UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25897614_25897621del | CA2654123338 | APP | n.1984_1991del n.414_421del n.683_690del c.2017_2024del (p.Ala673ProfsTer3) c.1792_1799del (p.Ala598ProfsTer3) c.1624_1631del (p.Ala542ProfsTer3) c.1960_1967del (p.Ala654ProfsTer3) c.1963_1970del (p.Ala655ProfsTer3) c.1687_1694del (p.Ala563ProfsTer3) c.1849_1856del (p.Ala617ProfsTer3) c.1945_1952del (p.Ala649ProfsTer3) n.364_371del c.1906_1913del (p.Ala636ProfsTer3) c.1738_1745del (p.Ala580ProfsTer3) | gnomAD v4 |
| 21 | g.25897614A= | CA2383554920 | APP | n.1990T= n.420T= n.689T= c.2023T= (p.Phe675=) c.1798T= (p.Phe600=) c.1630T= (p.Phe544=) c.1966T= (p.Phe656=) c.1969T= (p.Phe657=) c.1693T= (p.Phe565=) c.1855T= (p.Phe619=) c.1951T= (p.Phe651=) n.370T= c.1912T= (p.Phe638=) c.1744T= (p.Phe582=) | |
| 21 | g.25897614A>C | CA409806389 | APP | n.1990T>G n.420T>G n.689T>G c.2023T>G (p.Phe675Val) c.1798T>G (p.Phe600Val) c.1630T>G (p.Phe544Val) c.1966T>G (p.Phe656Val) c.1969T>G (p.Phe657Val) c.1693T>G (p.Phe565Val) c.1855T>G (p.Phe619Val) c.1951T>G (p.Phe651Val) n.370T>G c.1912T>G (p.Phe638Val) c.1744T>G (p.Phe582Val) | |
| 21 | g.25897614A>G | CA409806391 | APP | n.1990T>C n.420T>C n.689T>C c.2023T>C (p.Phe675Leu) c.1798T>C (p.Phe600Leu) c.1630T>C (p.Phe544Leu) c.1966T>C (p.Phe656Leu) c.1969T>C (p.Phe657Leu) c.1693T>C (p.Phe565Leu) c.1855T>C (p.Phe619Leu) c.1951T>C (p.Phe651Leu) n.370T>C c.1912T>C (p.Phe638Leu) c.1744T>C (p.Phe582Leu) | |
| 21 | g.25897614A>T | CA9987093 | APP | n.1990T>A n.420T>A n.689T>A c.2023T>A (p.Phe675Ile) c.1798T>A (p.Phe600Ile) c.1630T>A (p.Phe544Ile) c.1966T>A (p.Phe656Ile) c.1969T>A (p.Phe657Ile) c.1693T>A (p.Phe565Ile) c.1855T>A (p.Phe619Ile) c.1951T>A (p.Phe651Ile) n.370T>A c.1912T>A (p.Phe638Ile) c.1744T>A (p.Phe582Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.25897615T>A | CA409806394 | APP | n.1989A>T n.419A>T n.688A>T c.2022A>T (p.Glu674Asp) c.1797A>T (p.Glu599Asp) c.1629A>T (p.Glu543Asp) c.1965A>T (p.Glu655Asp) c.1968A>T (p.Glu656Asp) c.1692A>T (p.Glu564Asp) c.1854A>T (p.Glu618Asp) c.1950A>T (p.Glu650Asp) n.369A>T c.1911A>T (p.Glu637Asp) c.1743A>T (p.Glu581Asp) | |
| 21 | g.25897615T>C | CA319103431 | APP | n.1989A>G n.419A>G n.688A>G c.2022A>G (p.Glu674=) c.1797A>G (p.Glu599=) c.1629A>G (p.Glu543=) c.1965A>G (p.Glu655=) c.1968A>G (p.Glu656=) c.1692A>G (p.Glu564=) c.1854A>G (p.Glu618=) c.1950A>G (p.Glu650=) n.369A>G c.1911A>G (p.Glu637=) c.1743A>G (p.Glu581=) | dbSNP |
| 21 | g.25897615T>G | CA409806396 | APP | n.1989A>C n.419A>C n.688A>C c.2022A>C (p.Glu674Asp) c.1797A>C (p.Glu599Asp) c.1629A>C (p.Glu543Asp) c.1965A>C (p.Glu655Asp) c.1968A>C (p.Glu656Asp) c.1692A>C (p.Glu564Asp) c.1854A>C (p.Glu618Asp) c.1950A>C (p.Glu650Asp) n.369A>C c.1911A>C (p.Glu637Asp) c.1743A>C (p.Glu581Asp) | |
| 21 | g.25897615T= | CA2383554921 | APP | n.1989A= n.419A= n.688A= c.2022A= (p.Glu674=) c.1797A= (p.Glu599=) c.1629A= (p.Glu543=) c.1965A= (p.Glu655=) c.1968A= (p.Glu656=) c.1692A= (p.Glu564=) c.1854A= (p.Glu618=) c.1950A= (p.Glu650=) n.369A= c.1911A= (p.Glu637=) c.1743A= (p.Glu581=) | |
| 21 | g.25897616T>A | CA409806399 | APP | n.1988A>T n.418A>T n.687A>T c.2021A>T (p.Glu674Val) c.1796A>T (p.Glu599Val) c.1628A>T (p.Glu543Val) c.1964A>T (p.Glu655Val) c.1967A>T (p.Glu656Val) c.1691A>T (p.Glu564Val) c.1853A>T (p.Glu618Val) c.1949A>T (p.Glu650Val) n.368A>T c.1910A>T (p.Glu637Val) c.1742A>T (p.Glu581Val) | |
| 21 | g.25897616T>C | CA409806402 | APP | n.1988A>G n.418A>G n.687A>G c.2021A>G (p.Glu674Gly) c.1796A>G (p.Glu599Gly) c.1628A>G (p.Glu543Gly) c.1964A>G (p.Glu655Gly) c.1967A>G (p.Glu656Gly) c.1691A>G (p.Glu564Gly) c.1853A>G (p.Glu618Gly) c.1949A>G (p.Glu650Gly) n.368A>G c.1910A>G (p.Glu637Gly) c.1742A>G (p.Glu581Gly) | dbSNP gnomAD v4 |
| 21 | g.25897616T>G | CA409806401 | APP | n.1988A>C n.418A>C n.687A>C c.2021A>C (p.Glu674Ala) c.1796A>C (p.Glu599Ala) c.1628A>C (p.Glu543Ala) c.1964A>C (p.Glu655Ala) c.1967A>C (p.Glu656Ala) c.1691A>C (p.Glu564Ala) c.1853A>C (p.Glu618Ala) c.1949A>C (p.Glu650Ala) n.368A>C c.1910A>C (p.Glu637Ala) c.1742A>C (p.Glu581Ala) | |
| 21 | g.25897616T= | CA2383554922 | APP | n.1988A= n.418A= n.687A= c.2021A= (p.Glu674=) c.1796A= (p.Glu599=) c.1628A= (p.Glu543=) c.1964A= (p.Glu655=) c.1967A= (p.Glu656=) c.1691A= (p.Glu564=) c.1853A= (p.Glu618=) c.1949A= (p.Glu650=) n.368A= c.1910A= (p.Glu637=) c.1742A= (p.Glu581=) | |
| 21 | g.25897617C>A | CA409806405 | APP | n.1987G>T n.417G>T n.686G>T c.2020G>T (p.Glu674Ter) c.1795G>T (p.Glu599Ter) c.1627G>T (p.Glu543Ter) c.1963G>T (p.Glu655Ter) c.1966G>T (p.Glu656Ter) c.1690G>T (p.Glu564Ter) c.1852G>T (p.Glu618Ter) c.1948G>T (p.Glu650Ter) n.367G>T c.1909G>T (p.Glu637Ter) c.1741G>T (p.Glu581Ter) | COSMIC |
| 21 | g.25897617C= | CA2383554923 | APP | n.1987G= n.417G= n.686G= c.2020G= (p.Glu674=) c.1795G= (p.Glu599=) c.1627G= (p.Glu543=) c.1963G= (p.Glu655=) c.1966G= (p.Glu656=) c.1690G= (p.Glu564=) c.1852G= (p.Glu618=) c.1948G= (p.Glu650=) n.367G= c.1909G= (p.Glu637=) c.1741G= (p.Glu581=) | |
| 21 | g.25897617C>G | CA9987094 | APP | n.1987G>C n.417G>C n.686G>C c.2020G>C (p.Glu674Gln) c.1795G>C (p.Glu599Gln) c.1627G>C (p.Glu543Gln) c.1963G>C (p.Glu655Gln) c.1966G>C (p.Glu656Gln) c.1690G>C (p.Glu564Gln) c.1852G>C (p.Glu618Gln) c.1948G>C (p.Glu650Gln) n.367G>C c.1909G>C (p.Glu637Gln) c.1741G>C (p.Glu581Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25897617C>T | CA319103437 | APP | n.1987G>A n.417G>A n.686G>A c.2020G>A (p.Glu674Lys) c.1795G>A (p.Glu599Lys) c.1627G>A (p.Glu543Lys) c.1963G>A (p.Glu655Lys) c.1966G>A (p.Glu656Lys) c.1690G>A (p.Glu564Lys) c.1852G>A (p.Glu618Lys) c.1948G>A (p.Glu650Lys) n.367G>A c.1909G>A (p.Glu637Lys) c.1741G>A (p.Glu581Lys) | dbSNP gnomAD v4 |
| 21 | g.25897618T>A | CA511686188 | APP | n.1986A>T n.416A>T n.685A>T c.2019A>T (p.Ala673=) c.1794A>T (p.Ala598=) c.1626A>T (p.Ala542=) c.1962A>T (p.Ala654=) c.1965A>T (p.Ala655=) c.1689A>T (p.Ala563=) c.1851A>T (p.Ala617=) c.1947A>T (p.Ala649=) n.366A>T c.1908A>T (p.Ala636=) c.1740A>T (p.Ala580=) | |
| 21 | g.25897618T>C | CA511686187 | APP | n.1986A>G n.416A>G n.685A>G c.2019A>G (p.Ala673=) c.1794A>G (p.Ala598=) c.1626A>G (p.Ala542=) c.1962A>G (p.Ala654=) c.1965A>G (p.Ala655=) c.1689A>G (p.Ala563=) c.1851A>G (p.Ala617=) c.1947A>G (p.Ala649=) n.366A>G c.1908A>G (p.Ala636=) c.1740A>G (p.Ala580=) | gnomAD v4 |
| 21 | g.25897618T>G | CA511686189 | APP | n.1986A>C n.416A>C n.685A>C c.2019A>C (p.Ala673=) c.1794A>C (p.Ala598=) c.1626A>C (p.Ala542=) c.1962A>C (p.Ala654=) c.1965A>C (p.Ala655=) c.1689A>C (p.Ala563=) c.1851A>C (p.Ala617=) c.1947A>C (p.Ala649=) n.366A>C c.1908A>C (p.Ala636=) c.1740A>C (p.Ala580=) | ClinVar gnomAD v4 |
| 21 | g.25897619G>A | CA258118 | APP | n.1985C>T n.415C>T n.684C>T c.2018C>T (p.Ala673Val) c.1793C>T (p.Ala598Val) c.1625C>T (p.Ala542Val) c.1961C>T (p.Ala654Val) c.1964C>T (p.Ala655Val) c.1688C>T (p.Ala563Val) c.1850C>T (p.Ala617Val) c.1946C>T (p.Ala649Val) n.365C>T c.1907C>T (p.Ala636Val) c.1739C>T (p.Ala580Val) | ClinVar dbSNP |
| 21 | g.25897619G>C | CA409806410 | APP | n.1985C>G n.415C>G n.684C>G c.2018C>G (p.Ala673Gly) c.1793C>G (p.Ala598Gly) c.1625C>G (p.Ala542Gly) c.1961C>G (p.Ala654Gly) c.1964C>G (p.Ala655Gly) c.1688C>G (p.Ala563Gly) c.1850C>G (p.Ala617Gly) c.1946C>G (p.Ala649Gly) n.365C>G c.1907C>G (p.Ala636Gly) c.1739C>G (p.Ala580Gly) | dbSNP |
| 21 | g.25897619G= | CA2383554924 | APP | n.1985C= n.415C= n.684C= c.2018C= (p.Ala673=) c.1793C= (p.Ala598=) c.1625C= (p.Ala542=) c.1961C= (p.Ala654=) c.1964C= (p.Ala655=) c.1688C= (p.Ala563=) c.1850C= (p.Ala617=) c.1946C= (p.Ala649=) n.365C= c.1907C= (p.Ala636=) c.1739C= (p.Ala580=) | |
| 21 | g.25897619G>T | CA409806411 | APP | n.1985C>A n.415C>A n.684C>A c.2018C>A (p.Ala673Glu) c.1793C>A (p.Ala598Glu) c.1625C>A (p.Ala542Glu) c.1961C>A (p.Ala654Glu) c.1964C>A (p.Ala655Glu) c.1688C>A (p.Ala563Glu) c.1850C>A (p.Ala617Glu) c.1946C>A (p.Ala649Glu) n.365C>A c.1907C>A (p.Ala636Glu) c.1739C>A (p.Ala580Glu) | |
| 21 | g.25897620C>A | CA409806416 | APP | n.1984G>T n.414G>T n.683G>T c.2017G>T (p.Ala673Ser) c.1792G>T (p.Ala598Ser) c.1624G>T (p.Ala542Ser) c.1960G>T (p.Ala654Ser) c.1963G>T (p.Ala655Ser) c.1687G>T (p.Ala563Ser) c.1849G>T (p.Ala617Ser) c.1945G>T (p.Ala649Ser) n.364G>T c.1906G>T (p.Ala636Ser) c.1738G>T (p.Ala580Ser) | |
| 21 | g.25897620C= | CA2383554925 | APP | n.1984G= n.414G= n.683G= c.2017G= (p.Ala673=) c.1792G= (p.Ala598=) c.1624G= (p.Ala542=) c.1960G= (p.Ala654=) c.1963G= (p.Ala655=) c.1687G= (p.Ala563=) c.1849G= (p.Ala617=) c.1945G= (p.Ala649=) n.364G= c.1906G= (p.Ala636=) c.1738G= (p.Ala580=) | |
| 21 | g.25897620C>G | CA409806413 | APP | n.1984G>C n.414G>C n.683G>C c.2017G>C (p.Ala673Pro) c.1792G>C (p.Ala598Pro) c.1624G>C (p.Ala542Pro) c.1960G>C (p.Ala654Pro) c.1963G>C (p.Ala655Pro) c.1687G>C (p.Ala563Pro) c.1849G>C (p.Ala617Pro) c.1945G>C (p.Ala649Pro) n.364G>C c.1906G>C (p.Ala636Pro) c.1738G>C (p.Ala580Pro) | |
| 21 | g.25897620C>T | CA130092 | APP | n.1984G>A n.414G>A n.683G>A c.2017G>A (p.Ala673Thr) c.1792G>A (p.Ala598Thr) c.1624G>A (p.Ala542Thr) c.1960G>A (p.Ala654Thr) c.1963G>A (p.Ala655Thr) c.1687G>A (p.Ala563Thr) c.1849G>A (p.Ala617Thr) c.1945G>A (p.Ala649Thr) n.364G>A c.1906G>A (p.Ala636Thr) c.1738G>A (p.Ala580Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25897621A>C | CA409806418 | APP | n.1983T>G n.413T>G n.682T>G c.2016T>G (p.Asp672Glu) c.1791T>G (p.Asp597Glu) c.1623T>G (p.Asp541Glu) c.1959T>G (p.Asp653Glu) c.1962T>G (p.Asp654Glu) c.1686T>G (p.Asp562Glu) c.1848T>G (p.Asp616Glu) c.1944T>G (p.Asp648Glu) n.363T>G c.1905T>G (p.Asp635Glu) c.1737T>G (p.Asp579Glu) | gnomAD v4 |
| 21 | g.25897621A>G | CA511686213 | APP | n.1983T>C n.413T>C n.682T>C c.2016T>C (p.Asp672=) c.1791T>C (p.Asp597=) c.1623T>C (p.Asp541=) c.1959T>C (p.Asp653=) c.1962T>C (p.Asp654=) c.1686T>C (p.Asp562=) c.1848T>C (p.Asp616=) c.1944T>C (p.Asp648=) n.363T>C c.1905T>C (p.Asp635=) c.1737T>C (p.Asp579=) | |
| 21 | g.25897621A>T | CA409806419 | APP | n.1983T>A n.413T>A n.682T>A c.2016T>A (p.Asp672Glu) c.1791T>A (p.Asp597Glu) c.1623T>A (p.Asp541Glu) c.1959T>A (p.Asp653Glu) c.1962T>A (p.Asp654Glu) c.1686T>A (p.Asp562Glu) c.1848T>A (p.Asp616Glu) c.1944T>A (p.Asp648Glu) n.363T>A c.1905T>A (p.Asp635Glu) c.1737T>A (p.Asp579Glu) | |
| 21 | g.25897622T>A | CA409806421 | APP | n.1982A>T n.412A>T n.681A>T c.2015A>T (p.Asp672Val) c.1790A>T (p.Asp597Val) c.1622A>T (p.Asp541Val) c.1958A>T (p.Asp653Val) c.1961A>T (p.Asp654Val) c.1685A>T (p.Asp562Val) c.1847A>T (p.Asp616Val) c.1943A>T (p.Asp648Val) n.362A>T c.1904A>T (p.Asp635Val) c.1736A>T (p.Asp579Val) | |
| 21 | g.25897622T>C | CA409806423 | APP | n.1982A>G n.412A>G n.681A>G c.2015A>G (p.Asp672Gly) c.1790A>G (p.Asp597Gly) c.1622A>G (p.Asp541Gly) c.1958A>G (p.Asp653Gly) c.1961A>G (p.Asp654Gly) c.1685A>G (p.Asp562Gly) c.1847A>G (p.Asp616Gly) c.1943A>G (p.Asp648Gly) n.362A>G c.1904A>G (p.Asp635Gly) c.1736A>G (p.Asp579Gly) | |
| 21 | g.25897622T>G | CA409806424 | APP | n.1982A>C n.412A>C n.681A>C c.2015A>C (p.Asp672Ala) c.1790A>C (p.Asp597Ala) c.1622A>C (p.Asp541Ala) c.1958A>C (p.Asp653Ala) c.1961A>C (p.Asp654Ala) c.1685A>C (p.Asp562Ala) c.1847A>C (p.Asp616Ala) c.1943A>C (p.Asp648Ala) n.362A>C c.1904A>C (p.Asp635Ala) c.1736A>C (p.Asp579Ala) | |
| 21 | g.25897623C>A | CA409806430 | APP | n.1981G>T n.411G>T n.680G>T c.2014G>T (p.Asp672Tyr) c.1789G>T (p.Asp597Tyr) c.1621G>T (p.Asp541Tyr) c.1957G>T (p.Asp653Tyr) c.1960G>T (p.Asp654Tyr) c.1684G>T (p.Asp562Tyr) c.1846G>T (p.Asp616Tyr) c.1942G>T (p.Asp648Tyr) n.361G>T c.1903G>T (p.Asp635Tyr) c.1735G>T (p.Asp579Tyr) | |
| 21 | g.25897623C>G | CA409806426 | APP | n.1981G>C n.411G>C n.680G>C c.2014G>C (p.Asp672His) c.1789G>C (p.Asp597His) c.1621G>C (p.Asp541His) c.1957G>C (p.Asp653His) c.1960G>C (p.Asp654His) c.1684G>C (p.Asp562His) c.1846G>C (p.Asp616His) c.1942G>C (p.Asp648His) n.361G>C c.1903G>C (p.Asp635His) c.1735G>C (p.Asp579His) | |
| 21 | g.25897623C>T | CA409806428 | APP | n.1981G>A n.411G>A n.680G>A c.2014G>A (p.Asp672Asn) c.1789G>A (p.Asp597Asn) c.1621G>A (p.Asp541Asn) c.1957G>A (p.Asp653Asn) c.1960G>A (p.Asp654Asn) c.1684G>A (p.Asp562Asn) c.1846G>A (p.Asp616Asn) c.1942G>A (p.Asp648Asn) n.361G>A c.1903G>A (p.Asp635Asn) c.1735G>A (p.Asp579Asn) | |
| 21 | g.25897624C>A | CA409806432 | APP | n.1980G>T n.410G>T n.679G>T c.2013G>T (p.Met671Ile) c.1788G>T (p.Met596Ile) c.1620G>T (p.Met540Ile) c.1956G>T (p.Met652Ile) c.1959G>T (p.Met653Ile) c.1683G>T (p.Met561Ile) c.1845G>T (p.Met615Ile) c.1941G>T (p.Met647Ile) n.360G>T c.1902G>T (p.Met634Ile) c.1734G>T (p.Met578Ile) | |
| 21 | g.25897624C>G | CA409806434 | APP | n.1980G>C n.410G>C n.679G>C c.2013G>C (p.Met671Ile) c.1788G>C (p.Met596Ile) c.1620G>C (p.Met540Ile) c.1956G>C (p.Met652Ile) c.1959G>C (p.Met653Ile) c.1683G>C (p.Met561Ile) c.1845G>C (p.Met615Ile) c.1941G>C (p.Met647Ile) n.360G>C c.1902G>C (p.Met634Ile) c.1734G>C (p.Met578Ile) | |
| 21 | g.25897624C>T | CA409806436 | APP | n.1980G>A n.410G>A n.679G>A c.2013G>A (p.Met671Ile) c.1788G>A (p.Met596Ile) c.1620G>A (p.Met540Ile) c.1956G>A (p.Met652Ile) c.1959G>A (p.Met653Ile) c.1683G>A (p.Met561Ile) c.1845G>A (p.Met615Ile) c.1941G>A (p.Met647Ile) n.360G>A c.1902G>A (p.Met634Ile) c.1734G>A (p.Met578Ile) | |
| 21 | g.25897625A= | CA2383554926 | APP | n.1979T= n.409T= n.678T= c.2012T= (p.Met671=) c.1787T= (p.Met596=) c.1619T= (p.Met540=) c.1955T= (p.Met652=) c.1958T= (p.Met653=) c.1682T= (p.Met561=) c.1844T= (p.Met615=) c.1940T= (p.Met647=) n.359T= c.1901T= (p.Met634=) c.1733T= (p.Met578=) | |
| 21 | g.25897625A>C | CA409806438 | APP | n.1979T>G n.409T>G n.678T>G c.2012T>G (p.Met671Arg) c.1787T>G (p.Met596Arg) c.1619T>G (p.Met540Arg) c.1955T>G (p.Met652Arg) c.1958T>G (p.Met653Arg) c.1682T>G (p.Met561Arg) c.1844T>G (p.Met615Arg) c.1940T>G (p.Met647Arg) n.359T>G c.1901T>G (p.Met634Arg) c.1733T>G (p.Met578Arg) | |
| 21 | g.25897625A>G | CA409806440 | APP | n.1979T>C n.409T>C n.678T>C c.2012T>C (p.Met671Thr) c.1787T>C (p.Met596Thr) c.1619T>C (p.Met540Thr) c.1955T>C (p.Met652Thr) c.1958T>C (p.Met653Thr) c.1682T>C (p.Met561Thr) c.1844T>C (p.Met615Thr) c.1940T>C (p.Met647Thr) n.359T>C c.1901T>C (p.Met634Thr) c.1733T>C (p.Met578Thr) | ClinVar dbSNP |
| 21 | g.25897625A>T | CA409806442 | APP | n.1979T>A n.409T>A n.678T>A c.2012T>A (p.Met671Lys) c.1787T>A (p.Met596Lys) c.1619T>A (p.Met540Lys) c.1955T>A (p.Met652Lys) c.1958T>A (p.Met653Lys) c.1682T>A (p.Met561Lys) c.1844T>A (p.Met615Lys) c.1940T>A (p.Met647Lys) n.359T>A c.1901T>A (p.Met634Lys) c.1733T>A (p.Met578Lys) | |
| 21 | g.25897626T>A | CA319103456 | APP | n.1978A>T n.408A>T n.677A>T c.2011A>T (p.Met671Leu) c.1786A>T (p.Met596Leu) c.1618A>T (p.Met540Leu) c.1954A>T (p.Met652Leu) c.1957A>T (p.Met653Leu) c.1681A>T (p.Met561Leu) c.1843A>T (p.Met615Leu) c.1939A>T (p.Met647Leu) n.358A>T c.1900A>T (p.Met634Leu) c.1732A>T (p.Met578Leu) | ClinVar dbSNP |
| 21 | g.25897626T>C | CA409806445 | APP | n.1978A>G n.408A>G n.677A>G c.2011A>G (p.Met671Val) c.1786A>G (p.Met596Val) c.1618A>G (p.Met540Val) c.1954A>G (p.Met652Val) c.1957A>G (p.Met653Val) c.1681A>G (p.Met561Val) c.1843A>G (p.Met615Val) c.1939A>G (p.Met647Val) n.358A>G c.1900A>G (p.Met634Val) c.1732A>G (p.Met578Val) | |
| 21 | g.25897626T>G | CA409806447 | APP | n.1978A>C n.408A>C n.677A>C c.2011A>C (p.Met671Leu) c.1786A>C (p.Met596Leu) c.1618A>C (p.Met540Leu) c.1954A>C (p.Met652Leu) c.1957A>C (p.Met653Leu) c.1681A>C (p.Met561Leu) c.1843A>C (p.Met615Leu) c.1939A>C (p.Met647Leu) n.358A>C c.1900A>C (p.Met634Leu) c.1732A>C (p.Met578Leu) | dbSNP |
| 21 | g.25897626T= | CA2383554927 | APP | n.1978A= n.408A= n.677A= c.2011A= (p.Met671=) c.1786A= (p.Met596=) c.1618A= (p.Met540=) c.1954A= (p.Met652=) c.1957A= (p.Met653=) c.1681A= (p.Met561=) c.1843A= (p.Met615=) c.1939A= (p.Met647=) n.358A= c.1900A= (p.Met634=) c.1732A= (p.Met578=) | |
| 21 | g.25897626_25897627delinsGA | CA127795 | APP | n.1977_1978delinsTC n.407_408delinsTC n.676_677delinsTC c.2010_2011delinsTC (p.Lys670_Met671delinsAsnLeu) c.1785_1786delinsTC (p.Lys595_Met596delinsAsnLeu) c.1617_1618delinsTC (p.Lys539_Met540delinsAsnLeu) c.1953_1954delinsTC (p.Lys651_Met652delinsAsnLeu) c.1956_1957delinsTC (p.Lys652_Met653delinsAsnLeu) c.1680_1681delinsTC (p.Lys560_Met561delinsAsnLeu) c.1842_1843delinsTC (p.Lys614_Met615delinsAsnLeu) c.1938_1939delinsTC (p.Lys646_Met647delinsAsnLeu) n.357_358delinsTC c.1899_1900delinsTC (p.Lys633_Met634delinsAsnLeu) c.1731_1732delinsTC (p.Lys577_Met578delinsAsnLeu) | ClinVar dbSNP |
| 21 | g.25897626_25897627delinsTC | CA2383554928 | APP | n.1977_1978delinsGA n.407_408delinsGA n.676_677delinsGA c.2010_2011delinsGA (p.Lys670=) c.1785_1786delinsGA (p.Lys595=) c.1617_1618delinsGA (p.Lys539=) c.1953_1954delinsGA (p.Lys651=) c.1956_1957delinsGA (p.Lys652=) c.1680_1681delinsGA (p.Lys560=) c.1842_1843delinsGA (p.Lys614=) c.1938_1939delinsGA (p.Lys646=) n.357_358delinsGA c.1899_1900delinsGA (p.Lys633=) c.1731_1732delinsGA (p.Lys577=) |