Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.33800150C>ACA486092830NPAS3c.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=)
14g.33800150C>GCA389412776NPAS3c.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
14g.33800150C>TCA389412780NPAS3c.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
14g.33800151G>ACA7150897NPAS3c.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
14g.33800151G>CCA389412786NPAS3c.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)
14g.33800151G=CA2128326970NPAS3c.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=)
14g.33800151G>TCA389412785NPAS3c.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)
14g.33800152G>ACA486092833NPAS3c.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=)
14g.33800152G>CCA486092834NPAS3c.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=)
14g.33800152G>TCA486092835NPAS3c.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
14g.33800153C>ACA389412787NPAS3c.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)
14g.33800153C=CA2128326974NPAS3c.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=)
14g.33800153C>GCA389412789NPAS3c.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
14g.33800153C>TCA389412791NPAS3c.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
14g.33800154G>ACA389412796NPAS3c.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)
14g.33800154G>CCA389412798NPAS3c.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)
14g.33800154G>TCA389412802NPAS3c.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)
14g.33800155C>ACA486092836NPAS3c.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=)
14g.33800155C>GCA486092838NPAS3c.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=)
14g.33800155C>TCA486092837NPAS3c.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=)
14g.33800156C>ACA389412805NPAS3c.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
14g.33800156C>GCA389412808NPAS3c.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)
14g.33800156C>TCA486092839NPAS3c.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=)
14g.33800157T>ACA389412812NPAS3c.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
14g.33800157T>CCA389412814NPAS3c.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
14g.33800157T>GCA389412816NPAS3c.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)
14g.33800158G>ACA486092844NPAS3c.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=)
14g.33800158G>CCA486092843NPAS3c.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
14g.33800158G=CA2128326977NPAS3c.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=)
14g.33800158G>TCA258718779NPAS3c.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
14g.33800159T>ACA389412821NPAS3c.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)
14g.33800159T>CCA389412828NPAS3c.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)
14g.33800159T>GCA389412823NPAS3c.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)
14g.33800160C>ACA389412830NPAS3c.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)
14g.33800160C>GCA389412832NPAS3c.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
14g.33800160C>TCA389412834NPAS3c.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
14g.33800161C>ACA486092846NPAS3c.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=)
14g.33800161C=CA2128326980NPAS3c.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=)
14g.33800161C>GCA486092848NPAS3c.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=)
14g.33800161C>TCA486092847NPAS3c.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
14g.33800162A>CCA389412835NPAS3c.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)
14g.33800162A>GCA389412836NPAS3c.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)
14g.33800162A>TCA389412838NPAS3c.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)
14g.33800163G>ACA389412840NPAS3c.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
14g.33800163G>CCA389412842NPAS3c.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)
14g.33800163G=CA2128326983NPAS3c.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=)
14g.33800163G>TCA389412843NPAS3c.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
14g.33800164C>ACA389412845NPAS3c.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
14g.33800164C=CA2128326987NPAS3c.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=)
14g.33800164C>GCA7150898NPAS3c.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
14g.33800164C>TCA7150899NPAS3c.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
14g.33800165G>ACA7150900NPAS3c.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
14g.33800165G>CCA389412853NPAS3c.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)
14g.33800165G=CA2128326996NPAS3c.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=)
14g.33800165G>TCA389412850NPAS3c.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
14g.33800166C>ACA389412855NPAS3c.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)
14g.33800166C=CA2128326998NPAS3c.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=)
14g.33800166C>GCA389412857NPAS3c.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)
14g.33800166C>TCA389412859NPAS3c.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
14g.33800167G>ACA258718820NPAS3c.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
14g.33800167G>CCA7150901NPAS3c.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
14g.33800167G=CA2128327002NPAS3c.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=)
14g.33800167G>TCA486092853NPAS3c.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=)
14g.33800168T>ACA389412869NPAS3c.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)
14g.33800168T>CCA389412865NPAS3c.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
14g.33800168T>GCA389412867NPAS3c.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
14g.33800169C>ACA389412871NPAS3c.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)
14g.33800169C>GCA389412873NPAS3c.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)
14g.33800169C>TCA389412880NPAS3c.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)
14g.33800170G>ACA486092857NPAS3c.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
14g.33800170G>CCA486092858NPAS3c.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=)
14g.33800170G=CA2128327005NPAS3c.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=)
14g.33800170G>TCA486092859NPAS3c.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
14g.33800171A>CCA389412883NPAS3c.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)
14g.33800171A>GCA389412885NPAS3c.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
14g.33800171A>TCA389412887NPAS3c.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)
14g.33800172G>ACA389412892NPAS3c.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
14g.33800172G>CCA389412895NPAS3c.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
14g.33800172G=CA2128327008NPAS3c.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=)
14g.33800172G>TCA389412891NPAS3c.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)
14g.33800173C>ACA389412900NPAS3c.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
14g.33800173C=CA2128327013NPAS3c.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=)
14g.33800173C>GCA389412898NPAS3c.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)
14g.33800173C>TCA486092861NPAS3c.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
14g.33800174C>ACA389412904NPAS3c.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
14g.33800174C>GCA389412902NPAS3c.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)
14g.33800174C>TCA389412906NPAS3c.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
14g.33800175C>ACA389412908NPAS3c.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)
14g.33800175C=CA2128327015NPAS3c.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=)
14g.33800175C>GCA389412910NPAS3c.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
14g.33800175C>TCA389412912NPAS3c.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)
14g.33800176A=CA2128327016NPAS3c.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=)
14g.33800176A>CCA486092862NPAS3c.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
14g.33800176A>GCA486092864NPAS3c.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=)
14g.33800176A>TCA486092863NPAS3c.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=)
14g.33800177G>ACA389412913NPAS3c.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)
14g.33800177G>CCA389412914NPAS3c.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)
14g.33800177G>TCA389412916NPAS3c.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)
14g.33800178G>ACA389412917NPAS3c.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
14g.33800178G>CCA389412918NPAS3c.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)
14g.33800178G>TCA389412920NPAS3c.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)
14g.33800179C>ACA486092865NPAS3c.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
14g.33800179C=CA2128327020NPAS3c.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=)
14g.33800179C>GCA486092866NPAS3c.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=)
14g.33800179C>TCA486092868NPAS3c.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
14g.33800180G>ACA389412922NPAS3c.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)
14g.33800180G>CCA389412923NPAS3c.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)
14g.33800180G>TCA389412924NPAS3c.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)
14g.33800181G>ACA389412931NPAS3c.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)
14g.33800181G>CCA389412927NPAS3c.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)
14g.33800181G>TCA389412929NPAS3c.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
14g.33800182C>ACA486092869NPAS3c.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=)
14g.33800182C>GCA486092872NPAS3c.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=)
14g.33800182C>TCA486092870NPAS3c.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=)
14g.33800183C>ACA389412933NPAS3c.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)
14g.33800183C=CA2128327025NPAS3c.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=)
14g.33800183C>GCA389412934NPAS3c.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)
14g.33800183C>TCA7150902NPAS3c.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
14g.33800184T>ACA389412938NPAS3c.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)
14g.33800184T>CCA389412941NPAS3c.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)
14g.33800184T>GCA389412943NPAS3c.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)
14g.33800185G>ACA486092875NPAS3c.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
14g.33800185G>CCA486092876NPAS3c.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=)
14g.33800185G>TCA486092877NPAS3c.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=)
14g.33800186G>ACA389412944NPAS3c.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)
14g.33800186G>CCA389412945NPAS3c.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)
14g.33800186G>TCA389412947NPAS3c.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)
14g.33800187A=CA2128327029NPAS3c.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=)
14g.33800187A>CCA389412949NPAS3c.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
14g.33800187A>GCA389412950NPAS3c.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)
14g.33800187A>TCA389412951NPAS3c.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)
14g.33800188C>ACA389412953NPAS3c.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
14g.33800188C=CA2128327032NPAS3c.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=)
14g.33800188C>GCA389412955NPAS3c.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
14g.33800188C>TCA486092879NPAS3c.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
14g.33800189G>ACA389412956NPAS3c.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
14g.33800189G>CCA389412957NPAS3c.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)
14g.33800189G=CA2128327037NPAS3c.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=)
14g.33800189G>TCA389412959NPAS3c.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
14g.33800190C>ACA7150903NPAS3c.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
14g.33800190C=CA2128327039NPAS3c.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=)
14g.33800190C>GCA389412962NPAS3c.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
14g.33800190C>TCA389412964NPAS3c.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
14g.33800191G>ACA7150904NPAS3c.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
14g.33800191G>CCA486092884NPAS3c.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
14g.33800191G=CA2128327043NPAS3c.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=)
14g.33800191G>TCA486092885NPAS3c.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=)
14g.33800192G>ACA389412968NPAS3c.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)
14g.33800192G>CCA389412969NPAS3c.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)
14g.33800192G>TCA389412972NPAS3c.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)
14g.33800193G>ACA389412974NPAS3c.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
14g.33800193G>CCA389412976NPAS3c.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)
14g.33800193G=CA2128327047NPAS3c.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=)
14g.33800193G>TCA389412978NPAS3c.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)
14g.33800194C>ACA486092889NPAS3c.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=)
14g.33800194C>GCA486092890NPAS3c.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
14g.33800194C>TCA486092892NPAS3c.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=)
14g.33800195C>ACA389412979NPAS3c.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)
14g.33800195C=CA2128327052NPAS3c.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=)
14g.33800195C>GCA389412980NPAS3c.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)
14g.33800195C>TCA486092893NPAS3c.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
14g.33800196T>ACA389412983NPAS3c.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)
14g.33800196T>CCA389412985NPAS3c.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)
14g.33800196T>GCA389412987NPAS3c.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
14g.33800196T=CA2128327056NPAS3c.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=)
14g.33800197G>ACA486092898NPAS3c.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
14g.33800197G>CCA486092897NPAS3c.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=)
14g.33800197G>TCA486092899NPAS3c.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
14g.33800198G>ACA389412988NPAS3c.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)
14g.33800198G>CCA389412989NPAS3c.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
14g.33800198G=CA2128327060NPAS3c.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=)
14g.33800198G>TCA389412991NPAS3c.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
14g.33800199T>ACA389412993NPAS3c.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)
14g.33800199T>CCA389412995NPAS3c.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
14g.33800199T>GCA389412997NPAS3c.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
14g.33800199T=CA2128327063NPAS3c.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=)
14g.33800200G>ACA486092901NPAS3c.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
14g.33800200G>CCA486092902NPAS3c.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=)
14g.33800200G>TCA486092903NPAS3c.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=)
14g.33800201G>ACA389413000NPAS3c.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)
14g.33800201G>CCA389413002NPAS3c.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
14g.33800201G=CA2128327066NPAS3c.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=)
14g.33800201G>TCA389413004NPAS3c.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)
14g.33800202A>CCA389413008NPAS3c.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)
14g.33800202A>GCA389413010NPAS3c.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)
14g.33800202A>TCA389413006NPAS3c.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)
14g.33800203delCA2590793620NPAS3c.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
14g.33800203G>ACA486092905NPAS3c.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
14g.33800203G>CCA389413014NPAS3c.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)
14g.33800203G=CA2128327069NPAS3c.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=)
14g.33800203G>TCA389413012NPAS3c.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)
14g.33800204C>ACA389413016NPAS3c.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)
14g.33800204C>GCA389413018NPAS3c.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)
14g.33800204C>TCA389413020NPAS3c.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
14g.33800208delCA2624512028NPAS3c.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
14g.33800205C>ACA389413022NPAS3c.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
14g.33800205C>GCA389413024NPAS3c.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)
14g.33800205C>TCA389413026NPAS3c.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)
14g.33800206C>ACA486092906NPAS3c.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=)
14g.33800206C>GCA486092907NPAS3c.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=)
14g.33800206C>TCA486092909NPAS3c.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=)
14g.33800207C>ACA389413029NPAS3c.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)
14g.33800207C=CA2128327072NPAS3c.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=)
14g.33800207C>GCA389413030NPAS3c.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
14g.33800207C>TCA389413032NPAS3c.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)
14g.33800208C>ACA389413034NPAS3c.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
14g.33800208C=CA2128327075NPAS3c.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=)
14g.33800208C>GCA389413036NPAS3c.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
14g.33800208C>TCA389413038NPAS3c.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
14g.33800209G>ACA7150905NPAS3c.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
14g.33800209G>CCA486092910NPAS3c.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=)
14g.33800209G=CA2128327080NPAS3c.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=)
14g.33800209G>TCA486092911NPAS3c.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=)
14g.33800210C>ACA486092912NPAS3c.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=)
14g.33800210C>GCA389413041NPAS3c.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)
14g.33800210C>TCA389413042NPAS3c.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)
14g.33800211G>ACA7150906NPAS3c.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
14g.33800211G>CCA389413044NPAS3c.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)
14g.33800211G=CA2128327083NPAS3c.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=)
14g.33800211G>TCA389413045NPAS3c.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)
14g.33800212G>ACA486092916NPAS3c.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=)
14g.33800212G>CCA486092914NPAS3c.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
14g.33800212G>TCA486092913NPAS3c.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=)
14g.33800213C>ACA389413046NPAS3c.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)
14g.33800213C>GCA389413048NPAS3c.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)
14g.33800213C>TCA486092919NPAS3c.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=)
14g.33800214T>ACA389413051NPAS3c.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)
14g.33800214T>CCA389413053NPAS3c.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
14g.33800214T>GCA389413054NPAS3c.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)
14g.33800215G>ACA7150907NPAS3c.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
14g.33800215G>CCA486092920NPAS3c.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=)
14g.33800215G=CA2128327085NPAS3c.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=)
14g.33800215G>TCA486092922NPAS3c.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=)
14g.33800216C>ACA389413057NPAS3c.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)
14g.33800216C>GCA389413059NPAS3c.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)
14g.33800216C>TCA486092925NPAS3c.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=)
14g.33800217T>ACA389413064NPAS3c.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
14g.33800217T>CCA389413066NPAS3c.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
14g.33800217T>GCA389413063NPAS3c.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)
14g.33800217T=CA2128327091NPAS3c.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=)
14g.33800218G>ACA486092926NPAS3c.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=)
14g.33800218G>CCA486092927NPAS3c.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
14g.33800218G>TCA486092929NPAS3c.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=)
14g.33800219T>ACA389413068NPAS3c.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)
14g.33800219T>CCA389413070NPAS3c.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)
14g.33800219T>GCA389413072NPAS3c.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)
14g.33800220C>ACA7150908NPAS3c.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
14g.33800220C=CA2128327096NPAS3c.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=)
14g.33800220C>GCA389413073NPAS3c.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)
14g.33800220C>TCA389413075NPAS3c.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)
14g.33800221C>ACA486092932NPAS3c.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=)
14g.33800221C=CA2128327099NPAS3c.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=)
14g.33800221C>GCA486092933NPAS3c.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=)
14g.33800221C>TCA258718907NPAS3c.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
14g.33800222T>ACA389413078NPAS3c.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
14g.33800222T>CCA389413079NPAS3c.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
14g.33800222T>GCA389413082NPAS3c.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)
14g.33800222T=CA2128327104NPAS3c.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=)
14g.33800223C>ACA389413084NPAS3c.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
14g.33800223C=CA2128327110NPAS3c.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=)
14g.33800223C>GCA389413086NPAS3c.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)
14g.33800223C>TCA389413088NPAS3c.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
14g.33800224C>ACA486092936NPAS3c.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
14g.33800224C=CA2128327115NPAS3c.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=)
14g.33800224C>GCA486092937NPAS3c.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=)
14g.33800224C>TCA486092938NPAS3c.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=)
14g.33800225C>ACA389413092NPAS3c.1918C>A (p.Pro640Thr)
c.1927C>A (p.Pro643Thr)
c.1818C>A
c.793+2644C>A
c.1822C>A (p.Pro608Thr)
c.1879C>A (p.Pro627Thr)
c.1828C>A (p.Pro610Thr)
c.1933C>A (p.Pro645Thr)
c.1840C>A (p.Pro614Thr)
c.1939C>A (p.Pro647Thr)
c.1969C>A (p.Pro657Thr)
c.1960C>A (p.Pro654Thr)
c.1930C>A (p.Pro644Thr)
c.1873C>A (p.Pro625Thr)
c.1819C>A (p.Pro607Thr)
c.1612C>A (p.Pro538Thr)
c.2026C>A (p.Pro676Thr)
c.2020C>A (p.Pro674Thr)
c.2017C>A (p.Pro673Thr)
c.2077C>A (p.Pro693Thr)
c.2068C>A (p.Pro690Thr)
c.1987C>A (p.Pro663Thr)
c.1936C>A (p.Pro646Thr)
14g.33800225C>GCA389413093NPAS3c.1918C>G (p.Pro640Ala)
c.1927C>G (p.Pro643Ala)
c.1818C>G
c.793+2644C>G
c.1822C>G (p.Pro608Ala)
c.1879C>G (p.Pro627Ala)
c.1828C>G (p.Pro610Ala)
c.1933C>G (p.Pro645Ala)
c.1840C>G (p.Pro614Ala)
c.1939C>G (p.Pro647Ala)
c.1969C>G (p.Pro657Ala)
c.1960C>G (p.Pro654Ala)
c.1930C>G (p.Pro644Ala)
c.1873C>G (p.Pro625Ala)
c.1819C>G (p.Pro607Ala)
c.1612C>G (p.Pro538Ala)
c.2026C>G (p.Pro676Ala)
c.2020C>G (p.Pro674Ala)
c.2017C>G (p.Pro673Ala)
c.2077C>G (p.Pro693Ala)
c.2068C>G (p.Pro690Ala)
c.1987C>G (p.Pro663Ala)
c.1936C>G (p.Pro646Ala)
14g.33800225C>TCA389413090NPAS3c.1918C>T (p.Pro640Ser)
c.1927C>T (p.Pro643Ser)
c.1818C>T
c.793+2644C>T
c.1822C>T (p.Pro608Ser)
c.1879C>T (p.Pro627Ser)
c.1828C>T (p.Pro610Ser)
c.1933C>T (p.Pro645Ser)
c.1840C>T (p.Pro614Ser)
c.1939C>T (p.Pro647Ser)
c.1969C>T (p.Pro657Ser)
c.1960C>T (p.Pro654Ser)
c.1930C>T (p.Pro644Ser)
c.1873C>T (p.Pro625Ser)
c.1819C>T (p.Pro607Ser)
c.1612C>T (p.Pro538Ser)
c.2026C>T (p.Pro676Ser)
c.2020C>T (p.Pro674Ser)
c.2017C>T (p.Pro673Ser)
c.2077C>T (p.Pro693Ser)
c.2068C>T (p.Pro690Ser)
c.1987C>T (p.Pro663Ser)
c.1936C>T (p.Pro646Ser)
 COSMIC COSMIC COSMIC
14g.33800226C>ACA389413094NPAS3c.1919C>A (p.Pro640His)
c.1928C>A (p.Pro643His)
c.1819C>A
c.793+2645C>A
c.1823C>A (p.Pro608His)
c.1880C>A (p.Pro627His)
c.1829C>A (p.Pro610His)
c.1934C>A (p.Pro645His)
c.1841C>A (p.Pro614His)
c.1940C>A (p.Pro647His)
c.1970C>A (p.Pro657His)
c.1961C>A (p.Pro654His)
c.1931C>A (p.Pro644His)
c.1874C>A (p.Pro625His)
c.1820C>A (p.Pro607His)
c.1613C>A (p.Pro538His)
c.2027C>A (p.Pro676His)
c.2021C>A (p.Pro674His)
c.2018C>A (p.Pro673His)
c.2078C>A (p.Pro693His)
c.2069C>A (p.Pro690His)
c.1988C>A (p.Pro663His)
c.1937C>A (p.Pro646His)
14g.33800226C=CA2128327119NPAS3c.1919C= (p.Pro640=)
c.1928C= (p.Pro643=)
c.1819C=
c.793+2645C=
c.1823C= (p.Pro608=)
c.1880C= (p.Pro627=)
c.1829C= (p.Pro610=)
c.1934C= (p.Pro645=)
c.1841C= (p.Pro614=)
c.1940C= (p.Pro647=)
c.1970C= (p.Pro657=)
c.1961C= (p.Pro654=)
c.1931C= (p.Pro644=)
c.1874C= (p.Pro625=)
c.1820C= (p.Pro607=)
c.1613C= (p.Pro538=)
c.2027C= (p.Pro676=)
c.2021C= (p.Pro674=)
c.2018C= (p.Pro673=)
c.2078C= (p.Pro693=)
c.2069C= (p.Pro690=)
c.1988C= (p.Pro663=)
c.1937C= (p.Pro646=)
14g.33800226C>GCA258718913NPAS3c.1919C>G (p.Pro640Arg)
c.1928C>G (p.Pro643Arg)
c.1819C>G
c.793+2645C>G
c.1823C>G (p.Pro608Arg)
c.1880C>G (p.Pro627Arg)
c.1829C>G (p.Pro610Arg)
c.1934C>G (p.Pro645Arg)
c.1841C>G (p.Pro614Arg)
c.1940C>G (p.Pro647Arg)
c.1970C>G (p.Pro657Arg)
c.1961C>G (p.Pro654Arg)
c.1931C>G (p.Pro644Arg)
c.1874C>G (p.Pro625Arg)
c.1820C>G (p.Pro607Arg)
c.1613C>G (p.Pro538Arg)
c.2027C>G (p.Pro676Arg)
c.2021C>G (p.Pro674Arg)
c.2018C>G (p.Pro673Arg)
c.2078C>G (p.Pro693Arg)
c.2069C>G (p.Pro690Arg)
c.1988C>G (p.Pro663Arg)
c.1937C>G (p.Pro646Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800226C>TCA7150909NPAS3c.1919C>T (p.Pro640Leu)
c.1928C>T (p.Pro643Leu)
c.1819C>T
c.793+2645C>T
c.1823C>T (p.Pro608Leu)
c.1880C>T (p.Pro627Leu)
c.1829C>T (p.Pro610Leu)
c.1934C>T (p.Pro645Leu)
c.1841C>T (p.Pro614Leu)
c.1940C>T (p.Pro647Leu)
c.1970C>T (p.Pro657Leu)
c.1961C>T (p.Pro654Leu)
c.1931C>T (p.Pro644Leu)
c.1874C>T (p.Pro625Leu)
c.1820C>T (p.Pro607Leu)
c.1613C>T (p.Pro538Leu)
c.2027C>T (p.Pro676Leu)
c.2021C>T (p.Pro674Leu)
c.2018C>T (p.Pro673Leu)
c.2078C>T (p.Pro693Leu)
c.2069C>T (p.Pro690Leu)
c.1988C>T (p.Pro663Leu)
c.1937C>T (p.Pro646Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800227C>ACA486092940NPAS3c.1920C>A (p.Pro640=)
c.1929C>A (p.Pro643=)
c.1820C>A
c.793+2646C>A
c.1824C>A (p.Pro608=)
c.1881C>A (p.Pro627=)
c.1830C>A (p.Pro610=)
c.1935C>A (p.Pro645=)
c.1842C>A (p.Pro614=)
c.1941C>A (p.Pro647=)
c.1971C>A (p.Pro657=)
c.1962C>A (p.Pro654=)
c.1932C>A (p.Pro644=)
c.1875C>A (p.Pro625=)
c.1821C>A (p.Pro607=)
c.1614C>A (p.Pro538=)
c.2028C>A (p.Pro676=)
c.2022C>A (p.Pro674=)
c.2019C>A (p.Pro673=)
c.2079C>A (p.Pro693=)
c.2070C>A (p.Pro690=)
c.1989C>A (p.Pro663=)
c.1938C>A (p.Pro646=)
14g.33800227C=CA2128327122NPAS3c.1920C= (p.Pro640=)
c.1929C= (p.Pro643=)
c.1820C=
c.793+2646C=
c.1824C= (p.Pro608=)
c.1881C= (p.Pro627=)
c.1830C= (p.Pro610=)
c.1935C= (p.Pro645=)
c.1842C= (p.Pro614=)
c.1941C= (p.Pro647=)
c.1971C= (p.Pro657=)
c.1962C= (p.Pro654=)
c.1932C= (p.Pro644=)
c.1875C= (p.Pro625=)
c.1821C= (p.Pro607=)
c.1614C= (p.Pro538=)
c.2028C= (p.Pro676=)
c.2022C= (p.Pro674=)
c.2019C= (p.Pro673=)
c.2079C= (p.Pro693=)
c.2070C= (p.Pro690=)
c.1989C= (p.Pro663=)
c.1938C= (p.Pro646=)
14g.33800227C>GCA486092941NPAS3c.1920C>G (p.Pro640=)
c.1929C>G (p.Pro643=)
c.1820C>G
c.793+2646C>G
c.1824C>G (p.Pro608=)
c.1881C>G (p.Pro627=)
c.1830C>G (p.Pro610=)
c.1935C>G (p.Pro645=)
c.1842C>G (p.Pro614=)
c.1941C>G (p.Pro647=)
c.1971C>G (p.Pro657=)
c.1962C>G (p.Pro654=)
c.1932C>G (p.Pro644=)
c.1875C>G (p.Pro625=)
c.1821C>G (p.Pro607=)
c.1614C>G (p.Pro538=)
c.2028C>G (p.Pro676=)
c.2022C>G (p.Pro674=)
c.2019C>G (p.Pro673=)
c.2079C>G (p.Pro693=)
c.2070C>G (p.Pro690=)
c.1989C>G (p.Pro663=)
c.1938C>G (p.Pro646=)
14g.33800227C>TCA7150910NPAS3c.1920C>T (p.Pro640=)
c.1929C>T (p.Pro643=)
c.1820C>T
c.793+2646C>T
c.1824C>T (p.Pro608=)
c.1881C>T (p.Pro627=)
c.1830C>T (p.Pro610=)
c.1935C>T (p.Pro645=)
c.1842C>T (p.Pro614=)
c.1941C>T (p.Pro647=)
c.1971C>T (p.Pro657=)
c.1962C>T (p.Pro654=)
c.1932C>T (p.Pro644=)
c.1875C>T (p.Pro625=)
c.1821C>T (p.Pro607=)
c.1614C>T (p.Pro538=)
c.2028C>T (p.Pro676=)
c.2022C>T (p.Pro674=)
c.2019C>T (p.Pro673=)
c.2079C>T (p.Pro693=)
c.2070C>T (p.Pro690=)
c.1989C>T (p.Pro663=)
c.1938C>T (p.Pro646=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800228A=CA2128327125NPAS3c.1921A= (p.Asn641=)
c.1930A= (p.Asn644=)
c.1821A=
c.793+2647A=
c.1825A= (p.Asn609=)
c.1882A= (p.Asn628=)
c.1831A= (p.Asn611=)
c.1936A= (p.Asn646=)
c.1843A= (p.Asn615=)
c.1942A= (p.Asn648=)
c.1972A= (p.Asn658=)
c.1963A= (p.Asn655=)
c.1933A= (p.Asn645=)
c.1876A= (p.Asn626=)
c.1822A= (p.Asn608=)
c.1615A= (p.Asn539=)
c.2029A= (p.Asn677=)
c.2023A= (p.Asn675=)
c.2020A= (p.Asn674=)
c.2080A= (p.Asn694=)
c.2071A= (p.Asn691=)
c.1990A= (p.Asn664=)
c.1939A= (p.Asn647=)
14g.33800228A>CCA389413100NPAS3c.1921A>C (p.Asn641His)
c.1930A>C (p.Asn644His)
c.1821A>C
c.793+2647A>C
c.1825A>C (p.Asn609His)
c.1882A>C (p.Asn628His)
c.1831A>C (p.Asn611His)
c.1936A>C (p.Asn646His)
c.1843A>C (p.Asn615His)
c.1942A>C (p.Asn648His)
c.1972A>C (p.Asn658His)
c.1963A>C (p.Asn655His)
c.1933A>C (p.Asn645His)
c.1876A>C (p.Asn626His)
c.1822A>C (p.Asn608His)
c.1615A>C (p.Asn539His)
c.2029A>C (p.Asn677His)
c.2023A>C (p.Asn675His)
c.2020A>C (p.Asn674His)
c.2080A>C (p.Asn694His)
c.2071A>C (p.Asn691His)
c.1990A>C (p.Asn664His)
c.1939A>C (p.Asn647His)
14g.33800228A>GCA389413101NPAS3c.1921A>G (p.Asn641Asp)
c.1930A>G (p.Asn644Asp)
c.1821A>G
c.793+2647A>G
c.1825A>G (p.Asn609Asp)
c.1882A>G (p.Asn628Asp)
c.1831A>G (p.Asn611Asp)
c.1936A>G (p.Asn646Asp)
c.1843A>G (p.Asn615Asp)
c.1942A>G (p.Asn648Asp)
c.1972A>G (p.Asn658Asp)
c.1963A>G (p.Asn655Asp)
c.1933A>G (p.Asn645Asp)
c.1876A>G (p.Asn626Asp)
c.1822A>G (p.Asn608Asp)
c.1615A>G (p.Asn539Asp)
c.2029A>G (p.Asn677Asp)
c.2023A>G (p.Asn675Asp)
c.2020A>G (p.Asn674Asp)
c.2080A>G (p.Asn694Asp)
c.2071A>G (p.Asn691Asp)
c.1990A>G (p.Asn664Asp)
c.1939A>G (p.Asn647Asp)
 dbSNP gnomAD v3 gnomAD v4
14g.33800228A>TCA389413104NPAS3c.1921A>T (p.Asn641Tyr)
c.1930A>T (p.Asn644Tyr)
c.1821A>T
c.793+2647A>T
c.1825A>T (p.Asn609Tyr)
c.1882A>T (p.Asn628Tyr)
c.1831A>T (p.Asn611Tyr)
c.1936A>T (p.Asn646Tyr)
c.1843A>T (p.Asn615Tyr)
c.1942A>T (p.Asn648Tyr)
c.1972A>T (p.Asn658Tyr)
c.1963A>T (p.Asn655Tyr)
c.1933A>T (p.Asn645Tyr)
c.1876A>T (p.Asn626Tyr)
c.1822A>T (p.Asn608Tyr)
c.1615A>T (p.Asn539Tyr)
c.2029A>T (p.Asn677Tyr)
c.2023A>T (p.Asn675Tyr)
c.2020A>T (p.Asn674Tyr)
c.2080A>T (p.Asn694Tyr)
c.2071A>T (p.Asn691Tyr)
c.1990A>T (p.Asn664Tyr)
c.1939A>T (p.Asn647Tyr)
14g.33800229A=CA2128327127NPAS3c.1922A= (p.Asn641=)
c.1931A= (p.Asn644=)
c.1822A=
c.793+2648A=
c.1826A= (p.Asn609=)
c.1883A= (p.Asn628=)
c.1832A= (p.Asn611=)
c.1937A= (p.Asn646=)
c.1844A= (p.Asn615=)
c.1943A= (p.Asn648=)
c.1973A= (p.Asn658=)
c.1964A= (p.Asn655=)
c.1934A= (p.Asn645=)
c.1877A= (p.Asn626=)
c.1823A= (p.Asn608=)
c.1616A= (p.Asn539=)
c.2030A= (p.Asn677=)
c.2024A= (p.Asn675=)
c.2021A= (p.Asn674=)
c.2081A= (p.Asn694=)
c.2072A= (p.Asn691=)
c.1991A= (p.Asn664=)
c.1940A= (p.Asn647=)
14g.33800229A>CCA389413106NPAS3c.1922A>C (p.Asn641Thr)
c.1931A>C (p.Asn644Thr)
c.1822A>C
c.793+2648A>C
c.1826A>C (p.Asn609Thr)
c.1883A>C (p.Asn628Thr)
c.1832A>C (p.Asn611Thr)
c.1937A>C (p.Asn646Thr)
c.1844A>C (p.Asn615Thr)
c.1943A>C (p.Asn648Thr)
c.1973A>C (p.Asn658Thr)
c.1964A>C (p.Asn655Thr)
c.1934A>C (p.Asn645Thr)
c.1877A>C (p.Asn626Thr)
c.1823A>C (p.Asn608Thr)
c.1616A>C (p.Asn539Thr)
c.2030A>C (p.Asn677Thr)
c.2024A>C (p.Asn675Thr)
c.2021A>C (p.Asn674Thr)
c.2081A>C (p.Asn694Thr)
c.2072A>C (p.Asn691Thr)
c.1991A>C (p.Asn664Thr)
c.1940A>C (p.Asn647Thr)
14g.33800229A>GCA7150911NPAS3c.1922A>G (p.Asn641Ser)
c.1931A>G (p.Asn644Ser)
c.1822A>G
c.793+2648A>G
c.1826A>G (p.Asn609Ser)
c.1883A>G (p.Asn628Ser)
c.1832A>G (p.Asn611Ser)
c.1937A>G (p.Asn646Ser)
c.1844A>G (p.Asn615Ser)
c.1943A>G (p.Asn648Ser)
c.1973A>G (p.Asn658Ser)
c.1964A>G (p.Asn655Ser)
c.1934A>G (p.Asn645Ser)
c.1877A>G (p.Asn626Ser)
c.1823A>G (p.Asn608Ser)
c.1616A>G (p.Asn539Ser)
c.2030A>G (p.Asn677Ser)
c.2024A>G (p.Asn675Ser)
c.2021A>G (p.Asn674Ser)
c.2081A>G (p.Asn694Ser)
c.2072A>G (p.Asn691Ser)
c.1991A>G (p.Asn664Ser)
c.1940A>G (p.Asn647Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800229A>TCA389413108NPAS3c.1922A>T (p.Asn641Ile)
c.1931A>T (p.Asn644Ile)
c.1822A>T
c.793+2648A>T
c.1826A>T (p.Asn609Ile)
c.1883A>T (p.Asn628Ile)
c.1832A>T (p.Asn611Ile)
c.1937A>T (p.Asn646Ile)
c.1844A>T (p.Asn615Ile)
c.1943A>T (p.Asn648Ile)
c.1973A>T (p.Asn658Ile)
c.1964A>T (p.Asn655Ile)
c.1934A>T (p.Asn645Ile)
c.1877A>T (p.Asn626Ile)
c.1823A>T (p.Asn608Ile)
c.1616A>T (p.Asn539Ile)
c.2030A>T (p.Asn677Ile)
c.2024A>T (p.Asn675Ile)
c.2021A>T (p.Asn674Ile)
c.2081A>T (p.Asn694Ile)
c.2072A>T (p.Asn691Ile)
c.1991A>T (p.Asn664Ile)
c.1940A>T (p.Asn647Ile)
 gnomAD v4
14g.33800230C>ACA389413111NPAS3c.1923C>A (p.Asn641Lys)
c.1932C>A (p.Asn644Lys)
c.1823C>A
c.793+2649C>A
c.1827C>A (p.Asn609Lys)
c.1884C>A (p.Asn628Lys)
c.1833C>A (p.Asn611Lys)
c.1938C>A (p.Asn646Lys)
c.1845C>A (p.Asn615Lys)
c.1944C>A (p.Asn648Lys)
c.1974C>A (p.Asn658Lys)
c.1965C>A (p.Asn655Lys)
c.1935C>A (p.Asn645Lys)
c.1878C>A (p.Asn626Lys)
c.1824C>A (p.Asn608Lys)
c.1617C>A (p.Asn539Lys)
c.2031C>A (p.Asn677Lys)
c.2025C>A (p.Asn675Lys)
c.2022C>A (p.Asn674Lys)
c.2082C>A (p.Asn694Lys)
c.2073C>A (p.Asn691Lys)
c.1992C>A (p.Asn664Lys)
c.1941C>A (p.Asn647Lys)
14g.33800230C>GCA389413113NPAS3c.1923C>G (p.Asn641Lys)
c.1932C>G (p.Asn644Lys)
c.1823C>G
c.793+2649C>G
c.1827C>G (p.Asn609Lys)
c.1884C>G (p.Asn628Lys)
c.1833C>G (p.Asn611Lys)
c.1938C>G (p.Asn646Lys)
c.1845C>G (p.Asn615Lys)
c.1944C>G (p.Asn648Lys)
c.1974C>G (p.Asn658Lys)
c.1965C>G (p.Asn655Lys)
c.1935C>G (p.Asn645Lys)
c.1878C>G (p.Asn626Lys)
c.1824C>G (p.Asn608Lys)
c.1617C>G (p.Asn539Lys)
c.2031C>G (p.Asn677Lys)
c.2025C>G (p.Asn675Lys)
c.2022C>G (p.Asn674Lys)
c.2082C>G (p.Asn694Lys)
c.2073C>G (p.Asn691Lys)
c.1992C>G (p.Asn664Lys)
c.1941C>G (p.Asn647Lys)
 gnomAD v4
14g.33800230C>TCA486092942NPAS3c.1923C>T (p.Asn641=)
c.1932C>T (p.Asn644=)
c.1823C>T
c.793+2649C>T
c.1827C>T (p.Asn609=)
c.1884C>T (p.Asn628=)
c.1833C>T (p.Asn611=)
c.1938C>T (p.Asn646=)
c.1845C>T (p.Asn615=)
c.1944C>T (p.Asn648=)
c.1974C>T (p.Asn658=)
c.1965C>T (p.Asn655=)
c.1935C>T (p.Asn645=)
c.1878C>T (p.Asn626=)
c.1824C>T (p.Asn608=)
c.1617C>T (p.Asn539=)
c.2031C>T (p.Asn677=)
c.2025C>T (p.Asn675=)
c.2022C>T (p.Asn674=)
c.2082C>T (p.Asn694=)
c.2073C>T (p.Asn691=)
c.1992C>T (p.Asn664=)
c.1941C>T (p.Asn647=)
14g.33800231A>CCA389413115NPAS3c.1924A>C (p.Ser642Arg)
c.1933A>C (p.Ser645Arg)
c.1824A>C
c.793+2650A>C
c.1828A>C (p.Ser610Arg)
c.1885A>C (p.Ser629Arg)
c.1834A>C (p.Ser612Arg)
c.1939A>C (p.Ser647Arg)
c.1846A>C (p.Ser616Arg)
c.1945A>C (p.Ser649Arg)
c.1975A>C (p.Ser659Arg)
c.1966A>C (p.Ser656Arg)
c.1936A>C (p.Ser646Arg)
c.1879A>C (p.Ser627Arg)
c.1825A>C (p.Ser609Arg)
c.1618A>C (p.Ser540Arg)
c.2032A>C (p.Ser678Arg)
c.2026A>C (p.Ser676Arg)
c.2023A>C (p.Ser675Arg)
c.2083A>C (p.Ser695Arg)
c.2074A>C (p.Ser692Arg)
c.1993A>C (p.Ser665Arg)
c.1942A>C (p.Ser648Arg)
14g.33800231A>GCA389413117NPAS3c.1924A>G (p.Ser642Gly)
c.1933A>G (p.Ser645Gly)
c.1824A>G
c.793+2650A>G
c.1828A>G (p.Ser610Gly)
c.1885A>G (p.Ser629Gly)
c.1834A>G (p.Ser612Gly)
c.1939A>G (p.Ser647Gly)
c.1846A>G (p.Ser616Gly)
c.1945A>G (p.Ser649Gly)
c.1975A>G (p.Ser659Gly)
c.1966A>G (p.Ser656Gly)
c.1936A>G (p.Ser646Gly)
c.1879A>G (p.Ser627Gly)
c.1825A>G (p.Ser609Gly)
c.1618A>G (p.Ser540Gly)
c.2032A>G (p.Ser678Gly)
c.2026A>G (p.Ser676Gly)
c.2023A>G (p.Ser675Gly)
c.2083A>G (p.Ser695Gly)
c.2074A>G (p.Ser692Gly)
c.1993A>G (p.Ser665Gly)
c.1942A>G (p.Ser648Gly)
14g.33800231A>TCA389413118NPAS3c.1924A>T (p.Ser642Cys)
c.1933A>T (p.Ser645Cys)
c.1824A>T
c.793+2650A>T
c.1828A>T (p.Ser610Cys)
c.1885A>T (p.Ser629Cys)
c.1834A>T (p.Ser612Cys)
c.1939A>T (p.Ser647Cys)
c.1846A>T (p.Ser616Cys)
c.1945A>T (p.Ser649Cys)
c.1975A>T (p.Ser659Cys)
c.1966A>T (p.Ser656Cys)
c.1936A>T (p.Ser646Cys)
c.1879A>T (p.Ser627Cys)
c.1825A>T (p.Ser609Cys)
c.1618A>T (p.Ser540Cys)
c.2032A>T (p.Ser678Cys)
c.2026A>T (p.Ser676Cys)
c.2023A>T (p.Ser675Cys)
c.2083A>T (p.Ser695Cys)
c.2074A>T (p.Ser692Cys)
c.1993A>T (p.Ser665Cys)
c.1942A>T (p.Ser648Cys)
14g.33800232G>ACA389413123NPAS3c.1925G>A (p.Ser642Asn)
c.1934G>A (p.Ser645Asn)
c.1825G>A
c.793+2651G>A
c.1829G>A (p.Ser610Asn)
c.1886G>A (p.Ser629Asn)
c.1835G>A (p.Ser612Asn)
c.1940G>A (p.Ser647Asn)
c.1847G>A (p.Ser616Asn)
c.1946G>A (p.Ser649Asn)
c.1976G>A (p.Ser659Asn)
c.1967G>A (p.Ser656Asn)
c.1937G>A (p.Ser646Asn)
c.1880G>A (p.Ser627Asn)
c.1826G>A (p.Ser609Asn)
c.1619G>A (p.Ser540Asn)
c.2033G>A (p.Ser678Asn)
c.2027G>A (p.Ser676Asn)
c.2024G>A (p.Ser675Asn)
c.2084G>A (p.Ser695Asn)
c.2075G>A (p.Ser692Asn)
c.1994G>A (p.Ser665Asn)
c.1943G>A (p.Ser648Asn)
 gnomAD v4
14g.33800232G>CCA389413122NPAS3c.1925G>C (p.Ser642Thr)
c.1934G>C (p.Ser645Thr)
c.1825G>C
c.793+2651G>C
c.1829G>C (p.Ser610Thr)
c.1886G>C (p.Ser629Thr)
c.1835G>C (p.Ser612Thr)
c.1940G>C (p.Ser647Thr)
c.1847G>C (p.Ser616Thr)
c.1946G>C (p.Ser649Thr)
c.1976G>C (p.Ser659Thr)
c.1967G>C (p.Ser656Thr)
c.1937G>C (p.Ser646Thr)
c.1880G>C (p.Ser627Thr)
c.1826G>C (p.Ser609Thr)
c.1619G>C (p.Ser540Thr)
c.2033G>C (p.Ser678Thr)
c.2027G>C (p.Ser676Thr)
c.2024G>C (p.Ser675Thr)
c.2084G>C (p.Ser695Thr)
c.2075G>C (p.Ser692Thr)
c.1994G>C (p.Ser665Thr)
c.1943G>C (p.Ser648Thr)
14g.33800232G>TCA389413121NPAS3c.1925G>T (p.Ser642Ile)
c.1934G>T (p.Ser645Ile)
c.1825G>T
c.793+2651G>T
c.1829G>T (p.Ser610Ile)
c.1886G>T (p.Ser629Ile)
c.1835G>T (p.Ser612Ile)
c.1940G>T (p.Ser647Ile)
c.1847G>T (p.Ser616Ile)
c.1946G>T (p.Ser649Ile)
c.1976G>T (p.Ser659Ile)
c.1967G>T (p.Ser656Ile)
c.1937G>T (p.Ser646Ile)
c.1880G>T (p.Ser627Ile)
c.1826G>T (p.Ser609Ile)
c.1619G>T (p.Ser540Ile)
c.2033G>T (p.Ser678Ile)
c.2027G>T (p.Ser676Ile)
c.2024G>T (p.Ser675Ile)
c.2084G>T (p.Ser695Ile)
c.2075G>T (p.Ser692Ile)
c.1994G>T (p.Ser665Ile)
c.1943G>T (p.Ser648Ile)
14g.33800233T>ACA389413128NPAS3c.1926T>A (p.Ser642Arg)
c.1935T>A (p.Ser645Arg)
c.1826T>A
c.793+2652T>A
c.1830T>A (p.Ser610Arg)
c.1887T>A (p.Ser629Arg)
c.1836T>A (p.Ser612Arg)
c.1941T>A (p.Ser647Arg)
c.1848T>A (p.Ser616Arg)
c.1947T>A (p.Ser649Arg)
c.1977T>A (p.Ser659Arg)
c.1968T>A (p.Ser656Arg)
c.1938T>A (p.Ser646Arg)
c.1881T>A (p.Ser627Arg)
c.1827T>A (p.Ser609Arg)
c.1620T>A (p.Ser540Arg)
c.2034T>A (p.Ser678Arg)
c.2028T>A (p.Ser676Arg)
c.2025T>A (p.Ser675Arg)
c.2085T>A (p.Ser695Arg)
c.2076T>A (p.Ser692Arg)
c.1995T>A (p.Ser665Arg)
c.1944T>A (p.Ser648Arg)
14g.33800233T>CCA486092946NPAS3c.1926T>C (p.Ser642=)
c.1935T>C (p.Ser645=)
c.1826T>C
c.793+2652T>C
c.1830T>C (p.Ser610=)
c.1887T>C (p.Ser629=)
c.1836T>C (p.Ser612=)
c.1941T>C (p.Ser647=)
c.1848T>C (p.Ser616=)
c.1947T>C (p.Ser649=)
c.1977T>C (p.Ser659=)
c.1968T>C (p.Ser656=)
c.1938T>C (p.Ser646=)
c.1881T>C (p.Ser627=)
c.1827T>C (p.Ser609=)
c.1620T>C (p.Ser540=)
c.2034T>C (p.Ser678=)
c.2028T>C (p.Ser676=)
c.2025T>C (p.Ser675=)
c.2085T>C (p.Ser695=)
c.2076T>C (p.Ser692=)
c.1995T>C (p.Ser665=)
c.1944T>C (p.Ser648=)
 dbSNP gnomAD v3 gnomAD v4
14g.33800233T>GCA389413126NPAS3c.1926T>G (p.Ser642Arg)
c.1935T>G (p.Ser645Arg)
c.1826T>G
c.793+2652T>G
c.1830T>G (p.Ser610Arg)
c.1887T>G (p.Ser629Arg)
c.1836T>G (p.Ser612Arg)
c.1941T>G (p.Ser647Arg)
c.1848T>G (p.Ser616Arg)
c.1947T>G (p.Ser649Arg)
c.1977T>G (p.Ser659Arg)
c.1968T>G (p.Ser656Arg)
c.1938T>G (p.Ser646Arg)
c.1881T>G (p.Ser627Arg)
c.1827T>G (p.Ser609Arg)
c.1620T>G (p.Ser540Arg)
c.2034T>G (p.Ser678Arg)
c.2028T>G (p.Ser676Arg)
c.2025T>G (p.Ser675Arg)
c.2085T>G (p.Ser695Arg)
c.2076T>G (p.Ser692Arg)
c.1995T>G (p.Ser665Arg)
c.1944T>G (p.Ser648Arg)
14g.33800233T=CA2128327130NPAS3c.1926T= (p.Ser642=)
c.1935T= (p.Ser645=)
c.1826T=
c.793+2652T=
c.1830T= (p.Ser610=)
c.1887T= (p.Ser629=)
c.1836T= (p.Ser612=)
c.1941T= (p.Ser647=)
c.1848T= (p.Ser616=)
c.1947T= (p.Ser649=)
c.1977T= (p.Ser659=)
c.1968T= (p.Ser656=)
c.1938T= (p.Ser646=)
c.1881T= (p.Ser627=)
c.1827T= (p.Ser609=)
c.1620T= (p.Ser540=)
c.2034T= (p.Ser678=)
c.2028T= (p.Ser676=)
c.2025T= (p.Ser675=)
c.2085T= (p.Ser695=)
c.2076T= (p.Ser692=)
c.1995T= (p.Ser665=)
c.1944T= (p.Ser648=)
14g.33800234G>ACA389413136NPAS3c.1927G>A (p.Ala643Thr)
c.1936G>A (p.Ala646Thr)
c.1827G>A
c.793+2653G>A
c.1831G>A (p.Ala611Thr)
c.1888G>A (p.Ala630Thr)
c.1837G>A (p.Ala613Thr)
c.1942G>A (p.Ala648Thr)
c.1849G>A (p.Ala617Thr)
c.1948G>A (p.Ala650Thr)
c.1978G>A (p.Ala660Thr)
c.1969G>A (p.Ala657Thr)
c.1939G>A (p.Ala647Thr)
c.1882G>A (p.Ala628Thr)
c.1828G>A (p.Ala610Thr)
c.1621G>A (p.Ala541Thr)
c.2035G>A (p.Ala679Thr)
c.2029G>A (p.Ala677Thr)
c.2026G>A (p.Ala676Thr)
c.2086G>A (p.Ala696Thr)
c.2077G>A (p.Ala693Thr)
c.1996G>A (p.Ala666Thr)
c.1945G>A (p.Ala649Thr)
14g.33800234G>CCA389413129NPAS3c.1927G>C (p.Ala643Pro)
c.1936G>C (p.Ala646Pro)
c.1827G>C
c.793+2653G>C
c.1831G>C (p.Ala611Pro)
c.1888G>C (p.Ala630Pro)
c.1837G>C (p.Ala613Pro)
c.1942G>C (p.Ala648Pro)
c.1849G>C (p.Ala617Pro)
c.1948G>C (p.Ala650Pro)
c.1978G>C (p.Ala660Pro)
c.1969G>C (p.Ala657Pro)
c.1939G>C (p.Ala647Pro)
c.1882G>C (p.Ala628Pro)
c.1828G>C (p.Ala610Pro)
c.1621G>C (p.Ala541Pro)
c.2035G>C (p.Ala679Pro)
c.2029G>C (p.Ala677Pro)
c.2026G>C (p.Ala676Pro)
c.2086G>C (p.Ala696Pro)
c.2077G>C (p.Ala693Pro)
c.1996G>C (p.Ala666Pro)
c.1945G>C (p.Ala649Pro)
14g.33800234G>TCA389413134NPAS3c.1927G>T (p.Ala643Ser)
c.1936G>T (p.Ala646Ser)
c.1827G>T
c.793+2653G>T
c.1831G>T (p.Ala611Ser)
c.1888G>T (p.Ala630Ser)
c.1837G>T (p.Ala613Ser)
c.1942G>T (p.Ala648Ser)
c.1849G>T (p.Ala617Ser)
c.1948G>T (p.Ala650Ser)
c.1978G>T (p.Ala660Ser)
c.1969G>T (p.Ala657Ser)
c.1939G>T (p.Ala647Ser)
c.1882G>T (p.Ala628Ser)
c.1828G>T (p.Ala610Ser)
c.1621G>T (p.Ala541Ser)
c.2035G>T (p.Ala679Ser)
c.2029G>T (p.Ala677Ser)
c.2026G>T (p.Ala676Ser)
c.2086G>T (p.Ala696Ser)
c.2077G>T (p.Ala693Ser)
c.1996G>T (p.Ala666Ser)
c.1945G>T (p.Ala649Ser)
14g.33800235C>ACA389413138NPAS3c.1928C>A (p.Ala643Asp)
c.1937C>A (p.Ala646Asp)
c.1828C>A
c.793+2654C>A
c.1832C>A (p.Ala611Asp)
c.1889C>A (p.Ala630Asp)
c.1838C>A (p.Ala613Asp)
c.1943C>A (p.Ala648Asp)
c.1850C>A (p.Ala617Asp)
c.1949C>A (p.Ala650Asp)
c.1979C>A (p.Ala660Asp)
c.1970C>A (p.Ala657Asp)
c.1940C>A (p.Ala647Asp)
c.1883C>A (p.Ala628Asp)
c.1829C>A (p.Ala610Asp)
c.1622C>A (p.Ala541Asp)
c.2036C>A (p.Ala679Asp)
c.2030C>A (p.Ala677Asp)
c.2027C>A (p.Ala676Asp)
c.2087C>A (p.Ala696Asp)
c.2078C>A (p.Ala693Asp)
c.1997C>A (p.Ala666Asp)
c.1946C>A (p.Ala649Asp)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800235C>GCA389413140NPAS3c.1928C>G (p.Ala643Gly)
c.1937C>G (p.Ala646Gly)
c.1828C>G
c.793+2654C>G
c.1832C>G (p.Ala611Gly)
c.1889C>G (p.Ala630Gly)
c.1838C>G (p.Ala613Gly)
c.1943C>G (p.Ala648Gly)
c.1850C>G (p.Ala617Gly)
c.1949C>G (p.Ala650Gly)
c.1979C>G (p.Ala660Gly)
c.1970C>G (p.Ala657Gly)
c.1940C>G (p.Ala647Gly)
c.1883C>G (p.Ala628Gly)
c.1829C>G (p.Ala610Gly)
c.1622C>G (p.Ala541Gly)
c.2036C>G (p.Ala679Gly)
c.2030C>G (p.Ala677Gly)
c.2027C>G (p.Ala676Gly)
c.2087C>G (p.Ala696Gly)
c.2078C>G (p.Ala693Gly)
c.1997C>G (p.Ala666Gly)
c.1946C>G (p.Ala649Gly)
14g.33800235C>TCA389413142NPAS3c.1928C>T (p.Ala643Val)
c.1937C>T (p.Ala646Val)
c.1828C>T
c.793+2654C>T
c.1832C>T (p.Ala611Val)
c.1889C>T (p.Ala630Val)
c.1838C>T (p.Ala613Val)
c.1943C>T (p.Ala648Val)
c.1850C>T (p.Ala617Val)
c.1949C>T (p.Ala650Val)
c.1979C>T (p.Ala660Val)
c.1970C>T (p.Ala657Val)
c.1940C>T (p.Ala647Val)
c.1883C>T (p.Ala628Val)
c.1829C>T (p.Ala610Val)
c.1622C>T (p.Ala541Val)
c.2036C>T (p.Ala679Val)
c.2030C>T (p.Ala677Val)
c.2027C>T (p.Ala676Val)
c.2087C>T (p.Ala696Val)
c.2078C>T (p.Ala693Val)
c.1997C>T (p.Ala666Val)
c.1946C>T (p.Ala649Val)
 gnomAD v4
14g.33800236C>ACA486092948NPAS3c.1929C>A (p.Ala643=)
c.1938C>A (p.Ala646=)
c.1829C>A
c.793+2655C>A
c.1833C>A (p.Ala611=)
c.1890C>A (p.Ala630=)
c.1839C>A (p.Ala613=)
c.1944C>A (p.Ala648=)
c.1851C>A (p.Ala617=)
c.1950C>A (p.Ala650=)
c.1980C>A (p.Ala660=)
c.1971C>A (p.Ala657=)
c.1941C>A (p.Ala647=)
c.1884C>A (p.Ala628=)
c.1830C>A (p.Ala610=)
c.1623C>A (p.Ala541=)
c.2037C>A (p.Ala679=)
c.2031C>A (p.Ala677=)
c.2028C>A (p.Ala676=)
c.2088C>A (p.Ala696=)
c.2079C>A (p.Ala693=)
c.1998C>A (p.Ala666=)
c.1947C>A (p.Ala649=)
 COSMIC COSMIC COSMIC
14g.33800236C=CA2128327134NPAS3c.1929C= (p.Ala643=)
c.1938C= (p.Ala646=)
c.1829C=
c.793+2655C=
c.1833C= (p.Ala611=)
c.1890C= (p.Ala630=)
c.1839C= (p.Ala613=)
c.1944C= (p.Ala648=)
c.1851C= (p.Ala617=)
c.1950C= (p.Ala650=)
c.1980C= (p.Ala660=)
c.1971C= (p.Ala657=)
c.1941C= (p.Ala647=)
c.1884C= (p.Ala628=)
c.1830C= (p.Ala610=)
c.1623C= (p.Ala541=)
c.2037C= (p.Ala679=)
c.2031C= (p.Ala677=)
c.2028C= (p.Ala676=)
c.2088C= (p.Ala696=)
c.2079C= (p.Ala693=)
c.1998C= (p.Ala666=)
c.1947C= (p.Ala649=)
14g.33800236C>GCA486092949NPAS3c.1929C>G (p.Ala643=)
c.1938C>G (p.Ala646=)
c.1829C>G
c.793+2655C>G
c.1833C>G (p.Ala611=)
c.1890C>G (p.Ala630=)
c.1839C>G (p.Ala613=)
c.1944C>G (p.Ala648=)
c.1851C>G (p.Ala617=)
c.1950C>G (p.Ala650=)
c.1980C>G (p.Ala660=)
c.1971C>G (p.Ala657=)
c.1941C>G (p.Ala647=)
c.1884C>G (p.Ala628=)
c.1830C>G (p.Ala610=)
c.1623C>G (p.Ala541=)
c.2037C>G (p.Ala679=)
c.2031C>G (p.Ala677=)
c.2028C>G (p.Ala676=)
c.2088C>G (p.Ala696=)
c.2079C>G (p.Ala693=)
c.1998C>G (p.Ala666=)
c.1947C>G (p.Ala649=)
 gnomAD v4
14g.33800236C>TCA486092950NPAS3c.1929C>T (p.Ala643=)
c.1938C>T (p.Ala646=)
c.1829C>T
c.793+2655C>T
c.1833C>T (p.Ala611=)
c.1890C>T (p.Ala630=)
c.1839C>T (p.Ala613=)
c.1944C>T (p.Ala648=)
c.1851C>T (p.Ala617=)
c.1950C>T (p.Ala650=)
c.1980C>T (p.Ala660=)
c.1971C>T (p.Ala657=)
c.1941C>T (p.Ala647=)
c.1884C>T (p.Ala628=)
c.1830C>T (p.Ala610=)
c.1623C>T (p.Ala541=)
c.2037C>T (p.Ala679=)
c.2031C>T (p.Ala677=)
c.2028C>T (p.Ala676=)
c.2088C>T (p.Ala696=)
c.2079C>T (p.Ala693=)
c.1998C>T (p.Ala666=)
c.1947C>T (p.Ala649=)
 dbSNP gnomAD v2 gnomAD v4
14g.33800237T>ACA389413145NPAS3c.1930T>A (p.Ser644Thr)
c.1939T>A (p.Ser647Thr)
c.1830T>A
c.793+2656T>A
c.1834T>A (p.Ser612Thr)
c.1891T>A (p.Ser631Thr)
c.1840T>A (p.Ser614Thr)
c.1945T>A (p.Ser649Thr)
c.1852T>A (p.Ser618Thr)
c.1951T>A (p.Ser651Thr)
c.1981T>A (p.Ser661Thr)
c.1972T>A (p.Ser658Thr)
c.1942T>A (p.Ser648Thr)
c.1885T>A (p.Ser629Thr)
c.1831T>A (p.Ser611Thr)
c.1624T>A (p.Ser542Thr)
c.2038T>A (p.Ser680Thr)
c.2032T>A (p.Ser678Thr)
c.2029T>A (p.Ser677Thr)
c.2089T>A (p.Ser697Thr)
c.2080T>A (p.Ser694Thr)
c.1999T>A (p.Ser667Thr)
c.1948T>A (p.Ser650Thr)
14g.33800237T>CCA389413147NPAS3c.1930T>C (p.Ser644Pro)
c.1939T>C (p.Ser647Pro)
c.1830T>C
c.793+2656T>C
c.1834T>C (p.Ser612Pro)
c.1891T>C (p.Ser631Pro)
c.1840T>C (p.Ser614Pro)
c.1945T>C (p.Ser649Pro)
c.1852T>C (p.Ser618Pro)
c.1951T>C (p.Ser651Pro)
c.1981T>C (p.Ser661Pro)
c.1972T>C (p.Ser658Pro)
c.1942T>C (p.Ser648Pro)
c.1885T>C (p.Ser629Pro)
c.1831T>C (p.Ser611Pro)
c.1624T>C (p.Ser542Pro)
c.2038T>C (p.Ser680Pro)
c.2032T>C (p.Ser678Pro)
c.2029T>C (p.Ser677Pro)
c.2089T>C (p.Ser697Pro)
c.2080T>C (p.Ser694Pro)
c.1999T>C (p.Ser667Pro)
c.1948T>C (p.Ser650Pro)
14g.33800237T>GCA389413149NPAS3c.1930T>G (p.Ser644Ala)
c.1939T>G (p.Ser647Ala)
c.1830T>G
c.793+2656T>G
c.1834T>G (p.Ser612Ala)
c.1891T>G (p.Ser631Ala)
c.1840T>G (p.Ser614Ala)
c.1945T>G (p.Ser649Ala)
c.1852T>G (p.Ser618Ala)
c.1951T>G (p.Ser651Ala)
c.1981T>G (p.Ser661Ala)
c.1972T>G (p.Ser658Ala)
c.1942T>G (p.Ser648Ala)
c.1885T>G (p.Ser629Ala)
c.1831T>G (p.Ser611Ala)
c.1624T>G (p.Ser542Ala)
c.2038T>G (p.Ser680Ala)
c.2032T>G (p.Ser678Ala)
c.2029T>G (p.Ser677Ala)
c.2089T>G (p.Ser697Ala)
c.2080T>G (p.Ser694Ala)
c.1999T>G (p.Ser667Ala)
c.1948T>G (p.Ser650Ala)
14g.33800238C>ACA389413152NPAS3c.1931C>A (p.Ser644Ter)
c.1940C>A (p.Ser647Ter)
c.1831C>A
c.793+2657C>A
c.1835C>A (p.Ser612Ter)
c.1892C>A (p.Ser631Ter)
c.1841C>A (p.Ser614Ter)
c.1946C>A (p.Ser649Ter)
c.1853C>A (p.Ser618Ter)
c.1952C>A (p.Ser651Ter)
c.1982C>A (p.Ser661Ter)
c.1973C>A (p.Ser658Ter)
c.1943C>A (p.Ser648Ter)
c.1886C>A (p.Ser629Ter)
c.1832C>A (p.Ser611Ter)
c.1625C>A (p.Ser542Ter)
c.2039C>A (p.Ser680Ter)
c.2033C>A (p.Ser678Ter)
c.2030C>A (p.Ser677Ter)
c.2090C>A (p.Ser697Ter)
c.2081C>A (p.Ser694Ter)
c.2000C>A (p.Ser667Ter)
c.1949C>A (p.Ser650Ter)
14g.33800238C=CA2128327139NPAS3c.1931C= (p.Ser644=)
c.1940C= (p.Ser647=)
c.1831C=
c.793+2657C=
c.1835C= (p.Ser612=)
c.1892C= (p.Ser631=)
c.1841C= (p.Ser614=)
c.1946C= (p.Ser649=)
c.1853C= (p.Ser618=)
c.1952C= (p.Ser651=)
c.1982C= (p.Ser661=)
c.1973C= (p.Ser658=)
c.1943C= (p.Ser648=)
c.1886C= (p.Ser629=)
c.1832C= (p.Ser611=)
c.1625C= (p.Ser542=)
c.2039C= (p.Ser680=)
c.2033C= (p.Ser678=)
c.2030C= (p.Ser677=)
c.2090C= (p.Ser697=)
c.2081C= (p.Ser694=)
c.2000C= (p.Ser667=)
c.1949C= (p.Ser650=)
14g.33800238C>GCA389413154NPAS3c.1931C>G (p.Ser644Trp)
c.1940C>G (p.Ser647Trp)
c.1831C>G
c.793+2657C>G
c.1835C>G (p.Ser612Trp)
c.1892C>G (p.Ser631Trp)
c.1841C>G (p.Ser614Trp)
c.1946C>G (p.Ser649Trp)
c.1853C>G (p.Ser618Trp)
c.1952C>G (p.Ser651Trp)
c.1982C>G (p.Ser661Trp)
c.1973C>G (p.Ser658Trp)
c.1943C>G (p.Ser648Trp)
c.1886C>G (p.Ser629Trp)
c.1832C>G (p.Ser611Trp)
c.1625C>G (p.Ser542Trp)
c.2039C>G (p.Ser680Trp)
c.2033C>G (p.Ser678Trp)
c.2030C>G (p.Ser677Trp)
c.2090C>G (p.Ser697Trp)
c.2081C>G (p.Ser694Trp)
c.2000C>G (p.Ser667Trp)
c.1949C>G (p.Ser650Trp)
14g.33800238C>TCA7150912NPAS3c.1931C>T (p.Ser644Leu)
c.1940C>T (p.Ser647Leu)
c.1831C>T
c.793+2657C>T
c.1835C>T (p.Ser612Leu)
c.1892C>T (p.Ser631Leu)
c.1841C>T (p.Ser614Leu)
c.1946C>T (p.Ser649Leu)
c.1853C>T (p.Ser618Leu)
c.1952C>T (p.Ser651Leu)
c.1982C>T (p.Ser661Leu)
c.1973C>T (p.Ser658Leu)
c.1943C>T (p.Ser648Leu)
c.1886C>T (p.Ser629Leu)
c.1832C>T (p.Ser611Leu)
c.1625C>T (p.Ser542Leu)
c.2039C>T (p.Ser680Leu)
c.2033C>T (p.Ser678Leu)
c.2030C>T (p.Ser677Leu)
c.2090C>T (p.Ser697Leu)
c.2081C>T (p.Ser694Leu)
c.2000C>T (p.Ser667Leu)
c.1949C>T (p.Ser650Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800238_33800239delinsCGCA2128327140NPAS3c.1931_1932delinsCG (p.Ser644=)
c.1940_1941delinsCG (p.Ser647=)
c.1831_1832delinsCG
c.793+2657_793+2658delinsCG
c.1835_1836delinsCG (p.Ser612=)
c.1892_1893delinsCG (p.Ser631=)
c.1841_1842delinsCG (p.Ser614=)
c.1946_1947delinsCG (p.Ser649=)
c.1853_1854delinsCG (p.Ser618=)
c.1952_1953delinsCG (p.Ser651=)
c.1982_1983delinsCG (p.Ser661=)
c.1973_1974delinsCG (p.Ser658=)
c.1943_1944delinsCG (p.Ser648=)
c.1886_1887delinsCG (p.Ser629=)
c.1832_1833delinsCG (p.Ser611=)
c.1625_1626delinsCG (p.Ser542=)
c.2039_2040delinsCG (p.Ser680=)
c.2033_2034delinsCG (p.Ser678=)
c.2030_2031delinsCG (p.Ser677=)
c.2090_2091delinsCG (p.Ser697=)
c.2081_2082delinsCG (p.Ser694=)
c.2000_2001delinsCG (p.Ser667=)
c.1949_1950delinsCG (p.Ser650=)
14g.33800239G>ACA7150913NPAS3c.1932G>A (p.Ser644=)
c.1941G>A (p.Ser647=)
c.1832G>A
c.793+2658G>A
c.1836G>A (p.Ser612=)
c.1893G>A (p.Ser631=)
c.1842G>A (p.Ser614=)
c.1947G>A (p.Ser649=)
c.1854G>A (p.Ser618=)
c.1953G>A (p.Ser651=)
c.1983G>A (p.Ser661=)
c.1974G>A (p.Ser658=)
c.1944G>A (p.Ser648=)
c.1887G>A (p.Ser629=)
c.1833G>A (p.Ser611=)
c.1626G>A (p.Ser542=)
c.2040G>A (p.Ser680=)
c.2034G>A (p.Ser678=)
c.2031G>A (p.Ser677=)
c.2091G>A (p.Ser697=)
c.2082G>A (p.Ser694=)
c.2001G>A (p.Ser667=)
c.1950G>A (p.Ser650=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800239G>CCA486092952NPAS3c.1932G>C (p.Ser644=)
c.1941G>C (p.Ser647=)
c.1832G>C
c.793+2658G>C
c.1836G>C (p.Ser612=)
c.1893G>C (p.Ser631=)
c.1842G>C (p.Ser614=)
c.1947G>C (p.Ser649=)
c.1854G>C (p.Ser618=)
c.1953G>C (p.Ser651=)
c.1983G>C (p.Ser661=)
c.1974G>C (p.Ser658=)
c.1944G>C (p.Ser648=)
c.1887G>C (p.Ser629=)
c.1833G>C (p.Ser611=)
c.1626G>C (p.Ser542=)
c.2040G>C (p.Ser680=)
c.2034G>C (p.Ser678=)
c.2031G>C (p.Ser677=)
c.2091G>C (p.Ser697=)
c.2082G>C (p.Ser694=)
c.2001G>C (p.Ser667=)
c.1950G>C (p.Ser650=)
 dbSNP gnomAD v2 gnomAD v4
14g.33800239G=CA2128327144NPAS3c.1932G= (p.Ser644=)
c.1941G= (p.Ser647=)
c.1832G=
c.793+2658G=
c.1836G= (p.Ser612=)
c.1893G= (p.Ser631=)
c.1842G= (p.Ser614=)
c.1947G= (p.Ser649=)
c.1854G= (p.Ser618=)
c.1953G= (p.Ser651=)
c.1983G= (p.Ser661=)
c.1974G= (p.Ser658=)
c.1944G= (p.Ser648=)
c.1887G= (p.Ser629=)
c.1833G= (p.Ser611=)
c.1626G= (p.Ser542=)
c.2040G= (p.Ser680=)
c.2034G= (p.Ser678=)
c.2031G= (p.Ser677=)
c.2091G= (p.Ser697=)
c.2082G= (p.Ser694=)
c.2001G= (p.Ser667=)
c.1950G= (p.Ser650=)
14g.33800239G>TCA486092951NPAS3c.1932G>T (p.Ser644=)
c.1941G>T (p.Ser647=)
c.1832G>T
c.793+2658G>T
c.1836G>T (p.Ser612=)
c.1893G>T (p.Ser631=)
c.1842G>T (p.Ser614=)
c.1947G>T (p.Ser649=)
c.1854G>T (p.Ser618=)
c.1953G>T (p.Ser651=)
c.1983G>T (p.Ser661=)
c.1974G>T (p.Ser658=)
c.1944G>T (p.Ser648=)
c.1887G>T (p.Ser629=)
c.1833G>T (p.Ser611=)
c.1626G>T (p.Ser542=)
c.2040G>T (p.Ser680=)
c.2034G>T (p.Ser678=)
c.2031G>T (p.Ser677=)
c.2091G>T (p.Ser697=)
c.2082G>T (p.Ser694=)
c.2001G>T (p.Ser667=)
c.1950G>T (p.Ser650=)
14g.33800240delCA961818357NPAS3c.1933del (p.Val645CysfsTer?)
c.1942del (p.Val648CysfsTer?)
c.1833del
c.793+2659del
c.1837del (p.Val613CysfsTer?)
c.1894del (p.Val632CysfsTer?)
c.1843del (p.Val615CysfsTer?)
c.1948del (p.Val650CysfsTer?)
c.1855del (p.Val619CysfsTer?)
c.1954del (p.Val652CysfsTer?)
c.1984del (p.Val662CysfsTer?)
c.1975del (p.Val659CysfsTer?)
c.1945del (p.Val649CysfsTer?)
c.1888del (p.Val630CysfsTer?)
c.1834del (p.Val612CysfsTer?)
c.1627del (p.Val543CysfsTer?)
c.2041del (p.Val681CysfsTer?)
c.2035del (p.Val679CysfsTer?)
c.2032del (p.Val678CysfsTer?)
c.2092del (p.Val698CysfsTer?)
c.2083del (p.Val695CysfsTer?)
c.2002del (p.Val668CysfsTer?)
c.1951del (p.Val651CysfsTer?)
 dbSNP gnomAD v3 gnomAD v4
14g.33800240G>ACA7150914NPAS3c.1933G>A (p.Val645Met)
c.1942G>A (p.Val648Met)
c.1833G>A
c.793+2659G>A
c.1837G>A (p.Val613Met)
c.1894G>A (p.Val632Met)
c.1843G>A (p.Val615Met)
c.1948G>A (p.Val650Met)
c.1855G>A (p.Val619Met)
c.1954G>A (p.Val652Met)
c.1984G>A (p.Val662Met)
c.1975G>A (p.Val659Met)
c.1945G>A (p.Val649Met)
c.1888G>A (p.Val630Met)
c.1834G>A (p.Val612Met)
c.1627G>A (p.Val543Met)
c.2041G>A (p.Val681Met)
c.2035G>A (p.Val679Met)
c.2032G>A (p.Val678Met)
c.2092G>A (p.Val698Met)
c.2083G>A (p.Val695Met)
c.2002G>A (p.Val668Met)
c.1951G>A (p.Val651Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800240G>CCA389413159NPAS3c.1933G>C (p.Val645Leu)
c.1942G>C (p.Val648Leu)
c.1833G>C
c.793+2659G>C
c.1837G>C (p.Val613Leu)
c.1894G>C (p.Val632Leu)
c.1843G>C (p.Val615Leu)
c.1948G>C (p.Val650Leu)
c.1855G>C (p.Val619Leu)
c.1954G>C (p.Val652Leu)
c.1984G>C (p.Val662Leu)
c.1975G>C (p.Val659Leu)
c.1945G>C (p.Val649Leu)
c.1888G>C (p.Val630Leu)
c.1834G>C (p.Val612Leu)
c.1627G>C (p.Val543Leu)
c.2041G>C (p.Val681Leu)
c.2035G>C (p.Val679Leu)
c.2032G>C (p.Val678Leu)
c.2092G>C (p.Val698Leu)
c.2083G>C (p.Val695Leu)
c.2002G>C (p.Val668Leu)
c.1951G>C (p.Val651Leu)
14g.33800240G=CA2128327146NPAS3c.1933G= (p.Val645=)
c.1942G= (p.Val648=)
c.1833G=
c.793+2659G=
c.1837G= (p.Val613=)
c.1894G= (p.Val632=)
c.1843G= (p.Val615=)
c.1948G= (p.Val650=)
c.1855G= (p.Val619=)
c.1954G= (p.Val652=)
c.1984G= (p.Val662=)
c.1975G= (p.Val659=)
c.1945G= (p.Val649=)
c.1888G= (p.Val630=)
c.1834G= (p.Val612=)
c.1627G= (p.Val543=)
c.2041G= (p.Val681=)
c.2035G= (p.Val679=)
c.2032G= (p.Val678=)
c.2092G= (p.Val698=)
c.2083G= (p.Val695=)
c.2002G= (p.Val668=)
c.1951G= (p.Val651=)
14g.33800240G>TCA389413161NPAS3c.1933G>T (p.Val645Leu)
c.1942G>T (p.Val648Leu)
c.1833G>T
c.793+2659G>T
c.1837G>T (p.Val613Leu)
c.1894G>T (p.Val632Leu)
c.1843G>T (p.Val615Leu)
c.1948G>T (p.Val650Leu)
c.1855G>T (p.Val619Leu)
c.1954G>T (p.Val652Leu)
c.1984G>T (p.Val662Leu)
c.1975G>T (p.Val659Leu)
c.1945G>T (p.Val649Leu)
c.1888G>T (p.Val630Leu)
c.1834G>T (p.Val612Leu)
c.1627G>T (p.Val543Leu)
c.2041G>T (p.Val681Leu)
c.2035G>T (p.Val679Leu)
c.2032G>T (p.Val678Leu)
c.2092G>T (p.Val698Leu)
c.2083G>T (p.Val695Leu)
c.2002G>T (p.Val668Leu)
c.1951G>T (p.Val651Leu)
14g.33800241T>ACA389413164NPAS3c.1934T>A (p.Val645Glu)
c.1943T>A (p.Val648Glu)
c.1834T>A
c.793+2660T>A
c.1838T>A (p.Val613Glu)
c.1895T>A (p.Val632Glu)
c.1844T>A (p.Val615Glu)
c.1949T>A (p.Val650Glu)
c.1856T>A (p.Val619Glu)
c.1955T>A (p.Val652Glu)
c.1985T>A (p.Val662Glu)
c.1976T>A (p.Val659Glu)
c.1946T>A (p.Val649Glu)
c.1889T>A (p.Val630Glu)
c.1835T>A (p.Val612Glu)
c.1628T>A (p.Val543Glu)
c.2042T>A (p.Val681Glu)
c.2036T>A (p.Val679Glu)
c.2033T>A (p.Val678Glu)
c.2093T>A (p.Val698Glu)
c.2084T>A (p.Val695Glu)
c.2003T>A (p.Val668Glu)
c.1952T>A (p.Val651Glu)
14g.33800241T>CCA389413169NPAS3c.1934T>C (p.Val645Ala)
c.1943T>C (p.Val648Ala)
c.1834T>C
c.793+2660T>C
c.1838T>C (p.Val613Ala)
c.1895T>C (p.Val632Ala)
c.1844T>C (p.Val615Ala)
c.1949T>C (p.Val650Ala)
c.1856T>C (p.Val619Ala)
c.1955T>C (p.Val652Ala)
c.1985T>C (p.Val662Ala)
c.1976T>C (p.Val659Ala)
c.1946T>C (p.Val649Ala)
c.1889T>C (p.Val630Ala)
c.1835T>C (p.Val612Ala)
c.1628T>C (p.Val543Ala)
c.2042T>C (p.Val681Ala)
c.2036T>C (p.Val679Ala)
c.2033T>C (p.Val678Ala)
c.2093T>C (p.Val698Ala)
c.2084T>C (p.Val695Ala)
c.2003T>C (p.Val668Ala)
c.1952T>C (p.Val651Ala)
14g.33800241T>GCA389413168NPAS3c.1934T>G (p.Val645Gly)
c.1943T>G (p.Val648Gly)
c.1834T>G
c.793+2660T>G
c.1838T>G (p.Val613Gly)
c.1895T>G (p.Val632Gly)
c.1844T>G (p.Val615Gly)
c.1949T>G (p.Val650Gly)
c.1856T>G (p.Val619Gly)
c.1955T>G (p.Val652Gly)
c.1985T>G (p.Val662Gly)
c.1976T>G (p.Val659Gly)
c.1946T>G (p.Val649Gly)
c.1889T>G (p.Val630Gly)
c.1835T>G (p.Val612Gly)
c.1628T>G (p.Val543Gly)
c.2042T>G (p.Val681Gly)
c.2036T>G (p.Val679Gly)
c.2033T>G (p.Val678Gly)
c.2093T>G (p.Val698Gly)
c.2084T>G (p.Val695Gly)
c.2003T>G (p.Val668Gly)
c.1952T>G (p.Val651Gly)
14g.33800242G>ACA486092956NPAS3c.1935G>A (p.Val645=)
c.1944G>A (p.Val648=)
c.1835G>A
c.793+2661G>A
c.1839G>A (p.Val613=)
c.1896G>A (p.Val632=)
c.1845G>A (p.Val615=)
c.1950G>A (p.Val650=)
c.1857G>A (p.Val619=)
c.1956G>A (p.Val652=)
c.1986G>A (p.Val662=)
c.1977G>A (p.Val659=)
c.1947G>A (p.Val649=)
c.1890G>A (p.Val630=)
c.1836G>A (p.Val612=)
c.1629G>A (p.Val543=)
c.2043G>A (p.Val681=)
c.2037G>A (p.Val679=)
c.2034G>A (p.Val678=)
c.2094G>A (p.Val698=)
c.2085G>A (p.Val695=)
c.2004G>A (p.Val668=)
c.1953G>A (p.Val651=)
14g.33800242G>CCA486092957NPAS3c.1935G>C (p.Val645=)
c.1944G>C (p.Val648=)
c.1835G>C
c.793+2661G>C
c.1839G>C (p.Val613=)
c.1896G>C (p.Val632=)
c.1845G>C (p.Val615=)
c.1950G>C (p.Val650=)
c.1857G>C (p.Val619=)
c.1956G>C (p.Val652=)
c.1986G>C (p.Val662=)
c.1977G>C (p.Val659=)
c.1947G>C (p.Val649=)
c.1890G>C (p.Val630=)
c.1836G>C (p.Val612=)
c.1629G>C (p.Val543=)
c.2043G>C (p.Val681=)
c.2037G>C (p.Val679=)
c.2034G>C (p.Val678=)
c.2094G>C (p.Val698=)
c.2085G>C (p.Val695=)
c.2004G>C (p.Val668=)
c.1953G>C (p.Val651=)
 COSMIC COSMIC COSMIC
14g.33800242G>TCA486092958NPAS3c.1935G>T (p.Val645=)
c.1944G>T (p.Val648=)
c.1835G>T
c.793+2661G>T
c.1839G>T (p.Val613=)
c.1896G>T (p.Val632=)
c.1845G>T (p.Val615=)
c.1950G>T (p.Val650=)
c.1857G>T (p.Val619=)
c.1956G>T (p.Val652=)
c.1986G>T (p.Val662=)
c.1977G>T (p.Val659=)
c.1947G>T (p.Val649=)
c.1890G>T (p.Val630=)
c.1836G>T (p.Val612=)
c.1629G>T (p.Val543=)
c.2043G>T (p.Val681=)
c.2037G>T (p.Val679=)
c.2034G>T (p.Val678=)
c.2094G>T (p.Val698=)
c.2085G>T (p.Val695=)
c.2004G>T (p.Val668=)
c.1953G>T (p.Val651=)
14g.33800243C>ACA389413173NPAS3c.1936C>A (p.Leu646Ile)
c.1945C>A (p.Leu649Ile)
c.1836C>A
c.793+2662C>A
c.1840C>A (p.Leu614Ile)
c.1897C>A (p.Leu633Ile)
c.1846C>A (p.Leu616Ile)
c.1951C>A (p.Leu651Ile)
c.1858C>A (p.Leu620Ile)
c.1957C>A (p.Leu653Ile)
c.1987C>A (p.Leu663Ile)
c.1978C>A (p.Leu660Ile)
c.1948C>A (p.Leu650Ile)
c.1891C>A (p.Leu631Ile)
c.1837C>A (p.Leu613Ile)
c.1630C>A (p.Leu544Ile)
c.2044C>A (p.Leu682Ile)
c.2038C>A (p.Leu680Ile)
c.2035C>A (p.Leu679Ile)
c.2095C>A (p.Leu699Ile)
c.2086C>A (p.Leu696Ile)
c.2005C>A (p.Leu669Ile)
c.1954C>A (p.Leu652Ile)
14g.33800243C=CA2128327149NPAS3c.1936C= (p.Leu646=)
c.1945C= (p.Leu649=)
c.1836C=
c.793+2662C=
c.1840C= (p.Leu614=)
c.1897C= (p.Leu633=)
c.1846C= (p.Leu616=)
c.1951C= (p.Leu651=)
c.1858C= (p.Leu620=)
c.1957C= (p.Leu653=)
c.1987C= (p.Leu663=)
c.1978C= (p.Leu660=)
c.1948C= (p.Leu650=)
c.1891C= (p.Leu631=)
c.1837C= (p.Leu613=)
c.1630C= (p.Leu544=)
c.2044C= (p.Leu682=)
c.2038C= (p.Leu680=)
c.2035C= (p.Leu679=)
c.2095C= (p.Leu699=)
c.2086C= (p.Leu696=)
c.2005C= (p.Leu669=)
c.1954C= (p.Leu652=)
14g.33800243C>GCA389413174NPAS3c.1936C>G (p.Leu646Val)
c.1945C>G (p.Leu649Val)
c.1836C>G
c.793+2662C>G
c.1840C>G (p.Leu614Val)
c.1897C>G (p.Leu633Val)
c.1846C>G (p.Leu616Val)
c.1951C>G (p.Leu651Val)
c.1858C>G (p.Leu620Val)
c.1957C>G (p.Leu653Val)
c.1987C>G (p.Leu663Val)
c.1978C>G (p.Leu660Val)
c.1948C>G (p.Leu650Val)
c.1891C>G (p.Leu631Val)
c.1837C>G (p.Leu613Val)
c.1630C>G (p.Leu544Val)
c.2044C>G (p.Leu682Val)
c.2038C>G (p.Leu680Val)
c.2035C>G (p.Leu679Val)
c.2095C>G (p.Leu699Val)
c.2086C>G (p.Leu696Val)
c.2005C>G (p.Leu669Val)
c.1954C>G (p.Leu652Val)
14g.33800243C>TCA389413176NPAS3c.1936C>T (p.Leu646Phe)
c.1945C>T (p.Leu649Phe)
c.1836C>T
c.793+2662C>T
c.1840C>T (p.Leu614Phe)
c.1897C>T (p.Leu633Phe)
c.1846C>T (p.Leu616Phe)
c.1951C>T (p.Leu651Phe)
c.1858C>T (p.Leu620Phe)
c.1957C>T (p.Leu653Phe)
c.1987C>T (p.Leu663Phe)
c.1978C>T (p.Leu660Phe)
c.1948C>T (p.Leu650Phe)
c.1891C>T (p.Leu631Phe)
c.1837C>T (p.Leu613Phe)
c.1630C>T (p.Leu544Phe)
c.2044C>T (p.Leu682Phe)
c.2038C>T (p.Leu680Phe)
c.2035C>T (p.Leu679Phe)
c.2095C>T (p.Leu699Phe)
c.2086C>T (p.Leu696Phe)
c.2005C>T (p.Leu669Phe)
c.1954C>T (p.Leu652Phe)
 dbSNP gnomAD v2 gnomAD v4
14g.33800244T>ACA389413178NPAS3c.1937T>A (p.Leu646His)
c.1946T>A (p.Leu649His)
c.1837T>A
c.793+2663T>A
c.1841T>A (p.Leu614His)
c.1898T>A (p.Leu633His)
c.1847T>A (p.Leu616His)
c.1952T>A (p.Leu651His)
c.1859T>A (p.Leu620His)
c.1958T>A (p.Leu653His)
c.1988T>A (p.Leu663His)
c.1979T>A (p.Leu660His)
c.1949T>A (p.Leu650His)
c.1892T>A (p.Leu631His)
c.1838T>A (p.Leu613His)
c.1631T>A (p.Leu544His)
c.2045T>A (p.Leu682His)
c.2039T>A (p.Leu680His)
c.2036T>A (p.Leu679His)
c.2096T>A (p.Leu699His)
c.2087T>A (p.Leu696His)
c.2006T>A (p.Leu669His)
c.1955T>A (p.Leu652His)
14g.33800244T>CCA389413180NPAS3c.1937T>C (p.Leu646Pro)
c.1946T>C (p.Leu649Pro)
c.1837T>C
c.793+2663T>C
c.1841T>C (p.Leu614Pro)
c.1898T>C (p.Leu633Pro)
c.1847T>C (p.Leu616Pro)
c.1952T>C (p.Leu651Pro)
c.1859T>C (p.Leu620Pro)
c.1958T>C (p.Leu653Pro)
c.1988T>C (p.Leu663Pro)
c.1979T>C (p.Leu660Pro)
c.1949T>C (p.Leu650Pro)
c.1892T>C (p.Leu631Pro)
c.1838T>C (p.Leu613Pro)
c.1631T>C (p.Leu544Pro)
c.2045T>C (p.Leu682Pro)
c.2039T>C (p.Leu680Pro)
c.2036T>C (p.Leu679Pro)
c.2096T>C (p.Leu699Pro)
c.2087T>C (p.Leu696Pro)
c.2006T>C (p.Leu669Pro)
c.1955T>C (p.Leu652Pro)
14g.33800244T>GCA389413181NPAS3c.1937T>G (p.Leu646Arg)
c.1946T>G (p.Leu649Arg)
c.1837T>G
c.793+2663T>G
c.1841T>G (p.Leu614Arg)
c.1898T>G (p.Leu633Arg)
c.1847T>G (p.Leu616Arg)
c.1952T>G (p.Leu651Arg)
c.1859T>G (p.Leu620Arg)
c.1958T>G (p.Leu653Arg)
c.1988T>G (p.Leu663Arg)
c.1979T>G (p.Leu660Arg)
c.1949T>G (p.Leu650Arg)
c.1892T>G (p.Leu631Arg)
c.1838T>G (p.Leu613Arg)
c.1631T>G (p.Leu544Arg)
c.2045T>G (p.Leu682Arg)
c.2039T>G (p.Leu680Arg)
c.2036T>G (p.Leu679Arg)
c.2096T>G (p.Leu699Arg)
c.2087T>G (p.Leu696Arg)
c.2006T>G (p.Leu669Arg)
c.1955T>G (p.Leu652Arg)
14g.33800245C>ACA486092959NPAS3c.1938C>A (p.Leu646=)
c.1947C>A (p.Leu649=)
c.1838C>A
c.793+2664C>A
c.1842C>A (p.Leu614=)
c.1899C>A (p.Leu633=)
c.1848C>A (p.Leu616=)
c.1953C>A (p.Leu651=)
c.1860C>A (p.Leu620=)
c.1959C>A (p.Leu653=)
c.1989C>A (p.Leu663=)
c.1980C>A (p.Leu660=)
c.1950C>A (p.Leu650=)
c.1893C>A (p.Leu631=)
c.1839C>A (p.Leu613=)
c.1632C>A (p.Leu544=)
c.2046C>A (p.Leu682=)
c.2040C>A (p.Leu680=)
c.2037C>A (p.Leu679=)
c.2097C>A (p.Leu699=)
c.2088C>A (p.Leu696=)
c.2007C>A (p.Leu669=)
c.1956C>A (p.Leu652=)
14g.33800245C=CA2128327151NPAS3c.1938C= (p.Leu646=)
c.1947C= (p.Leu649=)
c.1838C=
c.793+2664C=
c.1842C= (p.Leu614=)
c.1899C= (p.Leu633=)
c.1848C= (p.Leu616=)
c.1953C= (p.Leu651=)
c.1860C= (p.Leu620=)
c.1959C= (p.Leu653=)
c.1989C= (p.Leu663=)
c.1980C= (p.Leu660=)
c.1950C= (p.Leu650=)
c.1893C= (p.Leu631=)
c.1839C= (p.Leu613=)
c.1632C= (p.Leu544=)
c.2046C= (p.Leu682=)
c.2040C= (p.Leu680=)
c.2037C= (p.Leu679=)
c.2097C= (p.Leu699=)
c.2088C= (p.Leu696=)
c.2007C= (p.Leu669=)
c.1956C= (p.Leu652=)
14g.33800245C>GCA486092960NPAS3c.1938C>G (p.Leu646=)
c.1947C>G (p.Leu649=)
c.1838C>G
c.793+2664C>G
c.1842C>G (p.Leu614=)
c.1899C>G (p.Leu633=)
c.1848C>G (p.Leu616=)
c.1953C>G (p.Leu651=)
c.1860C>G (p.Leu620=)
c.1959C>G (p.Leu653=)
c.1989C>G (p.Leu663=)
c.1980C>G (p.Leu660=)
c.1950C>G (p.Leu650=)
c.1893C>G (p.Leu631=)
c.1839C>G (p.Leu613=)
c.1632C>G (p.Leu544=)
c.2046C>G (p.Leu682=)
c.2040C>G (p.Leu680=)
c.2037C>G (p.Leu679=)
c.2097C>G (p.Leu699=)
c.2088C>G (p.Leu696=)
c.2007C>G (p.Leu669=)
c.1956C>G (p.Leu652=)
14g.33800245C>TCA486092962NPAS3c.1938C>T (p.Leu646=)
c.1947C>T (p.Leu649=)
c.1838C>T
c.793+2664C>T
c.1842C>T (p.Leu614=)
c.1899C>T (p.Leu633=)
c.1848C>T (p.Leu616=)
c.1953C>T (p.Leu651=)
c.1860C>T (p.Leu620=)
c.1959C>T (p.Leu653=)
c.1989C>T (p.Leu663=)
c.1980C>T (p.Leu660=)
c.1950C>T (p.Leu650=)
c.1893C>T (p.Leu631=)
c.1839C>T (p.Leu613=)
c.1632C>T (p.Leu544=)
c.2046C>T (p.Leu682=)
c.2040C>T (p.Leu680=)
c.2037C>T (p.Leu679=)
c.2097C>T (p.Leu699=)
c.2088C>T (p.Leu696=)
c.2007C>T (p.Leu669=)
c.1956C>T (p.Leu652=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800246A>CCA389413182NPAS3c.1939A>C (p.Lys647Gln)
c.1948A>C (p.Lys650Gln)
c.1839A>C
c.793+2665A>C
c.1843A>C (p.Lys615Gln)
c.1900A>C (p.Lys634Gln)
c.1849A>C (p.Lys617Gln)
c.1954A>C (p.Lys652Gln)
c.1861A>C (p.Lys621Gln)
c.1960A>C (p.Lys654Gln)
c.1990A>C (p.Lys664Gln)
c.1981A>C (p.Lys661Gln)
c.1951A>C (p.Lys651Gln)
c.1894A>C (p.Lys632Gln)
c.1840A>C (p.Lys614Gln)
c.1633A>C (p.Lys545Gln)
c.2047A>C (p.Lys683Gln)
c.2041A>C (p.Lys681Gln)
c.2038A>C (p.Lys680Gln)
c.2098A>C (p.Lys700Gln)
c.2089A>C (p.Lys697Gln)
c.2008A>C (p.Lys670Gln)
c.1957A>C (p.Lys653Gln)
14g.33800246A>GCA389413183NPAS3c.1939A>G (p.Lys647Glu)
c.1948A>G (p.Lys650Glu)
c.1839A>G
c.793+2665A>G
c.1843A>G (p.Lys615Glu)
c.1900A>G (p.Lys634Glu)
c.1849A>G (p.Lys617Glu)
c.1954A>G (p.Lys652Glu)
c.1861A>G (p.Lys621Glu)
c.1960A>G (p.Lys654Glu)
c.1990A>G (p.Lys664Glu)
c.1981A>G (p.Lys661Glu)
c.1951A>G (p.Lys651Glu)
c.1894A>G (p.Lys632Glu)
c.1840A>G (p.Lys614Glu)
c.1633A>G (p.Lys545Glu)
c.2047A>G (p.Lys683Glu)
c.2041A>G (p.Lys681Glu)
c.2038A>G (p.Lys680Glu)
c.2098A>G (p.Lys700Glu)
c.2089A>G (p.Lys697Glu)
c.2008A>G (p.Lys670Glu)
c.1957A>G (p.Lys653Glu)
 gnomAD v4
14g.33800246A>TCA389413184NPAS3c.1939A>T (p.Lys647Ter)
c.1948A>T (p.Lys650Ter)
c.1839A>T
c.793+2665A>T
c.1843A>T (p.Lys615Ter)
c.1900A>T (p.Lys634Ter)
c.1849A>T (p.Lys617Ter)
c.1954A>T (p.Lys652Ter)
c.1861A>T (p.Lys621Ter)
c.1960A>T (p.Lys654Ter)
c.1990A>T (p.Lys664Ter)
c.1981A>T (p.Lys661Ter)
c.1951A>T (p.Lys651Ter)
c.1894A>T (p.Lys632Ter)
c.1840A>T (p.Lys614Ter)
c.1633A>T (p.Lys545Ter)
c.2047A>T (p.Lys683Ter)
c.2041A>T (p.Lys681Ter)
c.2038A>T (p.Lys680Ter)
c.2098A>T (p.Lys700Ter)
c.2089A>T (p.Lys697Ter)
c.2008A>T (p.Lys670Ter)
c.1957A>T (p.Lys653Ter)
14g.33800247A=CA2128327153NPAS3c.1940A= (p.Lys647=)
c.1949A= (p.Lys650=)
c.1840A=
c.793+2666A=
c.1844A= (p.Lys615=)
c.1901A= (p.Lys634=)
c.1850A= (p.Lys617=)
c.1955A= (p.Lys652=)
c.1862A= (p.Lys621=)
c.1961A= (p.Lys654=)
c.1991A= (p.Lys664=)
c.1982A= (p.Lys661=)
c.1952A= (p.Lys651=)
c.1895A= (p.Lys632=)
c.1841A= (p.Lys614=)
c.1634A= (p.Lys545=)
c.2048A= (p.Lys683=)
c.2042A= (p.Lys681=)
c.2039A= (p.Lys680=)
c.2099A= (p.Lys700=)
c.2090A= (p.Lys697=)
c.2009A= (p.Lys670=)
c.1958A= (p.Lys653=)
14g.33800247A>CCA389413187NPAS3c.1940A>C (p.Lys647Thr)
c.1949A>C (p.Lys650Thr)
c.1840A>C
c.793+2666A>C
c.1844A>C (p.Lys615Thr)
c.1901A>C (p.Lys634Thr)
c.1850A>C (p.Lys617Thr)
c.1955A>C (p.Lys652Thr)
c.1862A>C (p.Lys621Thr)
c.1961A>C (p.Lys654Thr)
c.1991A>C (p.Lys664Thr)
c.1982A>C (p.Lys661Thr)
c.1952A>C (p.Lys651Thr)
c.1895A>C (p.Lys632Thr)
c.1841A>C (p.Lys614Thr)
c.1634A>C (p.Lys545Thr)
c.2048A>C (p.Lys683Thr)
c.2042A>C (p.Lys681Thr)
c.2039A>C (p.Lys680Thr)
c.2099A>C (p.Lys700Thr)
c.2090A>C (p.Lys697Thr)
c.2009A>C (p.Lys670Thr)
c.1958A>C (p.Lys653Thr)
14g.33800247A>GCA389413189NPAS3c.1940A>G (p.Lys647Arg)
c.1949A>G (p.Lys650Arg)
c.1840A>G
c.793+2666A>G
c.1844A>G (p.Lys615Arg)
c.1901A>G (p.Lys634Arg)
c.1850A>G (p.Lys617Arg)
c.1955A>G (p.Lys652Arg)
c.1862A>G (p.Lys621Arg)
c.1961A>G (p.Lys654Arg)
c.1991A>G (p.Lys664Arg)
c.1982A>G (p.Lys661Arg)
c.1952A>G (p.Lys651Arg)
c.1895A>G (p.Lys632Arg)
c.1841A>G (p.Lys614Arg)
c.1634A>G (p.Lys545Arg)
c.2048A>G (p.Lys683Arg)
c.2042A>G (p.Lys681Arg)
c.2039A>G (p.Lys680Arg)
c.2099A>G (p.Lys700Arg)
c.2090A>G (p.Lys697Arg)
c.2009A>G (p.Lys670Arg)
c.1958A>G (p.Lys653Arg)
 dbSNP gnomAD v3 gnomAD v4
14g.33800247A>TCA389413190NPAS3c.1940A>T (p.Lys647Met)
c.1949A>T (p.Lys650Met)
c.1840A>T
c.793+2666A>T
c.1844A>T (p.Lys615Met)
c.1901A>T (p.Lys634Met)
c.1850A>T (p.Lys617Met)
c.1955A>T (p.Lys652Met)
c.1862A>T (p.Lys621Met)
c.1961A>T (p.Lys654Met)
c.1991A>T (p.Lys664Met)
c.1982A>T (p.Lys661Met)
c.1952A>T (p.Lys651Met)
c.1895A>T (p.Lys632Met)
c.1841A>T (p.Lys614Met)
c.1634A>T (p.Lys545Met)
c.2048A>T (p.Lys683Met)
c.2042A>T (p.Lys681Met)
c.2039A>T (p.Lys680Met)
c.2099A>T (p.Lys700Met)
c.2090A>T (p.Lys697Met)
c.2009A>T (p.Lys670Met)
c.1958A>T (p.Lys653Met)
14g.33800248G>ACA7150915NPAS3c.1941G>A (p.Lys647=)
c.1950G>A (p.Lys650=)
c.1841G>A
c.793+2667G>A
c.1845G>A (p.Lys615=)
c.1902G>A (p.Lys634=)
c.1851G>A (p.Lys617=)
c.1956G>A (p.Lys652=)
c.1863G>A (p.Lys621=)
c.1962G>A (p.Lys654=)
c.1992G>A (p.Lys664=)
c.1983G>A (p.Lys661=)
c.1953G>A (p.Lys651=)
c.1896G>A (p.Lys632=)
c.1842G>A (p.Lys614=)
c.1635G>A (p.Lys545=)
c.2049G>A (p.Lys683=)
c.2043G>A (p.Lys681=)
c.2040G>A (p.Lys680=)
c.2100G>A (p.Lys700=)
c.2091G>A (p.Lys697=)
c.2010G>A (p.Lys670=)
c.1959G>A (p.Lys653=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800248G>CCA389413195NPAS3c.1941G>C (p.Lys647Asn)
c.1950G>C (p.Lys650Asn)
c.1841G>C
c.793+2667G>C
c.1845G>C (p.Lys615Asn)
c.1902G>C (p.Lys634Asn)
c.1851G>C (p.Lys617Asn)
c.1956G>C (p.Lys652Asn)
c.1863G>C (p.Lys621Asn)
c.1962G>C (p.Lys654Asn)
c.1992G>C (p.Lys664Asn)
c.1983G>C (p.Lys661Asn)
c.1953G>C (p.Lys651Asn)
c.1896G>C (p.Lys632Asn)
c.1842G>C (p.Lys614Asn)
c.1635G>C (p.Lys545Asn)
c.2049G>C (p.Lys683Asn)
c.2043G>C (p.Lys681Asn)
c.2040G>C (p.Lys680Asn)
c.2100G>C (p.Lys700Asn)
c.2091G>C (p.Lys697Asn)
c.2010G>C (p.Lys670Asn)
c.1959G>C (p.Lys653Asn)
14g.33800248G=CA2128327155NPAS3c.1941G= (p.Lys647=)
c.1950G= (p.Lys650=)
c.1841G=
c.793+2667G=
c.1845G= (p.Lys615=)
c.1902G= (p.Lys634=)
c.1851G= (p.Lys617=)
c.1956G= (p.Lys652=)
c.1863G= (p.Lys621=)
c.1962G= (p.Lys654=)
c.1992G= (p.Lys664=)
c.1983G= (p.Lys661=)
c.1953G= (p.Lys651=)
c.1896G= (p.Lys632=)
c.1842G= (p.Lys614=)
c.1635G= (p.Lys545=)
c.2049G= (p.Lys683=)
c.2043G= (p.Lys681=)
c.2040G= (p.Lys680=)
c.2100G= (p.Lys700=)
c.2091G= (p.Lys697=)
c.2010G= (p.Lys670=)
c.1959G= (p.Lys653=)
14g.33800248G>TCA389413193NPAS3c.1941G>T (p.Lys647Asn)
c.1950G>T (p.Lys650Asn)
c.1841G>T
c.793+2667G>T
c.1845G>T (p.Lys615Asn)
c.1902G>T (p.Lys634Asn)
c.1851G>T (p.Lys617Asn)
c.1956G>T (p.Lys652Asn)
c.1863G>T (p.Lys621Asn)
c.1962G>T (p.Lys654Asn)
c.1992G>T (p.Lys664Asn)
c.1983G>T (p.Lys661Asn)
c.1953G>T (p.Lys651Asn)
c.1896G>T (p.Lys632Asn)
c.1842G>T (p.Lys614Asn)
c.1635G>T (p.Lys545Asn)
c.2049G>T (p.Lys683Asn)
c.2043G>T (p.Lys681Asn)
c.2040G>T (p.Lys680Asn)
c.2100G>T (p.Lys700Asn)
c.2091G>T (p.Lys697Asn)
c.2010G>T (p.Lys670Asn)
c.1959G>T (p.Lys653Asn)
14g.33800249A>CCA389413197NPAS3c.1942A>C (p.Ile648Leu)
c.1951A>C (p.Ile651Leu)
c.1842A>C
c.793+2668A>C
c.1846A>C (p.Ile616Leu)
c.1903A>C (p.Ile635Leu)
c.1852A>C (p.Ile618Leu)
c.1957A>C (p.Ile653Leu)
c.1864A>C (p.Ile622Leu)
c.1963A>C (p.Ile655Leu)
c.1993A>C (p.Ile665Leu)
c.1984A>C (p.Ile662Leu)
c.1954A>C (p.Ile652Leu)
c.1897A>C (p.Ile633Leu)
c.1843A>C (p.Ile615Leu)
c.1636A>C (p.Ile546Leu)
c.2050A>C (p.Ile684Leu)
c.2044A>C (p.Ile682Leu)
c.2041A>C (p.Ile681Leu)
c.2101A>C (p.Ile701Leu)
c.2092A>C (p.Ile698Leu)
c.2011A>C (p.Ile671Leu)
c.1960A>C (p.Ile654Leu)
14g.33800249A>GCA389413199NPAS3c.1942A>G (p.Ile648Val)
c.1951A>G (p.Ile651Val)
c.1842A>G
c.793+2668A>G
c.1846A>G (p.Ile616Val)
c.1903A>G (p.Ile635Val)
c.1852A>G (p.Ile618Val)
c.1957A>G (p.Ile653Val)
c.1864A>G (p.Ile622Val)
c.1963A>G (p.Ile655Val)
c.1993A>G (p.Ile665Val)
c.1984A>G (p.Ile662Val)
c.1954A>G (p.Ile652Val)
c.1897A>G (p.Ile633Val)
c.1843A>G (p.Ile615Val)
c.1636A>G (p.Ile546Val)
c.2050A>G (p.Ile684Val)
c.2044A>G (p.Ile682Val)
c.2041A>G (p.Ile681Val)
c.2101A>G (p.Ile701Val)
c.2092A>G (p.Ile698Val)
c.2011A>G (p.Ile671Val)
c.1960A>G (p.Ile654Val)
14g.33800249A>TCA389413200NPAS3c.1942A>T (p.Ile648Phe)
c.1951A>T (p.Ile651Phe)
c.1842A>T
c.793+2668A>T
c.1846A>T (p.Ile616Phe)
c.1903A>T (p.Ile635Phe)
c.1852A>T (p.Ile618Phe)
c.1957A>T (p.Ile653Phe)
c.1864A>T (p.Ile622Phe)
c.1963A>T (p.Ile655Phe)
c.1993A>T (p.Ile665Phe)
c.1984A>T (p.Ile662Phe)
c.1954A>T (p.Ile652Phe)
c.1897A>T (p.Ile633Phe)
c.1843A>T (p.Ile615Phe)
c.1636A>T (p.Ile546Phe)
c.2050A>T (p.Ile684Phe)
c.2044A>T (p.Ile682Phe)
c.2041A>T (p.Ile681Phe)
c.2101A>T (p.Ile701Phe)
c.2092A>T (p.Ile698Phe)
c.2011A>T (p.Ile671Phe)
c.1960A>T (p.Ile654Phe)
 gnomAD v4
14g.33800250T>ACA389413202NPAS3c.1943T>A (p.Ile648Asn)
c.1952T>A (p.Ile651Asn)
c.1843T>A
c.793+2669T>A
c.1847T>A (p.Ile616Asn)
c.1904T>A (p.Ile635Asn)
c.1853T>A (p.Ile618Asn)
c.1958T>A (p.Ile653Asn)
c.1865T>A (p.Ile622Asn)
c.1964T>A (p.Ile655Asn)
c.1994T>A (p.Ile665Asn)
c.1985T>A (p.Ile662Asn)
c.1955T>A (p.Ile652Asn)
c.1898T>A (p.Ile633Asn)
c.1844T>A (p.Ile615Asn)
c.1637T>A (p.Ile546Asn)
c.2051T>A (p.Ile684Asn)
c.2045T>A (p.Ile682Asn)
c.2042T>A (p.Ile681Asn)
c.2102T>A (p.Ile701Asn)
c.2093T>A (p.Ile698Asn)
c.2012T>A (p.Ile671Asn)
c.1961T>A (p.Ile654Asn)
14g.33800250T>CCA389413204NPAS3c.1943T>C (p.Ile648Thr)
c.1952T>C (p.Ile651Thr)
c.1843T>C
c.793+2669T>C
c.1847T>C (p.Ile616Thr)
c.1904T>C (p.Ile635Thr)
c.1853T>C (p.Ile618Thr)
c.1958T>C (p.Ile653Thr)
c.1865T>C (p.Ile622Thr)
c.1964T>C (p.Ile655Thr)
c.1994T>C (p.Ile665Thr)
c.1985T>C (p.Ile662Thr)
c.1955T>C (p.Ile652Thr)
c.1898T>C (p.Ile633Thr)
c.1844T>C (p.Ile615Thr)
c.1637T>C (p.Ile546Thr)
c.2051T>C (p.Ile684Thr)
c.2045T>C (p.Ile682Thr)
c.2042T>C (p.Ile681Thr)
c.2102T>C (p.Ile701Thr)
c.2093T>C (p.Ile698Thr)
c.2012T>C (p.Ile671Thr)
c.1961T>C (p.Ile654Thr)
14g.33800250T>GCA389413205NPAS3c.1943T>G (p.Ile648Ser)
c.1952T>G (p.Ile651Ser)
c.1843T>G
c.793+2669T>G
c.1847T>G (p.Ile616Ser)
c.1904T>G (p.Ile635Ser)
c.1853T>G (p.Ile618Ser)
c.1958T>G (p.Ile653Ser)
c.1865T>G (p.Ile622Ser)
c.1964T>G (p.Ile655Ser)
c.1994T>G (p.Ile665Ser)
c.1985T>G (p.Ile662Ser)
c.1955T>G (p.Ile652Ser)
c.1898T>G (p.Ile633Ser)
c.1844T>G (p.Ile615Ser)
c.1637T>G (p.Ile546Ser)
c.2051T>G (p.Ile684Ser)
c.2045T>G (p.Ile682Ser)
c.2042T>G (p.Ile681Ser)
c.2102T>G (p.Ile701Ser)
c.2093T>G (p.Ile698Ser)
c.2012T>G (p.Ile671Ser)
c.1961T>G (p.Ile654Ser)

Number of alleles fetched