Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.33800198G>A | CA389412988 | NPAS3 | c.1891G>A (p.Val631Met) c.1900G>A (p.Val634Met) c.1791G>A c.793+2617G>A c.1795G>A (p.Val599Met) c.1852G>A (p.Val618Met) c.1801G>A (p.Val601Met) c.1906G>A (p.Val636Met) c.1813G>A (p.Val605Met) c.1912G>A (p.Val638Met) c.1942G>A (p.Val648Met) c.1933G>A (p.Val645Met) c.1903G>A (p.Val635Met) c.1846G>A (p.Val616Met) c.1792G>A (p.Val598Met) c.1585G>A (p.Val529Met) c.1999G>A (p.Val667Met) c.1993G>A (p.Val665Met) c.1990G>A (p.Val664Met) c.2050G>A (p.Val684Met) c.2041G>A (p.Val681Met) c.1960G>A (p.Val654Met) c.1909G>A (p.Val637Met) | |
14 | g.33800198G>C | CA389412989 | NPAS3 | c.1891G>C (p.Val631Leu) c.1900G>C (p.Val634Leu) c.1791G>C c.793+2617G>C c.1795G>C (p.Val599Leu) c.1852G>C (p.Val618Leu) c.1801G>C (p.Val601Leu) c.1906G>C (p.Val636Leu) c.1813G>C (p.Val605Leu) c.1912G>C (p.Val638Leu) c.1942G>C (p.Val648Leu) c.1933G>C (p.Val645Leu) c.1903G>C (p.Val635Leu) c.1846G>C (p.Val616Leu) c.1792G>C (p.Val598Leu) c.1585G>C (p.Val529Leu) c.1999G>C (p.Val667Leu) c.1993G>C (p.Val665Leu) c.1990G>C (p.Val664Leu) c.2050G>C (p.Val684Leu) c.2041G>C (p.Val681Leu) c.1960G>C (p.Val654Leu) c.1909G>C (p.Val637Leu) | COSMIC COSMIC COSMIC |
14 | g.33800198G= | CA2128327060 | NPAS3 | c.1891G= (p.Val631=) c.1900G= (p.Val634=) c.1791G= c.793+2617G= c.1795G= (p.Val599=) c.1852G= (p.Val618=) c.1801G= (p.Val601=) c.1906G= (p.Val636=) c.1813G= (p.Val605=) c.1912G= (p.Val638=) c.1942G= (p.Val648=) c.1933G= (p.Val645=) c.1903G= (p.Val635=) c.1846G= (p.Val616=) c.1792G= (p.Val598=) c.1585G= (p.Val529=) c.1999G= (p.Val667=) c.1993G= (p.Val665=) c.1990G= (p.Val664=) c.2050G= (p.Val684=) c.2041G= (p.Val681=) c.1960G= (p.Val654=) c.1909G= (p.Val637=) | |
14 | g.33800198G>T | CA389412991 | NPAS3 | c.1891G>T (p.Val631Leu) c.1900G>T (p.Val634Leu) c.1791G>T c.793+2617G>T c.1795G>T (p.Val599Leu) c.1852G>T (p.Val618Leu) c.1801G>T (p.Val601Leu) c.1906G>T (p.Val636Leu) c.1813G>T (p.Val605Leu) c.1912G>T (p.Val638Leu) c.1942G>T (p.Val648Leu) c.1933G>T (p.Val645Leu) c.1903G>T (p.Val635Leu) c.1846G>T (p.Val616Leu) c.1792G>T (p.Val598Leu) c.1585G>T (p.Val529Leu) c.1999G>T (p.Val667Leu) c.1993G>T (p.Val665Leu) c.1990G>T (p.Val664Leu) c.2050G>T (p.Val684Leu) c.2041G>T (p.Val681Leu) c.1960G>T (p.Val654Leu) c.1909G>T (p.Val637Leu) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800199T>A | CA389412993 | NPAS3 | c.1892T>A (p.Val631Glu) c.1901T>A (p.Val634Glu) c.1792T>A c.793+2618T>A c.1796T>A (p.Val599Glu) c.1853T>A (p.Val618Glu) c.1802T>A (p.Val601Glu) c.1907T>A (p.Val636Glu) c.1814T>A (p.Val605Glu) c.1913T>A (p.Val638Glu) c.1943T>A (p.Val648Glu) c.1934T>A (p.Val645Glu) c.1904T>A (p.Val635Glu) c.1847T>A (p.Val616Glu) c.1793T>A (p.Val598Glu) c.1586T>A (p.Val529Glu) c.2000T>A (p.Val667Glu) c.1994T>A (p.Val665Glu) c.1991T>A (p.Val664Glu) c.2051T>A (p.Val684Glu) c.2042T>A (p.Val681Glu) c.1961T>A (p.Val654Glu) c.1910T>A (p.Val637Glu) | |
14 | g.33800199T>C | CA389412995 | NPAS3 | c.1892T>C (p.Val631Ala) c.1901T>C (p.Val634Ala) c.1792T>C c.793+2618T>C c.1796T>C (p.Val599Ala) c.1853T>C (p.Val618Ala) c.1802T>C (p.Val601Ala) c.1907T>C (p.Val636Ala) c.1814T>C (p.Val605Ala) c.1913T>C (p.Val638Ala) c.1943T>C (p.Val648Ala) c.1934T>C (p.Val645Ala) c.1904T>C (p.Val635Ala) c.1847T>C (p.Val616Ala) c.1793T>C (p.Val598Ala) c.1586T>C (p.Val529Ala) c.2000T>C (p.Val667Ala) c.1994T>C (p.Val665Ala) c.1991T>C (p.Val664Ala) c.2051T>C (p.Val684Ala) c.2042T>C (p.Val681Ala) c.1961T>C (p.Val654Ala) c.1910T>C (p.Val637Ala) | gnomAD v4 |
14 | g.33800199T>G | CA389412997 | NPAS3 | c.1892T>G (p.Val631Gly) c.1901T>G (p.Val634Gly) c.1792T>G c.793+2618T>G c.1796T>G (p.Val599Gly) c.1853T>G (p.Val618Gly) c.1802T>G (p.Val601Gly) c.1907T>G (p.Val636Gly) c.1814T>G (p.Val605Gly) c.1913T>G (p.Val638Gly) c.1943T>G (p.Val648Gly) c.1934T>G (p.Val645Gly) c.1904T>G (p.Val635Gly) c.1847T>G (p.Val616Gly) c.1793T>G (p.Val598Gly) c.1586T>G (p.Val529Gly) c.2000T>G (p.Val667Gly) c.1994T>G (p.Val665Gly) c.1991T>G (p.Val664Gly) c.2051T>G (p.Val684Gly) c.2042T>G (p.Val681Gly) c.1961T>G (p.Val654Gly) c.1910T>G (p.Val637Gly) | dbSNP |
14 | g.33800199T= | CA2128327063 | NPAS3 | c.1892T= (p.Val631=) c.1901T= (p.Val634=) c.1792T= c.793+2618T= c.1796T= (p.Val599=) c.1853T= (p.Val618=) c.1802T= (p.Val601=) c.1907T= (p.Val636=) c.1814T= (p.Val605=) c.1913T= (p.Val638=) c.1943T= (p.Val648=) c.1934T= (p.Val645=) c.1904T= (p.Val635=) c.1847T= (p.Val616=) c.1793T= (p.Val598=) c.1586T= (p.Val529=) c.2000T= (p.Val667=) c.1994T= (p.Val665=) c.1991T= (p.Val664=) c.2051T= (p.Val684=) c.2042T= (p.Val681=) c.1961T= (p.Val654=) c.1910T= (p.Val637=) | |
14 | g.33800200G>A | CA486092901 | NPAS3 | c.1893G>A (p.Val631=) c.1902G>A (p.Val634=) c.1793G>A c.793+2619G>A c.1797G>A (p.Val599=) c.1854G>A (p.Val618=) c.1803G>A (p.Val601=) c.1908G>A (p.Val636=) c.1815G>A (p.Val605=) c.1914G>A (p.Val638=) c.1944G>A (p.Val648=) c.1935G>A (p.Val645=) c.1905G>A (p.Val635=) c.1848G>A (p.Val616=) c.1794G>A (p.Val598=) c.1587G>A (p.Val529=) c.2001G>A (p.Val667=) c.1995G>A (p.Val665=) c.1992G>A (p.Val664=) c.2052G>A (p.Val684=) c.2043G>A (p.Val681=) c.1962G>A (p.Val654=) c.1911G>A (p.Val637=) | gnomAD v4 |
14 | g.33800200G>C | CA486092902 | NPAS3 | c.1893G>C (p.Val631=) c.1902G>C (p.Val634=) c.1793G>C c.793+2619G>C c.1797G>C (p.Val599=) c.1854G>C (p.Val618=) c.1803G>C (p.Val601=) c.1908G>C (p.Val636=) c.1815G>C (p.Val605=) c.1914G>C (p.Val638=) c.1944G>C (p.Val648=) c.1935G>C (p.Val645=) c.1905G>C (p.Val635=) c.1848G>C (p.Val616=) c.1794G>C (p.Val598=) c.1587G>C (p.Val529=) c.2001G>C (p.Val667=) c.1995G>C (p.Val665=) c.1992G>C (p.Val664=) c.2052G>C (p.Val684=) c.2043G>C (p.Val681=) c.1962G>C (p.Val654=) c.1911G>C (p.Val637=) | |
14 | g.33800200G>T | CA486092903 | NPAS3 | c.1893G>T (p.Val631=) c.1902G>T (p.Val634=) c.1793G>T c.793+2619G>T c.1797G>T (p.Val599=) c.1854G>T (p.Val618=) c.1803G>T (p.Val601=) c.1908G>T (p.Val636=) c.1815G>T (p.Val605=) c.1914G>T (p.Val638=) c.1944G>T (p.Val648=) c.1935G>T (p.Val645=) c.1905G>T (p.Val635=) c.1848G>T (p.Val616=) c.1794G>T (p.Val598=) c.1587G>T (p.Val529=) c.2001G>T (p.Val667=) c.1995G>T (p.Val665=) c.1992G>T (p.Val664=) c.2052G>T (p.Val684=) c.2043G>T (p.Val681=) c.1962G>T (p.Val654=) c.1911G>T (p.Val637=) | |
14 | g.33800201G>A | CA389413000 | NPAS3 | c.1894G>A (p.Glu632Lys) c.1903G>A (p.Glu635Lys) c.1794G>A c.793+2620G>A c.1798G>A (p.Glu600Lys) c.1855G>A (p.Glu619Lys) c.1804G>A (p.Glu602Lys) c.1909G>A (p.Glu637Lys) c.1816G>A (p.Glu606Lys) c.1915G>A (p.Glu639Lys) c.1945G>A (p.Glu649Lys) c.1936G>A (p.Glu646Lys) c.1906G>A (p.Glu636Lys) c.1849G>A (p.Glu617Lys) c.1795G>A (p.Glu599Lys) c.1588G>A (p.Glu530Lys) c.2002G>A (p.Glu668Lys) c.1996G>A (p.Glu666Lys) c.1993G>A (p.Glu665Lys) c.2053G>A (p.Glu685Lys) c.2044G>A (p.Glu682Lys) c.1963G>A (p.Glu655Lys) c.1912G>A (p.Glu638Lys) | |
14 | g.33800201G>C | CA389413002 | NPAS3 | c.1894G>C (p.Glu632Gln) c.1903G>C (p.Glu635Gln) c.1794G>C c.793+2620G>C c.1798G>C (p.Glu600Gln) c.1855G>C (p.Glu619Gln) c.1804G>C (p.Glu602Gln) c.1909G>C (p.Glu637Gln) c.1816G>C (p.Glu606Gln) c.1915G>C (p.Glu639Gln) c.1945G>C (p.Glu649Gln) c.1936G>C (p.Glu646Gln) c.1906G>C (p.Glu636Gln) c.1849G>C (p.Glu617Gln) c.1795G>C (p.Glu599Gln) c.1588G>C (p.Glu530Gln) c.2002G>C (p.Glu668Gln) c.1996G>C (p.Glu666Gln) c.1993G>C (p.Glu665Gln) c.2053G>C (p.Glu685Gln) c.2044G>C (p.Glu682Gln) c.1963G>C (p.Glu655Gln) c.1912G>C (p.Glu638Gln) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800201G= | CA2128327066 | NPAS3 | c.1894G= (p.Glu632=) c.1903G= (p.Glu635=) c.1794G= c.793+2620G= c.1798G= (p.Glu600=) c.1855G= (p.Glu619=) c.1804G= (p.Glu602=) c.1909G= (p.Glu637=) c.1816G= (p.Glu606=) c.1915G= (p.Glu639=) c.1945G= (p.Glu649=) c.1936G= (p.Glu646=) c.1906G= (p.Glu636=) c.1849G= (p.Glu617=) c.1795G= (p.Glu599=) c.1588G= (p.Glu530=) c.2002G= (p.Glu668=) c.1996G= (p.Glu666=) c.1993G= (p.Glu665=) c.2053G= (p.Glu685=) c.2044G= (p.Glu682=) c.1963G= (p.Glu655=) c.1912G= (p.Glu638=) | |
14 | g.33800201G>T | CA389413004 | NPAS3 | c.1894G>T (p.Glu632Ter) c.1903G>T (p.Glu635Ter) c.1794G>T c.793+2620G>T c.1798G>T (p.Glu600Ter) c.1855G>T (p.Glu619Ter) c.1804G>T (p.Glu602Ter) c.1909G>T (p.Glu637Ter) c.1816G>T (p.Glu606Ter) c.1915G>T (p.Glu639Ter) c.1945G>T (p.Glu649Ter) c.1936G>T (p.Glu646Ter) c.1906G>T (p.Glu636Ter) c.1849G>T (p.Glu617Ter) c.1795G>T (p.Glu599Ter) c.1588G>T (p.Glu530Ter) c.2002G>T (p.Glu668Ter) c.1996G>T (p.Glu666Ter) c.1993G>T (p.Glu665Ter) c.2053G>T (p.Glu685Ter) c.2044G>T (p.Glu682Ter) c.1963G>T (p.Glu655Ter) c.1912G>T (p.Glu638Ter) | |
14 | g.33800202A>C | CA389413008 | NPAS3 | c.1895A>C (p.Glu632Ala) c.1904A>C (p.Glu635Ala) c.1795A>C c.793+2621A>C c.1799A>C (p.Glu600Ala) c.1856A>C (p.Glu619Ala) c.1805A>C (p.Glu602Ala) c.1910A>C (p.Glu637Ala) c.1817A>C (p.Glu606Ala) c.1916A>C (p.Glu639Ala) c.1946A>C (p.Glu649Ala) c.1937A>C (p.Glu646Ala) c.1907A>C (p.Glu636Ala) c.1850A>C (p.Glu617Ala) c.1796A>C (p.Glu599Ala) c.1589A>C (p.Glu530Ala) c.2003A>C (p.Glu668Ala) c.1997A>C (p.Glu666Ala) c.1994A>C (p.Glu665Ala) c.2054A>C (p.Glu685Ala) c.2045A>C (p.Glu682Ala) c.1964A>C (p.Glu655Ala) c.1913A>C (p.Glu638Ala) | |
14 | g.33800202A>G | CA389413010 | NPAS3 | c.1895A>G (p.Glu632Gly) c.1904A>G (p.Glu635Gly) c.1795A>G c.793+2621A>G c.1799A>G (p.Glu600Gly) c.1856A>G (p.Glu619Gly) c.1805A>G (p.Glu602Gly) c.1910A>G (p.Glu637Gly) c.1817A>G (p.Glu606Gly) c.1916A>G (p.Glu639Gly) c.1946A>G (p.Glu649Gly) c.1937A>G (p.Glu646Gly) c.1907A>G (p.Glu636Gly) c.1850A>G (p.Glu617Gly) c.1796A>G (p.Glu599Gly) c.1589A>G (p.Glu530Gly) c.2003A>G (p.Glu668Gly) c.1997A>G (p.Glu666Gly) c.1994A>G (p.Glu665Gly) c.2054A>G (p.Glu685Gly) c.2045A>G (p.Glu682Gly) c.1964A>G (p.Glu655Gly) c.1913A>G (p.Glu638Gly) | |
14 | g.33800202A>T | CA389413006 | NPAS3 | c.1895A>T (p.Glu632Val) c.1904A>T (p.Glu635Val) c.1795A>T c.793+2621A>T c.1799A>T (p.Glu600Val) c.1856A>T (p.Glu619Val) c.1805A>T (p.Glu602Val) c.1910A>T (p.Glu637Val) c.1817A>T (p.Glu606Val) c.1916A>T (p.Glu639Val) c.1946A>T (p.Glu649Val) c.1937A>T (p.Glu646Val) c.1907A>T (p.Glu636Val) c.1850A>T (p.Glu617Val) c.1796A>T (p.Glu599Val) c.1589A>T (p.Glu530Val) c.2003A>T (p.Glu668Val) c.1997A>T (p.Glu666Val) c.1994A>T (p.Glu665Val) c.2054A>T (p.Glu685Val) c.2045A>T (p.Glu682Val) c.1964A>T (p.Glu655Val) c.1913A>T (p.Glu638Val) | |
14 | g.33800203del | CA2590793620 | NPAS3 | c.1896del (p.Glu632AspfsTer?) c.1905del (p.Glu635AspfsTer?) c.1796del c.793+2622del c.1800del (p.Glu600AspfsTer?) c.1857del (p.Glu619AspfsTer?) c.1806del (p.Glu602AspfsTer?) c.1911del (p.Glu637AspfsTer?) c.1818del (p.Glu606AspfsTer?) c.1917del (p.Glu639AspfsTer?) c.1947del (p.Glu649AspfsTer?) c.1938del (p.Glu646AspfsTer?) c.1908del (p.Glu636AspfsTer?) c.1851del (p.Glu617AspfsTer?) c.1797del (p.Glu599AspfsTer?) c.1590del (p.Glu530AspfsTer?) c.2004del (p.Glu668AspfsTer?) c.1998del (p.Glu666AspfsTer?) c.1995del (p.Glu665AspfsTer?) c.2055del (p.Glu685AspfsTer?) c.2046del (p.Glu682AspfsTer?) c.1965del (p.Glu655AspfsTer?) c.1914del (p.Glu638AspfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800203G>A | CA486092905 | NPAS3 | c.1896G>A (p.Glu632=) c.1905G>A (p.Glu635=) c.1796G>A c.793+2622G>A c.1800G>A (p.Glu600=) c.1857G>A (p.Glu619=) c.1806G>A (p.Glu602=) c.1911G>A (p.Glu637=) c.1818G>A (p.Glu606=) c.1917G>A (p.Glu639=) c.1947G>A (p.Glu649=) c.1938G>A (p.Glu646=) c.1908G>A (p.Glu636=) c.1851G>A (p.Glu617=) c.1797G>A (p.Glu599=) c.1590G>A (p.Glu530=) c.2004G>A (p.Glu668=) c.1998G>A (p.Glu666=) c.1995G>A (p.Glu665=) c.2055G>A (p.Glu685=) c.2046G>A (p.Glu682=) c.1965G>A (p.Glu655=) c.1914G>A (p.Glu638=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800203G>C | CA389413014 | NPAS3 | c.1896G>C (p.Glu632Asp) c.1905G>C (p.Glu635Asp) c.1796G>C c.793+2622G>C c.1800G>C (p.Glu600Asp) c.1857G>C (p.Glu619Asp) c.1806G>C (p.Glu602Asp) c.1911G>C (p.Glu637Asp) c.1818G>C (p.Glu606Asp) c.1917G>C (p.Glu639Asp) c.1947G>C (p.Glu649Asp) c.1938G>C (p.Glu646Asp) c.1908G>C (p.Glu636Asp) c.1851G>C (p.Glu617Asp) c.1797G>C (p.Glu599Asp) c.1590G>C (p.Glu530Asp) c.2004G>C (p.Glu668Asp) c.1998G>C (p.Glu666Asp) c.1995G>C (p.Glu665Asp) c.2055G>C (p.Glu685Asp) c.2046G>C (p.Glu682Asp) c.1965G>C (p.Glu655Asp) c.1914G>C (p.Glu638Asp) | |
14 | g.33800203G= | CA2128327069 | NPAS3 | c.1896G= (p.Glu632=) c.1905G= (p.Glu635=) c.1796G= c.793+2622G= c.1800G= (p.Glu600=) c.1857G= (p.Glu619=) c.1806G= (p.Glu602=) c.1911G= (p.Glu637=) c.1818G= (p.Glu606=) c.1917G= (p.Glu639=) c.1947G= (p.Glu649=) c.1938G= (p.Glu646=) c.1908G= (p.Glu636=) c.1851G= (p.Glu617=) c.1797G= (p.Glu599=) c.1590G= (p.Glu530=) c.2004G= (p.Glu668=) c.1998G= (p.Glu666=) c.1995G= (p.Glu665=) c.2055G= (p.Glu685=) c.2046G= (p.Glu682=) c.1965G= (p.Glu655=) c.1914G= (p.Glu638=) | |
14 | g.33800203G>T | CA389413012 | NPAS3 | c.1896G>T (p.Glu632Asp) c.1905G>T (p.Glu635Asp) c.1796G>T c.793+2622G>T c.1800G>T (p.Glu600Asp) c.1857G>T (p.Glu619Asp) c.1806G>T (p.Glu602Asp) c.1911G>T (p.Glu637Asp) c.1818G>T (p.Glu606Asp) c.1917G>T (p.Glu639Asp) c.1947G>T (p.Glu649Asp) c.1938G>T (p.Glu646Asp) c.1908G>T (p.Glu636Asp) c.1851G>T (p.Glu617Asp) c.1797G>T (p.Glu599Asp) c.1590G>T (p.Glu530Asp) c.2004G>T (p.Glu668Asp) c.1998G>T (p.Glu666Asp) c.1995G>T (p.Glu665Asp) c.2055G>T (p.Glu685Asp) c.2046G>T (p.Glu682Asp) c.1965G>T (p.Glu655Asp) c.1914G>T (p.Glu638Asp) | |
14 | g.33800204C>A | CA389413016 | NPAS3 | c.1897C>A (p.Pro633Thr) c.1906C>A (p.Pro636Thr) c.1797C>A c.793+2623C>A c.1801C>A (p.Pro601Thr) c.1858C>A (p.Pro620Thr) c.1807C>A (p.Pro603Thr) c.1912C>A (p.Pro638Thr) c.1819C>A (p.Pro607Thr) c.1918C>A (p.Pro640Thr) c.1948C>A (p.Pro650Thr) c.1939C>A (p.Pro647Thr) c.1909C>A (p.Pro637Thr) c.1852C>A (p.Pro618Thr) c.1798C>A (p.Pro600Thr) c.1591C>A (p.Pro531Thr) c.2005C>A (p.Pro669Thr) c.1999C>A (p.Pro667Thr) c.1996C>A (p.Pro666Thr) c.2056C>A (p.Pro686Thr) c.2047C>A (p.Pro683Thr) c.1966C>A (p.Pro656Thr) c.1915C>A (p.Pro639Thr) | |
14 | g.33800204C>G | CA389413018 | NPAS3 | c.1897C>G (p.Pro633Ala) c.1906C>G (p.Pro636Ala) c.1797C>G c.793+2623C>G c.1801C>G (p.Pro601Ala) c.1858C>G (p.Pro620Ala) c.1807C>G (p.Pro603Ala) c.1912C>G (p.Pro638Ala) c.1819C>G (p.Pro607Ala) c.1918C>G (p.Pro640Ala) c.1948C>G (p.Pro650Ala) c.1939C>G (p.Pro647Ala) c.1909C>G (p.Pro637Ala) c.1852C>G (p.Pro618Ala) c.1798C>G (p.Pro600Ala) c.1591C>G (p.Pro531Ala) c.2005C>G (p.Pro669Ala) c.1999C>G (p.Pro667Ala) c.1996C>G (p.Pro666Ala) c.2056C>G (p.Pro686Ala) c.2047C>G (p.Pro683Ala) c.1966C>G (p.Pro656Ala) c.1915C>G (p.Pro639Ala) | |
14 | g.33800204C>T | CA389413020 | NPAS3 | c.1897C>T (p.Pro633Ser) c.1906C>T (p.Pro636Ser) c.1797C>T c.793+2623C>T c.1801C>T (p.Pro601Ser) c.1858C>T (p.Pro620Ser) c.1807C>T (p.Pro603Ser) c.1912C>T (p.Pro638Ser) c.1819C>T (p.Pro607Ser) c.1918C>T (p.Pro640Ser) c.1948C>T (p.Pro650Ser) c.1939C>T (p.Pro647Ser) c.1909C>T (p.Pro637Ser) c.1852C>T (p.Pro618Ser) c.1798C>T (p.Pro600Ser) c.1591C>T (p.Pro531Ser) c.2005C>T (p.Pro669Ser) c.1999C>T (p.Pro667Ser) c.1996C>T (p.Pro666Ser) c.2056C>T (p.Pro686Ser) c.2047C>T (p.Pro683Ser) c.1966C>T (p.Pro656Ser) c.1915C>T (p.Pro639Ser) | COSMIC COSMIC COSMIC |
14 | g.33800208dup | CA2832561242 | NPAS3 | c.1901dup (p.Arg635AlafsTer27) c.1910dup (p.Arg638AlafsTer27) c.1801dup c.793+2627dup c.1805dup (p.Arg603AlafsTer27) c.1862dup (p.Arg622AlafsTer27) c.1811dup (p.Arg605AlafsTer27) c.1916dup (p.Arg640AlafsTer27) c.1823dup (p.Arg609AlafsTer27) c.1922dup (p.Arg642AlafsTer27) c.1952dup (p.Arg652AlafsTer27) c.1943dup (p.Arg649AlafsTer27) c.1913dup (p.Arg639AlafsTer27) c.1856dup (p.Arg620AlafsTer27) c.1802dup (p.Arg602AlafsTer27) c.1595dup (p.Arg533AlafsTer27) c.2009dup (p.Arg671AlafsTer27) c.2003dup (p.Arg669AlafsTer27) c.2000dup (p.Arg668AlafsTer27) c.2060dup (p.Arg688AlafsTer27) c.2051dup (p.Arg685AlafsTer27) c.1970dup (p.Arg658AlafsTer27) c.1919dup (p.Arg641AlafsTer27) | |
14 | g.33800208del | CA2624512028 | NPAS3 | c.1901del (p.Pro634ArgfsTer?) c.1910del (p.Pro637ArgfsTer?) c.1801del c.793+2627del c.1805del (p.Pro602ArgfsTer?) c.1862del (p.Pro621ArgfsTer?) c.1811del (p.Pro604ArgfsTer?) c.1916del (p.Pro639ArgfsTer?) c.1823del (p.Pro608ArgfsTer?) c.1922del (p.Pro641ArgfsTer?) c.1952del (p.Pro651ArgfsTer?) c.1943del (p.Pro648ArgfsTer?) c.1913del (p.Pro638ArgfsTer?) c.1856del (p.Pro619ArgfsTer?) c.1802del (p.Pro601ArgfsTer?) c.1595del (p.Pro532ArgfsTer?) c.2009del (p.Pro670ArgfsTer?) c.2003del (p.Pro668ArgfsTer?) c.2000del (p.Pro667ArgfsTer?) c.2060del (p.Pro687ArgfsTer?) c.2051del (p.Pro684ArgfsTer?) c.1970del (p.Pro657ArgfsTer?) c.1919del (p.Pro640ArgfsTer?) | gnomAD v4 |
14 | g.33800205C>A | CA389413022 | NPAS3 | c.1898C>A (p.Pro633His) c.1907C>A (p.Pro636His) c.1798C>A c.793+2624C>A c.1802C>A (p.Pro601His) c.1859C>A (p.Pro620His) c.1808C>A (p.Pro603His) c.1913C>A (p.Pro638His) c.1820C>A (p.Pro607His) c.1919C>A (p.Pro640His) c.1949C>A (p.Pro650His) c.1940C>A (p.Pro647His) c.1910C>A (p.Pro637His) c.1853C>A (p.Pro618His) c.1799C>A (p.Pro600His) c.1592C>A (p.Pro531His) c.2006C>A (p.Pro669His) c.2000C>A (p.Pro667His) c.1997C>A (p.Pro666His) c.2057C>A (p.Pro686His) c.2048C>A (p.Pro683His) c.1967C>A (p.Pro656His) c.1916C>A (p.Pro639His) | COSMIC COSMIC COSMIC |
14 | g.33800205C>G | CA389413024 | NPAS3 | c.1898C>G (p.Pro633Arg) c.1907C>G (p.Pro636Arg) c.1798C>G c.793+2624C>G c.1802C>G (p.Pro601Arg) c.1859C>G (p.Pro620Arg) c.1808C>G (p.Pro603Arg) c.1913C>G (p.Pro638Arg) c.1820C>G (p.Pro607Arg) c.1919C>G (p.Pro640Arg) c.1949C>G (p.Pro650Arg) c.1940C>G (p.Pro647Arg) c.1910C>G (p.Pro637Arg) c.1853C>G (p.Pro618Arg) c.1799C>G (p.Pro600Arg) c.1592C>G (p.Pro531Arg) c.2006C>G (p.Pro669Arg) c.2000C>G (p.Pro667Arg) c.1997C>G (p.Pro666Arg) c.2057C>G (p.Pro686Arg) c.2048C>G (p.Pro683Arg) c.1967C>G (p.Pro656Arg) c.1916C>G (p.Pro639Arg) | |
14 | g.33800205C>T | CA389413026 | NPAS3 | c.1898C>T (p.Pro633Leu) c.1907C>T (p.Pro636Leu) c.1798C>T c.793+2624C>T c.1802C>T (p.Pro601Leu) c.1859C>T (p.Pro620Leu) c.1808C>T (p.Pro603Leu) c.1913C>T (p.Pro638Leu) c.1820C>T (p.Pro607Leu) c.1919C>T (p.Pro640Leu) c.1949C>T (p.Pro650Leu) c.1940C>T (p.Pro647Leu) c.1910C>T (p.Pro637Leu) c.1853C>T (p.Pro618Leu) c.1799C>T (p.Pro600Leu) c.1592C>T (p.Pro531Leu) c.2006C>T (p.Pro669Leu) c.2000C>T (p.Pro667Leu) c.1997C>T (p.Pro666Leu) c.2057C>T (p.Pro686Leu) c.2048C>T (p.Pro683Leu) c.1967C>T (p.Pro656Leu) c.1916C>T (p.Pro639Leu) | |
14 | g.33800206C>A | CA486092906 | NPAS3 | c.1899C>A (p.Pro633=) c.1908C>A (p.Pro636=) c.1799C>A c.793+2625C>A c.1803C>A (p.Pro601=) c.1860C>A (p.Pro620=) c.1809C>A (p.Pro603=) c.1914C>A (p.Pro638=) c.1821C>A (p.Pro607=) c.1920C>A (p.Pro640=) c.1950C>A (p.Pro650=) c.1941C>A (p.Pro647=) c.1911C>A (p.Pro637=) c.1854C>A (p.Pro618=) c.1800C>A (p.Pro600=) c.1593C>A (p.Pro531=) c.2007C>A (p.Pro669=) c.2001C>A (p.Pro667=) c.1998C>A (p.Pro666=) c.2058C>A (p.Pro686=) c.2049C>A (p.Pro683=) c.1968C>A (p.Pro656=) c.1917C>A (p.Pro639=) | |
14 | g.33800206C>G | CA486092907 | NPAS3 | c.1899C>G (p.Pro633=) c.1908C>G (p.Pro636=) c.1799C>G c.793+2625C>G c.1803C>G (p.Pro601=) c.1860C>G (p.Pro620=) c.1809C>G (p.Pro603=) c.1914C>G (p.Pro638=) c.1821C>G (p.Pro607=) c.1920C>G (p.Pro640=) c.1950C>G (p.Pro650=) c.1941C>G (p.Pro647=) c.1911C>G (p.Pro637=) c.1854C>G (p.Pro618=) c.1800C>G (p.Pro600=) c.1593C>G (p.Pro531=) c.2007C>G (p.Pro669=) c.2001C>G (p.Pro667=) c.1998C>G (p.Pro666=) c.2058C>G (p.Pro686=) c.2049C>G (p.Pro683=) c.1968C>G (p.Pro656=) c.1917C>G (p.Pro639=) | |
14 | g.33800206C>T | CA486092909 | NPAS3 | c.1899C>T (p.Pro633=) c.1908C>T (p.Pro636=) c.1799C>T c.793+2625C>T c.1803C>T (p.Pro601=) c.1860C>T (p.Pro620=) c.1809C>T (p.Pro603=) c.1914C>T (p.Pro638=) c.1821C>T (p.Pro607=) c.1920C>T (p.Pro640=) c.1950C>T (p.Pro650=) c.1941C>T (p.Pro647=) c.1911C>T (p.Pro637=) c.1854C>T (p.Pro618=) c.1800C>T (p.Pro600=) c.1593C>T (p.Pro531=) c.2007C>T (p.Pro669=) c.2001C>T (p.Pro667=) c.1998C>T (p.Pro666=) c.2058C>T (p.Pro686=) c.2049C>T (p.Pro683=) c.1968C>T (p.Pro656=) c.1917C>T (p.Pro639=) | |
14 | g.33800207C>A | CA389413029 | NPAS3 | c.1900C>A (p.Pro634Thr) c.1909C>A (p.Pro637Thr) c.1800C>A c.793+2626C>A c.1804C>A (p.Pro602Thr) c.1861C>A (p.Pro621Thr) c.1810C>A (p.Pro604Thr) c.1915C>A (p.Pro639Thr) c.1822C>A (p.Pro608Thr) c.1921C>A (p.Pro641Thr) c.1951C>A (p.Pro651Thr) c.1942C>A (p.Pro648Thr) c.1912C>A (p.Pro638Thr) c.1855C>A (p.Pro619Thr) c.1801C>A (p.Pro601Thr) c.1594C>A (p.Pro532Thr) c.2008C>A (p.Pro670Thr) c.2002C>A (p.Pro668Thr) c.1999C>A (p.Pro667Thr) c.2059C>A (p.Pro687Thr) c.2050C>A (p.Pro684Thr) c.1969C>A (p.Pro657Thr) c.1918C>A (p.Pro640Thr) | |
14 | g.33800207C= | CA2128327072 | NPAS3 | c.1900C= (p.Pro634=) c.1909C= (p.Pro637=) c.1800C= c.793+2626C= c.1804C= (p.Pro602=) c.1861C= (p.Pro621=) c.1810C= (p.Pro604=) c.1915C= (p.Pro639=) c.1822C= (p.Pro608=) c.1921C= (p.Pro641=) c.1951C= (p.Pro651=) c.1942C= (p.Pro648=) c.1912C= (p.Pro638=) c.1855C= (p.Pro619=) c.1801C= (p.Pro601=) c.1594C= (p.Pro532=) c.2008C= (p.Pro670=) c.2002C= (p.Pro668=) c.1999C= (p.Pro667=) c.2059C= (p.Pro687=) c.2050C= (p.Pro684=) c.1969C= (p.Pro657=) c.1918C= (p.Pro640=) | |
14 | g.33800207C>G | CA389413030 | NPAS3 | c.1900C>G (p.Pro634Ala) c.1909C>G (p.Pro637Ala) c.1800C>G c.793+2626C>G c.1804C>G (p.Pro602Ala) c.1861C>G (p.Pro621Ala) c.1810C>G (p.Pro604Ala) c.1915C>G (p.Pro639Ala) c.1822C>G (p.Pro608Ala) c.1921C>G (p.Pro641Ala) c.1951C>G (p.Pro651Ala) c.1942C>G (p.Pro648Ala) c.1912C>G (p.Pro638Ala) c.1855C>G (p.Pro619Ala) c.1801C>G (p.Pro601Ala) c.1594C>G (p.Pro532Ala) c.2008C>G (p.Pro670Ala) c.2002C>G (p.Pro668Ala) c.1999C>G (p.Pro667Ala) c.2059C>G (p.Pro687Ala) c.2050C>G (p.Pro684Ala) c.1969C>G (p.Pro657Ala) c.1918C>G (p.Pro640Ala) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800207C>T | CA389413032 | NPAS3 | c.1900C>T (p.Pro634Ser) c.1909C>T (p.Pro637Ser) c.1800C>T c.793+2626C>T c.1804C>T (p.Pro602Ser) c.1861C>T (p.Pro621Ser) c.1810C>T (p.Pro604Ser) c.1915C>T (p.Pro639Ser) c.1822C>T (p.Pro608Ser) c.1921C>T (p.Pro641Ser) c.1951C>T (p.Pro651Ser) c.1942C>T (p.Pro648Ser) c.1912C>T (p.Pro638Ser) c.1855C>T (p.Pro619Ser) c.1801C>T (p.Pro601Ser) c.1594C>T (p.Pro532Ser) c.2008C>T (p.Pro670Ser) c.2002C>T (p.Pro668Ser) c.1999C>T (p.Pro667Ser) c.2059C>T (p.Pro687Ser) c.2050C>T (p.Pro684Ser) c.1969C>T (p.Pro657Ser) c.1918C>T (p.Pro640Ser) | |
14 | g.33800208C>A | CA389413034 | NPAS3 | c.1901C>A (p.Pro634Gln) c.1910C>A (p.Pro637Gln) c.1801C>A c.793+2627C>A c.1805C>A (p.Pro602Gln) c.1862C>A (p.Pro621Gln) c.1811C>A (p.Pro604Gln) c.1916C>A (p.Pro639Gln) c.1823C>A (p.Pro608Gln) c.1922C>A (p.Pro641Gln) c.1952C>A (p.Pro651Gln) c.1943C>A (p.Pro648Gln) c.1913C>A (p.Pro638Gln) c.1856C>A (p.Pro619Gln) c.1802C>A (p.Pro601Gln) c.1595C>A (p.Pro532Gln) c.2009C>A (p.Pro670Gln) c.2003C>A (p.Pro668Gln) c.2000C>A (p.Pro667Gln) c.2060C>A (p.Pro687Gln) c.2051C>A (p.Pro684Gln) c.1970C>A (p.Pro657Gln) c.1919C>A (p.Pro640Gln) | gnomAD v4 |
14 | g.33800208C= | CA2128327075 | NPAS3 | c.1901C= (p.Pro634=) c.1910C= (p.Pro637=) c.1801C= c.793+2627C= c.1805C= (p.Pro602=) c.1862C= (p.Pro621=) c.1811C= (p.Pro604=) c.1916C= (p.Pro639=) c.1823C= (p.Pro608=) c.1922C= (p.Pro641=) c.1952C= (p.Pro651=) c.1943C= (p.Pro648=) c.1913C= (p.Pro638=) c.1856C= (p.Pro619=) c.1802C= (p.Pro601=) c.1595C= (p.Pro532=) c.2009C= (p.Pro670=) c.2003C= (p.Pro668=) c.2000C= (p.Pro667=) c.2060C= (p.Pro687=) c.2051C= (p.Pro684=) c.1970C= (p.Pro657=) c.1919C= (p.Pro640=) | |
14 | g.33800208C>G | CA389413036 | NPAS3 | c.1901C>G (p.Pro634Arg) c.1910C>G (p.Pro637Arg) c.1801C>G c.793+2627C>G c.1805C>G (p.Pro602Arg) c.1862C>G (p.Pro621Arg) c.1811C>G (p.Pro604Arg) c.1916C>G (p.Pro639Arg) c.1823C>G (p.Pro608Arg) c.1922C>G (p.Pro641Arg) c.1952C>G (p.Pro651Arg) c.1943C>G (p.Pro648Arg) c.1913C>G (p.Pro638Arg) c.1856C>G (p.Pro619Arg) c.1802C>G (p.Pro601Arg) c.1595C>G (p.Pro532Arg) c.2009C>G (p.Pro670Arg) c.2003C>G (p.Pro668Arg) c.2000C>G (p.Pro667Arg) c.2060C>G (p.Pro687Arg) c.2051C>G (p.Pro684Arg) c.1970C>G (p.Pro657Arg) c.1919C>G (p.Pro640Arg) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800208C>T | CA389413038 | NPAS3 | c.1901C>T (p.Pro634Leu) c.1910C>T (p.Pro637Leu) c.1801C>T c.793+2627C>T c.1805C>T (p.Pro602Leu) c.1862C>T (p.Pro621Leu) c.1811C>T (p.Pro604Leu) c.1916C>T (p.Pro639Leu) c.1823C>T (p.Pro608Leu) c.1922C>T (p.Pro641Leu) c.1952C>T (p.Pro651Leu) c.1943C>T (p.Pro648Leu) c.1913C>T (p.Pro638Leu) c.1856C>T (p.Pro619Leu) c.1802C>T (p.Pro601Leu) c.1595C>T (p.Pro532Leu) c.2009C>T (p.Pro670Leu) c.2003C>T (p.Pro668Leu) c.2000C>T (p.Pro667Leu) c.2060C>T (p.Pro687Leu) c.2051C>T (p.Pro684Leu) c.1970C>T (p.Pro657Leu) c.1919C>T (p.Pro640Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800209G>A | CA7150905 | NPAS3 | c.1902G>A (p.Pro634=) c.1911G>A (p.Pro637=) c.1802G>A c.793+2628G>A c.1806G>A (p.Pro602=) c.1863G>A (p.Pro621=) c.1812G>A (p.Pro604=) c.1917G>A (p.Pro639=) c.1824G>A (p.Pro608=) c.1923G>A (p.Pro641=) c.1953G>A (p.Pro651=) c.1944G>A (p.Pro648=) c.1914G>A (p.Pro638=) c.1857G>A (p.Pro619=) c.1803G>A (p.Pro601=) c.1596G>A (p.Pro532=) c.2010G>A (p.Pro670=) c.2004G>A (p.Pro668=) c.2001G>A (p.Pro667=) c.2061G>A (p.Pro687=) c.2052G>A (p.Pro684=) c.1971G>A (p.Pro657=) c.1920G>A (p.Pro640=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800209G>C | CA486092910 | NPAS3 | c.1902G>C (p.Pro634=) c.1911G>C (p.Pro637=) c.1802G>C c.793+2628G>C c.1806G>C (p.Pro602=) c.1863G>C (p.Pro621=) c.1812G>C (p.Pro604=) c.1917G>C (p.Pro639=) c.1824G>C (p.Pro608=) c.1923G>C (p.Pro641=) c.1953G>C (p.Pro651=) c.1944G>C (p.Pro648=) c.1914G>C (p.Pro638=) c.1857G>C (p.Pro619=) c.1803G>C (p.Pro601=) c.1596G>C (p.Pro532=) c.2010G>C (p.Pro670=) c.2004G>C (p.Pro668=) c.2001G>C (p.Pro667=) c.2061G>C (p.Pro687=) c.2052G>C (p.Pro684=) c.1971G>C (p.Pro657=) c.1920G>C (p.Pro640=) | |
14 | g.33800209G= | CA2128327080 | NPAS3 | c.1902G= (p.Pro634=) c.1911G= (p.Pro637=) c.1802G= c.793+2628G= c.1806G= (p.Pro602=) c.1863G= (p.Pro621=) c.1812G= (p.Pro604=) c.1917G= (p.Pro639=) c.1824G= (p.Pro608=) c.1923G= (p.Pro641=) c.1953G= (p.Pro651=) c.1944G= (p.Pro648=) c.1914G= (p.Pro638=) c.1857G= (p.Pro619=) c.1803G= (p.Pro601=) c.1596G= (p.Pro532=) c.2010G= (p.Pro670=) c.2004G= (p.Pro668=) c.2001G= (p.Pro667=) c.2061G= (p.Pro687=) c.2052G= (p.Pro684=) c.1971G= (p.Pro657=) c.1920G= (p.Pro640=) | |
14 | g.33800209G>T | CA486092911 | NPAS3 | c.1902G>T (p.Pro634=) c.1911G>T (p.Pro637=) c.1802G>T c.793+2628G>T c.1806G>T (p.Pro602=) c.1863G>T (p.Pro621=) c.1812G>T (p.Pro604=) c.1917G>T (p.Pro639=) c.1824G>T (p.Pro608=) c.1923G>T (p.Pro641=) c.1953G>T (p.Pro651=) c.1944G>T (p.Pro648=) c.1914G>T (p.Pro638=) c.1857G>T (p.Pro619=) c.1803G>T (p.Pro601=) c.1596G>T (p.Pro532=) c.2010G>T (p.Pro670=) c.2004G>T (p.Pro668=) c.2001G>T (p.Pro667=) c.2061G>T (p.Pro687=) c.2052G>T (p.Pro684=) c.1971G>T (p.Pro657=) c.1920G>T (p.Pro640=) | |
14 | g.33800210C>A | CA486092912 | NPAS3 | c.1903C>A (p.Arg635=) c.1912C>A (p.Arg638=) c.1803C>A c.793+2629C>A c.1807C>A (p.Arg603=) c.1864C>A (p.Arg622=) c.1813C>A (p.Arg605=) c.1918C>A (p.Arg640=) c.1825C>A (p.Arg609=) c.1924C>A (p.Arg642=) c.1954C>A (p.Arg652=) c.1945C>A (p.Arg649=) c.1915C>A (p.Arg639=) c.1858C>A (p.Arg620=) c.1804C>A (p.Arg602=) c.1597C>A (p.Arg533=) c.2011C>A (p.Arg671=) c.2005C>A (p.Arg669=) c.2002C>A (p.Arg668=) c.2062C>A (p.Arg688=) c.2053C>A (p.Arg685=) c.1972C>A (p.Arg658=) c.1921C>A (p.Arg641=) | |
14 | g.33800210C>G | CA389413041 | NPAS3 | c.1903C>G (p.Arg635Gly) c.1912C>G (p.Arg638Gly) c.1803C>G c.793+2629C>G c.1807C>G (p.Arg603Gly) c.1864C>G (p.Arg622Gly) c.1813C>G (p.Arg605Gly) c.1918C>G (p.Arg640Gly) c.1825C>G (p.Arg609Gly) c.1924C>G (p.Arg642Gly) c.1954C>G (p.Arg652Gly) c.1945C>G (p.Arg649Gly) c.1915C>G (p.Arg639Gly) c.1858C>G (p.Arg620Gly) c.1804C>G (p.Arg602Gly) c.1597C>G (p.Arg533Gly) c.2011C>G (p.Arg671Gly) c.2005C>G (p.Arg669Gly) c.2002C>G (p.Arg668Gly) c.2062C>G (p.Arg688Gly) c.2053C>G (p.Arg685Gly) c.1972C>G (p.Arg658Gly) c.1921C>G (p.Arg641Gly) | |
14 | g.33800210C>T | CA389413042 | NPAS3 | c.1903C>T (p.Arg635Trp) c.1912C>T (p.Arg638Trp) c.1803C>T c.793+2629C>T c.1807C>T (p.Arg603Trp) c.1864C>T (p.Arg622Trp) c.1813C>T (p.Arg605Trp) c.1918C>T (p.Arg640Trp) c.1825C>T (p.Arg609Trp) c.1924C>T (p.Arg642Trp) c.1954C>T (p.Arg652Trp) c.1945C>T (p.Arg649Trp) c.1915C>T (p.Arg639Trp) c.1858C>T (p.Arg620Trp) c.1804C>T (p.Arg602Trp) c.1597C>T (p.Arg533Trp) c.2011C>T (p.Arg671Trp) c.2005C>T (p.Arg669Trp) c.2002C>T (p.Arg668Trp) c.2062C>T (p.Arg688Trp) c.2053C>T (p.Arg685Trp) c.1972C>T (p.Arg658Trp) c.1921C>T (p.Arg641Trp) | |
14 | g.33800211G>A | CA7150906 | NPAS3 | c.1904G>A (p.Arg635Gln) c.1913G>A (p.Arg638Gln) c.1804G>A c.793+2630G>A c.1808G>A (p.Arg603Gln) c.1865G>A (p.Arg622Gln) c.1814G>A (p.Arg605Gln) c.1919G>A (p.Arg640Gln) c.1826G>A (p.Arg609Gln) c.1925G>A (p.Arg642Gln) c.1955G>A (p.Arg652Gln) c.1946G>A (p.Arg649Gln) c.1916G>A (p.Arg639Gln) c.1859G>A (p.Arg620Gln) c.1805G>A (p.Arg602Gln) c.1598G>A (p.Arg533Gln) c.2012G>A (p.Arg671Gln) c.2006G>A (p.Arg669Gln) c.2003G>A (p.Arg668Gln) c.2063G>A (p.Arg688Gln) c.2054G>A (p.Arg685Gln) c.1973G>A (p.Arg658Gln) c.1922G>A (p.Arg641Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800211G>C | CA389413044 | NPAS3 | c.1904G>C (p.Arg635Pro) c.1913G>C (p.Arg638Pro) c.1804G>C c.793+2630G>C c.1808G>C (p.Arg603Pro) c.1865G>C (p.Arg622Pro) c.1814G>C (p.Arg605Pro) c.1919G>C (p.Arg640Pro) c.1826G>C (p.Arg609Pro) c.1925G>C (p.Arg642Pro) c.1955G>C (p.Arg652Pro) c.1946G>C (p.Arg649Pro) c.1916G>C (p.Arg639Pro) c.1859G>C (p.Arg620Pro) c.1805G>C (p.Arg602Pro) c.1598G>C (p.Arg533Pro) c.2012G>C (p.Arg671Pro) c.2006G>C (p.Arg669Pro) c.2003G>C (p.Arg668Pro) c.2063G>C (p.Arg688Pro) c.2054G>C (p.Arg685Pro) c.1973G>C (p.Arg658Pro) c.1922G>C (p.Arg641Pro) | |
14 | g.33800211G= | CA2128327083 | NPAS3 | c.1904G= (p.Arg635=) c.1913G= (p.Arg638=) c.1804G= c.793+2630G= c.1808G= (p.Arg603=) c.1865G= (p.Arg622=) c.1814G= (p.Arg605=) c.1919G= (p.Arg640=) c.1826G= (p.Arg609=) c.1925G= (p.Arg642=) c.1955G= (p.Arg652=) c.1946G= (p.Arg649=) c.1916G= (p.Arg639=) c.1859G= (p.Arg620=) c.1805G= (p.Arg602=) c.1598G= (p.Arg533=) c.2012G= (p.Arg671=) c.2006G= (p.Arg669=) c.2003G= (p.Arg668=) c.2063G= (p.Arg688=) c.2054G= (p.Arg685=) c.1973G= (p.Arg658=) c.1922G= (p.Arg641=) | |
14 | g.33800211G>T | CA389413045 | NPAS3 | c.1904G>T (p.Arg635Leu) c.1913G>T (p.Arg638Leu) c.1804G>T c.793+2630G>T c.1808G>T (p.Arg603Leu) c.1865G>T (p.Arg622Leu) c.1814G>T (p.Arg605Leu) c.1919G>T (p.Arg640Leu) c.1826G>T (p.Arg609Leu) c.1925G>T (p.Arg642Leu) c.1955G>T (p.Arg652Leu) c.1946G>T (p.Arg649Leu) c.1916G>T (p.Arg639Leu) c.1859G>T (p.Arg620Leu) c.1805G>T (p.Arg602Leu) c.1598G>T (p.Arg533Leu) c.2012G>T (p.Arg671Leu) c.2006G>T (p.Arg669Leu) c.2003G>T (p.Arg668Leu) c.2063G>T (p.Arg688Leu) c.2054G>T (p.Arg685Leu) c.1973G>T (p.Arg658Leu) c.1922G>T (p.Arg641Leu) | |
14 | g.33800212G>A | CA486092916 | NPAS3 | c.1905G>A (p.Arg635=) c.1914G>A (p.Arg638=) c.1805G>A c.793+2631G>A c.1809G>A (p.Arg603=) c.1866G>A (p.Arg622=) c.1815G>A (p.Arg605=) c.1920G>A (p.Arg640=) c.1827G>A (p.Arg609=) c.1926G>A (p.Arg642=) c.1956G>A (p.Arg652=) c.1947G>A (p.Arg649=) c.1917G>A (p.Arg639=) c.1860G>A (p.Arg620=) c.1806G>A (p.Arg602=) c.1599G>A (p.Arg533=) c.2013G>A (p.Arg671=) c.2007G>A (p.Arg669=) c.2004G>A (p.Arg668=) c.2064G>A (p.Arg688=) c.2055G>A (p.Arg685=) c.1974G>A (p.Arg658=) c.1923G>A (p.Arg641=) | |
14 | g.33800212G>C | CA486092914 | NPAS3 | c.1905G>C (p.Arg635=) c.1914G>C (p.Arg638=) c.1805G>C c.793+2631G>C c.1809G>C (p.Arg603=) c.1866G>C (p.Arg622=) c.1815G>C (p.Arg605=) c.1920G>C (p.Arg640=) c.1827G>C (p.Arg609=) c.1926G>C (p.Arg642=) c.1956G>C (p.Arg652=) c.1947G>C (p.Arg649=) c.1917G>C (p.Arg639=) c.1860G>C (p.Arg620=) c.1806G>C (p.Arg602=) c.1599G>C (p.Arg533=) c.2013G>C (p.Arg671=) c.2007G>C (p.Arg669=) c.2004G>C (p.Arg668=) c.2064G>C (p.Arg688=) c.2055G>C (p.Arg685=) c.1974G>C (p.Arg658=) c.1923G>C (p.Arg641=) | gnomAD v4 |
14 | g.33800212G>T | CA486092913 | NPAS3 | c.1905G>T (p.Arg635=) c.1914G>T (p.Arg638=) c.1805G>T c.793+2631G>T c.1809G>T (p.Arg603=) c.1866G>T (p.Arg622=) c.1815G>T (p.Arg605=) c.1920G>T (p.Arg640=) c.1827G>T (p.Arg609=) c.1926G>T (p.Arg642=) c.1956G>T (p.Arg652=) c.1947G>T (p.Arg649=) c.1917G>T (p.Arg639=) c.1860G>T (p.Arg620=) c.1806G>T (p.Arg602=) c.1599G>T (p.Arg533=) c.2013G>T (p.Arg671=) c.2007G>T (p.Arg669=) c.2004G>T (p.Arg668=) c.2064G>T (p.Arg688=) c.2055G>T (p.Arg685=) c.1974G>T (p.Arg658=) c.1923G>T (p.Arg641=) | |
14 | g.33800213C>A | CA389413046 | NPAS3 | c.1906C>A (p.Leu636Met) c.1915C>A (p.Leu639Met) c.1806C>A c.793+2632C>A c.1810C>A (p.Leu604Met) c.1867C>A (p.Leu623Met) c.1816C>A (p.Leu606Met) c.1921C>A (p.Leu641Met) c.1828C>A (p.Leu610Met) c.1927C>A (p.Leu643Met) c.1957C>A (p.Leu653Met) c.1948C>A (p.Leu650Met) c.1918C>A (p.Leu640Met) c.1861C>A (p.Leu621Met) c.1807C>A (p.Leu603Met) c.1600C>A (p.Leu534Met) c.2014C>A (p.Leu672Met) c.2008C>A (p.Leu670Met) c.2005C>A (p.Leu669Met) c.2065C>A (p.Leu689Met) c.2056C>A (p.Leu686Met) c.1975C>A (p.Leu659Met) c.1924C>A (p.Leu642Met) | |
14 | g.33800213C>G | CA389413048 | NPAS3 | c.1906C>G (p.Leu636Val) c.1915C>G (p.Leu639Val) c.1806C>G c.793+2632C>G c.1810C>G (p.Leu604Val) c.1867C>G (p.Leu623Val) c.1816C>G (p.Leu606Val) c.1921C>G (p.Leu641Val) c.1828C>G (p.Leu610Val) c.1927C>G (p.Leu643Val) c.1957C>G (p.Leu653Val) c.1948C>G (p.Leu650Val) c.1918C>G (p.Leu640Val) c.1861C>G (p.Leu621Val) c.1807C>G (p.Leu603Val) c.1600C>G (p.Leu534Val) c.2014C>G (p.Leu672Val) c.2008C>G (p.Leu670Val) c.2005C>G (p.Leu669Val) c.2065C>G (p.Leu689Val) c.2056C>G (p.Leu686Val) c.1975C>G (p.Leu659Val) c.1924C>G (p.Leu642Val) | |
14 | g.33800213C>T | CA486092919 | NPAS3 | c.1906C>T (p.Leu636=) c.1915C>T (p.Leu639=) c.1806C>T c.793+2632C>T c.1810C>T (p.Leu604=) c.1867C>T (p.Leu623=) c.1816C>T (p.Leu606=) c.1921C>T (p.Leu641=) c.1828C>T (p.Leu610=) c.1927C>T (p.Leu643=) c.1957C>T (p.Leu653=) c.1948C>T (p.Leu650=) c.1918C>T (p.Leu640=) c.1861C>T (p.Leu621=) c.1807C>T (p.Leu603=) c.1600C>T (p.Leu534=) c.2014C>T (p.Leu672=) c.2008C>T (p.Leu670=) c.2005C>T (p.Leu669=) c.2065C>T (p.Leu689=) c.2056C>T (p.Leu686=) c.1975C>T (p.Leu659=) c.1924C>T (p.Leu642=) | |
14 | g.33800214T>A | CA389413051 | NPAS3 | c.1907T>A (p.Leu636Gln) c.1916T>A (p.Leu639Gln) c.1807T>A c.793+2633T>A c.1811T>A (p.Leu604Gln) c.1868T>A (p.Leu623Gln) c.1817T>A (p.Leu606Gln) c.1922T>A (p.Leu641Gln) c.1829T>A (p.Leu610Gln) c.1928T>A (p.Leu643Gln) c.1958T>A (p.Leu653Gln) c.1949T>A (p.Leu650Gln) c.1919T>A (p.Leu640Gln) c.1862T>A (p.Leu621Gln) c.1808T>A (p.Leu603Gln) c.1601T>A (p.Leu534Gln) c.2015T>A (p.Leu672Gln) c.2009T>A (p.Leu670Gln) c.2006T>A (p.Leu669Gln) c.2066T>A (p.Leu689Gln) c.2057T>A (p.Leu686Gln) c.1976T>A (p.Leu659Gln) c.1925T>A (p.Leu642Gln) | |
14 | g.33800214T>C | CA389413053 | NPAS3 | c.1907T>C (p.Leu636Pro) c.1916T>C (p.Leu639Pro) c.1807T>C c.793+2633T>C c.1811T>C (p.Leu604Pro) c.1868T>C (p.Leu623Pro) c.1817T>C (p.Leu606Pro) c.1922T>C (p.Leu641Pro) c.1829T>C (p.Leu610Pro) c.1928T>C (p.Leu643Pro) c.1958T>C (p.Leu653Pro) c.1949T>C (p.Leu650Pro) c.1919T>C (p.Leu640Pro) c.1862T>C (p.Leu621Pro) c.1808T>C (p.Leu603Pro) c.1601T>C (p.Leu534Pro) c.2015T>C (p.Leu672Pro) c.2009T>C (p.Leu670Pro) c.2006T>C (p.Leu669Pro) c.2066T>C (p.Leu689Pro) c.2057T>C (p.Leu686Pro) c.1976T>C (p.Leu659Pro) c.1925T>C (p.Leu642Pro) | gnomAD v4 |
14 | g.33800214T>G | CA389413054 | NPAS3 | c.1907T>G (p.Leu636Arg) c.1916T>G (p.Leu639Arg) c.1807T>G c.793+2633T>G c.1811T>G (p.Leu604Arg) c.1868T>G (p.Leu623Arg) c.1817T>G (p.Leu606Arg) c.1922T>G (p.Leu641Arg) c.1829T>G (p.Leu610Arg) c.1928T>G (p.Leu643Arg) c.1958T>G (p.Leu653Arg) c.1949T>G (p.Leu650Arg) c.1919T>G (p.Leu640Arg) c.1862T>G (p.Leu621Arg) c.1808T>G (p.Leu603Arg) c.1601T>G (p.Leu534Arg) c.2015T>G (p.Leu672Arg) c.2009T>G (p.Leu670Arg) c.2006T>G (p.Leu669Arg) c.2066T>G (p.Leu689Arg) c.2057T>G (p.Leu686Arg) c.1976T>G (p.Leu659Arg) c.1925T>G (p.Leu642Arg) | |
14 | g.33800215G>A | CA7150907 | NPAS3 | c.1908G>A (p.Leu636=) c.1917G>A (p.Leu639=) c.1808G>A c.793+2634G>A c.1812G>A (p.Leu604=) c.1869G>A (p.Leu623=) c.1818G>A (p.Leu606=) c.1923G>A (p.Leu641=) c.1830G>A (p.Leu610=) c.1929G>A (p.Leu643=) c.1959G>A (p.Leu653=) c.1950G>A (p.Leu650=) c.1920G>A (p.Leu640=) c.1863G>A (p.Leu621=) c.1809G>A (p.Leu603=) c.1602G>A (p.Leu534=) c.2016G>A (p.Leu672=) c.2010G>A (p.Leu670=) c.2007G>A (p.Leu669=) c.2067G>A (p.Leu689=) c.2058G>A (p.Leu686=) c.1977G>A (p.Leu659=) c.1926G>A (p.Leu642=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800215G>C | CA486092920 | NPAS3 | c.1908G>C (p.Leu636=) c.1917G>C (p.Leu639=) c.1808G>C c.793+2634G>C c.1812G>C (p.Leu604=) c.1869G>C (p.Leu623=) c.1818G>C (p.Leu606=) c.1923G>C (p.Leu641=) c.1830G>C (p.Leu610=) c.1929G>C (p.Leu643=) c.1959G>C (p.Leu653=) c.1950G>C (p.Leu650=) c.1920G>C (p.Leu640=) c.1863G>C (p.Leu621=) c.1809G>C (p.Leu603=) c.1602G>C (p.Leu534=) c.2016G>C (p.Leu672=) c.2010G>C (p.Leu670=) c.2007G>C (p.Leu669=) c.2067G>C (p.Leu689=) c.2058G>C (p.Leu686=) c.1977G>C (p.Leu659=) c.1926G>C (p.Leu642=) | |
14 | g.33800215G= | CA2128327085 | NPAS3 | c.1908G= (p.Leu636=) c.1917G= (p.Leu639=) c.1808G= c.793+2634G= c.1812G= (p.Leu604=) c.1869G= (p.Leu623=) c.1818G= (p.Leu606=) c.1923G= (p.Leu641=) c.1830G= (p.Leu610=) c.1929G= (p.Leu643=) c.1959G= (p.Leu653=) c.1950G= (p.Leu650=) c.1920G= (p.Leu640=) c.1863G= (p.Leu621=) c.1809G= (p.Leu603=) c.1602G= (p.Leu534=) c.2016G= (p.Leu672=) c.2010G= (p.Leu670=) c.2007G= (p.Leu669=) c.2067G= (p.Leu689=) c.2058G= (p.Leu686=) c.1977G= (p.Leu659=) c.1926G= (p.Leu642=) | |
14 | g.33800215G>T | CA486092922 | NPAS3 | c.1908G>T (p.Leu636=) c.1917G>T (p.Leu639=) c.1808G>T c.793+2634G>T c.1812G>T (p.Leu604=) c.1869G>T (p.Leu623=) c.1818G>T (p.Leu606=) c.1923G>T (p.Leu641=) c.1830G>T (p.Leu610=) c.1929G>T (p.Leu643=) c.1959G>T (p.Leu653=) c.1950G>T (p.Leu650=) c.1920G>T (p.Leu640=) c.1863G>T (p.Leu621=) c.1809G>T (p.Leu603=) c.1602G>T (p.Leu534=) c.2016G>T (p.Leu672=) c.2010G>T (p.Leu670=) c.2007G>T (p.Leu669=) c.2067G>T (p.Leu689=) c.2058G>T (p.Leu686=) c.1977G>T (p.Leu659=) c.1926G>T (p.Leu642=) | |
14 | g.33800216C>A | CA389413057 | NPAS3 | c.1909C>A (p.Leu637Met) c.1918C>A (p.Leu640Met) c.1809C>A c.793+2635C>A c.1813C>A (p.Leu605Met) c.1870C>A (p.Leu624Met) c.1819C>A (p.Leu607Met) c.1924C>A (p.Leu642Met) c.1831C>A (p.Leu611Met) c.1930C>A (p.Leu644Met) c.1960C>A (p.Leu654Met) c.1951C>A (p.Leu651Met) c.1921C>A (p.Leu641Met) c.1864C>A (p.Leu622Met) c.1810C>A (p.Leu604Met) c.1603C>A (p.Leu535Met) c.2017C>A (p.Leu673Met) c.2011C>A (p.Leu671Met) c.2008C>A (p.Leu670Met) c.2068C>A (p.Leu690Met) c.2059C>A (p.Leu687Met) c.1978C>A (p.Leu660Met) c.1927C>A (p.Leu643Met) | |
14 | g.33800216C>G | CA389413059 | NPAS3 | c.1909C>G (p.Leu637Val) c.1918C>G (p.Leu640Val) c.1809C>G c.793+2635C>G c.1813C>G (p.Leu605Val) c.1870C>G (p.Leu624Val) c.1819C>G (p.Leu607Val) c.1924C>G (p.Leu642Val) c.1831C>G (p.Leu611Val) c.1930C>G (p.Leu644Val) c.1960C>G (p.Leu654Val) c.1951C>G (p.Leu651Val) c.1921C>G (p.Leu641Val) c.1864C>G (p.Leu622Val) c.1810C>G (p.Leu604Val) c.1603C>G (p.Leu535Val) c.2017C>G (p.Leu673Val) c.2011C>G (p.Leu671Val) c.2008C>G (p.Leu670Val) c.2068C>G (p.Leu690Val) c.2059C>G (p.Leu687Val) c.1978C>G (p.Leu660Val) c.1927C>G (p.Leu643Val) | |
14 | g.33800216C>T | CA486092925 | NPAS3 | c.1909C>T (p.Leu637=) c.1918C>T (p.Leu640=) c.1809C>T c.793+2635C>T c.1813C>T (p.Leu605=) c.1870C>T (p.Leu624=) c.1819C>T (p.Leu607=) c.1924C>T (p.Leu642=) c.1831C>T (p.Leu611=) c.1930C>T (p.Leu644=) c.1960C>T (p.Leu654=) c.1951C>T (p.Leu651=) c.1921C>T (p.Leu641=) c.1864C>T (p.Leu622=) c.1810C>T (p.Leu604=) c.1603C>T (p.Leu535=) c.2017C>T (p.Leu673=) c.2011C>T (p.Leu671=) c.2008C>T (p.Leu670=) c.2068C>T (p.Leu690=) c.2059C>T (p.Leu687=) c.1978C>T (p.Leu660=) c.1927C>T (p.Leu643=) | |
14 | g.33800217T>A | CA389413064 | NPAS3 | c.1910T>A (p.Leu637Gln) c.1919T>A (p.Leu640Gln) c.1810T>A c.793+2636T>A c.1814T>A (p.Leu605Gln) c.1871T>A (p.Leu624Gln) c.1820T>A (p.Leu607Gln) c.1925T>A (p.Leu642Gln) c.1832T>A (p.Leu611Gln) c.1931T>A (p.Leu644Gln) c.1961T>A (p.Leu654Gln) c.1952T>A (p.Leu651Gln) c.1922T>A (p.Leu641Gln) c.1865T>A (p.Leu622Gln) c.1811T>A (p.Leu604Gln) c.1604T>A (p.Leu535Gln) c.2018T>A (p.Leu673Gln) c.2012T>A (p.Leu671Gln) c.2009T>A (p.Leu670Gln) c.2069T>A (p.Leu690Gln) c.2060T>A (p.Leu687Gln) c.1979T>A (p.Leu660Gln) c.1928T>A (p.Leu643Gln) | gnomAD v4 |
14 | g.33800217T>C | CA389413066 | NPAS3 | c.1910T>C (p.Leu637Pro) c.1919T>C (p.Leu640Pro) c.1810T>C c.793+2636T>C c.1814T>C (p.Leu605Pro) c.1871T>C (p.Leu624Pro) c.1820T>C (p.Leu607Pro) c.1925T>C (p.Leu642Pro) c.1832T>C (p.Leu611Pro) c.1931T>C (p.Leu644Pro) c.1961T>C (p.Leu654Pro) c.1952T>C (p.Leu651Pro) c.1922T>C (p.Leu641Pro) c.1865T>C (p.Leu622Pro) c.1811T>C (p.Leu604Pro) c.1604T>C (p.Leu535Pro) c.2018T>C (p.Leu673Pro) c.2012T>C (p.Leu671Pro) c.2009T>C (p.Leu670Pro) c.2069T>C (p.Leu690Pro) c.2060T>C (p.Leu687Pro) c.1979T>C (p.Leu660Pro) c.1928T>C (p.Leu643Pro) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800217T>G | CA389413063 | NPAS3 | c.1910T>G (p.Leu637Arg) c.1919T>G (p.Leu640Arg) c.1810T>G c.793+2636T>G c.1814T>G (p.Leu605Arg) c.1871T>G (p.Leu624Arg) c.1820T>G (p.Leu607Arg) c.1925T>G (p.Leu642Arg) c.1832T>G (p.Leu611Arg) c.1931T>G (p.Leu644Arg) c.1961T>G (p.Leu654Arg) c.1952T>G (p.Leu651Arg) c.1922T>G (p.Leu641Arg) c.1865T>G (p.Leu622Arg) c.1811T>G (p.Leu604Arg) c.1604T>G (p.Leu535Arg) c.2018T>G (p.Leu673Arg) c.2012T>G (p.Leu671Arg) c.2009T>G (p.Leu670Arg) c.2069T>G (p.Leu690Arg) c.2060T>G (p.Leu687Arg) c.1979T>G (p.Leu660Arg) c.1928T>G (p.Leu643Arg) | |
14 | g.33800217T= | CA2128327091 | NPAS3 | c.1910T= (p.Leu637=) c.1919T= (p.Leu640=) c.1810T= c.793+2636T= c.1814T= (p.Leu605=) c.1871T= (p.Leu624=) c.1820T= (p.Leu607=) c.1925T= (p.Leu642=) c.1832T= (p.Leu611=) c.1931T= (p.Leu644=) c.1961T= (p.Leu654=) c.1952T= (p.Leu651=) c.1922T= (p.Leu641=) c.1865T= (p.Leu622=) c.1811T= (p.Leu604=) c.1604T= (p.Leu535=) c.2018T= (p.Leu673=) c.2012T= (p.Leu671=) c.2009T= (p.Leu670=) c.2069T= (p.Leu690=) c.2060T= (p.Leu687=) c.1979T= (p.Leu660=) c.1928T= (p.Leu643=) | |
14 | g.33800218G>A | CA486092926 | NPAS3 | c.1911G>A (p.Leu637=) c.1920G>A (p.Leu640=) c.1811G>A c.793+2637G>A c.1815G>A (p.Leu605=) c.1872G>A (p.Leu624=) c.1821G>A (p.Leu607=) c.1926G>A (p.Leu642=) c.1833G>A (p.Leu611=) c.1932G>A (p.Leu644=) c.1962G>A (p.Leu654=) c.1953G>A (p.Leu651=) c.1923G>A (p.Leu641=) c.1866G>A (p.Leu622=) c.1812G>A (p.Leu604=) c.1605G>A (p.Leu535=) c.2019G>A (p.Leu673=) c.2013G>A (p.Leu671=) c.2010G>A (p.Leu670=) c.2070G>A (p.Leu690=) c.2061G>A (p.Leu687=) c.1980G>A (p.Leu660=) c.1929G>A (p.Leu643=) | |
14 | g.33800218G>C | CA486092927 | NPAS3 | c.1911G>C (p.Leu637=) c.1920G>C (p.Leu640=) c.1811G>C c.793+2637G>C c.1815G>C (p.Leu605=) c.1872G>C (p.Leu624=) c.1821G>C (p.Leu607=) c.1926G>C (p.Leu642=) c.1833G>C (p.Leu611=) c.1932G>C (p.Leu644=) c.1962G>C (p.Leu654=) c.1953G>C (p.Leu651=) c.1923G>C (p.Leu641=) c.1866G>C (p.Leu622=) c.1812G>C (p.Leu604=) c.1605G>C (p.Leu535=) c.2019G>C (p.Leu673=) c.2013G>C (p.Leu671=) c.2010G>C (p.Leu670=) c.2070G>C (p.Leu690=) c.2061G>C (p.Leu687=) c.1980G>C (p.Leu660=) c.1929G>C (p.Leu643=) | gnomAD v4 |
14 | g.33800218G>T | CA486092929 | NPAS3 | c.1911G>T (p.Leu637=) c.1920G>T (p.Leu640=) c.1811G>T c.793+2637G>T c.1815G>T (p.Leu605=) c.1872G>T (p.Leu624=) c.1821G>T (p.Leu607=) c.1926G>T (p.Leu642=) c.1833G>T (p.Leu611=) c.1932G>T (p.Leu644=) c.1962G>T (p.Leu654=) c.1953G>T (p.Leu651=) c.1923G>T (p.Leu641=) c.1866G>T (p.Leu622=) c.1812G>T (p.Leu604=) c.1605G>T (p.Leu535=) c.2019G>T (p.Leu673=) c.2013G>T (p.Leu671=) c.2010G>T (p.Leu670=) c.2070G>T (p.Leu690=) c.2061G>T (p.Leu687=) c.1980G>T (p.Leu660=) c.1929G>T (p.Leu643=) | |
14 | g.33800219T>A | CA389413068 | NPAS3 | c.1912T>A (p.Ser638Thr) c.1921T>A (p.Ser641Thr) c.1812T>A c.793+2638T>A c.1816T>A (p.Ser606Thr) c.1873T>A (p.Ser625Thr) c.1822T>A (p.Ser608Thr) c.1927T>A (p.Ser643Thr) c.1834T>A (p.Ser612Thr) c.1933T>A (p.Ser645Thr) c.1963T>A (p.Ser655Thr) c.1954T>A (p.Ser652Thr) c.1924T>A (p.Ser642Thr) c.1867T>A (p.Ser623Thr) c.1813T>A (p.Ser605Thr) c.1606T>A (p.Ser536Thr) c.2020T>A (p.Ser674Thr) c.2014T>A (p.Ser672Thr) c.2011T>A (p.Ser671Thr) c.2071T>A (p.Ser691Thr) c.2062T>A (p.Ser688Thr) c.1981T>A (p.Ser661Thr) c.1930T>A (p.Ser644Thr) | |
14 | g.33800219T>C | CA389413070 | NPAS3 | c.1912T>C (p.Ser638Pro) c.1921T>C (p.Ser641Pro) c.1812T>C c.793+2638T>C c.1816T>C (p.Ser606Pro) c.1873T>C (p.Ser625Pro) c.1822T>C (p.Ser608Pro) c.1927T>C (p.Ser643Pro) c.1834T>C (p.Ser612Pro) c.1933T>C (p.Ser645Pro) c.1963T>C (p.Ser655Pro) c.1954T>C (p.Ser652Pro) c.1924T>C (p.Ser642Pro) c.1867T>C (p.Ser623Pro) c.1813T>C (p.Ser605Pro) c.1606T>C (p.Ser536Pro) c.2020T>C (p.Ser674Pro) c.2014T>C (p.Ser672Pro) c.2011T>C (p.Ser671Pro) c.2071T>C (p.Ser691Pro) c.2062T>C (p.Ser688Pro) c.1981T>C (p.Ser661Pro) c.1930T>C (p.Ser644Pro) | |
14 | g.33800219T>G | CA389413072 | NPAS3 | c.1912T>G (p.Ser638Ala) c.1921T>G (p.Ser641Ala) c.1812T>G c.793+2638T>G c.1816T>G (p.Ser606Ala) c.1873T>G (p.Ser625Ala) c.1822T>G (p.Ser608Ala) c.1927T>G (p.Ser643Ala) c.1834T>G (p.Ser612Ala) c.1933T>G (p.Ser645Ala) c.1963T>G (p.Ser655Ala) c.1954T>G (p.Ser652Ala) c.1924T>G (p.Ser642Ala) c.1867T>G (p.Ser623Ala) c.1813T>G (p.Ser605Ala) c.1606T>G (p.Ser536Ala) c.2020T>G (p.Ser674Ala) c.2014T>G (p.Ser672Ala) c.2011T>G (p.Ser671Ala) c.2071T>G (p.Ser691Ala) c.2062T>G (p.Ser688Ala) c.1981T>G (p.Ser661Ala) c.1930T>G (p.Ser644Ala) | |
14 | g.33800220C>A | CA7150908 | NPAS3 | c.1913C>A (p.Ser638Tyr) c.1922C>A (p.Ser641Tyr) c.1813C>A c.793+2639C>A c.1817C>A (p.Ser606Tyr) c.1874C>A (p.Ser625Tyr) c.1823C>A (p.Ser608Tyr) c.1928C>A (p.Ser643Tyr) c.1835C>A (p.Ser612Tyr) c.1934C>A (p.Ser645Tyr) c.1964C>A (p.Ser655Tyr) c.1955C>A (p.Ser652Tyr) c.1925C>A (p.Ser642Tyr) c.1868C>A (p.Ser623Tyr) c.1814C>A (p.Ser605Tyr) c.1607C>A (p.Ser536Tyr) c.2021C>A (p.Ser674Tyr) c.2015C>A (p.Ser672Tyr) c.2012C>A (p.Ser671Tyr) c.2072C>A (p.Ser691Tyr) c.2063C>A (p.Ser688Tyr) c.1982C>A (p.Ser661Tyr) c.1931C>A (p.Ser644Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800220C= | CA2128327096 | NPAS3 | c.1913C= (p.Ser638=) c.1922C= (p.Ser641=) c.1813C= c.793+2639C= c.1817C= (p.Ser606=) c.1874C= (p.Ser625=) c.1823C= (p.Ser608=) c.1928C= (p.Ser643=) c.1835C= (p.Ser612=) c.1934C= (p.Ser645=) c.1964C= (p.Ser655=) c.1955C= (p.Ser652=) c.1925C= (p.Ser642=) c.1868C= (p.Ser623=) c.1814C= (p.Ser605=) c.1607C= (p.Ser536=) c.2021C= (p.Ser674=) c.2015C= (p.Ser672=) c.2012C= (p.Ser671=) c.2072C= (p.Ser691=) c.2063C= (p.Ser688=) c.1982C= (p.Ser661=) c.1931C= (p.Ser644=) | |
14 | g.33800220C>G | CA389413073 | NPAS3 | c.1913C>G (p.Ser638Cys) c.1922C>G (p.Ser641Cys) c.1813C>G c.793+2639C>G c.1817C>G (p.Ser606Cys) c.1874C>G (p.Ser625Cys) c.1823C>G (p.Ser608Cys) c.1928C>G (p.Ser643Cys) c.1835C>G (p.Ser612Cys) c.1934C>G (p.Ser645Cys) c.1964C>G (p.Ser655Cys) c.1955C>G (p.Ser652Cys) c.1925C>G (p.Ser642Cys) c.1868C>G (p.Ser623Cys) c.1814C>G (p.Ser605Cys) c.1607C>G (p.Ser536Cys) c.2021C>G (p.Ser674Cys) c.2015C>G (p.Ser672Cys) c.2012C>G (p.Ser671Cys) c.2072C>G (p.Ser691Cys) c.2063C>G (p.Ser688Cys) c.1982C>G (p.Ser661Cys) c.1931C>G (p.Ser644Cys) | |
14 | g.33800220C>T | CA389413075 | NPAS3 | c.1913C>T (p.Ser638Phe) c.1922C>T (p.Ser641Phe) c.1813C>T c.793+2639C>T c.1817C>T (p.Ser606Phe) c.1874C>T (p.Ser625Phe) c.1823C>T (p.Ser608Phe) c.1928C>T (p.Ser643Phe) c.1835C>T (p.Ser612Phe) c.1934C>T (p.Ser645Phe) c.1964C>T (p.Ser655Phe) c.1955C>T (p.Ser652Phe) c.1925C>T (p.Ser642Phe) c.1868C>T (p.Ser623Phe) c.1814C>T (p.Ser605Phe) c.1607C>T (p.Ser536Phe) c.2021C>T (p.Ser674Phe) c.2015C>T (p.Ser672Phe) c.2012C>T (p.Ser671Phe) c.2072C>T (p.Ser691Phe) c.2063C>T (p.Ser688Phe) c.1982C>T (p.Ser661Phe) c.1931C>T (p.Ser644Phe) | |
14 | g.33800221C>A | CA486092932 | NPAS3 | c.1914C>A (p.Ser638=) c.1923C>A (p.Ser641=) c.1814C>A c.793+2640C>A c.1818C>A (p.Ser606=) c.1875C>A (p.Ser625=) c.1824C>A (p.Ser608=) c.1929C>A (p.Ser643=) c.1836C>A (p.Ser612=) c.1935C>A (p.Ser645=) c.1965C>A (p.Ser655=) c.1956C>A (p.Ser652=) c.1926C>A (p.Ser642=) c.1869C>A (p.Ser623=) c.1815C>A (p.Ser605=) c.1608C>A (p.Ser536=) c.2022C>A (p.Ser674=) c.2016C>A (p.Ser672=) c.2013C>A (p.Ser671=) c.2073C>A (p.Ser691=) c.2064C>A (p.Ser688=) c.1983C>A (p.Ser661=) c.1932C>A (p.Ser644=) | |
14 | g.33800221C= | CA2128327099 | NPAS3 | c.1914C= (p.Ser638=) c.1923C= (p.Ser641=) c.1814C= c.793+2640C= c.1818C= (p.Ser606=) c.1875C= (p.Ser625=) c.1824C= (p.Ser608=) c.1929C= (p.Ser643=) c.1836C= (p.Ser612=) c.1935C= (p.Ser645=) c.1965C= (p.Ser655=) c.1956C= (p.Ser652=) c.1926C= (p.Ser642=) c.1869C= (p.Ser623=) c.1815C= (p.Ser605=) c.1608C= (p.Ser536=) c.2022C= (p.Ser674=) c.2016C= (p.Ser672=) c.2013C= (p.Ser671=) c.2073C= (p.Ser691=) c.2064C= (p.Ser688=) c.1983C= (p.Ser661=) c.1932C= (p.Ser644=) | |
14 | g.33800221C>G | CA486092933 | NPAS3 | c.1914C>G (p.Ser638=) c.1923C>G (p.Ser641=) c.1814C>G c.793+2640C>G c.1818C>G (p.Ser606=) c.1875C>G (p.Ser625=) c.1824C>G (p.Ser608=) c.1929C>G (p.Ser643=) c.1836C>G (p.Ser612=) c.1935C>G (p.Ser645=) c.1965C>G (p.Ser655=) c.1956C>G (p.Ser652=) c.1926C>G (p.Ser642=) c.1869C>G (p.Ser623=) c.1815C>G (p.Ser605=) c.1608C>G (p.Ser536=) c.2022C>G (p.Ser674=) c.2016C>G (p.Ser672=) c.2013C>G (p.Ser671=) c.2073C>G (p.Ser691=) c.2064C>G (p.Ser688=) c.1983C>G (p.Ser661=) c.1932C>G (p.Ser644=) | |
14 | g.33800221C>T | CA258718907 | NPAS3 | c.1914C>T (p.Ser638=) c.1923C>T (p.Ser641=) c.1814C>T c.793+2640C>T c.1818C>T (p.Ser606=) c.1875C>T (p.Ser625=) c.1824C>T (p.Ser608=) c.1929C>T (p.Ser643=) c.1836C>T (p.Ser612=) c.1935C>T (p.Ser645=) c.1965C>T (p.Ser655=) c.1956C>T (p.Ser652=) c.1926C>T (p.Ser642=) c.1869C>T (p.Ser623=) c.1815C>T (p.Ser605=) c.1608C>T (p.Ser536=) c.2022C>T (p.Ser674=) c.2016C>T (p.Ser672=) c.2013C>T (p.Ser671=) c.2073C>T (p.Ser691=) c.2064C>T (p.Ser688=) c.1983C>T (p.Ser661=) c.1932C>T (p.Ser644=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800222T>A | CA389413078 | NPAS3 | c.1915T>A (p.Ser639Thr) c.1924T>A (p.Ser642Thr) c.1815T>A c.793+2641T>A c.1819T>A (p.Ser607Thr) c.1876T>A (p.Ser626Thr) c.1825T>A (p.Ser609Thr) c.1930T>A (p.Ser644Thr) c.1837T>A (p.Ser613Thr) c.1936T>A (p.Ser646Thr) c.1966T>A (p.Ser656Thr) c.1957T>A (p.Ser653Thr) c.1927T>A (p.Ser643Thr) c.1870T>A (p.Ser624Thr) c.1816T>A (p.Ser606Thr) c.1609T>A (p.Ser537Thr) c.2023T>A (p.Ser675Thr) c.2017T>A (p.Ser673Thr) c.2014T>A (p.Ser672Thr) c.2074T>A (p.Ser692Thr) c.2065T>A (p.Ser689Thr) c.1984T>A (p.Ser662Thr) c.1933T>A (p.Ser645Thr) | dbSNP gnomAD v2 |
14 | g.33800222T>C | CA389413079 | NPAS3 | c.1915T>C (p.Ser639Pro) c.1924T>C (p.Ser642Pro) c.1815T>C c.793+2641T>C c.1819T>C (p.Ser607Pro) c.1876T>C (p.Ser626Pro) c.1825T>C (p.Ser609Pro) c.1930T>C (p.Ser644Pro) c.1837T>C (p.Ser613Pro) c.1936T>C (p.Ser646Pro) c.1966T>C (p.Ser656Pro) c.1957T>C (p.Ser653Pro) c.1927T>C (p.Ser643Pro) c.1870T>C (p.Ser624Pro) c.1816T>C (p.Ser606Pro) c.1609T>C (p.Ser537Pro) c.2023T>C (p.Ser675Pro) c.2017T>C (p.Ser673Pro) c.2014T>C (p.Ser672Pro) c.2074T>C (p.Ser692Pro) c.2065T>C (p.Ser689Pro) c.1984T>C (p.Ser662Pro) c.1933T>C (p.Ser645Pro) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800222T>G | CA389413082 | NPAS3 | c.1915T>G (p.Ser639Ala) c.1924T>G (p.Ser642Ala) c.1815T>G c.793+2641T>G c.1819T>G (p.Ser607Ala) c.1876T>G (p.Ser626Ala) c.1825T>G (p.Ser609Ala) c.1930T>G (p.Ser644Ala) c.1837T>G (p.Ser613Ala) c.1936T>G (p.Ser646Ala) c.1966T>G (p.Ser656Ala) c.1957T>G (p.Ser653Ala) c.1927T>G (p.Ser643Ala) c.1870T>G (p.Ser624Ala) c.1816T>G (p.Ser606Ala) c.1609T>G (p.Ser537Ala) c.2023T>G (p.Ser675Ala) c.2017T>G (p.Ser673Ala) c.2014T>G (p.Ser672Ala) c.2074T>G (p.Ser692Ala) c.2065T>G (p.Ser689Ala) c.1984T>G (p.Ser662Ala) c.1933T>G (p.Ser645Ala) | |
14 | g.33800222T= | CA2128327104 | NPAS3 | c.1915T= (p.Ser639=) c.1924T= (p.Ser642=) c.1815T= c.793+2641T= c.1819T= (p.Ser607=) c.1876T= (p.Ser626=) c.1825T= (p.Ser609=) c.1930T= (p.Ser644=) c.1837T= (p.Ser613=) c.1936T= (p.Ser646=) c.1966T= (p.Ser656=) c.1957T= (p.Ser653=) c.1927T= (p.Ser643=) c.1870T= (p.Ser624=) c.1816T= (p.Ser606=) c.1609T= (p.Ser537=) c.2023T= (p.Ser675=) c.2017T= (p.Ser673=) c.2014T= (p.Ser672=) c.2074T= (p.Ser692=) c.2065T= (p.Ser689=) c.1984T= (p.Ser662=) c.1933T= (p.Ser645=) | |
14 | g.33800223C>A | CA389413084 | NPAS3 | c.1916C>A (p.Ser639Tyr) c.1925C>A (p.Ser642Tyr) c.1816C>A c.793+2642C>A c.1820C>A (p.Ser607Tyr) c.1877C>A (p.Ser626Tyr) c.1826C>A (p.Ser609Tyr) c.1931C>A (p.Ser644Tyr) c.1838C>A (p.Ser613Tyr) c.1937C>A (p.Ser646Tyr) c.1967C>A (p.Ser656Tyr) c.1958C>A (p.Ser653Tyr) c.1928C>A (p.Ser643Tyr) c.1871C>A (p.Ser624Tyr) c.1817C>A (p.Ser606Tyr) c.1610C>A (p.Ser537Tyr) c.2024C>A (p.Ser675Tyr) c.2018C>A (p.Ser673Tyr) c.2015C>A (p.Ser672Tyr) c.2075C>A (p.Ser692Tyr) c.2066C>A (p.Ser689Tyr) c.1985C>A (p.Ser662Tyr) c.1934C>A (p.Ser645Tyr) | dbSNP gnomAD v4 |
14 | g.33800223C= | CA2128327110 | NPAS3 | c.1916C= (p.Ser639=) c.1925C= (p.Ser642=) c.1816C= c.793+2642C= c.1820C= (p.Ser607=) c.1877C= (p.Ser626=) c.1826C= (p.Ser609=) c.1931C= (p.Ser644=) c.1838C= (p.Ser613=) c.1937C= (p.Ser646=) c.1967C= (p.Ser656=) c.1958C= (p.Ser653=) c.1928C= (p.Ser643=) c.1871C= (p.Ser624=) c.1817C= (p.Ser606=) c.1610C= (p.Ser537=) c.2024C= (p.Ser675=) c.2018C= (p.Ser673=) c.2015C= (p.Ser672=) c.2075C= (p.Ser692=) c.2066C= (p.Ser689=) c.1985C= (p.Ser662=) c.1934C= (p.Ser645=) | |
14 | g.33800223C>G | CA389413086 | NPAS3 | c.1916C>G (p.Ser639Cys) c.1925C>G (p.Ser642Cys) c.1816C>G c.793+2642C>G c.1820C>G (p.Ser607Cys) c.1877C>G (p.Ser626Cys) c.1826C>G (p.Ser609Cys) c.1931C>G (p.Ser644Cys) c.1838C>G (p.Ser613Cys) c.1937C>G (p.Ser646Cys) c.1967C>G (p.Ser656Cys) c.1958C>G (p.Ser653Cys) c.1928C>G (p.Ser643Cys) c.1871C>G (p.Ser624Cys) c.1817C>G (p.Ser606Cys) c.1610C>G (p.Ser537Cys) c.2024C>G (p.Ser675Cys) c.2018C>G (p.Ser673Cys) c.2015C>G (p.Ser672Cys) c.2075C>G (p.Ser692Cys) c.2066C>G (p.Ser689Cys) c.1985C>G (p.Ser662Cys) c.1934C>G (p.Ser645Cys) | |
14 | g.33800223C>T | CA389413088 | NPAS3 | c.1916C>T (p.Ser639Phe) c.1925C>T (p.Ser642Phe) c.1816C>T c.793+2642C>T c.1820C>T (p.Ser607Phe) c.1877C>T (p.Ser626Phe) c.1826C>T (p.Ser609Phe) c.1931C>T (p.Ser644Phe) c.1838C>T (p.Ser613Phe) c.1937C>T (p.Ser646Phe) c.1967C>T (p.Ser656Phe) c.1958C>T (p.Ser653Phe) c.1928C>T (p.Ser643Phe) c.1871C>T (p.Ser624Phe) c.1817C>T (p.Ser606Phe) c.1610C>T (p.Ser537Phe) c.2024C>T (p.Ser675Phe) c.2018C>T (p.Ser673Phe) c.2015C>T (p.Ser672Phe) c.2075C>T (p.Ser692Phe) c.2066C>T (p.Ser689Phe) c.1985C>T (p.Ser662Phe) c.1934C>T (p.Ser645Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800224C>A | CA486092936 | NPAS3 | c.1917C>A (p.Ser639=) c.1926C>A (p.Ser642=) c.1817C>A c.793+2643C>A c.1821C>A (p.Ser607=) c.1878C>A (p.Ser626=) c.1827C>A (p.Ser609=) c.1932C>A (p.Ser644=) c.1839C>A (p.Ser613=) c.1938C>A (p.Ser646=) c.1968C>A (p.Ser656=) c.1959C>A (p.Ser653=) c.1929C>A (p.Ser643=) c.1872C>A (p.Ser624=) c.1818C>A (p.Ser606=) c.1611C>A (p.Ser537=) c.2025C>A (p.Ser675=) c.2019C>A (p.Ser673=) c.2016C>A (p.Ser672=) c.2076C>A (p.Ser692=) c.2067C>A (p.Ser689=) c.1986C>A (p.Ser662=) c.1935C>A (p.Ser645=) | dbSNP gnomAD v2 |
14 | g.33800224C= | CA2128327115 | NPAS3 | c.1917C= (p.Ser639=) c.1926C= (p.Ser642=) c.1817C= c.793+2643C= c.1821C= (p.Ser607=) c.1878C= (p.Ser626=) c.1827C= (p.Ser609=) c.1932C= (p.Ser644=) c.1839C= (p.Ser613=) c.1938C= (p.Ser646=) c.1968C= (p.Ser656=) c.1959C= (p.Ser653=) c.1929C= (p.Ser643=) c.1872C= (p.Ser624=) c.1818C= (p.Ser606=) c.1611C= (p.Ser537=) c.2025C= (p.Ser675=) c.2019C= (p.Ser673=) c.2016C= (p.Ser672=) c.2076C= (p.Ser692=) c.2067C= (p.Ser689=) c.1986C= (p.Ser662=) c.1935C= (p.Ser645=) | |
14 | g.33800224C>G | CA486092937 | NPAS3 | c.1917C>G (p.Ser639=) c.1926C>G (p.Ser642=) c.1817C>G c.793+2643C>G c.1821C>G (p.Ser607=) c.1878C>G (p.Ser626=) c.1827C>G (p.Ser609=) c.1932C>G (p.Ser644=) c.1839C>G (p.Ser613=) c.1938C>G (p.Ser646=) c.1968C>G (p.Ser656=) c.1959C>G (p.Ser653=) c.1929C>G (p.Ser643=) c.1872C>G (p.Ser624=) c.1818C>G (p.Ser606=) c.1611C>G (p.Ser537=) c.2025C>G (p.Ser675=) c.2019C>G (p.Ser673=) c.2016C>G (p.Ser672=) c.2076C>G (p.Ser692=) c.2067C>G (p.Ser689=) c.1986C>G (p.Ser662=) c.1935C>G (p.Ser645=) | |
14 | g.33800224C>T | CA486092938 | NPAS3 | c.1917C>T (p.Ser639=) c.1926C>T (p.Ser642=) c.1817C>T c.793+2643C>T c.1821C>T (p.Ser607=) c.1878C>T (p.Ser626=) c.1827C>T (p.Ser609=) c.1932C>T (p.Ser644=) c.1839C>T (p.Ser613=) c.1938C>T (p.Ser646=) c.1968C>T (p.Ser656=) c.1959C>T (p.Ser653=) c.1929C>T (p.Ser643=) c.1872C>T (p.Ser624=) c.1818C>T (p.Ser606=) c.1611C>T (p.Ser537=) c.2025C>T (p.Ser675=) c.2019C>T (p.Ser673=) c.2016C>T (p.Ser672=) c.2076C>T (p.Ser692=) c.2067C>T (p.Ser689=) c.1986C>T (p.Ser662=) c.1935C>T (p.Ser645=) | |
14 | g.33800225C>A | CA389413092 | NPAS3 | c.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) | |
14 | g.33800225C>G | CA389413093 | NPAS3 | c.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) | |
14 | g.33800225C>T | CA389413090 | NPAS3 | c.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 |
14 | g.33800226C>A | CA389413094 | NPAS3 | c.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) | |
14 | g.33800226C= | CA2128327119 | NPAS3 | c.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=) | |
14 | g.33800226C>G | CA258718913 | NPAS3 | c.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 |
14 | g.33800226C>T | CA7150909 | NPAS3 | c.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 |
14 | g.33800227C>A | CA486092940 | NPAS3 | c.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=) | |
14 | g.33800227C= | CA2128327122 | NPAS3 | c.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=) | |
14 | g.33800227C>G | CA486092941 | NPAS3 | c.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=) | |
14 | g.33800227C>T | CA7150910 | NPAS3 | c.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 |
14 | g.33800228A= | CA2128327125 | NPAS3 | c.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=) | |
14 | g.33800228A>C | CA389413100 | NPAS3 | c.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) | |
14 | g.33800228A>G | CA389413101 | NPAS3 | c.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 |
14 | g.33800228A>T | CA389413104 | NPAS3 | c.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) | |
14 | g.33800229A= | CA2128327127 | NPAS3 | c.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=) | |
14 | g.33800229A>C | CA389413106 | NPAS3 | c.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) | |
14 | g.33800229A>G | CA7150911 | NPAS3 | c.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 |
14 | g.33800229A>T | CA389413108 | NPAS3 | c.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 |
14 | g.33800230C>A | CA389413111 | NPAS3 | c.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) | |
14 | g.33800230C>G | CA389413113 | NPAS3 | c.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 |
14 | g.33800230C>T | CA486092942 | NPAS3 | c.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=) | |
14 | g.33800231A>C | CA389413115 | NPAS3 | c.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) | |
14 | g.33800231A>G | CA389413117 | NPAS3 | c.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) | |
14 | g.33800231A>T | CA389413118 | NPAS3 | c.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) | |
14 | g.33800232G>A | CA389413123 | NPAS3 | c.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 |
14 | g.33800232G>C | CA389413122 | NPAS3 | c.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) | |
14 | g.33800232G>T | CA389413121 | NPAS3 | c.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) | |
14 | g.33800233T>A | CA389413128 | NPAS3 | c.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) | |
14 | g.33800233T>C | CA486092946 | NPAS3 | c.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 |
14 | g.33800233T>G | CA389413126 | NPAS3 | c.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) | |
14 | g.33800233T= | CA2128327130 | NPAS3 | c.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=) | |
14 | g.33800234G>A | CA389413136 | NPAS3 | c.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) | |
14 | g.33800234G>C | CA389413129 | NPAS3 | c.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) | |
14 | g.33800234G>T | CA389413134 | NPAS3 | c.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) | |
14 | g.33800235C>A | CA389413138 | NPAS3 | c.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 |
14 | g.33800235C>G | CA389413140 | NPAS3 | c.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) | |
14 | g.33800235C>T | CA389413142 | NPAS3 | c.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 |
14 | g.33800236C>A | CA486092948 | NPAS3 | c.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 |
14 | g.33800236C= | CA2128327134 | NPAS3 | c.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=) | |
14 | g.33800236C>G | CA486092949 | NPAS3 | c.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 |
14 | g.33800236C>T | CA486092950 | NPAS3 | c.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 |
14 | g.33800237T>A | CA389413145 | NPAS3 | c.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) | |
14 | g.33800237T>C | CA389413147 | NPAS3 | c.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) | |
14 | g.33800237T>G | CA389413149 | NPAS3 | c.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) | |
14 | g.33800238C>A | CA389413152 | NPAS3 | c.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) | |
14 | g.33800238C= | CA2128327139 | NPAS3 | c.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=) | |
14 | g.33800238C>G | CA389413154 | NPAS3 | c.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) | |
14 | g.33800238C>T | CA7150912 | NPAS3 | c.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 |
14 | g.33800238_33800239delinsCG | CA2128327140 | NPAS3 | c.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=) | |
14 | g.33800239G>A | CA7150913 | NPAS3 | c.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 |
14 | g.33800239G>C | CA486092952 | NPAS3 | c.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 |
14 | g.33800239G= | CA2128327144 | NPAS3 | c.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=) | |
14 | g.33800239G>T | CA486092951 | NPAS3 | c.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=) | |
14 | g.33800240del | CA961818357 | NPAS3 | c.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 |
14 | g.33800240G>A | CA7150914 | NPAS3 | c.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 |
14 | g.33800240G>C | CA389413159 | NPAS3 | c.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) | |
14 | g.33800240G= | CA2128327146 | NPAS3 | c.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=) | |
14 | g.33800240G>T | CA389413161 | NPAS3 | c.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) | |
14 | g.33800241T>A | CA389413164 | NPAS3 | c.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) | |
14 | g.33800241T>C | CA389413169 | NPAS3 | c.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) | |
14 | g.33800241T>G | CA389413168 | NPAS3 | c.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) | |
14 | g.33800242G>A | CA486092956 | NPAS3 | c.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=) | |
14 | g.33800242G>C | CA486092957 | NPAS3 | c.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 |
14 | g.33800242G>T | CA486092958 | NPAS3 | c.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=) | |
14 | g.33800243C>A | CA389413173 | NPAS3 | c.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) | |
14 | g.33800243C= | CA2128327149 | NPAS3 | c.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=) | |
14 | g.33800243C>G | CA389413174 | NPAS3 | c.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) | |
14 | g.33800243C>T | CA389413176 | NPAS3 | c.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 |
14 | g.33800244T>A | CA389413178 | NPAS3 | c.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) | |
14 | g.33800244T>C | CA389413180 | NPAS3 | c.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) | |
14 | g.33800244T>G | CA389413181 | NPAS3 | c.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) | |
14 | g.33800245C>A | CA486092959 | NPAS3 | c.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=) | |
14 | g.33800245C= | CA2128327151 | NPAS3 | c.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=) | |
14 | g.33800245C>G | CA486092960 | NPAS3 | c.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=) | |
14 | g.33800245C>T | CA486092962 | NPAS3 | c.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 |
14 | g.33800246A>C | CA389413182 | NPAS3 | c.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) | |
14 | g.33800246A>G | CA389413183 | NPAS3 | c.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 |
14 | g.33800246A>T | CA389413184 | NPAS3 | c.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) | |
14 | g.33800247A= | CA2128327153 | NPAS3 | c.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=) | |
14 | g.33800247A>C | CA389413187 | NPAS3 | c.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) | |
14 | g.33800247A>G | CA389413189 | NPAS3 | c.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 |
14 | g.33800247A>T | CA389413190 | NPAS3 | c.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) | |
14 | g.33800248G>A | CA7150915 | NPAS3 | c.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 |
14 | g.33800248G>C | CA389413195 | NPAS3 | c.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) | |
14 | g.33800248G= | CA2128327155 | NPAS3 | c.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=) | |
14 | g.33800248G>T | CA389413193 | NPAS3 | c.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) | |
14 | g.33800249A>C | CA389413197 | NPAS3 | c.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) | |
14 | g.33800249A>G | CA389413199 | NPAS3 | c.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) | |
14 | g.33800249A>T | CA389413200 | NPAS3 | c.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 |
14 | g.33800250T>A | CA389413202 | NPAS3 | c.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) | |
14 | g.33800250T>C | CA389413204 | NPAS3 | c.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) | |
14 | g.33800250T>G | CA389413205 | NPAS3 | c.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) | |
14 | g.33800251C>A | CA486092967 | NPAS3 | c.1944C>A (p.Ile648=) c.1953C>A (p.Ile651=) c.1844C>A c.793+2670C>A c.1848C>A (p.Ile616=) c.1905C>A (p.Ile635=) c.1854C>A (p.Ile618=) c.1959C>A (p.Ile653=) c.1866C>A (p.Ile622=) c.1965C>A (p.Ile655=) c.1995C>A (p.Ile665=) c.1986C>A (p.Ile662=) c.1956C>A (p.Ile652=) c.1899C>A (p.Ile633=) c.1845C>A (p.Ile615=) c.1638C>A (p.Ile546=) c.2052C>A (p.Ile684=) c.2046C>A (p.Ile682=) c.2043C>A (p.Ile681=) c.2103C>A (p.Ile701=) c.2094C>A (p.Ile698=) c.2013C>A (p.Ile671=) c.1962C>A (p.Ile654=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800251C= | CA2128327159 | NPAS3 | c.1944C= (p.Ile648=) c.1953C= (p.Ile651=) c.1844C= c.793+2670C= c.1848C= (p.Ile616=) c.1905C= (p.Ile635=) c.1854C= (p.Ile618=) c.1959C= (p.Ile653=) c.1866C= (p.Ile622=) c.1965C= (p.Ile655=) c.1995C= (p.Ile665=) c.1986C= (p.Ile662=) c.1956C= (p.Ile652=) c.1899C= (p.Ile633=) c.1845C= (p.Ile615=) c.1638C= (p.Ile546=) c.2052C= (p.Ile684=) c.2046C= (p.Ile682=) c.2043C= (p.Ile681=) c.2103C= (p.Ile701=) c.2094C= (p.Ile698=) c.2013C= (p.Ile671=) c.1962C= (p.Ile654=) | |
14 | g.33800251C>G | CA389413207 | NPAS3 | c.1944C>G (p.Ile648Met) c.1953C>G (p.Ile651Met) c.1844C>G c.793+2670C>G c.1848C>G (p.Ile616Met) c.1905C>G (p.Ile635Met) c.1854C>G (p.Ile618Met) c.1959C>G (p.Ile653Met) c.1866C>G (p.Ile622Met) c.1965C>G (p.Ile655Met) c.1995C>G (p.Ile665Met) c.1986C>G (p.Ile662Met) c.1956C>G (p.Ile652Met) c.1899C>G (p.Ile633Met) c.1845C>G (p.Ile615Met) c.1638C>G (p.Ile546Met) c.2052C>G (p.Ile684Met) c.2046C>G (p.Ile682Met) c.2043C>G (p.Ile681Met) c.2103C>G (p.Ile701Met) c.2094C>G (p.Ile698Met) c.2013C>G (p.Ile671Met) c.1962C>G (p.Ile654Met) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800251C>T | CA486092969 | NPAS3 | c.1944C>T (p.Ile648=) c.1953C>T (p.Ile651=) c.1844C>T c.793+2670C>T c.1848C>T (p.Ile616=) c.1905C>T (p.Ile635=) c.1854C>T (p.Ile618=) c.1959C>T (p.Ile653=) c.1866C>T (p.Ile622=) c.1965C>T (p.Ile655=) c.1995C>T (p.Ile665=) c.1986C>T (p.Ile662=) c.1956C>T (p.Ile652=) c.1899C>T (p.Ile633=) c.1845C>T (p.Ile615=) c.1638C>T (p.Ile546=) c.2052C>T (p.Ile684=) c.2046C>T (p.Ile682=) c.2043C>T (p.Ile681=) c.2103C>T (p.Ile701=) c.2094C>T (p.Ile698=) c.2013C>T (p.Ile671=) c.1962C>T (p.Ile654=) | |
14 | g.33800252A>C | CA389413210 | NPAS3 | c.1945A>C (p.Lys649Gln) c.1954A>C (p.Lys652Gln) c.1845A>C c.793+2671A>C c.1849A>C (p.Lys617Gln) c.1906A>C (p.Lys636Gln) c.1855A>C (p.Lys619Gln) c.1960A>C (p.Lys654Gln) c.1867A>C (p.Lys623Gln) c.1966A>C (p.Lys656Gln) c.1996A>C (p.Lys666Gln) c.1987A>C (p.Lys663Gln) c.1957A>C (p.Lys653Gln) c.1900A>C (p.Lys634Gln) c.1846A>C (p.Lys616Gln) c.1639A>C (p.Lys547Gln) c.2053A>C (p.Lys685Gln) c.2047A>C (p.Lys683Gln) c.2044A>C (p.Lys682Gln) c.2104A>C (p.Lys702Gln) c.2095A>C (p.Lys699Gln) c.2014A>C (p.Lys672Gln) c.1963A>C (p.Lys655Gln) | |
14 | g.33800252A>G | CA389413212 | NPAS3 | c.1945A>G (p.Lys649Glu) c.1954A>G (p.Lys652Glu) c.1845A>G c.793+2671A>G c.1849A>G (p.Lys617Glu) c.1906A>G (p.Lys636Glu) c.1855A>G (p.Lys619Glu) c.1960A>G (p.Lys654Glu) c.1867A>G (p.Lys623Glu) c.1966A>G (p.Lys656Glu) c.1996A>G (p.Lys666Glu) c.1987A>G (p.Lys663Glu) c.1957A>G (p.Lys653Glu) c.1900A>G (p.Lys634Glu) c.1846A>G (p.Lys616Glu) c.1639A>G (p.Lys547Glu) c.2053A>G (p.Lys685Glu) c.2047A>G (p.Lys683Glu) c.2044A>G (p.Lys682Glu) c.2104A>G (p.Lys702Glu) c.2095A>G (p.Lys699Glu) c.2014A>G (p.Lys672Glu) c.1963A>G (p.Lys655Glu) | |
14 | g.33800252A>T | CA389413213 | NPAS3 | c.1945A>T (p.Lys649Ter) c.1954A>T (p.Lys652Ter) c.1845A>T c.793+2671A>T c.1849A>T (p.Lys617Ter) c.1906A>T (p.Lys636Ter) c.1855A>T (p.Lys619Ter) c.1960A>T (p.Lys654Ter) c.1867A>T (p.Lys623Ter) c.1966A>T (p.Lys656Ter) c.1996A>T (p.Lys666Ter) c.1987A>T (p.Lys663Ter) c.1957A>T (p.Lys653Ter) c.1900A>T (p.Lys634Ter) c.1846A>T (p.Lys616Ter) c.1639A>T (p.Lys547Ter) c.2053A>T (p.Lys685Ter) c.2047A>T (p.Lys683Ter) c.2044A>T (p.Lys682Ter) c.2104A>T (p.Lys702Ter) c.2095A>T (p.Lys699Ter) c.2014A>T (p.Lys672Ter) c.1963A>T (p.Lys655Ter) | |
14 | g.33800253A>C | CA389413215 | NPAS3 | c.1946A>C (p.Lys649Thr) c.1955A>C (p.Lys652Thr) c.1846A>C c.793+2672A>C c.1850A>C (p.Lys617Thr) c.1907A>C (p.Lys636Thr) c.1856A>C (p.Lys619Thr) c.1961A>C (p.Lys654Thr) c.1868A>C (p.Lys623Thr) c.1967A>C (p.Lys656Thr) c.1997A>C (p.Lys666Thr) c.1988A>C (p.Lys663Thr) c.1958A>C (p.Lys653Thr) c.1901A>C (p.Lys634Thr) c.1847A>C (p.Lys616Thr) c.1640A>C (p.Lys547Thr) c.2054A>C (p.Lys685Thr) c.2048A>C (p.Lys683Thr) c.2045A>C (p.Lys682Thr) c.2105A>C (p.Lys702Thr) c.2096A>C (p.Lys699Thr) c.2015A>C (p.Lys672Thr) c.1964A>C (p.Lys655Thr) | |
14 | g.33800253A>G | CA389413216 | NPAS3 | c.1946A>G (p.Lys649Arg) c.1955A>G (p.Lys652Arg) c.1846A>G c.793+2672A>G c.1850A>G (p.Lys617Arg) c.1907A>G (p.Lys636Arg) c.1856A>G (p.Lys619Arg) c.1961A>G (p.Lys654Arg) c.1868A>G (p.Lys623Arg) c.1967A>G (p.Lys656Arg) c.1997A>G (p.Lys666Arg) c.1988A>G (p.Lys663Arg) c.1958A>G (p.Lys653Arg) c.1901A>G (p.Lys634Arg) c.1847A>G (p.Lys616Arg) c.1640A>G (p.Lys547Arg) c.2054A>G (p.Lys685Arg) c.2048A>G (p.Lys683Arg) c.2045A>G (p.Lys682Arg) c.2105A>G (p.Lys702Arg) c.2096A>G (p.Lys699Arg) c.2015A>G (p.Lys672Arg) c.1964A>G (p.Lys655Arg) | |
14 | g.33800253A>T | CA389413217 | NPAS3 | c.1946A>T (p.Lys649Met) c.1955A>T (p.Lys652Met) c.1846A>T c.793+2672A>T c.1850A>T (p.Lys617Met) c.1907A>T (p.Lys636Met) c.1856A>T (p.Lys619Met) c.1961A>T (p.Lys654Met) c.1868A>T (p.Lys623Met) c.1967A>T (p.Lys656Met) c.1997A>T (p.Lys666Met) c.1988A>T (p.Lys663Met) c.1958A>T (p.Lys653Met) c.1901A>T (p.Lys634Met) c.1847A>T (p.Lys616Met) c.1640A>T (p.Lys547Met) c.2054A>T (p.Lys685Met) c.2048A>T (p.Lys683Met) c.2045A>T (p.Lys682Met) c.2105A>T (p.Lys702Met) c.2096A>T (p.Lys699Met) c.2015A>T (p.Lys672Met) c.1964A>T (p.Lys655Met) | |
14 | g.33800254G>A | CA486092971 | NPAS3 | c.1947G>A (p.Lys649=) c.1956G>A (p.Lys652=) c.1847G>A c.793+2673G>A c.1851G>A (p.Lys617=) c.1908G>A (p.Lys636=) c.1857G>A (p.Lys619=) c.1962G>A (p.Lys654=) c.1869G>A (p.Lys623=) c.1968G>A (p.Lys656=) c.1998G>A (p.Lys666=) c.1989G>A (p.Lys663=) c.1959G>A (p.Lys653=) c.1902G>A (p.Lys634=) c.1848G>A (p.Lys616=) c.1641G>A (p.Lys547=) c.2055G>A (p.Lys685=) c.2049G>A (p.Lys683=) c.2046G>A (p.Lys682=) c.2106G>A (p.Lys702=) c.2097G>A (p.Lys699=) c.2016G>A (p.Lys672=) c.1965G>A (p.Lys655=) | dbSNP gnomAD v4 |
14 | g.33800254G>C | CA389413219 | NPAS3 | c.1947G>C (p.Lys649Asn) c.1956G>C (p.Lys652Asn) c.1847G>C c.793+2673G>C c.1851G>C (p.Lys617Asn) c.1908G>C (p.Lys636Asn) c.1857G>C (p.Lys619Asn) c.1962G>C (p.Lys654Asn) c.1869G>C (p.Lys623Asn) c.1968G>C (p.Lys656Asn) c.1998G>C (p.Lys666Asn) c.1989G>C (p.Lys663Asn) c.1959G>C (p.Lys653Asn) c.1902G>C (p.Lys634Asn) c.1848G>C (p.Lys616Asn) c.1641G>C (p.Lys547Asn) c.2055G>C (p.Lys685Asn) c.2049G>C (p.Lys683Asn) c.2046G>C (p.Lys682Asn) c.2106G>C (p.Lys702Asn) c.2097G>C (p.Lys699Asn) c.2016G>C (p.Lys672Asn) c.1965G>C (p.Lys655Asn) | |
14 | g.33800254G= | CA2128327163 | NPAS3 | c.1947G= (p.Lys649=) c.1956G= (p.Lys652=) c.1847G= c.793+2673G= c.1851G= (p.Lys617=) c.1908G= (p.Lys636=) c.1857G= (p.Lys619=) c.1962G= (p.Lys654=) c.1869G= (p.Lys623=) c.1968G= (p.Lys656=) c.1998G= (p.Lys666=) c.1989G= (p.Lys663=) c.1959G= (p.Lys653=) c.1902G= (p.Lys634=) c.1848G= (p.Lys616=) c.1641G= (p.Lys547=) c.2055G= (p.Lys685=) c.2049G= (p.Lys683=) c.2046G= (p.Lys682=) c.2106G= (p.Lys702=) c.2097G= (p.Lys699=) c.2016G= (p.Lys672=) c.1965G= (p.Lys655=) | |
14 | g.33800254G>T | CA389413218 | NPAS3 | c.1947G>T (p.Lys649Asn) c.1956G>T (p.Lys652Asn) c.1847G>T c.793+2673G>T c.1851G>T (p.Lys617Asn) c.1908G>T (p.Lys636Asn) c.1857G>T (p.Lys619Asn) c.1962G>T (p.Lys654Asn) c.1869G>T (p.Lys623Asn) c.1968G>T (p.Lys656Asn) c.1998G>T (p.Lys666Asn) c.1989G>T (p.Lys663Asn) c.1959G>T (p.Lys653Asn) c.1902G>T (p.Lys634Asn) c.1848G>T (p.Lys616Asn) c.1641G>T (p.Lys547Asn) c.2055G>T (p.Lys685Asn) c.2049G>T (p.Lys683Asn) c.2046G>T (p.Lys682Asn) c.2106G>T (p.Lys702Asn) c.2097G>T (p.Lys699Asn) c.2016G>T (p.Lys672Asn) c.1965G>T (p.Lys655Asn) | |
14 | g.33800255A= | CA2128327166 | NPAS3 | c.1948A= (p.Thr650=) c.1957A= (p.Thr653=) c.1848A= c.793+2674A= c.1852A= (p.Thr618=) c.1909A= (p.Thr637=) c.1858A= (p.Thr620=) c.1963A= (p.Thr655=) c.1870A= (p.Thr624=) c.1969A= (p.Thr657=) c.1999A= (p.Thr667=) c.1990A= (p.Thr664=) c.1960A= (p.Thr654=) c.1903A= (p.Thr635=) c.1849A= (p.Thr617=) c.1642A= (p.Thr548=) c.2056A= (p.Thr686=) c.2050A= (p.Thr684=) c.2047A= (p.Thr683=) c.2107A= (p.Thr703=) c.2098A= (p.Thr700=) c.2017A= (p.Thr673=) c.1966A= (p.Thr656=) | |
14 | g.33800255A>C | CA389413220 | NPAS3 | c.1948A>C (p.Thr650Pro) c.1957A>C (p.Thr653Pro) c.1848A>C c.793+2674A>C c.1852A>C (p.Thr618Pro) c.1909A>C (p.Thr637Pro) c.1858A>C (p.Thr620Pro) c.1963A>C (p.Thr655Pro) c.1870A>C (p.Thr624Pro) c.1969A>C (p.Thr657Pro) c.1999A>C (p.Thr667Pro) c.1990A>C (p.Thr664Pro) c.1960A>C (p.Thr654Pro) c.1903A>C (p.Thr635Pro) c.1849A>C (p.Thr617Pro) c.1642A>C (p.Thr548Pro) c.2056A>C (p.Thr686Pro) c.2050A>C (p.Thr684Pro) c.2047A>C (p.Thr683Pro) c.2107A>C (p.Thr703Pro) c.2098A>C (p.Thr700Pro) c.2017A>C (p.Thr673Pro) c.1966A>C (p.Thr656Pro) | |
14 | g.33800255A>G | CA7150916 | NPAS3 | c.1948A>G (p.Thr650Ala) c.1957A>G (p.Thr653Ala) c.1848A>G c.793+2674A>G c.1852A>G (p.Thr618Ala) c.1909A>G (p.Thr637Ala) c.1858A>G (p.Thr620Ala) c.1963A>G (p.Thr655Ala) c.1870A>G (p.Thr624Ala) c.1969A>G (p.Thr657Ala) c.1999A>G (p.Thr667Ala) c.1990A>G (p.Thr664Ala) c.1960A>G (p.Thr654Ala) c.1903A>G (p.Thr635Ala) c.1849A>G (p.Thr617Ala) c.1642A>G (p.Thr548Ala) c.2056A>G (p.Thr686Ala) c.2050A>G (p.Thr684Ala) c.2047A>G (p.Thr683Ala) c.2107A>G (p.Thr703Ala) c.2098A>G (p.Thr700Ala) c.2017A>G (p.Thr673Ala) c.1966A>G (p.Thr656Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800255A>T | CA389413221 | NPAS3 | c.1948A>T (p.Thr650Ser) c.1957A>T (p.Thr653Ser) c.1848A>T c.793+2674A>T c.1852A>T (p.Thr618Ser) c.1909A>T (p.Thr637Ser) c.1858A>T (p.Thr620Ser) c.1963A>T (p.Thr655Ser) c.1870A>T (p.Thr624Ser) c.1969A>T (p.Thr657Ser) c.1999A>T (p.Thr667Ser) c.1990A>T (p.Thr664Ser) c.1960A>T (p.Thr654Ser) c.1903A>T (p.Thr635Ser) c.1849A>T (p.Thr617Ser) c.1642A>T (p.Thr548Ser) c.2056A>T (p.Thr686Ser) c.2050A>T (p.Thr684Ser) c.2047A>T (p.Thr683Ser) c.2107A>T (p.Thr703Ser) c.2098A>T (p.Thr700Ser) c.2017A>T (p.Thr673Ser) c.1966A>T (p.Thr656Ser) | |
14 | g.33800256C>A | CA389413223 | NPAS3 | c.1949C>A (p.Thr650Lys) c.1958C>A (p.Thr653Lys) c.1849C>A c.793+2675C>A c.1853C>A (p.Thr618Lys) c.1910C>A (p.Thr637Lys) c.1859C>A (p.Thr620Lys) c.1964C>A (p.Thr655Lys) c.1871C>A (p.Thr624Lys) c.1970C>A (p.Thr657Lys) c.2000C>A (p.Thr667Lys) c.1991C>A (p.Thr664Lys) c.1961C>A (p.Thr654Lys) c.1904C>A (p.Thr635Lys) c.1850C>A (p.Thr617Lys) c.1643C>A (p.Thr548Lys) c.2057C>A (p.Thr686Lys) c.2051C>A (p.Thr684Lys) c.2048C>A (p.Thr683Lys) c.2108C>A (p.Thr703Lys) c.2099C>A (p.Thr700Lys) c.2018C>A (p.Thr673Lys) c.1967C>A (p.Thr656Lys) | |
14 | g.33800256C>G | CA389413225 | NPAS3 | c.1949C>G (p.Thr650Arg) c.1958C>G (p.Thr653Arg) c.1849C>G c.793+2675C>G c.1853C>G (p.Thr618Arg) c.1910C>G (p.Thr637Arg) c.1859C>G (p.Thr620Arg) c.1964C>G (p.Thr655Arg) c.1871C>G (p.Thr624Arg) c.1970C>G (p.Thr657Arg) c.2000C>G (p.Thr667Arg) c.1991C>G (p.Thr664Arg) c.1961C>G (p.Thr654Arg) c.1904C>G (p.Thr635Arg) c.1850C>G (p.Thr617Arg) c.1643C>G (p.Thr548Arg) c.2057C>G (p.Thr686Arg) c.2051C>G (p.Thr684Arg) c.2048C>G (p.Thr683Arg) c.2108C>G (p.Thr703Arg) c.2099C>G (p.Thr700Arg) c.2018C>G (p.Thr673Arg) c.1967C>G (p.Thr656Arg) | |
14 | g.33800256C>T | CA389413226 | NPAS3 | c.1949C>T (p.Thr650Met) c.1958C>T (p.Thr653Met) c.1849C>T c.793+2675C>T c.1853C>T (p.Thr618Met) c.1910C>T (p.Thr637Met) c.1859C>T (p.Thr620Met) c.1964C>T (p.Thr655Met) c.1871C>T (p.Thr624Met) c.1970C>T (p.Thr657Met) c.2000C>T (p.Thr667Met) c.1991C>T (p.Thr664Met) c.1961C>T (p.Thr654Met) c.1904C>T (p.Thr635Met) c.1850C>T (p.Thr617Met) c.1643C>T (p.Thr548Met) c.2057C>T (p.Thr686Met) c.2051C>T (p.Thr684Met) c.2048C>T (p.Thr683Met) c.2108C>T (p.Thr703Met) c.2099C>T (p.Thr700Met) c.2018C>T (p.Thr673Met) c.1967C>T (p.Thr656Met) | gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800257G>A | CA7150917 | NPAS3 | c.1950G>A (p.Thr650=) c.1959G>A (p.Thr653=) c.1850G>A c.793+2676G>A c.1854G>A (p.Thr618=) c.1911G>A (p.Thr637=) c.1860G>A (p.Thr620=) c.1965G>A (p.Thr655=) c.1872G>A (p.Thr624=) c.1971G>A (p.Thr657=) c.2001G>A (p.Thr667=) c.1992G>A (p.Thr664=) c.1962G>A (p.Thr654=) c.1905G>A (p.Thr635=) c.1851G>A (p.Thr617=) c.1644G>A (p.Thr548=) c.2058G>A (p.Thr686=) c.2052G>A (p.Thr684=) c.2049G>A (p.Thr683=) c.2109G>A (p.Thr703=) c.2100G>A (p.Thr700=) c.2019G>A (p.Thr673=) c.1968G>A (p.Thr656=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800257G>C | CA486092974 | NPAS3 | c.1950G>C (p.Thr650=) c.1959G>C (p.Thr653=) c.1850G>C c.793+2676G>C c.1854G>C (p.Thr618=) c.1911G>C (p.Thr637=) c.1860G>C (p.Thr620=) c.1965G>C (p.Thr655=) c.1872G>C (p.Thr624=) c.1971G>C (p.Thr657=) c.2001G>C (p.Thr667=) c.1992G>C (p.Thr664=) c.1962G>C (p.Thr654=) c.1905G>C (p.Thr635=) c.1851G>C (p.Thr617=) c.1644G>C (p.Thr548=) c.2058G>C (p.Thr686=) c.2052G>C (p.Thr684=) c.2049G>C (p.Thr683=) c.2109G>C (p.Thr703=) c.2100G>C (p.Thr700=) c.2019G>C (p.Thr673=) c.1968G>C (p.Thr656=) | |
14 | g.33800257G= | CA2128327170 | NPAS3 | c.1950G= (p.Thr650=) c.1959G= (p.Thr653=) c.1850G= c.793+2676G= c.1854G= (p.Thr618=) c.1911G= (p.Thr637=) c.1860G= (p.Thr620=) c.1965G= (p.Thr655=) c.1872G= (p.Thr624=) c.1971G= (p.Thr657=) c.2001G= (p.Thr667=) c.1992G= (p.Thr664=) c.1962G= (p.Thr654=) c.1905G= (p.Thr635=) c.1851G= (p.Thr617=) c.1644G= (p.Thr548=) c.2058G= (p.Thr686=) c.2052G= (p.Thr684=) c.2049G= (p.Thr683=) c.2109G= (p.Thr703=) c.2100G= (p.Thr700=) c.2019G= (p.Thr673=) c.1968G= (p.Thr656=) | |
14 | g.33800257G>T | CA486092975 | NPAS3 | c.1950G>T (p.Thr650=) c.1959G>T (p.Thr653=) c.1850G>T c.793+2676G>T c.1854G>T (p.Thr618=) c.1911G>T (p.Thr637=) c.1860G>T (p.Thr620=) c.1965G>T (p.Thr655=) c.1872G>T (p.Thr624=) c.1971G>T (p.Thr657=) c.2001G>T (p.Thr667=) c.1992G>T (p.Thr664=) c.1962G>T (p.Thr654=) c.1905G>T (p.Thr635=) c.1851G>T (p.Thr617=) c.1644G>T (p.Thr548=) c.2058G>T (p.Thr686=) c.2052G>T (p.Thr684=) c.2049G>T (p.Thr683=) c.2109G>T (p.Thr703=) c.2100G>T (p.Thr700=) c.2019G>T (p.Thr673=) c.1968G>T (p.Thr656=) | |
14 | g.33800258G>A | CA389413230 | NPAS3 | c.1951G>A (p.Glu651Lys) c.1960G>A (p.Glu654Lys) c.1851G>A c.793+2677G>A c.1855G>A (p.Glu619Lys) c.1912G>A (p.Glu638Lys) c.1861G>A (p.Glu621Lys) c.1966G>A (p.Glu656Lys) c.1873G>A (p.Glu625Lys) c.1972G>A (p.Glu658Lys) c.2002G>A (p.Glu668Lys) c.1993G>A (p.Glu665Lys) c.1963G>A (p.Glu655Lys) c.1906G>A (p.Glu636Lys) c.1852G>A (p.Glu618Lys) c.1645G>A (p.Glu549Lys) c.2059G>A (p.Glu687Lys) c.2053G>A (p.Glu685Lys) c.2050G>A (p.Glu684Lys) c.2110G>A (p.Glu704Lys) c.2101G>A (p.Glu701Lys) c.2020G>A (p.Glu674Lys) c.1969G>A (p.Glu657Lys) | gnomAD v4 |
14 | g.33800258G>C | CA389413231 | NPAS3 | c.1951G>C (p.Glu651Gln) c.1960G>C (p.Glu654Gln) c.1851G>C c.793+2677G>C c.1855G>C (p.Glu619Gln) c.1912G>C (p.Glu638Gln) c.1861G>C (p.Glu621Gln) c.1966G>C (p.Glu656Gln) c.1873G>C (p.Glu625Gln) c.1972G>C (p.Glu658Gln) c.2002G>C (p.Glu668Gln) c.1993G>C (p.Glu665Gln) c.1963G>C (p.Glu655Gln) c.1906G>C (p.Glu636Gln) c.1852G>C (p.Glu618Gln) c.1645G>C (p.Glu549Gln) c.2059G>C (p.Glu687Gln) c.2053G>C (p.Glu685Gln) c.2050G>C (p.Glu684Gln) c.2110G>C (p.Glu704Gln) c.2101G>C (p.Glu701Gln) c.2020G>C (p.Glu674Gln) c.1969G>C (p.Glu657Gln) | gnomAD v4 |
14 | g.33800258G>T | CA389413233 | NPAS3 | c.1951G>T (p.Glu651Ter) c.1960G>T (p.Glu654Ter) c.1851G>T c.793+2677G>T c.1855G>T (p.Glu619Ter) c.1912G>T (p.Glu638Ter) c.1861G>T (p.Glu621Ter) c.1966G>T (p.Glu656Ter) c.1873G>T (p.Glu625Ter) c.1972G>T (p.Glu658Ter) c.2002G>T (p.Glu668Ter) c.1993G>T (p.Glu665Ter) c.1963G>T (p.Glu655Ter) c.1906G>T (p.Glu636Ter) c.1852G>T (p.Glu618Ter) c.1645G>T (p.Glu549Ter) c.2059G>T (p.Glu687Ter) c.2053G>T (p.Glu685Ter) c.2050G>T (p.Glu684Ter) c.2110G>T (p.Glu704Ter) c.2101G>T (p.Glu701Ter) c.2020G>T (p.Glu674Ter) c.1969G>T (p.Glu657Ter) | |
14 | g.33800259A= | CA2128327173 | NPAS3 | c.1952A= (p.Glu651=) c.1961A= (p.Glu654=) c.1852A= c.793+2678A= c.1856A= (p.Glu619=) c.1913A= (p.Glu638=) c.1862A= (p.Glu621=) c.1967A= (p.Glu656=) c.1874A= (p.Glu625=) c.1973A= (p.Glu658=) c.2003A= (p.Glu668=) c.1994A= (p.Glu665=) c.1964A= (p.Glu655=) c.1907A= (p.Glu636=) c.1853A= (p.Glu618=) c.1646A= (p.Glu549=) c.2060A= (p.Glu687=) c.2054A= (p.Glu685=) c.2051A= (p.Glu684=) c.2111A= (p.Glu704=) c.2102A= (p.Glu701=) c.2021A= (p.Glu674=) c.1970A= (p.Glu657=) | |
14 | g.33800259A>C | CA389413234 | NPAS3 | c.1952A>C (p.Glu651Ala) c.1961A>C (p.Glu654Ala) c.1852A>C c.793+2678A>C c.1856A>C (p.Glu619Ala) c.1913A>C (p.Glu638Ala) c.1862A>C (p.Glu621Ala) c.1967A>C (p.Glu656Ala) c.1874A>C (p.Glu625Ala) c.1973A>C (p.Glu658Ala) c.2003A>C (p.Glu668Ala) c.1994A>C (p.Glu665Ala) c.1964A>C (p.Glu655Ala) c.1907A>C (p.Glu636Ala) c.1853A>C (p.Glu618Ala) c.1646A>C (p.Glu549Ala) c.2060A>C (p.Glu687Ala) c.2054A>C (p.Glu685Ala) c.2051A>C (p.Glu684Ala) c.2111A>C (p.Glu704Ala) c.2102A>C (p.Glu701Ala) c.2021A>C (p.Glu674Ala) c.1970A>C (p.Glu657Ala) | |
14 | g.33800259A>G | CA389413236 | NPAS3 | c.1952A>G (p.Glu651Gly) c.1961A>G (p.Glu654Gly) c.1852A>G c.793+2678A>G c.1856A>G (p.Glu619Gly) c.1913A>G (p.Glu638Gly) c.1862A>G (p.Glu621Gly) c.1967A>G (p.Glu656Gly) c.1874A>G (p.Glu625Gly) c.1973A>G (p.Glu658Gly) c.2003A>G (p.Glu668Gly) c.1994A>G (p.Glu665Gly) c.1964A>G (p.Glu655Gly) c.1907A>G (p.Glu636Gly) c.1853A>G (p.Glu618Gly) c.1646A>G (p.Glu549Gly) c.2060A>G (p.Glu687Gly) c.2054A>G (p.Glu685Gly) c.2051A>G (p.Glu684Gly) c.2111A>G (p.Glu704Gly) c.2102A>G (p.Glu701Gly) c.2021A>G (p.Glu674Gly) c.1970A>G (p.Glu657Gly) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800259A>T | CA389413237 | NPAS3 | c.1952A>T (p.Glu651Val) c.1961A>T (p.Glu654Val) c.1852A>T c.793+2678A>T c.1856A>T (p.Glu619Val) c.1913A>T (p.Glu638Val) c.1862A>T (p.Glu621Val) c.1967A>T (p.Glu656Val) c.1874A>T (p.Glu625Val) c.1973A>T (p.Glu658Val) c.2003A>T (p.Glu668Val) c.1994A>T (p.Glu665Val) c.1964A>T (p.Glu655Val) c.1907A>T (p.Glu636Val) c.1853A>T (p.Glu618Val) c.1646A>T (p.Glu549Val) c.2060A>T (p.Glu687Val) c.2054A>T (p.Glu685Val) c.2051A>T (p.Glu684Val) c.2111A>T (p.Glu704Val) c.2102A>T (p.Glu701Val) c.2021A>T (p.Glu674Val) c.1970A>T (p.Glu657Val) | |
14 | g.33800260G>A | CA486092978 | NPAS3 | c.1953G>A (p.Glu651=) c.1962G>A (p.Glu654=) c.1853G>A c.793+2679G>A c.1857G>A (p.Glu619=) c.1914G>A (p.Glu638=) c.1863G>A (p.Glu621=) c.1968G>A (p.Glu656=) c.1875G>A (p.Glu625=) c.1974G>A (p.Glu658=) c.2004G>A (p.Glu668=) c.1995G>A (p.Glu665=) c.1965G>A (p.Glu655=) c.1908G>A (p.Glu636=) c.1854G>A (p.Glu618=) c.1647G>A (p.Glu549=) c.2061G>A (p.Glu687=) c.2055G>A (p.Glu685=) c.2052G>A (p.Glu684=) c.2112G>A (p.Glu704=) c.2103G>A (p.Glu701=) c.2022G>A (p.Glu674=) c.1971G>A (p.Glu657=) | dbSNP gnomAD v4 |
14 | g.33800260G>C | CA389413239 | NPAS3 | c.1953G>C (p.Glu651Asp) c.1962G>C (p.Glu654Asp) c.1853G>C c.793+2679G>C c.1857G>C (p.Glu619Asp) c.1914G>C (p.Glu638Asp) c.1863G>C (p.Glu621Asp) c.1968G>C (p.Glu656Asp) c.1875G>C (p.Glu625Asp) c.1974G>C (p.Glu658Asp) c.2004G>C (p.Glu668Asp) c.1995G>C (p.Glu665Asp) c.1965G>C (p.Glu655Asp) c.1908G>C (p.Glu636Asp) c.1854G>C (p.Glu618Asp) c.1647G>C (p.Glu549Asp) c.2061G>C (p.Glu687Asp) c.2055G>C (p.Glu685Asp) c.2052G>C (p.Glu684Asp) c.2112G>C (p.Glu704Asp) c.2103G>C (p.Glu701Asp) c.2022G>C (p.Glu674Asp) c.1971G>C (p.Glu657Asp) | COSMIC COSMIC COSMIC |
14 | g.33800260G= | CA2128327177 | NPAS3 | c.1953G= (p.Glu651=) c.1962G= (p.Glu654=) c.1853G= c.793+2679G= c.1857G= (p.Glu619=) c.1914G= (p.Glu638=) c.1863G= (p.Glu621=) c.1968G= (p.Glu656=) c.1875G= (p.Glu625=) c.1974G= (p.Glu658=) c.2004G= (p.Glu668=) c.1995G= (p.Glu665=) c.1965G= (p.Glu655=) c.1908G= (p.Glu636=) c.1854G= (p.Glu618=) c.1647G= (p.Glu549=) c.2061G= (p.Glu687=) c.2055G= (p.Glu685=) c.2052G= (p.Glu684=) c.2112G= (p.Glu704=) c.2103G= (p.Glu701=) c.2022G= (p.Glu674=) c.1971G= (p.Glu657=) | |
14 | g.33800260G>T | CA389413241 | NPAS3 | c.1953G>T (p.Glu651Asp) c.1962G>T (p.Glu654Asp) c.1853G>T c.793+2679G>T c.1857G>T (p.Glu619Asp) c.1914G>T (p.Glu638Asp) c.1863G>T (p.Glu621Asp) c.1968G>T (p.Glu656Asp) c.1875G>T (p.Glu625Asp) c.1974G>T (p.Glu658Asp) c.2004G>T (p.Glu668Asp) c.1995G>T (p.Glu665Asp) c.1965G>T (p.Glu655Asp) c.1908G>T (p.Glu636Asp) c.1854G>T (p.Glu618Asp) c.1647G>T (p.Glu549Asp) c.2061G>T (p.Glu687Asp) c.2055G>T (p.Glu685Asp) c.2052G>T (p.Glu684Asp) c.2112G>T (p.Glu704Asp) c.2103G>T (p.Glu701Asp) c.2022G>T (p.Glu674Asp) c.1971G>T (p.Glu657Asp) | |
14 | g.33800261A= | CA2128327182 | NPAS3 | c.1954A= (p.Ile652=) c.1963A= (p.Ile655=) c.1854A= c.793+2680A= c.1858A= (p.Ile620=) c.1915A= (p.Ile639=) c.1864A= (p.Ile622=) c.1969A= (p.Ile657=) c.1876A= (p.Ile626=) c.1975A= (p.Ile659=) c.2005A= (p.Ile669=) c.1996A= (p.Ile666=) c.1966A= (p.Ile656=) c.1909A= (p.Ile637=) c.1855A= (p.Ile619=) c.1648A= (p.Ile550=) c.2062A= (p.Ile688=) c.2056A= (p.Ile686=) c.2053A= (p.Ile685=) c.2113A= (p.Ile705=) c.2104A= (p.Ile702=) c.2023A= (p.Ile675=) c.1972A= (p.Ile658=) | |
14 | g.33800261A>C | CA389413243 | NPAS3 | c.1954A>C (p.Ile652Leu) c.1963A>C (p.Ile655Leu) c.1854A>C c.793+2680A>C c.1858A>C (p.Ile620Leu) c.1915A>C (p.Ile639Leu) c.1864A>C (p.Ile622Leu) c.1969A>C (p.Ile657Leu) c.1876A>C (p.Ile626Leu) c.1975A>C (p.Ile659Leu) c.2005A>C (p.Ile669Leu) c.1996A>C (p.Ile666Leu) c.1966A>C (p.Ile656Leu) c.1909A>C (p.Ile637Leu) c.1855A>C (p.Ile619Leu) c.1648A>C (p.Ile550Leu) c.2062A>C (p.Ile688Leu) c.2056A>C (p.Ile686Leu) c.2053A>C (p.Ile685Leu) c.2113A>C (p.Ile705Leu) c.2104A>C (p.Ile702Leu) c.2023A>C (p.Ile675Leu) c.1972A>C (p.Ile658Leu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800261A>G | CA389413245 | NPAS3 | c.1954A>G (p.Ile652Val) c.1963A>G (p.Ile655Val) c.1854A>G c.793+2680A>G c.1858A>G (p.Ile620Val) c.1915A>G (p.Ile639Val) c.1864A>G (p.Ile622Val) c.1969A>G (p.Ile657Val) c.1876A>G (p.Ile626Val) c.1975A>G (p.Ile659Val) c.2005A>G (p.Ile669Val) c.1996A>G (p.Ile666Val) c.1966A>G (p.Ile656Val) c.1909A>G (p.Ile637Val) c.1855A>G (p.Ile619Val) c.1648A>G (p.Ile550Val) c.2062A>G (p.Ile688Val) c.2056A>G (p.Ile686Val) c.2053A>G (p.Ile685Val) c.2113A>G (p.Ile705Val) c.2104A>G (p.Ile702Val) c.2023A>G (p.Ile675Val) c.1972A>G (p.Ile658Val) | |
14 | g.33800261A>T | CA7150918 | NPAS3 | c.1954A>T (p.Ile652Phe) c.1963A>T (p.Ile655Phe) c.1854A>T c.793+2680A>T c.1858A>T (p.Ile620Phe) c.1915A>T (p.Ile639Phe) c.1864A>T (p.Ile622Phe) c.1969A>T (p.Ile657Phe) c.1876A>T (p.Ile626Phe) c.1975A>T (p.Ile659Phe) c.2005A>T (p.Ile669Phe) c.1996A>T (p.Ile666Phe) c.1966A>T (p.Ile656Phe) c.1909A>T (p.Ile637Phe) c.1855A>T (p.Ile619Phe) c.1648A>T (p.Ile550Phe) c.2062A>T (p.Ile688Phe) c.2056A>T (p.Ile686Phe) c.2053A>T (p.Ile685Phe) c.2113A>T (p.Ile705Phe) c.2104A>T (p.Ile702Phe) c.2023A>T (p.Ile675Phe) c.1972A>T (p.Ile658Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800262T>A | CA389413247 | NPAS3 | c.1955T>A (p.Ile652Asn) c.1964T>A (p.Ile655Asn) c.1855T>A c.793+2681T>A c.1859T>A (p.Ile620Asn) c.1916T>A (p.Ile639Asn) c.1865T>A (p.Ile622Asn) c.1970T>A (p.Ile657Asn) c.1877T>A (p.Ile626Asn) c.1976T>A (p.Ile659Asn) c.2006T>A (p.Ile669Asn) c.1997T>A (p.Ile666Asn) c.1967T>A (p.Ile656Asn) c.1910T>A (p.Ile637Asn) c.1856T>A (p.Ile619Asn) c.1649T>A (p.Ile550Asn) c.2063T>A (p.Ile688Asn) c.2057T>A (p.Ile686Asn) c.2054T>A (p.Ile685Asn) c.2114T>A (p.Ile705Asn) c.2105T>A (p.Ile702Asn) c.2024T>A (p.Ile675Asn) c.1973T>A (p.Ile658Asn) | |
14 | g.33800262T>C | CA389413249 | NPAS3 | c.1955T>C (p.Ile652Thr) c.1964T>C (p.Ile655Thr) c.1855T>C c.793+2681T>C c.1859T>C (p.Ile620Thr) c.1916T>C (p.Ile639Thr) c.1865T>C (p.Ile622Thr) c.1970T>C (p.Ile657Thr) c.1877T>C (p.Ile626Thr) c.1976T>C (p.Ile659Thr) c.2006T>C (p.Ile669Thr) c.1997T>C (p.Ile666Thr) c.1967T>C (p.Ile656Thr) c.1910T>C (p.Ile637Thr) c.1856T>C (p.Ile619Thr) c.1649T>C (p.Ile550Thr) c.2063T>C (p.Ile688Thr) c.2057T>C (p.Ile686Thr) c.2054T>C (p.Ile685Thr) c.2114T>C (p.Ile705Thr) c.2105T>C (p.Ile702Thr) c.2024T>C (p.Ile675Thr) c.1973T>C (p.Ile658Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800262T>G | CA389413251 | NPAS3 | c.1955T>G (p.Ile652Ser) c.1964T>G (p.Ile655Ser) c.1855T>G c.793+2681T>G c.1859T>G (p.Ile620Ser) c.1916T>G (p.Ile639Ser) c.1865T>G (p.Ile622Ser) c.1970T>G (p.Ile657Ser) c.1877T>G (p.Ile626Ser) c.1976T>G (p.Ile659Ser) c.2006T>G (p.Ile669Ser) c.1997T>G (p.Ile666Ser) c.1967T>G (p.Ile656Ser) c.1910T>G (p.Ile637Ser) c.1856T>G (p.Ile619Ser) c.1649T>G (p.Ile550Ser) c.2063T>G (p.Ile688Ser) c.2057T>G (p.Ile686Ser) c.2054T>G (p.Ile685Ser) c.2114T>G (p.Ile705Ser) c.2105T>G (p.Ile702Ser) c.2024T>G (p.Ile675Ser) c.1973T>G (p.Ile658Ser) | |
14 | g.33800262T= | CA2128327187 | NPAS3 | c.1955T= (p.Ile652=) c.1964T= (p.Ile655=) c.1855T= c.793+2681T= c.1859T= (p.Ile620=) c.1916T= (p.Ile639=) c.1865T= (p.Ile622=) c.1970T= (p.Ile657=) c.1877T= (p.Ile626=) c.1976T= (p.Ile659=) c.2006T= (p.Ile669=) c.1997T= (p.Ile666=) c.1967T= (p.Ile656=) c.1910T= (p.Ile637=) c.1856T= (p.Ile619=) c.1649T= (p.Ile550=) c.2063T= (p.Ile688=) c.2057T= (p.Ile686=) c.2054T= (p.Ile685=) c.2114T= (p.Ile705=) c.2105T= (p.Ile702=) c.2024T= (p.Ile675=) c.1973T= (p.Ile658=) | |
14 | g.33800263C>A | CA486092983 | NPAS3 | c.1956C>A (p.Ile652=) c.1965C>A (p.Ile655=) c.1856C>A c.793+2682C>A c.1860C>A (p.Ile620=) c.1917C>A (p.Ile639=) c.1866C>A (p.Ile622=) c.1971C>A (p.Ile657=) c.1878C>A (p.Ile626=) c.1977C>A (p.Ile659=) c.2007C>A (p.Ile669=) c.1998C>A (p.Ile666=) c.1968C>A (p.Ile656=) c.1911C>A (p.Ile637=) c.1857C>A (p.Ile619=) c.1650C>A (p.Ile550=) c.2064C>A (p.Ile688=) c.2058C>A (p.Ile686=) c.2055C>A (p.Ile685=) c.2115C>A (p.Ile705=) c.2106C>A (p.Ile702=) c.2025C>A (p.Ile675=) c.1974C>A (p.Ile658=) | gnomAD v4 |
14 | g.33800263C>G | CA389413253 | NPAS3 | c.1956C>G (p.Ile652Met) c.1965C>G (p.Ile655Met) c.1856C>G c.793+2682C>G c.1860C>G (p.Ile620Met) c.1917C>G (p.Ile639Met) c.1866C>G (p.Ile622Met) c.1971C>G (p.Ile657Met) c.1878C>G (p.Ile626Met) c.1977C>G (p.Ile659Met) c.2007C>G (p.Ile669Met) c.1998C>G (p.Ile666Met) c.1968C>G (p.Ile656Met) c.1911C>G (p.Ile637Met) c.1857C>G (p.Ile619Met) c.1650C>G (p.Ile550Met) c.2064C>G (p.Ile688Met) c.2058C>G (p.Ile686Met) c.2055C>G (p.Ile685Met) c.2115C>G (p.Ile705Met) c.2106C>G (p.Ile702Met) c.2025C>G (p.Ile675Met) c.1974C>G (p.Ile658Met) | |
14 | g.33800263C>T | CA486092981 | NPAS3 | c.1956C>T (p.Ile652=) c.1965C>T (p.Ile655=) c.1856C>T c.793+2682C>T c.1860C>T (p.Ile620=) c.1917C>T (p.Ile639=) c.1866C>T (p.Ile622=) c.1971C>T (p.Ile657=) c.1878C>T (p.Ile626=) c.1977C>T (p.Ile659=) c.2007C>T (p.Ile669=) c.1998C>T (p.Ile666=) c.1968C>T (p.Ile656=) c.1911C>T (p.Ile637=) c.1857C>T (p.Ile619=) c.1650C>T (p.Ile550=) c.2064C>T (p.Ile688=) c.2058C>T (p.Ile686=) c.2055C>T (p.Ile685=) c.2115C>T (p.Ile705=) c.2106C>T (p.Ile702=) c.2025C>T (p.Ile675=) c.1974C>T (p.Ile658=) | gnomAD v4 |
14 | g.33800264T>A | CA389413256 | NPAS3 | c.1957T>A (p.Ser653Thr) c.1966T>A (p.Ser656Thr) c.1857T>A c.793+2683T>A c.1861T>A (p.Ser621Thr) c.1918T>A (p.Ser640Thr) c.1867T>A (p.Ser623Thr) c.1972T>A (p.Ser658Thr) c.1879T>A (p.Ser627Thr) c.1978T>A (p.Ser660Thr) c.2008T>A (p.Ser670Thr) c.1999T>A (p.Ser667Thr) c.1969T>A (p.Ser657Thr) c.1912T>A (p.Ser638Thr) c.1858T>A (p.Ser620Thr) c.1651T>A (p.Ser551Thr) c.2065T>A (p.Ser689Thr) c.2059T>A (p.Ser687Thr) c.2056T>A (p.Ser686Thr) c.2116T>A (p.Ser706Thr) c.2107T>A (p.Ser703Thr) c.2026T>A (p.Ser676Thr) c.1975T>A (p.Ser659Thr) | |
14 | g.33800264T>C | CA389413257 | NPAS3 | c.1957T>C (p.Ser653Pro) c.1966T>C (p.Ser656Pro) c.1857T>C c.793+2683T>C c.1861T>C (p.Ser621Pro) c.1918T>C (p.Ser640Pro) c.1867T>C (p.Ser623Pro) c.1972T>C (p.Ser658Pro) c.1879T>C (p.Ser627Pro) c.1978T>C (p.Ser660Pro) c.2008T>C (p.Ser670Pro) c.1999T>C (p.Ser667Pro) c.1969T>C (p.Ser657Pro) c.1912T>C (p.Ser638Pro) c.1858T>C (p.Ser620Pro) c.1651T>C (p.Ser551Pro) c.2065T>C (p.Ser689Pro) c.2059T>C (p.Ser687Pro) c.2056T>C (p.Ser686Pro) c.2116T>C (p.Ser706Pro) c.2107T>C (p.Ser703Pro) c.2026T>C (p.Ser676Pro) c.1975T>C (p.Ser659Pro) | |
14 | g.33800264T>G | CA389413259 | NPAS3 | c.1957T>G (p.Ser653Ala) c.1966T>G (p.Ser656Ala) c.1857T>G c.793+2683T>G c.1861T>G (p.Ser621Ala) c.1918T>G (p.Ser640Ala) c.1867T>G (p.Ser623Ala) c.1972T>G (p.Ser658Ala) c.1879T>G (p.Ser627Ala) c.1978T>G (p.Ser660Ala) c.2008T>G (p.Ser670Ala) c.1999T>G (p.Ser667Ala) c.1969T>G (p.Ser657Ala) c.1912T>G (p.Ser638Ala) c.1858T>G (p.Ser620Ala) c.1651T>G (p.Ser551Ala) c.2065T>G (p.Ser689Ala) c.2059T>G (p.Ser687Ala) c.2056T>G (p.Ser686Ala) c.2116T>G (p.Ser706Ala) c.2107T>G (p.Ser703Ala) c.2026T>G (p.Ser676Ala) c.1975T>G (p.Ser659Ala) | |
14 | g.33800265C>A | CA389413262 | NPAS3 | c.1958C>A (p.Ser653Ter) c.1967C>A (p.Ser656Ter) c.1858C>A c.793+2684C>A c.1862C>A (p.Ser621Ter) c.1919C>A (p.Ser640Ter) c.1868C>A (p.Ser623Ter) c.1973C>A (p.Ser658Ter) c.1880C>A (p.Ser627Ter) c.1979C>A (p.Ser660Ter) c.2009C>A (p.Ser670Ter) c.2000C>A (p.Ser667Ter) c.1970C>A (p.Ser657Ter) c.1913C>A (p.Ser638Ter) c.1859C>A (p.Ser620Ter) c.1652C>A (p.Ser551Ter) c.2066C>A (p.Ser689Ter) c.2060C>A (p.Ser687Ter) c.2057C>A (p.Ser686Ter) c.2117C>A (p.Ser706Ter) c.2108C>A (p.Ser703Ter) c.2027C>A (p.Ser676Ter) c.1976C>A (p.Ser659Ter) | |
14 | g.33800265C>G | CA389413264 | NPAS3 | c.1958C>G (p.Ser653Ter) c.1967C>G (p.Ser656Ter) c.1858C>G c.793+2684C>G c.1862C>G (p.Ser621Ter) c.1919C>G (p.Ser640Ter) c.1868C>G (p.Ser623Ter) c.1973C>G (p.Ser658Ter) c.1880C>G (p.Ser627Ter) c.1979C>G (p.Ser660Ter) c.2009C>G (p.Ser670Ter) c.2000C>G (p.Ser667Ter) c.1970C>G (p.Ser657Ter) c.1913C>G (p.Ser638Ter) c.1859C>G (p.Ser620Ter) c.1652C>G (p.Ser551Ter) c.2066C>G (p.Ser689Ter) c.2060C>G (p.Ser687Ter) c.2057C>G (p.Ser686Ter) c.2117C>G (p.Ser706Ter) c.2108C>G (p.Ser703Ter) c.2027C>G (p.Ser676Ter) c.1976C>G (p.Ser659Ter) | |
14 | g.33800265C>T | CA389413266 | NPAS3 | c.1958C>T (p.Ser653Leu) c.1967C>T (p.Ser656Leu) c.1858C>T c.793+2684C>T c.1862C>T (p.Ser621Leu) c.1919C>T (p.Ser640Leu) c.1868C>T (p.Ser623Leu) c.1973C>T (p.Ser658Leu) c.1880C>T (p.Ser627Leu) c.1979C>T (p.Ser660Leu) c.2009C>T (p.Ser670Leu) c.2000C>T (p.Ser667Leu) c.1970C>T (p.Ser657Leu) c.1913C>T (p.Ser638Leu) c.1859C>T (p.Ser620Leu) c.1652C>T (p.Ser551Leu) c.2066C>T (p.Ser689Leu) c.2060C>T (p.Ser687Leu) c.2057C>T (p.Ser686Leu) c.2117C>T (p.Ser706Leu) c.2108C>T (p.Ser703Leu) c.2027C>T (p.Ser676Leu) c.1976C>T (p.Ser659Leu) | |
14 | g.33800266A>C | CA486092985 | NPAS3 | c.1959A>C (p.Ser653=) c.1968A>C (p.Ser656=) c.1859A>C c.793+2685A>C c.1863A>C (p.Ser621=) c.1920A>C (p.Ser640=) c.1869A>C (p.Ser623=) c.1974A>C (p.Ser658=) c.1881A>C (p.Ser627=) c.1980A>C (p.Ser660=) c.2010A>C (p.Ser670=) c.2001A>C (p.Ser667=) c.1971A>C (p.Ser657=) c.1914A>C (p.Ser638=) c.1860A>C (p.Ser620=) c.1653A>C (p.Ser551=) c.2067A>C (p.Ser689=) c.2061A>C (p.Ser687=) c.2058A>C (p.Ser686=) c.2118A>C (p.Ser706=) c.2109A>C (p.Ser703=) c.2028A>C (p.Ser676=) c.1977A>C (p.Ser659=) | |
14 | g.33800266A>G | CA486092987 | NPAS3 | c.1959A>G (p.Ser653=) c.1968A>G (p.Ser656=) c.1859A>G c.793+2685A>G c.1863A>G (p.Ser621=) c.1920A>G (p.Ser640=) c.1869A>G (p.Ser623=) c.1974A>G (p.Ser658=) c.1881A>G (p.Ser627=) c.1980A>G (p.Ser660=) c.2010A>G (p.Ser670=) c.2001A>G (p.Ser667=) c.1971A>G (p.Ser657=) c.1914A>G (p.Ser638=) c.1860A>G (p.Ser620=) c.1653A>G (p.Ser551=) c.2067A>G (p.Ser689=) c.2061A>G (p.Ser687=) c.2058A>G (p.Ser686=) c.2118A>G (p.Ser706=) c.2109A>G (p.Ser703=) c.2028A>G (p.Ser676=) c.1977A>G (p.Ser659=) | dbSNP |
14 | g.33800266A>T | CA486092986 | NPAS3 | c.1959A>T (p.Ser653=) c.1968A>T (p.Ser656=) c.1859A>T c.793+2685A>T c.1863A>T (p.Ser621=) c.1920A>T (p.Ser640=) c.1869A>T (p.Ser623=) c.1974A>T (p.Ser658=) c.1881A>T (p.Ser627=) c.1980A>T (p.Ser660=) c.2010A>T (p.Ser670=) c.2001A>T (p.Ser667=) c.1971A>T (p.Ser657=) c.1914A>T (p.Ser638=) c.1860A>T (p.Ser620=) c.1653A>T (p.Ser551=) c.2067A>T (p.Ser689=) c.2061A>T (p.Ser687=) c.2058A>T (p.Ser686=) c.2118A>T (p.Ser706=) c.2109A>T (p.Ser703=) c.2028A>T (p.Ser676=) c.1977A>T (p.Ser659=) | |
14 | g.33800267G>A | CA7150919 | NPAS3 | c.1960G>A (p.Glu654Lys) c.1969G>A (p.Glu657Lys) c.1860G>A c.793+2686G>A c.1864G>A (p.Glu622Lys) c.1921G>A (p.Glu641Lys) c.1870G>A (p.Glu624Lys) c.1975G>A (p.Glu659Lys) c.1882G>A (p.Glu628Lys) c.1981G>A (p.Glu661Lys) c.2011G>A (p.Glu671Lys) c.2002G>A (p.Glu668Lys) c.1972G>A (p.Glu658Lys) c.1915G>A (p.Glu639Lys) c.1861G>A (p.Glu621Lys) c.1654G>A (p.Glu552Lys) c.2068G>A (p.Glu690Lys) c.2062G>A (p.Glu688Lys) c.2059G>A (p.Glu687Lys) c.2119G>A (p.Glu707Lys) c.2110G>A (p.Glu704Lys) c.2029G>A (p.Glu677Lys) c.1978G>A (p.Glu660Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800267G>C | CA389413270 | NPAS3 | c.1960G>C (p.Glu654Gln) c.1969G>C (p.Glu657Gln) c.1860G>C c.793+2686G>C c.1864G>C (p.Glu622Gln) c.1921G>C (p.Glu641Gln) c.1870G>C (p.Glu624Gln) c.1975G>C (p.Glu659Gln) c.1882G>C (p.Glu628Gln) c.1981G>C (p.Glu661Gln) c.2011G>C (p.Glu671Gln) c.2002G>C (p.Glu668Gln) c.1972G>C (p.Glu658Gln) c.1915G>C (p.Glu639Gln) c.1861G>C (p.Glu621Gln) c.1654G>C (p.Glu552Gln) c.2068G>C (p.Glu690Gln) c.2062G>C (p.Glu688Gln) c.2059G>C (p.Glu687Gln) c.2119G>C (p.Glu707Gln) c.2110G>C (p.Glu704Gln) c.2029G>C (p.Glu677Gln) c.1978G>C (p.Glu660Gln) | |
14 | g.33800267G= | CA2128327192 | NPAS3 | c.1960G= (p.Glu654=) c.1969G= (p.Glu657=) c.1860G= c.793+2686G= c.1864G= (p.Glu622=) c.1921G= (p.Glu641=) c.1870G= (p.Glu624=) c.1975G= (p.Glu659=) c.1882G= (p.Glu628=) c.1981G= (p.Glu661=) c.2011G= (p.Glu671=) c.2002G= (p.Glu668=) c.1972G= (p.Glu658=) c.1915G= (p.Glu639=) c.1861G= (p.Glu621=) c.1654G= (p.Glu552=) c.2068G= (p.Glu690=) c.2062G= (p.Glu688=) c.2059G= (p.Glu687=) c.2119G= (p.Glu707=) c.2110G= (p.Glu704=) c.2029G= (p.Glu677=) c.1978G= (p.Glu660=) | |
14 | g.33800267G>T | CA389413268 | NPAS3 | c.1960G>T (p.Glu654Ter) c.1969G>T (p.Glu657Ter) c.1860G>T c.793+2686G>T c.1864G>T (p.Glu622Ter) c.1921G>T (p.Glu641Ter) c.1870G>T (p.Glu624Ter) c.1975G>T (p.Glu659Ter) c.1882G>T (p.Glu628Ter) c.1981G>T (p.Glu661Ter) c.2011G>T (p.Glu671Ter) c.2002G>T (p.Glu668Ter) c.1972G>T (p.Glu658Ter) c.1915G>T (p.Glu639Ter) c.1861G>T (p.Glu621Ter) c.1654G>T (p.Glu552Ter) c.2068G>T (p.Glu690Ter) c.2062G>T (p.Glu688Ter) c.2059G>T (p.Glu687Ter) c.2119G>T (p.Glu707Ter) c.2110G>T (p.Glu704Ter) c.2029G>T (p.Glu677Ter) c.1978G>T (p.Glu660Ter) | |
14 | g.33800268A= | CA2128327194 | NPAS3 | c.1961A= (p.Glu654=) c.1970A= (p.Glu657=) c.1861A= c.793+2687A= c.1865A= (p.Glu622=) c.1922A= (p.Glu641=) c.1871A= (p.Glu624=) c.1976A= (p.Glu659=) c.1883A= (p.Glu628=) c.1982A= (p.Glu661=) c.2012A= (p.Glu671=) c.2003A= (p.Glu668=) c.1973A= (p.Glu658=) c.1916A= (p.Glu639=) c.1862A= (p.Glu621=) c.1655A= (p.Glu552=) c.2069A= (p.Glu690=) c.2063A= (p.Glu688=) c.2060A= (p.Glu687=) c.2120A= (p.Glu707=) c.2111A= (p.Glu704=) c.2030A= (p.Glu677=) c.1979A= (p.Glu660=) | |
14 | g.33800268A>C | CA389413274 | NPAS3 | c.1961A>C (p.Glu654Ala) c.1970A>C (p.Glu657Ala) c.1861A>C c.793+2687A>C c.1865A>C (p.Glu622Ala) c.1922A>C (p.Glu641Ala) c.1871A>C (p.Glu624Ala) c.1976A>C (p.Glu659Ala) c.1883A>C (p.Glu628Ala) c.1982A>C (p.Glu661Ala) c.2012A>C (p.Glu671Ala) c.2003A>C (p.Glu668Ala) c.1973A>C (p.Glu658Ala) c.1916A>C (p.Glu639Ala) c.1862A>C (p.Glu621Ala) c.1655A>C (p.Glu552Ala) c.2069A>C (p.Glu690Ala) c.2063A>C (p.Glu688Ala) c.2060A>C (p.Glu687Ala) c.2120A>C (p.Glu707Ala) c.2111A>C (p.Glu704Ala) c.2030A>C (p.Glu677Ala) c.1979A>C (p.Glu660Ala) | |
14 | g.33800268A>G | CA258718985 | NPAS3 | c.1961A>G (p.Glu654Gly) c.1970A>G (p.Glu657Gly) c.1861A>G c.793+2687A>G c.1865A>G (p.Glu622Gly) c.1922A>G (p.Glu641Gly) c.1871A>G (p.Glu624Gly) c.1976A>G (p.Glu659Gly) c.1883A>G (p.Glu628Gly) c.1982A>G (p.Glu661Gly) c.2012A>G (p.Glu671Gly) c.2003A>G (p.Glu668Gly) c.1973A>G (p.Glu658Gly) c.1916A>G (p.Glu639Gly) c.1862A>G (p.Glu621Gly) c.1655A>G (p.Glu552Gly) c.2069A>G (p.Glu690Gly) c.2063A>G (p.Glu688Gly) c.2060A>G (p.Glu687Gly) c.2120A>G (p.Glu707Gly) c.2111A>G (p.Glu704Gly) c.2030A>G (p.Glu677Gly) c.1979A>G (p.Glu660Gly) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800268A>T | CA389413277 | NPAS3 | c.1961A>T (p.Glu654Val) c.1970A>T (p.Glu657Val) c.1861A>T c.793+2687A>T c.1865A>T (p.Glu622Val) c.1922A>T (p.Glu641Val) c.1871A>T (p.Glu624Val) c.1976A>T (p.Glu659Val) c.1883A>T (p.Glu628Val) c.1982A>T (p.Glu661Val) c.2012A>T (p.Glu671Val) c.2003A>T (p.Glu668Val) c.1973A>T (p.Glu658Val) c.1916A>T (p.Glu639Val) c.1862A>T (p.Glu621Val) c.1655A>T (p.Glu552Val) c.2069A>T (p.Glu690Val) c.2063A>T (p.Glu688Val) c.2060A>T (p.Glu687Val) c.2120A>T (p.Glu707Val) c.2111A>T (p.Glu704Val) c.2030A>T (p.Glu677Val) c.1979A>T (p.Glu660Val) | |
14 | g.33800269A= | CA2128327197 | NPAS3 | c.1962A= (p.Glu654=) c.1971A= (p.Glu657=) c.1862A= c.793+2688A= c.1866A= (p.Glu622=) c.1923A= (p.Glu641=) c.1872A= (p.Glu624=) c.1977A= (p.Glu659=) c.1884A= (p.Glu628=) c.1983A= (p.Glu661=) c.2013A= (p.Glu671=) c.2004A= (p.Glu668=) c.1974A= (p.Glu658=) c.1917A= (p.Glu639=) c.1863A= (p.Glu621=) c.1656A= (p.Glu552=) c.2070A= (p.Glu690=) c.2064A= (p.Glu688=) c.2061A= (p.Glu687=) c.2121A= (p.Glu707=) c.2112A= (p.Glu704=) c.2031A= (p.Glu677=) c.1980A= (p.Glu660=) | |
14 | g.33800269A>C | CA389413279 | NPAS3 | c.1962A>C (p.Glu654Asp) c.1971A>C (p.Glu657Asp) c.1862A>C c.793+2688A>C c.1866A>C (p.Glu622Asp) c.1923A>C (p.Glu641Asp) c.1872A>C (p.Glu624Asp) c.1977A>C (p.Glu659Asp) c.1884A>C (p.Glu628Asp) c.1983A>C (p.Glu661Asp) c.2013A>C (p.Glu671Asp) c.2004A>C (p.Glu668Asp) c.1974A>C (p.Glu658Asp) c.1917A>C (p.Glu639Asp) c.1863A>C (p.Glu621Asp) c.1656A>C (p.Glu552Asp) c.2070A>C (p.Glu690Asp) c.2064A>C (p.Glu688Asp) c.2061A>C (p.Glu687Asp) c.2121A>C (p.Glu707Asp) c.2112A>C (p.Glu704Asp) c.2031A>C (p.Glu677Asp) c.1980A>C (p.Glu660Asp) | |
14 | g.33800269A>G | CA486092993 | NPAS3 | c.1962A>G (p.Glu654=) c.1971A>G (p.Glu657=) c.1862A>G c.793+2688A>G c.1866A>G (p.Glu622=) c.1923A>G (p.Glu641=) c.1872A>G (p.Glu624=) c.1977A>G (p.Glu659=) c.1884A>G (p.Glu628=) c.1983A>G (p.Glu661=) c.2013A>G (p.Glu671=) c.2004A>G (p.Glu668=) c.1974A>G (p.Glu658=) c.1917A>G (p.Glu639=) c.1863A>G (p.Glu621=) c.1656A>G (p.Glu552=) c.2070A>G (p.Glu690=) c.2064A>G (p.Glu688=) c.2061A>G (p.Glu687=) c.2121A>G (p.Glu707=) c.2112A>G (p.Glu704=) c.2031A>G (p.Glu677=) c.1980A>G (p.Glu660=) | |
14 | g.33800269A>T | CA389413281 | NPAS3 | c.1962A>T (p.Glu654Asp) c.1971A>T (p.Glu657Asp) c.1862A>T c.793+2688A>T c.1866A>T (p.Glu622Asp) c.1923A>T (p.Glu641Asp) c.1872A>T (p.Glu624Asp) c.1977A>T (p.Glu659Asp) c.1884A>T (p.Glu628Asp) c.1983A>T (p.Glu661Asp) c.2013A>T (p.Glu671Asp) c.2004A>T (p.Glu668Asp) c.1974A>T (p.Glu658Asp) c.1917A>T (p.Glu639Asp) c.1863A>T (p.Glu621Asp) c.1656A>T (p.Glu552Asp) c.2070A>T (p.Glu690Asp) c.2064A>T (p.Glu688Asp) c.2061A>T (p.Glu687Asp) c.2121A>T (p.Glu707Asp) c.2112A>T (p.Glu704Asp) c.2031A>T (p.Glu677Asp) c.1980A>T (p.Glu660Asp) | dbSNP gnomAD v4 |
14 | g.33800270C>A | CA389413283 | NPAS3 | c.1963C>A (p.Pro655Thr) c.1972C>A (p.Pro658Thr) c.1863C>A c.793+2689C>A c.1867C>A (p.Pro623Thr) c.1924C>A (p.Pro642Thr) c.1873C>A (p.Pro625Thr) c.1978C>A (p.Pro660Thr) c.1885C>A (p.Pro629Thr) c.1984C>A (p.Pro662Thr) c.2014C>A (p.Pro672Thr) c.2005C>A (p.Pro669Thr) c.1975C>A (p.Pro659Thr) c.1918C>A (p.Pro640Thr) c.1864C>A (p.Pro622Thr) c.1657C>A (p.Pro553Thr) c.2071C>A (p.Pro691Thr) c.2065C>A (p.Pro689Thr) c.2062C>A (p.Pro688Thr) c.2122C>A (p.Pro708Thr) c.2113C>A (p.Pro705Thr) c.2032C>A (p.Pro678Thr) c.1981C>A (p.Pro661Thr) | |
14 | g.33800270C= | CA2128327199 | NPAS3 | c.1963C= (p.Pro655=) c.1972C= (p.Pro658=) c.1863C= c.793+2689C= c.1867C= (p.Pro623=) c.1924C= (p.Pro642=) c.1873C= (p.Pro625=) c.1978C= (p.Pro660=) c.1885C= (p.Pro629=) c.1984C= (p.Pro662=) c.2014C= (p.Pro672=) c.2005C= (p.Pro669=) c.1975C= (p.Pro659=) c.1918C= (p.Pro640=) c.1864C= (p.Pro622=) c.1657C= (p.Pro553=) c.2071C= (p.Pro691=) c.2065C= (p.Pro689=) c.2062C= (p.Pro688=) c.2122C= (p.Pro708=) c.2113C= (p.Pro705=) c.2032C= (p.Pro678=) c.1981C= (p.Pro661=) | |
14 | g.33800270C>G | CA389413285 | NPAS3 | c.1963C>G (p.Pro655Ala) c.1972C>G (p.Pro658Ala) c.1863C>G c.793+2689C>G c.1867C>G (p.Pro623Ala) c.1924C>G (p.Pro642Ala) c.1873C>G (p.Pro625Ala) c.1978C>G (p.Pro660Ala) c.1885C>G (p.Pro629Ala) c.1984C>G (p.Pro662Ala) c.2014C>G (p.Pro672Ala) c.2005C>G (p.Pro669Ala) c.1975C>G (p.Pro659Ala) c.1918C>G (p.Pro640Ala) c.1864C>G (p.Pro622Ala) c.1657C>G (p.Pro553Ala) c.2071C>G (p.Pro691Ala) c.2065C>G (p.Pro689Ala) c.2062C>G (p.Pro688Ala) c.2122C>G (p.Pro708Ala) c.2113C>G (p.Pro705Ala) c.2032C>G (p.Pro678Ala) c.1981C>G (p.Pro661Ala) | |
14 | g.33800270C>T | CA389413286 | NPAS3 | c.1963C>T (p.Pro655Ser) c.1972C>T (p.Pro658Ser) c.1863C>T c.793+2689C>T c.1867C>T (p.Pro623Ser) c.1924C>T (p.Pro642Ser) c.1873C>T (p.Pro625Ser) c.1978C>T (p.Pro660Ser) c.1885C>T (p.Pro629Ser) c.1984C>T (p.Pro662Ser) c.2014C>T (p.Pro672Ser) c.2005C>T (p.Pro669Ser) c.1975C>T (p.Pro659Ser) c.1918C>T (p.Pro640Ser) c.1864C>T (p.Pro622Ser) c.1657C>T (p.Pro553Ser) c.2071C>T (p.Pro691Ser) c.2065C>T (p.Pro689Ser) c.2062C>T (p.Pro688Ser) c.2122C>T (p.Pro708Ser) c.2113C>T (p.Pro705Ser) c.2032C>T (p.Pro678Ser) c.1981C>T (p.Pro661Ser) | dbSNP gnomAD v4 |
14 | g.33800271C>A | CA389413292 | NPAS3 | c.1964C>A (p.Pro655His) c.1973C>A (p.Pro658His) c.1864C>A c.793+2690C>A c.1868C>A (p.Pro623His) c.1925C>A (p.Pro642His) c.1874C>A (p.Pro625His) c.1979C>A (p.Pro660His) c.1886C>A (p.Pro629His) c.1985C>A (p.Pro662His) c.2015C>A (p.Pro672His) c.2006C>A (p.Pro669His) c.1976C>A (p.Pro659His) c.1919C>A (p.Pro640His) c.1865C>A (p.Pro622His) c.1658C>A (p.Pro553His) c.2072C>A (p.Pro691His) c.2066C>A (p.Pro689His) c.2063C>A (p.Pro688His) c.2123C>A (p.Pro708His) c.2114C>A (p.Pro705His) c.2033C>A (p.Pro678His) c.1982C>A (p.Pro661His) | |
14 | g.33800271C= | CA2128327201 | NPAS3 | c.1964C= (p.Pro655=) c.1973C= (p.Pro658=) c.1864C= c.793+2690C= c.1868C= (p.Pro623=) c.1925C= (p.Pro642=) c.1874C= (p.Pro625=) c.1979C= (p.Pro660=) c.1886C= (p.Pro629=) c.1985C= (p.Pro662=) c.2015C= (p.Pro672=) c.2006C= (p.Pro669=) c.1976C= (p.Pro659=) c.1919C= (p.Pro640=) c.1865C= (p.Pro622=) c.1658C= (p.Pro553=) c.2072C= (p.Pro691=) c.2066C= (p.Pro689=) c.2063C= (p.Pro688=) c.2123C= (p.Pro708=) c.2114C= (p.Pro705=) c.2033C= (p.Pro678=) c.1982C= (p.Pro661=) | |
14 | g.33800271C>G | CA389413293 | NPAS3 | c.1964C>G (p.Pro655Arg) c.1973C>G (p.Pro658Arg) c.1864C>G c.793+2690C>G c.1868C>G (p.Pro623Arg) c.1925C>G (p.Pro642Arg) c.1874C>G (p.Pro625Arg) c.1979C>G (p.Pro660Arg) c.1886C>G (p.Pro629Arg) c.1985C>G (p.Pro662Arg) c.2015C>G (p.Pro672Arg) c.2006C>G (p.Pro669Arg) c.1976C>G (p.Pro659Arg) c.1919C>G (p.Pro640Arg) c.1865C>G (p.Pro622Arg) c.1658C>G (p.Pro553Arg) c.2072C>G (p.Pro691Arg) c.2066C>G (p.Pro689Arg) c.2063C>G (p.Pro688Arg) c.2123C>G (p.Pro708Arg) c.2114C>G (p.Pro705Arg) c.2033C>G (p.Pro678Arg) c.1982C>G (p.Pro661Arg) | dbSNP |
14 | g.33800271C>T | CA389413295 | NPAS3 | c.1964C>T (p.Pro655Leu) c.1973C>T (p.Pro658Leu) c.1864C>T c.793+2690C>T c.1868C>T (p.Pro623Leu) c.1925C>T (p.Pro642Leu) c.1874C>T (p.Pro625Leu) c.1979C>T (p.Pro660Leu) c.1886C>T (p.Pro629Leu) c.1985C>T (p.Pro662Leu) c.2015C>T (p.Pro672Leu) c.2006C>T (p.Pro669Leu) c.1976C>T (p.Pro659Leu) c.1919C>T (p.Pro640Leu) c.1865C>T (p.Pro622Leu) c.1658C>T (p.Pro553Leu) c.2072C>T (p.Pro691Leu) c.2066C>T (p.Pro689Leu) c.2063C>T (p.Pro688Leu) c.2123C>T (p.Pro708Leu) c.2114C>T (p.Pro705Leu) c.2033C>T (p.Pro678Leu) c.1982C>T (p.Pro661Leu) | |
14 | g.33800272C>A | CA486092994 | NPAS3 | c.1965C>A (p.Pro655=) c.1974C>A (p.Pro658=) c.1865C>A c.793+2691C>A c.1869C>A (p.Pro623=) c.1926C>A (p.Pro642=) c.1875C>A (p.Pro625=) c.1980C>A (p.Pro660=) c.1887C>A (p.Pro629=) c.1986C>A (p.Pro662=) c.2016C>A (p.Pro672=) c.2007C>A (p.Pro669=) c.1977C>A (p.Pro659=) c.1920C>A (p.Pro640=) c.1866C>A (p.Pro622=) c.1659C>A (p.Pro553=) c.2073C>A (p.Pro691=) c.2067C>A (p.Pro689=) c.2064C>A (p.Pro688=) c.2124C>A (p.Pro708=) c.2115C>A (p.Pro705=) c.2034C>A (p.Pro678=) c.1983C>A (p.Pro661=) | |
14 | g.33800272C>G | CA486092995 | NPAS3 | c.1965C>G (p.Pro655=) c.1974C>G (p.Pro658=) c.1865C>G c.793+2691C>G c.1869C>G (p.Pro623=) c.1926C>G (p.Pro642=) c.1875C>G (p.Pro625=) c.1980C>G (p.Pro660=) c.1887C>G (p.Pro629=) c.1986C>G (p.Pro662=) c.2016C>G (p.Pro672=) c.2007C>G (p.Pro669=) c.1977C>G (p.Pro659=) c.1920C>G (p.Pro640=) c.1866C>G (p.Pro622=) c.1659C>G (p.Pro553=) c.2073C>G (p.Pro691=) c.2067C>G (p.Pro689=) c.2064C>G (p.Pro688=) c.2124C>G (p.Pro708=) c.2115C>G (p.Pro705=) c.2034C>G (p.Pro678=) c.1983C>G (p.Pro661=) | |
14 | g.33800272C>T | CA486092996 | NPAS3 | c.1965C>T (p.Pro655=) c.1974C>T (p.Pro658=) c.1865C>T c.793+2691C>T c.1869C>T (p.Pro623=) c.1926C>T (p.Pro642=) c.1875C>T (p.Pro625=) c.1980C>T (p.Pro660=) c.1887C>T (p.Pro629=) c.1986C>T (p.Pro662=) c.2016C>T (p.Pro672=) c.2007C>T (p.Pro669=) c.1977C>T (p.Pro659=) c.1920C>T (p.Pro640=) c.1866C>T (p.Pro622=) c.1659C>T (p.Pro553=) c.2073C>T (p.Pro691=) c.2067C>T (p.Pro689=) c.2064C>T (p.Pro688=) c.2124C>T (p.Pro708=) c.2115C>T (p.Pro705=) c.2034C>T (p.Pro678=) c.1983C>T (p.Pro661=) | |
14 | g.33800273A>C | CA389413298 | NPAS3 | c.1966A>C (p.Ile656Leu) c.1975A>C (p.Ile659Leu) c.1866A>C c.793+2692A>C c.1870A>C (p.Ile624Leu) c.1927A>C (p.Ile643Leu) c.1876A>C (p.Ile626Leu) c.1981A>C (p.Ile661Leu) c.1888A>C (p.Ile630Leu) c.1987A>C (p.Ile663Leu) c.2017A>C (p.Ile673Leu) c.2008A>C (p.Ile670Leu) c.1978A>C (p.Ile660Leu) c.1921A>C (p.Ile641Leu) c.1867A>C (p.Ile623Leu) c.1660A>C (p.Ile554Leu) c.2074A>C (p.Ile692Leu) c.2068A>C (p.Ile690Leu) c.2065A>C (p.Ile689Leu) c.2125A>C (p.Ile709Leu) c.2116A>C (p.Ile706Leu) c.2035A>C (p.Ile679Leu) c.1984A>C (p.Ile662Leu) | gnomAD v4 |
14 | g.33800273A>G | CA389413299 | NPAS3 | c.1966A>G (p.Ile656Val) c.1975A>G (p.Ile659Val) c.1866A>G c.793+2692A>G c.1870A>G (p.Ile624Val) c.1927A>G (p.Ile643Val) c.1876A>G (p.Ile626Val) c.1981A>G (p.Ile661Val) c.1888A>G (p.Ile630Val) c.1987A>G (p.Ile663Val) c.2017A>G (p.Ile673Val) c.2008A>G (p.Ile670Val) c.1978A>G (p.Ile660Val) c.1921A>G (p.Ile641Val) c.1867A>G (p.Ile623Val) c.1660A>G (p.Ile554Val) c.2074A>G (p.Ile692Val) c.2068A>G (p.Ile690Val) c.2065A>G (p.Ile689Val) c.2125A>G (p.Ile709Val) c.2116A>G (p.Ile706Val) c.2035A>G (p.Ile679Val) c.1984A>G (p.Ile662Val) | gnomAD v4 |
14 | g.33800273A>T | CA389413302 | NPAS3 | c.1966A>T (p.Ile656Phe) c.1975A>T (p.Ile659Phe) c.1866A>T c.793+2692A>T c.1870A>T (p.Ile624Phe) c.1927A>T (p.Ile643Phe) c.1876A>T (p.Ile626Phe) c.1981A>T (p.Ile661Phe) c.1888A>T (p.Ile630Phe) c.1987A>T (p.Ile663Phe) c.2017A>T (p.Ile673Phe) c.2008A>T (p.Ile670Phe) c.1978A>T (p.Ile660Phe) c.1921A>T (p.Ile641Phe) c.1867A>T (p.Ile623Phe) c.1660A>T (p.Ile554Phe) c.2074A>T (p.Ile692Phe) c.2068A>T (p.Ile690Phe) c.2065A>T (p.Ile689Phe) c.2125A>T (p.Ile709Phe) c.2116A>T (p.Ile706Phe) c.2035A>T (p.Ile679Phe) c.1984A>T (p.Ile662Phe) | |
14 | g.33800274T>A | CA389413306 | NPAS3 | c.1967T>A (p.Ile656Asn) c.1976T>A (p.Ile659Asn) c.1867T>A c.793+2693T>A c.1871T>A (p.Ile624Asn) c.1928T>A (p.Ile643Asn) c.1877T>A (p.Ile626Asn) c.1982T>A (p.Ile661Asn) c.1889T>A (p.Ile630Asn) c.1988T>A (p.Ile663Asn) c.2018T>A (p.Ile673Asn) c.2009T>A (p.Ile670Asn) c.1979T>A (p.Ile660Asn) c.1922T>A (p.Ile641Asn) c.1868T>A (p.Ile623Asn) c.1661T>A (p.Ile554Asn) c.2075T>A (p.Ile692Asn) c.2069T>A (p.Ile690Asn) c.2066T>A (p.Ile689Asn) c.2126T>A (p.Ile709Asn) c.2117T>A (p.Ile706Asn) c.2036T>A (p.Ile679Asn) c.1985T>A (p.Ile662Asn) | |
14 | g.33800274T>C | CA389413308 | NPAS3 | c.1967T>C (p.Ile656Thr) c.1976T>C (p.Ile659Thr) c.1867T>C c.793+2693T>C c.1871T>C (p.Ile624Thr) c.1928T>C (p.Ile643Thr) c.1877T>C (p.Ile626Thr) c.1982T>C (p.Ile661Thr) c.1889T>C (p.Ile630Thr) c.1988T>C (p.Ile663Thr) c.2018T>C (p.Ile673Thr) c.2009T>C (p.Ile670Thr) c.1979T>C (p.Ile660Thr) c.1922T>C (p.Ile641Thr) c.1868T>C (p.Ile623Thr) c.1661T>C (p.Ile554Thr) c.2075T>C (p.Ile692Thr) c.2069T>C (p.Ile690Thr) c.2066T>C (p.Ile689Thr) c.2126T>C (p.Ile709Thr) c.2117T>C (p.Ile706Thr) c.2036T>C (p.Ile679Thr) c.1985T>C (p.Ile662Thr) | |
14 | g.33800274T>G | CA389413304 | NPAS3 | c.1967T>G (p.Ile656Ser) c.1976T>G (p.Ile659Ser) c.1867T>G c.793+2693T>G c.1871T>G (p.Ile624Ser) c.1928T>G (p.Ile643Ser) c.1877T>G (p.Ile626Ser) c.1982T>G (p.Ile661Ser) c.1889T>G (p.Ile630Ser) c.1988T>G (p.Ile663Ser) c.2018T>G (p.Ile673Ser) c.2009T>G (p.Ile670Ser) c.1979T>G (p.Ile660Ser) c.1922T>G (p.Ile641Ser) c.1868T>G (p.Ile623Ser) c.1661T>G (p.Ile554Ser) c.2075T>G (p.Ile692Ser) c.2069T>G (p.Ile690Ser) c.2066T>G (p.Ile689Ser) c.2126T>G (p.Ile709Ser) c.2117T>G (p.Ile706Ser) c.2036T>G (p.Ile679Ser) c.1985T>G (p.Ile662Ser) | |
14 | g.33800275C>A | CA486092997 | NPAS3 | c.1968C>A (p.Ile656=) c.1977C>A (p.Ile659=) c.1868C>A c.793+2694C>A c.1872C>A (p.Ile624=) c.1929C>A (p.Ile643=) c.1878C>A (p.Ile626=) c.1983C>A (p.Ile661=) c.1890C>A (p.Ile630=) c.1989C>A (p.Ile663=) c.2019C>A (p.Ile673=) c.2010C>A (p.Ile670=) c.1980C>A (p.Ile660=) c.1923C>A (p.Ile641=) c.1869C>A (p.Ile623=) c.1662C>A (p.Ile554=) c.2076C>A (p.Ile692=) c.2070C>A (p.Ile690=) c.2067C>A (p.Ile689=) c.2127C>A (p.Ile709=) c.2118C>A (p.Ile706=) c.2037C>A (p.Ile679=) c.1986C>A (p.Ile662=) | dbSNP |
14 | g.33800275C= | CA2128327203 | NPAS3 | c.1968C= (p.Ile656=) c.1977C= (p.Ile659=) c.1868C= c.793+2694C= c.1872C= (p.Ile624=) c.1929C= (p.Ile643=) c.1878C= (p.Ile626=) c.1983C= (p.Ile661=) c.1890C= (p.Ile630=) c.1989C= (p.Ile663=) c.2019C= (p.Ile673=) c.2010C= (p.Ile670=) c.1980C= (p.Ile660=) c.1923C= (p.Ile641=) c.1869C= (p.Ile623=) c.1662C= (p.Ile554=) c.2076C= (p.Ile692=) c.2070C= (p.Ile690=) c.2067C= (p.Ile689=) c.2127C= (p.Ile709=) c.2118C= (p.Ile706=) c.2037C= (p.Ile679=) c.1986C= (p.Ile662=) | |
14 | g.33800275C>G | CA389413309 | NPAS3 | c.1968C>G (p.Ile656Met) c.1977C>G (p.Ile659Met) c.1868C>G c.793+2694C>G c.1872C>G (p.Ile624Met) c.1929C>G (p.Ile643Met) c.1878C>G (p.Ile626Met) c.1983C>G (p.Ile661Met) c.1890C>G (p.Ile630Met) c.1989C>G (p.Ile663Met) c.2019C>G (p.Ile673Met) c.2010C>G (p.Ile670Met) c.1980C>G (p.Ile660Met) c.1923C>G (p.Ile641Met) c.1869C>G (p.Ile623Met) c.1662C>G (p.Ile554Met) c.2076C>G (p.Ile692Met) c.2070C>G (p.Ile690Met) c.2067C>G (p.Ile689Met) c.2127C>G (p.Ile709Met) c.2118C>G (p.Ile706Met) c.2037C>G (p.Ile679Met) c.1986C>G (p.Ile662Met) | |
14 | g.33800275C>T | CA486092998 | NPAS3 | c.1968C>T (p.Ile656=) c.1977C>T (p.Ile659=) c.1868C>T c.793+2694C>T c.1872C>T (p.Ile624=) c.1929C>T (p.Ile643=) c.1878C>T (p.Ile626=) c.1983C>T (p.Ile661=) c.1890C>T (p.Ile630=) c.1989C>T (p.Ile663=) c.2019C>T (p.Ile673=) c.2010C>T (p.Ile670=) c.1980C>T (p.Ile660=) c.1923C>T (p.Ile641=) c.1869C>T (p.Ile623=) c.1662C>T (p.Ile554=) c.2076C>T (p.Ile692=) c.2070C>T (p.Ile690=) c.2067C>T (p.Ile689=) c.2127C>T (p.Ile709=) c.2118C>T (p.Ile706=) c.2037C>T (p.Ile679=) c.1986C>T (p.Ile662=) | |
14 | g.33800276A>C | CA389413311 | NPAS3 | c.1969A>C (p.Asn657His) c.1978A>C (p.Asn660His) c.1869A>C c.793+2695A>C c.1873A>C (p.Asn625His) c.1930A>C (p.Asn644His) c.1879A>C (p.Asn627His) c.1984A>C (p.Asn662His) c.1891A>C (p.Asn631His) c.1990A>C (p.Asn664His) c.2020A>C (p.Asn674His) c.2011A>C (p.Asn671His) c.1981A>C (p.Asn661His) c.1924A>C (p.Asn642His) c.1870A>C (p.Asn624His) c.1663A>C (p.Asn555His) c.2077A>C (p.Asn693His) c.2071A>C (p.Asn691His) c.2068A>C (p.Asn690His) c.2128A>C (p.Asn710His) c.2119A>C (p.Asn707His) c.2038A>C (p.Asn680His) c.1987A>C (p.Asn663His) | |
14 | g.33800276A>G | CA389413313 | NPAS3 | c.1969A>G (p.Asn657Asp) c.1978A>G (p.Asn660Asp) c.1869A>G c.793+2695A>G c.1873A>G (p.Asn625Asp) c.1930A>G (p.Asn644Asp) c.1879A>G (p.Asn627Asp) c.1984A>G (p.Asn662Asp) c.1891A>G (p.Asn631Asp) c.1990A>G (p.Asn664Asp) c.2020A>G (p.Asn674Asp) c.2011A>G (p.Asn671Asp) c.1981A>G (p.Asn661Asp) c.1924A>G (p.Asn642Asp) c.1870A>G (p.Asn624Asp) c.1663A>G (p.Asn555Asp) c.2077A>G (p.Asn693Asp) c.2071A>G (p.Asn691Asp) c.2068A>G (p.Asn690Asp) c.2128A>G (p.Asn710Asp) c.2119A>G (p.Asn707Asp) c.2038A>G (p.Asn680Asp) c.1987A>G (p.Asn663Asp) | |
14 | g.33800276A>T | CA389413315 | NPAS3 | c.1969A>T (p.Asn657Tyr) c.1978A>T (p.Asn660Tyr) c.1869A>T c.793+2695A>T c.1873A>T (p.Asn625Tyr) c.1930A>T (p.Asn644Tyr) c.1879A>T (p.Asn627Tyr) c.1984A>T (p.Asn662Tyr) c.1891A>T (p.Asn631Tyr) c.1990A>T (p.Asn664Tyr) c.2020A>T (p.Asn674Tyr) c.2011A>T (p.Asn671Tyr) c.1981A>T (p.Asn661Tyr) c.1924A>T (p.Asn642Tyr) c.1870A>T (p.Asn624Tyr) c.1663A>T (p.Asn555Tyr) c.2077A>T (p.Asn693Tyr) c.2071A>T (p.Asn691Tyr) c.2068A>T (p.Asn690Tyr) c.2128A>T (p.Asn710Tyr) c.2119A>T (p.Asn707Tyr) c.2038A>T (p.Asn680Tyr) c.1987A>T (p.Asn663Tyr) | |
14 | g.33800277A>C | CA389413317 | NPAS3 | c.1970A>C (p.Asn657Thr) c.1979A>C (p.Asn660Thr) c.1870A>C c.793+2696A>C c.1874A>C (p.Asn625Thr) c.1931A>C (p.Asn644Thr) c.1880A>C (p.Asn627Thr) c.1985A>C (p.Asn662Thr) c.1892A>C (p.Asn631Thr) c.1991A>C (p.Asn664Thr) c.2021A>C (p.Asn674Thr) c.2012A>C (p.Asn671Thr) c.1982A>C (p.Asn661Thr) c.1925A>C (p.Asn642Thr) c.1871A>C (p.Asn624Thr) c.1664A>C (p.Asn555Thr) c.2078A>C (p.Asn693Thr) c.2072A>C (p.Asn691Thr) c.2069A>C (p.Asn690Thr) c.2129A>C (p.Asn710Thr) c.2120A>C (p.Asn707Thr) c.2039A>C (p.Asn680Thr) c.1988A>C (p.Asn663Thr) | |
14 | g.33800277A>G | CA389413319 | NPAS3 | c.1970A>G (p.Asn657Ser) c.1979A>G (p.Asn660Ser) c.1870A>G c.793+2696A>G c.1874A>G (p.Asn625Ser) c.1931A>G (p.Asn644Ser) c.1880A>G (p.Asn627Ser) c.1985A>G (p.Asn662Ser) c.1892A>G (p.Asn631Ser) c.1991A>G (p.Asn664Ser) c.2021A>G (p.Asn674Ser) c.2012A>G (p.Asn671Ser) c.1982A>G (p.Asn661Ser) c.1925A>G (p.Asn642Ser) c.1871A>G (p.Asn624Ser) c.1664A>G (p.Asn555Ser) c.2078A>G (p.Asn693Ser) c.2072A>G (p.Asn691Ser) c.2069A>G (p.Asn690Ser) c.2129A>G (p.Asn710Ser) c.2120A>G (p.Asn707Ser) c.2039A>G (p.Asn680Ser) c.1988A>G (p.Asn663Ser) | gnomAD v4 |
14 | g.33800277A>T | CA389413321 | NPAS3 | c.1970A>T (p.Asn657Ile) c.1979A>T (p.Asn660Ile) c.1870A>T c.793+2696A>T c.1874A>T (p.Asn625Ile) c.1931A>T (p.Asn644Ile) c.1880A>T (p.Asn627Ile) c.1985A>T (p.Asn662Ile) c.1892A>T (p.Asn631Ile) c.1991A>T (p.Asn664Ile) c.2021A>T (p.Asn674Ile) c.2012A>T (p.Asn671Ile) c.1982A>T (p.Asn661Ile) c.1925A>T (p.Asn642Ile) c.1871A>T (p.Asn624Ile) c.1664A>T (p.Asn555Ile) c.2078A>T (p.Asn693Ile) c.2072A>T (p.Asn691Ile) c.2069A>T (p.Asn690Ile) c.2129A>T (p.Asn710Ile) c.2120A>T (p.Asn707Ile) c.2039A>T (p.Asn680Ile) c.1988A>T (p.Asn663Ile) | |
14 | g.33800278T>A | CA389413323 | NPAS3 | c.1971T>A (p.Asn657Lys) c.1980T>A (p.Asn660Lys) c.1871T>A c.793+2697T>A c.1875T>A (p.Asn625Lys) c.1932T>A (p.Asn644Lys) c.1881T>A (p.Asn627Lys) c.1986T>A (p.Asn662Lys) c.1893T>A (p.Asn631Lys) c.1992T>A (p.Asn664Lys) c.2022T>A (p.Asn674Lys) c.2013T>A (p.Asn671Lys) c.1983T>A (p.Asn661Lys) c.1926T>A (p.Asn642Lys) c.1872T>A (p.Asn624Lys) c.1665T>A (p.Asn555Lys) c.2079T>A (p.Asn693Lys) c.2073T>A (p.Asn691Lys) c.2070T>A (p.Asn690Lys) c.2130T>A (p.Asn710Lys) c.2121T>A (p.Asn707Lys) c.2040T>A (p.Asn680Lys) c.1989T>A (p.Asn663Lys) | |
14 | g.33800278T>C | CA486092999 | NPAS3 | c.1971T>C (p.Asn657=) c.1980T>C (p.Asn660=) c.1871T>C c.793+2697T>C c.1875T>C (p.Asn625=) c.1932T>C (p.Asn644=) c.1881T>C (p.Asn627=) c.1986T>C (p.Asn662=) c.1893T>C (p.Asn631=) c.1992T>C (p.Asn664=) c.2022T>C (p.Asn674=) c.2013T>C (p.Asn671=) c.1983T>C (p.Asn661=) c.1926T>C (p.Asn642=) c.1872T>C (p.Asn624=) c.1665T>C (p.Asn555=) c.2079T>C (p.Asn693=) c.2073T>C (p.Asn691=) c.2070T>C (p.Asn690=) c.2130T>C (p.Asn710=) c.2121T>C (p.Asn707=) c.2040T>C (p.Asn680=) c.1989T>C (p.Asn663=) | |
14 | g.33800278T>G | CA389413325 | NPAS3 | c.1971T>G (p.Asn657Lys) c.1980T>G (p.Asn660Lys) c.1871T>G c.793+2697T>G c.1875T>G (p.Asn625Lys) c.1932T>G (p.Asn644Lys) c.1881T>G (p.Asn627Lys) c.1986T>G (p.Asn662Lys) c.1893T>G (p.Asn631Lys) c.1992T>G (p.Asn664Lys) c.2022T>G (p.Asn674Lys) c.2013T>G (p.Asn671Lys) c.1983T>G (p.Asn661Lys) c.1926T>G (p.Asn642Lys) c.1872T>G (p.Asn624Lys) c.1665T>G (p.Asn555Lys) c.2079T>G (p.Asn693Lys) c.2073T>G (p.Asn691Lys) c.2070T>G (p.Asn690Lys) c.2130T>G (p.Asn710Lys) c.2121T>G (p.Asn707Lys) c.2040T>G (p.Asn680Lys) c.1989T>G (p.Asn663Lys) | |
14 | g.33800279T>A | CA389413327 | NPAS3 | c.1972T>A (p.Phe658Ile) c.1981T>A (p.Phe661Ile) c.1872T>A c.793+2698T>A c.1876T>A (p.Phe626Ile) c.1933T>A (p.Phe645Ile) c.1882T>A (p.Phe628Ile) c.1987T>A (p.Phe663Ile) c.1894T>A (p.Phe632Ile) c.1993T>A (p.Phe665Ile) c.2023T>A (p.Phe675Ile) c.2014T>A (p.Phe672Ile) c.1984T>A (p.Phe662Ile) c.1927T>A (p.Phe643Ile) c.1873T>A (p.Phe625Ile) c.1666T>A (p.Phe556Ile) c.2080T>A (p.Phe694Ile) c.2074T>A (p.Phe692Ile) c.2071T>A (p.Phe691Ile) c.2131T>A (p.Phe711Ile) c.2122T>A (p.Phe708Ile) c.2041T>A (p.Phe681Ile) c.1990T>A (p.Phe664Ile) | |
14 | g.33800279T>C | CA389413328 | NPAS3 | c.1972T>C (p.Phe658Leu) c.1981T>C (p.Phe661Leu) c.1872T>C c.793+2698T>C c.1876T>C (p.Phe626Leu) c.1933T>C (p.Phe645Leu) c.1882T>C (p.Phe628Leu) c.1987T>C (p.Phe663Leu) c.1894T>C (p.Phe632Leu) c.1993T>C (p.Phe665Leu) c.2023T>C (p.Phe675Leu) c.2014T>C (p.Phe672Leu) c.1984T>C (p.Phe662Leu) c.1927T>C (p.Phe643Leu) c.1873T>C (p.Phe625Leu) c.1666T>C (p.Phe556Leu) c.2080T>C (p.Phe694Leu) c.2074T>C (p.Phe692Leu) c.2071T>C (p.Phe691Leu) c.2131T>C (p.Phe711Leu) c.2122T>C (p.Phe708Leu) c.2041T>C (p.Phe681Leu) c.1990T>C (p.Phe664Leu) | |
14 | g.33800279T>G | CA389413329 | NPAS3 | c.1972T>G (p.Phe658Val) c.1981T>G (p.Phe661Val) c.1872T>G c.793+2698T>G c.1876T>G (p.Phe626Val) c.1933T>G (p.Phe645Val) c.1882T>G (p.Phe628Val) c.1987T>G (p.Phe663Val) c.1894T>G (p.Phe632Val) c.1993T>G (p.Phe665Val) c.2023T>G (p.Phe675Val) c.2014T>G (p.Phe672Val) c.1984T>G (p.Phe662Val) c.1927T>G (p.Phe643Val) c.1873T>G (p.Phe625Val) c.1666T>G (p.Phe556Val) c.2080T>G (p.Phe694Val) c.2074T>G (p.Phe692Val) c.2071T>G (p.Phe691Val) c.2131T>G (p.Phe711Val) c.2122T>G (p.Phe708Val) c.2041T>G (p.Phe681Val) c.1990T>G (p.Phe664Val) | COSMIC COSMIC COSMIC |
14 | g.33800280T>A | CA389413336 | NPAS3 | c.1973T>A (p.Phe658Tyr) c.1982T>A (p.Phe661Tyr) c.1873T>A c.793+2699T>A c.1877T>A (p.Phe626Tyr) c.1934T>A (p.Phe645Tyr) c.1883T>A (p.Phe628Tyr) c.1988T>A (p.Phe663Tyr) c.1895T>A (p.Phe632Tyr) c.1994T>A (p.Phe665Tyr) c.2024T>A (p.Phe675Tyr) c.2015T>A (p.Phe672Tyr) c.1985T>A (p.Phe662Tyr) c.1928T>A (p.Phe643Tyr) c.1874T>A (p.Phe625Tyr) c.1667T>A (p.Phe556Tyr) c.2081T>A (p.Phe694Tyr) c.2075T>A (p.Phe692Tyr) c.2072T>A (p.Phe691Tyr) c.2132T>A (p.Phe711Tyr) c.2123T>A (p.Phe708Tyr) c.2042T>A (p.Phe681Tyr) c.1991T>A (p.Phe664Tyr) | |
14 | g.33800280T>C | CA389413334 | NPAS3 | c.1973T>C (p.Phe658Ser) c.1982T>C (p.Phe661Ser) c.1873T>C c.793+2699T>C c.1877T>C (p.Phe626Ser) c.1934T>C (p.Phe645Ser) c.1883T>C (p.Phe628Ser) c.1988T>C (p.Phe663Ser) c.1895T>C (p.Phe632Ser) c.1994T>C (p.Phe665Ser) c.2024T>C (p.Phe675Ser) c.2015T>C (p.Phe672Ser) c.1985T>C (p.Phe662Ser) c.1928T>C (p.Phe643Ser) c.1874T>C (p.Phe625Ser) c.1667T>C (p.Phe556Ser) c.2081T>C (p.Phe694Ser) c.2075T>C (p.Phe692Ser) c.2072T>C (p.Phe691Ser) c.2132T>C (p.Phe711Ser) c.2123T>C (p.Phe708Ser) c.2042T>C (p.Phe681Ser) c.1991T>C (p.Phe664Ser) | |
14 | g.33800280T>G | CA389413332 | NPAS3 | c.1973T>G (p.Phe658Cys) c.1982T>G (p.Phe661Cys) c.1873T>G c.793+2699T>G c.1877T>G (p.Phe626Cys) c.1934T>G (p.Phe645Cys) c.1883T>G (p.Phe628Cys) c.1988T>G (p.Phe663Cys) c.1895T>G (p.Phe632Cys) c.1994T>G (p.Phe665Cys) c.2024T>G (p.Phe675Cys) c.2015T>G (p.Phe672Cys) c.1985T>G (p.Phe662Cys) c.1928T>G (p.Phe643Cys) c.1874T>G (p.Phe625Cys) c.1667T>G (p.Phe556Cys) c.2081T>G (p.Phe694Cys) c.2075T>G (p.Phe692Cys) c.2072T>G (p.Phe691Cys) c.2132T>G (p.Phe711Cys) c.2123T>G (p.Phe708Cys) c.2042T>G (p.Phe681Cys) c.1991T>G (p.Phe664Cys) | |
14 | g.33800281C>A | CA389413338 | NPAS3 | c.1974C>A (p.Phe658Leu) c.1983C>A (p.Phe661Leu) c.1874C>A c.793+2700C>A c.1878C>A (p.Phe626Leu) c.1935C>A (p.Phe645Leu) c.1884C>A (p.Phe628Leu) c.1989C>A (p.Phe663Leu) c.1896C>A (p.Phe632Leu) c.1995C>A (p.Phe665Leu) c.2025C>A (p.Phe675Leu) c.2016C>A (p.Phe672Leu) c.1986C>A (p.Phe662Leu) c.1929C>A (p.Phe643Leu) c.1875C>A (p.Phe625Leu) c.1668C>A (p.Phe556Leu) c.2082C>A (p.Phe694Leu) c.2076C>A (p.Phe692Leu) c.2073C>A (p.Phe691Leu) c.2133C>A (p.Phe711Leu) c.2124C>A (p.Phe708Leu) c.2043C>A (p.Phe681Leu) c.1992C>A (p.Phe664Leu) | |
14 | g.33800281C= | CA2128327207 | NPAS3 | c.1974C= (p.Phe658=) c.1983C= (p.Phe661=) c.1874C= c.793+2700C= c.1878C= (p.Phe626=) c.1935C= (p.Phe645=) c.1884C= (p.Phe628=) c.1989C= (p.Phe663=) c.1896C= (p.Phe632=) c.1995C= (p.Phe665=) c.2025C= (p.Phe675=) c.2016C= (p.Phe672=) c.1986C= (p.Phe662=) c.1929C= (p.Phe643=) c.1875C= (p.Phe625=) c.1668C= (p.Phe556=) c.2082C= (p.Phe694=) c.2076C= (p.Phe692=) c.2073C= (p.Phe691=) c.2133C= (p.Phe711=) c.2124C= (p.Phe708=) c.2043C= (p.Phe681=) c.1992C= (p.Phe664=) | |
14 | g.33800281C>G | CA7150920 | NPAS3 | c.1974C>G (p.Phe658Leu) c.1983C>G (p.Phe661Leu) c.1874C>G c.793+2700C>G c.1878C>G (p.Phe626Leu) c.1935C>G (p.Phe645Leu) c.1884C>G (p.Phe628Leu) c.1989C>G (p.Phe663Leu) c.1896C>G (p.Phe632Leu) c.1995C>G (p.Phe665Leu) c.2025C>G (p.Phe675Leu) c.2016C>G (p.Phe672Leu) c.1986C>G (p.Phe662Leu) c.1929C>G (p.Phe643Leu) c.1875C>G (p.Phe625Leu) c.1668C>G (p.Phe556Leu) c.2082C>G (p.Phe694Leu) c.2076C>G (p.Phe692Leu) c.2073C>G (p.Phe691Leu) c.2133C>G (p.Phe711Leu) c.2124C>G (p.Phe708Leu) c.2043C>G (p.Phe681Leu) c.1992C>G (p.Phe664Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800281C>T | CA486093000 | NPAS3 | c.1974C>T (p.Phe658=) c.1983C>T (p.Phe661=) c.1874C>T c.793+2700C>T c.1878C>T (p.Phe626=) c.1935C>T (p.Phe645=) c.1884C>T (p.Phe628=) c.1989C>T (p.Phe663=) c.1896C>T (p.Phe632=) c.1995C>T (p.Phe665=) c.2025C>T (p.Phe675=) c.2016C>T (p.Phe672=) c.1986C>T (p.Phe662=) c.1929C>T (p.Phe643=) c.1875C>T (p.Phe625=) c.1668C>T (p.Phe556=) c.2082C>T (p.Phe694=) c.2076C>T (p.Phe692=) c.2073C>T (p.Phe691=) c.2133C>T (p.Phe711=) c.2124C>T (p.Phe708=) c.2043C>T (p.Phe681=) c.1992C>T (p.Phe664=) | COSMIC COSMIC COSMIC |
14 | g.33800282G>A | CA389413340 | NPAS3 | c.1975G>A (p.Asp659Asn) c.1984G>A (p.Asp662Asn) c.1875G>A c.793+2701G>A c.1879G>A (p.Asp627Asn) c.1936G>A (p.Asp646Asn) c.1885G>A (p.Asp629Asn) c.1990G>A (p.Asp664Asn) c.1897G>A (p.Asp633Asn) c.1996G>A (p.Asp666Asn) c.2026G>A (p.Asp676Asn) c.2017G>A (p.Asp673Asn) c.1987G>A (p.Asp663Asn) c.1930G>A (p.Asp644Asn) c.1876G>A (p.Asp626Asn) c.1669G>A (p.Asp557Asn) c.2083G>A (p.Asp695Asn) c.2077G>A (p.Asp693Asn) c.2074G>A (p.Asp692Asn) c.2134G>A (p.Asp712Asn) c.2125G>A (p.Asp709Asn) c.2044G>A (p.Asp682Asn) c.1993G>A (p.Asp665Asn) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800282G>C | CA389413342 | NPAS3 | c.1975G>C (p.Asp659His) c.1984G>C (p.Asp662His) c.1875G>C c.793+2701G>C c.1879G>C (p.Asp627His) c.1936G>C (p.Asp646His) c.1885G>C (p.Asp629His) c.1990G>C (p.Asp664His) c.1897G>C (p.Asp633His) c.1996G>C (p.Asp666His) c.2026G>C (p.Asp676His) c.2017G>C (p.Asp673His) c.1987G>C (p.Asp663His) c.1930G>C (p.Asp644His) c.1876G>C (p.Asp626His) c.1669G>C (p.Asp557His) c.2083G>C (p.Asp695His) c.2077G>C (p.Asp693His) c.2074G>C (p.Asp692His) c.2134G>C (p.Asp712His) c.2125G>C (p.Asp709His) c.2044G>C (p.Asp682His) c.1993G>C (p.Asp665His) | |
14 | g.33800282G= | CA2128327210 | NPAS3 | c.1975G= (p.Asp659=) c.1984G= (p.Asp662=) c.1875G= c.793+2701G= c.1879G= (p.Asp627=) c.1936G= (p.Asp646=) c.1885G= (p.Asp629=) c.1990G= (p.Asp664=) c.1897G= (p.Asp633=) c.1996G= (p.Asp666=) c.2026G= (p.Asp676=) c.2017G= (p.Asp673=) c.1987G= (p.Asp663=) c.1930G= (p.Asp644=) c.1876G= (p.Asp626=) c.1669G= (p.Asp557=) c.2083G= (p.Asp695=) c.2077G= (p.Asp693=) c.2074G= (p.Asp692=) c.2134G= (p.Asp712=) c.2125G= (p.Asp709=) c.2044G= (p.Asp682=) c.1993G= (p.Asp665=) | |
14 | g.33800282G>T | CA389413343 | NPAS3 | c.1975G>T (p.Asp659Tyr) c.1984G>T (p.Asp662Tyr) c.1875G>T c.793+2701G>T c.1879G>T (p.Asp627Tyr) c.1936G>T (p.Asp646Tyr) c.1885G>T (p.Asp629Tyr) c.1990G>T (p.Asp664Tyr) c.1897G>T (p.Asp633Tyr) c.1996G>T (p.Asp666Tyr) c.2026G>T (p.Asp676Tyr) c.2017G>T (p.Asp673Tyr) c.1987G>T (p.Asp663Tyr) c.1930G>T (p.Asp644Tyr) c.1876G>T (p.Asp626Tyr) c.1669G>T (p.Asp557Tyr) c.2083G>T (p.Asp695Tyr) c.2077G>T (p.Asp693Tyr) c.2074G>T (p.Asp692Tyr) c.2134G>T (p.Asp712Tyr) c.2125G>T (p.Asp709Tyr) c.2044G>T (p.Asp682Tyr) c.1993G>T (p.Asp665Tyr) | |
14 | g.33800283A= | CA2128327212 | NPAS3 | c.1976A= (p.Asp659=) c.1985A= (p.Asp662=) c.1876A= c.793+2702A= c.1880A= (p.Asp627=) c.1937A= (p.Asp646=) c.1886A= (p.Asp629=) c.1991A= (p.Asp664=) c.1898A= (p.Asp633=) c.1997A= (p.Asp666=) c.2027A= (p.Asp676=) c.2018A= (p.Asp673=) c.1988A= (p.Asp663=) c.1931A= (p.Asp644=) c.1877A= (p.Asp626=) c.1670A= (p.Asp557=) c.2084A= (p.Asp695=) c.2078A= (p.Asp693=) c.2075A= (p.Asp692=) c.2135A= (p.Asp712=) c.2126A= (p.Asp709=) c.2045A= (p.Asp682=) c.1994A= (p.Asp665=) | |
14 | g.33800283A>C | CA389413346 | NPAS3 | c.1976A>C (p.Asp659Ala) c.1985A>C (p.Asp662Ala) c.1876A>C c.793+2702A>C c.1880A>C (p.Asp627Ala) c.1937A>C (p.Asp646Ala) c.1886A>C (p.Asp629Ala) c.1991A>C (p.Asp664Ala) c.1898A>C (p.Asp633Ala) c.1997A>C (p.Asp666Ala) c.2027A>C (p.Asp676Ala) c.2018A>C (p.Asp673Ala) c.1988A>C (p.Asp663Ala) c.1931A>C (p.Asp644Ala) c.1877A>C (p.Asp626Ala) c.1670A>C (p.Asp557Ala) c.2084A>C (p.Asp695Ala) c.2078A>C (p.Asp693Ala) c.2075A>C (p.Asp692Ala) c.2135A>C (p.Asp712Ala) c.2126A>C (p.Asp709Ala) c.2045A>C (p.Asp682Ala) c.1994A>C (p.Asp665Ala) | |
14 | g.33800283A>G | CA389413347 | NPAS3 | c.1976A>G (p.Asp659Gly) c.1985A>G (p.Asp662Gly) c.1876A>G c.793+2702A>G c.1880A>G (p.Asp627Gly) c.1937A>G (p.Asp646Gly) c.1886A>G (p.Asp629Gly) c.1991A>G (p.Asp664Gly) c.1898A>G (p.Asp633Gly) c.1997A>G (p.Asp666Gly) c.2027A>G (p.Asp676Gly) c.2018A>G (p.Asp673Gly) c.1988A>G (p.Asp663Gly) c.1931A>G (p.Asp644Gly) c.1877A>G (p.Asp626Gly) c.1670A>G (p.Asp557Gly) c.2084A>G (p.Asp695Gly) c.2078A>G (p.Asp693Gly) c.2075A>G (p.Asp692Gly) c.2135A>G (p.Asp712Gly) c.2126A>G (p.Asp709Gly) c.2045A>G (p.Asp682Gly) c.1994A>G (p.Asp665Gly) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800283A>T | CA389413349 | NPAS3 | c.1976A>T (p.Asp659Val) c.1985A>T (p.Asp662Val) c.1876A>T c.793+2702A>T c.1880A>T (p.Asp627Val) c.1937A>T (p.Asp646Val) c.1886A>T (p.Asp629Val) c.1991A>T (p.Asp664Val) c.1898A>T (p.Asp633Val) c.1997A>T (p.Asp666Val) c.2027A>T (p.Asp676Val) c.2018A>T (p.Asp673Val) c.1988A>T (p.Asp663Val) c.1931A>T (p.Asp644Val) c.1877A>T (p.Asp626Val) c.1670A>T (p.Asp557Val) c.2084A>T (p.Asp695Val) c.2078A>T (p.Asp693Val) c.2075A>T (p.Asp692Val) c.2135A>T (p.Asp712Val) c.2126A>T (p.Asp709Val) c.2045A>T (p.Asp682Val) c.1994A>T (p.Asp665Val) | |
14 | g.33800284C>A | CA389413351 | NPAS3 | c.1977C>A (p.Asp659Glu) c.1986C>A (p.Asp662Glu) c.1877C>A c.793+2703C>A c.1881C>A (p.Asp627Glu) c.1938C>A (p.Asp646Glu) c.1887C>A (p.Asp629Glu) c.1992C>A (p.Asp664Glu) c.1899C>A (p.Asp633Glu) c.1998C>A (p.Asp666Glu) c.2028C>A (p.Asp676Glu) c.2019C>A (p.Asp673Glu) c.1989C>A (p.Asp663Glu) c.1932C>A (p.Asp644Glu) c.1878C>A (p.Asp626Glu) c.1671C>A (p.Asp557Glu) c.2085C>A (p.Asp695Glu) c.2079C>A (p.Asp693Glu) c.2076C>A (p.Asp692Glu) c.2136C>A (p.Asp712Glu) c.2127C>A (p.Asp709Glu) c.2046C>A (p.Asp682Glu) c.1995C>A (p.Asp665Glu) | |
14 | g.33800284C= | CA2128327214 | NPAS3 | c.1977C= (p.Asp659=) c.1986C= (p.Asp662=) c.1877C= c.793+2703C= c.1881C= (p.Asp627=) c.1938C= (p.Asp646=) c.1887C= (p.Asp629=) c.1992C= (p.Asp664=) c.1899C= (p.Asp633=) c.1998C= (p.Asp666=) c.2028C= (p.Asp676=) c.2019C= (p.Asp673=) c.1989C= (p.Asp663=) c.1932C= (p.Asp644=) c.1878C= (p.Asp626=) c.1671C= (p.Asp557=) c.2085C= (p.Asp695=) c.2079C= (p.Asp693=) c.2076C= (p.Asp692=) c.2136C= (p.Asp712=) c.2127C= (p.Asp709=) c.2046C= (p.Asp682=) c.1995C= (p.Asp665=) | |
14 | g.33800284C>G | CA389413352 | NPAS3 | c.1977C>G (p.Asp659Glu) c.1986C>G (p.Asp662Glu) c.1877C>G c.793+2703C>G c.1881C>G (p.Asp627Glu) c.1938C>G (p.Asp646Glu) c.1887C>G (p.Asp629Glu) c.1992C>G (p.Asp664Glu) c.1899C>G (p.Asp633Glu) c.1998C>G (p.Asp666Glu) c.2028C>G (p.Asp676Glu) c.2019C>G (p.Asp673Glu) c.1989C>G (p.Asp663Glu) c.1932C>G (p.Asp644Glu) c.1878C>G (p.Asp626Glu) c.1671C>G (p.Asp557Glu) c.2085C>G (p.Asp695Glu) c.2079C>G (p.Asp693Glu) c.2076C>G (p.Asp692Glu) c.2136C>G (p.Asp712Glu) c.2127C>G (p.Asp709Glu) c.2046C>G (p.Asp682Glu) c.1995C>G (p.Asp665Glu) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800284C>T | CA486093001 | NPAS3 | c.1977C>T (p.Asp659=) c.1986C>T (p.Asp662=) c.1877C>T c.793+2703C>T c.1881C>T (p.Asp627=) c.1938C>T (p.Asp646=) c.1887C>T (p.Asp629=) c.1992C>T (p.Asp664=) c.1899C>T (p.Asp633=) c.1998C>T (p.Asp666=) c.2028C>T (p.Asp676=) c.2019C>T (p.Asp673=) c.1989C>T (p.Asp663=) c.1932C>T (p.Asp644=) c.1878C>T (p.Asp626=) c.1671C>T (p.Asp557=) c.2085C>T (p.Asp695=) c.2079C>T (p.Asp693=) c.2076C>T (p.Asp692=) c.2136C>T (p.Asp712=) c.2127C>T (p.Asp709=) c.2046C>T (p.Asp682=) c.1995C>T (p.Asp665=) | |
14 | g.33800285A>C | CA389413354 | NPAS3 | c.1978A>C (p.Asn660His) c.1987A>C (p.Asn663His) c.1878A>C c.793+2704A>C c.1882A>C (p.Asn628His) c.1939A>C (p.Asn647His) c.1888A>C (p.Asn630His) c.1993A>C (p.Asn665His) c.1900A>C (p.Asn634His) c.1999A>C (p.Asn667His) c.2029A>C (p.Asn677His) c.2020A>C (p.Asn674His) c.1990A>C (p.Asn664His) c.1933A>C (p.Asn645His) c.1879A>C (p.Asn627His) c.1672A>C (p.Asn558His) c.2086A>C (p.Asn696His) c.2080A>C (p.Asn694His) c.2077A>C (p.Asn693His) c.2137A>C (p.Asn713His) c.2128A>C (p.Asn710His) c.2047A>C (p.Asn683His) c.1996A>C (p.Asn666His) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800285A>G | CA389413356 | NPAS3 | c.1978A>G (p.Asn660Asp) c.1987A>G (p.Asn663Asp) c.1878A>G c.793+2704A>G c.1882A>G (p.Asn628Asp) c.1939A>G (p.Asn647Asp) c.1888A>G (p.Asn630Asp) c.1993A>G (p.Asn665Asp) c.1900A>G (p.Asn634Asp) c.1999A>G (p.Asn667Asp) c.2029A>G (p.Asn677Asp) c.2020A>G (p.Asn674Asp) c.1990A>G (p.Asn664Asp) c.1933A>G (p.Asn645Asp) c.1879A>G (p.Asn627Asp) c.1672A>G (p.Asn558Asp) c.2086A>G (p.Asn696Asp) c.2080A>G (p.Asn694Asp) c.2077A>G (p.Asn693Asp) c.2137A>G (p.Asn713Asp) c.2128A>G (p.Asn710Asp) c.2047A>G (p.Asn683Asp) c.1996A>G (p.Asn666Asp) | |
14 | g.33800285A>T | CA389413358 | NPAS3 | c.1978A>T (p.Asn660Tyr) c.1987A>T (p.Asn663Tyr) c.1878A>T c.793+2704A>T c.1882A>T (p.Asn628Tyr) c.1939A>T (p.Asn647Tyr) c.1888A>T (p.Asn630Tyr) c.1993A>T (p.Asn665Tyr) c.1900A>T (p.Asn634Tyr) c.1999A>T (p.Asn667Tyr) c.2029A>T (p.Asn677Tyr) c.2020A>T (p.Asn674Tyr) c.1990A>T (p.Asn664Tyr) c.1933A>T (p.Asn645Tyr) c.1879A>T (p.Asn627Tyr) c.1672A>T (p.Asn558Tyr) c.2086A>T (p.Asn696Tyr) c.2080A>T (p.Asn694Tyr) c.2077A>T (p.Asn693Tyr) c.2137A>T (p.Asn713Tyr) c.2128A>T (p.Asn710Tyr) c.2047A>T (p.Asn683Tyr) c.1996A>T (p.Asn666Tyr) | |
14 | g.33800286A>C | CA389413362 | NPAS3 | c.1979A>C (p.Asn660Thr) c.1988A>C (p.Asn663Thr) c.1879A>C c.793+2705A>C c.1883A>C (p.Asn628Thr) c.1940A>C (p.Asn647Thr) c.1889A>C (p.Asn630Thr) c.1994A>C (p.Asn665Thr) c.1901A>C (p.Asn634Thr) c.2000A>C (p.Asn667Thr) c.2030A>C (p.Asn677Thr) c.2021A>C (p.Asn674Thr) c.1991A>C (p.Asn664Thr) c.1934A>C (p.Asn645Thr) c.1880A>C (p.Asn627Thr) c.1673A>C (p.Asn558Thr) c.2087A>C (p.Asn696Thr) c.2081A>C (p.Asn694Thr) c.2078A>C (p.Asn693Thr) c.2138A>C (p.Asn713Thr) c.2129A>C (p.Asn710Thr) c.2048A>C (p.Asn683Thr) c.1997A>C (p.Asn666Thr) | |
14 | g.33800286A>G | CA389413364 | NPAS3 | c.1979A>G (p.Asn660Ser) c.1988A>G (p.Asn663Ser) c.1879A>G c.793+2705A>G c.1883A>G (p.Asn628Ser) c.1940A>G (p.Asn647Ser) c.1889A>G (p.Asn630Ser) c.1994A>G (p.Asn665Ser) c.1901A>G (p.Asn634Ser) c.2000A>G (p.Asn667Ser) c.2030A>G (p.Asn677Ser) c.2021A>G (p.Asn674Ser) c.1991A>G (p.Asn664Ser) c.1934A>G (p.Asn645Ser) c.1880A>G (p.Asn627Ser) c.1673A>G (p.Asn558Ser) c.2087A>G (p.Asn696Ser) c.2081A>G (p.Asn694Ser) c.2078A>G (p.Asn693Ser) c.2138A>G (p.Asn713Ser) c.2129A>G (p.Asn710Ser) c.2048A>G (p.Asn683Ser) c.1997A>G (p.Asn666Ser) | |
14 | g.33800286A>T | CA389413360 | NPAS3 | c.1979A>T (p.Asn660Ile) c.1988A>T (p.Asn663Ile) c.1879A>T c.793+2705A>T c.1883A>T (p.Asn628Ile) c.1940A>T (p.Asn647Ile) c.1889A>T (p.Asn630Ile) c.1994A>T (p.Asn665Ile) c.1901A>T (p.Asn634Ile) c.2000A>T (p.Asn667Ile) c.2030A>T (p.Asn677Ile) c.2021A>T (p.Asn674Ile) c.1991A>T (p.Asn664Ile) c.1934A>T (p.Asn645Ile) c.1880A>T (p.Asn627Ile) c.1673A>T (p.Asn558Ile) c.2087A>T (p.Asn696Ile) c.2081A>T (p.Asn694Ile) c.2078A>T (p.Asn693Ile) c.2138A>T (p.Asn713Ile) c.2129A>T (p.Asn710Ile) c.2048A>T (p.Asn683Ile) c.1997A>T (p.Asn666Ile) | |
14 | g.33800286_33800290delinsATGAC | CA2128327218 | NPAS3 | c.1979_1983delinsATGAC (p.Asn660=) c.1988_1992delinsATGAC (p.Asn663=) c.1879_1883delinsATGAC c.793+2705_793+2709delinsATGAC c.1883_1887delinsATGAC (p.Asn628=) c.1940_1944delinsATGAC (p.Asn647=) c.1889_1893delinsATGAC (p.Asn630=) c.1994_1998delinsATGAC (p.Asn665=) c.1901_1905delinsATGAC (p.Asn634=) c.2000_2004delinsATGAC (p.Asn667=) c.2030_2034delinsATGAC (p.Asn677=) c.2021_2025delinsATGAC (p.Asn674=) c.1991_1995delinsATGAC (p.Asn664=) c.1934_1938delinsATGAC (p.Asn645=) c.1880_1884delinsATGAC (p.Asn627=) c.1673_1677delinsATGAC (p.Asn558=) c.2087_2091delinsATGAC (p.Asn696=) c.2081_2085delinsATGAC (p.Asn694=) c.2078_2082delinsATGAC (p.Asn693=) c.2138_2142delinsATGAC (p.Asn713=) c.2129_2133delinsATGAC (p.Asn710=) c.2048_2052delinsATGAC (p.Asn683=) c.1997_2001delinsATGAC (p.Asn666=) | |
14 | g.33800287T>A | CA389413366 | NPAS3 | c.1980T>A (p.Asn660Lys) c.1989T>A (p.Asn663Lys) c.1880T>A c.793+2706T>A c.1884T>A (p.Asn628Lys) c.1941T>A (p.Asn647Lys) c.1890T>A (p.Asn630Lys) c.1995T>A (p.Asn665Lys) c.1902T>A (p.Asn634Lys) c.2001T>A (p.Asn667Lys) c.2031T>A (p.Asn677Lys) c.2022T>A (p.Asn674Lys) c.1992T>A (p.Asn664Lys) c.1935T>A (p.Asn645Lys) c.1881T>A (p.Asn627Lys) c.1674T>A (p.Asn558Lys) c.2088T>A (p.Asn696Lys) c.2082T>A (p.Asn694Lys) c.2079T>A (p.Asn693Lys) c.2139T>A (p.Asn713Lys) c.2130T>A (p.Asn710Lys) c.2049T>A (p.Asn683Lys) c.1998T>A (p.Asn666Lys) | dbSNP |
14 | g.33800287T>C | CA486093002 | NPAS3 | c.1980T>C (p.Asn660=) c.1989T>C (p.Asn663=) c.1880T>C c.793+2706T>C c.1884T>C (p.Asn628=) c.1941T>C (p.Asn647=) c.1890T>C (p.Asn630=) c.1995T>C (p.Asn665=) c.1902T>C (p.Asn634=) c.2001T>C (p.Asn667=) c.2031T>C (p.Asn677=) c.2022T>C (p.Asn674=) c.1992T>C (p.Asn664=) c.1935T>C (p.Asn645=) c.1881T>C (p.Asn627=) c.1674T>C (p.Asn558=) c.2088T>C (p.Asn696=) c.2082T>C (p.Asn694=) c.2079T>C (p.Asn693=) c.2139T>C (p.Asn713=) c.2130T>C (p.Asn710=) c.2049T>C (p.Asn683=) c.1998T>C (p.Asn666=) | dbSNP gnomAD v4 |
14 | g.33800287T>G | CA389413368 | NPAS3 | c.1980T>G (p.Asn660Lys) c.1989T>G (p.Asn663Lys) c.1880T>G c.793+2706T>G c.1884T>G (p.Asn628Lys) c.1941T>G (p.Asn647Lys) c.1890T>G (p.Asn630Lys) c.1995T>G (p.Asn665Lys) c.1902T>G (p.Asn634Lys) c.2001T>G (p.Asn667Lys) c.2031T>G (p.Asn677Lys) c.2022T>G (p.Asn674Lys) c.1992T>G (p.Asn664Lys) c.1935T>G (p.Asn645Lys) c.1881T>G (p.Asn627Lys) c.1674T>G (p.Asn558Lys) c.2088T>G (p.Asn696Lys) c.2082T>G (p.Asn694Lys) c.2079T>G (p.Asn693Lys) c.2139T>G (p.Asn713Lys) c.2130T>G (p.Asn710Lys) c.2049T>G (p.Asn683Lys) c.1998T>G (p.Asn666Lys) | |
14 | g.33800287T= | CA2128327220 | NPAS3 | c.1980T= (p.Asn660=) c.1989T= (p.Asn663=) c.1880T= c.793+2706T= c.1884T= (p.Asn628=) c.1941T= (p.Asn647=) c.1890T= (p.Asn630=) c.1995T= (p.Asn665=) c.1902T= (p.Asn634=) c.2001T= (p.Asn667=) c.2031T= (p.Asn677=) c.2022T= (p.Asn674=) c.1992T= (p.Asn664=) c.1935T= (p.Asn645=) c.1881T= (p.Asn627=) c.1674T= (p.Asn558=) c.2088T= (p.Asn696=) c.2082T= (p.Asn694=) c.2079T= (p.Asn693=) c.2139T= (p.Asn713=) c.2130T= (p.Asn710=) c.2049T= (p.Asn683=) c.1998T= (p.Asn666=) | |
14 | g.33800287_33800290del | CA2128327221 | NPAS3 | c.1980_1983del (p.Asn660LysfsTer22) c.1989_1992del (p.Asn663LysfsTer22) c.1880_1883del c.793+2706_793+2709del c.1884_1887del (p.Asn628LysfsTer22) c.1941_1944del (p.Asn647LysfsTer22) c.1890_1893del (p.Asn630LysfsTer22) c.1995_1998del (p.Asn665LysfsTer22) c.1902_1905del (p.Asn634LysfsTer22) c.2001_2004del (p.Asn667LysfsTer22) c.2031_2034del (p.Asn677LysfsTer22) c.2022_2025del (p.Asn674LysfsTer22) c.1992_1995del (p.Asn664LysfsTer22) c.1935_1938del (p.Asn645LysfsTer22) c.1881_1884del (p.Asn627LysfsTer22) c.1674_1677del (p.Asn558LysfsTer22) c.2088_2091del (p.Asn696LysfsTer22) c.2082_2085del (p.Asn694LysfsTer22) c.2079_2082del (p.Asn693LysfsTer22) c.2139_2142del (p.Asn713LysfsTer22) c.2130_2133del (p.Asn710LysfsTer22) c.2049_2052del (p.Asn683LysfsTer22) c.1998_2001del (p.Asn666LysfsTer22) | dbSNP |
14 | g.33800288G>A | CA389413371 | NPAS3 | c.1981G>A (p.Asp661Asn) c.1990G>A (p.Asp664Asn) c.1881G>A c.793+2707G>A c.1885G>A (p.Asp629Asn) c.1942G>A (p.Asp648Asn) c.1891G>A (p.Asp631Asn) c.1996G>A (p.Asp666Asn) c.1903G>A (p.Asp635Asn) c.2002G>A (p.Asp668Asn) c.2032G>A (p.Asp678Asn) c.2023G>A (p.Asp675Asn) c.1993G>A (p.Asp665Asn) c.1936G>A (p.Asp646Asn) c.1882G>A (p.Asp628Asn) c.1675G>A (p.Asp559Asn) c.2089G>A (p.Asp697Asn) c.2083G>A (p.Asp695Asn) c.2080G>A (p.Asp694Asn) c.2140G>A (p.Asp714Asn) c.2131G>A (p.Asp711Asn) c.2050G>A (p.Asp684Asn) c.1999G>A (p.Asp667Asn) | |
14 | g.33800288G>C | CA389413375 | NPAS3 | c.1981G>C (p.Asp661His) c.1990G>C (p.Asp664His) c.1881G>C c.793+2707G>C c.1885G>C (p.Asp629His) c.1942G>C (p.Asp648His) c.1891G>C (p.Asp631His) c.1996G>C (p.Asp666His) c.1903G>C (p.Asp635His) c.2002G>C (p.Asp668His) c.2032G>C (p.Asp678His) c.2023G>C (p.Asp675His) c.1993G>C (p.Asp665His) c.1936G>C (p.Asp646His) c.1882G>C (p.Asp628His) c.1675G>C (p.Asp559His) c.2089G>C (p.Asp697His) c.2083G>C (p.Asp695His) c.2080G>C (p.Asp694His) c.2140G>C (p.Asp714His) c.2131G>C (p.Asp711His) c.2050G>C (p.Asp684His) c.1999G>C (p.Asp667His) | |
14 | g.33800288G>T | CA389413372 | NPAS3 | c.1981G>T (p.Asp661Tyr) c.1990G>T (p.Asp664Tyr) c.1881G>T c.793+2707G>T c.1885G>T (p.Asp629Tyr) c.1942G>T (p.Asp648Tyr) c.1891G>T (p.Asp631Tyr) c.1996G>T (p.Asp666Tyr) c.1903G>T (p.Asp635Tyr) c.2002G>T (p.Asp668Tyr) c.2032G>T (p.Asp678Tyr) c.2023G>T (p.Asp675Tyr) c.1993G>T (p.Asp665Tyr) c.1936G>T (p.Asp646Tyr) c.1882G>T (p.Asp628Tyr) c.1675G>T (p.Asp559Tyr) c.2089G>T (p.Asp697Tyr) c.2083G>T (p.Asp695Tyr) c.2080G>T (p.Asp694Tyr) c.2140G>T (p.Asp714Tyr) c.2131G>T (p.Asp711Tyr) c.2050G>T (p.Asp684Tyr) c.1999G>T (p.Asp667Tyr) | |
14 | g.33800289A>C | CA389413377 | NPAS3 | c.1982A>C (p.Asp661Ala) c.1991A>C (p.Asp664Ala) c.1882A>C c.793+2708A>C c.1886A>C (p.Asp629Ala) c.1943A>C (p.Asp648Ala) c.1892A>C (p.Asp631Ala) c.1997A>C (p.Asp666Ala) c.1904A>C (p.Asp635Ala) c.2003A>C (p.Asp668Ala) c.2033A>C (p.Asp678Ala) c.2024A>C (p.Asp675Ala) c.1994A>C (p.Asp665Ala) c.1937A>C (p.Asp646Ala) c.1883A>C (p.Asp628Ala) c.1676A>C (p.Asp559Ala) c.2090A>C (p.Asp697Ala) c.2084A>C (p.Asp695Ala) c.2081A>C (p.Asp694Ala) c.2141A>C (p.Asp714Ala) c.2132A>C (p.Asp711Ala) c.2051A>C (p.Asp684Ala) c.2000A>C (p.Asp667Ala) | |
14 | g.33800289A>G | CA389413379 | NPAS3 | c.1982A>G (p.Asp661Gly) c.1991A>G (p.Asp664Gly) c.1882A>G c.793+2708A>G c.1886A>G (p.Asp629Gly) c.1943A>G (p.Asp648Gly) c.1892A>G (p.Asp631Gly) c.1997A>G (p.Asp666Gly) c.1904A>G (p.Asp635Gly) c.2003A>G (p.Asp668Gly) c.2033A>G (p.Asp678Gly) c.2024A>G (p.Asp675Gly) c.1994A>G (p.Asp665Gly) c.1937A>G (p.Asp646Gly) c.1883A>G (p.Asp628Gly) c.1676A>G (p.Asp559Gly) c.2090A>G (p.Asp697Gly) c.2084A>G (p.Asp695Gly) c.2081A>G (p.Asp694Gly) c.2141A>G (p.Asp714Gly) c.2132A>G (p.Asp711Gly) c.2051A>G (p.Asp684Gly) c.2000A>G (p.Asp667Gly) | |
14 | g.33800289A>T | CA389413381 | NPAS3 | c.1982A>T (p.Asp661Val) c.1991A>T (p.Asp664Val) c.1882A>T c.793+2708A>T c.1886A>T (p.Asp629Val) c.1943A>T (p.Asp648Val) c.1892A>T (p.Asp631Val) c.1997A>T (p.Asp666Val) c.1904A>T (p.Asp635Val) c.2003A>T (p.Asp668Val) c.2033A>T (p.Asp678Val) c.2024A>T (p.Asp675Val) c.1994A>T (p.Asp665Val) c.1937A>T (p.Asp646Val) c.1883A>T (p.Asp628Val) c.1676A>T (p.Asp559Val) c.2090A>T (p.Asp697Val) c.2084A>T (p.Asp695Val) c.2081A>T (p.Asp694Val) c.2141A>T (p.Asp714Val) c.2132A>T (p.Asp711Val) c.2051A>T (p.Asp684Val) c.2000A>T (p.Asp667Val) | |
14 | g.33800290C>A | CA389413383 | NPAS3 | c.1983C>A (p.Asp661Glu) c.1992C>A (p.Asp664Glu) c.1883C>A c.793+2709C>A c.1887C>A (p.Asp629Glu) c.1944C>A (p.Asp648Glu) c.1893C>A (p.Asp631Glu) c.1998C>A (p.Asp666Glu) c.1905C>A (p.Asp635Glu) c.2004C>A (p.Asp668Glu) c.2034C>A (p.Asp678Glu) c.2025C>A (p.Asp675Glu) c.1995C>A (p.Asp665Glu) c.1938C>A (p.Asp646Glu) c.1884C>A (p.Asp628Glu) c.1677C>A (p.Asp559Glu) c.2091C>A (p.Asp697Glu) c.2085C>A (p.Asp695Glu) c.2082C>A (p.Asp694Glu) c.2142C>A (p.Asp714Glu) c.2133C>A (p.Asp711Glu) c.2052C>A (p.Asp684Glu) c.2001C>A (p.Asp667Glu) | |
14 | g.33800290C>G | CA389413385 | NPAS3 | c.1983C>G (p.Asp661Glu) c.1992C>G (p.Asp664Glu) c.1883C>G c.793+2709C>G c.1887C>G (p.Asp629Glu) c.1944C>G (p.Asp648Glu) c.1893C>G (p.Asp631Glu) c.1998C>G (p.Asp666Glu) c.1905C>G (p.Asp635Glu) c.2004C>G (p.Asp668Glu) c.2034C>G (p.Asp678Glu) c.2025C>G (p.Asp675Glu) c.1995C>G (p.Asp665Glu) c.1938C>G (p.Asp646Glu) c.1884C>G (p.Asp628Glu) c.1677C>G (p.Asp559Glu) c.2091C>G (p.Asp697Glu) c.2085C>G (p.Asp695Glu) c.2082C>G (p.Asp694Glu) c.2142C>G (p.Asp714Glu) c.2133C>G (p.Asp711Glu) c.2052C>G (p.Asp684Glu) c.2001C>G (p.Asp667Glu) | gnomAD v4 |
14 | g.33800290C>T | CA486093003 | NPAS3 | c.1983C>T (p.Asp661=) c.1992C>T (p.Asp664=) c.1883C>T c.793+2709C>T c.1887C>T (p.Asp629=) c.1944C>T (p.Asp648=) c.1893C>T (p.Asp631=) c.1998C>T (p.Asp666=) c.1905C>T (p.Asp635=) c.2004C>T (p.Asp668=) c.2034C>T (p.Asp678=) c.2025C>T (p.Asp675=) c.1995C>T (p.Asp665=) c.1938C>T (p.Asp646=) c.1884C>T (p.Asp628=) c.1677C>T (p.Asp559=) c.2091C>T (p.Asp697=) c.2085C>T (p.Asp695=) c.2082C>T (p.Asp694=) c.2142C>T (p.Asp714=) c.2133C>T (p.Asp711=) c.2052C>T (p.Asp684=) c.2001C>T (p.Asp667=) | gnomAD v4 |
14 | g.33800291A>C | CA389413389 | NPAS3 | c.1984A>C (p.Ser662Arg) c.1993A>C (p.Ser665Arg) c.1884A>C c.793+2710A>C c.1888A>C (p.Ser630Arg) c.1945A>C (p.Ser649Arg) c.1894A>C (p.Ser632Arg) c.1999A>C (p.Ser667Arg) c.1906A>C (p.Ser636Arg) c.2005A>C (p.Ser669Arg) c.2035A>C (p.Ser679Arg) c.2026A>C (p.Ser676Arg) c.1996A>C (p.Ser666Arg) c.1939A>C (p.Ser647Arg) c.1885A>C (p.Ser629Arg) c.1678A>C (p.Ser560Arg) c.2092A>C (p.Ser698Arg) c.2086A>C (p.Ser696Arg) c.2083A>C (p.Ser695Arg) c.2143A>C (p.Ser715Arg) c.2134A>C (p.Ser712Arg) c.2053A>C (p.Ser685Arg) c.2002A>C (p.Ser668Arg) | |
14 | g.33800291A>G | CA389413390 | NPAS3 | c.1984A>G (p.Ser662Gly) c.1993A>G (p.Ser665Gly) c.1884A>G c.793+2710A>G c.1888A>G (p.Ser630Gly) c.1945A>G (p.Ser649Gly) c.1894A>G (p.Ser632Gly) c.1999A>G (p.Ser667Gly) c.1906A>G (p.Ser636Gly) c.2005A>G (p.Ser669Gly) c.2035A>G (p.Ser679Gly) c.2026A>G (p.Ser676Gly) c.1996A>G (p.Ser666Gly) c.1939A>G (p.Ser647Gly) c.1885A>G (p.Ser629Gly) c.1678A>G (p.Ser560Gly) c.2092A>G (p.Ser698Gly) c.2086A>G (p.Ser696Gly) c.2083A>G (p.Ser695Gly) c.2143A>G (p.Ser715Gly) c.2134A>G (p.Ser712Gly) c.2053A>G (p.Ser685Gly) c.2002A>G (p.Ser668Gly) | gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800291A>T | CA389413392 | NPAS3 | c.1984A>T (p.Ser662Cys) c.1993A>T (p.Ser665Cys) c.1884A>T c.793+2710A>T c.1888A>T (p.Ser630Cys) c.1945A>T (p.Ser649Cys) c.1894A>T (p.Ser632Cys) c.1999A>T (p.Ser667Cys) c.1906A>T (p.Ser636Cys) c.2005A>T (p.Ser669Cys) c.2035A>T (p.Ser679Cys) c.2026A>T (p.Ser676Cys) c.1996A>T (p.Ser666Cys) c.1939A>T (p.Ser647Cys) c.1885A>T (p.Ser629Cys) c.1678A>T (p.Ser560Cys) c.2092A>T (p.Ser698Cys) c.2086A>T (p.Ser696Cys) c.2083A>T (p.Ser695Cys) c.2143A>T (p.Ser715Cys) c.2134A>T (p.Ser712Cys) c.2053A>T (p.Ser685Cys) c.2002A>T (p.Ser668Cys) | |
14 | g.33800292G>A | CA389413393 | NPAS3 | c.1985G>A (p.Ser662Asn) c.1994G>A (p.Ser665Asn) c.1885G>A c.793+2711G>A c.1889G>A (p.Ser630Asn) c.1946G>A (p.Ser649Asn) c.1895G>A (p.Ser632Asn) c.2000G>A (p.Ser667Asn) c.1907G>A (p.Ser636Asn) c.2006G>A (p.Ser669Asn) c.2036G>A (p.Ser679Asn) c.2027G>A (p.Ser676Asn) c.1997G>A (p.Ser666Asn) c.1940G>A (p.Ser647Asn) c.1886G>A (p.Ser629Asn) c.1679G>A (p.Ser560Asn) c.2093G>A (p.Ser698Asn) c.2087G>A (p.Ser696Asn) c.2084G>A (p.Ser695Asn) c.2144G>A (p.Ser715Asn) c.2135G>A (p.Ser712Asn) c.2054G>A (p.Ser685Asn) c.2003G>A (p.Ser668Asn) | |
14 | g.33800292G>C | CA389413395 | NPAS3 | c.1985G>C (p.Ser662Thr) c.1994G>C (p.Ser665Thr) c.1885G>C c.793+2711G>C c.1889G>C (p.Ser630Thr) c.1946G>C (p.Ser649Thr) c.1895G>C (p.Ser632Thr) c.2000G>C (p.Ser667Thr) c.1907G>C (p.Ser636Thr) c.2006G>C (p.Ser669Thr) c.2036G>C (p.Ser679Thr) c.2027G>C (p.Ser676Thr) c.1997G>C (p.Ser666Thr) c.1940G>C (p.Ser647Thr) c.1886G>C (p.Ser629Thr) c.1679G>C (p.Ser560Thr) c.2093G>C (p.Ser698Thr) c.2087G>C (p.Ser696Thr) c.2084G>C (p.Ser695Thr) c.2144G>C (p.Ser715Thr) c.2135G>C (p.Ser712Thr) c.2054G>C (p.Ser685Thr) c.2003G>C (p.Ser668Thr) | |
14 | g.33800292G>T | CA389413396 | NPAS3 | c.1985G>T (p.Ser662Ile) c.1994G>T (p.Ser665Ile) c.1885G>T c.793+2711G>T c.1889G>T (p.Ser630Ile) c.1946G>T (p.Ser649Ile) c.1895G>T (p.Ser632Ile) c.2000G>T (p.Ser667Ile) c.1907G>T (p.Ser636Ile) c.2006G>T (p.Ser669Ile) c.2036G>T (p.Ser679Ile) c.2027G>T (p.Ser676Ile) c.1997G>T (p.Ser666Ile) c.1940G>T (p.Ser647Ile) c.1886G>T (p.Ser629Ile) c.1679G>T (p.Ser560Ile) c.2093G>T (p.Ser698Ile) c.2087G>T (p.Ser696Ile) c.2084G>T (p.Ser695Ile) c.2144G>T (p.Ser715Ile) c.2135G>T (p.Ser712Ile) c.2054G>T (p.Ser685Ile) c.2003G>T (p.Ser668Ile) | |
14 | g.33800293C>A | CA389413399 | NPAS3 | c.1986C>A (p.Ser662Arg) c.1995C>A (p.Ser665Arg) c.1886C>A c.793+2712C>A c.1890C>A (p.Ser630Arg) c.1947C>A (p.Ser649Arg) c.1896C>A (p.Ser632Arg) c.2001C>A (p.Ser667Arg) c.1908C>A (p.Ser636Arg) c.2007C>A (p.Ser669Arg) c.2037C>A (p.Ser679Arg) c.2028C>A (p.Ser676Arg) c.1998C>A (p.Ser666Arg) c.1941C>A (p.Ser647Arg) c.1887C>A (p.Ser629Arg) c.1680C>A (p.Ser560Arg) c.2094C>A (p.Ser698Arg) c.2088C>A (p.Ser696Arg) c.2085C>A (p.Ser695Arg) c.2145C>A (p.Ser715Arg) c.2136C>A (p.Ser712Arg) c.2055C>A (p.Ser685Arg) c.2004C>A (p.Ser668Arg) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800293C= | CA2128327223 | NPAS3 | c.1986C= (p.Ser662=) c.1995C= (p.Ser665=) c.1886C= c.793+2712C= c.1890C= (p.Ser630=) c.1947C= (p.Ser649=) c.1896C= (p.Ser632=) c.2001C= (p.Ser667=) c.1908C= (p.Ser636=) c.2007C= (p.Ser669=) c.2037C= (p.Ser679=) c.2028C= (p.Ser676=) c.1998C= (p.Ser666=) c.1941C= (p.Ser647=) c.1887C= (p.Ser629=) c.1680C= (p.Ser560=) c.2094C= (p.Ser698=) c.2088C= (p.Ser696=) c.2085C= (p.Ser695=) c.2145C= (p.Ser715=) c.2136C= (p.Ser712=) c.2055C= (p.Ser685=) c.2004C= (p.Ser668=) | |
14 | g.33800293C>G | CA389413401 | NPAS3 | c.1986C>G (p.Ser662Arg) c.1995C>G (p.Ser665Arg) c.1886C>G c.793+2712C>G c.1890C>G (p.Ser630Arg) c.1947C>G (p.Ser649Arg) c.1896C>G (p.Ser632Arg) c.2001C>G (p.Ser667Arg) c.1908C>G (p.Ser636Arg) c.2007C>G (p.Ser669Arg) c.2037C>G (p.Ser679Arg) c.2028C>G (p.Ser676Arg) c.1998C>G (p.Ser666Arg) c.1941C>G (p.Ser647Arg) c.1887C>G (p.Ser629Arg) c.1680C>G (p.Ser560Arg) c.2094C>G (p.Ser698Arg) c.2088C>G (p.Ser696Arg) c.2085C>G (p.Ser695Arg) c.2145C>G (p.Ser715Arg) c.2136C>G (p.Ser712Arg) c.2055C>G (p.Ser685Arg) c.2004C>G (p.Ser668Arg) | |
14 | g.33800293C>T | CA486093004 | NPAS3 | c.1986C>T (p.Ser662=) c.1995C>T (p.Ser665=) c.1886C>T c.793+2712C>T c.1890C>T (p.Ser630=) c.1947C>T (p.Ser649=) c.1896C>T (p.Ser632=) c.2001C>T (p.Ser667=) c.1908C>T (p.Ser636=) c.2007C>T (p.Ser669=) c.2037C>T (p.Ser679=) c.2028C>T (p.Ser676=) c.1998C>T (p.Ser666=) c.1941C>T (p.Ser647=) c.1887C>T (p.Ser629=) c.1680C>T (p.Ser560=) c.2094C>T (p.Ser698=) c.2088C>T (p.Ser696=) c.2085C>T (p.Ser695=) c.2145C>T (p.Ser715=) c.2136C>T (p.Ser712=) c.2055C>T (p.Ser685=) c.2004C>T (p.Ser668=) | |
14 | g.33800294A>C | CA389413406 | NPAS3 | c.1987A>C (p.Ser663Arg) c.1996A>C (p.Ser666Arg) c.1887A>C c.793+2713A>C c.1891A>C (p.Ser631Arg) c.1948A>C (p.Ser650Arg) c.1897A>C (p.Ser633Arg) c.2002A>C (p.Ser668Arg) c.1909A>C (p.Ser637Arg) c.2008A>C (p.Ser670Arg) c.2038A>C (p.Ser680Arg) c.2029A>C (p.Ser677Arg) c.1999A>C (p.Ser667Arg) c.1942A>C (p.Ser648Arg) c.1888A>C (p.Ser630Arg) c.1681A>C (p.Ser561Arg) c.2095A>C (p.Ser699Arg) c.2089A>C (p.Ser697Arg) c.2086A>C (p.Ser696Arg) c.2146A>C (p.Ser716Arg) c.2137A>C (p.Ser713Arg) c.2056A>C (p.Ser686Arg) c.2005A>C (p.Ser669Arg) | |
14 | g.33800294A>G | CA389413403 | NPAS3 | c.1987A>G (p.Ser663Gly) c.1996A>G (p.Ser666Gly) c.1887A>G c.793+2713A>G c.1891A>G (p.Ser631Gly) c.1948A>G (p.Ser650Gly) c.1897A>G (p.Ser633Gly) c.2002A>G (p.Ser668Gly) c.1909A>G (p.Ser637Gly) c.2008A>G (p.Ser670Gly) c.2038A>G (p.Ser680Gly) c.2029A>G (p.Ser677Gly) c.1999A>G (p.Ser667Gly) c.1942A>G (p.Ser648Gly) c.1888A>G (p.Ser630Gly) c.1681A>G (p.Ser561Gly) c.2095A>G (p.Ser699Gly) c.2089A>G (p.Ser697Gly) c.2086A>G (p.Ser696Gly) c.2146A>G (p.Ser716Gly) c.2137A>G (p.Ser713Gly) c.2056A>G (p.Ser686Gly) c.2005A>G (p.Ser669Gly) | |
14 | g.33800294A>T | CA389413405 | NPAS3 | c.1987A>T (p.Ser663Cys) c.1996A>T (p.Ser666Cys) c.1887A>T c.793+2713A>T c.1891A>T (p.Ser631Cys) c.1948A>T (p.Ser650Cys) c.1897A>T (p.Ser633Cys) c.2002A>T (p.Ser668Cys) c.1909A>T (p.Ser637Cys) c.2008A>T (p.Ser670Cys) c.2038A>T (p.Ser680Cys) c.2029A>T (p.Ser677Cys) c.1999A>T (p.Ser667Cys) c.1942A>T (p.Ser648Cys) c.1888A>T (p.Ser630Cys) c.1681A>T (p.Ser561Cys) c.2095A>T (p.Ser699Cys) c.2089A>T (p.Ser697Cys) c.2086A>T (p.Ser696Cys) c.2146A>T (p.Ser716Cys) c.2137A>T (p.Ser713Cys) c.2056A>T (p.Ser686Cys) c.2005A>T (p.Ser669Cys) | |
14 | g.33800295G>A | CA389413407 | NPAS3 | c.1988G>A (p.Ser663Asn) c.1997G>A (p.Ser666Asn) c.1888G>A c.793+2714G>A c.1892G>A (p.Ser631Asn) c.1949G>A (p.Ser650Asn) c.1898G>A (p.Ser633Asn) c.2003G>A (p.Ser668Asn) c.1910G>A (p.Ser637Asn) c.2009G>A (p.Ser670Asn) c.2039G>A (p.Ser680Asn) c.2030G>A (p.Ser677Asn) c.2000G>A (p.Ser667Asn) c.1943G>A (p.Ser648Asn) c.1889G>A (p.Ser630Asn) c.1682G>A (p.Ser561Asn) c.2096G>A (p.Ser699Asn) c.2090G>A (p.Ser697Asn) c.2087G>A (p.Ser696Asn) c.2147G>A (p.Ser716Asn) c.2138G>A (p.Ser713Asn) c.2057G>A (p.Ser686Asn) c.2006G>A (p.Ser669Asn) | gnomAD v4 |
14 | g.33800295G>C | CA389413409 | NPAS3 | c.1988G>C (p.Ser663Thr) c.1997G>C (p.Ser666Thr) c.1888G>C c.793+2714G>C c.1892G>C (p.Ser631Thr) c.1949G>C (p.Ser650Thr) c.1898G>C (p.Ser633Thr) c.2003G>C (p.Ser668Thr) c.1910G>C (p.Ser637Thr) c.2009G>C (p.Ser670Thr) c.2039G>C (p.Ser680Thr) c.2030G>C (p.Ser677Thr) c.2000G>C (p.Ser667Thr) c.1943G>C (p.Ser648Thr) c.1889G>C (p.Ser630Thr) c.1682G>C (p.Ser561Thr) c.2096G>C (p.Ser699Thr) c.2090G>C (p.Ser697Thr) c.2087G>C (p.Ser696Thr) c.2147G>C (p.Ser716Thr) c.2138G>C (p.Ser713Thr) c.2057G>C (p.Ser686Thr) c.2006G>C (p.Ser669Thr) | |
14 | g.33800295G>T | CA389413411 | NPAS3 | c.1988G>T (p.Ser663Ile) c.1997G>T (p.Ser666Ile) c.1888G>T c.793+2714G>T c.1892G>T (p.Ser631Ile) c.1949G>T (p.Ser650Ile) c.1898G>T (p.Ser633Ile) c.2003G>T (p.Ser668Ile) c.1910G>T (p.Ser637Ile) c.2009G>T (p.Ser670Ile) c.2039G>T (p.Ser680Ile) c.2030G>T (p.Ser677Ile) c.2000G>T (p.Ser667Ile) c.1943G>T (p.Ser648Ile) c.1889G>T (p.Ser630Ile) c.1682G>T (p.Ser561Ile) c.2096G>T (p.Ser699Ile) c.2090G>T (p.Ser697Ile) c.2087G>T (p.Ser696Ile) c.2147G>T (p.Ser716Ile) c.2138G>T (p.Ser713Ile) c.2057G>T (p.Ser686Ile) c.2006G>T (p.Ser669Ile) | |
14 | g.33800296C>A | CA389413412 | NPAS3 | c.1989C>A (p.Ser663Arg) c.1998C>A (p.Ser666Arg) c.1889C>A c.793+2715C>A c.1893C>A (p.Ser631Arg) c.1950C>A (p.Ser650Arg) c.1899C>A (p.Ser633Arg) c.2004C>A (p.Ser668Arg) c.1911C>A (p.Ser637Arg) c.2010C>A (p.Ser670Arg) c.2040C>A (p.Ser680Arg) c.2031C>A (p.Ser677Arg) c.2001C>A (p.Ser667Arg) c.1944C>A (p.Ser648Arg) c.1890C>A (p.Ser630Arg) c.1683C>A (p.Ser561Arg) c.2097C>A (p.Ser699Arg) c.2091C>A (p.Ser697Arg) c.2088C>A (p.Ser696Arg) c.2148C>A (p.Ser716Arg) c.2139C>A (p.Ser713Arg) c.2058C>A (p.Ser686Arg) c.2007C>A (p.Ser669Arg) | |
14 | g.33800296C>G | CA389413414 | NPAS3 | c.1989C>G (p.Ser663Arg) c.1998C>G (p.Ser666Arg) c.1889C>G c.793+2715C>G c.1893C>G (p.Ser631Arg) c.1950C>G (p.Ser650Arg) c.1899C>G (p.Ser633Arg) c.2004C>G (p.Ser668Arg) c.1911C>G (p.Ser637Arg) c.2010C>G (p.Ser670Arg) c.2040C>G (p.Ser680Arg) c.2031C>G (p.Ser677Arg) c.2001C>G (p.Ser667Arg) c.1944C>G (p.Ser648Arg) c.1890C>G (p.Ser630Arg) c.1683C>G (p.Ser561Arg) c.2097C>G (p.Ser699Arg) c.2091C>G (p.Ser697Arg) c.2088C>G (p.Ser696Arg) c.2148C>G (p.Ser716Arg) c.2139C>G (p.Ser713Arg) c.2058C>G (p.Ser686Arg) c.2007C>G (p.Ser669Arg) | |
14 | g.33800296C>T | CA486093005 | NPAS3 | c.1989C>T (p.Ser663=) c.1998C>T (p.Ser666=) c.1889C>T c.793+2715C>T c.1893C>T (p.Ser631=) c.1950C>T (p.Ser650=) c.1899C>T (p.Ser633=) c.2004C>T (p.Ser668=) c.1911C>T (p.Ser637=) c.2010C>T (p.Ser670=) c.2040C>T (p.Ser680=) c.2031C>T (p.Ser677=) c.2001C>T (p.Ser667=) c.1944C>T (p.Ser648=) c.1890C>T (p.Ser630=) c.1683C>T (p.Ser561=) c.2097C>T (p.Ser699=) c.2091C>T (p.Ser697=) c.2088C>T (p.Ser696=) c.2148C>T (p.Ser716=) c.2139C>T (p.Ser713=) c.2058C>T (p.Ser686=) c.2007C>T (p.Ser669=) | |
14 | g.33800297A>C | CA389413416 | NPAS3 | c.1990A>C (p.Ile664Leu) c.1999A>C (p.Ile667Leu) c.1890A>C c.793+2716A>C c.1894A>C (p.Ile632Leu) c.1951A>C (p.Ile651Leu) c.1900A>C (p.Ile634Leu) c.2005A>C (p.Ile669Leu) c.1912A>C (p.Ile638Leu) c.2011A>C (p.Ile671Leu) c.2041A>C (p.Ile681Leu) c.2032A>C (p.Ile678Leu) c.2002A>C (p.Ile668Leu) c.1945A>C (p.Ile649Leu) c.1891A>C (p.Ile631Leu) c.1684A>C (p.Ile562Leu) c.2098A>C (p.Ile700Leu) c.2092A>C (p.Ile698Leu) c.2089A>C (p.Ile697Leu) c.2149A>C (p.Ile717Leu) c.2140A>C (p.Ile714Leu) c.2059A>C (p.Ile687Leu) c.2008A>C (p.Ile670Leu) | |
14 | g.33800297A>G | CA389413417 | NPAS3 | c.1990A>G (p.Ile664Val) c.1999A>G (p.Ile667Val) c.1890A>G c.793+2716A>G c.1894A>G (p.Ile632Val) c.1951A>G (p.Ile651Val) c.1900A>G (p.Ile634Val) c.2005A>G (p.Ile669Val) c.1912A>G (p.Ile638Val) c.2011A>G (p.Ile671Val) c.2041A>G (p.Ile681Val) c.2032A>G (p.Ile678Val) c.2002A>G (p.Ile668Val) c.1945A>G (p.Ile649Val) c.1891A>G (p.Ile631Val) c.1684A>G (p.Ile562Val) c.2098A>G (p.Ile700Val) c.2092A>G (p.Ile698Val) c.2089A>G (p.Ile697Val) c.2149A>G (p.Ile717Val) c.2140A>G (p.Ile714Val) c.2059A>G (p.Ile687Val) c.2008A>G (p.Ile670Val) | gnomAD v4 |
14 | g.33800297A>T | CA389413418 | NPAS3 | c.1990A>T (p.Ile664Phe) c.1999A>T (p.Ile667Phe) c.1890A>T c.793+2716A>T c.1894A>T (p.Ile632Phe) c.1951A>T (p.Ile651Phe) c.1900A>T (p.Ile634Phe) c.2005A>T (p.Ile669Phe) c.1912A>T (p.Ile638Phe) c.2011A>T (p.Ile671Phe) c.2041A>T (p.Ile681Phe) c.2032A>T (p.Ile678Phe) c.2002A>T (p.Ile668Phe) c.1945A>T (p.Ile649Phe) c.1891A>T (p.Ile631Phe) c.1684A>T (p.Ile562Phe) c.2098A>T (p.Ile700Phe) c.2092A>T (p.Ile698Phe) c.2089A>T (p.Ile697Phe) c.2149A>T (p.Ile717Phe) c.2140A>T (p.Ile714Phe) c.2059A>T (p.Ile687Phe) c.2008A>T (p.Ile670Phe) | |
14 | g.33800298T>A | CA389413421 | NPAS3 | c.1991T>A (p.Ile664Asn) c.2000T>A (p.Ile667Asn) c.1891T>A c.793+2717T>A c.1895T>A (p.Ile632Asn) c.1952T>A (p.Ile651Asn) c.1901T>A (p.Ile634Asn) c.2006T>A (p.Ile669Asn) c.1913T>A (p.Ile638Asn) c.2012T>A (p.Ile671Asn) c.2042T>A (p.Ile681Asn) c.2033T>A (p.Ile678Asn) c.2003T>A (p.Ile668Asn) c.1946T>A (p.Ile649Asn) c.1892T>A (p.Ile631Asn) c.1685T>A (p.Ile562Asn) c.2099T>A (p.Ile700Asn) c.2093T>A (p.Ile698Asn) c.2090T>A (p.Ile697Asn) c.2150T>A (p.Ile717Asn) c.2141T>A (p.Ile714Asn) c.2060T>A (p.Ile687Asn) c.2009T>A (p.Ile670Asn) | |
14 | g.33800298T>C | CA389413422 | NPAS3 | c.1991T>C (p.Ile664Thr) c.2000T>C (p.Ile667Thr) c.1891T>C c.793+2717T>C c.1895T>C (p.Ile632Thr) c.1952T>C (p.Ile651Thr) c.1901T>C (p.Ile634Thr) c.2006T>C (p.Ile669Thr) c.1913T>C (p.Ile638Thr) c.2012T>C (p.Ile671Thr) c.2042T>C (p.Ile681Thr) c.2033T>C (p.Ile678Thr) c.2003T>C (p.Ile668Thr) c.1946T>C (p.Ile649Thr) c.1892T>C (p.Ile631Thr) c.1685T>C (p.Ile562Thr) c.2099T>C (p.Ile700Thr) c.2093T>C (p.Ile698Thr) c.2090T>C (p.Ile697Thr) c.2150T>C (p.Ile717Thr) c.2141T>C (p.Ile714Thr) c.2060T>C (p.Ile687Thr) c.2009T>C (p.Ile670Thr) | |
14 | g.33800298T>G | CA389413423 | NPAS3 | c.1991T>G (p.Ile664Ser) c.2000T>G (p.Ile667Ser) c.1891T>G c.793+2717T>G c.1895T>G (p.Ile632Ser) c.1952T>G (p.Ile651Ser) c.1901T>G (p.Ile634Ser) c.2006T>G (p.Ile669Ser) c.1913T>G (p.Ile638Ser) c.2012T>G (p.Ile671Ser) c.2042T>G (p.Ile681Ser) c.2033T>G (p.Ile678Ser) c.2003T>G (p.Ile668Ser) c.1946T>G (p.Ile649Ser) c.1892T>G (p.Ile631Ser) c.1685T>G (p.Ile562Ser) c.2099T>G (p.Ile700Ser) c.2093T>G (p.Ile698Ser) c.2090T>G (p.Ile697Ser) c.2150T>G (p.Ile717Ser) c.2141T>G (p.Ile714Ser) c.2060T>G (p.Ile687Ser) c.2009T>G (p.Ile670Ser) |