Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.25897642C>A | CA409806514 | APP | c.1995G>T (p.Glu665Asp) c.1770G>T (p.Glu590Asp) c.1602G>T (p.Glu534Asp) c.1938G>T (p.Glu646Asp) c.1941G>T (p.Glu647Asp) c.1665G>T (p.Glu555Asp) c.1827G>T (p.Glu609Asp) c.1923G>T (p.Glu641Asp) c.1884G>T (p.Glu628Asp) c.1716G>T (p.Glu572Asp) | |
21 | g.25897642C>G | CA127797 | APP | c.1995G>C (p.Glu665Asp) c.1770G>C (p.Glu590Asp) c.1602G>C (p.Glu534Asp) c.1938G>C (p.Glu646Asp) c.1941G>C (p.Glu647Asp) c.1665G>C (p.Glu555Asp) c.1827G>C (p.Glu609Asp) c.1923G>C (p.Glu641Asp) c.1884G>C (p.Glu628Asp) c.1716G>C (p.Glu572Asp) | ClinVar dbSNP ExAC gnomAD |
21 | g.25897642C>T | CA511686286 | APP | c.1995G>A (p.Glu665=) c.1770G>A (p.Glu590=) c.1602G>A (p.Glu534=) c.1938G>A (p.Glu646=) c.1941G>A (p.Glu647=) c.1665G>A (p.Glu555=) c.1827G>A (p.Glu609=) c.1923G>A (p.Glu641=) c.1884G>A (p.Glu628=) c.1716G>A (p.Glu572=) | |
21 | g.25897646_25897648dup | CA748247763 | APP | 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) c.1882_1884dup (p.Glu628_Ile629insGlu) c.1714_1716dup (p.Glu572_Ile573insGlu) | dbSNP |
21 | g.25897642_25897644del | CA9987101 | APP | c.1989_1991del (p.Glu665del) c.1764_1766del (p.Glu590del) c.1596_1598del (p.Glu534del) c.1932_1934del (p.Glu646del) c.1935_1937del (p.Glu647del) c.1659_1661del (p.Glu555del) c.1821_1823del (p.Glu609del) c.1917_1919del (p.Glu641del) c.1878_1880del (p.Glu628del) c.1710_1712del (p.Glu572del) | dbSNP dbSNP ExAC gnomAD |
21 | g.25897643T>A | CA409806518 | APP | c.1994A>T (p.Glu665Val) c.1769A>T (p.Glu590Val) c.1601A>T (p.Glu534Val) c.1937A>T (p.Glu646Val) c.1940A>T (p.Glu647Val) c.1664A>T (p.Glu555Val) c.1826A>T (p.Glu609Val) c.1922A>T (p.Glu641Val) c.1883A>T (p.Glu628Val) c.1715A>T (p.Glu572Val) | |
21 | g.25897643T>C | CA409806519 | APP | c.1994A>G (p.Glu665Gly) c.1769A>G (p.Glu590Gly) c.1601A>G (p.Glu534Gly) c.1937A>G (p.Glu646Gly) c.1940A>G (p.Glu647Gly) c.1664A>G (p.Glu555Gly) c.1826A>G (p.Glu609Gly) c.1922A>G (p.Glu641Gly) c.1883A>G (p.Glu628Gly) c.1715A>G (p.Glu572Gly) | |
21 | g.25897643T>G | CA409806521 | APP | c.1994A>C (p.Glu665Ala) c.1769A>C (p.Glu590Ala) c.1601A>C (p.Glu534Ala) c.1937A>C (p.Glu646Ala) c.1940A>C (p.Glu647Ala) c.1664A>C (p.Glu555Ala) c.1826A>C (p.Glu609Ala) c.1922A>C (p.Glu641Ala) c.1883A>C (p.Glu628Ala) c.1715A>C (p.Glu572Ala) | |
21 | g.25897644C>A | CA409806525 | APP | 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) c.1882G>T (p.Glu628Ter) c.1714G>T (p.Glu572Ter) | |
21 | g.25897644C>G | CA409806523 | APP | 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) c.1882G>C (p.Glu628Gln) c.1714G>C (p.Glu572Gln) | |
21 | g.25897644C>T | CA9987102 | APP | 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) c.1882G>A (p.Glu628Lys) c.1714G>A (p.Glu572Lys) | dbSNP ExAC gnomAD |
21 | g.25897645C>A | CA409806528 | APP | 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) c.1881G>T (p.Glu627Asp) c.1713G>T (p.Glu571Asp) | |
21 | g.25897645C>G | CA409806529 | APP | 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) c.1881G>C (p.Glu627Asp) c.1713G>C (p.Glu571Asp) | |
21 | g.25897645C>T | CA511686300 | APP | 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=) c.1881G>A (p.Glu627=) c.1713G>A (p.Glu571=) | |
21 | g.25897646T>A | CA409806531 | APP | 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) c.1880A>T (p.Glu627Val) c.1712A>T (p.Glu571Val) | |
21 | g.25897646T>C | CA409806533 | APP | 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) c.1880A>G (p.Glu627Gly) c.1712A>G (p.Glu571Gly) | |
21 | g.25897646T>G | CA409806535 | APP | 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) c.1880A>C (p.Glu627Ala) c.1712A>C (p.Glu571Ala) | |
21 | g.25897647C>A | CA409806541 | APP | 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) c.1879G>T (p.Glu627Ter) c.1711G>T (p.Glu571Ter) | |
21 | g.25897647C>G | CA409806537 | APP | 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) c.1879G>C (p.Glu627Gln) c.1711G>C (p.Glu571Gln) | COSMIC |
21 | g.25897647C>T | CA409806540 | APP | 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) c.1879G>A (p.Glu627Lys) c.1711G>A (p.Glu571Lys) | |
21 | g.25897648C>A | CA511686315 | APP | 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=) c.1878G>T (p.Thr626=) c.1710G>T (p.Thr570=) | |
21 | g.25897648C>G | CA9987103 | APP | 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=) c.1878G>C (p.Thr626=) c.1710G>C (p.Thr570=) | dbSNP ExAC gnomAD |
21 | g.25897648C>T | CA319103543 | APP | 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=) c.1878G>A (p.Thr626=) c.1710G>A (p.Thr570=) | dbSNP |
21 | g.25897649G>A | CA9987104 | APP | 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) c.1877C>T (p.Thr626Met) c.1709C>T (p.Thr570Met) | dbSNP ExAC gnomAD |
21 | g.25897649G>C | CA409806542 | APP | 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) c.1877C>G (p.Thr626Arg) c.1709C>G (p.Thr570Arg) | |
21 | g.25897649G>T | CA409806544 | APP | 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) c.1877C>A (p.Thr626Lys) c.1709C>A (p.Thr570Lys) | |
21 | g.25897650T>A | CA409806545 | APP | 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) c.1876A>T (p.Thr626Ser) c.1708A>T (p.Thr570Ser) | |
21 | g.25897650T>C | CA409806546 | APP | 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) c.1876A>G (p.Thr626Ala) c.1708A>G (p.Thr570Ala) | |
21 | g.25897650T>G | CA409806547 | APP | 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) c.1876A>C (p.Thr626Pro) c.1708A>C (p.Thr570Pro) | |
21 | g.25897651C>A | CA409806548 | APP | 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) c.1875G>T (p.Lys625Asn) c.1707G>T (p.Lys569Asn) | |
21 | g.25897651C>G | CA409806549 | APP | 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) c.1875G>C (p.Lys625Asn) c.1707G>C (p.Lys569Asn) | |
21 | g.25897651C>T | CA511686327 | APP | 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=) c.1875G>A (p.Lys625=) c.1707G>A (p.Lys569=) | |
21 | g.25897652T>A | CA409806550 | APP | 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) c.1874A>T (p.Lys625Met) c.1706A>T (p.Lys569Met) | |
21 | g.25897652T>C | CA409806551 | APP | 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) c.1874A>G (p.Lys625Arg) c.1706A>G (p.Lys569Arg) | |
21 | g.25897652T>G | CA409806552 | APP | 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) c.1874A>C (p.Lys625Thr) c.1706A>C (p.Lys569Thr) | |
21 | g.25897653T>A | CA409806553 | APP | 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) c.1873A>T (p.Lys625Ter) c.1705A>T (p.Lys569Ter) | |
21 | g.25897653T>C | CA409806555 | APP | 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) c.1873A>G (p.Lys625Glu) c.1705A>G (p.Lys569Glu) | |
21 | g.25897653T>G | CA409806554 | APP | 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) c.1873A>C (p.Lys625Gln) c.1705A>C (p.Lys569Gln) | |
21 | g.25897654G>A | CA511686342 | APP | 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=) c.1872C>T (p.Ile624=) c.1704C>T (p.Ile568=) | |
21 | g.25897654G>C | CA409806556 | APP | 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) c.1872C>G (p.Ile624Met) c.1704C>G (p.Ile568Met) | |
21 | g.25897654G>T | CA511686341 | APP | 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=) c.1872C>A (p.Ile624=) c.1704C>A (p.Ile568=) | |
21 | g.25897655A>C | CA409806557 | APP | 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) c.1871T>G (p.Ile624Ser) c.1703T>G (p.Ile568Ser) | |
21 | g.25897655A>G | CA9987105 | APP | 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) c.1871T>C (p.Ile624Thr) c.1703T>C (p.Ile568Thr) | dbSNP ExAC gnomAD |
21 | g.25897655A>T | CA409806558 | APP | 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) c.1871T>A (p.Ile624Asn) c.1703T>A (p.Ile568Asn) | |
21 | g.25897656T>A | CA409806559 | APP | 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) c.1870A>T (p.Ile624Phe) c.1702A>T (p.Ile568Phe) | |
21 | g.25897656T>C | CA319103568 | APP | 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) c.1870A>G (p.Ile624Val) c.1702A>G (p.Ile568Val) | dbSNP gnomAD |
21 | g.25897656T>G | CA409806560 | APP | 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) c.1870A>C (p.Ile624Leu) c.1702A>C (p.Ile568Leu) | |
21 | g.25897657A>C | CA409806561 | APP | 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) c.1869T>G (p.Asn623Lys) c.1701T>G (p.Asn567Lys) | |
21 | g.25897657A>G | CA9987106 | APP | 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=) c.1869T>C (p.Asn623=) c.1701T>C (p.Asn567=) | dbSNP ExAC gnomAD |
21 | g.25897657A>T | CA409806562 | APP | 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) c.1869T>A (p.Asn623Lys) c.1701T>A (p.Asn567Lys) |