| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.33800124G>A | CA389412601 | NPAS3 | c.1817G>A (p.Arg606Gln) c.1826G>A (p.Arg609Gln) c.1717G>A c.793+2543G>A c.1721G>A (p.Arg574Gln) c.1778G>A (p.Arg593Gln) c.1727G>A (p.Arg576Gln) c.1832G>A (p.Arg611Gln) c.1739G>A (p.Arg580Gln) c.1838G>A (p.Arg613Gln) c.1868G>A (p.Arg623Gln) c.1859G>A (p.Arg620Gln) c.1829G>A (p.Arg610Gln) c.1772G>A (p.Arg591Gln) c.1718G>A (p.Arg573Gln) c.1511G>A (p.Arg504Gln) c.1925G>A (p.Arg642Gln) c.1919G>A (p.Arg640Gln) c.1916G>A (p.Arg639Gln) c.1976G>A (p.Arg659Gln) c.1967G>A (p.Arg656Gln) c.1886G>A (p.Arg629Gln) c.1835G>A (p.Arg612Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.33800124G>C | CA7150882 | NPAS3 | c.1817G>C (p.Arg606Pro) c.1826G>C (p.Arg609Pro) c.1717G>C c.793+2543G>C c.1721G>C (p.Arg574Pro) c.1778G>C (p.Arg593Pro) c.1727G>C (p.Arg576Pro) c.1832G>C (p.Arg611Pro) c.1739G>C (p.Arg580Pro) c.1838G>C (p.Arg613Pro) c.1868G>C (p.Arg623Pro) c.1859G>C (p.Arg620Pro) c.1829G>C (p.Arg610Pro) c.1772G>C (p.Arg591Pro) c.1718G>C (p.Arg573Pro) c.1511G>C (p.Arg504Pro) c.1925G>C (p.Arg642Pro) c.1919G>C (p.Arg640Pro) c.1916G>C (p.Arg639Pro) c.1976G>C (p.Arg659Pro) c.1967G>C (p.Arg656Pro) c.1886G>C (p.Arg629Pro) c.1835G>C (p.Arg612Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800124G= | CA2128326908 | NPAS3 | c.1817G= (p.Arg606=) c.1826G= (p.Arg609=) c.1717G= c.793+2543G= c.1721G= (p.Arg574=) c.1778G= (p.Arg593=) c.1727G= (p.Arg576=) c.1832G= (p.Arg611=) c.1739G= (p.Arg580=) c.1838G= (p.Arg613=) c.1868G= (p.Arg623=) c.1859G= (p.Arg620=) c.1829G= (p.Arg610=) c.1772G= (p.Arg591=) c.1718G= (p.Arg573=) c.1511G= (p.Arg504=) c.1925G= (p.Arg642=) c.1919G= (p.Arg640=) c.1916G= (p.Arg639=) c.1976G= (p.Arg659=) c.1967G= (p.Arg656=) c.1886G= (p.Arg629=) c.1835G= (p.Arg612=) | |
| 14 | g.33800124G>T | CA389412605 | NPAS3 | c.1817G>T (p.Arg606Leu) c.1826G>T (p.Arg609Leu) c.1717G>T c.793+2543G>T c.1721G>T (p.Arg574Leu) c.1778G>T (p.Arg593Leu) c.1727G>T (p.Arg576Leu) c.1832G>T (p.Arg611Leu) c.1739G>T (p.Arg580Leu) c.1838G>T (p.Arg613Leu) c.1868G>T (p.Arg623Leu) c.1859G>T (p.Arg620Leu) c.1829G>T (p.Arg610Leu) c.1772G>T (p.Arg591Leu) c.1718G>T (p.Arg573Leu) c.1511G>T (p.Arg504Leu) c.1925G>T (p.Arg642Leu) c.1919G>T (p.Arg640Leu) c.1916G>T (p.Arg639Leu) c.1976G>T (p.Arg659Leu) c.1967G>T (p.Arg656Leu) c.1886G>T (p.Arg629Leu) c.1835G>T (p.Arg612Leu) | gnomAD v4 |
| 14 | g.33800125G>A | CA486092801 | NPAS3 | c.1818G>A (p.Arg606=) c.1827G>A (p.Arg609=) c.1718G>A c.793+2544G>A c.1722G>A (p.Arg574=) c.1779G>A (p.Arg593=) c.1728G>A (p.Arg576=) c.1833G>A (p.Arg611=) c.1740G>A (p.Arg580=) c.1839G>A (p.Arg613=) c.1869G>A (p.Arg623=) c.1860G>A (p.Arg620=) c.1830G>A (p.Arg610=) c.1773G>A (p.Arg591=) c.1719G>A (p.Arg573=) c.1512G>A (p.Arg504=) c.1926G>A (p.Arg642=) c.1920G>A (p.Arg640=) c.1917G>A (p.Arg639=) c.1977G>A (p.Arg659=) c.1968G>A (p.Arg656=) c.1887G>A (p.Arg629=) c.1836G>A (p.Arg612=) | gnomAD v4 |
| 14 | g.33800125G>C | CA486092802 | NPAS3 | c.1818G>C (p.Arg606=) c.1827G>C (p.Arg609=) c.1718G>C c.793+2544G>C c.1722G>C (p.Arg574=) c.1779G>C (p.Arg593=) c.1728G>C (p.Arg576=) c.1833G>C (p.Arg611=) c.1740G>C (p.Arg580=) c.1839G>C (p.Arg613=) c.1869G>C (p.Arg623=) c.1860G>C (p.Arg620=) c.1830G>C (p.Arg610=) c.1773G>C (p.Arg591=) c.1719G>C (p.Arg573=) c.1512G>C (p.Arg504=) c.1926G>C (p.Arg642=) c.1920G>C (p.Arg640=) c.1917G>C (p.Arg639=) c.1977G>C (p.Arg659=) c.1968G>C (p.Arg656=) c.1887G>C (p.Arg629=) c.1836G>C (p.Arg612=) | |
| 14 | g.33800125G>T | CA486092804 | NPAS3 | c.1818G>T (p.Arg606=) c.1827G>T (p.Arg609=) c.1718G>T c.793+2544G>T c.1722G>T (p.Arg574=) c.1779G>T (p.Arg593=) c.1728G>T (p.Arg576=) c.1833G>T (p.Arg611=) c.1740G>T (p.Arg580=) c.1839G>T (p.Arg613=) c.1869G>T (p.Arg623=) c.1860G>T (p.Arg620=) c.1830G>T (p.Arg610=) c.1773G>T (p.Arg591=) c.1719G>T (p.Arg573=) c.1512G>T (p.Arg504=) c.1926G>T (p.Arg642=) c.1920G>T (p.Arg640=) c.1917G>T (p.Arg639=) c.1977G>T (p.Arg659=) c.1968G>T (p.Arg656=) c.1887G>T (p.Arg629=) c.1836G>T (p.Arg612=) | gnomAD v4 |
| 14 | g.33800126C>A | CA389412612 | NPAS3 | c.1819C>A (p.Gln607Lys) c.1828C>A (p.Gln610Lys) c.1719C>A c.793+2545C>A c.1723C>A (p.Gln575Lys) c.1780C>A (p.Gln594Lys) c.1729C>A (p.Gln577Lys) c.1834C>A (p.Gln612Lys) c.1741C>A (p.Gln581Lys) c.1840C>A (p.Gln614Lys) c.1870C>A (p.Gln624Lys) c.1861C>A (p.Gln621Lys) c.1831C>A (p.Gln611Lys) c.1774C>A (p.Gln592Lys) c.1720C>A (p.Gln574Lys) c.1513C>A (p.Gln505Lys) c.1927C>A (p.Gln643Lys) c.1921C>A (p.Gln641Lys) c.1918C>A (p.Gln640Lys) c.1978C>A (p.Gln660Lys) c.1969C>A (p.Gln657Lys) c.1888C>A (p.Gln630Lys) c.1837C>A (p.Gln613Lys) | |
| 14 | g.33800126C>G | CA389412613 | NPAS3 | c.1819C>G (p.Gln607Glu) c.1828C>G (p.Gln610Glu) c.1719C>G c.793+2545C>G c.1723C>G (p.Gln575Glu) c.1780C>G (p.Gln594Glu) c.1729C>G (p.Gln577Glu) c.1834C>G (p.Gln612Glu) c.1741C>G (p.Gln581Glu) c.1840C>G (p.Gln614Glu) c.1870C>G (p.Gln624Glu) c.1861C>G (p.Gln621Glu) c.1831C>G (p.Gln611Glu) c.1774C>G (p.Gln592Glu) c.1720C>G (p.Gln574Glu) c.1513C>G (p.Gln505Glu) c.1927C>G (p.Gln643Glu) c.1921C>G (p.Gln641Glu) c.1918C>G (p.Gln640Glu) c.1978C>G (p.Gln660Glu) c.1969C>G (p.Gln657Glu) c.1888C>G (p.Gln630Glu) c.1837C>G (p.Gln613Glu) | |
| 14 | g.33800126C>T | CA389412615 | NPAS3 | c.1819C>T (p.Gln607Ter) c.1828C>T (p.Gln610Ter) c.1719C>T c.793+2545C>T c.1723C>T (p.Gln575Ter) c.1780C>T (p.Gln594Ter) c.1729C>T (p.Gln577Ter) c.1834C>T (p.Gln612Ter) c.1741C>T (p.Gln581Ter) c.1840C>T (p.Gln614Ter) c.1870C>T (p.Gln624Ter) c.1861C>T (p.Gln621Ter) c.1831C>T (p.Gln611Ter) c.1774C>T (p.Gln592Ter) c.1720C>T (p.Gln574Ter) c.1513C>T (p.Gln505Ter) c.1927C>T (p.Gln643Ter) c.1921C>T (p.Gln641Ter) c.1918C>T (p.Gln640Ter) c.1978C>T (p.Gln660Ter) c.1969C>T (p.Gln657Ter) c.1888C>T (p.Gln630Ter) c.1837C>T (p.Gln613Ter) | |
| 14 | g.33800126_33800128delinsCAA | CA2128326912 | NPAS3 | c.1819_1821delinsCAA (p.Gln607=) c.1828_1830delinsCAA (p.Gln610=) c.1719_1721delinsCAA c.793+2545_793+2547delinsCAA c.1723_1725delinsCAA (p.Gln575=) c.1780_1782delinsCAA (p.Gln594=) c.1729_1731delinsCAA (p.Gln577=) c.1834_1836delinsCAA (p.Gln612=) c.1741_1743delinsCAA (p.Gln581=) c.1840_1842delinsCAA (p.Gln614=) c.1870_1872delinsCAA (p.Gln624=) c.1861_1863delinsCAA (p.Gln621=) c.1831_1833delinsCAA (p.Gln611=) c.1774_1776delinsCAA (p.Gln592=) c.1720_1722delinsCAA (p.Gln574=) c.1513_1515delinsCAA (p.Gln505=) c.1927_1929delinsCAA (p.Gln643=) c.1921_1923delinsCAA (p.Gln641=) c.1918_1920delinsCAA (p.Gln640=) c.1978_1980delinsCAA (p.Gln660=) c.1969_1971delinsCAA (p.Gln657=) c.1888_1890delinsCAA (p.Gln630=) c.1837_1839delinsCAA (p.Gln613=) | |
| 14 | g.33800127A>C | CA389412618 | NPAS3 | c.1820A>C (p.Gln607Pro) c.1829A>C (p.Gln610Pro) c.1720A>C c.793+2546A>C c.1724A>C (p.Gln575Pro) c.1781A>C (p.Gln594Pro) c.1730A>C (p.Gln577Pro) c.1835A>C (p.Gln612Pro) c.1742A>C (p.Gln581Pro) c.1841A>C (p.Gln614Pro) c.1871A>C (p.Gln624Pro) c.1862A>C (p.Gln621Pro) c.1832A>C (p.Gln611Pro) c.1775A>C (p.Gln592Pro) c.1721A>C (p.Gln574Pro) c.1514A>C (p.Gln505Pro) c.1928A>C (p.Gln643Pro) c.1922A>C (p.Gln641Pro) c.1919A>C (p.Gln640Pro) c.1979A>C (p.Gln660Pro) c.1970A>C (p.Gln657Pro) c.1889A>C (p.Gln630Pro) c.1838A>C (p.Gln613Pro) | |
| 14 | g.33800127A>G | CA389412624 | NPAS3 | c.1820A>G (p.Gln607Arg) c.1829A>G (p.Gln610Arg) c.1720A>G c.793+2546A>G c.1724A>G (p.Gln575Arg) c.1781A>G (p.Gln594Arg) c.1730A>G (p.Gln577Arg) c.1835A>G (p.Gln612Arg) c.1742A>G (p.Gln581Arg) c.1841A>G (p.Gln614Arg) c.1871A>G (p.Gln624Arg) c.1862A>G (p.Gln621Arg) c.1832A>G (p.Gln611Arg) c.1775A>G (p.Gln592Arg) c.1721A>G (p.Gln574Arg) c.1514A>G (p.Gln505Arg) c.1928A>G (p.Gln643Arg) c.1922A>G (p.Gln641Arg) c.1919A>G (p.Gln640Arg) c.1979A>G (p.Gln660Arg) c.1970A>G (p.Gln657Arg) c.1889A>G (p.Gln630Arg) c.1838A>G (p.Gln613Arg) | |
| 14 | g.33800127A>T | CA389412621 | NPAS3 | c.1820A>T (p.Gln607Leu) c.1829A>T (p.Gln610Leu) c.1720A>T c.793+2546A>T c.1724A>T (p.Gln575Leu) c.1781A>T (p.Gln594Leu) c.1730A>T (p.Gln577Leu) c.1835A>T (p.Gln612Leu) c.1742A>T (p.Gln581Leu) c.1841A>T (p.Gln614Leu) c.1871A>T (p.Gln624Leu) c.1862A>T (p.Gln621Leu) c.1832A>T (p.Gln611Leu) c.1775A>T (p.Gln592Leu) c.1721A>T (p.Gln574Leu) c.1514A>T (p.Gln505Leu) c.1928A>T (p.Gln643Leu) c.1922A>T (p.Gln641Leu) c.1919A>T (p.Gln640Leu) c.1979A>T (p.Gln660Leu) c.1970A>T (p.Gln657Leu) c.1889A>T (p.Gln630Leu) c.1838A>T (p.Gln613Leu) | |
| 14 | g.33800130del | CA2624512027 | NPAS3 | c.1823del (p.Lys608ArgfsTer?) c.1832del (p.Lys611ArgfsTer?) c.1723del c.793+2549del c.1727del (p.Lys576ArgfsTer?) c.1784del (p.Lys595ArgfsTer?) c.1733del (p.Lys578ArgfsTer?) c.1838del (p.Lys613ArgfsTer?) c.1745del (p.Lys582ArgfsTer?) c.1844del (p.Lys615ArgfsTer?) c.1874del (p.Lys625ArgfsTer?) c.1865del (p.Lys622ArgfsTer?) c.1835del (p.Lys612ArgfsTer?) c.1778del (p.Lys593ArgfsTer?) c.1724del (p.Lys575ArgfsTer?) c.1517del (p.Lys506ArgfsTer?) c.1931del (p.Lys644ArgfsTer?) c.1925del (p.Lys642ArgfsTer?) c.1922del (p.Lys641ArgfsTer?) c.1982del (p.Lys661ArgfsTer?) c.1973del (p.Lys658ArgfsTer?) c.1892del (p.Lys631ArgfsTer?) c.1841del (p.Lys614ArgfsTer?) | gnomAD v4 |
| 14 | g.33800129_33800130del | CA7150883 | NPAS3 | c.1822_1823del (p.Lys608GlyfsTer?) c.1831_1832del (p.Lys611GlyfsTer?) c.1722_1723del c.793+2548_793+2549del c.1726_1727del (p.Lys576GlyfsTer?) c.1783_1784del (p.Lys595GlyfsTer?) c.1732_1733del (p.Lys578GlyfsTer?) c.1837_1838del (p.Lys613GlyfsTer?) c.1744_1745del (p.Lys582GlyfsTer?) c.1843_1844del (p.Lys615GlyfsTer?) c.1873_1874del (p.Lys625GlyfsTer?) c.1864_1865del (p.Lys622GlyfsTer?) c.1834_1835del (p.Lys612GlyfsTer?) c.1777_1778del (p.Lys593GlyfsTer?) c.1723_1724del (p.Lys575GlyfsTer?) c.1516_1517del (p.Lys506GlyfsTer?) c.1930_1931del (p.Lys644GlyfsTer?) c.1924_1925del (p.Lys642GlyfsTer?) c.1921_1922del (p.Lys641GlyfsTer?) c.1981_1982del (p.Lys661GlyfsTer?) c.1972_1973del (p.Lys658GlyfsTer?) c.1891_1892del (p.Lys631GlyfsTer?) c.1840_1841del (p.Lys614GlyfsTer?) | dbSNP ExAC |
| 14 | g.33800128A>C | CA389412628 | NPAS3 | c.1821A>C (p.Gln607His) c.1830A>C (p.Gln610His) c.1721A>C c.793+2547A>C c.1725A>C (p.Gln575His) c.1782A>C (p.Gln594His) c.1731A>C (p.Gln577His) c.1836A>C (p.Gln612His) c.1743A>C (p.Gln581His) c.1842A>C (p.Gln614His) c.1872A>C (p.Gln624His) c.1863A>C (p.Gln621His) c.1833A>C (p.Gln611His) c.1776A>C (p.Gln592His) c.1722A>C (p.Gln574His) c.1515A>C (p.Gln505His) c.1929A>C (p.Gln643His) c.1923A>C (p.Gln641His) c.1920A>C (p.Gln640His) c.1980A>C (p.Gln660His) c.1971A>C (p.Gln657His) c.1890A>C (p.Gln630His) c.1839A>C (p.Gln613His) | |
| 14 | g.33800128A>G | CA486092809 | NPAS3 | c.1821A>G (p.Gln607=) c.1830A>G (p.Gln610=) c.1721A>G c.793+2547A>G c.1725A>G (p.Gln575=) c.1782A>G (p.Gln594=) c.1731A>G (p.Gln577=) c.1836A>G (p.Gln612=) c.1743A>G (p.Gln581=) c.1842A>G (p.Gln614=) c.1872A>G (p.Gln624=) c.1863A>G (p.Gln621=) c.1833A>G (p.Gln611=) c.1776A>G (p.Gln592=) c.1722A>G (p.Gln574=) c.1515A>G (p.Gln505=) c.1929A>G (p.Gln643=) c.1923A>G (p.Gln641=) c.1920A>G (p.Gln640=) c.1980A>G (p.Gln660=) c.1971A>G (p.Gln657=) c.1890A>G (p.Gln630=) c.1839A>G (p.Gln613=) | |
| 14 | g.33800128A>T | CA389412631 | NPAS3 | c.1821A>T (p.Gln607His) c.1830A>T (p.Gln610His) c.1721A>T c.793+2547A>T c.1725A>T (p.Gln575His) c.1782A>T (p.Gln594His) c.1731A>T (p.Gln577His) c.1836A>T (p.Gln612His) c.1743A>T (p.Gln581His) c.1842A>T (p.Gln614His) c.1872A>T (p.Gln624His) c.1863A>T (p.Gln621His) c.1833A>T (p.Gln611His) c.1776A>T (p.Gln592His) c.1722A>T (p.Gln574His) c.1515A>T (p.Gln505His) c.1929A>T (p.Gln643His) c.1923A>T (p.Gln641His) c.1920A>T (p.Gln640His) c.1980A>T (p.Gln660His) c.1971A>T (p.Gln657His) c.1890A>T (p.Gln630His) c.1839A>T (p.Gln613His) | |
| 14 | g.33800129A>C | CA389412634 | NPAS3 | c.1822A>C (p.Lys608Gln) c.1831A>C (p.Lys611Gln) c.1722A>C c.793+2548A>C c.1726A>C (p.Lys576Gln) c.1783A>C (p.Lys595Gln) c.1732A>C (p.Lys578Gln) c.1837A>C (p.Lys613Gln) c.1744A>C (p.Lys582Gln) c.1843A>C (p.Lys615Gln) c.1873A>C (p.Lys625Gln) c.1864A>C (p.Lys622Gln) c.1834A>C (p.Lys612Gln) c.1777A>C (p.Lys593Gln) c.1723A>C (p.Lys575Gln) c.1516A>C (p.Lys506Gln) c.1930A>C (p.Lys644Gln) c.1924A>C (p.Lys642Gln) c.1921A>C (p.Lys641Gln) c.1981A>C (p.Lys661Gln) c.1972A>C (p.Lys658Gln) c.1891A>C (p.Lys631Gln) c.1840A>C (p.Lys614Gln) | |
| 14 | g.33800129A>G | CA389412637 | NPAS3 | c.1822A>G (p.Lys608Glu) c.1831A>G (p.Lys611Glu) c.1722A>G c.793+2548A>G c.1726A>G (p.Lys576Glu) c.1783A>G (p.Lys595Glu) c.1732A>G (p.Lys578Glu) c.1837A>G (p.Lys613Glu) c.1744A>G (p.Lys582Glu) c.1843A>G (p.Lys615Glu) c.1873A>G (p.Lys625Glu) c.1864A>G (p.Lys622Glu) c.1834A>G (p.Lys612Glu) c.1777A>G (p.Lys593Glu) c.1723A>G (p.Lys575Glu) c.1516A>G (p.Lys506Glu) c.1930A>G (p.Lys644Glu) c.1924A>G (p.Lys642Glu) c.1921A>G (p.Lys641Glu) c.1981A>G (p.Lys661Glu) c.1972A>G (p.Lys658Glu) c.1891A>G (p.Lys631Glu) c.1840A>G (p.Lys614Glu) | gnomAD v4 |
| 14 | g.33800129A>T | CA389412638 | NPAS3 | c.1822A>T (p.Lys608Ter) c.1831A>T (p.Lys611Ter) c.1722A>T c.793+2548A>T c.1726A>T (p.Lys576Ter) c.1783A>T (p.Lys595Ter) c.1732A>T (p.Lys578Ter) c.1837A>T (p.Lys613Ter) c.1744A>T (p.Lys582Ter) c.1843A>T (p.Lys615Ter) c.1873A>T (p.Lys625Ter) c.1864A>T (p.Lys622Ter) c.1834A>T (p.Lys612Ter) c.1777A>T (p.Lys593Ter) c.1723A>T (p.Lys575Ter) c.1516A>T (p.Lys506Ter) c.1930A>T (p.Lys644Ter) c.1924A>T (p.Lys642Ter) c.1921A>T (p.Lys641Ter) c.1981A>T (p.Lys661Ter) c.1972A>T (p.Lys658Ter) c.1891A>T (p.Lys631Ter) c.1840A>T (p.Lys614Ter) | |
| 14 | g.33800130A>C | CA389412642 | NPAS3 | c.1823A>C (p.Lys608Thr) c.1832A>C (p.Lys611Thr) c.1723A>C c.793+2549A>C c.1727A>C (p.Lys576Thr) c.1784A>C (p.Lys595Thr) c.1733A>C (p.Lys578Thr) c.1838A>C (p.Lys613Thr) c.1745A>C (p.Lys582Thr) c.1844A>C (p.Lys615Thr) c.1874A>C (p.Lys625Thr) c.1865A>C (p.Lys622Thr) c.1835A>C (p.Lys612Thr) c.1778A>C (p.Lys593Thr) c.1724A>C (p.Lys575Thr) c.1517A>C (p.Lys506Thr) c.1931A>C (p.Lys644Thr) c.1925A>C (p.Lys642Thr) c.1922A>C (p.Lys641Thr) c.1982A>C (p.Lys661Thr) c.1973A>C (p.Lys658Thr) c.1892A>C (p.Lys631Thr) c.1841A>C (p.Lys614Thr) | |
| 14 | g.33800130A>G | CA389412644 | NPAS3 | c.1823A>G (p.Lys608Arg) c.1832A>G (p.Lys611Arg) c.1723A>G c.793+2549A>G c.1727A>G (p.Lys576Arg) c.1784A>G (p.Lys595Arg) c.1733A>G (p.Lys578Arg) c.1838A>G (p.Lys613Arg) c.1745A>G (p.Lys582Arg) c.1844A>G (p.Lys615Arg) c.1874A>G (p.Lys625Arg) c.1865A>G (p.Lys622Arg) c.1835A>G (p.Lys612Arg) c.1778A>G (p.Lys593Arg) c.1724A>G (p.Lys575Arg) c.1517A>G (p.Lys506Arg) c.1931A>G (p.Lys644Arg) c.1925A>G (p.Lys642Arg) c.1922A>G (p.Lys641Arg) c.1982A>G (p.Lys661Arg) c.1973A>G (p.Lys658Arg) c.1892A>G (p.Lys631Arg) c.1841A>G (p.Lys614Arg) | gnomAD v4 |
| 14 | g.33800130A>T | CA389412649 | NPAS3 | c.1823A>T (p.Lys608Met) c.1832A>T (p.Lys611Met) c.1723A>T c.793+2549A>T c.1727A>T (p.Lys576Met) c.1784A>T (p.Lys595Met) c.1733A>T (p.Lys578Met) c.1838A>T (p.Lys613Met) c.1745A>T (p.Lys582Met) c.1844A>T (p.Lys615Met) c.1874A>T (p.Lys625Met) c.1865A>T (p.Lys622Met) c.1835A>T (p.Lys612Met) c.1778A>T (p.Lys593Met) c.1724A>T (p.Lys575Met) c.1517A>T (p.Lys506Met) c.1931A>T (p.Lys644Met) c.1925A>T (p.Lys642Met) c.1922A>T (p.Lys641Met) c.1982A>T (p.Lys661Met) c.1973A>T (p.Lys658Met) c.1892A>T (p.Lys631Met) c.1841A>T (p.Lys614Met) | |
| 14 | g.33800131G>A | CA486092811 | NPAS3 | c.1824G>A (p.Lys608=) c.1833G>A (p.Lys611=) c.1724G>A c.793+2550G>A c.1728G>A (p.Lys576=) c.1785G>A (p.Lys595=) c.1734G>A (p.Lys578=) c.1839G>A (p.Lys613=) c.1746G>A (p.Lys582=) c.1845G>A (p.Lys615=) c.1875G>A (p.Lys625=) c.1866G>A (p.Lys622=) c.1836G>A (p.Lys612=) c.1779G>A (p.Lys593=) c.1725G>A (p.Lys575=) c.1518G>A (p.Lys506=) c.1932G>A (p.Lys644=) c.1926G>A (p.Lys642=) c.1923G>A (p.Lys641=) c.1983G>A (p.Lys661=) c.1974G>A (p.Lys658=) c.1893G>A (p.Lys631=) c.1842G>A (p.Lys614=) | gnomAD v4 |
| 14 | g.33800131G>C | CA389412653 | NPAS3 | c.1824G>C (p.Lys608Asn) c.1833G>C (p.Lys611Asn) c.1724G>C c.793+2550G>C c.1728G>C (p.Lys576Asn) c.1785G>C (p.Lys595Asn) c.1734G>C (p.Lys578Asn) c.1839G>C (p.Lys613Asn) c.1746G>C (p.Lys582Asn) c.1845G>C (p.Lys615Asn) c.1875G>C (p.Lys625Asn) c.1866G>C (p.Lys622Asn) c.1836G>C (p.Lys612Asn) c.1779G>C (p.Lys593Asn) c.1725G>C (p.Lys575Asn) c.1518G>C (p.Lys506Asn) c.1932G>C (p.Lys644Asn) c.1926G>C (p.Lys642Asn) c.1923G>C (p.Lys641Asn) c.1983G>C (p.Lys661Asn) c.1974G>C (p.Lys658Asn) c.1893G>C (p.Lys631Asn) c.1842G>C (p.Lys614Asn) | |
| 14 | g.33800131G>T | CA389412656 | NPAS3 | c.1824G>T (p.Lys608Asn) c.1833G>T (p.Lys611Asn) c.1724G>T c.793+2550G>T c.1728G>T (p.Lys576Asn) c.1785G>T (p.Lys595Asn) c.1734G>T (p.Lys578Asn) c.1839G>T (p.Lys613Asn) c.1746G>T (p.Lys582Asn) c.1845G>T (p.Lys615Asn) c.1875G>T (p.Lys625Asn) c.1866G>T (p.Lys622Asn) c.1836G>T (p.Lys612Asn) c.1779G>T (p.Lys593Asn) c.1725G>T (p.Lys575Asn) c.1518G>T (p.Lys506Asn) c.1932G>T (p.Lys644Asn) c.1926G>T (p.Lys642Asn) c.1923G>T (p.Lys641Asn) c.1983G>T (p.Lys661Asn) c.1974G>T (p.Lys658Asn) c.1893G>T (p.Lys631Asn) c.1842G>T (p.Lys614Asn) | gnomAD v4 |
| 14 | g.33800132G>A | CA7150884 | NPAS3 | c.1825G>A (p.Gly609Ser) c.1834G>A (p.Gly612Ser) c.1725G>A c.793+2551G>A c.1729G>A (p.Gly577Ser) c.1786G>A (p.Gly596Ser) c.1735G>A (p.Gly579Ser) c.1840G>A (p.Gly614Ser) c.1747G>A (p.Gly583Ser) c.1846G>A (p.Gly616Ser) c.1876G>A (p.Gly626Ser) c.1867G>A (p.Gly623Ser) c.1837G>A (p.Gly613Ser) c.1780G>A (p.Gly594Ser) c.1726G>A (p.Gly576Ser) c.1519G>A (p.Gly507Ser) c.1933G>A (p.Gly645Ser) c.1927G>A (p.Gly643Ser) c.1924G>A (p.Gly642Ser) c.1984G>A (p.Gly662Ser) c.1975G>A (p.Gly659Ser) c.1894G>A (p.Gly632Ser) c.1843G>A (p.Gly615Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800132G>C | CA389412661 | NPAS3 | c.1825G>C (p.Gly609Arg) c.1834G>C (p.Gly612Arg) c.1725G>C c.793+2551G>C c.1729G>C (p.Gly577Arg) c.1786G>C (p.Gly596Arg) c.1735G>C (p.Gly579Arg) c.1840G>C (p.Gly614Arg) c.1747G>C (p.Gly583Arg) c.1846G>C (p.Gly616Arg) c.1876G>C (p.Gly626Arg) c.1867G>C (p.Gly623Arg) c.1837G>C (p.Gly613Arg) c.1780G>C (p.Gly594Arg) c.1726G>C (p.Gly576Arg) c.1519G>C (p.Gly507Arg) c.1933G>C (p.Gly645Arg) c.1927G>C (p.Gly643Arg) c.1924G>C (p.Gly642Arg) c.1984G>C (p.Gly662Arg) c.1975G>C (p.Gly659Arg) c.1894G>C (p.Gly632Arg) c.1843G>C (p.Gly615Arg) | |
| 14 | g.33800132G= | CA2128326922 | NPAS3 | c.1825G= (p.Gly609=) c.1834G= (p.Gly612=) c.1725G= c.793+2551G= c.1729G= (p.Gly577=) c.1786G= (p.Gly596=) c.1735G= (p.Gly579=) c.1840G= (p.Gly614=) c.1747G= (p.Gly583=) c.1846G= (p.Gly616=) c.1876G= (p.Gly626=) c.1867G= (p.Gly623=) c.1837G= (p.Gly613=) c.1780G= (p.Gly594=) c.1726G= (p.Gly576=) c.1519G= (p.Gly507=) c.1933G= (p.Gly645=) c.1927G= (p.Gly643=) c.1924G= (p.Gly642=) c.1984G= (p.Gly662=) c.1975G= (p.Gly659=) c.1894G= (p.Gly632=) c.1843G= (p.Gly615=) | |
| 14 | g.33800132G>T | CA7150885 | NPAS3 | c.1825G>T (p.Gly609Cys) c.1834G>T (p.Gly612Cys) c.1725G>T c.793+2551G>T c.1729G>T (p.Gly577Cys) c.1786G>T (p.Gly596Cys) c.1735G>T (p.Gly579Cys) c.1840G>T (p.Gly614Cys) c.1747G>T (p.Gly583Cys) c.1846G>T (p.Gly616Cys) c.1876G>T (p.Gly626Cys) c.1867G>T (p.Gly623Cys) c.1837G>T (p.Gly613Cys) c.1780G>T (p.Gly594Cys) c.1726G>T (p.Gly576Cys) c.1519G>T (p.Gly507Cys) c.1933G>T (p.Gly645Cys) c.1927G>T (p.Gly643Cys) c.1924G>T (p.Gly642Cys) c.1984G>T (p.Gly662Cys) c.1975G>T (p.Gly659Cys) c.1894G>T (p.Gly632Cys) c.1843G>T (p.Gly615Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800133G>A | CA389412664 | NPAS3 | c.1826G>A (p.Gly609Asp) c.1835G>A (p.Gly612Asp) c.1726G>A c.793+2552G>A c.1730G>A (p.Gly577Asp) c.1787G>A (p.Gly596Asp) c.1736G>A (p.Gly579Asp) c.1841G>A (p.Gly614Asp) c.1748G>A (p.Gly583Asp) c.1847G>A (p.Gly616Asp) c.1877G>A (p.Gly626Asp) c.1868G>A (p.Gly623Asp) c.1838G>A (p.Gly613Asp) c.1781G>A (p.Gly594Asp) c.1727G>A (p.Gly576Asp) c.1520G>A (p.Gly507Asp) c.1934G>A (p.Gly645Asp) c.1928G>A (p.Gly643Asp) c.1925G>A (p.Gly642Asp) c.1985G>A (p.Gly662Asp) c.1976G>A (p.Gly659Asp) c.1895G>A (p.Gly632Asp) c.1844G>A (p.Gly615Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800133G>C | CA389412667 | NPAS3 | c.1826G>C (p.Gly609Ala) c.1835G>C (p.Gly612Ala) c.1726G>C c.793+2552G>C c.1730G>C (p.Gly577Ala) c.1787G>C (p.Gly596Ala) c.1736G>C (p.Gly579Ala) c.1841G>C (p.Gly614Ala) c.1748G>C (p.Gly583Ala) c.1847G>C (p.Gly616Ala) c.1877G>C (p.Gly626Ala) c.1868G>C (p.Gly623Ala) c.1838G>C (p.Gly613Ala) c.1781G>C (p.Gly594Ala) c.1727G>C (p.Gly576Ala) c.1520G>C (p.Gly507Ala) c.1934G>C (p.Gly645Ala) c.1928G>C (p.Gly643Ala) c.1925G>C (p.Gly642Ala) c.1985G>C (p.Gly662Ala) c.1976G>C (p.Gly659Ala) c.1895G>C (p.Gly632Ala) c.1844G>C (p.Gly615Ala) | |
| 14 | g.33800133G= | CA2128326926 | NPAS3 | c.1826G= (p.Gly609=) c.1835G= (p.Gly612=) c.1726G= c.793+2552G= c.1730G= (p.Gly577=) c.1787G= (p.Gly596=) c.1736G= (p.Gly579=) c.1841G= (p.Gly614=) c.1748G= (p.Gly583=) c.1847G= (p.Gly616=) c.1877G= (p.Gly626=) c.1868G= (p.Gly623=) c.1838G= (p.Gly613=) c.1781G= (p.Gly594=) c.1727G= (p.Gly576=) c.1520G= (p.Gly507=) c.1934G= (p.Gly645=) c.1928G= (p.Gly643=) c.1925G= (p.Gly642=) c.1985G= (p.Gly662=) c.1976G= (p.Gly659=) c.1895G= (p.Gly632=) c.1844G= (p.Gly615=) | |
| 14 | g.33800133G>T | CA389412673 | NPAS3 | c.1826G>T (p.Gly609Val) c.1835G>T (p.Gly612Val) c.1726G>T c.793+2552G>T c.1730G>T (p.Gly577Val) c.1787G>T (p.Gly596Val) c.1736G>T (p.Gly579Val) c.1841G>T (p.Gly614Val) c.1748G>T (p.Gly583Val) c.1847G>T (p.Gly616Val) c.1877G>T (p.Gly626Val) c.1868G>T (p.Gly623Val) c.1838G>T (p.Gly613Val) c.1781G>T (p.Gly594Val) c.1727G>T (p.Gly576Val) c.1520G>T (p.Gly507Val) c.1934G>T (p.Gly645Val) c.1928G>T (p.Gly643Val) c.1925G>T (p.Gly642Val) c.1985G>T (p.Gly662Val) c.1976G>T (p.Gly659Val) c.1895G>T (p.Gly632Val) c.1844G>T (p.Gly615Val) | |
| 14 | g.33800134C>A | CA486092814 | NPAS3 | c.1827C>A (p.Gly609=) c.1836C>A (p.Gly612=) c.1727C>A c.793+2553C>A c.1731C>A (p.Gly577=) c.1788C>A (p.Gly596=) c.1737C>A (p.Gly579=) c.1842C>A (p.Gly614=) c.1749C>A (p.Gly583=) c.1848C>A (p.Gly616=) c.1878C>A (p.Gly626=) c.1869C>A (p.Gly623=) c.1839C>A (p.Gly613=) c.1782C>A (p.Gly594=) c.1728C>A (p.Gly576=) c.1521C>A (p.Gly507=) c.1935C>A (p.Gly645=) c.1929C>A (p.Gly643=) c.1926C>A (p.Gly642=) c.1986C>A (p.Gly662=) c.1977C>A (p.Gly659=) c.1896C>A (p.Gly632=) c.1845C>A (p.Gly615=) | dbSNP |
| 14 | g.33800134C= | CA2128326930 | NPAS3 | c.1827C= (p.Gly609=) c.1836C= (p.Gly612=) c.1727C= c.793+2553C= c.1731C= (p.Gly577=) c.1788C= (p.Gly596=) c.1737C= (p.Gly579=) c.1842C= (p.Gly614=) c.1749C= (p.Gly583=) c.1848C= (p.Gly616=) c.1878C= (p.Gly626=) c.1869C= (p.Gly623=) c.1839C= (p.Gly613=) c.1782C= (p.Gly594=) c.1728C= (p.Gly576=) c.1521C= (p.Gly507=) c.1935C= (p.Gly645=) c.1929C= (p.Gly643=) c.1926C= (p.Gly642=) c.1986C= (p.Gly662=) c.1977C= (p.Gly659=) c.1896C= (p.Gly632=) c.1845C= (p.Gly615=) | |
| 14 | g.33800134C>G | CA486092815 | NPAS3 | c.1827C>G (p.Gly609=) c.1836C>G (p.Gly612=) c.1727C>G c.793+2553C>G c.1731C>G (p.Gly577=) c.1788C>G (p.Gly596=) c.1737C>G (p.Gly579=) c.1842C>G (p.Gly614=) c.1749C>G (p.Gly583=) c.1848C>G (p.Gly616=) c.1878C>G (p.Gly626=) c.1869C>G (p.Gly623=) c.1839C>G (p.Gly613=) c.1782C>G (p.Gly594=) c.1728C>G (p.Gly576=) c.1521C>G (p.Gly507=) c.1935C>G (p.Gly645=) c.1929C>G (p.Gly643=) c.1926C>G (p.Gly642=) c.1986C>G (p.Gly662=) c.1977C>G (p.Gly659=) c.1896C>G (p.Gly632=) c.1845C>G (p.Gly615=) | |
| 14 | g.33800134C>T | CA7150886 | NPAS3 | c.1827C>T (p.Gly609=) c.1836C>T (p.Gly612=) c.1727C>T c.793+2553C>T c.1731C>T (p.Gly577=) c.1788C>T (p.Gly596=) c.1737C>T (p.Gly579=) c.1842C>T (p.Gly614=) c.1749C>T (p.Gly583=) c.1848C>T (p.Gly616=) c.1878C>T (p.Gly626=) c.1869C>T (p.Gly623=) c.1839C>T (p.Gly613=) c.1782C>T (p.Gly594=) c.1728C>T (p.Gly576=) c.1521C>T (p.Gly507=) c.1935C>T (p.Gly645=) c.1929C>T (p.Gly643=) c.1926C>T (p.Gly642=) c.1986C>T (p.Gly662=) c.1977C>T (p.Gly659=) c.1896C>T (p.Gly632=) c.1845C>T (p.Gly615=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.33800135G>A | CA7150887 | NPAS3 | c.1828G>A (p.Gly610Ser) c.1837G>A (p.Gly613Ser) c.1728G>A c.793+2554G>A c.1732G>A (p.Gly578Ser) c.1789G>A (p.Gly597Ser) c.1738G>A (p.Gly580Ser) c.1843G>A (p.Gly615Ser) c.1750G>A (p.Gly584Ser) c.1849G>A (p.Gly617Ser) c.1879G>A (p.Gly627Ser) c.1870G>A (p.Gly624Ser) c.1840G>A (p.Gly614Ser) c.1783G>A (p.Gly595Ser) c.1729G>A (p.Gly577Ser) c.1522G>A (p.Gly508Ser) c.1936G>A (p.Gly646Ser) c.1930G>A (p.Gly644Ser) c.1927G>A (p.Gly643Ser) c.1987G>A (p.Gly663Ser) c.1978G>A (p.Gly660Ser) c.1897G>A (p.Gly633Ser) c.1846G>A (p.Gly616Ser) | dbSNP ExAC gnomAD v4 |
| 14 | g.33800135G>C | CA389412682 | NPAS3 | c.1828G>C (p.Gly610Arg) c.1837G>C (p.Gly613Arg) c.1728G>C c.793+2554G>C c.1732G>C (p.Gly578Arg) c.1789G>C (p.Gly597Arg) c.1738G>C (p.Gly580Arg) c.1843G>C (p.Gly615Arg) c.1750G>C (p.Gly584Arg) c.1849G>C (p.Gly617Arg) c.1879G>C (p.Gly627Arg) c.1870G>C (p.Gly624Arg) c.1840G>C (p.Gly614Arg) c.1783G>C (p.Gly595Arg) c.1729G>C (p.Gly577Arg) c.1522G>C (p.Gly508Arg) c.1936G>C (p.Gly646Arg) c.1930G>C (p.Gly644Arg) c.1927G>C (p.Gly643Arg) c.1987G>C (p.Gly663Arg) c.1978G>C (p.Gly660Arg) c.1897G>C (p.Gly633Arg) c.1846G>C (p.Gly616Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800135G= | CA2128326934 | NPAS3 | c.1828G= (p.Gly610=) c.1837G= (p.Gly613=) c.1728G= c.793+2554G= c.1732G= (p.Gly578=) c.1789G= (p.Gly597=) c.1738G= (p.Gly580=) c.1843G= (p.Gly615=) c.1750G= (p.Gly584=) c.1849G= (p.Gly617=) c.1879G= (p.Gly627=) c.1870G= (p.Gly624=) c.1840G= (p.Gly614=) c.1783G= (p.Gly595=) c.1729G= (p.Gly577=) c.1522G= (p.Gly508=) c.1936G= (p.Gly646=) c.1930G= (p.Gly644=) c.1927G= (p.Gly643=) c.1987G= (p.Gly663=) c.1978G= (p.Gly660=) c.1897G= (p.Gly633=) c.1846G= (p.Gly616=) | |
| 14 | g.33800135G>T | CA389412683 | NPAS3 | c.1828G>T (p.Gly610Cys) c.1837G>T (p.Gly613Cys) c.1728G>T c.793+2554G>T c.1732G>T (p.Gly578Cys) c.1789G>T (p.Gly597Cys) c.1738G>T (p.Gly580Cys) c.1843G>T (p.Gly615Cys) c.1750G>T (p.Gly584Cys) c.1849G>T (p.Gly617Cys) c.1879G>T (p.Gly627Cys) c.1870G>T (p.Gly624Cys) c.1840G>T (p.Gly614Cys) c.1783G>T (p.Gly595Cys) c.1729G>T (p.Gly577Cys) c.1522G>T (p.Gly508Cys) c.1936G>T (p.Gly646Cys) c.1930G>T (p.Gly644Cys) c.1927G>T (p.Gly643Cys) c.1987G>T (p.Gly663Cys) c.1978G>T (p.Gly660Cys) c.1897G>T (p.Gly633Cys) c.1846G>T (p.Gly616Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800136G>A | CA389412684 | NPAS3 | c.1829G>A (p.Gly610Asp) c.1838G>A (p.Gly613Asp) c.1729G>A c.793+2555G>A c.1733G>A (p.Gly578Asp) c.1790G>A (p.Gly597Asp) c.1739G>A (p.Gly580Asp) c.1844G>A (p.Gly615Asp) c.1751G>A (p.Gly584Asp) c.1850G>A (p.Gly617Asp) c.1880G>A (p.Gly627Asp) c.1871G>A (p.Gly624Asp) c.1841G>A (p.Gly614Asp) c.1784G>A (p.Gly595Asp) c.1730G>A (p.Gly577Asp) c.1523G>A (p.Gly508Asp) c.1937G>A (p.Gly646Asp) c.1931G>A (p.Gly644Asp) c.1928G>A (p.Gly643Asp) c.1988G>A (p.Gly663Asp) c.1979G>A (p.Gly660Asp) c.1898G>A (p.Gly633Asp) c.1847G>A (p.Gly616Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800136G>C | CA389412685 | NPAS3 | c.1829G>C (p.Gly610Ala) c.1838G>C (p.Gly613Ala) c.1729G>C c.793+2555G>C c.1733G>C (p.Gly578Ala) c.1790G>C (p.Gly597Ala) c.1739G>C (p.Gly580Ala) c.1844G>C (p.Gly615Ala) c.1751G>C (p.Gly584Ala) c.1850G>C (p.Gly617Ala) c.1880G>C (p.Gly627Ala) c.1871G>C (p.Gly624Ala) c.1841G>C (p.Gly614Ala) c.1784G>C (p.Gly595Ala) c.1730G>C (p.Gly577Ala) c.1523G>C (p.Gly508Ala) c.1937G>C (p.Gly646Ala) c.1931G>C (p.Gly644Ala) c.1928G>C (p.Gly643Ala) c.1988G>C (p.Gly663Ala) c.1979G>C (p.Gly660Ala) c.1898G>C (p.Gly633Ala) c.1847G>C (p.Gly616Ala) | |
| 14 | g.33800136G= | CA2128326937 | NPAS3 | c.1829G= (p.Gly610=) c.1838G= (p.Gly613=) c.1729G= c.793+2555G= c.1733G= (p.Gly578=) c.1790G= (p.Gly597=) c.1739G= (p.Gly580=) c.1844G= (p.Gly615=) c.1751G= (p.Gly584=) c.1850G= (p.Gly617=) c.1880G= (p.Gly627=) c.1871G= (p.Gly624=) c.1841G= (p.Gly614=) c.1784G= (p.Gly595=) c.1730G= (p.Gly577=) c.1523G= (p.Gly508=) c.1937G= (p.Gly646=) c.1931G= (p.Gly644=) c.1928G= (p.Gly643=) c.1988G= (p.Gly663=) c.1979G= (p.Gly660=) c.1898G= (p.Gly633=) c.1847G= (p.Gly616=) | |
| 14 | g.33800136G>T | CA7150888 | NPAS3 | c.1829G>T (p.Gly610Val) c.1838G>T (p.Gly613Val) c.1729G>T c.793+2555G>T c.1733G>T (p.Gly578Val) c.1790G>T (p.Gly597Val) c.1739G>T (p.Gly580Val) c.1844G>T (p.Gly615Val) c.1751G>T (p.Gly584Val) c.1850G>T (p.Gly617Val) c.1880G>T (p.Gly627Val) c.1871G>T (p.Gly624Val) c.1841G>T (p.Gly614Val) c.1784G>T (p.Gly595Val) c.1730G>T (p.Gly577Val) c.1523G>T (p.Gly508Val) c.1937G>T (p.Gly646Val) c.1931G>T (p.Gly644Val) c.1928G>T (p.Gly643Val) c.1988G>T (p.Gly663Val) c.1979G>T (p.Gly660Val) c.1898G>T (p.Gly633Val) c.1847G>T (p.Gly616Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800137C>A | CA486092817 | NPAS3 | c.1830C>A (p.Gly610=) c.1839C>A (p.Gly613=) c.1730C>A c.793+2556C>A c.1734C>A (p.Gly578=) c.1791C>A (p.Gly597=) c.1740C>A (p.Gly580=) c.1845C>A (p.Gly615=) c.1752C>A (p.Gly584=) c.1851C>A (p.Gly617=) c.1881C>A (p.Gly627=) c.1872C>A (p.Gly624=) c.1842C>A (p.Gly614=) c.1785C>A (p.Gly595=) c.1731C>A (p.Gly577=) c.1524C>A (p.Gly508=) c.1938C>A (p.Gly646=) c.1932C>A (p.Gly644=) c.1929C>A (p.Gly643=) c.1989C>A (p.Gly663=) c.1980C>A (p.Gly660=) c.1899C>A (p.Gly633=) c.1848C>A (p.Gly616=) | |
| 14 | g.33800137C= | CA2128326940 | NPAS3 | c.1830C= (p.Gly610=) c.1839C= (p.Gly613=) c.1730C= c.793+2556C= c.1734C= (p.Gly578=) c.1791C= (p.Gly597=) c.1740C= (p.Gly580=) c.1845C= (p.Gly615=) c.1752C= (p.Gly584=) c.1851C= (p.Gly617=) c.1881C= (p.Gly627=) c.1872C= (p.Gly624=) c.1842C= (p.Gly614=) c.1785C= (p.Gly595=) c.1731C= (p.Gly577=) c.1524C= (p.Gly508=) c.1938C= (p.Gly646=) c.1932C= (p.Gly644=) c.1929C= (p.Gly643=) c.1989C= (p.Gly663=) c.1980C= (p.Gly660=) c.1899C= (p.Gly633=) c.1848C= (p.Gly616=) | |
| 14 | g.33800137C>G | CA486092818 | NPAS3 | c.1830C>G (p.Gly610=) c.1839C>G (p.Gly613=) c.1730C>G c.793+2556C>G c.1734C>G (p.Gly578=) c.1791C>G (p.Gly597=) c.1740C>G (p.Gly580=) c.1845C>G (p.Gly615=) c.1752C>G (p.Gly584=) c.1851C>G (p.Gly617=) c.1881C>G (p.Gly627=) c.1872C>G (p.Gly624=) c.1842C>G (p.Gly614=) c.1785C>G (p.Gly595=) c.1731C>G (p.Gly577=) c.1524C>G (p.Gly508=) c.1938C>G (p.Gly646=) c.1932C>G (p.Gly644=) c.1929C>G (p.Gly643=) c.1989C>G (p.Gly663=) c.1980C>G (p.Gly660=) c.1899C>G (p.Gly633=) c.1848C>G (p.Gly616=) | |
| 14 | g.33800137C>T | CA486092819 | NPAS3 | c.1830C>T (p.Gly610=) c.1839C>T (p.Gly613=) c.1730C>T c.793+2556C>T c.1734C>T (p.Gly578=) c.1791C>T (p.Gly597=) c.1740C>T (p.Gly580=) c.1845C>T (p.Gly615=) c.1752C>T (p.Gly584=) c.1851C>T (p.Gly617=) c.1881C>T (p.Gly627=) c.1872C>T (p.Gly624=) c.1842C>T (p.Gly614=) c.1785C>T (p.Gly595=) c.1731C>T (p.Gly577=) c.1524C>T (p.Gly508=) c.1938C>T (p.Gly646=) c.1932C>T (p.Gly644=) c.1929C>T (p.Gly643=) c.1989C>T (p.Gly663=) c.1980C>T (p.Gly660=) c.1899C>T (p.Gly633=) c.1848C>T (p.Gly616=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800138A>C | CA389412690 | NPAS3 | c.1831A>C (p.Ser611Arg) c.1840A>C (p.Ser614Arg) c.1731A>C c.793+2557A>C c.1735A>C (p.Ser579Arg) c.1792A>C (p.Ser598Arg) c.1741A>C (p.Ser581Arg) c.1846A>C (p.Ser616Arg) c.1753A>C (p.Ser585Arg) c.1852A>C (p.Ser618Arg) c.1882A>C (p.Ser628Arg) c.1873A>C (p.Ser625Arg) c.1843A>C (p.Ser615Arg) c.1786A>C (p.Ser596Arg) c.1732A>C (p.Ser578Arg) c.1525A>C (p.Ser509Arg) c.1939A>C (p.Ser647Arg) c.1933A>C (p.Ser645Arg) c.1930A>C (p.Ser644Arg) c.1990A>C (p.Ser664Arg) c.1981A>C (p.Ser661Arg) c.1900A>C (p.Ser634Arg) c.1849A>C (p.Ser617Arg) | |
| 14 | g.33800138A>G | CA389412695 | NPAS3 | c.1831A>G (p.Ser611Gly) c.1840A>G (p.Ser614Gly) c.1731A>G c.793+2557A>G c.1735A>G (p.Ser579Gly) c.1792A>G (p.Ser598Gly) c.1741A>G (p.Ser581Gly) c.1846A>G (p.Ser616Gly) c.1753A>G (p.Ser585Gly) c.1852A>G (p.Ser618Gly) c.1882A>G (p.Ser628Gly) c.1873A>G (p.Ser625Gly) c.1843A>G (p.Ser615Gly) c.1786A>G (p.Ser596Gly) c.1732A>G (p.Ser578Gly) c.1525A>G (p.Ser509Gly) c.1939A>G (p.Ser647Gly) c.1933A>G (p.Ser645Gly) c.1930A>G (p.Ser644Gly) c.1990A>G (p.Ser664Gly) c.1981A>G (p.Ser661Gly) c.1900A>G (p.Ser634Gly) c.1849A>G (p.Ser617Gly) | |
| 14 | g.33800138A>T | CA389412701 | NPAS3 | c.1831A>T (p.Ser611Cys) c.1840A>T (p.Ser614Cys) c.1731A>T c.793+2557A>T c.1735A>T (p.Ser579Cys) c.1792A>T (p.Ser598Cys) c.1741A>T (p.Ser581Cys) c.1846A>T (p.Ser616Cys) c.1753A>T (p.Ser585Cys) c.1852A>T (p.Ser618Cys) c.1882A>T (p.Ser628Cys) c.1873A>T (p.Ser625Cys) c.1843A>T (p.Ser615Cys) c.1786A>T (p.Ser596Cys) c.1732A>T (p.Ser578Cys) c.1525A>T (p.Ser509Cys) c.1939A>T (p.Ser647Cys) c.1933A>T (p.Ser645Cys) c.1930A>T (p.Ser644Cys) c.1990A>T (p.Ser664Cys) c.1981A>T (p.Ser661Cys) c.1900A>T (p.Ser634Cys) c.1849A>T (p.Ser617Cys) | |
| 14 | g.33800139G>A | CA389412704 | NPAS3 | c.1832G>A (p.Ser611Asn) c.1841G>A (p.Ser614Asn) c.1732G>A c.793+2558G>A c.1736G>A (p.Ser579Asn) c.1793G>A (p.Ser598Asn) c.1742G>A (p.Ser581Asn) c.1847G>A (p.Ser616Asn) c.1754G>A (p.Ser585Asn) c.1853G>A (p.Ser618Asn) c.1883G>A (p.Ser628Asn) c.1874G>A (p.Ser625Asn) c.1844G>A (p.Ser615Asn) c.1787G>A (p.Ser596Asn) c.1733G>A (p.Ser578Asn) c.1526G>A (p.Ser509Asn) c.1940G>A (p.Ser647Asn) c.1934G>A (p.Ser645Asn) c.1931G>A (p.Ser644Asn) c.1991G>A (p.Ser664Asn) c.1982G>A (p.Ser661Asn) c.1901G>A (p.Ser634Asn) c.1850G>A (p.Ser617Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800139G>C | CA389412706 | NPAS3 | c.1832G>C (p.Ser611Thr) c.1841G>C (p.Ser614Thr) c.1732G>C c.793+2558G>C c.1736G>C (p.Ser579Thr) c.1793G>C (p.Ser598Thr) c.1742G>C (p.Ser581Thr) c.1847G>C (p.Ser616Thr) c.1754G>C (p.Ser585Thr) c.1853G>C (p.Ser618Thr) c.1883G>C (p.Ser628Thr) c.1874G>C (p.Ser625Thr) c.1844G>C (p.Ser615Thr) c.1787G>C (p.Ser596Thr) c.1733G>C (p.Ser578Thr) c.1526G>C (p.Ser509Thr) c.1940G>C (p.Ser647Thr) c.1934G>C (p.Ser645Thr) c.1931G>C (p.Ser644Thr) c.1991G>C (p.Ser664Thr) c.1982G>C (p.Ser661Thr) c.1901G>C (p.Ser634Thr) c.1850G>C (p.Ser617Thr) | |
| 14 | g.33800139G= | CA2128326942 | NPAS3 | c.1832G= (p.Ser611=) c.1841G= (p.Ser614=) c.1732G= c.793+2558G= c.1736G= (p.Ser579=) c.1793G= (p.Ser598=) c.1742G= (p.Ser581=) c.1847G= (p.Ser616=) c.1754G= (p.Ser585=) c.1853G= (p.Ser618=) c.1883G= (p.Ser628=) c.1874G= (p.Ser625=) c.1844G= (p.Ser615=) c.1787G= (p.Ser596=) c.1733G= (p.Ser578=) c.1526G= (p.Ser509=) c.1940G= (p.Ser647=) c.1934G= (p.Ser645=) c.1931G= (p.Ser644=) c.1991G= (p.Ser664=) c.1982G= (p.Ser661=) c.1901G= (p.Ser634=) c.1850G= (p.Ser617=) | |
| 14 | g.33800139G>T | CA389412705 | NPAS3 | c.1832G>T (p.Ser611Ile) c.1841G>T (p.Ser614Ile) c.1732G>T c.793+2558G>T c.1736G>T (p.Ser579Ile) c.1793G>T (p.Ser598Ile) c.1742G>T (p.Ser581Ile) c.1847G>T (p.Ser616Ile) c.1754G>T (p.Ser585Ile) c.1853G>T (p.Ser618Ile) c.1883G>T (p.Ser628Ile) c.1874G>T (p.Ser625Ile) c.1844G>T (p.Ser615Ile) c.1787G>T (p.Ser596Ile) c.1733G>T (p.Ser578Ile) c.1526G>T (p.Ser509Ile) c.1940G>T (p.Ser647Ile) c.1934G>T (p.Ser645Ile) c.1931G>T (p.Ser644Ile) c.1991G>T (p.Ser664Ile) c.1982G>T (p.Ser661Ile) c.1901G>T (p.Ser634Ile) c.1850G>T (p.Ser617Ile) | |
| 14 | g.33800140C>A | CA389412708 | NPAS3 | c.1833C>A (p.Ser611Arg) c.1842C>A (p.Ser614Arg) c.1733C>A c.793+2559C>A c.1737C>A (p.Ser579Arg) c.1794C>A (p.Ser598Arg) c.1743C>A (p.Ser581Arg) c.1848C>A (p.Ser616Arg) c.1755C>A (p.Ser585Arg) c.1854C>A (p.Ser618Arg) c.1884C>A (p.Ser628Arg) c.1875C>A (p.Ser625Arg) c.1845C>A (p.Ser615Arg) c.1788C>A (p.Ser596Arg) c.1734C>A (p.Ser578Arg) c.1527C>A (p.Ser509Arg) c.1941C>A (p.Ser647Arg) c.1935C>A (p.Ser645Arg) c.1932C>A (p.Ser644Arg) c.1992C>A (p.Ser664Arg) c.1983C>A (p.Ser661Arg) c.1902C>A (p.Ser634Arg) c.1851C>A (p.Ser617Arg) | gnomAD v4 |
| 14 | g.33800140C= | CA2128326946 | NPAS3 | c.1833C= (p.Ser611=) c.1842C= (p.Ser614=) c.1733C= c.793+2559C= c.1737C= (p.Ser579=) c.1794C= (p.Ser598=) c.1743C= (p.Ser581=) c.1848C= (p.Ser616=) c.1755C= (p.Ser585=) c.1854C= (p.Ser618=) c.1884C= (p.Ser628=) c.1875C= (p.Ser625=) c.1845C= (p.Ser615=) c.1788C= (p.Ser596=) c.1734C= (p.Ser578=) c.1527C= (p.Ser509=) c.1941C= (p.Ser647=) c.1935C= (p.Ser645=) c.1932C= (p.Ser644=) c.1992C= (p.Ser664=) c.1983C= (p.Ser661=) c.1902C= (p.Ser634=) c.1851C= (p.Ser617=) | |
| 14 | g.33800140C>G | CA389412710 | NPAS3 | c.1833C>G (p.Ser611Arg) c.1842C>G (p.Ser614Arg) c.1733C>G c.793+2559C>G c.1737C>G (p.Ser579Arg) c.1794C>G (p.Ser598Arg) c.1743C>G (p.Ser581Arg) c.1848C>G (p.Ser616Arg) c.1755C>G (p.Ser585Arg) c.1854C>G (p.Ser618Arg) c.1884C>G (p.Ser628Arg) c.1875C>G (p.Ser625Arg) c.1845C>G (p.Ser615Arg) c.1788C>G (p.Ser596Arg) c.1734C>G (p.Ser578Arg) c.1527C>G (p.Ser509Arg) c.1941C>G (p.Ser647Arg) c.1935C>G (p.Ser645Arg) c.1932C>G (p.Ser644Arg) c.1992C>G (p.Ser664Arg) c.1983C>G (p.Ser661Arg) c.1902C>G (p.Ser634Arg) c.1851C>G (p.Ser617Arg) | |
| 14 | g.33800140C>T | CA7150889 | NPAS3 | c.1833C>T (p.Ser611=) c.1842C>T (p.Ser614=) c.1733C>T c.793+2559C>T c.1737C>T (p.Ser579=) c.1794C>T (p.Ser598=) c.1743C>T (p.Ser581=) c.1848C>T (p.Ser616=) c.1755C>T (p.Ser585=) c.1854C>T (p.Ser618=) c.1884C>T (p.Ser628=) c.1875C>T (p.Ser625=) c.1845C>T (p.Ser615=) c.1788C>T (p.Ser596=) c.1734C>T (p.Ser578=) c.1527C>T (p.Ser509=) c.1941C>T (p.Ser647=) c.1935C>T (p.Ser645=) c.1932C>T (p.Ser644=) c.1992C>T (p.Ser664=) c.1983C>T (p.Ser661=) c.1902C>T (p.Ser634=) c.1851C>T (p.Ser617=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800141G>A | CA7150890 | NPAS3 | c.1834G>A (p.Ala612Thr) c.1843G>A (p.Ala615Thr) c.1734G>A c.793+2560G>A c.1738G>A (p.Ala580Thr) c.1795G>A (p.Ala599Thr) c.1744G>A (p.Ala582Thr) c.1849G>A (p.Ala617Thr) c.1756G>A (p.Ala586Thr) c.1855G>A (p.Ala619Thr) c.1885G>A (p.Ala629Thr) c.1876G>A (p.Ala626Thr) c.1846G>A (p.Ala616Thr) c.1789G>A (p.Ala597Thr) c.1735G>A (p.Ala579Thr) c.1528G>A (p.Ala510Thr) c.1942G>A (p.Ala648Thr) c.1936G>A (p.Ala646Thr) c.1933G>A (p.Ala645Thr) c.1993G>A (p.Ala665Thr) c.1984G>A (p.Ala662Thr) c.1903G>A (p.Ala635Thr) c.1852G>A (p.Ala618Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.33800141G>C | CA389412716 | NPAS3 | c.1834G>C (p.Ala612Pro) c.1843G>C (p.Ala615Pro) c.1734G>C c.793+2560G>C c.1738G>C (p.Ala580Pro) c.1795G>C (p.Ala599Pro) c.1744G>C (p.Ala582Pro) c.1849G>C (p.Ala617Pro) c.1756G>C (p.Ala586Pro) c.1855G>C (p.Ala619Pro) c.1885G>C (p.Ala629Pro) c.1876G>C (p.Ala626Pro) c.1846G>C (p.Ala616Pro) c.1789G>C (p.Ala597Pro) c.1735G>C (p.Ala579Pro) c.1528G>C (p.Ala510Pro) c.1942G>C (p.Ala648Pro) c.1936G>C (p.Ala646Pro) c.1933G>C (p.Ala645Pro) c.1993G>C (p.Ala665Pro) c.1984G>C (p.Ala662Pro) c.1903G>C (p.Ala635Pro) c.1852G>C (p.Ala618Pro) | |
| 14 | g.33800141G= | CA2128326948 | NPAS3 | c.1834G= (p.Ala612=) c.1843G= (p.Ala615=) c.1734G= c.793+2560G= c.1738G= (p.Ala580=) c.1795G= (p.Ala599=) c.1744G= (p.Ala582=) c.1849G= (p.Ala617=) c.1756G= (p.Ala586=) c.1855G= (p.Ala619=) c.1885G= (p.Ala629=) c.1876G= (p.Ala626=) c.1846G= (p.Ala616=) c.1789G= (p.Ala597=) c.1735G= (p.Ala579=) c.1528G= (p.Ala510=) c.1942G= (p.Ala648=) c.1936G= (p.Ala646=) c.1933G= (p.Ala645=) c.1993G= (p.Ala665=) c.1984G= (p.Ala662=) c.1903G= (p.Ala635=) c.1852G= (p.Ala618=) | |
| 14 | g.33800141G>T | CA389412719 | NPAS3 | c.1834G>T (p.Ala612Ser) c.1843G>T (p.Ala615Ser) c.1734G>T c.793+2560G>T c.1738G>T (p.Ala580Ser) c.1795G>T (p.Ala599Ser) c.1744G>T (p.Ala582Ser) c.1849G>T (p.Ala617Ser) c.1756G>T (p.Ala586Ser) c.1855G>T (p.Ala619Ser) c.1885G>T (p.Ala629Ser) c.1876G>T (p.Ala626Ser) c.1846G>T (p.Ala616Ser) c.1789G>T (p.Ala597Ser) c.1735G>T (p.Ala579Ser) c.1528G>T (p.Ala510Ser) c.1942G>T (p.Ala648Ser) c.1936G>T (p.Ala646Ser) c.1933G>T (p.Ala645Ser) c.1993G>T (p.Ala665Ser) c.1984G>T (p.Ala662Ser) c.1903G>T (p.Ala635Ser) c.1852G>T (p.Ala618Ser) | |
| 14 | g.33800142C>A | CA389412721 | NPAS3 | c.1835C>A (p.Ala612Asp) c.1844C>A (p.Ala615Asp) c.1735C>A c.793+2561C>A c.1739C>A (p.Ala580Asp) c.1796C>A (p.Ala599Asp) c.1745C>A (p.Ala582Asp) c.1850C>A (p.Ala617Asp) c.1757C>A (p.Ala586Asp) c.1856C>A (p.Ala619Asp) c.1886C>A (p.Ala629Asp) c.1877C>A (p.Ala626Asp) c.1847C>A (p.Ala616Asp) c.1790C>A (p.Ala597Asp) c.1736C>A (p.Ala579Asp) c.1529C>A (p.Ala510Asp) c.1943C>A (p.Ala648Asp) c.1937C>A (p.Ala646Asp) c.1934C>A (p.Ala645Asp) c.1994C>A (p.Ala665Asp) c.1985C>A (p.Ala662Asp) c.1904C>A (p.Ala635Asp) c.1853C>A (p.Ala618Asp) | |
| 14 | g.33800142C>G | CA389412724 | NPAS3 | c.1835C>G (p.Ala612Gly) c.1844C>G (p.Ala615Gly) c.1735C>G c.793+2561C>G c.1739C>G (p.Ala580Gly) c.1796C>G (p.Ala599Gly) c.1745C>G (p.Ala582Gly) c.1850C>G (p.Ala617Gly) c.1757C>G (p.Ala586Gly) c.1856C>G (p.Ala619Gly) c.1886C>G (p.Ala629Gly) c.1877C>G (p.Ala626Gly) c.1847C>G (p.Ala616Gly) c.1790C>G (p.Ala597Gly) c.1736C>G (p.Ala579Gly) c.1529C>G (p.Ala510Gly) c.1943C>G (p.Ala648Gly) c.1937C>G (p.Ala646Gly) c.1934C>G (p.Ala645Gly) c.1994C>G (p.Ala665Gly) c.1985C>G (p.Ala662Gly) c.1904C>G (p.Ala635Gly) c.1853C>G (p.Ala618Gly) | |
| 14 | g.33800142C>T | CA389412726 | NPAS3 | c.1835C>T (p.Ala612Val) c.1844C>T (p.Ala615Val) c.1735C>T c.793+2561C>T c.1739C>T (p.Ala580Val) c.1796C>T (p.Ala599Val) c.1745C>T (p.Ala582Val) c.1850C>T (p.Ala617Val) c.1757C>T (p.Ala586Val) c.1856C>T (p.Ala619Val) c.1886C>T (p.Ala629Val) c.1877C>T (p.Ala626Val) c.1847C>T (p.Ala616Val) c.1790C>T (p.Ala597Val) c.1736C>T (p.Ala579Val) c.1529C>T (p.Ala510Val) c.1943C>T (p.Ala648Val) c.1937C>T (p.Ala646Val) c.1934C>T (p.Ala645Val) c.1994C>T (p.Ala665Val) c.1985C>T (p.Ala662Val) c.1904C>T (p.Ala635Val) c.1853C>T (p.Ala618Val) | |
| 14 | g.33800143C>A | CA486092825 | NPAS3 | c.1836C>A (p.Ala612=) c.1845C>A (p.Ala615=) c.1736C>A c.793+2562C>A c.1740C>A (p.Ala580=) c.1797C>A (p.Ala599=) c.1746C>A (p.Ala582=) c.1851C>A (p.Ala617=) c.1758C>A (p.Ala586=) c.1857C>A (p.Ala619=) c.1887C>A (p.Ala629=) c.1878C>A (p.Ala626=) c.1848C>A (p.Ala616=) c.1791C>A (p.Ala597=) c.1737C>A (p.Ala579=) c.1530C>A (p.Ala510=) c.1944C>A (p.Ala648=) c.1938C>A (p.Ala646=) c.1935C>A (p.Ala645=) c.1995C>A (p.Ala665=) c.1986C>A (p.Ala662=) c.1905C>A (p.Ala635=) c.1854C>A (p.Ala618=) | |
| 14 | g.33800143C= | CA2128326950 | NPAS3 | c.1836C= (p.Ala612=) c.1845C= (p.Ala615=) c.1736C= c.793+2562C= c.1740C= (p.Ala580=) c.1797C= (p.Ala599=) c.1746C= (p.Ala582=) c.1851C= (p.Ala617=) c.1758C= (p.Ala586=) c.1857C= (p.Ala619=) c.1887C= (p.Ala629=) c.1878C= (p.Ala626=) c.1848C= (p.Ala616=) c.1791C= (p.Ala597=) c.1737C= (p.Ala579=) c.1530C= (p.Ala510=) c.1944C= (p.Ala648=) c.1938C= (p.Ala646=) c.1935C= (p.Ala645=) c.1995C= (p.Ala665=) c.1986C= (p.Ala662=) c.1905C= (p.Ala635=) c.1854C= (p.Ala618=) | |
| 14 | g.33800143C>G | CA486092826 | NPAS3 | c.1836C>G (p.Ala612=) c.1845C>G (p.Ala615=) c.1736C>G c.793+2562C>G c.1740C>G (p.Ala580=) c.1797C>G (p.Ala599=) c.1746C>G (p.Ala582=) c.1851C>G (p.Ala617=) c.1758C>G (p.Ala586=) c.1857C>G (p.Ala619=) c.1887C>G (p.Ala629=) c.1878C>G (p.Ala626=) c.1848C>G (p.Ala616=) c.1791C>G (p.Ala597=) c.1737C>G (p.Ala579=) c.1530C>G (p.Ala510=) c.1944C>G (p.Ala648=) c.1938C>G (p.Ala646=) c.1935C>G (p.Ala645=) c.1995C>G (p.Ala665=) c.1986C>G (p.Ala662=) c.1905C>G (p.Ala635=) c.1854C>G (p.Ala618=) | |
| 14 | g.33800143C>T | CA7150891 | NPAS3 | c.1836C>T (p.Ala612=) c.1845C>T (p.Ala615=) c.1736C>T c.793+2562C>T c.1740C>T (p.Ala580=) c.1797C>T (p.Ala599=) c.1746C>T (p.Ala582=) c.1851C>T (p.Ala617=) c.1758C>T (p.Ala586=) c.1857C>T (p.Ala619=) c.1887C>T (p.Ala629=) c.1878C>T (p.Ala626=) c.1848C>T (p.Ala616=) c.1791C>T (p.Ala597=) c.1737C>T (p.Ala579=) c.1530C>T (p.Ala510=) c.1944C>T (p.Ala648=) c.1938C>T (p.Ala646=) c.1935C>T (p.Ala645=) c.1995C>T (p.Ala665=) c.1986C>T (p.Ala662=) c.1905C>T (p.Ala635=) c.1854C>T (p.Ala618=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800144A= | CA2128326953 | NPAS3 | c.1837A= (p.Ser613=) c.1846A= (p.Ser616=) c.1737A= c.793+2563A= c.1741A= (p.Ser581=) c.1798A= (p.Ser600=) c.1747A= (p.Ser583=) c.1852A= (p.Ser618=) c.1759A= (p.Ser587=) c.1858A= (p.Ser620=) c.1888A= (p.Ser630=) c.1879A= (p.Ser627=) c.1849A= (p.Ser617=) c.1792A= (p.Ser598=) c.1738A= (p.Ser580=) c.1531A= (p.Ser511=) c.1945A= (p.Ser649=) c.1939A= (p.Ser647=) c.1936A= (p.Ser646=) c.1996A= (p.Ser666=) c.1987A= (p.Ser663=) c.1906A= (p.Ser636=) c.1855A= (p.Ser619=) | |
| 14 | g.33800144A>C | CA389412734 | NPAS3 | c.1837A>C (p.Ser613Arg) c.1846A>C (p.Ser616Arg) c.1737A>C c.793+2563A>C c.1741A>C (p.Ser581Arg) c.1798A>C (p.Ser600Arg) c.1747A>C (p.Ser583Arg) c.1852A>C (p.Ser618Arg) c.1759A>C (p.Ser587Arg) c.1858A>C (p.Ser620Arg) c.1888A>C (p.Ser630Arg) c.1879A>C (p.Ser627Arg) c.1849A>C (p.Ser617Arg) c.1792A>C (p.Ser598Arg) c.1738A>C (p.Ser580Arg) c.1531A>C (p.Ser511Arg) c.1945A>C (p.Ser649Arg) c.1939A>C (p.Ser647Arg) c.1936A>C (p.Ser646Arg) c.1996A>C (p.Ser666Arg) c.1987A>C (p.Ser663Arg) c.1906A>C (p.Ser636Arg) c.1855A>C (p.Ser619Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800144A>G | CA389412737 | NPAS3 | c.1837A>G (p.Ser613Gly) c.1846A>G (p.Ser616Gly) c.1737A>G c.793+2563A>G c.1741A>G (p.Ser581Gly) c.1798A>G (p.Ser600Gly) c.1747A>G (p.Ser583Gly) c.1852A>G (p.Ser618Gly) c.1759A>G (p.Ser587Gly) c.1858A>G (p.Ser620Gly) c.1888A>G (p.Ser630Gly) c.1879A>G (p.Ser627Gly) c.1849A>G (p.Ser617Gly) c.1792A>G (p.Ser598Gly) c.1738A>G (p.Ser580Gly) c.1531A>G (p.Ser511Gly) c.1945A>G (p.Ser649Gly) c.1939A>G (p.Ser647Gly) c.1936A>G (p.Ser646Gly) c.1996A>G (p.Ser666Gly) c.1987A>G (p.Ser663Gly) c.1906A>G (p.Ser636Gly) c.1855A>G (p.Ser619Gly) | |
| 14 | g.33800144A>T | CA7150892 | NPAS3 | c.1837A>T (p.Ser613Cys) c.1846A>T (p.Ser616Cys) c.1737A>T c.793+2563A>T c.1741A>T (p.Ser581Cys) c.1798A>T (p.Ser600Cys) c.1747A>T (p.Ser583Cys) c.1852A>T (p.Ser618Cys) c.1759A>T (p.Ser587Cys) c.1858A>T (p.Ser620Cys) c.1888A>T (p.Ser630Cys) c.1879A>T (p.Ser627Cys) c.1849A>T (p.Ser617Cys) c.1792A>T (p.Ser598Cys) c.1738A>T (p.Ser580Cys) c.1531A>T (p.Ser511Cys) c.1945A>T (p.Ser649Cys) c.1939A>T (p.Ser647Cys) c.1936A>T (p.Ser646Cys) c.1996A>T (p.Ser666Cys) c.1987A>T (p.Ser663Cys) c.1906A>T (p.Ser636Cys) c.1855A>T (p.Ser619Cys) | dbSNP ExAC gnomAD v2 |
| 14 | g.33800145G>A | CA389412741 | NPAS3 | c.1838G>A (p.Ser613Asn) c.1847G>A (p.Ser616Asn) c.1738G>A c.793+2564G>A c.1742G>A (p.Ser581Asn) c.1799G>A (p.Ser600Asn) c.1748G>A (p.Ser583Asn) c.1853G>A (p.Ser618Asn) c.1760G>A (p.Ser587Asn) c.1859G>A (p.Ser620Asn) c.1889G>A (p.Ser630Asn) c.1880G>A (p.Ser627Asn) c.1850G>A (p.Ser617Asn) c.1793G>A (p.Ser598Asn) c.1739G>A (p.Ser580Asn) c.1532G>A (p.Ser511Asn) c.1946G>A (p.Ser649Asn) c.1940G>A (p.Ser647Asn) c.1937G>A (p.Ser646Asn) c.1997G>A (p.Ser666Asn) c.1988G>A (p.Ser663Asn) c.1907G>A (p.Ser636Asn) c.1856G>A (p.Ser619Asn) | dbSNP |
| 14 | g.33800145G>C | CA389412743 | NPAS3 | c.1838G>C (p.Ser613Thr) c.1847G>C (p.Ser616Thr) c.1738G>C c.793+2564G>C c.1742G>C (p.Ser581Thr) c.1799G>C (p.Ser600Thr) c.1748G>C (p.Ser583Thr) c.1853G>C (p.Ser618Thr) c.1760G>C (p.Ser587Thr) c.1859G>C (p.Ser620Thr) c.1889G>C (p.Ser630Thr) c.1880G>C (p.Ser627Thr) c.1850G>C (p.Ser617Thr) c.1793G>C (p.Ser598Thr) c.1739G>C (p.Ser580Thr) c.1532G>C (p.Ser511Thr) c.1946G>C (p.Ser649Thr) c.1940G>C (p.Ser647Thr) c.1937G>C (p.Ser646Thr) c.1997G>C (p.Ser666Thr) c.1988G>C (p.Ser663Thr) c.1907G>C (p.Ser636Thr) c.1856G>C (p.Ser619Thr) | dbSNP COSMIC COSMIC COSMIC |
| 14 | g.33800145G= | CA2128326957 | NPAS3 | c.1838G= (p.Ser613=) c.1847G= (p.Ser616=) c.1738G= c.793+2564G= c.1742G= (p.Ser581=) c.1799G= (p.Ser600=) c.1748G= (p.Ser583=) c.1853G= (p.Ser618=) c.1760G= (p.Ser587=) c.1859G= (p.Ser620=) c.1889G= (p.Ser630=) c.1880G= (p.Ser627=) c.1850G= (p.Ser617=) c.1793G= (p.Ser598=) c.1739G= (p.Ser580=) c.1532G= (p.Ser511=) c.1946G= (p.Ser649=) c.1940G= (p.Ser647=) c.1937G= (p.Ser646=) c.1997G= (p.Ser666=) c.1988G= (p.Ser663=) c.1907G= (p.Ser636=) c.1856G= (p.Ser619=) | |
| 14 | g.33800145G>T | CA389412746 | NPAS3 | c.1838G>T (p.Ser613Ile) c.1847G>T (p.Ser616Ile) c.1738G>T c.793+2564G>T c.1742G>T (p.Ser581Ile) c.1799G>T (p.Ser600Ile) c.1748G>T (p.Ser583Ile) c.1853G>T (p.Ser618Ile) c.1760G>T (p.Ser587Ile) c.1859G>T (p.Ser620Ile) c.1889G>T (p.Ser630Ile) c.1880G>T (p.Ser627Ile) c.1850G>T (p.Ser617Ile) c.1793G>T (p.Ser598Ile) c.1739G>T (p.Ser580Ile) c.1532G>T (p.Ser511Ile) c.1946G>T (p.Ser649Ile) c.1940G>T (p.Ser647Ile) c.1937G>T (p.Ser646Ile) c.1997G>T (p.Ser666Ile) c.1988G>T (p.Ser663Ile) c.1907G>T (p.Ser636Ile) c.1856G>T (p.Ser619Ile) | |
| 14 | g.33800146C>A | CA389412749 | NPAS3 | c.1839C>A (p.Ser613Arg) c.1848C>A (p.Ser616Arg) c.1739C>A c.793+2565C>A c.1743C>A (p.Ser581Arg) c.1800C>A (p.Ser600Arg) c.1749C>A (p.Ser583Arg) c.1854C>A (p.Ser618Arg) c.1761C>A (p.Ser587Arg) c.1860C>A (p.Ser620Arg) c.1890C>A (p.Ser630Arg) c.1881C>A (p.Ser627Arg) c.1851C>A (p.Ser617Arg) c.1794C>A (p.Ser598Arg) c.1740C>A (p.Ser580Arg) c.1533C>A (p.Ser511Arg) c.1947C>A (p.Ser649Arg) c.1941C>A (p.Ser647Arg) c.1938C>A (p.Ser646Arg) c.1998C>A (p.Ser666Arg) c.1989C>A (p.Ser663Arg) c.1908C>A (p.Ser636Arg) c.1857C>A (p.Ser619Arg) | |
| 14 | g.33800146C>G | CA389412752 | NPAS3 | c.1839C>G (p.Ser613Arg) c.1848C>G (p.Ser616Arg) c.1739C>G c.793+2565C>G c.1743C>G (p.Ser581Arg) c.1800C>G (p.Ser600Arg) c.1749C>G (p.Ser583Arg) c.1854C>G (p.Ser618Arg) c.1761C>G (p.Ser587Arg) c.1860C>G (p.Ser620Arg) c.1890C>G (p.Ser630Arg) c.1881C>G (p.Ser627Arg) c.1851C>G (p.Ser617Arg) c.1794C>G (p.Ser598Arg) c.1740C>G (p.Ser580Arg) c.1533C>G (p.Ser511Arg) c.1947C>G (p.Ser649Arg) c.1941C>G (p.Ser647Arg) c.1938C>G (p.Ser646Arg) c.1998C>G (p.Ser666Arg) c.1989C>G (p.Ser663Arg) c.1908C>G (p.Ser636Arg) c.1857C>G (p.Ser619Arg) | |
| 14 | g.33800146C>T | CA486092827 | NPAS3 | c.1839C>T (p.Ser613=) c.1848C>T (p.Ser616=) c.1739C>T c.793+2565C>T c.1743C>T (p.Ser581=) c.1800C>T (p.Ser600=) c.1749C>T (p.Ser583=) c.1854C>T (p.Ser618=) c.1761C>T (p.Ser587=) c.1860C>T (p.Ser620=) c.1890C>T (p.Ser630=) c.1881C>T (p.Ser627=) c.1851C>T (p.Ser617=) c.1794C>T (p.Ser598=) c.1740C>T (p.Ser580=) c.1533C>T (p.Ser511=) c.1947C>T (p.Ser649=) c.1941C>T (p.Ser647=) c.1938C>T (p.Ser646=) c.1998C>T (p.Ser666=) c.1989C>T (p.Ser663=) c.1908C>T (p.Ser636=) c.1857C>T (p.Ser619=) | |
| 14 | g.33800147C>A | CA7150893 | NPAS3 | c.1840C>A (p.Arg614Ser) c.1849C>A (p.Arg617Ser) c.1740C>A c.793+2566C>A c.1744C>A (p.Arg582Ser) c.1801C>A (p.Arg601Ser) c.1750C>A (p.Arg584Ser) c.1855C>A (p.Arg619Ser) c.1762C>A (p.Arg588Ser) c.1861C>A (p.Arg621Ser) c.1891C>A (p.Arg631Ser) c.1882C>A (p.Arg628Ser) c.1852C>A (p.Arg618Ser) c.1795C>A (p.Arg599Ser) c.1741C>A (p.Arg581Ser) c.1534C>A (p.Arg512Ser) c.1948C>A (p.Arg650Ser) c.1942C>A (p.Arg648Ser) c.1939C>A (p.Arg647Ser) c.1999C>A (p.Arg667Ser) c.1990C>A (p.Arg664Ser) c.1909C>A (p.Arg637Ser) c.1858C>A (p.Arg620Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800147C= | CA2128326960 | NPAS3 | c.1840C= (p.Arg614=) c.1849C= (p.Arg617=) c.1740C= c.793+2566C= c.1744C= (p.Arg582=) c.1801C= (p.Arg601=) c.1750C= (p.Arg584=) c.1855C= (p.Arg619=) c.1762C= (p.Arg588=) c.1861C= (p.Arg621=) c.1891C= (p.Arg631=) c.1882C= (p.Arg628=) c.1852C= (p.Arg618=) c.1795C= (p.Arg599=) c.1741C= (p.Arg581=) c.1534C= (p.Arg512=) c.1948C= (p.Arg650=) c.1942C= (p.Arg648=) c.1939C= (p.Arg647=) c.1999C= (p.Arg667=) c.1990C= (p.Arg664=) c.1909C= (p.Arg637=) c.1858C= (p.Arg620=) | |
| 14 | g.33800147C>G | CA389412757 | NPAS3 | c.1840C>G (p.Arg614Gly) c.1849C>G (p.Arg617Gly) c.1740C>G c.793+2566C>G c.1744C>G (p.Arg582Gly) c.1801C>G (p.Arg601Gly) c.1750C>G (p.Arg584Gly) c.1855C>G (p.Arg619Gly) c.1762C>G (p.Arg588Gly) c.1861C>G (p.Arg621Gly) c.1891C>G (p.Arg631Gly) c.1882C>G (p.Arg628Gly) c.1852C>G (p.Arg618Gly) c.1795C>G (p.Arg599Gly) c.1741C>G (p.Arg581Gly) c.1534C>G (p.Arg512Gly) c.1948C>G (p.Arg650Gly) c.1942C>G (p.Arg648Gly) c.1939C>G (p.Arg647Gly) c.1999C>G (p.Arg667Gly) c.1990C>G (p.Arg664Gly) c.1909C>G (p.Arg637Gly) c.1858C>G (p.Arg620Gly) | |
| 14 | g.33800147C>T | CA389412755 | NPAS3 | c.1840C>T (p.Arg614Cys) c.1849C>T (p.Arg617Cys) c.1740C>T c.793+2566C>T c.1744C>T (p.Arg582Cys) c.1801C>T (p.Arg601Cys) c.1750C>T (p.Arg584Cys) c.1855C>T (p.Arg619Cys) c.1762C>T (p.Arg588Cys) c.1861C>T (p.Arg621Cys) c.1891C>T (p.Arg631Cys) c.1882C>T (p.Arg628Cys) c.1852C>T (p.Arg618Cys) c.1795C>T (p.Arg599Cys) c.1741C>T (p.Arg581Cys) c.1534C>T (p.Arg512Cys) c.1948C>T (p.Arg650Cys) c.1942C>T (p.Arg648Cys) c.1939C>T (p.Arg647Cys) c.1999C>T (p.Arg667Cys) c.1990C>T (p.Arg664Cys) c.1909C>T (p.Arg637Cys) c.1858C>T (p.Arg620Cys) | gnomAD v4 |
| 14 | g.33800148G>A | CA7150894 | NPAS3 | c.1841G>A (p.Arg614His) c.1850G>A (p.Arg617His) c.1741G>A c.793+2567G>A c.1745G>A (p.Arg582His) c.1802G>A (p.Arg601His) c.1751G>A (p.Arg584His) c.1856G>A (p.Arg619His) c.1763G>A (p.Arg588His) c.1862G>A (p.Arg621His) c.1892G>A (p.Arg631His) c.1883G>A (p.Arg628His) c.1853G>A (p.Arg618His) c.1796G>A (p.Arg599His) c.1742G>A (p.Arg581His) c.1535G>A (p.Arg512His) c.1949G>A (p.Arg650His) c.1943G>A (p.Arg648His) c.1940G>A (p.Arg647His) c.2000G>A (p.Arg667His) c.1991G>A (p.Arg664His) c.1910G>A (p.Arg637His) c.1859G>A (p.Arg620His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800148G>C | CA389412766 | NPAS3 | c.1841G>C (p.Arg614Pro) c.1850G>C (p.Arg617Pro) c.1741G>C c.793+2567G>C c.1745G>C (p.Arg582Pro) c.1802G>C (p.Arg601Pro) c.1751G>C (p.Arg584Pro) c.1856G>C (p.Arg619Pro) c.1763G>C (p.Arg588Pro) c.1862G>C (p.Arg621Pro) c.1892G>C (p.Arg631Pro) c.1883G>C (p.Arg628Pro) c.1853G>C (p.Arg618Pro) c.1796G>C (p.Arg599Pro) c.1742G>C (p.Arg581Pro) c.1535G>C (p.Arg512Pro) c.1949G>C (p.Arg650Pro) c.1943G>C (p.Arg648Pro) c.1940G>C (p.Arg647Pro) c.2000G>C (p.Arg667Pro) c.1991G>C (p.Arg664Pro) c.1910G>C (p.Arg637Pro) c.1859G>C (p.Arg620Pro) | |
| 14 | g.33800148G= | CA2128326963 | NPAS3 | c.1841G= (p.Arg614=) c.1850G= (p.Arg617=) c.1741G= c.793+2567G= c.1745G= (p.Arg582=) c.1802G= (p.Arg601=) c.1751G= (p.Arg584=) c.1856G= (p.Arg619=) c.1763G= (p.Arg588=) c.1862G= (p.Arg621=) c.1892G= (p.Arg631=) c.1883G= (p.Arg628=) c.1853G= (p.Arg618=) c.1796G= (p.Arg599=) c.1742G= (p.Arg581=) c.1535G= (p.Arg512=) c.1949G= (p.Arg650=) c.1943G= (p.Arg648=) c.1940G= (p.Arg647=) c.2000G= (p.Arg667=) c.1991G= (p.Arg664=) c.1910G= (p.Arg637=) c.1859G= (p.Arg620=) | |
| 14 | g.33800148G>T | CA389412769 | NPAS3 | c.1841G>T (p.Arg614Leu) c.1850G>T (p.Arg617Leu) c.1741G>T c.793+2567G>T c.1745G>T (p.Arg582Leu) c.1802G>T (p.Arg601Leu) c.1751G>T (p.Arg584Leu) c.1856G>T (p.Arg619Leu) c.1763G>T (p.Arg588Leu) c.1862G>T (p.Arg621Leu) c.1892G>T (p.Arg631Leu) c.1883G>T (p.Arg628Leu) c.1853G>T (p.Arg618Leu) c.1796G>T (p.Arg599Leu) c.1742G>T (p.Arg581Leu) c.1535G>T (p.Arg512Leu) c.1949G>T (p.Arg650Leu) c.1943G>T (p.Arg648Leu) c.1940G>T (p.Arg647Leu) c.2000G>T (p.Arg667Leu) c.1991G>T (p.Arg664Leu) c.1910G>T (p.Arg637Leu) c.1859G>T (p.Arg620Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800149C>A | CA486092829 | NPAS3 | c.1842C>A (p.Arg614=) c.1851C>A (p.Arg617=) c.1742C>A c.793+2568C>A c.1746C>A (p.Arg582=) c.1803C>A (p.Arg601=) c.1752C>A (p.Arg584=) c.1857C>A (p.Arg619=) c.1764C>A (p.Arg588=) c.1863C>A (p.Arg621=) c.1893C>A (p.Arg631=) c.1884C>A (p.Arg628=) c.1854C>A (p.Arg618=) c.1797C>A (p.Arg599=) c.1743C>A (p.Arg581=) c.1536C>A (p.Arg512=) c.1950C>A (p.Arg650=) c.1944C>A (p.Arg648=) c.1941C>A (p.Arg647=) c.2001C>A (p.Arg667=) c.1992C>A (p.Arg664=) c.1911C>A (p.Arg637=) c.1860C>A (p.Arg620=) | |
| 14 | g.33800149C= | CA2128326966 | NPAS3 | c.1842C= (p.Arg614=) c.1851C= (p.Arg617=) c.1742C= c.793+2568C= c.1746C= (p.Arg582=) c.1803C= (p.Arg601=) c.1752C= (p.Arg584=) c.1857C= (p.Arg619=) c.1764C= (p.Arg588=) c.1863C= (p.Arg621=) c.1893C= (p.Arg631=) c.1884C= (p.Arg628=) c.1854C= (p.Arg618=) c.1797C= (p.Arg599=) c.1743C= (p.Arg581=) c.1536C= (p.Arg512=) c.1950C= (p.Arg650=) c.1944C= (p.Arg648=) c.1941C= (p.Arg647=) c.2001C= (p.Arg667=) c.1992C= (p.Arg664=) c.1911C= (p.Arg637=) c.1860C= (p.Arg620=) | |
| 14 | g.33800149C>G | CA7150896 | NPAS3 | c.1842C>G (p.Arg614=) c.1851C>G (p.Arg617=) c.1742C>G c.793+2568C>G c.1746C>G (p.Arg582=) c.1803C>G (p.Arg601=) c.1752C>G (p.Arg584=) c.1857C>G (p.Arg619=) c.1764C>G (p.Arg588=) c.1863C>G (p.Arg621=) c.1893C>G (p.Arg631=) c.1884C>G (p.Arg628=) c.1854C>G (p.Arg618=) c.1797C>G (p.Arg599=) c.1743C>G (p.Arg581=) c.1536C>G (p.Arg512=) c.1950C>G (p.Arg650=) c.1944C>G (p.Arg648=) c.1941C>G (p.Arg647=) c.2001C>G (p.Arg667=) c.1992C>G (p.Arg664=) c.1911C>G (p.Arg637=) c.1860C>G (p.Arg620=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800149C>T | CA7150895 | NPAS3 | c.1842C>T (p.Arg614=) c.1851C>T (p.Arg617=) c.1742C>T c.793+2568C>T c.1746C>T (p.Arg582=) c.1803C>T (p.Arg601=) c.1752C>T (p.Arg584=) c.1857C>T (p.Arg619=) c.1764C>T (p.Arg588=) c.1863C>T (p.Arg621=) c.1893C>T (p.Arg631=) c.1884C>T (p.Arg628=) c.1854C>T (p.Arg618=) c.1797C>T (p.Arg599=) c.1743C>T (p.Arg581=) c.1536C>T (p.Arg512=) c.1950C>T (p.Arg650=) c.1944C>T (p.Arg648=) c.1941C>T (p.Arg647=) c.2001C>T (p.Arg667=) c.1992C>T (p.Arg664=) c.1911C>T (p.Arg637=) c.1860C>T (p.Arg620=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800150C>A | CA486092830 | NPAS3 | c.1843C>A (p.Arg615=) c.1852C>A (p.Arg618=) c.1743C>A c.793+2569C>A c.1747C>A (p.Arg583=) c.1804C>A (p.Arg602=) c.1753C>A (p.Arg585=) c.1858C>A (p.Arg620=) c.1765C>A (p.Arg589=) c.1864C>A (p.Arg622=) c.1894C>A (p.Arg632=) c.1885C>A (p.Arg629=) c.1855C>A (p.Arg619=) c.1798C>A (p.Arg600=) c.1744C>A (p.Arg582=) c.1537C>A (p.Arg513=) c.1951C>A (p.Arg651=) c.1945C>A (p.Arg649=) c.1942C>A (p.Arg648=) c.2002C>A (p.Arg668=) c.1993C>A (p.Arg665=) c.1912C>A (p.Arg638=) c.1861C>A (p.Arg621=) | |
| 14 | g.33800150C>G | CA389412776 | NPAS3 | c.1843C>G (p.Arg615Gly) c.1852C>G (p.Arg618Gly) c.1743C>G c.793+2569C>G c.1747C>G (p.Arg583Gly) c.1804C>G (p.Arg602Gly) c.1753C>G (p.Arg585Gly) c.1858C>G (p.Arg620Gly) c.1765C>G (p.Arg589Gly) c.1864C>G (p.Arg622Gly) c.1894C>G (p.Arg632Gly) c.1885C>G (p.Arg629Gly) c.1855C>G (p.Arg619Gly) c.1798C>G (p.Arg600Gly) c.1744C>G (p.Arg582Gly) c.1537C>G (p.Arg513Gly) c.1951C>G (p.Arg651Gly) c.1945C>G (p.Arg649Gly) c.1942C>G (p.Arg648Gly) c.2002C>G (p.Arg668Gly) c.1993C>G (p.Arg665Gly) c.1912C>G (p.Arg638Gly) c.1861C>G (p.Arg621Gly) | COSMIC COSMIC COSMIC |
| 14 | g.33800150C>T | CA389412780 | NPAS3 | c.1843C>T (p.Arg615Trp) c.1852C>T (p.Arg618Trp) c.1743C>T c.793+2569C>T c.1747C>T (p.Arg583Trp) c.1804C>T (p.Arg602Trp) c.1753C>T (p.Arg585Trp) c.1858C>T (p.Arg620Trp) c.1765C>T (p.Arg589Trp) c.1864C>T (p.Arg622Trp) c.1894C>T (p.Arg632Trp) c.1885C>T (p.Arg629Trp) c.1855C>T (p.Arg619Trp) c.1798C>T (p.Arg600Trp) c.1744C>T (p.Arg582Trp) c.1537C>T (p.Arg513Trp) c.1951C>T (p.Arg651Trp) c.1945C>T (p.Arg649Trp) c.1942C>T (p.Arg648Trp) c.2002C>T (p.Arg668Trp) c.1993C>T (p.Arg665Trp) c.1912C>T (p.Arg638Trp) c.1861C>T (p.Arg621Trp) | gnomAD v4 |
| 14 | g.33800151G>A | CA7150897 | NPAS3 | c.1844G>A (p.Arg615Gln) c.1853G>A (p.Arg618Gln) c.1744G>A c.793+2570G>A c.1748G>A (p.Arg583Gln) c.1805G>A (p.Arg602Gln) c.1754G>A (p.Arg585Gln) c.1859G>A (p.Arg620Gln) c.1766G>A (p.Arg589Gln) c.1865G>A (p.Arg622Gln) c.1895G>A (p.Arg632Gln) c.1886G>A (p.Arg629Gln) c.1856G>A (p.Arg619Gln) c.1799G>A (p.Arg600Gln) c.1745G>A (p.Arg582Gln) c.1538G>A (p.Arg513Gln) c.1952G>A (p.Arg651Gln) c.1946G>A (p.Arg649Gln) c.1943G>A (p.Arg648Gln) c.2003G>A (p.Arg668Gln) c.1994G>A (p.Arg665Gln) c.1913G>A (p.Arg638Gln) c.1862G>A (p.Arg621Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800151G>C | CA389412786 | NPAS3 | c.1844G>C (p.Arg615Pro) c.1853G>C (p.Arg618Pro) c.1744G>C c.793+2570G>C c.1748G>C (p.Arg583Pro) c.1805G>C (p.Arg602Pro) c.1754G>C (p.Arg585Pro) c.1859G>C (p.Arg620Pro) c.1766G>C (p.Arg589Pro) c.1865G>C (p.Arg622Pro) c.1895G>C (p.Arg632Pro) c.1886G>C (p.Arg629Pro) c.1856G>C (p.Arg619Pro) c.1799G>C (p.Arg600Pro) c.1745G>C (p.Arg582Pro) c.1538G>C (p.Arg513Pro) c.1952G>C (p.Arg651Pro) c.1946G>C (p.Arg649Pro) c.1943G>C (p.Arg648Pro) c.2003G>C (p.Arg668Pro) c.1994G>C (p.Arg665Pro) c.1913G>C (p.Arg638Pro) c.1862G>C (p.Arg621Pro) | |
| 14 | g.33800151G= | CA2128326970 | NPAS3 | c.1844G= (p.Arg615=) c.1853G= (p.Arg618=) c.1744G= c.793+2570G= c.1748G= (p.Arg583=) c.1805G= (p.Arg602=) c.1754G= (p.Arg585=) c.1859G= (p.Arg620=) c.1766G= (p.Arg589=) c.1865G= (p.Arg622=) c.1895G= (p.Arg632=) c.1886G= (p.Arg629=) c.1856G= (p.Arg619=) c.1799G= (p.Arg600=) c.1745G= (p.Arg582=) c.1538G= (p.Arg513=) c.1952G= (p.Arg651=) c.1946G= (p.Arg649=) c.1943G= (p.Arg648=) c.2003G= (p.Arg668=) c.1994G= (p.Arg665=) c.1913G= (p.Arg638=) c.1862G= (p.Arg621=) | |
| 14 | g.33800151G>T | CA389412785 | NPAS3 | c.1844G>T (p.Arg615Leu) c.1853G>T (p.Arg618Leu) c.1744G>T c.793+2570G>T c.1748G>T (p.Arg583Leu) c.1805G>T (p.Arg602Leu) c.1754G>T (p.Arg585Leu) c.1859G>T (p.Arg620Leu) c.1766G>T (p.Arg589Leu) c.1865G>T (p.Arg622Leu) c.1895G>T (p.Arg632Leu) c.1886G>T (p.Arg629Leu) c.1856G>T (p.Arg619Leu) c.1799G>T (p.Arg600Leu) c.1745G>T (p.Arg582Leu) c.1538G>T (p.Arg513Leu) c.1952G>T (p.Arg651Leu) c.1946G>T (p.Arg649Leu) c.1943G>T (p.Arg648Leu) c.2003G>T (p.Arg668Leu) c.1994G>T (p.Arg665Leu) c.1913G>T (p.Arg638Leu) c.1862G>T (p.Arg621Leu) | |
| 14 | g.33800152G>A | CA486092833 | NPAS3 | c.1845G>A (p.Arg615=) c.1854G>A (p.Arg618=) c.1745G>A c.793+2571G>A c.1749G>A (p.Arg583=) c.1806G>A (p.Arg602=) c.1755G>A (p.Arg585=) c.1860G>A (p.Arg620=) c.1767G>A (p.Arg589=) c.1866G>A (p.Arg622=) c.1896G>A (p.Arg632=) c.1887G>A (p.Arg629=) c.1857G>A (p.Arg619=) c.1800G>A (p.Arg600=) c.1746G>A (p.Arg582=) c.1539G>A (p.Arg513=) c.1953G>A (p.Arg651=) c.1947G>A (p.Arg649=) c.1944G>A (p.Arg648=) c.2004G>A (p.Arg668=) c.1995G>A (p.Arg665=) c.1914G>A (p.Arg638=) c.1863G>A (p.Arg621=) | |
| 14 | g.33800152G>C | CA486092834 | NPAS3 | c.1845G>C (p.Arg615=) c.1854G>C (p.Arg618=) c.1745G>C c.793+2571G>C c.1749G>C (p.Arg583=) c.1806G>C (p.Arg602=) c.1755G>C (p.Arg585=) c.1860G>C (p.Arg620=) c.1767G>C (p.Arg589=) c.1866G>C (p.Arg622=) c.1896G>C (p.Arg632=) c.1887G>C (p.Arg629=) c.1857G>C (p.Arg619=) c.1800G>C (p.Arg600=) c.1746G>C (p.Arg582=) c.1539G>C (p.Arg513=) c.1953G>C (p.Arg651=) c.1947G>C (p.Arg649=) c.1944G>C (p.Arg648=) c.2004G>C (p.Arg668=) c.1995G>C (p.Arg665=) c.1914G>C (p.Arg638=) c.1863G>C (p.Arg621=) | |
| 14 | g.33800152G>T | CA486092835 | NPAS3 | c.1845G>T (p.Arg615=) c.1854G>T (p.Arg618=) c.1745G>T c.793+2571G>T c.1749G>T (p.Arg583=) c.1806G>T (p.Arg602=) c.1755G>T (p.Arg585=) c.1860G>T (p.Arg620=) c.1767G>T (p.Arg589=) c.1866G>T (p.Arg622=) c.1896G>T (p.Arg632=) c.1887G>T (p.Arg629=) c.1857G>T (p.Arg619=) c.1800G>T (p.Arg600=) c.1746G>T (p.Arg582=) c.1539G>T (p.Arg513=) c.1953G>T (p.Arg651=) c.1947G>T (p.Arg649=) c.1944G>T (p.Arg648=) c.2004G>T (p.Arg668=) c.1995G>T (p.Arg665=) c.1914G>T (p.Arg638=) c.1863G>T (p.Arg621=) | gnomAD v4 |
| 14 | g.33800153C>A | CA389412787 | NPAS3 | c.1846C>A (p.Arg616Ser) c.1855C>A (p.Arg619Ser) c.1746C>A c.793+2572C>A c.1750C>A (p.Arg584Ser) c.1807C>A (p.Arg603Ser) c.1756C>A (p.Arg586Ser) c.1861C>A (p.Arg621Ser) c.1768C>A (p.Arg590Ser) c.1867C>A (p.Arg623Ser) c.1897C>A (p.Arg633Ser) c.1888C>A (p.Arg630Ser) c.1858C>A (p.Arg620Ser) c.1801C>A (p.Arg601Ser) c.1747C>A (p.Arg583Ser) c.1540C>A (p.Arg514Ser) c.1954C>A (p.Arg652Ser) c.1948C>A (p.Arg650Ser) c.1945C>A (p.Arg649Ser) c.2005C>A (p.Arg669Ser) c.1996C>A (p.Arg666Ser) c.1915C>A (p.Arg639Ser) c.1864C>A (p.Arg622Ser) | |
| 14 | g.33800153C= | CA2128326974 | NPAS3 | c.1846C= (p.Arg616=) c.1855C= (p.Arg619=) c.1746C= c.793+2572C= c.1750C= (p.Arg584=) c.1807C= (p.Arg603=) c.1756C= (p.Arg586=) c.1861C= (p.Arg621=) c.1768C= (p.Arg590=) c.1867C= (p.Arg623=) c.1897C= (p.Arg633=) c.1888C= (p.Arg630=) c.1858C= (p.Arg620=) c.1801C= (p.Arg601=) c.1747C= (p.Arg583=) c.1540C= (p.Arg514=) c.1954C= (p.Arg652=) c.1948C= (p.Arg650=) c.1945C= (p.Arg649=) c.2005C= (p.Arg669=) c.1996C= (p.Arg666=) c.1915C= (p.Arg639=) c.1864C= (p.Arg622=) | |
| 14 | g.33800153C>G | CA389412789 | NPAS3 | c.1846C>G (p.Arg616Gly) c.1855C>G (p.Arg619Gly) c.1746C>G c.793+2572C>G c.1750C>G (p.Arg584Gly) c.1807C>G (p.Arg603Gly) c.1756C>G (p.Arg586Gly) c.1861C>G (p.Arg621Gly) c.1768C>G (p.Arg590Gly) c.1867C>G (p.Arg623Gly) c.1897C>G (p.Arg633Gly) c.1888C>G (p.Arg630Gly) c.1858C>G (p.Arg620Gly) c.1801C>G (p.Arg601Gly) c.1747C>G (p.Arg583Gly) c.1540C>G (p.Arg514Gly) c.1954C>G (p.Arg652Gly) c.1948C>G (p.Arg650Gly) c.1945C>G (p.Arg649Gly) c.2005C>G (p.Arg669Gly) c.1996C>G (p.Arg666Gly) c.1915C>G (p.Arg639Gly) c.1864C>G (p.Arg622Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800153C>T | CA389412791 | NPAS3 | c.1846C>T (p.Arg616Cys) c.1855C>T (p.Arg619Cys) c.1746C>T c.793+2572C>T c.1750C>T (p.Arg584Cys) c.1807C>T (p.Arg603Cys) c.1756C>T (p.Arg586Cys) c.1861C>T (p.Arg621Cys) c.1768C>T (p.Arg590Cys) c.1867C>T (p.Arg623Cys) c.1897C>T (p.Arg633Cys) c.1888C>T (p.Arg630Cys) c.1858C>T (p.Arg620Cys) c.1801C>T (p.Arg601Cys) c.1747C>T (p.Arg583Cys) c.1540C>T (p.Arg514Cys) c.1954C>T (p.Arg652Cys) c.1948C>T (p.Arg650Cys) c.1945C>T (p.Arg649Cys) c.2005C>T (p.Arg669Cys) c.1996C>T (p.Arg666Cys) c.1915C>T (p.Arg639Cys) c.1864C>T (p.Arg622Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800154G>A | CA389412796 | NPAS3 | c.1847G>A (p.Arg616His) c.1856G>A (p.Arg619His) c.1747G>A c.793+2573G>A c.1751G>A (p.Arg584His) c.1808G>A (p.Arg603His) c.1757G>A (p.Arg586His) c.1862G>A (p.Arg621His) c.1769G>A (p.Arg590His) c.1868G>A (p.Arg623His) c.1898G>A (p.Arg633His) c.1889G>A (p.Arg630His) c.1859G>A (p.Arg620His) c.1802G>A (p.Arg601His) c.1748G>A (p.Arg583His) c.1541G>A (p.Arg514His) c.1955G>A (p.Arg652His) c.1949G>A (p.Arg650His) c.1946G>A (p.Arg649His) c.2006G>A (p.Arg669His) c.1997G>A (p.Arg666His) c.1916G>A (p.Arg639His) c.1865G>A (p.Arg622His) | |
| 14 | g.33800154G>C | CA389412798 | NPAS3 | c.1847G>C (p.Arg616Pro) c.1856G>C (p.Arg619Pro) c.1747G>C c.793+2573G>C c.1751G>C (p.Arg584Pro) c.1808G>C (p.Arg603Pro) c.1757G>C (p.Arg586Pro) c.1862G>C (p.Arg621Pro) c.1769G>C (p.Arg590Pro) c.1868G>C (p.Arg623Pro) c.1898G>C (p.Arg633Pro) c.1889G>C (p.Arg630Pro) c.1859G>C (p.Arg620Pro) c.1802G>C (p.Arg601Pro) c.1748G>C (p.Arg583Pro) c.1541G>C (p.Arg514Pro) c.1955G>C (p.Arg652Pro) c.1949G>C (p.Arg650Pro) c.1946G>C (p.Arg649Pro) c.2006G>C (p.Arg669Pro) c.1997G>C (p.Arg666Pro) c.1916G>C (p.Arg639Pro) c.1865G>C (p.Arg622Pro) | |
| 14 | g.33800154G>T | CA389412802 | NPAS3 | c.1847G>T (p.Arg616Leu) c.1856G>T (p.Arg619Leu) c.1747G>T c.793+2573G>T c.1751G>T (p.Arg584Leu) c.1808G>T (p.Arg603Leu) c.1757G>T (p.Arg586Leu) c.1862G>T (p.Arg621Leu) c.1769G>T (p.Arg590Leu) c.1868G>T (p.Arg623Leu) c.1898G>T (p.Arg633Leu) c.1889G>T (p.Arg630Leu) c.1859G>T (p.Arg620Leu) c.1802G>T (p.Arg601Leu) c.1748G>T (p.Arg583Leu) c.1541G>T (p.Arg514Leu) c.1955G>T (p.Arg652Leu) c.1949G>T (p.Arg650Leu) c.1946G>T (p.Arg649Leu) c.2006G>T (p.Arg669Leu) c.1997G>T (p.Arg666Leu) c.1916G>T (p.Arg639Leu) c.1865G>T (p.Arg622Leu) | |
| 14 | g.33800155C>A | CA486092836 | NPAS3 | c.1848C>A (p.Arg616=) c.1857C>A (p.Arg619=) c.1748C>A c.793+2574C>A c.1752C>A (p.Arg584=) c.1809C>A (p.Arg603=) c.1758C>A (p.Arg586=) c.1863C>A (p.Arg621=) c.1770C>A (p.Arg590=) c.1869C>A (p.Arg623=) c.1899C>A (p.Arg633=) c.1890C>A (p.Arg630=) c.1860C>A (p.Arg620=) c.1803C>A (p.Arg601=) c.1749C>A (p.Arg583=) c.1542C>A (p.Arg514=) c.1956C>A (p.Arg652=) c.1950C>A (p.Arg650=) c.1947C>A (p.Arg649=) c.2007C>A (p.Arg669=) c.1998C>A (p.Arg666=) c.1917C>A (p.Arg639=) c.1866C>A (p.Arg622=) | |
| 14 | g.33800155C>G | CA486092838 | NPAS3 | c.1848C>G (p.Arg616=) c.1857C>G (p.Arg619=) c.1748C>G c.793+2574C>G c.1752C>G (p.Arg584=) c.1809C>G (p.Arg603=) c.1758C>G (p.Arg586=) c.1863C>G (p.Arg621=) c.1770C>G (p.Arg590=) c.1869C>G (p.Arg623=) c.1899C>G (p.Arg633=) c.1890C>G (p.Arg630=) c.1860C>G (p.Arg620=) c.1803C>G (p.Arg601=) c.1749C>G (p.Arg583=) c.1542C>G (p.Arg514=) c.1956C>G (p.Arg652=) c.1950C>G (p.Arg650=) c.1947C>G (p.Arg649=) c.2007C>G (p.Arg669=) c.1998C>G (p.Arg666=) c.1917C>G (p.Arg639=) c.1866C>G (p.Arg622=) | |
| 14 | g.33800155C>T | CA486092837 | NPAS3 | c.1848C>T (p.Arg616=) c.1857C>T (p.Arg619=) c.1748C>T c.793+2574C>T c.1752C>T (p.Arg584=) c.1809C>T (p.Arg603=) c.1758C>T (p.Arg586=) c.1863C>T (p.Arg621=) c.1770C>T (p.Arg590=) c.1869C>T (p.Arg623=) c.1899C>T (p.Arg633=) c.1890C>T (p.Arg630=) c.1860C>T (p.Arg620=) c.1803C>T (p.Arg601=) c.1749C>T (p.Arg583=) c.1542C>T (p.Arg514=) c.1956C>T (p.Arg652=) c.1950C>T (p.Arg650=) c.1947C>T (p.Arg649=) c.2007C>T (p.Arg669=) c.1998C>T (p.Arg666=) c.1917C>T (p.Arg639=) c.1866C>T (p.Arg622=) | |
| 14 | g.33800156C>A | CA389412805 | NPAS3 | c.1849C>A (p.Leu617Met) c.1858C>A (p.Leu620Met) c.1749C>A c.793+2575C>A c.1753C>A (p.Leu585Met) c.1810C>A (p.Leu604Met) c.1759C>A (p.Leu587Met) c.1864C>A (p.Leu622Met) c.1771C>A (p.Leu591Met) c.1870C>A (p.Leu624Met) c.1900C>A (p.Leu634Met) c.1891C>A (p.Leu631Met) c.1861C>A (p.Leu621Met) c.1804C>A (p.Leu602Met) c.1750C>A (p.Leu584Met) c.1543C>A (p.Leu515Met) c.1957C>A (p.Leu653Met) c.1951C>A (p.Leu651Met) c.1948C>A (p.Leu650Met) c.2008C>A (p.Leu670Met) c.1999C>A (p.Leu667Met) c.1918C>A (p.Leu640Met) c.1867C>A (p.Leu623Met) | gnomAD v4 |
| 14 | g.33800156C>G | CA389412808 | NPAS3 | c.1849C>G (p.Leu617Val) c.1858C>G (p.Leu620Val) c.1749C>G c.793+2575C>G c.1753C>G (p.Leu585Val) c.1810C>G (p.Leu604Val) c.1759C>G (p.Leu587Val) c.1864C>G (p.Leu622Val) c.1771C>G (p.Leu591Val) c.1870C>G (p.Leu624Val) c.1900C>G (p.Leu634Val) c.1891C>G (p.Leu631Val) c.1861C>G (p.Leu621Val) c.1804C>G (p.Leu602Val) c.1750C>G (p.Leu584Val) c.1543C>G (p.Leu515Val) c.1957C>G (p.Leu653Val) c.1951C>G (p.Leu651Val) c.1948C>G (p.Leu650Val) c.2008C>G (p.Leu670Val) c.1999C>G (p.Leu667Val) c.1918C>G (p.Leu640Val) c.1867C>G (p.Leu623Val) | |
| 14 | g.33800156C>T | CA486092839 | NPAS3 | c.1849C>T (p.Leu617=) c.1858C>T (p.Leu620=) c.1749C>T c.793+2575C>T c.1753C>T (p.Leu585=) c.1810C>T (p.Leu604=) c.1759C>T (p.Leu587=) c.1864C>T (p.Leu622=) c.1771C>T (p.Leu591=) c.1870C>T (p.Leu624=) c.1900C>T (p.Leu634=) c.1891C>T (p.Leu631=) c.1861C>T (p.Leu621=) c.1804C>T (p.Leu602=) c.1750C>T (p.Leu584=) c.1543C>T (p.Leu515=) c.1957C>T (p.Leu653=) c.1951C>T (p.Leu651=) c.1948C>T (p.Leu650=) c.2008C>T (p.Leu670=) c.1999C>T (p.Leu667=) c.1918C>T (p.Leu640=) c.1867C>T (p.Leu623=) | |
| 14 | g.33800157T>A | CA389412812 | NPAS3 | c.1850T>A (p.Leu617Gln) c.1859T>A (p.Leu620Gln) c.1750T>A c.793+2576T>A c.1754T>A (p.Leu585Gln) c.1811T>A (p.Leu604Gln) c.1760T>A (p.Leu587Gln) c.1865T>A (p.Leu622Gln) c.1772T>A (p.Leu591Gln) c.1871T>A (p.Leu624Gln) c.1901T>A (p.Leu634Gln) c.1892T>A (p.Leu631Gln) c.1862T>A (p.Leu621Gln) c.1805T>A (p.Leu602Gln) c.1751T>A (p.Leu584Gln) c.1544T>A (p.Leu515Gln) c.1958T>A (p.Leu653Gln) c.1952T>A (p.Leu651Gln) c.1949T>A (p.Leu650Gln) c.2009T>A (p.Leu670Gln) c.2000T>A (p.Leu667Gln) c.1919T>A (p.Leu640Gln) c.1868T>A (p.Leu623Gln) | gnomAD v4 |
| 14 | g.33800157T>C | CA389412814 | NPAS3 | c.1850T>C (p.Leu617Pro) c.1859T>C (p.Leu620Pro) c.1750T>C c.793+2576T>C c.1754T>C (p.Leu585Pro) c.1811T>C (p.Leu604Pro) c.1760T>C (p.Leu587Pro) c.1865T>C (p.Leu622Pro) c.1772T>C (p.Leu591Pro) c.1871T>C (p.Leu624Pro) c.1901T>C (p.Leu634Pro) c.1892T>C (p.Leu631Pro) c.1862T>C (p.Leu621Pro) c.1805T>C (p.Leu602Pro) c.1751T>C (p.Leu584Pro) c.1544T>C (p.Leu515Pro) c.1958T>C (p.Leu653Pro) c.1952T>C (p.Leu651Pro) c.1949T>C (p.Leu650Pro) c.2009T>C (p.Leu670Pro) c.2000T>C (p.Leu667Pro) c.1919T>C (p.Leu640Pro) c.1868T>C (p.Leu623Pro) | gnomAD v4 |
| 14 | g.33800157T>G | CA389412816 | NPAS3 | c.1850T>G (p.Leu617Arg) c.1859T>G (p.Leu620Arg) c.1750T>G c.793+2576T>G c.1754T>G (p.Leu585Arg) c.1811T>G (p.Leu604Arg) c.1760T>G (p.Leu587Arg) c.1865T>G (p.Leu622Arg) c.1772T>G (p.Leu591Arg) c.1871T>G (p.Leu624Arg) c.1901T>G (p.Leu634Arg) c.1892T>G (p.Leu631Arg) c.1862T>G (p.Leu621Arg) c.1805T>G (p.Leu602Arg) c.1751T>G (p.Leu584Arg) c.1544T>G (p.Leu515Arg) c.1958T>G (p.Leu653Arg) c.1952T>G (p.Leu651Arg) c.1949T>G (p.Leu650Arg) c.2009T>G (p.Leu670Arg) c.2000T>G (p.Leu667Arg) c.1919T>G (p.Leu640Arg) c.1868T>G (p.Leu623Arg) | |
| 14 | g.33800158G>A | CA486092844 | NPAS3 | c.1851G>A (p.Leu617=) c.1860G>A (p.Leu620=) c.1751G>A c.793+2577G>A c.1755G>A (p.Leu585=) c.1812G>A (p.Leu604=) c.1761G>A (p.Leu587=) c.1866G>A (p.Leu622=) c.1773G>A (p.Leu591=) c.1872G>A (p.Leu624=) c.1902G>A (p.Leu634=) c.1893G>A (p.Leu631=) c.1863G>A (p.Leu621=) c.1806G>A (p.Leu602=) c.1752G>A (p.Leu584=) c.1545G>A (p.Leu515=) c.1959G>A (p.Leu653=) c.1953G>A (p.Leu651=) c.1950G>A (p.Leu650=) c.2010G>A (p.Leu670=) c.2001G>A (p.Leu667=) c.1920G>A (p.Leu640=) c.1869G>A (p.Leu623=) | |
| 14 | g.33800158G>C | CA486092843 | NPAS3 | c.1851G>C (p.Leu617=) c.1860G>C (p.Leu620=) c.1751G>C c.793+2577G>C c.1755G>C (p.Leu585=) c.1812G>C (p.Leu604=) c.1761G>C (p.Leu587=) c.1866G>C (p.Leu622=) c.1773G>C (p.Leu591=) c.1872G>C (p.Leu624=) c.1902G>C (p.Leu634=) c.1893G>C (p.Leu631=) c.1863G>C (p.Leu621=) c.1806G>C (p.Leu602=) c.1752G>C (p.Leu584=) c.1545G>C (p.Leu515=) c.1959G>C (p.Leu653=) c.1953G>C (p.Leu651=) c.1950G>C (p.Leu650=) c.2010G>C (p.Leu670=) c.2001G>C (p.Leu667=) c.1920G>C (p.Leu640=) c.1869G>C (p.Leu623=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800158G= | CA2128326977 | NPAS3 | c.1851G= (p.Leu617=) c.1860G= (p.Leu620=) c.1751G= c.793+2577G= c.1755G= (p.Leu585=) c.1812G= (p.Leu604=) c.1761G= (p.Leu587=) c.1866G= (p.Leu622=) c.1773G= (p.Leu591=) c.1872G= (p.Leu624=) c.1902G= (p.Leu634=) c.1893G= (p.Leu631=) c.1863G= (p.Leu621=) c.1806G= (p.Leu602=) c.1752G= (p.Leu584=) c.1545G= (p.Leu515=) c.1959G= (p.Leu653=) c.1953G= (p.Leu651=) c.1950G= (p.Leu650=) c.2010G= (p.Leu670=) c.2001G= (p.Leu667=) c.1920G= (p.Leu640=) c.1869G= (p.Leu623=) | |
| 14 | g.33800158G>T | CA258718779 | NPAS3 | c.1851G>T (p.Leu617=) c.1860G>T (p.Leu620=) c.1751G>T c.793+2577G>T c.1755G>T (p.Leu585=) c.1812G>T (p.Leu604=) c.1761G>T (p.Leu587=) c.1866G>T (p.Leu622=) c.1773G>T (p.Leu591=) c.1872G>T (p.Leu624=) c.1902G>T (p.Leu634=) c.1893G>T (p.Leu631=) c.1863G>T (p.Leu621=) c.1806G>T (p.Leu602=) c.1752G>T (p.Leu584=) c.1545G>T (p.Leu515=) c.1959G>T (p.Leu653=) c.1953G>T (p.Leu651=) c.1950G>T (p.Leu650=) c.2010G>T (p.Leu670=) c.2001G>T (p.Leu667=) c.1920G>T (p.Leu640=) c.1869G>T (p.Leu623=) | dbSNP gnomAD v4 |
| 14 | g.33800159T>A | CA389412821 | NPAS3 | c.1852T>A (p.Ser618Thr) c.1861T>A (p.Ser621Thr) c.1752T>A c.793+2578T>A c.1756T>A (p.Ser586Thr) c.1813T>A (p.Ser605Thr) c.1762T>A (p.Ser588Thr) c.1867T>A (p.Ser623Thr) c.1774T>A (p.Ser592Thr) c.1873T>A (p.Ser625Thr) c.1903T>A (p.Ser635Thr) c.1894T>A (p.Ser632Thr) c.1864T>A (p.Ser622Thr) c.1807T>A (p.Ser603Thr) c.1753T>A (p.Ser585Thr) c.1546T>A (p.Ser516Thr) c.1960T>A (p.Ser654Thr) c.1954T>A (p.Ser652Thr) c.1951T>A (p.Ser651Thr) c.2011T>A (p.Ser671Thr) c.2002T>A (p.Ser668Thr) c.1921T>A (p.Ser641Thr) c.1870T>A (p.Ser624Thr) | |
| 14 | g.33800159T>C | CA389412828 | NPAS3 | c.1852T>C (p.Ser618Pro) c.1861T>C (p.Ser621Pro) c.1752T>C c.793+2578T>C c.1756T>C (p.Ser586Pro) c.1813T>C (p.Ser605Pro) c.1762T>C (p.Ser588Pro) c.1867T>C (p.Ser623Pro) c.1774T>C (p.Ser592Pro) c.1873T>C (p.Ser625Pro) c.1903T>C (p.Ser635Pro) c.1894T>C (p.Ser632Pro) c.1864T>C (p.Ser622Pro) c.1807T>C (p.Ser603Pro) c.1753T>C (p.Ser585Pro) c.1546T>C (p.Ser516Pro) c.1960T>C (p.Ser654Pro) c.1954T>C (p.Ser652Pro) c.1951T>C (p.Ser651Pro) c.2011T>C (p.Ser671Pro) c.2002T>C (p.Ser668Pro) c.1921T>C (p.Ser641Pro) c.1870T>C (p.Ser624Pro) | |
| 14 | g.33800159T>G | CA389412823 | NPAS3 | c.1852T>G (p.Ser618Ala) c.1861T>G (p.Ser621Ala) c.1752T>G c.793+2578T>G c.1756T>G (p.Ser586Ala) c.1813T>G (p.Ser605Ala) c.1762T>G (p.Ser588Ala) c.1867T>G (p.Ser623Ala) c.1774T>G (p.Ser592Ala) c.1873T>G (p.Ser625Ala) c.1903T>G (p.Ser635Ala) c.1894T>G (p.Ser632Ala) c.1864T>G (p.Ser622Ala) c.1807T>G (p.Ser603Ala) c.1753T>G (p.Ser585Ala) c.1546T>G (p.Ser516Ala) c.1960T>G (p.Ser654Ala) c.1954T>G (p.Ser652Ala) c.1951T>G (p.Ser651Ala) c.2011T>G (p.Ser671Ala) c.2002T>G (p.Ser668Ala) c.1921T>G (p.Ser641Ala) c.1870T>G (p.Ser624Ala) | |
| 14 | g.33800160C>A | CA389412830 | NPAS3 | c.1853C>A (p.Ser618Tyr) c.1862C>A (p.Ser621Tyr) c.1753C>A c.793+2579C>A c.1757C>A (p.Ser586Tyr) c.1814C>A (p.Ser605Tyr) c.1763C>A (p.Ser588Tyr) c.1868C>A (p.Ser623Tyr) c.1775C>A (p.Ser592Tyr) c.1874C>A (p.Ser625Tyr) c.1904C>A (p.Ser635Tyr) c.1895C>A (p.Ser632Tyr) c.1865C>A (p.Ser622Tyr) c.1808C>A (p.Ser603Tyr) c.1754C>A (p.Ser585Tyr) c.1547C>A (p.Ser516Tyr) c.1961C>A (p.Ser654Tyr) c.1955C>A (p.Ser652Tyr) c.1952C>A (p.Ser651Tyr) c.2012C>A (p.Ser671Tyr) c.2003C>A (p.Ser668Tyr) c.1922C>A (p.Ser641Tyr) c.1871C>A (p.Ser624Tyr) | |
| 14 | g.33800160C>G | CA389412832 | NPAS3 | c.1853C>G (p.Ser618Cys) c.1862C>G (p.Ser621Cys) c.1753C>G c.793+2579C>G c.1757C>G (p.Ser586Cys) c.1814C>G (p.Ser605Cys) c.1763C>G (p.Ser588Cys) c.1868C>G (p.Ser623Cys) c.1775C>G (p.Ser592Cys) c.1874C>G (p.Ser625Cys) c.1904C>G (p.Ser635Cys) c.1895C>G (p.Ser632Cys) c.1865C>G (p.Ser622Cys) c.1808C>G (p.Ser603Cys) c.1754C>G (p.Ser585Cys) c.1547C>G (p.Ser516Cys) c.1961C>G (p.Ser654Cys) c.1955C>G (p.Ser652Cys) c.1952C>G (p.Ser651Cys) c.2012C>G (p.Ser671Cys) c.2003C>G (p.Ser668Cys) c.1922C>G (p.Ser641Cys) c.1871C>G (p.Ser624Cys) | gnomAD v4 |
| 14 | g.33800160C>T | CA389412834 | NPAS3 | c.1853C>T (p.Ser618Phe) c.1862C>T (p.Ser621Phe) c.1753C>T c.793+2579C>T c.1757C>T (p.Ser586Phe) c.1814C>T (p.Ser605Phe) c.1763C>T (p.Ser588Phe) c.1868C>T (p.Ser623Phe) c.1775C>T (p.Ser592Phe) c.1874C>T (p.Ser625Phe) c.1904C>T (p.Ser635Phe) c.1895C>T (p.Ser632Phe) c.1865C>T (p.Ser622Phe) c.1808C>T (p.Ser603Phe) c.1754C>T (p.Ser585Phe) c.1547C>T (p.Ser516Phe) c.1961C>T (p.Ser654Phe) c.1955C>T (p.Ser652Phe) c.1952C>T (p.Ser651Phe) c.2012C>T (p.Ser671Phe) c.2003C>T (p.Ser668Phe) c.1922C>T (p.Ser641Phe) c.1871C>T (p.Ser624Phe) | gnomAD v4 |
| 14 | g.33800161C>A | CA486092846 | NPAS3 | c.1854C>A (p.Ser618=) c.1863C>A (p.Ser621=) c.1754C>A c.793+2580C>A c.1758C>A (p.Ser586=) c.1815C>A (p.Ser605=) c.1764C>A (p.Ser588=) c.1869C>A (p.Ser623=) c.1776C>A (p.Ser592=) c.1875C>A (p.Ser625=) c.1905C>A (p.Ser635=) c.1896C>A (p.Ser632=) c.1866C>A (p.Ser622=) c.1809C>A (p.Ser603=) c.1755C>A (p.Ser585=) c.1548C>A (p.Ser516=) c.1962C>A (p.Ser654=) c.1956C>A (p.Ser652=) c.1953C>A (p.Ser651=) c.2013C>A (p.Ser671=) c.2004C>A (p.Ser668=) c.1923C>A (p.Ser641=) c.1872C>A (p.Ser624=) | |
| 14 | g.33800161C= | CA2128326980 | NPAS3 | c.1854C= (p.Ser618=) c.1863C= (p.Ser621=) c.1754C= c.793+2580C= c.1758C= (p.Ser586=) c.1815C= (p.Ser605=) c.1764C= (p.Ser588=) c.1869C= (p.Ser623=) c.1776C= (p.Ser592=) c.1875C= (p.Ser625=) c.1905C= (p.Ser635=) c.1896C= (p.Ser632=) c.1866C= (p.Ser622=) c.1809C= (p.Ser603=) c.1755C= (p.Ser585=) c.1548C= (p.Ser516=) c.1962C= (p.Ser654=) c.1956C= (p.Ser652=) c.1953C= (p.Ser651=) c.2013C= (p.Ser671=) c.2004C= (p.Ser668=) c.1923C= (p.Ser641=) c.1872C= (p.Ser624=) | |
| 14 | g.33800161C>G | CA486092848 | NPAS3 | c.1854C>G (p.Ser618=) c.1863C>G (p.Ser621=) c.1754C>G c.793+2580C>G c.1758C>G (p.Ser586=) c.1815C>G (p.Ser605=) c.1764C>G (p.Ser588=) c.1869C>G (p.Ser623=) c.1776C>G (p.Ser592=) c.1875C>G (p.Ser625=) c.1905C>G (p.Ser635=) c.1896C>G (p.Ser632=) c.1866C>G (p.Ser622=) c.1809C>G (p.Ser603=) c.1755C>G (p.Ser585=) c.1548C>G (p.Ser516=) c.1962C>G (p.Ser654=) c.1956C>G (p.Ser652=) c.1953C>G (p.Ser651=) c.2013C>G (p.Ser671=) c.2004C>G (p.Ser668=) c.1923C>G (p.Ser641=) c.1872C>G (p.Ser624=) | |
| 14 | g.33800161C>T | CA486092847 | NPAS3 | c.1854C>T (p.Ser618=) c.1863C>T (p.Ser621=) c.1754C>T c.793+2580C>T c.1758C>T (p.Ser586=) c.1815C>T (p.Ser605=) c.1764C>T (p.Ser588=) c.1869C>T (p.Ser623=) c.1776C>T (p.Ser592=) c.1875C>T (p.Ser625=) c.1905C>T (p.Ser635=) c.1896C>T (p.Ser632=) c.1866C>T (p.Ser622=) c.1809C>T (p.Ser603=) c.1755C>T (p.Ser585=) c.1548C>T (p.Ser516=) c.1962C>T (p.Ser654=) c.1956C>T (p.Ser652=) c.1953C>T (p.Ser651=) c.2013C>T (p.Ser671=) c.2004C>T (p.Ser668=) c.1923C>T (p.Ser641=) c.1872C>T (p.Ser624=) | dbSNP |
| 14 | g.33800162A>C | CA389412835 | NPAS3 | c.1855A>C (p.Ser619Arg) c.1864A>C (p.Ser622Arg) c.1755A>C c.793+2581A>C c.1759A>C (p.Ser587Arg) c.1816A>C (p.Ser606Arg) c.1765A>C (p.Ser589Arg) c.1870A>C (p.Ser624Arg) c.1777A>C (p.Ser593Arg) c.1876A>C (p.Ser626Arg) c.1906A>C (p.Ser636Arg) c.1897A>C (p.Ser633Arg) c.1867A>C (p.Ser623Arg) c.1810A>C (p.Ser604Arg) c.1756A>C (p.Ser586Arg) c.1549A>C (p.Ser517Arg) c.1963A>C (p.Ser655Arg) c.1957A>C (p.Ser653Arg) c.1954A>C (p.Ser652Arg) c.2014A>C (p.Ser672Arg) c.2005A>C (p.Ser669Arg) c.1924A>C (p.Ser642Arg) c.1873A>C (p.Ser625Arg) | |
| 14 | g.33800162A>G | CA389412836 | NPAS3 | c.1855A>G (p.Ser619Gly) c.1864A>G (p.Ser622Gly) c.1755A>G c.793+2581A>G c.1759A>G (p.Ser587Gly) c.1816A>G (p.Ser606Gly) c.1765A>G (p.Ser589Gly) c.1870A>G (p.Ser624Gly) c.1777A>G (p.Ser593Gly) c.1876A>G (p.Ser626Gly) c.1906A>G (p.Ser636Gly) c.1897A>G (p.Ser633Gly) c.1867A>G (p.Ser623Gly) c.1810A>G (p.Ser604Gly) c.1756A>G (p.Ser586Gly) c.1549A>G (p.Ser517Gly) c.1963A>G (p.Ser655Gly) c.1957A>G (p.Ser653Gly) c.1954A>G (p.Ser652Gly) c.2014A>G (p.Ser672Gly) c.2005A>G (p.Ser669Gly) c.1924A>G (p.Ser642Gly) c.1873A>G (p.Ser625Gly) | |
| 14 | g.33800162A>T | CA389412838 | NPAS3 | c.1855A>T (p.Ser619Cys) c.1864A>T (p.Ser622Cys) c.1755A>T c.793+2581A>T c.1759A>T (p.Ser587Cys) c.1816A>T (p.Ser606Cys) c.1765A>T (p.Ser589Cys) c.1870A>T (p.Ser624Cys) c.1777A>T (p.Ser593Cys) c.1876A>T (p.Ser626Cys) c.1906A>T (p.Ser636Cys) c.1897A>T (p.Ser633Cys) c.1867A>T (p.Ser623Cys) c.1810A>T (p.Ser604Cys) c.1756A>T (p.Ser586Cys) c.1549A>T (p.Ser517Cys) c.1963A>T (p.Ser655Cys) c.1957A>T (p.Ser653Cys) c.1954A>T (p.Ser652Cys) c.2014A>T (p.Ser672Cys) c.2005A>T (p.Ser669Cys) c.1924A>T (p.Ser642Cys) c.1873A>T (p.Ser625Cys) | |
| 14 | g.33800163G>A | CA389412840 | NPAS3 | c.1856G>A (p.Ser619Asn) c.1865G>A (p.Ser622Asn) c.1756G>A c.793+2582G>A c.1760G>A (p.Ser587Asn) c.1817G>A (p.Ser606Asn) c.1766G>A (p.Ser589Asn) c.1871G>A (p.Ser624Asn) c.1778G>A (p.Ser593Asn) c.1877G>A (p.Ser626Asn) c.1907G>A (p.Ser636Asn) c.1898G>A (p.Ser633Asn) c.1868G>A (p.Ser623Asn) c.1811G>A (p.Ser604Asn) c.1757G>A (p.Ser586Asn) c.1550G>A (p.Ser517Asn) c.1964G>A (p.Ser655Asn) c.1958G>A (p.Ser653Asn) c.1955G>A (p.Ser652Asn) c.2015G>A (p.Ser672Asn) c.2006G>A (p.Ser669Asn) c.1925G>A (p.Ser642Asn) c.1874G>A (p.Ser625Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800163G>C | CA389412842 | NPAS3 | c.1856G>C (p.Ser619Thr) c.1865G>C (p.Ser622Thr) c.1756G>C c.793+2582G>C c.1760G>C (p.Ser587Thr) c.1817G>C (p.Ser606Thr) c.1766G>C (p.Ser589Thr) c.1871G>C (p.Ser624Thr) c.1778G>C (p.Ser593Thr) c.1877G>C (p.Ser626Thr) c.1907G>C (p.Ser636Thr) c.1898G>C (p.Ser633Thr) c.1868G>C (p.Ser623Thr) c.1811G>C (p.Ser604Thr) c.1757G>C (p.Ser586Thr) c.1550G>C (p.Ser517Thr) c.1964G>C (p.Ser655Thr) c.1958G>C (p.Ser653Thr) c.1955G>C (p.Ser652Thr) c.2015G>C (p.Ser672Thr) c.2006G>C (p.Ser669Thr) c.1925G>C (p.Ser642Thr) c.1874G>C (p.Ser625Thr) | |
| 14 | g.33800163G= | CA2128326983 | NPAS3 | c.1856G= (p.Ser619=) c.1865G= (p.Ser622=) c.1756G= c.793+2582G= c.1760G= (p.Ser587=) c.1817G= (p.Ser606=) c.1766G= (p.Ser589=) c.1871G= (p.Ser624=) c.1778G= (p.Ser593=) c.1877G= (p.Ser626=) c.1907G= (p.Ser636=) c.1898G= (p.Ser633=) c.1868G= (p.Ser623=) c.1811G= (p.Ser604=) c.1757G= (p.Ser586=) c.1550G= (p.Ser517=) c.1964G= (p.Ser655=) c.1958G= (p.Ser653=) c.1955G= (p.Ser652=) c.2015G= (p.Ser672=) c.2006G= (p.Ser669=) c.1925G= (p.Ser642=) c.1874G= (p.Ser625=) | |
| 14 | g.33800163G>T | CA389412843 | NPAS3 | c.1856G>T (p.Ser619Ile) c.1865G>T (p.Ser622Ile) c.1756G>T c.793+2582G>T c.1760G>T (p.Ser587Ile) c.1817G>T (p.Ser606Ile) c.1766G>T (p.Ser589Ile) c.1871G>T (p.Ser624Ile) c.1778G>T (p.Ser593Ile) c.1877G>T (p.Ser626Ile) c.1907G>T (p.Ser636Ile) c.1898G>T (p.Ser633Ile) c.1868G>T (p.Ser623Ile) c.1811G>T (p.Ser604Ile) c.1757G>T (p.Ser586Ile) c.1550G>T (p.Ser517Ile) c.1964G>T (p.Ser655Ile) c.1958G>T (p.Ser653Ile) c.1955G>T (p.Ser652Ile) c.2015G>T (p.Ser672Ile) c.2006G>T (p.Ser669Ile) c.1925G>T (p.Ser642Ile) c.1874G>T (p.Ser625Ile) | gnomAD v4 |
| 14 | g.33800164C>A | CA389412845 | NPAS3 | c.1857C>A (p.Ser619Arg) c.1866C>A (p.Ser622Arg) c.1757C>A c.793+2583C>A c.1761C>A (p.Ser587Arg) c.1818C>A (p.Ser606Arg) c.1767C>A (p.Ser589Arg) c.1872C>A (p.Ser624Arg) c.1779C>A (p.Ser593Arg) c.1878C>A (p.Ser626Arg) c.1908C>A (p.Ser636Arg) c.1899C>A (p.Ser633Arg) c.1869C>A (p.Ser623Arg) c.1812C>A (p.Ser604Arg) c.1758C>A (p.Ser586Arg) c.1551C>A (p.Ser517Arg) c.1965C>A (p.Ser655Arg) c.1959C>A (p.Ser653Arg) c.1956C>A (p.Ser652Arg) c.2016C>A (p.Ser672Arg) c.2007C>A (p.Ser669Arg) c.1926C>A (p.Ser642Arg) c.1875C>A (p.Ser625Arg) | gnomAD v4 |
| 14 | g.33800164C= | CA2128326987 | NPAS3 | c.1857C= (p.Ser619=) c.1866C= (p.Ser622=) c.1757C= c.793+2583C= c.1761C= (p.Ser587=) c.1818C= (p.Ser606=) c.1767C= (p.Ser589=) c.1872C= (p.Ser624=) c.1779C= (p.Ser593=) c.1878C= (p.Ser626=) c.1908C= (p.Ser636=) c.1899C= (p.Ser633=) c.1869C= (p.Ser623=) c.1812C= (p.Ser604=) c.1758C= (p.Ser586=) c.1551C= (p.Ser517=) c.1965C= (p.Ser655=) c.1959C= (p.Ser653=) c.1956C= (p.Ser652=) c.2016C= (p.Ser672=) c.2007C= (p.Ser669=) c.1926C= (p.Ser642=) c.1875C= (p.Ser625=) | |
| 14 | g.33800164C>G | CA7150898 | NPAS3 | c.1857C>G (p.Ser619Arg) c.1866C>G (p.Ser622Arg) c.1757C>G c.793+2583C>G c.1761C>G (p.Ser587Arg) c.1818C>G (p.Ser606Arg) c.1767C>G (p.Ser589Arg) c.1872C>G (p.Ser624Arg) c.1779C>G (p.Ser593Arg) c.1878C>G (p.Ser626Arg) c.1908C>G (p.Ser636Arg) c.1899C>G (p.Ser633Arg) c.1869C>G (p.Ser623Arg) c.1812C>G (p.Ser604Arg) c.1758C>G (p.Ser586Arg) c.1551C>G (p.Ser517Arg) c.1965C>G (p.Ser655Arg) c.1959C>G (p.Ser653Arg) c.1956C>G (p.Ser652Arg) c.2016C>G (p.Ser672Arg) c.2007C>G (p.Ser669Arg) c.1926C>G (p.Ser642Arg) c.1875C>G (p.Ser625Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800164C>T | CA7150899 | NPAS3 | c.1857C>T (p.Ser619=) c.1866C>T (p.Ser622=) c.1757C>T c.793+2583C>T c.1761C>T (p.Ser587=) c.1818C>T (p.Ser606=) c.1767C>T (p.Ser589=) c.1872C>T (p.Ser624=) c.1779C>T (p.Ser593=) c.1878C>T (p.Ser626=) c.1908C>T (p.Ser636=) c.1899C>T (p.Ser633=) c.1869C>T (p.Ser623=) c.1812C>T (p.Ser604=) c.1758C>T (p.Ser586=) c.1551C>T (p.Ser517=) c.1965C>T (p.Ser655=) c.1959C>T (p.Ser653=) c.1956C>T (p.Ser652=) c.2016C>T (p.Ser672=) c.2007C>T (p.Ser669=) c.1926C>T (p.Ser642=) c.1875C>T (p.Ser625=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800165G>A | CA7150900 | NPAS3 | c.1858G>A (p.Ala620Thr) c.1867G>A (p.Ala623Thr) c.1758G>A c.793+2584G>A c.1762G>A (p.Ala588Thr) c.1819G>A (p.Ala607Thr) c.1768G>A (p.Ala590Thr) c.1873G>A (p.Ala625Thr) c.1780G>A (p.Ala594Thr) c.1879G>A (p.Ala627Thr) c.1909G>A (p.Ala637Thr) c.1900G>A (p.Ala634Thr) c.1870G>A (p.Ala624Thr) c.1813G>A (p.Ala605Thr) c.1759G>A (p.Ala587Thr) c.1552G>A (p.Ala518Thr) c.1966G>A (p.Ala656Thr) c.1960G>A (p.Ala654Thr) c.1957G>A (p.Ala653Thr) c.2017G>A (p.Ala673Thr) c.2008G>A (p.Ala670Thr) c.1927G>A (p.Ala643Thr) c.1876G>A (p.Ala626Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.33800165G>C | CA389412853 | NPAS3 | c.1858G>C (p.Ala620Pro) c.1867G>C (p.Ala623Pro) c.1758G>C c.793+2584G>C c.1762G>C (p.Ala588Pro) c.1819G>C (p.Ala607Pro) c.1768G>C (p.Ala590Pro) c.1873G>C (p.Ala625Pro) c.1780G>C (p.Ala594Pro) c.1879G>C (p.Ala627Pro) c.1909G>C (p.Ala637Pro) c.1900G>C (p.Ala634Pro) c.1870G>C (p.Ala624Pro) c.1813G>C (p.Ala605Pro) c.1759G>C (p.Ala587Pro) c.1552G>C (p.Ala518Pro) c.1966G>C (p.Ala656Pro) c.1960G>C (p.Ala654Pro) c.1957G>C (p.Ala653Pro) c.2017G>C (p.Ala673Pro) c.2008G>C (p.Ala670Pro) c.1927G>C (p.Ala643Pro) c.1876G>C (p.Ala626Pro) | |
| 14 | g.33800165G= | CA2128326996 | NPAS3 | c.1858G= (p.Ala620=) c.1867G= (p.Ala623=) c.1758G= c.793+2584G= c.1762G= (p.Ala588=) c.1819G= (p.Ala607=) c.1768G= (p.Ala590=) c.1873G= (p.Ala625=) c.1780G= (p.Ala594=) c.1879G= (p.Ala627=) c.1909G= (p.Ala637=) c.1900G= (p.Ala634=) c.1870G= (p.Ala624=) c.1813G= (p.Ala605=) c.1759G= (p.Ala587=) c.1552G= (p.Ala518=) c.1966G= (p.Ala656=) c.1960G= (p.Ala654=) c.1957G= (p.Ala653=) c.2017G= (p.Ala673=) c.2008G= (p.Ala670=) c.1927G= (p.Ala643=) c.1876G= (p.Ala626=) | |
| 14 | g.33800165G>T | CA389412850 | NPAS3 | c.1858G>T (p.Ala620Ser) c.1867G>T (p.Ala623Ser) c.1758G>T c.793+2584G>T c.1762G>T (p.Ala588Ser) c.1819G>T (p.Ala607Ser) c.1768G>T (p.Ala590Ser) c.1873G>T (p.Ala625Ser) c.1780G>T (p.Ala594Ser) c.1879G>T (p.Ala627Ser) c.1909G>T (p.Ala637Ser) c.1900G>T (p.Ala634Ser) c.1870G>T (p.Ala624Ser) c.1813G>T (p.Ala605Ser) c.1759G>T (p.Ala587Ser) c.1552G>T (p.Ala518Ser) c.1966G>T (p.Ala656Ser) c.1960G>T (p.Ala654Ser) c.1957G>T (p.Ala653Ser) c.2017G>T (p.Ala673Ser) c.2008G>T (p.Ala670Ser) c.1927G>T (p.Ala643Ser) c.1876G>T (p.Ala626Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800166C>A | CA389412855 | NPAS3 | c.1859C>A (p.Ala620Glu) c.1868C>A (p.Ala623Glu) c.1759C>A c.793+2585C>A c.1763C>A (p.Ala588Glu) c.1820C>A (p.Ala607Glu) c.1769C>A (p.Ala590Glu) c.1874C>A (p.Ala625Glu) c.1781C>A (p.Ala594Glu) c.1880C>A (p.Ala627Glu) c.1910C>A (p.Ala637Glu) c.1901C>A (p.Ala634Glu) c.1871C>A (p.Ala624Glu) c.1814C>A (p.Ala605Glu) c.1760C>A (p.Ala587Glu) c.1553C>A (p.Ala518Glu) c.1967C>A (p.Ala656Glu) c.1961C>A (p.Ala654Glu) c.1958C>A (p.Ala653Glu) c.2018C>A (p.Ala673Glu) c.2009C>A (p.Ala670Glu) c.1928C>A (p.Ala643Glu) c.1877C>A (p.Ala626Glu) | |
| 14 | g.33800166C= | CA2128326998 | NPAS3 | c.1859C= (p.Ala620=) c.1868C= (p.Ala623=) c.1759C= c.793+2585C= c.1763C= (p.Ala588=) c.1820C= (p.Ala607=) c.1769C= (p.Ala590=) c.1874C= (p.Ala625=) c.1781C= (p.Ala594=) c.1880C= (p.Ala627=) c.1910C= (p.Ala637=) c.1901C= (p.Ala634=) c.1871C= (p.Ala624=) c.1814C= (p.Ala605=) c.1760C= (p.Ala587=) c.1553C= (p.Ala518=) c.1967C= (p.Ala656=) c.1961C= (p.Ala654=) c.1958C= (p.Ala653=) c.2018C= (p.Ala673=) c.2009C= (p.Ala670=) c.1928C= (p.Ala643=) c.1877C= (p.Ala626=) | |
| 14 | g.33800166C>G | CA389412857 | NPAS3 | c.1859C>G (p.Ala620Gly) c.1868C>G (p.Ala623Gly) c.1759C>G c.793+2585C>G c.1763C>G (p.Ala588Gly) c.1820C>G (p.Ala607Gly) c.1769C>G (p.Ala590Gly) c.1874C>G (p.Ala625Gly) c.1781C>G (p.Ala594Gly) c.1880C>G (p.Ala627Gly) c.1910C>G (p.Ala637Gly) c.1901C>G (p.Ala634Gly) c.1871C>G (p.Ala624Gly) c.1814C>G (p.Ala605Gly) c.1760C>G (p.Ala587Gly) c.1553C>G (p.Ala518Gly) c.1967C>G (p.Ala656Gly) c.1961C>G (p.Ala654Gly) c.1958C>G (p.Ala653Gly) c.2018C>G (p.Ala673Gly) c.2009C>G (p.Ala670Gly) c.1928C>G (p.Ala643Gly) c.1877C>G (p.Ala626Gly) | |
| 14 | g.33800166C>T | CA389412859 | NPAS3 | c.1859C>T (p.Ala620Val) c.1868C>T (p.Ala623Val) c.1759C>T c.793+2585C>T c.1763C>T (p.Ala588Val) c.1820C>T (p.Ala607Val) c.1769C>T (p.Ala590Val) c.1874C>T (p.Ala625Val) c.1781C>T (p.Ala594Val) c.1880C>T (p.Ala627Val) c.1910C>T (p.Ala637Val) c.1901C>T (p.Ala634Val) c.1871C>T (p.Ala624Val) c.1814C>T (p.Ala605Val) c.1760C>T (p.Ala587Val) c.1553C>T (p.Ala518Val) c.1967C>T (p.Ala656Val) c.1961C>T (p.Ala654Val) c.1958C>T (p.Ala653Val) c.2018C>T (p.Ala673Val) c.2009C>T (p.Ala670Val) c.1928C>T (p.Ala643Val) c.1877C>T (p.Ala626Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800167G>A | CA258718820 | NPAS3 | c.1860G>A (p.Ala620=) c.1869G>A (p.Ala623=) c.1760G>A c.793+2586G>A c.1764G>A (p.Ala588=) c.1821G>A (p.Ala607=) c.1770G>A (p.Ala590=) c.1875G>A (p.Ala625=) c.1782G>A (p.Ala594=) c.1881G>A (p.Ala627=) c.1911G>A (p.Ala637=) c.1902G>A (p.Ala634=) c.1872G>A (p.Ala624=) c.1815G>A (p.Ala605=) c.1761G>A (p.Ala587=) c.1554G>A (p.Ala518=) c.1968G>A (p.Ala656=) c.1962G>A (p.Ala654=) c.1959G>A (p.Ala653=) c.2019G>A (p.Ala673=) c.2010G>A (p.Ala670=) c.1929G>A (p.Ala643=) c.1878G>A (p.Ala626=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800167G>C | CA7150901 | NPAS3 | c.1860G>C (p.Ala620=) c.1869G>C (p.Ala623=) c.1760G>C c.793+2586G>C c.1764G>C (p.Ala588=) c.1821G>C (p.Ala607=) c.1770G>C (p.Ala590=) c.1875G>C (p.Ala625=) c.1782G>C (p.Ala594=) c.1881G>C (p.Ala627=) c.1911G>C (p.Ala637=) c.1902G>C (p.Ala634=) c.1872G>C (p.Ala624=) c.1815G>C (p.Ala605=) c.1761G>C (p.Ala587=) c.1554G>C (p.Ala518=) c.1968G>C (p.Ala656=) c.1962G>C (p.Ala654=) c.1959G>C (p.Ala653=) c.2019G>C (p.Ala673=) c.2010G>C (p.Ala670=) c.1929G>C (p.Ala643=) c.1878G>C (p.Ala626=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800167G= | CA2128327002 | NPAS3 | c.1860G= (p.Ala620=) c.1869G= (p.Ala623=) c.1760G= c.793+2586G= c.1764G= (p.Ala588=) c.1821G= (p.Ala607=) c.1770G= (p.Ala590=) c.1875G= (p.Ala625=) c.1782G= (p.Ala594=) c.1881G= (p.Ala627=) c.1911G= (p.Ala637=) c.1902G= (p.Ala634=) c.1872G= (p.Ala624=) c.1815G= (p.Ala605=) c.1761G= (p.Ala587=) c.1554G= (p.Ala518=) c.1968G= (p.Ala656=) c.1962G= (p.Ala654=) c.1959G= (p.Ala653=) c.2019G= (p.Ala673=) c.2010G= (p.Ala670=) c.1929G= (p.Ala643=) c.1878G= (p.Ala626=) | |
| 14 | g.33800167G>T | CA486092853 | NPAS3 | c.1860G>T (p.Ala620=) c.1869G>T (p.Ala623=) c.1760G>T c.793+2586G>T c.1764G>T (p.Ala588=) c.1821G>T (p.Ala607=) c.1770G>T (p.Ala590=) c.1875G>T (p.Ala625=) c.1782G>T (p.Ala594=) c.1881G>T (p.Ala627=) c.1911G>T (p.Ala637=) c.1902G>T (p.Ala634=) c.1872G>T (p.Ala624=) c.1815G>T (p.Ala605=) c.1761G>T (p.Ala587=) c.1554G>T (p.Ala518=) c.1968G>T (p.Ala656=) c.1962G>T (p.Ala654=) c.1959G>T (p.Ala653=) c.2019G>T (p.Ala673=) c.2010G>T (p.Ala670=) c.1929G>T (p.Ala643=) c.1878G>T (p.Ala626=) | |
| 14 | g.33800168T>A | CA389412869 | NPAS3 | c.1861T>A (p.Ser621Thr) c.1870T>A (p.Ser624Thr) c.1761T>A c.793+2587T>A c.1765T>A (p.Ser589Thr) c.1822T>A (p.Ser608Thr) c.1771T>A (p.Ser591Thr) c.1876T>A (p.Ser626Thr) c.1783T>A (p.Ser595Thr) c.1882T>A (p.Ser628Thr) c.1912T>A (p.Ser638Thr) c.1903T>A (p.Ser635Thr) c.1873T>A (p.Ser625Thr) c.1816T>A (p.Ser606Thr) c.1762T>A (p.Ser588Thr) c.1555T>A (p.Ser519Thr) c.1969T>A (p.Ser657Thr) c.1963T>A (p.Ser655Thr) c.1960T>A (p.Ser654Thr) c.2020T>A (p.Ser674Thr) c.2011T>A (p.Ser671Thr) c.1930T>A (p.Ser644Thr) c.1879T>A (p.Ser627Thr) | |
| 14 | g.33800168T>C | CA389412865 | NPAS3 | c.1861T>C (p.Ser621Pro) c.1870T>C (p.Ser624Pro) c.1761T>C c.793+2587T>C c.1765T>C (p.Ser589Pro) c.1822T>C (p.Ser608Pro) c.1771T>C (p.Ser591Pro) c.1876T>C (p.Ser626Pro) c.1783T>C (p.Ser595Pro) c.1882T>C (p.Ser628Pro) c.1912T>C (p.Ser638Pro) c.1903T>C (p.Ser635Pro) c.1873T>C (p.Ser625Pro) c.1816T>C (p.Ser606Pro) c.1762T>C (p.Ser588Pro) c.1555T>C (p.Ser519Pro) c.1969T>C (p.Ser657Pro) c.1963T>C (p.Ser655Pro) c.1960T>C (p.Ser654Pro) c.2020T>C (p.Ser674Pro) c.2011T>C (p.Ser671Pro) c.1930T>C (p.Ser644Pro) c.1879T>C (p.Ser627Pro) | gnomAD v4 |
| 14 | g.33800168T>G | CA389412867 | NPAS3 | c.1861T>G (p.Ser621Ala) c.1870T>G (p.Ser624Ala) c.1761T>G c.793+2587T>G c.1765T>G (p.Ser589Ala) c.1822T>G (p.Ser608Ala) c.1771T>G (p.Ser591Ala) c.1876T>G (p.Ser626Ala) c.1783T>G (p.Ser595Ala) c.1882T>G (p.Ser628Ala) c.1912T>G (p.Ser638Ala) c.1903T>G (p.Ser635Ala) c.1873T>G (p.Ser625Ala) c.1816T>G (p.Ser606Ala) c.1762T>G (p.Ser588Ala) c.1555T>G (p.Ser519Ala) c.1969T>G (p.Ser657Ala) c.1963T>G (p.Ser655Ala) c.1960T>G (p.Ser654Ala) c.2020T>G (p.Ser674Ala) c.2011T>G (p.Ser671Ala) c.1930T>G (p.Ser644Ala) c.1879T>G (p.Ser627Ala) | gnomAD v4 |
| 14 | g.33800169C>A | CA389412871 | NPAS3 | c.1862C>A (p.Ser621Ter) c.1871C>A (p.Ser624Ter) c.1762C>A c.793+2588C>A c.1766C>A (p.Ser589Ter) c.1823C>A (p.Ser608Ter) c.1772C>A (p.Ser591Ter) c.1877C>A (p.Ser626Ter) c.1784C>A (p.Ser595Ter) c.1883C>A (p.Ser628Ter) c.1913C>A (p.Ser638Ter) c.1904C>A (p.Ser635Ter) c.1874C>A (p.Ser625Ter) c.1817C>A (p.Ser606Ter) c.1763C>A (p.Ser588Ter) c.1556C>A (p.Ser519Ter) c.1970C>A (p.Ser657Ter) c.1964C>A (p.Ser655Ter) c.1961C>A (p.Ser654Ter) c.2021C>A (p.Ser674Ter) c.2012C>A (p.Ser671Ter) c.1931C>A (p.Ser644Ter) c.1880C>A (p.Ser627Ter) | |
| 14 | g.33800169C>G | CA389412873 | NPAS3 | c.1862C>G (p.Ser621Trp) c.1871C>G (p.Ser624Trp) c.1762C>G c.793+2588C>G c.1766C>G (p.Ser589Trp) c.1823C>G (p.Ser608Trp) c.1772C>G (p.Ser591Trp) c.1877C>G (p.Ser626Trp) c.1784C>G (p.Ser595Trp) c.1883C>G (p.Ser628Trp) c.1913C>G (p.Ser638Trp) c.1904C>G (p.Ser635Trp) c.1874C>G (p.Ser625Trp) c.1817C>G (p.Ser606Trp) c.1763C>G (p.Ser588Trp) c.1556C>G (p.Ser519Trp) c.1970C>G (p.Ser657Trp) c.1964C>G (p.Ser655Trp) c.1961C>G (p.Ser654Trp) c.2021C>G (p.Ser674Trp) c.2012C>G (p.Ser671Trp) c.1931C>G (p.Ser644Trp) c.1880C>G (p.Ser627Trp) | |
| 14 | g.33800169C>T | CA389412880 | NPAS3 | c.1862C>T (p.Ser621Leu) c.1871C>T (p.Ser624Leu) c.1762C>T c.793+2588C>T c.1766C>T (p.Ser589Leu) c.1823C>T (p.Ser608Leu) c.1772C>T (p.Ser591Leu) c.1877C>T (p.Ser626Leu) c.1784C>T (p.Ser595Leu) c.1883C>T (p.Ser628Leu) c.1913C>T (p.Ser638Leu) c.1904C>T (p.Ser635Leu) c.1874C>T (p.Ser625Leu) c.1817C>T (p.Ser606Leu) c.1763C>T (p.Ser588Leu) c.1556C>T (p.Ser519Leu) c.1970C>T (p.Ser657Leu) c.1964C>T (p.Ser655Leu) c.1961C>T (p.Ser654Leu) c.2021C>T (p.Ser674Leu) c.2012C>T (p.Ser671Leu) c.1931C>T (p.Ser644Leu) c.1880C>T (p.Ser627Leu) | |
| 14 | g.33800170G>A | CA486092857 | NPAS3 | c.1863G>A (p.Ser621=) c.1872G>A (p.Ser624=) c.1763G>A c.793+2589G>A c.1767G>A (p.Ser589=) c.1824G>A (p.Ser608=) c.1773G>A (p.Ser591=) c.1878G>A (p.Ser626=) c.1785G>A (p.Ser595=) c.1884G>A (p.Ser628=) c.1914G>A (p.Ser638=) c.1905G>A (p.Ser635=) c.1875G>A (p.Ser625=) c.1818G>A (p.Ser606=) c.1764G>A (p.Ser588=) c.1557G>A (p.Ser519=) c.1971G>A (p.Ser657=) c.1965G>A (p.Ser655=) c.1962G>A (p.Ser654=) c.2022G>A (p.Ser674=) c.2013G>A (p.Ser671=) c.1932G>A (p.Ser644=) c.1881G>A (p.Ser627=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800170G>C | CA486092858 | NPAS3 | c.1863G>C (p.Ser621=) c.1872G>C (p.Ser624=) c.1763G>C c.793+2589G>C c.1767G>C (p.Ser589=) c.1824G>C (p.Ser608=) c.1773G>C (p.Ser591=) c.1878G>C (p.Ser626=) c.1785G>C (p.Ser595=) c.1884G>C (p.Ser628=) c.1914G>C (p.Ser638=) c.1905G>C (p.Ser635=) c.1875G>C (p.Ser625=) c.1818G>C (p.Ser606=) c.1764G>C (p.Ser588=) c.1557G>C (p.Ser519=) c.1971G>C (p.Ser657=) c.1965G>C (p.Ser655=) c.1962G>C (p.Ser654=) c.2022G>C (p.Ser674=) c.2013G>C (p.Ser671=) c.1932G>C (p.Ser644=) c.1881G>C (p.Ser627=) | |
| 14 | g.33800170G= | CA2128327005 | NPAS3 | c.1863G= (p.Ser621=) c.1872G= (p.Ser624=) c.1763G= c.793+2589G= c.1767G= (p.Ser589=) c.1824G= (p.Ser608=) c.1773G= (p.Ser591=) c.1878G= (p.Ser626=) c.1785G= (p.Ser595=) c.1884G= (p.Ser628=) c.1914G= (p.Ser638=) c.1905G= (p.Ser635=) c.1875G= (p.Ser625=) c.1818G= (p.Ser606=) c.1764G= (p.Ser588=) c.1557G= (p.Ser519=) c.1971G= (p.Ser657=) c.1965G= (p.Ser655=) c.1962G= (p.Ser654=) c.2022G= (p.Ser674=) c.2013G= (p.Ser671=) c.1932G= (p.Ser644=) c.1881G= (p.Ser627=) | |
| 14 | g.33800170G>T | CA486092859 | NPAS3 | c.1863G>T (p.Ser621=) c.1872G>T (p.Ser624=) c.1763G>T c.793+2589G>T c.1767G>T (p.Ser589=) c.1824G>T (p.Ser608=) c.1773G>T (p.Ser591=) c.1878G>T (p.Ser626=) c.1785G>T (p.Ser595=) c.1884G>T (p.Ser628=) c.1914G>T (p.Ser638=) c.1905G>T (p.Ser635=) c.1875G>T (p.Ser625=) c.1818G>T (p.Ser606=) c.1764G>T (p.Ser588=) c.1557G>T (p.Ser519=) c.1971G>T (p.Ser657=) c.1965G>T (p.Ser655=) c.1962G>T (p.Ser654=) c.2022G>T (p.Ser674=) c.2013G>T (p.Ser671=) c.1932G>T (p.Ser644=) c.1881G>T (p.Ser627=) | gnomAD v4 |
| 14 | g.33800171A>C | CA389412883 | NPAS3 | c.1864A>C (p.Ser622Arg) c.1873A>C (p.Ser625Arg) c.1764A>C c.793+2590A>C c.1768A>C (p.Ser590Arg) c.1825A>C (p.Ser609Arg) c.1774A>C (p.Ser592Arg) c.1879A>C (p.Ser627Arg) c.1786A>C (p.Ser596Arg) c.1885A>C (p.Ser629Arg) c.1915A>C (p.Ser639Arg) c.1906A>C (p.Ser636Arg) c.1876A>C (p.Ser626Arg) c.1819A>C (p.Ser607Arg) c.1765A>C (p.Ser589Arg) c.1558A>C (p.Ser520Arg) c.1972A>C (p.Ser658Arg) c.1966A>C (p.Ser656Arg) c.1963A>C (p.Ser655Arg) c.2023A>C (p.Ser675Arg) c.2014A>C (p.Ser672Arg) c.1933A>C (p.Ser645Arg) c.1882A>C (p.Ser628Arg) | |
| 14 | g.33800171A>G | CA389412885 | NPAS3 | c.1864A>G (p.Ser622Gly) c.1873A>G (p.Ser625Gly) c.1764A>G c.793+2590A>G c.1768A>G (p.Ser590Gly) c.1825A>G (p.Ser609Gly) c.1774A>G (p.Ser592Gly) c.1879A>G (p.Ser627Gly) c.1786A>G (p.Ser596Gly) c.1885A>G (p.Ser629Gly) c.1915A>G (p.Ser639Gly) c.1906A>G (p.Ser636Gly) c.1876A>G (p.Ser626Gly) c.1819A>G (p.Ser607Gly) c.1765A>G (p.Ser589Gly) c.1558A>G (p.Ser520Gly) c.1972A>G (p.Ser658Gly) c.1966A>G (p.Ser656Gly) c.1963A>G (p.Ser655Gly) c.2023A>G (p.Ser675Gly) c.2014A>G (p.Ser672Gly) c.1933A>G (p.Ser645Gly) c.1882A>G (p.Ser628Gly) | gnomAD v4 |
| 14 | g.33800171A>T | CA389412887 | NPAS3 | c.1864A>T (p.Ser622Cys) c.1873A>T (p.Ser625Cys) c.1764A>T c.793+2590A>T c.1768A>T (p.Ser590Cys) c.1825A>T (p.Ser609Cys) c.1774A>T (p.Ser592Cys) c.1879A>T (p.Ser627Cys) c.1786A>T (p.Ser596Cys) c.1885A>T (p.Ser629Cys) c.1915A>T (p.Ser639Cys) c.1906A>T (p.Ser636Cys) c.1876A>T (p.Ser626Cys) c.1819A>T (p.Ser607Cys) c.1765A>T (p.Ser589Cys) c.1558A>T (p.Ser520Cys) c.1972A>T (p.Ser658Cys) c.1966A>T (p.Ser656Cys) c.1963A>T (p.Ser655Cys) c.2023A>T (p.Ser675Cys) c.2014A>T (p.Ser672Cys) c.1933A>T (p.Ser645Cys) c.1882A>T (p.Ser628Cys) | |
| 14 | g.33800172G>A | CA389412892 | NPAS3 | c.1865G>A (p.Ser622Asn) c.1874G>A (p.Ser625Asn) c.1765G>A c.793+2591G>A c.1769G>A (p.Ser590Asn) c.1826G>A (p.Ser609Asn) c.1775G>A (p.Ser592Asn) c.1880G>A (p.Ser627Asn) c.1787G>A (p.Ser596Asn) c.1886G>A (p.Ser629Asn) c.1916G>A (p.Ser639Asn) c.1907G>A (p.Ser636Asn) c.1877G>A (p.Ser626Asn) c.1820G>A (p.Ser607Asn) c.1766G>A (p.Ser589Asn) c.1559G>A (p.Ser520Asn) c.1973G>A (p.Ser658Asn) c.1967G>A (p.Ser656Asn) c.1964G>A (p.Ser655Asn) c.2024G>A (p.Ser675Asn) c.2015G>A (p.Ser672Asn) c.1934G>A (p.Ser645Asn) c.1883G>A (p.Ser628Asn) | gnomAD v4 |
| 14 | g.33800172G>C | CA389412895 | NPAS3 | c.1865G>C (p.Ser622Thr) c.1874G>C (p.Ser625Thr) c.1765G>C c.793+2591G>C c.1769G>C (p.Ser590Thr) c.1826G>C (p.Ser609Thr) c.1775G>C (p.Ser592Thr) c.1880G>C (p.Ser627Thr) c.1787G>C (p.Ser596Thr) c.1886G>C (p.Ser629Thr) c.1916G>C (p.Ser639Thr) c.1907G>C (p.Ser636Thr) c.1877G>C (p.Ser626Thr) c.1820G>C (p.Ser607Thr) c.1766G>C (p.Ser589Thr) c.1559G>C (p.Ser520Thr) c.1973G>C (p.Ser658Thr) c.1967G>C (p.Ser656Thr) c.1964G>C (p.Ser655Thr) c.2024G>C (p.Ser675Thr) c.2015G>C (p.Ser672Thr) c.1934G>C (p.Ser645Thr) c.1883G>C (p.Ser628Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800172G= | CA2128327008 | NPAS3 | c.1865G= (p.Ser622=) c.1874G= (p.Ser625=) c.1765G= c.793+2591G= c.1769G= (p.Ser590=) c.1826G= (p.Ser609=) c.1775G= (p.Ser592=) c.1880G= (p.Ser627=) c.1787G= (p.Ser596=) c.1886G= (p.Ser629=) c.1916G= (p.Ser639=) c.1907G= (p.Ser636=) c.1877G= (p.Ser626=) c.1820G= (p.Ser607=) c.1766G= (p.Ser589=) c.1559G= (p.Ser520=) c.1973G= (p.Ser658=) c.1967G= (p.Ser656=) c.1964G= (p.Ser655=) c.2024G= (p.Ser675=) c.2015G= (p.Ser672=) c.1934G= (p.Ser645=) c.1883G= (p.Ser628=) | |
| 14 | g.33800172G>T | CA389412891 | NPAS3 | c.1865G>T (p.Ser622Ile) c.1874G>T (p.Ser625Ile) c.1765G>T c.793+2591G>T c.1769G>T (p.Ser590Ile) c.1826G>T (p.Ser609Ile) c.1775G>T (p.Ser592Ile) c.1880G>T (p.Ser627Ile) c.1787G>T (p.Ser596Ile) c.1886G>T (p.Ser629Ile) c.1916G>T (p.Ser639Ile) c.1907G>T (p.Ser636Ile) c.1877G>T (p.Ser626Ile) c.1820G>T (p.Ser607Ile) c.1766G>T (p.Ser589Ile) c.1559G>T (p.Ser520Ile) c.1973G>T (p.Ser658Ile) c.1967G>T (p.Ser656Ile) c.1964G>T (p.Ser655Ile) c.2024G>T (p.Ser675Ile) c.2015G>T (p.Ser672Ile) c.1934G>T (p.Ser645Ile) c.1883G>T (p.Ser628Ile) | |
| 14 | g.33800173C>A | CA389412900 | NPAS3 | c.1866C>A (p.Ser622Arg) c.1875C>A (p.Ser625Arg) c.1766C>A c.793+2592C>A c.1770C>A (p.Ser590Arg) c.1827C>A (p.Ser609Arg) c.1776C>A (p.Ser592Arg) c.1881C>A (p.Ser627Arg) c.1788C>A (p.Ser596Arg) c.1887C>A (p.Ser629Arg) c.1917C>A (p.Ser639Arg) c.1908C>A (p.Ser636Arg) c.1878C>A (p.Ser626Arg) c.1821C>A (p.Ser607Arg) c.1767C>A (p.Ser589Arg) c.1560C>A (p.Ser520Arg) c.1974C>A (p.Ser658Arg) c.1968C>A (p.Ser656Arg) c.1965C>A (p.Ser655Arg) c.2025C>A (p.Ser675Arg) c.2016C>A (p.Ser672Arg) c.1935C>A (p.Ser645Arg) c.1884C>A (p.Ser628Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800173C= | CA2128327013 | NPAS3 | c.1866C= (p.Ser622=) c.1875C= (p.Ser625=) c.1766C= c.793+2592C= c.1770C= (p.Ser590=) c.1827C= (p.Ser609=) c.1776C= (p.Ser592=) c.1881C= (p.Ser627=) c.1788C= (p.Ser596=) c.1887C= (p.Ser629=) c.1917C= (p.Ser639=) c.1908C= (p.Ser636=) c.1878C= (p.Ser626=) c.1821C= (p.Ser607=) c.1767C= (p.Ser589=) c.1560C= (p.Ser520=) c.1974C= (p.Ser658=) c.1968C= (p.Ser656=) c.1965C= (p.Ser655=) c.2025C= (p.Ser675=) c.2016C= (p.Ser672=) c.1935C= (p.Ser645=) c.1884C= (p.Ser628=) | |
| 14 | g.33800173C>G | CA389412898 | NPAS3 | c.1866C>G (p.Ser622Arg) c.1875C>G (p.Ser625Arg) c.1766C>G c.793+2592C>G c.1770C>G (p.Ser590Arg) c.1827C>G (p.Ser609Arg) c.1776C>G (p.Ser592Arg) c.1881C>G (p.Ser627Arg) c.1788C>G (p.Ser596Arg) c.1887C>G (p.Ser629Arg) c.1917C>G (p.Ser639Arg) c.1908C>G (p.Ser636Arg) c.1878C>G (p.Ser626Arg) c.1821C>G (p.Ser607Arg) c.1767C>G (p.Ser589Arg) c.1560C>G (p.Ser520Arg) c.1974C>G (p.Ser658Arg) c.1968C>G (p.Ser656Arg) c.1965C>G (p.Ser655Arg) c.2025C>G (p.Ser675Arg) c.2016C>G (p.Ser672Arg) c.1935C>G (p.Ser645Arg) c.1884C>G (p.Ser628Arg) | |
| 14 | g.33800173C>T | CA486092861 | NPAS3 | c.1866C>T (p.Ser622=) c.1875C>T (p.Ser625=) c.1766C>T c.793+2592C>T c.1770C>T (p.Ser590=) c.1827C>T (p.Ser609=) c.1776C>T (p.Ser592=) c.1881C>T (p.Ser627=) c.1788C>T (p.Ser596=) c.1887C>T (p.Ser629=) c.1917C>T (p.Ser639=) c.1908C>T (p.Ser636=) c.1878C>T (p.Ser626=) c.1821C>T (p.Ser607=) c.1767C>T (p.Ser589=) c.1560C>T (p.Ser520=) c.1974C>T (p.Ser658=) c.1968C>T (p.Ser656=) c.1965C>T (p.Ser655=) c.2025C>T (p.Ser675=) c.2016C>T (p.Ser672=) c.1935C>T (p.Ser645=) c.1884C>T (p.Ser628=) | gnomAD v4 |
| 14 | g.33800174C>A | CA389412904 | NPAS3 | c.1867C>A (p.Pro623Thr) c.1876C>A (p.Pro626Thr) c.1767C>A c.793+2593C>A c.1771C>A (p.Pro591Thr) c.1828C>A (p.Pro610Thr) c.1777C>A (p.Pro593Thr) c.1882C>A (p.Pro628Thr) c.1789C>A (p.Pro597Thr) c.1888C>A (p.Pro630Thr) c.1918C>A (p.Pro640Thr) c.1909C>A (p.Pro637Thr) c.1879C>A (p.Pro627Thr) c.1822C>A (p.Pro608Thr) c.1768C>A (p.Pro590Thr) c.1561C>A (p.Pro521Thr) c.1975C>A (p.Pro659Thr) c.1969C>A (p.Pro657Thr) c.1966C>A (p.Pro656Thr) c.2026C>A (p.Pro676Thr) c.2017C>A (p.Pro673Thr) c.1936C>A (p.Pro646Thr) c.1885C>A (p.Pro629Thr) | gnomAD v4 |
| 14 | g.33800174C>G | CA389412902 | NPAS3 | c.1867C>G (p.Pro623Ala) c.1876C>G (p.Pro626Ala) c.1767C>G c.793+2593C>G c.1771C>G (p.Pro591Ala) c.1828C>G (p.Pro610Ala) c.1777C>G (p.Pro593Ala) c.1882C>G (p.Pro628Ala) c.1789C>G (p.Pro597Ala) c.1888C>G (p.Pro630Ala) c.1918C>G (p.Pro640Ala) c.1909C>G (p.Pro637Ala) c.1879C>G (p.Pro627Ala) c.1822C>G (p.Pro608Ala) c.1768C>G (p.Pro590Ala) c.1561C>G (p.Pro521Ala) c.1975C>G (p.Pro659Ala) c.1969C>G (p.Pro657Ala) c.1966C>G (p.Pro656Ala) c.2026C>G (p.Pro676Ala) c.2017C>G (p.Pro673Ala) c.1936C>G (p.Pro646Ala) c.1885C>G (p.Pro629Ala) | |
| 14 | g.33800174C>T | CA389412906 | NPAS3 | c.1867C>T (p.Pro623Ser) c.1876C>T (p.Pro626Ser) c.1767C>T c.793+2593C>T c.1771C>T (p.Pro591Ser) c.1828C>T (p.Pro610Ser) c.1777C>T (p.Pro593Ser) c.1882C>T (p.Pro628Ser) c.1789C>T (p.Pro597Ser) c.1888C>T (p.Pro630Ser) c.1918C>T (p.Pro640Ser) c.1909C>T (p.Pro637Ser) c.1879C>T (p.Pro627Ser) c.1822C>T (p.Pro608Ser) c.1768C>T (p.Pro590Ser) c.1561C>T (p.Pro521Ser) c.1975C>T (p.Pro659Ser) c.1969C>T (p.Pro657Ser) c.1966C>T (p.Pro656Ser) c.2026C>T (p.Pro676Ser) c.2017C>T (p.Pro673Ser) c.1936C>T (p.Pro646Ser) c.1885C>T (p.Pro629Ser) | gnomAD v4 |
| 14 | g.33800175C>A | CA389412908 | NPAS3 | c.1868C>A (p.Pro623Gln) c.1877C>A (p.Pro626Gln) c.1768C>A c.793+2594C>A c.1772C>A (p.Pro591Gln) c.1829C>A (p.Pro610Gln) c.1778C>A (p.Pro593Gln) c.1883C>A (p.Pro628Gln) c.1790C>A (p.Pro597Gln) c.1889C>A (p.Pro630Gln) c.1919C>A (p.Pro640Gln) c.1910C>A (p.Pro637Gln) c.1880C>A (p.Pro627Gln) c.1823C>A (p.Pro608Gln) c.1769C>A (p.Pro590Gln) c.1562C>A (p.Pro521Gln) c.1976C>A (p.Pro659Gln) c.1970C>A (p.Pro657Gln) c.1967C>A (p.Pro656Gln) c.2027C>A (p.Pro676Gln) c.2018C>A (p.Pro673Gln) c.1937C>A (p.Pro646Gln) c.1886C>A (p.Pro629Gln) | |
| 14 | g.33800175C= | CA2128327015 | NPAS3 | c.1868C= (p.Pro623=) c.1877C= (p.Pro626=) c.1768C= c.793+2594C= c.1772C= (p.Pro591=) c.1829C= (p.Pro610=) c.1778C= (p.Pro593=) c.1883C= (p.Pro628=) c.1790C= (p.Pro597=) c.1889C= (p.Pro630=) c.1919C= (p.Pro640=) c.1910C= (p.Pro637=) c.1880C= (p.Pro627=) c.1823C= (p.Pro608=) c.1769C= (p.Pro590=) c.1562C= (p.Pro521=) c.1976C= (p.Pro659=) c.1970C= (p.Pro657=) c.1967C= (p.Pro656=) c.2027C= (p.Pro676=) c.2018C= (p.Pro673=) c.1937C= (p.Pro646=) c.1886C= (p.Pro629=) | |
| 14 | g.33800175C>G | CA389412910 | NPAS3 | c.1868C>G (p.Pro623Arg) c.1877C>G (p.Pro626Arg) c.1768C>G c.793+2594C>G c.1772C>G (p.Pro591Arg) c.1829C>G (p.Pro610Arg) c.1778C>G (p.Pro593Arg) c.1883C>G (p.Pro628Arg) c.1790C>G (p.Pro597Arg) c.1889C>G (p.Pro630Arg) c.1919C>G (p.Pro640Arg) c.1910C>G (p.Pro637Arg) c.1880C>G (p.Pro627Arg) c.1823C>G (p.Pro608Arg) c.1769C>G (p.Pro590Arg) c.1562C>G (p.Pro521Arg) c.1976C>G (p.Pro659Arg) c.1970C>G (p.Pro657Arg) c.1967C>G (p.Pro656Arg) c.2027C>G (p.Pro676Arg) c.2018C>G (p.Pro673Arg) c.1937C>G (p.Pro646Arg) c.1886C>G (p.Pro629Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800175C>T | CA389412912 | NPAS3 | c.1868C>T (p.Pro623Leu) c.1877C>T (p.Pro626Leu) c.1768C>T c.793+2594C>T c.1772C>T (p.Pro591Leu) c.1829C>T (p.Pro610Leu) c.1778C>T (p.Pro593Leu) c.1883C>T (p.Pro628Leu) c.1790C>T (p.Pro597Leu) c.1889C>T (p.Pro630Leu) c.1919C>T (p.Pro640Leu) c.1910C>T (p.Pro637Leu) c.1880C>T (p.Pro627Leu) c.1823C>T (p.Pro608Leu) c.1769C>T (p.Pro590Leu) c.1562C>T (p.Pro521Leu) c.1976C>T (p.Pro659Leu) c.1970C>T (p.Pro657Leu) c.1967C>T (p.Pro656Leu) c.2027C>T (p.Pro676Leu) c.2018C>T (p.Pro673Leu) c.1937C>T (p.Pro646Leu) c.1886C>T (p.Pro629Leu) | |
| 14 | g.33800176A= | CA2128327016 | NPAS3 | c.1869A= (p.Pro623=) c.1878A= (p.Pro626=) c.1769A= c.793+2595A= c.1773A= (p.Pro591=) c.1830A= (p.Pro610=) c.1779A= (p.Pro593=) c.1884A= (p.Pro628=) c.1791A= (p.Pro597=) c.1890A= (p.Pro630=) c.1920A= (p.Pro640=) c.1911A= (p.Pro637=) c.1881A= (p.Pro627=) c.1824A= (p.Pro608=) c.1770A= (p.Pro590=) c.1563A= (p.Pro521=) c.1977A= (p.Pro659=) c.1971A= (p.Pro657=) c.1968A= (p.Pro656=) c.2028A= (p.Pro676=) c.2019A= (p.Pro673=) c.1938A= (p.Pro646=) c.1887A= (p.Pro629=) | |
| 14 | g.33800176A>C | CA486092862 | NPAS3 | c.1869A>C (p.Pro623=) c.1878A>C (p.Pro626=) c.1769A>C c.793+2595A>C c.1773A>C (p.Pro591=) c.1830A>C (p.Pro610=) c.1779A>C (p.Pro593=) c.1884A>C (p.Pro628=) c.1791A>C (p.Pro597=) c.1890A>C (p.Pro630=) c.1920A>C (p.Pro640=) c.1911A>C (p.Pro637=) c.1881A>C (p.Pro627=) c.1824A>C (p.Pro608=) c.1770A>C (p.Pro590=) c.1563A>C (p.Pro521=) c.1977A>C (p.Pro659=) c.1971A>C (p.Pro657=) c.1968A>C (p.Pro656=) c.2028A>C (p.Pro676=) c.2019A>C (p.Pro673=) c.1938A>C (p.Pro646=) c.1887A>C (p.Pro629=) | dbSNP |
| 14 | g.33800176A>G | CA486092864 | NPAS3 | c.1869A>G (p.Pro623=) c.1878A>G (p.Pro626=) c.1769A>G c.793+2595A>G c.1773A>G (p.Pro591=) c.1830A>G (p.Pro610=) c.1779A>G (p.Pro593=) c.1884A>G (p.Pro628=) c.1791A>G (p.Pro597=) c.1890A>G (p.Pro630=) c.1920A>G (p.Pro640=) c.1911A>G (p.Pro637=) c.1881A>G (p.Pro627=) c.1824A>G (p.Pro608=) c.1770A>G (p.Pro590=) c.1563A>G (p.Pro521=) c.1977A>G (p.Pro659=) c.1971A>G (p.Pro657=) c.1968A>G (p.Pro656=) c.2028A>G (p.Pro676=) c.2019A>G (p.Pro673=) c.1938A>G (p.Pro646=) c.1887A>G (p.Pro629=) | |
| 14 | g.33800176A>T | CA486092863 | NPAS3 | c.1869A>T (p.Pro623=) c.1878A>T (p.Pro626=) c.1769A>T c.793+2595A>T c.1773A>T (p.Pro591=) c.1830A>T (p.Pro610=) c.1779A>T (p.Pro593=) c.1884A>T (p.Pro628=) c.1791A>T (p.Pro597=) c.1890A>T (p.Pro630=) c.1920A>T (p.Pro640=) c.1911A>T (p.Pro637=) c.1881A>T (p.Pro627=) c.1824A>T (p.Pro608=) c.1770A>T (p.Pro590=) c.1563A>T (p.Pro521=) c.1977A>T (p.Pro659=) c.1971A>T (p.Pro657=) c.1968A>T (p.Pro656=) c.2028A>T (p.Pro676=) c.2019A>T (p.Pro673=) c.1938A>T (p.Pro646=) c.1887A>T (p.Pro629=) | |
| 14 | g.33800177G>A | CA389412913 | NPAS3 | c.1870G>A (p.Gly624Ser) c.1879G>A (p.Gly627Ser) c.1770G>A c.793+2596G>A c.1774G>A (p.Gly592Ser) c.1831G>A (p.Gly611Ser) c.1780G>A (p.Gly594Ser) c.1885G>A (p.Gly629Ser) c.1792G>A (p.Gly598Ser) c.1891G>A (p.Gly631Ser) c.1921G>A (p.Gly641Ser) c.1912G>A (p.Gly638Ser) c.1882G>A (p.Gly628Ser) c.1825G>A (p.Gly609Ser) c.1771G>A (p.Gly591Ser) c.1564G>A (p.Gly522Ser) c.1978G>A (p.Gly660Ser) c.1972G>A (p.Gly658Ser) c.1969G>A (p.Gly657Ser) c.2029G>A (p.Gly677Ser) c.2020G>A (p.Gly674Ser) c.1939G>A (p.Gly647Ser) c.1888G>A (p.Gly630Ser) | |
| 14 | g.33800177G>C | CA389412914 | NPAS3 | c.1870G>C (p.Gly624Arg) c.1879G>C (p.Gly627Arg) c.1770G>C c.793+2596G>C c.1774G>C (p.Gly592Arg) c.1831G>C (p.Gly611Arg) c.1780G>C (p.Gly594Arg) c.1885G>C (p.Gly629Arg) c.1792G>C (p.Gly598Arg) c.1891G>C (p.Gly631Arg) c.1921G>C (p.Gly641Arg) c.1912G>C (p.Gly638Arg) c.1882G>C (p.Gly628Arg) c.1825G>C (p.Gly609Arg) c.1771G>C (p.Gly591Arg) c.1564G>C (p.Gly522Arg) c.1978G>C (p.Gly660Arg) c.1972G>C (p.Gly658Arg) c.1969G>C (p.Gly657Arg) c.2029G>C (p.Gly677Arg) c.2020G>C (p.Gly674Arg) c.1939G>C (p.Gly647Arg) c.1888G>C (p.Gly630Arg) | |
| 14 | g.33800177G>T | CA389412916 | NPAS3 | c.1870G>T (p.Gly624Cys) c.1879G>T (p.Gly627Cys) c.1770G>T c.793+2596G>T c.1774G>T (p.Gly592Cys) c.1831G>T (p.Gly611Cys) c.1780G>T (p.Gly594Cys) c.1885G>T (p.Gly629Cys) c.1792G>T (p.Gly598Cys) c.1891G>T (p.Gly631Cys) c.1921G>T (p.Gly641Cys) c.1912G>T (p.Gly638Cys) c.1882G>T (p.Gly628Cys) c.1825G>T (p.Gly609Cys) c.1771G>T (p.Gly591Cys) c.1564G>T (p.Gly522Cys) c.1978G>T (p.Gly660Cys) c.1972G>T (p.Gly658Cys) c.1969G>T (p.Gly657Cys) c.2029G>T (p.Gly677Cys) c.2020G>T (p.Gly674Cys) c.1939G>T (p.Gly647Cys) c.1888G>T (p.Gly630Cys) | |
| 14 | g.33800178G>A | CA389412917 | NPAS3 | c.1871G>A (p.Gly624Asp) c.1880G>A (p.Gly627Asp) c.1771G>A c.793+2597G>A c.1775G>A (p.Gly592Asp) c.1832G>A (p.Gly611Asp) c.1781G>A (p.Gly594Asp) c.1886G>A (p.Gly629Asp) c.1793G>A (p.Gly598Asp) c.1892G>A (p.Gly631Asp) c.1922G>A (p.Gly641Asp) c.1913G>A (p.Gly638Asp) c.1883G>A (p.Gly628Asp) c.1826G>A (p.Gly609Asp) c.1772G>A (p.Gly591Asp) c.1565G>A (p.Gly522Asp) c.1979G>A (p.Gly660Asp) c.1973G>A (p.Gly658Asp) c.1970G>A (p.Gly657Asp) c.2030G>A (p.Gly677Asp) c.2021G>A (p.Gly674Asp) c.1940G>A (p.Gly647Asp) c.1889G>A (p.Gly630Asp) | gnomAD v4 |
| 14 | g.33800178G>C | CA389412918 | NPAS3 | c.1871G>C (p.Gly624Ala) c.1880G>C (p.Gly627Ala) c.1771G>C c.793+2597G>C c.1775G>C (p.Gly592Ala) c.1832G>C (p.Gly611Ala) c.1781G>C (p.Gly594Ala) c.1886G>C (p.Gly629Ala) c.1793G>C (p.Gly598Ala) c.1892G>C (p.Gly631Ala) c.1922G>C (p.Gly641Ala) c.1913G>C (p.Gly638Ala) c.1883G>C (p.Gly628Ala) c.1826G>C (p.Gly609Ala) c.1772G>C (p.Gly591Ala) c.1565G>C (p.Gly522Ala) c.1979G>C (p.Gly660Ala) c.1973G>C (p.Gly658Ala) c.1970G>C (p.Gly657Ala) c.2030G>C (p.Gly677Ala) c.2021G>C (p.Gly674Ala) c.1940G>C (p.Gly647Ala) c.1889G>C (p.Gly630Ala) | |
| 14 | g.33800178G>T | CA389412920 | NPAS3 | c.1871G>T (p.Gly624Val) c.1880G>T (p.Gly627Val) c.1771G>T c.793+2597G>T c.1775G>T (p.Gly592Val) c.1832G>T (p.Gly611Val) c.1781G>T (p.Gly594Val) c.1886G>T (p.Gly629Val) c.1793G>T (p.Gly598Val) c.1892G>T (p.Gly631Val) c.1922G>T (p.Gly641Val) c.1913G>T (p.Gly638Val) c.1883G>T (p.Gly628Val) c.1826G>T (p.Gly609Val) c.1772G>T (p.Gly591Val) c.1565G>T (p.Gly522Val) c.1979G>T (p.Gly660Val) c.1973G>T (p.Gly658Val) c.1970G>T (p.Gly657Val) c.2030G>T (p.Gly677Val) c.2021G>T (p.Gly674Val) c.1940G>T (p.Gly647Val) c.1889G>T (p.Gly630Val) | |
| 14 | g.33800179C>A | CA486092865 | NPAS3 | c.1872C>A (p.Gly624=) c.1881C>A (p.Gly627=) c.1772C>A c.793+2598C>A c.1776C>A (p.Gly592=) c.1833C>A (p.Gly611=) c.1782C>A (p.Gly594=) c.1887C>A (p.Gly629=) c.1794C>A (p.Gly598=) c.1893C>A (p.Gly631=) c.1923C>A (p.Gly641=) c.1914C>A (p.Gly638=) c.1884C>A (p.Gly628=) c.1827C>A (p.Gly609=) c.1773C>A (p.Gly591=) c.1566C>A (p.Gly522=) c.1980C>A (p.Gly660=) c.1974C>A (p.Gly658=) c.1971C>A (p.Gly657=) c.2031C>A (p.Gly677=) c.2022C>A (p.Gly674=) c.1941C>A (p.Gly647=) c.1890C>A (p.Gly630=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800179C= | CA2128327020 | NPAS3 | c.1872C= (p.Gly624=) c.1881C= (p.Gly627=) c.1772C= c.793+2598C= c.1776C= (p.Gly592=) c.1833C= (p.Gly611=) c.1782C= (p.Gly594=) c.1887C= (p.Gly629=) c.1794C= (p.Gly598=) c.1893C= (p.Gly631=) c.1923C= (p.Gly641=) c.1914C= (p.Gly638=) c.1884C= (p.Gly628=) c.1827C= (p.Gly609=) c.1773C= (p.Gly591=) c.1566C= (p.Gly522=) c.1980C= (p.Gly660=) c.1974C= (p.Gly658=) c.1971C= (p.Gly657=) c.2031C= (p.Gly677=) c.2022C= (p.Gly674=) c.1941C= (p.Gly647=) c.1890C= (p.Gly630=) | |
| 14 | g.33800179C>G | CA486092866 | NPAS3 | c.1872C>G (p.Gly624=) c.1881C>G (p.Gly627=) c.1772C>G c.793+2598C>G c.1776C>G (p.Gly592=) c.1833C>G (p.Gly611=) c.1782C>G (p.Gly594=) c.1887C>G (p.Gly629=) c.1794C>G (p.Gly598=) c.1893C>G (p.Gly631=) c.1923C>G (p.Gly641=) c.1914C>G (p.Gly638=) c.1884C>G (p.Gly628=) c.1827C>G (p.Gly609=) c.1773C>G (p.Gly591=) c.1566C>G (p.Gly522=) c.1980C>G (p.Gly660=) c.1974C>G (p.Gly658=) c.1971C>G (p.Gly657=) c.2031C>G (p.Gly677=) c.2022C>G (p.Gly674=) c.1941C>G (p.Gly647=) c.1890C>G (p.Gly630=) | |
| 14 | g.33800179C>T | CA486092868 | NPAS3 | c.1872C>T (p.Gly624=) c.1881C>T (p.Gly627=) c.1772C>T c.793+2598C>T c.1776C>T (p.Gly592=) c.1833C>T (p.Gly611=) c.1782C>T (p.Gly594=) c.1887C>T (p.Gly629=) c.1794C>T (p.Gly598=) c.1893C>T (p.Gly631=) c.1923C>T (p.Gly641=) c.1914C>T (p.Gly638=) c.1884C>T (p.Gly628=) c.1827C>T (p.Gly609=) c.1773C>T (p.Gly591=) c.1566C>T (p.Gly522=) c.1980C>T (p.Gly660=) c.1974C>T (p.Gly658=) c.1971C>T (p.Gly657=) c.2031C>T (p.Gly677=) c.2022C>T (p.Gly674=) c.1941C>T (p.Gly647=) c.1890C>T (p.Gly630=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800180G>A | CA389412922 | NPAS3 | c.1873G>A (p.Gly625Ser) c.1882G>A (p.Gly628Ser) c.1773G>A c.793+2599G>A c.1777G>A (p.Gly593Ser) c.1834G>A (p.Gly612Ser) c.1783G>A (p.Gly595Ser) c.1888G>A (p.Gly630Ser) c.1795G>A (p.Gly599Ser) c.1894G>A (p.Gly632Ser) c.1924G>A (p.Gly642Ser) c.1915G>A (p.Gly639Ser) c.1885G>A (p.Gly629Ser) c.1828G>A (p.Gly610Ser) c.1774G>A (p.Gly592Ser) c.1567G>A (p.Gly523Ser) c.1981G>A (p.Gly661Ser) c.1975G>A (p.Gly659Ser) c.1972G>A (p.Gly658Ser) c.2032G>A (p.Gly678Ser) c.2023G>A (p.Gly675Ser) c.1942G>A (p.Gly648Ser) c.1891G>A (p.Gly631Ser) | |
| 14 | g.33800180G>C | CA389412923 | NPAS3 | c.1873G>C (p.Gly625Arg) c.1882G>C (p.Gly628Arg) c.1773G>C c.793+2599G>C c.1777G>C (p.Gly593Arg) c.1834G>C (p.Gly612Arg) c.1783G>C (p.Gly595Arg) c.1888G>C (p.Gly630Arg) c.1795G>C (p.Gly599Arg) c.1894G>C (p.Gly632Arg) c.1924G>C (p.Gly642Arg) c.1915G>C (p.Gly639Arg) c.1885G>C (p.Gly629Arg) c.1828G>C (p.Gly610Arg) c.1774G>C (p.Gly592Arg) c.1567G>C (p.Gly523Arg) c.1981G>C (p.Gly661Arg) c.1975G>C (p.Gly659Arg) c.1972G>C (p.Gly658Arg) c.2032G>C (p.Gly678Arg) c.2023G>C (p.Gly675Arg) c.1942G>C (p.Gly648Arg) c.1891G>C (p.Gly631Arg) | |
| 14 | g.33800180G>T | CA389412924 | NPAS3 | c.1873G>T (p.Gly625Cys) c.1882G>T (p.Gly628Cys) c.1773G>T c.793+2599G>T c.1777G>T (p.Gly593Cys) c.1834G>T (p.Gly612Cys) c.1783G>T (p.Gly595Cys) c.1888G>T (p.Gly630Cys) c.1795G>T (p.Gly599Cys) c.1894G>T (p.Gly632Cys) c.1924G>T (p.Gly642Cys) c.1915G>T (p.Gly639Cys) c.1885G>T (p.Gly629Cys) c.1828G>T (p.Gly610Cys) c.1774G>T (p.Gly592Cys) c.1567G>T (p.Gly523Cys) c.1981G>T (p.Gly661Cys) c.1975G>T (p.Gly659Cys) c.1972G>T (p.Gly658Cys) c.2032G>T (p.Gly678Cys) c.2023G>T (p.Gly675Cys) c.1942G>T (p.Gly648Cys) c.1891G>T (p.Gly631Cys) | |
| 14 | g.33800181G>A | CA389412931 | NPAS3 | c.1874G>A (p.Gly625Asp) c.1883G>A (p.Gly628Asp) c.1774G>A c.793+2600G>A c.1778G>A (p.Gly593Asp) c.1835G>A (p.Gly612Asp) c.1784G>A (p.Gly595Asp) c.1889G>A (p.Gly630Asp) c.1796G>A (p.Gly599Asp) c.1895G>A (p.Gly632Asp) c.1925G>A (p.Gly642Asp) c.1916G>A (p.Gly639Asp) c.1886G>A (p.Gly629Asp) c.1829G>A (p.Gly610Asp) c.1775G>A (p.Gly592Asp) c.1568G>A (p.Gly523Asp) c.1982G>A (p.Gly661Asp) c.1976G>A (p.Gly659Asp) c.1973G>A (p.Gly658Asp) c.2033G>A (p.Gly678Asp) c.2024G>A (p.Gly675Asp) c.1943G>A (p.Gly648Asp) c.1892G>A (p.Gly631Asp) | |
| 14 | g.33800181G>C | CA389412927 | NPAS3 | c.1874G>C (p.Gly625Ala) c.1883G>C (p.Gly628Ala) c.1774G>C c.793+2600G>C c.1778G>C (p.Gly593Ala) c.1835G>C (p.Gly612Ala) c.1784G>C (p.Gly595Ala) c.1889G>C (p.Gly630Ala) c.1796G>C (p.Gly599Ala) c.1895G>C (p.Gly632Ala) c.1925G>C (p.Gly642Ala) c.1916G>C (p.Gly639Ala) c.1886G>C (p.Gly629Ala) c.1829G>C (p.Gly610Ala) c.1775G>C (p.Gly592Ala) c.1568G>C (p.Gly523Ala) c.1982G>C (p.Gly661Ala) c.1976G>C (p.Gly659Ala) c.1973G>C (p.Gly658Ala) c.2033G>C (p.Gly678Ala) c.2024G>C (p.Gly675Ala) c.1943G>C (p.Gly648Ala) c.1892G>C (p.Gly631Ala) | |
| 14 | g.33800181G>T | CA389412929 | NPAS3 | c.1874G>T (p.Gly625Val) c.1883G>T (p.Gly628Val) c.1774G>T c.793+2600G>T c.1778G>T (p.Gly593Val) c.1835G>T (p.Gly612Val) c.1784G>T (p.Gly595Val) c.1889G>T (p.Gly630Val) c.1796G>T (p.Gly599Val) c.1895G>T (p.Gly632Val) c.1925G>T (p.Gly642Val) c.1916G>T (p.Gly639Val) c.1886G>T (p.Gly629Val) c.1829G>T (p.Gly610Val) c.1775G>T (p.Gly592Val) c.1568G>T (p.Gly523Val) c.1982G>T (p.Gly661Val) c.1976G>T (p.Gly659Val) c.1973G>T (p.Gly658Val) c.2033G>T (p.Gly678Val) c.2024G>T (p.Gly675Val) c.1943G>T (p.Gly648Val) c.1892G>T (p.Gly631Val) | gnomAD v4 |
| 14 | g.33800182C>A | CA486092869 | NPAS3 | c.1875C>A (p.Gly625=) c.1884C>A (p.Gly628=) c.1775C>A c.793+2601C>A c.1779C>A (p.Gly593=) c.1836C>A (p.Gly612=) c.1785C>A (p.Gly595=) c.1890C>A (p.Gly630=) c.1797C>A (p.Gly599=) c.1896C>A (p.Gly632=) c.1926C>A (p.Gly642=) c.1917C>A (p.Gly639=) c.1887C>A (p.Gly629=) c.1830C>A (p.Gly610=) c.1776C>A (p.Gly592=) c.1569C>A (p.Gly523=) c.1983C>A (p.Gly661=) c.1977C>A (p.Gly659=) c.1974C>A (p.Gly658=) c.2034C>A (p.Gly678=) c.2025C>A (p.Gly675=) c.1944C>A (p.Gly648=) c.1893C>A (p.Gly631=) | |
| 14 | g.33800182C>G | CA486092872 | NPAS3 | c.1875C>G (p.Gly625=) c.1884C>G (p.Gly628=) c.1775C>G c.793+2601C>G c.1779C>G (p.Gly593=) c.1836C>G (p.Gly612=) c.1785C>G (p.Gly595=) c.1890C>G (p.Gly630=) c.1797C>G (p.Gly599=) c.1896C>G (p.Gly632=) c.1926C>G (p.Gly642=) c.1917C>G (p.Gly639=) c.1887C>G (p.Gly629=) c.1830C>G (p.Gly610=) c.1776C>G (p.Gly592=) c.1569C>G (p.Gly523=) c.1983C>G (p.Gly661=) c.1977C>G (p.Gly659=) c.1974C>G (p.Gly658=) c.2034C>G (p.Gly678=) c.2025C>G (p.Gly675=) c.1944C>G (p.Gly648=) c.1893C>G (p.Gly631=) | |
| 14 | g.33800182C>T | CA486092870 | NPAS3 | c.1875C>T (p.Gly625=) c.1884C>T (p.Gly628=) c.1775C>T c.793+2601C>T c.1779C>T (p.Gly593=) c.1836C>T (p.Gly612=) c.1785C>T (p.Gly595=) c.1890C>T (p.Gly630=) c.1797C>T (p.Gly599=) c.1896C>T (p.Gly632=) c.1926C>T (p.Gly642=) c.1917C>T (p.Gly639=) c.1887C>T (p.Gly629=) c.1830C>T (p.Gly610=) c.1776C>T (p.Gly592=) c.1569C>T (p.Gly523=) c.1983C>T (p.Gly661=) c.1977C>T (p.Gly659=) c.1974C>T (p.Gly658=) c.2034C>T (p.Gly678=) c.2025C>T (p.Gly675=) c.1944C>T (p.Gly648=) c.1893C>T (p.Gly631=) | |
| 14 | g.33800183C>A | CA389412933 | NPAS3 | c.1876C>A (p.Leu626Met) c.1885C>A (p.Leu629Met) c.1776C>A c.793+2602C>A c.1780C>A (p.Leu594Met) c.1837C>A (p.Leu613Met) c.1786C>A (p.Leu596Met) c.1891C>A (p.Leu631Met) c.1798C>A (p.Leu600Met) c.1897C>A (p.Leu633Met) c.1927C>A (p.Leu643Met) c.1918C>A (p.Leu640Met) c.1888C>A (p.Leu630Met) c.1831C>A (p.Leu611Met) c.1777C>A (p.Leu593Met) c.1570C>A (p.Leu524Met) c.1984C>A (p.Leu662Met) c.1978C>A (p.Leu660Met) c.1975C>A (p.Leu659Met) c.2035C>A (p.Leu679Met) c.2026C>A (p.Leu676Met) c.1945C>A (p.Leu649Met) c.1894C>A (p.Leu632Met) | |
| 14 | g.33800183C= | CA2128327025 | NPAS3 | c.1876C= (p.Leu626=) c.1885C= (p.Leu629=) c.1776C= c.793+2602C= c.1780C= (p.Leu594=) c.1837C= (p.Leu613=) c.1786C= (p.Leu596=) c.1891C= (p.Leu631=) c.1798C= (p.Leu600=) c.1897C= (p.Leu633=) c.1927C= (p.Leu643=) c.1918C= (p.Leu640=) c.1888C= (p.Leu630=) c.1831C= (p.Leu611=) c.1777C= (p.Leu593=) c.1570C= (p.Leu524=) c.1984C= (p.Leu662=) c.1978C= (p.Leu660=) c.1975C= (p.Leu659=) c.2035C= (p.Leu679=) c.2026C= (p.Leu676=) c.1945C= (p.Leu649=) c.1894C= (p.Leu632=) | |
| 14 | g.33800183C>G | CA389412934 | NPAS3 | c.1876C>G (p.Leu626Val) c.1885C>G (p.Leu629Val) c.1776C>G c.793+2602C>G c.1780C>G (p.Leu594Val) c.1837C>G (p.Leu613Val) c.1786C>G (p.Leu596Val) c.1891C>G (p.Leu631Val) c.1798C>G (p.Leu600Val) c.1897C>G (p.Leu633Val) c.1927C>G (p.Leu643Val) c.1918C>G (p.Leu640Val) c.1888C>G (p.Leu630Val) c.1831C>G (p.Leu611Val) c.1777C>G (p.Leu593Val) c.1570C>G (p.Leu524Val) c.1984C>G (p.Leu662Val) c.1978C>G (p.Leu660Val) c.1975C>G (p.Leu659Val) c.2035C>G (p.Leu679Val) c.2026C>G (p.Leu676Val) c.1945C>G (p.Leu649Val) c.1894C>G (p.Leu632Val) | |
| 14 | g.33800183C>T | CA7150902 | NPAS3 | c.1876C>T (p.Leu626=) c.1885C>T (p.Leu629=) c.1776C>T c.793+2602C>T c.1780C>T (p.Leu594=) c.1837C>T (p.Leu613=) c.1786C>T (p.Leu596=) c.1891C>T (p.Leu631=) c.1798C>T (p.Leu600=) c.1897C>T (p.Leu633=) c.1927C>T (p.Leu643=) c.1918C>T (p.Leu640=) c.1888C>T (p.Leu630=) c.1831C>T (p.Leu611=) c.1777C>T (p.Leu593=) c.1570C>T (p.Leu524=) c.1984C>T (p.Leu662=) c.1978C>T (p.Leu660=) c.1975C>T (p.Leu659=) c.2035C>T (p.Leu679=) c.2026C>T (p.Leu676=) c.1945C>T (p.Leu649=) c.1894C>T (p.Leu632=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800184T>A | CA389412938 | NPAS3 | c.1877T>A (p.Leu626Gln) c.1886T>A (p.Leu629Gln) c.1777T>A c.793+2603T>A c.1781T>A (p.Leu594Gln) c.1838T>A (p.Leu613Gln) c.1787T>A (p.Leu596Gln) c.1892T>A (p.Leu631Gln) c.1799T>A (p.Leu600Gln) c.1898T>A (p.Leu633Gln) c.1928T>A (p.Leu643Gln) c.1919T>A (p.Leu640Gln) c.1889T>A (p.Leu630Gln) c.1832T>A (p.Leu611Gln) c.1778T>A (p.Leu593Gln) c.1571T>A (p.Leu524Gln) c.1985T>A (p.Leu662Gln) c.1979T>A (p.Leu660Gln) c.1976T>A (p.Leu659Gln) c.2036T>A (p.Leu679Gln) c.2027T>A (p.Leu676Gln) c.1946T>A (p.Leu649Gln) c.1895T>A (p.Leu632Gln) | |
| 14 | g.33800184T>C | CA389412941 | NPAS3 | c.1877T>C (p.Leu626Pro) c.1886T>C (p.Leu629Pro) c.1777T>C c.793+2603T>C c.1781T>C (p.Leu594Pro) c.1838T>C (p.Leu613Pro) c.1787T>C (p.Leu596Pro) c.1892T>C (p.Leu631Pro) c.1799T>C (p.Leu600Pro) c.1898T>C (p.Leu633Pro) c.1928T>C (p.Leu643Pro) c.1919T>C (p.Leu640Pro) c.1889T>C (p.Leu630Pro) c.1832T>C (p.Leu611Pro) c.1778T>C (p.Leu593Pro) c.1571T>C (p.Leu524Pro) c.1985T>C (p.Leu662Pro) c.1979T>C (p.Leu660Pro) c.1976T>C (p.Leu659Pro) c.2036T>C (p.Leu679Pro) c.2027T>C (p.Leu676Pro) c.1946T>C (p.Leu649Pro) c.1895T>C (p.Leu632Pro) | |
| 14 | g.33800184T>G | CA389412943 | NPAS3 | c.1877T>G (p.Leu626Arg) c.1886T>G (p.Leu629Arg) c.1777T>G c.793+2603T>G c.1781T>G (p.Leu594Arg) c.1838T>G (p.Leu613Arg) c.1787T>G (p.Leu596Arg) c.1892T>G (p.Leu631Arg) c.1799T>G (p.Leu600Arg) c.1898T>G (p.Leu633Arg) c.1928T>G (p.Leu643Arg) c.1919T>G (p.Leu640Arg) c.1889T>G (p.Leu630Arg) c.1832T>G (p.Leu611Arg) c.1778T>G (p.Leu593Arg) c.1571T>G (p.Leu524Arg) c.1985T>G (p.Leu662Arg) c.1979T>G (p.Leu660Arg) c.1976T>G (p.Leu659Arg) c.2036T>G (p.Leu679Arg) c.2027T>G (p.Leu676Arg) c.1946T>G (p.Leu649Arg) c.1895T>G (p.Leu632Arg) | |
| 14 | g.33800185G>A | CA486092875 | NPAS3 | c.1878G>A (p.Leu626=) c.1887G>A (p.Leu629=) c.1778G>A c.793+2604G>A c.1782G>A (p.Leu594=) c.1839G>A (p.Leu613=) c.1788G>A (p.Leu596=) c.1893G>A (p.Leu631=) c.1800G>A (p.Leu600=) c.1899G>A (p.Leu633=) c.1929G>A (p.Leu643=) c.1920G>A (p.Leu640=) c.1890G>A (p.Leu630=) c.1833G>A (p.Leu611=) c.1779G>A (p.Leu593=) c.1572G>A (p.Leu524=) c.1986G>A (p.Leu662=) c.1980G>A (p.Leu660=) c.1977G>A (p.Leu659=) c.2037G>A (p.Leu679=) c.2028G>A (p.Leu676=) c.1947G>A (p.Leu649=) c.1896G>A (p.Leu632=) | gnomAD v4 |
| 14 | g.33800185G>C | CA486092876 | NPAS3 | c.1878G>C (p.Leu626=) c.1887G>C (p.Leu629=) c.1778G>C c.793+2604G>C c.1782G>C (p.Leu594=) c.1839G>C (p.Leu613=) c.1788G>C (p.Leu596=) c.1893G>C (p.Leu631=) c.1800G>C (p.Leu600=) c.1899G>C (p.Leu633=) c.1929G>C (p.Leu643=) c.1920G>C (p.Leu640=) c.1890G>C (p.Leu630=) c.1833G>C (p.Leu611=) c.1779G>C (p.Leu593=) c.1572G>C (p.Leu524=) c.1986G>C (p.Leu662=) c.1980G>C (p.Leu660=) c.1977G>C (p.Leu659=) c.2037G>C (p.Leu679=) c.2028G>C (p.Leu676=) c.1947G>C (p.Leu649=) c.1896G>C (p.Leu632=) | |
| 14 | g.33800185G>T | CA486092877 | NPAS3 | c.1878G>T (p.Leu626=) c.1887G>T (p.Leu629=) c.1778G>T c.793+2604G>T c.1782G>T (p.Leu594=) c.1839G>T (p.Leu613=) c.1788G>T (p.Leu596=) c.1893G>T (p.Leu631=) c.1800G>T (p.Leu600=) c.1899G>T (p.Leu633=) c.1929G>T (p.Leu643=) c.1920G>T (p.Leu640=) c.1890G>T (p.Leu630=) c.1833G>T (p.Leu611=) c.1779G>T (p.Leu593=) c.1572G>T (p.Leu524=) c.1986G>T (p.Leu662=) c.1980G>T (p.Leu660=) c.1977G>T (p.Leu659=) c.2037G>T (p.Leu679=) c.2028G>T (p.Leu676=) c.1947G>T (p.Leu649=) c.1896G>T (p.Leu632=) | |
| 14 | g.33800186G>A | CA389412944 | NPAS3 | c.1879G>A (p.Asp627Asn) c.1888G>A (p.Asp630Asn) c.1779G>A c.793+2605G>A c.1783G>A (p.Asp595Asn) c.1840G>A (p.Asp614Asn) c.1789G>A (p.Asp597Asn) c.1894G>A (p.Asp632Asn) c.1801G>A (p.Asp601Asn) c.1900G>A (p.Asp634Asn) c.1930G>A (p.Asp644Asn) c.1921G>A (p.Asp641Asn) c.1891G>A (p.Asp631Asn) c.1834G>A (p.Asp612Asn) c.1780G>A (p.Asp594Asn) c.1573G>A (p.Asp525Asn) c.1987G>A (p.Asp663Asn) c.1981G>A (p.Asp661Asn) c.1978G>A (p.Asp660Asn) c.2038G>A (p.Asp680Asn) c.2029G>A (p.Asp677Asn) c.1948G>A (p.Asp650Asn) c.1897G>A (p.Asp633Asn) | |
| 14 | g.33800186G>C | CA389412945 | NPAS3 | c.1879G>C (p.Asp627His) c.1888G>C (p.Asp630His) c.1779G>C c.793+2605G>C c.1783G>C (p.Asp595His) c.1840G>C (p.Asp614His) c.1789G>C (p.Asp597His) c.1894G>C (p.Asp632His) c.1801G>C (p.Asp601His) c.1900G>C (p.Asp634His) c.1930G>C (p.Asp644His) c.1921G>C (p.Asp641His) c.1891G>C (p.Asp631His) c.1834G>C (p.Asp612His) c.1780G>C (p.Asp594His) c.1573G>C (p.Asp525His) c.1987G>C (p.Asp663His) c.1981G>C (p.Asp661His) c.1978G>C (p.Asp660His) c.2038G>C (p.Asp680His) c.2029G>C (p.Asp677His) c.1948G>C (p.Asp650His) c.1897G>C (p.Asp633His) | |
| 14 | g.33800186G>T | CA389412947 | NPAS3 | c.1879G>T (p.Asp627Tyr) c.1888G>T (p.Asp630Tyr) c.1779G>T c.793+2605G>T c.1783G>T (p.Asp595Tyr) c.1840G>T (p.Asp614Tyr) c.1789G>T (p.Asp597Tyr) c.1894G>T (p.Asp632Tyr) c.1801G>T (p.Asp601Tyr) c.1900G>T (p.Asp634Tyr) c.1930G>T (p.Asp644Tyr) c.1921G>T (p.Asp641Tyr) c.1891G>T (p.Asp631Tyr) c.1834G>T (p.Asp612Tyr) c.1780G>T (p.Asp594Tyr) c.1573G>T (p.Asp525Tyr) c.1987G>T (p.Asp663Tyr) c.1981G>T (p.Asp661Tyr) c.1978G>T (p.Asp660Tyr) c.2038G>T (p.Asp680Tyr) c.2029G>T (p.Asp677Tyr) c.1948G>T (p.Asp650Tyr) c.1897G>T (p.Asp633Tyr) | |
| 14 | g.33800187A= | CA2128327029 | NPAS3 | c.1880A= (p.Asp627=) c.1889A= (p.Asp630=) c.1780A= c.793+2606A= c.1784A= (p.Asp595=) c.1841A= (p.Asp614=) c.1790A= (p.Asp597=) c.1895A= (p.Asp632=) c.1802A= (p.Asp601=) c.1901A= (p.Asp634=) c.1931A= (p.Asp644=) c.1922A= (p.Asp641=) c.1892A= (p.Asp631=) c.1835A= (p.Asp612=) c.1781A= (p.Asp594=) c.1574A= (p.Asp525=) c.1988A= (p.Asp663=) c.1982A= (p.Asp661=) c.1979A= (p.Asp660=) c.2039A= (p.Asp680=) c.2030A= (p.Asp677=) c.1949A= (p.Asp650=) c.1898A= (p.Asp633=) | |
| 14 | g.33800187A>C | CA389412949 | NPAS3 | c.1880A>C (p.Asp627Ala) c.1889A>C (p.Asp630Ala) c.1780A>C c.793+2606A>C c.1784A>C (p.Asp595Ala) c.1841A>C (p.Asp614Ala) c.1790A>C (p.Asp597Ala) c.1895A>C (p.Asp632Ala) c.1802A>C (p.Asp601Ala) c.1901A>C (p.Asp634Ala) c.1931A>C (p.Asp644Ala) c.1922A>C (p.Asp641Ala) c.1892A>C (p.Asp631Ala) c.1835A>C (p.Asp612Ala) c.1781A>C (p.Asp594Ala) c.1574A>C (p.Asp525Ala) c.1988A>C (p.Asp663Ala) c.1982A>C (p.Asp661Ala) c.1979A>C (p.Asp660Ala) c.2039A>C (p.Asp680Ala) c.2030A>C (p.Asp677Ala) c.1949A>C (p.Asp650Ala) c.1898A>C (p.Asp633Ala) | dbSNP |
| 14 | g.33800187A>G | CA389412950 | NPAS3 | c.1880A>G (p.Asp627Gly) c.1889A>G (p.Asp630Gly) c.1780A>G c.793+2606A>G c.1784A>G (p.Asp595Gly) c.1841A>G (p.Asp614Gly) c.1790A>G (p.Asp597Gly) c.1895A>G (p.Asp632Gly) c.1802A>G (p.Asp601Gly) c.1901A>G (p.Asp634Gly) c.1931A>G (p.Asp644Gly) c.1922A>G (p.Asp641Gly) c.1892A>G (p.Asp631Gly) c.1835A>G (p.Asp612Gly) c.1781A>G (p.Asp594Gly) c.1574A>G (p.Asp525Gly) c.1988A>G (p.Asp663Gly) c.1982A>G (p.Asp661Gly) c.1979A>G (p.Asp660Gly) c.2039A>G (p.Asp680Gly) c.2030A>G (p.Asp677Gly) c.1949A>G (p.Asp650Gly) c.1898A>G (p.Asp633Gly) | |
| 14 | g.33800187A>T | CA389412951 | NPAS3 | c.1880A>T (p.Asp627Val) c.1889A>T (p.Asp630Val) c.1780A>T c.793+2606A>T c.1784A>T (p.Asp595Val) c.1841A>T (p.Asp614Val) c.1790A>T (p.Asp597Val) c.1895A>T (p.Asp632Val) c.1802A>T (p.Asp601Val) c.1901A>T (p.Asp634Val) c.1931A>T (p.Asp644Val) c.1922A>T (p.Asp641Val) c.1892A>T (p.Asp631Val) c.1835A>T (p.Asp612Val) c.1781A>T (p.Asp594Val) c.1574A>T (p.Asp525Val) c.1988A>T (p.Asp663Val) c.1982A>T (p.Asp661Val) c.1979A>T (p.Asp660Val) c.2039A>T (p.Asp680Val) c.2030A>T (p.Asp677Val) c.1949A>T (p.Asp650Val) c.1898A>T (p.Asp633Val) | |
| 14 | g.33800188C>A | CA389412953 | NPAS3 | c.1881C>A (p.Asp627Glu) c.1890C>A (p.Asp630Glu) c.1781C>A c.793+2607C>A c.1785C>A (p.Asp595Glu) c.1842C>A (p.Asp614Glu) c.1791C>A (p.Asp597Glu) c.1896C>A (p.Asp632Glu) c.1803C>A (p.Asp601Glu) c.1902C>A (p.Asp634Glu) c.1932C>A (p.Asp644Glu) c.1923C>A (p.Asp641Glu) c.1893C>A (p.Asp631Glu) c.1836C>A (p.Asp612Glu) c.1782C>A (p.Asp594Glu) c.1575C>A (p.Asp525Glu) c.1989C>A (p.Asp663Glu) c.1983C>A (p.Asp661Glu) c.1980C>A (p.Asp660Glu) c.2040C>A (p.Asp680Glu) c.2031C>A (p.Asp677Glu) c.1950C>A (p.Asp650Glu) c.1899C>A (p.Asp633Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800188C= | CA2128327032 | NPAS3 | c.1881C= (p.Asp627=) c.1890C= (p.Asp630=) c.1781C= c.793+2607C= c.1785C= (p.Asp595=) c.1842C= (p.Asp614=) c.1791C= (p.Asp597=) c.1896C= (p.Asp632=) c.1803C= (p.Asp601=) c.1902C= (p.Asp634=) c.1932C= (p.Asp644=) c.1923C= (p.Asp641=) c.1893C= (p.Asp631=) c.1836C= (p.Asp612=) c.1782C= (p.Asp594=) c.1575C= (p.Asp525=) c.1989C= (p.Asp663=) c.1983C= (p.Asp661=) c.1980C= (p.Asp660=) c.2040C= (p.Asp680=) c.2031C= (p.Asp677=) c.1950C= (p.Asp650=) c.1899C= (p.Asp633=) | |
| 14 | g.33800188C>G | CA389412955 | NPAS3 | c.1881C>G (p.Asp627Glu) c.1890C>G (p.Asp630Glu) c.1781C>G c.793+2607C>G c.1785C>G (p.Asp595Glu) c.1842C>G (p.Asp614Glu) c.1791C>G (p.Asp597Glu) c.1896C>G (p.Asp632Glu) c.1803C>G (p.Asp601Glu) c.1902C>G (p.Asp634Glu) c.1932C>G (p.Asp644Glu) c.1923C>G (p.Asp641Glu) c.1893C>G (p.Asp631Glu) c.1836C>G (p.Asp612Glu) c.1782C>G (p.Asp594Glu) c.1575C>G (p.Asp525Glu) c.1989C>G (p.Asp663Glu) c.1983C>G (p.Asp661Glu) c.1980C>G (p.Asp660Glu) c.2040C>G (p.Asp680Glu) c.2031C>G (p.Asp677Glu) c.1950C>G (p.Asp650Glu) c.1899C>G (p.Asp633Glu) | gnomAD v4 |
| 14 | g.33800188C>T | CA486092879 | NPAS3 | c.1881C>T (p.Asp627=) c.1890C>T (p.Asp630=) c.1781C>T c.793+2607C>T c.1785C>T (p.Asp595=) c.1842C>T (p.Asp614=) c.1791C>T (p.Asp597=) c.1896C>T (p.Asp632=) c.1803C>T (p.Asp601=) c.1902C>T (p.Asp634=) c.1932C>T (p.Asp644=) c.1923C>T (p.Asp641=) c.1893C>T (p.Asp631=) c.1836C>T (p.Asp612=) c.1782C>T (p.Asp594=) c.1575C>T (p.Asp525=) c.1989C>T (p.Asp663=) c.1983C>T (p.Asp661=) c.1980C>T (p.Asp660=) c.2040C>T (p.Asp680=) c.2031C>T (p.Asp677=) c.1950C>T (p.Asp650=) c.1899C>T (p.Asp633=) | dbSNP gnomAD v4 |
| 14 | g.33800189G>A | CA389412956 | NPAS3 | c.1882G>A (p.Ala628Thr) c.1891G>A (p.Ala631Thr) c.1782G>A c.793+2608G>A c.1786G>A (p.Ala596Thr) c.1843G>A (p.Ala615Thr) c.1792G>A (p.Ala598Thr) c.1897G>A (p.Ala633Thr) c.1804G>A (p.Ala602Thr) c.1903G>A (p.Ala635Thr) c.1933G>A (p.Ala645Thr) c.1924G>A (p.Ala642Thr) c.1894G>A (p.Ala632Thr) c.1837G>A (p.Ala613Thr) c.1783G>A (p.Ala595Thr) c.1576G>A (p.Ala526Thr) c.1990G>A (p.Ala664Thr) c.1984G>A (p.Ala662Thr) c.1981G>A (p.Ala661Thr) c.2041G>A (p.Ala681Thr) c.2032G>A (p.Ala678Thr) c.1951G>A (p.Ala651Thr) c.1900G>A (p.Ala634Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800189G>C | CA389412957 | NPAS3 | c.1882G>C (p.Ala628Pro) c.1891G>C (p.Ala631Pro) c.1782G>C c.793+2608G>C c.1786G>C (p.Ala596Pro) c.1843G>C (p.Ala615Pro) c.1792G>C (p.Ala598Pro) c.1897G>C (p.Ala633Pro) c.1804G>C (p.Ala602Pro) c.1903G>C (p.Ala635Pro) c.1933G>C (p.Ala645Pro) c.1924G>C (p.Ala642Pro) c.1894G>C (p.Ala632Pro) c.1837G>C (p.Ala613Pro) c.1783G>C (p.Ala595Pro) c.1576G>C (p.Ala526Pro) c.1990G>C (p.Ala664Pro) c.1984G>C (p.Ala662Pro) c.1981G>C (p.Ala661Pro) c.2041G>C (p.Ala681Pro) c.2032G>C (p.Ala678Pro) c.1951G>C (p.Ala651Pro) c.1900G>C (p.Ala634Pro) | |
| 14 | g.33800189G= | CA2128327037 | NPAS3 | c.1882G= (p.Ala628=) c.1891G= (p.Ala631=) c.1782G= c.793+2608G= c.1786G= (p.Ala596=) c.1843G= (p.Ala615=) c.1792G= (p.Ala598=) c.1897G= (p.Ala633=) c.1804G= (p.Ala602=) c.1903G= (p.Ala635=) c.1933G= (p.Ala645=) c.1924G= (p.Ala642=) c.1894G= (p.Ala632=) c.1837G= (p.Ala613=) c.1783G= (p.Ala595=) c.1576G= (p.Ala526=) c.1990G= (p.Ala664=) c.1984G= (p.Ala662=) c.1981G= (p.Ala661=) c.2041G= (p.Ala681=) c.2032G= (p.Ala678=) c.1951G= (p.Ala651=) c.1900G= (p.Ala634=) | |
| 14 | g.33800189G>T | CA389412959 | NPAS3 | c.1882G>T (p.Ala628Ser) c.1891G>T (p.Ala631Ser) c.1782G>T c.793+2608G>T c.1786G>T (p.Ala596Ser) c.1843G>T (p.Ala615Ser) c.1792G>T (p.Ala598Ser) c.1897G>T (p.Ala633Ser) c.1804G>T (p.Ala602Ser) c.1903G>T (p.Ala635Ser) c.1933G>T (p.Ala645Ser) c.1924G>T (p.Ala642Ser) c.1894G>T (p.Ala632Ser) c.1837G>T (p.Ala613Ser) c.1783G>T (p.Ala595Ser) c.1576G>T (p.Ala526Ser) c.1990G>T (p.Ala664Ser) c.1984G>T (p.Ala662Ser) c.1981G>T (p.Ala661Ser) c.2041G>T (p.Ala681Ser) c.2032G>T (p.Ala678Ser) c.1951G>T (p.Ala651Ser) c.1900G>T (p.Ala634Ser) | gnomAD v4 |
| 14 | g.33800190C>A | CA7150903 | NPAS3 | c.1883C>A (p.Ala628Glu) c.1892C>A (p.Ala631Glu) c.1783C>A c.793+2609C>A c.1787C>A (p.Ala596Glu) c.1844C>A (p.Ala615Glu) c.1793C>A (p.Ala598Glu) c.1898C>A (p.Ala633Glu) c.1805C>A (p.Ala602Glu) c.1904C>A (p.Ala635Glu) c.1934C>A (p.Ala645Glu) c.1925C>A (p.Ala642Glu) c.1895C>A (p.Ala632Glu) c.1838C>A (p.Ala613Glu) c.1784C>A (p.Ala595Glu) c.1577C>A (p.Ala526Glu) c.1991C>A (p.Ala664Glu) c.1985C>A (p.Ala662Glu) c.1982C>A (p.Ala661Glu) c.2042C>A (p.Ala681Glu) c.2033C>A (p.Ala678Glu) c.1952C>A (p.Ala651Glu) c.1901C>A (p.Ala634Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800190C= | CA2128327039 | NPAS3 | c.1883C= (p.Ala628=) c.1892C= (p.Ala631=) c.1783C= c.793+2609C= c.1787C= (p.Ala596=) c.1844C= (p.Ala615=) c.1793C= (p.Ala598=) c.1898C= (p.Ala633=) c.1805C= (p.Ala602=) c.1904C= (p.Ala635=) c.1934C= (p.Ala645=) c.1925C= (p.Ala642=) c.1895C= (p.Ala632=) c.1838C= (p.Ala613=) c.1784C= (p.Ala595=) c.1577C= (p.Ala526=) c.1991C= (p.Ala664=) c.1985C= (p.Ala662=) c.1982C= (p.Ala661=) c.2042C= (p.Ala681=) c.2033C= (p.Ala678=) c.1952C= (p.Ala651=) c.1901C= (p.Ala634=) | |
| 14 | g.33800190C>G | CA389412962 | NPAS3 | c.1883C>G (p.Ala628Gly) c.1892C>G (p.Ala631Gly) c.1783C>G c.793+2609C>G c.1787C>G (p.Ala596Gly) c.1844C>G (p.Ala615Gly) c.1793C>G (p.Ala598Gly) c.1898C>G (p.Ala633Gly) c.1805C>G (p.Ala602Gly) c.1904C>G (p.Ala635Gly) c.1934C>G (p.Ala645Gly) c.1925C>G (p.Ala642Gly) c.1895C>G (p.Ala632Gly) c.1838C>G (p.Ala613Gly) c.1784C>G (p.Ala595Gly) c.1577C>G (p.Ala526Gly) c.1991C>G (p.Ala664Gly) c.1985C>G (p.Ala662Gly) c.1982C>G (p.Ala661Gly) c.2042C>G (p.Ala681Gly) c.2033C>G (p.Ala678Gly) c.1952C>G (p.Ala651Gly) c.1901C>G (p.Ala634Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800190C>T | CA389412964 | NPAS3 | c.1883C>T (p.Ala628Val) c.1892C>T (p.Ala631Val) c.1783C>T c.793+2609C>T c.1787C>T (p.Ala596Val) c.1844C>T (p.Ala615Val) c.1793C>T (p.Ala598Val) c.1898C>T (p.Ala633Val) c.1805C>T (p.Ala602Val) c.1904C>T (p.Ala635Val) c.1934C>T (p.Ala645Val) c.1925C>T (p.Ala642Val) c.1895C>T (p.Ala632Val) c.1838C>T (p.Ala613Val) c.1784C>T (p.Ala595Val) c.1577C>T (p.Ala526Val) c.1991C>T (p.Ala664Val) c.1985C>T (p.Ala662Val) c.1982C>T (p.Ala661Val) c.2042C>T (p.Ala681Val) c.2033C>T (p.Ala678Val) c.1952C>T (p.Ala651Val) c.1901C>T (p.Ala634Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800191G>A | CA7150904 | NPAS3 | c.1884G>A (p.Ala628=) c.1893G>A (p.Ala631=) c.1784G>A c.793+2610G>A c.1788G>A (p.Ala596=) c.1845G>A (p.Ala615=) c.1794G>A (p.Ala598=) c.1899G>A (p.Ala633=) c.1806G>A (p.Ala602=) c.1905G>A (p.Ala635=) c.1935G>A (p.Ala645=) c.1926G>A (p.Ala642=) c.1896G>A (p.Ala632=) c.1839G>A (p.Ala613=) c.1785G>A (p.Ala595=) c.1578G>A (p.Ala526=) c.1992G>A (p.Ala664=) c.1986G>A (p.Ala662=) c.1983G>A (p.Ala661=) c.2043G>A (p.Ala681=) c.2034G>A (p.Ala678=) c.1953G>A (p.Ala651=) c.1902G>A (p.Ala634=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800191G>C | CA486092884 | NPAS3 | c.1884G>C (p.Ala628=) c.1893G>C (p.Ala631=) c.1784G>C c.793+2610G>C c.1788G>C (p.Ala596=) c.1845G>C (p.Ala615=) c.1794G>C (p.Ala598=) c.1899G>C (p.Ala633=) c.1806G>C (p.Ala602=) c.1905G>C (p.Ala635=) c.1935G>C (p.Ala645=) c.1926G>C (p.Ala642=) c.1896G>C (p.Ala632=) c.1839G>C (p.Ala613=) c.1785G>C (p.Ala595=) c.1578G>C (p.Ala526=) c.1992G>C (p.Ala664=) c.1986G>C (p.Ala662=) c.1983G>C (p.Ala661=) c.2043G>C (p.Ala681=) c.2034G>C (p.Ala678=) c.1953G>C (p.Ala651=) c.1902G>C (p.Ala634=) | gnomAD v4 |
| 14 | g.33800191G= | CA2128327043 | NPAS3 | c.1884G= (p.Ala628=) c.1893G= (p.Ala631=) c.1784G= c.793+2610G= c.1788G= (p.Ala596=) c.1845G= (p.Ala615=) c.1794G= (p.Ala598=) c.1899G= (p.Ala633=) c.1806G= (p.Ala602=) c.1905G= (p.Ala635=) c.1935G= (p.Ala645=) c.1926G= (p.Ala642=) c.1896G= (p.Ala632=) c.1839G= (p.Ala613=) c.1785G= (p.Ala595=) c.1578G= (p.Ala526=) c.1992G= (p.Ala664=) c.1986G= (p.Ala662=) c.1983G= (p.Ala661=) c.2043G= (p.Ala681=) c.2034G= (p.Ala678=) c.1953G= (p.Ala651=) c.1902G= (p.Ala634=) | |
| 14 | g.33800191G>T | CA486092885 | NPAS3 | c.1884G>T (p.Ala628=) c.1893G>T (p.Ala631=) c.1784G>T c.793+2610G>T c.1788G>T (p.Ala596=) c.1845G>T (p.Ala615=) c.1794G>T (p.Ala598=) c.1899G>T (p.Ala633=) c.1806G>T (p.Ala602=) c.1905G>T (p.Ala635=) c.1935G>T (p.Ala645=) c.1926G>T (p.Ala642=) c.1896G>T (p.Ala632=) c.1839G>T (p.Ala613=) c.1785G>T (p.Ala595=) c.1578G>T (p.Ala526=) c.1992G>T (p.Ala664=) c.1986G>T (p.Ala662=) c.1983G>T (p.Ala661=) c.2043G>T (p.Ala681=) c.2034G>T (p.Ala678=) c.1953G>T (p.Ala651=) c.1902G>T (p.Ala634=) | |
| 14 | g.33800192G>A | CA389412968 | NPAS3 | c.1885G>A (p.Gly629Ser) c.1894G>A (p.Gly632Ser) c.1785G>A c.793+2611G>A c.1789G>A (p.Gly597Ser) c.1846G>A (p.Gly616Ser) c.1795G>A (p.Gly599Ser) c.1900G>A (p.Gly634Ser) c.1807G>A (p.Gly603Ser) c.1906G>A (p.Gly636Ser) c.1936G>A (p.Gly646Ser) c.1927G>A (p.Gly643Ser) c.1897G>A (p.Gly633Ser) c.1840G>A (p.Gly614Ser) c.1786G>A (p.Gly596Ser) c.1579G>A (p.Gly527Ser) c.1993G>A (p.Gly665Ser) c.1987G>A (p.Gly663Ser) c.1984G>A (p.Gly662Ser) c.2044G>A (p.Gly682Ser) c.2035G>A (p.Gly679Ser) c.1954G>A (p.Gly652Ser) c.1903G>A (p.Gly635Ser) | |
| 14 | g.33800192G>C | CA389412969 | NPAS3 | c.1885G>C (p.Gly629Arg) c.1894G>C (p.Gly632Arg) c.1785G>C c.793+2611G>C c.1789G>C (p.Gly597Arg) c.1846G>C (p.Gly616Arg) c.1795G>C (p.Gly599Arg) c.1900G>C (p.Gly634Arg) c.1807G>C (p.Gly603Arg) c.1906G>C (p.Gly636Arg) c.1936G>C (p.Gly646Arg) c.1927G>C (p.Gly643Arg) c.1897G>C (p.Gly633Arg) c.1840G>C (p.Gly614Arg) c.1786G>C (p.Gly596Arg) c.1579G>C (p.Gly527Arg) c.1993G>C (p.Gly665Arg) c.1987G>C (p.Gly663Arg) c.1984G>C (p.Gly662Arg) c.2044G>C (p.Gly682Arg) c.2035G>C (p.Gly679Arg) c.1954G>C (p.Gly652Arg) c.1903G>C (p.Gly635Arg) | |
| 14 | g.33800192G>T | CA389412972 | NPAS3 | c.1885G>T (p.Gly629Cys) c.1894G>T (p.Gly632Cys) c.1785G>T c.793+2611G>T c.1789G>T (p.Gly597Cys) c.1846G>T (p.Gly616Cys) c.1795G>T (p.Gly599Cys) c.1900G>T (p.Gly634Cys) c.1807G>T (p.Gly603Cys) c.1906G>T (p.Gly636Cys) c.1936G>T (p.Gly646Cys) c.1927G>T (p.Gly643Cys) c.1897G>T (p.Gly633Cys) c.1840G>T (p.Gly614Cys) c.1786G>T (p.Gly596Cys) c.1579G>T (p.Gly527Cys) c.1993G>T (p.Gly665Cys) c.1987G>T (p.Gly663Cys) c.1984G>T (p.Gly662Cys) c.2044G>T (p.Gly682Cys) c.2035G>T (p.Gly679Cys) c.1954G>T (p.Gly652Cys) c.1903G>T (p.Gly635Cys) | |
| 14 | g.33800193G>A | CA389412974 | NPAS3 | c.1886G>A (p.Gly629Asp) c.1895G>A (p.Gly632Asp) c.1786G>A c.793+2612G>A c.1790G>A (p.Gly597Asp) c.1847G>A (p.Gly616Asp) c.1796G>A (p.Gly599Asp) c.1901G>A (p.Gly634Asp) c.1808G>A (p.Gly603Asp) c.1907G>A (p.Gly636Asp) c.1937G>A (p.Gly646Asp) c.1928G>A (p.Gly643Asp) c.1898G>A (p.Gly633Asp) c.1841G>A (p.Gly614Asp) c.1787G>A (p.Gly596Asp) c.1580G>A (p.Gly527Asp) c.1994G>A (p.Gly665Asp) c.1988G>A (p.Gly663Asp) c.1985G>A (p.Gly662Asp) c.2045G>A (p.Gly682Asp) c.2036G>A (p.Gly679Asp) c.1955G>A (p.Gly652Asp) c.1904G>A (p.Gly635Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800193G>C | CA389412976 | NPAS3 | c.1886G>C (p.Gly629Ala) c.1895G>C (p.Gly632Ala) c.1786G>C c.793+2612G>C c.1790G>C (p.Gly597Ala) c.1847G>C (p.Gly616Ala) c.1796G>C (p.Gly599Ala) c.1901G>C (p.Gly634Ala) c.1808G>C (p.Gly603Ala) c.1907G>C (p.Gly636Ala) c.1937G>C (p.Gly646Ala) c.1928G>C (p.Gly643Ala) c.1898G>C (p.Gly633Ala) c.1841G>C (p.Gly614Ala) c.1787G>C (p.Gly596Ala) c.1580G>C (p.Gly527Ala) c.1994G>C (p.Gly665Ala) c.1988G>C (p.Gly663Ala) c.1985G>C (p.Gly662Ala) c.2045G>C (p.Gly682Ala) c.2036G>C (p.Gly679Ala) c.1955G>C (p.Gly652Ala) c.1904G>C (p.Gly635Ala) | |
| 14 | g.33800193G= | CA2128327047 | NPAS3 | c.1886G= (p.Gly629=) c.1895G= (p.Gly632=) c.1786G= c.793+2612G= c.1790G= (p.Gly597=) c.1847G= (p.Gly616=) c.1796G= (p.Gly599=) c.1901G= (p.Gly634=) c.1808G= (p.Gly603=) c.1907G= (p.Gly636=) c.1937G= (p.Gly646=) c.1928G= (p.Gly643=) c.1898G= (p.Gly633=) c.1841G= (p.Gly614=) c.1787G= (p.Gly596=) c.1580G= (p.Gly527=) c.1994G= (p.Gly665=) c.1988G= (p.Gly663=) c.1985G= (p.Gly662=) c.2045G= (p.Gly682=) c.2036G= (p.Gly679=) c.1955G= (p.Gly652=) c.1904G= (p.Gly635=) | |
| 14 | g.33800193G>T | CA389412978 | NPAS3 | c.1886G>T (p.Gly629Val) c.1895G>T (p.Gly632Val) c.1786G>T c.793+2612G>T c.1790G>T (p.Gly597Val) c.1847G>T (p.Gly616Val) c.1796G>T (p.Gly599Val) c.1901G>T (p.Gly634Val) c.1808G>T (p.Gly603Val) c.1907G>T (p.Gly636Val) c.1937G>T (p.Gly646Val) c.1928G>T (p.Gly643Val) c.1898G>T (p.Gly633Val) c.1841G>T (p.Gly614Val) c.1787G>T (p.Gly596Val) c.1580G>T (p.Gly527Val) c.1994G>T (p.Gly665Val) c.1988G>T (p.Gly663Val) c.1985G>T (p.Gly662Val) c.2045G>T (p.Gly682Val) c.2036G>T (p.Gly679Val) c.1955G>T (p.Gly652Val) c.1904G>T (p.Gly635Val) | |
| 14 | g.33800194C>A | CA486092889 | NPAS3 | c.1887C>A (p.Gly629=) c.1896C>A (p.Gly632=) c.1787C>A c.793+2613C>A c.1791C>A (p.Gly597=) c.1848C>A (p.Gly616=) c.1797C>A (p.Gly599=) c.1902C>A (p.Gly634=) c.1809C>A (p.Gly603=) c.1908C>A (p.Gly636=) c.1938C>A (p.Gly646=) c.1929C>A (p.Gly643=) c.1899C>A (p.Gly633=) c.1842C>A (p.Gly614=) c.1788C>A (p.Gly596=) c.1581C>A (p.Gly527=) c.1995C>A (p.Gly665=) c.1989C>A (p.Gly663=) c.1986C>A (p.Gly662=) c.2046C>A (p.Gly682=) c.2037C>A (p.Gly679=) c.1956C>A (p.Gly652=) c.1905C>A (p.Gly635=) | |
| 14 | g.33800194C>G | CA486092890 | NPAS3 | c.1887C>G (p.Gly629=) c.1896C>G (p.Gly632=) c.1787C>G c.793+2613C>G c.1791C>G (p.Gly597=) c.1848C>G (p.Gly616=) c.1797C>G (p.Gly599=) c.1902C>G (p.Gly634=) c.1809C>G (p.Gly603=) c.1908C>G (p.Gly636=) c.1938C>G (p.Gly646=) c.1929C>G (p.Gly643=) c.1899C>G (p.Gly633=) c.1842C>G (p.Gly614=) c.1788C>G (p.Gly596=) c.1581C>G (p.Gly527=) c.1995C>G (p.Gly665=) c.1989C>G (p.Gly663=) c.1986C>G (p.Gly662=) c.2046C>G (p.Gly682=) c.2037C>G (p.Gly679=) c.1956C>G (p.Gly652=) c.1905C>G (p.Gly635=) | gnomAD v4 |
| 14 | g.33800194C>T | CA486092892 | NPAS3 | c.1887C>T (p.Gly629=) c.1896C>T (p.Gly632=) c.1787C>T c.793+2613C>T c.1791C>T (p.Gly597=) c.1848C>T (p.Gly616=) c.1797C>T (p.Gly599=) c.1902C>T (p.Gly634=) c.1809C>T (p.Gly603=) c.1908C>T (p.Gly636=) c.1938C>T (p.Gly646=) c.1929C>T (p.Gly643=) c.1899C>T (p.Gly633=) c.1842C>T (p.Gly614=) c.1788C>T (p.Gly596=) c.1581C>T (p.Gly527=) c.1995C>T (p.Gly665=) c.1989C>T (p.Gly663=) c.1986C>T (p.Gly662=) c.2046C>T (p.Gly682=) c.2037C>T (p.Gly679=) c.1956C>T (p.Gly652=) c.1905C>T (p.Gly635=) | |
| 14 | g.33800195C>A | CA389412979 | NPAS3 | c.1888C>A (p.Leu630Met) c.1897C>A (p.Leu633Met) c.1788C>A c.793+2614C>A c.1792C>A (p.Leu598Met) c.1849C>A (p.Leu617Met) c.1798C>A (p.Leu600Met) c.1903C>A (p.Leu635Met) c.1810C>A (p.Leu604Met) c.1909C>A (p.Leu637Met) c.1939C>A (p.Leu647Met) c.1930C>A (p.Leu644Met) c.1900C>A (p.Leu634Met) c.1843C>A (p.Leu615Met) c.1789C>A (p.Leu597Met) c.1582C>A (p.Leu528Met) c.1996C>A (p.Leu666Met) c.1990C>A (p.Leu664Met) c.1987C>A (p.Leu663Met) c.2047C>A (p.Leu683Met) c.2038C>A (p.Leu680Met) c.1957C>A (p.Leu653Met) c.1906C>A (p.Leu636Met) | |
| 14 | g.33800195C= | CA2128327052 | NPAS3 | c.1888C= (p.Leu630=) c.1897C= (p.Leu633=) c.1788C= c.793+2614C= c.1792C= (p.Leu598=) c.1849C= (p.Leu617=) c.1798C= (p.Leu600=) c.1903C= (p.Leu635=) c.1810C= (p.Leu604=) c.1909C= (p.Leu637=) c.1939C= (p.Leu647=) c.1930C= (p.Leu644=) c.1900C= (p.Leu634=) c.1843C= (p.Leu615=) c.1789C= (p.Leu597=) c.1582C= (p.Leu528=) c.1996C= (p.Leu666=) c.1990C= (p.Leu664=) c.1987C= (p.Leu663=) c.2047C= (p.Leu683=) c.2038C= (p.Leu680=) c.1957C= (p.Leu653=) c.1906C= (p.Leu636=) | |
| 14 | g.33800195C>G | CA389412980 | NPAS3 | c.1888C>G (p.Leu630Val) c.1897C>G (p.Leu633Val) c.1788C>G c.793+2614C>G c.1792C>G (p.Leu598Val) c.1849C>G (p.Leu617Val) c.1798C>G (p.Leu600Val) c.1903C>G (p.Leu635Val) c.1810C>G (p.Leu604Val) c.1909C>G (p.Leu637Val) c.1939C>G (p.Leu647Val) c.1930C>G (p.Leu644Val) c.1900C>G (p.Leu634Val) c.1843C>G (p.Leu615Val) c.1789C>G (p.Leu597Val) c.1582C>G (p.Leu528Val) c.1996C>G (p.Leu666Val) c.1990C>G (p.Leu664Val) c.1987C>G (p.Leu663Val) c.2047C>G (p.Leu683Val) c.2038C>G (p.Leu680Val) c.1957C>G (p.Leu653Val) c.1906C>G (p.Leu636Val) | |
| 14 | g.33800195C>T | CA486092893 | NPAS3 | c.1888C>T (p.Leu630=) c.1897C>T (p.Leu633=) c.1788C>T c.793+2614C>T c.1792C>T (p.Leu598=) c.1849C>T (p.Leu617=) c.1798C>T (p.Leu600=) c.1903C>T (p.Leu635=) c.1810C>T (p.Leu604=) c.1909C>T (p.Leu637=) c.1939C>T (p.Leu647=) c.1930C>T (p.Leu644=) c.1900C>T (p.Leu634=) c.1843C>T (p.Leu615=) c.1789C>T (p.Leu597=) c.1582C>T (p.Leu528=) c.1996C>T (p.Leu666=) c.1990C>T (p.Leu664=) c.1987C>T (p.Leu663=) c.2047C>T (p.Leu683=) c.2038C>T (p.Leu680=) c.1957C>T (p.Leu653=) c.1906C>T (p.Leu636=) | dbSNP |
| 14 | g.33800196T>A | CA389412983 | NPAS3 | c.1889T>A (p.Leu630Gln) c.1898T>A (p.Leu633Gln) c.1789T>A c.793+2615T>A c.1793T>A (p.Leu598Gln) c.1850T>A (p.Leu617Gln) c.1799T>A (p.Leu600Gln) c.1904T>A (p.Leu635Gln) c.1811T>A (p.Leu604Gln) c.1910T>A (p.Leu637Gln) c.1940T>A (p.Leu647Gln) c.1931T>A (p.Leu644Gln) c.1901T>A (p.Leu634Gln) c.1844T>A (p.Leu615Gln) c.1790T>A (p.Leu597Gln) c.1583T>A (p.Leu528Gln) c.1997T>A (p.Leu666Gln) c.1991T>A (p.Leu664Gln) c.1988T>A (p.Leu663Gln) c.2048T>A (p.Leu683Gln) c.2039T>A (p.Leu680Gln) c.1958T>A (p.Leu653Gln) c.1907T>A (p.Leu636Gln) | |
| 14 | g.33800196T>C | CA389412985 | NPAS3 | c.1889T>C (p.Leu630Pro) c.1898T>C (p.Leu633Pro) c.1789T>C c.793+2615T>C c.1793T>C (p.Leu598Pro) c.1850T>C (p.Leu617Pro) c.1799T>C (p.Leu600Pro) c.1904T>C (p.Leu635Pro) c.1811T>C (p.Leu604Pro) c.1910T>C (p.Leu637Pro) c.1940T>C (p.Leu647Pro) c.1931T>C (p.Leu644Pro) c.1901T>C (p.Leu634Pro) c.1844T>C (p.Leu615Pro) c.1790T>C (p.Leu597Pro) c.1583T>C (p.Leu528Pro) c.1997T>C (p.Leu666Pro) c.1991T>C (p.Leu664Pro) c.1988T>C (p.Leu663Pro) c.2048T>C (p.Leu683Pro) c.2039T>C (p.Leu680Pro) c.1958T>C (p.Leu653Pro) c.1907T>C (p.Leu636Pro) | |
| 14 | g.33800196T>G | CA389412987 | NPAS3 | c.1889T>G (p.Leu630Arg) c.1898T>G (p.Leu633Arg) c.1789T>G c.793+2615T>G c.1793T>G (p.Leu598Arg) c.1850T>G (p.Leu617Arg) c.1799T>G (p.Leu600Arg) c.1904T>G (p.Leu635Arg) c.1811T>G (p.Leu604Arg) c.1910T>G (p.Leu637Arg) c.1940T>G (p.Leu647Arg) c.1931T>G (p.Leu644Arg) c.1901T>G (p.Leu634Arg) c.1844T>G (p.Leu615Arg) c.1790T>G (p.Leu597Arg) c.1583T>G (p.Leu528Arg) c.1997T>G (p.Leu666Arg) c.1991T>G (p.Leu664Arg) c.1988T>G (p.Leu663Arg) c.2048T>G (p.Leu683Arg) c.2039T>G (p.Leu680Arg) c.1958T>G (p.Leu653Arg) c.1907T>G (p.Leu636Arg) | dbSNP gnomAD v4 |
| 14 | g.33800196T= | CA2128327056 | NPAS3 | c.1889T= (p.Leu630=) c.1898T= (p.Leu633=) c.1789T= c.793+2615T= c.1793T= (p.Leu598=) c.1850T= (p.Leu617=) c.1799T= (p.Leu600=) c.1904T= (p.Leu635=) c.1811T= (p.Leu604=) c.1910T= (p.Leu637=) c.1940T= (p.Leu647=) c.1931T= (p.Leu644=) c.1901T= (p.Leu634=) c.1844T= (p.Leu615=) c.1790T= (p.Leu597=) c.1583T= (p.Leu528=) c.1997T= (p.Leu666=) c.1991T= (p.Leu664=) c.1988T= (p.Leu663=) c.2048T= (p.Leu683=) c.2039T= (p.Leu680=) c.1958T= (p.Leu653=) c.1907T= (p.Leu636=) | |
| 14 | g.33800197G>A | CA486092898 | NPAS3 | c.1890G>A (p.Leu630=) c.1899G>A (p.Leu633=) c.1790G>A c.793+2616G>A c.1794G>A (p.Leu598=) c.1851G>A (p.Leu617=) c.1800G>A (p.Leu600=) c.1905G>A (p.Leu635=) c.1812G>A (p.Leu604=) c.1911G>A (p.Leu637=) c.1941G>A (p.Leu647=) c.1932G>A (p.Leu644=) c.1902G>A (p.Leu634=) c.1845G>A (p.Leu615=) c.1791G>A (p.Leu597=) c.1584G>A (p.Leu528=) c.1998G>A (p.Leu666=) c.1992G>A (p.Leu664=) c.1989G>A (p.Leu663=) c.2049G>A (p.Leu683=) c.2040G>A (p.Leu680=) c.1959G>A (p.Leu653=) c.1908G>A (p.Leu636=) | gnomAD v3 gnomAD v4 |
| 14 | g.33800197G>C | CA486092897 | NPAS3 | c.1890G>C (p.Leu630=) c.1899G>C (p.Leu633=) c.1790G>C c.793+2616G>C c.1794G>C (p.Leu598=) c.1851G>C (p.Leu617=) c.1800G>C (p.Leu600=) c.1905G>C (p.Leu635=) c.1812G>C (p.Leu604=) c.1911G>C (p.Leu637=) c.1941G>C (p.Leu647=) c.1932G>C (p.Leu644=) c.1902G>C (p.Leu634=) c.1845G>C (p.Leu615=) c.1791G>C (p.Leu597=) c.1584G>C (p.Leu528=) c.1998G>C (p.Leu666=) c.1992G>C (p.Leu664=) c.1989G>C (p.Leu663=) c.2049G>C (p.Leu683=) c.2040G>C (p.Leu680=) c.1959G>C (p.Leu653=) c.1908G>C (p.Leu636=) | |
| 14 | g.33800197G>T | CA486092899 | NPAS3 | c.1890G>T (p.Leu630=) c.1899G>T (p.Leu633=) c.1790G>T c.793+2616G>T c.1794G>T (p.Leu598=) c.1851G>T (p.Leu617=) c.1800G>T (p.Leu600=) c.1905G>T (p.Leu635=) c.1812G>T (p.Leu604=) c.1911G>T (p.Leu637=) c.1941G>T (p.Leu647=) c.1932G>T (p.Leu644=) c.1902G>T (p.Leu634=) c.1845G>T (p.Leu615=) c.1791G>T (p.Leu597=) c.1584G>T (p.Leu528=) c.1998G>T (p.Leu666=) c.1992G>T (p.Leu664=) c.1989G>T (p.Leu663=) c.2049G>T (p.Leu683=) c.2040G>T (p.Leu680=) c.1959G>T (p.Leu653=) c.1908G>T (p.Leu636=) | COSMIC COSMIC COSMIC |
| 14 | g.33800198G>A | CA389412988 | NPAS3 | c.1891G>A (p.Val631Met) c.1900G>A (p.Val634Met) c.1791G>A c.793+2617G>A c.1795G>A (p.Val599Met) c.1852G>A (p.Val618Met) c.1801G>A (p.Val601Met) c.1906G>A (p.Val636Met) c.1813G>A (p.Val605Met) c.1912G>A (p.Val638Met) c.1942G>A (p.Val648Met) c.1933G>A (p.Val645Met) c.1903G>A (p.Val635Met) c.1846G>A (p.Val616Met) c.1792G>A (p.Val598Met) c.1585G>A (p.Val529Met) c.1999G>A (p.Val667Met) c.1993G>A (p.Val665Met) c.1990G>A (p.Val664Met) c.2050G>A (p.Val684Met) c.2041G>A (p.Val681Met) c.1960G>A (p.Val654Met) c.1909G>A (p.Val637Met) | |
| 14 | g.33800198G>C | CA389412989 | NPAS3 | c.1891G>C (p.Val631Leu) c.1900G>C (p.Val634Leu) c.1791G>C c.793+2617G>C c.1795G>C (p.Val599Leu) c.1852G>C (p.Val618Leu) c.1801G>C (p.Val601Leu) c.1906G>C (p.Val636Leu) c.1813G>C (p.Val605Leu) c.1912G>C (p.Val638Leu) c.1942G>C (p.Val648Leu) c.1933G>C (p.Val645Leu) c.1903G>C (p.Val635Leu) c.1846G>C (p.Val616Leu) c.1792G>C (p.Val598Leu) c.1585G>C (p.Val529Leu) c.1999G>C (p.Val667Leu) c.1993G>C (p.Val665Leu) c.1990G>C (p.Val664Leu) c.2050G>C (p.Val684Leu) c.2041G>C (p.Val681Leu) c.1960G>C (p.Val654Leu) c.1909G>C (p.Val637Leu) | COSMIC COSMIC COSMIC |
| 14 | g.33800198G= | CA2128327060 | NPAS3 | c.1891G= (p.Val631=) c.1900G= (p.Val634=) c.1791G= c.793+2617G= c.1795G= (p.Val599=) c.1852G= (p.Val618=) c.1801G= (p.Val601=) c.1906G= (p.Val636=) c.1813G= (p.Val605=) c.1912G= (p.Val638=) c.1942G= (p.Val648=) c.1933G= (p.Val645=) c.1903G= (p.Val635=) c.1846G= (p.Val616=) c.1792G= (p.Val598=) c.1585G= (p.Val529=) c.1999G= (p.Val667=) c.1993G= (p.Val665=) c.1990G= (p.Val664=) c.2050G= (p.Val684=) c.2041G= (p.Val681=) c.1960G= (p.Val654=) c.1909G= (p.Val637=) | |
| 14 | g.33800198G>T | CA389412991 | NPAS3 | c.1891G>T (p.Val631Leu) c.1900G>T (p.Val634Leu) c.1791G>T c.793+2617G>T c.1795G>T (p.Val599Leu) c.1852G>T (p.Val618Leu) c.1801G>T (p.Val601Leu) c.1906G>T (p.Val636Leu) c.1813G>T (p.Val605Leu) c.1912G>T (p.Val638Leu) c.1942G>T (p.Val648Leu) c.1933G>T (p.Val645Leu) c.1903G>T (p.Val635Leu) c.1846G>T (p.Val616Leu) c.1792G>T (p.Val598Leu) c.1585G>T (p.Val529Leu) c.1999G>T (p.Val667Leu) c.1993G>T (p.Val665Leu) c.1990G>T (p.Val664Leu) c.2050G>T (p.Val684Leu) c.2041G>T (p.Val681Leu) c.1960G>T (p.Val654Leu) c.1909G>T (p.Val637Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800199T>A | CA389412993 | NPAS3 | c.1892T>A (p.Val631Glu) c.1901T>A (p.Val634Glu) c.1792T>A c.793+2618T>A c.1796T>A (p.Val599Glu) c.1853T>A (p.Val618Glu) c.1802T>A (p.Val601Glu) c.1907T>A (p.Val636Glu) c.1814T>A (p.Val605Glu) c.1913T>A (p.Val638Glu) c.1943T>A (p.Val648Glu) c.1934T>A (p.Val645Glu) c.1904T>A (p.Val635Glu) c.1847T>A (p.Val616Glu) c.1793T>A (p.Val598Glu) c.1586T>A (p.Val529Glu) c.2000T>A (p.Val667Glu) c.1994T>A (p.Val665Glu) c.1991T>A (p.Val664Glu) c.2051T>A (p.Val684Glu) c.2042T>A (p.Val681Glu) c.1961T>A (p.Val654Glu) c.1910T>A (p.Val637Glu) | |
| 14 | g.33800199T>C | CA389412995 | NPAS3 | c.1892T>C (p.Val631Ala) c.1901T>C (p.Val634Ala) c.1792T>C c.793+2618T>C c.1796T>C (p.Val599Ala) c.1853T>C (p.Val618Ala) c.1802T>C (p.Val601Ala) c.1907T>C (p.Val636Ala) c.1814T>C (p.Val605Ala) c.1913T>C (p.Val638Ala) c.1943T>C (p.Val648Ala) c.1934T>C (p.Val645Ala) c.1904T>C (p.Val635Ala) c.1847T>C (p.Val616Ala) c.1793T>C (p.Val598Ala) c.1586T>C (p.Val529Ala) c.2000T>C (p.Val667Ala) c.1994T>C (p.Val665Ala) c.1991T>C (p.Val664Ala) c.2051T>C (p.Val684Ala) c.2042T>C (p.Val681Ala) c.1961T>C (p.Val654Ala) c.1910T>C (p.Val637Ala) | gnomAD v4 |
| 14 | g.33800199T>G | CA389412997 | NPAS3 | c.1892T>G (p.Val631Gly) c.1901T>G (p.Val634Gly) c.1792T>G c.793+2618T>G c.1796T>G (p.Val599Gly) c.1853T>G (p.Val618Gly) c.1802T>G (p.Val601Gly) c.1907T>G (p.Val636Gly) c.1814T>G (p.Val605Gly) c.1913T>G (p.Val638Gly) c.1943T>G (p.Val648Gly) c.1934T>G (p.Val645Gly) c.1904T>G (p.Val635Gly) c.1847T>G (p.Val616Gly) c.1793T>G (p.Val598Gly) c.1586T>G (p.Val529Gly) c.2000T>G (p.Val667Gly) c.1994T>G (p.Val665Gly) c.1991T>G (p.Val664Gly) c.2051T>G (p.Val684Gly) c.2042T>G (p.Val681Gly) c.1961T>G (p.Val654Gly) c.1910T>G (p.Val637Gly) | dbSNP |
| 14 | g.33800199T= | CA2128327063 | NPAS3 | c.1892T= (p.Val631=) c.1901T= (p.Val634=) c.1792T= c.793+2618T= c.1796T= (p.Val599=) c.1853T= (p.Val618=) c.1802T= (p.Val601=) c.1907T= (p.Val636=) c.1814T= (p.Val605=) c.1913T= (p.Val638=) c.1943T= (p.Val648=) c.1934T= (p.Val645=) c.1904T= (p.Val635=) c.1847T= (p.Val616=) c.1793T= (p.Val598=) c.1586T= (p.Val529=) c.2000T= (p.Val667=) c.1994T= (p.Val665=) c.1991T= (p.Val664=) c.2051T= (p.Val684=) c.2042T= (p.Val681=) c.1961T= (p.Val654=) c.1910T= (p.Val637=) | |
| 14 | g.33800200G>A | CA486092901 | NPAS3 | c.1893G>A (p.Val631=) c.1902G>A (p.Val634=) c.1793G>A c.793+2619G>A c.1797G>A (p.Val599=) c.1854G>A (p.Val618=) c.1803G>A (p.Val601=) c.1908G>A (p.Val636=) c.1815G>A (p.Val605=) c.1914G>A (p.Val638=) c.1944G>A (p.Val648=) c.1935G>A (p.Val645=) c.1905G>A (p.Val635=) c.1848G>A (p.Val616=) c.1794G>A (p.Val598=) c.1587G>A (p.Val529=) c.2001G>A (p.Val667=) c.1995G>A (p.Val665=) c.1992G>A (p.Val664=) c.2052G>A (p.Val684=) c.2043G>A (p.Val681=) c.1962G>A (p.Val654=) c.1911G>A (p.Val637=) | gnomAD v4 |
| 14 | g.33800200G>C | CA486092902 | NPAS3 | c.1893G>C (p.Val631=) c.1902G>C (p.Val634=) c.1793G>C c.793+2619G>C c.1797G>C (p.Val599=) c.1854G>C (p.Val618=) c.1803G>C (p.Val601=) c.1908G>C (p.Val636=) c.1815G>C (p.Val605=) c.1914G>C (p.Val638=) c.1944G>C (p.Val648=) c.1935G>C (p.Val645=) c.1905G>C (p.Val635=) c.1848G>C (p.Val616=) c.1794G>C (p.Val598=) c.1587G>C (p.Val529=) c.2001G>C (p.Val667=) c.1995G>C (p.Val665=) c.1992G>C (p.Val664=) c.2052G>C (p.Val684=) c.2043G>C (p.Val681=) c.1962G>C (p.Val654=) c.1911G>C (p.Val637=) | |
| 14 | g.33800200G>T | CA486092903 | NPAS3 | c.1893G>T (p.Val631=) c.1902G>T (p.Val634=) c.1793G>T c.793+2619G>T c.1797G>T (p.Val599=) c.1854G>T (p.Val618=) c.1803G>T (p.Val601=) c.1908G>T (p.Val636=) c.1815G>T (p.Val605=) c.1914G>T (p.Val638=) c.1944G>T (p.Val648=) c.1935G>T (p.Val645=) c.1905G>T (p.Val635=) c.1848G>T (p.Val616=) c.1794G>T (p.Val598=) c.1587G>T (p.Val529=) c.2001G>T (p.Val667=) c.1995G>T (p.Val665=) c.1992G>T (p.Val664=) c.2052G>T (p.Val684=) c.2043G>T (p.Val681=) c.1962G>T (p.Val654=) c.1911G>T (p.Val637=) | |
| 14 | g.33800201G>A | CA389413000 | NPAS3 | c.1894G>A (p.Glu632Lys) c.1903G>A (p.Glu635Lys) c.1794G>A c.793+2620G>A c.1798G>A (p.Glu600Lys) c.1855G>A (p.Glu619Lys) c.1804G>A (p.Glu602Lys) c.1909G>A (p.Glu637Lys) c.1816G>A (p.Glu606Lys) c.1915G>A (p.Glu639Lys) c.1945G>A (p.Glu649Lys) c.1936G>A (p.Glu646Lys) c.1906G>A (p.Glu636Lys) c.1849G>A (p.Glu617Lys) c.1795G>A (p.Glu599Lys) c.1588G>A (p.Glu530Lys) c.2002G>A (p.Glu668Lys) c.1996G>A (p.Glu666Lys) c.1993G>A (p.Glu665Lys) c.2053G>A (p.Glu685Lys) c.2044G>A (p.Glu682Lys) c.1963G>A (p.Glu655Lys) c.1912G>A (p.Glu638Lys) | |
| 14 | g.33800201G>C | CA389413002 | NPAS3 | c.1894G>C (p.Glu632Gln) c.1903G>C (p.Glu635Gln) c.1794G>C c.793+2620G>C c.1798G>C (p.Glu600Gln) c.1855G>C (p.Glu619Gln) c.1804G>C (p.Glu602Gln) c.1909G>C (p.Glu637Gln) c.1816G>C (p.Glu606Gln) c.1915G>C (p.Glu639Gln) c.1945G>C (p.Glu649Gln) c.1936G>C (p.Glu646Gln) c.1906G>C (p.Glu636Gln) c.1849G>C (p.Glu617Gln) c.1795G>C (p.Glu599Gln) c.1588G>C (p.Glu530Gln) c.2002G>C (p.Glu668Gln) c.1996G>C (p.Glu666Gln) c.1993G>C (p.Glu665Gln) c.2053G>C (p.Glu685Gln) c.2044G>C (p.Glu682Gln) c.1963G>C (p.Glu655Gln) c.1912G>C (p.Glu638Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800201G= | CA2128327066 | NPAS3 | c.1894G= (p.Glu632=) c.1903G= (p.Glu635=) c.1794G= c.793+2620G= c.1798G= (p.Glu600=) c.1855G= (p.Glu619=) c.1804G= (p.Glu602=) c.1909G= (p.Glu637=) c.1816G= (p.Glu606=) c.1915G= (p.Glu639=) c.1945G= (p.Glu649=) c.1936G= (p.Glu646=) c.1906G= (p.Glu636=) c.1849G= (p.Glu617=) c.1795G= (p.Glu599=) c.1588G= (p.Glu530=) c.2002G= (p.Glu668=) c.1996G= (p.Glu666=) c.1993G= (p.Glu665=) c.2053G= (p.Glu685=) c.2044G= (p.Glu682=) c.1963G= (p.Glu655=) c.1912G= (p.Glu638=) | |
| 14 | g.33800201G>T | CA389413004 | NPAS3 | c.1894G>T (p.Glu632Ter) c.1903G>T (p.Glu635Ter) c.1794G>T c.793+2620G>T c.1798G>T (p.Glu600Ter) c.1855G>T (p.Glu619Ter) c.1804G>T (p.Glu602Ter) c.1909G>T (p.Glu637Ter) c.1816G>T (p.Glu606Ter) c.1915G>T (p.Glu639Ter) c.1945G>T (p.Glu649Ter) c.1936G>T (p.Glu646Ter) c.1906G>T (p.Glu636Ter) c.1849G>T (p.Glu617Ter) c.1795G>T (p.Glu599Ter) c.1588G>T (p.Glu530Ter) c.2002G>T (p.Glu668Ter) c.1996G>T (p.Glu666Ter) c.1993G>T (p.Glu665Ter) c.2053G>T (p.Glu685Ter) c.2044G>T (p.Glu682Ter) c.1963G>T (p.Glu655Ter) c.1912G>T (p.Glu638Ter) | |
| 14 | g.33800202A>C | CA389413008 | NPAS3 | c.1895A>C (p.Glu632Ala) c.1904A>C (p.Glu635Ala) c.1795A>C c.793+2621A>C c.1799A>C (p.Glu600Ala) c.1856A>C (p.Glu619Ala) c.1805A>C (p.Glu602Ala) c.1910A>C (p.Glu637Ala) c.1817A>C (p.Glu606Ala) c.1916A>C (p.Glu639Ala) c.1946A>C (p.Glu649Ala) c.1937A>C (p.Glu646Ala) c.1907A>C (p.Glu636Ala) c.1850A>C (p.Glu617Ala) c.1796A>C (p.Glu599Ala) c.1589A>C (p.Glu530Ala) c.2003A>C (p.Glu668Ala) c.1997A>C (p.Glu666Ala) c.1994A>C (p.Glu665Ala) c.2054A>C (p.Glu685Ala) c.2045A>C (p.Glu682Ala) c.1964A>C (p.Glu655Ala) c.1913A>C (p.Glu638Ala) | |
| 14 | g.33800202A>G | CA389413010 | NPAS3 | c.1895A>G (p.Glu632Gly) c.1904A>G (p.Glu635Gly) c.1795A>G c.793+2621A>G c.1799A>G (p.Glu600Gly) c.1856A>G (p.Glu619Gly) c.1805A>G (p.Glu602Gly) c.1910A>G (p.Glu637Gly) c.1817A>G (p.Glu606Gly) c.1916A>G (p.Glu639Gly) c.1946A>G (p.Glu649Gly) c.1937A>G (p.Glu646Gly) c.1907A>G (p.Glu636Gly) c.1850A>G (p.Glu617Gly) c.1796A>G (p.Glu599Gly) c.1589A>G (p.Glu530Gly) c.2003A>G (p.Glu668Gly) c.1997A>G (p.Glu666Gly) c.1994A>G (p.Glu665Gly) c.2054A>G (p.Glu685Gly) c.2045A>G (p.Glu682Gly) c.1964A>G (p.Glu655Gly) c.1913A>G (p.Glu638Gly) | |
| 14 | g.33800202A>T | CA389413006 | NPAS3 | c.1895A>T (p.Glu632Val) c.1904A>T (p.Glu635Val) c.1795A>T c.793+2621A>T c.1799A>T (p.Glu600Val) c.1856A>T (p.Glu619Val) c.1805A>T (p.Glu602Val) c.1910A>T (p.Glu637Val) c.1817A>T (p.Glu606Val) c.1916A>T (p.Glu639Val) c.1946A>T (p.Glu649Val) c.1937A>T (p.Glu646Val) c.1907A>T (p.Glu636Val) c.1850A>T (p.Glu617Val) c.1796A>T (p.Glu599Val) c.1589A>T (p.Glu530Val) c.2003A>T (p.Glu668Val) c.1997A>T (p.Glu666Val) c.1994A>T (p.Glu665Val) c.2054A>T (p.Glu685Val) c.2045A>T (p.Glu682Val) c.1964A>T (p.Glu655Val) c.1913A>T (p.Glu638Val) | |
| 14 | g.33800203del | CA2590793620 | NPAS3 | c.1896del (p.Glu632AspfsTer?) c.1905del (p.Glu635AspfsTer?) c.1796del c.793+2622del c.1800del (p.Glu600AspfsTer?) c.1857del (p.Glu619AspfsTer?) c.1806del (p.Glu602AspfsTer?) c.1911del (p.Glu637AspfsTer?) c.1818del (p.Glu606AspfsTer?) c.1917del (p.Glu639AspfsTer?) c.1947del (p.Glu649AspfsTer?) c.1938del (p.Glu646AspfsTer?) c.1908del (p.Glu636AspfsTer?) c.1851del (p.Glu617AspfsTer?) c.1797del (p.Glu599AspfsTer?) c.1590del (p.Glu530AspfsTer?) c.2004del (p.Glu668AspfsTer?) c.1998del (p.Glu666AspfsTer?) c.1995del (p.Glu665AspfsTer?) c.2055del (p.Glu685AspfsTer?) c.2046del (p.Glu682AspfsTer?) c.1965del (p.Glu655AspfsTer?) c.1914del (p.Glu638AspfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800203G>A | CA486092905 | NPAS3 | c.1896G>A (p.Glu632=) c.1905G>A (p.Glu635=) c.1796G>A c.793+2622G>A c.1800G>A (p.Glu600=) c.1857G>A (p.Glu619=) c.1806G>A (p.Glu602=) c.1911G>A (p.Glu637=) c.1818G>A (p.Glu606=) c.1917G>A (p.Glu639=) c.1947G>A (p.Glu649=) c.1938G>A (p.Glu646=) c.1908G>A (p.Glu636=) c.1851G>A (p.Glu617=) c.1797G>A (p.Glu599=) c.1590G>A (p.Glu530=) c.2004G>A (p.Glu668=) c.1998G>A (p.Glu666=) c.1995G>A (p.Glu665=) c.2055G>A (p.Glu685=) c.2046G>A (p.Glu682=) c.1965G>A (p.Glu655=) c.1914G>A (p.Glu638=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800203G>C | CA389413014 | NPAS3 | c.1896G>C (p.Glu632Asp) c.1905G>C (p.Glu635Asp) c.1796G>C c.793+2622G>C c.1800G>C (p.Glu600Asp) c.1857G>C (p.Glu619Asp) c.1806G>C (p.Glu602Asp) c.1911G>C (p.Glu637Asp) c.1818G>C (p.Glu606Asp) c.1917G>C (p.Glu639Asp) c.1947G>C (p.Glu649Asp) c.1938G>C (p.Glu646Asp) c.1908G>C (p.Glu636Asp) c.1851G>C (p.Glu617Asp) c.1797G>C (p.Glu599Asp) c.1590G>C (p.Glu530Asp) c.2004G>C (p.Glu668Asp) c.1998G>C (p.Glu666Asp) c.1995G>C (p.Glu665Asp) c.2055G>C (p.Glu685Asp) c.2046G>C (p.Glu682Asp) c.1965G>C (p.Glu655Asp) c.1914G>C (p.Glu638Asp) | |
| 14 | g.33800203G= | CA2128327069 | NPAS3 | c.1896G= (p.Glu632=) c.1905G= (p.Glu635=) c.1796G= c.793+2622G= c.1800G= (p.Glu600=) c.1857G= (p.Glu619=) c.1806G= (p.Glu602=) c.1911G= (p.Glu637=) c.1818G= (p.Glu606=) c.1917G= (p.Glu639=) c.1947G= (p.Glu649=) c.1938G= (p.Glu646=) c.1908G= (p.Glu636=) c.1851G= (p.Glu617=) c.1797G= (p.Glu599=) c.1590G= (p.Glu530=) c.2004G= (p.Glu668=) c.1998G= (p.Glu666=) c.1995G= (p.Glu665=) c.2055G= (p.Glu685=) c.2046G= (p.Glu682=) c.1965G= (p.Glu655=) c.1914G= (p.Glu638=) | |
| 14 | g.33800203G>T | CA389413012 | NPAS3 | c.1896G>T (p.Glu632Asp) c.1905G>T (p.Glu635Asp) c.1796G>T c.793+2622G>T c.1800G>T (p.Glu600Asp) c.1857G>T (p.Glu619Asp) c.1806G>T (p.Glu602Asp) c.1911G>T (p.Glu637Asp) c.1818G>T (p.Glu606Asp) c.1917G>T (p.Glu639Asp) c.1947G>T (p.Glu649Asp) c.1938G>T (p.Glu646Asp) c.1908G>T (p.Glu636Asp) c.1851G>T (p.Glu617Asp) c.1797G>T (p.Glu599Asp) c.1590G>T (p.Glu530Asp) c.2004G>T (p.Glu668Asp) c.1998G>T (p.Glu666Asp) c.1995G>T (p.Glu665Asp) c.2055G>T (p.Glu685Asp) c.2046G>T (p.Glu682Asp) c.1965G>T (p.Glu655Asp) c.1914G>T (p.Glu638Asp) | |
| 14 | g.33800204C>A | CA389413016 | NPAS3 | c.1897C>A (p.Pro633Thr) c.1906C>A (p.Pro636Thr) c.1797C>A c.793+2623C>A c.1801C>A (p.Pro601Thr) c.1858C>A (p.Pro620Thr) c.1807C>A (p.Pro603Thr) c.1912C>A (p.Pro638Thr) c.1819C>A (p.Pro607Thr) c.1918C>A (p.Pro640Thr) c.1948C>A (p.Pro650Thr) c.1939C>A (p.Pro647Thr) c.1909C>A (p.Pro637Thr) c.1852C>A (p.Pro618Thr) c.1798C>A (p.Pro600Thr) c.1591C>A (p.Pro531Thr) c.2005C>A (p.Pro669Thr) c.1999C>A (p.Pro667Thr) c.1996C>A (p.Pro666Thr) c.2056C>A (p.Pro686Thr) c.2047C>A (p.Pro683Thr) c.1966C>A (p.Pro656Thr) c.1915C>A (p.Pro639Thr) | |
| 14 | g.33800204C>G | CA389413018 | NPAS3 | c.1897C>G (p.Pro633Ala) c.1906C>G (p.Pro636Ala) c.1797C>G c.793+2623C>G c.1801C>G (p.Pro601Ala) c.1858C>G (p.Pro620Ala) c.1807C>G (p.Pro603Ala) c.1912C>G (p.Pro638Ala) c.1819C>G (p.Pro607Ala) c.1918C>G (p.Pro640Ala) c.1948C>G (p.Pro650Ala) c.1939C>G (p.Pro647Ala) c.1909C>G (p.Pro637Ala) c.1852C>G (p.Pro618Ala) c.1798C>G (p.Pro600Ala) c.1591C>G (p.Pro531Ala) c.2005C>G (p.Pro669Ala) c.1999C>G (p.Pro667Ala) c.1996C>G (p.Pro666Ala) c.2056C>G (p.Pro686Ala) c.2047C>G (p.Pro683Ala) c.1966C>G (p.Pro656Ala) c.1915C>G (p.Pro639Ala) | |
| 14 | g.33800204C>T | CA389413020 | NPAS3 | c.1897C>T (p.Pro633Ser) c.1906C>T (p.Pro636Ser) c.1797C>T c.793+2623C>T c.1801C>T (p.Pro601Ser) c.1858C>T (p.Pro620Ser) c.1807C>T (p.Pro603Ser) c.1912C>T (p.Pro638Ser) c.1819C>T (p.Pro607Ser) c.1918C>T (p.Pro640Ser) c.1948C>T (p.Pro650Ser) c.1939C>T (p.Pro647Ser) c.1909C>T (p.Pro637Ser) c.1852C>T (p.Pro618Ser) c.1798C>T (p.Pro600Ser) c.1591C>T (p.Pro531Ser) c.2005C>T (p.Pro669Ser) c.1999C>T (p.Pro667Ser) c.1996C>T (p.Pro666Ser) c.2056C>T (p.Pro686Ser) c.2047C>T (p.Pro683Ser) c.1966C>T (p.Pro656Ser) c.1915C>T (p.Pro639Ser) | COSMIC COSMIC COSMIC |
| 14 | g.33800208dup | CA2832561242 | NPAS3 | c.1901dup (p.Arg635AlafsTer27) c.1910dup (p.Arg638AlafsTer27) c.1801dup c.793+2627dup c.1805dup (p.Arg603AlafsTer27) c.1862dup (p.Arg622AlafsTer27) c.1811dup (p.Arg605AlafsTer27) c.1916dup (p.Arg640AlafsTer27) c.1823dup (p.Arg609AlafsTer27) c.1922dup (p.Arg642AlafsTer27) c.1952dup (p.Arg652AlafsTer27) c.1943dup (p.Arg649AlafsTer27) c.1913dup (p.Arg639AlafsTer27) c.1856dup (p.Arg620AlafsTer27) c.1802dup (p.Arg602AlafsTer27) c.1595dup (p.Arg533AlafsTer27) c.2009dup (p.Arg671AlafsTer27) c.2003dup (p.Arg669AlafsTer27) c.2000dup (p.Arg668AlafsTer27) c.2060dup (p.Arg688AlafsTer27) c.2051dup (p.Arg685AlafsTer27) c.1970dup (p.Arg658AlafsTer27) c.1919dup (p.Arg641AlafsTer27) | |
| 14 | g.33800208del | CA2624512028 | NPAS3 | c.1901del (p.Pro634ArgfsTer?) c.1910del (p.Pro637ArgfsTer?) c.1801del c.793+2627del c.1805del (p.Pro602ArgfsTer?) c.1862del (p.Pro621ArgfsTer?) c.1811del (p.Pro604ArgfsTer?) c.1916del (p.Pro639ArgfsTer?) c.1823del (p.Pro608ArgfsTer?) c.1922del (p.Pro641ArgfsTer?) c.1952del (p.Pro651ArgfsTer?) c.1943del (p.Pro648ArgfsTer?) c.1913del (p.Pro638ArgfsTer?) c.1856del (p.Pro619ArgfsTer?) c.1802del (p.Pro601ArgfsTer?) c.1595del (p.Pro532ArgfsTer?) c.2009del (p.Pro670ArgfsTer?) c.2003del (p.Pro668ArgfsTer?) c.2000del (p.Pro667ArgfsTer?) c.2060del (p.Pro687ArgfsTer?) c.2051del (p.Pro684ArgfsTer?) c.1970del (p.Pro657ArgfsTer?) c.1919del (p.Pro640ArgfsTer?) | gnomAD v4 |
| 14 | g.33800205C>A | CA389413022 | NPAS3 | c.1898C>A (p.Pro633His) c.1907C>A (p.Pro636His) c.1798C>A c.793+2624C>A c.1802C>A (p.Pro601His) c.1859C>A (p.Pro620His) c.1808C>A (p.Pro603His) c.1913C>A (p.Pro638His) c.1820C>A (p.Pro607His) c.1919C>A (p.Pro640His) c.1949C>A (p.Pro650His) c.1940C>A (p.Pro647His) c.1910C>A (p.Pro637His) c.1853C>A (p.Pro618His) c.1799C>A (p.Pro600His) c.1592C>A (p.Pro531His) c.2006C>A (p.Pro669His) c.2000C>A (p.Pro667His) c.1997C>A (p.Pro666His) c.2057C>A (p.Pro686His) c.2048C>A (p.Pro683His) c.1967C>A (p.Pro656His) c.1916C>A (p.Pro639His) | COSMIC COSMIC COSMIC |
| 14 | g.33800205C>G | CA389413024 | NPAS3 | c.1898C>G (p.Pro633Arg) c.1907C>G (p.Pro636Arg) c.1798C>G c.793+2624C>G c.1802C>G (p.Pro601Arg) c.1859C>G (p.Pro620Arg) c.1808C>G (p.Pro603Arg) c.1913C>G (p.Pro638Arg) c.1820C>G (p.Pro607Arg) c.1919C>G (p.Pro640Arg) c.1949C>G (p.Pro650Arg) c.1940C>G (p.Pro647Arg) c.1910C>G (p.Pro637Arg) c.1853C>G (p.Pro618Arg) c.1799C>G (p.Pro600Arg) c.1592C>G (p.Pro531Arg) c.2006C>G (p.Pro669Arg) c.2000C>G (p.Pro667Arg) c.1997C>G (p.Pro666Arg) c.2057C>G (p.Pro686Arg) c.2048C>G (p.Pro683Arg) c.1967C>G (p.Pro656Arg) c.1916C>G (p.Pro639Arg) | |
| 14 | g.33800205C>T | CA389413026 | NPAS3 | c.1898C>T (p.Pro633Leu) c.1907C>T (p.Pro636Leu) c.1798C>T c.793+2624C>T c.1802C>T (p.Pro601Leu) c.1859C>T (p.Pro620Leu) c.1808C>T (p.Pro603Leu) c.1913C>T (p.Pro638Leu) c.1820C>T (p.Pro607Leu) c.1919C>T (p.Pro640Leu) c.1949C>T (p.Pro650Leu) c.1940C>T (p.Pro647Leu) c.1910C>T (p.Pro637Leu) c.1853C>T (p.Pro618Leu) c.1799C>T (p.Pro600Leu) c.1592C>T (p.Pro531Leu) c.2006C>T (p.Pro669Leu) c.2000C>T (p.Pro667Leu) c.1997C>T (p.Pro666Leu) c.2057C>T (p.Pro686Leu) c.2048C>T (p.Pro683Leu) c.1967C>T (p.Pro656Leu) c.1916C>T (p.Pro639Leu) | |
| 14 | g.33800206C>A | CA486092906 | NPAS3 | c.1899C>A (p.Pro633=) c.1908C>A (p.Pro636=) c.1799C>A c.793+2625C>A c.1803C>A (p.Pro601=) c.1860C>A (p.Pro620=) c.1809C>A (p.Pro603=) c.1914C>A (p.Pro638=) c.1821C>A (p.Pro607=) c.1920C>A (p.Pro640=) c.1950C>A (p.Pro650=) c.1941C>A (p.Pro647=) c.1911C>A (p.Pro637=) c.1854C>A (p.Pro618=) c.1800C>A (p.Pro600=) c.1593C>A (p.Pro531=) c.2007C>A (p.Pro669=) c.2001C>A (p.Pro667=) c.1998C>A (p.Pro666=) c.2058C>A (p.Pro686=) c.2049C>A (p.Pro683=) c.1968C>A (p.Pro656=) c.1917C>A (p.Pro639=) | |
| 14 | g.33800206C>G | CA486092907 | NPAS3 | c.1899C>G (p.Pro633=) c.1908C>G (p.Pro636=) c.1799C>G c.793+2625C>G c.1803C>G (p.Pro601=) c.1860C>G (p.Pro620=) c.1809C>G (p.Pro603=) c.1914C>G (p.Pro638=) c.1821C>G (p.Pro607=) c.1920C>G (p.Pro640=) c.1950C>G (p.Pro650=) c.1941C>G (p.Pro647=) c.1911C>G (p.Pro637=) c.1854C>G (p.Pro618=) c.1800C>G (p.Pro600=) c.1593C>G (p.Pro531=) c.2007C>G (p.Pro669=) c.2001C>G (p.Pro667=) c.1998C>G (p.Pro666=) c.2058C>G (p.Pro686=) c.2049C>G (p.Pro683=) c.1968C>G (p.Pro656=) c.1917C>G (p.Pro639=) | |
| 14 | g.33800206C>T | CA486092909 | NPAS3 | c.1899C>T (p.Pro633=) c.1908C>T (p.Pro636=) c.1799C>T c.793+2625C>T c.1803C>T (p.Pro601=) c.1860C>T (p.Pro620=) c.1809C>T (p.Pro603=) c.1914C>T (p.Pro638=) c.1821C>T (p.Pro607=) c.1920C>T (p.Pro640=) c.1950C>T (p.Pro650=) c.1941C>T (p.Pro647=) c.1911C>T (p.Pro637=) c.1854C>T (p.Pro618=) c.1800C>T (p.Pro600=) c.1593C>T (p.Pro531=) c.2007C>T (p.Pro669=) c.2001C>T (p.Pro667=) c.1998C>T (p.Pro666=) c.2058C>T (p.Pro686=) c.2049C>T (p.Pro683=) c.1968C>T (p.Pro656=) c.1917C>T (p.Pro639=) | |
| 14 | g.33800207C>A | CA389413029 | NPAS3 | c.1900C>A (p.Pro634Thr) c.1909C>A (p.Pro637Thr) c.1800C>A c.793+2626C>A c.1804C>A (p.Pro602Thr) c.1861C>A (p.Pro621Thr) c.1810C>A (p.Pro604Thr) c.1915C>A (p.Pro639Thr) c.1822C>A (p.Pro608Thr) c.1921C>A (p.Pro641Thr) c.1951C>A (p.Pro651Thr) c.1942C>A (p.Pro648Thr) c.1912C>A (p.Pro638Thr) c.1855C>A (p.Pro619Thr) c.1801C>A (p.Pro601Thr) c.1594C>A (p.Pro532Thr) c.2008C>A (p.Pro670Thr) c.2002C>A (p.Pro668Thr) c.1999C>A (p.Pro667Thr) c.2059C>A (p.Pro687Thr) c.2050C>A (p.Pro684Thr) c.1969C>A (p.Pro657Thr) c.1918C>A (p.Pro640Thr) | |
| 14 | g.33800207C= | CA2128327072 | NPAS3 | c.1900C= (p.Pro634=) c.1909C= (p.Pro637=) c.1800C= c.793+2626C= c.1804C= (p.Pro602=) c.1861C= (p.Pro621=) c.1810C= (p.Pro604=) c.1915C= (p.Pro639=) c.1822C= (p.Pro608=) c.1921C= (p.Pro641=) c.1951C= (p.Pro651=) c.1942C= (p.Pro648=) c.1912C= (p.Pro638=) c.1855C= (p.Pro619=) c.1801C= (p.Pro601=) c.1594C= (p.Pro532=) c.2008C= (p.Pro670=) c.2002C= (p.Pro668=) c.1999C= (p.Pro667=) c.2059C= (p.Pro687=) c.2050C= (p.Pro684=) c.1969C= (p.Pro657=) c.1918C= (p.Pro640=) | |
| 14 | g.33800207C>G | CA389413030 | NPAS3 | c.1900C>G (p.Pro634Ala) c.1909C>G (p.Pro637Ala) c.1800C>G c.793+2626C>G c.1804C>G (p.Pro602Ala) c.1861C>G (p.Pro621Ala) c.1810C>G (p.Pro604Ala) c.1915C>G (p.Pro639Ala) c.1822C>G (p.Pro608Ala) c.1921C>G (p.Pro641Ala) c.1951C>G (p.Pro651Ala) c.1942C>G (p.Pro648Ala) c.1912C>G (p.Pro638Ala) c.1855C>G (p.Pro619Ala) c.1801C>G (p.Pro601Ala) c.1594C>G (p.Pro532Ala) c.2008C>G (p.Pro670Ala) c.2002C>G (p.Pro668Ala) c.1999C>G (p.Pro667Ala) c.2059C>G (p.Pro687Ala) c.2050C>G (p.Pro684Ala) c.1969C>G (p.Pro657Ala) c.1918C>G (p.Pro640Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800207C>T | CA389413032 | NPAS3 | c.1900C>T (p.Pro634Ser) c.1909C>T (p.Pro637Ser) c.1800C>T c.793+2626C>T c.1804C>T (p.Pro602Ser) c.1861C>T (p.Pro621Ser) c.1810C>T (p.Pro604Ser) c.1915C>T (p.Pro639Ser) c.1822C>T (p.Pro608Ser) c.1921C>T (p.Pro641Ser) c.1951C>T (p.Pro651Ser) c.1942C>T (p.Pro648Ser) c.1912C>T (p.Pro638Ser) c.1855C>T (p.Pro619Ser) c.1801C>T (p.Pro601Ser) c.1594C>T (p.Pro532Ser) c.2008C>T (p.Pro670Ser) c.2002C>T (p.Pro668Ser) c.1999C>T (p.Pro667Ser) c.2059C>T (p.Pro687Ser) c.2050C>T (p.Pro684Ser) c.1969C>T (p.Pro657Ser) c.1918C>T (p.Pro640Ser) | |
| 14 | g.33800208C>A | CA389413034 | NPAS3 | c.1901C>A (p.Pro634Gln) c.1910C>A (p.Pro637Gln) c.1801C>A c.793+2627C>A c.1805C>A (p.Pro602Gln) c.1862C>A (p.Pro621Gln) c.1811C>A (p.Pro604Gln) c.1916C>A (p.Pro639Gln) c.1823C>A (p.Pro608Gln) c.1922C>A (p.Pro641Gln) c.1952C>A (p.Pro651Gln) c.1943C>A (p.Pro648Gln) c.1913C>A (p.Pro638Gln) c.1856C>A (p.Pro619Gln) c.1802C>A (p.Pro601Gln) c.1595C>A (p.Pro532Gln) c.2009C>A (p.Pro670Gln) c.2003C>A (p.Pro668Gln) c.2000C>A (p.Pro667Gln) c.2060C>A (p.Pro687Gln) c.2051C>A (p.Pro684Gln) c.1970C>A (p.Pro657Gln) c.1919C>A (p.Pro640Gln) | gnomAD v4 |
| 14 | g.33800208C= | CA2128327075 | NPAS3 | c.1901C= (p.Pro634=) c.1910C= (p.Pro637=) c.1801C= c.793+2627C= c.1805C= (p.Pro602=) c.1862C= (p.Pro621=) c.1811C= (p.Pro604=) c.1916C= (p.Pro639=) c.1823C= (p.Pro608=) c.1922C= (p.Pro641=) c.1952C= (p.Pro651=) c.1943C= (p.Pro648=) c.1913C= (p.Pro638=) c.1856C= (p.Pro619=) c.1802C= (p.Pro601=) c.1595C= (p.Pro532=) c.2009C= (p.Pro670=) c.2003C= (p.Pro668=) c.2000C= (p.Pro667=) c.2060C= (p.Pro687=) c.2051C= (p.Pro684=) c.1970C= (p.Pro657=) c.1919C= (p.Pro640=) | |
| 14 | g.33800208C>G | CA389413036 | NPAS3 | c.1901C>G (p.Pro634Arg) c.1910C>G (p.Pro637Arg) c.1801C>G c.793+2627C>G c.1805C>G (p.Pro602Arg) c.1862C>G (p.Pro621Arg) c.1811C>G (p.Pro604Arg) c.1916C>G (p.Pro639Arg) c.1823C>G (p.Pro608Arg) c.1922C>G (p.Pro641Arg) c.1952C>G (p.Pro651Arg) c.1943C>G (p.Pro648Arg) c.1913C>G (p.Pro638Arg) c.1856C>G (p.Pro619Arg) c.1802C>G (p.Pro601Arg) c.1595C>G (p.Pro532Arg) c.2009C>G (p.Pro670Arg) c.2003C>G (p.Pro668Arg) c.2000C>G (p.Pro667Arg) c.2060C>G (p.Pro687Arg) c.2051C>G (p.Pro684Arg) c.1970C>G (p.Pro657Arg) c.1919C>G (p.Pro640Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800208C>T | CA389413038 | NPAS3 | c.1901C>T (p.Pro634Leu) c.1910C>T (p.Pro637Leu) c.1801C>T c.793+2627C>T c.1805C>T (p.Pro602Leu) c.1862C>T (p.Pro621Leu) c.1811C>T (p.Pro604Leu) c.1916C>T (p.Pro639Leu) c.1823C>T (p.Pro608Leu) c.1922C>T (p.Pro641Leu) c.1952C>T (p.Pro651Leu) c.1943C>T (p.Pro648Leu) c.1913C>T (p.Pro638Leu) c.1856C>T (p.Pro619Leu) c.1802C>T (p.Pro601Leu) c.1595C>T (p.Pro532Leu) c.2009C>T (p.Pro670Leu) c.2003C>T (p.Pro668Leu) c.2000C>T (p.Pro667Leu) c.2060C>T (p.Pro687Leu) c.2051C>T (p.Pro684Leu) c.1970C>T (p.Pro657Leu) c.1919C>T (p.Pro640Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.33800209G>A | CA7150905 | NPAS3 | c.1902G>A (p.Pro634=) c.1911G>A (p.Pro637=) c.1802G>A c.793+2628G>A c.1806G>A (p.Pro602=) c.1863G>A (p.Pro621=) c.1812G>A (p.Pro604=) c.1917G>A (p.Pro639=) c.1824G>A (p.Pro608=) c.1923G>A (p.Pro641=) c.1953G>A (p.Pro651=) c.1944G>A (p.Pro648=) c.1914G>A (p.Pro638=) c.1857G>A (p.Pro619=) c.1803G>A (p.Pro601=) c.1596G>A (p.Pro532=) c.2010G>A (p.Pro670=) c.2004G>A (p.Pro668=) c.2001G>A (p.Pro667=) c.2061G>A (p.Pro687=) c.2052G>A (p.Pro684=) c.1971G>A (p.Pro657=) c.1920G>A (p.Pro640=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800209G>C | CA486092910 | NPAS3 | c.1902G>C (p.Pro634=) c.1911G>C (p.Pro637=) c.1802G>C c.793+2628G>C c.1806G>C (p.Pro602=) c.1863G>C (p.Pro621=) c.1812G>C (p.Pro604=) c.1917G>C (p.Pro639=) c.1824G>C (p.Pro608=) c.1923G>C (p.Pro641=) c.1953G>C (p.Pro651=) c.1944G>C (p.Pro648=) c.1914G>C (p.Pro638=) c.1857G>C (p.Pro619=) c.1803G>C (p.Pro601=) c.1596G>C (p.Pro532=) c.2010G>C (p.Pro670=) c.2004G>C (p.Pro668=) c.2001G>C (p.Pro667=) c.2061G>C (p.Pro687=) c.2052G>C (p.Pro684=) c.1971G>C (p.Pro657=) c.1920G>C (p.Pro640=) | |
| 14 | g.33800209G= | CA2128327080 | NPAS3 | c.1902G= (p.Pro634=) c.1911G= (p.Pro637=) c.1802G= c.793+2628G= c.1806G= (p.Pro602=) c.1863G= (p.Pro621=) c.1812G= (p.Pro604=) c.1917G= (p.Pro639=) c.1824G= (p.Pro608=) c.1923G= (p.Pro641=) c.1953G= (p.Pro651=) c.1944G= (p.Pro648=) c.1914G= (p.Pro638=) c.1857G= (p.Pro619=) c.1803G= (p.Pro601=) c.1596G= (p.Pro532=) c.2010G= (p.Pro670=) c.2004G= (p.Pro668=) c.2001G= (p.Pro667=) c.2061G= (p.Pro687=) c.2052G= (p.Pro684=) c.1971G= (p.Pro657=) c.1920G= (p.Pro640=) | |
| 14 | g.33800209G>T | CA486092911 | NPAS3 | c.1902G>T (p.Pro634=) c.1911G>T (p.Pro637=) c.1802G>T c.793+2628G>T c.1806G>T (p.Pro602=) c.1863G>T (p.Pro621=) c.1812G>T (p.Pro604=) c.1917G>T (p.Pro639=) c.1824G>T (p.Pro608=) c.1923G>T (p.Pro641=) c.1953G>T (p.Pro651=) c.1944G>T (p.Pro648=) c.1914G>T (p.Pro638=) c.1857G>T (p.Pro619=) c.1803G>T (p.Pro601=) c.1596G>T (p.Pro532=) c.2010G>T (p.Pro670=) c.2004G>T (p.Pro668=) c.2001G>T (p.Pro667=) c.2061G>T (p.Pro687=) c.2052G>T (p.Pro684=) c.1971G>T (p.Pro657=) c.1920G>T (p.Pro640=) | |
| 14 | g.33800210C>A | CA486092912 | NPAS3 | c.1903C>A (p.Arg635=) c.1912C>A (p.Arg638=) c.1803C>A c.793+2629C>A c.1807C>A (p.Arg603=) c.1864C>A (p.Arg622=) c.1813C>A (p.Arg605=) c.1918C>A (p.Arg640=) c.1825C>A (p.Arg609=) c.1924C>A (p.Arg642=) c.1954C>A (p.Arg652=) c.1945C>A (p.Arg649=) c.1915C>A (p.Arg639=) c.1858C>A (p.Arg620=) c.1804C>A (p.Arg602=) c.1597C>A (p.Arg533=) c.2011C>A (p.Arg671=) c.2005C>A (p.Arg669=) c.2002C>A (p.Arg668=) c.2062C>A (p.Arg688=) c.2053C>A (p.Arg685=) c.1972C>A (p.Arg658=) c.1921C>A (p.Arg641=) | |
| 14 | g.33800210C>G | CA389413041 | NPAS3 | c.1903C>G (p.Arg635Gly) c.1912C>G (p.Arg638Gly) c.1803C>G c.793+2629C>G c.1807C>G (p.Arg603Gly) c.1864C>G (p.Arg622Gly) c.1813C>G (p.Arg605Gly) c.1918C>G (p.Arg640Gly) c.1825C>G (p.Arg609Gly) c.1924C>G (p.Arg642Gly) c.1954C>G (p.Arg652Gly) c.1945C>G (p.Arg649Gly) c.1915C>G (p.Arg639Gly) c.1858C>G (p.Arg620Gly) c.1804C>G (p.Arg602Gly) c.1597C>G (p.Arg533Gly) c.2011C>G (p.Arg671Gly) c.2005C>G (p.Arg669Gly) c.2002C>G (p.Arg668Gly) c.2062C>G (p.Arg688Gly) c.2053C>G (p.Arg685Gly) c.1972C>G (p.Arg658Gly) c.1921C>G (p.Arg641Gly) | |
| 14 | g.33800210C>T | CA389413042 | NPAS3 | c.1903C>T (p.Arg635Trp) c.1912C>T (p.Arg638Trp) c.1803C>T c.793+2629C>T c.1807C>T (p.Arg603Trp) c.1864C>T (p.Arg622Trp) c.1813C>T (p.Arg605Trp) c.1918C>T (p.Arg640Trp) c.1825C>T (p.Arg609Trp) c.1924C>T (p.Arg642Trp) c.1954C>T (p.Arg652Trp) c.1945C>T (p.Arg649Trp) c.1915C>T (p.Arg639Trp) c.1858C>T (p.Arg620Trp) c.1804C>T (p.Arg602Trp) c.1597C>T (p.Arg533Trp) c.2011C>T (p.Arg671Trp) c.2005C>T (p.Arg669Trp) c.2002C>T (p.Arg668Trp) c.2062C>T (p.Arg688Trp) c.2053C>T (p.Arg685Trp) c.1972C>T (p.Arg658Trp) c.1921C>T (p.Arg641Trp) | |
| 14 | g.33800211G>A | CA7150906 | NPAS3 | c.1904G>A (p.Arg635Gln) c.1913G>A (p.Arg638Gln) c.1804G>A c.793+2630G>A c.1808G>A (p.Arg603Gln) c.1865G>A (p.Arg622Gln) c.1814G>A (p.Arg605Gln) c.1919G>A (p.Arg640Gln) c.1826G>A (p.Arg609Gln) c.1925G>A (p.Arg642Gln) c.1955G>A (p.Arg652Gln) c.1946G>A (p.Arg649Gln) c.1916G>A (p.Arg639Gln) c.1859G>A (p.Arg620Gln) c.1805G>A (p.Arg602Gln) c.1598G>A (p.Arg533Gln) c.2012G>A (p.Arg671Gln) c.2006G>A (p.Arg669Gln) c.2003G>A (p.Arg668Gln) c.2063G>A (p.Arg688Gln) c.2054G>A (p.Arg685Gln) c.1973G>A (p.Arg658Gln) c.1922G>A (p.Arg641Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.33800211G>C | CA389413044 | NPAS3 | c.1904G>C (p.Arg635Pro) c.1913G>C (p.Arg638Pro) c.1804G>C c.793+2630G>C c.1808G>C (p.Arg603Pro) c.1865G>C (p.Arg622Pro) c.1814G>C (p.Arg605Pro) c.1919G>C (p.Arg640Pro) c.1826G>C (p.Arg609Pro) c.1925G>C (p.Arg642Pro) c.1955G>C (p.Arg652Pro) c.1946G>C (p.Arg649Pro) c.1916G>C (p.Arg639Pro) c.1859G>C (p.Arg620Pro) c.1805G>C (p.Arg602Pro) c.1598G>C (p.Arg533Pro) c.2012G>C (p.Arg671Pro) c.2006G>C (p.Arg669Pro) c.2003G>C (p.Arg668Pro) c.2063G>C (p.Arg688Pro) c.2054G>C (p.Arg685Pro) c.1973G>C (p.Arg658Pro) c.1922G>C (p.Arg641Pro) | |
| 14 | g.33800211G= | CA2128327083 | NPAS3 | c.1904G= (p.Arg635=) c.1913G= (p.Arg638=) c.1804G= c.793+2630G= c.1808G= (p.Arg603=) c.1865G= (p.Arg622=) c.1814G= (p.Arg605=) c.1919G= (p.Arg640=) c.1826G= (p.Arg609=) c.1925G= (p.Arg642=) c.1955G= (p.Arg652=) c.1946G= (p.Arg649=) c.1916G= (p.Arg639=) c.1859G= (p.Arg620=) c.1805G= (p.Arg602=) c.1598G= (p.Arg533=) c.2012G= (p.Arg671=) c.2006G= (p.Arg669=) c.2003G= (p.Arg668=) c.2063G= (p.Arg688=) c.2054G= (p.Arg685=) c.1973G= (p.Arg658=) c.1922G= (p.Arg641=) | |
| 14 | g.33800211G>T | CA389413045 | NPAS3 | c.1904G>T (p.Arg635Leu) c.1913G>T (p.Arg638Leu) c.1804G>T c.793+2630G>T c.1808G>T (p.Arg603Leu) c.1865G>T (p.Arg622Leu) c.1814G>T (p.Arg605Leu) c.1919G>T (p.Arg640Leu) c.1826G>T (p.Arg609Leu) c.1925G>T (p.Arg642Leu) c.1955G>T (p.Arg652Leu) c.1946G>T (p.Arg649Leu) c.1916G>T (p.Arg639Leu) c.1859G>T (p.Arg620Leu) c.1805G>T (p.Arg602Leu) c.1598G>T (p.Arg533Leu) c.2012G>T (p.Arg671Leu) c.2006G>T (p.Arg669Leu) c.2003G>T (p.Arg668Leu) c.2063G>T (p.Arg688Leu) c.2054G>T (p.Arg685Leu) c.1973G>T (p.Arg658Leu) c.1922G>T (p.Arg641Leu) | |
| 14 | g.33800212G>A | CA486092916 | NPAS3 | c.1905G>A (p.Arg635=) c.1914G>A (p.Arg638=) c.1805G>A c.793+2631G>A c.1809G>A (p.Arg603=) c.1866G>A (p.Arg622=) c.1815G>A (p.Arg605=) c.1920G>A (p.Arg640=) c.1827G>A (p.Arg609=) c.1926G>A (p.Arg642=) c.1956G>A (p.Arg652=) c.1947G>A (p.Arg649=) c.1917G>A (p.Arg639=) c.1860G>A (p.Arg620=) c.1806G>A (p.Arg602=) c.1599G>A (p.Arg533=) c.2013G>A (p.Arg671=) c.2007G>A (p.Arg669=) c.2004G>A (p.Arg668=) c.2064G>A (p.Arg688=) c.2055G>A (p.Arg685=) c.1974G>A (p.Arg658=) c.1923G>A (p.Arg641=) | |
| 14 | g.33800212G>C | CA486092914 | NPAS3 | c.1905G>C (p.Arg635=) c.1914G>C (p.Arg638=) c.1805G>C c.793+2631G>C c.1809G>C (p.Arg603=) c.1866G>C (p.Arg622=) c.1815G>C (p.Arg605=) c.1920G>C (p.Arg640=) c.1827G>C (p.Arg609=) c.1926G>C (p.Arg642=) c.1956G>C (p.Arg652=) c.1947G>C (p.Arg649=) c.1917G>C (p.Arg639=) c.1860G>C (p.Arg620=) c.1806G>C (p.Arg602=) c.1599G>C (p.Arg533=) c.2013G>C (p.Arg671=) c.2007G>C (p.Arg669=) c.2004G>C (p.Arg668=) c.2064G>C (p.Arg688=) c.2055G>C (p.Arg685=) c.1974G>C (p.Arg658=) c.1923G>C (p.Arg641=) | gnomAD v4 |
| 14 | g.33800212G>T | CA486092913 | NPAS3 | c.1905G>T (p.Arg635=) c.1914G>T (p.Arg638=) c.1805G>T c.793+2631G>T c.1809G>T (p.Arg603=) c.1866G>T (p.Arg622=) c.1815G>T (p.Arg605=) c.1920G>T (p.Arg640=) c.1827G>T (p.Arg609=) c.1926G>T (p.Arg642=) c.1956G>T (p.Arg652=) c.1947G>T (p.Arg649=) c.1917G>T (p.Arg639=) c.1860G>T (p.Arg620=) c.1806G>T (p.Arg602=) c.1599G>T (p.Arg533=) c.2013G>T (p.Arg671=) c.2007G>T (p.Arg669=) c.2004G>T (p.Arg668=) c.2064G>T (p.Arg688=) c.2055G>T (p.Arg685=) c.1974G>T (p.Arg658=) c.1923G>T (p.Arg641=) | |
| 14 | g.33800213C>A | CA389413046 | NPAS3 | c.1906C>A (p.Leu636Met) c.1915C>A (p.Leu639Met) c.1806C>A c.793+2632C>A c.1810C>A (p.Leu604Met) c.1867C>A (p.Leu623Met) c.1816C>A (p.Leu606Met) c.1921C>A (p.Leu641Met) c.1828C>A (p.Leu610Met) c.1927C>A (p.Leu643Met) c.1957C>A (p.Leu653Met) c.1948C>A (p.Leu650Met) c.1918C>A (p.Leu640Met) c.1861C>A (p.Leu621Met) c.1807C>A (p.Leu603Met) c.1600C>A (p.Leu534Met) c.2014C>A (p.Leu672Met) c.2008C>A (p.Leu670Met) c.2005C>A (p.Leu669Met) c.2065C>A (p.Leu689Met) c.2056C>A (p.Leu686Met) c.1975C>A (p.Leu659Met) c.1924C>A (p.Leu642Met) | |
| 14 | g.33800213C>G | CA389413048 | NPAS3 | c.1906C>G (p.Leu636Val) c.1915C>G (p.Leu639Val) c.1806C>G c.793+2632C>G c.1810C>G (p.Leu604Val) c.1867C>G (p.Leu623Val) c.1816C>G (p.Leu606Val) c.1921C>G (p.Leu641Val) c.1828C>G (p.Leu610Val) c.1927C>G (p.Leu643Val) c.1957C>G (p.Leu653Val) c.1948C>G (p.Leu650Val) c.1918C>G (p.Leu640Val) c.1861C>G (p.Leu621Val) c.1807C>G (p.Leu603Val) c.1600C>G (p.Leu534Val) c.2014C>G (p.Leu672Val) c.2008C>G (p.Leu670Val) c.2005C>G (p.Leu669Val) c.2065C>G (p.Leu689Val) c.2056C>G (p.Leu686Val) c.1975C>G (p.Leu659Val) c.1924C>G (p.Leu642Val) | |
| 14 | g.33800213C>T | CA486092919 | NPAS3 | c.1906C>T (p.Leu636=) c.1915C>T (p.Leu639=) c.1806C>T c.793+2632C>T c.1810C>T (p.Leu604=) c.1867C>T (p.Leu623=) c.1816C>T (p.Leu606=) c.1921C>T (p.Leu641=) c.1828C>T (p.Leu610=) c.1927C>T (p.Leu643=) c.1957C>T (p.Leu653=) c.1948C>T (p.Leu650=) c.1918C>T (p.Leu640=) c.1861C>T (p.Leu621=) c.1807C>T (p.Leu603=) c.1600C>T (p.Leu534=) c.2014C>T (p.Leu672=) c.2008C>T (p.Leu670=) c.2005C>T (p.Leu669=) c.2065C>T (p.Leu689=) c.2056C>T (p.Leu686=) c.1975C>T (p.Leu659=) c.1924C>T (p.Leu642=) | |
| 14 | g.33800214T>A | CA389413051 | NPAS3 | c.1907T>A (p.Leu636Gln) c.1916T>A (p.Leu639Gln) c.1807T>A c.793+2633T>A c.1811T>A (p.Leu604Gln) c.1868T>A (p.Leu623Gln) c.1817T>A (p.Leu606Gln) c.1922T>A (p.Leu641Gln) c.1829T>A (p.Leu610Gln) c.1928T>A (p.Leu643Gln) c.1958T>A (p.Leu653Gln) c.1949T>A (p.Leu650Gln) c.1919T>A (p.Leu640Gln) c.1862T>A (p.Leu621Gln) c.1808T>A (p.Leu603Gln) c.1601T>A (p.Leu534Gln) c.2015T>A (p.Leu672Gln) c.2009T>A (p.Leu670Gln) c.2006T>A (p.Leu669Gln) c.2066T>A (p.Leu689Gln) c.2057T>A (p.Leu686Gln) c.1976T>A (p.Leu659Gln) c.1925T>A (p.Leu642Gln) | |
| 14 | g.33800214T>C | CA389413053 | NPAS3 | c.1907T>C (p.Leu636Pro) c.1916T>C (p.Leu639Pro) c.1807T>C c.793+2633T>C c.1811T>C (p.Leu604Pro) c.1868T>C (p.Leu623Pro) c.1817T>C (p.Leu606Pro) c.1922T>C (p.Leu641Pro) c.1829T>C (p.Leu610Pro) c.1928T>C (p.Leu643Pro) c.1958T>C (p.Leu653Pro) c.1949T>C (p.Leu650Pro) c.1919T>C (p.Leu640Pro) c.1862T>C (p.Leu621Pro) c.1808T>C (p.Leu603Pro) c.1601T>C (p.Leu534Pro) c.2015T>C (p.Leu672Pro) c.2009T>C (p.Leu670Pro) c.2006T>C (p.Leu669Pro) c.2066T>C (p.Leu689Pro) c.2057T>C (p.Leu686Pro) c.1976T>C (p.Leu659Pro) c.1925T>C (p.Leu642Pro) | gnomAD v4 |
| 14 | g.33800214T>G | CA389413054 | NPAS3 | c.1907T>G (p.Leu636Arg) c.1916T>G (p.Leu639Arg) c.1807T>G c.793+2633T>G c.1811T>G (p.Leu604Arg) c.1868T>G (p.Leu623Arg) c.1817T>G (p.Leu606Arg) c.1922T>G (p.Leu641Arg) c.1829T>G (p.Leu610Arg) c.1928T>G (p.Leu643Arg) c.1958T>G (p.Leu653Arg) c.1949T>G (p.Leu650Arg) c.1919T>G (p.Leu640Arg) c.1862T>G (p.Leu621Arg) c.1808T>G (p.Leu603Arg) c.1601T>G (p.Leu534Arg) c.2015T>G (p.Leu672Arg) c.2009T>G (p.Leu670Arg) c.2006T>G (p.Leu669Arg) c.2066T>G (p.Leu689Arg) c.2057T>G (p.Leu686Arg) c.1976T>G (p.Leu659Arg) c.1925T>G (p.Leu642Arg) | |
| 14 | g.33800215G>A | CA7150907 | NPAS3 | c.1908G>A (p.Leu636=) c.1917G>A (p.Leu639=) c.1808G>A c.793+2634G>A c.1812G>A (p.Leu604=) c.1869G>A (p.Leu623=) c.1818G>A (p.Leu606=) c.1923G>A (p.Leu641=) c.1830G>A (p.Leu610=) c.1929G>A (p.Leu643=) c.1959G>A (p.Leu653=) c.1950G>A (p.Leu650=) c.1920G>A (p.Leu640=) c.1863G>A (p.Leu621=) c.1809G>A (p.Leu603=) c.1602G>A (p.Leu534=) c.2016G>A (p.Leu672=) c.2010G>A (p.Leu670=) c.2007G>A (p.Leu669=) c.2067G>A (p.Leu689=) c.2058G>A (p.Leu686=) c.1977G>A (p.Leu659=) c.1926G>A (p.Leu642=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800215G>C | CA486092920 | NPAS3 | c.1908G>C (p.Leu636=) c.1917G>C (p.Leu639=) c.1808G>C c.793+2634G>C c.1812G>C (p.Leu604=) c.1869G>C (p.Leu623=) c.1818G>C (p.Leu606=) c.1923G>C (p.Leu641=) c.1830G>C (p.Leu610=) c.1929G>C (p.Leu643=) c.1959G>C (p.Leu653=) c.1950G>C (p.Leu650=) c.1920G>C (p.Leu640=) c.1863G>C (p.Leu621=) c.1809G>C (p.Leu603=) c.1602G>C (p.Leu534=) c.2016G>C (p.Leu672=) c.2010G>C (p.Leu670=) c.2007G>C (p.Leu669=) c.2067G>C (p.Leu689=) c.2058G>C (p.Leu686=) c.1977G>C (p.Leu659=) c.1926G>C (p.Leu642=) | |
| 14 | g.33800215G= | CA2128327085 | NPAS3 | c.1908G= (p.Leu636=) c.1917G= (p.Leu639=) c.1808G= c.793+2634G= c.1812G= (p.Leu604=) c.1869G= (p.Leu623=) c.1818G= (p.Leu606=) c.1923G= (p.Leu641=) c.1830G= (p.Leu610=) c.1929G= (p.Leu643=) c.1959G= (p.Leu653=) c.1950G= (p.Leu650=) c.1920G= (p.Leu640=) c.1863G= (p.Leu621=) c.1809G= (p.Leu603=) c.1602G= (p.Leu534=) c.2016G= (p.Leu672=) c.2010G= (p.Leu670=) c.2007G= (p.Leu669=) c.2067G= (p.Leu689=) c.2058G= (p.Leu686=) c.1977G= (p.Leu659=) c.1926G= (p.Leu642=) | |
| 14 | g.33800215G>T | CA486092922 | NPAS3 | c.1908G>T (p.Leu636=) c.1917G>T (p.Leu639=) c.1808G>T c.793+2634G>T c.1812G>T (p.Leu604=) c.1869G>T (p.Leu623=) c.1818G>T (p.Leu606=) c.1923G>T (p.Leu641=) c.1830G>T (p.Leu610=) c.1929G>T (p.Leu643=) c.1959G>T (p.Leu653=) c.1950G>T (p.Leu650=) c.1920G>T (p.Leu640=) c.1863G>T (p.Leu621=) c.1809G>T (p.Leu603=) c.1602G>T (p.Leu534=) c.2016G>T (p.Leu672=) c.2010G>T (p.Leu670=) c.2007G>T (p.Leu669=) c.2067G>T (p.Leu689=) c.2058G>T (p.Leu686=) c.1977G>T (p.Leu659=) c.1926G>T (p.Leu642=) | |
| 14 | g.33800216C>A | CA389413057 | NPAS3 | c.1909C>A (p.Leu637Met) c.1918C>A (p.Leu640Met) c.1809C>A c.793+2635C>A c.1813C>A (p.Leu605Met) c.1870C>A (p.Leu624Met) c.1819C>A (p.Leu607Met) c.1924C>A (p.Leu642Met) c.1831C>A (p.Leu611Met) c.1930C>A (p.Leu644Met) c.1960C>A (p.Leu654Met) c.1951C>A (p.Leu651Met) c.1921C>A (p.Leu641Met) c.1864C>A (p.Leu622Met) c.1810C>A (p.Leu604Met) c.1603C>A (p.Leu535Met) c.2017C>A (p.Leu673Met) c.2011C>A (p.Leu671Met) c.2008C>A (p.Leu670Met) c.2068C>A (p.Leu690Met) c.2059C>A (p.Leu687Met) c.1978C>A (p.Leu660Met) c.1927C>A (p.Leu643Met) | |
| 14 | g.33800216C>G | CA389413059 | NPAS3 | c.1909C>G (p.Leu637Val) c.1918C>G (p.Leu640Val) c.1809C>G c.793+2635C>G c.1813C>G (p.Leu605Val) c.1870C>G (p.Leu624Val) c.1819C>G (p.Leu607Val) c.1924C>G (p.Leu642Val) c.1831C>G (p.Leu611Val) c.1930C>G (p.Leu644Val) c.1960C>G (p.Leu654Val) c.1951C>G (p.Leu651Val) c.1921C>G (p.Leu641Val) c.1864C>G (p.Leu622Val) c.1810C>G (p.Leu604Val) c.1603C>G (p.Leu535Val) c.2017C>G (p.Leu673Val) c.2011C>G (p.Leu671Val) c.2008C>G (p.Leu670Val) c.2068C>G (p.Leu690Val) c.2059C>G (p.Leu687Val) c.1978C>G (p.Leu660Val) c.1927C>G (p.Leu643Val) | |
| 14 | g.33800216C>T | CA486092925 | NPAS3 | c.1909C>T (p.Leu637=) c.1918C>T (p.Leu640=) c.1809C>T c.793+2635C>T c.1813C>T (p.Leu605=) c.1870C>T (p.Leu624=) c.1819C>T (p.Leu607=) c.1924C>T (p.Leu642=) c.1831C>T (p.Leu611=) c.1930C>T (p.Leu644=) c.1960C>T (p.Leu654=) c.1951C>T (p.Leu651=) c.1921C>T (p.Leu641=) c.1864C>T (p.Leu622=) c.1810C>T (p.Leu604=) c.1603C>T (p.Leu535=) c.2017C>T (p.Leu673=) c.2011C>T (p.Leu671=) c.2008C>T (p.Leu670=) c.2068C>T (p.Leu690=) c.2059C>T (p.Leu687=) c.1978C>T (p.Leu660=) c.1927C>T (p.Leu643=) | |
| 14 | g.33800217T>A | CA389413064 | NPAS3 | c.1910T>A (p.Leu637Gln) c.1919T>A (p.Leu640Gln) c.1810T>A c.793+2636T>A c.1814T>A (p.Leu605Gln) c.1871T>A (p.Leu624Gln) c.1820T>A (p.Leu607Gln) c.1925T>A (p.Leu642Gln) c.1832T>A (p.Leu611Gln) c.1931T>A (p.Leu644Gln) c.1961T>A (p.Leu654Gln) c.1952T>A (p.Leu651Gln) c.1922T>A (p.Leu641Gln) c.1865T>A (p.Leu622Gln) c.1811T>A (p.Leu604Gln) c.1604T>A (p.Leu535Gln) c.2018T>A (p.Leu673Gln) c.2012T>A (p.Leu671Gln) c.2009T>A (p.Leu670Gln) c.2069T>A (p.Leu690Gln) c.2060T>A (p.Leu687Gln) c.1979T>A (p.Leu660Gln) c.1928T>A (p.Leu643Gln) | gnomAD v4 |
| 14 | g.33800217T>C | CA389413066 | NPAS3 | c.1910T>C (p.Leu637Pro) c.1919T>C (p.Leu640Pro) c.1810T>C c.793+2636T>C c.1814T>C (p.Leu605Pro) c.1871T>C (p.Leu624Pro) c.1820T>C (p.Leu607Pro) c.1925T>C (p.Leu642Pro) c.1832T>C (p.Leu611Pro) c.1931T>C (p.Leu644Pro) c.1961T>C (p.Leu654Pro) c.1952T>C (p.Leu651Pro) c.1922T>C (p.Leu641Pro) c.1865T>C (p.Leu622Pro) c.1811T>C (p.Leu604Pro) c.1604T>C (p.Leu535Pro) c.2018T>C (p.Leu673Pro) c.2012T>C (p.Leu671Pro) c.2009T>C (p.Leu670Pro) c.2069T>C (p.Leu690Pro) c.2060T>C (p.Leu687Pro) c.1979T>C (p.Leu660Pro) c.1928T>C (p.Leu643Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800217T>G | CA389413063 | NPAS3 | c.1910T>G (p.Leu637Arg) c.1919T>G (p.Leu640Arg) c.1810T>G c.793+2636T>G c.1814T>G (p.Leu605Arg) c.1871T>G (p.Leu624Arg) c.1820T>G (p.Leu607Arg) c.1925T>G (p.Leu642Arg) c.1832T>G (p.Leu611Arg) c.1931T>G (p.Leu644Arg) c.1961T>G (p.Leu654Arg) c.1952T>G (p.Leu651Arg) c.1922T>G (p.Leu641Arg) c.1865T>G (p.Leu622Arg) c.1811T>G (p.Leu604Arg) c.1604T>G (p.Leu535Arg) c.2018T>G (p.Leu673Arg) c.2012T>G (p.Leu671Arg) c.2009T>G (p.Leu670Arg) c.2069T>G (p.Leu690Arg) c.2060T>G (p.Leu687Arg) c.1979T>G (p.Leu660Arg) c.1928T>G (p.Leu643Arg) | |
| 14 | g.33800217T= | CA2128327091 | NPAS3 | c.1910T= (p.Leu637=) c.1919T= (p.Leu640=) c.1810T= c.793+2636T= c.1814T= (p.Leu605=) c.1871T= (p.Leu624=) c.1820T= (p.Leu607=) c.1925T= (p.Leu642=) c.1832T= (p.Leu611=) c.1931T= (p.Leu644=) c.1961T= (p.Leu654=) c.1952T= (p.Leu651=) c.1922T= (p.Leu641=) c.1865T= (p.Leu622=) c.1811T= (p.Leu604=) c.1604T= (p.Leu535=) c.2018T= (p.Leu673=) c.2012T= (p.Leu671=) c.2009T= (p.Leu670=) c.2069T= (p.Leu690=) c.2060T= (p.Leu687=) c.1979T= (p.Leu660=) c.1928T= (p.Leu643=) | |
| 14 | g.33800218G>A | CA486092926 | NPAS3 | c.1911G>A (p.Leu637=) c.1920G>A (p.Leu640=) c.1811G>A c.793+2637G>A c.1815G>A (p.Leu605=) c.1872G>A (p.Leu624=) c.1821G>A (p.Leu607=) c.1926G>A (p.Leu642=) c.1833G>A (p.Leu611=) c.1932G>A (p.Leu644=) c.1962G>A (p.Leu654=) c.1953G>A (p.Leu651=) c.1923G>A (p.Leu641=) c.1866G>A (p.Leu622=) c.1812G>A (p.Leu604=) c.1605G>A (p.Leu535=) c.2019G>A (p.Leu673=) c.2013G>A (p.Leu671=) c.2010G>A (p.Leu670=) c.2070G>A (p.Leu690=) c.2061G>A (p.Leu687=) c.1980G>A (p.Leu660=) c.1929G>A (p.Leu643=) | |
| 14 | g.33800218G>C | CA486092927 | NPAS3 | c.1911G>C (p.Leu637=) c.1920G>C (p.Leu640=) c.1811G>C c.793+2637G>C c.1815G>C (p.Leu605=) c.1872G>C (p.Leu624=) c.1821G>C (p.Leu607=) c.1926G>C (p.Leu642=) c.1833G>C (p.Leu611=) c.1932G>C (p.Leu644=) c.1962G>C (p.Leu654=) c.1953G>C (p.Leu651=) c.1923G>C (p.Leu641=) c.1866G>C (p.Leu622=) c.1812G>C (p.Leu604=) c.1605G>C (p.Leu535=) c.2019G>C (p.Leu673=) c.2013G>C (p.Leu671=) c.2010G>C (p.Leu670=) c.2070G>C (p.Leu690=) c.2061G>C (p.Leu687=) c.1980G>C (p.Leu660=) c.1929G>C (p.Leu643=) | gnomAD v4 |
| 14 | g.33800218G>T | CA486092929 | NPAS3 | c.1911G>T (p.Leu637=) c.1920G>T (p.Leu640=) c.1811G>T c.793+2637G>T c.1815G>T (p.Leu605=) c.1872G>T (p.Leu624=) c.1821G>T (p.Leu607=) c.1926G>T (p.Leu642=) c.1833G>T (p.Leu611=) c.1932G>T (p.Leu644=) c.1962G>T (p.Leu654=) c.1953G>T (p.Leu651=) c.1923G>T (p.Leu641=) c.1866G>T (p.Leu622=) c.1812G>T (p.Leu604=) c.1605G>T (p.Leu535=) c.2019G>T (p.Leu673=) c.2013G>T (p.Leu671=) c.2010G>T (p.Leu670=) c.2070G>T (p.Leu690=) c.2061G>T (p.Leu687=) c.1980G>T (p.Leu660=) c.1929G>T (p.Leu643=) | |
| 14 | g.33800219T>A | CA389413068 | NPAS3 | c.1912T>A (p.Ser638Thr) c.1921T>A (p.Ser641Thr) c.1812T>A c.793+2638T>A c.1816T>A (p.Ser606Thr) c.1873T>A (p.Ser625Thr) c.1822T>A (p.Ser608Thr) c.1927T>A (p.Ser643Thr) c.1834T>A (p.Ser612Thr) c.1933T>A (p.Ser645Thr) c.1963T>A (p.Ser655Thr) c.1954T>A (p.Ser652Thr) c.1924T>A (p.Ser642Thr) c.1867T>A (p.Ser623Thr) c.1813T>A (p.Ser605Thr) c.1606T>A (p.Ser536Thr) c.2020T>A (p.Ser674Thr) c.2014T>A (p.Ser672Thr) c.2011T>A (p.Ser671Thr) c.2071T>A (p.Ser691Thr) c.2062T>A (p.Ser688Thr) c.1981T>A (p.Ser661Thr) c.1930T>A (p.Ser644Thr) | |
| 14 | g.33800219T>C | CA389413070 | NPAS3 | c.1912T>C (p.Ser638Pro) c.1921T>C (p.Ser641Pro) c.1812T>C c.793+2638T>C c.1816T>C (p.Ser606Pro) c.1873T>C (p.Ser625Pro) c.1822T>C (p.Ser608Pro) c.1927T>C (p.Ser643Pro) c.1834T>C (p.Ser612Pro) c.1933T>C (p.Ser645Pro) c.1963T>C (p.Ser655Pro) c.1954T>C (p.Ser652Pro) c.1924T>C (p.Ser642Pro) c.1867T>C (p.Ser623Pro) c.1813T>C (p.Ser605Pro) c.1606T>C (p.Ser536Pro) c.2020T>C (p.Ser674Pro) c.2014T>C (p.Ser672Pro) c.2011T>C (p.Ser671Pro) c.2071T>C (p.Ser691Pro) c.2062T>C (p.Ser688Pro) c.1981T>C (p.Ser661Pro) c.1930T>C (p.Ser644Pro) | |
| 14 | g.33800219T>G | CA389413072 | NPAS3 | c.1912T>G (p.Ser638Ala) c.1921T>G (p.Ser641Ala) c.1812T>G c.793+2638T>G c.1816T>G (p.Ser606Ala) c.1873T>G (p.Ser625Ala) c.1822T>G (p.Ser608Ala) c.1927T>G (p.Ser643Ala) c.1834T>G (p.Ser612Ala) c.1933T>G (p.Ser645Ala) c.1963T>G (p.Ser655Ala) c.1954T>G (p.Ser652Ala) c.1924T>G (p.Ser642Ala) c.1867T>G (p.Ser623Ala) c.1813T>G (p.Ser605Ala) c.1606T>G (p.Ser536Ala) c.2020T>G (p.Ser674Ala) c.2014T>G (p.Ser672Ala) c.2011T>G (p.Ser671Ala) c.2071T>G (p.Ser691Ala) c.2062T>G (p.Ser688Ala) c.1981T>G (p.Ser661Ala) c.1930T>G (p.Ser644Ala) | |
| 14 | g.33800220C>A | CA7150908 | NPAS3 | c.1913C>A (p.Ser638Tyr) c.1922C>A (p.Ser641Tyr) c.1813C>A c.793+2639C>A c.1817C>A (p.Ser606Tyr) c.1874C>A (p.Ser625Tyr) c.1823C>A (p.Ser608Tyr) c.1928C>A (p.Ser643Tyr) c.1835C>A (p.Ser612Tyr) c.1934C>A (p.Ser645Tyr) c.1964C>A (p.Ser655Tyr) c.1955C>A (p.Ser652Tyr) c.1925C>A (p.Ser642Tyr) c.1868C>A (p.Ser623Tyr) c.1814C>A (p.Ser605Tyr) c.1607C>A (p.Ser536Tyr) c.2021C>A (p.Ser674Tyr) c.2015C>A (p.Ser672Tyr) c.2012C>A (p.Ser671Tyr) c.2072C>A (p.Ser691Tyr) c.2063C>A (p.Ser688Tyr) c.1982C>A (p.Ser661Tyr) c.1931C>A (p.Ser644Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800220C= | CA2128327096 | NPAS3 | c.1913C= (p.Ser638=) c.1922C= (p.Ser641=) c.1813C= c.793+2639C= c.1817C= (p.Ser606=) c.1874C= (p.Ser625=) c.1823C= (p.Ser608=) c.1928C= (p.Ser643=) c.1835C= (p.Ser612=) c.1934C= (p.Ser645=) c.1964C= (p.Ser655=) c.1955C= (p.Ser652=) c.1925C= (p.Ser642=) c.1868C= (p.Ser623=) c.1814C= (p.Ser605=) c.1607C= (p.Ser536=) c.2021C= (p.Ser674=) c.2015C= (p.Ser672=) c.2012C= (p.Ser671=) c.2072C= (p.Ser691=) c.2063C= (p.Ser688=) c.1982C= (p.Ser661=) c.1931C= (p.Ser644=) | |
| 14 | g.33800220C>G | CA389413073 | NPAS3 | c.1913C>G (p.Ser638Cys) c.1922C>G (p.Ser641Cys) c.1813C>G c.793+2639C>G c.1817C>G (p.Ser606Cys) c.1874C>G (p.Ser625Cys) c.1823C>G (p.Ser608Cys) c.1928C>G (p.Ser643Cys) c.1835C>G (p.Ser612Cys) c.1934C>G (p.Ser645Cys) c.1964C>G (p.Ser655Cys) c.1955C>G (p.Ser652Cys) c.1925C>G (p.Ser642Cys) c.1868C>G (p.Ser623Cys) c.1814C>G (p.Ser605Cys) c.1607C>G (p.Ser536Cys) c.2021C>G (p.Ser674Cys) c.2015C>G (p.Ser672Cys) c.2012C>G (p.Ser671Cys) c.2072C>G (p.Ser691Cys) c.2063C>G (p.Ser688Cys) c.1982C>G (p.Ser661Cys) c.1931C>G (p.Ser644Cys) | |
| 14 | g.33800220C>T | CA389413075 | NPAS3 | c.1913C>T (p.Ser638Phe) c.1922C>T (p.Ser641Phe) c.1813C>T c.793+2639C>T c.1817C>T (p.Ser606Phe) c.1874C>T (p.Ser625Phe) c.1823C>T (p.Ser608Phe) c.1928C>T (p.Ser643Phe) c.1835C>T (p.Ser612Phe) c.1934C>T (p.Ser645Phe) c.1964C>T (p.Ser655Phe) c.1955C>T (p.Ser652Phe) c.1925C>T (p.Ser642Phe) c.1868C>T (p.Ser623Phe) c.1814C>T (p.Ser605Phe) c.1607C>T (p.Ser536Phe) c.2021C>T (p.Ser674Phe) c.2015C>T (p.Ser672Phe) c.2012C>T (p.Ser671Phe) c.2072C>T (p.Ser691Phe) c.2063C>T (p.Ser688Phe) c.1982C>T (p.Ser661Phe) c.1931C>T (p.Ser644Phe) | |
| 14 | g.33800221C>A | CA486092932 | NPAS3 | c.1914C>A (p.Ser638=) c.1923C>A (p.Ser641=) c.1814C>A c.793+2640C>A c.1818C>A (p.Ser606=) c.1875C>A (p.Ser625=) c.1824C>A (p.Ser608=) c.1929C>A (p.Ser643=) c.1836C>A (p.Ser612=) c.1935C>A (p.Ser645=) c.1965C>A (p.Ser655=) c.1956C>A (p.Ser652=) c.1926C>A (p.Ser642=) c.1869C>A (p.Ser623=) c.1815C>A (p.Ser605=) c.1608C>A (p.Ser536=) c.2022C>A (p.Ser674=) c.2016C>A (p.Ser672=) c.2013C>A (p.Ser671=) c.2073C>A (p.Ser691=) c.2064C>A (p.Ser688=) c.1983C>A (p.Ser661=) c.1932C>A (p.Ser644=) | |
| 14 | g.33800221C= | CA2128327099 | NPAS3 | c.1914C= (p.Ser638=) c.1923C= (p.Ser641=) c.1814C= c.793+2640C= c.1818C= (p.Ser606=) c.1875C= (p.Ser625=) c.1824C= (p.Ser608=) c.1929C= (p.Ser643=) c.1836C= (p.Ser612=) c.1935C= (p.Ser645=) c.1965C= (p.Ser655=) c.1956C= (p.Ser652=) c.1926C= (p.Ser642=) c.1869C= (p.Ser623=) c.1815C= (p.Ser605=) c.1608C= (p.Ser536=) c.2022C= (p.Ser674=) c.2016C= (p.Ser672=) c.2013C= (p.Ser671=) c.2073C= (p.Ser691=) c.2064C= (p.Ser688=) c.1983C= (p.Ser661=) c.1932C= (p.Ser644=) | |
| 14 | g.33800221C>G | CA486092933 | NPAS3 | c.1914C>G (p.Ser638=) c.1923C>G (p.Ser641=) c.1814C>G c.793+2640C>G c.1818C>G (p.Ser606=) c.1875C>G (p.Ser625=) c.1824C>G (p.Ser608=) c.1929C>G (p.Ser643=) c.1836C>G (p.Ser612=) c.1935C>G (p.Ser645=) c.1965C>G (p.Ser655=) c.1956C>G (p.Ser652=) c.1926C>G (p.Ser642=) c.1869C>G (p.Ser623=) c.1815C>G (p.Ser605=) c.1608C>G (p.Ser536=) c.2022C>G (p.Ser674=) c.2016C>G (p.Ser672=) c.2013C>G (p.Ser671=) c.2073C>G (p.Ser691=) c.2064C>G (p.Ser688=) c.1983C>G (p.Ser661=) c.1932C>G (p.Ser644=) | |
| 14 | g.33800221C>T | CA258718907 | NPAS3 | c.1914C>T (p.Ser638=) c.1923C>T (p.Ser641=) c.1814C>T c.793+2640C>T c.1818C>T (p.Ser606=) c.1875C>T (p.Ser625=) c.1824C>T (p.Ser608=) c.1929C>T (p.Ser643=) c.1836C>T (p.Ser612=) c.1935C>T (p.Ser645=) c.1965C>T (p.Ser655=) c.1956C>T (p.Ser652=) c.1926C>T (p.Ser642=) c.1869C>T (p.Ser623=) c.1815C>T (p.Ser605=) c.1608C>T (p.Ser536=) c.2022C>T (p.Ser674=) c.2016C>T (p.Ser672=) c.2013C>T (p.Ser671=) c.2073C>T (p.Ser691=) c.2064C>T (p.Ser688=) c.1983C>T (p.Ser661=) c.1932C>T (p.Ser644=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800222T>A | CA389413078 | NPAS3 | c.1915T>A (p.Ser639Thr) c.1924T>A (p.Ser642Thr) c.1815T>A c.793+2641T>A c.1819T>A (p.Ser607Thr) c.1876T>A (p.Ser626Thr) c.1825T>A (p.Ser609Thr) c.1930T>A (p.Ser644Thr) c.1837T>A (p.Ser613Thr) c.1936T>A (p.Ser646Thr) c.1966T>A (p.Ser656Thr) c.1957T>A (p.Ser653Thr) c.1927T>A (p.Ser643Thr) c.1870T>A (p.Ser624Thr) c.1816T>A (p.Ser606Thr) c.1609T>A (p.Ser537Thr) c.2023T>A (p.Ser675Thr) c.2017T>A (p.Ser673Thr) c.2014T>A (p.Ser672Thr) c.2074T>A (p.Ser692Thr) c.2065T>A (p.Ser689Thr) c.1984T>A (p.Ser662Thr) c.1933T>A (p.Ser645Thr) | dbSNP gnomAD v2 |
| 14 | g.33800222T>C | CA389413079 | NPAS3 | c.1915T>C (p.Ser639Pro) c.1924T>C (p.Ser642Pro) c.1815T>C c.793+2641T>C c.1819T>C (p.Ser607Pro) c.1876T>C (p.Ser626Pro) c.1825T>C (p.Ser609Pro) c.1930T>C (p.Ser644Pro) c.1837T>C (p.Ser613Pro) c.1936T>C (p.Ser646Pro) c.1966T>C (p.Ser656Pro) c.1957T>C (p.Ser653Pro) c.1927T>C (p.Ser643Pro) c.1870T>C (p.Ser624Pro) c.1816T>C (p.Ser606Pro) c.1609T>C (p.Ser537Pro) c.2023T>C (p.Ser675Pro) c.2017T>C (p.Ser673Pro) c.2014T>C (p.Ser672Pro) c.2074T>C (p.Ser692Pro) c.2065T>C (p.Ser689Pro) c.1984T>C (p.Ser662Pro) c.1933T>C (p.Ser645Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800222T>G | CA389413082 | NPAS3 | c.1915T>G (p.Ser639Ala) c.1924T>G (p.Ser642Ala) c.1815T>G c.793+2641T>G c.1819T>G (p.Ser607Ala) c.1876T>G (p.Ser626Ala) c.1825T>G (p.Ser609Ala) c.1930T>G (p.Ser644Ala) c.1837T>G (p.Ser613Ala) c.1936T>G (p.Ser646Ala) c.1966T>G (p.Ser656Ala) c.1957T>G (p.Ser653Ala) c.1927T>G (p.Ser643Ala) c.1870T>G (p.Ser624Ala) c.1816T>G (p.Ser606Ala) c.1609T>G (p.Ser537Ala) c.2023T>G (p.Ser675Ala) c.2017T>G (p.Ser673Ala) c.2014T>G (p.Ser672Ala) c.2074T>G (p.Ser692Ala) c.2065T>G (p.Ser689Ala) c.1984T>G (p.Ser662Ala) c.1933T>G (p.Ser645Ala) | |
| 14 | g.33800222T= | CA2128327104 | NPAS3 | c.1915T= (p.Ser639=) c.1924T= (p.Ser642=) c.1815T= c.793+2641T= c.1819T= (p.Ser607=) c.1876T= (p.Ser626=) c.1825T= (p.Ser609=) c.1930T= (p.Ser644=) c.1837T= (p.Ser613=) c.1936T= (p.Ser646=) c.1966T= (p.Ser656=) c.1957T= (p.Ser653=) c.1927T= (p.Ser643=) c.1870T= (p.Ser624=) c.1816T= (p.Ser606=) c.1609T= (p.Ser537=) c.2023T= (p.Ser675=) c.2017T= (p.Ser673=) c.2014T= (p.Ser672=) c.2074T= (p.Ser692=) c.2065T= (p.Ser689=) c.1984T= (p.Ser662=) c.1933T= (p.Ser645=) | |
| 14 | g.33800223C>A | CA389413084 | NPAS3 | c.1916C>A (p.Ser639Tyr) c.1925C>A (p.Ser642Tyr) c.1816C>A c.793+2642C>A c.1820C>A (p.Ser607Tyr) c.1877C>A (p.Ser626Tyr) c.1826C>A (p.Ser609Tyr) c.1931C>A (p.Ser644Tyr) c.1838C>A (p.Ser613Tyr) c.1937C>A (p.Ser646Tyr) c.1967C>A (p.Ser656Tyr) c.1958C>A (p.Ser653Tyr) c.1928C>A (p.Ser643Tyr) c.1871C>A (p.Ser624Tyr) c.1817C>A (p.Ser606Tyr) c.1610C>A (p.Ser537Tyr) c.2024C>A (p.Ser675Tyr) c.2018C>A (p.Ser673Tyr) c.2015C>A (p.Ser672Tyr) c.2075C>A (p.Ser692Tyr) c.2066C>A (p.Ser689Tyr) c.1985C>A (p.Ser662Tyr) c.1934C>A (p.Ser645Tyr) | dbSNP gnomAD v4 |
| 14 | g.33800223C= | CA2128327110 | NPAS3 | c.1916C= (p.Ser639=) c.1925C= (p.Ser642=) c.1816C= c.793+2642C= c.1820C= (p.Ser607=) c.1877C= (p.Ser626=) c.1826C= (p.Ser609=) c.1931C= (p.Ser644=) c.1838C= (p.Ser613=) c.1937C= (p.Ser646=) c.1967C= (p.Ser656=) c.1958C= (p.Ser653=) c.1928C= (p.Ser643=) c.1871C= (p.Ser624=) c.1817C= (p.Ser606=) c.1610C= (p.Ser537=) c.2024C= (p.Ser675=) c.2018C= (p.Ser673=) c.2015C= (p.Ser672=) c.2075C= (p.Ser692=) c.2066C= (p.Ser689=) c.1985C= (p.Ser662=) c.1934C= (p.Ser645=) | |
| 14 | g.33800223C>G | CA389413086 | NPAS3 | c.1916C>G (p.Ser639Cys) c.1925C>G (p.Ser642Cys) c.1816C>G c.793+2642C>G c.1820C>G (p.Ser607Cys) c.1877C>G (p.Ser626Cys) c.1826C>G (p.Ser609Cys) c.1931C>G (p.Ser644Cys) c.1838C>G (p.Ser613Cys) c.1937C>G (p.Ser646Cys) c.1967C>G (p.Ser656Cys) c.1958C>G (p.Ser653Cys) c.1928C>G (p.Ser643Cys) c.1871C>G (p.Ser624Cys) c.1817C>G (p.Ser606Cys) c.1610C>G (p.Ser537Cys) c.2024C>G (p.Ser675Cys) c.2018C>G (p.Ser673Cys) c.2015C>G (p.Ser672Cys) c.2075C>G (p.Ser692Cys) c.2066C>G (p.Ser689Cys) c.1985C>G (p.Ser662Cys) c.1934C>G (p.Ser645Cys) | |
| 14 | g.33800223C>T | CA389413088 | NPAS3 | c.1916C>T (p.Ser639Phe) c.1925C>T (p.Ser642Phe) c.1816C>T c.793+2642C>T c.1820C>T (p.Ser607Phe) c.1877C>T (p.Ser626Phe) c.1826C>T (p.Ser609Phe) c.1931C>T (p.Ser644Phe) c.1838C>T (p.Ser613Phe) c.1937C>T (p.Ser646Phe) c.1967C>T (p.Ser656Phe) c.1958C>T (p.Ser653Phe) c.1928C>T (p.Ser643Phe) c.1871C>T (p.Ser624Phe) c.1817C>T (p.Ser606Phe) c.1610C>T (p.Ser537Phe) c.2024C>T (p.Ser675Phe) c.2018C>T (p.Ser673Phe) c.2015C>T (p.Ser672Phe) c.2075C>T (p.Ser692Phe) c.2066C>T (p.Ser689Phe) c.1985C>T (p.Ser662Phe) c.1934C>T (p.Ser645Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800224C>A | CA486092936 | NPAS3 | c.1917C>A (p.Ser639=) c.1926C>A (p.Ser642=) c.1817C>A c.793+2643C>A c.1821C>A (p.Ser607=) c.1878C>A (p.Ser626=) c.1827C>A (p.Ser609=) c.1932C>A (p.Ser644=) c.1839C>A (p.Ser613=) c.1938C>A (p.Ser646=) c.1968C>A (p.Ser656=) c.1959C>A (p.Ser653=) c.1929C>A (p.Ser643=) c.1872C>A (p.Ser624=) c.1818C>A (p.Ser606=) c.1611C>A (p.Ser537=) c.2025C>A (p.Ser675=) c.2019C>A (p.Ser673=) c.2016C>A (p.Ser672=) c.2076C>A (p.Ser692=) c.2067C>A (p.Ser689=) c.1986C>A (p.Ser662=) c.1935C>A (p.Ser645=) | dbSNP gnomAD v2 |
| 14 | g.33800224C= | CA2128327115 | NPAS3 | c.1917C= (p.Ser639=) c.1926C= (p.Ser642=) c.1817C= c.793+2643C= c.1821C= (p.Ser607=) c.1878C= (p.Ser626=) c.1827C= (p.Ser609=) c.1932C= (p.Ser644=) c.1839C= (p.Ser613=) c.1938C= (p.Ser646=) c.1968C= (p.Ser656=) c.1959C= (p.Ser653=) c.1929C= (p.Ser643=) c.1872C= (p.Ser624=) c.1818C= (p.Ser606=) c.1611C= (p.Ser537=) c.2025C= (p.Ser675=) c.2019C= (p.Ser673=) c.2016C= (p.Ser672=) c.2076C= (p.Ser692=) c.2067C= (p.Ser689=) c.1986C= (p.Ser662=) c.1935C= (p.Ser645=) | |
| 14 | g.33800224C>G | CA486092937 | NPAS3 | c.1917C>G (p.Ser639=) c.1926C>G (p.Ser642=) c.1817C>G c.793+2643C>G c.1821C>G (p.Ser607=) c.1878C>G (p.Ser626=) c.1827C>G (p.Ser609=) c.1932C>G (p.Ser644=) c.1839C>G (p.Ser613=) c.1938C>G (p.Ser646=) c.1968C>G (p.Ser656=) c.1959C>G (p.Ser653=) c.1929C>G (p.Ser643=) c.1872C>G (p.Ser624=) c.1818C>G (p.Ser606=) c.1611C>G (p.Ser537=) c.2025C>G (p.Ser675=) c.2019C>G (p.Ser673=) c.2016C>G (p.Ser672=) c.2076C>G (p.Ser692=) c.2067C>G (p.Ser689=) c.1986C>G (p.Ser662=) c.1935C>G (p.Ser645=) | |
| 14 | g.33800224C>T | CA486092938 | NPAS3 | c.1917C>T (p.Ser639=) c.1926C>T (p.Ser642=) c.1817C>T c.793+2643C>T c.1821C>T (p.Ser607=) c.1878C>T (p.Ser626=) c.1827C>T (p.Ser609=) c.1932C>T (p.Ser644=) c.1839C>T (p.Ser613=) c.1938C>T (p.Ser646=) c.1968C>T (p.Ser656=) c.1959C>T (p.Ser653=) c.1929C>T (p.Ser643=) c.1872C>T (p.Ser624=) c.1818C>T (p.Ser606=) c.1611C>T (p.Ser537=) c.2025C>T (p.Ser675=) c.2019C>T (p.Ser673=) c.2016C>T (p.Ser672=) c.2076C>T (p.Ser692=) c.2067C>T (p.Ser689=) c.1986C>T (p.Ser662=) c.1935C>T (p.Ser645=) |