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.25897586_25897588del | CA511686140 | APP | n.2022_2024del n.452_454del n.721_723del c.2055_2057del (p.His685del) c.1830_1832del (p.His610del) c.1662_1664del (p.His554del) c.1998_2000del (p.His666del) c.2001_2003del (p.His667del) c.1725_1727del (p.His575del) c.1887_1889del (p.His629del) c.1983_1985del (p.His661del) n.402_404del c.1944_1946del (p.His648del) c.1776_1778del (p.His592del) | dbSNP gnomAD v2 |
| 21 | g.25897584G>A | CA409806261 | APP | n.2020C>T n.450C>T n.719C>T c.2053C>T (p.His685Tyr) c.1828C>T (p.His610Tyr) c.1660C>T (p.His554Tyr) c.1996C>T (p.His666Tyr) c.1999C>T (p.His667Tyr) c.1723C>T (p.His575Tyr) c.1885C>T (p.His629Tyr) c.1981C>T (p.His661Tyr) n.400C>T c.1942C>T (p.His648Tyr) c.1774C>T (p.His592Tyr) | |
| 21 | g.25897584G>C | CA409806262 | APP | n.2020C>G n.450C>G n.719C>G c.2053C>G (p.His685Asp) c.1828C>G (p.His610Asp) c.1660C>G (p.His554Asp) c.1996C>G (p.His666Asp) c.1999C>G (p.His667Asp) c.1723C>G (p.His575Asp) c.1885C>G (p.His629Asp) c.1981C>G (p.His661Asp) n.400C>G c.1942C>G (p.His648Asp) c.1774C>G (p.His592Asp) | |
| 21 | g.25897584G>T | CA409806264 | APP | n.2020C>A n.450C>A n.719C>A c.2053C>A (p.His685Asn) c.1828C>A (p.His610Asn) c.1660C>A (p.His554Asn) c.1996C>A (p.His666Asn) c.1999C>A (p.His667Asn) c.1723C>A (p.His575Asn) c.1885C>A (p.His629Asn) c.1981C>A (p.His661Asn) n.400C>A c.1942C>A (p.His648Asn) c.1774C>A (p.His592Asn) | |
| 21 | g.25897585A>C | CA409806266 | APP | n.2019T>G n.449T>G n.718T>G c.2052T>G (p.His684Gln) c.1827T>G (p.His609Gln) c.1659T>G (p.His553Gln) c.1995T>G (p.His665Gln) c.1998T>G (p.His666Gln) c.1722T>G (p.His574Gln) c.1884T>G (p.His628Gln) c.1980T>G (p.His660Gln) n.399T>G c.1941T>G (p.His647Gln) c.1773T>G (p.His591Gln) | |
| 21 | g.25897585A>G | CA511686146 | APP | n.2019T>C n.449T>C n.718T>C c.2052T>C (p.His684=) c.1827T>C (p.His609=) c.1659T>C (p.His553=) c.1995T>C (p.His665=) c.1998T>C (p.His666=) c.1722T>C (p.His574=) c.1884T>C (p.His628=) c.1980T>C (p.His660=) n.399T>C c.1941T>C (p.His647=) c.1773T>C (p.His591=) | |
| 21 | g.25897585A>T | CA409806268 | APP | n.2019T>A n.449T>A n.718T>A c.2052T>A (p.His684Gln) c.1827T>A (p.His609Gln) c.1659T>A (p.His553Gln) c.1995T>A (p.His665Gln) c.1998T>A (p.His666Gln) c.1722T>A (p.His574Gln) c.1884T>A (p.His628Gln) c.1980T>A (p.His660Gln) n.399T>A c.1941T>A (p.His647Gln) c.1773T>A (p.His591Gln) | COSMIC |
| 21 | g.25897586T>A | CA409806270 | APP | n.2018A>T n.448A>T n.717A>T c.2051A>T (p.His684Leu) c.1826A>T (p.His609Leu) c.1658A>T (p.His553Leu) c.1994A>T (p.His665Leu) c.1997A>T (p.His666Leu) c.1721A>T (p.His574Leu) c.1883A>T (p.His628Leu) c.1979A>T (p.His660Leu) n.398A>T c.1940A>T (p.His647Leu) c.1772A>T (p.His591Leu) | dbSNP |
| 21 | g.25897586T>C | CA409806272 | APP | n.2018A>G n.448A>G n.717A>G c.2051A>G (p.His684Arg) c.1826A>G (p.His609Arg) c.1658A>G (p.His553Arg) c.1994A>G (p.His665Arg) c.1997A>G (p.His666Arg) c.1721A>G (p.His574Arg) c.1883A>G (p.His628Arg) c.1979A>G (p.His660Arg) n.398A>G c.1940A>G (p.His647Arg) c.1772A>G (p.His591Arg) | gnomAD v4 |
| 21 | g.25897586T>G | CA409806274 | APP | n.2018A>C n.448A>C n.717A>C c.2051A>C (p.His684Pro) c.1826A>C (p.His609Pro) c.1658A>C (p.His553Pro) c.1994A>C (p.His665Pro) c.1997A>C (p.His666Pro) c.1721A>C (p.His574Pro) c.1883A>C (p.His628Pro) c.1979A>C (p.His660Pro) n.398A>C c.1940A>C (p.His647Pro) c.1772A>C (p.His591Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25897586T= | CA2383554907 | APP | n.2018A= n.448A= n.717A= c.2051A= (p.His684=) c.1826A= (p.His609=) c.1658A= (p.His553=) c.1994A= (p.His665=) c.1997A= (p.His666=) c.1721A= (p.His574=) c.1883A= (p.His628=) c.1979A= (p.His660=) n.398A= c.1940A= (p.His647=) c.1772A= (p.His591=) | |
| 21 | g.25897587G>A | CA409806277 | APP | n.2017C>T n.447C>T n.716C>T c.2050C>T (p.His684Tyr) c.1825C>T (p.His609Tyr) c.1657C>T (p.His553Tyr) c.1993C>T (p.His665Tyr) c.1996C>T (p.His666Tyr) c.1720C>T (p.His574Tyr) c.1882C>T (p.His628Tyr) c.1978C>T (p.His660Tyr) n.397C>T c.1939C>T (p.His647Tyr) c.1771C>T (p.His591Tyr) | gnomAD v4 |
| 21 | g.25897587G>C | CA409806278 | APP | n.2017C>G n.447C>G n.716C>G c.2050C>G (p.His684Asp) c.1825C>G (p.His609Asp) c.1657C>G (p.His553Asp) c.1993C>G (p.His665Asp) c.1996C>G (p.His666Asp) c.1720C>G (p.His574Asp) c.1882C>G (p.His628Asp) c.1978C>G (p.His660Asp) n.397C>G c.1939C>G (p.His647Asp) c.1771C>G (p.His591Asp) | |
| 21 | g.25897587G>T | CA409806280 | APP | n.2017C>A n.447C>A n.716C>A c.2050C>A (p.His684Asn) c.1825C>A (p.His609Asn) c.1657C>A (p.His553Asn) c.1993C>A (p.His665Asn) c.1996C>A (p.His666Asn) c.1720C>A (p.His574Asn) c.1882C>A (p.His628Asn) c.1978C>A (p.His660Asn) n.397C>A c.1939C>A (p.His647Asn) c.1771C>A (p.His591Asn) | |
| 21 | g.25897588A= | CA2383554908 | APP | n.2016T= n.446T= n.715T= c.2049T= (p.Val683=) c.1824T= (p.Val608=) c.1656T= (p.Val552=) c.1992T= (p.Val664=) c.1995T= (p.Val665=) c.1719T= (p.Val573=) c.1881T= (p.Val627=) c.1977T= (p.Val659=) n.396T= c.1938T= (p.Val646=) c.1770T= (p.Val590=) | |
| 21 | g.25897588A>C | CA511686150 | APP | n.2016T>G n.446T>G n.715T>G c.2049T>G (p.Val683=) c.1824T>G (p.Val608=) c.1656T>G (p.Val552=) c.1992T>G (p.Val664=) c.1995T>G (p.Val665=) c.1719T>G (p.Val573=) c.1881T>G (p.Val627=) c.1977T>G (p.Val659=) n.396T>G c.1938T>G (p.Val646=) c.1770T>G (p.Val590=) | |
| 21 | g.25897588A>G | CA511686151 | APP | n.2016T>C n.446T>C n.715T>C c.2049T>C (p.Val683=) c.1824T>C (p.Val608=) c.1656T>C (p.Val552=) c.1992T>C (p.Val664=) c.1995T>C (p.Val665=) c.1719T>C (p.Val573=) c.1881T>C (p.Val627=) c.1977T>C (p.Val659=) n.396T>C c.1938T>C (p.Val646=) c.1770T>C (p.Val590=) | |
| 21 | g.25897588A>T | CA9987088 | APP | n.2016T>A n.446T>A n.715T>A c.2049T>A (p.Val683=) c.1824T>A (p.Val608=) c.1656T>A (p.Val552=) c.1992T>A (p.Val664=) c.1995T>A (p.Val665=) c.1719T>A (p.Val573=) c.1881T>A (p.Val627=) c.1977T>A (p.Val659=) n.396T>A c.1938T>A (p.Val646=) c.1770T>A (p.Val590=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25897589A>C | CA409806285 | APP | n.2015T>G n.445T>G n.714T>G c.2048T>G (p.Val683Gly) c.1823T>G (p.Val608Gly) c.1655T>G (p.Val552Gly) c.1991T>G (p.Val664Gly) c.1994T>G (p.Val665Gly) c.1718T>G (p.Val573Gly) c.1880T>G (p.Val627Gly) c.1976T>G (p.Val659Gly) n.395T>G c.1937T>G (p.Val646Gly) c.1769T>G (p.Val590Gly) | |
| 21 | g.25897589A>G | CA409806287 | APP | n.2015T>C n.445T>C n.714T>C c.2048T>C (p.Val683Ala) c.1823T>C (p.Val608Ala) c.1655T>C (p.Val552Ala) c.1991T>C (p.Val664Ala) c.1994T>C (p.Val665Ala) c.1718T>C (p.Val573Ala) c.1880T>C (p.Val627Ala) c.1976T>C (p.Val659Ala) n.395T>C c.1937T>C (p.Val646Ala) c.1769T>C (p.Val590Ala) | |
| 21 | g.25897589A>T | CA409806283 | APP | n.2015T>A n.445T>A n.714T>A c.2048T>A (p.Val683Asp) c.1823T>A (p.Val608Asp) c.1655T>A (p.Val552Asp) c.1991T>A (p.Val664Asp) c.1994T>A (p.Val665Asp) c.1718T>A (p.Val573Asp) c.1880T>A (p.Val627Asp) c.1976T>A (p.Val659Asp) n.395T>A c.1937T>A (p.Val646Asp) c.1769T>A (p.Val590Asp) | |
| 21 | g.25897590C>A | CA409806291 | APP | n.2014G>T n.444G>T n.713G>T c.2047G>T (p.Val683Phe) c.1822G>T (p.Val608Phe) c.1654G>T (p.Val552Phe) c.1990G>T (p.Val664Phe) c.1993G>T (p.Val665Phe) c.1717G>T (p.Val573Phe) c.1879G>T (p.Val627Phe) c.1975G>T (p.Val659Phe) n.394G>T c.1936G>T (p.Val646Phe) c.1768G>T (p.Val590Phe) | |
| 21 | g.25897590C= | CA2383554909 | APP | n.2014G= n.444G= n.713G= c.2047G= (p.Val683=) c.1822G= (p.Val608=) c.1654G= (p.Val552=) c.1990G= (p.Val664=) c.1993G= (p.Val665=) c.1717G= (p.Val573=) c.1879G= (p.Val627=) c.1975G= (p.Val659=) n.394G= c.1936G= (p.Val646=) c.1768G= (p.Val590=) | |
| 21 | g.25897590C>G | CA409806289 | APP | n.2014G>C n.444G>C n.713G>C c.2047G>C (p.Val683Leu) c.1822G>C (p.Val608Leu) c.1654G>C (p.Val552Leu) c.1990G>C (p.Val664Leu) c.1993G>C (p.Val665Leu) c.1717G>C (p.Val573Leu) c.1879G>C (p.Val627Leu) c.1975G>C (p.Val659Leu) n.394G>C c.1936G>C (p.Val646Leu) c.1768G>C (p.Val590Leu) | |
| 21 | g.25897590C>T | CA9987089 | APP | n.2014G>A n.444G>A n.713G>A c.2047G>A (p.Val683Ile) c.1822G>A (p.Val608Ile) c.1654G>A (p.Val552Ile) c.1990G>A (p.Val664Ile) c.1993G>A (p.Val665Ile) c.1717G>A (p.Val573Ile) c.1879G>A (p.Val627Ile) c.1975G>A (p.Val659Ile) n.394G>A c.1936G>A (p.Val646Ile) c.1768G>A (p.Val590Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25897591T>A | CA409806294 | APP | n.2013A>T n.443A>T n.712A>T c.2046A>T (p.Glu682Asp) c.1821A>T (p.Glu607Asp) c.1653A>T (p.Glu551Asp) c.1989A>T (p.Glu663Asp) c.1992A>T (p.Glu664Asp) c.1716A>T (p.Glu572Asp) c.1878A>T (p.Glu626Asp) c.1974A>T (p.Glu658Asp) n.393A>T c.1935A>T (p.Glu645Asp) c.1767A>T (p.Glu589Asp) | |
| 21 | g.25897591T>C | CA511686155 | APP | n.2013A>G n.443A>G n.712A>G c.2046A>G (p.Glu682=) c.1821A>G (p.Glu607=) c.1653A>G (p.Glu551=) c.1989A>G (p.Glu663=) c.1992A>G (p.Glu664=) c.1716A>G (p.Glu572=) c.1878A>G (p.Glu626=) c.1974A>G (p.Glu658=) n.393A>G c.1935A>G (p.Glu645=) c.1767A>G (p.Glu589=) | ClinVar dbSNP gnomAD v4 |
| 21 | g.25897591T>G | CA409806296 | APP | n.2013A>C n.443A>C n.712A>C c.2046A>C (p.Glu682Asp) c.1821A>C (p.Glu607Asp) c.1653A>C (p.Glu551Asp) c.1989A>C (p.Glu663Asp) c.1992A>C (p.Glu664Asp) c.1716A>C (p.Glu572Asp) c.1878A>C (p.Glu626Asp) c.1974A>C (p.Glu658Asp) n.393A>C c.1935A>C (p.Glu645Asp) c.1767A>C (p.Glu589Asp) | |
| 21 | g.25897591T= | CA2383554910 | APP | n.2013A= n.443A= n.712A= c.2046A= (p.Glu682=) c.1821A= (p.Glu607=) c.1653A= (p.Glu551=) c.1989A= (p.Glu663=) c.1992A= (p.Glu664=) c.1716A= (p.Glu572=) c.1878A= (p.Glu626=) c.1974A= (p.Glu658=) n.393A= c.1935A= (p.Glu645=) c.1767A= (p.Glu589=) | |
| 21 | g.25897592T>A | CA409806298 | APP | n.2012A>T n.442A>T n.711A>T c.2045A>T (p.Glu682Val) c.1820A>T (p.Glu607Val) c.1652A>T (p.Glu551Val) c.1988A>T (p.Glu663Val) c.1991A>T (p.Glu664Val) c.1715A>T (p.Glu572Val) c.1877A>T (p.Glu626Val) c.1973A>T (p.Glu658Val) n.392A>T c.1934A>T (p.Glu645Val) c.1766A>T (p.Glu589Val) | |
| 21 | g.25897592T>C | CA409806300 | APP | n.2012A>G n.442A>G n.711A>G c.2045A>G (p.Glu682Gly) c.1820A>G (p.Glu607Gly) c.1652A>G (p.Glu551Gly) c.1988A>G (p.Glu663Gly) c.1991A>G (p.Glu664Gly) c.1715A>G (p.Glu572Gly) c.1877A>G (p.Glu626Gly) c.1973A>G (p.Glu658Gly) n.392A>G c.1934A>G (p.Glu645Gly) c.1766A>G (p.Glu589Gly) | |
| 21 | g.25897592T>G | CA409806302 | APP | n.2012A>C n.442A>C n.711A>C c.2045A>C (p.Glu682Ala) c.1820A>C (p.Glu607Ala) c.1652A>C (p.Glu551Ala) c.1988A>C (p.Glu663Ala) c.1991A>C (p.Glu664Ala) c.1715A>C (p.Glu572Ala) c.1877A>C (p.Glu626Ala) c.1973A>C (p.Glu658Ala) n.392A>C c.1934A>C (p.Glu645Ala) c.1766A>C (p.Glu589Ala) | gnomAD v4 |
| 21 | g.25897593C>A | CA409806304 | APP | n.2011G>T n.441G>T n.710G>T c.2044G>T (p.Glu682Ter) c.1819G>T (p.Glu607Ter) c.1651G>T (p.Glu551Ter) c.1987G>T (p.Glu663Ter) c.1990G>T (p.Glu664Ter) c.1714G>T (p.Glu572Ter) c.1876G>T (p.Glu626Ter) c.1972G>T (p.Glu658Ter) n.391G>T c.1933G>T (p.Glu645Ter) c.1765G>T (p.Glu589Ter) | |
| 21 | g.25897593C= | CA2383554911 | APP | n.2011G= n.441G= n.710G= c.2044G= (p.Glu682=) c.1819G= (p.Glu607=) c.1651G= (p.Glu551=) c.1987G= (p.Glu663=) c.1990G= (p.Glu664=) c.1714G= (p.Glu572=) c.1876G= (p.Glu626=) c.1972G= (p.Glu658=) n.391G= c.1933G= (p.Glu645=) c.1765G= (p.Glu589=) | |
| 21 | g.25897593C>G | CA409806306 | APP | n.2011G>C n.441G>C n.710G>C c.2044G>C (p.Glu682Gln) c.1819G>C (p.Glu607Gln) c.1651G>C (p.Glu551Gln) c.1987G>C (p.Glu663Gln) c.1990G>C (p.Glu664Gln) c.1714G>C (p.Glu572Gln) c.1876G>C (p.Glu626Gln) c.1972G>C (p.Glu658Gln) n.391G>C c.1933G>C (p.Glu645Gln) c.1765G>C (p.Glu589Gln) | gnomAD v4 |
| 21 | g.25897593C>T | CA409806308 | APP | n.2011G>A n.441G>A n.710G>A c.2044G>A (p.Glu682Lys) c.1819G>A (p.Glu607Lys) c.1651G>A (p.Glu551Lys) c.1987G>A (p.Glu663Lys) c.1990G>A (p.Glu664Lys) c.1714G>A (p.Glu572Lys) c.1876G>A (p.Glu626Lys) c.1972G>A (p.Glu658Lys) n.391G>A c.1933G>A (p.Glu645Lys) c.1765G>A (p.Glu589Lys) | dbSNP |
| 21 | g.25897594A>C | CA409806310 | APP | n.2010T>G n.440T>G n.709T>G c.2043T>G (p.Tyr681Ter) c.1818T>G (p.Tyr606Ter) c.1650T>G (p.Tyr550Ter) c.1986T>G (p.Tyr662Ter) c.1989T>G (p.Tyr663Ter) c.1713T>G (p.Tyr571Ter) c.1875T>G (p.Tyr625Ter) c.1971T>G (p.Tyr657Ter) n.390T>G c.1932T>G (p.Tyr644Ter) c.1764T>G (p.Tyr588Ter) | |
| 21 | g.25897594A>G | CA511686157 | APP | n.2010T>C n.440T>C n.709T>C c.2043T>C (p.Tyr681=) c.1818T>C (p.Tyr606=) c.1650T>C (p.Tyr550=) c.1986T>C (p.Tyr662=) c.1989T>C (p.Tyr663=) c.1713T>C (p.Tyr571=) c.1875T>C (p.Tyr625=) c.1971T>C (p.Tyr657=) n.390T>C c.1932T>C (p.Tyr644=) c.1764T>C (p.Tyr588=) | |
| 21 | g.25897594A>T | CA409806312 | APP | n.2010T>A n.440T>A n.709T>A c.2043T>A (p.Tyr681Ter) c.1818T>A (p.Tyr606Ter) c.1650T>A (p.Tyr550Ter) c.1986T>A (p.Tyr662Ter) c.1989T>A (p.Tyr663Ter) c.1713T>A (p.Tyr571Ter) c.1875T>A (p.Tyr625Ter) c.1971T>A (p.Tyr657Ter) n.390T>A c.1932T>A (p.Tyr644Ter) c.1764T>A (p.Tyr588Ter) | |
| 21 | g.25897594dup | CA637163687 | APP | n.2010dup n.440dup n.709dup c.2043dup (p.Glu682Ter) c.1818dup (p.Glu607Ter) c.1650dup (p.Glu551Ter) c.1986dup (p.Glu663Ter) c.1989dup (p.Glu664Ter) c.1713dup (p.Glu572Ter) c.1875dup (p.Glu626Ter) c.1971dup (p.Glu658Ter) n.390dup c.1932dup (p.Glu645Ter) c.1764dup (p.Glu589Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.25897595T>A | CA409806314 | APP | n.2009A>T n.439A>T n.708A>T c.2042A>T (p.Tyr681Phe) c.1817A>T (p.Tyr606Phe) c.1649A>T (p.Tyr550Phe) c.1985A>T (p.Tyr662Phe) c.1988A>T (p.Tyr663Phe) c.1712A>T (p.Tyr571Phe) c.1874A>T (p.Tyr625Phe) c.1970A>T (p.Tyr657Phe) n.389A>T c.1931A>T (p.Tyr644Phe) c.1763A>T (p.Tyr588Phe) | |
| 21 | g.25897595T>C | CA409806315 | APP | n.2009A>G n.439A>G n.708A>G c.2042A>G (p.Tyr681Cys) c.1817A>G (p.Tyr606Cys) c.1649A>G (p.Tyr550Cys) c.1985A>G (p.Tyr662Cys) c.1988A>G (p.Tyr663Cys) c.1712A>G (p.Tyr571Cys) c.1874A>G (p.Tyr625Cys) c.1970A>G (p.Tyr657Cys) n.389A>G c.1931A>G (p.Tyr644Cys) c.1763A>G (p.Tyr588Cys) | |
| 21 | g.25897595T>G | CA409806317 | APP | n.2009A>C n.439A>C n.708A>C c.2042A>C (p.Tyr681Ser) c.1817A>C (p.Tyr606Ser) c.1649A>C (p.Tyr550Ser) c.1985A>C (p.Tyr662Ser) c.1988A>C (p.Tyr663Ser) c.1712A>C (p.Tyr571Ser) c.1874A>C (p.Tyr625Ser) c.1970A>C (p.Tyr657Ser) n.389A>C c.1931A>C (p.Tyr644Ser) c.1763A>C (p.Tyr588Ser) | |
| 21 | g.25897596A>C | CA409806322 | APP | n.2008T>G n.438T>G n.707T>G c.2041T>G (p.Tyr681Asp) c.1816T>G (p.Tyr606Asp) c.1648T>G (p.Tyr550Asp) c.1984T>G (p.Tyr662Asp) c.1987T>G (p.Tyr663Asp) c.1711T>G (p.Tyr571Asp) c.1873T>G (p.Tyr625Asp) c.1969T>G (p.Tyr657Asp) n.388T>G c.1930T>G (p.Tyr644Asp) c.1762T>G (p.Tyr588Asp) | |
| 21 | g.25897596A>G | CA409806319 | APP | n.2008T>C n.438T>C n.707T>C c.2041T>C (p.Tyr681His) c.1816T>C (p.Tyr606His) c.1648T>C (p.Tyr550His) c.1984T>C (p.Tyr662His) c.1987T>C (p.Tyr663His) c.1711T>C (p.Tyr571His) c.1873T>C (p.Tyr625His) c.1969T>C (p.Tyr657His) n.388T>C c.1930T>C (p.Tyr644His) c.1762T>C (p.Tyr588His) | |
| 21 | g.25897596A>T | CA409806321 | APP | n.2008T>A n.438T>A n.707T>A c.2041T>A (p.Tyr681Asn) c.1816T>A (p.Tyr606Asn) c.1648T>A (p.Tyr550Asn) c.1984T>A (p.Tyr662Asn) c.1987T>A (p.Tyr663Asn) c.1711T>A (p.Tyr571Asn) c.1873T>A (p.Tyr625Asn) c.1969T>A (p.Tyr657Asn) n.388T>A c.1930T>A (p.Tyr644Asn) c.1762T>A (p.Tyr588Asn) | |
| 21 | g.25897597T>A | CA511686160 | APP | n.2007A>T n.437A>T n.706A>T c.2040A>T (p.Gly680=) c.1815A>T (p.Gly605=) c.1647A>T (p.Gly549=) c.1983A>T (p.Gly661=) c.1986A>T (p.Gly662=) c.1710A>T (p.Gly570=) c.1872A>T (p.Gly624=) c.1968A>T (p.Gly656=) n.387A>T c.1929A>T (p.Gly643=) c.1761A>T (p.Gly587=) | |
| 21 | g.25897597T>C | CA511686161 | APP | n.2007A>G n.437A>G n.706A>G c.2040A>G (p.Gly680=) c.1815A>G (p.Gly605=) c.1647A>G (p.Gly549=) c.1983A>G (p.Gly661=) c.1986A>G (p.Gly662=) c.1710A>G (p.Gly570=) c.1872A>G (p.Gly624=) c.1968A>G (p.Gly656=) n.387A>G c.1929A>G (p.Gly643=) c.1761A>G (p.Gly587=) | gnomAD v4 |
| 21 | g.25897597T>G | CA511686159 | APP | n.2007A>C n.437A>C n.706A>C c.2040A>C (p.Gly680=) c.1815A>C (p.Gly605=) c.1647A>C (p.Gly549=) c.1983A>C (p.Gly661=) c.1986A>C (p.Gly662=) c.1710A>C (p.Gly570=) c.1872A>C (p.Gly624=) c.1968A>C (p.Gly656=) n.387A>C c.1929A>C (p.Gly643=) c.1761A>C (p.Gly587=) | |
| 21 | g.25897598C>A | CA319103384 | APP | n.2006G>T n.436G>T n.705G>T c.2039G>T (p.Gly680Val) c.1814G>T (p.Gly605Val) c.1646G>T (p.Gly549Val) c.1982G>T (p.Gly661Val) c.1985G>T (p.Gly662Val) c.1709G>T (p.Gly570Val) c.1871G>T (p.Gly624Val) c.1967G>T (p.Gly656Val) n.386G>T c.1928G>T (p.Gly643Val) c.1760G>T (p.Gly587Val) | dbSNP gnomAD v4 |