Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.25897641_25897644delinsTCTC | CA2383554940 | APP | n.1960_1963delinsGAGA n.390_393delinsGAGA n.659_662delinsGAGA c.1993_1996delinsGAGA (p.Glu665=) c.1768_1771delinsGAGA (p.Glu590=) c.1600_1603delinsGAGA (p.Glu534=) c.1936_1939delinsGAGA (p.Glu646=) c.1939_1942delinsGAGA (p.Glu647=) c.1663_1666delinsGAGA (p.Glu555=) c.1825_1828delinsGAGA (p.Glu609=) c.1921_1924delinsGAGA (p.Glu641=) n.340_343delinsGAGA c.1882_1885delinsGAGA (p.Glu628=) c.1714_1717delinsGAGA (p.Glu572=) | |
21 | g.25897646_25897648dup | CA748247763 | APP | n.1960_1962dup n.390_392dup n.659_661dup c.1993_1995dup (p.Glu665_Ile666insGlu) c.1768_1770dup (p.Glu590_Ile591insGlu) c.1600_1602dup (p.Glu534_Ile535insGlu) c.1936_1938dup (p.Glu646_Ile647insGlu) c.1939_1941dup (p.Glu647_Ile648insGlu) c.1663_1665dup (p.Glu555_Ile556insGlu) c.1825_1827dup (p.Glu609_Ile610insGlu) c.1921_1923dup (p.Glu641_Ile642insGlu) n.340_342dup c.1882_1884dup (p.Glu628_Ile629insGlu) c.1714_1716dup (p.Glu572_Ile573insGlu) | dbSNP gnomAD v4 |
21 | g.25897646_25897648del | CA9987101 | APP | n.1960_1962del n.390_392del n.659_661del c.1993_1995del (p.Glu665del) c.1768_1770del (p.Glu590del) c.1600_1602del (p.Glu534del) c.1936_1938del (p.Glu646del) c.1939_1941del (p.Glu647del) c.1663_1665del (p.Glu555del) c.1825_1827del (p.Glu609del) c.1921_1923del (p.Glu641del) n.340_342del c.1882_1884del (p.Glu628del) c.1714_1716del (p.Glu572del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.25897644C>A | CA409806525 | APP | n.1960G>T n.390G>T n.659G>T c.1993G>T (p.Glu665Ter) c.1768G>T (p.Glu590Ter) c.1600G>T (p.Glu534Ter) c.1936G>T (p.Glu646Ter) c.1939G>T (p.Glu647Ter) c.1663G>T (p.Glu555Ter) c.1825G>T (p.Glu609Ter) c.1921G>T (p.Glu641Ter) n.340G>T c.1882G>T (p.Glu628Ter) c.1714G>T (p.Glu572Ter) | |
21 | g.25897644C= | CA2383554942 | APP | n.1960G= n.390G= n.659G= c.1993G= (p.Glu665=) c.1768G= (p.Glu590=) c.1600G= (p.Glu534=) c.1936G= (p.Glu646=) c.1939G= (p.Glu647=) c.1663G= (p.Glu555=) c.1825G= (p.Glu609=) c.1921G= (p.Glu641=) n.340G= c.1882G= (p.Glu628=) c.1714G= (p.Glu572=) | |
21 | g.25897644C>G | CA409806523 | APP | n.1960G>C n.390G>C n.659G>C c.1993G>C (p.Glu665Gln) c.1768G>C (p.Glu590Gln) c.1600G>C (p.Glu534Gln) c.1936G>C (p.Glu646Gln) c.1939G>C (p.Glu647Gln) c.1663G>C (p.Glu555Gln) c.1825G>C (p.Glu609Gln) c.1921G>C (p.Glu641Gln) n.340G>C c.1882G>C (p.Glu628Gln) c.1714G>C (p.Glu572Gln) | |
21 | g.25897644C>T | CA9987102 | APP | n.1960G>A n.390G>A n.659G>A c.1993G>A (p.Glu665Lys) c.1768G>A (p.Glu590Lys) c.1600G>A (p.Glu534Lys) c.1936G>A (p.Glu646Lys) c.1939G>A (p.Glu647Lys) c.1663G>A (p.Glu555Lys) c.1825G>A (p.Glu609Lys) c.1921G>A (p.Glu641Lys) n.340G>A c.1882G>A (p.Glu628Lys) c.1714G>A (p.Glu572Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.25897645C>A | CA409806528 | APP | n.1959G>T n.389G>T n.658G>T c.1992G>T (p.Glu664Asp) c.1767G>T (p.Glu589Asp) c.1599G>T (p.Glu533Asp) c.1935G>T (p.Glu645Asp) c.1938G>T (p.Glu646Asp) c.1662G>T (p.Glu554Asp) c.1824G>T (p.Glu608Asp) c.1920G>T (p.Glu640Asp) n.339G>T c.1881G>T (p.Glu627Asp) c.1713G>T (p.Glu571Asp) | |
21 | g.25897645C>G | CA409806529 | APP | n.1959G>C n.389G>C n.658G>C c.1992G>C (p.Glu664Asp) c.1767G>C (p.Glu589Asp) c.1599G>C (p.Glu533Asp) c.1935G>C (p.Glu645Asp) c.1938G>C (p.Glu646Asp) c.1662G>C (p.Glu554Asp) c.1824G>C (p.Glu608Asp) c.1920G>C (p.Glu640Asp) n.339G>C c.1881G>C (p.Glu627Asp) c.1713G>C (p.Glu571Asp) | |
21 | g.25897645C>T | CA511686300 | APP | n.1959G>A n.389G>A n.658G>A c.1992G>A (p.Glu664=) c.1767G>A (p.Glu589=) c.1599G>A (p.Glu533=) c.1935G>A (p.Glu645=) c.1938G>A (p.Glu646=) c.1662G>A (p.Glu554=) c.1824G>A (p.Glu608=) c.1920G>A (p.Glu640=) n.339G>A c.1881G>A (p.Glu627=) c.1713G>A (p.Glu571=) | gnomAD v4 |
21 | g.25897646T>A | CA409806531 | APP | n.1958A>T n.388A>T n.657A>T c.1991A>T (p.Glu664Val) c.1766A>T (p.Glu589Val) c.1598A>T (p.Glu533Val) c.1934A>T (p.Glu645Val) c.1937A>T (p.Glu646Val) c.1661A>T (p.Glu554Val) c.1823A>T (p.Glu608Val) c.1919A>T (p.Glu640Val) n.338A>T c.1880A>T (p.Glu627Val) c.1712A>T (p.Glu571Val) | |
21 | g.25897646T>C | CA409806533 | APP | n.1958A>G n.388A>G n.657A>G c.1991A>G (p.Glu664Gly) c.1766A>G (p.Glu589Gly) c.1598A>G (p.Glu533Gly) c.1934A>G (p.Glu645Gly) c.1937A>G (p.Glu646Gly) c.1661A>G (p.Glu554Gly) c.1823A>G (p.Glu608Gly) c.1919A>G (p.Glu640Gly) n.338A>G c.1880A>G (p.Glu627Gly) c.1712A>G (p.Glu571Gly) | |
21 | g.25897646T>G | CA409806535 | APP | n.1958A>C n.388A>C n.657A>C c.1991A>C (p.Glu664Ala) c.1766A>C (p.Glu589Ala) c.1598A>C (p.Glu533Ala) c.1934A>C (p.Glu645Ala) c.1937A>C (p.Glu646Ala) c.1661A>C (p.Glu554Ala) c.1823A>C (p.Glu608Ala) c.1919A>C (p.Glu640Ala) n.338A>C c.1880A>C (p.Glu627Ala) c.1712A>C (p.Glu571Ala) | |
21 | g.25897647C>A | CA409806541 | APP | n.1957G>T n.387G>T n.656G>T c.1990G>T (p.Glu664Ter) c.1765G>T (p.Glu589Ter) c.1597G>T (p.Glu533Ter) c.1933G>T (p.Glu645Ter) c.1936G>T (p.Glu646Ter) c.1660G>T (p.Glu554Ter) c.1822G>T (p.Glu608Ter) c.1918G>T (p.Glu640Ter) n.337G>T c.1879G>T (p.Glu627Ter) c.1711G>T (p.Glu571Ter) | |
21 | g.25897647C>G | CA409806537 | APP | n.1957G>C n.387G>C n.656G>C c.1990G>C (p.Glu664Gln) c.1765G>C (p.Glu589Gln) c.1597G>C (p.Glu533Gln) c.1933G>C (p.Glu645Gln) c.1936G>C (p.Glu646Gln) c.1660G>C (p.Glu554Gln) c.1822G>C (p.Glu608Gln) c.1918G>C (p.Glu640Gln) n.337G>C c.1879G>C (p.Glu627Gln) c.1711G>C (p.Glu571Gln) | COSMIC |
21 | g.25897647C>T | CA409806540 | APP | n.1957G>A n.387G>A n.656G>A c.1990G>A (p.Glu664Lys) c.1765G>A (p.Glu589Lys) c.1597G>A (p.Glu533Lys) c.1933G>A (p.Glu645Lys) c.1936G>A (p.Glu646Lys) c.1660G>A (p.Glu554Lys) c.1822G>A (p.Glu608Lys) c.1918G>A (p.Glu640Lys) n.337G>A c.1879G>A (p.Glu627Lys) c.1711G>A (p.Glu571Lys) | |
21 | g.25897648C>A | CA511686315 | APP | n.1956G>T n.386G>T n.655G>T c.1989G>T (p.Thr663=) c.1764G>T (p.Thr588=) c.1596G>T (p.Thr532=) c.1932G>T (p.Thr644=) c.1935G>T (p.Thr645=) c.1659G>T (p.Thr553=) c.1821G>T (p.Thr607=) c.1917G>T (p.Thr639=) n.336G>T c.1878G>T (p.Thr626=) c.1710G>T (p.Thr570=) | |
21 | g.25897648C= | CA2383554943 | APP | n.1956G= n.386G= n.655G= c.1989G= (p.Thr663=) c.1764G= (p.Thr588=) c.1596G= (p.Thr532=) c.1932G= (p.Thr644=) c.1935G= (p.Thr645=) c.1659G= (p.Thr553=) c.1821G= (p.Thr607=) c.1917G= (p.Thr639=) n.336G= c.1878G= (p.Thr626=) c.1710G= (p.Thr570=) | |
21 | g.25897648C>G | CA9987103 | APP | n.1956G>C n.386G>C n.655G>C c.1989G>C (p.Thr663=) c.1764G>C (p.Thr588=) c.1596G>C (p.Thr532=) c.1932G>C (p.Thr644=) c.1935G>C (p.Thr645=) c.1659G>C (p.Thr553=) c.1821G>C (p.Thr607=) c.1917G>C (p.Thr639=) n.336G>C c.1878G>C (p.Thr626=) c.1710G>C (p.Thr570=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.25897648C>T | CA319103543 | APP | n.1956G>A n.386G>A n.655G>A c.1989G>A (p.Thr663=) c.1764G>A (p.Thr588=) c.1596G>A (p.Thr532=) c.1932G>A (p.Thr644=) c.1935G>A (p.Thr645=) c.1659G>A (p.Thr553=) c.1821G>A (p.Thr607=) c.1917G>A (p.Thr639=) n.336G>A c.1878G>A (p.Thr626=) c.1710G>A (p.Thr570=) | dbSNP gnomAD v4 |
21 | g.25897649G>A | CA9987104 | APP | n.1955C>T n.385C>T n.654C>T c.1988C>T (p.Thr663Met) c.1763C>T (p.Thr588Met) c.1595C>T (p.Thr532Met) c.1931C>T (p.Thr644Met) c.1934C>T (p.Thr645Met) c.1658C>T (p.Thr553Met) c.1820C>T (p.Thr607Met) c.1916C>T (p.Thr639Met) n.335C>T c.1877C>T (p.Thr626Met) c.1709C>T (p.Thr570Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.25897649G>C | CA409806542 | APP | n.1955C>G n.385C>G n.654C>G c.1988C>G (p.Thr663Arg) c.1763C>G (p.Thr588Arg) c.1595C>G (p.Thr532Arg) c.1931C>G (p.Thr644Arg) c.1934C>G (p.Thr645Arg) c.1658C>G (p.Thr553Arg) c.1820C>G (p.Thr607Arg) c.1916C>G (p.Thr639Arg) n.335C>G c.1877C>G (p.Thr626Arg) c.1709C>G (p.Thr570Arg) | |
21 | g.25897649G= | CA2383554944 | APP | n.1955C= n.385C= n.654C= c.1988C= (p.Thr663=) c.1763C= (p.Thr588=) c.1595C= (p.Thr532=) c.1931C= (p.Thr644=) c.1934C= (p.Thr645=) c.1658C= (p.Thr553=) c.1820C= (p.Thr607=) c.1916C= (p.Thr639=) n.335C= c.1877C= (p.Thr626=) c.1709C= (p.Thr570=) | |
21 | g.25897649G>T | CA409806544 | APP | n.1955C>A n.385C>A n.654C>A c.1988C>A (p.Thr663Lys) c.1763C>A (p.Thr588Lys) c.1595C>A (p.Thr532Lys) c.1931C>A (p.Thr644Lys) c.1934C>A (p.Thr645Lys) c.1658C>A (p.Thr553Lys) c.1820C>A (p.Thr607Lys) c.1916C>A (p.Thr639Lys) n.335C>A c.1877C>A (p.Thr626Lys) c.1709C>A (p.Thr570Lys) | |
21 | g.25897649_25897655delinsGTCTTGA | CA2383554945 | APP | n.1949_1955delinsTCAAGAC n.379_385delinsTCAAGAC n.648_654delinsTCAAGAC c.1982_1988delinsTCAAGAC (p.Ile661=) c.1757_1763delinsTCAAGAC (p.Ile586=) c.1589_1595delinsTCAAGAC (p.Ile530=) c.1925_1931delinsTCAAGAC (p.Ile642=) c.1928_1934delinsTCAAGAC (p.Ile643=) c.1652_1658delinsTCAAGAC (p.Ile551=) c.1814_1820delinsTCAAGAC (p.Ile605=) c.1910_1916delinsTCAAGAC (p.Ile637=) n.329_335delinsTCAAGAC c.1871_1877delinsTCAAGAC (p.Ile624=) c.1703_1709delinsTCAAGAC (p.Ile568=) | |
21 | g.25897650T>A | CA409806545 | APP | n.1954A>T n.384A>T n.653A>T c.1987A>T (p.Thr663Ser) c.1762A>T (p.Thr588Ser) c.1594A>T (p.Thr532Ser) c.1930A>T (p.Thr644Ser) c.1933A>T (p.Thr645Ser) c.1657A>T (p.Thr553Ser) c.1819A>T (p.Thr607Ser) c.1915A>T (p.Thr639Ser) n.334A>T c.1876A>T (p.Thr626Ser) c.1708A>T (p.Thr570Ser) | |
21 | g.25897650T>C | CA409806546 | APP | n.1954A>G n.384A>G n.653A>G c.1987A>G (p.Thr663Ala) c.1762A>G (p.Thr588Ala) c.1594A>G (p.Thr532Ala) c.1930A>G (p.Thr644Ala) c.1933A>G (p.Thr645Ala) c.1657A>G (p.Thr553Ala) c.1819A>G (p.Thr607Ala) c.1915A>G (p.Thr639Ala) n.334A>G c.1876A>G (p.Thr626Ala) c.1708A>G (p.Thr570Ala) | gnomAD v4 |
21 | g.25897650T>G | CA409806547 | APP | n.1954A>C n.384A>C n.653A>C c.1987A>C (p.Thr663Pro) c.1762A>C (p.Thr588Pro) c.1594A>C (p.Thr532Pro) c.1930A>C (p.Thr644Pro) c.1933A>C (p.Thr645Pro) c.1657A>C (p.Thr553Pro) c.1819A>C (p.Thr607Pro) c.1915A>C (p.Thr639Pro) n.334A>C c.1876A>C (p.Thr626Pro) c.1708A>C (p.Thr570Pro) | |
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.25897651C>A | CA409806548 | APP | n.1953G>T n.383G>T n.652G>T c.1986G>T (p.Lys662Asn) c.1761G>T (p.Lys587Asn) c.1593G>T (p.Lys531Asn) c.1929G>T (p.Lys643Asn) c.1932G>T (p.Lys644Asn) c.1656G>T (p.Lys552Asn) c.1818G>T (p.Lys606Asn) c.1914G>T (p.Lys638Asn) n.333G>T c.1875G>T (p.Lys625Asn) c.1707G>T (p.Lys569Asn) | |
21 | g.25897651C>G | CA409806549 | APP | n.1953G>C n.383G>C n.652G>C c.1986G>C (p.Lys662Asn) c.1761G>C (p.Lys587Asn) c.1593G>C (p.Lys531Asn) c.1929G>C (p.Lys643Asn) c.1932G>C (p.Lys644Asn) c.1656G>C (p.Lys552Asn) c.1818G>C (p.Lys606Asn) c.1914G>C (p.Lys638Asn) n.333G>C c.1875G>C (p.Lys625Asn) c.1707G>C (p.Lys569Asn) | |
21 | g.25897651C>T | CA511686327 | APP | n.1953G>A n.383G>A n.652G>A c.1986G>A (p.Lys662=) c.1761G>A (p.Lys587=) c.1593G>A (p.Lys531=) c.1929G>A (p.Lys643=) c.1932G>A (p.Lys644=) c.1656G>A (p.Lys552=) c.1818G>A (p.Lys606=) c.1914G>A (p.Lys638=) n.333G>A c.1875G>A (p.Lys625=) c.1707G>A (p.Lys569=) | |
21 | g.25897652T>A | CA409806550 | APP | n.1952A>T n.382A>T n.651A>T c.1985A>T (p.Lys662Met) c.1760A>T (p.Lys587Met) c.1592A>T (p.Lys531Met) c.1928A>T (p.Lys643Met) c.1931A>T (p.Lys644Met) c.1655A>T (p.Lys552Met) c.1817A>T (p.Lys606Met) c.1913A>T (p.Lys638Met) n.332A>T c.1874A>T (p.Lys625Met) c.1706A>T (p.Lys569Met) | |
21 | g.25897652T>C | CA409806551 | APP | n.1952A>G n.382A>G n.651A>G c.1985A>G (p.Lys662Arg) c.1760A>G (p.Lys587Arg) c.1592A>G (p.Lys531Arg) c.1928A>G (p.Lys643Arg) c.1931A>G (p.Lys644Arg) c.1655A>G (p.Lys552Arg) c.1817A>G (p.Lys606Arg) c.1913A>G (p.Lys638Arg) n.332A>G c.1874A>G (p.Lys625Arg) c.1706A>G (p.Lys569Arg) | |
21 | g.25897652T>G | CA409806552 | APP | n.1952A>C n.382A>C n.651A>C c.1985A>C (p.Lys662Thr) c.1760A>C (p.Lys587Thr) c.1592A>C (p.Lys531Thr) c.1928A>C (p.Lys643Thr) c.1931A>C (p.Lys644Thr) c.1655A>C (p.Lys552Thr) c.1817A>C (p.Lys606Thr) c.1913A>C (p.Lys638Thr) n.332A>C c.1874A>C (p.Lys625Thr) c.1706A>C (p.Lys569Thr) | |
21 | g.25897653T>A | CA409806553 | APP | n.1951A>T n.381A>T n.650A>T c.1984A>T (p.Lys662Ter) c.1759A>T (p.Lys587Ter) c.1591A>T (p.Lys531Ter) c.1927A>T (p.Lys643Ter) c.1930A>T (p.Lys644Ter) c.1654A>T (p.Lys552Ter) c.1816A>T (p.Lys606Ter) c.1912A>T (p.Lys638Ter) n.331A>T c.1873A>T (p.Lys625Ter) c.1705A>T (p.Lys569Ter) | |
21 | g.25897653T>C | CA409806555 | APP | n.1951A>G n.381A>G n.650A>G c.1984A>G (p.Lys662Glu) c.1759A>G (p.Lys587Glu) c.1591A>G (p.Lys531Glu) c.1927A>G (p.Lys643Glu) c.1930A>G (p.Lys644Glu) c.1654A>G (p.Lys552Glu) c.1816A>G (p.Lys606Glu) c.1912A>G (p.Lys638Glu) n.331A>G c.1873A>G (p.Lys625Glu) c.1705A>G (p.Lys569Glu) | |
21 | g.25897653T>G | CA409806554 | APP | n.1951A>C n.381A>C n.650A>C c.1984A>C (p.Lys662Gln) c.1759A>C (p.Lys587Gln) c.1591A>C (p.Lys531Gln) c.1927A>C (p.Lys643Gln) c.1930A>C (p.Lys644Gln) c.1654A>C (p.Lys552Gln) c.1816A>C (p.Lys606Gln) c.1912A>C (p.Lys638Gln) n.331A>C c.1873A>C (p.Lys625Gln) c.1705A>C (p.Lys569Gln) | |
21 | g.25897654G>A | CA511686342 | APP | n.1950C>T n.380C>T n.649C>T c.1983C>T (p.Ile661=) c.1758C>T (p.Ile586=) c.1590C>T (p.Ile530=) c.1926C>T (p.Ile642=) c.1929C>T (p.Ile643=) c.1653C>T (p.Ile551=) c.1815C>T (p.Ile605=) c.1911C>T (p.Ile637=) n.330C>T c.1872C>T (p.Ile624=) c.1704C>T (p.Ile568=) | dbSNP |
21 | g.25897654G>C | CA409806556 | APP | n.1950C>G n.380C>G n.649C>G c.1983C>G (p.Ile661Met) c.1758C>G (p.Ile586Met) c.1590C>G (p.Ile530Met) c.1926C>G (p.Ile642Met) c.1929C>G (p.Ile643Met) c.1653C>G (p.Ile551Met) c.1815C>G (p.Ile605Met) c.1911C>G (p.Ile637Met) n.330C>G c.1872C>G (p.Ile624Met) c.1704C>G (p.Ile568Met) | |
21 | g.25897654G= | CA2383554947 | APP | n.1950C= n.380C= n.649C= c.1983C= (p.Ile661=) c.1758C= (p.Ile586=) c.1590C= (p.Ile530=) c.1926C= (p.Ile642=) c.1929C= (p.Ile643=) c.1653C= (p.Ile551=) c.1815C= (p.Ile605=) c.1911C= (p.Ile637=) n.330C= c.1872C= (p.Ile624=) c.1704C= (p.Ile568=) | |
21 | g.25897654G>T | CA511686341 | APP | n.1950C>A n.380C>A n.649C>A c.1983C>A (p.Ile661=) c.1758C>A (p.Ile586=) c.1590C>A (p.Ile530=) c.1926C>A (p.Ile642=) c.1929C>A (p.Ile643=) c.1653C>A (p.Ile551=) c.1815C>A (p.Ile605=) c.1911C>A (p.Ile637=) n.330C>A c.1872C>A (p.Ile624=) c.1704C>A (p.Ile568=) | |
21 | g.25897655A= | CA2383554948 | APP | n.1949T= n.379T= n.648T= c.1982T= (p.Ile661=) c.1757T= (p.Ile586=) c.1589T= (p.Ile530=) c.1925T= (p.Ile642=) c.1928T= (p.Ile643=) c.1652T= (p.Ile551=) c.1814T= (p.Ile605=) c.1910T= (p.Ile637=) n.329T= c.1871T= (p.Ile624=) c.1703T= (p.Ile568=) | |
21 | g.25897655A>C | CA409806557 | APP | n.1949T>G n.379T>G n.648T>G c.1982T>G (p.Ile661Ser) c.1757T>G (p.Ile586Ser) c.1589T>G (p.Ile530Ser) c.1925T>G (p.Ile642Ser) c.1928T>G (p.Ile643Ser) c.1652T>G (p.Ile551Ser) c.1814T>G (p.Ile605Ser) c.1910T>G (p.Ile637Ser) n.329T>G c.1871T>G (p.Ile624Ser) c.1703T>G (p.Ile568Ser) | gnomAD v4 |
21 | g.25897655A>G | CA9987105 | APP | n.1949T>C n.379T>C n.648T>C c.1982T>C (p.Ile661Thr) c.1757T>C (p.Ile586Thr) c.1589T>C (p.Ile530Thr) c.1925T>C (p.Ile642Thr) c.1928T>C (p.Ile643Thr) c.1652T>C (p.Ile551Thr) c.1814T>C (p.Ile605Thr) c.1910T>C (p.Ile637Thr) n.329T>C c.1871T>C (p.Ile624Thr) c.1703T>C (p.Ile568Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.25897655A>T | CA409806558 | APP | n.1949T>A n.379T>A n.648T>A c.1982T>A (p.Ile661Asn) c.1757T>A (p.Ile586Asn) c.1589T>A (p.Ile530Asn) c.1925T>A (p.Ile642Asn) c.1928T>A (p.Ile643Asn) c.1652T>A (p.Ile551Asn) c.1814T>A (p.Ile605Asn) c.1910T>A (p.Ile637Asn) n.329T>A c.1871T>A (p.Ile624Asn) c.1703T>A (p.Ile568Asn) | |
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=) |