu630Arg) | |
21 | g.25891765A>G | CA225513 | APP | n.2135T>C n.565T>C n.834T>C c.2168T>C (p.Leu723Pro) c.1943T>C (p.Leu648Pro) c.1775T>C (p.Leu592Pro) c.2111T>C (p.Leu704Pro) c.2114T>C (p.Leu705Pro) c.1838T>C (p.Leu613Pro) c.2000T>C (p.Leu667Pro) c.2096T>C (p.Leu699Pro) n.515T>C c.2057T>C (p.Leu686Pro) c.1889T>C (p.Leu630Pro) | ClinVar dbSNP gnomAD v4 |
21 | g.25891765A>T | CA409805512 | APP | n.2135T>A n.565T>A n.834T>A c.2168T>A (p.Leu723Gln) c.1943T>A (p.Leu648Gln) c.1775T>A (p.Leu592Gln) c.2111T>A (p.Leu704Gln) c.2114T>A (p.Leu705Gln) c.1838T>A (p.Leu613Gln) c.2000T>A (p.Leu667Gln) c.2096T>A (p.Leu699Gln) n.515T>A c.2057T>A (p.Leu686Gln) c.1889T>A (p.Leu630Gln) | |
21 | g.25891766G>A | CA511685980 | APP | n.2134C>T n.564C>T n.833C>T c.2167C>T (p.Leu723=) c.1942C>T (p.Leu648=) c.1774C>T (p.Leu592=) c.2110C>T (p.Leu704=) c.2113C>T (p.Leu705=) c.1837C>T (p.Leu613=) c.1999C>T (p.Leu667=) c.2095C>T (p.Leu699=) n.514C>T c.2056C>T (p.Leu686=) c.1888C>T (p.Leu630=) | gnomAD v4 |
21 | g.25891766G>C | CA409805513 | APP | n.2134C>G n.564C>G n.833C>G c.2167C>G (p.Leu723Val) c.1942C>G (p.Leu648Val) c.1774C>G (p.Leu592Val) c.2110C>G (p.Leu704Val) c.2113C>G (p.Leu705Val) c.1837C>G (p.Leu613Val) c.1999C>G (p.Leu667Val) c.2095C>G (p.Leu699Val) n.514C>G c.2056C>G (p.Leu686Val) c.1888C>G (p.Leu630Val) | |
21 | g.25891766G>T | CA409805514 | APP | n.2134C>A n.564C>A n.833C>A c.2167C>A (p.Leu723Met) c.1942C>A (p.Leu648Met) c.1774C>A (p.Leu592Met) c.2110C>A (p.Leu704Met) c.2113C>A (p.Leu705Met) c.1837C>A (p.Leu613Met) c.1999C>A (p.Leu667Met) c.2095C>A (p.Leu699Met) n.514C>A c.2056C>A (p.Leu686Met) c.1888C>A (p.Leu630Met) | |
21 | g.25891767C>A | CA409805515 | APP | n.2133G>T n.563G>T n.832G>T c.2166G>T (p.Met722Ile) c.1941G>T (p.Met647Ile) c.1773G>T (p.Met591Ile) c.2109G>T (p.Met703Ile) c.2112G>T (p.Met704Ile) c.1836G>T (p.Met612Ile) c.1998G>T (p.Met666Ile) c.2094G>T (p.Met698Ile) n.513G>T c.2055G>T (p.Met685Ile) c.1887G>T (p.Met629Ile) | |
21 | g.25891767C>G | CA409805516 | APP | n.2133G>C n.563G>C n.832G>C c.2166G>C (p.Met722Ile) c.1941G>C (p.Met647Ile) c.1773G>C (p.Met591Ile) c.2109G>C (p.Met703Ile) c.2112G>C (p.Met704Ile) c.1836G>C (p.Met612Ile) c.1998G>C (p.Met666Ile) c.2094G>C (p.Met698Ile) n.513G>C c.2055G>C (p.Met685Ile) c.1887G>C (p.Met629Ile) | |
21 | g.25891767C>T | CA409805517 | APP | n.2133G>A n.563G>A n.832G>A c.2166G>A (p.Met722Ile) c.1941G>A (p.Met647Ile) c.1773G>A (p.Met591Ile) c.2109G>A (p.Met703Ile) c.2112G>A (p.Met704Ile) c.1836G>A (p.Met612Ile) c.1998G>A (p.Met666Ile) c.2094G>A (p.Met698Ile) n.513G>A c.2055G>A (p.Met685Ile) c.1887G>A (p.Met629Ile) | |
21 | g.25891768A>C | CA409805520 | APP | n.2132T>G n.562T>G n.831T>G c.2165T>G (p.Met722Arg) c.1940T>G (p.Met647Arg) c.1772T>G (p.Met591Arg) c.2108T>G (p.Met703Arg) c.2111T>G (p.Met704Arg) c.1835T>G (p.Met612Arg) c.1997T>G (p.Met666Arg) c.2093T>G (p.Met698Arg) n.512T>G c.2054T>G (p.Met685Arg) c.1886T>G (p.Met629Arg) | gnomAD v4 |
21 | g.25891768A>G | CA409805518 | APP | n.2132T>C n.562T>C n.831T>C c.2165T>C (p.Met722Thr) c.1940T>C (p.Met647Thr) c.1772T>C (p.Met591Thr) c.2108T>C (p.Met703Thr) c.2111T>C (p.Met704Thr) c.1835T>C (p.Met612Thr) c.1997T>C (p.Met666Thr) c.2093T>C (p.Met698Thr) n.512T>C c.2054T>C (p.Met685Thr) c.1886T>C (p.Met629Thr) | |
21 | g.25891768A>T | CA409805519 | APP | n.2132T>A n.562T>A n.831T>A c.2165T>A (p.Met722Lys) c.1940T>A (p.Met647Lys) c.1772T>A (p.Met591Lys) c.2108T>A (p.Met703Lys) c.2111T>A (p.Met704Lys) c.1835T>A (p.Met612Lys) c.1997T>A (p.Met666Lys) c.2093T>A (p.Met698Lys) n.512T>A c.2054T>A (p.Met685Lys) c.1886T>A (p.Met629Lys) | |
21 | g.25891769T>A | CA409805521 | APP | n.2131A>T n.561A>T n.830A>T c.2164A>T (p.Met722Leu) c.1939A>T (p.Met647Leu) c.1771A>T (p.Met591Leu) c.2107A>T (p.Met703Leu) c.2110A>T (p.Met704Leu) c.1834A>T (p.Met612Leu) c.1996A>T (p.Met666Leu) c.2092A>T (p.Met698Leu) n.511A>T c.2053A>T (p.Met685Leu) c.1885A>T (p.Met629Leu) | |
21 | g.25891769T>C | CA409805522 | APP | n.2131A>G n.561A>G n.830A>G c.2164A>G (p.Met722Val) c.1939A>G (p.Met647Val) c.1771A>G (p.Met591Val) c.2107A>G (p.Met703Val) c.2110A>G (p.Met704Val) c.1834A>G (p.Met612Val) c.1996A>G (p.Met666Val) c.2092A>G (p.Met698Val) n.511A>G c.2053A>G (p.Met685Val) c.1885A>G (p.Met629Val) | |
21 | g.25891769T>G | CA409805523 | APP | n.2131A>C n.561A>C n.830A>C c.2164A>C (p.Met722Leu) c.1939A>C (p.Met647Leu) c.1771A>C (p.Met591Leu) c.2107A>C (p.Met703Leu) c.2110A>C (p.Met704Leu) c.1834A>C (p.Met612Leu) c.1996A>C (p.Met666Leu) c.2092A>C (p.Met698Leu) n.511A>C c.2053A>C (p.Met685Leu) c.1885A>C (p.Met629Leu) | |
21 | g.25891770C>A | CA511685983 | APP | n.2130G>T n.560G>T n.829G>T c.2163G>T (p.Val721=) c.1938G>T (p.Val646=) c.1770G>T (p.Val590=) c.2106G>T (p.Val702=) c.2109G>T (p.Val703=) c.1833G>T (p.Val611=) c.1995G>T (p.Val665=) c.2091G>T (p.Val697=) n.510G>T c.2052G>T (p.Val684=) c.1884G>T (p.Val628=) | |
21 | g.25891770C>G | CA511685982 | APP | n.2130G>C n.560G>C n.829G>C c.2163G>C (p.Val721=) c.1938G>C (p.Val646=) c.1770G>C (p.Val590=) c.2106G>C (p.Val702=) c.2109G>C (p.Val703=) c.1833G>C (p.Val611=) c.1995G>C (p.Val665=) c.2091G>C (p.Val697=) n.510G>C c.2052G>C (p.Val684=) c.1884G>C (p.Val628=) | |
21 | g.25891770C>T | CA511685984 | APP | n.2130G>A n.560G>A n.829G>A c.2163G>A (p.Val721=) c.1938G>A (p.Val646=) c.1770G>A (p.Val590=) c.2106G>A (p.Val702=) c.2109G>A (p.Val703=) c.1833G>A (p.Val611=) c.1995G>A (p.Val665=) c.2091G>A (p.Val697=) n.510G>A c.2052G>A (p.Val684=) c.1884G>A (p.Val628=) | |
21 | g.25891771A>C | CA409805524 | APP | n.2129T>G n.559T>G n.828T>G c.2162T>G (p.Val721Gly) c.1937T>G (p.Val646Gly) c.1769T>G (p.Val590Gly) c.2105T>G (p.Val702Gly) c.2108T>G (p.Val703Gly) c.1832T>G (p.Val611Gly) c.1994T>G (p.Val665Gly) c.2090T>G (p.Val697Gly) n.509T>G c.2051T>G (p.Val684Gly) c.1883T>G (p.Val628Gly) | |
21 | g.25891771A>G | CA409805525 | APP | n.2129T>C n.559T>C n.828T>C c.2162T>C (p.Val721Ala) c.1937T>C (p.Val646Ala) c.1769T>C (p.Val590Ala) c.2105T>C (p.Val702Ala) c.2108T>C (p.Val703Ala) c.1832T>C (p.Val611Ala) c.1994T>C (p.Val665Ala) c.2090T>C (p.Val697Ala) n.509T>C c.2051T>C (p.Val684Ala) c.1883T>C (p.Val628Ala) | |
21 | g.25891771A>T | CA409805526 | APP | n.2129T>A n.559T>A n.828T>A c.2162T>A (p.Val721Glu) c.1937T>A (p.Val646Glu) c.1769T>A (p.Val590Glu) c.2105T>A (p.Val702Glu) c.2108T>A (p.Val703Glu) c.1832T>A (p.Val611Glu) c.1994T>A (p.Val665Glu) c.2090T>A (p.Val697Glu) n.509T>A c.2051T>A (p.Val684Glu) c.1883T>A (p.Val628Glu) | |
21 | g.25891772C>A | CA409805527 | APP | n.2128G>T n.558G>T n.827G>T c.2161G>T (p.Val721Leu) c.1936G>T (p.Val646Leu) c.1768G>T (p.Val590Leu) c.2104G>T (p.Val702Leu) c.2107G>T (p.Val703Leu) c.1831G>T (p.Val611Leu) c.1993G>T (p.Val665Leu) c.2089G>T (p.Val697Leu) n.508G>T c.2050G>T (p.Val684Leu) c.1882G>T (p.Val628Leu) | |
21 | g.25891772C= | CA2383551606 | APP | n.2128G= n.558G= n.827G= c.2161G= (p.Val721=) c.1936G= (p.Val646=) c.1768G= (p.Val590=) c.2104G= (p.Val702=) c.2107G= (p.Val703=) c.1831G= (p.Val611=) c.1993G= (p.Val665=) c.2089G= (p.Val697=) n.508G= c.2050G= (p.Val684=) c.1882G= (p.Val628=) | |
21 | g.25891772C>G | CA409805528 | APP | n.2128G>C n.558G>C n.827G>C c.2161G>C (p.Val721Leu) c.1936G>C (p.Val646Leu) c.1768G>C (p.Val590Leu) c.2104G>C (p.Val702Leu) c.2107G>C (p.Val703Leu) c.1831G>C (p.Val611Leu) c.1993G>C (p.Val665Leu) c.2089G>C (p.Val697Leu) n.508G>C c.2050G>C (p.Val684Leu) c.1882G>C (p.Val628Leu) | |
21 | g.25891772C>T | CA409805529 | APP | n.2128G>A n.558G>A n.827G>A c.2161G>A (p.Val721Met) c.1936G>A (p.Val646Met) c.1768G>A (p.Val590Met) c.2104G>A (p.Val702Met) c.2107G>A (p.Val703Met) c.1831G>A (p.Val611Met) c.1993G>A (p.Val665Met) c.2089G>A (p.Val697Met) n.508G>A c.2050G>A (p.Val684Met) c.1882G>A (p.Val628Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.25891773C>A | CA409805530 | APP | n.2127G>T n.557G>T n.826G>T c.2160G>T (p.Leu720Phe) c.1935G>T (p.Leu645Phe) c.1767G>T (p.Leu589Phe) c.2103G>T (p.Leu701Phe) c.2106G>T (p.Leu702Phe) c.1830G>T (p.Leu610Phe) c.1992G>T (p.Leu664Phe) c.2088G>T (p.Leu696Phe) n.507G>T c.2049G>T (p.Leu683Phe) c.1881G>T (p.Leu627Phe) | |
21 | g.25891773C>G | CA409805531 | APP | n.2127G>C n.557G>C n.826G>C c.2160G>C (p.Leu720Phe) c.1935G>C (p.Leu645Phe) c.1767G>C (p.Leu589Phe) c.2103G>C (p.Leu701Phe) c.2106G>C (p.Leu702Phe) c.1830G>C (p.Leu610Phe) c.1992G>C (p.Leu664Phe) c.2088G>C (p.Leu696Phe) n.507G>C c.2049G>C (p.Leu683Phe) c.1881G>C (p.Leu627Phe) | |
21 | g.25891773C>T | CA511685985 | APP | n.2127G>A n.557G>A n.826G>A c.2160G>A (p.Leu720=) c.1935G>A (p.Leu645=) c.1767G>A (p.Leu589=) c.2103G>A (p.Leu701=) c.2106G>A (p.Leu702=) c.1830G>A (p.Leu610=) c.1992G>A (p.Leu664=) c.2088G>A (p.Leu696=) n.507G>A c.2049G>A (p.Leu683=) c.1881G>A (p.Leu627=) | |
21 | g.25891774A>C | CA409805533 | APP | n.2126T>G n.556T>G n.825T>G c.2159T>G (p.Leu720Trp) c.1934T>G (p.Leu645Trp) c.1766T>G (p.Leu589Trp) c.2102T>G (p.Leu701Trp) c.2105T>G (p.Leu702Trp) c.1829T>G (p.Leu610Trp) c.1991T>G (p.Leu664Trp) c.2087T>G (p.Leu696Trp) n.506T>G c.2048T>G (p.Leu683Trp) c.1880T>G (p.Leu627Trp) | |
21 | g.25891774A>G | CA409805534 | APP | n.2126T>C n.556T>C n.825T>C c.2159T>C (p.Leu720Ser) c.1934T>C (p.Leu645Ser) c.1766T>C (p.Leu589Ser) c.2102T>C (p.Leu701Ser) c.2105T>C (p.Leu702Ser) c.1829T>C (p.Leu610Ser) c.1991T>C (p.Leu664Ser) c.2087T>C (p.Leu696Ser) n.506T>C c.2048T>C (p.Leu683Ser) c.1880T>C (p.Leu627Ser) | |
21 | g.25891774A>T | CA409805532 | APP | n.2126T>A n.556T>A n.825T>A c.2159T>A (p.Leu720Ter) c.1934T>A (p.Leu645Ter) c.1766T>A (p.Leu589Ter) c.2102T>A (p.Leu701Ter) c.2105T>A (p.Leu702Ter) c.1829T>A (p.Leu610Ter) c.1991T>A (p.Leu664Ter) c.2087T>A (p.Leu696Ter) n.506T>A c.2048T>A (p.Leu683Ter) c.1880T>A (p.Leu627Ter) | gnomAD v4 |
21 | g.25891775A>C | CA409805535 | APP | n.2125T>G n.555T>G n.824T>G c.2158T>G (p.Leu720Val) c.1933T>G (p.Leu645Val) c.1765T>G (p.Leu589Val) c.2101T>G (p.Leu701Val) c.2104T>G (p.Leu702Val) c.1828T>G (p.Leu610Val) c.1990T>G (p.Leu664Val) c.2086T>G (p.Leu696Val) n.505T>G c.2047T>G (p.Leu683Val) c.1879T>G (p.Leu627Val) | |
21 | g.25891775A>G | CA511685986 | APP | n.2125T>C n.555T>C n.824T>C c.2158T>C (p.Leu720=) c.1933T>C (p.Leu645=) c.1765T>C (p.Leu589=) c.2101T>C (p.Leu701=) c.2104T>C (p.Leu702=) c.1828T>C (p.Leu610=) c.1990T>C (p.Leu664=) c.2086T>C (p.Leu696=) n.505T>C c.2047T>C (p.Leu683=) c.1879T>C (p.Leu627=) | |
21 | g.25891775A>T | CA409805536 | APP | n.2125T>A n.555T>A n.824T>A c.2158T>A (p.Leu720Met) c.1933T>A (p.Leu645Met) c.1765T>A (p.Leu589Met) c.2101T>A (p.Leu701Met) c.2104T>A (p.Leu702Met) c.1828T>A (p.Leu610Met) c.1990T>A (p.Leu664Met) c.2086T>A (p.Leu696Met) n.505T>A c.2047T>A (p.Leu683Met) c.1879T>A (p.Leu627Met) | gnomAD v4 |
21 | g.25891776G>A | CA511685987 | APP | n.2124C>T n.554C>T n.823C>T c.2157C>T (p.Thr719=) c.1932C>T (p.Thr644=) c.1764C>T (p.Thr588=) c.2100C>T (p.Thr700=) c.2103C>T (p.Thr701=) c.1827C>T (p.Thr609=) c.1989C>T (p.Thr663=) c.2085C>T (p.Thr695=) n.504C>T c.2046C>T (p.Thr682=) c.1878C>T (p.Thr626=) | gnomAD v4 |
21 | g.25891776G>C | CA511685988 | APP | n.2124C>G n.554C>G n.823C>G c.2157C>G (p.Thr719=) c.1932C>G (p.Thr644=) c.1764C>G (p.Thr588=) c.2100C>G (p.Thr700=) c.2103C>G (p.Thr701=) c.1827C>G (p.Thr609=) c.1989C>G (p.Thr663=) c.2085C>G (p.Thr695=) n.504C>G c.2046C>G (p.Thr682=) c.1878C>G (p.Thr626=) | |
21 | g.25891776G>T | CA511685989 | APP | n.2124C>A n.554C>A n.823C>A c.2157C>A (p.Thr719=) c.1932C>A (p.Thr644=) c.1764C>A (p.Thr588=) c.2100C>A (p.Thr700=) c.2103C>A (p.Thr701=) c.1827C>A (p.Thr609=) c.1989C>A (p.Thr663=) c.2085C>A (p.Thr695=) n.504C>A c.2046C>A (p.Thr682=) c.1878C>A (p.Thr626=) | |
21 | g.25891777G>A | CA409805537 | APP | n.2123C>T n.553C>T n.822C>T c.2156C>T (p.Thr719Ile) c.1931C>T (p.Thr644Ile) c.1763C>T (p.Thr588Ile) c.2099C>T (p.Thr700Ile) c.2102C>T (p.Thr701Ile) c.1826C>T (p.Thr609Ile) c.1988C>T (p.Thr663Ile) c.2084C>T (p.Thr695Ile) n.503C>T c.2045C>T (p.Thr682Ile) c.1877C>T (p.Thr626Ile) | dbSNP |
21 | g.25891777G>C | CA409805538 | APP | n.2123C>G n.553C>G n.822C>G c.2156C>G (p.Thr719Ser) c.1931C>G (p.Thr644Ser) c.1763C>G (p.Thr588Ser) c.2099C>G (p.Thr700Ser) c.2102C>G (p.Thr701Ser) c.1826C>G (p.Thr609Ser) c.1988C>G (p.Thr663Ser) c.2084C>G (p.Thr695Ser) n.503C>G c.2045C>G (p.Thr682Ser) c.1877C>G (p.Thr626Ser) | |
21 | g.25891777G= | CA2383551607 | APP | n.2123C= n.553C= n.822C= c.2156C= (p.Thr719=) c.1931C= (p.Thr644=) c.1763C= (p.Thr588=) c.2099C= (p.Thr700=) c.2102C= (p.Thr701=) c.1826C= (p.Thr609=) c.1988C= (p.Thr663=) c.2084C= (p.Thr695=) n.503C= c.2045C= (p.Thr682=) c.1877C= (p.Thr626=) | |
21 | g.25891777G>T | CA409805539 | APP | n.2123C>A n.553C>A n.822C>A c.2156C>A (p.Thr719Asn) c.1931C>A (p.Thr644Asn) c.1763C>A (p.Thr588Asn) c.2099C>A (p.Thr700Asn) c.2102C>A (p.Thr701Asn) c.1826C>A (p.Thr609Asn) c.1988C>A (p.Thr663Asn) c.2084C>A (p.Thr695Asn) n.503C>A c.2045C>A (p.Thr682Asn) c.1877C>A (p.Thr626Asn) | |
21 | g.25891778T>A | CA409805540 | APP | n.2122A>T n.552A>T n.821A>T c.2155A>T (p.Thr719Ser) c.1930A>T (p.Thr644Ser) c.1762A>T (p.Thr588Ser) c.2098A>T (p.Thr700Ser) c.2101A>T (p.Thr701Ser) c.1825A>T (p.Thr609Ser) c.1987A>T (p.Thr663Ser) c.2083A>T (p.Thr695Ser) n.502A>T c.2044A>T (p.Thr682Ser) c.1876A>T (p.Thr626Ser) | |
21 | g.25891778T>C | CA409805541 | APP | n.2122A>G n.552A>G n.821A>G c.2155A>G (p.Thr719Ala) c.1930A>G (p.Thr644Ala) c.1762A>G (p.Thr588Ala) c.2098A>G (p.Thr700Ala) c.2101A>G (p.Thr701Ala) c.1825A>G (p.Thr609Ala) c.1987A>G (p.Thr663Ala) c.2083A>G (p.Thr695Ala) n.502A>G c.2044A>G (p.Thr682Ala) c.1876A>G (p.Thr626Ala) | |
21 | g.25891778T>G | CA409805542 | APP | n.2122A>C n.552A>C n.821A>C c.2155A>C (p.Thr719Pro) c.1930A>C (p.Thr644Pro) c.1762A>C (p.Thr588Pro) c.2098A>C (p.Thr700Pro) c.2101A>C (p.Thr701Pro) c.1825A>C (p.Thr609Pro) c.1987A>C (p.Thr663Pro) c.2083A>C (p.Thr695Pro) n.502A>C c.2044A>C (p.Thr682Pro) c.1876A>C (p.Thr626Pro) | ClinVar dbSNP |
21 | g.25891779G>A | CA511685992 | APP | n.2121C>T n.551C>T n.820C>T c.2154C>T (p.Ile718=) c.1929C>T (p.Ile643=) c.1761C>T (p.Ile587=) c.2097C>T (p.Ile699=) c.2100C>T (p.Ile700=) c.1824C>T (p.Ile608=) c.1986C>T (p.Ile662=) c.2082C>T (p.Ile694=) n.501C>T c.2043C>T (p.Ile681=) c.1875C>T (p.Ile625=) | |
21 | g.25891779G>C | CA409805543 | APP | n.2121C>G n.551C>G n.820C>G c.2154C>G (p.Ile718Met) c.1929C>G (p.Ile643Met) c.1761C>G (p.Ile587Met) c.2097C>G (p.Ile699Met) c.2100C>G (p.Ile700Met) c.1824C>G (p.Ile608Met) c.1986C>G (p.Ile662Met) c.2082C>G (p.Ile694Met) n.501C>G c.2043C>G (p.Ile681Met) c.1875C>G (p.Ile625Met) | |
21 | g.25891779G>T | CA511685991 | APP | n.2121C>A n.551C>A n.820C>A c.2154C>A (p.Ile718=) c.1929C>A (p.Ile643=) c.1761C>A (p.Ile587=) c.2097C>A (p.Ile699=) c.2100C>A (p.Ile700=) c.1824C>A (p.Ile608=) c.1986C>A (p.Ile662=) c.2082C>A (p.Ile694=) n.501C>A c.2043C>A (p.Ile681=) c.1875C>A (p.Ile625=) | |
21 | g.25891780A>C | CA409805544 | APP | n.2120T>G n.550T>G n.819T>G c.2153T>G (p.Ile718Ser) c.1928T>G (p.Ile643Ser) c.1760T>G (p.Ile587Ser) c.2096T>G (p.Ile699Ser) c.2099T>G (p.Ile700Ser) c.1823T>G (p.Ile608Ser) c.1985T>G (p.Ile662Ser) c.2081T>G (p.Ile694Ser) n.500T>G c.2042T>G (p.Ile681Ser) c.1874T>G (p.Ile625Ser) | |
21 | g.25891780A>G | CA409805545 | APP | n.2120T>C n.550T>C n.819T>C c.2153T>C (p.Ile718Thr) c.1928T>C (p.Ile643Thr) c.1760T>C (p.Ile587Thr) c.2096T>C (p.Ile699Thr) c.2099T>C (p.Ile700Thr) c.1823T>C (p.Ile608Thr) c.1985T>C (p.Ile662Thr) c.2081T>C (p.Ile694Thr) n.500T>C c.2042T>C (p.Ile681Thr) c.1874T>C (p.Ile625Thr) | |
21 | g.25891780A>T | CA409805546 | APP | n.2120T>A n.550T>A n.819T>A c.2153T>A (p.Ile718Asn) c.1928T>A (p.Ile643Asn) c.1760T>A (p.Ile587Asn) c.2096T>A (p.Ile699Asn) c.2099T>A (p.Ile700Asn) c.1823T>A (p.Ile608Asn) c.1985T>A (p.Ile662Asn) c.2081T>A (p.Ile694Asn) n.500T>A c.2042T>A (p.Ile681Asn) c.1874T>A (p.Ile625Asn) | |
21 | g.25891781T>A | CA409805548 | APP | n.2119A>T n.549A>T n.818A>T c.2152A>T (p.Ile718Phe) c.1927A>T (p.Ile643Phe) c.1759A>T (p.Ile587Phe) c.2095A>T (p.Ile699Phe) c.2098A>T (p.Ile700Phe) c.1822A>T (p.Ile608Phe) c.1984A>T (p.Ile662Phe) c.2080A>T (p.Ile694Phe) n.499A>T c.2041A>T (p.Ile681Phe) c.1873A>T (p.Ile625Phe) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.25891781T>C | CA409805549 | APP | n.2119A>G n.549A>G n.818A>G c.2152A>G (p.Ile718Val) c.1927A>G (p.Ile643Val) c.1759A>G (p.Ile587Val) c.2095A>G (p.Ile699Val) c.2098A>G (p.Ile700Val) c.1822A>G (p.Ile608Val) c.1984A>G (p.Ile662Val) c.2080A>G (p.Ile694Val) n.499A>G c.2041A>G (p.Ile681Val) c.1873A>G (p.Ile625Val) | dbSNP gnomAD v4 |
21 | g.25891781T>G | CA409805547 | APP | n.2119A>C n.549A>C n.818A>C c.2152A>C (p.Ile718Leu) c.1927A>C (p.Ile643Leu) c.1759A>C (p.Ile587Leu) c.2095A>C (p.Ile699Leu) c.2098A>C (p.Ile700Leu) c.1822A>C (p.Ile608Leu) c.1984A>C (p.Ile662Leu) c.2080A>C (p.Ile694Leu) n.499A>C c.2041A>C (p.Ile681Leu) c.1873A>C (p.Ile625Leu) | |
21 | g.25891781T= | CA2383551608 | APP | n.2119A= n.549A= n.818A= c.2152A= (p.Ile718=) c.1927A= (p.Ile643=) c.1759A= (p.Ile587=) c.2095A= (p.Ile699=) c.2098A= (p.Ile700=) c.1822A= (p.Ile608=) c.1984A= (p.Ile662=) c.2080A= (p.Ile694=) n.499A= c.2041A= (p.Ile681=) c.1873A= (p.Ile625=) | |
21 | g.25891782_25891783insCTG | CA2830561775 | APP | n.2119_2120insGCA n.549_550insGCA n.818_819insGCA c.2152_2153insGCA (p.Val717_Ile718insSer) c.1927_1928insGCA (p.Val642_Ile643insSer) c.1759_1760insGCA (p.Val586_Ile587insSer) c.2095_2096insGCA (p.Val698_Ile699insSer) c.2098_2099insGCA (p.Val699_Ile700insSer) c.1822_1823insGCA (p.Val607_Ile608insSer) c.1984_1985insGCA (p.Val661_Ile662insSer) c.2080_2081insGCA (p.Val693_Ile694insSer) n.499_500insGCA c.2041_2042insGCA (p.Val680_Ile681insSer) c.1873_1874insGCA (p.Val624_Ile625insSer) | |
21 | g.25891782G>A | CA511685995 | APP | n.2118C>T n.548C>T n.817C>T c.2151C>T (p.Val717=) c.1926C>T (p.Val642=) c.1758C>T (p.Val586=) c.2094C>T (p.Val698=) c.2097C>T (p.Val699=) c.1821C>T (p.Val607=) c.1983C>T (p.Val661=) c.2079C>T (p.Val693=) n.498C>T c.2040C>T (p.Val680=) c.1872C>T (p.Val624=) | |
21 | g.25891782G>C | CA511685993 | APP | n.2118C>G n.548C>G n.817C>G c.2151C>G (p.Val717=) c.1926C>G (p.Val642=) c.1758C>G (p.Val586=) c.2094C>G (p.Val698=) c.2097C>G (p.Val699=) c.1821C>G (p.Val607=) c.1983C>G (p.Val661=) c.2079C>G (p.Val693=) n.498C>G c.2040C>G (p.Val680=) c.1872C>G (p.Val624=) | |
21 | g.25891782G= | CA2383551609 | APP | n.2118C= n.548C= n.817C= c.2151C= (p.Val717=) c.1926C= (p.Val642=) c.1758C= (p.Val586=) c.2094C= (p.Val698=) c.2097C= (p.Val699=) c.1821C= (p.Val607=) c.1983C= (p.Val661=) c.2079C= (p.Val693=) n.498C= c.2040C= (p.Val680=) c.1872C= (p.Val624=) | |
21 | g.25891782G>T | CA511685994 | APP | n.2118C>A n.548C>A n.817C>A c.2151C>A (p.Val717=) c.1926C>A (p.Val642=) c.1758C>A (p.Val586=) c.2094C>A (p.Val698=) c.2097C>A (p.Val699=) c.1821C>A (p.Val607=) c.1983C>A (p.Val661=) c.2079C>A (p.Val693=) n.498C>A c.2040C>A (p.Val680=) c.1872C>A (p.Val624=) | dbSNP gnomAD v4 |
21 | g.25891784_25891786del | CA2817564437 | APP | n.2116_2118del n.546_548del n.815_817del c.2149_2151del (p.Val717del) c.1924_1926del (p.Val642del) c.1756_1758del (p.Val586del) c.2092_2094del (p.Val698del) c.2095_2097del (p.Val699del) c.1819_1821del (p.Val607del) c.1981_1983del (p.Val661del) c.2077_2079del (p.Val693del) n.496_498del c.2038_2040del (p.Val680del) c.1870_1872del (p.Val624del) | |
21 | g.25891783A= | CA2383551610 | APP | n.2117T= n.547T= n.816T= c.2150T= (p.Val717=) c.1925T= (p.Val642=) c.1757T= (p.Val586=) c.2093T= (p.Val698=) c.2096T= (p.Val699=) c.1820T= (p.Val607=) c.1982T= (p.Val661=) c.2078T= (p.Val693=) n.497T= c.2039T= (p.Val680=) c.1871T= (p.Val624=) | |
21 | g.25891783A>C | CA127793 | APP | n.2117T>G n.547T>G n.816T>G c.2150T>G (p.Val717Gly) c.1925T>G (p.Val642Gly) c.1757T>G (p.Val586Gly) c.2093T>G (p.Val698Gly) c.2096T>G (p.Val699Gly) c.1820T>G (p.Val607Gly) c.1982T>G (p.Val661Gly) c.2078T>G (p.Val693Gly) n.497T>G c.2039T>G (p.Val680Gly) c.1871T>G (p.Val624Gly) | ClinVar dbSNP |
21 | g.25891783A>G | CA409805550 | APP | n.2117T>C n.547T>C n.816T>C c.2150T>C (p.Val717Ala) c.1925T>C (p.Val642Ala) c.1757T>C (p.Val586Ala) c.2093T>C (p.Val698Ala) c.2096T>C (p.Val699Ala) c.1820T>C (p.Val607Ala) c.1982T>C (p.Val661Ala) c.2078T>C (p.Val693Ala) n.497T>C c.2039T>C (p.Val680Ala) c.1871T>C (p.Val624Ala) | |
21 | g.25891783A>T | CA409805551 | APP | n.2117T>A n.547T>A n.816T>A c.2150T>A (p.Val717Asp) c.1925T>A (p.Val642Asp) c.1757T>A (p.Val586Asp) c.2093T>A (p.Val698Asp) c.2096T>A (p.Val699Asp) c.1820T>A (p.Val607Asp) c.1982T>A (p.Val661Asp) c.2078T>A (p.Val693Asp) n.497T>A c.2039T>A (p.Val680Asp) c.1871T>A (p.Val624Asp) | |
21 | g.25891784C>A | CA127792 | APP | n.2116G>T n.546G>T n.815G>T c.2149G>T (p.Val717Phe) c.1924G>T (p.Val642Phe) c.1756G>T (p.Val586Phe) c.2092G>T (p.Val698Phe) c.2095G>T (p.Val699Phe) c.1819G>T (p.Val607Phe) c.1981G>T (p.Val661Phe) c.2077G>T (p.Val693Phe) n.496G>T c.2038G>T (p.Val680Phe) c.1870G>T (p.Val624Phe) | ClinVar dbSNP |
21 | g.25891784C= | CA2383551611 | APP | n.2116G= n.546G= n.815G= c.2149G= (p.Val717=) c.1924G= (p.Val642=) c.1756G= (p.Val586=) c.2092G= (p.Val698=) c.2095G= (p.Val699=) c.1819G= (p.Val607=) c.1981G= (p.Val661=) c.2077G= (p.Val693=) n.496G= c.2038G= (p.Val680=) c.1870G= (p.Val624=) | |
21 | g.25891784C>G | CA127816 | APP | n.2116G>C n.546G>C n.815G>C c.2149G>C (p.Val717Leu) c.1924G>C (p.Val642Leu) c.1756G>C (p.Val586Leu) c.2092G>C (p.Val698Leu) c.2095G>C (p.Val699Leu) c.1819G>C (p.Val607Leu) c.1981G>C (p.Val661Leu) c.2077G>C (p.Val693Leu) n.496G>C c.2038G>C (p.Val680Leu) c.1870G>C (p.Val624Leu) | ClinVar dbSNP |
21 | g.25891784C>T | CA127791 | APP | n.2116G>A n.546G>A n.815G>A c.2149G>A (p.Val717Ile) c.1924G>A (p.Val642Ile) c.1756G>A (p.Val586Ile) c.2092G>A (p.Val698Ile) c.2095G>A (p.Val699Ile) c.1819G>A (p.Val607Ile) c.1981G>A (p.Val661Ile) c.2077G>A (p.Val693Ile) n.496G>A c.2038G>A (p.Val680Ile) c.1870G>A (p.Val624Ile) | ClinVar dbSNP gnomAD v4 |
21 | g.25891785G>A | CA9987050 | APP | n.2115C>T n.545C>T n.814C>T c.2148C>T (p.Ile716=) c.1923C>T (p.Ile641=) c.1755C>T (p.Ile585=) c.2091C>T (p.Ile697=) c.2094C>T (p.Ile698=) c.1818C>T (p.Ile606=) c.1980C>T (p.Ile660=) c.2076C>T (p.Ile692=) n.495C>T c.2037C>T (p.Ile679=) c.1869C>T (p.Ile623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.25891785G>C | CA409805552 | APP | n.2115C>G n.545C>G n.814C>G c.2148C>G (p.Ile716Met) c.1923C>G (p.Ile641Met) c.1755C>G (p.Ile585Met) c.2091C>G (p.Ile697Met) c.2094C>G (p.Ile698Met) c.1818C>G (p.Ile606Met) c.1980C>G (p.Ile660Met) c.2076C>G (p.Ile692Met) n.495C>G c.2037C>G (p.Ile679Met) c.1869C>G (p.Ile623Met) | ClinVar dbSNP gnomAD v4 |
21 | g.25891785G= | CA2383551612 | APP | n.2115C= n.545C= n.814C= c.2148C= (p.Ile716=) c.1923C= (p.Ile641=) c.1755C= (p.Ile585=) c.2091C= (p.Ile697=) c.2094C= (p.Ile698=) c.1818C= (p.Ile606=) c.1980C= (p.Ile660=) c.2076C= (p.Ile692=) n.495C= c.2037C= (p.Ile679=) c.1869C= (p.Ile623=) | |
21 | g.25891785G>T | CA9987049 | APP | n.2115C>A n.545C>A n.814C>A c.2148C>A (p.Ile716=) c.1923C>A (p.Ile641=) c.1755C>A (p.Ile585=) c.2091C>A (p.Ile697=) c.2094C>A (p.Ile698=) c.1818C>A (p.Ile606=) c.1980C>A (p.Ile660=) c.2076C>A (p.Ile692=) n.495C>A c.2037C>A (p.Ile679=) c.1869C>A (p.Ile623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.25891786A= | CA2383551613 | APP | n.2114T= n.544T= n.813T= c.2147T= (p.Ile716=) c.1922T= (p.Ile641=) c.1754T= (p.Ile585=) c.2090T= (p.Ile697=) c.2093T= (p.Ile698=) c.1817T= (p.Ile606=) c.1979T= (p.Ile660=) c.2075T= (p.Ile692=) n.494T= c.2036T= (p.Ile679=) c.1868T= (p.Ile623=) | |
21 | g.25891786A>C | CA409805553 | APP | n.2114T>G n.544T>G n.813T>G c.2147T>G (p.Ile716Ser) c.1922T>G (p.Ile641Ser) c.1754T>G (p.Ile585Ser) c.2090T>G (p.Ile697Ser) c.2093T>G (p.Ile698Ser) c.1817T>G (p.Ile606Ser) c.1979T>G (p.Ile660Ser) c.2075T>G (p.Ile692Ser) n.494T>G c.2036T>G (p.Ile679Ser) c.1868T>G (p.Ile623Ser) | |
21 | g.25891786A>G | CA225511 | APP | n.2114T>C n.544T>C n.813T>C c.2147T>C (p.Ile716Thr) c.1922T>C (p.Ile641Thr) c.1754T>C (p.Ile585Thr) c.2090T>C (p.Ile697Thr) c.2093T>C (p.Ile698Thr) c.1817T>C (p.Ile606Thr) c.1979T>C (p.Ile660Thr) c.2075T>C (p.Ile692Thr) n.494T>C c.2036T>C (p.Ile679Thr) c.1868T>C (p.Ile623Thr) | ClinVar dbSNP |
21 | g.25891786A>T | CA409805554 | APP | n.2114T>A n.544T>A n.813T>A c.2147T>A (p.Ile716Asn) c.1922T>A (p.Ile641Asn) c.1754T>A (p.Ile585Asn) c.2090T>A (p.Ile697Asn) c.2093T>A (p.Ile698Asn) c.1817T>A (p.Ile606Asn) c.1979T>A (p.Ile660Asn) c.2075T>A (p.Ile692Asn) n.494T>A c.2036T>A (p.Ile679Asn) c.1868T>A (p.Ile623Asn) | |
21 | g.25891787T>A | CA409805555 | APP | n.2113A>T n.543A>T n.812A>T c.2146A>T (p.Ile716Phe) c.1921A>T (p.Ile641Phe) c.1753A>T (p.Ile585Phe) c.2089A>T (p.Ile697Phe) c.2092A>T (p.Ile698Phe) c.1816A>T (p.Ile606Phe) c.1978A>T (p.Ile660Phe) c.2074A>T (p.Ile692Phe) n.493A>T c.2035A>T (p.Ile679Phe) c.1867A>T (p.Ile623Phe) | ClinVar dbSNP |
21 | g.25891787T>C | CA127799 | APP | n.2113A>G n.543A>G n.812A>G c.2146A>G (p.Ile716Val) c.1921A>G (p.Ile641Val) c.1753A>G (p.Ile585Val) c.2089A>G (p.Ile697Val) c.2092A>G (p.Ile698Val) c.1816A>G (p.Ile606Val) c.1978A>G (p.Ile660Val) c.2074A>G (p.Ile692Val) n.493A>G c.2035A>G (p.Ile679Val) c.1867A>G (p.Ile623Val) | ClinVar dbSNP |
21 | g.25891787T>G | CA409805556 | APP | n.2113A>C n.543A>C n.812A>C c.2146A>C (p.Ile716Leu) c.1921A>C (p.Ile641Leu) c.1753A>C (p.Ile585Leu) c.2089A>C (p.Ile697Leu) c.2092A>C (p.Ile698Leu) c.1816A>C (p.Ile606Leu) c.1978A>C (p.Ile660Leu) c.2074A>C (p.Ile692Leu) n.493A>C c.2035A>C (p.Ile679Leu) c.1867A>C (p.Ile623Leu) | |
21 | g.25891787T= | CA2383551614 | APP | n.2113A= n.543A= n.812A= c.2146A= (p.Ile716=) c.1921A= (p.Ile641=) c.1753A= (p.Ile585=) c.2089A= (p.Ile697=) c.2092A= (p.Ile698=) c.1816A= (p.Ile606=) c.1978A= (p.Ile660=) c.2074A= (p.Ile692=) n.493A= c.2035A= (p.Ile679=) c.1867A= (p.Ile623=) | |
21 | g.25891787_25891788delinsCA | CA2573157339 | APP | n.2112_2113delinsTG n.542_543delinsTG n.811_812delinsTG c.2145_2146delinsTG (p.Ile716Val) c.1920_1921delinsTG (p.Ile641Val) c.1752_1753delinsTG (p.Ile585Val) c.2088_2089delinsTG (p.Ile697Val) c.2091_2092delinsTG (p.Ile698Val) c.1815_1816delinsTG (p.Ile606Val) c.1977_1978delinsTG (p.Ile660Val) c.2073_2074delinsTG (p.Ile692Val) n.492_493delinsTG c.2034_2035delinsTG (p.Ile679Val) c.1866_1867delinsTG (p.Ile623Val) | ClinVar dbSNP |
21 | g.25891788C>A | CA511685997 | APP | n.2112G>T n.542G>T n.811G>T c.2145G>T (p.Val715=) c.1920G>T (p.Val640=) c.1752G>T (p.Val584=) c.2088G>T (p.Val696=) c.2091G>T (p.Val697=) c.1815G>T (p.Val605=) c.1977G>T (p.Val659=) c.2073G>T (p.Val691=) n.492G>T c.2034G>T (p.Val678=) c.1866G>T (p.Val622=) | |
21 | g.25891788C= | CA2383551615 | APP | n.2112G= n.542G= n.811G= c.2145G= (p.Val715=) c.1920G= (p.Val640=) c.1752G= (p.Val584=) c.2088G= (p.Val696=) c.2091G= (p.Val697=) c.1815G= (p.Val605=) c.1977G= (p.Val659=) c.2073G= (p.Val691=) n.492G= c.2034G= (p.Val678=) c.1866G= (p.Val622=) | |
21 | g.25891788C>G | CA511685996 | APP | n.2112G>C n.542G>C n.811G>C c.2145G>C (p.Val715=) c.1920G>C (p.Val640=) c.1752G>C (p.Val584=) c.2088G>C (p.Val696=) c.2091G>C (p.Val697=) c.1815G>C (p.Val605=) c.1977G>C (p.Val659=) c.2073G>C (p.Val691=) n.492G>C c.2034G>C (p.Val678=) c.1866G>C (p.Val622=) | |
21 | g.25891788C>T | CA225509 | APP | n.2112G>A n.542G>A n.811G>A c.2145G>A (p.Val715=) c.1920G>A (p.Val640=) c.1752G>A (p.Val584=) c.2088G>A (p.Val696=) c.2091G>A (p.Val697=) c.1815G>A (p.Val605=) c.1977G>A (p.Val659=) c.2073G>A (p.Val691=) n.492G>A c.2034G>A (p.Val678=) c.1866G>A (p.Val622=) | ClinVar dbSNP |
21 | g.25891789A= | CA2383551616 | APP | n.2111T= n.541T= n.810T= c.2144T= (p.Val715=) c.1919T= (p.Val640=) c.1751T= (p.Val584=) c.2087T= (p.Val696=) c.2090T= (p.Val697=) c.1814T= (p.Val605=) c.1976T= (p.Val659=) c.2072T= (p.Val691=) n.491T= c.2033T= (p.Val678=) c.1865T= (p.Val622=) | |
21 | g.25891789A>C | CA409805557 | APP | n.2111T>G n.541T>G n.810T>G c.2144T>G (p.Val715Gly) c.1919T>G (p.Val640Gly) c.1751T>G (p.Val584Gly) c.2087T>G (p.Val696Gly) c.2090T>G (p.Val697Gly) c.1814T>G (p.Val605Gly) c.1976T>G (p.Val659Gly) c.2072T>G (p.Val691Gly) n.491T>G c.2033T>G (p.Val678Gly) c.1865T>G (p.Val622Gly) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.25891789A>G | CA225507 | APP | n.2111T>C n.541T>C n.810T>C c.2144T>C (p.Val715Ala) c.1919T>C (p.Val640Ala) c.1751T>C (p.Val584Ala) c.2087T>C (p.Val696Ala) c.2090T>C (p.Val697Ala) c.1814T>C (p.Val605Ala) c.1976T>C (p.Val659Ala) c.2072T>C (p.Val691Ala) n.491T>C c.2033T>C (p.Val678Ala) c.1865T>C (p.Val622Ala) | ClinVar dbSNP |
21 | g.25891789A>T | CA409805558 | APP | n.2111T>A n.541T>A n.810T>A c.2144T>A (p.Val715Glu) c.1919T>A (p.Val640Glu) c.1751T>A (p.Val584Glu) c.2087T>A (p.Val696Glu) c.2090T>A (p.Val697Glu) c.1814T>A (p.Val605Glu) c.1976T>A (p.Val659Glu) c.2072T>A (p.Val691Glu) n.491T>A c.2033T>A (p.Val678Glu) c.1865T>A (p.Val622Glu) | |
21 | g.25891790C>A | CA409805559 | APP | n.2110G>T n.540G>T n.809G>T c.2143G>T (p.Val715Leu) c.1918G>T (p.Val640Leu) c.1750G>T (p.Val584Leu) c.2086G>T (p.Val696Leu) c.2089G>T (p.Val697Leu) c.1813G>T (p.Val605Leu) c.1975G>T (p.Val659Leu) c.2071G>T (p.Val691Leu) n.490G>T c.2032G>T (p.Val678Leu) c.1864G>T (p.Val622Leu) | |
21 | g.25891790C= | CA2383551617 | APP | n.2110G= n.540G= n.809G= c.2143G= (p.Val715=) c.1918G= (p.Val640=) c.1750G= (p.Val584=) c.2086G= (p.Val696=) c.2089G= (p.Val697=) c.1813G= (p.Val605=) c.1975G= (p.Val659=) c.2071G= (p.Val691=) n.490G= c.2032G= (p.Val678=) c.1864G= (p.Val622=) | |
21 | g.25891790C>G | CA409805560 | APP | n.2110G>C n.540G>C n.809G>C c.2143G>C (p.Val715Leu) c.1918G>C (p.Val640Leu) c.1750G>C (p.Val584Leu) c.2086G>C (p.Val696Leu) c.2089G>C (p.Val697Leu) c.1813G>C (p.Val605Leu) c.1975G>C (p.Val659Leu) c.2071G>C (p.Val691Leu) n.490G>C c.2032G>C (p.Val678Leu) c.1864G>C (p.Val622Leu) | |
21 | g.25891790C>T | CA127800 | APP | n.2110G>A n.540G>A n.809G>A c.2143G>A (p.Val715Met) c.1918G>A (p.Val640Met) c.1750G>A (p.Val584Met) c.2086G>A (p.Val696Met) c.2089G>A (p.Val697Met) c.1813G>A (p.Val605Met) c.1975G>A (p.Val659Met) c.2071G>A (p.Val691Met) n.490G>A c.2032G>A (p.Val678Met) c.1864G>A (p.Val622Met) | ClinVar dbSNP |
21 | g.25891791T>A | CA511685999 | APP | n.2109A>T n.539A>T n.808A>T c.2142A>T (p.Thr714=) c.1917A>T (p.Thr639=) c.1749A>T (p.Thr583=) c.2085A>T (p.Thr695=) c.2088A>T (p.Thr696=) c.1812A>T (p.Thr604=) c.1974A>T (p.Thr658=) c.2070A>T (p.Thr690=) n.489A>T c.2031A>T (p.Thr677=) c.1863A>T (p.Thr621=) | |
21 | g.25891791T>C | CA511686001 | APP | n.2109A>G n.539A>G n.808A>G c.2142A>G (p.Thr714=) c.1917A>G (p.Thr639=) c.1749A>G (p.Thr583=) c.2085A>G (p.Thr695=) c.2088A>G (p.Thr696=) c.1812A>G (p.Thr604=) c.1974A>G (p.Thr658=) c.2070A>G (p.Thr690=) n.489A>G c.2031A>G (p.Thr677=) c.1863A>G (p.Thr621=) | gnomAD v4 |
21 | g.25891791T>G | CA511686000 | APP | n.2109A>C n.539A>C n.808A>C c.2142A>C (p.Thr714=) c.1917A>C (p.Thr639=) c.1749A>C (p.Thr583=) c.2085A>C (p.Thr695=) c.2088A>C (p.Thr696=) c.1812A>C (p.Thr604=) c.1974A>C (p.Thr658=) c.2070A>C (p.Thr690=) n.489A>C c.2031A>C (p.Thr677=) c.1863A>C (p.Thr621=) | |
21 | g.25891792G>A | CA127803 | APP | n.2108C>T n.538C>T n.807C>T c.2141C>T (p.Thr714Ile) c.1916C>T (p.Thr639Ile) c.1748C>T (p.Thr583Ile) c.2084C>T (p.Thr695Ile) c.2087C>T (p.Thr696Ile) c.1811C>T (p.Thr604Ile) c.1973C>T (p.Thr658Ile) c.2069C>T (p.Thr690Ile) n.488C>T c.2030C>T (p.Thr677Ile) c.1862C>T (p.Thr621Ile) | ClinVar dbSNP |
21 | g.25891792G>C | CA409805561 | APP | n.2108C>G n.538C>G n.807C>G c.2141C>G (p.Thr714Arg) c.1916C>G (p.Thr639Arg) c.1748C>G (p.Thr583Arg) c.2084C>G (p.Thr695Arg) c.2087C>G (p.Thr696Arg) c.1811C>G (p.Thr604Arg) c.1973C>G (p.Thr658Arg) c.2069C>G (p.Thr690Arg) n.488C>G c.2030C>G (p.Thr677Arg) c.1862C>G (p.Thr621Arg) | |
21 | g.25891792G= | CA2383551618 | APP | n.2108C= n.538C= n.807C= c.2141C= (p.Thr714=) c.1916C= (p.Thr639=) c.1748C= (p.Thr583=) c.2084C= (p.Thr695=) c.2087C= (p.Thr696=) c.1811C= (p.Thr604=) c.1973C= (p.Thr658=) c.2069C= (p.Thr690=) n.488C= c.2030C= (p.Thr677=) c.1862C= (p.Thr621=) | |
21 | g.25891792G>T | CA409805562 | APP | n.2108C>A n.538C>A n.807C>A c.2141C>A (p.Thr714Lys) c.1916C>A (p.Thr639Lys) c.1748C>A (p.Thr583Lys) c.2084C>A (p.Thr695Lys) c.2087C>A (p.Thr696Lys) c.1811C>A (p.Thr604Lys) c.1973C>A (p.Thr658Lys) c.2069C>A (p.Thr690Lys) n.488C>A c.2030C>A (p.Thr677Lys) c.1862C>A (p.Thr621Lys) | |
21 | g.25891793T>A | CA409805563 | APP | n.2107A>T n.537A>T n.806A>T c.2140A>T (p.Thr714Ser) c.1915A>T (p.Thr639Ser) c.1747A>T (p.Thr583Ser) c.2083A>T (p.Thr695Ser) c.2086A>T (p.Thr696Ser) c.1810A>T (p.Thr604Ser) c.1972A>T (p.Thr658Ser) c.2068A>T (p.Thr690Ser) n.487A>T c.2029A>T (p.Thr677Ser) c.1861A>T (p.Thr621Ser) | |
21 | g.25891793T>C | CA127814 | APP | n.2107A>G n.537A>G n.806A>G c.2140A>G (p.Thr714Ala) c.1915A>G (p.Thr639Ala) c.1747A>G (p.Thr583Ala) c.2083A>G (p.Thr695Ala) c.2086A>G (p.Thr696Ala) c.1810A>G (p.Thr604Ala) c.1972A>G (p.Thr658Ala) c.2068A>G (p.Thr690Ala) n.487A>G c.2029A>G (p.Thr677Ala) c.1861A>G (p.Thr621Ala) | ClinVar dbSNP COSMIC |
21 | g.25891793T>G | CA409805564 | APP | n.2107A>C n.537A>C n.806A>C c.2140A>C (p.Thr714Pro) c.1915A>C (p.Thr639Pro) c.1747A>C (p.Thr583Pro) c.2083A>C (p.Thr695Pro) c.2086A>C (p.Thr696Pro) c.1810A>C (p.Thr604Pro) c.1972A>C (p.Thr658Pro) c.2068A>C (p.Thr690Pro) n.487A>C c.2029A>C (p.Thr677Pro) c.1861A>C (p.Thr621Pro) | |
21 | g.25891793T= | CA2383551619 | APP | n.2107A= n.537A= n.806A= c.2140A= (p.Thr714=) c.1915A= (p.Thr639=) c.1747A= (p.Thr583=) c.2083A= (p.Thr695=) c.2086A= (p.Thr696=) c.1810A= (p.Thr604=) c.1972A= (p.Thr658=) c.2068A= (p.Thr690=) n.487A= c.2029A= (p.Thr677=) c.1861A= (p.Thr621=) | |
21 | g.25891794C>A | CA511686003 | APP | n.2106G>T n.536G>T n.805G>T c.2139G>T (p.Ala713=) c.1914G>T (p.Ala638=) c.1746G>T (p.Ala582=) c.2082G>T (p.Ala694=) c.2085G>T (p.Ala695=) c.1809G>T (p.Ala603=) c.1971G>T (p.Ala657=) c.2067G>T (p.Ala689=) n.486G>T c.2028G>T (p.Ala676=) c.1860G>T (p.Ala620=) | |
21 | g.25891794C= | CA2383551620 | APP | n.2106G= n.536G= n.805G= c.2139G= (p.Ala713=) c.1914G= (p.Ala638=) c.1746G= (p.Ala582=) c.2082G= (p.Ala694=) c.2085G= (p.Ala695=) c.1809G= (p.Ala603=) c.1971G= (p.Ala657=) c.2067G= (p.Ala689=) n.486G= c.2028G= (p.Ala676=) c.1860G= (p.Ala620=) | |
21 | g.25891794C>G | CA511686002 | APP | n.2106G>C n.536G>C n.805G>C c.2139G>C (p.Ala713=) c.1914G>C (p.Ala638=) c.1746G>C (p.Ala582=) c.2082G>C (p.Ala694=) c.2085G>C (p.Ala695=) c.1809G>C (p.Ala603=) c.1971G>C (p.Ala657=) c.2067G>C (p.Ala689=) n.486G>C c.2028G>C (p.Ala676=) c.1860G>C (p.Ala620=) | |
21 | g.25891794C>T | CA9987051 | APP | n.2106G>A n.536G>A n.805G>A c.2139G>A (p.Ala713=) c.1914G>A (p.Ala638=) c.1746G>A (p.Ala582=) c.2082G>A (p.Ala694=) c.2085G>A (p.Ala695=) c.1809G>A (p.Ala603=) c.1971G>A (p.Ala657=) c.2067G>A (p.Ala689=) n.486G>A c.2028G>A (p.Ala676=) c.1860G>A (p.Ala620=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.25891795G>A | CA225505 | APP | n.2105C>T n.535C>T n.804C>T c.2138C>T (p.Ala713Val) c.1913C>T (p.Ala638Val) c.1745C>T (p.Ala582Val) c.2081C>T (p.Ala694Val) c.2084C>T (p.Ala695Val) c.1808C>T (p.Ala603Val) c.1970C>T (p.Ala657Val) c.2066C>T (p.Ala689Val) n.485C>T c.2027C>T (p.Ala676Val) c.1859C>T (p.Ala620Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.25891795G>C | CA409805565 | APP | n.2105C>G n.535C>G n.804C>G c.2138C>G (p.Ala713Gly) c.1913C>G (p.Ala638Gly) c.1745C>G (p.Ala582Gly) c.2081C>G (p.Ala694Gly) c.2084C>G (p.Ala695Gly) c.1808C>G (p.Ala603Gly) c.1970C>G (p.Ala657Gly) c.2066C>G (p.Ala689Gly) n.485C>G c.2027C>G (p.Ala676Gly) c.1859C>G (p.Ala620Gly) | |
21 | g.25891795G= | CA2383551621 | APP | n.2105C= n.535C= n.804C= c.2138C= (p.Ala713=) c.1913C= (p.Ala638=) c.1745C= (p.Ala582=) c.2081C= (p.Ala694=) c.2084C= (p.Ala695=) c.1808C= (p.Ala603=) c.1970C= (p.Ala657=) c.2066C= (p.Ala689=) n.485C= c.2027C= (p.Ala676=) c.1859C= (p.Ala620=) | |
21 | g.25891795G>T | CA409805566 | APP | n.2105C>A n.535C>A n.804C>A c.2138C>A (p.Ala713Glu) c.1913C>A (p.Ala638Glu) c.1745C>A (p.Ala582Glu) c.2081C>A (p.Ala694Glu) c.2084C>A (p.Ala695Glu) c.1808C>A (p.Ala603Glu) c.1970C>A (p.Ala657Glu) c.2066C>A (p.Ala689Glu) n.485C>A c.2027C>A (p.Ala676Glu) c.1859C>A (p.Ala620Glu) | COSMIC |
21 | g.25891796C>A | CA409805568 | APP | n.2104G>T n.534G>T n.803G>T c.2137G>T (p.Ala713Ser) c.1912G>T (p.Ala638Ser) c.1744G>T (p.Ala582Ser) c.2080G>T (p.Ala694Ser) c.2083G>T (p.Ala695Ser) c.1807G>T (p.Ala603Ser) c.1969G>T (p.Ala657Ser) c.2065G>T (p.Ala689Ser) n.484G>T c.2026G>T (p.Ala676Ser) c.1858G>T (p.Ala620Ser) | |
21 | g.25891796C= | CA2383551622 | APP | n.2104G= n.534G= n.803G= c.2137G= (p.Ala713=) c.1912G= (p.Ala638=) c.1744G= (p.Ala582=) c.2080G= (p.Ala694=) c.2083G= (p.Ala695=) c.1807G= (p.Ala603=) c.1969G= (p.Ala657=) c.2065G= (p.Ala689=) n.484G= c.2026G= (p.Ala676=) c.1858G= (p.Ala620=) | |
21 | g.25891796C>G | CA409805567 | APP | n.2104G>C n.534G>C n.803G>C c.2137G>C (p.Ala713Pro) c.1912G>C (p.Ala638Pro) c.1744G>C (p.Ala582Pro) c.2080G>C (p.Ala694Pro) c.2083G>C (p.Ala695Pro) c.1807G>C (p.Ala603Pro) c.1969G>C (p.Ala657Pro) c.2065G>C (p.Ala689Pro) n.484G>C c.2026G>C (p.Ala676Pro) c.1858G>C (p.Ala620Pro) | |
21 | g.25891796C>T | CA090906 | APP | n.2104G>A n.534G>A n.803G>A c.2137G>A (p.Ala713Thr) c.1912G>A (p.Ala638Thr) c.1744G>A (p.Ala582Thr) c.2080G>A (p.Ala694Thr) c.2083G>A (p.Ala695Thr) c.1807G>A (p.Ala603Thr) c.1969G>A (p.Ala657Thr) c.2065G>A (p.Ala689Thr) n.484G>A c.2026G>A (p.Ala676Thr) c.1858G>A (p.Ala620Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.25891797T>A | CA511686004 | APP | n.2103A>T n.533A>T n.802A>T c.2136A>T (p.Ile712=) c.1911A>T (p.Ile637=) c.1743A>T (p.Ile581=) c.2079A>T (p.Ile693=) c.2082A>T (p.Ile694=) c.1806A>T (p.Ile602=) c.1968A>T (p.Ile656=) c.2064A>T (p.Ile688=) n.483A>T c.2025A>T (p.Ile675=) c.1857A>T (p.Ile619=) | |
21 | g.25891797T>C | CA409805569 | APP | n.2103A>G n.533A>G n.802A>G c.2136A>G (p.Ile712Met) c.1911A>G (p.Ile637Met) c.1743A>G (p.Ile581Met) c.2079A>G (p.Ile693Met) c.2082A>G (p.Ile694Met) c.1806A>G (p.Ile602Met) c.1968A>G (p.Ile656Met) c.2064A>G (p.Ile688Met) n.483A>G c.2025A>G (p.Ile675Met) c.1857A>G (p.Ile619Met) | |
21 | g.25891797T>G | CA511686005 | APP | n.2103A>C n.533A>C n.802A>C c.2136A>C (p.Ile712=) c.1911A>C (p.Ile637=) c.1743A>C (p.Ile581=) c.2079A>C (p.Ile693=) c.2082A>C (p.Ile694=) c.1806A>C (p.Ile602=) c.1968A>C (p.Ile656=) c.2064A>C (p.Ile688=) n.483A>C c.2025A>C (p.Ile675=) c.1857A>C (p.Ile619=) | |
21 | g.25891798A>C | CA409805570 | APP | n.2102T>G n.532T>G n.801T>G c.2135T>G (p.Ile712Arg) c.1910T>G (p.Ile637Arg) c.1742T>G (p.Ile581Arg) c.2078T>G (p.Ile693Arg) c.2081T>G (p.Ile694Arg) c.1805T>G (p.Ile602Arg) c.1967T>G (p.Ile656Arg) c.2063T>G (p.Ile688Arg) n.482T>G c.2024T>G (p.Ile675Arg) c.1856T>G (p.Ile619Arg) | |
21 | g.25891798A>G | CA409805571 | APP | n.2102T>C n.532T>C n.801T>C c.2135T>C (p.Ile712Thr) c.1910T>C (p.Ile637Thr) c.1742T>C (p.Ile581Thr) c.2078T>C (p.Ile693Thr) c.2081T>C (p.Ile694Thr) c.1805T>C (p.Ile602Thr) c.1967T>C (p.Ile656Thr) c.2063T>C (p.Ile688Thr) n.482T>C c.2024T>C (p.Ile675Thr) c.1856T>C (p.Ile619Thr) | |
21 | g.25891798A>T | CA409805572 | APP | n.2102T>A n.532T>A n.801T>A c.2135T>A (p.Ile712Lys) c.1910T>A (p.Ile637Lys) c.1742T>A (p.Ile581Lys) c.2078T>A (p.Ile693Lys) c.2081T>A (p.Ile694Lys) c.1805T>A (p.Ile602Lys) c.1967T>A (p.Ile656Lys) c.2063T>A (p.Ile688Lys) n.482T>A c.2024T>A (p.Ile675Lys) c.1856T>A (p.Ile619Lys) | |
21 | g.25891799T>A | CA409805573 | APP | n.2101A>T n.531A>T n.800A>T c.2134A>T (p.Ile712Leu) c.1909A>T (p.Ile637Leu) c.1741A>T (p.Ile581Leu) c.2077A>T (p.Ile693Leu) c.2080A>T (p.Ile694Leu) c.1804A>T (p.Ile602Leu) c.1966A>T (p.Ile656Leu) c.2062A>T (p.Ile688Leu) n.481A>T c.2023A>T (p.Ile675Leu) c.1855A>T (p.Ile619Leu) | |
21 | g.25891799T>C | CA409805574 | APP | n.2101A>G n.531A>G n.800A>G c.2134A>G (p.Ile712Val) c.1909A>G (p.Ile637Val) c.1741A>G (p.Ile581Val) c.2077A>G (p.Ile693Val) c.2080A>G (p.Ile694Val) c.1804A>G (p.Ile602Val) c.1966A>G (p.Ile656Val) c.2062A>G (p.Ile688Val) n.481A>G c.2023A>G (p.Ile675Val) c.1855A>G (p.Ile619Val) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.25891799T>G | CA409805575 | APP | n.2101A>C n.531A>C n.800A>C c.2134A>C (p.Ile712Leu) c.1909A>C (p.Ile637Leu) c.1741A>C (p.Ile581Leu) c.2077A>C (p.Ile693Leu) c.2080A>C (p.Ile694Leu) c.1804A>C (p.Ile602Leu) c.1966A>C (p.Ile656Leu) c.2062A>C (p.Ile688Leu) n.481A>C c.2023A>C (p.Ile675Leu) c.1855A>C (p.Ile619Leu) | |
21 | g.25891799T= | CA2383551623 | APP | n.2101A= n.531A= n.800A= c.2134A= (p.Ile712=) c.1909A= (p.Ile637=) c.1741A= (p.Ile581=) c.2077A= (p.Ile693=) c.2080A= (p.Ile694=) c.1804A= (p.Ile602=) c.1966A= (p.Ile656=) c.2062A= (p.Ile688=) n.481A= c.2023A= (p.Ile675=) c.1855A= (p.Ile619=) | |
21 | g.25891800G>A | CA511686006 | APP | n.2100C>T n.530C>T n.799C>T c.2133C>T (p.Val711=) c.1908C>T (p.Val636=) c.1740C>T (p.Val580=) c.2076C>T (p.Val692=) c.2079C>T (p.Val693=) c.1803C>T (p.Val601=) c.1965C>T (p.Val655=) c.2061C>T (p.Val687=) n.480C>T c.2022C>T (p.Val674=) c.1854C>T (p.Val618=) | |
21 | g.25891800G>C | CA511686007 | APP | n.2100C>G n.530C>G n.799C>G c.2133C>G (p.Val711=) c.1908C>G (p.Val636=) c.1740C>G (p.Val580=) c.2076C>G (p.Val692=) c.2079C>G (p.Val693=) c.1803C>G (p.Val601=) c.1965C>G (p.Val655=) c.2061C>G (p.Val687=) n.480C>G c.2022C>G (p.Val674=) c.1854C>G (p.Val618=) | |
21 | g.25891800G= | CA2383551624 | APP | n.2100C= n.530C= n.799C= c.2133C= (p.Val711=) c.1908C= (p.Val636=) c.1740C= (p.Val580=) c.2076C= (p.Val692=) c.2079C= (p.Val693=) c.1803C= (p.Val601=) c.1965C= (p.Val655=) c.2061C= (p.Val687=) n.480C= c.2022C= (p.Val674=) c.1854C= (p.Val618=) | |
21 | g.25891800G>T | CA9987052 | APP | n.2100C>A n.530C>A n.799C>A c.2133C>A (p.Val711=) c.1908C>A (p.Val636=) c.1740C>A (p.Val580=) c.2076C>A (p.Val692=) c.2079C>A (p.Val693=) c.1803C>A (p.Val601=) c.1965C>A (p.Val655=) c.2061C>A (p.Val687=) n.480C>A c.2022C>A (p.Val674=) c.1854C>A (p.Val618=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.25891801A>C | CA409805576 | APP | n.2099T>G n.529T>G n.798T>G c.2132T>G (p.Val711Gly) c.1907T>G (p.Val636Gly) c.1739T>G (p.Val580Gly) c.2075T>G (p.Val692Gly) c.2078T>G (p.Val693Gly) c.1802T>G (p.Val601Gly) c.1964T>G (p.Val655Gly) c.2060T>G (p.Val687Gly) n.479T>G c.2021T>G (p.Val674Gly) c.1853T>G (p.Val618Gly) | |
21 | g.25891801A>G | CA409805577 | APP | n.2099T>C n.529T>C n.798T>C c.2132T>C (p.Val711Ala) c.1907T>C (p.Val636Ala) c.1739T>C (p.Val580Ala) c.2075T>C (p.Val692Ala) c.2078T>C (p.Val693Ala) c.1802T>C (p.Val601Ala) c.1964T>C (p.Val655Ala) c.2060T>C (p.Val687Ala) n.479T>C c.2021T>C (p.Val674Ala) c.1853T>C (p.Val618Ala) | |
21 | g.25891801A>T | CA409805578 | APP | n.2099T>A n.529T>A n.798T>A c.2132T>A (p.Val711Asp) c.1907T>A (p.Val636Asp) c.1739T>A (p.Val580Asp) c.2075T>A (p.Val692Asp) c.2078T>A (p.Val693Asp) c.1802T>A (p.Val601Asp) c.1964T>A (p.Val655Asp) c.2060T>A (p.Val687Asp) n.479T>A c.2021T>A (p.Val674Asp) c.1853T>A (p.Val618Asp) | |
21 | g.25891804_25891806del | CA2654122451 | APP | n.2097_2099del n.527_529del n.796_798del c.2130_2132del (p.Val711del) c.1905_1907del (p.Val636del) c.1737_1739del (p.Val580del) c.2073_2075del (p.Val692del) c.2076_2078del (p.Val693del) c.1800_1802del (p.Val601del) c.1962_1964del (p.Val655del) c.2058_2060del (p.Val687del) n.477_479del c.2019_2021del (p.Val674del) c.1851_1853del (p.Val618del) | gnomAD v4 |
21 | g.25891802C>A | CA409805580 | APP | n.2098G>T n.528G>T n.797G>T c.2131G>T (p.Val711Phe) c.1906G>T (p.Val636Phe) c.1738G>T (p.Val580Phe) c.2074G>T (p.Val692Phe) c.2077G>T (p.Val693Phe) c.1801G>T (p.Val601Phe) c.1963G>T (p.Val655Phe) c.2059G>T (p.Val687Phe) n.478G>T c.2020G>T (p.Val674Phe) c.1852G>T (p.Val618Phe) | |
21 | g.25891802C>G | CA409805581 | APP | n.2098G>C n.528G>C n.797G>C c.2131G>C (p.Val711Leu) c.1906G>C (p.Val636Leu) c.1738G>C (p.Val580Leu) c.2074G>C (p.Val692Leu) c.2077G>C (p.Val693Leu) c.1801G>C (p.Val601Leu) c.1963G>C (p.Val655Leu) c.2059G>C (p.Val687Leu) n.478G>C c.2020G>C (p.Val674Leu) c.1852G>C (p.Val618Leu) | |
21 | g.25891802C>T | CA409805579 | APP | n.2098G>A n.528G>A n.797G>A c.2131G>A (p.Val711Ile) c.1906G>A (p.Val636Ile) c.1738G>A (p.Val580Ile) c.2074G>A (p.Val692Ile) c.2077G>A (p.Val693Ile) c.1801G>A (p.Val601Ile) c.1963G>A (p.Val655Ile) c.2059G>A (p.Val687Ile) n.478G>A c.2020G>A (p.Val674Ile) c.1852G>A (p.Val618Ile) | gnomAD v4 |
21 | g.25891803A= | CA2383551625 | APP | n.2097T= n.527T= n.796T= c.2130T= (p.Val710=) c.1905T= (p.Val635=) c.1737T= (p.Val579=) c.2073T= (p.Val691=) c.2076T= (p.Val692=) c.1800T= (p.Val600=) c.1962T= (p.Val654=) c.2058T= (p.Val686=) n.477T= c.2019T= (p.Val673=) c.1851T= (p.Val617=) | |
21 | g.25891803A>C | CA511686009 | APP | n.2097T>G n.527T>G n.796T>G c.2130T>G (p.Val710=) c.1905T>G (p.Val635=) c.1737T>G (p.Val579=) c.2073T>G (p.Val691=) c.2076T>G (p.Val692=) c.1800T>G (p.Val600=) c.1962T>G (p.Val654=) c.2058T>G (p.Val686=) n.477T>G c.2019T>G (p.Val673=) c.1851T>G (p.Val617=) | |
21 | g.25891803A>G | CA511686010 | APP | n.2097T>C n.527T>C n.796T>C c.2130T>C (p.Val710=) c.1905T>C (p.Val635=) c.1737T>C (p.Val579=) c.2073T>C (p.Val691=) c.2076T>C (p.Val692=) c.1800T>C (p.Val600=) c.1962T>C (p.Val654=) c.2058T>C (p.Val686=) n.477T>C c.2019T>C (p.Val673=) c.1851T>C (p.Val617=) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.25891803A>T | CA511686008 | APP | n.2097T>A n.527T>A n.796T>A c.2130T>A (p.Val710=) c.1905T>A (p.Val635=) c.1737T>A (p.Val579=) c.2073T>A (p.Val691=) c.2076T>A (p.Val692=) c.1800T>A (p.Val600=) c.1962T>A (p.Val654=) c.2058T>A (p.Val686=) n.477T>A c.2019T>A (p.Val673=) c.1851T>A (p.Val617=) | |
21 | g.25891804A>C | CA409805582 | APP | n.2096T>G n.526T>G n.795T>G c.2129T>G (p.Val710Gly) c.1904T>G (p.Val635Gly) c.1736T>G (p.Val579Gly) c.2072T>G (p.Val691Gly) c.2075T>G (p.Val692Gly) c.1799T>G (p.Val600Gly) c.1961T>G (p.Val654Gly) c.2057T>G (p.Val686Gly) n.476T>G c.2018T>G (p.Val673Gly) c.1850T>G (p.Val617Gly) | gnomAD v4 |
21 | g.25891804A>G | CA409805583 | APP | n.2096T>C n.526T>C n.795T>C c.2129T>C (p.Val710Ala) c.1904T>C (p.Val635Ala) c.1736T>C (p.Val579Ala) c.2072T>C (p.Val691Ala) c.2075T>C (p.Val692Ala) c.1799T>C (p.Val600Ala) c.1961T>C (p.Val654Ala) c.2057T>C (p.Val686Ala) n.476T>C c.2018T>C (p.Val673Ala) c.1850T>C (p.Val617Ala) | |
21 | g.25891804A>T | CA409805584 | APP | n.2096T>A n.526T>A n.795T>A c.2129T>A (p.Val710Asp) c.1904T>A (p.Val635Asp) c.1736T>A (p.Val579Asp) c.2072T>A (p.Val691Asp) c.2075T>A (p.Val692Asp) c.1799T>A (p.Val600Asp) c.1961T>A (p.Val654Asp) c.2057T>A (p.Val686Asp) n.476T>A c.2018T>A (p.Val673Asp) c.1850T>A (p.Val617Asp) | |
21 | g.25891805C>A | CA409805585 | APP | n.2095G>T n.525G>T n.794G>T c.2128G>T (p.Val710Phe) c.1903G>T (p.Val635Phe) c.1735G>T (p.Val579Phe) c.2071G>T (p.Val691Phe) c.2074G>T (p.Val692Phe) c.1798G>T (p.Val600Phe) c.1960G>T (p.Val654Phe) c.2056G>T (p.Val686Phe) n.475G>T c.2017G>T (p.Val673Phe) c.1849G>T (p.Val617Phe) | |
21 | g.25891805C= | CA2383551626 | APP | n.2095G= n.525G= n.794G= c.2128G= (p.Val710=) c.1903G= (p.Val635=) c.1735G= (p.Val579=) c.2071G= (p.Val691=) c.2074G= (p.Val692=) c.1798G= (p.Val600=) c.1960G= (p.Val654=) c.2056G= (p.Val686=) n.475G= c.2017G= (p.Val673=) c.1849G= (p.Val617=) | |
21 | g.25891805C>G | CA409805586 | APP | n.2095G>C n.525G>C n.794G>C c.2128G>C (p.Val710Leu) c.1903G>C (p.Val635Leu) c.1735G>C (p.Val579Leu) c.2071G>C (p.Val691Leu) c.2074G>C (p.Val692Leu) c.1798G>C (p.Val600Leu) c.1960G>C (p.Val654Leu) c.2056G>C (p.Val686Leu) n.475G>C c.2017G>C (p.Val673Leu) c.1849G>C (p.Val617Leu) | |
21 | g.25891805C>T | CA9987053 | APP | n.2095G>A n.525G>A n.794G>A c.2128G>A (p.Val710Ile) c.1903G>A (p.Val635Ile) c.1735G>A (p.Val579Ile) c.2071G>A (p.Val691Ile) c.2074G>A (p.Val692Ile) c.1798G>A (p.Val600Ile) c.1960G>A (p.Val654Ile) c.2056G>A (p.Val686Ile) n.475G>A c.2017G>A (p.Val673Ile) c.1849G>A (p.Val617Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.25891806A>C | CA511686013 | APP | n.2094T>G n.524T>G n.793T>G c.2127T>G (p.Gly709=) c.1902T>G (p.Gly634=) c.1734T>G (p.Gly578=) c.2070T>G (p.Gly690=) c.2073T>G (p.Gly691=) c.1797T>G (p.Gly599=) c.1959T>G (p.Gly653=) c.2055T>G (p.Gly685=) n.474T>G c.2016T>G (p.Gly672=) c.1848T>G (p.Gly616=) | |
21 | g.25891806A>G | CA511686011 | APP | n.2094T>C n.524T>C n.793T>C c.2127T>C (p.Gly709=) c.1902T>C (p.Gly634=) c.1734T>C (p.Gly578=) c.2070T>C (p.Gly690=) c.2073T>C (p.Gly691=) c.1797T>C (p.Gly599=) c.1959T>C (p.Gly653=) c.2055T>C (p.Gly685=) n.474T>C c.2016T>C (p.Gly672=) c.1848T>C (p.Gly616=) | gnomAD v4 COSMIC |
21 | g.25891806A>T | CA511686012 | APP | n.2094T>A n.524T>A n.793T>A c.2127T>A (p.Gly709=) c.1902T>A (p.Gly634=) c.1734T>A (p.Gly578=) c.2070T>A (p.Gly690=) c.2073T>A (p.Gly691=) c.1797T>A (p.Gly599=) c.1959T>A (p.Gly653=) c.2055T>A (p.Gly685=) n.474T>A c.2016T>A (p.Gly672=) c.1848T>A (p.Gly616=) | |
21 | g.25891807C>A | CA9987054 | APP | n.2093G>T n.523G>T n.792G>T c.2126G>T (p.Gly709Val) c.1901G>T (p.Gly634Val) c.1733G>T (p.Gly578Val) c.2069G>T (p.Gly690Val) c.2072G>T (p.Gly691Val) c.1796G>T (p.Gly599Val) c.1958G>T (p.Gly653Val) c.2054G>T (p.Gly685Val) n.473G>T c.2015G>T (p.Gly672Val) c.1847G>T (p.Gly616Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.25891807C= | CA2383551627 | APP | n.2093G= n.523G= n.792G= c.2126G= (p.Gly709=) c.1901G= (p.Gly634=) c.1733G= (p.Gly578=) c.2069G= (p.Gly690=) c.2072G= (p.Gly691=) c.1796G= (p.Gly599=) c.1958G= (p.Gly653=) c.2054G= (p.Gly685=) n.473G= c.2015G= (p.Gly672=) c.1847G= (p.Gly616=) | |
21 | g.25891807C>G | CA409805588 | APP | n.2093G>C n.523G>C n.792G>C c.2126G>C (p.Gly709Ala) c.1901G>C (p.Gly634Ala) c.1733G>C (p.Gly578Ala) c.2069G>C (p.Gly690Ala) c.2072G>C (p.Gly691Ala) c.1796G>C (p.Gly599Ala) c.1958G>C (p.Gly653Ala) c.2054G>C (p.Gly685Ala) n.473G>C c.2015G>C (p.Gly672Ala) c.1847G>C (p.Gly616Ala) | COSMIC |
21 | g.25891807C>T | CA409805587 | APP | n.2093G>A n.523G>A n.792G>A c.2126G>A (p.Gly709Asp) c.1901G>A (p.Gly634Asp) c.1733G>A (p.Gly578Asp) c.2069G>A (p.Gly690Asp) c.2072G>A (p.Gly691Asp) c.1796G>A (p.Gly599Asp) c.1958G>A (p.Gly653Asp) c.2054G>A (p.Gly685Asp) n.473G>A c.2015G>A (p.Gly672Asp) c.1847G>A (p.Gly616Asp) | |
21 | g.25891808C>A | CA9987056 | APP | n.2092G>T n.522G>T n.791G>T c.2125G>T (p.Gly709Cys) c.1900G>T (p.Gly634Cys) c.1732G>T (p.Gly578Cys) c.2068G>T (p.Gly690Cys) c.2071G>T (p.Gly691Cys) c.1795G>T (p.Gly599Cys) c.1957G>T (p.Gly653Cys) c.2053G>T (p.Gly685Cys) n.472G>T c.2014G>T (p.Gly672Cys) c.1846G>T (p.Gly616Cys) | dbSNP ExAC |
21 | g.25891808C= | CA2383551628 | APP | n.2092G= n.522G= n.791G= c.2125G= (p.Gly709=) c.1900G= (p.Gly634=) c.1732G= (p.Gly578=) c.2068G= (p.Gly690=) c.2071G= (p.Gly691=) c.1795G= (p.Gly599=) c.1957G= (p.Gly653=) c.2053G= (p.Gly685=) n.472G= c.2014G= (p.Gly672=) c.1846G= (p.Gly616=) | |
21 | g.25891808C>G | CA409805589 | APP | n.2092G>C n.522G>C n.791G>C c.2125G>C (p.Gly709Arg) c.1900G>C (p.Gly634Arg) c.1732G>C (p.Gly578Arg) c.2068G>C (p.Gly690Arg) c.2071G>C (p.Gly691Arg) c.1795G>C (p.Gly599Arg) c.1957G>C (p.Gly653Arg) c.2053G>C (p.Gly685Arg) n.472G>C c.2014G>C (p.Gly672Arg) c.1846G>C (p.Gly616Arg) | |
21 | g.25891808C>T | CA9987055 | APP | n.2092G>A n.522G>A n.791G>A c.2125G>A (p.Gly709Ser) c.1900G>A (p.Gly634Ser) c.1732G>A (p.Gly578Ser) c.2068G>A (p.Gly690Ser) c.2071G>A (p.Gly691Ser) c.1795G>A (p.Gly599Ser) c.1957G>A (p.Gly653Ser) c.2053G>A (p.Gly685Ser) n.472G>A c.2014G>A (p.Gly672Ser) c.1846G>A (p.Gly616Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.25891809G>A | CA9987057 | APP | n.2091C>T n.521C>T n.790C>T c.2124C>T (p.Gly708=) c.1899C>T (p.Gly633=) c.1731C>T (p.Gly577=) c.2067C>T (p.Gly689=) c.2070C>T (p.Gly690=) c.1794C>T (p.Gly598=) c.1956C>T (p.Gly652=) c.2052C>T (p.Gly684=) n.471C>T c.2013C>T (p.Gly671=) c.1845C>T (p.Gly615=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.25891809G>C | CA511686014 | APP | n.2091C>G n.521C>G n.790C>G c.2124C>G (p.Gly708=) c.1899C>G (p.Gly633=) c.1731C>G (p.Gly577=) c.2067C>G (p.Gly689=) c.2070C>G (p.Gly690=) c.1794C>G (p.Gly598=) c.1956C>G (p.Gly652=) c.2052C>G (p.Gly684=) n.471C>G c.2013C>G (p.Gly671=) c.1845C>G (p.Gly615=) | |
21 | g.25891809G= | CA2383551629 | APP | n.2091C= n.521C= n.790C= c.2124C= (p.Gly708=) c.1899C= (p.Gly633=) c.1731C= (p.Gly577=) c.2067C= (p.Gly689=) c.2070C= (p.Gly690=) c.1794C= (p.Gly598=) c.1956C= (p.Gly652=) c.2052C= (p.Gly684=) n.471C= c.2013C= (p.Gly671=) c.1845C= (p.Gly615=) | |
21 | g.25891809G>T | CA511686015 | APP | n.2091C>A n.521C>A n.790C>A c.2124C>A (p.Gly708=) c.1899C>A (p.Gly633=) c.1731C>A (p.Gly577=) c.2067C>A (p.Gly689=) c.2070C>A (p.Gly690=) c.1794C>A (p.Gly598=) c.1956C>A (p.Gly652=) c.2052C>A (p.Gly684=) n.471C>A c.2013C>A (p.Gly671=) c.1845C>A (p.Gly615=) | |
21 | g.25891810C>A | CA409805590 | APP | n.2090G>T n.520G>T n.789G>T c.2123G>T (p.Gly708Val) c.1898G>T (p.Gly633Val) c.1730G>T (p.Gly577Val) c.2066G>T (p.Gly689Val) c.2069G>T (p.Gly690Val) c.1793G>T (p.Gly598Val) c.1955G>T (p.Gly652Val) c.2051G>T (p.Gly684Val) n.470G>T c.2012G>T (p.Gly671Val) c.1844G>T (p.Gly615Val) | |
21 | g.25891810C>G | CA409805592 | APP | n.2090G>C n.520G>C n.789G>C c.2123G>C (p.Gly708Ala) c.1898G>C (p.Gly633Ala) c.1730G>C (p.Gly577Ala) c.2066G>C (p.Gly689Ala) c.2069G>C (p.Gly690Ala) c.1793G>C (p.Gly598Ala) c.1955G>C (p.Gly652Ala) c.2051G>C (p.Gly684Ala) n.470G>C c.2012G>C (p.Gly671Ala) c.1844G>C (p.Gly615Ala) | |
21 | g.25891810C>T | CA409805591 | APP | n.2090G>A n.520G>A n.789G>A c.2123G>A (p.Gly708Asp) c.1898G>A (p.Gly633Asp) c.1730G>A (p.Gly577Asp) c.2066G>A (p.Gly689Asp) c.2069G>A (p.Gly690Asp) c.1793G>A (p.Gly598Asp) c.1955G>A (p.Gly652Asp) c.2051G>A (p.Gly684Asp) n.470G>A c.2012G>A (p.Gly671Asp) c.1844G>A (p.Gly615Asp) | |
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.25891811C>A | CA409805593 | APP | n.2089G>T n.519G>T n.788G>T c.2122G>T (p.Gly708Cys) c.1897G>T (p.Gly633Cys) c.1729G>T (p.Gly577Cys) c.2065G>T (p.Gly689Cys) c.2068G>T (p.Gly690Cys) c.1792G>T (p.Gly598Cys) c.1954G>T (p.Gly652Cys) c.2050G>T (p.Gly684Cys) n.469G>T c.2011G>T (p.Gly671Cys) c.1843G>T (p.Gly615Cys) | |
21 | g.25891811C>G | CA409805594 | APP | n.2089G>C n.519G>C n.788G>C c.2122G>C (p.Gly708Arg) c.1897G>C (p.Gly633Arg) c.1729G>C (p.Gly577Arg) c.2065G>C (p.Gly689Arg) c.2068G>C (p.Gly690Arg) c.1792G>C (p.Gly598Arg) c.1954G>C (p.Gly652Arg) c.2050G>C (p.Gly684Arg) n.469G>C c.2011G>C (p.Gly671Arg) c.1843G>C (p.Gly615Arg) | |
21 | g.25891811C>T | CA409805595 | APP | n.2089G>A n.519G>A n.788G>A c.2122G>A (p.Gly708Ser) c.1897G>A (p.Gly633Ser) c.1729G>A (p.Gly577Ser) c.2065G>A (p.Gly689Ser) c.2068G>A (p.Gly690Ser) c.1792G>A (p.Gly598Ser) c.1954G>A (p.Gly652Ser) c.2050G>A (p.Gly684Ser) n.469G>A c.2011G>A (p.Gly671Ser) c.1843G>A (p.Gly615Ser) | |
21 | g.25891812C>A | CA511686017 | APP | n.2088G>T n.518G>T n.787G>T c.2121G>T (p.Val707=) c.1896G>T (p.Val632=) c.1728G>T (p.Val576=) c.2064G>T (p.Val688=) c.2067G>T (p.Val689=) c.1791G>T (p.Val597=) c.1953G>T (p.Val651=) c.2049G>T (p.Val683=) n.468G>T c.2010G>T (p.Val670=) c.1842G>T (p.Val614=) | |
21 | g.25891812C>G | CA511686018 | APP | n.2088G>C n.518G>C n.787G>C c.2121G>C (p.Val707=) c.1896G>C (p.Val632=) c.1728G>C (p.Val576=) c.2064G>C (p.Val688=) c.2067G>C (p.Val689=) c.1791G>C (p.Val597=) c.1953G>C (p.Val651=) c.2049G>C (p.Val683=) n.468G>C c.2010G>C (p.Val670=) c.1842G>C (p.Val614=) | |
21 | g.25891812C>T | CA511686016 | APP | n.2088G>A n.518G>A n.787G>A c.2121G>A (p.Val707=) c.1896G>A (p.Val632=) c.1728G>A (p.Val576=) c.2064G>A (p.Val688=) c.2067G>A (p.Val689=) c.1791G>A (p.Val597=) c.1953G>A (p.Val651=) c.2049G>A (p.Val683=) n.468G>A c.2010G>A (p.Val670=) c.1842G>A (p.Val614=) | gnomAD v4 |
21 | g.25891813A>C | CA409805596 | APP | n.2087T>G n.517T>G n.786T>G c.2120T>G (p.Val707Gly) c.1895T>G (p.Val632Gly) c.1727T>G (p.Val576Gly) c.2063T>G (p.Val688Gly) c.2066T>G (p.Val689Gly) c.1790T>G (p.Val597Gly) c.1952T>G (p.Val651Gly) c.2048T>G (p.Val683Gly) n.467T>G c.2009T>G (p.Val670Gly) c.1841T>G (p.Val614Gly) | |
21 | g.25891813A>G | CA409805597 | APP | n.2087T>C n.517T>C n.786T>C c.2120T>C (p.Val707Ala) c.1895T>C (p.Val632Ala) c.1727T>C (p.Val576Ala) c.2063T>C (p.Val688Ala) c.2066T>C (p.Val689Ala) c.1790T>C (p.Val597Ala) c.1952T>C (p.Val651Ala) c.2048T>C (p.Val683Ala) n.467T>C c.2009T>C (p.Val670Ala) c.1841T>C (p.Val614Ala) | |
21 | g.25891813A>T | CA409805598 | APP | n.2087T>A n.517T>A n.786T>A c.2120T>A (p.Val707Glu) c.1895T>A (p.Val632Glu) c.1727T>A (p.Val576Glu) c.2063T>A (p.Val688Glu) c.2066T>A (p.Val689Glu) c.1790T>A (p.Val597Glu) c.1952T>A (p.Val651Glu) c.2048T>A (p.Val683Glu) n.467T>A c.2009T>A (p.Val670Glu) c.1841T>A (p.Val614Glu) | |
21 | g.25891813_25891814insAA | CA2817564447 | APP | n.2087_2088insTT n.517_518insTT n.786_787insTT c.2120_2121insTT (p.Gly708TrpfsTer6) c.1895_1896insTT (p.Gly633TrpfsTer6) c.1727_1728insTT (p.Gly577TrpfsTer6) c.2063_2064insTT (p.Gly689TrpfsTer6) c.2066_2067insTT (p.Gly690TrpfsTer6) c.1790_1791insTT (p.Gly598TrpfsTer6) c.1952_1953insTT (p.Gly652TrpfsTer6) c.2048_2049insTT (p.Gly684TrpfsTer6) n.467_468insTT c.2009_2010insTT (p.Gly671TrpfsTer6) c.1841_1842insTT (p.Gly615TrpfsTer6) | |
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.25891814_25891815insACACCCAACA | CA2817564448 | APP | n.2085_2086insTGTTGGGTGT n.515_516insTGTTGGGTGT n.784_785insTGTTGGGTGT c.2118_2119insTGTTGGGTGT (p.Val707CysfsTer?) c.1893_1894insTGTTGGGTGT (p.Val632CysfsTer?) c.1725_1726insTGTTGGGTGT (p.Val576CysfsTer?) c.2061_2062insTGTTGGGTGT (p.Val688CysfsTer?) c.2064_2065insTGTTGGGTGT (p.Val689CysfsTer?) c.1788_1789insTGTTGGGTGT (p.Val597CysfsTer?) c.1950_1951insTGTTGGGTGT (p.Val651CysfsTer?) c.2046_2047insTGTTGGGTGT (p.Val683CysfsTer?) n.465_466insTGTTGGGTGT c.2007_2008insTGTTGGGTGT (p.Val670CysfsTer?) c.1839_1840insTGTTGGGTGT (p.Val614CysfsTer?) | |
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) | |
21 | g.25891828A>G | CA409805629 | APP | n.2072T>C n.502T>C n.771T>C c.2105T>C (p.Ile702Thr) c.1880T>C (p.Ile627Thr) c.1712T>C (p.Ile571Thr) c.2048T>C (p.Ile683Thr) c.2051T>C (p.Ile684Thr) c.1775T>C (p.Ile592Thr) c.1937T>C (p.Ile646Thr) c.2033T>C (p.Ile678Thr) n.452T>C c.1994T>C (p.Ile665Thr) c.1826T>C (p.Ile609Thr) | |
21 | g.25891828A>T | CA409805630 | APP | n.2072T>A n.502T>A n.771T>A c.2105T>A (p.Ile702Asn) c.1880T>A (p.Ile627Asn) c.1712T>A (p.Ile571Asn) c.2048T>A (p.Ile683Asn) c.2051T>A (p.Ile684Asn) c.1775T>A (p.Ile592Asn) c.1937T>A (p.Ile646Asn) c.2033T>A (p.Ile678Asn) n.452T>A c.1994T>A (p.Ile665Asn) c.1826T>A (p.Ile609Asn) | |
21 | g.25891829_25891833dup | CA2654122471 | APP | n.2068_2072dup n.498_502dup n.767_771dup c.2101_2105dup (p.Ile702MetfsTer13) c.1876_1880dup (p.Ile627MetfsTer13) c.1708_1712dup (p.Ile571MetfsTer13) c.2044_2048dup (p.Ile683MetfsTer13) c.2047_2051dup (p.Ile684MetfsTer13) c.1771_1775dup (p.Ile592MetfsTer13) c.1933_1937dup (p.Ile646MetfsTer13) c.2029_2033dup (p.Ile678MetfsTer13) n.448_452dup c.1990_1994dup (p.Ile665MetfsTer13) c.1822_1826dup (p.Ile609MetfsTer13) | gnomAD v4 |
21 | g.25891829T>A | CA409805631 | APP | n.2071A>T n.501A>T n.770A>T c.2104A>T (p.Ile702Phe) c.1879A>T (p.Ile627Phe) c.1711A>T (p.Ile571Phe) c.2047A>T (p.Ile683Phe) c.2050A>T (p.Ile684Phe) c.1774A>T (p.Ile592Phe) c.1936A>T (p.Ile646Phe) c.2032A>T (p.Ile678Phe) n.451A>T c.1993A>T (p.Ile665Phe) c.1825A>T (p.Ile609Phe) | |
21 | g.25891829T>C | CA9987061 | APP | n.2071A>G n.501A>G n.770A>G c.2104A>G (p.Ile702Val) c.1879A>G (p.Ile627Val) c.1711A>G (p.Ile571Val) c.2047A>G (p.Ile683Val) c.2050A>G (p.Ile684Val) c.1774A>G (p.Ile592Val) c.1936A>G (p.Ile646Val) c.2032A>G (p.Ile678Val) n.451A>G c.1993A>G (p.Ile665Val) c.1825A>G (p.Ile609Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.25891829T>G | CA409805632 | APP | n.2071A>C n.501A>C n.770A>C c.2104A>C (p.Ile702Leu) c.1879A>C (p.Ile627Leu) c.1711A>C (p.Ile571Leu) c.2047A>C (p.Ile683Leu) c.2050A>C (p.Ile684Leu) c.1774A>C (p.Ile592Leu) c.1936A>C (p.Ile646Leu) c.2032A>C (p.Ile678Leu) n.451A>C c.1993A>C (p.Ile665Leu) c.1825A>C (p.Ile609Leu) | |
21 | g.25891829T= | CA2383551635 | APP | n.2071A= n.501A= n.770A= c.2104A= (p.Ile702=) c.1879A= (p.Ile627=) c.1711A= (p.Ile571=) c.2047A= (p.Ile683=) c.2050A= (p.Ile684=) c.1774A= (p.Ile592=) c.1936A= (p.Ile646=) c.2032A= (p.Ile678=) n.451A= c.1993A= (p.Ile665=) c.1825A= (p.Ile609=) | |
21 | g.25891830T>A | CA511686030 | APP | n.2070A>T n.500A>T n.769A>T c.2103A>T (p.Ala701=) c.1878A>T (p.Ala626=) c.1710A>T (p.Ala570=) c.2046A>T (p.Ala682=) c.2049A>T (p.Ala683=) c.1773A>T (p.Ala591=) c.1935A>T (p.Ala645=) c.2031A>T (p.Ala677=) n.450A>T c.1992A>T (p.Ala664=) c.1824A>T (p.Ala608=) | |
21 | g.25891830T>C | CA511686028 | APP | n.2070A>G n.500A>G n.769A>G c.2103A>G (p.Ala701=) c.1878A>G (p.Ala626=) c.1710A>G (p.Ala570=) c.2046A>G (p.Ala682=) c.2049A>G (p.Ala683=) c.1773A>G (p.Ala591=) c.1935A>G (p.Ala645=) c.2031A>G (p.Ala677=) n.450A>G c.1992A>G (p.Ala664=) c.1824A>G (p.Ala608=) | |
21 | g.25891830T>G | CA511686029 | APP | n.2070A>C n.500A>C n.769A>C c.2103A>C (p.Ala701=) c.1878A>C (p.Ala626=) c.1710A>C (p.Ala570=) c.2046A>C (p.Ala682=) c.2049A>C (p.Ala683=) c.1773A>C (p.Ala591=) c.1935A>C (p.Ala645=) c.2031A>C (p.Ala677=) n.450A>C c.1992A>C (p.Ala664=) c.1824A>C (p.Ala608=) | dbSNP |
21 | g.25891830T= | CA2383551636 | APP | n.2070A= n.500A= n.769A= c.2103A= (p.Ala701=) c.1878A= (p.Ala626=) c.1710A= (p.Ala570=) c.2046A= (p.Ala682=) c.2049A= (p.Ala683=) c.1773A= (p.Ala591=) c.1935A= (p.Ala645=) c.2031A= (p.Ala677=) n.450A= c.1992A= (p.Ala664=) c.1824A= (p.Ala608=) | |
21 | g.25891831G>A | CA409805634 | APP | n.2069C>T n.499C>T n.768C>T c.2102C>T (p.Ala701Val) c.1877C>T (p.Ala626Val) c.1709C>T (p.Ala570Val) c.2045C>T (p.Ala682Val) c.2048C>T (p.Ala683Val) c.1772C>T (p.Ala591Val) c.1934C>T (p.Ala645Val) c.2030C>T (p.Ala677Val) n.449C>T c.1991C>T (p.Ala664Val) c.1823C>T (p.Ala608Val) | COSMIC |
21 | g.25891831G>C | CA409805635 | APP | n.2069C>G n.499C>G n.768C>G c.2102C>G (p.Ala701Gly) c.1877C>G (p.Ala626Gly) c.1709C>G (p.Ala570Gly) c.2045C>G (p.Ala682Gly) c.2048C>G (p.Ala683Gly) c.1772C>G (p.Ala591Gly) c.1934C>G (p.Ala645Gly) c.2030C>G (p.Ala677Gly) n.449C>G c.1991C>G (p.Ala664Gly) c.1823C>G (p.Ala608Gly) | |
21 | g.25891831G>T | CA409805633 | APP | n.2069C>A n.499C>A n.768C>A c.2102C>A (p.Ala701Glu) c.1877C>A (p.Ala626Glu) c.1709C>A (p.Ala570Glu) c.2045C>A (p.Ala682Glu) c.2048C>A (p.Ala683Glu) c.1772C>A (p.Ala591Glu) c.1934C>A (p.Ala645Glu) c.2030C>A (p.Ala677Glu) n.449C>A c.1991C>A (p.Ala664Glu) c.1823C>A (p.Ala608Glu) | gnomAD v4 |
21 | g.25891832C>A | CA409805636 | APP | n.2068G>T n.498G>T n.767G>T c.2101G>T (p.Ala701Ser) c.1876G>T (p.Ala626Ser) c.1708G>T (p.Ala570Ser) c.2044G>T (p.Ala682Ser) c.2047G>T (p.Ala683Ser) c.1771G>T (p.Ala591Ser) c.1933G>T (p.Ala645Ser) c.2029G>T (p.Ala677Ser) n.448G>T c.1990G>T (p.Ala664Ser) c.1822G>T (p.Ala608Ser) | |
21 | g.25891832C>G | CA409805637 | APP | n.2068G>C n.498G>C n.767G>C c.2101G>C (p.Ala701Pro) c.1876G>C (p.Ala626Pro) c.1708G>C (p.Ala570Pro) c.2044G>C (p.Ala682Pro) c.2047G>C (p.Ala683Pro) c.1771G>C (p.Ala591Pro) c.1933G>C (p.Ala645Pro) c.2029G>C (p.Ala677Pro) n.448G>C c.1990G>C (p.Ala664Pro) c.1822G>C (p.Ala608Pro) | |
21 | g.25891832C>T | CA409805638 | APP | n.2068G>A n.498G>A n.767G>A c.2101G>A (p.Ala701Thr) c.1876G>A (p.Ala626Thr) c.1708G>A (p.Ala570Thr) c.2044G>A (p.Ala682Thr) c.2047G>A (p.Ala683Thr) c.1771G>A (p.Ala591Thr) c.1933G>A (p.Ala645Thr) c.2029G>A (p.Ala677Thr) n.448G>A c.1990G>A (p.Ala664Thr) c.1822G>A (p.Ala608Thr) | gnomAD v4 |
21 | g.25891833A= | CA2383551637 | APP | n.2067T= n.497T= n.766T= c.2100T= (p.Gly700=) c.1875T= (p.Gly625=) c.1707T= (p.Gly569=) c.2043T= (p.Gly681=) c.2046T= (p.Gly682=) c.1770T= (p.Gly590=) c.1932T= (p.Gly644=) c.2028T= (p.Gly676=) n.447T= c.1989T= (p.Gly663=) c.1821T= (p.Gly607=) | |
21 | g.25891833A>C | CA511686031 | APP | n.2067T>G n.497T>G n.766T>G c.2100T>G (p.Gly700=) c.1875T>G (p.Gly625=) c.1707T>G (p.Gly569=) c.2043T>G (p.Gly681=) c.2046T>G (p.Gly682=) c.1770T>G (p.Gly590=) c.1932T>G (p.Gly644=) c.2028T>G (p.Gly676=) n.447T>G c.1989T>G (p.Gly663=) c.1821T>G (p.Gly607=) | |
21 | g.25891833A>G | CA511686032 | APP | n.2067T>C n.497T>C n.766T>C c.2100T>C (p.Gly700=) c.1875T>C (p.Gly625=) c.1707T>C (p.Gly569=) c.2043T>C (p.Gly681=) c.2046T>C (p.Gly682=) c.1770T>C (p.Gly590=) c.1932T>C (p.Gly644=) c.2028T>C (p.Gly676=) n.447T>C c.1989T>C (p.Gly663=) c.1821T>C (p.Gly607=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.25891833A>T | CA511686033 | APP | n.2067T>A n.497T>A n.766T>A c.2100T>A (p.Gly700=) c.1875T>A (p.Gly625=) c.1707T>A (p.Gly569=) c.2043T>A (p.Gly681=) c.2046T>A (p.Gly682=) c.1770T>A (p.Gly590=) c.1932T>A (p.Gly644=) c.2028T>A (p.Gly676=) n.447T>A c.1989T>A (p.Gly663=) c.1821T>A (p.Gly607=) | |
21 | g.25891834C>A | CA409805639 | APP | n.2066G>T n.496G>T n.765G>T c.2099G>T (p.Gly700Val) c.1874G>T (p.Gly625Val) c.1706G>T (p.Gly569Val) c.2042G>T (p.Gly681Val) c.2045G>T (p.Gly682Val) c.1769G>T (p.Gly590Val) c.1931G>T (p.Gly644Val) c.2027G>T (p.Gly676Val) n.446G>T c.1988G>T (p.Gly663Val) c.1820G>T (p.Gly607Val) | |
21 | g.25891834C>G | CA409805640 | APP | n.2066G>C n.496G>C n.765G>C c.2099G>C (p.Gly700Ala) c.1874G>C (p.Gly625Ala) c.1706G>C (p.Gly569Ala) c.2042G>C (p.Gly681Ala) c.2045G>C (p.Gly682Ala) c.1769G>C (p.Gly590Ala) c.1931G>C (p.Gly644Ala) c.2027G>C (p.Gly676Ala) n.446G>C c.1988G>C (p.Gly663Ala) c.1820G>C (p.Gly607Ala) | |
21 | g.25891834C>T | CA409805641 | APP | n.2066G>A n.496G>A n.765G>A c.2099G>A (p.Gly700Asp) c.1874G>A (p.Gly625Asp) c.1706G>A (p.Gly569Asp) c.2042G>A (p.Gly681Asp) c.2045G>A (p.Gly682Asp) c.1769G>A (p.Gly590Asp) c.1931G>A (p.Gly644Asp) c.2027G>A (p.Gly676Asp) n.446G>A c.1988G>A (p.Gly663Asp) c.1820G>A (p.Gly607Asp) | |
21 | g.25891835C>A | CA409805644 | APP | n.2065G>T n.495G>T n.764G>T c.2098G>T (p.Gly700Cys) c.1873G>T (p.Gly625Cys) c.1705G>T (p.Gly569Cys) c.2041G>T (p.Gly681Cys) c.2044G>T (p.Gly682Cys) c.1768G>T (p.Gly590Cys) c.1930G>T (p.Gly644Cys) c.2026G>T (p.Gly676Cys) n.445G>T c.1987G>T (p.Gly663Cys) c.1819G>T (p.Gly607Cys) | |
21 | g.25891835C>G | CA409805642 | APP | n.2065G>C n.495G>C n.764G>C c.2098G>C (p.Gly700Arg) c.1873G>C (p.Gly625Arg) c.1705G>C (p.Gly569Arg) c.2041G>C (p.Gly681Arg) c.2044G>C (p.Gly682Arg) c.1768G>C (p.Gly590Arg) c.1930G>C (p.Gly644Arg) c.2026G>C (p.Gly676Arg) n.445G>C c.1987G>C (p.Gly663Arg) c.1819G>C (p.Gly607Arg) | |
21 | g.25891835C>T | CA409805643 | APP | n.2065G>A n.495G>A n.764G>A c.2098G>A (p.Gly700Ser) c.1873G>A (p.Gly625Ser) c.1705G>A (p.Gly569Ser) c.2041G>A (p.Gly681Ser) c.2044G>A (p.Gly682Ser) c.1768G>A (p.Gly590Ser) c.1930G>A (p.Gly644Ser) c.2026G>A (p.Gly676Ser) n.445G>A c.1987G>A (p.Gly663Ser) c.1819G>A (p.Gly607Ser) | |
21 | g.25891836T>A | CA409805645 | APP | n.2064A>T n.494A>T n.763A>T c.2097A>T (p.Lys699Asn) c.1872A>T (p.Lys624Asn) c.1704A>T (p.Lys568Asn) c.2040A>T (p.Lys680Asn) c.2043A>T (p.Lys681Asn) c.1767A>T (p.Lys589Asn) c.1929A>T (p.Lys643Asn) c.2025A>T (p.Lys675Asn) n.444A>T c.1986A>T (p.Lys662Asn) c.1818A>T (p.Lys606Asn) | |
21 | g.25891836T>C | CA511686034 | APP | n.2064A>G n.494A>G n.763A>G c.2097A>G (p.Lys699=) c.1872A>G (p.Lys624=) c.1704A>G (p.Lys568=) c.2040A>G (p.Lys680=) c.2043A>G (p.Lys681=) c.1767A>G (p.Lys589=) c.1929A>G (p.Lys643=) c.2025A>G (p.Lys675=) n.444A>G c.1986A>G (p.Lys662=) c.1818A>G (p.Lys606=) | |
21 | g.25891836T>G | CA409805646 | APP | n.2064A>C n.494A>C n.763A>C c.2097A>C (p.Lys699Asn) c.1872A>C (p.Lys624Asn) c.1704A>C (p.Lys568Asn) c.2040A>C (p.Lys680Asn) c.2043A>C (p.Lys681Asn) c.1767A>C (p.Lys589Asn) c.1929A>C (p.Lys643Asn) c.2025A>C (p.Lys675Asn) n.444A>C c.1986A>C (p.Lys662Asn) c.1818A>C (p.Lys606Asn) | |
21 | g.25891837T>A | CA409805647 | APP | n.2063A>T n.493A>T n.762A>T c.2096A>T (p.Lys699Ile) c.1871A>T (p.Lys624Ile) c.1703A>T (p.Lys568Ile) c.2039A>T (p.Lys680Ile) c.2042A>T (p.Lys681Ile) c.1766A>T (p.Lys589Ile) c.1928A>T (p.Lys643Ile) c.2024A>T (p.Lys675Ile) n.443A>T c.1985A>T (p.Lys662Ile) c.1817A>T (p.Lys606Ile) | |
21 | g.25891837T>C | CA409805648 | APP | n.2063A>G n.493A>G n.762A>G c.2096A>G (p.Lys699Arg) c.1871A>G (p.Lys624Arg) c.1703A>G (p.Lys568Arg) c.2039A>G (p.Lys680Arg) c.2042A>G (p.Lys681Arg) c.1766A>G (p.Lys589Arg) c.1928A>G (p.Lys643Arg) c.2024A>G (p.Lys675Arg) n.443A>G c.1985A>G (p.Lys662Arg) c.1817A>G (p.Lys606Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.25891837T>G | CA409805649 | APP | n.2063A>C n.493A>C n.762A>C c.2096A>C (p.Lys699Thr) c.1871A>C (p.Lys624Thr) c.1703A>C (p.Lys568Thr) c.2039A>C (p.Lys680Thr) c.2042A>C (p.Lys681Thr) c.1766A>C (p.Lys589Thr) c.1928A>C (p.Lys643Thr) c.2024A>C (p.Lys675Thr) n.443A>C c.1985A>C (p.Lys662Thr) c.1817A>C (p.Lys606Thr) | |
21 | g.25891837T= | CA2383551638 | APP | n.2063A= n.493A= n.762A= c.2096A= (p.Lys699=) c.1871A= (p.Lys624=) c.1703A= (p.Lys568=) c.2039A= (p.Lys680=) c.2042A= (p.Lys681=) c.1766A= (p.Lys589=) c.1928A= (p.Lys643=) c.2024A= (p.Lys675=) n.443A= c.1985A= (p.Lys662=) c.1817A= (p.Lys606=) | |
21 | g.25891838T>A | CA409805650 | APP | n.2062A>T n.492A>T n.761A>T c.2095A>T (p.Lys699Ter) c.1870A>T (p.Lys624Ter) c.1702A>T (p.Lys568Ter) c.2038A>T (p.Lys680Ter) c.2041A>T (p.Lys681Ter) c.1765A>T (p.Lys589Ter) c.1927A>T (p.Lys643Ter) c.2023A>T (p.Lys675Ter) n.442A>T c.1984A>T (p.Lys662Ter) c.1816A>T (p.Lys606Ter) | |
21 | g.25891838T>C | CA409805652 | APP | n.2062A>G n.492A>G n.761A>G c.2095A>G (p.Lys699Glu) c.1870A>G (p.Lys624Glu) c.1702A>G (p.Lys568Glu) c.2038A>G (p.Lys680Glu) c.2041A>G (p.Lys681Glu) c.1765A>G (p.Lys589Glu) c.1927A>G (p.Lys643Glu) c.2023A>G (p.Lys675Glu) n.442A>G c.1984A>G (p.Lys662Glu) c.1816A>G (p.Lys606Glu) | gnomAD v4 |
21 | g.25891838T>G | CA409805651 | APP | n.2062A>C n.492A>C n.761A>C c.2095A>C (p.Lys699Gln) c.1870A>C (p.Lys624Gln) c.1702A>C (p.Lys568Gln) c.2038A>C (p.Lys680Gln) c.2041A>C (p.Lys681Gln) c.1765A>C (p.Lys589Gln) c.1927A>C (p.Lys643Gln) c.2023A>C (p.Lys675Gln) n.442A>C c.1984A>C (p.Lys662Gln) c.1816A>C (p.Lys606Gln) | |
21 | g.25891839G>A | CA511686035 | APP | n.2061C>T n.491C>T n.760C>T c.2094C>T (p.Asn698=) c.1869C>T (p.Asn623=) c.1701C>T (p.Asn567=) c.2037C>T (p.Asn679=) c.2040C>T (p.Asn680=) c.1764C>T (p.Asn588=) c.1926C>T (p.Asn642=) c.2022C>T (p.Asn674=) n.441C>T c.1983C>T (p.Asn661=) c.1815C>T (p.Asn605=) | |
21 | g.25891839G>C | CA409805653 | APP | n.2061C>G n.491C>G n.760C>G c.2094C>G (p.Asn698Lys) c.1869C>G (p.Asn623Lys) c.1701C>G (p.Asn567Lys) c.2037C>G (p.Asn679Lys) c.2040C>G (p.Asn680Lys) c.1764C>G (p.Asn588Lys) c.1926C>G (p.Asn642Lys) c.2022C>G (p.Asn674Lys) n.441C>G c.1983C>G (p.Asn661Lys) c.1815C>G (p.Asn605Lys) | gnomAD v4 |
21 | g.25891839G>T | CA409805654 | APP | n.2061C>A n.491C>A n.760C>A c.2094C>A (p.Asn698Lys) c.1869C>A (p.Asn623Lys) c.1701C>A (p.Asn567Lys) c.2037C>A (p.Asn679Lys) c.2040C>A (p.Asn680Lys) c.1764C>A (p.Asn588Lys) c.1926C>A (p.Asn642Lys) c.2022C>A (p.Asn674Lys) n.441C>A c.1983C>A (p.Asn661Lys) c.1815C>A (p.Asn605Lys) | |
21 | g.25891840T>A | CA409805655 | APP | n.2060A>T n.490A>T n.759A>T c.2093A>T (p.Asn698Ile) c.1868A>T (p.Asn623Ile) c.1700A>T (p.Asn567Ile) c.2036A>T (p.Asn679Ile) c.2039A>T (p.Asn680Ile) c.1763A>T (p.Asn588Ile) c.1925A>T (p.Asn642Ile) c.2021A>T (p.Asn674Ile) n.440A>T c.1982A>T (p.Asn661Ile) c.1814A>T (p.Asn605Ile) | |
21 | g.25891840T>C | CA409805656 | APP | n.2060A>G n.490A>G n.759A>G c.2093A>G (p.Asn698Ser) c.1868A>G (p.Asn623Ser) c.1700A>G (p.Asn567Ser) c.2036A>G (p.Asn679Ser) c.2039A>G (p.Asn680Ser) c.1763A>G (p.Asn588Ser) c.1925A>G (p.Asn642Ser) c.2021A>G (p.Asn674Ser) n.440A>G c.1982A>G (p.Asn661Ser) c.1814A>G (p.Asn605Ser) | |
21 | g.25891840T>G | CA409805657 | APP | n.2060A>C n.490A>C n.759A>C c.2093A>C (p.Asn698Thr) c.1868A>C (p.Asn623Thr) c.1700A>C (p.Asn567Thr) c.2036A>C (p.Asn679Thr) c.2039A>C (p.Asn680Thr) c.1763A>C (p.Asn588Thr) c.1925A>C (p.Asn642Thr) c.2021A>C (p.Asn674Thr) n.440A>C c.1982A>C (p.Asn661Thr) c.1814A>C (p.Asn605Thr) | |
21 | g.25891841T>A | CA409805658 | APP | n.2059A>T n.489A>T n.758A>T c.2092A>T (p.Asn698Tyr) c.1867A>T (p.Asn623Tyr) c.1699A>T (p.Asn567Tyr) c.2035A>T (p.Asn679Tyr) c.2038A>T (p.Asn680Tyr) c.1762A>T (p.Asn588Tyr) c.1924A>T (p.Asn642Tyr) c.2020A>T (p.Asn674Tyr) n.439A>T c.1981A>T (p.Asn661Tyr) c.1813A>T (p.Asn605Tyr) | |
21 | g.25891841T>C | CA409805659 | APP | n.2059A>G n.489A>G n.758A>G c.2092A>G (p.Asn698Asp) c.1867A>G (p.Asn623Asp) c.1699A>G (p.Asn567Asp) c.2035A>G (p.Asn679Asp) c.2038A>G (p.Asn680Asp) c.1762A>G (p.Asn588Asp) c.1924A>G (p.Asn642Asp) c.2020A>G (p.Asn674Asp) n.439A>G c.1981A>G (p.Asn661Asp) c.1813A>G (p.Asn605Asp) | |
21 | g.25891841T>G | CA409805660 | APP | n.2059A>C n.489A>C n.758A>C c.2092A>C (p.Asn698His) c.1867A>C (p.Asn623His) c.1699A>C (p.Asn567His) c.2035A>C (p.Asn679His) c.2038A>C (p.Asn680His) c.1762A>C (p.Asn588His) c.1924A>C (p.Asn642His) c.2020A>C (p.Asn674His) n.439A>C c.1981A>C (p.Asn661His) c.1813A>C (p.Asn605His) | |
21 | g.25891842T>A | CA511686038 | APP | n.2058A>T n.488A>T n.757A>T c.2091A>T (p.Ser697=) c.1866A>T (p.Ser622=) c.1698A>T (p.Ser566=) c.2034A>T (p.Ser678=) c.2037A>T (p.Ser679=) c.1761A>T (p.Ser587=) c.1923A>T (p.Ser641=) c.2019A>T (p.Ser673=) n.438A>T c.1980A>T (p.Ser660=) c.1812A>T (p.Ser604=) | |
21 | g.25891842T>C | CA511686036 | APP | n.2058A>G n.488A>G n.757A>G c.2091A>G (p.Ser697=) c.1866A>G (p.Ser622=) c.1698A>G (p.Ser566=) c.2034A>G (p.Ser678=) c.2037A>G (p.Ser679=) c.1761A>G (p.Ser587=) c.1923A>G (p.Ser641=) c.2019A>G (p.Ser673=) n.438A>G c.1980A>G (p.Ser660=) c.1812A>G (p.Ser604=) | |
21 | g.25891842T>G | CA511686037 | APP | n.2058A>C n.488A>C n.757A>C c.2091A>C (p.Ser697=) c.1866A>C (p.Ser622=) c.1698A>C (p.Ser566=) c.2034A>C (p.Ser678=) c.2037A>C (p.Ser679=) c.1761A>C (p.Ser587=) c.1923A>C (p.Ser641=) c.2019A>C (p.Ser673=) n.438A>C c.1980A>C (p.Ser660=) c.1812A>C (p.Ser604=) | |
21 | g.25891843G>A | CA409805661 | APP | n.2057C>T n.487C>T n.756C>T c.2090C>T (p.Ser697Leu) c.1865C>T (p.Ser622Leu) c.1697C>T (p.Ser566Leu) c.2033C>T (p.Ser678Leu) c.2036C>T (p.Ser679Leu) c.1760C>T (p.Ser587Leu) c.1922C>T (p.Ser641Leu) c.2018C>T (p.Ser673Leu) n.437C>T c.1979C>T (p.Ser660Leu) c.1811C>T (p.Ser604Leu) | |
21 | g.25891843G>C | CA409805662 | APP | n.2057C>G n.487C>G n.756C>G c.2090C>G (p.Ser697Ter) c.1865C>G (p.Ser622Ter) c.1697C>G (p.Ser566Ter) c.2033C>G (p.Ser678Ter) c.2036C>G (p.Ser679Ter) c.1760C>G (p.Ser587Ter) c.1922C>G (p.Ser641Ter) c.2018C>G (p.Ser673Ter) n.437C>G c.1979C>G (p.Ser660Ter) c.1811C>G (p.Ser604Ter) | |
21 | g.25891843G>T | CA409805663 | APP | n.2057C>A n.487C>A n.756C>A c.2090C>A (p.Ser697Ter) c.1865C>A (p.Ser622Ter) c.1697C>A (p.Ser566Ter) c.2033C>A (p.Ser678Ter) c.2036C>A (p.Ser679Ter) c.1760C>A (p.Ser587Ter) c.1922C>A (p.Ser641Ter) c.2018C>A (p.Ser673Ter) n.437C>A c.1979C>A (p.Ser660Ter) c.1811C>A (p.Ser604Ter) | |
21 | g.25891844A>C | CA409805666 | APP | n.2056T>G n.486T>G n.755T>G c.2089T>G (p.Ser697Ala) c.1864T>G (p.Ser622Ala) c.1696T>G (p.Ser566Ala) c.2032T>G (p.Ser678Ala) c.2035T>G (p.Ser679Ala) c.1759T>G (p.Ser587Ala) c.1921T>G (p.Ser641Ala) c.2017T>G (p.Ser673Ala) n.436T>G c.1978T>G (p.Ser660Ala) c.1810T>G (p.Ser604Ala) | |
21 | g.25891844A>G | CA409805665 | APP | n.2056T>C n.486T>C n.755T>C c.2089T>C (p.Ser697Pro) c.1864T>C (p.Ser622Pro) c.1696T>C (p.Ser566Pro) c.2032T>C (p.Ser678Pro) c.2035T>C (p.Ser679Pro) c.1759T>C (p.Ser587Pro) c.1921T>C (p.Ser641Pro) c.2017T>C (p.Ser673Pro) n.436T>C c.1978T>C (p.Ser660Pro) c.1810T>C (p.Ser604Pro) | |
21 | g.25891844A>T | CA409805664 | APP | n.2056T>A n.486T>A n.755T>A c.2089T>A (p.Ser697Thr) c.1864T>A (p.Ser622Thr) c.1696T>A (p.Ser566Thr) c.2032T>A (p.Ser678Thr) c.2035T>A (p.Ser679Thr) c.1759T>A (p.Ser587Thr) c.1921T>A (p.Ser641Thr) c.2017T>A (p.Ser673Thr) n.436T>A c.1978T>A (p.Ser660Thr) c.1810T>A (p.Ser604Thr) | |
21 | g.25891845A>C | CA511686039 | APP | n.2055T>G n.485T>G n.754T>G c.2088T>G (p.Gly696=) c.1863T>G (p.Gly621=) c.1695T>G (p.Gly565=) c.2031T>G (p.Gly677=) c.2034T>G (p.Gly678=) c.1758T>G (p.Gly586=) c.1920T>G (p.Gly640=) c.2016T>G (p.Gly672=) n.435T>G c.1977T>G (p.Gly659=) c.1809T>G (p.Gly603=) | |
21 | g.25891845A>G | CA511686040 | APP | n.2055T>C n.485T>C n.754T>C c.2088T>C (p.Gly696=) c.1863T>C (p.Gly621=) c.1695T>C (p.Gly565=) c.2031T>C (p.Gly677=) c.2034T>C (p.Gly678=) c.1758T>C (p.Gly586=) c.1920T>C (p.Gly640=) c.2016T>C (p.Gly672=) n.435T>C c.1977T>C (p.Gly659=) c.1809T>C (p.Gly603=) | |
21 | g.25891845A>T | CA511686041 | APP | n.2055T>A n.485T>A n.754T>A c.2088T>A (p.Gly696=) c.1863T>A (p.Gly621=) c.1695T>A (p.Gly565=) c.2031T>A (p.Gly677=) c.2034T>A (p.Gly678=) c.1758T>A (p.Gly586=) c.1920T>A (p.Gly640=) c.2016T>A (p.Gly672=) n.435T>A c.1977T>A (p.Gly659=) c.1809T>A (p.Gly603=) | |
21 | g.25891846C>A | CA409805667 | APP | n.2054G>T n.484G>T n.753G>T c.2087G>T (p.Gly696Val) c.1862G>T (p.Gly621Val) c.1694G>T (p.Gly565Val) c.2030G>T (p.Gly677Val) c.2033G>T (p.Gly678Val) c.1757G>T (p.Gly586Val) c.1919G>T (p.Gly640Val) c.2015G>T (p.Gly672Val) n.434G>T c.1976G>T (p.Gly659Val) c.1808G>T (p.Gly603Val) | |
21 | g.25891846C= | CA2383551639 | APP | n.2054G= n.484G= n.753G= c.2087G= (p.Gly696=) c.1862G= (p.Gly621=) c.1694G= (p.Gly565=) c.2030G= (p.Gly677=) c.2033G= (p.Gly678=) c.1757G= (p.Gly586=) c.1919G= (p.Gly640=) c.2015G= (p.Gly672=) n.434G= c.1976G= (p.Gly659=) c.1808G= (p.Gly603=) | |
21 | g.25891846C>G | CA409805669 | APP | n.2054G>C n.484G>C n.753G>C c.2087G>C (p.Gly696Ala) c.1862G>C (p.Gly621Ala) c.1694G>C (p.Gly565Ala) c.2030G>C (p.Gly677Ala) c.2033G>C (p.Gly678Ala) c.1757G>C (p.Gly586Ala) c.1919G>C (p.Gly640Ala) c.2015G>C (p.Gly672Ala) n.434G>C c.1976G>C (p.Gly659Ala) c.1808G>C (p.Gly603Ala) | |
21 | g.25891846C>T | CA409805668 | APP | n.2054G>A n.484G>A n.753G>A c.2087G>A (p.Gly696Asp) c.1862G>A (p.Gly621Asp) c.1694G>A (p.Gly565Asp) c.2030G>A (p.Gly677Asp) c.2033G>A (p.Gly678Asp) c.1757G>A (p.Gly586Asp) c.1919G>A (p.Gly640Asp) c.2015G>A (p.Gly672Asp) n.434G>A c.1976G>A (p.Gly659Asp) c.1808G>A (p.Gly603Asp) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.25891847C>A | CA409805670 | APP | n.2053G>T n.483G>T n.752G>T c.2086G>T (p.Gly696Cys) c.1861G>T (p.Gly621Cys) c.1693G>T (p.Gly565Cys) c.2029G>T (p.Gly677Cys) c.2032G>T (p.Gly678Cys) c.1756G>T (p.Gly586Cys) c.1918G>T (p.Gly640Cys) c.2014G>T (p.Gly672Cys) n.433G>T c.1975G>T (p.Gly659Cys) c.1807G>T (p.Gly603Cys) | |
21 | g.25891847C>G | CA409805672 | APP | n.2053G>C n.483G>C n.752G>C c.2086G>C (p.Gly696Arg) c.1861G>C (p.Gly621Arg) c.1693G>C (p.Gly565Arg) c.2029G>C (p.Gly677Arg) c.2032G>C (p.Gly678Arg) c.1756G>C (p.Gly586Arg) c.1918G>C (p.Gly640Arg) c.2014G>C (p.Gly672Arg) n.433G>C c.1975G>C (p.Gly659Arg) c.1807G>C (p.Gly603Arg) | |
21 | g.25891847C>T | CA409805671 | APP | n.2053G>A n.483G>A n.752G>A c.2086G>A (p.Gly696Ser) c.1861G>A (p.Gly621Ser) c.1693G>A (p.Gly565Ser) c.2029G>A (p.Gly677Ser) c.2032G>A (p.Gly678Ser) c.1756G>A (p.Gly586Ser) c.1918G>A (p.Gly640Ser) c.2014G>A (p.Gly672Ser) n.433G>A c.1975G>A (p.Gly659Ser) c.1807G>A (p.Gly603Ser) | ClinVar |
21 | g.25891848C>A | CA511686043 | APP | n.2052G>T n.482G>T n.751G>T c.2085G>T (p.Val695=) c.1860G>T (p.Val620=) c.1692G>T (p.Val564=) c.2028G>T (p.Val676=) c.2031G>T (p.Val677=) c.1755G>T (p.Val585=) c.1917G>T (p.Val639=) c.2013G>T (p.Val671=) n.432G>T c.1974G>T (p.Val658=) c.1806G>T (p.Val602=) | |
21 | g.25891848C>G | CA511686042 | APP | n.2052G>C n.482G>C n.751G>C c.2085G>C (p.Val695=) c.1860G>C (p.Val620=) c.1692G>C (p.Val564=) c.2028G>C (p.Val676=) c.2031G>C (p.Val677=) c.1755G>C (p.Val585=) c.1917G>C (p.Val639=) c.2013G>C (p.Val671=) n.432G>C c.1974G>C (p.Val658=) c.1806G>C (p.Val602=) | |
21 | g.25891848C>T | CA511686044 | APP | n.2052G>A n.482G>A n.751G>A c.2085G>A (p.Val695=) c.1860G>A (p.Val620=) c.1692G>A (p.Val564=) c.2028G>A (p.Val676=) c.2031G>A (p.Val677=) c.1755G>A (p.Val585=) c.1917G>A (p.Val639=) c.2013G>A (p.Val671=) n.432G>A c.1974G>A (p.Val658=) c.1806G>A (p.Val602=) | gnomAD v4 |
21 | g.25891851_25891868del | CA2695230061 | APP | n.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) | |
21 | g.25891849A= | CA2383551640 | APP | n.2051T= n.481T= n.750T= c.2084T= (p.Val695=) c.1859T= (p.Val620=) c.1691T= (p.Val564=) c.2027T= (p.Val676=) c.2030T= (p.Val677=) c.1754T= (p.Val585=) c.1916T= (p.Val639=) c.2012T= (p.Val671=) n.431T= c.1973T= (p.Val658=) c.1805T= (p.Val602=) | |
21 | g.25891849A>C | CA409805673 | APP | n.2051T>G n.481T>G n.750T>G c.2084T>G (p.Val695Gly) c.1859T>G (p.Val620Gly) c.1691T>G (p.Val564Gly) c.2027T>G (p.Val676Gly) c.2030T>G (p.Val677Gly) c.1754T>G (p.Val585Gly) c.1916T>G (p.Val639Gly) c.2012T>G (p.Val671Gly) n.431T>G c.1973T>G (p.Val658Gly) c.1805T>G (p.Val602Gly) | dbSNP gnomAD v2 |
21 | g.25891849A>G | CA409805675 | APP | n.2051T>C n.481T>C n.750T>C c.2084T>C (p.Val695Ala) c.1859T>C (p.Val620Ala) c.1691T>C (p.Val564Ala) c.2027T>C (p.Val676Ala) c.2030T>C (p.Val677Ala) c.1754T>C (p.Val585Ala) c.1916T>C (p.Val639Ala) c.2012T>C (p.Val671Ala) n.431T>C c.1973T>C (p.Val658Ala) c.1805T>C (p.Val602Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.25891849A>T | CA409805674 | APP | n.2051T>A n.481T>A n.750T>A c.2084T>A (p.Val695Glu) c.1859T>A (p.Val620Glu) c.1691T>A (p.Val564Glu) c.2027T>A (p.Val676Glu) c.2030T>A (p.Val677Glu) c.1754T>A (p.Val585Glu) c.1916T>A (p.Val639Glu) c.2012T>A (p.Val671Glu) n.431T>A c.1973T>A (p.Val658Glu) c.1805T>A (p.Val602Glu) | |
21 | g.25891850C>A | CA409805676 | APP | n.2050G>T n.480G>T n.749G>T c.2083G>T (p.Val695Leu) c.1858G>T (p.Val620Leu) c.1690G>T (p.Val564Leu) c.2026G>T (p.Val676Leu) c.2029G>T (p.Val677Leu) c.1753G>T (p.Val585Leu) c.1915G>T (p.Val639Leu) c.2011G>T (p.Val671Leu) n.430G>T c.1972G>T (p.Val658Leu) c.1804G>T (p.Val602Leu) | |
21 | g.25891850C= | CA2383551641 | APP | n.2050G= n.480G= n.749G= c.2083G= (p.Val695=) c.1858G= (p.Val620=) c.1690G= (p.Val564=) c.2026G= (p.Val676=) c.2029G= (p.Val677=) c.1753G= (p.Val585=) c.1915G= (p.Val639=) c.2011G= (p.Val671=) n.430G= c.1972G= (p.Val658=) c.1804G= (p.Val602=) | |
21 | g.25891850C>G | CA409805677 | APP | n.2050G>C n.480G>C n.749G>C c.2083G>C (p.Val695Leu) c.1858G>C (p.Val620Leu) c.1690G>C (p.Val564Leu) c.2026G>C (p.Val676Leu) c.2029G>C (p.Val677Leu) c.1753G>C (p.Val585Leu) c.1915G>C (p.Val639Leu) c.2011G>C (p.Val671Leu) n.430G>C c.1972G>C (p.Val658Leu) c.1804G>C (p.Val602Leu) | |
21 | g.25891850C>T | CA409805678 | APP | n.2050G>A n.480G>A n.749G>A c.2083G>A (p.Val695Met) c.1858G>A (p.Val620Met) c.1690G>A (p.Val564Met) c.2026G>A (p.Val676Met) c.2029G>A (p.Val677Met) c.1753G>A (p.Val585Met) c.1915G>A (p.Val639Met) c.2011G>A (p.Val671Met) n.430G>A c.1972G>A (p.Val658Met) c.1804G>A (p.Val602Met) | dbSNP gnomAD v4 |
21 | g.25891851A>C | CA409805679 | APP | n.2049T>G n.479T>G n.748T>G c.2082T>G (p.Asp694Glu) c.1857T>G (p.Asp619Glu) c.1689T>G (p.Asp563Glu) c.2025T>G (p.Asp675Glu) c.2028T>G (p.Asp676Glu) c.1752T>G (p.Asp584Glu) c.1914T>G (p.Asp638Glu) c.2010T>G (p.Asp670Glu) n.429T>G c.1971T>G (p.Asp657Glu) c.1803T>G (p.Asp601Glu) | gnomAD v4 |
21 | g.25891851A>G | CA511686045 | APP | n.2049T>C n.479T>C n.748T>C c.2082T>C (p.Asp694=) c.1857T>C (p.Asp619=) c.1689T>C (p.Asp563=) c.2025T>C (p.Asp675=) c.2028T>C (p.Asp676=) c.1752T>C (p.Asp584=) c.1914T>C (p.Asp638=) c.2010T>C (p.Asp670=) n.429T>C c.1971T>C (p.Asp657=) c.1803T>C (p.Asp601=) | |
21 | g.25891851A>T | CA409805680 | APP | n.2049T>A n.479T>A n.748T>A c.2082T>A (p.Asp694Glu) c.1857T>A (p.Asp619Glu) c.1689T>A (p.Asp563Glu) c.2025T>A (p.Asp675Glu) c.2028T>A (p.Asp676Glu) c.1752T>A (p.Asp584Glu) c.1914T>A (p.Asp638Glu) c.2010T>A (p.Asp670Glu) n.429T>A c.1971T>A (p.Asp657Glu) c.1803T>A (p.Asp601Glu) | |
21 | g.25891852T>A | CA409805681 | APP | n.2048A>T n.478A>T n.747A>T c.2081A>T (p.Asp694Val) c.1856A>T (p.Asp619Val) c.1688A>T (p.Asp563Val) c.2024A>T (p.Asp675Val) c.2027A>T (p.Asp676Val) c.1751A>T (p.Asp584Val) c.1913A>T (p.Asp638Val) c.2009A>T (p.Asp670Val) n.428A>T c.1970A>T (p.Asp657Val) c.1802A>T (p.Asp601Val) | |
21 | g.25891852T>C | CA409805682 | APP | n.2048A>G n.478A>G n.747A>G c.2081A>G (p.Asp694Gly) c.1856A>G (p.Asp619Gly) c.1688A>G (p.Asp563Gly) c.2024A>G (p.Asp675Gly) c.2027A>G (p.Asp676Gly) c.1751A>G (p.Asp584Gly) c.1913A>G (p.Asp638Gly) c.2009A>G (p.Asp670Gly) n.428A>G c.1970A>G (p.Asp657Gly) c.1802A>G (p.Asp601Gly) | |
21 | g.25891852T>G | CA409805683 | APP | n.2048A>C n.478A>C n.747A>C c.2081A>C (p.Asp694Ala) c.1856A>C (p.Asp619Ala) c.1688A>C (p.Asp563Ala) c.2024A>C (p.Asp675Ala) c.2027A>C (p.Asp676Ala) c.1751A>C (p.Asp584Ala) c.1913A>C (p.Asp638Ala) c.2009A>C (p.Asp670Ala) n.428A>C c.1970A>C (p.Asp657Ala) c.1802A>C (p.Asp601Ala) | |
21 | g.25891855_25891857del | CA2654122495 | APP | n.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 |
21 | g.25891853C>A | CA409805684 | APP | n.2047G>T n.477G>T n.746G>T c.2080G>T (p.Asp694Tyr) c.1855G>T (p.Asp619Tyr) c.1687G>T (p.Asp563Tyr) c.2023G>T (p.Asp675Tyr) c.2026G>T (p.Asp676Tyr) c.1750G>T (p.Asp584Tyr) c.1912G>T (p.Asp638Tyr) c.2008G>T (p.Asp670Tyr) n.427G>T c.1969G>T (p.Asp657Tyr) c.1801G>T (p.Asp601Tyr) | |
21 | g.25891853C= | CA2383551642 | APP | n.2047G= n.477G= n.746G= c.2080G= (p.Asp694=) c.1855G= (p.Asp619=) c.1687G= (p.Asp563=) c.2023G= (p.Asp675=) c.2026G= (p.Asp676=) c.1750G= (p.Asp584=) c.1912G= (p.Asp638=) c.2008G= (p.Asp670=) n.427G= c.1969G= (p.Asp657=) c.1801G= (p.Asp601=) | |
21 | g.25891853C>G | CA409805685 | APP | n.2047G>C n.477G>C n.746G>C c.2080G>C (p.Asp694His) c.1855G>C (p.Asp619His) c.1687G>C (p.Asp563His) c.2023G>C (p.Asp675His) c.2026G>C (p.Asp676His) c.1750G>C (p.Asp584His) c.1912G>C (p.Asp638His) c.2008G>C (p.Asp670His) n.427G>C c.1969G>C (p.Asp657His) c.1801G>C (p.Asp601His) | |
21 | g.25891853C>T | CA127804 | APP | n.2047G>A n.477G>A n.746G>A c.2080G>A (p.Asp694Asn) c.1855G>A (p.Asp619Asn) c.1687G>A (p.Asp563Asn) c.2023G>A (p.Asp675Asn) c.2026G>A (p.Asp676Asn) c.1750G>A (p.Asp584Asn) c.1912G>A (p.Asp638Asn) c.2008G>A (p.Asp670Asn) n.427G>A c.1969G>A (p.Asp657Asn) c.1801G>A (p.Asp601Asn) | ClinVar dbSNP gnomAD v4 |
21 | g.25891854T>A | CA9987062 | APP | n.2046A>T n.476A>T n.745A>T c.2079A>T (p.Glu693Asp) c.1854A>T (p.Glu618Asp) c.1686A>T (p.Glu562Asp) c.2022A>T (p.Glu674Asp) c.2025A>T (p.Glu675Asp) c.1749A>T (p.Glu583Asp) c.1911A>T (p.Glu637Asp) c.2007A>T (p.Glu669Asp) n.426A>T c.1968A>T (p.Glu656Asp) c.1800A>T (p.Glu600Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.25891854T>C | CA511686046 | APP | n.2046A>G n.476A>G n.745A>G c.2079A>G (p.Glu693=) c.1854A>G (p.Glu618=) c.1686A>G (p.Glu562=) c.2022A>G (p.Glu674=) c.2025A>G (p.Glu675=) c.1749A>G (p.Glu583=) c.1911A>G (p.Glu637=) c.2007A>G (p.Glu669=) n.426A>G c.1968A>G (p.Glu656=) c.1800A>G (p.Glu600=) | ClinVar dbSNP |
21 | g.25891854T>G | CA409805686 | APP | n.2046A>C n.476A>C n.745A>C c.2079A>C (p.Glu693Asp) c.1854A>C (p.Glu618Asp) c.1686A>C (p.Glu562Asp) c.2022A>C (p.Glu674Asp) c.2025A>C (p.Glu675Asp) c.1749A>C (p.Glu583Asp) c.1911A>C (p.Glu637Asp) c.2007A>C (p.Glu669Asp) n.426A>C c.1968A>C (p.Glu656Asp) c.1800A>C (p.Glu600Asp) | |
21 | g.25891854T= | CA2383551643 | APP | n.2046A= n.476A= n.745A= c.2079A= (p.Glu693=) c.1854A= (p.Glu618=) c.1686A= (p.Glu562=) c.2022A= (p.Glu674=) c.2025A= (p.Glu675=) c.1749A= (p.Glu583=) c.1911A= (p.Glu637=) c.2007A= (p.Glu669=) n.426A= c.1968A= (p.Glu656=) c.1800A= (p.Glu600=) | |
21 | g.25891855T>A | CA409805687 | APP | n.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) | |
21 | g.25891855T>C | CA127801 | APP | n.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 |
21 | g.25891855T>G | CA409805688 | APP | n.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) | |
21 | g.25891855T= | CA2383551644 | APP | n.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=) | |
21 | g.25891856C>A | CA409805689 | APP | n.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) | |
21 | g.25891856C= | CA2383551645 | APP | n.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=) | |
21 | g.25891856C>G | CA127790 | APP | n.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 |
21 | g.25891856C>T | CA127802 | APP | n.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 |
21 | g.25891857T>A | CA511686048 | APP | n.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=) | |
21 | g.25891857T>C | CA511686047 | APP | n.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=) | |
21 | g.25891857T>G | CA511686049 | APP | n.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 |
21 | g.25891857T= | CA2383551646 | APP | n.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=) | |
21 | g.25891858G>A | CA409805690 | APP | n.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) | |
21 | g.25891858G>C | CA127794 | APP | n.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 |
21 | g.25891858G= | CA2383551647 | APP | n.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=) | |
21 | g.25891858G>T | CA409805691 | APP | n.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 |