Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.33800038_33800056delinsCGACAGCGCCAAGGACTCGCA2128326746NPAS3c.1731_1749delinsCGACAGCGCCAAGGACTCG (p.Ser577=)
c.1740_1758delinsCGACAGCGCCAAGGACTCG (p.Ser580=)
c.1631_1649delinsCGACAGCGCCAAGGACTCG
c.793+2457_793+2475delinsCGACAGCGCCAAGGACTCG
c.1635_1653delinsCGACAGCGCCAAGGACTCG (p.Ser545=)
c.1692_1710delinsCGACAGCGCCAAGGACTCG (p.Ser564=)
c.1641_1659delinsCGACAGCGCCAAGGACTCG (p.Ser547=)
c.1746_1764delinsCGACAGCGCCAAGGACTCG (p.Ser582=)
c.1653_1671delinsCGACAGCGCCAAGGACTCG (p.Ser551=)
c.1752_1770delinsCGACAGCGCCAAGGACTCG (p.Ser584=)
c.1782_1800delinsCGACAGCGCCAAGGACTCG (p.Ser594=)
c.1773_1791delinsCGACAGCGCCAAGGACTCG (p.Ser591=)
c.1743_1761delinsCGACAGCGCCAAGGACTCG (p.Ser581=)
c.1686_1704delinsCGACAGCGCCAAGGACTCG (p.Ser562=)
c.1632_1650delinsCGACAGCGCCAAGGACTCG (p.Ser544=)
c.1425_1443delinsCGACAGCGCCAAGGACTCG (p.Ser475=)
c.1839_1857delinsCGACAGCGCCAAGGACTCG (p.Ser613=)
c.1833_1851delinsCGACAGCGCCAAGGACTCG (p.Ser611=)
c.1830_1848delinsCGACAGCGCCAAGGACTCG (p.Ser610=)
c.1890_1908delinsCGACAGCGCCAAGGACTCG (p.Ser630=)
c.1881_1899delinsCGACAGCGCCAAGGACTCG (p.Ser627=)
c.1800_1818delinsCGACAGCGCCAAGGACTCG (p.Ser600=)
c.1749_1767delinsCGACAGCGCCAAGGACTCG (p.Ser583=)
14g.33800047_33800064delCA7150863NPAS3c.1740_1757del (p.Lys581_Ala586del)
c.1749_1766del (p.Lys584_Ala589del)
c.1640_1657del
c.793+2466_793+2483del
c.1644_1661del (p.Lys549_Ala554del)
c.1701_1718del (p.Lys568_Ala573del)
c.1650_1667del (p.Lys551_Ala556del)
c.1755_1772del (p.Lys586_Ala591del)
c.1662_1679del (p.Lys555_Ala560del)
c.1761_1778del (p.Lys588_Ala593del)
c.1791_1808del (p.Lys598_Ala603del)
c.1782_1799del (p.Lys595_Ala600del)
c.1752_1769del (p.Lys585_Ala590del)
c.1695_1712del (p.Lys566_Ala571del)
c.1641_1658del (p.Lys548_Ala553del)
c.1434_1451del (p.Lys479_Ala484del)
c.1848_1865del (p.Lys617_Ala622del)
c.1842_1859del (p.Lys615_Ala620del)
c.1839_1856del (p.Lys614_Ala619del)
c.1899_1916del (p.Lys634_Ala639del)
c.1890_1907del (p.Lys631_Ala636del)
c.1809_1826del (p.Lys604_Ala609del)
c.1758_1775del (p.Lys587_Ala592del)
 dbSNP ExAC gnomAD v2
14g.33800049A>CCA389412138NPAS3c.1742A>C (p.Lys581Thr)
c.1751A>C (p.Lys584Thr)
c.1642A>C
c.793+2468A>C
c.1646A>C (p.Lys549Thr)
c.1703A>C (p.Lys568Thr)
c.1652A>C (p.Lys551Thr)
c.1757A>C (p.Lys586Thr)
c.1664A>C (p.Lys555Thr)
c.1763A>C (p.Lys588Thr)
c.1793A>C (p.Lys598Thr)
c.1784A>C (p.Lys595Thr)
c.1754A>C (p.Lys585Thr)
c.1697A>C (p.Lys566Thr)
c.1643A>C (p.Lys548Thr)
c.1436A>C (p.Lys479Thr)
c.1850A>C (p.Lys617Thr)
c.1844A>C (p.Lys615Thr)
c.1841A>C (p.Lys614Thr)
c.1901A>C (p.Lys634Thr)
c.1892A>C (p.Lys631Thr)
c.1811A>C (p.Lys604Thr)
c.1760A>C (p.Lys587Thr)
14g.33800049A>GCA389412140NPAS3c.1742A>G (p.Lys581Arg)
c.1751A>G (p.Lys584Arg)
c.1642A>G
c.793+2468A>G
c.1646A>G (p.Lys549Arg)
c.1703A>G (p.Lys568Arg)
c.1652A>G (p.Lys551Arg)
c.1757A>G (p.Lys586Arg)
c.1664A>G (p.Lys555Arg)
c.1763A>G (p.Lys588Arg)
c.1793A>G (p.Lys598Arg)
c.1784A>G (p.Lys595Arg)
c.1754A>G (p.Lys585Arg)
c.1697A>G (p.Lys566Arg)
c.1643A>G (p.Lys548Arg)
c.1436A>G (p.Lys479Arg)
c.1850A>G (p.Lys617Arg)
c.1844A>G (p.Lys615Arg)
c.1841A>G (p.Lys614Arg)
c.1901A>G (p.Lys634Arg)
c.1892A>G (p.Lys631Arg)
c.1811A>G (p.Lys604Arg)
c.1760A>G (p.Lys587Arg)
14g.33800049A>TCA389412142NPAS3c.1742A>T (p.Lys581Met)
c.1751A>T (p.Lys584Met)
c.1642A>T
c.793+2468A>T
c.1646A>T (p.Lys549Met)
c.1703A>T (p.Lys568Met)
c.1652A>T (p.Lys551Met)
c.1757A>T (p.Lys586Met)
c.1664A>T (p.Lys555Met)
c.1763A>T (p.Lys588Met)
c.1793A>T (p.Lys598Met)
c.1784A>T (p.Lys595Met)
c.1754A>T (p.Lys585Met)
c.1697A>T (p.Lys566Met)
c.1643A>T (p.Lys548Met)
c.1436A>T (p.Lys479Met)
c.1850A>T (p.Lys617Met)
c.1844A>T (p.Lys615Met)
c.1841A>T (p.Lys614Met)
c.1901A>T (p.Lys634Met)
c.1892A>T (p.Lys631Met)
c.1811A>T (p.Lys604Met)
c.1760A>T (p.Lys587Met)
14g.33800049_33800055delinsAGGACTCCA2128326767NPAS3c.1742_1748delinsAGGACTC (p.Lys581=)
c.1751_1757delinsAGGACTC (p.Lys584=)
c.1642_1648delinsAGGACTC
c.793+2468_793+2474delinsAGGACTC
c.1646_1652delinsAGGACTC (p.Lys549=)
c.1703_1709delinsAGGACTC (p.Lys568=)
c.1652_1658delinsAGGACTC (p.Lys551=)
c.1757_1763delinsAGGACTC (p.Lys586=)
c.1664_1670delinsAGGACTC (p.Lys555=)
c.1763_1769delinsAGGACTC (p.Lys588=)
c.1793_1799delinsAGGACTC (p.Lys598=)
c.1784_1790delinsAGGACTC (p.Lys595=)
c.1754_1760delinsAGGACTC (p.Lys585=)
c.1697_1703delinsAGGACTC (p.Lys566=)
c.1643_1649delinsAGGACTC (p.Lys548=)
c.1436_1442delinsAGGACTC (p.Lys479=)
c.1850_1856delinsAGGACTC (p.Lys617=)
c.1844_1850delinsAGGACTC (p.Lys615=)
c.1841_1847delinsAGGACTC (p.Lys614=)
c.1901_1907delinsAGGACTC (p.Lys634=)
c.1892_1898delinsAGGACTC (p.Lys631=)
c.1811_1817delinsAGGACTC (p.Lys604=)
c.1760_1766delinsAGGACTC (p.Lys587=)
14g.33800050G>ACA486092947NPAS3c.1743G>A (p.Lys581=)
c.1752G>A (p.Lys584=)
c.1643G>A
c.793+2469G>A
c.1647G>A (p.Lys549=)
c.1704G>A (p.Lys568=)
c.1653G>A (p.Lys551=)
c.1758G>A (p.Lys586=)
c.1665G>A (p.Lys555=)
c.1764G>A (p.Lys588=)
c.1794G>A (p.Lys598=)
c.1785G>A (p.Lys595=)
c.1755G>A (p.Lys585=)
c.1698G>A (p.Lys566=)
c.1644G>A (p.Lys548=)
c.1437G>A (p.Lys479=)
c.1851G>A (p.Lys617=)
c.1845G>A (p.Lys615=)
c.1842G>A (p.Lys614=)
c.1902G>A (p.Lys634=)
c.1893G>A (p.Lys631=)
c.1812G>A (p.Lys604=)
c.1761G>A (p.Lys587=)
14g.33800050G>CCA389412144NPAS3c.1743G>C (p.Lys581Asn)
c.1752G>C (p.Lys584Asn)
c.1643G>C
c.793+2469G>C
c.1647G>C (p.Lys549Asn)
c.1704G>C (p.Lys568Asn)
c.1653G>C (p.Lys551Asn)
c.1758G>C (p.Lys586Asn)
c.1665G>C (p.Lys555Asn)
c.1764G>C (p.Lys588Asn)
c.1794G>C (p.Lys598Asn)
c.1785G>C (p.Lys595Asn)
c.1755G>C (p.Lys585Asn)
c.1698G>C (p.Lys566Asn)
c.1644G>C (p.Lys548Asn)
c.1437G>C (p.Lys479Asn)
c.1851G>C (p.Lys617Asn)
c.1845G>C (p.Lys615Asn)
c.1842G>C (p.Lys614Asn)
c.1902G>C (p.Lys634Asn)
c.1893G>C (p.Lys631Asn)
c.1812G>C (p.Lys604Asn)
c.1761G>C (p.Lys587Asn)
14g.33800050G>TCA389412145NPAS3c.1743G>T (p.Lys581Asn)
c.1752G>T (p.Lys584Asn)
c.1643G>T
c.793+2469G>T
c.1647G>T (p.Lys549Asn)
c.1704G>T (p.Lys568Asn)
c.1653G>T (p.Lys551Asn)
c.1758G>T (p.Lys586Asn)
c.1665G>T (p.Lys555Asn)
c.1764G>T (p.Lys588Asn)
c.1794G>T (p.Lys598Asn)
c.1785G>T (p.Lys595Asn)
c.1755G>T (p.Lys585Asn)
c.1698G>T (p.Lys566Asn)
c.1644G>T (p.Lys548Asn)
c.1437G>T (p.Lys479Asn)
c.1851G>T (p.Lys617Asn)
c.1845G>T (p.Lys615Asn)
c.1842G>T (p.Lys614Asn)
c.1902G>T (p.Lys634Asn)
c.1893G>T (p.Lys631Asn)
c.1812G>T (p.Lys604Asn)
c.1761G>T (p.Lys587Asn)
14g.33800054_33800059delCA2128326768NPAS3c.1747_1752del (p.Ser583_Asp584del)
c.1756_1761del (p.Ser586_Asp587del)
c.1647_1652del
c.793+2473_793+2478del
c.1651_1656del (p.Ser551_Asp552del)
c.1708_1713del (p.Ser570_Asp571del)
c.1657_1662del (p.Ser553_Asp554del)
c.1762_1767del (p.Ser588_Asp589del)
c.1669_1674del (p.Ser557_Asp558del)
c.1768_1773del (p.Ser590_Asp591del)
c.1798_1803del (p.Ser600_Asp601del)
c.1789_1794del (p.Ser597_Asp598del)
c.1759_1764del (p.Ser587_Asp588del)
c.1702_1707del (p.Ser568_Asp569del)
c.1648_1653del (p.Ser550_Asp551del)
c.1441_1446del (p.Ser481_Asp482del)
c.1855_1860del (p.Ser619_Asp620del)
c.1849_1854del (p.Ser617_Asp618del)
c.1846_1851del (p.Ser616_Asp617del)
c.1906_1911del (p.Ser636_Asp637del)
c.1897_1902del (p.Ser633_Asp634del)
c.1816_1821del (p.Ser606_Asp607del)
c.1765_1770del (p.Ser589_Asp590del)
 dbSNP gnomAD v4
14g.33800051G>ACA389412148NPAS3c.1744G>A (p.Asp582Asn)
c.1753G>A (p.Asp585Asn)
c.1644G>A
c.793+2470G>A
c.1648G>A (p.Asp550Asn)
c.1705G>A (p.Asp569Asn)
c.1654G>A (p.Asp552Asn)
c.1759G>A (p.Asp587Asn)
c.1666G>A (p.Asp556Asn)
c.1765G>A (p.Asp589Asn)
c.1795G>A (p.Asp599Asn)
c.1786G>A (p.Asp596Asn)
c.1756G>A (p.Asp586Asn)
c.1699G>A (p.Asp567Asn)
c.1645G>A (p.Asp549Asn)
c.1438G>A (p.Asp480Asn)
c.1852G>A (p.Asp618Asn)
c.1846G>A (p.Asp616Asn)
c.1843G>A (p.Asp615Asn)
c.1903G>A (p.Asp635Asn)
c.1894G>A (p.Asp632Asn)
c.1813G>A (p.Asp605Asn)
c.1762G>A (p.Asp588Asn)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800051G>CCA389412150NPAS3c.1744G>C (p.Asp582His)
c.1753G>C (p.Asp585His)
c.1644G>C
c.793+2470G>C
c.1648G>C (p.Asp550His)
c.1705G>C (p.Asp569His)
c.1654G>C (p.Asp552His)
c.1759G>C (p.Asp587His)
c.1666G>C (p.Asp556His)
c.1765G>C (p.Asp589His)
c.1795G>C (p.Asp599His)
c.1786G>C (p.Asp596His)
c.1756G>C (p.Asp586His)
c.1699G>C (p.Asp567His)
c.1645G>C (p.Asp549His)
c.1438G>C (p.Asp480His)
c.1852G>C (p.Asp618His)
c.1846G>C (p.Asp616His)
c.1843G>C (p.Asp615His)
c.1903G>C (p.Asp635His)
c.1894G>C (p.Asp632His)
c.1813G>C (p.Asp605His)
c.1762G>C (p.Asp588His)
 dbSNP gnomAD v4
14g.33800051G=CA2128326770NPAS3c.1744G= (p.Asp582=)
c.1753G= (p.Asp585=)
c.1644G=
c.793+2470G=
c.1648G= (p.Asp550=)
c.1705G= (p.Asp569=)
c.1654G= (p.Asp552=)
c.1759G= (p.Asp587=)
c.1666G= (p.Asp556=)
c.1765G= (p.Asp589=)
c.1795G= (p.Asp599=)
c.1786G= (p.Asp596=)
c.1756G= (p.Asp586=)
c.1699G= (p.Asp567=)
c.1645G= (p.Asp549=)
c.1438G= (p.Asp480=)
c.1852G= (p.Asp618=)
c.1846G= (p.Asp616=)
c.1843G= (p.Asp615=)
c.1903G= (p.Asp635=)
c.1894G= (p.Asp632=)
c.1813G= (p.Asp605=)
c.1762G= (p.Asp588=)
14g.33800051G>TCA389412152NPAS3c.1744G>T (p.Asp582Tyr)
c.1753G>T (p.Asp585Tyr)
c.1644G>T
c.793+2470G>T
c.1648G>T (p.Asp550Tyr)
c.1705G>T (p.Asp569Tyr)
c.1654G>T (p.Asp552Tyr)
c.1759G>T (p.Asp587Tyr)
c.1666G>T (p.Asp556Tyr)
c.1765G>T (p.Asp589Tyr)
c.1795G>T (p.Asp599Tyr)
c.1786G>T (p.Asp596Tyr)
c.1756G>T (p.Asp586Tyr)
c.1699G>T (p.Asp567Tyr)
c.1645G>T (p.Asp549Tyr)
c.1438G>T (p.Asp480Tyr)
c.1852G>T (p.Asp618Tyr)
c.1846G>T (p.Asp616Tyr)
c.1843G>T (p.Asp615Tyr)
c.1903G>T (p.Asp635Tyr)
c.1894G>T (p.Asp632Tyr)
c.1813G>T (p.Asp605Tyr)
c.1762G>T (p.Asp588Tyr)
14g.33800052A>CCA389412154NPAS3c.1745A>C (p.Asp582Ala)
c.1754A>C (p.Asp585Ala)
c.1645A>C
c.793+2471A>C
c.1649A>C (p.Asp550Ala)
c.1706A>C (p.Asp569Ala)
c.1655A>C (p.Asp552Ala)
c.1760A>C (p.Asp587Ala)
c.1667A>C (p.Asp556Ala)
c.1766A>C (p.Asp589Ala)
c.1796A>C (p.Asp599Ala)
c.1787A>C (p.Asp596Ala)
c.1757A>C (p.Asp586Ala)
c.1700A>C (p.Asp567Ala)
c.1646A>C (p.Asp549Ala)
c.1439A>C (p.Asp480Ala)
c.1853A>C (p.Asp618Ala)
c.1847A>C (p.Asp616Ala)
c.1844A>C (p.Asp615Ala)
c.1904A>C (p.Asp635Ala)
c.1895A>C (p.Asp632Ala)
c.1814A>C (p.Asp605Ala)
c.1763A>C (p.Asp588Ala)
 gnomAD v4
14g.33800052A>GCA389412156NPAS3c.1745A>G (p.Asp582Gly)
c.1754A>G (p.Asp585Gly)
c.1645A>G
c.793+2471A>G
c.1649A>G (p.Asp550Gly)
c.1706A>G (p.Asp569Gly)
c.1655A>G (p.Asp552Gly)
c.1760A>G (p.Asp587Gly)
c.1667A>G (p.Asp556Gly)
c.1766A>G (p.Asp589Gly)
c.1796A>G (p.Asp599Gly)
c.1787A>G (p.Asp596Gly)
c.1757A>G (p.Asp586Gly)
c.1700A>G (p.Asp567Gly)
c.1646A>G (p.Asp549Gly)
c.1439A>G (p.Asp480Gly)
c.1853A>G (p.Asp618Gly)
c.1847A>G (p.Asp616Gly)
c.1844A>G (p.Asp615Gly)
c.1904A>G (p.Asp635Gly)
c.1895A>G (p.Asp632Gly)
c.1814A>G (p.Asp605Gly)
c.1763A>G (p.Asp588Gly)
14g.33800052A>TCA389412157NPAS3c.1745A>T (p.Asp582Val)
c.1754A>T (p.Asp585Val)
c.1645A>T
c.793+2471A>T
c.1649A>T (p.Asp550Val)
c.1706A>T (p.Asp569Val)
c.1655A>T (p.Asp552Val)
c.1760A>T (p.Asp587Val)
c.1667A>T (p.Asp556Val)
c.1766A>T (p.Asp589Val)
c.1796A>T (p.Asp599Val)
c.1787A>T (p.Asp596Val)
c.1757A>T (p.Asp586Val)
c.1700A>T (p.Asp567Val)
c.1646A>T (p.Asp549Val)
c.1439A>T (p.Asp480Val)
c.1853A>T (p.Asp618Val)
c.1847A>T (p.Asp616Val)
c.1844A>T (p.Asp615Val)
c.1904A>T (p.Asp635Val)
c.1895A>T (p.Asp632Val)
c.1814A>T (p.Asp605Val)
c.1763A>T (p.Asp588Val)
14g.33800053C>ACA389412162NPAS3c.1746C>A (p.Asp582Glu)
c.1755C>A (p.Asp585Glu)
c.1646C>A
c.793+2472C>A
c.1650C>A (p.Asp550Glu)
c.1707C>A (p.Asp569Glu)
c.1656C>A (p.Asp552Glu)
c.1761C>A (p.Asp587Glu)
c.1668C>A (p.Asp556Glu)
c.1767C>A (p.Asp589Glu)
c.1797C>A (p.Asp599Glu)
c.1788C>A (p.Asp596Glu)
c.1758C>A (p.Asp586Glu)
c.1701C>A (p.Asp567Glu)
c.1647C>A (p.Asp549Glu)
c.1440C>A (p.Asp480Glu)
c.1854C>A (p.Asp618Glu)
c.1848C>A (p.Asp616Glu)
c.1845C>A (p.Asp615Glu)
c.1905C>A (p.Asp635Glu)
c.1896C>A (p.Asp632Glu)
c.1815C>A (p.Asp605Glu)
c.1764C>A (p.Asp588Glu)
14g.33800053C=CA2128326771NPAS3c.1746C= (p.Asp582=)
c.1755C= (p.Asp585=)
c.1646C=
c.793+2472C=
c.1650C= (p.Asp550=)
c.1707C= (p.Asp569=)
c.1656C= (p.Asp552=)
c.1761C= (p.Asp587=)
c.1668C= (p.Asp556=)
c.1767C= (p.Asp589=)
c.1797C= (p.Asp599=)
c.1788C= (p.Asp596=)
c.1758C= (p.Asp586=)
c.1701C= (p.Asp567=)
c.1647C= (p.Asp549=)
c.1440C= (p.Asp480=)
c.1854C= (p.Asp618=)
c.1848C= (p.Asp616=)
c.1845C= (p.Asp615=)
c.1905C= (p.Asp635=)
c.1896C= (p.Asp632=)
c.1815C= (p.Asp605=)
c.1764C= (p.Asp588=)
14g.33800053C>GCA389412161NPAS3c.1746C>G (p.Asp582Glu)
c.1755C>G (p.Asp585Glu)
c.1646C>G
c.793+2472C>G
c.1650C>G (p.Asp550Glu)
c.1707C>G (p.Asp569Glu)
c.1656C>G (p.Asp552Glu)
c.1761C>G (p.Asp587Glu)
c.1668C>G (p.Asp556Glu)
c.1767C>G (p.Asp589Glu)
c.1797C>G (p.Asp599Glu)
c.1788C>G (p.Asp596Glu)
c.1758C>G (p.Asp586Glu)
c.1701C>G (p.Asp567Glu)
c.1647C>G (p.Asp549Glu)
c.1440C>G (p.Asp480Glu)
c.1854C>G (p.Asp618Glu)
c.1848C>G (p.Asp616Glu)
c.1845C>G (p.Asp615Glu)
c.1905C>G (p.Asp635Glu)
c.1896C>G (p.Asp632Glu)
c.1815C>G (p.Asp605Glu)
c.1764C>G (p.Asp588Glu)
14g.33800053C>TCA7150867NPAS3c.1746C>T (p.Asp582=)
c.1755C>T (p.Asp585=)
c.1646C>T
c.793+2472C>T
c.1650C>T (p.Asp550=)
c.1707C>T (p.Asp569=)
c.1656C>T (p.Asp552=)
c.1761C>T (p.Asp587=)
c.1668C>T (p.Asp556=)
c.1767C>T (p.Asp589=)
c.1797C>T (p.Asp599=)
c.1788C>T (p.Asp596=)
c.1758C>T (p.Asp586=)
c.1701C>T (p.Asp567=)
c.1647C>T (p.Asp549=)
c.1440C>T (p.Asp480=)
c.1854C>T (p.Asp618=)
c.1848C>T (p.Asp616=)
c.1845C>T (p.Asp615=)
c.1905C>T (p.Asp635=)
c.1896C>T (p.Asp632=)
c.1815C>T (p.Asp605=)
c.1764C>T (p.Asp588=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800054T>ACA389412168NPAS3c.1747T>A (p.Ser583Thr)
c.1756T>A (p.Ser586Thr)
c.1647T>A
c.793+2473T>A
c.1651T>A (p.Ser551Thr)
c.1708T>A (p.Ser570Thr)
c.1657T>A (p.Ser553Thr)
c.1762T>A (p.Ser588Thr)
c.1669T>A (p.Ser557Thr)
c.1768T>A (p.Ser590Thr)
c.1798T>A (p.Ser600Thr)
c.1789T>A (p.Ser597Thr)
c.1759T>A (p.Ser587Thr)
c.1702T>A (p.Ser568Thr)
c.1648T>A (p.Ser550Thr)
c.1441T>A (p.Ser481Thr)
c.1855T>A (p.Ser619Thr)
c.1849T>A (p.Ser617Thr)
c.1846T>A (p.Ser616Thr)
c.1906T>A (p.Ser636Thr)
c.1897T>A (p.Ser633Thr)
c.1816T>A (p.Ser606Thr)
c.1765T>A (p.Ser589Thr)
14g.33800054T>CCA389412164NPAS3c.1747T>C (p.Ser583Pro)
c.1756T>C (p.Ser586Pro)
c.1647T>C
c.793+2473T>C
c.1651T>C (p.Ser551Pro)
c.1708T>C (p.Ser570Pro)
c.1657T>C (p.Ser553Pro)
c.1762T>C (p.Ser588Pro)
c.1669T>C (p.Ser557Pro)
c.1768T>C (p.Ser590Pro)
c.1798T>C (p.Ser600Pro)
c.1789T>C (p.Ser597Pro)
c.1759T>C (p.Ser587Pro)
c.1702T>C (p.Ser568Pro)
c.1648T>C (p.Ser550Pro)
c.1441T>C (p.Ser481Pro)
c.1855T>C (p.Ser619Pro)
c.1849T>C (p.Ser617Pro)
c.1846T>C (p.Ser616Pro)
c.1906T>C (p.Ser636Pro)
c.1897T>C (p.Ser633Pro)
c.1816T>C (p.Ser606Pro)
c.1765T>C (p.Ser589Pro)
14g.33800054T>GCA389412167NPAS3c.1747T>G (p.Ser583Ala)
c.1756T>G (p.Ser586Ala)
c.1647T>G
c.793+2473T>G
c.1651T>G (p.Ser551Ala)
c.1708T>G (p.Ser570Ala)
c.1657T>G (p.Ser553Ala)
c.1762T>G (p.Ser588Ala)
c.1669T>G (p.Ser557Ala)
c.1768T>G (p.Ser590Ala)
c.1798T>G (p.Ser600Ala)
c.1789T>G (p.Ser597Ala)
c.1759T>G (p.Ser587Ala)
c.1702T>G (p.Ser568Ala)
c.1648T>G (p.Ser550Ala)
c.1441T>G (p.Ser481Ala)
c.1855T>G (p.Ser619Ala)
c.1849T>G (p.Ser617Ala)
c.1846T>G (p.Ser616Ala)
c.1906T>G (p.Ser636Ala)
c.1897T>G (p.Ser633Ala)
c.1816T>G (p.Ser606Ala)
c.1765T>G (p.Ser589Ala)
14g.33800055C>ACA389412170NPAS3c.1748C>A (p.Ser583Ter)
c.1757C>A (p.Ser586Ter)
c.1648C>A
c.793+2474C>A
c.1652C>A (p.Ser551Ter)
c.1709C>A (p.Ser570Ter)
c.1658C>A (p.Ser553Ter)
c.1763C>A (p.Ser588Ter)
c.1670C>A (p.Ser557Ter)
c.1769C>A (p.Ser590Ter)
c.1799C>A (p.Ser600Ter)
c.1790C>A (p.Ser597Ter)
c.1760C>A (p.Ser587Ter)
c.1703C>A (p.Ser568Ter)
c.1649C>A (p.Ser550Ter)
c.1442C>A (p.Ser481Ter)
c.1856C>A (p.Ser619Ter)
c.1850C>A (p.Ser617Ter)
c.1847C>A (p.Ser616Ter)
c.1907C>A (p.Ser636Ter)
c.1898C>A (p.Ser633Ter)
c.1817C>A (p.Ser606Ter)
c.1766C>A (p.Ser589Ter)
14g.33800055C=CA2128326773NPAS3c.1748C= (p.Ser583=)
c.1757C= (p.Ser586=)
c.1648C=
c.793+2474C=
c.1652C= (p.Ser551=)
c.1709C= (p.Ser570=)
c.1658C= (p.Ser553=)
c.1763C= (p.Ser588=)
c.1670C= (p.Ser557=)
c.1769C= (p.Ser590=)
c.1799C= (p.Ser600=)
c.1790C= (p.Ser597=)
c.1760C= (p.Ser587=)
c.1703C= (p.Ser568=)
c.1649C= (p.Ser550=)
c.1442C= (p.Ser481=)
c.1856C= (p.Ser619=)
c.1850C= (p.Ser617=)
c.1847C= (p.Ser616=)
c.1907C= (p.Ser636=)
c.1898C= (p.Ser633=)
c.1817C= (p.Ser606=)
c.1766C= (p.Ser589=)
14g.33800055C>GCA389412173NPAS3c.1748C>G (p.Ser583Trp)
c.1757C>G (p.Ser586Trp)
c.1648C>G
c.793+2474C>G
c.1652C>G (p.Ser551Trp)
c.1709C>G (p.Ser570Trp)
c.1658C>G (p.Ser553Trp)
c.1763C>G (p.Ser588Trp)
c.1670C>G (p.Ser557Trp)
c.1769C>G (p.Ser590Trp)
c.1799C>G (p.Ser600Trp)
c.1790C>G (p.Ser597Trp)
c.1760C>G (p.Ser587Trp)
c.1703C>G (p.Ser568Trp)
c.1649C>G (p.Ser550Trp)
c.1442C>G (p.Ser481Trp)
c.1856C>G (p.Ser619Trp)
c.1850C>G (p.Ser617Trp)
c.1847C>G (p.Ser616Trp)
c.1907C>G (p.Ser636Trp)
c.1898C>G (p.Ser633Trp)
c.1817C>G (p.Ser606Trp)
c.1766C>G (p.Ser589Trp)
14g.33800055C>TCA389412174NPAS3c.1748C>T (p.Ser583Leu)
c.1757C>T (p.Ser586Leu)
c.1648C>T
c.793+2474C>T
c.1652C>T (p.Ser551Leu)
c.1709C>T (p.Ser570Leu)
c.1658C>T (p.Ser553Leu)
c.1763C>T (p.Ser588Leu)
c.1670C>T (p.Ser557Leu)
c.1769C>T (p.Ser590Leu)
c.1799C>T (p.Ser600Leu)
c.1790C>T (p.Ser597Leu)
c.1760C>T (p.Ser587Leu)
c.1703C>T (p.Ser568Leu)
c.1649C>T (p.Ser550Leu)
c.1442C>T (p.Ser481Leu)
c.1856C>T (p.Ser619Leu)
c.1850C>T (p.Ser617Leu)
c.1847C>T (p.Ser616Leu)
c.1907C>T (p.Ser636Leu)
c.1898C>T (p.Ser633Leu)
c.1817C>T (p.Ser606Leu)
c.1766C>T (p.Ser589Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800056G>ACA486092953NPAS3c.1749G>A (p.Ser583=)
c.1758G>A (p.Ser586=)
c.1649G>A
c.793+2475G>A
c.1653G>A (p.Ser551=)
c.1710G>A (p.Ser570=)
c.1659G>A (p.Ser553=)
c.1764G>A (p.Ser588=)
c.1671G>A (p.Ser557=)
c.1770G>A (p.Ser590=)
c.1800G>A (p.Ser600=)
c.1791G>A (p.Ser597=)
c.1761G>A (p.Ser587=)
c.1704G>A (p.Ser568=)
c.1650G>A (p.Ser550=)
c.1443G>A (p.Ser481=)
c.1857G>A (p.Ser619=)
c.1851G>A (p.Ser617=)
c.1848G>A (p.Ser616=)
c.1908G>A (p.Ser636=)
c.1899G>A (p.Ser633=)
c.1818G>A (p.Ser606=)
c.1767G>A (p.Ser589=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800056G>CCA486092954NPAS3c.1749G>C (p.Ser583=)
c.1758G>C (p.Ser586=)
c.1649G>C
c.793+2475G>C
c.1653G>C (p.Ser551=)
c.1710G>C (p.Ser570=)
c.1659G>C (p.Ser553=)
c.1764G>C (p.Ser588=)
c.1671G>C (p.Ser557=)
c.1770G>C (p.Ser590=)
c.1800G>C (p.Ser600=)
c.1791G>C (p.Ser597=)
c.1761G>C (p.Ser587=)
c.1704G>C (p.Ser568=)
c.1650G>C (p.Ser550=)
c.1443G>C (p.Ser481=)
c.1857G>C (p.Ser619=)
c.1851G>C (p.Ser617=)
c.1848G>C (p.Ser616=)
c.1908G>C (p.Ser636=)
c.1899G>C (p.Ser633=)
c.1818G>C (p.Ser606=)
c.1767G>C (p.Ser589=)
14g.33800056G=CA2128326775NPAS3c.1749G= (p.Ser583=)
c.1758G= (p.Ser586=)
c.1649G=
c.793+2475G=
c.1653G= (p.Ser551=)
c.1710G= (p.Ser570=)
c.1659G= (p.Ser553=)
c.1764G= (p.Ser588=)
c.1671G= (p.Ser557=)
c.1770G= (p.Ser590=)
c.1800G= (p.Ser600=)
c.1791G= (p.Ser597=)
c.1761G= (p.Ser587=)
c.1704G= (p.Ser568=)
c.1650G= (p.Ser550=)
c.1443G= (p.Ser481=)
c.1857G= (p.Ser619=)
c.1851G= (p.Ser617=)
c.1848G= (p.Ser616=)
c.1908G= (p.Ser636=)
c.1899G= (p.Ser633=)
c.1818G= (p.Ser606=)
c.1767G= (p.Ser589=)
14g.33800056G>TCA486092955NPAS3c.1749G>T (p.Ser583=)
c.1758G>T (p.Ser586=)
c.1649G>T
c.793+2475G>T
c.1653G>T (p.Ser551=)
c.1710G>T (p.Ser570=)
c.1659G>T (p.Ser553=)
c.1764G>T (p.Ser588=)
c.1671G>T (p.Ser557=)
c.1770G>T (p.Ser590=)
c.1800G>T (p.Ser600=)
c.1791G>T (p.Ser597=)
c.1761G>T (p.Ser587=)
c.1704G>T (p.Ser568=)
c.1650G>T (p.Ser550=)
c.1443G>T (p.Ser481=)
c.1857G>T (p.Ser619=)
c.1851G>T (p.Ser617=)
c.1848G>T (p.Ser616=)
c.1908G>T (p.Ser636=)
c.1899G>T (p.Ser633=)
c.1818G>T (p.Ser606=)
c.1767G>T (p.Ser589=)
 gnomAD v4
14g.33800057G>ACA389412182NPAS3c.1750G>A (p.Asp584Asn)
c.1759G>A (p.Asp587Asn)
c.1650G>A
c.793+2476G>A
c.1654G>A (p.Asp552Asn)
c.1711G>A (p.Asp571Asn)
c.1660G>A (p.Asp554Asn)
c.1765G>A (p.Asp589Asn)
c.1672G>A (p.Asp558Asn)
c.1771G>A (p.Asp591Asn)
c.1801G>A (p.Asp601Asn)
c.1792G>A (p.Asp598Asn)
c.1762G>A (p.Asp588Asn)
c.1705G>A (p.Asp569Asn)
c.1651G>A (p.Asp551Asn)
c.1444G>A (p.Asp482Asn)
c.1858G>A (p.Asp620Asn)
c.1852G>A (p.Asp618Asn)
c.1849G>A (p.Asp617Asn)
c.1909G>A (p.Asp637Asn)
c.1900G>A (p.Asp634Asn)
c.1819G>A (p.Asp607Asn)
c.1768G>A (p.Asp590Asn)
14g.33800057G>CCA389412177NPAS3c.1750G>C (p.Asp584His)
c.1759G>C (p.Asp587His)
c.1650G>C
c.793+2476G>C
c.1654G>C (p.Asp552His)
c.1711G>C (p.Asp571His)
c.1660G>C (p.Asp554His)
c.1765G>C (p.Asp589His)
c.1672G>C (p.Asp558His)
c.1771G>C (p.Asp591His)
c.1801G>C (p.Asp601His)
c.1792G>C (p.Asp598His)
c.1762G>C (p.Asp588His)
c.1705G>C (p.Asp569His)
c.1651G>C (p.Asp551His)
c.1444G>C (p.Asp482His)
c.1858G>C (p.Asp620His)
c.1852G>C (p.Asp618His)
c.1849G>C (p.Asp617His)
c.1909G>C (p.Asp637His)
c.1900G>C (p.Asp634His)
c.1819G>C (p.Asp607His)
c.1768G>C (p.Asp590His)
14g.33800057G>TCA389412175NPAS3c.1750G>T (p.Asp584Tyr)
c.1759G>T (p.Asp587Tyr)
c.1650G>T
c.793+2476G>T
c.1654G>T (p.Asp552Tyr)
c.1711G>T (p.Asp571Tyr)
c.1660G>T (p.Asp554Tyr)
c.1765G>T (p.Asp589Tyr)
c.1672G>T (p.Asp558Tyr)
c.1771G>T (p.Asp591Tyr)
c.1801G>T (p.Asp601Tyr)
c.1792G>T (p.Asp598Tyr)
c.1762G>T (p.Asp588Tyr)
c.1705G>T (p.Asp569Tyr)
c.1651G>T (p.Asp551Tyr)
c.1444G>T (p.Asp482Tyr)
c.1858G>T (p.Asp620Tyr)
c.1852G>T (p.Asp618Tyr)
c.1849G>T (p.Asp617Tyr)
c.1909G>T (p.Asp637Tyr)
c.1900G>T (p.Asp634Tyr)
c.1819G>T (p.Asp607Tyr)
c.1768G>T (p.Asp590Tyr)
14g.33800058A=CA2128326777NPAS3c.1751A= (p.Asp584=)
c.1760A= (p.Asp587=)
c.1651A=
c.793+2477A=
c.1655A= (p.Asp552=)
c.1712A= (p.Asp571=)
c.1661A= (p.Asp554=)
c.1766A= (p.Asp589=)
c.1673A= (p.Asp558=)
c.1772A= (p.Asp591=)
c.1802A= (p.Asp601=)
c.1793A= (p.Asp598=)
c.1763A= (p.Asp588=)
c.1706A= (p.Asp569=)
c.1652A= (p.Asp551=)
c.1445A= (p.Asp482=)
c.1859A= (p.Asp620=)
c.1853A= (p.Asp618=)
c.1850A= (p.Asp617=)
c.1910A= (p.Asp637=)
c.1901A= (p.Asp634=)
c.1820A= (p.Asp607=)
c.1769A= (p.Asp590=)
14g.33800058A>CCA389412185NPAS3c.1751A>C (p.Asp584Ala)
c.1760A>C (p.Asp587Ala)
c.1651A>C
c.793+2477A>C
c.1655A>C (p.Asp552Ala)
c.1712A>C (p.Asp571Ala)
c.1661A>C (p.Asp554Ala)
c.1766A>C (p.Asp589Ala)
c.1673A>C (p.Asp558Ala)
c.1772A>C (p.Asp591Ala)
c.1802A>C (p.Asp601Ala)
c.1793A>C (p.Asp598Ala)
c.1763A>C (p.Asp588Ala)
c.1706A>C (p.Asp569Ala)
c.1652A>C (p.Asp551Ala)
c.1445A>C (p.Asp482Ala)
c.1859A>C (p.Asp620Ala)
c.1853A>C (p.Asp618Ala)
c.1850A>C (p.Asp617Ala)
c.1910A>C (p.Asp637Ala)
c.1901A>C (p.Asp634Ala)
c.1820A>C (p.Asp607Ala)
c.1769A>C (p.Asp590Ala)
14g.33800058A>GCA389412187NPAS3c.1751A>G (p.Asp584Gly)
c.1760A>G (p.Asp587Gly)
c.1651A>G
c.793+2477A>G
c.1655A>G (p.Asp552Gly)
c.1712A>G (p.Asp571Gly)
c.1661A>G (p.Asp554Gly)
c.1766A>G (p.Asp589Gly)
c.1673A>G (p.Asp558Gly)
c.1772A>G (p.Asp591Gly)
c.1802A>G (p.Asp601Gly)
c.1793A>G (p.Asp598Gly)
c.1763A>G (p.Asp588Gly)
c.1706A>G (p.Asp569Gly)
c.1652A>G (p.Asp551Gly)
c.1445A>G (p.Asp482Gly)
c.1859A>G (p.Asp620Gly)
c.1853A>G (p.Asp618Gly)
c.1850A>G (p.Asp617Gly)
c.1910A>G (p.Asp637Gly)
c.1901A>G (p.Asp634Gly)
c.1820A>G (p.Asp607Gly)
c.1769A>G (p.Asp590Gly)
 dbSNP gnomAD v2 gnomAD v4
14g.33800058A>TCA389412189NPAS3c.1751A>T (p.Asp584Val)
c.1760A>T (p.Asp587Val)
c.1651A>T
c.793+2477A>T
c.1655A>T (p.Asp552Val)
c.1712A>T (p.Asp571Val)
c.1661A>T (p.Asp554Val)
c.1766A>T (p.Asp589Val)
c.1673A>T (p.Asp558Val)
c.1772A>T (p.Asp591Val)
c.1802A>T (p.Asp601Val)
c.1793A>T (p.Asp598Val)
c.1763A>T (p.Asp588Val)
c.1706A>T (p.Asp569Val)
c.1652A>T (p.Asp551Val)
c.1445A>T (p.Asp482Val)
c.1859A>T (p.Asp620Val)
c.1853A>T (p.Asp618Val)
c.1850A>T (p.Asp617Val)
c.1910A>T (p.Asp637Val)
c.1901A>T (p.Asp634Val)
c.1820A>T (p.Asp607Val)
c.1769A>T (p.Asp590Val)
 gnomAD v4
14g.33800059C>ACA389412192NPAS3c.1752C>A (p.Asp584Glu)
c.1761C>A (p.Asp587Glu)
c.1652C>A
c.793+2478C>A
c.1656C>A (p.Asp552Glu)
c.1713C>A (p.Asp571Glu)
c.1662C>A (p.Asp554Glu)
c.1767C>A (p.Asp589Glu)
c.1674C>A (p.Asp558Glu)
c.1773C>A (p.Asp591Glu)
c.1803C>A (p.Asp601Glu)
c.1794C>A (p.Asp598Glu)
c.1764C>A (p.Asp588Glu)
c.1707C>A (p.Asp569Glu)
c.1653C>A (p.Asp551Glu)
c.1446C>A (p.Asp482Glu)
c.1860C>A (p.Asp620Glu)
c.1854C>A (p.Asp618Glu)
c.1851C>A (p.Asp617Glu)
c.1911C>A (p.Asp637Glu)
c.1902C>A (p.Asp634Glu)
c.1821C>A (p.Asp607Glu)
c.1770C>A (p.Asp590Glu)
14g.33800059C=CA2128326779NPAS3c.1752C= (p.Asp584=)
c.1761C= (p.Asp587=)
c.1652C=
c.793+2478C=
c.1656C= (p.Asp552=)
c.1713C= (p.Asp571=)
c.1662C= (p.Asp554=)
c.1767C= (p.Asp589=)
c.1674C= (p.Asp558=)
c.1773C= (p.Asp591=)
c.1803C= (p.Asp601=)
c.1794C= (p.Asp598=)
c.1764C= (p.Asp588=)
c.1707C= (p.Asp569=)
c.1653C= (p.Asp551=)
c.1446C= (p.Asp482=)
c.1860C= (p.Asp620=)
c.1854C= (p.Asp618=)
c.1851C= (p.Asp617=)
c.1911C= (p.Asp637=)
c.1902C= (p.Asp634=)
c.1821C= (p.Asp607=)
c.1770C= (p.Asp590=)
14g.33800059C>GCA389412193NPAS3c.1752C>G (p.Asp584Glu)
c.1761C>G (p.Asp587Glu)
c.1652C>G
c.793+2478C>G
c.1656C>G (p.Asp552Glu)
c.1713C>G (p.Asp571Glu)
c.1662C>G (p.Asp554Glu)
c.1767C>G (p.Asp589Glu)
c.1674C>G (p.Asp558Glu)
c.1773C>G (p.Asp591Glu)
c.1803C>G (p.Asp601Glu)
c.1794C>G (p.Asp598Glu)
c.1764C>G (p.Asp588Glu)
c.1707C>G (p.Asp569Glu)
c.1653C>G (p.Asp551Glu)
c.1446C>G (p.Asp482Glu)
c.1860C>G (p.Asp620Glu)
c.1854C>G (p.Asp618Glu)
c.1851C>G (p.Asp617Glu)
c.1911C>G (p.Asp637Glu)
c.1902C>G (p.Asp634Glu)
c.1821C>G (p.Asp607Glu)
c.1770C>G (p.Asp590Glu)
 dbSNP gnomAD v4
14g.33800059C>TCA7150868NPAS3c.1752C>T (p.Asp584=)
c.1761C>T (p.Asp587=)
c.1652C>T
c.793+2478C>T
c.1656C>T (p.Asp552=)
c.1713C>T (p.Asp571=)
c.1662C>T (p.Asp554=)
c.1767C>T (p.Asp589=)
c.1674C>T (p.Asp558=)
c.1773C>T (p.Asp591=)
c.1803C>T (p.Asp601=)
c.1794C>T (p.Asp598=)
c.1764C>T (p.Asp588=)
c.1707C>T (p.Asp569=)
c.1653C>T (p.Asp551=)
c.1446C>T (p.Asp482=)
c.1860C>T (p.Asp620=)
c.1854C>T (p.Asp618=)
c.1851C>T (p.Asp617=)
c.1911C>T (p.Asp637=)
c.1902C>T (p.Asp634=)
c.1821C>T (p.Asp607=)
c.1770C>T (p.Asp590=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800060A>CCA389412196NPAS3c.1753A>C (p.Ser585Arg)
c.1762A>C (p.Ser588Arg)
c.1653A>C
c.793+2479A>C
c.1657A>C (p.Ser553Arg)
c.1714A>C (p.Ser572Arg)
c.1663A>C (p.Ser555Arg)
c.1768A>C (p.Ser590Arg)
c.1675A>C (p.Ser559Arg)
c.1774A>C (p.Ser592Arg)
c.1804A>C (p.Ser602Arg)
c.1795A>C (p.Ser599Arg)
c.1765A>C (p.Ser589Arg)
c.1708A>C (p.Ser570Arg)
c.1654A>C (p.Ser552Arg)
c.1447A>C (p.Ser483Arg)
c.1861A>C (p.Ser621Arg)
c.1855A>C (p.Ser619Arg)
c.1852A>C (p.Ser618Arg)
c.1912A>C (p.Ser638Arg)
c.1903A>C (p.Ser635Arg)
c.1822A>C (p.Ser608Arg)
c.1771A>C (p.Ser591Arg)
14g.33800060A>GCA389412199NPAS3c.1753A>G (p.Ser585Gly)
c.1762A>G (p.Ser588Gly)
c.1653A>G
c.793+2479A>G
c.1657A>G (p.Ser553Gly)
c.1714A>G (p.Ser572Gly)
c.1663A>G (p.Ser555Gly)
c.1768A>G (p.Ser590Gly)
c.1675A>G (p.Ser559Gly)
c.1774A>G (p.Ser592Gly)
c.1804A>G (p.Ser602Gly)
c.1795A>G (p.Ser599Gly)
c.1765A>G (p.Ser589Gly)
c.1708A>G (p.Ser570Gly)
c.1654A>G (p.Ser552Gly)
c.1447A>G (p.Ser483Gly)
c.1861A>G (p.Ser621Gly)
c.1855A>G (p.Ser619Gly)
c.1852A>G (p.Ser618Gly)
c.1912A>G (p.Ser638Gly)
c.1903A>G (p.Ser635Gly)
c.1822A>G (p.Ser608Gly)
c.1771A>G (p.Ser591Gly)
14g.33800060A>TCA389412198NPAS3c.1753A>T (p.Ser585Cys)
c.1762A>T (p.Ser588Cys)
c.1653A>T
c.793+2479A>T
c.1657A>T (p.Ser553Cys)
c.1714A>T (p.Ser572Cys)
c.1663A>T (p.Ser555Cys)
c.1768A>T (p.Ser590Cys)
c.1675A>T (p.Ser559Cys)
c.1774A>T (p.Ser592Cys)
c.1804A>T (p.Ser602Cys)
c.1795A>T (p.Ser599Cys)
c.1765A>T (p.Ser589Cys)
c.1708A>T (p.Ser570Cys)
c.1654A>T (p.Ser552Cys)
c.1447A>T (p.Ser483Cys)
c.1861A>T (p.Ser621Cys)
c.1855A>T (p.Ser619Cys)
c.1852A>T (p.Ser618Cys)
c.1912A>T (p.Ser638Cys)
c.1903A>T (p.Ser635Cys)
c.1822A>T (p.Ser608Cys)
c.1771A>T (p.Ser591Cys)
14g.33800061G>ACA389412200NPAS3c.1754G>A (p.Ser585Asn)
c.1763G>A (p.Ser588Asn)
c.1654G>A
c.793+2480G>A
c.1658G>A (p.Ser553Asn)
c.1715G>A (p.Ser572Asn)
c.1664G>A (p.Ser555Asn)
c.1769G>A (p.Ser590Asn)
c.1676G>A (p.Ser559Asn)
c.1775G>A (p.Ser592Asn)
c.1805G>A (p.Ser602Asn)
c.1796G>A (p.Ser599Asn)
c.1766G>A (p.Ser589Asn)
c.1709G>A (p.Ser570Asn)
c.1655G>A (p.Ser552Asn)
c.1448G>A (p.Ser483Asn)
c.1862G>A (p.Ser621Asn)
c.1856G>A (p.Ser619Asn)
c.1853G>A (p.Ser618Asn)
c.1913G>A (p.Ser638Asn)
c.1904G>A (p.Ser635Asn)
c.1823G>A (p.Ser608Asn)
c.1772G>A (p.Ser591Asn)
 gnomAD v4
14g.33800061G>CCA389412202NPAS3c.1754G>C (p.Ser585Thr)
c.1763G>C (p.Ser588Thr)
c.1654G>C
c.793+2480G>C
c.1658G>C (p.Ser553Thr)
c.1715G>C (p.Ser572Thr)
c.1664G>C (p.Ser555Thr)
c.1769G>C (p.Ser590Thr)
c.1676G>C (p.Ser559Thr)
c.1775G>C (p.Ser592Thr)
c.1805G>C (p.Ser602Thr)
c.1796G>C (p.Ser599Thr)
c.1766G>C (p.Ser589Thr)
c.1709G>C (p.Ser570Thr)
c.1655G>C (p.Ser552Thr)
c.1448G>C (p.Ser483Thr)
c.1862G>C (p.Ser621Thr)
c.1856G>C (p.Ser619Thr)
c.1853G>C (p.Ser618Thr)
c.1913G>C (p.Ser638Thr)
c.1904G>C (p.Ser635Thr)
c.1823G>C (p.Ser608Thr)
c.1772G>C (p.Ser591Thr)
14g.33800061G>TCA389412204NPAS3c.1754G>T (p.Ser585Ile)
c.1763G>T (p.Ser588Ile)
c.1654G>T
c.793+2480G>T
c.1658G>T (p.Ser553Ile)
c.1715G>T (p.Ser572Ile)
c.1664G>T (p.Ser555Ile)
c.1769G>T (p.Ser590Ile)
c.1676G>T (p.Ser559Ile)
c.1775G>T (p.Ser592Ile)
c.1805G>T (p.Ser602Ile)
c.1796G>T (p.Ser599Ile)
c.1766G>T (p.Ser589Ile)
c.1709G>T (p.Ser570Ile)
c.1655G>T (p.Ser552Ile)
c.1448G>T (p.Ser483Ile)
c.1862G>T (p.Ser621Ile)
c.1856G>T (p.Ser619Ile)
c.1853G>T (p.Ser618Ile)
c.1913G>T (p.Ser638Ile)
c.1904G>T (p.Ser635Ile)
c.1823G>T (p.Ser608Ile)
c.1772G>T (p.Ser591Ile)
 gnomAD v4
14g.33800062C>ACA389412206NPAS3c.1755C>A (p.Ser585Arg)
c.1764C>A (p.Ser588Arg)
c.1655C>A
c.793+2481C>A
c.1659C>A (p.Ser553Arg)
c.1716C>A (p.Ser572Arg)
c.1665C>A (p.Ser555Arg)
c.1770C>A (p.Ser590Arg)
c.1677C>A (p.Ser559Arg)
c.1776C>A (p.Ser592Arg)
c.1806C>A (p.Ser602Arg)
c.1797C>A (p.Ser599Arg)
c.1767C>A (p.Ser589Arg)
c.1710C>A (p.Ser570Arg)
c.1656C>A (p.Ser552Arg)
c.1449C>A (p.Ser483Arg)
c.1863C>A (p.Ser621Arg)
c.1857C>A (p.Ser619Arg)
c.1854C>A (p.Ser618Arg)
c.1914C>A (p.Ser638Arg)
c.1905C>A (p.Ser635Arg)
c.1824C>A (p.Ser608Arg)
c.1773C>A (p.Ser591Arg)
 dbSNP gnomAD v3 gnomAD v4
14g.33800062C=CA2128326787NPAS3c.1755C= (p.Ser585=)
c.1764C= (p.Ser588=)
c.1655C=
c.793+2481C=
c.1659C= (p.Ser553=)
c.1716C= (p.Ser572=)
c.1665C= (p.Ser555=)
c.1770C= (p.Ser590=)
c.1677C= (p.Ser559=)
c.1776C= (p.Ser592=)
c.1806C= (p.Ser602=)
c.1797C= (p.Ser599=)
c.1767C= (p.Ser589=)
c.1710C= (p.Ser570=)
c.1656C= (p.Ser552=)
c.1449C= (p.Ser483=)
c.1863C= (p.Ser621=)
c.1857C= (p.Ser619=)
c.1854C= (p.Ser618=)
c.1914C= (p.Ser638=)
c.1905C= (p.Ser635=)
c.1824C= (p.Ser608=)
c.1773C= (p.Ser591=)
14g.33800062C>GCA389412209NPAS3c.1755C>G (p.Ser585Arg)
c.1764C>G (p.Ser588Arg)
c.1655C>G
c.793+2481C>G
c.1659C>G (p.Ser553Arg)
c.1716C>G (p.Ser572Arg)
c.1665C>G (p.Ser555Arg)
c.1770C>G (p.Ser590Arg)
c.1677C>G (p.Ser559Arg)
c.1776C>G (p.Ser592Arg)
c.1806C>G (p.Ser602Arg)
c.1797C>G (p.Ser599Arg)
c.1767C>G (p.Ser589Arg)
c.1710C>G (p.Ser570Arg)
c.1656C>G (p.Ser552Arg)
c.1449C>G (p.Ser483Arg)
c.1863C>G (p.Ser621Arg)
c.1857C>G (p.Ser619Arg)
c.1854C>G (p.Ser618Arg)
c.1914C>G (p.Ser638Arg)
c.1905C>G (p.Ser635Arg)
c.1824C>G (p.Ser608Arg)
c.1773C>G (p.Ser591Arg)
14g.33800062C>TCA486092961NPAS3c.1755C>T (p.Ser585=)
c.1764C>T (p.Ser588=)
c.1655C>T
c.793+2481C>T
c.1659C>T (p.Ser553=)
c.1716C>T (p.Ser572=)
c.1665C>T (p.Ser555=)
c.1770C>T (p.Ser590=)
c.1677C>T (p.Ser559=)
c.1776C>T (p.Ser592=)
c.1806C>T (p.Ser602=)
c.1797C>T (p.Ser599=)
c.1767C>T (p.Ser589=)
c.1710C>T (p.Ser570=)
c.1656C>T (p.Ser552=)
c.1449C>T (p.Ser483=)
c.1863C>T (p.Ser621=)
c.1857C>T (p.Ser619=)
c.1854C>T (p.Ser618=)
c.1914C>T (p.Ser638=)
c.1905C>T (p.Ser635=)
c.1824C>T (p.Ser608=)
c.1773C>T (p.Ser591=)
 dbSNP gnomAD v4
14g.33800063G>ACA7150869NPAS3c.1756G>A (p.Ala586Thr)
c.1765G>A (p.Ala589Thr)
c.1656G>A
c.793+2482G>A
c.1660G>A (p.Ala554Thr)
c.1717G>A (p.Ala573Thr)
c.1666G>A (p.Ala556Thr)
c.1771G>A (p.Ala591Thr)
c.1678G>A (p.Ala560Thr)
c.1777G>A (p.Ala593Thr)
c.1807G>A (p.Ala603Thr)
c.1798G>A (p.Ala600Thr)
c.1768G>A (p.Ala590Thr)
c.1711G>A (p.Ala571Thr)
c.1657G>A (p.Ala553Thr)
c.1450G>A (p.Ala484Thr)
c.1864G>A (p.Ala622Thr)
c.1858G>A (p.Ala620Thr)
c.1855G>A (p.Ala619Thr)
c.1915G>A (p.Ala639Thr)
c.1906G>A (p.Ala636Thr)
c.1825G>A (p.Ala609Thr)
c.1774G>A (p.Ala592Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800063G>CCA389412215NPAS3c.1756G>C (p.Ala586Pro)
c.1765G>C (p.Ala589Pro)
c.1656G>C
c.793+2482G>C
c.1660G>C (p.Ala554Pro)
c.1717G>C (p.Ala573Pro)
c.1666G>C (p.Ala556Pro)
c.1771G>C (p.Ala591Pro)
c.1678G>C (p.Ala560Pro)
c.1777G>C (p.Ala593Pro)
c.1807G>C (p.Ala603Pro)
c.1798G>C (p.Ala600Pro)
c.1768G>C (p.Ala590Pro)
c.1711G>C (p.Ala571Pro)
c.1657G>C (p.Ala553Pro)
c.1450G>C (p.Ala484Pro)
c.1864G>C (p.Ala622Pro)
c.1858G>C (p.Ala620Pro)
c.1855G>C (p.Ala619Pro)
c.1915G>C (p.Ala639Pro)
c.1906G>C (p.Ala636Pro)
c.1825G>C (p.Ala609Pro)
c.1774G>C (p.Ala592Pro)
14g.33800063G=CA2128326790NPAS3c.1756G= (p.Ala586=)
c.1765G= (p.Ala589=)
c.1656G=
c.793+2482G=
c.1660G= (p.Ala554=)
c.1717G= (p.Ala573=)
c.1666G= (p.Ala556=)
c.1771G= (p.Ala591=)
c.1678G= (p.Ala560=)
c.1777G= (p.Ala593=)
c.1807G= (p.Ala603=)
c.1798G= (p.Ala600=)
c.1768G= (p.Ala590=)
c.1711G= (p.Ala571=)
c.1657G= (p.Ala553=)
c.1450G= (p.Ala484=)
c.1864G= (p.Ala622=)
c.1858G= (p.Ala620=)
c.1855G= (p.Ala619=)
c.1915G= (p.Ala639=)
c.1906G= (p.Ala636=)
c.1825G= (p.Ala609=)
c.1774G= (p.Ala592=)
14g.33800063G>TCA389412218NPAS3c.1756G>T (p.Ala586Ser)
c.1765G>T (p.Ala589Ser)
c.1656G>T
c.793+2482G>T
c.1660G>T (p.Ala554Ser)
c.1717G>T (p.Ala573Ser)
c.1666G>T (p.Ala556Ser)
c.1771G>T (p.Ala591Ser)
c.1678G>T (p.Ala560Ser)
c.1777G>T (p.Ala593Ser)
c.1807G>T (p.Ala603Ser)
c.1798G>T (p.Ala600Ser)
c.1768G>T (p.Ala590Ser)
c.1711G>T (p.Ala571Ser)
c.1657G>T (p.Ala553Ser)
c.1450G>T (p.Ala484Ser)
c.1864G>T (p.Ala622Ser)
c.1858G>T (p.Ala620Ser)
c.1855G>T (p.Ala619Ser)
c.1915G>T (p.Ala639Ser)
c.1906G>T (p.Ala636Ser)
c.1825G>T (p.Ala609Ser)
c.1774G>T (p.Ala592Ser)
 gnomAD v4
14g.33800064C>ACA389412219NPAS3c.1757C>A (p.Ala586Glu)
c.1766C>A (p.Ala589Glu)
c.1657C>A
c.793+2483C>A
c.1661C>A (p.Ala554Glu)
c.1718C>A (p.Ala573Glu)
c.1667C>A (p.Ala556Glu)
c.1772C>A (p.Ala591Glu)
c.1679C>A (p.Ala560Glu)
c.1778C>A (p.Ala593Glu)
c.1808C>A (p.Ala603Glu)
c.1799C>A (p.Ala600Glu)
c.1769C>A (p.Ala590Glu)
c.1712C>A (p.Ala571Glu)
c.1658C>A (p.Ala553Glu)
c.1451C>A (p.Ala484Glu)
c.1865C>A (p.Ala622Glu)
c.1859C>A (p.Ala620Glu)
c.1856C>A (p.Ala619Glu)
c.1916C>A (p.Ala639Glu)
c.1907C>A (p.Ala636Glu)
c.1826C>A (p.Ala609Glu)
c.1775C>A (p.Ala592Glu)
 dbSNP gnomAD v2
14g.33800064C=CA2128326792NPAS3c.1757C= (p.Ala586=)
c.1766C= (p.Ala589=)
c.1657C=
c.793+2483C=
c.1661C= (p.Ala554=)
c.1718C= (p.Ala573=)
c.1667C= (p.Ala556=)
c.1772C= (p.Ala591=)
c.1679C= (p.Ala560=)
c.1778C= (p.Ala593=)
c.1808C= (p.Ala603=)
c.1799C= (p.Ala600=)
c.1769C= (p.Ala590=)
c.1712C= (p.Ala571=)
c.1658C= (p.Ala553=)
c.1451C= (p.Ala484=)
c.1865C= (p.Ala622=)
c.1859C= (p.Ala620=)
c.1856C= (p.Ala619=)
c.1916C= (p.Ala639=)
c.1907C= (p.Ala636=)
c.1826C= (p.Ala609=)
c.1775C= (p.Ala592=)
14g.33800064C>GCA389412220NPAS3c.1757C>G (p.Ala586Gly)
c.1766C>G (p.Ala589Gly)
c.1657C>G
c.793+2483C>G
c.1661C>G (p.Ala554Gly)
c.1718C>G (p.Ala573Gly)
c.1667C>G (p.Ala556Gly)
c.1772C>G (p.Ala591Gly)
c.1679C>G (p.Ala560Gly)
c.1778C>G (p.Ala593Gly)
c.1808C>G (p.Ala603Gly)
c.1799C>G (p.Ala600Gly)
c.1769C>G (p.Ala590Gly)
c.1712C>G (p.Ala571Gly)
c.1658C>G (p.Ala553Gly)
c.1451C>G (p.Ala484Gly)
c.1865C>G (p.Ala622Gly)
c.1859C>G (p.Ala620Gly)
c.1856C>G (p.Ala619Gly)
c.1916C>G (p.Ala639Gly)
c.1907C>G (p.Ala636Gly)
c.1826C>G (p.Ala609Gly)
c.1775C>G (p.Ala592Gly)
 gnomAD v4
14g.33800064C>TCA389412221NPAS3c.1757C>T (p.Ala586Val)
c.1766C>T (p.Ala589Val)
c.1657C>T
c.793+2483C>T
c.1661C>T (p.Ala554Val)
c.1718C>T (p.Ala573Val)
c.1667C>T (p.Ala556Val)
c.1772C>T (p.Ala591Val)
c.1679C>T (p.Ala560Val)
c.1778C>T (p.Ala593Val)
c.1808C>T (p.Ala603Val)
c.1799C>T (p.Ala600Val)
c.1769C>T (p.Ala590Val)
c.1712C>T (p.Ala571Val)
c.1658C>T (p.Ala553Val)
c.1451C>T (p.Ala484Val)
c.1865C>T (p.Ala622Val)
c.1859C>T (p.Ala620Val)
c.1856C>T (p.Ala619Val)
c.1916C>T (p.Ala639Val)
c.1907C>T (p.Ala636Val)
c.1826C>T (p.Ala609Val)
c.1775C>T (p.Ala592Val)
14g.33800065A>CCA486092963NPAS3c.1758A>C (p.Ala586=)
c.1767A>C (p.Ala589=)
c.1658A>C
c.793+2484A>C
c.1662A>C (p.Ala554=)
c.1719A>C (p.Ala573=)
c.1668A>C (p.Ala556=)
c.1773A>C (p.Ala591=)
c.1680A>C (p.Ala560=)
c.1779A>C (p.Ala593=)
c.1809A>C (p.Ala603=)
c.1800A>C (p.Ala600=)
c.1770A>C (p.Ala590=)
c.1713A>C (p.Ala571=)
c.1659A>C (p.Ala553=)
c.1452A>C (p.Ala484=)
c.1866A>C (p.Ala622=)
c.1860A>C (p.Ala620=)
c.1857A>C (p.Ala619=)
c.1917A>C (p.Ala639=)
c.1908A>C (p.Ala636=)
c.1827A>C (p.Ala609=)
c.1776A>C (p.Ala592=)
14g.33800065A>GCA486092964NPAS3c.1758A>G (p.Ala586=)
c.1767A>G (p.Ala589=)
c.1658A>G
c.793+2484A>G
c.1662A>G (p.Ala554=)
c.1719A>G (p.Ala573=)
c.1668A>G (p.Ala556=)
c.1773A>G (p.Ala591=)
c.1680A>G (p.Ala560=)
c.1779A>G (p.Ala593=)
c.1809A>G (p.Ala603=)
c.1800A>G (p.Ala600=)
c.1770A>G (p.Ala590=)
c.1713A>G (p.Ala571=)
c.1659A>G (p.Ala553=)
c.1452A>G (p.Ala484=)
c.1866A>G (p.Ala622=)
c.1860A>G (p.Ala620=)
c.1857A>G (p.Ala619=)
c.1917A>G (p.Ala639=)
c.1908A>G (p.Ala636=)
c.1827A>G (p.Ala609=)
c.1776A>G (p.Ala592=)
 gnomAD v4
14g.33800065A>TCA486092965NPAS3c.1758A>T (p.Ala586=)
c.1767A>T (p.Ala589=)
c.1658A>T
c.793+2484A>T
c.1662A>T (p.Ala554=)
c.1719A>T (p.Ala573=)
c.1668A>T (p.Ala556=)
c.1773A>T (p.Ala591=)
c.1680A>T (p.Ala560=)
c.1779A>T (p.Ala593=)
c.1809A>T (p.Ala603=)
c.1800A>T (p.Ala600=)
c.1770A>T (p.Ala590=)
c.1713A>T (p.Ala571=)
c.1659A>T (p.Ala553=)
c.1452A>T (p.Ala484=)
c.1866A>T (p.Ala622=)
c.1860A>T (p.Ala620=)
c.1857A>T (p.Ala619=)
c.1917A>T (p.Ala639=)
c.1908A>T (p.Ala636=)
c.1827A>T (p.Ala609=)
c.1776A>T (p.Ala592=)
14g.33800066G>ACA389412224NPAS3c.1759G>A (p.Gly587Ser)
c.1768G>A (p.Gly590Ser)
c.1659G>A
c.793+2485G>A
c.1663G>A (p.Gly555Ser)
c.1720G>A (p.Gly574Ser)
c.1669G>A (p.Gly557Ser)
c.1774G>A (p.Gly592Ser)
c.1681G>A (p.Gly561Ser)
c.1780G>A (p.Gly594Ser)
c.1810G>A (p.Gly604Ser)
c.1801G>A (p.Gly601Ser)
c.1771G>A (p.Gly591Ser)
c.1714G>A (p.Gly572Ser)
c.1660G>A (p.Gly554Ser)
c.1453G>A (p.Gly485Ser)
c.1867G>A (p.Gly623Ser)
c.1861G>A (p.Gly621Ser)
c.1858G>A (p.Gly620Ser)
c.1918G>A (p.Gly640Ser)
c.1909G>A (p.Gly637Ser)
c.1828G>A (p.Gly610Ser)
c.1777G>A (p.Gly593Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.33800066G>CCA389412226NPAS3c.1759G>C (p.Gly587Arg)
c.1768G>C (p.Gly590Arg)
c.1659G>C
c.793+2485G>C
c.1663G>C (p.Gly555Arg)
c.1720G>C (p.Gly574Arg)
c.1669G>C (p.Gly557Arg)
c.1774G>C (p.Gly592Arg)
c.1681G>C (p.Gly561Arg)
c.1780G>C (p.Gly594Arg)
c.1810G>C (p.Gly604Arg)
c.1801G>C (p.Gly601Arg)
c.1771G>C (p.Gly591Arg)
c.1714G>C (p.Gly572Arg)
c.1660G>C (p.Gly554Arg)
c.1453G>C (p.Gly485Arg)
c.1867G>C (p.Gly623Arg)
c.1861G>C (p.Gly621Arg)
c.1858G>C (p.Gly620Arg)
c.1918G>C (p.Gly640Arg)
c.1909G>C (p.Gly637Arg)
c.1828G>C (p.Gly610Arg)
c.1777G>C (p.Gly593Arg)
 dbSNP
14g.33800066G=CA2128326796NPAS3c.1759G= (p.Gly587=)
c.1768G= (p.Gly590=)
c.1659G=
c.793+2485G=
c.1663G= (p.Gly555=)
c.1720G= (p.Gly574=)
c.1669G= (p.Gly557=)
c.1774G= (p.Gly592=)
c.1681G= (p.Gly561=)
c.1780G= (p.Gly594=)
c.1810G= (p.Gly604=)
c.1801G= (p.Gly601=)
c.1771G= (p.Gly591=)
c.1714G= (p.Gly572=)
c.1660G= (p.Gly554=)
c.1453G= (p.Gly485=)
c.1867G= (p.Gly623=)
c.1861G= (p.Gly621=)
c.1858G= (p.Gly620=)
c.1918G= (p.Gly640=)
c.1909G= (p.Gly637=)
c.1828G= (p.Gly610=)
c.1777G= (p.Gly593=)
14g.33800066G>TCA389412223NPAS3c.1759G>T (p.Gly587Cys)
c.1768G>T (p.Gly590Cys)
c.1659G>T
c.793+2485G>T
c.1663G>T (p.Gly555Cys)
c.1720G>T (p.Gly574Cys)
c.1669G>T (p.Gly557Cys)
c.1774G>T (p.Gly592Cys)
c.1681G>T (p.Gly561Cys)
c.1780G>T (p.Gly594Cys)
c.1810G>T (p.Gly604Cys)
c.1801G>T (p.Gly601Cys)
c.1771G>T (p.Gly591Cys)
c.1714G>T (p.Gly572Cys)
c.1660G>T (p.Gly554Cys)
c.1453G>T (p.Gly485Cys)
c.1867G>T (p.Gly623Cys)
c.1861G>T (p.Gly621Cys)
c.1858G>T (p.Gly620Cys)
c.1918G>T (p.Gly640Cys)
c.1909G>T (p.Gly637Cys)
c.1828G>T (p.Gly610Cys)
c.1777G>T (p.Gly593Cys)
14g.33800067G>ACA389412231NPAS3c.1760G>A (p.Gly587Asp)
c.1769G>A (p.Gly590Asp)
c.1660G>A
c.793+2486G>A
c.1664G>A (p.Gly555Asp)
c.1721G>A (p.Gly574Asp)
c.1670G>A (p.Gly557Asp)
c.1775G>A (p.Gly592Asp)
c.1682G>A (p.Gly561Asp)
c.1781G>A (p.Gly594Asp)
c.1811G>A (p.Gly604Asp)
c.1802G>A (p.Gly601Asp)
c.1772G>A (p.Gly591Asp)
c.1715G>A (p.Gly572Asp)
c.1661G>A (p.Gly554Asp)
c.1454G>A (p.Gly485Asp)
c.1868G>A (p.Gly623Asp)
c.1862G>A (p.Gly621Asp)
c.1859G>A (p.Gly620Asp)
c.1919G>A (p.Gly640Asp)
c.1910G>A (p.Gly637Asp)
c.1829G>A (p.Gly610Asp)
c.1778G>A (p.Gly593Asp)
14g.33800067G>CCA389412238NPAS3c.1760G>C (p.Gly587Ala)
c.1769G>C (p.Gly590Ala)
c.1660G>C
c.793+2486G>C
c.1664G>C (p.Gly555Ala)
c.1721G>C (p.Gly574Ala)
c.1670G>C (p.Gly557Ala)
c.1775G>C (p.Gly592Ala)
c.1682G>C (p.Gly561Ala)
c.1781G>C (p.Gly594Ala)
c.1811G>C (p.Gly604Ala)
c.1802G>C (p.Gly601Ala)
c.1772G>C (p.Gly591Ala)
c.1715G>C (p.Gly572Ala)
c.1661G>C (p.Gly554Ala)
c.1454G>C (p.Gly485Ala)
c.1868G>C (p.Gly623Ala)
c.1862G>C (p.Gly621Ala)
c.1859G>C (p.Gly620Ala)
c.1919G>C (p.Gly640Ala)
c.1910G>C (p.Gly637Ala)
c.1829G>C (p.Gly610Ala)
c.1778G>C (p.Gly593Ala)
14g.33800067G>TCA389412237NPAS3c.1760G>T (p.Gly587Val)
c.1769G>T (p.Gly590Val)
c.1660G>T
c.793+2486G>T
c.1664G>T (p.Gly555Val)
c.1721G>T (p.Gly574Val)
c.1670G>T (p.Gly557Val)
c.1775G>T (p.Gly592Val)
c.1682G>T (p.Gly561Val)
c.1781G>T (p.Gly594Val)
c.1811G>T (p.Gly604Val)
c.1802G>T (p.Gly601Val)
c.1772G>T (p.Gly591Val)
c.1715G>T (p.Gly572Val)
c.1661G>T (p.Gly554Val)
c.1454G>T (p.Gly485Val)
c.1868G>T (p.Gly623Val)
c.1862G>T (p.Gly621Val)
c.1859G>T (p.Gly620Val)
c.1919G>T (p.Gly640Val)
c.1910G>T (p.Gly637Val)
c.1829G>T (p.Gly610Val)
c.1778G>T (p.Gly593Val)
 gnomAD v4
14g.33800068C>ACA486092968NPAS3c.1761C>A (p.Gly587=)
c.1770C>A (p.Gly590=)
c.1661C>A
c.793+2487C>A
c.1665C>A (p.Gly555=)
c.1722C>A (p.Gly574=)
c.1671C>A (p.Gly557=)
c.1776C>A (p.Gly592=)
c.1683C>A (p.Gly561=)
c.1782C>A (p.Gly594=)
c.1812C>A (p.Gly604=)
c.1803C>A (p.Gly601=)
c.1773C>A (p.Gly591=)
c.1716C>A (p.Gly572=)
c.1662C>A (p.Gly554=)
c.1455C>A (p.Gly485=)
c.1869C>A (p.Gly623=)
c.1863C>A (p.Gly621=)
c.1860C>A (p.Gly620=)
c.1920C>A (p.Gly640=)
c.1911C>A (p.Gly637=)
c.1830C>A (p.Gly610=)
c.1779C>A (p.Gly593=)
 gnomAD v4
14g.33800068C=CA2128326800NPAS3c.1761C= (p.Gly587=)
c.1770C= (p.Gly590=)
c.1661C=
c.793+2487C=
c.1665C= (p.Gly555=)
c.1722C= (p.Gly574=)
c.1671C= (p.Gly557=)
c.1776C= (p.Gly592=)
c.1683C= (p.Gly561=)
c.1782C= (p.Gly594=)
c.1812C= (p.Gly604=)
c.1803C= (p.Gly601=)
c.1773C= (p.Gly591=)
c.1716C= (p.Gly572=)
c.1662C= (p.Gly554=)
c.1455C= (p.Gly485=)
c.1869C= (p.Gly623=)
c.1863C= (p.Gly621=)
c.1860C= (p.Gly620=)
c.1920C= (p.Gly640=)
c.1911C= (p.Gly637=)
c.1830C= (p.Gly610=)
c.1779C= (p.Gly593=)
14g.33800068C>GCA486092966NPAS3c.1761C>G (p.Gly587=)
c.1770C>G (p.Gly590=)
c.1661C>G
c.793+2487C>G
c.1665C>G (p.Gly555=)
c.1722C>G (p.Gly574=)
c.1671C>G (p.Gly557=)
c.1776C>G (p.Gly592=)
c.1683C>G (p.Gly561=)
c.1782C>G (p.Gly594=)
c.1812C>G (p.Gly604=)
c.1803C>G (p.Gly601=)
c.1773C>G (p.Gly591=)
c.1716C>G (p.Gly572=)
c.1662C>G (p.Gly554=)
c.1455C>G (p.Gly485=)
c.1869C>G (p.Gly623=)
c.1863C>G (p.Gly621=)
c.1860C>G (p.Gly620=)
c.1920C>G (p.Gly640=)
c.1911C>G (p.Gly637=)
c.1830C>G (p.Gly610=)
c.1779C>G (p.Gly593=)
 dbSNP gnomAD v3 gnomAD v4
14g.33800068C>TCA7150870NPAS3c.1761C>T (p.Gly587=)
c.1770C>T (p.Gly590=)
c.1661C>T
c.793+2487C>T
c.1665C>T (p.Gly555=)
c.1722C>T (p.Gly574=)
c.1671C>T (p.Gly557=)
c.1776C>T (p.Gly592=)
c.1683C>T (p.Gly561=)
c.1782C>T (p.Gly594=)
c.1812C>T (p.Gly604=)
c.1803C>T (p.Gly601=)
c.1773C>T (p.Gly591=)
c.1716C>T (p.Gly572=)
c.1662C>T (p.Gly554=)
c.1455C>T (p.Gly485=)
c.1869C>T (p.Gly623=)
c.1863C>T (p.Gly621=)
c.1860C>T (p.Gly620=)
c.1920C>T (p.Gly640=)
c.1911C>T (p.Gly637=)
c.1830C>T (p.Gly610=)
c.1779C>T (p.Gly593=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800069G>ACA7150871NPAS3c.1762G>A (p.Glu588Lys)
c.1771G>A (p.Glu591Lys)
c.1662G>A
c.793+2488G>A
c.1666G>A (p.Glu556Lys)
c.1723G>A (p.Glu575Lys)
c.1672G>A (p.Glu558Lys)
c.1777G>A (p.Glu593Lys)
c.1684G>A (p.Glu562Lys)
c.1783G>A (p.Glu595Lys)
c.1813G>A (p.Glu605Lys)
c.1804G>A (p.Glu602Lys)
c.1774G>A (p.Glu592Lys)
c.1717G>A (p.Glu573Lys)
c.1663G>A (p.Glu555Lys)
c.1456G>A (p.Glu486Lys)
c.1870G>A (p.Glu624Lys)
c.1864G>A (p.Glu622Lys)
c.1861G>A (p.Glu621Lys)
c.1921G>A (p.Glu641Lys)
c.1912G>A (p.Glu638Lys)
c.1831G>A (p.Glu611Lys)
c.1780G>A (p.Glu594Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800069G>CCA7150872NPAS3c.1762G>C (p.Glu588Gln)
c.1771G>C (p.Glu591Gln)
c.1662G>C
c.793+2488G>C
c.1666G>C (p.Glu556Gln)
c.1723G>C (p.Glu575Gln)
c.1672G>C (p.Glu558Gln)
c.1777G>C (p.Glu593Gln)
c.1684G>C (p.Glu562Gln)
c.1783G>C (p.Glu595Gln)
c.1813G>C (p.Glu605Gln)
c.1804G>C (p.Glu602Gln)
c.1774G>C (p.Glu592Gln)
c.1717G>C (p.Glu573Gln)
c.1663G>C (p.Glu555Gln)
c.1456G>C (p.Glu486Gln)
c.1870G>C (p.Glu624Gln)
c.1864G>C (p.Glu622Gln)
c.1861G>C (p.Glu621Gln)
c.1921G>C (p.Glu641Gln)
c.1912G>C (p.Glu638Gln)
c.1831G>C (p.Glu611Gln)
c.1780G>C (p.Glu594Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800069G=CA2128326806NPAS3c.1762G= (p.Glu588=)
c.1771G= (p.Glu591=)
c.1662G=
c.793+2488G=
c.1666G= (p.Glu556=)
c.1723G= (p.Glu575=)
c.1672G= (p.Glu558=)
c.1777G= (p.Glu593=)
c.1684G= (p.Glu562=)
c.1783G= (p.Glu595=)
c.1813G= (p.Glu605=)
c.1804G= (p.Glu602=)
c.1774G= (p.Glu592=)
c.1717G= (p.Glu573=)
c.1663G= (p.Glu555=)
c.1456G= (p.Glu486=)
c.1870G= (p.Glu624=)
c.1864G= (p.Glu622=)
c.1861G= (p.Glu621=)
c.1921G= (p.Glu641=)
c.1912G= (p.Glu638=)
c.1831G= (p.Glu611=)
c.1780G= (p.Glu594=)
14g.33800069G>TCA389412241NPAS3c.1762G>T (p.Glu588Ter)
c.1771G>T (p.Glu591Ter)
c.1662G>T
c.793+2488G>T
c.1666G>T (p.Glu556Ter)
c.1723G>T (p.Glu575Ter)
c.1672G>T (p.Glu558Ter)
c.1777G>T (p.Glu593Ter)
c.1684G>T (p.Glu562Ter)
c.1783G>T (p.Glu595Ter)
c.1813G>T (p.Glu605Ter)
c.1804G>T (p.Glu602Ter)
c.1774G>T (p.Glu592Ter)
c.1717G>T (p.Glu573Ter)
c.1663G>T (p.Glu555Ter)
c.1456G>T (p.Glu486Ter)
c.1870G>T (p.Glu624Ter)
c.1864G>T (p.Glu622Ter)
c.1861G>T (p.Glu621Ter)
c.1921G>T (p.Glu641Ter)
c.1912G>T (p.Glu638Ter)
c.1831G>T (p.Glu611Ter)
c.1780G>T (p.Glu594Ter)
14g.33800070A>CCA389412246NPAS3c.1763A>C (p.Glu588Ala)
c.1772A>C (p.Glu591Ala)
c.1663A>C
c.793+2489A>C
c.1667A>C (p.Glu556Ala)
c.1724A>C (p.Glu575Ala)
c.1673A>C (p.Glu558Ala)
c.1778A>C (p.Glu593Ala)
c.1685A>C (p.Glu562Ala)
c.1784A>C (p.Glu595Ala)
c.1814A>C (p.Glu605Ala)
c.1805A>C (p.Glu602Ala)
c.1775A>C (p.Glu592Ala)
c.1718A>C (p.Glu573Ala)
c.1664A>C (p.Glu555Ala)
c.1457A>C (p.Glu486Ala)
c.1871A>C (p.Glu624Ala)
c.1865A>C (p.Glu622Ala)
c.1862A>C (p.Glu621Ala)
c.1922A>C (p.Glu641Ala)
c.1913A>C (p.Glu638Ala)
c.1832A>C (p.Glu611Ala)
c.1781A>C (p.Glu594Ala)
14g.33800070A>GCA389412250NPAS3c.1763A>G (p.Glu588Gly)
c.1772A>G (p.Glu591Gly)
c.1663A>G
c.793+2489A>G
c.1667A>G (p.Glu556Gly)
c.1724A>G (p.Glu575Gly)
c.1673A>G (p.Glu558Gly)
c.1778A>G (p.Glu593Gly)
c.1685A>G (p.Glu562Gly)
c.1784A>G (p.Glu595Gly)
c.1814A>G (p.Glu605Gly)
c.1805A>G (p.Glu602Gly)
c.1775A>G (p.Glu592Gly)
c.1718A>G (p.Glu573Gly)
c.1664A>G (p.Glu555Gly)
c.1457A>G (p.Glu486Gly)
c.1871A>G (p.Glu624Gly)
c.1865A>G (p.Glu622Gly)
c.1862A>G (p.Glu621Gly)
c.1922A>G (p.Glu641Gly)
c.1913A>G (p.Glu638Gly)
c.1832A>G (p.Glu611Gly)
c.1781A>G (p.Glu594Gly)
14g.33800070A>TCA389412254NPAS3c.1763A>T (p.Glu588Val)
c.1772A>T (p.Glu591Val)
c.1663A>T
c.793+2489A>T
c.1667A>T (p.Glu556Val)
c.1724A>T (p.Glu575Val)
c.1673A>T (p.Glu558Val)
c.1778A>T (p.Glu593Val)
c.1685A>T (p.Glu562Val)
c.1784A>T (p.Glu595Val)
c.1814A>T (p.Glu605Val)
c.1805A>T (p.Glu602Val)
c.1775A>T (p.Glu592Val)
c.1718A>T (p.Glu573Val)
c.1664A>T (p.Glu555Val)
c.1457A>T (p.Glu486Val)
c.1871A>T (p.Glu624Val)
c.1865A>T (p.Glu622Val)
c.1862A>T (p.Glu621Val)
c.1922A>T (p.Glu641Val)
c.1913A>T (p.Glu638Val)
c.1832A>T (p.Glu611Val)
c.1781A>T (p.Glu594Val)
14g.33800071G>ACA486092970NPAS3c.1764G>A (p.Glu588=)
c.1773G>A (p.Glu591=)
c.1664G>A
c.793+2490G>A
c.1668G>A (p.Glu556=)
c.1725G>A (p.Glu575=)
c.1674G>A (p.Glu558=)
c.1779G>A (p.Glu593=)
c.1686G>A (p.Glu562=)
c.1785G>A (p.Glu595=)
c.1815G>A (p.Glu605=)
c.1806G>A (p.Glu602=)
c.1776G>A (p.Glu592=)
c.1719G>A (p.Glu573=)
c.1665G>A (p.Glu555=)
c.1458G>A (p.Glu486=)
c.1872G>A (p.Glu624=)
c.1866G>A (p.Glu622=)
c.1863G>A (p.Glu621=)
c.1923G>A (p.Glu641=)
c.1914G>A (p.Glu638=)
c.1833G>A (p.Glu611=)
c.1782G>A (p.Glu594=)
 dbSNP gnomAD v3 gnomAD v4
14g.33800071G>CCA389412258NPAS3c.1764G>C (p.Glu588Asp)
c.1773G>C (p.Glu591Asp)
c.1664G>C
c.793+2490G>C
c.1668G>C (p.Glu556Asp)
c.1725G>C (p.Glu575Asp)
c.1674G>C (p.Glu558Asp)
c.1779G>C (p.Glu593Asp)
c.1686G>C (p.Glu562Asp)
c.1785G>C (p.Glu595Asp)
c.1815G>C (p.Glu605Asp)
c.1806G>C (p.Glu602Asp)
c.1776G>C (p.Glu592Asp)
c.1719G>C (p.Glu573Asp)
c.1665G>C (p.Glu555Asp)
c.1458G>C (p.Glu486Asp)
c.1872G>C (p.Glu624Asp)
c.1866G>C (p.Glu622Asp)
c.1863G>C (p.Glu621Asp)
c.1923G>C (p.Glu641Asp)
c.1914G>C (p.Glu638Asp)
c.1833G>C (p.Glu611Asp)
c.1782G>C (p.Glu594Asp)
14g.33800071G=CA2128326811NPAS3c.1764G= (p.Glu588=)
c.1773G= (p.Glu591=)
c.1664G=
c.793+2490G=
c.1668G= (p.Glu556=)
c.1725G= (p.Glu575=)
c.1674G= (p.Glu558=)
c.1779G= (p.Glu593=)
c.1686G= (p.Glu562=)
c.1785G= (p.Glu595=)
c.1815G= (p.Glu605=)
c.1806G= (p.Glu602=)
c.1776G= (p.Glu592=)
c.1719G= (p.Glu573=)
c.1665G= (p.Glu555=)
c.1458G= (p.Glu486=)
c.1872G= (p.Glu624=)
c.1866G= (p.Glu622=)
c.1863G= (p.Glu621=)
c.1923G= (p.Glu641=)
c.1914G= (p.Glu638=)
c.1833G= (p.Glu611=)
c.1782G= (p.Glu594=)
14g.33800071G>TCA389412262NPAS3c.1764G>T (p.Glu588Asp)
c.1773G>T (p.Glu591Asp)
c.1664G>T
c.793+2490G>T
c.1668G>T (p.Glu556Asp)
c.1725G>T (p.Glu575Asp)
c.1674G>T (p.Glu558Asp)
c.1779G>T (p.Glu593Asp)
c.1686G>T (p.Glu562Asp)
c.1785G>T (p.Glu595Asp)
c.1815G>T (p.Glu605Asp)
c.1806G>T (p.Glu602Asp)
c.1776G>T (p.Glu592Asp)
c.1719G>T (p.Glu573Asp)
c.1665G>T (p.Glu555Asp)
c.1458G>T (p.Glu486Asp)
c.1872G>T (p.Glu624Asp)
c.1866G>T (p.Glu622Asp)
c.1863G>T (p.Glu621Asp)
c.1923G>T (p.Glu641Asp)
c.1914G>T (p.Glu638Asp)
c.1833G>T (p.Glu611Asp)
c.1782G>T (p.Glu594Asp)
14g.33800072G>ACA389412265NPAS3c.1765G>A (p.Ala589Thr)
c.1774G>A (p.Ala592Thr)
c.1665G>A
c.793+2491G>A
c.1669G>A (p.Ala557Thr)
c.1726G>A (p.Ala576Thr)
c.1675G>A (p.Ala559Thr)
c.1780G>A (p.Ala594Thr)
c.1687G>A (p.Ala563Thr)
c.1786G>A (p.Ala596Thr)
c.1816G>A (p.Ala606Thr)
c.1807G>A (p.Ala603Thr)
c.1777G>A (p.Ala593Thr)
c.1720G>A (p.Ala574Thr)
c.1666G>A (p.Ala556Thr)
c.1459G>A (p.Ala487Thr)
c.1873G>A (p.Ala625Thr)
c.1867G>A (p.Ala623Thr)
c.1864G>A (p.Ala622Thr)
c.1924G>A (p.Ala642Thr)
c.1915G>A (p.Ala639Thr)
c.1834G>A (p.Ala612Thr)
c.1783G>A (p.Ala595Thr)
14g.33800072G>CCA389412276NPAS3c.1765G>C (p.Ala589Pro)
c.1774G>C (p.Ala592Pro)
c.1665G>C
c.793+2491G>C
c.1669G>C (p.Ala557Pro)
c.1726G>C (p.Ala576Pro)
c.1675G>C (p.Ala559Pro)
c.1780G>C (p.Ala594Pro)
c.1687G>C (p.Ala563Pro)
c.1786G>C (p.Ala596Pro)
c.1816G>C (p.Ala606Pro)
c.1807G>C (p.Ala603Pro)
c.1777G>C (p.Ala593Pro)
c.1720G>C (p.Ala574Pro)
c.1666G>C (p.Ala556Pro)
c.1459G>C (p.Ala487Pro)
c.1873G>C (p.Ala625Pro)
c.1867G>C (p.Ala623Pro)
c.1864G>C (p.Ala622Pro)
c.1924G>C (p.Ala642Pro)
c.1915G>C (p.Ala639Pro)
c.1834G>C (p.Ala612Pro)
c.1783G>C (p.Ala595Pro)
14g.33800072G=CA2128326814NPAS3c.1765G= (p.Ala589=)
c.1774G= (p.Ala592=)
c.1665G=
c.793+2491G=
c.1669G= (p.Ala557=)
c.1726G= (p.Ala576=)
c.1675G= (p.Ala559=)
c.1780G= (p.Ala594=)
c.1687G= (p.Ala563=)
c.1786G= (p.Ala596=)
c.1816G= (p.Ala606=)
c.1807G= (p.Ala603=)
c.1777G= (p.Ala593=)
c.1720G= (p.Ala574=)
c.1666G= (p.Ala556=)
c.1459G= (p.Ala487=)
c.1873G= (p.Ala625=)
c.1867G= (p.Ala623=)
c.1864G= (p.Ala622=)
c.1924G= (p.Ala642=)
c.1915G= (p.Ala639=)
c.1834G= (p.Ala612=)
c.1783G= (p.Ala595=)
14g.33800072G>TCA7150873NPAS3c.1765G>T (p.Ala589Ser)
c.1774G>T (p.Ala592Ser)
c.1665G>T
c.793+2491G>T
c.1669G>T (p.Ala557Ser)
c.1726G>T (p.Ala576Ser)
c.1675G>T (p.Ala559Ser)
c.1780G>T (p.Ala594Ser)
c.1687G>T (p.Ala563Ser)
c.1786G>T (p.Ala596Ser)
c.1816G>T (p.Ala606Ser)
c.1807G>T (p.Ala603Ser)
c.1777G>T (p.Ala593Ser)
c.1720G>T (p.Ala574Ser)
c.1666G>T (p.Ala556Ser)
c.1459G>T (p.Ala487Ser)
c.1873G>T (p.Ala625Ser)
c.1867G>T (p.Ala623Ser)
c.1864G>T (p.Ala622Ser)
c.1924G>T (p.Ala642Ser)
c.1915G>T (p.Ala639Ser)
c.1834G>T (p.Ala612Ser)
c.1783G>T (p.Ala595Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800073C>ACA7150875NPAS3c.1766C>A (p.Ala589Glu)
c.1775C>A (p.Ala592Glu)
c.1666C>A
c.793+2492C>A
c.1670C>A (p.Ala557Glu)
c.1727C>A (p.Ala576Glu)
c.1676C>A (p.Ala559Glu)
c.1781C>A (p.Ala594Glu)
c.1688C>A (p.Ala563Glu)
c.1787C>A (p.Ala596Glu)
c.1817C>A (p.Ala606Glu)
c.1808C>A (p.Ala603Glu)
c.1778C>A (p.Ala593Glu)
c.1721C>A (p.Ala574Glu)
c.1667C>A (p.Ala556Glu)
c.1460C>A (p.Ala487Glu)
c.1874C>A (p.Ala625Glu)
c.1868C>A (p.Ala623Glu)
c.1865C>A (p.Ala622Glu)
c.1925C>A (p.Ala642Glu)
c.1916C>A (p.Ala639Glu)
c.1835C>A (p.Ala612Glu)
c.1784C>A (p.Ala595Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800073C=CA2128326820NPAS3c.1766C= (p.Ala589=)
c.1775C= (p.Ala592=)
c.1666C=
c.793+2492C=
c.1670C= (p.Ala557=)
c.1727C= (p.Ala576=)
c.1676C= (p.Ala559=)
c.1781C= (p.Ala594=)
c.1688C= (p.Ala563=)
c.1787C= (p.Ala596=)
c.1817C= (p.Ala606=)
c.1808C= (p.Ala603=)
c.1778C= (p.Ala593=)
c.1721C= (p.Ala574=)
c.1667C= (p.Ala556=)
c.1460C= (p.Ala487=)
c.1874C= (p.Ala625=)
c.1868C= (p.Ala623=)
c.1865C= (p.Ala622=)
c.1925C= (p.Ala642=)
c.1916C= (p.Ala639=)
c.1835C= (p.Ala612=)
c.1784C= (p.Ala595=)
14g.33800073C>GCA7150874NPAS3c.1766C>G (p.Ala589Gly)
c.1775C>G (p.Ala592Gly)
c.1666C>G
c.793+2492C>G
c.1670C>G (p.Ala557Gly)
c.1727C>G (p.Ala576Gly)
c.1676C>G (p.Ala559Gly)
c.1781C>G (p.Ala594Gly)
c.1688C>G (p.Ala563Gly)
c.1787C>G (p.Ala596Gly)
c.1817C>G (p.Ala606Gly)
c.1808C>G (p.Ala603Gly)
c.1778C>G (p.Ala593Gly)
c.1721C>G (p.Ala574Gly)
c.1667C>G (p.Ala556Gly)
c.1460C>G (p.Ala487Gly)
c.1874C>G (p.Ala625Gly)
c.1868C>G (p.Ala623Gly)
c.1865C>G (p.Ala622Gly)
c.1925C>G (p.Ala642Gly)
c.1916C>G (p.Ala639Gly)
c.1835C>G (p.Ala612Gly)
c.1784C>G (p.Ala595Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800073C>TCA389412284NPAS3c.1766C>T (p.Ala589Val)
c.1775C>T (p.Ala592Val)
c.1666C>T
c.793+2492C>T
c.1670C>T (p.Ala557Val)
c.1727C>T (p.Ala576Val)
c.1676C>T (p.Ala559Val)
c.1781C>T (p.Ala594Val)
c.1688C>T (p.Ala563Val)
c.1787C>T (p.Ala596Val)
c.1817C>T (p.Ala606Val)
c.1808C>T (p.Ala603Val)
c.1778C>T (p.Ala593Val)
c.1721C>T (p.Ala574Val)
c.1667C>T (p.Ala556Val)
c.1460C>T (p.Ala487Val)
c.1874C>T (p.Ala625Val)
c.1868C>T (p.Ala623Val)
c.1865C>T (p.Ala622Val)
c.1925C>T (p.Ala642Val)
c.1916C>T (p.Ala639Val)
c.1835C>T (p.Ala612Val)
c.1784C>T (p.Ala595Val)
 dbSNP gnomAD v2 gnomAD v4
14g.33800074G>ACA7150876NPAS3c.1767G>A (p.Ala589=)
c.1776G>A (p.Ala592=)
c.1667G>A
c.793+2493G>A
c.1671G>A (p.Ala557=)
c.1728G>A (p.Ala576=)
c.1677G>A (p.Ala559=)
c.1782G>A (p.Ala594=)
c.1689G>A (p.Ala563=)
c.1788G>A (p.Ala596=)
c.1818G>A (p.Ala606=)
c.1809G>A (p.Ala603=)
c.1779G>A (p.Ala593=)
c.1722G>A (p.Ala574=)
c.1668G>A (p.Ala556=)
c.1461G>A (p.Ala487=)
c.1875G>A (p.Ala625=)
c.1869G>A (p.Ala623=)
c.1866G>A (p.Ala622=)
c.1926G>A (p.Ala642=)
c.1917G>A (p.Ala639=)
c.1836G>A (p.Ala612=)
c.1785G>A (p.Ala595=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800074G>CCA486092972NPAS3c.1767G>C (p.Ala589=)
c.1776G>C (p.Ala592=)
c.1667G>C
c.793+2493G>C
c.1671G>C (p.Ala557=)
c.1728G>C (p.Ala576=)
c.1677G>C (p.Ala559=)
c.1782G>C (p.Ala594=)
c.1689G>C (p.Ala563=)
c.1788G>C (p.Ala596=)
c.1818G>C (p.Ala606=)
c.1809G>C (p.Ala603=)
c.1779G>C (p.Ala593=)
c.1722G>C (p.Ala574=)
c.1668G>C (p.Ala556=)
c.1461G>C (p.Ala487=)
c.1875G>C (p.Ala625=)
c.1869G>C (p.Ala623=)
c.1866G>C (p.Ala622=)
c.1926G>C (p.Ala642=)
c.1917G>C (p.Ala639=)
c.1836G>C (p.Ala612=)
c.1785G>C (p.Ala595=)
14g.33800074G=CA2128326824NPAS3c.1767G= (p.Ala589=)
c.1776G= (p.Ala592=)
c.1667G=
c.793+2493G=
c.1671G= (p.Ala557=)
c.1728G= (p.Ala576=)
c.1677G= (p.Ala559=)
c.1782G= (p.Ala594=)
c.1689G= (p.Ala563=)
c.1788G= (p.Ala596=)
c.1818G= (p.Ala606=)
c.1809G= (p.Ala603=)
c.1779G= (p.Ala593=)
c.1722G= (p.Ala574=)
c.1668G= (p.Ala556=)
c.1461G= (p.Ala487=)
c.1875G= (p.Ala625=)
c.1869G= (p.Ala623=)
c.1866G= (p.Ala622=)
c.1926G= (p.Ala642=)
c.1917G= (p.Ala639=)
c.1836G= (p.Ala612=)
c.1785G= (p.Ala595=)
14g.33800074G>TCA486092973NPAS3c.1767G>T (p.Ala589=)
c.1776G>T (p.Ala592=)
c.1667G>T
c.793+2493G>T
c.1671G>T (p.Ala557=)
c.1728G>T (p.Ala576=)
c.1677G>T (p.Ala559=)
c.1782G>T (p.Ala594=)
c.1689G>T (p.Ala563=)
c.1788G>T (p.Ala596=)
c.1818G>T (p.Ala606=)
c.1809G>T (p.Ala603=)
c.1779G>T (p.Ala593=)
c.1722G>T (p.Ala574=)
c.1668G>T (p.Ala556=)
c.1461G>T (p.Ala487=)
c.1875G>T (p.Ala625=)
c.1869G>T (p.Ala623=)
c.1866G>T (p.Ala622=)
c.1926G>T (p.Ala642=)
c.1917G>T (p.Ala639=)
c.1836G>T (p.Ala612=)
c.1785G>T (p.Ala595=)
 gnomAD v4
14g.33800075G>ACA389412293NPAS3c.1768G>A (p.Gly590Ser)
c.1777G>A (p.Gly593Ser)
c.1668G>A
c.793+2494G>A
c.1672G>A (p.Gly558Ser)
c.1729G>A (p.Gly577Ser)
c.1678G>A (p.Gly560Ser)
c.1783G>A (p.Gly595Ser)
c.1690G>A (p.Gly564Ser)
c.1789G>A (p.Gly597Ser)
c.1819G>A (p.Gly607Ser)
c.1810G>A (p.Gly604Ser)
c.1780G>A (p.Gly594Ser)
c.1723G>A (p.Gly575Ser)
c.1669G>A (p.Gly557Ser)
c.1462G>A (p.Gly488Ser)
c.1876G>A (p.Gly626Ser)
c.1870G>A (p.Gly624Ser)
c.1867G>A (p.Gly623Ser)
c.1927G>A (p.Gly643Ser)
c.1918G>A (p.Gly640Ser)
c.1837G>A (p.Gly613Ser)
c.1786G>A (p.Gly596Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.33800075G>CCA389412290NPAS3c.1768G>C (p.Gly590Arg)
c.1777G>C (p.Gly593Arg)
c.1668G>C
c.793+2494G>C
c.1672G>C (p.Gly558Arg)
c.1729G>C (p.Gly577Arg)
c.1678G>C (p.Gly560Arg)
c.1783G>C (p.Gly595Arg)
c.1690G>C (p.Gly564Arg)
c.1789G>C (p.Gly597Arg)
c.1819G>C (p.Gly607Arg)
c.1810G>C (p.Gly604Arg)
c.1780G>C (p.Gly594Arg)
c.1723G>C (p.Gly575Arg)
c.1669G>C (p.Gly557Arg)
c.1462G>C (p.Gly488Arg)
c.1876G>C (p.Gly626Arg)
c.1870G>C (p.Gly624Arg)
c.1867G>C (p.Gly623Arg)
c.1927G>C (p.Gly643Arg)
c.1918G>C (p.Gly640Arg)
c.1837G>C (p.Gly613Arg)
c.1786G>C (p.Gly596Arg)
 dbSNP gnomAD v3 gnomAD v4
14g.33800075G=CA2128326827NPAS3c.1768G= (p.Gly590=)
c.1777G= (p.Gly593=)
c.1668G=
c.793+2494G=
c.1672G= (p.Gly558=)
c.1729G= (p.Gly577=)
c.1678G= (p.Gly560=)
c.1783G= (p.Gly595=)
c.1690G= (p.Gly564=)
c.1789G= (p.Gly597=)
c.1819G= (p.Gly607=)
c.1810G= (p.Gly604=)
c.1780G= (p.Gly594=)
c.1723G= (p.Gly575=)
c.1669G= (p.Gly557=)
c.1462G= (p.Gly488=)
c.1876G= (p.Gly626=)
c.1870G= (p.Gly624=)
c.1867G= (p.Gly623=)
c.1927G= (p.Gly643=)
c.1918G= (p.Gly640=)
c.1837G= (p.Gly613=)
c.1786G= (p.Gly596=)
14g.33800075G>TCA389412292NPAS3c.1768G>T (p.Gly590Cys)
c.1777G>T (p.Gly593Cys)
c.1668G>T
c.793+2494G>T
c.1672G>T (p.Gly558Cys)
c.1729G>T (p.Gly577Cys)
c.1678G>T (p.Gly560Cys)
c.1783G>T (p.Gly595Cys)
c.1690G>T (p.Gly564Cys)
c.1789G>T (p.Gly597Cys)
c.1819G>T (p.Gly607Cys)
c.1810G>T (p.Gly604Cys)
c.1780G>T (p.Gly594Cys)
c.1723G>T (p.Gly575Cys)
c.1669G>T (p.Gly557Cys)
c.1462G>T (p.Gly488Cys)
c.1876G>T (p.Gly626Cys)
c.1870G>T (p.Gly624Cys)
c.1867G>T (p.Gly623Cys)
c.1927G>T (p.Gly643Cys)
c.1918G>T (p.Gly640Cys)
c.1837G>T (p.Gly613Cys)
c.1786G>T (p.Gly596Cys)
 gnomAD v4
14g.33800076G>ACA389412297NPAS3c.1769G>A (p.Gly590Asp)
c.1778G>A (p.Gly593Asp)
c.1669G>A
c.793+2495G>A
c.1673G>A (p.Gly558Asp)
c.1730G>A (p.Gly577Asp)
c.1679G>A (p.Gly560Asp)
c.1784G>A (p.Gly595Asp)
c.1691G>A (p.Gly564Asp)
c.1790G>A (p.Gly597Asp)
c.1820G>A (p.Gly607Asp)
c.1811G>A (p.Gly604Asp)
c.1781G>A (p.Gly594Asp)
c.1724G>A (p.Gly575Asp)
c.1670G>A (p.Gly557Asp)
c.1463G>A (p.Gly488Asp)
c.1877G>A (p.Gly626Asp)
c.1871G>A (p.Gly624Asp)
c.1868G>A (p.Gly623Asp)
c.1928G>A (p.Gly643Asp)
c.1919G>A (p.Gly640Asp)
c.1838G>A (p.Gly613Asp)
c.1787G>A (p.Gly596Asp)
 dbSNP gnomAD v2 gnomAD v4
14g.33800076G>CCA389412299NPAS3c.1769G>C (p.Gly590Ala)
c.1778G>C (p.Gly593Ala)
c.1669G>C
c.793+2495G>C
c.1673G>C (p.Gly558Ala)
c.1730G>C (p.Gly577Ala)
c.1679G>C (p.Gly560Ala)
c.1784G>C (p.Gly595Ala)
c.1691G>C (p.Gly564Ala)
c.1790G>C (p.Gly597Ala)
c.1820G>C (p.Gly607Ala)
c.1811G>C (p.Gly604Ala)
c.1781G>C (p.Gly594Ala)
c.1724G>C (p.Gly575Ala)
c.1670G>C (p.Gly557Ala)
c.1463G>C (p.Gly488Ala)
c.1877G>C (p.Gly626Ala)
c.1871G>C (p.Gly624Ala)
c.1868G>C (p.Gly623Ala)
c.1928G>C (p.Gly643Ala)
c.1919G>C (p.Gly640Ala)
c.1838G>C (p.Gly613Ala)
c.1787G>C (p.Gly596Ala)
14g.33800076G=CA2128326831NPAS3c.1769G= (p.Gly590=)
c.1778G= (p.Gly593=)
c.1669G=
c.793+2495G=
c.1673G= (p.Gly558=)
c.1730G= (p.Gly577=)
c.1679G= (p.Gly560=)
c.1784G= (p.Gly595=)
c.1691G= (p.Gly564=)
c.1790G= (p.Gly597=)
c.1820G= (p.Gly607=)
c.1811G= (p.Gly604=)
c.1781G= (p.Gly594=)
c.1724G= (p.Gly575=)
c.1670G= (p.Gly557=)
c.1463G= (p.Gly488=)
c.1877G= (p.Gly626=)
c.1871G= (p.Gly624=)
c.1868G= (p.Gly623=)
c.1928G= (p.Gly643=)
c.1919G= (p.Gly640=)
c.1838G= (p.Gly613=)
c.1787G= (p.Gly596=)
14g.33800076G>TCA389412302NPAS3c.1769G>T (p.Gly590Val)
c.1778G>T (p.Gly593Val)
c.1669G>T
c.793+2495G>T
c.1673G>T (p.Gly558Val)
c.1730G>T (p.Gly577Val)
c.1679G>T (p.Gly560Val)
c.1784G>T (p.Gly595Val)
c.1691G>T (p.Gly564Val)
c.1790G>T (p.Gly597Val)
c.1820G>T (p.Gly607Val)
c.1811G>T (p.Gly604Val)
c.1781G>T (p.Gly594Val)
c.1724G>T (p.Gly575Val)
c.1670G>T (p.Gly557Val)
c.1463G>T (p.Gly488Val)
c.1877G>T (p.Gly626Val)
c.1871G>T (p.Gly624Val)
c.1868G>T (p.Gly623Val)
c.1928G>T (p.Gly643Val)
c.1919G>T (p.Gly640Val)
c.1838G>T (p.Gly613Val)
c.1787G>T (p.Gly596Val)
 gnomAD v4
14g.33800080_33800081delCA2624512026NPAS3c.1773_1774del (p.Gln592GlyfsTer?)
c.1782_1783del (p.Gln595GlyfsTer?)
c.1673_1674del
c.793+2499_793+2500del
c.1677_1678del (p.Gln560GlyfsTer?)
c.1734_1735del (p.Gln579GlyfsTer?)
c.1683_1684del (p.Gln562GlyfsTer?)
c.1788_1789del (p.Gln597GlyfsTer?)
c.1695_1696del (p.Gln566GlyfsTer?)
c.1794_1795del (p.Gln599GlyfsTer?)
c.1824_1825del (p.Gln609GlyfsTer?)
c.1815_1816del (p.Gln606GlyfsTer?)
c.1785_1786del (p.Gln596GlyfsTer?)
c.1728_1729del (p.Gln577GlyfsTer?)
c.1674_1675del (p.Gln559GlyfsTer?)
c.1467_1468del (p.Gln490GlyfsTer?)
c.1881_1882del (p.Gln628GlyfsTer?)
c.1875_1876del (p.Gln626GlyfsTer?)
c.1872_1873del (p.Gln625GlyfsTer?)
c.1932_1933del (p.Gln645GlyfsTer?)
c.1923_1924del (p.Gln642GlyfsTer?)
c.1842_1843del (p.Gln615GlyfsTer?)
c.1791_1792del (p.Gln598GlyfsTer?)
 gnomAD v4
14g.33800077C>ACA486092976NPAS3c.1770C>A (p.Gly590=)
c.1779C>A (p.Gly593=)
c.1670C>A
c.793+2496C>A
c.1674C>A (p.Gly558=)
c.1731C>A (p.Gly577=)
c.1680C>A (p.Gly560=)
c.1785C>A (p.Gly595=)
c.1692C>A (p.Gly564=)
c.1791C>A (p.Gly597=)
c.1821C>A (p.Gly607=)
c.1812C>A (p.Gly604=)
c.1782C>A (p.Gly594=)
c.1725C>A (p.Gly575=)
c.1671C>A (p.Gly557=)
c.1464C>A (p.Gly488=)
c.1878C>A (p.Gly626=)
c.1872C>A (p.Gly624=)
c.1869C>A (p.Gly623=)
c.1929C>A (p.Gly643=)
c.1920C>A (p.Gly640=)
c.1839C>A (p.Gly613=)
c.1788C>A (p.Gly596=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800077C=CA2128326835NPAS3c.1770C= (p.Gly590=)
c.1779C= (p.Gly593=)
c.1670C=
c.793+2496C=
c.1674C= (p.Gly558=)
c.1731C= (p.Gly577=)
c.1680C= (p.Gly560=)
c.1785C= (p.Gly595=)
c.1692C= (p.Gly564=)
c.1791C= (p.Gly597=)
c.1821C= (p.Gly607=)
c.1812C= (p.Gly604=)
c.1782C= (p.Gly594=)
c.1725C= (p.Gly575=)
c.1671C= (p.Gly557=)
c.1464C= (p.Gly488=)
c.1878C= (p.Gly626=)
c.1872C= (p.Gly624=)
c.1869C= (p.Gly623=)
c.1929C= (p.Gly643=)
c.1920C= (p.Gly640=)
c.1839C= (p.Gly613=)
c.1788C= (p.Gly596=)
14g.33800077C>GCA486092977NPAS3c.1770C>G (p.Gly590=)
c.1779C>G (p.Gly593=)
c.1670C>G
c.793+2496C>G
c.1674C>G (p.Gly558=)
c.1731C>G (p.Gly577=)
c.1680C>G (p.Gly560=)
c.1785C>G (p.Gly595=)
c.1692C>G (p.Gly564=)
c.1791C>G (p.Gly597=)
c.1821C>G (p.Gly607=)
c.1812C>G (p.Gly604=)
c.1782C>G (p.Gly594=)
c.1725C>G (p.Gly575=)
c.1671C>G (p.Gly557=)
c.1464C>G (p.Gly488=)
c.1878C>G (p.Gly626=)
c.1872C>G (p.Gly624=)
c.1869C>G (p.Gly623=)
c.1929C>G (p.Gly643=)
c.1920C>G (p.Gly640=)
c.1839C>G (p.Gly613=)
c.1788C>G (p.Gly596=)
 gnomAD v4
14g.33800077C>TCA258718617NPAS3c.1770C>T (p.Gly590=)
c.1779C>T (p.Gly593=)
c.1670C>T
c.793+2496C>T
c.1674C>T (p.Gly558=)
c.1731C>T (p.Gly577=)
c.1680C>T (p.Gly560=)
c.1785C>T (p.Gly595=)
c.1692C>T (p.Gly564=)
c.1791C>T (p.Gly597=)
c.1821C>T (p.Gly607=)
c.1812C>T (p.Gly604=)
c.1782C>T (p.Gly594=)
c.1725C>T (p.Gly575=)
c.1671C>T (p.Gly557=)
c.1464C>T (p.Gly488=)
c.1878C>T (p.Gly626=)
c.1872C>T (p.Gly624=)
c.1869C>T (p.Gly623=)
c.1929C>T (p.Gly643=)
c.1920C>T (p.Gly640=)
c.1839C>T (p.Gly613=)
c.1788C>T (p.Gly596=)
 dbSNP gnomAD v4
14g.33800078G>ACA258718621NPAS3c.1771G>A (p.Ala591Thr)
c.1780G>A (p.Ala594Thr)
c.1671G>A
c.793+2497G>A
c.1675G>A (p.Ala559Thr)
c.1732G>A (p.Ala578Thr)
c.1681G>A (p.Ala561Thr)
c.1786G>A (p.Ala596Thr)
c.1693G>A (p.Ala565Thr)
c.1792G>A (p.Ala598Thr)
c.1822G>A (p.Ala608Thr)
c.1813G>A (p.Ala605Thr)
c.1783G>A (p.Ala595Thr)
c.1726G>A (p.Ala576Thr)
c.1672G>A (p.Ala558Thr)
c.1465G>A (p.Ala489Thr)
c.1879G>A (p.Ala627Thr)
c.1873G>A (p.Ala625Thr)
c.1870G>A (p.Ala624Thr)
c.1930G>A (p.Ala644Thr)
c.1921G>A (p.Ala641Thr)
c.1840G>A (p.Ala614Thr)
c.1789G>A (p.Ala597Thr)
 dbSNP gnomAD v3 gnomAD v4
14g.33800078G>CCA389412308NPAS3c.1771G>C (p.Ala591Pro)
c.1780G>C (p.Ala594Pro)
c.1671G>C
c.793+2497G>C
c.1675G>C (p.Ala559Pro)
c.1732G>C (p.Ala578Pro)
c.1681G>C (p.Ala561Pro)
c.1786G>C (p.Ala596Pro)
c.1693G>C (p.Ala565Pro)
c.1792G>C (p.Ala598Pro)
c.1822G>C (p.Ala608Pro)
c.1813G>C (p.Ala605Pro)
c.1783G>C (p.Ala595Pro)
c.1726G>C (p.Ala576Pro)
c.1672G>C (p.Ala558Pro)
c.1465G>C (p.Ala489Pro)
c.1879G>C (p.Ala627Pro)
c.1873G>C (p.Ala625Pro)
c.1870G>C (p.Ala624Pro)
c.1930G>C (p.Ala644Pro)
c.1921G>C (p.Ala641Pro)
c.1840G>C (p.Ala614Pro)
c.1789G>C (p.Ala597Pro)
 gnomAD v4
14g.33800078G=CA2128326838NPAS3c.1771G= (p.Ala591=)
c.1780G= (p.Ala594=)
c.1671G=
c.793+2497G=
c.1675G= (p.Ala559=)
c.1732G= (p.Ala578=)
c.1681G= (p.Ala561=)
c.1786G= (p.Ala596=)
c.1693G= (p.Ala565=)
c.1792G= (p.Ala598=)
c.1822G= (p.Ala608=)
c.1813G= (p.Ala605=)
c.1783G= (p.Ala595=)
c.1726G= (p.Ala576=)
c.1672G= (p.Ala558=)
c.1465G= (p.Ala489=)
c.1879G= (p.Ala627=)
c.1873G= (p.Ala625=)
c.1870G= (p.Ala624=)
c.1930G= (p.Ala644=)
c.1921G= (p.Ala641=)
c.1840G= (p.Ala614=)
c.1789G= (p.Ala597=)
14g.33800078G>TCA389412312NPAS3c.1771G>T (p.Ala591Ser)
c.1780G>T (p.Ala594Ser)
c.1671G>T
c.793+2497G>T
c.1675G>T (p.Ala559Ser)
c.1732G>T (p.Ala578Ser)
c.1681G>T (p.Ala561Ser)
c.1786G>T (p.Ala596Ser)
c.1693G>T (p.Ala565Ser)
c.1792G>T (p.Ala598Ser)
c.1822G>T (p.Ala608Ser)
c.1813G>T (p.Ala605Ser)
c.1783G>T (p.Ala595Ser)
c.1726G>T (p.Ala576Ser)
c.1672G>T (p.Ala558Ser)
c.1465G>T (p.Ala489Ser)
c.1879G>T (p.Ala627Ser)
c.1873G>T (p.Ala625Ser)
c.1870G>T (p.Ala624Ser)
c.1930G>T (p.Ala644Ser)
c.1921G>T (p.Ala641Ser)
c.1840G>T (p.Ala614Ser)
c.1789G>T (p.Ala597Ser)
 gnomAD v4
14g.33800079C>ACA389412316NPAS3c.1772C>A (p.Ala591Glu)
c.1781C>A (p.Ala594Glu)
c.1672C>A
c.793+2498C>A
c.1676C>A (p.Ala559Glu)
c.1733C>A (p.Ala578Glu)
c.1682C>A (p.Ala561Glu)
c.1787C>A (p.Ala596Glu)
c.1694C>A (p.Ala565Glu)
c.1793C>A (p.Ala598Glu)
c.1823C>A (p.Ala608Glu)
c.1814C>A (p.Ala605Glu)
c.1784C>A (p.Ala595Glu)
c.1727C>A (p.Ala576Glu)
c.1673C>A (p.Ala558Glu)
c.1466C>A (p.Ala489Glu)
c.1880C>A (p.Ala627Glu)
c.1874C>A (p.Ala625Glu)
c.1871C>A (p.Ala624Glu)
c.1931C>A (p.Ala644Glu)
c.1922C>A (p.Ala641Glu)
c.1841C>A (p.Ala614Glu)
c.1790C>A (p.Ala597Glu)
14g.33800079C=CA2128326842NPAS3c.1772C= (p.Ala591=)
c.1781C= (p.Ala594=)
c.1672C=
c.793+2498C=
c.1676C= (p.Ala559=)
c.1733C= (p.Ala578=)
c.1682C= (p.Ala561=)
c.1787C= (p.Ala596=)
c.1694C= (p.Ala565=)
c.1793C= (p.Ala598=)
c.1823C= (p.Ala608=)
c.1814C= (p.Ala605=)
c.1784C= (p.Ala595=)
c.1727C= (p.Ala576=)
c.1673C= (p.Ala558=)
c.1466C= (p.Ala489=)
c.1880C= (p.Ala627=)
c.1874C= (p.Ala625=)
c.1871C= (p.Ala624=)
c.1931C= (p.Ala644=)
c.1922C= (p.Ala641=)
c.1841C= (p.Ala614=)
c.1790C= (p.Ala597=)
14g.33800079C>GCA389412319NPAS3c.1772C>G (p.Ala591Gly)
c.1781C>G (p.Ala594Gly)
c.1672C>G
c.793+2498C>G
c.1676C>G (p.Ala559Gly)
c.1733C>G (p.Ala578Gly)
c.1682C>G (p.Ala561Gly)
c.1787C>G (p.Ala596Gly)
c.1694C>G (p.Ala565Gly)
c.1793C>G (p.Ala598Gly)
c.1823C>G (p.Ala608Gly)
c.1814C>G (p.Ala605Gly)
c.1784C>G (p.Ala595Gly)
c.1727C>G (p.Ala576Gly)
c.1673C>G (p.Ala558Gly)
c.1466C>G (p.Ala489Gly)
c.1880C>G (p.Ala627Gly)
c.1874C>G (p.Ala625Gly)
c.1871C>G (p.Ala624Gly)
c.1931C>G (p.Ala644Gly)
c.1922C>G (p.Ala641Gly)
c.1841C>G (p.Ala614Gly)
c.1790C>G (p.Ala597Gly)
14g.33800079C>TCA7150877NPAS3c.1772C>T (p.Ala591Val)
c.1781C>T (p.Ala594Val)
c.1672C>T
c.793+2498C>T
c.1676C>T (p.Ala559Val)
c.1733C>T (p.Ala578Val)
c.1682C>T (p.Ala561Val)
c.1787C>T (p.Ala596Val)
c.1694C>T (p.Ala565Val)
c.1793C>T (p.Ala598Val)
c.1823C>T (p.Ala608Val)
c.1814C>T (p.Ala605Val)
c.1784C>T (p.Ala595Val)
c.1727C>T (p.Ala576Val)
c.1673C>T (p.Ala558Val)
c.1466C>T (p.Ala489Val)
c.1880C>T (p.Ala627Val)
c.1874C>T (p.Ala625Val)
c.1871C>T (p.Ala624Val)
c.1931C>T (p.Ala644Val)
c.1922C>T (p.Ala641Val)
c.1841C>T (p.Ala614Val)
c.1790C>T (p.Ala597Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800080G>ACA486092982NPAS3c.1773G>A (p.Ala591=)
c.1782G>A (p.Ala594=)
c.1673G>A
c.793+2499G>A
c.1677G>A (p.Ala559=)
c.1734G>A (p.Ala578=)
c.1683G>A (p.Ala561=)
c.1788G>A (p.Ala596=)
c.1695G>A (p.Ala565=)
c.1794G>A (p.Ala598=)
c.1824G>A (p.Ala608=)
c.1815G>A (p.Ala605=)
c.1785G>A (p.Ala595=)
c.1728G>A (p.Ala576=)
c.1674G>A (p.Ala558=)
c.1467G>A (p.Ala489=)
c.1881G>A (p.Ala627=)
c.1875G>A (p.Ala625=)
c.1872G>A (p.Ala624=)
c.1932G>A (p.Ala644=)
c.1923G>A (p.Ala641=)
c.1842G>A (p.Ala614=)
c.1791G>A (p.Ala597=)
 dbSNP gnomAD v4
14g.33800080G>CCA486092979NPAS3c.1773G>C (p.Ala591=)
c.1782G>C (p.Ala594=)
c.1673G>C
c.793+2499G>C
c.1677G>C (p.Ala559=)
c.1734G>C (p.Ala578=)
c.1683G>C (p.Ala561=)
c.1788G>C (p.Ala596=)
c.1695G>C (p.Ala565=)
c.1794G>C (p.Ala598=)
c.1824G>C (p.Ala608=)
c.1815G>C (p.Ala605=)
c.1785G>C (p.Ala595=)
c.1728G>C (p.Ala576=)
c.1674G>C (p.Ala558=)
c.1467G>C (p.Ala489=)
c.1881G>C (p.Ala627=)
c.1875G>C (p.Ala625=)
c.1872G>C (p.Ala624=)
c.1932G>C (p.Ala644=)
c.1923G>C (p.Ala641=)
c.1842G>C (p.Ala614=)
c.1791G>C (p.Ala597=)
14g.33800080G=CA2128326844NPAS3c.1773G= (p.Ala591=)
c.1782G= (p.Ala594=)
c.1673G=
c.793+2499G=
c.1677G= (p.Ala559=)
c.1734G= (p.Ala578=)
c.1683G= (p.Ala561=)
c.1788G= (p.Ala596=)
c.1695G= (p.Ala565=)
c.1794G= (p.Ala598=)
c.1824G= (p.Ala608=)
c.1815G= (p.Ala605=)
c.1785G= (p.Ala595=)
c.1728G= (p.Ala576=)
c.1674G= (p.Ala558=)
c.1467G= (p.Ala489=)
c.1881G= (p.Ala627=)
c.1875G= (p.Ala625=)
c.1872G= (p.Ala624=)
c.1932G= (p.Ala644=)
c.1923G= (p.Ala641=)
c.1842G= (p.Ala614=)
c.1791G= (p.Ala597=)
14g.33800080G>TCA486092980NPAS3c.1773G>T (p.Ala591=)
c.1782G>T (p.Ala594=)
c.1673G>T
c.793+2499G>T
c.1677G>T (p.Ala559=)
c.1734G>T (p.Ala578=)
c.1683G>T (p.Ala561=)
c.1788G>T (p.Ala596=)
c.1695G>T (p.Ala565=)
c.1794G>T (p.Ala598=)
c.1824G>T (p.Ala608=)
c.1815G>T (p.Ala605=)
c.1785G>T (p.Ala595=)
c.1728G>T (p.Ala576=)
c.1674G>T (p.Ala558=)
c.1467G>T (p.Ala489=)
c.1881G>T (p.Ala627=)
c.1875G>T (p.Ala625=)
c.1872G>T (p.Ala624=)
c.1932G>T (p.Ala644=)
c.1923G>T (p.Ala641=)
c.1842G>T (p.Ala614=)
c.1791G>T (p.Ala597=)
 gnomAD v4
14g.33800081C>ACA389412323NPAS3c.1774C>A (p.Gln592Lys)
c.1783C>A (p.Gln595Lys)
c.1674C>A
c.793+2500C>A
c.1678C>A (p.Gln560Lys)
c.1735C>A (p.Gln579Lys)
c.1684C>A (p.Gln562Lys)
c.1789C>A (p.Gln597Lys)
c.1696C>A (p.Gln566Lys)
c.1795C>A (p.Gln599Lys)
c.1825C>A (p.Gln609Lys)
c.1816C>A (p.Gln606Lys)
c.1786C>A (p.Gln596Lys)
c.1729C>A (p.Gln577Lys)
c.1675C>A (p.Gln559Lys)
c.1468C>A (p.Gln490Lys)
c.1882C>A (p.Gln628Lys)
c.1876C>A (p.Gln626Lys)
c.1873C>A (p.Gln625Lys)
c.1933C>A (p.Gln645Lys)
c.1924C>A (p.Gln642Lys)
c.1843C>A (p.Gln615Lys)
c.1792C>A (p.Gln598Lys)
 gnomAD v4
14g.33800081C>GCA389412325NPAS3c.1774C>G (p.Gln592Glu)
c.1783C>G (p.Gln595Glu)
c.1674C>G
c.793+2500C>G
c.1678C>G (p.Gln560Glu)
c.1735C>G (p.Gln579Glu)
c.1684C>G (p.Gln562Glu)
c.1789C>G (p.Gln597Glu)
c.1696C>G (p.Gln566Glu)
c.1795C>G (p.Gln599Glu)
c.1825C>G (p.Gln609Glu)
c.1816C>G (p.Gln606Glu)
c.1786C>G (p.Gln596Glu)
c.1729C>G (p.Gln577Glu)
c.1675C>G (p.Gln559Glu)
c.1468C>G (p.Gln490Glu)
c.1882C>G (p.Gln628Glu)
c.1876C>G (p.Gln626Glu)
c.1873C>G (p.Gln625Glu)
c.1933C>G (p.Gln645Glu)
c.1924C>G (p.Gln642Glu)
c.1843C>G (p.Gln615Glu)
c.1792C>G (p.Gln598Glu)
14g.33800081C>TCA389412328NPAS3c.1774C>T (p.Gln592Ter)
c.1783C>T (p.Gln595Ter)
c.1674C>T
c.793+2500C>T
c.1678C>T (p.Gln560Ter)
c.1735C>T (p.Gln579Ter)
c.1684C>T (p.Gln562Ter)
c.1789C>T (p.Gln597Ter)
c.1696C>T (p.Gln566Ter)
c.1795C>T (p.Gln599Ter)
c.1825C>T (p.Gln609Ter)
c.1816C>T (p.Gln606Ter)
c.1786C>T (p.Gln596Ter)
c.1729C>T (p.Gln577Ter)
c.1675C>T (p.Gln559Ter)
c.1468C>T (p.Gln490Ter)
c.1882C>T (p.Gln628Ter)
c.1876C>T (p.Gln626Ter)
c.1873C>T (p.Gln625Ter)
c.1933C>T (p.Gln645Ter)
c.1924C>T (p.Gln642Ter)
c.1843C>T (p.Gln615Ter)
c.1792C>T (p.Gln598Ter)
14g.33800082A>CCA389412331NPAS3c.1775A>C (p.Gln592Pro)
c.1784A>C (p.Gln595Pro)
c.1675A>C
c.793+2501A>C
c.1679A>C (p.Gln560Pro)
c.1736A>C (p.Gln579Pro)
c.1685A>C (p.Gln562Pro)
c.1790A>C (p.Gln597Pro)
c.1697A>C (p.Gln566Pro)
c.1796A>C (p.Gln599Pro)
c.1826A>C (p.Gln609Pro)
c.1817A>C (p.Gln606Pro)
c.1787A>C (p.Gln596Pro)
c.1730A>C (p.Gln577Pro)
c.1676A>C (p.Gln559Pro)
c.1469A>C (p.Gln490Pro)
c.1883A>C (p.Gln628Pro)
c.1877A>C (p.Gln626Pro)
c.1874A>C (p.Gln625Pro)
c.1934A>C (p.Gln645Pro)
c.1925A>C (p.Gln642Pro)
c.1844A>C (p.Gln615Pro)
c.1793A>C (p.Gln598Pro)
14g.33800082A>GCA389412333NPAS3c.1775A>G (p.Gln592Arg)
c.1784A>G (p.Gln595Arg)
c.1675A>G
c.793+2501A>G
c.1679A>G (p.Gln560Arg)
c.1736A>G (p.Gln579Arg)
c.1685A>G (p.Gln562Arg)
c.1790A>G (p.Gln597Arg)
c.1697A>G (p.Gln566Arg)
c.1796A>G (p.Gln599Arg)
c.1826A>G (p.Gln609Arg)
c.1817A>G (p.Gln606Arg)
c.1787A>G (p.Gln596Arg)
c.1730A>G (p.Gln577Arg)
c.1676A>G (p.Gln559Arg)
c.1469A>G (p.Gln490Arg)
c.1883A>G (p.Gln628Arg)
c.1877A>G (p.Gln626Arg)
c.1874A>G (p.Gln625Arg)
c.1934A>G (p.Gln645Arg)
c.1925A>G (p.Gln642Arg)
c.1844A>G (p.Gln615Arg)
c.1793A>G (p.Gln598Arg)
14g.33800082A>TCA389412332NPAS3c.1775A>T (p.Gln592Leu)
c.1784A>T (p.Gln595Leu)
c.1675A>T
c.793+2501A>T
c.1679A>T (p.Gln560Leu)
c.1736A>T (p.Gln579Leu)
c.1685A>T (p.Gln562Leu)
c.1790A>T (p.Gln597Leu)
c.1697A>T (p.Gln566Leu)
c.1796A>T (p.Gln599Leu)
c.1826A>T (p.Gln609Leu)
c.1817A>T (p.Gln606Leu)
c.1787A>T (p.Gln596Leu)
c.1730A>T (p.Gln577Leu)
c.1676A>T (p.Gln559Leu)
c.1469A>T (p.Gln490Leu)
c.1883A>T (p.Gln628Leu)
c.1877A>T (p.Gln626Leu)
c.1874A>T (p.Gln625Leu)
c.1934A>T (p.Gln645Leu)
c.1925A>T (p.Gln642Leu)
c.1844A>T (p.Gln615Leu)
c.1793A>T (p.Gln598Leu)
 gnomAD v4
14g.33800083G>ACA486092984NPAS3c.1776G>A (p.Gln592=)
c.1785G>A (p.Gln595=)
c.1676G>A
c.793+2502G>A
c.1680G>A (p.Gln560=)
c.1737G>A (p.Gln579=)
c.1686G>A (p.Gln562=)
c.1791G>A (p.Gln597=)
c.1698G>A (p.Gln566=)
c.1797G>A (p.Gln599=)
c.1827G>A (p.Gln609=)
c.1818G>A (p.Gln606=)
c.1788G>A (p.Gln596=)
c.1731G>A (p.Gln577=)
c.1677G>A (p.Gln559=)
c.1470G>A (p.Gln490=)
c.1884G>A (p.Gln628=)
c.1878G>A (p.Gln626=)
c.1875G>A (p.Gln625=)
c.1935G>A (p.Gln645=)
c.1926G>A (p.Gln642=)
c.1845G>A (p.Gln615=)
c.1794G>A (p.Gln598=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800083G>CCA389412334NPAS3c.1776G>C (p.Gln592His)
c.1785G>C (p.Gln595His)
c.1676G>C
c.793+2502G>C
c.1680G>C (p.Gln560His)
c.1737G>C (p.Gln579His)
c.1686G>C (p.Gln562His)
c.1791G>C (p.Gln597His)
c.1698G>C (p.Gln566His)
c.1797G>C (p.Gln599His)
c.1827G>C (p.Gln609His)
c.1818G>C (p.Gln606His)
c.1788G>C (p.Gln596His)
c.1731G>C (p.Gln577His)
c.1677G>C (p.Gln559His)
c.1470G>C (p.Gln490His)
c.1884G>C (p.Gln628His)
c.1878G>C (p.Gln626His)
c.1875G>C (p.Gln625His)
c.1935G>C (p.Gln645His)
c.1926G>C (p.Gln642His)
c.1845G>C (p.Gln615His)
c.1794G>C (p.Gln598His)
14g.33800083G=CA2128326847NPAS3c.1776G= (p.Gln592=)
c.1785G= (p.Gln595=)
c.1676G=
c.793+2502G=
c.1680G= (p.Gln560=)
c.1737G= (p.Gln579=)
c.1686G= (p.Gln562=)
c.1791G= (p.Gln597=)
c.1698G= (p.Gln566=)
c.1797G= (p.Gln599=)
c.1827G= (p.Gln609=)
c.1818G= (p.Gln606=)
c.1788G= (p.Gln596=)
c.1731G= (p.Gln577=)
c.1677G= (p.Gln559=)
c.1470G= (p.Gln490=)
c.1884G= (p.Gln628=)
c.1878G= (p.Gln626=)
c.1875G= (p.Gln625=)
c.1935G= (p.Gln645=)
c.1926G= (p.Gln642=)
c.1845G= (p.Gln615=)
c.1794G= (p.Gln598=)
14g.33800083G>TCA389412335NPAS3c.1776G>T (p.Gln592His)
c.1785G>T (p.Gln595His)
c.1676G>T
c.793+2502G>T
c.1680G>T (p.Gln560His)
c.1737G>T (p.Gln579His)
c.1686G>T (p.Gln562His)
c.1791G>T (p.Gln597His)
c.1698G>T (p.Gln566His)
c.1797G>T (p.Gln599His)
c.1827G>T (p.Gln609His)
c.1818G>T (p.Gln606His)
c.1788G>T (p.Gln596His)
c.1731G>T (p.Gln577His)
c.1677G>T (p.Gln559His)
c.1470G>T (p.Gln490His)
c.1884G>T (p.Gln628His)
c.1878G>T (p.Gln626His)
c.1875G>T (p.Gln625His)
c.1935G>T (p.Gln645His)
c.1926G>T (p.Gln642His)
c.1845G>T (p.Gln615His)
c.1794G>T (p.Gln598His)
 gnomAD v4
14g.33800084G>ACA389412338NPAS3c.1777G>A (p.Ala593Thr)
c.1786G>A (p.Ala596Thr)
c.1677G>A
c.793+2503G>A
c.1681G>A (p.Ala561Thr)
c.1738G>A (p.Ala580Thr)
c.1687G>A (p.Ala563Thr)
c.1792G>A (p.Ala598Thr)
c.1699G>A (p.Ala567Thr)
c.1798G>A (p.Ala600Thr)
c.1828G>A (p.Ala610Thr)
c.1819G>A (p.Ala607Thr)
c.1789G>A (p.Ala597Thr)
c.1732G>A (p.Ala578Thr)
c.1678G>A (p.Ala560Thr)
c.1471G>A (p.Ala491Thr)
c.1885G>A (p.Ala629Thr)
c.1879G>A (p.Ala627Thr)
c.1876G>A (p.Ala626Thr)
c.1936G>A (p.Ala646Thr)
c.1927G>A (p.Ala643Thr)
c.1846G>A (p.Ala616Thr)
c.1795G>A (p.Ala599Thr)
 gnomAD v4
14g.33800084G>CCA389412341NPAS3c.1777G>C (p.Ala593Pro)
c.1786G>C (p.Ala596Pro)
c.1677G>C
c.793+2503G>C
c.1681G>C (p.Ala561Pro)
c.1738G>C (p.Ala580Pro)
c.1687G>C (p.Ala563Pro)
c.1792G>C (p.Ala598Pro)
c.1699G>C (p.Ala567Pro)
c.1798G>C (p.Ala600Pro)
c.1828G>C (p.Ala610Pro)
c.1819G>C (p.Ala607Pro)
c.1789G>C (p.Ala597Pro)
c.1732G>C (p.Ala578Pro)
c.1678G>C (p.Ala560Pro)
c.1471G>C (p.Ala491Pro)
c.1885G>C (p.Ala629Pro)
c.1879G>C (p.Ala627Pro)
c.1876G>C (p.Ala626Pro)
c.1936G>C (p.Ala646Pro)
c.1927G>C (p.Ala643Pro)
c.1846G>C (p.Ala616Pro)
c.1795G>C (p.Ala599Pro)
14g.33800084G>TCA389412344NPAS3c.1777G>T (p.Ala593Ser)
c.1786G>T (p.Ala596Ser)
c.1677G>T
c.793+2503G>T
c.1681G>T (p.Ala561Ser)
c.1738G>T (p.Ala580Ser)
c.1687G>T (p.Ala563Ser)
c.1792G>T (p.Ala598Ser)
c.1699G>T (p.Ala567Ser)
c.1798G>T (p.Ala600Ser)
c.1828G>T (p.Ala610Ser)
c.1819G>T (p.Ala607Ser)
c.1789G>T (p.Ala597Ser)
c.1732G>T (p.Ala578Ser)
c.1678G>T (p.Ala560Ser)
c.1471G>T (p.Ala491Ser)
c.1885G>T (p.Ala629Ser)
c.1879G>T (p.Ala627Ser)
c.1876G>T (p.Ala626Ser)
c.1936G>T (p.Ala646Ser)
c.1927G>T (p.Ala643Ser)
c.1846G>T (p.Ala616Ser)
c.1795G>T (p.Ala599Ser)
14g.33800085C>ACA389412345NPAS3c.1778C>A (p.Ala593Asp)
c.1787C>A (p.Ala596Asp)
c.1678C>A
c.793+2504C>A
c.1682C>A (p.Ala561Asp)
c.1739C>A (p.Ala580Asp)
c.1688C>A (p.Ala563Asp)
c.1793C>A (p.Ala598Asp)
c.1700C>A (p.Ala567Asp)
c.1799C>A (p.Ala600Asp)
c.1829C>A (p.Ala610Asp)
c.1820C>A (p.Ala607Asp)
c.1790C>A (p.Ala597Asp)
c.1733C>A (p.Ala578Asp)
c.1679C>A (p.Ala560Asp)
c.1472C>A (p.Ala491Asp)
c.1886C>A (p.Ala629Asp)
c.1880C>A (p.Ala627Asp)
c.1877C>A (p.Ala626Asp)
c.1937C>A (p.Ala646Asp)
c.1928C>A (p.Ala643Asp)
c.1847C>A (p.Ala616Asp)
c.1796C>A (p.Ala599Asp)
 dbSNP gnomAD v2 gnomAD v4
14g.33800085C=CA2128326851NPAS3c.1778C= (p.Ala593=)
c.1787C= (p.Ala596=)
c.1678C=
c.793+2504C=
c.1682C= (p.Ala561=)
c.1739C= (p.Ala580=)
c.1688C= (p.Ala563=)
c.1793C= (p.Ala598=)
c.1700C= (p.Ala567=)
c.1799C= (p.Ala600=)
c.1829C= (p.Ala610=)
c.1820C= (p.Ala607=)
c.1790C= (p.Ala597=)
c.1733C= (p.Ala578=)
c.1679C= (p.Ala560=)
c.1472C= (p.Ala491=)
c.1886C= (p.Ala629=)
c.1880C= (p.Ala627=)
c.1877C= (p.Ala626=)
c.1937C= (p.Ala646=)
c.1928C= (p.Ala643=)
c.1847C= (p.Ala616=)
c.1796C= (p.Ala599=)
14g.33800085C>GCA389412346NPAS3c.1778C>G (p.Ala593Gly)
c.1787C>G (p.Ala596Gly)
c.1678C>G
c.793+2504C>G
c.1682C>G (p.Ala561Gly)
c.1739C>G (p.Ala580Gly)
c.1688C>G (p.Ala563Gly)
c.1793C>G (p.Ala598Gly)
c.1700C>G (p.Ala567Gly)
c.1799C>G (p.Ala600Gly)
c.1829C>G (p.Ala610Gly)
c.1820C>G (p.Ala607Gly)
c.1790C>G (p.Ala597Gly)
c.1733C>G (p.Ala578Gly)
c.1679C>G (p.Ala560Gly)
c.1472C>G (p.Ala491Gly)
c.1886C>G (p.Ala629Gly)
c.1880C>G (p.Ala627Gly)
c.1877C>G (p.Ala626Gly)
c.1937C>G (p.Ala646Gly)
c.1928C>G (p.Ala643Gly)
c.1847C>G (p.Ala616Gly)
c.1796C>G (p.Ala599Gly)
 gnomAD v4
14g.33800085C>TCA389412348NPAS3c.1778C>T (p.Ala593Val)
c.1787C>T (p.Ala596Val)
c.1678C>T
c.793+2504C>T
c.1682C>T (p.Ala561Val)
c.1739C>T (p.Ala580Val)
c.1688C>T (p.Ala563Val)
c.1793C>T (p.Ala598Val)
c.1700C>T (p.Ala567Val)
c.1799C>T (p.Ala600Val)
c.1829C>T (p.Ala610Val)
c.1820C>T (p.Ala607Val)
c.1790C>T (p.Ala597Val)
c.1733C>T (p.Ala578Val)
c.1679C>T (p.Ala560Val)
c.1472C>T (p.Ala491Val)
c.1886C>T (p.Ala629Val)
c.1880C>T (p.Ala627Val)
c.1877C>T (p.Ala626Val)
c.1937C>T (p.Ala646Val)
c.1928C>T (p.Ala643Val)
c.1847C>T (p.Ala616Val)
c.1796C>T (p.Ala599Val)
14g.33800085_33800086insTTGGTTCA2801126434NPAS3c.1778_1779insTTGGTT (p.Ala593_Ser594insTrpPhe)
c.1787_1788insTTGGTT (p.Ala596_Ser597insTrpPhe)
c.1678_1679insTTGGTT
c.793+2504_793+2505insTTGGTT
c.1682_1683insTTGGTT (p.Ala561_Ser562insTrpPhe)
c.1739_1740insTTGGTT (p.Ala580_Ser581insTrpPhe)
c.1688_1689insTTGGTT (p.Ala563_Ser564insTrpPhe)
c.1793_1794insTTGGTT (p.Ala598_Ser599insTrpPhe)
c.1700_1701insTTGGTT (p.Ala567_Ser568insTrpPhe)
c.1799_1800insTTGGTT (p.Ala600_Ser601insTrpPhe)
c.1829_1830insTTGGTT (p.Ala610_Ser611insTrpPhe)
c.1820_1821insTTGGTT (p.Ala607_Ser608insTrpPhe)
c.1790_1791insTTGGTT (p.Ala597_Ser598insTrpPhe)
c.1733_1734insTTGGTT (p.Ala578_Ser579insTrpPhe)
c.1679_1680insTTGGTT (p.Ala560_Ser561insTrpPhe)
c.1472_1473insTTGGTT (p.Ala491_Ser492insTrpPhe)
c.1886_1887insTTGGTT (p.Ala629_Ser630insTrpPhe)
c.1880_1881insTTGGTT (p.Ala627_Ser628insTrpPhe)
c.1877_1878insTTGGTT (p.Ala626_Ser627insTrpPhe)
c.1937_1938insTTGGTT (p.Ala646_Ser647insTrpPhe)
c.1928_1929insTTGGTT (p.Ala643_Ser644insTrpPhe)
c.1847_1848insTTGGTT (p.Ala616_Ser617insTrpPhe)
c.1796_1797insTTGGTT (p.Ala599_Ser600insTrpPhe)
14g.33800086C>ACA486092988NPAS3c.1779C>A (p.Ala593=)
c.1788C>A (p.Ala596=)
c.1679C>A
c.793+2505C>A
c.1683C>A (p.Ala561=)
c.1740C>A (p.Ala580=)
c.1689C>A (p.Ala563=)
c.1794C>A (p.Ala598=)
c.1701C>A (p.Ala567=)
c.1800C>A (p.Ala600=)
c.1830C>A (p.Ala610=)
c.1821C>A (p.Ala607=)
c.1791C>A (p.Ala597=)
c.1734C>A (p.Ala578=)
c.1680C>A (p.Ala560=)
c.1473C>A (p.Ala491=)
c.1887C>A (p.Ala629=)
c.1881C>A (p.Ala627=)
c.1878C>A (p.Ala626=)
c.1938C>A (p.Ala646=)
c.1929C>A (p.Ala643=)
c.1848C>A (p.Ala616=)
c.1797C>A (p.Ala599=)
 gnomAD v4
14g.33800086C=CA2128326854NPAS3c.1779C= (p.Ala593=)
c.1788C= (p.Ala596=)
c.1679C=
c.793+2505C=
c.1683C= (p.Ala561=)
c.1740C= (p.Ala580=)
c.1689C= (p.Ala563=)
c.1794C= (p.Ala598=)
c.1701C= (p.Ala567=)
c.1800C= (p.Ala600=)
c.1830C= (p.Ala610=)
c.1821C= (p.Ala607=)
c.1791C= (p.Ala597=)
c.1734C= (p.Ala578=)
c.1680C= (p.Ala560=)
c.1473C= (p.Ala491=)
c.1887C= (p.Ala629=)
c.1881C= (p.Ala627=)
c.1878C= (p.Ala626=)
c.1938C= (p.Ala646=)
c.1929C= (p.Ala643=)
c.1848C= (p.Ala616=)
c.1797C= (p.Ala599=)
14g.33800086C>GCA486092989NPAS3c.1779C>G (p.Ala593=)
c.1788C>G (p.Ala596=)
c.1679C>G
c.793+2505C>G
c.1683C>G (p.Ala561=)
c.1740C>G (p.Ala580=)
c.1689C>G (p.Ala563=)
c.1794C>G (p.Ala598=)
c.1701C>G (p.Ala567=)
c.1800C>G (p.Ala600=)
c.1830C>G (p.Ala610=)
c.1821C>G (p.Ala607=)
c.1791C>G (p.Ala597=)
c.1734C>G (p.Ala578=)
c.1680C>G (p.Ala560=)
c.1473C>G (p.Ala491=)
c.1887C>G (p.Ala629=)
c.1881C>G (p.Ala627=)
c.1878C>G (p.Ala626=)
c.1938C>G (p.Ala646=)
c.1929C>G (p.Ala643=)
c.1848C>G (p.Ala616=)
c.1797C>G (p.Ala599=)
14g.33800086C>TCA258718622NPAS3c.1779C>T (p.Ala593=)
c.1788C>T (p.Ala596=)
c.1679C>T
c.793+2505C>T
c.1683C>T (p.Ala561=)
c.1740C>T (p.Ala580=)
c.1689C>T (p.Ala563=)
c.1794C>T (p.Ala598=)
c.1701C>T (p.Ala567=)
c.1800C>T (p.Ala600=)
c.1830C>T (p.Ala610=)
c.1821C>T (p.Ala607=)
c.1791C>T (p.Ala597=)
c.1734C>T (p.Ala578=)
c.1680C>T (p.Ala560=)
c.1473C>T (p.Ala491=)
c.1887C>T (p.Ala629=)
c.1881C>T (p.Ala627=)
c.1878C>T (p.Ala626=)
c.1938C>T (p.Ala646=)
c.1929C>T (p.Ala643=)
c.1848C>T (p.Ala616=)
c.1797C>T (p.Ala599=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800087T>ACA389412350NPAS3c.1780T>A (p.Ser594Thr)
c.1789T>A (p.Ser597Thr)
c.1680T>A
c.793+2506T>A
c.1684T>A (p.Ser562Thr)
c.1741T>A (p.Ser581Thr)
c.1690T>A (p.Ser564Thr)
c.1795T>A (p.Ser599Thr)
c.1702T>A (p.Ser568Thr)
c.1801T>A (p.Ser601Thr)
c.1831T>A (p.Ser611Thr)
c.1822T>A (p.Ser608Thr)
c.1792T>A (p.Ser598Thr)
c.1735T>A (p.Ser579Thr)
c.1681T>A (p.Ser561Thr)
c.1474T>A (p.Ser492Thr)
c.1888T>A (p.Ser630Thr)
c.1882T>A (p.Ser628Thr)
c.1879T>A (p.Ser627Thr)
c.1939T>A (p.Ser647Thr)
c.1930T>A (p.Ser644Thr)
c.1849T>A (p.Ser617Thr)
c.1798T>A (p.Ser600Thr)
 dbSNP gnomAD v2
14g.33800087T>CCA389412353NPAS3c.1780T>C (p.Ser594Pro)
c.1789T>C (p.Ser597Pro)
c.1680T>C
c.793+2506T>C
c.1684T>C (p.Ser562Pro)
c.1741T>C (p.Ser581Pro)
c.1690T>C (p.Ser564Pro)
c.1795T>C (p.Ser599Pro)
c.1702T>C (p.Ser568Pro)
c.1801T>C (p.Ser601Pro)
c.1831T>C (p.Ser611Pro)
c.1822T>C (p.Ser608Pro)
c.1792T>C (p.Ser598Pro)
c.1735T>C (p.Ser579Pro)
c.1681T>C (p.Ser561Pro)
c.1474T>C (p.Ser492Pro)
c.1888T>C (p.Ser630Pro)
c.1882T>C (p.Ser628Pro)
c.1879T>C (p.Ser627Pro)
c.1939T>C (p.Ser647Pro)
c.1930T>C (p.Ser644Pro)
c.1849T>C (p.Ser617Pro)
c.1798T>C (p.Ser600Pro)
 gnomAD v4
14g.33800087T>GCA389412356NPAS3c.1780T>G (p.Ser594Ala)
c.1789T>G (p.Ser597Ala)
c.1680T>G
c.793+2506T>G
c.1684T>G (p.Ser562Ala)
c.1741T>G (p.Ser581Ala)
c.1690T>G (p.Ser564Ala)
c.1795T>G (p.Ser599Ala)
c.1702T>G (p.Ser568Ala)
c.1801T>G (p.Ser601Ala)
c.1831T>G (p.Ser611Ala)
c.1822T>G (p.Ser608Ala)
c.1792T>G (p.Ser598Ala)
c.1735T>G (p.Ser579Ala)
c.1681T>G (p.Ser561Ala)
c.1474T>G (p.Ser492Ala)
c.1888T>G (p.Ser630Ala)
c.1882T>G (p.Ser628Ala)
c.1879T>G (p.Ser627Ala)
c.1939T>G (p.Ser647Ala)
c.1930T>G (p.Ser644Ala)
c.1849T>G (p.Ser617Ala)
c.1798T>G (p.Ser600Ala)
14g.33800087T=CA2128326857NPAS3c.1780T= (p.Ser594=)
c.1789T= (p.Ser597=)
c.1680T=
c.793+2506T=
c.1684T= (p.Ser562=)
c.1741T= (p.Ser581=)
c.1690T= (p.Ser564=)
c.1795T= (p.Ser599=)
c.1702T= (p.Ser568=)
c.1801T= (p.Ser601=)
c.1831T= (p.Ser611=)
c.1822T= (p.Ser608=)
c.1792T= (p.Ser598=)
c.1735T= (p.Ser579=)
c.1681T= (p.Ser561=)
c.1474T= (p.Ser492=)
c.1888T= (p.Ser630=)
c.1882T= (p.Ser628=)
c.1879T= (p.Ser627=)
c.1939T= (p.Ser647=)
c.1930T= (p.Ser644=)
c.1849T= (p.Ser617=)
c.1798T= (p.Ser600=)
14g.33800087_33800088insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGGCA2801126435NPAS3c.1780_1781insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser594CysfsTer24)
c.1789_1790insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser597CysfsTer24)
c.1680_1681insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG
c.793+2506_793+2507insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG
c.1684_1685insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser562CysfsTer24)
c.1741_1742insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser581CysfsTer24)
c.1690_1691insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser564CysfsTer24)
c.1795_1796insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser599CysfsTer24)
c.1702_1703insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser568CysfsTer24)
c.1801_1802insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser601CysfsTer24)
c.1831_1832insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser611CysfsTer24)
c.1822_1823insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser608CysfsTer24)
c.1792_1793insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser598CysfsTer24)
c.1735_1736insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser579CysfsTer24)
c.1681_1682insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser561CysfsTer24)
c.1474_1475insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser492CysfsTer24)
c.1888_1889insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser630CysfsTer24)
c.1882_1883insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser628CysfsTer24)
c.1879_1880insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser627CysfsTer24)
c.1939_1940insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser647CysfsTer24)
c.1930_1931insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser644CysfsTer24)
c.1849_1850insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser617CysfsTer24)
c.1798_1799insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG (p.Ser600CysfsTer24)
14g.33800088C>ACA389412364NPAS3c.1781C>A (p.Ser594Tyr)
c.1790C>A (p.Ser597Tyr)
c.1681C>A
c.793+2507C>A
c.1685C>A (p.Ser562Tyr)
c.1742C>A (p.Ser581Tyr)
c.1691C>A (p.Ser564Tyr)
c.1796C>A (p.Ser599Tyr)
c.1703C>A (p.Ser568Tyr)
c.1802C>A (p.Ser601Tyr)
c.1832C>A (p.Ser611Tyr)
c.1823C>A (p.Ser608Tyr)
c.1793C>A (p.Ser598Tyr)
c.1736C>A (p.Ser579Tyr)
c.1682C>A (p.Ser561Tyr)
c.1475C>A (p.Ser492Tyr)
c.1889C>A (p.Ser630Tyr)
c.1883C>A (p.Ser628Tyr)
c.1880C>A (p.Ser627Tyr)
c.1940C>A (p.Ser647Tyr)
c.1931C>A (p.Ser644Tyr)
c.1850C>A (p.Ser617Tyr)
c.1799C>A (p.Ser600Tyr)
 gnomAD v4
14g.33800088C>GCA389412363NPAS3c.1781C>G (p.Ser594Cys)
c.1790C>G (p.Ser597Cys)
c.1681C>G
c.793+2507C>G
c.1685C>G (p.Ser562Cys)
c.1742C>G (p.Ser581Cys)
c.1691C>G (p.Ser564Cys)
c.1796C>G (p.Ser599Cys)
c.1703C>G (p.Ser568Cys)
c.1802C>G (p.Ser601Cys)
c.1832C>G (p.Ser611Cys)
c.1823C>G (p.Ser608Cys)
c.1793C>G (p.Ser598Cys)
c.1736C>G (p.Ser579Cys)
c.1682C>G (p.Ser561Cys)
c.1475C>G (p.Ser492Cys)
c.1889C>G (p.Ser630Cys)
c.1883C>G (p.Ser628Cys)
c.1880C>G (p.Ser627Cys)
c.1940C>G (p.Ser647Cys)
c.1931C>G (p.Ser644Cys)
c.1850C>G (p.Ser617Cys)
c.1799C>G (p.Ser600Cys)
14g.33800088C>TCA389412359NPAS3c.1781C>T (p.Ser594Phe)
c.1790C>T (p.Ser597Phe)
c.1681C>T
c.793+2507C>T
c.1685C>T (p.Ser562Phe)
c.1742C>T (p.Ser581Phe)
c.1691C>T (p.Ser564Phe)
c.1796C>T (p.Ser599Phe)
c.1703C>T (p.Ser568Phe)
c.1802C>T (p.Ser601Phe)
c.1832C>T (p.Ser611Phe)
c.1823C>T (p.Ser608Phe)
c.1793C>T (p.Ser598Phe)
c.1736C>T (p.Ser579Phe)
c.1682C>T (p.Ser561Phe)
c.1475C>T (p.Ser492Phe)
c.1889C>T (p.Ser630Phe)
c.1883C>T (p.Ser628Phe)
c.1880C>T (p.Ser627Phe)
c.1940C>T (p.Ser647Phe)
c.1931C>T (p.Ser644Phe)
c.1850C>T (p.Ser617Phe)
c.1799C>T (p.Ser600Phe)
14g.33800089C>ACA486092990NPAS3c.1782C>A (p.Ser594=)
c.1791C>A (p.Ser597=)
c.1682C>A
c.793+2508C>A
c.1686C>A (p.Ser562=)
c.1743C>A (p.Ser581=)
c.1692C>A (p.Ser564=)
c.1797C>A (p.Ser599=)
c.1704C>A (p.Ser568=)
c.1803C>A (p.Ser601=)
c.1833C>A (p.Ser611=)
c.1824C>A (p.Ser608=)
c.1794C>A (p.Ser598=)
c.1737C>A (p.Ser579=)
c.1683C>A (p.Ser561=)
c.1476C>A (p.Ser492=)
c.1890C>A (p.Ser630=)
c.1884C>A (p.Ser628=)
c.1881C>A (p.Ser627=)
c.1941C>A (p.Ser647=)
c.1932C>A (p.Ser644=)
c.1851C>A (p.Ser617=)
c.1800C>A (p.Ser600=)
 dbSNP gnomAD v2 gnomAD v4
14g.33800089C=CA2128326860NPAS3c.1782C= (p.Ser594=)
c.1791C= (p.Ser597=)
c.1682C=
c.793+2508C=
c.1686C= (p.Ser562=)
c.1743C= (p.Ser581=)
c.1692C= (p.Ser564=)
c.1797C= (p.Ser599=)
c.1704C= (p.Ser568=)
c.1803C= (p.Ser601=)
c.1833C= (p.Ser611=)
c.1824C= (p.Ser608=)
c.1794C= (p.Ser598=)
c.1737C= (p.Ser579=)
c.1683C= (p.Ser561=)
c.1476C= (p.Ser492=)
c.1890C= (p.Ser630=)
c.1884C= (p.Ser628=)
c.1881C= (p.Ser627=)
c.1941C= (p.Ser647=)
c.1932C= (p.Ser644=)
c.1851C= (p.Ser617=)
c.1800C= (p.Ser600=)
14g.33800089C>GCA486092991NPAS3c.1782C>G (p.Ser594=)
c.1791C>G (p.Ser597=)
c.1682C>G
c.793+2508C>G
c.1686C>G (p.Ser562=)
c.1743C>G (p.Ser581=)
c.1692C>G (p.Ser564=)
c.1797C>G (p.Ser599=)
c.1704C>G (p.Ser568=)
c.1803C>G (p.Ser601=)
c.1833C>G (p.Ser611=)
c.1824C>G (p.Ser608=)
c.1794C>G (p.Ser598=)
c.1737C>G (p.Ser579=)
c.1683C>G (p.Ser561=)
c.1476C>G (p.Ser492=)
c.1890C>G (p.Ser630=)
c.1884C>G (p.Ser628=)
c.1881C>G (p.Ser627=)
c.1941C>G (p.Ser647=)
c.1932C>G (p.Ser644=)
c.1851C>G (p.Ser617=)
c.1800C>G (p.Ser600=)
14g.33800089C>TCA486092992NPAS3c.1782C>T (p.Ser594=)
c.1791C>T (p.Ser597=)
c.1682C>T
c.793+2508C>T
c.1686C>T (p.Ser562=)
c.1743C>T (p.Ser581=)
c.1692C>T (p.Ser564=)
c.1797C>T (p.Ser599=)
c.1704C>T (p.Ser568=)
c.1803C>T (p.Ser601=)
c.1833C>T (p.Ser611=)
c.1824C>T (p.Ser608=)
c.1794C>T (p.Ser598=)
c.1737C>T (p.Ser579=)
c.1683C>T (p.Ser561=)
c.1476C>T (p.Ser492=)
c.1890C>T (p.Ser630=)
c.1884C>T (p.Ser628=)
c.1881C>T (p.Ser627=)
c.1941C>T (p.Ser647=)
c.1932C>T (p.Ser644=)
c.1851C>T (p.Ser617=)
c.1800C>T (p.Ser600=)
14g.33800090A>CCA389412365NPAS3c.1783A>C (p.Ser595Arg)
c.1792A>C (p.Ser598Arg)
c.1683A>C
c.793+2509A>C
c.1687A>C (p.Ser563Arg)
c.1744A>C (p.Ser582Arg)
c.1693A>C (p.Ser565Arg)
c.1798A>C (p.Ser600Arg)
c.1705A>C (p.Ser569Arg)
c.1804A>C (p.Ser602Arg)
c.1834A>C (p.Ser612Arg)
c.1825A>C (p.Ser609Arg)
c.1795A>C (p.Ser599Arg)
c.1738A>C (p.Ser580Arg)
c.1684A>C (p.Ser562Arg)
c.1477A>C (p.Ser493Arg)
c.1891A>C (p.Ser631Arg)
c.1885A>C (p.Ser629Arg)
c.1882A>C (p.Ser628Arg)
c.1942A>C (p.Ser648Arg)
c.1933A>C (p.Ser645Arg)
c.1852A>C (p.Ser618Arg)
c.1801A>C (p.Ser601Arg)
14g.33800090A>GCA389412366NPAS3c.1783A>G (p.Ser595Gly)
c.1792A>G (p.Ser598Gly)
c.1683A>G
c.793+2509A>G
c.1687A>G (p.Ser563Gly)
c.1744A>G (p.Ser582Gly)
c.1693A>G (p.Ser565Gly)
c.1798A>G (p.Ser600Gly)
c.1705A>G (p.Ser569Gly)
c.1804A>G (p.Ser602Gly)
c.1834A>G (p.Ser612Gly)
c.1825A>G (p.Ser609Gly)
c.1795A>G (p.Ser599Gly)
c.1738A>G (p.Ser580Gly)
c.1684A>G (p.Ser562Gly)
c.1477A>G (p.Ser493Gly)
c.1891A>G (p.Ser631Gly)
c.1885A>G (p.Ser629Gly)
c.1882A>G (p.Ser628Gly)
c.1942A>G (p.Ser648Gly)
c.1933A>G (p.Ser645Gly)
c.1852A>G (p.Ser618Gly)
c.1801A>G (p.Ser601Gly)
 gnomAD v4
14g.33800090A>TCA389412367NPAS3c.1783A>T (p.Ser595Cys)
c.1792A>T (p.Ser598Cys)
c.1683A>T
c.793+2509A>T
c.1687A>T (p.Ser563Cys)
c.1744A>T (p.Ser582Cys)
c.1693A>T (p.Ser565Cys)
c.1798A>T (p.Ser600Cys)
c.1705A>T (p.Ser569Cys)
c.1804A>T (p.Ser602Cys)
c.1834A>T (p.Ser612Cys)
c.1825A>T (p.Ser609Cys)
c.1795A>T (p.Ser599Cys)
c.1738A>T (p.Ser580Cys)
c.1684A>T (p.Ser562Cys)
c.1477A>T (p.Ser493Cys)
c.1891A>T (p.Ser631Cys)
c.1885A>T (p.Ser629Cys)
c.1882A>T (p.Ser628Cys)
c.1942A>T (p.Ser648Cys)
c.1933A>T (p.Ser645Cys)
c.1852A>T (p.Ser618Cys)
c.1801A>T (p.Ser601Cys)
14g.33800091G>ACA389412368NPAS3c.1784G>A (p.Ser595Asn)
c.1793G>A (p.Ser598Asn)
c.1684G>A
c.793+2510G>A
c.1688G>A (p.Ser563Asn)
c.1745G>A (p.Ser582Asn)
c.1694G>A (p.Ser565Asn)
c.1799G>A (p.Ser600Asn)
c.1706G>A (p.Ser569Asn)
c.1805G>A (p.Ser602Asn)
c.1835G>A (p.Ser612Asn)
c.1826G>A (p.Ser609Asn)
c.1796G>A (p.Ser599Asn)
c.1739G>A (p.Ser580Asn)
c.1685G>A (p.Ser562Asn)
c.1478G>A (p.Ser493Asn)
c.1892G>A (p.Ser631Asn)
c.1886G>A (p.Ser629Asn)
c.1883G>A (p.Ser628Asn)
c.1943G>A (p.Ser648Asn)
c.1934G>A (p.Ser645Asn)
c.1853G>A (p.Ser618Asn)
c.1802G>A (p.Ser601Asn)
14g.33800091G>CCA389412370NPAS3c.1784G>C (p.Ser595Thr)
c.1793G>C (p.Ser598Thr)
c.1684G>C
c.793+2510G>C
c.1688G>C (p.Ser563Thr)
c.1745G>C (p.Ser582Thr)
c.1694G>C (p.Ser565Thr)
c.1799G>C (p.Ser600Thr)
c.1706G>C (p.Ser569Thr)
c.1805G>C (p.Ser602Thr)
c.1835G>C (p.Ser612Thr)
c.1826G>C (p.Ser609Thr)
c.1796G>C (p.Ser599Thr)
c.1739G>C (p.Ser580Thr)
c.1685G>C (p.Ser562Thr)
c.1478G>C (p.Ser493Thr)
c.1892G>C (p.Ser631Thr)
c.1886G>C (p.Ser629Thr)
c.1883G>C (p.Ser628Thr)
c.1943G>C (p.Ser648Thr)
c.1934G>C (p.Ser645Thr)
c.1853G>C (p.Ser618Thr)
c.1802G>C (p.Ser601Thr)
14g.33800091G>TCA389412372NPAS3c.1784G>T (p.Ser595Ile)
c.1793G>T (p.Ser598Ile)
c.1684G>T
c.793+2510G>T
c.1688G>T (p.Ser563Ile)
c.1745G>T (p.Ser582Ile)
c.1694G>T (p.Ser565Ile)
c.1799G>T (p.Ser600Ile)
c.1706G>T (p.Ser569Ile)
c.1805G>T (p.Ser602Ile)
c.1835G>T (p.Ser612Ile)
c.1826G>T (p.Ser609Ile)
c.1796G>T (p.Ser599Ile)
c.1739G>T (p.Ser580Ile)
c.1685G>T (p.Ser562Ile)
c.1478G>T (p.Ser493Ile)
c.1892G>T (p.Ser631Ile)
c.1886G>T (p.Ser629Ile)
c.1883G>T (p.Ser628Ile)
c.1943G>T (p.Ser648Ile)
c.1934G>T (p.Ser645Ile)
c.1853G>T (p.Ser618Ile)
c.1802G>T (p.Ser601Ile)
14g.33800092C>ACA389412374NPAS3c.1785C>A (p.Ser595Arg)
c.1794C>A (p.Ser598Arg)
c.1685C>A
c.793+2511C>A
c.1689C>A (p.Ser563Arg)
c.1746C>A (p.Ser582Arg)
c.1695C>A (p.Ser565Arg)
c.1800C>A (p.Ser600Arg)
c.1707C>A (p.Ser569Arg)
c.1806C>A (p.Ser602Arg)
c.1836C>A (p.Ser612Arg)
c.1827C>A (p.Ser609Arg)
c.1797C>A (p.Ser599Arg)
c.1740C>A (p.Ser580Arg)
c.1686C>A (p.Ser562Arg)
c.1479C>A (p.Ser493Arg)
c.1893C>A (p.Ser631Arg)
c.1887C>A (p.Ser629Arg)
c.1884C>A (p.Ser628Arg)
c.1944C>A (p.Ser648Arg)
c.1935C>A (p.Ser645Arg)
c.1854C>A (p.Ser618Arg)
c.1803C>A (p.Ser601Arg)
 gnomAD v4
14g.33800092C>GCA389412376NPAS3c.1785C>G (p.Ser595Arg)
c.1794C>G (p.Ser598Arg)
c.1685C>G
c.793+2511C>G
c.1689C>G (p.Ser563Arg)
c.1746C>G (p.Ser582Arg)
c.1695C>G (p.Ser565Arg)
c.1800C>G (p.Ser600Arg)
c.1707C>G (p.Ser569Arg)
c.1806C>G (p.Ser602Arg)
c.1836C>G (p.Ser612Arg)
c.1827C>G (p.Ser609Arg)
c.1797C>G (p.Ser599Arg)
c.1740C>G (p.Ser580Arg)
c.1686C>G (p.Ser562Arg)
c.1479C>G (p.Ser493Arg)
c.1893C>G (p.Ser631Arg)
c.1887C>G (p.Ser629Arg)
c.1884C>G (p.Ser628Arg)
c.1944C>G (p.Ser648Arg)
c.1935C>G (p.Ser645Arg)
c.1854C>G (p.Ser618Arg)
c.1803C>G (p.Ser601Arg)
14g.33800092C>TCA486092763NPAS3c.1785C>T (p.Ser595=)
c.1794C>T (p.Ser598=)
c.1685C>T
c.793+2511C>T
c.1689C>T (p.Ser563=)
c.1746C>T (p.Ser582=)
c.1695C>T (p.Ser565=)
c.1800C>T (p.Ser600=)
c.1707C>T (p.Ser569=)
c.1806C>T (p.Ser602=)
c.1836C>T (p.Ser612=)
c.1827C>T (p.Ser609=)
c.1797C>T (p.Ser599=)
c.1740C>T (p.Ser580=)
c.1686C>T (p.Ser562=)
c.1479C>T (p.Ser493=)
c.1893C>T (p.Ser631=)
c.1887C>T (p.Ser629=)
c.1884C>T (p.Ser628=)
c.1944C>T (p.Ser648=)
c.1935C>T (p.Ser645=)
c.1854C>T (p.Ser618=)
c.1803C>T (p.Ser601=)
14g.33800093A=CA2128326862NPAS3c.1786A= (p.Lys596=)
c.1795A= (p.Lys599=)
c.1686A=
c.793+2512A=
c.1690A= (p.Lys564=)
c.1747A= (p.Lys583=)
c.1696A= (p.Lys566=)
c.1801A= (p.Lys601=)
c.1708A= (p.Lys570=)
c.1807A= (p.Lys603=)
c.1837A= (p.Lys613=)
c.1828A= (p.Lys610=)
c.1798A= (p.Lys600=)
c.1741A= (p.Lys581=)
c.1687A= (p.Lys563=)
c.1480A= (p.Lys494=)
c.1894A= (p.Lys632=)
c.1888A= (p.Lys630=)
c.1885A= (p.Lys629=)
c.1945A= (p.Lys649=)
c.1936A= (p.Lys646=)
c.1855A= (p.Lys619=)
c.1804A= (p.Lys602=)
14g.33800093A>CCA389412378NPAS3c.1786A>C (p.Lys596Gln)
c.1795A>C (p.Lys599Gln)
c.1686A>C
c.793+2512A>C
c.1690A>C (p.Lys564Gln)
c.1747A>C (p.Lys583Gln)
c.1696A>C (p.Lys566Gln)
c.1801A>C (p.Lys601Gln)
c.1708A>C (p.Lys570Gln)
c.1807A>C (p.Lys603Gln)
c.1837A>C (p.Lys613Gln)
c.1828A>C (p.Lys610Gln)
c.1798A>C (p.Lys600Gln)
c.1741A>C (p.Lys581Gln)
c.1687A>C (p.Lys563Gln)
c.1480A>C (p.Lys494Gln)
c.1894A>C (p.Lys632Gln)
c.1888A>C (p.Lys630Gln)
c.1885A>C (p.Lys629Gln)
c.1945A>C (p.Lys649Gln)
c.1936A>C (p.Lys646Gln)
c.1855A>C (p.Lys619Gln)
c.1804A>C (p.Lys602Gln)
14g.33800093A>GCA389412381NPAS3c.1786A>G (p.Lys596Glu)
c.1795A>G (p.Lys599Glu)
c.1686A>G
c.793+2512A>G
c.1690A>G (p.Lys564Glu)
c.1747A>G (p.Lys583Glu)
c.1696A>G (p.Lys566Glu)
c.1801A>G (p.Lys601Glu)
c.1708A>G (p.Lys570Glu)
c.1807A>G (p.Lys603Glu)
c.1837A>G (p.Lys613Glu)
c.1828A>G (p.Lys610Glu)
c.1798A>G (p.Lys600Glu)
c.1741A>G (p.Lys581Glu)
c.1687A>G (p.Lys563Glu)
c.1480A>G (p.Lys494Glu)
c.1894A>G (p.Lys632Glu)
c.1888A>G (p.Lys630Glu)
c.1885A>G (p.Lys629Glu)
c.1945A>G (p.Lys649Glu)
c.1936A>G (p.Lys646Glu)
c.1855A>G (p.Lys619Glu)
c.1804A>G (p.Lys602Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800093A>TCA389412384NPAS3c.1786A>T (p.Lys596Ter)
c.1795A>T (p.Lys599Ter)
c.1686A>T
c.793+2512A>T
c.1690A>T (p.Lys564Ter)
c.1747A>T (p.Lys583Ter)
c.1696A>T (p.Lys566Ter)
c.1801A>T (p.Lys601Ter)
c.1708A>T (p.Lys570Ter)
c.1807A>T (p.Lys603Ter)
c.1837A>T (p.Lys613Ter)
c.1828A>T (p.Lys610Ter)
c.1798A>T (p.Lys600Ter)
c.1741A>T (p.Lys581Ter)
c.1687A>T (p.Lys563Ter)
c.1480A>T (p.Lys494Ter)
c.1894A>T (p.Lys632Ter)
c.1888A>T (p.Lys630Ter)
c.1885A>T (p.Lys629Ter)
c.1945A>T (p.Lys649Ter)
c.1936A>T (p.Lys646Ter)
c.1855A>T (p.Lys619Ter)
c.1804A>T (p.Lys602Ter)
14g.33800094A>CCA389412392NPAS3c.1787A>C (p.Lys596Thr)
c.1796A>C (p.Lys599Thr)
c.1687A>C
c.793+2513A>C
c.1691A>C (p.Lys564Thr)
c.1748A>C (p.Lys583Thr)
c.1697A>C (p.Lys566Thr)
c.1802A>C (p.Lys601Thr)
c.1709A>C (p.Lys570Thr)
c.1808A>C (p.Lys603Thr)
c.1838A>C (p.Lys613Thr)
c.1829A>C (p.Lys610Thr)
c.1799A>C (p.Lys600Thr)
c.1742A>C (p.Lys581Thr)
c.1688A>C (p.Lys563Thr)
c.1481A>C (p.Lys494Thr)
c.1895A>C (p.Lys632Thr)
c.1889A>C (p.Lys630Thr)
c.1886A>C (p.Lys629Thr)
c.1946A>C (p.Lys649Thr)
c.1937A>C (p.Lys646Thr)
c.1856A>C (p.Lys619Thr)
c.1805A>C (p.Lys602Thr)
14g.33800094A>GCA389412390NPAS3c.1787A>G (p.Lys596Arg)
c.1796A>G (p.Lys599Arg)
c.1687A>G
c.793+2513A>G
c.1691A>G (p.Lys564Arg)
c.1748A>G (p.Lys583Arg)
c.1697A>G (p.Lys566Arg)
c.1802A>G (p.Lys601Arg)
c.1709A>G (p.Lys570Arg)
c.1808A>G (p.Lys603Arg)
c.1838A>G (p.Lys613Arg)
c.1829A>G (p.Lys610Arg)
c.1799A>G (p.Lys600Arg)
c.1742A>G (p.Lys581Arg)
c.1688A>G (p.Lys563Arg)
c.1481A>G (p.Lys494Arg)
c.1895A>G (p.Lys632Arg)
c.1889A>G (p.Lys630Arg)
c.1886A>G (p.Lys629Arg)
c.1946A>G (p.Lys649Arg)
c.1937A>G (p.Lys646Arg)
c.1856A>G (p.Lys619Arg)
c.1805A>G (p.Lys602Arg)
14g.33800094A>TCA389412387NPAS3c.1787A>T (p.Lys596Met)
c.1796A>T (p.Lys599Met)
c.1687A>T
c.793+2513A>T
c.1691A>T (p.Lys564Met)
c.1748A>T (p.Lys583Met)
c.1697A>T (p.Lys566Met)
c.1802A>T (p.Lys601Met)
c.1709A>T (p.Lys570Met)
c.1808A>T (p.Lys603Met)
c.1838A>T (p.Lys613Met)
c.1829A>T (p.Lys610Met)
c.1799A>T (p.Lys600Met)
c.1742A>T (p.Lys581Met)
c.1688A>T (p.Lys563Met)
c.1481A>T (p.Lys494Met)
c.1895A>T (p.Lys632Met)
c.1889A>T (p.Lys630Met)
c.1886A>T (p.Lys629Met)
c.1946A>T (p.Lys649Met)
c.1937A>T (p.Lys646Met)
c.1856A>T (p.Lys619Met)
c.1805A>T (p.Lys602Met)
14g.33800095G>ACA486092766NPAS3c.1788G>A (p.Lys596=)
c.1797G>A (p.Lys599=)
c.1688G>A
c.793+2514G>A
c.1692G>A (p.Lys564=)
c.1749G>A (p.Lys583=)
c.1698G>A (p.Lys566=)
c.1803G>A (p.Lys601=)
c.1710G>A (p.Lys570=)
c.1809G>A (p.Lys603=)
c.1839G>A (p.Lys613=)
c.1830G>A (p.Lys610=)
c.1800G>A (p.Lys600=)
c.1743G>A (p.Lys581=)
c.1689G>A (p.Lys563=)
c.1482G>A (p.Lys494=)
c.1896G>A (p.Lys632=)
c.1890G>A (p.Lys630=)
c.1887G>A (p.Lys629=)
c.1947G>A (p.Lys649=)
c.1938G>A (p.Lys646=)
c.1857G>A (p.Lys619=)
c.1806G>A (p.Lys602=)
 gnomAD v4
14g.33800095G>CCA389412394NPAS3c.1788G>C (p.Lys596Asn)
c.1797G>C (p.Lys599Asn)
c.1688G>C
c.793+2514G>C
c.1692G>C (p.Lys564Asn)
c.1749G>C (p.Lys583Asn)
c.1698G>C (p.Lys566Asn)
c.1803G>C (p.Lys601Asn)
c.1710G>C (p.Lys570Asn)
c.1809G>C (p.Lys603Asn)
c.1839G>C (p.Lys613Asn)
c.1830G>C (p.Lys610Asn)
c.1800G>C (p.Lys600Asn)
c.1743G>C (p.Lys581Asn)
c.1689G>C (p.Lys563Asn)
c.1482G>C (p.Lys494Asn)
c.1896G>C (p.Lys632Asn)
c.1890G>C (p.Lys630Asn)
c.1887G>C (p.Lys629Asn)
c.1947G>C (p.Lys649Asn)
c.1938G>C (p.Lys646Asn)
c.1857G>C (p.Lys619Asn)
c.1806G>C (p.Lys602Asn)
14g.33800095G>TCA389412397NPAS3c.1788G>T (p.Lys596Asn)
c.1797G>T (p.Lys599Asn)
c.1688G>T
c.793+2514G>T
c.1692G>T (p.Lys564Asn)
c.1749G>T (p.Lys583Asn)
c.1698G>T (p.Lys566Asn)
c.1803G>T (p.Lys601Asn)
c.1710G>T (p.Lys570Asn)
c.1809G>T (p.Lys603Asn)
c.1839G>T (p.Lys613Asn)
c.1830G>T (p.Lys610Asn)
c.1800G>T (p.Lys600Asn)
c.1743G>T (p.Lys581Asn)
c.1689G>T (p.Lys563Asn)
c.1482G>T (p.Lys494Asn)
c.1896G>T (p.Lys632Asn)
c.1890G>T (p.Lys630Asn)
c.1887G>T (p.Lys629Asn)
c.1947G>T (p.Lys649Asn)
c.1938G>T (p.Lys646Asn)
c.1857G>T (p.Lys619Asn)
c.1806G>T (p.Lys602Asn)
14g.33800096C>ACA389412404NPAS3c.1789C>A (p.His597Asn)
c.1798C>A (p.His600Asn)
c.1689C>A
c.793+2515C>A
c.1693C>A (p.His565Asn)
c.1750C>A (p.His584Asn)
c.1699C>A (p.His567Asn)
c.1804C>A (p.His602Asn)
c.1711C>A (p.His571Asn)
c.1810C>A (p.His604Asn)
c.1840C>A (p.His614Asn)
c.1831C>A (p.His611Asn)
c.1801C>A (p.His601Asn)
c.1744C>A (p.His582Asn)
c.1690C>A (p.His564Asn)
c.1483C>A (p.His495Asn)
c.1897C>A (p.His633Asn)
c.1891C>A (p.His631Asn)
c.1888C>A (p.His630Asn)
c.1948C>A (p.His650Asn)
c.1939C>A (p.His647Asn)
c.1858C>A (p.His620Asn)
c.1807C>A (p.His603Asn)
 gnomAD v4
14g.33800096C=CA2128326864NPAS3c.1789C= (p.His597=)
c.1798C= (p.His600=)
c.1689C=
c.793+2515C=
c.1693C= (p.His565=)
c.1750C= (p.His584=)
c.1699C= (p.His567=)
c.1804C= (p.His602=)
c.1711C= (p.His571=)
c.1810C= (p.His604=)
c.1840C= (p.His614=)
c.1831C= (p.His611=)
c.1801C= (p.His601=)
c.1744C= (p.His582=)
c.1690C= (p.His564=)
c.1483C= (p.His495=)
c.1897C= (p.His633=)
c.1891C= (p.His631=)
c.1888C= (p.His630=)
c.1948C= (p.His650=)
c.1939C= (p.His647=)
c.1858C= (p.His620=)
c.1807C= (p.His603=)
14g.33800096C>GCA389412406NPAS3c.1789C>G (p.His597Asp)
c.1798C>G (p.His600Asp)
c.1689C>G
c.793+2515C>G
c.1693C>G (p.His565Asp)
c.1750C>G (p.His584Asp)
c.1699C>G (p.His567Asp)
c.1804C>G (p.His602Asp)
c.1711C>G (p.His571Asp)
c.1810C>G (p.His604Asp)
c.1840C>G (p.His614Asp)
c.1831C>G (p.His611Asp)
c.1801C>G (p.His601Asp)
c.1744C>G (p.His582Asp)
c.1690C>G (p.His564Asp)
c.1483C>G (p.His495Asp)
c.1897C>G (p.His633Asp)
c.1891C>G (p.His631Asp)
c.1888C>G (p.His630Asp)
c.1948C>G (p.His650Asp)
c.1939C>G (p.His647Asp)
c.1858C>G (p.His620Asp)
c.1807C>G (p.His603Asp)
14g.33800096C>TCA389412407NPAS3c.1789C>T (p.His597Tyr)
c.1798C>T (p.His600Tyr)
c.1689C>T
c.793+2515C>T
c.1693C>T (p.His565Tyr)
c.1750C>T (p.His584Tyr)
c.1699C>T (p.His567Tyr)
c.1804C>T (p.His602Tyr)
c.1711C>T (p.His571Tyr)
c.1810C>T (p.His604Tyr)
c.1840C>T (p.His614Tyr)
c.1831C>T (p.His611Tyr)
c.1801C>T (p.His601Tyr)
c.1744C>T (p.His582Tyr)
c.1690C>T (p.His564Tyr)
c.1483C>T (p.His495Tyr)
c.1897C>T (p.His633Tyr)
c.1891C>T (p.His631Tyr)
c.1888C>T (p.His630Tyr)
c.1948C>T (p.His650Tyr)
c.1939C>T (p.His647Tyr)
c.1858C>T (p.His620Tyr)
c.1807C>T (p.His603Tyr)
 dbSNP gnomAD v2 gnomAD v4
14g.33800097A=CA2128326866NPAS3c.1790A= (p.His597=)
c.1799A= (p.His600=)
c.1690A=
c.793+2516A=
c.1694A= (p.His565=)
c.1751A= (p.His584=)
c.1700A= (p.His567=)
c.1805A= (p.His602=)
c.1712A= (p.His571=)
c.1811A= (p.His604=)
c.1841A= (p.His614=)
c.1832A= (p.His611=)
c.1802A= (p.His601=)
c.1745A= (p.His582=)
c.1691A= (p.His564=)
c.1484A= (p.His495=)
c.1898A= (p.His633=)
c.1892A= (p.His631=)
c.1889A= (p.His630=)
c.1949A= (p.His650=)
c.1940A= (p.His647=)
c.1859A= (p.His620=)
c.1808A= (p.His603=)
14g.33800097A>CCA7150878NPAS3c.1790A>C (p.His597Pro)
c.1799A>C (p.His600Pro)
c.1690A>C
c.793+2516A>C
c.1694A>C (p.His565Pro)
c.1751A>C (p.His584Pro)
c.1700A>C (p.His567Pro)
c.1805A>C (p.His602Pro)
c.1712A>C (p.His571Pro)
c.1811A>C (p.His604Pro)
c.1841A>C (p.His614Pro)
c.1832A>C (p.His611Pro)
c.1802A>C (p.His601Pro)
c.1745A>C (p.His582Pro)
c.1691A>C (p.His564Pro)
c.1484A>C (p.His495Pro)
c.1898A>C (p.His633Pro)
c.1892A>C (p.His631Pro)
c.1889A>C (p.His630Pro)
c.1949A>C (p.His650Pro)
c.1940A>C (p.His647Pro)
c.1859A>C (p.His620Pro)
c.1808A>C (p.His603Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800097A>GCA389412411NPAS3c.1790A>G (p.His597Arg)
c.1799A>G (p.His600Arg)
c.1690A>G
c.793+2516A>G
c.1694A>G (p.His565Arg)
c.1751A>G (p.His584Arg)
c.1700A>G (p.His567Arg)
c.1805A>G (p.His602Arg)
c.1712A>G (p.His571Arg)
c.1811A>G (p.His604Arg)
c.1841A>G (p.His614Arg)
c.1832A>G (p.His611Arg)
c.1802A>G (p.His601Arg)
c.1745A>G (p.His582Arg)
c.1691A>G (p.His564Arg)
c.1484A>G (p.His495Arg)
c.1898A>G (p.His633Arg)
c.1892A>G (p.His631Arg)
c.1889A>G (p.His630Arg)
c.1949A>G (p.His650Arg)
c.1940A>G (p.His647Arg)
c.1859A>G (p.His620Arg)
c.1808A>G (p.His603Arg)
14g.33800097A>TCA389412414NPAS3c.1790A>T (p.His597Leu)
c.1799A>T (p.His600Leu)
c.1690A>T
c.793+2516A>T
c.1694A>T (p.His565Leu)
c.1751A>T (p.His584Leu)
c.1700A>T (p.His567Leu)
c.1805A>T (p.His602Leu)
c.1712A>T (p.His571Leu)
c.1811A>T (p.His604Leu)
c.1841A>T (p.His614Leu)
c.1832A>T (p.His611Leu)
c.1802A>T (p.His601Leu)
c.1745A>T (p.His582Leu)
c.1691A>T (p.His564Leu)
c.1484A>T (p.His495Leu)
c.1898A>T (p.His633Leu)
c.1892A>T (p.His631Leu)
c.1889A>T (p.His630Leu)
c.1949A>T (p.His650Leu)
c.1940A>T (p.His647Leu)
c.1859A>T (p.His620Leu)
c.1808A>T (p.His603Leu)
14g.33800098C>ACA389412417NPAS3c.1791C>A (p.His597Gln)
c.1800C>A (p.His600Gln)
c.1691C>A
c.793+2517C>A
c.1695C>A (p.His565Gln)
c.1752C>A (p.His584Gln)
c.1701C>A (p.His567Gln)
c.1806C>A (p.His602Gln)
c.1713C>A (p.His571Gln)
c.1812C>A (p.His604Gln)
c.1842C>A (p.His614Gln)
c.1833C>A (p.His611Gln)
c.1803C>A (p.His601Gln)
c.1746C>A (p.His582Gln)
c.1692C>A (p.His564Gln)
c.1485C>A (p.His495Gln)
c.1899C>A (p.His633Gln)
c.1893C>A (p.His631Gln)
c.1890C>A (p.His630Gln)
c.1950C>A (p.His650Gln)
c.1941C>A (p.His647Gln)
c.1860C>A (p.His620Gln)
c.1809C>A (p.His603Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.33800098C=CA2128326869NPAS3c.1791C= (p.His597=)
c.1800C= (p.His600=)
c.1691C=
c.793+2517C=
c.1695C= (p.His565=)
c.1752C= (p.His584=)
c.1701C= (p.His567=)
c.1806C= (p.His602=)
c.1713C= (p.His571=)
c.1812C= (p.His604=)
c.1842C= (p.His614=)
c.1833C= (p.His611=)
c.1803C= (p.His601=)
c.1746C= (p.His582=)
c.1692C= (p.His564=)
c.1485C= (p.His495=)
c.1899C= (p.His633=)
c.1893C= (p.His631=)
c.1890C= (p.His630=)
c.1950C= (p.His650=)
c.1941C= (p.His647=)
c.1860C= (p.His620=)
c.1809C= (p.His603=)
14g.33800098C>GCA389412420NPAS3c.1791C>G (p.His597Gln)
c.1800C>G (p.His600Gln)
c.1691C>G
c.793+2517C>G
c.1695C>G (p.His565Gln)
c.1752C>G (p.His584Gln)
c.1701C>G (p.His567Gln)
c.1806C>G (p.His602Gln)
c.1713C>G (p.His571Gln)
c.1812C>G (p.His604Gln)
c.1842C>G (p.His614Gln)
c.1833C>G (p.His611Gln)
c.1803C>G (p.His601Gln)
c.1746C>G (p.His582Gln)
c.1692C>G (p.His564Gln)
c.1485C>G (p.His495Gln)
c.1899C>G (p.His633Gln)
c.1893C>G (p.His631Gln)
c.1890C>G (p.His630Gln)
c.1950C>G (p.His650Gln)
c.1941C>G (p.His647Gln)
c.1860C>G (p.His620Gln)
c.1809C>G (p.His603Gln)
14g.33800098C>TCA7150879NPAS3c.1791C>T (p.His597=)
c.1800C>T (p.His600=)
c.1691C>T
c.793+2517C>T
c.1695C>T (p.His565=)
c.1752C>T (p.His584=)
c.1701C>T (p.His567=)
c.1806C>T (p.His602=)
c.1713C>T (p.His571=)
c.1812C>T (p.His604=)
c.1842C>T (p.His614=)
c.1833C>T (p.His611=)
c.1803C>T (p.His601=)
c.1746C>T (p.His582=)
c.1692C>T (p.His564=)
c.1485C>T (p.His495=)
c.1899C>T (p.His633=)
c.1893C>T (p.His631=)
c.1890C>T (p.His630=)
c.1950C>T (p.His650=)
c.1941C>T (p.His647=)
c.1860C>T (p.His620=)
c.1809C>T (p.His603=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800099C>ACA389412426NPAS3c.1792C>A (p.Gln598Lys)
c.1801C>A (p.Gln601Lys)
c.1692C>A
c.793+2518C>A
c.1696C>A (p.Gln566Lys)
c.1753C>A (p.Gln585Lys)
c.1702C>A (p.Gln568Lys)
c.1807C>A (p.Gln603Lys)
c.1714C>A (p.Gln572Lys)
c.1813C>A (p.Gln605Lys)
c.1843C>A (p.Gln615Lys)
c.1834C>A (p.Gln612Lys)
c.1804C>A (p.Gln602Lys)
c.1747C>A (p.Gln583Lys)
c.1693C>A (p.Gln565Lys)
c.1486C>A (p.Gln496Lys)
c.1900C>A (p.Gln634Lys)
c.1894C>A (p.Gln632Lys)
c.1891C>A (p.Gln631Lys)
c.1951C>A (p.Gln651Lys)
c.1942C>A (p.Gln648Lys)
c.1861C>A (p.Gln621Lys)
c.1810C>A (p.Gln604Lys)
14g.33800099C>GCA389412429NPAS3c.1792C>G (p.Gln598Glu)
c.1801C>G (p.Gln601Glu)
c.1692C>G
c.793+2518C>G
c.1696C>G (p.Gln566Glu)
c.1753C>G (p.Gln585Glu)
c.1702C>G (p.Gln568Glu)
c.1807C>G (p.Gln603Glu)
c.1714C>G (p.Gln572Glu)
c.1813C>G (p.Gln605Glu)
c.1843C>G (p.Gln615Glu)
c.1834C>G (p.Gln612Glu)
c.1804C>G (p.Gln602Glu)
c.1747C>G (p.Gln583Glu)
c.1693C>G (p.Gln565Glu)
c.1486C>G (p.Gln496Glu)
c.1900C>G (p.Gln634Glu)
c.1894C>G (p.Gln632Glu)
c.1891C>G (p.Gln631Glu)
c.1951C>G (p.Gln651Glu)
c.1942C>G (p.Gln648Glu)
c.1861C>G (p.Gln621Glu)
c.1810C>G (p.Gln604Glu)
14g.33800099C>TCA389412430NPAS3c.1792C>T (p.Gln598Ter)
c.1801C>T (p.Gln601Ter)
c.1692C>T
c.793+2518C>T
c.1696C>T (p.Gln566Ter)
c.1753C>T (p.Gln585Ter)
c.1702C>T (p.Gln568Ter)
c.1807C>T (p.Gln603Ter)
c.1714C>T (p.Gln572Ter)
c.1813C>T (p.Gln605Ter)
c.1843C>T (p.Gln615Ter)
c.1834C>T (p.Gln612Ter)
c.1804C>T (p.Gln602Ter)
c.1747C>T (p.Gln583Ter)
c.1693C>T (p.Gln565Ter)
c.1486C>T (p.Gln496Ter)
c.1900C>T (p.Gln634Ter)
c.1894C>T (p.Gln632Ter)
c.1891C>T (p.Gln631Ter)
c.1951C>T (p.Gln651Ter)
c.1942C>T (p.Gln648Ter)
c.1861C>T (p.Gln621Ter)
c.1810C>T (p.Gln604Ter)
14g.33800100A>CCA389412439NPAS3c.1793A>C (p.Gln598Pro)
c.1802A>C (p.Gln601Pro)
c.1693A>C
c.793+2519A>C
c.1697A>C (p.Gln566Pro)
c.1754A>C (p.Gln585Pro)
c.1703A>C (p.Gln568Pro)
c.1808A>C (p.Gln603Pro)
c.1715A>C (p.Gln572Pro)
c.1814A>C (p.Gln605Pro)
c.1844A>C (p.Gln615Pro)
c.1835A>C (p.Gln612Pro)
c.1805A>C (p.Gln602Pro)
c.1748A>C (p.Gln583Pro)
c.1694A>C (p.Gln565Pro)
c.1487A>C (p.Gln496Pro)
c.1901A>C (p.Gln634Pro)
c.1895A>C (p.Gln632Pro)
c.1892A>C (p.Gln631Pro)
c.1952A>C (p.Gln651Pro)
c.1943A>C (p.Gln648Pro)
c.1862A>C (p.Gln621Pro)
c.1811A>C (p.Gln604Pro)
14g.33800100A>GCA389412444NPAS3c.1793A>G (p.Gln598Arg)
c.1802A>G (p.Gln601Arg)
c.1693A>G
c.793+2519A>G
c.1697A>G (p.Gln566Arg)
c.1754A>G (p.Gln585Arg)
c.1703A>G (p.Gln568Arg)
c.1808A>G (p.Gln603Arg)
c.1715A>G (p.Gln572Arg)
c.1814A>G (p.Gln605Arg)
c.1844A>G (p.Gln615Arg)
c.1835A>G (p.Gln612Arg)
c.1805A>G (p.Gln602Arg)
c.1748A>G (p.Gln583Arg)
c.1694A>G (p.Gln565Arg)
c.1487A>G (p.Gln496Arg)
c.1901A>G (p.Gln634Arg)
c.1895A>G (p.Gln632Arg)
c.1892A>G (p.Gln631Arg)
c.1952A>G (p.Gln651Arg)
c.1943A>G (p.Gln648Arg)
c.1862A>G (p.Gln621Arg)
c.1811A>G (p.Gln604Arg)
 gnomAD v4
14g.33800100A>TCA389412442NPAS3c.1793A>T (p.Gln598Leu)
c.1802A>T (p.Gln601Leu)
c.1693A>T
c.793+2519A>T
c.1697A>T (p.Gln566Leu)
c.1754A>T (p.Gln585Leu)
c.1703A>T (p.Gln568Leu)
c.1808A>T (p.Gln603Leu)
c.1715A>T (p.Gln572Leu)
c.1814A>T (p.Gln605Leu)
c.1844A>T (p.Gln615Leu)
c.1835A>T (p.Gln612Leu)
c.1805A>T (p.Gln602Leu)
c.1748A>T (p.Gln583Leu)
c.1694A>T (p.Gln565Leu)
c.1487A>T (p.Gln496Leu)
c.1901A>T (p.Gln634Leu)
c.1895A>T (p.Gln632Leu)
c.1892A>T (p.Gln631Leu)
c.1952A>T (p.Gln651Leu)
c.1943A>T (p.Gln648Leu)
c.1862A>T (p.Gln621Leu)
c.1811A>T (p.Gln604Leu)
14g.33800101G>ACA486092771NPAS3c.1794G>A (p.Gln598=)
c.1803G>A (p.Gln601=)
c.1694G>A
c.793+2520G>A
c.1698G>A (p.Gln566=)
c.1755G>A (p.Gln585=)
c.1704G>A (p.Gln568=)
c.1809G>A (p.Gln603=)
c.1716G>A (p.Gln572=)
c.1815G>A (p.Gln605=)
c.1845G>A (p.Gln615=)
c.1836G>A (p.Gln612=)
c.1806G>A (p.Gln602=)
c.1749G>A (p.Gln583=)
c.1695G>A (p.Gln565=)
c.1488G>A (p.Gln496=)
c.1902G>A (p.Gln634=)
c.1896G>A (p.Gln632=)
c.1893G>A (p.Gln631=)
c.1953G>A (p.Gln651=)
c.1944G>A (p.Gln648=)
c.1863G>A (p.Gln621=)
c.1812G>A (p.Gln604=)
14g.33800101G>CCA389412447NPAS3c.1794G>C (p.Gln598His)
c.1803G>C (p.Gln601His)
c.1694G>C
c.793+2520G>C
c.1698G>C (p.Gln566His)
c.1755G>C (p.Gln585His)
c.1704G>C (p.Gln568His)
c.1809G>C (p.Gln603His)
c.1716G>C (p.Gln572His)
c.1815G>C (p.Gln605His)
c.1845G>C (p.Gln615His)
c.1836G>C (p.Gln612His)
c.1806G>C (p.Gln602His)
c.1749G>C (p.Gln583His)
c.1695G>C (p.Gln565His)
c.1488G>C (p.Gln496His)
c.1902G>C (p.Gln634His)
c.1896G>C (p.Gln632His)
c.1893G>C (p.Gln631His)
c.1953G>C (p.Gln651His)
c.1944G>C (p.Gln648His)
c.1863G>C (p.Gln621His)
c.1812G>C (p.Gln604His)
14g.33800101G>TCA389412449NPAS3c.1794G>T (p.Gln598His)
c.1803G>T (p.Gln601His)
c.1694G>T
c.793+2520G>T
c.1698G>T (p.Gln566His)
c.1755G>T (p.Gln585His)
c.1704G>T (p.Gln568His)
c.1809G>T (p.Gln603His)
c.1716G>T (p.Gln572His)
c.1815G>T (p.Gln605His)
c.1845G>T (p.Gln615His)
c.1836G>T (p.Gln612His)
c.1806G>T (p.Gln602His)
c.1749G>T (p.Gln583His)
c.1695G>T (p.Gln565His)
c.1488G>T (p.Gln496His)
c.1902G>T (p.Gln634His)
c.1896G>T (p.Gln632His)
c.1893G>T (p.Gln631His)
c.1953G>T (p.Gln651His)
c.1944G>T (p.Gln648His)
c.1863G>T (p.Gln621His)
c.1812G>T (p.Gln604His)
14g.33800102A>CCA389412453NPAS3c.1795A>C (p.Lys599Gln)
c.1804A>C (p.Lys602Gln)
c.1695A>C
c.793+2521A>C
c.1699A>C (p.Lys567Gln)
c.1756A>C (p.Lys586Gln)
c.1705A>C (p.Lys569Gln)
c.1810A>C (p.Lys604Gln)
c.1717A>C (p.Lys573Gln)
c.1816A>C (p.Lys606Gln)
c.1846A>C (p.Lys616Gln)
c.1837A>C (p.Lys613Gln)
c.1807A>C (p.Lys603Gln)
c.1750A>C (p.Lys584Gln)
c.1696A>C (p.Lys566Gln)
c.1489A>C (p.Lys497Gln)
c.1903A>C (p.Lys635Gln)
c.1897A>C (p.Lys633Gln)
c.1894A>C (p.Lys632Gln)
c.1954A>C (p.Lys652Gln)
c.1945A>C (p.Lys649Gln)
c.1864A>C (p.Lys622Gln)
c.1813A>C (p.Lys605Gln)
14g.33800102A>GCA389412457NPAS3c.1795A>G (p.Lys599Glu)
c.1804A>G (p.Lys602Glu)
c.1695A>G
c.793+2521A>G
c.1699A>G (p.Lys567Glu)
c.1756A>G (p.Lys586Glu)
c.1705A>G (p.Lys569Glu)
c.1810A>G (p.Lys604Glu)
c.1717A>G (p.Lys573Glu)
c.1816A>G (p.Lys606Glu)
c.1846A>G (p.Lys616Glu)
c.1837A>G (p.Lys613Glu)
c.1807A>G (p.Lys603Glu)
c.1750A>G (p.Lys584Glu)
c.1696A>G (p.Lys566Glu)
c.1489A>G (p.Lys497Glu)
c.1903A>G (p.Lys635Glu)
c.1897A>G (p.Lys633Glu)
c.1894A>G (p.Lys632Glu)
c.1954A>G (p.Lys652Glu)
c.1945A>G (p.Lys649Glu)
c.1864A>G (p.Lys622Glu)
c.1813A>G (p.Lys605Glu)
14g.33800102A>TCA389412459NPAS3c.1795A>T (p.Lys599Ter)
c.1804A>T (p.Lys602Ter)
c.1695A>T
c.793+2521A>T
c.1699A>T (p.Lys567Ter)
c.1756A>T (p.Lys586Ter)
c.1705A>T (p.Lys569Ter)
c.1810A>T (p.Lys604Ter)
c.1717A>T (p.Lys573Ter)
c.1816A>T (p.Lys606Ter)
c.1846A>T (p.Lys616Ter)
c.1837A>T (p.Lys613Ter)
c.1807A>T (p.Lys603Ter)
c.1750A>T (p.Lys584Ter)
c.1696A>T (p.Lys566Ter)
c.1489A>T (p.Lys497Ter)
c.1903A>T (p.Lys635Ter)
c.1897A>T (p.Lys633Ter)
c.1894A>T (p.Lys632Ter)
c.1954A>T (p.Lys652Ter)
c.1945A>T (p.Lys649Ter)
c.1864A>T (p.Lys622Ter)
c.1813A>T (p.Lys605Ter)
14g.33800103A>CCA389412462NPAS3c.1796A>C (p.Lys599Thr)
c.1805A>C (p.Lys602Thr)
c.1696A>C
c.793+2522A>C
c.1700A>C (p.Lys567Thr)
c.1757A>C (p.Lys586Thr)
c.1706A>C (p.Lys569Thr)
c.1811A>C (p.Lys604Thr)
c.1718A>C (p.Lys573Thr)
c.1817A>C (p.Lys606Thr)
c.1847A>C (p.Lys616Thr)
c.1838A>C (p.Lys613Thr)
c.1808A>C (p.Lys603Thr)
c.1751A>C (p.Lys584Thr)
c.1697A>C (p.Lys566Thr)
c.1490A>C (p.Lys497Thr)
c.1904A>C (p.Lys635Thr)
c.1898A>C (p.Lys633Thr)
c.1895A>C (p.Lys632Thr)
c.1955A>C (p.Lys652Thr)
c.1946A>C (p.Lys649Thr)
c.1865A>C (p.Lys622Thr)
c.1814A>C (p.Lys605Thr)
14g.33800103A>GCA389412464NPAS3c.1796A>G (p.Lys599Arg)
c.1805A>G (p.Lys602Arg)
c.1696A>G
c.793+2522A>G
c.1700A>G (p.Lys567Arg)
c.1757A>G (p.Lys586Arg)
c.1706A>G (p.Lys569Arg)
c.1811A>G (p.Lys604Arg)
c.1718A>G (p.Lys573Arg)
c.1817A>G (p.Lys606Arg)
c.1847A>G (p.Lys616Arg)
c.1838A>G (p.Lys613Arg)
c.1808A>G (p.Lys603Arg)
c.1751A>G (p.Lys584Arg)
c.1697A>G (p.Lys566Arg)
c.1490A>G (p.Lys497Arg)
c.1904A>G (p.Lys635Arg)
c.1898A>G (p.Lys633Arg)
c.1895A>G (p.Lys632Arg)
c.1955A>G (p.Lys652Arg)
c.1946A>G (p.Lys649Arg)
c.1865A>G (p.Lys622Arg)
c.1814A>G (p.Lys605Arg)
14g.33800103A>TCA389412467NPAS3c.1796A>T (p.Lys599Met)
c.1805A>T (p.Lys602Met)
c.1696A>T
c.793+2522A>T
c.1700A>T (p.Lys567Met)
c.1757A>T (p.Lys586Met)
c.1706A>T (p.Lys569Met)
c.1811A>T (p.Lys604Met)
c.1718A>T (p.Lys573Met)
c.1817A>T (p.Lys606Met)
c.1847A>T (p.Lys616Met)
c.1838A>T (p.Lys613Met)
c.1808A>T (p.Lys603Met)
c.1751A>T (p.Lys584Met)
c.1697A>T (p.Lys566Met)
c.1490A>T (p.Lys497Met)
c.1904A>T (p.Lys635Met)
c.1898A>T (p.Lys633Met)
c.1895A>T (p.Lys632Met)
c.1955A>T (p.Lys652Met)
c.1946A>T (p.Lys649Met)
c.1865A>T (p.Lys622Met)
c.1814A>T (p.Lys605Met)
 gnomAD v4
14g.33800104G>ACA486092773NPAS3c.1797G>A (p.Lys599=)
c.1806G>A (p.Lys602=)
c.1697G>A
c.793+2523G>A
c.1701G>A (p.Lys567=)
c.1758G>A (p.Lys586=)
c.1707G>A (p.Lys569=)
c.1812G>A (p.Lys604=)
c.1719G>A (p.Lys573=)
c.1818G>A (p.Lys606=)
c.1848G>A (p.Lys616=)
c.1839G>A (p.Lys613=)
c.1809G>A (p.Lys603=)
c.1752G>A (p.Lys584=)
c.1698G>A (p.Lys566=)
c.1491G>A (p.Lys497=)
c.1905G>A (p.Lys635=)
c.1899G>A (p.Lys633=)
c.1896G>A (p.Lys632=)
c.1956G>A (p.Lys652=)
c.1947G>A (p.Lys649=)
c.1866G>A (p.Lys622=)
c.1815G>A (p.Lys605=)
14g.33800104G>CCA389412471NPAS3c.1797G>C (p.Lys599Asn)
c.1806G>C (p.Lys602Asn)
c.1697G>C
c.793+2523G>C
c.1701G>C (p.Lys567Asn)
c.1758G>C (p.Lys586Asn)
c.1707G>C (p.Lys569Asn)
c.1812G>C (p.Lys604Asn)
c.1719G>C (p.Lys573Asn)
c.1818G>C (p.Lys606Asn)
c.1848G>C (p.Lys616Asn)
c.1839G>C (p.Lys613Asn)
c.1809G>C (p.Lys603Asn)
c.1752G>C (p.Lys584Asn)
c.1698G>C (p.Lys566Asn)
c.1491G>C (p.Lys497Asn)
c.1905G>C (p.Lys635Asn)
c.1899G>C (p.Lys633Asn)
c.1896G>C (p.Lys632Asn)
c.1956G>C (p.Lys652Asn)
c.1947G>C (p.Lys649Asn)
c.1866G>C (p.Lys622Asn)
c.1815G>C (p.Lys605Asn)
14g.33800104G>TCA389412473NPAS3c.1797G>T (p.Lys599Asn)
c.1806G>T (p.Lys602Asn)
c.1697G>T
c.793+2523G>T
c.1701G>T (p.Lys567Asn)
c.1758G>T (p.Lys586Asn)
c.1707G>T (p.Lys569Asn)
c.1812G>T (p.Lys604Asn)
c.1719G>T (p.Lys573Asn)
c.1818G>T (p.Lys606Asn)
c.1848G>T (p.Lys616Asn)
c.1839G>T (p.Lys613Asn)
c.1809G>T (p.Lys603Asn)
c.1752G>T (p.Lys584Asn)
c.1698G>T (p.Lys566Asn)
c.1491G>T (p.Lys497Asn)
c.1905G>T (p.Lys635Asn)
c.1899G>T (p.Lys633Asn)
c.1896G>T (p.Lys632Asn)
c.1956G>T (p.Lys652Asn)
c.1947G>T (p.Lys649Asn)
c.1866G>T (p.Lys622Asn)
c.1815G>T (p.Lys605Asn)
14g.33800105C>ACA389412478NPAS3c.1798C>A (p.Arg600Ser)
c.1807C>A (p.Arg603Ser)
c.1698C>A
c.793+2524C>A
c.1702C>A (p.Arg568Ser)
c.1759C>A (p.Arg587Ser)
c.1708C>A (p.Arg570Ser)
c.1813C>A (p.Arg605Ser)
c.1720C>A (p.Arg574Ser)
c.1819C>A (p.Arg607Ser)
c.1849C>A (p.Arg617Ser)
c.1840C>A (p.Arg614Ser)
c.1810C>A (p.Arg604Ser)
c.1753C>A (p.Arg585Ser)
c.1699C>A (p.Arg567Ser)
c.1492C>A (p.Arg498Ser)
c.1906C>A (p.Arg636Ser)
c.1900C>A (p.Arg634Ser)
c.1897C>A (p.Arg633Ser)
c.1957C>A (p.Arg653Ser)
c.1948C>A (p.Arg650Ser)
c.1867C>A (p.Arg623Ser)
c.1816C>A (p.Arg606Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.33800105C=CA2128326872NPAS3c.1798C= (p.Arg600=)
c.1807C= (p.Arg603=)
c.1698C=
c.793+2524C=
c.1702C= (p.Arg568=)
c.1759C= (p.Arg587=)
c.1708C= (p.Arg570=)
c.1813C= (p.Arg605=)
c.1720C= (p.Arg574=)
c.1819C= (p.Arg607=)
c.1849C= (p.Arg617=)
c.1840C= (p.Arg614=)
c.1810C= (p.Arg604=)
c.1753C= (p.Arg585=)
c.1699C= (p.Arg567=)
c.1492C= (p.Arg498=)
c.1906C= (p.Arg636=)
c.1900C= (p.Arg634=)
c.1897C= (p.Arg633=)
c.1957C= (p.Arg653=)
c.1948C= (p.Arg650=)
c.1867C= (p.Arg623=)
c.1816C= (p.Arg606=)
14g.33800105C>GCA389412481NPAS3c.1798C>G (p.Arg600Gly)
c.1807C>G (p.Arg603Gly)
c.1698C>G
c.793+2524C>G
c.1702C>G (p.Arg568Gly)
c.1759C>G (p.Arg587Gly)
c.1708C>G (p.Arg570Gly)
c.1813C>G (p.Arg605Gly)
c.1720C>G (p.Arg574Gly)
c.1819C>G (p.Arg607Gly)
c.1849C>G (p.Arg617Gly)
c.1840C>G (p.Arg614Gly)
c.1810C>G (p.Arg604Gly)
c.1753C>G (p.Arg585Gly)
c.1699C>G (p.Arg567Gly)
c.1492C>G (p.Arg498Gly)
c.1906C>G (p.Arg636Gly)
c.1900C>G (p.Arg634Gly)
c.1897C>G (p.Arg633Gly)
c.1957C>G (p.Arg653Gly)
c.1948C>G (p.Arg650Gly)
c.1867C>G (p.Arg623Gly)
c.1816C>G (p.Arg606Gly)
 dbSNP gnomAD v4
14g.33800105C>TCA389412476NPAS3c.1798C>T (p.Arg600Cys)
c.1807C>T (p.Arg603Cys)
c.1698C>T
c.793+2524C>T
c.1702C>T (p.Arg568Cys)
c.1759C>T (p.Arg587Cys)
c.1708C>T (p.Arg570Cys)
c.1813C>T (p.Arg605Cys)
c.1720C>T (p.Arg574Cys)
c.1819C>T (p.Arg607Cys)
c.1849C>T (p.Arg617Cys)
c.1840C>T (p.Arg614Cys)
c.1810C>T (p.Arg604Cys)
c.1753C>T (p.Arg585Cys)
c.1699C>T (p.Arg567Cys)
c.1492C>T (p.Arg498Cys)
c.1906C>T (p.Arg636Cys)
c.1900C>T (p.Arg634Cys)
c.1897C>T (p.Arg633Cys)
c.1957C>T (p.Arg653Cys)
c.1948C>T (p.Arg650Cys)
c.1867C>T (p.Arg623Cys)
c.1816C>T (p.Arg606Cys)
 gnomAD v4
14g.33800106G>ACA389412484NPAS3c.1799G>A (p.Arg600His)
c.1808G>A (p.Arg603His)
c.1699G>A
c.793+2525G>A
c.1703G>A (p.Arg568His)
c.1760G>A (p.Arg587His)
c.1709G>A (p.Arg570His)
c.1814G>A (p.Arg605His)
c.1721G>A (p.Arg574His)
c.1820G>A (p.Arg607His)
c.1850G>A (p.Arg617His)
c.1841G>A (p.Arg614His)
c.1811G>A (p.Arg604His)
c.1754G>A (p.Arg585His)
c.1700G>A (p.Arg567His)
c.1493G>A (p.Arg498His)
c.1907G>A (p.Arg636His)
c.1901G>A (p.Arg634His)
c.1898G>A (p.Arg633His)
c.1958G>A (p.Arg653His)
c.1949G>A (p.Arg650His)
c.1868G>A (p.Arg623His)
c.1817G>A (p.Arg606His)
 dbSNP gnomAD v2 gnomAD v4
14g.33800106G>CCA389412487NPAS3c.1799G>C (p.Arg600Pro)
c.1808G>C (p.Arg603Pro)
c.1699G>C
c.793+2525G>C
c.1703G>C (p.Arg568Pro)
c.1760G>C (p.Arg587Pro)
c.1709G>C (p.Arg570Pro)
c.1814G>C (p.Arg605Pro)
c.1721G>C (p.Arg574Pro)
c.1820G>C (p.Arg607Pro)
c.1850G>C (p.Arg617Pro)
c.1841G>C (p.Arg614Pro)
c.1811G>C (p.Arg604Pro)
c.1754G>C (p.Arg585Pro)
c.1700G>C (p.Arg567Pro)
c.1493G>C (p.Arg498Pro)
c.1907G>C (p.Arg636Pro)
c.1901G>C (p.Arg634Pro)
c.1898G>C (p.Arg633Pro)
c.1958G>C (p.Arg653Pro)
c.1949G>C (p.Arg650Pro)
c.1868G>C (p.Arg623Pro)
c.1817G>C (p.Arg606Pro)
 dbSNP gnomAD v3 gnomAD v4
14g.33800106G=CA2128326874NPAS3c.1799G= (p.Arg600=)
c.1808G= (p.Arg603=)
c.1699G=
c.793+2525G=
c.1703G= (p.Arg568=)
c.1760G= (p.Arg587=)
c.1709G= (p.Arg570=)
c.1814G= (p.Arg605=)
c.1721G= (p.Arg574=)
c.1820G= (p.Arg607=)
c.1850G= (p.Arg617=)
c.1841G= (p.Arg614=)
c.1811G= (p.Arg604=)
c.1754G= (p.Arg585=)
c.1700G= (p.Arg567=)
c.1493G= (p.Arg498=)
c.1907G= (p.Arg636=)
c.1901G= (p.Arg634=)
c.1898G= (p.Arg633=)
c.1958G= (p.Arg653=)
c.1949G= (p.Arg650=)
c.1868G= (p.Arg623=)
c.1817G= (p.Arg606=)
14g.33800106G>TCA389412491NPAS3c.1799G>T (p.Arg600Leu)
c.1808G>T (p.Arg603Leu)
c.1699G>T
c.793+2525G>T
c.1703G>T (p.Arg568Leu)
c.1760G>T (p.Arg587Leu)
c.1709G>T (p.Arg570Leu)
c.1814G>T (p.Arg605Leu)
c.1721G>T (p.Arg574Leu)
c.1820G>T (p.Arg607Leu)
c.1850G>T (p.Arg617Leu)
c.1841G>T (p.Arg614Leu)
c.1811G>T (p.Arg604Leu)
c.1754G>T (p.Arg585Leu)
c.1700G>T (p.Arg567Leu)
c.1493G>T (p.Arg498Leu)
c.1907G>T (p.Arg636Leu)
c.1901G>T (p.Arg634Leu)
c.1898G>T (p.Arg633Leu)
c.1958G>T (p.Arg653Leu)
c.1949G>T (p.Arg650Leu)
c.1868G>T (p.Arg623Leu)
c.1817G>T (p.Arg606Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800107C>ACA486092776NPAS3c.1800C>A (p.Arg600=)
c.1809C>A (p.Arg603=)
c.1700C>A
c.793+2526C>A
c.1704C>A (p.Arg568=)
c.1761C>A (p.Arg587=)
c.1710C>A (p.Arg570=)
c.1815C>A (p.Arg605=)
c.1722C>A (p.Arg574=)
c.1821C>A (p.Arg607=)
c.1851C>A (p.Arg617=)
c.1842C>A (p.Arg614=)
c.1812C>A (p.Arg604=)
c.1755C>A (p.Arg585=)
c.1701C>A (p.Arg567=)
c.1494C>A (p.Arg498=)
c.1908C>A (p.Arg636=)
c.1902C>A (p.Arg634=)
c.1899C>A (p.Arg633=)
c.1959C>A (p.Arg653=)
c.1950C>A (p.Arg650=)
c.1869C>A (p.Arg623=)
c.1818C>A (p.Arg606=)
14g.33800107C>GCA486092778NPAS3c.1800C>G (p.Arg600=)
c.1809C>G (p.Arg603=)
c.1700C>G
c.793+2526C>G
c.1704C>G (p.Arg568=)
c.1761C>G (p.Arg587=)
c.1710C>G (p.Arg570=)
c.1815C>G (p.Arg605=)
c.1722C>G (p.Arg574=)
c.1821C>G (p.Arg607=)
c.1851C>G (p.Arg617=)
c.1842C>G (p.Arg614=)
c.1812C>G (p.Arg604=)
c.1755C>G (p.Arg585=)
c.1701C>G (p.Arg567=)
c.1494C>G (p.Arg498=)
c.1908C>G (p.Arg636=)
c.1902C>G (p.Arg634=)
c.1899C>G (p.Arg633=)
c.1959C>G (p.Arg653=)
c.1950C>G (p.Arg650=)
c.1869C>G (p.Arg623=)
c.1818C>G (p.Arg606=)
14g.33800107C>TCA486092779NPAS3c.1800C>T (p.Arg600=)
c.1809C>T (p.Arg603=)
c.1700C>T
c.793+2526C>T
c.1704C>T (p.Arg568=)
c.1761C>T (p.Arg587=)
c.1710C>T (p.Arg570=)
c.1815C>T (p.Arg605=)
c.1722C>T (p.Arg574=)
c.1821C>T (p.Arg607=)
c.1851C>T (p.Arg617=)
c.1842C>T (p.Arg614=)
c.1812C>T (p.Arg604=)
c.1755C>T (p.Arg585=)
c.1701C>T (p.Arg567=)
c.1494C>T (p.Arg498=)
c.1908C>T (p.Arg636=)
c.1902C>T (p.Arg634=)
c.1899C>T (p.Arg633=)
c.1959C>T (p.Arg653=)
c.1950C>T (p.Arg650=)
c.1869C>T (p.Arg623=)
c.1818C>T (p.Arg606=)
14g.33800108A>CCA389412494NPAS3c.1801A>C (p.Lys601Gln)
c.1810A>C (p.Lys604Gln)
c.1701A>C
c.793+2527A>C
c.1705A>C (p.Lys569Gln)
c.1762A>C (p.Lys588Gln)
c.1711A>C (p.Lys571Gln)
c.1816A>C (p.Lys606Gln)
c.1723A>C (p.Lys575Gln)
c.1822A>C (p.Lys608Gln)
c.1852A>C (p.Lys618Gln)
c.1843A>C (p.Lys615Gln)
c.1813A>C (p.Lys605Gln)
c.1756A>C (p.Lys586Gln)
c.1702A>C (p.Lys568Gln)
c.1495A>C (p.Lys499Gln)
c.1909A>C (p.Lys637Gln)
c.1903A>C (p.Lys635Gln)
c.1900A>C (p.Lys634Gln)
c.1960A>C (p.Lys654Gln)
c.1951A>C (p.Lys651Gln)
c.1870A>C (p.Lys624Gln)
c.1819A>C (p.Lys607Gln)
14g.33800108A>GCA389412498NPAS3c.1801A>G (p.Lys601Glu)
c.1810A>G (p.Lys604Glu)
c.1701A>G
c.793+2527A>G
c.1705A>G (p.Lys569Glu)
c.1762A>G (p.Lys588Glu)
c.1711A>G (p.Lys571Glu)
c.1816A>G (p.Lys606Glu)
c.1723A>G (p.Lys575Glu)
c.1822A>G (p.Lys608Glu)
c.1852A>G (p.Lys618Glu)
c.1843A>G (p.Lys615Glu)
c.1813A>G (p.Lys605Glu)
c.1756A>G (p.Lys586Glu)
c.1702A>G (p.Lys568Glu)
c.1495A>G (p.Lys499Glu)
c.1909A>G (p.Lys637Glu)
c.1903A>G (p.Lys635Glu)
c.1900A>G (p.Lys634Glu)
c.1960A>G (p.Lys654Glu)
c.1951A>G (p.Lys651Glu)
c.1870A>G (p.Lys624Glu)
c.1819A>G (p.Lys607Glu)
14g.33800108A>TCA389412500NPAS3c.1801A>T (p.Lys601Ter)
c.1810A>T (p.Lys604Ter)
c.1701A>T
c.793+2527A>T
c.1705A>T (p.Lys569Ter)
c.1762A>T (p.Lys588Ter)
c.1711A>T (p.Lys571Ter)
c.1816A>T (p.Lys606Ter)
c.1723A>T (p.Lys575Ter)
c.1822A>T (p.Lys608Ter)
c.1852A>T (p.Lys618Ter)
c.1843A>T (p.Lys615Ter)
c.1813A>T (p.Lys605Ter)
c.1756A>T (p.Lys586Ter)
c.1702A>T (p.Lys568Ter)
c.1495A>T (p.Lys499Ter)
c.1909A>T (p.Lys637Ter)
c.1903A>T (p.Lys635Ter)
c.1900A>T (p.Lys634Ter)
c.1960A>T (p.Lys654Ter)
c.1951A>T (p.Lys651Ter)
c.1870A>T (p.Lys624Ter)
c.1819A>T (p.Lys607Ter)
14g.33800109A>CCA389412503NPAS3c.1802A>C (p.Lys601Thr)
c.1811A>C (p.Lys604Thr)
c.1702A>C
c.793+2528A>C
c.1706A>C (p.Lys569Thr)
c.1763A>C (p.Lys588Thr)
c.1712A>C (p.Lys571Thr)
c.1817A>C (p.Lys606Thr)
c.1724A>C (p.Lys575Thr)
c.1823A>C (p.Lys608Thr)
c.1853A>C (p.Lys618Thr)
c.1844A>C (p.Lys615Thr)
c.1814A>C (p.Lys605Thr)
c.1757A>C (p.Lys586Thr)
c.1703A>C (p.Lys568Thr)
c.1496A>C (p.Lys499Thr)
c.1910A>C (p.Lys637Thr)
c.1904A>C (p.Lys635Thr)
c.1901A>C (p.Lys634Thr)
c.1961A>C (p.Lys654Thr)
c.1952A>C (p.Lys651Thr)
c.1871A>C (p.Lys624Thr)
c.1820A>C (p.Lys607Thr)
14g.33800109A>GCA389412507NPAS3c.1802A>G (p.Lys601Arg)
c.1811A>G (p.Lys604Arg)
c.1702A>G
c.793+2528A>G
c.1706A>G (p.Lys569Arg)
c.1763A>G (p.Lys588Arg)
c.1712A>G (p.Lys571Arg)
c.1817A>G (p.Lys606Arg)
c.1724A>G (p.Lys575Arg)
c.1823A>G (p.Lys608Arg)
c.1853A>G (p.Lys618Arg)
c.1844A>G (p.Lys615Arg)
c.1814A>G (p.Lys605Arg)
c.1757A>G (p.Lys586Arg)
c.1703A>G (p.Lys568Arg)
c.1496A>G (p.Lys499Arg)
c.1910A>G (p.Lys637Arg)
c.1904A>G (p.Lys635Arg)
c.1901A>G (p.Lys634Arg)
c.1961A>G (p.Lys654Arg)
c.1952A>G (p.Lys651Arg)
c.1871A>G (p.Lys624Arg)
c.1820A>G (p.Lys607Arg)
14g.33800109A>TCA389412510NPAS3c.1802A>T (p.Lys601Met)
c.1811A>T (p.Lys604Met)
c.1702A>T
c.793+2528A>T
c.1706A>T (p.Lys569Met)
c.1763A>T (p.Lys588Met)
c.1712A>T (p.Lys571Met)
c.1817A>T (p.Lys606Met)
c.1724A>T (p.Lys575Met)
c.1823A>T (p.Lys608Met)
c.1853A>T (p.Lys618Met)
c.1844A>T (p.Lys615Met)
c.1814A>T (p.Lys605Met)
c.1757A>T (p.Lys586Met)
c.1703A>T (p.Lys568Met)
c.1496A>T (p.Lys499Met)
c.1910A>T (p.Lys637Met)
c.1904A>T (p.Lys635Met)
c.1901A>T (p.Lys634Met)
c.1961A>T (p.Lys654Met)
c.1952A>T (p.Lys651Met)
c.1871A>T (p.Lys624Met)
c.1820A>T (p.Lys607Met)
14g.33800110G>ACA486092781NPAS3c.1803G>A (p.Lys601=)
c.1812G>A (p.Lys604=)
c.1703G>A
c.793+2529G>A
c.1707G>A (p.Lys569=)
c.1764G>A (p.Lys588=)
c.1713G>A (p.Lys571=)
c.1818G>A (p.Lys606=)
c.1725G>A (p.Lys575=)
c.1824G>A (p.Lys608=)
c.1854G>A (p.Lys618=)
c.1845G>A (p.Lys615=)
c.1815G>A (p.Lys605=)
c.1758G>A (p.Lys586=)
c.1704G>A (p.Lys568=)
c.1497G>A (p.Lys499=)
c.1911G>A (p.Lys637=)
c.1905G>A (p.Lys635=)
c.1902G>A (p.Lys634=)
c.1962G>A (p.Lys654=)
c.1953G>A (p.Lys651=)
c.1872G>A (p.Lys624=)
c.1821G>A (p.Lys607=)
 gnomAD v4
14g.33800110G>CCA389412512NPAS3c.1803G>C (p.Lys601Asn)
c.1812G>C (p.Lys604Asn)
c.1703G>C
c.793+2529G>C
c.1707G>C (p.Lys569Asn)
c.1764G>C (p.Lys588Asn)
c.1713G>C (p.Lys571Asn)
c.1818G>C (p.Lys606Asn)
c.1725G>C (p.Lys575Asn)
c.1824G>C (p.Lys608Asn)
c.1854G>C (p.Lys618Asn)
c.1845G>C (p.Lys615Asn)
c.1815G>C (p.Lys605Asn)
c.1758G>C (p.Lys586Asn)
c.1704G>C (p.Lys568Asn)
c.1497G>C (p.Lys499Asn)
c.1911G>C (p.Lys637Asn)
c.1905G>C (p.Lys635Asn)
c.1902G>C (p.Lys634Asn)
c.1962G>C (p.Lys654Asn)
c.1953G>C (p.Lys651Asn)
c.1872G>C (p.Lys624Asn)
c.1821G>C (p.Lys607Asn)
14g.33800110G>TCA389412514NPAS3c.1803G>T (p.Lys601Asn)
c.1812G>T (p.Lys604Asn)
c.1703G>T
c.793+2529G>T
c.1707G>T (p.Lys569Asn)
c.1764G>T (p.Lys588Asn)
c.1713G>T (p.Lys571Asn)
c.1818G>T (p.Lys606Asn)
c.1725G>T (p.Lys575Asn)
c.1824G>T (p.Lys608Asn)
c.1854G>T (p.Lys618Asn)
c.1845G>T (p.Lys615Asn)
c.1815G>T (p.Lys605Asn)
c.1758G>T (p.Lys586Asn)
c.1704G>T (p.Lys568Asn)
c.1497G>T (p.Lys499Asn)
c.1911G>T (p.Lys637Asn)
c.1905G>T (p.Lys635Asn)
c.1902G>T (p.Lys634Asn)
c.1962G>T (p.Lys654Asn)
c.1953G>T (p.Lys651Asn)
c.1872G>T (p.Lys624Asn)
c.1821G>T (p.Lys607Asn)
 gnomAD v4
14g.33800110_33800111delinsGACA2128326879NPAS3c.1803_1804delinsGA (p.Lys601=)
c.1812_1813delinsGA (p.Lys604=)
c.1703_1704delinsGA
c.793+2529_793+2530delinsGA
c.1707_1708delinsGA (p.Lys569=)
c.1764_1765delinsGA (p.Lys588=)
c.1713_1714delinsGA (p.Lys571=)
c.1818_1819delinsGA (p.Lys606=)
c.1725_1726delinsGA (p.Lys575=)
c.1824_1825delinsGA (p.Lys608=)
c.1854_1855delinsGA (p.Lys618=)
c.1845_1846delinsGA (p.Lys615=)
c.1815_1816delinsGA (p.Lys605=)
c.1758_1759delinsGA (p.Lys586=)
c.1704_1705delinsGA (p.Lys568=)
c.1497_1498delinsGA (p.Lys499=)
c.1911_1912delinsGA (p.Lys637=)
c.1905_1906delinsGA (p.Lys635=)
c.1902_1903delinsGA (p.Lys634=)
c.1962_1963delinsGA (p.Lys654=)
c.1953_1954delinsGA (p.Lys651=)
c.1872_1873delinsGA (p.Lys624=)
c.1821_1822delinsGA (p.Lys607=)
14g.33800111A>CCA389412521NPAS3c.1804A>C (p.Lys602Gln)
c.1813A>C (p.Lys605Gln)
c.1704A>C
c.793+2530A>C
c.1708A>C (p.Lys570Gln)
c.1765A>C (p.Lys589Gln)
c.1714A>C (p.Lys572Gln)
c.1819A>C (p.Lys607Gln)
c.1726A>C (p.Lys576Gln)
c.1825A>C (p.Lys609Gln)
c.1855A>C (p.Lys619Gln)
c.1846A>C (p.Lys616Gln)
c.1816A>C (p.Lys606Gln)
c.1759A>C (p.Lys587Gln)
c.1705A>C (p.Lys569Gln)
c.1498A>C (p.Lys500Gln)
c.1912A>C (p.Lys638Gln)
c.1906A>C (p.Lys636Gln)
c.1903A>C (p.Lys635Gln)
c.1963A>C (p.Lys655Gln)
c.1954A>C (p.Lys652Gln)
c.1873A>C (p.Lys625Gln)
c.1822A>C (p.Lys608Gln)
14g.33800111A>GCA389412525NPAS3c.1804A>G (p.Lys602Glu)
c.1813A>G (p.Lys605Glu)
c.1704A>G
c.793+2530A>G
c.1708A>G (p.Lys570Glu)
c.1765A>G (p.Lys589Glu)
c.1714A>G (p.Lys572Glu)
c.1819A>G (p.Lys607Glu)
c.1726A>G (p.Lys576Glu)
c.1825A>G (p.Lys609Glu)
c.1855A>G (p.Lys619Glu)
c.1846A>G (p.Lys616Glu)
c.1816A>G (p.Lys606Glu)
c.1759A>G (p.Lys587Glu)
c.1705A>G (p.Lys569Glu)
c.1498A>G (p.Lys500Glu)
c.1912A>G (p.Lys638Glu)
c.1906A>G (p.Lys636Glu)
c.1903A>G (p.Lys635Glu)
c.1963A>G (p.Lys655Glu)
c.1954A>G (p.Lys652Glu)
c.1873A>G (p.Lys625Glu)
c.1822A>G (p.Lys608Glu)
14g.33800111A>TCA389412518NPAS3c.1804A>T (p.Lys602Ter)
c.1813A>T (p.Lys605Ter)
c.1704A>T
c.793+2530A>T
c.1708A>T (p.Lys570Ter)
c.1765A>T (p.Lys589Ter)
c.1714A>T (p.Lys572Ter)
c.1819A>T (p.Lys607Ter)
c.1726A>T (p.Lys576Ter)
c.1825A>T (p.Lys609Ter)
c.1855A>T (p.Lys619Ter)
c.1846A>T (p.Lys616Ter)
c.1816A>T (p.Lys606Ter)
c.1759A>T (p.Lys587Ter)
c.1705A>T (p.Lys569Ter)
c.1498A>T (p.Lys500Ter)
c.1912A>T (p.Lys638Ter)
c.1906A>T (p.Lys636Ter)
c.1903A>T (p.Lys635Ter)
c.1963A>T (p.Lys655Ter)
c.1954A>T (p.Lys652Ter)
c.1873A>T (p.Lys625Ter)
c.1822A>T (p.Lys608Ter)
14g.33800114delCA613803860NPAS3c.1807del (p.Arg603GlyfsTer?)
c.1816del (p.Arg606GlyfsTer?)
c.1707del
c.793+2533del
c.1711del (p.Arg571GlyfsTer?)
c.1768del (p.Arg590GlyfsTer?)
c.1717del (p.Arg573GlyfsTer?)
c.1822del (p.Arg608GlyfsTer?)
c.1729del (p.Arg577GlyfsTer?)
c.1828del (p.Arg610GlyfsTer?)
c.1858del (p.Arg620GlyfsTer?)
c.1849del (p.Arg617GlyfsTer?)
c.1819del (p.Arg607GlyfsTer?)
c.1762del (p.Arg588GlyfsTer?)
c.1708del (p.Arg570GlyfsTer?)
c.1501del (p.Arg501GlyfsTer?)
c.1915del (p.Arg639GlyfsTer?)
c.1909del (p.Arg637GlyfsTer?)
c.1906del (p.Arg636GlyfsTer?)
c.1966del (p.Arg656GlyfsTer?)
c.1957del (p.Arg653GlyfsTer?)
c.1876del (p.Arg626GlyfsTer?)
c.1825del (p.Arg609GlyfsTer?)
 dbSNP gnomAD v2 gnomAD v4
14g.33800112A>CCA389412531NPAS3c.1805A>C (p.Lys602Thr)
c.1814A>C (p.Lys605Thr)
c.1705A>C
c.793+2531A>C
c.1709A>C (p.Lys570Thr)
c.1766A>C (p.Lys589Thr)
c.1715A>C (p.Lys572Thr)
c.1820A>C (p.Lys607Thr)
c.1727A>C (p.Lys576Thr)
c.1826A>C (p.Lys609Thr)
c.1856A>C (p.Lys619Thr)
c.1847A>C (p.Lys616Thr)
c.1817A>C (p.Lys606Thr)
c.1760A>C (p.Lys587Thr)
c.1706A>C (p.Lys569Thr)
c.1499A>C (p.Lys500Thr)
c.1913A>C (p.Lys638Thr)
c.1907A>C (p.Lys636Thr)
c.1904A>C (p.Lys635Thr)
c.1964A>C (p.Lys655Thr)
c.1955A>C (p.Lys652Thr)
c.1874A>C (p.Lys625Thr)
c.1823A>C (p.Lys608Thr)
14g.33800112A>GCA389412534NPAS3c.1805A>G (p.Lys602Arg)
c.1814A>G (p.Lys605Arg)
c.1705A>G
c.793+2531A>G
c.1709A>G (p.Lys570Arg)
c.1766A>G (p.Lys589Arg)
c.1715A>G (p.Lys572Arg)
c.1820A>G (p.Lys607Arg)
c.1727A>G (p.Lys576Arg)
c.1826A>G (p.Lys609Arg)
c.1856A>G (p.Lys619Arg)
c.1847A>G (p.Lys616Arg)
c.1817A>G (p.Lys606Arg)
c.1760A>G (p.Lys587Arg)
c.1706A>G (p.Lys569Arg)
c.1499A>G (p.Lys500Arg)
c.1913A>G (p.Lys638Arg)
c.1907A>G (p.Lys636Arg)
c.1904A>G (p.Lys635Arg)
c.1964A>G (p.Lys655Arg)
c.1955A>G (p.Lys652Arg)
c.1874A>G (p.Lys625Arg)
c.1823A>G (p.Lys608Arg)
14g.33800112A>TCA389412535NPAS3c.1805A>T (p.Lys602Ile)
c.1814A>T (p.Lys605Ile)
c.1705A>T
c.793+2531A>T
c.1709A>T (p.Lys570Ile)
c.1766A>T (p.Lys589Ile)
c.1715A>T (p.Lys572Ile)
c.1820A>T (p.Lys607Ile)
c.1727A>T (p.Lys576Ile)
c.1826A>T (p.Lys609Ile)
c.1856A>T (p.Lys619Ile)
c.1847A>T (p.Lys616Ile)
c.1817A>T (p.Lys606Ile)
c.1760A>T (p.Lys587Ile)
c.1706A>T (p.Lys569Ile)
c.1499A>T (p.Lys500Ile)
c.1913A>T (p.Lys638Ile)
c.1907A>T (p.Lys636Ile)
c.1904A>T (p.Lys635Ile)
c.1964A>T (p.Lys655Ile)
c.1955A>T (p.Lys652Ile)
c.1874A>T (p.Lys625Ile)
c.1823A>T (p.Lys608Ile)
14g.33800113A>CCA389412536NPAS3c.1806A>C (p.Lys602Asn)
c.1815A>C (p.Lys605Asn)
c.1706A>C
c.793+2532A>C
c.1710A>C (p.Lys570Asn)
c.1767A>C (p.Lys589Asn)
c.1716A>C (p.Lys572Asn)
c.1821A>C (p.Lys607Asn)
c.1728A>C (p.Lys576Asn)
c.1827A>C (p.Lys609Asn)
c.1857A>C (p.Lys619Asn)
c.1848A>C (p.Lys616Asn)
c.1818A>C (p.Lys606Asn)
c.1761A>C (p.Lys587Asn)
c.1707A>C (p.Lys569Asn)
c.1500A>C (p.Lys500Asn)
c.1914A>C (p.Lys638Asn)
c.1908A>C (p.Lys636Asn)
c.1905A>C (p.Lys635Asn)
c.1965A>C (p.Lys655Asn)
c.1956A>C (p.Lys652Asn)
c.1875A>C (p.Lys625Asn)
c.1824A>C (p.Lys608Asn)
14g.33800113A>GCA486092783NPAS3c.1806A>G (p.Lys602=)
c.1815A>G (p.Lys605=)
c.1706A>G
c.793+2532A>G
c.1710A>G (p.Lys570=)
c.1767A>G (p.Lys589=)
c.1716A>G (p.Lys572=)
c.1821A>G (p.Lys607=)
c.1728A>G (p.Lys576=)
c.1827A>G (p.Lys609=)
c.1857A>G (p.Lys619=)
c.1848A>G (p.Lys616=)
c.1818A>G (p.Lys606=)
c.1761A>G (p.Lys587=)
c.1707A>G (p.Lys569=)
c.1500A>G (p.Lys500=)
c.1914A>G (p.Lys638=)
c.1908A>G (p.Lys636=)
c.1905A>G (p.Lys635=)
c.1965A>G (p.Lys655=)
c.1956A>G (p.Lys652=)
c.1875A>G (p.Lys625=)
c.1824A>G (p.Lys608=)
14g.33800113A>TCA389412537NPAS3c.1806A>T (p.Lys602Asn)
c.1815A>T (p.Lys605Asn)
c.1706A>T
c.793+2532A>T
c.1710A>T (p.Lys570Asn)
c.1767A>T (p.Lys589Asn)
c.1716A>T (p.Lys572Asn)
c.1821A>T (p.Lys607Asn)
c.1728A>T (p.Lys576Asn)
c.1827A>T (p.Lys609Asn)
c.1857A>T (p.Lys619Asn)
c.1848A>T (p.Lys616Asn)
c.1818A>T (p.Lys606Asn)
c.1761A>T (p.Lys587Asn)
c.1707A>T (p.Lys569Asn)
c.1500A>T (p.Lys500Asn)
c.1914A>T (p.Lys638Asn)
c.1908A>T (p.Lys636Asn)
c.1905A>T (p.Lys635Asn)
c.1965A>T (p.Lys655Asn)
c.1956A>T (p.Lys652Asn)
c.1875A>T (p.Lys625Asn)
c.1824A>T (p.Lys608Asn)
14g.33800114A>CCA486092786NPAS3c.1807A>C (p.Arg603=)
c.1816A>C (p.Arg606=)
c.1707A>C
c.793+2533A>C
c.1711A>C (p.Arg571=)
c.1768A>C (p.Arg590=)
c.1717A>C (p.Arg573=)
c.1822A>C (p.Arg608=)
c.1729A>C (p.Arg577=)
c.1828A>C (p.Arg610=)
c.1858A>C (p.Arg620=)
c.1849A>C (p.Arg617=)
c.1819A>C (p.Arg607=)
c.1762A>C (p.Arg588=)
c.1708A>C (p.Arg570=)
c.1501A>C (p.Arg501=)
c.1915A>C (p.Arg639=)
c.1909A>C (p.Arg637=)
c.1906A>C (p.Arg636=)
c.1966A>C (p.Arg656=)
c.1957A>C (p.Arg653=)
c.1876A>C (p.Arg626=)
c.1825A>C (p.Arg609=)
14g.33800114A>GCA389412542NPAS3c.1807A>G (p.Arg603Gly)
c.1816A>G (p.Arg606Gly)
c.1707A>G
c.793+2533A>G
c.1711A>G (p.Arg571Gly)
c.1768A>G (p.Arg590Gly)
c.1717A>G (p.Arg573Gly)
c.1822A>G (p.Arg608Gly)
c.1729A>G (p.Arg577Gly)
c.1828A>G (p.Arg610Gly)
c.1858A>G (p.Arg620Gly)
c.1849A>G (p.Arg617Gly)
c.1819A>G (p.Arg607Gly)
c.1762A>G (p.Arg588Gly)
c.1708A>G (p.Arg570Gly)
c.1501A>G (p.Arg501Gly)
c.1915A>G (p.Arg639Gly)
c.1909A>G (p.Arg637Gly)
c.1906A>G (p.Arg636Gly)
c.1966A>G (p.Arg656Gly)
c.1957A>G (p.Arg653Gly)
c.1876A>G (p.Arg626Gly)
c.1825A>G (p.Arg609Gly)
14g.33800114A>TCA389412539NPAS3c.1807A>T (p.Arg603Trp)
c.1816A>T (p.Arg606Trp)
c.1707A>T
c.793+2533A>T
c.1711A>T (p.Arg571Trp)
c.1768A>T (p.Arg590Trp)
c.1717A>T (p.Arg573Trp)
c.1822A>T (p.Arg608Trp)
c.1729A>T (p.Arg577Trp)
c.1828A>T (p.Arg610Trp)
c.1858A>T (p.Arg620Trp)
c.1849A>T (p.Arg617Trp)
c.1819A>T (p.Arg607Trp)
c.1762A>T (p.Arg588Trp)
c.1708A>T (p.Arg570Trp)
c.1501A>T (p.Arg501Trp)
c.1915A>T (p.Arg639Trp)
c.1909A>T (p.Arg637Trp)
c.1906A>T (p.Arg636Trp)
c.1966A>T (p.Arg656Trp)
c.1957A>T (p.Arg653Trp)
c.1876A>T (p.Arg626Trp)
c.1825A>T (p.Arg609Trp)
14g.33800115G>ACA389412544NPAS3c.1808G>A (p.Arg603Lys)
c.1817G>A (p.Arg606Lys)
c.1708G>A
c.793+2534G>A
c.1712G>A (p.Arg571Lys)
c.1769G>A (p.Arg590Lys)
c.1718G>A (p.Arg573Lys)
c.1823G>A (p.Arg608Lys)
c.1730G>A (p.Arg577Lys)
c.1829G>A (p.Arg610Lys)
c.1859G>A (p.Arg620Lys)
c.1850G>A (p.Arg617Lys)
c.1820G>A (p.Arg607Lys)
c.1763G>A (p.Arg588Lys)
c.1709G>A (p.Arg570Lys)
c.1502G>A (p.Arg501Lys)
c.1916G>A (p.Arg639Lys)
c.1910G>A (p.Arg637Lys)
c.1907G>A (p.Arg636Lys)
c.1967G>A (p.Arg656Lys)
c.1958G>A (p.Arg653Lys)
c.1877G>A (p.Arg626Lys)
c.1826G>A (p.Arg609Lys)
 dbSNP gnomAD v4
14g.33800115G>CCA389412545NPAS3c.1808G>C (p.Arg603Thr)
c.1817G>C (p.Arg606Thr)
c.1708G>C
c.793+2534G>C
c.1712G>C (p.Arg571Thr)
c.1769G>C (p.Arg590Thr)
c.1718G>C (p.Arg573Thr)
c.1823G>C (p.Arg608Thr)
c.1730G>C (p.Arg577Thr)
c.1829G>C (p.Arg610Thr)
c.1859G>C (p.Arg620Thr)
c.1850G>C (p.Arg617Thr)
c.1820G>C (p.Arg607Thr)
c.1763G>C (p.Arg588Thr)
c.1709G>C (p.Arg570Thr)
c.1502G>C (p.Arg501Thr)
c.1916G>C (p.Arg639Thr)
c.1910G>C (p.Arg637Thr)
c.1907G>C (p.Arg636Thr)
c.1967G>C (p.Arg656Thr)
c.1958G>C (p.Arg653Thr)
c.1877G>C (p.Arg626Thr)
c.1826G>C (p.Arg609Thr)
14g.33800115G=CA2128326883NPAS3c.1808G= (p.Arg603=)
c.1817G= (p.Arg606=)
c.1708G=
c.793+2534G=
c.1712G= (p.Arg571=)
c.1769G= (p.Arg590=)
c.1718G= (p.Arg573=)
c.1823G= (p.Arg608=)
c.1730G= (p.Arg577=)
c.1829G= (p.Arg610=)
c.1859G= (p.Arg620=)
c.1850G= (p.Arg617=)
c.1820G= (p.Arg607=)
c.1763G= (p.Arg588=)
c.1709G= (p.Arg570=)
c.1502G= (p.Arg501=)
c.1916G= (p.Arg639=)
c.1910G= (p.Arg637=)
c.1907G= (p.Arg636=)
c.1967G= (p.Arg656=)
c.1958G= (p.Arg653=)
c.1877G= (p.Arg626=)
c.1826G= (p.Arg609=)
14g.33800115G>TCA389412546NPAS3c.1808G>T (p.Arg603Met)
c.1817G>T (p.Arg606Met)
c.1708G>T
c.793+2534G>T
c.1712G>T (p.Arg571Met)
c.1769G>T (p.Arg590Met)
c.1718G>T (p.Arg573Met)
c.1823G>T (p.Arg608Met)
c.1730G>T (p.Arg577Met)
c.1829G>T (p.Arg610Met)
c.1859G>T (p.Arg620Met)
c.1850G>T (p.Arg617Met)
c.1820G>T (p.Arg607Met)
c.1763G>T (p.Arg588Met)
c.1709G>T (p.Arg570Met)
c.1502G>T (p.Arg501Met)
c.1916G>T (p.Arg639Met)
c.1910G>T (p.Arg637Met)
c.1907G>T (p.Arg636Met)
c.1967G>T (p.Arg656Met)
c.1958G>T (p.Arg653Met)
c.1877G>T (p.Arg626Met)
c.1826G>T (p.Arg609Met)
14g.33800116G>ACA486092789NPAS3c.1809G>A (p.Arg603=)
c.1818G>A (p.Arg606=)
c.1709G>A
c.793+2535G>A
c.1713G>A (p.Arg571=)
c.1770G>A (p.Arg590=)
c.1719G>A (p.Arg573=)
c.1824G>A (p.Arg608=)
c.1731G>A (p.Arg577=)
c.1830G>A (p.Arg610=)
c.1860G>A (p.Arg620=)
c.1851G>A (p.Arg617=)
c.1821G>A (p.Arg607=)
c.1764G>A (p.Arg588=)
c.1710G>A (p.Arg570=)
c.1503G>A (p.Arg501=)
c.1917G>A (p.Arg639=)
c.1911G>A (p.Arg637=)
c.1908G>A (p.Arg636=)
c.1968G>A (p.Arg656=)
c.1959G>A (p.Arg653=)
c.1878G>A (p.Arg626=)
c.1827G>A (p.Arg609=)
 dbSNP gnomAD v2
14g.33800116G>CCA389412548NPAS3c.1809G>C (p.Arg603Ser)
c.1818G>C (p.Arg606Ser)
c.1709G>C
c.793+2535G>C
c.1713G>C (p.Arg571Ser)
c.1770G>C (p.Arg590Ser)
c.1719G>C (p.Arg573Ser)
c.1824G>C (p.Arg608Ser)
c.1731G>C (p.Arg577Ser)
c.1830G>C (p.Arg610Ser)
c.1860G>C (p.Arg620Ser)
c.1851G>C (p.Arg617Ser)
c.1821G>C (p.Arg607Ser)
c.1764G>C (p.Arg588Ser)
c.1710G>C (p.Arg570Ser)
c.1503G>C (p.Arg501Ser)
c.1917G>C (p.Arg639Ser)
c.1911G>C (p.Arg637Ser)
c.1908G>C (p.Arg636Ser)
c.1968G>C (p.Arg656Ser)
c.1959G>C (p.Arg653Ser)
c.1878G>C (p.Arg626Ser)
c.1827G>C (p.Arg609Ser)
14g.33800116G=CA2128326886NPAS3c.1809G= (p.Arg603=)
c.1818G= (p.Arg606=)
c.1709G=
c.793+2535G=
c.1713G= (p.Arg571=)
c.1770G= (p.Arg590=)
c.1719G= (p.Arg573=)
c.1824G= (p.Arg608=)
c.1731G= (p.Arg577=)
c.1830G= (p.Arg610=)
c.1860G= (p.Arg620=)
c.1851G= (p.Arg617=)
c.1821G= (p.Arg607=)
c.1764G= (p.Arg588=)
c.1710G= (p.Arg570=)
c.1503G= (p.Arg501=)
c.1917G= (p.Arg639=)
c.1911G= (p.Arg637=)
c.1908G= (p.Arg636=)
c.1968G= (p.Arg656=)
c.1959G= (p.Arg653=)
c.1878G= (p.Arg626=)
c.1827G= (p.Arg609=)
14g.33800116G>TCA389412549NPAS3c.1809G>T (p.Arg603Ser)
c.1818G>T (p.Arg606Ser)
c.1709G>T
c.793+2535G>T
c.1713G>T (p.Arg571Ser)
c.1770G>T (p.Arg590Ser)
c.1719G>T (p.Arg573Ser)
c.1824G>T (p.Arg608Ser)
c.1731G>T (p.Arg577Ser)
c.1830G>T (p.Arg610Ser)
c.1860G>T (p.Arg620Ser)
c.1851G>T (p.Arg617Ser)
c.1821G>T (p.Arg607Ser)
c.1764G>T (p.Arg588Ser)
c.1710G>T (p.Arg570Ser)
c.1503G>T (p.Arg501Ser)
c.1917G>T (p.Arg639Ser)
c.1911G>T (p.Arg637Ser)
c.1908G>T (p.Arg636Ser)
c.1968G>T (p.Arg656Ser)
c.1959G>T (p.Arg653Ser)
c.1878G>T (p.Arg626Ser)
c.1827G>T (p.Arg609Ser)
14g.33800117C>ACA486092790NPAS3c.1810C>A (p.Arg604=)
c.1819C>A (p.Arg607=)
c.1710C>A
c.793+2536C>A
c.1714C>A (p.Arg572=)
c.1771C>A (p.Arg591=)
c.1720C>A (p.Arg574=)
c.1825C>A (p.Arg609=)
c.1732C>A (p.Arg578=)
c.1831C>A (p.Arg611=)
c.1861C>A (p.Arg621=)
c.1852C>A (p.Arg618=)
c.1822C>A (p.Arg608=)
c.1765C>A (p.Arg589=)
c.1711C>A (p.Arg571=)
c.1504C>A (p.Arg502=)
c.1918C>A (p.Arg640=)
c.1912C>A (p.Arg638=)
c.1909C>A (p.Arg637=)
c.1969C>A (p.Arg657=)
c.1960C>A (p.Arg654=)
c.1879C>A (p.Arg627=)
c.1828C>A (p.Arg610=)
 gnomAD v4
14g.33800117C=CA2128326887NPAS3c.1810C= (p.Arg604=)
c.1819C= (p.Arg607=)
c.1710C=
c.793+2536C=
c.1714C= (p.Arg572=)
c.1771C= (p.Arg591=)
c.1720C= (p.Arg574=)
c.1825C= (p.Arg609=)
c.1732C= (p.Arg578=)
c.1831C= (p.Arg611=)
c.1861C= (p.Arg621=)
c.1852C= (p.Arg618=)
c.1822C= (p.Arg608=)
c.1765C= (p.Arg589=)
c.1711C= (p.Arg571=)
c.1504C= (p.Arg502=)
c.1918C= (p.Arg640=)
c.1912C= (p.Arg638=)
c.1909C= (p.Arg637=)
c.1969C= (p.Arg657=)
c.1960C= (p.Arg654=)
c.1879C= (p.Arg627=)
c.1828C= (p.Arg610=)
14g.33800117C>GCA389412552NPAS3c.1810C>G (p.Arg604Gly)
c.1819C>G (p.Arg607Gly)
c.1710C>G
c.793+2536C>G
c.1714C>G (p.Arg572Gly)
c.1771C>G (p.Arg591Gly)
c.1720C>G (p.Arg574Gly)
c.1825C>G (p.Arg609Gly)
c.1732C>G (p.Arg578Gly)
c.1831C>G (p.Arg611Gly)
c.1861C>G (p.Arg621Gly)
c.1852C>G (p.Arg618Gly)
c.1822C>G (p.Arg608Gly)
c.1765C>G (p.Arg589Gly)
c.1711C>G (p.Arg571Gly)
c.1504C>G (p.Arg502Gly)
c.1918C>G (p.Arg640Gly)
c.1912C>G (p.Arg638Gly)
c.1909C>G (p.Arg637Gly)
c.1969C>G (p.Arg657Gly)
c.1960C>G (p.Arg654Gly)
c.1879C>G (p.Arg627Gly)
c.1828C>G (p.Arg610Gly)
14g.33800117C>TCA389412555NPAS3c.1810C>T (p.Arg604Trp)
c.1819C>T (p.Arg607Trp)
c.1710C>T
c.793+2536C>T
c.1714C>T (p.Arg572Trp)
c.1771C>T (p.Arg591Trp)
c.1720C>T (p.Arg574Trp)
c.1825C>T (p.Arg609Trp)
c.1732C>T (p.Arg578Trp)
c.1831C>T (p.Arg611Trp)
c.1861C>T (p.Arg621Trp)
c.1852C>T (p.Arg618Trp)
c.1822C>T (p.Arg608Trp)
c.1765C>T (p.Arg589Trp)
c.1711C>T (p.Arg571Trp)
c.1504C>T (p.Arg502Trp)
c.1918C>T (p.Arg640Trp)
c.1912C>T (p.Arg638Trp)
c.1909C>T (p.Arg637Trp)
c.1969C>T (p.Arg657Trp)
c.1960C>T (p.Arg654Trp)
c.1879C>T (p.Arg627Trp)
c.1828C>T (p.Arg610Trp)
 dbSNP gnomAD v2 gnomAD v4
14g.33800118G>ACA7150880NPAS3c.1811G>A (p.Arg604Gln)
c.1820G>A (p.Arg607Gln)
c.1711G>A
c.793+2537G>A
c.1715G>A (p.Arg572Gln)
c.1772G>A (p.Arg591Gln)
c.1721G>A (p.Arg574Gln)
c.1826G>A (p.Arg609Gln)
c.1733G>A (p.Arg578Gln)
c.1832G>A (p.Arg611Gln)
c.1862G>A (p.Arg621Gln)
c.1853G>A (p.Arg618Gln)
c.1823G>A (p.Arg608Gln)
c.1766G>A (p.Arg589Gln)
c.1712G>A (p.Arg571Gln)
c.1505G>A (p.Arg502Gln)
c.1919G>A (p.Arg640Gln)
c.1913G>A (p.Arg638Gln)
c.1910G>A (p.Arg637Gln)
c.1970G>A (p.Arg657Gln)
c.1961G>A (p.Arg654Gln)
c.1880G>A (p.Arg627Gln)
c.1829G>A (p.Arg610Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800118G>CCA389412568NPAS3c.1811G>C (p.Arg604Pro)
c.1820G>C (p.Arg607Pro)
c.1711G>C
c.793+2537G>C
c.1715G>C (p.Arg572Pro)
c.1772G>C (p.Arg591Pro)
c.1721G>C (p.Arg574Pro)
c.1826G>C (p.Arg609Pro)
c.1733G>C (p.Arg578Pro)
c.1832G>C (p.Arg611Pro)
c.1862G>C (p.Arg621Pro)
c.1853G>C (p.Arg618Pro)
c.1823G>C (p.Arg608Pro)
c.1766G>C (p.Arg589Pro)
c.1712G>C (p.Arg571Pro)
c.1505G>C (p.Arg502Pro)
c.1919G>C (p.Arg640Pro)
c.1913G>C (p.Arg638Pro)
c.1910G>C (p.Arg637Pro)
c.1970G>C (p.Arg657Pro)
c.1961G>C (p.Arg654Pro)
c.1880G>C (p.Arg627Pro)
c.1829G>C (p.Arg610Pro)
14g.33800118G=CA2128326892NPAS3c.1811G= (p.Arg604=)
c.1820G= (p.Arg607=)
c.1711G=
c.793+2537G=
c.1715G= (p.Arg572=)
c.1772G= (p.Arg591=)
c.1721G= (p.Arg574=)
c.1826G= (p.Arg609=)
c.1733G= (p.Arg578=)
c.1832G= (p.Arg611=)
c.1862G= (p.Arg621=)
c.1853G= (p.Arg618=)
c.1823G= (p.Arg608=)
c.1766G= (p.Arg589=)
c.1712G= (p.Arg571=)
c.1505G= (p.Arg502=)
c.1919G= (p.Arg640=)
c.1913G= (p.Arg638=)
c.1910G= (p.Arg637=)
c.1970G= (p.Arg657=)
c.1961G= (p.Arg654=)
c.1880G= (p.Arg627=)
c.1829G= (p.Arg610=)
14g.33800118G>TCA389412557NPAS3c.1811G>T (p.Arg604Leu)
c.1820G>T (p.Arg607Leu)
c.1711G>T
c.793+2537G>T
c.1715G>T (p.Arg572Leu)
c.1772G>T (p.Arg591Leu)
c.1721G>T (p.Arg574Leu)
c.1826G>T (p.Arg609Leu)
c.1733G>T (p.Arg578Leu)
c.1832G>T (p.Arg611Leu)
c.1862G>T (p.Arg621Leu)
c.1853G>T (p.Arg618Leu)
c.1823G>T (p.Arg608Leu)
c.1766G>T (p.Arg589Leu)
c.1712G>T (p.Arg571Leu)
c.1505G>T (p.Arg502Leu)
c.1919G>T (p.Arg640Leu)
c.1913G>T (p.Arg638Leu)
c.1910G>T (p.Arg637Leu)
c.1970G>T (p.Arg657Leu)
c.1961G>T (p.Arg654Leu)
c.1880G>T (p.Arg627Leu)
c.1829G>T (p.Arg610Leu)
14g.33800119G>ACA486092792NPAS3c.1812G>A (p.Arg604=)
c.1821G>A (p.Arg607=)
c.1712G>A
c.793+2538G>A
c.1716G>A (p.Arg572=)
c.1773G>A (p.Arg591=)
c.1722G>A (p.Arg574=)
c.1827G>A (p.Arg609=)
c.1734G>A (p.Arg578=)
c.1833G>A (p.Arg611=)
c.1863G>A (p.Arg621=)
c.1854G>A (p.Arg618=)
c.1824G>A (p.Arg608=)
c.1767G>A (p.Arg589=)
c.1713G>A (p.Arg571=)
c.1506G>A (p.Arg502=)
c.1920G>A (p.Arg640=)
c.1914G>A (p.Arg638=)
c.1911G>A (p.Arg637=)
c.1971G>A (p.Arg657=)
c.1962G>A (p.Arg654=)
c.1881G>A (p.Arg627=)
c.1830G>A (p.Arg610=)
 gnomAD v4
14g.33800119G>CCA486092793NPAS3c.1812G>C (p.Arg604=)
c.1821G>C (p.Arg607=)
c.1712G>C
c.793+2538G>C
c.1716G>C (p.Arg572=)
c.1773G>C (p.Arg591=)
c.1722G>C (p.Arg574=)
c.1827G>C (p.Arg609=)
c.1734G>C (p.Arg578=)
c.1833G>C (p.Arg611=)
c.1863G>C (p.Arg621=)
c.1854G>C (p.Arg618=)
c.1824G>C (p.Arg608=)
c.1767G>C (p.Arg589=)
c.1713G>C (p.Arg571=)
c.1506G>C (p.Arg502=)
c.1920G>C (p.Arg640=)
c.1914G>C (p.Arg638=)
c.1911G>C (p.Arg637=)
c.1971G>C (p.Arg657=)
c.1962G>C (p.Arg654=)
c.1881G>C (p.Arg627=)
c.1830G>C (p.Arg610=)
 dbSNP gnomAD v4
14g.33800119G=CA2128326894NPAS3c.1812G= (p.Arg604=)
c.1821G= (p.Arg607=)
c.1712G=
c.793+2538G=
c.1716G= (p.Arg572=)
c.1773G= (p.Arg591=)
c.1722G= (p.Arg574=)
c.1827G= (p.Arg609=)
c.1734G= (p.Arg578=)
c.1833G= (p.Arg611=)
c.1863G= (p.Arg621=)
c.1854G= (p.Arg618=)
c.1824G= (p.Arg608=)
c.1767G= (p.Arg589=)
c.1713G= (p.Arg571=)
c.1506G= (p.Arg502=)
c.1920G= (p.Arg640=)
c.1914G= (p.Arg638=)
c.1911G= (p.Arg637=)
c.1971G= (p.Arg657=)
c.1962G= (p.Arg654=)
c.1881G= (p.Arg627=)
c.1830G= (p.Arg610=)
14g.33800119G>TCA486092794NPAS3c.1812G>T (p.Arg604=)
c.1821G>T (p.Arg607=)
c.1712G>T
c.793+2538G>T
c.1716G>T (p.Arg572=)
c.1773G>T (p.Arg591=)
c.1722G>T (p.Arg574=)
c.1827G>T (p.Arg609=)
c.1734G>T (p.Arg578=)
c.1833G>T (p.Arg611=)
c.1863G>T (p.Arg621=)
c.1854G>T (p.Arg618=)
c.1824G>T (p.Arg608=)
c.1767G>T (p.Arg589=)
c.1713G>T (p.Arg571=)
c.1506G>T (p.Arg502=)
c.1920G>T (p.Arg640=)
c.1914G>T (p.Arg638=)
c.1911G>T (p.Arg637=)
c.1971G>T (p.Arg657=)
c.1962G>T (p.Arg654=)
c.1881G>T (p.Arg627=)
c.1830G>T (p.Arg610=)
14g.33800120A=CA2128326898NPAS3c.1813A= (p.Lys605=)
c.1822A= (p.Lys608=)
c.1713A=
c.793+2539A=
c.1717A= (p.Lys573=)
c.1774A= (p.Lys592=)
c.1723A= (p.Lys575=)
c.1828A= (p.Lys610=)
c.1735A= (p.Lys579=)
c.1834A= (p.Lys612=)
c.1864A= (p.Lys622=)
c.1855A= (p.Lys619=)
c.1825A= (p.Lys609=)
c.1768A= (p.Lys590=)
c.1714A= (p.Lys572=)
c.1507A= (p.Lys503=)
c.1921A= (p.Lys641=)
c.1915A= (p.Lys639=)
c.1912A= (p.Lys638=)
c.1972A= (p.Lys658=)
c.1963A= (p.Lys655=)
c.1882A= (p.Lys628=)
c.1831A= (p.Lys611=)
14g.33800120A>CCA389412576NPAS3c.1813A>C (p.Lys605Gln)
c.1822A>C (p.Lys608Gln)
c.1713A>C
c.793+2539A>C
c.1717A>C (p.Lys573Gln)
c.1774A>C (p.Lys592Gln)
c.1723A>C (p.Lys575Gln)
c.1828A>C (p.Lys610Gln)
c.1735A>C (p.Lys579Gln)
c.1834A>C (p.Lys612Gln)
c.1864A>C (p.Lys622Gln)
c.1855A>C (p.Lys619Gln)
c.1825A>C (p.Lys609Gln)
c.1768A>C (p.Lys590Gln)
c.1714A>C (p.Lys572Gln)
c.1507A>C (p.Lys503Gln)
c.1921A>C (p.Lys641Gln)
c.1915A>C (p.Lys639Gln)
c.1912A>C (p.Lys638Gln)
c.1972A>C (p.Lys658Gln)
c.1963A>C (p.Lys655Gln)
c.1882A>C (p.Lys628Gln)
c.1831A>C (p.Lys611Gln)
14g.33800120A>GCA7150881NPAS3c.1813A>G (p.Lys605Glu)
c.1822A>G (p.Lys608Glu)
c.1713A>G
c.793+2539A>G
c.1717A>G (p.Lys573Glu)
c.1774A>G (p.Lys592Glu)
c.1723A>G (p.Lys575Glu)
c.1828A>G (p.Lys610Glu)
c.1735A>G (p.Lys579Glu)
c.1834A>G (p.Lys612Glu)
c.1864A>G (p.Lys622Glu)
c.1855A>G (p.Lys619Glu)
c.1825A>G (p.Lys609Glu)
c.1768A>G (p.Lys590Glu)
c.1714A>G (p.Lys572Glu)
c.1507A>G (p.Lys503Glu)
c.1921A>G (p.Lys641Glu)
c.1915A>G (p.Lys639Glu)
c.1912A>G (p.Lys638Glu)
c.1972A>G (p.Lys658Glu)
c.1963A>G (p.Lys655Glu)
c.1882A>G (p.Lys628Glu)
c.1831A>G (p.Lys611Glu)
 dbSNP ExAC gnomAD v2
14g.33800120A>TCA389412573NPAS3c.1813A>T (p.Lys605Ter)
c.1822A>T (p.Lys608Ter)
c.1713A>T
c.793+2539A>T
c.1717A>T (p.Lys573Ter)
c.1774A>T (p.Lys592Ter)
c.1723A>T (p.Lys575Ter)
c.1828A>T (p.Lys610Ter)
c.1735A>T (p.Lys579Ter)
c.1834A>T (p.Lys612Ter)
c.1864A>T (p.Lys622Ter)
c.1855A>T (p.Lys619Ter)
c.1825A>T (p.Lys609Ter)
c.1768A>T (p.Lys590Ter)
c.1714A>T (p.Lys572Ter)
c.1507A>T (p.Lys503Ter)
c.1921A>T (p.Lys641Ter)
c.1915A>T (p.Lys639Ter)
c.1912A>T (p.Lys638Ter)
c.1972A>T (p.Lys658Ter)
c.1963A>T (p.Lys655Ter)
c.1882A>T (p.Lys628Ter)
c.1831A>T (p.Lys611Ter)
14g.33800121A>CCA389412579NPAS3c.1814A>C (p.Lys605Thr)
c.1823A>C (p.Lys608Thr)
c.1714A>C
c.793+2540A>C
c.1718A>C (p.Lys573Thr)
c.1775A>C (p.Lys592Thr)
c.1724A>C (p.Lys575Thr)
c.1829A>C (p.Lys610Thr)
c.1736A>C (p.Lys579Thr)
c.1835A>C (p.Lys612Thr)
c.1865A>C (p.Lys622Thr)
c.1856A>C (p.Lys619Thr)
c.1826A>C (p.Lys609Thr)
c.1769A>C (p.Lys590Thr)
c.1715A>C (p.Lys572Thr)
c.1508A>C (p.Lys503Thr)
c.1922A>C (p.Lys641Thr)
c.1916A>C (p.Lys639Thr)
c.1913A>C (p.Lys638Thr)
c.1973A>C (p.Lys658Thr)
c.1964A>C (p.Lys655Thr)
c.1883A>C (p.Lys628Thr)
c.1832A>C (p.Lys611Thr)
14g.33800121A>GCA389412582NPAS3c.1814A>G (p.Lys605Arg)
c.1823A>G (p.Lys608Arg)
c.1714A>G
c.793+2540A>G
c.1718A>G (p.Lys573Arg)
c.1775A>G (p.Lys592Arg)
c.1724A>G (p.Lys575Arg)
c.1829A>G (p.Lys610Arg)
c.1736A>G (p.Lys579Arg)
c.1835A>G (p.Lys612Arg)
c.1865A>G (p.Lys622Arg)
c.1856A>G (p.Lys619Arg)
c.1826A>G (p.Lys609Arg)
c.1769A>G (p.Lys590Arg)
c.1715A>G (p.Lys572Arg)
c.1508A>G (p.Lys503Arg)
c.1922A>G (p.Lys641Arg)
c.1916A>G (p.Lys639Arg)
c.1913A>G (p.Lys638Arg)
c.1973A>G (p.Lys658Arg)
c.1964A>G (p.Lys655Arg)
c.1883A>G (p.Lys628Arg)
c.1832A>G (p.Lys611Arg)
14g.33800121A>TCA389412585NPAS3c.1814A>T (p.Lys605Ile)
c.1823A>T (p.Lys608Ile)
c.1714A>T
c.793+2540A>T
c.1718A>T (p.Lys573Ile)
c.1775A>T (p.Lys592Ile)
c.1724A>T (p.Lys575Ile)
c.1829A>T (p.Lys610Ile)
c.1736A>T (p.Lys579Ile)
c.1835A>T (p.Lys612Ile)
c.1865A>T (p.Lys622Ile)
c.1856A>T (p.Lys619Ile)
c.1826A>T (p.Lys609Ile)
c.1769A>T (p.Lys590Ile)
c.1715A>T (p.Lys572Ile)
c.1508A>T (p.Lys503Ile)
c.1922A>T (p.Lys641Ile)
c.1916A>T (p.Lys639Ile)
c.1913A>T (p.Lys638Ile)
c.1973A>T (p.Lys658Ile)
c.1964A>T (p.Lys655Ile)
c.1883A>T (p.Lys628Ile)
c.1832A>T (p.Lys611Ile)
14g.33800122A=CA2128326901NPAS3c.1815A= (p.Lys605=)
c.1824A= (p.Lys608=)
c.1715A=
c.793+2541A=
c.1719A= (p.Lys573=)
c.1776A= (p.Lys592=)
c.1725A= (p.Lys575=)
c.1830A= (p.Lys610=)
c.1737A= (p.Lys579=)
c.1836A= (p.Lys612=)
c.1866A= (p.Lys622=)
c.1857A= (p.Lys619=)
c.1827A= (p.Lys609=)
c.1770A= (p.Lys590=)
c.1716A= (p.Lys572=)
c.1509A= (p.Lys503=)
c.1923A= (p.Lys641=)
c.1917A= (p.Lys639=)
c.1914A= (p.Lys638=)
c.1974A= (p.Lys658=)
c.1965A= (p.Lys655=)
c.1884A= (p.Lys628=)
c.1833A= (p.Lys611=)
14g.33800122A>CCA389412588NPAS3c.1815A>C (p.Lys605Asn)
c.1824A>C (p.Lys608Asn)
c.1715A>C
c.793+2541A>C
c.1719A>C (p.Lys573Asn)
c.1776A>C (p.Lys592Asn)
c.1725A>C (p.Lys575Asn)
c.1830A>C (p.Lys610Asn)
c.1737A>C (p.Lys579Asn)
c.1836A>C (p.Lys612Asn)
c.1866A>C (p.Lys622Asn)
c.1857A>C (p.Lys619Asn)
c.1827A>C (p.Lys609Asn)
c.1770A>C (p.Lys590Asn)
c.1716A>C (p.Lys572Asn)
c.1509A>C (p.Lys503Asn)
c.1923A>C (p.Lys641Asn)
c.1917A>C (p.Lys639Asn)
c.1914A>C (p.Lys638Asn)
c.1974A>C (p.Lys658Asn)
c.1965A>C (p.Lys655Asn)
c.1884A>C (p.Lys628Asn)
c.1833A>C (p.Lys611Asn)
14g.33800122A>GCA486092798NPAS3c.1815A>G (p.Lys605=)
c.1824A>G (p.Lys608=)
c.1715A>G
c.793+2541A>G
c.1719A>G (p.Lys573=)
c.1776A>G (p.Lys592=)
c.1725A>G (p.Lys575=)
c.1830A>G (p.Lys610=)
c.1737A>G (p.Lys579=)
c.1836A>G (p.Lys612=)
c.1866A>G (p.Lys622=)
c.1857A>G (p.Lys619=)
c.1827A>G (p.Lys609=)
c.1770A>G (p.Lys590=)
c.1716A>G (p.Lys572=)
c.1509A>G (p.Lys503=)
c.1923A>G (p.Lys641=)
c.1917A>G (p.Lys639=)
c.1914A>G (p.Lys638=)
c.1974A>G (p.Lys658=)
c.1965A>G (p.Lys655=)
c.1884A>G (p.Lys628=)
c.1833A>G (p.Lys611=)
 dbSNP
14g.33800122A>TCA389412593NPAS3c.1815A>T (p.Lys605Asn)
c.1824A>T (p.Lys608Asn)
c.1715A>T
c.793+2541A>T
c.1719A>T (p.Lys573Asn)
c.1776A>T (p.Lys592Asn)
c.1725A>T (p.Lys575Asn)
c.1830A>T (p.Lys610Asn)
c.1737A>T (p.Lys579Asn)
c.1836A>T (p.Lys612Asn)
c.1866A>T (p.Lys622Asn)
c.1857A>T (p.Lys619Asn)
c.1827A>T (p.Lys609Asn)
c.1770A>T (p.Lys590Asn)
c.1716A>T (p.Lys572Asn)
c.1509A>T (p.Lys503Asn)
c.1923A>T (p.Lys641Asn)
c.1917A>T (p.Lys639Asn)
c.1914A>T (p.Lys638Asn)
c.1974A>T (p.Lys658Asn)
c.1965A>T (p.Lys655Asn)
c.1884A>T (p.Lys628Asn)
c.1833A>T (p.Lys611Asn)
14g.33800123C>ACA486092799NPAS3c.1816C>A (p.Arg606=)
c.1825C>A (p.Arg609=)
c.1716C>A
c.793+2542C>A
c.1720C>A (p.Arg574=)
c.1777C>A (p.Arg593=)
c.1726C>A (p.Arg576=)
c.1831C>A (p.Arg611=)
c.1738C>A (p.Arg580=)
c.1837C>A (p.Arg613=)
c.1867C>A (p.Arg623=)
c.1858C>A (p.Arg620=)
c.1828C>A (p.Arg610=)
c.1771C>A (p.Arg591=)
c.1717C>A (p.Arg573=)
c.1510C>A (p.Arg504=)
c.1924C>A (p.Arg642=)
c.1918C>A (p.Arg640=)
c.1915C>A (p.Arg639=)
c.1975C>A (p.Arg659=)
c.1966C>A (p.Arg656=)
c.1885C>A (p.Arg629=)
c.1834C>A (p.Arg612=)
 gnomAD v4
14g.33800123C=CA2128326905NPAS3c.1816C= (p.Arg606=)
c.1825C= (p.Arg609=)
c.1716C=
c.793+2542C=
c.1720C= (p.Arg574=)
c.1777C= (p.Arg593=)
c.1726C= (p.Arg576=)
c.1831C= (p.Arg611=)
c.1738C= (p.Arg580=)
c.1837C= (p.Arg613=)
c.1867C= (p.Arg623=)
c.1858C= (p.Arg620=)
c.1828C= (p.Arg610=)
c.1771C= (p.Arg591=)
c.1717C= (p.Arg573=)
c.1510C= (p.Arg504=)
c.1924C= (p.Arg642=)
c.1918C= (p.Arg640=)
c.1915C= (p.Arg639=)
c.1975C= (p.Arg659=)
c.1966C= (p.Arg656=)
c.1885C= (p.Arg629=)
c.1834C= (p.Arg612=)
14g.33800123C>GCA389412599NPAS3c.1816C>G (p.Arg606Gly)
c.1825C>G (p.Arg609Gly)
c.1716C>G
c.793+2542C>G
c.1720C>G (p.Arg574Gly)
c.1777C>G (p.Arg593Gly)
c.1726C>G (p.Arg576Gly)
c.1831C>G (p.Arg611Gly)
c.1738C>G (p.Arg580Gly)
c.1837C>G (p.Arg613Gly)
c.1867C>G (p.Arg623Gly)
c.1858C>G (p.Arg620Gly)
c.1828C>G (p.Arg610Gly)
c.1771C>G (p.Arg591Gly)
c.1717C>G (p.Arg573Gly)
c.1510C>G (p.Arg504Gly)
c.1924C>G (p.Arg642Gly)
c.1918C>G (p.Arg640Gly)
c.1915C>G (p.Arg639Gly)
c.1975C>G (p.Arg659Gly)
c.1966C>G (p.Arg656Gly)
c.1885C>G (p.Arg629Gly)
c.1834C>G (p.Arg612Gly)
14g.33800123C>TCA389412597NPAS3c.1816C>T (p.Arg606Trp)
c.1825C>T (p.Arg609Trp)
c.1716C>T
c.793+2542C>T
c.1720C>T (p.Arg574Trp)
c.1777C>T (p.Arg593Trp)
c.1726C>T (p.Arg576Trp)
c.1831C>T (p.Arg611Trp)
c.1738C>T (p.Arg580Trp)
c.1837C>T (p.Arg613Trp)
c.1867C>T (p.Arg623Trp)
c.1858C>T (p.Arg620Trp)
c.1828C>T (p.Arg610Trp)
c.1771C>T (p.Arg591Trp)
c.1717C>T (p.Arg573Trp)
c.1510C>T (p.Arg504Trp)
c.1924C>T (p.Arg642Trp)
c.1918C>T (p.Arg640Trp)
c.1915C>T (p.Arg639Trp)
c.1975C>T (p.Arg659Trp)
c.1966C>T (p.Arg656Trp)
c.1885C>T (p.Arg629Trp)
c.1834C>T (p.Arg612Trp)
 dbSNP gnomAD v2 gnomAD v4
14g.33800124G>ACA389412601NPAS3c.1817G>A (p.Arg606Gln)
c.1826G>A (p.Arg609Gln)
c.1717G>A
c.793+2543G>A
c.1721G>A (p.Arg574Gln)
c.1778G>A (p.Arg593Gln)
c.1727G>A (p.Arg576Gln)
c.1832G>A (p.Arg611Gln)
c.1739G>A (p.Arg580Gln)
c.1838G>A (p.Arg613Gln)
c.1868G>A (p.Arg623Gln)
c.1859G>A (p.Arg620Gln)
c.1829G>A (p.Arg610Gln)
c.1772G>A (p.Arg591Gln)
c.1718G>A (p.Arg573Gln)
c.1511G>A (p.Arg504Gln)
c.1925G>A (p.Arg642Gln)
c.1919G>A (p.Arg640Gln)
c.1916G>A (p.Arg639Gln)
c.1976G>A (p.Arg659Gln)
c.1967G>A (p.Arg656Gln)
c.1886G>A (p.Arg629Gln)
c.1835G>A (p.Arg612Gln)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800124G>CCA7150882NPAS3c.1817G>C (p.Arg606Pro)
c.1826G>C (p.Arg609Pro)
c.1717G>C
c.793+2543G>C
c.1721G>C (p.Arg574Pro)
c.1778G>C (p.Arg593Pro)
c.1727G>C (p.Arg576Pro)
c.1832G>C (p.Arg611Pro)
c.1739G>C (p.Arg580Pro)
c.1838G>C (p.Arg613Pro)
c.1868G>C (p.Arg623Pro)
c.1859G>C (p.Arg620Pro)
c.1829G>C (p.Arg610Pro)
c.1772G>C (p.Arg591Pro)
c.1718G>C (p.Arg573Pro)
c.1511G>C (p.Arg504Pro)
c.1925G>C (p.Arg642Pro)
c.1919G>C (p.Arg640Pro)
c.1916G>C (p.Arg639Pro)
c.1976G>C (p.Arg659Pro)
c.1967G>C (p.Arg656Pro)
c.1886G>C (p.Arg629Pro)
c.1835G>C (p.Arg612Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800124G=CA2128326908NPAS3c.1817G= (p.Arg606=)
c.1826G= (p.Arg609=)
c.1717G=
c.793+2543G=
c.1721G= (p.Arg574=)
c.1778G= (p.Arg593=)
c.1727G= (p.Arg576=)
c.1832G= (p.Arg611=)
c.1739G= (p.Arg580=)
c.1838G= (p.Arg613=)
c.1868G= (p.Arg623=)
c.1859G= (p.Arg620=)
c.1829G= (p.Arg610=)
c.1772G= (p.Arg591=)
c.1718G= (p.Arg573=)
c.1511G= (p.Arg504=)
c.1925G= (p.Arg642=)
c.1919G= (p.Arg640=)
c.1916G= (p.Arg639=)
c.1976G= (p.Arg659=)
c.1967G= (p.Arg656=)
c.1886G= (p.Arg629=)
c.1835G= (p.Arg612=)
14g.33800124G>TCA389412605NPAS3c.1817G>T (p.Arg606Leu)
c.1826G>T (p.Arg609Leu)
c.1717G>T
c.793+2543G>T
c.1721G>T (p.Arg574Leu)
c.1778G>T (p.Arg593Leu)
c.1727G>T (p.Arg576Leu)
c.1832G>T (p.Arg611Leu)
c.1739G>T (p.Arg580Leu)
c.1838G>T (p.Arg613Leu)
c.1868G>T (p.Arg623Leu)
c.1859G>T (p.Arg620Leu)
c.1829G>T (p.Arg610Leu)
c.1772G>T (p.Arg591Leu)
c.1718G>T (p.Arg573Leu)
c.1511G>T (p.Arg504Leu)
c.1925G>T (p.Arg642Leu)
c.1919G>T (p.Arg640Leu)
c.1916G>T (p.Arg639Leu)
c.1976G>T (p.Arg659Leu)
c.1967G>T (p.Arg656Leu)
c.1886G>T (p.Arg629Leu)
c.1835G>T (p.Arg612Leu)
 gnomAD v4
14g.33800125G>ACA486092801NPAS3c.1818G>A (p.Arg606=)
c.1827G>A (p.Arg609=)
c.1718G>A
c.793+2544G>A
c.1722G>A (p.Arg574=)
c.1779G>A (p.Arg593=)
c.1728G>A (p.Arg576=)
c.1833G>A (p.Arg611=)
c.1740G>A (p.Arg580=)
c.1839G>A (p.Arg613=)
c.1869G>A (p.Arg623=)
c.1860G>A (p.Arg620=)
c.1830G>A (p.Arg610=)
c.1773G>A (p.Arg591=)
c.1719G>A (p.Arg573=)
c.1512G>A (p.Arg504=)
c.1926G>A (p.Arg642=)
c.1920G>A (p.Arg640=)
c.1917G>A (p.Arg639=)
c.1977G>A (p.Arg659=)
c.1968G>A (p.Arg656=)
c.1887G>A (p.Arg629=)
c.1836G>A (p.Arg612=)
 gnomAD v4
14g.33800125G>CCA486092802NPAS3c.1818G>C (p.Arg606=)
c.1827G>C (p.Arg609=)
c.1718G>C
c.793+2544G>C
c.1722G>C (p.Arg574=)
c.1779G>C (p.Arg593=)
c.1728G>C (p.Arg576=)
c.1833G>C (p.Arg611=)
c.1740G>C (p.Arg580=)
c.1839G>C (p.Arg613=)
c.1869G>C (p.Arg623=)
c.1860G>C (p.Arg620=)
c.1830G>C (p.Arg610=)
c.1773G>C (p.Arg591=)
c.1719G>C (p.Arg573=)
c.1512G>C (p.Arg504=)
c.1926G>C (p.Arg642=)
c.1920G>C (p.Arg640=)
c.1917G>C (p.Arg639=)
c.1977G>C (p.Arg659=)
c.1968G>C (p.Arg656=)
c.1887G>C (p.Arg629=)
c.1836G>C (p.Arg612=)
14g.33800125G>TCA486092804NPAS3c.1818G>T (p.Arg606=)
c.1827G>T (p.Arg609=)
c.1718G>T
c.793+2544G>T
c.1722G>T (p.Arg574=)
c.1779G>T (p.Arg593=)
c.1728G>T (p.Arg576=)
c.1833G>T (p.Arg611=)
c.1740G>T (p.Arg580=)
c.1839G>T (p.Arg613=)
c.1869G>T (p.Arg623=)
c.1860G>T (p.Arg620=)
c.1830G>T (p.Arg610=)
c.1773G>T (p.Arg591=)
c.1719G>T (p.Arg573=)
c.1512G>T (p.Arg504=)
c.1926G>T (p.Arg642=)
c.1920G>T (p.Arg640=)
c.1917G>T (p.Arg639=)
c.1977G>T (p.Arg659=)
c.1968G>T (p.Arg656=)
c.1887G>T (p.Arg629=)
c.1836G>T (p.Arg612=)
 gnomAD v4
14g.33800126C>ACA389412612NPAS3c.1819C>A (p.Gln607Lys)
c.1828C>A (p.Gln610Lys)
c.1719C>A
c.793+2545C>A
c.1723C>A (p.Gln575Lys)
c.1780C>A (p.Gln594Lys)
c.1729C>A (p.Gln577Lys)
c.1834C>A (p.Gln612Lys)
c.1741C>A (p.Gln581Lys)
c.1840C>A (p.Gln614Lys)
c.1870C>A (p.Gln624Lys)
c.1861C>A (p.Gln621Lys)
c.1831C>A (p.Gln611Lys)
c.1774C>A (p.Gln592Lys)
c.1720C>A (p.Gln574Lys)
c.1513C>A (p.Gln505Lys)
c.1927C>A (p.Gln643Lys)
c.1921C>A (p.Gln641Lys)
c.1918C>A (p.Gln640Lys)
c.1978C>A (p.Gln660Lys)
c.1969C>A (p.Gln657Lys)
c.1888C>A (p.Gln630Lys)
c.1837C>A (p.Gln613Lys)
14g.33800126C>GCA389412613NPAS3c.1819C>G (p.Gln607Glu)
c.1828C>G (p.Gln610Glu)
c.1719C>G
c.793+2545C>G
c.1723C>G (p.Gln575Glu)
c.1780C>G (p.Gln594Glu)
c.1729C>G (p.Gln577Glu)
c.1834C>G (p.Gln612Glu)
c.1741C>G (p.Gln581Glu)
c.1840C>G (p.Gln614Glu)
c.1870C>G (p.Gln624Glu)
c.1861C>G (p.Gln621Glu)
c.1831C>G (p.Gln611Glu)
c.1774C>G (p.Gln592Glu)
c.1720C>G (p.Gln574Glu)
c.1513C>G (p.Gln505Glu)
c.1927C>G (p.Gln643Glu)
c.1921C>G (p.Gln641Glu)
c.1918C>G (p.Gln640Glu)
c.1978C>G (p.Gln660Glu)
c.1969C>G (p.Gln657Glu)
c.1888C>G (p.Gln630Glu)
c.1837C>G (p.Gln613Glu)
14g.33800126C>TCA389412615NPAS3c.1819C>T (p.Gln607Ter)
c.1828C>T (p.Gln610Ter)
c.1719C>T
c.793+2545C>T
c.1723C>T (p.Gln575Ter)
c.1780C>T (p.Gln594Ter)
c.1729C>T (p.Gln577Ter)
c.1834C>T (p.Gln612Ter)
c.1741C>T (p.Gln581Ter)
c.1840C>T (p.Gln614Ter)
c.1870C>T (p.Gln624Ter)
c.1861C>T (p.Gln621Ter)
c.1831C>T (p.Gln611Ter)
c.1774C>T (p.Gln592Ter)
c.1720C>T (p.Gln574Ter)
c.1513C>T (p.Gln505Ter)
c.1927C>T (p.Gln643Ter)
c.1921C>T (p.Gln641Ter)
c.1918C>T (p.Gln640Ter)
c.1978C>T (p.Gln660Ter)
c.1969C>T (p.Gln657Ter)
c.1888C>T (p.Gln630Ter)
c.1837C>T (p.Gln613Ter)
14g.33800126_33800128delinsCAACA2128326912NPAS3c.1819_1821delinsCAA (p.Gln607=)
c.1828_1830delinsCAA (p.Gln610=)
c.1719_1721delinsCAA
c.793+2545_793+2547delinsCAA
c.1723_1725delinsCAA (p.Gln575=)
c.1780_1782delinsCAA (p.Gln594=)
c.1729_1731delinsCAA (p.Gln577=)
c.1834_1836delinsCAA (p.Gln612=)
c.1741_1743delinsCAA (p.Gln581=)
c.1840_1842delinsCAA (p.Gln614=)
c.1870_1872delinsCAA (p.Gln624=)
c.1861_1863delinsCAA (p.Gln621=)
c.1831_1833delinsCAA (p.Gln611=)
c.1774_1776delinsCAA (p.Gln592=)
c.1720_1722delinsCAA (p.Gln574=)
c.1513_1515delinsCAA (p.Gln505=)
c.1927_1929delinsCAA (p.Gln643=)
c.1921_1923delinsCAA (p.Gln641=)
c.1918_1920delinsCAA (p.Gln640=)
c.1978_1980delinsCAA (p.Gln660=)
c.1969_1971delinsCAA (p.Gln657=)
c.1888_1890delinsCAA (p.Gln630=)
c.1837_1839delinsCAA (p.Gln613=)
14g.33800127A>CCA389412618NPAS3c.1820A>C (p.Gln607Pro)
c.1829A>C (p.Gln610Pro)
c.1720A>C
c.793+2546A>C
c.1724A>C (p.Gln575Pro)
c.1781A>C (p.Gln594Pro)
c.1730A>C (p.Gln577Pro)
c.1835A>C (p.Gln612Pro)
c.1742A>C (p.Gln581Pro)
c.1841A>C (p.Gln614Pro)
c.1871A>C (p.Gln624Pro)
c.1862A>C (p.Gln621Pro)
c.1832A>C (p.Gln611Pro)
c.1775A>C (p.Gln592Pro)
c.1721A>C (p.Gln574Pro)
c.1514A>C (p.Gln505Pro)
c.1928A>C (p.Gln643Pro)
c.1922A>C (p.Gln641Pro)
c.1919A>C (p.Gln640Pro)
c.1979A>C (p.Gln660Pro)
c.1970A>C (p.Gln657Pro)
c.1889A>C (p.Gln630Pro)
c.1838A>C (p.Gln613Pro)
14g.33800127A>GCA389412624NPAS3c.1820A>G (p.Gln607Arg)
c.1829A>G (p.Gln610Arg)
c.1720A>G
c.793+2546A>G
c.1724A>G (p.Gln575Arg)
c.1781A>G (p.Gln594Arg)
c.1730A>G (p.Gln577Arg)
c.1835A>G (p.Gln612Arg)
c.1742A>G (p.Gln581Arg)
c.1841A>G (p.Gln614Arg)
c.1871A>G (p.Gln624Arg)
c.1862A>G (p.Gln621Arg)
c.1832A>G (p.Gln611Arg)
c.1775A>G (p.Gln592Arg)
c.1721A>G (p.Gln574Arg)
c.1514A>G (p.Gln505Arg)
c.1928A>G (p.Gln643Arg)
c.1922A>G (p.Gln641Arg)
c.1919A>G (p.Gln640Arg)
c.1979A>G (p.Gln660Arg)
c.1970A>G (p.Gln657Arg)
c.1889A>G (p.Gln630Arg)
c.1838A>G (p.Gln613Arg)
14g.33800127A>TCA389412621NPAS3c.1820A>T (p.Gln607Leu)
c.1829A>T (p.Gln610Leu)
c.1720A>T
c.793+2546A>T
c.1724A>T (p.Gln575Leu)
c.1781A>T (p.Gln594Leu)
c.1730A>T (p.Gln577Leu)
c.1835A>T (p.Gln612Leu)
c.1742A>T (p.Gln581Leu)
c.1841A>T (p.Gln614Leu)
c.1871A>T (p.Gln624Leu)
c.1862A>T (p.Gln621Leu)
c.1832A>T (p.Gln611Leu)
c.1775A>T (p.Gln592Leu)
c.1721A>T (p.Gln574Leu)
c.1514A>T (p.Gln505Leu)
c.1928A>T (p.Gln643Leu)
c.1922A>T (p.Gln641Leu)
c.1919A>T (p.Gln640Leu)
c.1979A>T (p.Gln660Leu)
c.1970A>T (p.Gln657Leu)
c.1889A>T (p.Gln630Leu)
c.1838A>T (p.Gln613Leu)
14g.33800130delCA2624512027NPAS3c.1823del (p.Lys608ArgfsTer?)
c.1832del (p.Lys611ArgfsTer?)
c.1723del
c.793+2549del
c.1727del (p.Lys576ArgfsTer?)
c.1784del (p.Lys595ArgfsTer?)
c.1733del (p.Lys578ArgfsTer?)
c.1838del (p.Lys613ArgfsTer?)
c.1745del (p.Lys582ArgfsTer?)
c.1844del (p.Lys615ArgfsTer?)
c.1874del (p.Lys625ArgfsTer?)
c.1865del (p.Lys622ArgfsTer?)
c.1835del (p.Lys612ArgfsTer?)
c.1778del (p.Lys593ArgfsTer?)
c.1724del (p.Lys575ArgfsTer?)
c.1517del (p.Lys506ArgfsTer?)
c.1931del (p.Lys644ArgfsTer?)
c.1925del (p.Lys642ArgfsTer?)
c.1922del (p.Lys641ArgfsTer?)
c.1982del (p.Lys661ArgfsTer?)
c.1973del (p.Lys658ArgfsTer?)
c.1892del (p.Lys631ArgfsTer?)
c.1841del (p.Lys614ArgfsTer?)
 gnomAD v4
14g.33800129_33800130delCA7150883NPAS3c.1822_1823del (p.Lys608GlyfsTer?)
c.1831_1832del (p.Lys611GlyfsTer?)
c.1722_1723del
c.793+2548_793+2549del
c.1726_1727del (p.Lys576GlyfsTer?)
c.1783_1784del (p.Lys595GlyfsTer?)
c.1732_1733del (p.Lys578GlyfsTer?)
c.1837_1838del (p.Lys613GlyfsTer?)
c.1744_1745del (p.Lys582GlyfsTer?)
c.1843_1844del (p.Lys615GlyfsTer?)
c.1873_1874del (p.Lys625GlyfsTer?)
c.1864_1865del (p.Lys622GlyfsTer?)
c.1834_1835del (p.Lys612GlyfsTer?)
c.1777_1778del (p.Lys593GlyfsTer?)
c.1723_1724del (p.Lys575GlyfsTer?)
c.1516_1517del (p.Lys506GlyfsTer?)
c.1930_1931del (p.Lys644GlyfsTer?)
c.1924_1925del (p.Lys642GlyfsTer?)
c.1921_1922del (p.Lys641GlyfsTer?)
c.1981_1982del (p.Lys661GlyfsTer?)
c.1972_1973del (p.Lys658GlyfsTer?)
c.1891_1892del (p.Lys631GlyfsTer?)
c.1840_1841del (p.Lys614GlyfsTer?)
 dbSNP ExAC
14g.33800128A>CCA389412628NPAS3c.1821A>C (p.Gln607His)
c.1830A>C (p.Gln610His)
c.1721A>C
c.793+2547A>C
c.1725A>C (p.Gln575His)
c.1782A>C (p.Gln594His)
c.1731A>C (p.Gln577His)
c.1836A>C (p.Gln612His)
c.1743A>C (p.Gln581His)
c.1842A>C (p.Gln614His)
c.1872A>C (p.Gln624His)
c.1863A>C (p.Gln621His)
c.1833A>C (p.Gln611His)
c.1776A>C (p.Gln592His)
c.1722A>C (p.Gln574His)
c.1515A>C (p.Gln505His)
c.1929A>C (p.Gln643His)
c.1923A>C (p.Gln641His)
c.1920A>C (p.Gln640His)
c.1980A>C (p.Gln660His)
c.1971A>C (p.Gln657His)
c.1890A>C (p.Gln630His)
c.1839A>C (p.Gln613His)
14g.33800128A>GCA486092809NPAS3c.1821A>G (p.Gln607=)
c.1830A>G (p.Gln610=)
c.1721A>G
c.793+2547A>G
c.1725A>G (p.Gln575=)
c.1782A>G (p.Gln594=)
c.1731A>G (p.Gln577=)
c.1836A>G (p.Gln612=)
c.1743A>G (p.Gln581=)
c.1842A>G (p.Gln614=)
c.1872A>G (p.Gln624=)
c.1863A>G (p.Gln621=)
c.1833A>G (p.Gln611=)
c.1776A>G (p.Gln592=)
c.1722A>G (p.Gln574=)
c.1515A>G (p.Gln505=)
c.1929A>G (p.Gln643=)
c.1923A>G (p.Gln641=)
c.1920A>G (p.Gln640=)
c.1980A>G (p.Gln660=)
c.1971A>G (p.Gln657=)
c.1890A>G (p.Gln630=)
c.1839A>G (p.Gln613=)
14g.33800128A>TCA389412631NPAS3c.1821A>T (p.Gln607His)
c.1830A>T (p.Gln610His)
c.1721A>T
c.793+2547A>T
c.1725A>T (p.Gln575His)
c.1782A>T (p.Gln594His)
c.1731A>T (p.Gln577His)
c.1836A>T (p.Gln612His)
c.1743A>T (p.Gln581His)
c.1842A>T (p.Gln614His)
c.1872A>T (p.Gln624His)
c.1863A>T (p.Gln621His)
c.1833A>T (p.Gln611His)
c.1776A>T (p.Gln592His)
c.1722A>T (p.Gln574His)
c.1515A>T (p.Gln505His)
c.1929A>T (p.Gln643His)
c.1923A>T (p.Gln641His)
c.1920A>T (p.Gln640His)
c.1980A>T (p.Gln660His)
c.1971A>T (p.Gln657His)
c.1890A>T (p.Gln630His)
c.1839A>T (p.Gln613His)
14g.33800129A>CCA389412634NPAS3c.1822A>C (p.Lys608Gln)
c.1831A>C (p.Lys611Gln)
c.1722A>C
c.793+2548A>C
c.1726A>C (p.Lys576Gln)
c.1783A>C (p.Lys595Gln)
c.1732A>C (p.Lys578Gln)
c.1837A>C (p.Lys613Gln)
c.1744A>C (p.Lys582Gln)
c.1843A>C (p.Lys615Gln)
c.1873A>C (p.Lys625Gln)
c.1864A>C (p.Lys622Gln)
c.1834A>C (p.Lys612Gln)
c.1777A>C (p.Lys593Gln)
c.1723A>C (p.Lys575Gln)
c.1516A>C (p.Lys506Gln)
c.1930A>C (p.Lys644Gln)
c.1924A>C (p.Lys642Gln)
c.1921A>C (p.Lys641Gln)
c.1981A>C (p.Lys661Gln)
c.1972A>C (p.Lys658Gln)
c.1891A>C (p.Lys631Gln)
c.1840A>C (p.Lys614Gln)
14g.33800129A>GCA389412637NPAS3c.1822A>G (p.Lys608Glu)
c.1831A>G (p.Lys611Glu)
c.1722A>G
c.793+2548A>G
c.1726A>G (p.Lys576Glu)
c.1783A>G (p.Lys595Glu)
c.1732A>G (p.Lys578Glu)
c.1837A>G (p.Lys613Glu)
c.1744A>G (p.Lys582Glu)
c.1843A>G (p.Lys615Glu)
c.1873A>G (p.Lys625Glu)
c.1864A>G (p.Lys622Glu)
c.1834A>G (p.Lys612Glu)
c.1777A>G (p.Lys593Glu)
c.1723A>G (p.Lys575Glu)
c.1516A>G (p.Lys506Glu)
c.1930A>G (p.Lys644Glu)
c.1924A>G (p.Lys642Glu)
c.1921A>G (p.Lys641Glu)
c.1981A>G (p.Lys661Glu)
c.1972A>G (p.Lys658Glu)
c.1891A>G (p.Lys631Glu)
c.1840A>G (p.Lys614Glu)
 gnomAD v4
14g.33800129A>TCA389412638NPAS3c.1822A>T (p.Lys608Ter)
c.1831A>T (p.Lys611Ter)
c.1722A>T
c.793+2548A>T
c.1726A>T (p.Lys576Ter)
c.1783A>T (p.Lys595Ter)
c.1732A>T (p.Lys578Ter)
c.1837A>T (p.Lys613Ter)
c.1744A>T (p.Lys582Ter)
c.1843A>T (p.Lys615Ter)
c.1873A>T (p.Lys625Ter)
c.1864A>T (p.Lys622Ter)
c.1834A>T (p.Lys612Ter)
c.1777A>T (p.Lys593Ter)
c.1723A>T (p.Lys575Ter)
c.1516A>T (p.Lys506Ter)
c.1930A>T (p.Lys644Ter)
c.1924A>T (p.Lys642Ter)
c.1921A>T (p.Lys641Ter)
c.1981A>T (p.Lys661Ter)
c.1972A>T (p.Lys658Ter)
c.1891A>T (p.Lys631Ter)
c.1840A>T (p.Lys614Ter)
14g.33800130A>CCA389412642NPAS3c.1823A>C (p.Lys608Thr)
c.1832A>C (p.Lys611Thr)
c.1723A>C
c.793+2549A>C
c.1727A>C (p.Lys576Thr)
c.1784A>C (p.Lys595Thr)
c.1733A>C (p.Lys578Thr)
c.1838A>C (p.Lys613Thr)
c.1745A>C (p.Lys582Thr)
c.1844A>C (p.Lys615Thr)
c.1874A>C (p.Lys625Thr)
c.1865A>C (p.Lys622Thr)
c.1835A>C (p.Lys612Thr)
c.1778A>C (p.Lys593Thr)
c.1724A>C (p.Lys575Thr)
c.1517A>C (p.Lys506Thr)
c.1931A>C (p.Lys644Thr)
c.1925A>C (p.Lys642Thr)
c.1922A>C (p.Lys641Thr)
c.1982A>C (p.Lys661Thr)
c.1973A>C (p.Lys658Thr)
c.1892A>C (p.Lys631Thr)
c.1841A>C (p.Lys614Thr)
14g.33800130A>GCA389412644NPAS3c.1823A>G (p.Lys608Arg)
c.1832A>G (p.Lys611Arg)
c.1723A>G
c.793+2549A>G
c.1727A>G (p.Lys576Arg)
c.1784A>G (p.Lys595Arg)
c.1733A>G (p.Lys578Arg)
c.1838A>G (p.Lys613Arg)
c.1745A>G (p.Lys582Arg)
c.1844A>G (p.Lys615Arg)
c.1874A>G (p.Lys625Arg)
c.1865A>G (p.Lys622Arg)
c.1835A>G (p.Lys612Arg)
c.1778A>G (p.Lys593Arg)
c.1724A>G (p.Lys575Arg)
c.1517A>G (p.Lys506Arg)
c.1931A>G (p.Lys644Arg)
c.1925A>G (p.Lys642Arg)
c.1922A>G (p.Lys641Arg)
c.1982A>G (p.Lys661Arg)
c.1973A>G (p.Lys658Arg)
c.1892A>G (p.Lys631Arg)
c.1841A>G (p.Lys614Arg)
 gnomAD v4
14g.33800130A>TCA389412649NPAS3c.1823A>T (p.Lys608Met)
c.1832A>T (p.Lys611Met)
c.1723A>T
c.793+2549A>T
c.1727A>T (p.Lys576Met)
c.1784A>T (p.Lys595Met)
c.1733A>T (p.Lys578Met)
c.1838A>T (p.Lys613Met)
c.1745A>T (p.Lys582Met)
c.1844A>T (p.Lys615Met)
c.1874A>T (p.Lys625Met)
c.1865A>T (p.Lys622Met)
c.1835A>T (p.Lys612Met)
c.1778A>T (p.Lys593Met)
c.1724A>T (p.Lys575Met)
c.1517A>T (p.Lys506Met)
c.1931A>T (p.Lys644Met)
c.1925A>T (p.Lys642Met)
c.1922A>T (p.Lys641Met)
c.1982A>T (p.Lys661Met)
c.1973A>T (p.Lys658Met)
c.1892A>T (p.Lys631Met)
c.1841A>T (p.Lys614Met)
14g.33800131G>ACA486092811NPAS3c.1824G>A (p.Lys608=)
c.1833G>A (p.Lys611=)
c.1724G>A
c.793+2550G>A
c.1728G>A (p.Lys576=)
c.1785G>A (p.Lys595=)
c.1734G>A (p.Lys578=)
c.1839G>A (p.Lys613=)
c.1746G>A (p.Lys582=)
c.1845G>A (p.Lys615=)
c.1875G>A (p.Lys625=)
c.1866G>A (p.Lys622=)
c.1836G>A (p.Lys612=)
c.1779G>A (p.Lys593=)
c.1725G>A (p.Lys575=)
c.1518G>A (p.Lys506=)
c.1932G>A (p.Lys644=)
c.1926G>A (p.Lys642=)
c.1923G>A (p.Lys641=)
c.1983G>A (p.Lys661=)
c.1974G>A (p.Lys658=)
c.1893G>A (p.Lys631=)
c.1842G>A (p.Lys614=)
 gnomAD v4
14g.33800131G>CCA389412653NPAS3c.1824G>C (p.Lys608Asn)
c.1833G>C (p.Lys611Asn)
c.1724G>C
c.793+2550G>C
c.1728G>C (p.Lys576Asn)
c.1785G>C (p.Lys595Asn)
c.1734G>C (p.Lys578Asn)
c.1839G>C (p.Lys613Asn)
c.1746G>C (p.Lys582Asn)
c.1845G>C (p.Lys615Asn)
c.1875G>C (p.Lys625Asn)
c.1866G>C (p.Lys622Asn)
c.1836G>C (p.Lys612Asn)
c.1779G>C (p.Lys593Asn)
c.1725G>C (p.Lys575Asn)
c.1518G>C (p.Lys506Asn)
c.1932G>C (p.Lys644Asn)
c.1926G>C (p.Lys642Asn)
c.1923G>C (p.Lys641Asn)
c.1983G>C (p.Lys661Asn)
c.1974G>C (p.Lys658Asn)
c.1893G>C (p.Lys631Asn)
c.1842G>C (p.Lys614Asn)
14g.33800131G>TCA389412656NPAS3c.1824G>T (p.Lys608Asn)
c.1833G>T (p.Lys611Asn)
c.1724G>T
c.793+2550G>T
c.1728G>T (p.Lys576Asn)
c.1785G>T (p.Lys595Asn)
c.1734G>T (p.Lys578Asn)
c.1839G>T (p.Lys613Asn)
c.1746G>T (p.Lys582Asn)
c.1845G>T (p.Lys615Asn)
c.1875G>T (p.Lys625Asn)
c.1866G>T (p.Lys622Asn)
c.1836G>T (p.Lys612Asn)
c.1779G>T (p.Lys593Asn)
c.1725G>T (p.Lys575Asn)
c.1518G>T (p.Lys506Asn)
c.1932G>T (p.Lys644Asn)
c.1926G>T (p.Lys642Asn)
c.1923G>T (p.Lys641Asn)
c.1983G>T (p.Lys661Asn)
c.1974G>T (p.Lys658Asn)
c.1893G>T (p.Lys631Asn)
c.1842G>T (p.Lys614Asn)
 gnomAD v4
14g.33800132G>ACA7150884NPAS3c.1825G>A (p.Gly609Ser)
c.1834G>A (p.Gly612Ser)
c.1725G>A
c.793+2551G>A
c.1729G>A (p.Gly577Ser)
c.1786G>A (p.Gly596Ser)
c.1735G>A (p.Gly579Ser)
c.1840G>A (p.Gly614Ser)
c.1747G>A (p.Gly583Ser)
c.1846G>A (p.Gly616Ser)
c.1876G>A (p.Gly626Ser)
c.1867G>A (p.Gly623Ser)
c.1837G>A (p.Gly613Ser)
c.1780G>A (p.Gly594Ser)
c.1726G>A (p.Gly576Ser)
c.1519G>A (p.Gly507Ser)
c.1933G>A (p.Gly645Ser)
c.1927G>A (p.Gly643Ser)
c.1924G>A (p.Gly642Ser)
c.1984G>A (p.Gly662Ser)
c.1975G>A (p.Gly659Ser)
c.1894G>A (p.Gly632Ser)
c.1843G>A (p.Gly615Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800132G>CCA389412661NPAS3c.1825G>C (p.Gly609Arg)
c.1834G>C (p.Gly612Arg)
c.1725G>C
c.793+2551G>C
c.1729G>C (p.Gly577Arg)
c.1786G>C (p.Gly596Arg)
c.1735G>C (p.Gly579Arg)
c.1840G>C (p.Gly614Arg)
c.1747G>C (p.Gly583Arg)
c.1846G>C (p.Gly616Arg)
c.1876G>C (p.Gly626Arg)
c.1867G>C (p.Gly623Arg)
c.1837G>C (p.Gly613Arg)
c.1780G>C (p.Gly594Arg)
c.1726G>C (p.Gly576Arg)
c.1519G>C (p.Gly507Arg)
c.1933G>C (p.Gly645Arg)
c.1927G>C (p.Gly643Arg)
c.1924G>C (p.Gly642Arg)
c.1984G>C (p.Gly662Arg)
c.1975G>C (p.Gly659Arg)
c.1894G>C (p.Gly632Arg)
c.1843G>C (p.Gly615Arg)
14g.33800132G=CA2128326922NPAS3c.1825G= (p.Gly609=)
c.1834G= (p.Gly612=)
c.1725G=
c.793+2551G=
c.1729G= (p.Gly577=)
c.1786G= (p.Gly596=)
c.1735G= (p.Gly579=)
c.1840G= (p.Gly614=)
c.1747G= (p.Gly583=)
c.1846G= (p.Gly616=)
c.1876G= (p.Gly626=)
c.1867G= (p.Gly623=)
c.1837G= (p.Gly613=)
c.1780G= (p.Gly594=)
c.1726G= (p.Gly576=)
c.1519G= (p.Gly507=)
c.1933G= (p.Gly645=)
c.1927G= (p.Gly643=)
c.1924G= (p.Gly642=)
c.1984G= (p.Gly662=)
c.1975G= (p.Gly659=)
c.1894G= (p.Gly632=)
c.1843G= (p.Gly615=)
14g.33800132G>TCA7150885NPAS3c.1825G>T (p.Gly609Cys)
c.1834G>T (p.Gly612Cys)
c.1725G>T
c.793+2551G>T
c.1729G>T (p.Gly577Cys)
c.1786G>T (p.Gly596Cys)
c.1735G>T (p.Gly579Cys)
c.1840G>T (p.Gly614Cys)
c.1747G>T (p.Gly583Cys)
c.1846G>T (p.Gly616Cys)
c.1876G>T (p.Gly626Cys)
c.1867G>T (p.Gly623Cys)
c.1837G>T (p.Gly613Cys)
c.1780G>T (p.Gly594Cys)
c.1726G>T (p.Gly576Cys)
c.1519G>T (p.Gly507Cys)
c.1933G>T (p.Gly645Cys)
c.1927G>T (p.Gly643Cys)
c.1924G>T (p.Gly642Cys)
c.1984G>T (p.Gly662Cys)
c.1975G>T (p.Gly659Cys)
c.1894G>T (p.Gly632Cys)
c.1843G>T (p.Gly615Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800133G>ACA389412664NPAS3c.1826G>A (p.Gly609Asp)
c.1835G>A (p.Gly612Asp)
c.1726G>A
c.793+2552G>A
c.1730G>A (p.Gly577Asp)
c.1787G>A (p.Gly596Asp)
c.1736G>A (p.Gly579Asp)
c.1841G>A (p.Gly614Asp)
c.1748G>A (p.Gly583Asp)
c.1847G>A (p.Gly616Asp)
c.1877G>A (p.Gly626Asp)
c.1868G>A (p.Gly623Asp)
c.1838G>A (p.Gly613Asp)
c.1781G>A (p.Gly594Asp)
c.1727G>A (p.Gly576Asp)
c.1520G>A (p.Gly507Asp)
c.1934G>A (p.Gly645Asp)
c.1928G>A (p.Gly643Asp)
c.1925G>A (p.Gly642Asp)
c.1985G>A (p.Gly662Asp)
c.1976G>A (p.Gly659Asp)
c.1895G>A (p.Gly632Asp)
c.1844G>A (p.Gly615Asp)
 dbSNP gnomAD v2 gnomAD v4
14g.33800133G>CCA389412667NPAS3c.1826G>C (p.Gly609Ala)
c.1835G>C (p.Gly612Ala)
c.1726G>C
c.793+2552G>C
c.1730G>C (p.Gly577Ala)
c.1787G>C (p.Gly596Ala)
c.1736G>C (p.Gly579Ala)
c.1841G>C (p.Gly614Ala)
c.1748G>C (p.Gly583Ala)
c.1847G>C (p.Gly616Ala)
c.1877G>C (p.Gly626Ala)
c.1868G>C (p.Gly623Ala)
c.1838G>C (p.Gly613Ala)
c.1781G>C (p.Gly594Ala)
c.1727G>C (p.Gly576Ala)
c.1520G>C (p.Gly507Ala)
c.1934G>C (p.Gly645Ala)
c.1928G>C (p.Gly643Ala)
c.1925G>C (p.Gly642Ala)
c.1985G>C (p.Gly662Ala)
c.1976G>C (p.Gly659Ala)
c.1895G>C (p.Gly632Ala)
c.1844G>C (p.Gly615Ala)
14g.33800133G=CA2128326926NPAS3c.1826G= (p.Gly609=)
c.1835G= (p.Gly612=)
c.1726G=
c.793+2552G=
c.1730G= (p.Gly577=)
c.1787G= (p.Gly596=)
c.1736G= (p.Gly579=)
c.1841G= (p.Gly614=)
c.1748G= (p.Gly583=)
c.1847G= (p.Gly616=)
c.1877G= (p.Gly626=)
c.1868G= (p.Gly623=)
c.1838G= (p.Gly613=)
c.1781G= (p.Gly594=)
c.1727G= (p.Gly576=)
c.1520G= (p.Gly507=)
c.1934G= (p.Gly645=)
c.1928G= (p.Gly643=)
c.1925G= (p.Gly642=)
c.1985G= (p.Gly662=)
c.1976G= (p.Gly659=)
c.1895G= (p.Gly632=)
c.1844G= (p.Gly615=)
14g.33800133G>TCA389412673NPAS3c.1826G>T (p.Gly609Val)
c.1835G>T (p.Gly612Val)
c.1726G>T
c.793+2552G>T
c.1730G>T (p.Gly577Val)
c.1787G>T (p.Gly596Val)
c.1736G>T (p.Gly579Val)
c.1841G>T (p.Gly614Val)
c.1748G>T (p.Gly583Val)
c.1847G>T (p.Gly616Val)
c.1877G>T (p.Gly626Val)
c.1868G>T (p.Gly623Val)
c.1838G>T (p.Gly613Val)
c.1781G>T (p.Gly594Val)
c.1727G>T (p.Gly576Val)
c.1520G>T (p.Gly507Val)
c.1934G>T (p.Gly645Val)
c.1928G>T (p.Gly643Val)
c.1925G>T (p.Gly642Val)
c.1985G>T (p.Gly662Val)
c.1976G>T (p.Gly659Val)
c.1895G>T (p.Gly632Val)
c.1844G>T (p.Gly615Val)
14g.33800134C>ACA486092814NPAS3c.1827C>A (p.Gly609=)
c.1836C>A (p.Gly612=)
c.1727C>A
c.793+2553C>A
c.1731C>A (p.Gly577=)
c.1788C>A (p.Gly596=)
c.1737C>A (p.Gly579=)
c.1842C>A (p.Gly614=)
c.1749C>A (p.Gly583=)
c.1848C>A (p.Gly616=)
c.1878C>A (p.Gly626=)
c.1869C>A (p.Gly623=)
c.1839C>A (p.Gly613=)
c.1782C>A (p.Gly594=)
c.1728C>A (p.Gly576=)
c.1521C>A (p.Gly507=)
c.1935C>A (p.Gly645=)
c.1929C>A (p.Gly643=)
c.1926C>A (p.Gly642=)
c.1986C>A (p.Gly662=)
c.1977C>A (p.Gly659=)
c.1896C>A (p.Gly632=)
c.1845C>A (p.Gly615=)
 dbSNP
14g.33800134C=CA2128326930NPAS3c.1827C= (p.Gly609=)
c.1836C= (p.Gly612=)
c.1727C=
c.793+2553C=
c.1731C= (p.Gly577=)
c.1788C= (p.Gly596=)
c.1737C= (p.Gly579=)
c.1842C= (p.Gly614=)
c.1749C= (p.Gly583=)
c.1848C= (p.Gly616=)
c.1878C= (p.Gly626=)
c.1869C= (p.Gly623=)
c.1839C= (p.Gly613=)
c.1782C= (p.Gly594=)
c.1728C= (p.Gly576=)
c.1521C= (p.Gly507=)
c.1935C= (p.Gly645=)
c.1929C= (p.Gly643=)
c.1926C= (p.Gly642=)
c.1986C= (p.Gly662=)
c.1977C= (p.Gly659=)
c.1896C= (p.Gly632=)
c.1845C= (p.Gly615=)
14g.33800134C>GCA486092815NPAS3c.1827C>G (p.Gly609=)
c.1836C>G (p.Gly612=)
c.1727C>G
c.793+2553C>G
c.1731C>G (p.Gly577=)
c.1788C>G (p.Gly596=)
c.1737C>G (p.Gly579=)
c.1842C>G (p.Gly614=)
c.1749C>G (p.Gly583=)
c.1848C>G (p.Gly616=)
c.1878C>G (p.Gly626=)
c.1869C>G (p.Gly623=)
c.1839C>G (p.Gly613=)
c.1782C>G (p.Gly594=)
c.1728C>G (p.Gly576=)
c.1521C>G (p.Gly507=)
c.1935C>G (p.Gly645=)
c.1929C>G (p.Gly643=)
c.1926C>G (p.Gly642=)
c.1986C>G (p.Gly662=)
c.1977C>G (p.Gly659=)
c.1896C>G (p.Gly632=)
c.1845C>G (p.Gly615=)
14g.33800134C>TCA7150886NPAS3c.1827C>T (p.Gly609=)
c.1836C>T (p.Gly612=)
c.1727C>T
c.793+2553C>T
c.1731C>T (p.Gly577=)
c.1788C>T (p.Gly596=)
c.1737C>T (p.Gly579=)
c.1842C>T (p.Gly614=)
c.1749C>T (p.Gly583=)
c.1848C>T (p.Gly616=)
c.1878C>T (p.Gly626=)
c.1869C>T (p.Gly623=)
c.1839C>T (p.Gly613=)
c.1782C>T (p.Gly594=)
c.1728C>T (p.Gly576=)
c.1521C>T (p.Gly507=)
c.1935C>T (p.Gly645=)
c.1929C>T (p.Gly643=)
c.1926C>T (p.Gly642=)
c.1986C>T (p.Gly662=)
c.1977C>T (p.Gly659=)
c.1896C>T (p.Gly632=)
c.1845C>T (p.Gly615=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800135G>ACA7150887NPAS3c.1828G>A (p.Gly610Ser)
c.1837G>A (p.Gly613Ser)
c.1728G>A
c.793+2554G>A
c.1732G>A (p.Gly578Ser)
c.1789G>A (p.Gly597Ser)
c.1738G>A (p.Gly580Ser)
c.1843G>A (p.Gly615Ser)
c.1750G>A (p.Gly584Ser)
c.1849G>A (p.Gly617Ser)
c.1879G>A (p.Gly627Ser)
c.1870G>A (p.Gly624Ser)
c.1840G>A (p.Gly614Ser)
c.1783G>A (p.Gly595Ser)
c.1729G>A (p.Gly577Ser)
c.1522G>A (p.Gly508Ser)
c.1936G>A (p.Gly646Ser)
c.1930G>A (p.Gly644Ser)
c.1927G>A (p.Gly643Ser)
c.1987G>A (p.Gly663Ser)
c.1978G>A (p.Gly660Ser)
c.1897G>A (p.Gly633Ser)
c.1846G>A (p.Gly616Ser)
 dbSNP ExAC gnomAD v4
14g.33800135G>CCA389412682NPAS3c.1828G>C (p.Gly610Arg)
c.1837G>C (p.Gly613Arg)
c.1728G>C
c.793+2554G>C
c.1732G>C (p.Gly578Arg)
c.1789G>C (p.Gly597Arg)
c.1738G>C (p.Gly580Arg)
c.1843G>C (p.Gly615Arg)
c.1750G>C (p.Gly584Arg)
c.1849G>C (p.Gly617Arg)
c.1879G>C (p.Gly627Arg)
c.1870G>C (p.Gly624Arg)
c.1840G>C (p.Gly614Arg)
c.1783G>C (p.Gly595Arg)
c.1729G>C (p.Gly577Arg)
c.1522G>C (p.Gly508Arg)
c.1936G>C (p.Gly646Arg)
c.1930G>C (p.Gly644Arg)
c.1927G>C (p.Gly643Arg)
c.1987G>C (p.Gly663Arg)
c.1978G>C (p.Gly660Arg)
c.1897G>C (p.Gly633Arg)
c.1846G>C (p.Gly616Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800135G=CA2128326934NPAS3c.1828G= (p.Gly610=)
c.1837G= (p.Gly613=)
c.1728G=
c.793+2554G=
c.1732G= (p.Gly578=)
c.1789G= (p.Gly597=)
c.1738G= (p.Gly580=)
c.1843G= (p.Gly615=)
c.1750G= (p.Gly584=)
c.1849G= (p.Gly617=)
c.1879G= (p.Gly627=)
c.1870G= (p.Gly624=)
c.1840G= (p.Gly614=)
c.1783G= (p.Gly595=)
c.1729G= (p.Gly577=)
c.1522G= (p.Gly508=)
c.1936G= (p.Gly646=)
c.1930G= (p.Gly644=)
c.1927G= (p.Gly643=)
c.1987G= (p.Gly663=)
c.1978G= (p.Gly660=)
c.1897G= (p.Gly633=)
c.1846G= (p.Gly616=)
14g.33800135G>TCA389412683NPAS3c.1828G>T (p.Gly610Cys)
c.1837G>T (p.Gly613Cys)
c.1728G>T
c.793+2554G>T
c.1732G>T (p.Gly578Cys)
c.1789G>T (p.Gly597Cys)
c.1738G>T (p.Gly580Cys)
c.1843G>T (p.Gly615Cys)
c.1750G>T (p.Gly584Cys)
c.1849G>T (p.Gly617Cys)
c.1879G>T (p.Gly627Cys)
c.1870G>T (p.Gly624Cys)
c.1840G>T (p.Gly614Cys)
c.1783G>T (p.Gly595Cys)
c.1729G>T (p.Gly577Cys)
c.1522G>T (p.Gly508Cys)
c.1936G>T (p.Gly646Cys)
c.1930G>T (p.Gly644Cys)
c.1927G>T (p.Gly643Cys)
c.1987G>T (p.Gly663Cys)
c.1978G>T (p.Gly660Cys)
c.1897G>T (p.Gly633Cys)
c.1846G>T (p.Gly616Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800136G>ACA389412684NPAS3c.1829G>A (p.Gly610Asp)
c.1838G>A (p.Gly613Asp)
c.1729G>A
c.793+2555G>A
c.1733G>A (p.Gly578Asp)
c.1790G>A (p.Gly597Asp)
c.1739G>A (p.Gly580Asp)
c.1844G>A (p.Gly615Asp)
c.1751G>A (p.Gly584Asp)
c.1850G>A (p.Gly617Asp)
c.1880G>A (p.Gly627Asp)
c.1871G>A (p.Gly624Asp)
c.1841G>A (p.Gly614Asp)
c.1784G>A (p.Gly595Asp)
c.1730G>A (p.Gly577Asp)
c.1523G>A (p.Gly508Asp)
c.1937G>A (p.Gly646Asp)
c.1931G>A (p.Gly644Asp)
c.1928G>A (p.Gly643Asp)
c.1988G>A (p.Gly663Asp)
c.1979G>A (p.Gly660Asp)
c.1898G>A (p.Gly633Asp)
c.1847G>A (p.Gly616Asp)
 dbSNP gnomAD v3 gnomAD v4
14g.33800136G>CCA389412685NPAS3c.1829G>C (p.Gly610Ala)
c.1838G>C (p.Gly613Ala)
c.1729G>C
c.793+2555G>C
c.1733G>C (p.Gly578Ala)
c.1790G>C (p.Gly597Ala)
c.1739G>C (p.Gly580Ala)
c.1844G>C (p.Gly615Ala)
c.1751G>C (p.Gly584Ala)
c.1850G>C (p.Gly617Ala)
c.1880G>C (p.Gly627Ala)
c.1871G>C (p.Gly624Ala)
c.1841G>C (p.Gly614Ala)
c.1784G>C (p.Gly595Ala)
c.1730G>C (p.Gly577Ala)
c.1523G>C (p.Gly508Ala)
c.1937G>C (p.Gly646Ala)
c.1931G>C (p.Gly644Ala)
c.1928G>C (p.Gly643Ala)
c.1988G>C (p.Gly663Ala)
c.1979G>C (p.Gly660Ala)
c.1898G>C (p.Gly633Ala)
c.1847G>C (p.Gly616Ala)
14g.33800136G=CA2128326937NPAS3c.1829G= (p.Gly610=)
c.1838G= (p.Gly613=)
c.1729G=
c.793+2555G=
c.1733G= (p.Gly578=)
c.1790G= (p.Gly597=)
c.1739G= (p.Gly580=)
c.1844G= (p.Gly615=)
c.1751G= (p.Gly584=)
c.1850G= (p.Gly617=)
c.1880G= (p.Gly627=)
c.1871G= (p.Gly624=)
c.1841G= (p.Gly614=)
c.1784G= (p.Gly595=)
c.1730G= (p.Gly577=)
c.1523G= (p.Gly508=)
c.1937G= (p.Gly646=)
c.1931G= (p.Gly644=)
c.1928G= (p.Gly643=)
c.1988G= (p.Gly663=)
c.1979G= (p.Gly660=)
c.1898G= (p.Gly633=)
c.1847G= (p.Gly616=)
14g.33800136G>TCA7150888NPAS3c.1829G>T (p.Gly610Val)
c.1838G>T (p.Gly613Val)
c.1729G>T
c.793+2555G>T
c.1733G>T (p.Gly578Val)
c.1790G>T (p.Gly597Val)
c.1739G>T (p.Gly580Val)
c.1844G>T (p.Gly615Val)
c.1751G>T (p.Gly584Val)
c.1850G>T (p.Gly617Val)
c.1880G>T (p.Gly627Val)
c.1871G>T (p.Gly624Val)
c.1841G>T (p.Gly614Val)
c.1784G>T (p.Gly595Val)
c.1730G>T (p.Gly577Val)
c.1523G>T (p.Gly508Val)
c.1937G>T (p.Gly646Val)
c.1931G>T (p.Gly644Val)
c.1928G>T (p.Gly643Val)
c.1988G>T (p.Gly663Val)
c.1979G>T (p.Gly660Val)
c.1898G>T (p.Gly633Val)
c.1847G>T (p.Gly616Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800137C>ACA486092817NPAS3c.1830C>A (p.Gly610=)
c.1839C>A (p.Gly613=)
c.1730C>A
c.793+2556C>A
c.1734C>A (p.Gly578=)
c.1791C>A (p.Gly597=)
c.1740C>A (p.Gly580=)
c.1845C>A (p.Gly615=)
c.1752C>A (p.Gly584=)
c.1851C>A (p.Gly617=)
c.1881C>A (p.Gly627=)
c.1872C>A (p.Gly624=)
c.1842C>A (p.Gly614=)
c.1785C>A (p.Gly595=)
c.1731C>A (p.Gly577=)
c.1524C>A (p.Gly508=)
c.1938C>A (p.Gly646=)
c.1932C>A (p.Gly644=)
c.1929C>A (p.Gly643=)
c.1989C>A (p.Gly663=)
c.1980C>A (p.Gly660=)
c.1899C>A (p.Gly633=)
c.1848C>A (p.Gly616=)
14g.33800137C=CA2128326940NPAS3c.1830C= (p.Gly610=)
c.1839C= (p.Gly613=)
c.1730C=
c.793+2556C=
c.1734C= (p.Gly578=)
c.1791C= (p.Gly597=)
c.1740C= (p.Gly580=)
c.1845C= (p.Gly615=)
c.1752C= (p.Gly584=)
c.1851C= (p.Gly617=)
c.1881C= (p.Gly627=)
c.1872C= (p.Gly624=)
c.1842C= (p.Gly614=)
c.1785C= (p.Gly595=)
c.1731C= (p.Gly577=)
c.1524C= (p.Gly508=)
c.1938C= (p.Gly646=)
c.1932C= (p.Gly644=)
c.1929C= (p.Gly643=)
c.1989C= (p.Gly663=)
c.1980C= (p.Gly660=)
c.1899C= (p.Gly633=)
c.1848C= (p.Gly616=)
14g.33800137C>GCA486092818NPAS3c.1830C>G (p.Gly610=)
c.1839C>G (p.Gly613=)
c.1730C>G
c.793+2556C>G
c.1734C>G (p.Gly578=)
c.1791C>G (p.Gly597=)
c.1740C>G (p.Gly580=)
c.1845C>G (p.Gly615=)
c.1752C>G (p.Gly584=)
c.1851C>G (p.Gly617=)
c.1881C>G (p.Gly627=)
c.1872C>G (p.Gly624=)
c.1842C>G (p.Gly614=)
c.1785C>G (p.Gly595=)
c.1731C>G (p.Gly577=)
c.1524C>G (p.Gly508=)
c.1938C>G (p.Gly646=)
c.1932C>G (p.Gly644=)
c.1929C>G (p.Gly643=)
c.1989C>G (p.Gly663=)
c.1980C>G (p.Gly660=)
c.1899C>G (p.Gly633=)
c.1848C>G (p.Gly616=)
14g.33800137C>TCA486092819NPAS3c.1830C>T (p.Gly610=)
c.1839C>T (p.Gly613=)
c.1730C>T
c.793+2556C>T
c.1734C>T (p.Gly578=)
c.1791C>T (p.Gly597=)
c.1740C>T (p.Gly580=)
c.1845C>T (p.Gly615=)
c.1752C>T (p.Gly584=)
c.1851C>T (p.Gly617=)
c.1881C>T (p.Gly627=)
c.1872C>T (p.Gly624=)
c.1842C>T (p.Gly614=)
c.1785C>T (p.Gly595=)
c.1731C>T (p.Gly577=)
c.1524C>T (p.Gly508=)
c.1938C>T (p.Gly646=)
c.1932C>T (p.Gly644=)
c.1929C>T (p.Gly643=)
c.1989C>T (p.Gly663=)
c.1980C>T (p.Gly660=)
c.1899C>T (p.Gly633=)
c.1848C>T (p.Gly616=)
 dbSNP gnomAD v3 gnomAD v4
14g.33800138A>CCA389412690NPAS3c.1831A>C (p.Ser611Arg)
c.1840A>C (p.Ser614Arg)
c.1731A>C
c.793+2557A>C
c.1735A>C (p.Ser579Arg)
c.1792A>C (p.Ser598Arg)
c.1741A>C (p.Ser581Arg)
c.1846A>C (p.Ser616Arg)
c.1753A>C (p.Ser585Arg)
c.1852A>C (p.Ser618Arg)
c.1882A>C (p.Ser628Arg)
c.1873A>C (p.Ser625Arg)
c.1843A>C (p.Ser615Arg)
c.1786A>C (p.Ser596Arg)
c.1732A>C (p.Ser578Arg)
c.1525A>C (p.Ser509Arg)
c.1939A>C (p.Ser647Arg)
c.1933A>C (p.Ser645Arg)
c.1930A>C (p.Ser644Arg)
c.1990A>C (p.Ser664Arg)
c.1981A>C (p.Ser661Arg)
c.1900A>C (p.Ser634Arg)
c.1849A>C (p.Ser617Arg)
14g.33800138A>GCA389412695NPAS3c.1831A>G (p.Ser611Gly)
c.1840A>G (p.Ser614Gly)
c.1731A>G
c.793+2557A>G
c.1735A>G (p.Ser579Gly)
c.1792A>G (p.Ser598Gly)
c.1741A>G (p.Ser581Gly)
c.1846A>G (p.Ser616Gly)
c.1753A>G (p.Ser585Gly)
c.1852A>G (p.Ser618Gly)
c.1882A>G (p.Ser628Gly)
c.1873A>G (p.Ser625Gly)
c.1843A>G (p.Ser615Gly)
c.1786A>G (p.Ser596Gly)
c.1732A>G (p.Ser578Gly)
c.1525A>G (p.Ser509Gly)
c.1939A>G (p.Ser647Gly)
c.1933A>G (p.Ser645Gly)
c.1930A>G (p.Ser644Gly)
c.1990A>G (p.Ser664Gly)
c.1981A>G (p.Ser661Gly)
c.1900A>G (p.Ser634Gly)
c.1849A>G (p.Ser617Gly)
14g.33800138A>TCA389412701NPAS3c.1831A>T (p.Ser611Cys)
c.1840A>T (p.Ser614Cys)
c.1731A>T
c.793+2557A>T
c.1735A>T (p.Ser579Cys)
c.1792A>T (p.Ser598Cys)
c.1741A>T (p.Ser581Cys)
c.1846A>T (p.Ser616Cys)
c.1753A>T (p.Ser585Cys)
c.1852A>T (p.Ser618Cys)
c.1882A>T (p.Ser628Cys)
c.1873A>T (p.Ser625Cys)
c.1843A>T (p.Ser615Cys)
c.1786A>T (p.Ser596Cys)
c.1732A>T (p.Ser578Cys)
c.1525A>T (p.Ser509Cys)
c.1939A>T (p.Ser647Cys)
c.1933A>T (p.Ser645Cys)
c.1930A>T (p.Ser644Cys)
c.1990A>T (p.Ser664Cys)
c.1981A>T (p.Ser661Cys)
c.1900A>T (p.Ser634Cys)
c.1849A>T (p.Ser617Cys)
14g.33800139G>ACA389412704NPAS3c.1832G>A (p.Ser611Asn)
c.1841G>A (p.Ser614Asn)
c.1732G>A
c.793+2558G>A
c.1736G>A (p.Ser579Asn)
c.1793G>A (p.Ser598Asn)
c.1742G>A (p.Ser581Asn)
c.1847G>A (p.Ser616Asn)
c.1754G>A (p.Ser585Asn)
c.1853G>A (p.Ser618Asn)
c.1883G>A (p.Ser628Asn)
c.1874G>A (p.Ser625Asn)
c.1844G>A (p.Ser615Asn)
c.1787G>A (p.Ser596Asn)
c.1733G>A (p.Ser578Asn)
c.1526G>A (p.Ser509Asn)
c.1940G>A (p.Ser647Asn)
c.1934G>A (p.Ser645Asn)
c.1931G>A (p.Ser644Asn)
c.1991G>A (p.Ser664Asn)
c.1982G>A (p.Ser661Asn)
c.1901G>A (p.Ser634Asn)
c.1850G>A (p.Ser617Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800139G>CCA389412706NPAS3c.1832G>C (p.Ser611Thr)
c.1841G>C (p.Ser614Thr)
c.1732G>C
c.793+2558G>C
c.1736G>C (p.Ser579Thr)
c.1793G>C (p.Ser598Thr)
c.1742G>C (p.Ser581Thr)
c.1847G>C (p.Ser616Thr)
c.1754G>C (p.Ser585Thr)
c.1853G>C (p.Ser618Thr)
c.1883G>C (p.Ser628Thr)
c.1874G>C (p.Ser625Thr)
c.1844G>C (p.Ser615Thr)
c.1787G>C (p.Ser596Thr)
c.1733G>C (p.Ser578Thr)
c.1526G>C (p.Ser509Thr)
c.1940G>C (p.Ser647Thr)
c.1934G>C (p.Ser645Thr)
c.1931G>C (p.Ser644Thr)
c.1991G>C (p.Ser664Thr)
c.1982G>C (p.Ser661Thr)
c.1901G>C (p.Ser634Thr)
c.1850G>C (p.Ser617Thr)
14g.33800139G=CA2128326942NPAS3c.1832G= (p.Ser611=)
c.1841G= (p.Ser614=)
c.1732G=
c.793+2558G=
c.1736G= (p.Ser579=)
c.1793G= (p.Ser598=)
c.1742G= (p.Ser581=)
c.1847G= (p.Ser616=)
c.1754G= (p.Ser585=)
c.1853G= (p.Ser618=)
c.1883G= (p.Ser628=)
c.1874G= (p.Ser625=)
c.1844G= (p.Ser615=)
c.1787G= (p.Ser596=)
c.1733G= (p.Ser578=)
c.1526G= (p.Ser509=)
c.1940G= (p.Ser647=)
c.1934G= (p.Ser645=)
c.1931G= (p.Ser644=)
c.1991G= (p.Ser664=)
c.1982G= (p.Ser661=)
c.1901G= (p.Ser634=)
c.1850G= (p.Ser617=)
14g.33800139G>TCA389412705NPAS3c.1832G>T (p.Ser611Ile)
c.1841G>T (p.Ser614Ile)
c.1732G>T
c.793+2558G>T
c.1736G>T (p.Ser579Ile)
c.1793G>T (p.Ser598Ile)
c.1742G>T (p.Ser581Ile)
c.1847G>T (p.Ser616Ile)
c.1754G>T (p.Ser585Ile)
c.1853G>T (p.Ser618Ile)
c.1883G>T (p.Ser628Ile)
c.1874G>T (p.Ser625Ile)
c.1844G>T (p.Ser615Ile)
c.1787G>T (p.Ser596Ile)
c.1733G>T (p.Ser578Ile)
c.1526G>T (p.Ser509Ile)
c.1940G>T (p.Ser647Ile)
c.1934G>T (p.Ser645Ile)
c.1931G>T (p.Ser644Ile)
c.1991G>T (p.Ser664Ile)
c.1982G>T (p.Ser661Ile)
c.1901G>T (p.Ser634Ile)
c.1850G>T (p.Ser617Ile)
14g.33800140C>ACA389412708NPAS3c.1833C>A (p.Ser611Arg)
c.1842C>A (p.Ser614Arg)
c.1733C>A
c.793+2559C>A
c.1737C>A (p.Ser579Arg)
c.1794C>A (p.Ser598Arg)
c.1743C>A (p.Ser581Arg)
c.1848C>A (p.Ser616Arg)
c.1755C>A (p.Ser585Arg)
c.1854C>A (p.Ser618Arg)
c.1884C>A (p.Ser628Arg)
c.1875C>A (p.Ser625Arg)
c.1845C>A (p.Ser615Arg)
c.1788C>A (p.Ser596Arg)
c.1734C>A (p.Ser578Arg)
c.1527C>A (p.Ser509Arg)
c.1941C>A (p.Ser647Arg)
c.1935C>A (p.Ser645Arg)
c.1932C>A (p.Ser644Arg)
c.1992C>A (p.Ser664Arg)
c.1983C>A (p.Ser661Arg)
c.1902C>A (p.Ser634Arg)
c.1851C>A (p.Ser617Arg)
 gnomAD v4
14g.33800140C=CA2128326946NPAS3c.1833C= (p.Ser611=)
c.1842C= (p.Ser614=)
c.1733C=
c.793+2559C=
c.1737C= (p.Ser579=)
c.1794C= (p.Ser598=)
c.1743C= (p.Ser581=)
c.1848C= (p.Ser616=)
c.1755C= (p.Ser585=)
c.1854C= (p.Ser618=)
c.1884C= (p.Ser628=)
c.1875C= (p.Ser625=)
c.1845C= (p.Ser615=)
c.1788C= (p.Ser596=)
c.1734C= (p.Ser578=)
c.1527C= (p.Ser509=)
c.1941C= (p.Ser647=)
c.1935C= (p.Ser645=)
c.1932C= (p.Ser644=)
c.1992C= (p.Ser664=)
c.1983C= (p.Ser661=)
c.1902C= (p.Ser634=)
c.1851C= (p.Ser617=)
14g.33800140C>GCA389412710NPAS3c.1833C>G (p.Ser611Arg)
c.1842C>G (p.Ser614Arg)
c.1733C>G
c.793+2559C>G
c.1737C>G (p.Ser579Arg)
c.1794C>G (p.Ser598Arg)
c.1743C>G (p.Ser581Arg)
c.1848C>G (p.Ser616Arg)
c.1755C>G (p.Ser585Arg)
c.1854C>G (p.Ser618Arg)
c.1884C>G (p.Ser628Arg)
c.1875C>G (p.Ser625Arg)
c.1845C>G (p.Ser615Arg)
c.1788C>G (p.Ser596Arg)
c.1734C>G (p.Ser578Arg)
c.1527C>G (p.Ser509Arg)
c.1941C>G (p.Ser647Arg)
c.1935C>G (p.Ser645Arg)
c.1932C>G (p.Ser644Arg)
c.1992C>G (p.Ser664Arg)
c.1983C>G (p.Ser661Arg)
c.1902C>G (p.Ser634Arg)
c.1851C>G (p.Ser617Arg)
14g.33800140C>TCA7150889NPAS3c.1833C>T (p.Ser611=)
c.1842C>T (p.Ser614=)
c.1733C>T
c.793+2559C>T
c.1737C>T (p.Ser579=)
c.1794C>T (p.Ser598=)
c.1743C>T (p.Ser581=)
c.1848C>T (p.Ser616=)
c.1755C>T (p.Ser585=)
c.1854C>T (p.Ser618=)
c.1884C>T (p.Ser628=)
c.1875C>T (p.Ser625=)
c.1845C>T (p.Ser615=)
c.1788C>T (p.Ser596=)
c.1734C>T (p.Ser578=)
c.1527C>T (p.Ser509=)
c.1941C>T (p.Ser647=)
c.1935C>T (p.Ser645=)
c.1932C>T (p.Ser644=)
c.1992C>T (p.Ser664=)
c.1983C>T (p.Ser661=)
c.1902C>T (p.Ser634=)
c.1851C>T (p.Ser617=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800141G>ACA7150890NPAS3c.1834G>A (p.Ala612Thr)
c.1843G>A (p.Ala615Thr)
c.1734G>A
c.793+2560G>A
c.1738G>A (p.Ala580Thr)
c.1795G>A (p.Ala599Thr)
c.1744G>A (p.Ala582Thr)
c.1849G>A (p.Ala617Thr)
c.1756G>A (p.Ala586Thr)
c.1855G>A (p.Ala619Thr)
c.1885G>A (p.Ala629Thr)
c.1876G>A (p.Ala626Thr)
c.1846G>A (p.Ala616Thr)
c.1789G>A (p.Ala597Thr)
c.1735G>A (p.Ala579Thr)
c.1528G>A (p.Ala510Thr)
c.1942G>A (p.Ala648Thr)
c.1936G>A (p.Ala646Thr)
c.1933G>A (p.Ala645Thr)
c.1993G>A (p.Ala665Thr)
c.1984G>A (p.Ala662Thr)
c.1903G>A (p.Ala635Thr)
c.1852G>A (p.Ala618Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800141G>CCA389412716NPAS3c.1834G>C (p.Ala612Pro)
c.1843G>C (p.Ala615Pro)
c.1734G>C
c.793+2560G>C
c.1738G>C (p.Ala580Pro)
c.1795G>C (p.Ala599Pro)
c.1744G>C (p.Ala582Pro)
c.1849G>C (p.Ala617Pro)
c.1756G>C (p.Ala586Pro)
c.1855G>C (p.Ala619Pro)
c.1885G>C (p.Ala629Pro)
c.1876G>C (p.Ala626Pro)
c.1846G>C (p.Ala616Pro)
c.1789G>C (p.Ala597Pro)
c.1735G>C (p.Ala579Pro)
c.1528G>C (p.Ala510Pro)
c.1942G>C (p.Ala648Pro)
c.1936G>C (p.Ala646Pro)
c.1933G>C (p.Ala645Pro)
c.1993G>C (p.Ala665Pro)
c.1984G>C (p.Ala662Pro)
c.1903G>C (p.Ala635Pro)
c.1852G>C (p.Ala618Pro)
14g.33800141G=CA2128326948NPAS3c.1834G= (p.Ala612=)
c.1843G= (p.Ala615=)
c.1734G=
c.793+2560G=
c.1738G= (p.Ala580=)
c.1795G= (p.Ala599=)
c.1744G= (p.Ala582=)
c.1849G= (p.Ala617=)
c.1756G= (p.Ala586=)
c.1855G= (p.Ala619=)
c.1885G= (p.Ala629=)
c.1876G= (p.Ala626=)
c.1846G= (p.Ala616=)
c.1789G= (p.Ala597=)
c.1735G= (p.Ala579=)
c.1528G= (p.Ala510=)
c.1942G= (p.Ala648=)
c.1936G= (p.Ala646=)
c.1933G= (p.Ala645=)
c.1993G= (p.Ala665=)
c.1984G= (p.Ala662=)
c.1903G= (p.Ala635=)
c.1852G= (p.Ala618=)
14g.33800141G>TCA389412719NPAS3c.1834G>T (p.Ala612Ser)
c.1843G>T (p.Ala615Ser)
c.1734G>T
c.793+2560G>T
c.1738G>T (p.Ala580Ser)
c.1795G>T (p.Ala599Ser)
c.1744G>T (p.Ala582Ser)
c.1849G>T (p.Ala617Ser)
c.1756G>T (p.Ala586Ser)
c.1855G>T (p.Ala619Ser)
c.1885G>T (p.Ala629Ser)
c.1876G>T (p.Ala626Ser)
c.1846G>T (p.Ala616Ser)
c.1789G>T (p.Ala597Ser)
c.1735G>T (p.Ala579Ser)
c.1528G>T (p.Ala510Ser)
c.1942G>T (p.Ala648Ser)
c.1936G>T (p.Ala646Ser)
c.1933G>T (p.Ala645Ser)
c.1993G>T (p.Ala665Ser)
c.1984G>T (p.Ala662Ser)
c.1903G>T (p.Ala635Ser)
c.1852G>T (p.Ala618Ser)
14g.33800142C>ACA389412721NPAS3c.1835C>A (p.Ala612Asp)
c.1844C>A (p.Ala615Asp)
c.1735C>A
c.793+2561C>A
c.1739C>A (p.Ala580Asp)
c.1796C>A (p.Ala599Asp)
c.1745C>A (p.Ala582Asp)
c.1850C>A (p.Ala617Asp)
c.1757C>A (p.Ala586Asp)
c.1856C>A (p.Ala619Asp)
c.1886C>A (p.Ala629Asp)
c.1877C>A (p.Ala626Asp)
c.1847C>A (p.Ala616Asp)
c.1790C>A (p.Ala597Asp)
c.1736C>A (p.Ala579Asp)
c.1529C>A (p.Ala510Asp)
c.1943C>A (p.Ala648Asp)
c.1937C>A (p.Ala646Asp)
c.1934C>A (p.Ala645Asp)
c.1994C>A (p.Ala665Asp)
c.1985C>A (p.Ala662Asp)
c.1904C>A (p.Ala635Asp)
c.1853C>A (p.Ala618Asp)
14g.33800142C>GCA389412724NPAS3c.1835C>G (p.Ala612Gly)
c.1844C>G (p.Ala615Gly)
c.1735C>G
c.793+2561C>G
c.1739C>G (p.Ala580Gly)
c.1796C>G (p.Ala599Gly)
c.1745C>G (p.Ala582Gly)
c.1850C>G (p.Ala617Gly)
c.1757C>G (p.Ala586Gly)
c.1856C>G (p.Ala619Gly)
c.1886C>G (p.Ala629Gly)
c.1877C>G (p.Ala626Gly)
c.1847C>G (p.Ala616Gly)
c.1790C>G (p.Ala597Gly)
c.1736C>G (p.Ala579Gly)
c.1529C>G (p.Ala510Gly)
c.1943C>G (p.Ala648Gly)
c.1937C>G (p.Ala646Gly)
c.1934C>G (p.Ala645Gly)
c.1994C>G (p.Ala665Gly)
c.1985C>G (p.Ala662Gly)
c.1904C>G (p.Ala635Gly)
c.1853C>G (p.Ala618Gly)
14g.33800142C>TCA389412726NPAS3c.1835C>T (p.Ala612Val)
c.1844C>T (p.Ala615Val)
c.1735C>T
c.793+2561C>T
c.1739C>T (p.Ala580Val)
c.1796C>T (p.Ala599Val)
c.1745C>T (p.Ala582Val)
c.1850C>T (p.Ala617Val)
c.1757C>T (p.Ala586Val)
c.1856C>T (p.Ala619Val)
c.1886C>T (p.Ala629Val)
c.1877C>T (p.Ala626Val)
c.1847C>T (p.Ala616Val)
c.1790C>T (p.Ala597Val)
c.1736C>T (p.Ala579Val)
c.1529C>T (p.Ala510Val)
c.1943C>T (p.Ala648Val)
c.1937C>T (p.Ala646Val)
c.1934C>T (p.Ala645Val)
c.1994C>T (p.Ala665Val)
c.1985C>T (p.Ala662Val)
c.1904C>T (p.Ala635Val)
c.1853C>T (p.Ala618Val)
14g.33800143C>ACA486092825NPAS3c.1836C>A (p.Ala612=)
c.1845C>A (p.Ala615=)
c.1736C>A
c.793+2562C>A
c.1740C>A (p.Ala580=)
c.1797C>A (p.Ala599=)
c.1746C>A (p.Ala582=)
c.1851C>A (p.Ala617=)
c.1758C>A (p.Ala586=)
c.1857C>A (p.Ala619=)
c.1887C>A (p.Ala629=)
c.1878C>A (p.Ala626=)
c.1848C>A (p.Ala616=)
c.1791C>A (p.Ala597=)
c.1737C>A (p.Ala579=)
c.1530C>A (p.Ala510=)
c.1944C>A (p.Ala648=)
c.1938C>A (p.Ala646=)
c.1935C>A (p.Ala645=)
c.1995C>A (p.Ala665=)
c.1986C>A (p.Ala662=)
c.1905C>A (p.Ala635=)
c.1854C>A (p.Ala618=)
14g.33800143C=CA2128326950NPAS3c.1836C= (p.Ala612=)
c.1845C= (p.Ala615=)
c.1736C=
c.793+2562C=
c.1740C= (p.Ala580=)
c.1797C= (p.Ala599=)
c.1746C= (p.Ala582=)
c.1851C= (p.Ala617=)
c.1758C= (p.Ala586=)
c.1857C= (p.Ala619=)
c.1887C= (p.Ala629=)
c.1878C= (p.Ala626=)
c.1848C= (p.Ala616=)
c.1791C= (p.Ala597=)
c.1737C= (p.Ala579=)
c.1530C= (p.Ala510=)
c.1944C= (p.Ala648=)
c.1938C= (p.Ala646=)
c.1935C= (p.Ala645=)
c.1995C= (p.Ala665=)
c.1986C= (p.Ala662=)
c.1905C= (p.Ala635=)
c.1854C= (p.Ala618=)
14g.33800143C>GCA486092826NPAS3c.1836C>G (p.Ala612=)
c.1845C>G (p.Ala615=)
c.1736C>G
c.793+2562C>G
c.1740C>G (p.Ala580=)
c.1797C>G (p.Ala599=)
c.1746C>G (p.Ala582=)
c.1851C>G (p.Ala617=)
c.1758C>G (p.Ala586=)
c.1857C>G (p.Ala619=)
c.1887C>G (p.Ala629=)
c.1878C>G (p.Ala626=)
c.1848C>G (p.Ala616=)
c.1791C>G (p.Ala597=)
c.1737C>G (p.Ala579=)
c.1530C>G (p.Ala510=)
c.1944C>G (p.Ala648=)
c.1938C>G (p.Ala646=)
c.1935C>G (p.Ala645=)
c.1995C>G (p.Ala665=)
c.1986C>G (p.Ala662=)
c.1905C>G (p.Ala635=)
c.1854C>G (p.Ala618=)
14g.33800143C>TCA7150891NPAS3c.1836C>T (p.Ala612=)
c.1845C>T (p.Ala615=)
c.1736C>T
c.793+2562C>T
c.1740C>T (p.Ala580=)
c.1797C>T (p.Ala599=)
c.1746C>T (p.Ala582=)
c.1851C>T (p.Ala617=)
c.1758C>T (p.Ala586=)
c.1857C>T (p.Ala619=)
c.1887C>T (p.Ala629=)
c.1878C>T (p.Ala626=)
c.1848C>T (p.Ala616=)
c.1791C>T (p.Ala597=)
c.1737C>T (p.Ala579=)
c.1530C>T (p.Ala510=)
c.1944C>T (p.Ala648=)
c.1938C>T (p.Ala646=)
c.1935C>T (p.Ala645=)
c.1995C>T (p.Ala665=)
c.1986C>T (p.Ala662=)
c.1905C>T (p.Ala635=)
c.1854C>T (p.Ala618=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800144A=CA2128326953NPAS3c.1837A= (p.Ser613=)
c.1846A= (p.Ser616=)
c.1737A=
c.793+2563A=
c.1741A= (p.Ser581=)
c.1798A= (p.Ser600=)
c.1747A= (p.Ser583=)
c.1852A= (p.Ser618=)
c.1759A= (p.Ser587=)
c.1858A= (p.Ser620=)
c.1888A= (p.Ser630=)
c.1879A= (p.Ser627=)
c.1849A= (p.Ser617=)
c.1792A= (p.Ser598=)
c.1738A= (p.Ser580=)
c.1531A= (p.Ser511=)
c.1945A= (p.Ser649=)
c.1939A= (p.Ser647=)
c.1936A= (p.Ser646=)
c.1996A= (p.Ser666=)
c.1987A= (p.Ser663=)
c.1906A= (p.Ser636=)
c.1855A= (p.Ser619=)
14g.33800144A>CCA389412734NPAS3c.1837A>C (p.Ser613Arg)
c.1846A>C (p.Ser616Arg)
c.1737A>C
c.793+2563A>C
c.1741A>C (p.Ser581Arg)
c.1798A>C (p.Ser600Arg)
c.1747A>C (p.Ser583Arg)
c.1852A>C (p.Ser618Arg)
c.1759A>C (p.Ser587Arg)
c.1858A>C (p.Ser620Arg)
c.1888A>C (p.Ser630Arg)
c.1879A>C (p.Ser627Arg)
c.1849A>C (p.Ser617Arg)
c.1792A>C (p.Ser598Arg)
c.1738A>C (p.Ser580Arg)
c.1531A>C (p.Ser511Arg)
c.1945A>C (p.Ser649Arg)
c.1939A>C (p.Ser647Arg)
c.1936A>C (p.Ser646Arg)
c.1996A>C (p.Ser666Arg)
c.1987A>C (p.Ser663Arg)
c.1906A>C (p.Ser636Arg)
c.1855A>C (p.Ser619Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800144A>GCA389412737NPAS3c.1837A>G (p.Ser613Gly)
c.1846A>G (p.Ser616Gly)
c.1737A>G
c.793+2563A>G
c.1741A>G (p.Ser581Gly)
c.1798A>G (p.Ser600Gly)
c.1747A>G (p.Ser583Gly)
c.1852A>G (p.Ser618Gly)
c.1759A>G (p.Ser587Gly)
c.1858A>G (p.Ser620Gly)
c.1888A>G (p.Ser630Gly)
c.1879A>G (p.Ser627Gly)
c.1849A>G (p.Ser617Gly)
c.1792A>G (p.Ser598Gly)
c.1738A>G (p.Ser580Gly)
c.1531A>G (p.Ser511Gly)
c.1945A>G (p.Ser649Gly)
c.1939A>G (p.Ser647Gly)
c.1936A>G (p.Ser646Gly)
c.1996A>G (p.Ser666Gly)
c.1987A>G (p.Ser663Gly)
c.1906A>G (p.Ser636Gly)
c.1855A>G (p.Ser619Gly)
14g.33800144A>TCA7150892NPAS3c.1837A>T (p.Ser613Cys)
c.1846A>T (p.Ser616Cys)
c.1737A>T
c.793+2563A>T
c.1741A>T (p.Ser581Cys)
c.1798A>T (p.Ser600Cys)
c.1747A>T (p.Ser583Cys)
c.1852A>T (p.Ser618Cys)
c.1759A>T (p.Ser587Cys)
c.1858A>T (p.Ser620Cys)
c.1888A>T (p.Ser630Cys)
c.1879A>T (p.Ser627Cys)
c.1849A>T (p.Ser617Cys)
c.1792A>T (p.Ser598Cys)
c.1738A>T (p.Ser580Cys)
c.1531A>T (p.Ser511Cys)
c.1945A>T (p.Ser649Cys)
c.1939A>T (p.Ser647Cys)
c.1936A>T (p.Ser646Cys)
c.1996A>T (p.Ser666Cys)
c.1987A>T (p.Ser663Cys)
c.1906A>T (p.Ser636Cys)
c.1855A>T (p.Ser619Cys)
 dbSNP ExAC gnomAD v2
14g.33800145G>ACA389412741NPAS3c.1838G>A (p.Ser613Asn)
c.1847G>A (p.Ser616Asn)
c.1738G>A
c.793+2564G>A
c.1742G>A (p.Ser581Asn)
c.1799G>A (p.Ser600Asn)
c.1748G>A (p.Ser583Asn)
c.1853G>A (p.Ser618Asn)
c.1760G>A (p.Ser587Asn)
c.1859G>A (p.Ser620Asn)
c.1889G>A (p.Ser630Asn)
c.1880G>A (p.Ser627Asn)
c.1850G>A (p.Ser617Asn)
c.1793G>A (p.Ser598Asn)
c.1739G>A (p.Ser580Asn)
c.1532G>A (p.Ser511Asn)
c.1946G>A (p.Ser649Asn)
c.1940G>A (p.Ser647Asn)
c.1937G>A (p.Ser646Asn)
c.1997G>A (p.Ser666Asn)
c.1988G>A (p.Ser663Asn)
c.1907G>A (p.Ser636Asn)
c.1856G>A (p.Ser619Asn)
 dbSNP
14g.33800145G>CCA389412743NPAS3c.1838G>C (p.Ser613Thr)
c.1847G>C (p.Ser616Thr)
c.1738G>C
c.793+2564G>C
c.1742G>C (p.Ser581Thr)
c.1799G>C (p.Ser600Thr)
c.1748G>C (p.Ser583Thr)
c.1853G>C (p.Ser618Thr)
c.1760G>C (p.Ser587Thr)
c.1859G>C (p.Ser620Thr)
c.1889G>C (p.Ser630Thr)
c.1880G>C (p.Ser627Thr)
c.1850G>C (p.Ser617Thr)
c.1793G>C (p.Ser598Thr)
c.1739G>C (p.Ser580Thr)
c.1532G>C (p.Ser511Thr)
c.1946G>C (p.Ser649Thr)
c.1940G>C (p.Ser647Thr)
c.1937G>C (p.Ser646Thr)
c.1997G>C (p.Ser666Thr)
c.1988G>C (p.Ser663Thr)
c.1907G>C (p.Ser636Thr)
c.1856G>C (p.Ser619Thr)
 dbSNP COSMIC COSMIC COSMIC
14g.33800145G=CA2128326957NPAS3c.1838G= (p.Ser613=)
c.1847G= (p.Ser616=)
c.1738G=
c.793+2564G=
c.1742G= (p.Ser581=)
c.1799G= (p.Ser600=)
c.1748G= (p.Ser583=)
c.1853G= (p.Ser618=)
c.1760G= (p.Ser587=)
c.1859G= (p.Ser620=)
c.1889G= (p.Ser630=)
c.1880G= (p.Ser627=)
c.1850G= (p.Ser617=)
c.1793G= (p.Ser598=)
c.1739G= (p.Ser580=)
c.1532G= (p.Ser511=)
c.1946G= (p.Ser649=)
c.1940G= (p.Ser647=)
c.1937G= (p.Ser646=)
c.1997G= (p.Ser666=)
c.1988G= (p.Ser663=)
c.1907G= (p.Ser636=)
c.1856G= (p.Ser619=)
14g.33800145G>TCA389412746NPAS3c.1838G>T (p.Ser613Ile)
c.1847G>T (p.Ser616Ile)
c.1738G>T
c.793+2564G>T
c.1742G>T (p.Ser581Ile)
c.1799G>T (p.Ser600Ile)
c.1748G>T (p.Ser583Ile)
c.1853G>T (p.Ser618Ile)
c.1760G>T (p.Ser587Ile)
c.1859G>T (p.Ser620Ile)
c.1889G>T (p.Ser630Ile)
c.1880G>T (p.Ser627Ile)
c.1850G>T (p.Ser617Ile)
c.1793G>T (p.Ser598Ile)
c.1739G>T (p.Ser580Ile)
c.1532G>T (p.Ser511Ile)
c.1946G>T (p.Ser649Ile)
c.1940G>T (p.Ser647Ile)
c.1937G>T (p.Ser646Ile)
c.1997G>T (p.Ser666Ile)
c.1988G>T (p.Ser663Ile)
c.1907G>T (p.Ser636Ile)
c.1856G>T (p.Ser619Ile)
14g.33800146C>ACA389412749NPAS3c.1839C>A (p.Ser613Arg)
c.1848C>A (p.Ser616Arg)
c.1739C>A
c.793+2565C>A
c.1743C>A (p.Ser581Arg)
c.1800C>A (p.Ser600Arg)
c.1749C>A (p.Ser583Arg)
c.1854C>A (p.Ser618Arg)
c.1761C>A (p.Ser587Arg)
c.1860C>A (p.Ser620Arg)
c.1890C>A (p.Ser630Arg)
c.1881C>A (p.Ser627Arg)
c.1851C>A (p.Ser617Arg)
c.1794C>A (p.Ser598Arg)
c.1740C>A (p.Ser580Arg)
c.1533C>A (p.Ser511Arg)
c.1947C>A (p.Ser649Arg)
c.1941C>A (p.Ser647Arg)
c.1938C>A (p.Ser646Arg)
c.1998C>A (p.Ser666Arg)
c.1989C>A (p.Ser663Arg)
c.1908C>A (p.Ser636Arg)
c.1857C>A (p.Ser619Arg)
14g.33800146C>GCA389412752NPAS3c.1839C>G (p.Ser613Arg)
c.1848C>G (p.Ser616Arg)
c.1739C>G
c.793+2565C>G
c.1743C>G (p.Ser581Arg)
c.1800C>G (p.Ser600Arg)
c.1749C>G (p.Ser583Arg)
c.1854C>G (p.Ser618Arg)
c.1761C>G (p.Ser587Arg)
c.1860C>G (p.Ser620Arg)
c.1890C>G (p.Ser630Arg)
c.1881C>G (p.Ser627Arg)
c.1851C>G (p.Ser617Arg)
c.1794C>G (p.Ser598Arg)
c.1740C>G (p.Ser580Arg)
c.1533C>G (p.Ser511Arg)
c.1947C>G (p.Ser649Arg)
c.1941C>G (p.Ser647Arg)
c.1938C>G (p.Ser646Arg)
c.1998C>G (p.Ser666Arg)
c.1989C>G (p.Ser663Arg)
c.1908C>G (p.Ser636Arg)
c.1857C>G (p.Ser619Arg)
14g.33800146C>TCA486092827NPAS3c.1839C>T (p.Ser613=)
c.1848C>T (p.Ser616=)
c.1739C>T
c.793+2565C>T
c.1743C>T (p.Ser581=)
c.1800C>T (p.Ser600=)
c.1749C>T (p.Ser583=)
c.1854C>T (p.Ser618=)
c.1761C>T (p.Ser587=)
c.1860C>T (p.Ser620=)
c.1890C>T (p.Ser630=)
c.1881C>T (p.Ser627=)
c.1851C>T (p.Ser617=)
c.1794C>T (p.Ser598=)
c.1740C>T (p.Ser580=)
c.1533C>T (p.Ser511=)
c.1947C>T (p.Ser649=)
c.1941C>T (p.Ser647=)
c.1938C>T (p.Ser646=)
c.1998C>T (p.Ser666=)
c.1989C>T (p.Ser663=)
c.1908C>T (p.Ser636=)
c.1857C>T (p.Ser619=)
14g.33800147C>ACA7150893NPAS3c.1840C>A (p.Arg614Ser)
c.1849C>A (p.Arg617Ser)
c.1740C>A
c.793+2566C>A
c.1744C>A (p.Arg582Ser)
c.1801C>A (p.Arg601Ser)
c.1750C>A (p.Arg584Ser)
c.1855C>A (p.Arg619Ser)
c.1762C>A (p.Arg588Ser)
c.1861C>A (p.Arg621Ser)
c.1891C>A (p.Arg631Ser)
c.1882C>A (p.Arg628Ser)
c.1852C>A (p.Arg618Ser)
c.1795C>A (p.Arg599Ser)
c.1741C>A (p.Arg581Ser)
c.1534C>A (p.Arg512Ser)
c.1948C>A (p.Arg650Ser)
c.1942C>A (p.Arg648Ser)
c.1939C>A (p.Arg647Ser)
c.1999C>A (p.Arg667Ser)
c.1990C>A (p.Arg664Ser)
c.1909C>A (p.Arg637Ser)
c.1858C>A (p.Arg620Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800147C=CA2128326960NPAS3c.1840C= (p.Arg614=)
c.1849C= (p.Arg617=)
c.1740C=
c.793+2566C=
c.1744C= (p.Arg582=)
c.1801C= (p.Arg601=)
c.1750C= (p.Arg584=)
c.1855C= (p.Arg619=)
c.1762C= (p.Arg588=)
c.1861C= (p.Arg621=)
c.1891C= (p.Arg631=)
c.1882C= (p.Arg628=)
c.1852C= (p.Arg618=)
c.1795C= (p.Arg599=)
c.1741C= (p.Arg581=)
c.1534C= (p.Arg512=)
c.1948C= (p.Arg650=)
c.1942C= (p.Arg648=)
c.1939C= (p.Arg647=)
c.1999C= (p.Arg667=)
c.1990C= (p.Arg664=)
c.1909C= (p.Arg637=)
c.1858C= (p.Arg620=)
14g.33800147C>GCA389412757NPAS3c.1840C>G (p.Arg614Gly)
c.1849C>G (p.Arg617Gly)
c.1740C>G
c.793+2566C>G
c.1744C>G (p.Arg582Gly)
c.1801C>G (p.Arg601Gly)
c.1750C>G (p.Arg584Gly)
c.1855C>G (p.Arg619Gly)
c.1762C>G (p.Arg588Gly)
c.1861C>G (p.Arg621Gly)
c.1891C>G (p.Arg631Gly)
c.1882C>G (p.Arg628Gly)
c.1852C>G (p.Arg618Gly)
c.1795C>G (p.Arg599Gly)
c.1741C>G (p.Arg581Gly)
c.1534C>G (p.Arg512Gly)
c.1948C>G (p.Arg650Gly)
c.1942C>G (p.Arg648Gly)
c.1939C>G (p.Arg647Gly)
c.1999C>G (p.Arg667Gly)
c.1990C>G (p.Arg664Gly)
c.1909C>G (p.Arg637Gly)
c.1858C>G (p.Arg620Gly)
14g.33800147C>TCA389412755NPAS3c.1840C>T (p.Arg614Cys)
c.1849C>T (p.Arg617Cys)
c.1740C>T
c.793+2566C>T
c.1744C>T (p.Arg582Cys)
c.1801C>T (p.Arg601Cys)
c.1750C>T (p.Arg584Cys)
c.1855C>T (p.Arg619Cys)
c.1762C>T (p.Arg588Cys)
c.1861C>T (p.Arg621Cys)
c.1891C>T (p.Arg631Cys)
c.1882C>T (p.Arg628Cys)
c.1852C>T (p.Arg618Cys)
c.1795C>T (p.Arg599Cys)
c.1741C>T (p.Arg581Cys)
c.1534C>T (p.Arg512Cys)
c.1948C>T (p.Arg650Cys)
c.1942C>T (p.Arg648Cys)
c.1939C>T (p.Arg647Cys)
c.1999C>T (p.Arg667Cys)
c.1990C>T (p.Arg664Cys)
c.1909C>T (p.Arg637Cys)
c.1858C>T (p.Arg620Cys)
 gnomAD v4
14g.33800148G>ACA7150894NPAS3c.1841G>A (p.Arg614His)
c.1850G>A (p.Arg617His)
c.1741G>A
c.793+2567G>A
c.1745G>A (p.Arg582His)
c.1802G>A (p.Arg601His)
c.1751G>A (p.Arg584His)
c.1856G>A (p.Arg619His)
c.1763G>A (p.Arg588His)
c.1862G>A (p.Arg621His)
c.1892G>A (p.Arg631His)
c.1883G>A (p.Arg628His)
c.1853G>A (p.Arg618His)
c.1796G>A (p.Arg599His)
c.1742G>A (p.Arg581His)
c.1535G>A (p.Arg512His)
c.1949G>A (p.Arg650His)
c.1943G>A (p.Arg648His)
c.1940G>A (p.Arg647His)
c.2000G>A (p.Arg667His)
c.1991G>A (p.Arg664His)
c.1910G>A (p.Arg637His)
c.1859G>A (p.Arg620His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800148G>CCA389412766NPAS3c.1841G>C (p.Arg614Pro)
c.1850G>C (p.Arg617Pro)
c.1741G>C
c.793+2567G>C
c.1745G>C (p.Arg582Pro)
c.1802G>C (p.Arg601Pro)
c.1751G>C (p.Arg584Pro)
c.1856G>C (p.Arg619Pro)
c.1763G>C (p.Arg588Pro)
c.1862G>C (p.Arg621Pro)
c.1892G>C (p.Arg631Pro)
c.1883G>C (p.Arg628Pro)
c.1853G>C (p.Arg618Pro)
c.1796G>C (p.Arg599Pro)
c.1742G>C (p.Arg581Pro)
c.1535G>C (p.Arg512Pro)
c.1949G>C (p.Arg650Pro)
c.1943G>C (p.Arg648Pro)
c.1940G>C (p.Arg647Pro)
c.2000G>C (p.Arg667Pro)
c.1991G>C (p.Arg664Pro)
c.1910G>C (p.Arg637Pro)
c.1859G>C (p.Arg620Pro)
14g.33800148G=CA2128326963NPAS3c.1841G= (p.Arg614=)
c.1850G= (p.Arg617=)
c.1741G=
c.793+2567G=
c.1745G= (p.Arg582=)
c.1802G= (p.Arg601=)
c.1751G= (p.Arg584=)
c.1856G= (p.Arg619=)
c.1763G= (p.Arg588=)
c.1862G= (p.Arg621=)
c.1892G= (p.Arg631=)
c.1883G= (p.Arg628=)
c.1853G= (p.Arg618=)
c.1796G= (p.Arg599=)
c.1742G= (p.Arg581=)
c.1535G= (p.Arg512=)
c.1949G= (p.Arg650=)
c.1943G= (p.Arg648=)
c.1940G= (p.Arg647=)
c.2000G= (p.Arg667=)
c.1991G= (p.Arg664=)
c.1910G= (p.Arg637=)
c.1859G= (p.Arg620=)
14g.33800148G>TCA389412769NPAS3c.1841G>T (p.Arg614Leu)
c.1850G>T (p.Arg617Leu)
c.1741G>T
c.793+2567G>T
c.1745G>T (p.Arg582Leu)
c.1802G>T (p.Arg601Leu)
c.1751G>T (p.Arg584Leu)
c.1856G>T (p.Arg619Leu)
c.1763G>T (p.Arg588Leu)
c.1862G>T (p.Arg621Leu)
c.1892G>T (p.Arg631Leu)
c.1883G>T (p.Arg628Leu)
c.1853G>T (p.Arg618Leu)
c.1796G>T (p.Arg599Leu)
c.1742G>T (p.Arg581Leu)
c.1535G>T (p.Arg512Leu)
c.1949G>T (p.Arg650Leu)
c.1943G>T (p.Arg648Leu)
c.1940G>T (p.Arg647Leu)
c.2000G>T (p.Arg667Leu)
c.1991G>T (p.Arg664Leu)
c.1910G>T (p.Arg637Leu)
c.1859G>T (p.Arg620Leu)
 dbSNP gnomAD v2 gnomAD v4
14g.33800149C>ACA486092829NPAS3c.1842C>A (p.Arg614=)
c.1851C>A (p.Arg617=)
c.1742C>A
c.793+2568C>A
c.1746C>A (p.Arg582=)
c.1803C>A (p.Arg601=)
c.1752C>A (p.Arg584=)
c.1857C>A (p.Arg619=)
c.1764C>A (p.Arg588=)
c.1863C>A (p.Arg621=)
c.1893C>A (p.Arg631=)
c.1884C>A (p.Arg628=)
c.1854C>A (p.Arg618=)
c.1797C>A (p.Arg599=)
c.1743C>A (p.Arg581=)
c.1536C>A (p.Arg512=)
c.1950C>A (p.Arg650=)
c.1944C>A (p.Arg648=)
c.1941C>A (p.Arg647=)
c.2001C>A (p.Arg667=)
c.1992C>A (p.Arg664=)
c.1911C>A (p.Arg637=)
c.1860C>A (p.Arg620=)
14g.33800149C=CA2128326966NPAS3c.1842C= (p.Arg614=)
c.1851C= (p.Arg617=)
c.1742C=
c.793+2568C=
c.1746C= (p.Arg582=)
c.1803C= (p.Arg601=)
c.1752C= (p.Arg584=)
c.1857C= (p.Arg619=)
c.1764C= (p.Arg588=)
c.1863C= (p.Arg621=)
c.1893C= (p.Arg631=)
c.1884C= (p.Arg628=)
c.1854C= (p.Arg618=)
c.1797C= (p.Arg599=)
c.1743C= (p.Arg581=)
c.1536C= (p.Arg512=)
c.1950C= (p.Arg650=)
c.1944C= (p.Arg648=)
c.1941C= (p.Arg647=)
c.2001C= (p.Arg667=)
c.1992C= (p.Arg664=)
c.1911C= (p.Arg637=)
c.1860C= (p.Arg620=)
14g.33800149C>GCA7150896NPAS3c.1842C>G (p.Arg614=)
c.1851C>G (p.Arg617=)
c.1742C>G
c.793+2568C>G
c.1746C>G (p.Arg582=)
c.1803C>G (p.Arg601=)
c.1752C>G (p.Arg584=)
c.1857C>G (p.Arg619=)
c.1764C>G (p.Arg588=)
c.1863C>G (p.Arg621=)
c.1893C>G (p.Arg631=)
c.1884C>G (p.Arg628=)
c.1854C>G (p.Arg618=)
c.1797C>G (p.Arg599=)
c.1743C>G (p.Arg581=)
c.1536C>G (p.Arg512=)
c.1950C>G (p.Arg650=)
c.1944C>G (p.Arg648=)
c.1941C>G (p.Arg647=)
c.2001C>G (p.Arg667=)
c.1992C>G (p.Arg664=)
c.1911C>G (p.Arg637=)
c.1860C>G (p.Arg620=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800149C>TCA7150895NPAS3c.1842C>T (p.Arg614=)
c.1851C>T (p.Arg617=)
c.1742C>T
c.793+2568C>T
c.1746C>T (p.Arg582=)
c.1803C>T (p.Arg601=)
c.1752C>T (p.Arg584=)
c.1857C>T (p.Arg619=)
c.1764C>T (p.Arg588=)
c.1863C>T (p.Arg621=)
c.1893C>T (p.Arg631=)
c.1884C>T (p.Arg628=)
c.1854C>T (p.Arg618=)
c.1797C>T (p.Arg599=)
c.1743C>T (p.Arg581=)
c.1536C>T (p.Arg512=)
c.1950C>T (p.Arg650=)
c.1944C>T (p.Arg648=)
c.1941C>T (p.Arg647=)
c.2001C>T (p.Arg667=)
c.1992C>T (p.Arg664=)
c.1911C>T (p.Arg637=)
c.1860C>T (p.Arg620=)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched