| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25897651_25897656del | CA2383554946 | APP | n.1949_1954del n.379_384del n.648_653del c.1982_1987del (p.Ile661_Lys662del) c.1757_1762del (p.Ile586_Lys587del) c.1589_1594del (p.Ile530_Lys531del) c.1925_1930del (p.Ile642_Lys643del) c.1928_1933del (p.Ile643_Lys644del) c.1652_1657del (p.Ile551_Lys552del) c.1814_1819del (p.Ile605_Lys606del) c.1910_1915del (p.Ile637_Lys638del) n.329_334del c.1871_1876del (p.Ile624_Lys625del) c.1703_1708del (p.Ile568_Lys569del) | dbSNP |
| 21 | g.25897656T>A | CA409806559 | APP | n.1948A>T n.378A>T n.647A>T c.1981A>T (p.Ile661Phe) c.1756A>T (p.Ile586Phe) c.1588A>T (p.Ile530Phe) c.1924A>T (p.Ile642Phe) c.1927A>T (p.Ile643Phe) c.1651A>T (p.Ile551Phe) c.1813A>T (p.Ile605Phe) c.1909A>T (p.Ile637Phe) n.328A>T c.1870A>T (p.Ile624Phe) c.1702A>T (p.Ile568Phe) | |
| 21 | g.25897656T>C | CA319103568 | APP | n.1948A>G n.378A>G n.647A>G c.1981A>G (p.Ile661Val) c.1756A>G (p.Ile586Val) c.1588A>G (p.Ile530Val) c.1924A>G (p.Ile642Val) c.1927A>G (p.Ile643Val) c.1651A>G (p.Ile551Val) c.1813A>G (p.Ile605Val) c.1909A>G (p.Ile637Val) n.328A>G c.1870A>G (p.Ile624Val) c.1702A>G (p.Ile568Val) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.25897656T>G | CA409806560 | APP | n.1948A>C n.378A>C n.647A>C c.1981A>C (p.Ile661Leu) c.1756A>C (p.Ile586Leu) c.1588A>C (p.Ile530Leu) c.1924A>C (p.Ile642Leu) c.1927A>C (p.Ile643Leu) c.1651A>C (p.Ile551Leu) c.1813A>C (p.Ile605Leu) c.1909A>C (p.Ile637Leu) n.328A>C c.1870A>C (p.Ile624Leu) c.1702A>C (p.Ile568Leu) | |
| 21 | g.25897656T= | CA2383554949 | APP | n.1948A= n.378A= n.647A= c.1981A= (p.Ile661=) c.1756A= (p.Ile586=) c.1588A= (p.Ile530=) c.1924A= (p.Ile642=) c.1927A= (p.Ile643=) c.1651A= (p.Ile551=) c.1813A= (p.Ile605=) c.1909A= (p.Ile637=) n.328A= c.1870A= (p.Ile624=) c.1702A= (p.Ile568=) | |
| 21 | g.25897657A= | CA2383554950 | APP | n.1947T= n.377T= n.646T= c.1980T= (p.Asn660=) c.1755T= (p.Asn585=) c.1587T= (p.Asn529=) c.1923T= (p.Asn641=) c.1926T= (p.Asn642=) c.1650T= (p.Asn550=) c.1812T= (p.Asn604=) c.1908T= (p.Asn636=) n.327T= c.1869T= (p.Asn623=) c.1701T= (p.Asn567=) | |
| 21 | g.25897657A>C | CA409806561 | APP | n.1947T>G n.377T>G n.646T>G c.1980T>G (p.Asn660Lys) c.1755T>G (p.Asn585Lys) c.1587T>G (p.Asn529Lys) c.1923T>G (p.Asn641Lys) c.1926T>G (p.Asn642Lys) c.1650T>G (p.Asn550Lys) c.1812T>G (p.Asn604Lys) c.1908T>G (p.Asn636Lys) n.327T>G c.1869T>G (p.Asn623Lys) c.1701T>G (p.Asn567Lys) | |
| 21 | g.25897657A>G | CA9987106 | APP | n.1947T>C n.377T>C n.646T>C c.1980T>C (p.Asn660=) c.1755T>C (p.Asn585=) c.1587T>C (p.Asn529=) c.1923T>C (p.Asn641=) c.1926T>C (p.Asn642=) c.1650T>C (p.Asn550=) c.1812T>C (p.Asn604=) c.1908T>C (p.Asn636=) n.327T>C c.1869T>C (p.Asn623=) c.1701T>C (p.Asn567=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.25897657A>T | CA409806562 | APP | n.1947T>A n.377T>A n.646T>A c.1980T>A (p.Asn660Lys) c.1755T>A (p.Asn585Lys) c.1587T>A (p.Asn529Lys) c.1923T>A (p.Asn641Lys) c.1926T>A (p.Asn642Lys) c.1650T>A (p.Asn550Lys) c.1812T>A (p.Asn604Lys) c.1908T>A (p.Asn636Lys) n.327T>A c.1869T>A (p.Asn623Lys) c.1701T>A (p.Asn567Lys) | |
| 21 | g.25897658T>A | CA409806563 | APP | n.1946A>T n.376A>T n.645A>T c.1979A>T (p.Asn660Ile) c.1754A>T (p.Asn585Ile) c.1586A>T (p.Asn529Ile) c.1922A>T (p.Asn641Ile) c.1925A>T (p.Asn642Ile) c.1649A>T (p.Asn550Ile) c.1811A>T (p.Asn604Ile) c.1907A>T (p.Asn636Ile) n.326A>T c.1868A>T (p.Asn623Ile) c.1700A>T (p.Asn567Ile) | |
| 21 | g.25897658T>C | CA409806564 | APP | n.1946A>G n.376A>G n.645A>G c.1979A>G (p.Asn660Ser) c.1754A>G (p.Asn585Ser) c.1586A>G (p.Asn529Ser) c.1922A>G (p.Asn641Ser) c.1925A>G (p.Asn642Ser) c.1649A>G (p.Asn550Ser) c.1811A>G (p.Asn604Ser) c.1907A>G (p.Asn636Ser) n.326A>G c.1868A>G (p.Asn623Ser) c.1700A>G (p.Asn567Ser) | ClinVar dbSNP |
| 21 | g.25897658T>G | CA409806565 | APP | n.1946A>C n.376A>C n.645A>C c.1979A>C (p.Asn660Thr) c.1754A>C (p.Asn585Thr) c.1586A>C (p.Asn529Thr) c.1922A>C (p.Asn641Thr) c.1925A>C (p.Asn642Thr) c.1649A>C (p.Asn550Thr) c.1811A>C (p.Asn604Thr) c.1907A>C (p.Asn636Thr) n.326A>C c.1868A>C (p.Asn623Thr) c.1700A>C (p.Asn567Thr) | dbSNP |
| 21 | g.25897658T= | CA2383554951 | APP | n.1946A= n.376A= n.645A= c.1979A= (p.Asn660=) c.1754A= (p.Asn585=) c.1586A= (p.Asn529=) c.1922A= (p.Asn641=) c.1925A= (p.Asn642=) c.1649A= (p.Asn550=) c.1811A= (p.Asn604=) c.1907A= (p.Asn636=) n.326A= c.1868A= (p.Asn623=) c.1700A= (p.Asn567=) | |
| 21 | g.25897659T>A | CA409806566 | APP | n.1945A>T n.375A>T n.644A>T c.1978A>T (p.Asn660Tyr) c.1753A>T (p.Asn585Tyr) c.1585A>T (p.Asn529Tyr) c.1921A>T (p.Asn641Tyr) c.1924A>T (p.Asn642Tyr) c.1648A>T (p.Asn550Tyr) c.1810A>T (p.Asn604Tyr) c.1906A>T (p.Asn636Tyr) n.325A>T c.1867A>T (p.Asn623Tyr) c.1699A>T (p.Asn567Tyr) | ClinVar dbSNP |
| 21 | g.25897659T>C | CA409806567 | APP | n.1945A>G n.375A>G n.644A>G c.1978A>G (p.Asn660Asp) c.1753A>G (p.Asn585Asp) c.1585A>G (p.Asn529Asp) c.1921A>G (p.Asn641Asp) c.1924A>G (p.Asn642Asp) c.1648A>G (p.Asn550Asp) c.1810A>G (p.Asn604Asp) c.1906A>G (p.Asn636Asp) n.325A>G c.1867A>G (p.Asn623Asp) c.1699A>G (p.Asn567Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.25897659T>G | CA9987107 | APP | n.1945A>C n.375A>C n.644A>C c.1978A>C (p.Asn660His) c.1753A>C (p.Asn585His) c.1585A>C (p.Asn529His) c.1921A>C (p.Asn641His) c.1924A>C (p.Asn642His) c.1648A>C (p.Asn550His) c.1810A>C (p.Asn604His) c.1906A>C (p.Asn636His) n.325A>C c.1867A>C (p.Asn623His) c.1699A>C (p.Asn567His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25897659T= | CA2383554952 | APP | n.1945A= n.375A= n.644A= c.1978A= (p.Asn660=) c.1753A= (p.Asn585=) c.1585A= (p.Asn529=) c.1921A= (p.Asn641=) c.1924A= (p.Asn642=) c.1648A= (p.Asn550=) c.1810A= (p.Asn604=) c.1906A= (p.Asn636=) n.325A= c.1867A= (p.Asn623=) c.1699A= (p.Asn567=) | |
| 21 | g.25897660T>A | CA511686361 | APP | n.1944A>T n.374A>T n.643A>T c.1977A>T (p.Thr659=) c.1752A>T (p.Thr584=) c.1584A>T (p.Thr528=) c.1920A>T (p.Thr640=) c.1923A>T (p.Thr641=) c.1647A>T (p.Thr549=) c.1809A>T (p.Thr603=) c.1905A>T (p.Thr635=) n.324A>T c.1866A>T (p.Thr622=) c.1698A>T (p.Thr566=) | |
| 21 | g.25897660T>C | CA511686368 | APP | n.1944A>G n.374A>G n.643A>G c.1977A>G (p.Thr659=) c.1752A>G (p.Thr584=) c.1584A>G (p.Thr528=) c.1920A>G (p.Thr640=) c.1923A>G (p.Thr641=) c.1647A>G (p.Thr549=) c.1809A>G (p.Thr603=) c.1905A>G (p.Thr635=) n.324A>G c.1866A>G (p.Thr622=) c.1698A>G (p.Thr566=) | |
| 21 | g.25897660T>G | CA511686359 | APP | n.1944A>C n.374A>C n.643A>C c.1977A>C (p.Thr659=) c.1752A>C (p.Thr584=) c.1584A>C (p.Thr528=) c.1920A>C (p.Thr640=) c.1923A>C (p.Thr641=) c.1647A>C (p.Thr549=) c.1809A>C (p.Thr603=) c.1905A>C (p.Thr635=) n.324A>C c.1866A>C (p.Thr622=) c.1698A>C (p.Thr566=) | |
| 21 | g.25897661G>A | CA409806568 | APP | n.1943C>T n.373C>T n.642C>T c.1976C>T (p.Thr659Ile) c.1751C>T (p.Thr584Ile) c.1583C>T (p.Thr528Ile) c.1919C>T (p.Thr640Ile) c.1922C>T (p.Thr641Ile) c.1646C>T (p.Thr549Ile) c.1808C>T (p.Thr603Ile) c.1904C>T (p.Thr635Ile) n.323C>T c.1865C>T (p.Thr622Ile) c.1697C>T (p.Thr566Ile) | |
| 21 | g.25897661G>C | CA409806569 | APP | n.1943C>G n.373C>G n.642C>G c.1976C>G (p.Thr659Arg) c.1751C>G (p.Thr584Arg) c.1583C>G (p.Thr528Arg) c.1919C>G (p.Thr640Arg) c.1922C>G (p.Thr641Arg) c.1646C>G (p.Thr549Arg) c.1808C>G (p.Thr603Arg) c.1904C>G (p.Thr635Arg) n.323C>G c.1865C>G (p.Thr622Arg) c.1697C>G (p.Thr566Arg) | |
| 21 | g.25897661G= | CA2383554953 | APP | n.1943C= n.373C= n.642C= c.1976C= (p.Thr659=) c.1751C= (p.Thr584=) c.1583C= (p.Thr528=) c.1919C= (p.Thr640=) c.1922C= (p.Thr641=) c.1646C= (p.Thr549=) c.1808C= (p.Thr603=) c.1904C= (p.Thr635=) n.323C= c.1865C= (p.Thr622=) c.1697C= (p.Thr566=) | |
| 21 | g.25897661G>T | CA409806570 | APP | n.1943C>A n.373C>A n.642C>A c.1976C>A (p.Thr659Lys) c.1751C>A (p.Thr584Lys) c.1583C>A (p.Thr528Lys) c.1919C>A (p.Thr640Lys) c.1922C>A (p.Thr641Lys) c.1646C>A (p.Thr549Lys) c.1808C>A (p.Thr603Lys) c.1904C>A (p.Thr635Lys) n.323C>A c.1865C>A (p.Thr622Lys) c.1697C>A (p.Thr566Lys) | dbSNP gnomAD v4 |
| 21 | g.25897662T>A | CA409806571 | APP | n.1942A>T n.372A>T n.641A>T c.1975A>T (p.Thr659Ser) c.1750A>T (p.Thr584Ser) c.1582A>T (p.Thr528Ser) c.1918A>T (p.Thr640Ser) c.1921A>T (p.Thr641Ser) c.1645A>T (p.Thr549Ser) c.1807A>T (p.Thr603Ser) c.1903A>T (p.Thr635Ser) n.322A>T c.1864A>T (p.Thr622Ser) c.1696A>T (p.Thr566Ser) | |
| 21 | g.25897662T>C | CA409806572 | APP | n.1942A>G n.372A>G n.641A>G c.1975A>G (p.Thr659Ala) c.1750A>G (p.Thr584Ala) c.1582A>G (p.Thr528Ala) c.1918A>G (p.Thr640Ala) c.1921A>G (p.Thr641Ala) c.1645A>G (p.Thr549Ala) c.1807A>G (p.Thr603Ala) c.1903A>G (p.Thr635Ala) n.322A>G c.1864A>G (p.Thr622Ala) c.1696A>G (p.Thr566Ala) | |
| 21 | g.25897662T>G | CA409806573 | APP | n.1942A>C n.372A>C n.641A>C c.1975A>C (p.Thr659Pro) c.1750A>C (p.Thr584Pro) c.1582A>C (p.Thr528Pro) c.1918A>C (p.Thr640Pro) c.1921A>C (p.Thr641Pro) c.1645A>C (p.Thr549Pro) c.1807A>C (p.Thr603Pro) c.1903A>C (p.Thr635Pro) n.322A>C c.1864A>C (p.Thr622Pro) c.1696A>C (p.Thr566Pro) | |
| 21 | g.25897663C>A | CA409806574 | APP | n.1941G>T n.371G>T n.640G>T c.1974G>T (p.Leu658Phe) c.1749G>T (p.Leu583Phe) c.1581G>T (p.Leu527Phe) c.1917G>T (p.Leu639Phe) c.1920G>T (p.Leu640Phe) c.1644G>T (p.Leu548Phe) c.1806G>T (p.Leu602Phe) c.1902G>T (p.Leu634Phe) n.321G>T c.1863G>T (p.Leu621Phe) c.1695G>T (p.Leu565Phe) | |
| 21 | g.25897663C= | CA2383554954 | APP | n.1941G= n.371G= n.640G= c.1974G= (p.Leu658=) c.1749G= (p.Leu583=) c.1581G= (p.Leu527=) c.1917G= (p.Leu639=) c.1920G= (p.Leu640=) c.1644G= (p.Leu548=) c.1806G= (p.Leu602=) c.1902G= (p.Leu634=) n.321G= c.1863G= (p.Leu621=) c.1695G= (p.Leu565=) | |
| 21 | g.25897663C>G | CA409806575 | APP | n.1941G>C n.371G>C n.640G>C c.1974G>C (p.Leu658Phe) c.1749G>C (p.Leu583Phe) c.1581G>C (p.Leu527Phe) c.1917G>C (p.Leu639Phe) c.1920G>C (p.Leu640Phe) c.1644G>C (p.Leu548Phe) c.1806G>C (p.Leu602Phe) c.1902G>C (p.Leu634Phe) n.321G>C c.1863G>C (p.Leu621Phe) c.1695G>C (p.Leu565Phe) | |
| 21 | g.25897663C>T | CA511686375 | APP | n.1941G>A n.371G>A n.640G>A c.1974G>A (p.Leu658=) c.1749G>A (p.Leu583=) c.1581G>A (p.Leu527=) c.1917G>A (p.Leu639=) c.1920G>A (p.Leu640=) c.1644G>A (p.Leu548=) c.1806G>A (p.Leu602=) c.1902G>A (p.Leu634=) n.321G>A c.1863G>A (p.Leu621=) c.1695G>A (p.Leu565=) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.25897664A>C | CA409806576 | APP | n.1940T>G n.370T>G n.639T>G c.1973T>G (p.Leu658Trp) c.1748T>G (p.Leu583Trp) c.1580T>G (p.Leu527Trp) c.1916T>G (p.Leu639Trp) c.1919T>G (p.Leu640Trp) c.1643T>G (p.Leu548Trp) c.1805T>G (p.Leu602Trp) c.1901T>G (p.Leu634Trp) n.320T>G c.1862T>G (p.Leu621Trp) c.1694T>G (p.Leu565Trp) | |
| 21 | g.25897664A>G | CA409806577 | APP | n.1940T>C n.370T>C n.639T>C c.1973T>C (p.Leu658Ser) c.1748T>C (p.Leu583Ser) c.1580T>C (p.Leu527Ser) c.1916T>C (p.Leu639Ser) c.1919T>C (p.Leu640Ser) c.1643T>C (p.Leu548Ser) c.1805T>C (p.Leu602Ser) c.1901T>C (p.Leu634Ser) n.320T>C c.1862T>C (p.Leu621Ser) c.1694T>C (p.Leu565Ser) | |
| 21 | g.25897664A>T | CA409806578 | APP | n.1940T>A n.370T>A n.639T>A c.1973T>A (p.Leu658Ter) c.1748T>A (p.Leu583Ter) c.1580T>A (p.Leu527Ter) c.1916T>A (p.Leu639Ter) c.1919T>A (p.Leu640Ter) c.1643T>A (p.Leu548Ter) c.1805T>A (p.Leu602Ter) c.1901T>A (p.Leu634Ter) n.320T>A c.1862T>A (p.Leu621Ter) c.1694T>A (p.Leu565Ter) | |
| 21 | g.25897665A>C | CA409806580 | APP | n.1939T>G n.369T>G n.638T>G c.1972T>G (p.Leu658Val) c.1747T>G (p.Leu583Val) c.1579T>G (p.Leu527Val) c.1915T>G (p.Leu639Val) c.1918T>G (p.Leu640Val) c.1642T>G (p.Leu548Val) c.1804T>G (p.Leu602Val) c.1900T>G (p.Leu634Val) n.319T>G c.1861T>G (p.Leu621Val) c.1693T>G (p.Leu565Val) | |
| 21 | g.25897665A>G | CA511686383 | APP | n.1939T>C n.369T>C n.638T>C c.1972T>C (p.Leu658=) c.1747T>C (p.Leu583=) c.1579T>C (p.Leu527=) c.1915T>C (p.Leu639=) c.1918T>C (p.Leu640=) c.1642T>C (p.Leu548=) c.1804T>C (p.Leu602=) c.1900T>C (p.Leu634=) n.319T>C c.1861T>C (p.Leu621=) c.1693T>C (p.Leu565=) | |
| 21 | g.25897665A>T | CA409806579 | APP | n.1939T>A n.369T>A n.638T>A c.1972T>A (p.Leu658Met) c.1747T>A (p.Leu583Met) c.1579T>A (p.Leu527Met) c.1915T>A (p.Leu639Met) c.1918T>A (p.Leu640Met) c.1642T>A (p.Leu548Met) c.1804T>A (p.Leu602Met) c.1900T>A (p.Leu634Met) n.319T>A c.1861T>A (p.Leu621Met) c.1693T>A (p.Leu565Met) | |
| 21 | g.25897666C>A | CA511686387 | APP | n.1938G>T n.368G>T n.637G>T c.1971G>T (p.Gly657=) c.1746G>T (p.Gly582=) c.1578G>T (p.Gly526=) c.1914G>T (p.Gly638=) c.1917G>T (p.Gly639=) c.1641G>T (p.Gly547=) c.1803G>T (p.Gly601=) c.1899G>T (p.Gly633=) n.318G>T c.1860G>T (p.Gly620=) c.1692G>T (p.Gly564=) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.25897666C= | CA2383554955 | APP | n.1938G= n.368G= n.637G= c.1971G= (p.Gly657=) c.1746G= (p.Gly582=) c.1578G= (p.Gly526=) c.1914G= (p.Gly638=) c.1917G= (p.Gly639=) c.1641G= (p.Gly547=) c.1803G= (p.Gly601=) c.1899G= (p.Gly633=) n.318G= c.1860G= (p.Gly620=) c.1692G= (p.Gly564=) | |
| 21 | g.25897666C>G | CA511686386 | APP | n.1938G>C n.368G>C n.637G>C c.1971G>C (p.Gly657=) c.1746G>C (p.Gly582=) c.1578G>C (p.Gly526=) c.1914G>C (p.Gly638=) c.1917G>C (p.Gly639=) c.1641G>C (p.Gly547=) c.1803G>C (p.Gly601=) c.1899G>C (p.Gly633=) n.318G>C c.1860G>C (p.Gly620=) c.1692G>C (p.Gly564=) | |
| 21 | g.25897666C>T | CA9987108 | APP | n.1938G>A n.368G>A n.637G>A c.1971G>A (p.Gly657=) c.1746G>A (p.Gly582=) c.1578G>A (p.Gly526=) c.1914G>A (p.Gly638=) c.1917G>A (p.Gly639=) c.1641G>A (p.Gly547=) c.1803G>A (p.Gly601=) c.1899G>A (p.Gly633=) n.318G>A c.1860G>A (p.Gly620=) c.1692G>A (p.Gly564=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25897667C>A | CA409806583 | APP | n.1937G>T n.367G>T n.636G>T c.1970G>T (p.Gly657Val) c.1745G>T (p.Gly582Val) c.1577G>T (p.Gly526Val) c.1913G>T (p.Gly638Val) c.1916G>T (p.Gly639Val) c.1640G>T (p.Gly547Val) c.1802G>T (p.Gly601Val) c.1898G>T (p.Gly633Val) n.317G>T c.1859G>T (p.Gly620Val) c.1691G>T (p.Gly564Val) | |
| 21 | g.25897667C= | CA2383554956 | APP | n.1937G= n.367G= n.636G= c.1970G= (p.Gly657=) c.1745G= (p.Gly582=) c.1577G= (p.Gly526=) c.1913G= (p.Gly638=) c.1916G= (p.Gly639=) c.1640G= (p.Gly547=) c.1802G= (p.Gly601=) c.1898G= (p.Gly633=) n.317G= c.1859G= (p.Gly620=) c.1691G= (p.Gly564=) | |
| 21 | g.25897667C>G | CA409806581 | APP | n.1937G>C n.367G>C n.636G>C c.1970G>C (p.Gly657Ala) c.1745G>C (p.Gly582Ala) c.1577G>C (p.Gly526Ala) c.1913G>C (p.Gly638Ala) c.1916G>C (p.Gly639Ala) c.1640G>C (p.Gly547Ala) c.1802G>C (p.Gly601Ala) c.1898G>C (p.Gly633Ala) n.317G>C c.1859G>C (p.Gly620Ala) c.1691G>C (p.Gly564Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.25897667C>T | CA409806582 | APP | n.1937G>A n.367G>A n.636G>A c.1970G>A (p.Gly657Glu) c.1745G>A (p.Gly582Glu) c.1577G>A (p.Gly526Glu) c.1913G>A (p.Gly638Glu) c.1916G>A (p.Gly639Glu) c.1640G>A (p.Gly547Glu) c.1802G>A (p.Gly601Glu) c.1898G>A (p.Gly633Glu) n.317G>A c.1859G>A (p.Gly620Glu) c.1691G>A (p.Gly564Glu) | |
| 21 | g.25897668C>A | CA409806584 | APP | n.1936G>T n.366G>T n.635G>T c.1969G>T (p.Gly657Trp) c.1744G>T (p.Gly582Trp) c.1576G>T (p.Gly526Trp) c.1912G>T (p.Gly638Trp) c.1915G>T (p.Gly639Trp) c.1639G>T (p.Gly547Trp) c.1801G>T (p.Gly601Trp) c.1897G>T (p.Gly633Trp) n.316G>T c.1858G>T (p.Gly620Trp) c.1690G>T (p.Gly564Trp) | |
| 21 | g.25897668C= | CA2383554957 | APP | n.1936G= n.366G= n.635G= c.1969G= (p.Gly657=) c.1744G= (p.Gly582=) c.1576G= (p.Gly526=) c.1912G= (p.Gly638=) c.1915G= (p.Gly639=) c.1639G= (p.Gly547=) c.1801G= (p.Gly601=) c.1897G= (p.Gly633=) n.316G= c.1858G= (p.Gly620=) c.1690G= (p.Gly564=) | |
| 21 | g.25897668C>G | CA409806585 | APP | n.1936G>C n.366G>C n.635G>C c.1969G>C (p.Gly657Arg) c.1744G>C (p.Gly582Arg) c.1576G>C (p.Gly526Arg) c.1912G>C (p.Gly638Arg) c.1915G>C (p.Gly639Arg) c.1639G>C (p.Gly547Arg) c.1801G>C (p.Gly601Arg) c.1897G>C (p.Gly633Arg) n.316G>C c.1858G>C (p.Gly620Arg) c.1690G>C (p.Gly564Arg) | |
| 21 | g.25897668C>T | CA409806586 | APP | n.1936G>A n.366G>A n.635G>A c.1969G>A (p.Gly657Arg) c.1744G>A (p.Gly582Arg) c.1576G>A (p.Gly526Arg) c.1912G>A (p.Gly638Arg) c.1915G>A (p.Gly639Arg) c.1639G>A (p.Gly547Arg) c.1801G>A (p.Gly601Arg) c.1897G>A (p.Gly633Arg) n.316G>A c.1858G>A (p.Gly620Arg) c.1690G>A (p.Gly564Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25897669A>C | CA511686400 | APP | n.1935T>G n.365T>G n.634T>G c.1968T>G (p.Ser656=) c.1743T>G (p.Ser581=) c.1575T>G (p.Ser525=) c.1911T>G (p.Ser637=) c.1914T>G (p.Ser638=) c.1638T>G (p.Ser546=) c.1800T>G (p.Ser600=) c.1896T>G (p.Ser632=) n.315T>G c.1857T>G (p.Ser619=) c.1689T>G (p.Ser563=) |