Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.33800047_33800064del | CA7150863 | NPAS3 | c.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 |
14 | g.33800054_33800059del | CA2128326768 | NPAS3 | c.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 |
14 | g.33800057G>A | CA389412182 | NPAS3 | c.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) | |
14 | g.33800057G>C | CA389412177 | NPAS3 | c.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) | |
14 | g.33800057G>T | CA389412175 | NPAS3 | c.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) | |
14 | g.33800058A= | CA2128326777 | NPAS3 | c.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=) | |
14 | g.33800058A>C | CA389412185 | NPAS3 | c.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) | |
14 | g.33800058A>G | CA389412187 | NPAS3 | c.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 |
14 | g.33800058A>T | CA389412189 | NPAS3 | c.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 |
14 | g.33800059C>A | CA389412192 | NPAS3 | c.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) | |
14 | g.33800059C= | CA2128326779 | NPAS3 | c.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=) | |
14 | g.33800059C>G | CA389412193 | NPAS3 | c.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 |
14 | g.33800059C>T | CA7150868 | NPAS3 | c.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 |
14 | g.33800060A>C | CA389412196 | NPAS3 | c.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) | |
14 | g.33800060A>G | CA389412199 | NPAS3 | c.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) | |
14 | g.33800060A>T | CA389412198 | NPAS3 | c.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) | |
14 | g.33800061G>A | CA389412200 | NPAS3 | c.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 |
14 | g.33800061G>C | CA389412202 | NPAS3 | c.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) | |
14 | g.33800061G>T | CA389412204 | NPAS3 | c.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 |
14 | g.33800062C>A | CA389412206 | NPAS3 | c.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 |
14 | g.33800062C= | CA2128326787 | NPAS3 | c.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=) | |
14 | g.33800062C>G | CA389412209 | NPAS3 | c.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) | |
14 | g.33800062C>T | CA486092961 | NPAS3 | c.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 |
14 | g.33800063G>A | CA7150869 | NPAS3 | c.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 |
14 | g.33800063G>C | CA389412215 | NPAS3 | c.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) | |
14 | g.33800063G= | CA2128326790 | NPAS3 | c.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=) | |
14 | g.33800063G>T | CA389412218 | NPAS3 | c.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 |
14 | g.33800064C>A | CA389412219 | NPAS3 | c.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 |
14 | g.33800064C= | CA2128326792 | NPAS3 | c.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=) | |
14 | g.33800064C>G | CA389412220 | NPAS3 | c.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 |
14 | g.33800064C>T | CA389412221 | NPAS3 | c.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) | |
14 | g.33800065A>C | CA486092963 | NPAS3 | c.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=) | |
14 | g.33800065A>G | CA486092964 | NPAS3 | c.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 |
14 | g.33800065A>T | CA486092965 | NPAS3 | c.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=) | |
14 | g.33800066G>A | CA389412224 | NPAS3 | c.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 |
14 | g.33800066G>C | CA389412226 | NPAS3 | c.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 |
14 | g.33800066G= | CA2128326796 | NPAS3 | c.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=) | |
14 | g.33800066G>T | CA389412223 | NPAS3 | c.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) | |
14 | g.33800067G>A | CA389412231 | NPAS3 | c.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) | |
14 | g.33800067G>C | CA389412238 | NPAS3 | c.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) | |
14 | g.33800067G>T | CA389412237 | NPAS3 | c.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 |
14 | g.33800068C>A | CA486092968 | NPAS3 | c.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 |
14 | g.33800068C= | CA2128326800 | NPAS3 | c.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=) | |
14 | g.33800068C>G | CA486092966 | NPAS3 | c.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 |
14 | g.33800068C>T | CA7150870 | NPAS3 | c.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 |
14 | g.33800069G>A | CA7150871 | NPAS3 | c.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 |
14 | g.33800069G>C | CA7150872 | NPAS3 | c.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 |
14 | g.33800069G= | CA2128326806 | NPAS3 | c.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=) | |
14 | g.33800069G>T | CA389412241 | NPAS3 | c.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) | |
14 | g.33800070A>C | CA389412246 | NPAS3 | c.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) | |
14 | g.33800070A>G | CA389412250 | NPAS3 | c.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) | |
14 | g.33800070A>T | CA389412254 | NPAS3 | c.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) | |
14 | g.33800071G>A | CA486092970 | NPAS3 | c.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 |
14 | g.33800071G>C | CA389412258 | NPAS3 | c.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) | |
14 | g.33800071G= | CA2128326811 | NPAS3 | c.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=) | |
14 | g.33800071G>T | CA389412262 | NPAS3 | c.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) | |
14 | g.33800072G>A | CA389412265 | NPAS3 | c.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) | |
14 | g.33800072G>C | CA389412276 | NPAS3 | c.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) | |
14 | g.33800072G= | CA2128326814 | NPAS3 | c.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=) | |
14 | g.33800072G>T | CA7150873 | NPAS3 | c.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 |
14 | g.33800073C>A | CA7150875 | NPAS3 | c.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 |
14 | g.33800073C= | CA2128326820 | NPAS3 | c.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=) | |
14 | g.33800073C>G | CA7150874 | NPAS3 | c.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 |
14 | g.33800073C>T | CA389412284 | NPAS3 | c.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 |
14 | g.33800074G>A | CA7150876 | NPAS3 | c.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 |
14 | g.33800074G>C | CA486092972 | NPAS3 | c.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=) | |
14 | g.33800074G= | CA2128326824 | NPAS3 | c.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=) | |
14 | g.33800074G>T | CA486092973 | NPAS3 | c.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 |
14 | g.33800075G>A | CA389412293 | NPAS3 | c.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 |
14 | g.33800075G>C | CA389412290 | NPAS3 | c.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 |
14 | g.33800075G= | CA2128326827 | NPAS3 | c.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=) | |
14 | g.33800075G>T | CA389412292 | NPAS3 | c.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 |
14 | g.33800076G>A | CA389412297 | NPAS3 | c.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 |
14 | g.33800076G>C | CA389412299 | NPAS3 | c.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) | |
14 | g.33800076G= | CA2128326831 | NPAS3 | c.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=) | |
14 | g.33800076G>T | CA389412302 | NPAS3 | c.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 |
14 | g.33800080_33800081del | CA2624512026 | NPAS3 | c.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 |
14 | g.33800077C>A | CA486092976 | NPAS3 | c.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 |
14 | g.33800077C= | CA2128326835 | NPAS3 | c.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=) | |
14 | g.33800077C>G | CA486092977 | NPAS3 | c.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 |
14 | g.33800077C>T | CA258718617 | NPAS3 | c.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 |
14 | g.33800078G>A | CA258718621 | NPAS3 | c.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 |
14 | g.33800078G>C | CA389412308 | NPAS3 | c.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 |
14 | g.33800078G= | CA2128326838 | NPAS3 | c.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=) | |
14 | g.33800078G>T | CA389412312 | NPAS3 | c.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 |
14 | g.33800079C>A | CA389412316 | NPAS3 | c.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) | |
14 | g.33800079C= | CA2128326842 | NPAS3 | c.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=) | |
14 | g.33800079C>G | CA389412319 | NPAS3 | c.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) | |
14 | g.33800079C>T | CA7150877 | NPAS3 | c.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 |
14 | g.33800080G>A | CA486092982 | NPAS3 | c.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 |
14 | g.33800080G>C | CA486092979 | NPAS3 | c.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=) | |
14 | g.33800080G= | CA2128326844 | NPAS3 | c.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=) | |
14 | g.33800080G>T | CA486092980 | NPAS3 | c.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 |
14 | g.33800081C>A | CA389412323 | NPAS3 | c.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 |
14 | g.33800081C>G | CA389412325 | NPAS3 | c.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) | |
14 | g.33800081C>T | CA389412328 | NPAS3 | c.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) | |
14 | g.33800082A>C | CA389412331 | NPAS3 | c.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) | |
14 | g.33800082A>G | CA389412333 | NPAS3 | c.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) | |
14 | g.33800082A>T | CA389412332 | NPAS3 | c.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 |
14 | g.33800083G>A | CA486092984 | NPAS3 | c.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 |
14 | g.33800083G>C | CA389412334 | NPAS3 | c.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) | |
14 | g.33800083G= | CA2128326847 | NPAS3 | c.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=) | |
14 | g.33800083G>T | CA389412335 | NPAS3 | c.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 |
14 | g.33800084G>A | CA389412338 | NPAS3 | c.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 |
14 | g.33800084G>C | CA389412341 | NPAS3 | c.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) | |
14 | g.33800084G>T | CA389412344 | NPAS3 | c.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) | |
14 | g.33800085C>A | CA389412345 | NPAS3 | c.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 |
14 | g.33800085C= | CA2128326851 | NPAS3 | c.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=) | |
14 | g.33800085C>G | CA389412346 | NPAS3 | c.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 |
14 | g.33800085C>T | CA389412348 | NPAS3 | c.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) | |
14 | g.33800085_33800086insTTGGTT | CA2801126434 | NPAS3 | c.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) | |
14 | g.33800086C>A | CA486092988 | NPAS3 | c.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 |
14 | g.33800086C= | CA2128326854 | NPAS3 | c.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=) | |
14 | g.33800086C>G | CA486092989 | NPAS3 | c.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=) | |
14 | g.33800086C>T | CA258718622 | NPAS3 | c.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 |
14 | g.33800087T>A | CA389412350 | NPAS3 | c.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 |
14 | g.33800087T>C | CA389412353 | NPAS3 | c.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 |
14 | g.33800087T>G | CA389412356 | NPAS3 | c.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) | |
14 | g.33800087T= | CA2128326857 | NPAS3 | c.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=) | |
14 | g.33800087_33800088insGTGCCCCTCGCTCGGGGATGGCGATGGGGTTGTCGGCACGTCGGTTCCCGGTTTGCCCGGACGCGAGATGAGTCCTGG | CA2801126435 | NPAS3 | c.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) | |
14 | g.33800088C>A | CA389412364 | NPAS3 | c.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 |
14 | g.33800088C>G | CA389412363 | NPAS3 | c.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) | |
14 | g.33800088C>T | CA389412359 | NPAS3 | c.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) | |
14 | g.33800089C>A | CA486092990 | NPAS3 | c.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 |
14 | g.33800089C= | CA2128326860 | NPAS3 | c.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=) | |
14 | g.33800089C>G | CA486092991 | NPAS3 | c.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=) | |
14 | g.33800089C>T | CA486092992 | NPAS3 | c.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=) | |
14 | g.33800090A>C | CA389412365 | NPAS3 | c.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) | |
14 | g.33800090A>G | CA389412366 | NPAS3 | c.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 |
14 | g.33800090A>T | CA389412367 | NPAS3 | c.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) | |
14 | g.33800091G>A | CA389412368 | NPAS3 | c.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) | |
14 | g.33800091G>C | CA389412370 | NPAS3 | c.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) | |
14 | g.33800091G>T | CA389412372 | NPAS3 | c.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) | |
14 | g.33800092C>A | CA389412374 | NPAS3 | c.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 |
14 | g.33800092C>G | CA389412376 | NPAS3 | c.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) | |
14 | g.33800092C>T | CA486092763 | NPAS3 | c.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=) | |
14 | g.33800093A= | CA2128326862 | NPAS3 | c.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=) | |
14 | g.33800093A>C | CA389412378 | NPAS3 | c.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) | |
14 | g.33800093A>G | CA389412381 | NPAS3 | c.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 |
14 | g.33800093A>T | CA389412384 | NPAS3 | c.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) | |
14 | g.33800094A>C | CA389412392 | NPAS3 | c.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) | |
14 | g.33800094A>G | CA389412390 | NPAS3 | c.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) | |
14 | g.33800094A>T | CA389412387 | NPAS3 | c.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) | |
14 | g.33800095G>A | CA486092766 | NPAS3 | c.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 |
14 | g.33800095G>C | CA389412394 | NPAS3 | c.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) | |
14 | g.33800095G>T | CA389412397 | NPAS3 | c.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) | |
14 | g.33800096C>A | CA389412404 | NPAS3 | c.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 |
14 | g.33800096C= | CA2128326864 | NPAS3 | c.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=) | |
14 | g.33800096C>G | CA389412406 | NPAS3 | c.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) | |
14 | g.33800096C>T | CA389412407 | NPAS3 | c.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 |
14 | g.33800097A= | CA2128326866 | NPAS3 | c.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=) | |
14 | g.33800097A>C | CA7150878 | NPAS3 | c.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 |
14 | g.33800097A>G | CA389412411 | NPAS3 | c.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) | |
14 | g.33800097A>T | CA389412414 | NPAS3 | c.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) | |
14 | g.33800098C>A | CA389412417 | NPAS3 | c.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 |
14 | g.33800098C= | CA2128326869 | NPAS3 | c.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=) | |
14 | g.33800098C>G | CA389412420 | NPAS3 | c.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) | |
14 | g.33800098C>T | CA7150879 | NPAS3 | c.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 |
14 | g.33800099C>A | CA389412426 | NPAS3 | c.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) | |
14 | g.33800099C>G | CA389412429 | NPAS3 | c.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) | |
14 | g.33800099C>T | CA389412430 | NPAS3 | c.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) | |
14 | g.33800100A>C | CA389412439 | NPAS3 | c.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) | |
14 | g.33800100A>G | CA389412444 | NPAS3 | c.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 |
14 | g.33800100A>T | CA389412442 | NPAS3 | c.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) | |
14 | g.33800101G>A | CA486092771 | NPAS3 | c.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=) | |
14 | g.33800101G>C | CA389412447 | NPAS3 | c.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) | |
14 | g.33800101G>T | CA389412449 | NPAS3 | c.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) | |
14 | g.33800102A>C | CA389412453 | NPAS3 | c.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) | |
14 | g.33800102A>G | CA389412457 | NPAS3 | c.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) | |
14 | g.33800102A>T | CA389412459 | NPAS3 | c.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) | |
14 | g.33800103A>C | CA389412462 | NPAS3 | c.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) | |
14 | g.33800103A>G | CA389412464 | NPAS3 | c.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) | |
14 | g.33800103A>T | CA389412467 | NPAS3 | c.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 |
14 | g.33800104G>A | CA486092773 | NPAS3 | c.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=) | |
14 | g.33800104G>C | CA389412471 | NPAS3 | c.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) | |
14 | g.33800104G>T | CA389412473 | NPAS3 | c.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) | |
14 | g.33800105C>A | CA389412478 | NPAS3 | c.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 |
14 | g.33800105C= | CA2128326872 | NPAS3 | c.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=) | |
14 | g.33800105C>G | CA389412481 | NPAS3 | c.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 |
14 | g.33800105C>T | CA389412476 | NPAS3 | c.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 |
14 | g.33800106G>A | CA389412484 | NPAS3 | c.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 |
14 | g.33800106G>C | CA389412487 | NPAS3 | c.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 |
14 | g.33800106G= | CA2128326874 | NPAS3 | c.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=) | |
14 | g.33800106G>T | CA389412491 | NPAS3 | c.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 |
14 | g.33800107C>A | CA486092776 | NPAS3 | c.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=) | |
14 | g.33800107C>G | CA486092778 | NPAS3 | c.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=) | |
14 | g.33800107C>T | CA486092779 | NPAS3 | c.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=) | |
14 | g.33800108A>C | CA389412494 | NPAS3 | c.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) | |
14 | g.33800108A>G | CA389412498 | NPAS3 | c.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) | |
14 | g.33800108A>T | CA389412500 | NPAS3 | c.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) | |
14 | g.33800109A>C | CA389412503 | NPAS3 | c.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) | |
14 | g.33800109A>G | CA389412507 | NPAS3 | c.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) | |
14 | g.33800109A>T | CA389412510 | NPAS3 | c.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) | |
14 | g.33800110G>A | CA486092781 | NPAS3 | c.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 |
14 | g.33800110G>C | CA389412512 | NPAS3 | c.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) | |
14 | g.33800110G>T | CA389412514 | NPAS3 | c.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 |
14 | g.33800110_33800111delinsGA | CA2128326879 | NPAS3 | c.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=) | |
14 | g.33800111A>C | CA389412521 | NPAS3 | c.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) | |
14 | g.33800111A>G | CA389412525 | NPAS3 | c.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) | |
14 | g.33800111A>T | CA389412518 | NPAS3 | c.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) | |
14 | g.33800114del | CA613803860 | NPAS3 | c.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 |
14 | g.33800112A>C | CA389412531 | NPAS3 | c.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) | |
14 | g.33800112A>G | CA389412534 | NPAS3 | c.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) | |
14 | g.33800112A>T | CA389412535 | NPAS3 | c.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) | |
14 | g.33800113A>C | CA389412536 | NPAS3 | c.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) | |
14 | g.33800113A>G | CA486092783 | NPAS3 | c.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=) | |
14 | g.33800113A>T | CA389412537 | NPAS3 | c.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) | |
14 | g.33800114A>C | CA486092786 | NPAS3 | c.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=) | |
14 | g.33800114A>G | CA389412542 | NPAS3 | c.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) | |
14 | g.33800114A>T | CA389412539 | NPAS3 | c.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) | |
14 | g.33800115G>A | CA389412544 | NPAS3 | c.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 |
14 | g.33800115G>C | CA389412545 | NPAS3 | c.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) | |
14 | g.33800115G= | CA2128326883 | NPAS3 | c.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=) | |
14 | g.33800115G>T | CA389412546 | NPAS3 | c.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) | |
14 | g.33800116G>A | CA486092789 | NPAS3 | c.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 |
14 | g.33800116G>C | CA389412548 | NPAS3 | c.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) | |
14 | g.33800116G= | CA2128326886 | NPAS3 | c.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=) | |
14 | g.33800116G>T | CA389412549 | NPAS3 | c.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) | |
14 | g.33800117C>A | CA486092790 | NPAS3 | c.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 |
14 | g.33800117C= | CA2128326887 | NPAS3 | c.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=) | |
14 | g.33800117C>G | CA389412552 | NPAS3 | c.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) | |
14 | g.33800117C>T | CA389412555 | NPAS3 | c.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 |
14 | g.33800118G>A | CA7150880 | NPAS3 | c.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 |
14 | g.33800118G>C | CA389412568 | NPAS3 | c.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) | |
14 | g.33800118G= | CA2128326892 | NPAS3 | c.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=) | |
14 | g.33800118G>T | CA389412557 | NPAS3 | c.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) | |
14 | g.33800119G>A | CA486092792 | NPAS3 | c.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 |
14 | g.33800119G>C | CA486092793 | NPAS3 | c.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 |
14 | g.33800119G= | CA2128326894 | NPAS3 | c.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=) | |
14 | g.33800119G>T | CA486092794 | NPAS3 | c.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=) | |
14 | g.33800120A= | CA2128326898 | NPAS3 | c.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=) | |
14 | g.33800120A>C | CA389412576 | NPAS3 | c.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) | |
14 | g.33800120A>G | CA7150881 | NPAS3 | c.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 |
14 | g.33800120A>T | CA389412573 | NPAS3 | c.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) | |
14 | g.33800121A>C | CA389412579 | NPAS3 | c.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) | |
14 | g.33800121A>G | CA389412582 | NPAS3 | c.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) | |
14 | g.33800121A>T | CA389412585 | NPAS3 | c.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) | |
14 | g.33800122A= | CA2128326901 | NPAS3 | c.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=) | |
14 | g.33800122A>C | CA389412588 | NPAS3 | c.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) | |
14 | g.33800122A>G | CA486092798 | NPAS3 | c.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 |
14 | g.33800122A>T | CA389412593 | NPAS3 | c.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) | |
14 | g.33800123C>A | CA486092799 | NPAS3 | c.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 |
14 | g.33800123C= | CA2128326905 | NPAS3 | c.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=) | |
14 | g.33800123C>G | CA389412599 | NPAS3 | c.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) | |
14 | g.33800123C>T | CA389412597 | NPAS3 | c.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 |
14 | g.33800124G>A | CA389412601 | NPAS3 | c.1817G>A (p.Arg606Gln) c.1826G>A (p.Arg609Gln) c.1717G>A c.793+2543G>A c.1721G>A (p.Arg574Gln) c.1778G>A (p.Arg593Gln) c.1727G>A (p.Arg576Gln) c.1832G>A (p.Arg611Gln) c.1739G>A (p.Arg580Gln) c.1838G>A (p.Arg613Gln) c.1868G>A (p.Arg623Gln) c.1859G>A (p.Arg620Gln) c.1829G>A (p.Arg610Gln) c.1772G>A (p.Arg591Gln) c.1718G>A (p.Arg573Gln) c.1511G>A (p.Arg504Gln) c.1925G>A (p.Arg642Gln) c.1919G>A (p.Arg640Gln) c.1916G>A (p.Arg639Gln) c.1976G>A (p.Arg659Gln) c.1967G>A (p.Arg656Gln) c.1886G>A (p.Arg629Gln) c.1835G>A (p.Arg612Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800124G>C | CA7150882 | NPAS3 | c.1817G>C (p.Arg606Pro) c.1826G>C (p.Arg609Pro) c.1717G>C c.793+2543G>C c.1721G>C (p.Arg574Pro) c.1778G>C (p.Arg593Pro) c.1727G>C (p.Arg576Pro) c.1832G>C (p.Arg611Pro) c.1739G>C (p.Arg580Pro) c.1838G>C (p.Arg613Pro) c.1868G>C (p.Arg623Pro) c.1859G>C (p.Arg620Pro) c.1829G>C (p.Arg610Pro) c.1772G>C (p.Arg591Pro) c.1718G>C (p.Arg573Pro) c.1511G>C (p.Arg504Pro) c.1925G>C (p.Arg642Pro) c.1919G>C (p.Arg640Pro) c.1916G>C (p.Arg639Pro) c.1976G>C (p.Arg659Pro) c.1967G>C (p.Arg656Pro) c.1886G>C (p.Arg629Pro) c.1835G>C (p.Arg612Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800124G= | CA2128326908 | NPAS3 | c.1817G= (p.Arg606=) c.1826G= (p.Arg609=) c.1717G= c.793+2543G= c.1721G= (p.Arg574=) c.1778G= (p.Arg593=) c.1727G= (p.Arg576=) c.1832G= (p.Arg611=) c.1739G= (p.Arg580=) c.1838G= (p.Arg613=) c.1868G= (p.Arg623=) c.1859G= (p.Arg620=) c.1829G= (p.Arg610=) c.1772G= (p.Arg591=) c.1718G= (p.Arg573=) c.1511G= (p.Arg504=) c.1925G= (p.Arg642=) c.1919G= (p.Arg640=) c.1916G= (p.Arg639=) c.1976G= (p.Arg659=) c.1967G= (p.Arg656=) c.1886G= (p.Arg629=) c.1835G= (p.Arg612=) | |
14 | g.33800124G>T | CA389412605 | NPAS3 | c.1817G>T (p.Arg606Leu) c.1826G>T (p.Arg609Leu) c.1717G>T c.793+2543G>T c.1721G>T (p.Arg574Leu) c.1778G>T (p.Arg593Leu) c.1727G>T (p.Arg576Leu) c.1832G>T (p.Arg611Leu) c.1739G>T (p.Arg580Leu) c.1838G>T (p.Arg613Leu) c.1868G>T (p.Arg623Leu) c.1859G>T (p.Arg620Leu) c.1829G>T (p.Arg610Leu) c.1772G>T (p.Arg591Leu) c.1718G>T (p.Arg573Leu) c.1511G>T (p.Arg504Leu) c.1925G>T (p.Arg642Leu) c.1919G>T (p.Arg640Leu) c.1916G>T (p.Arg639Leu) c.1976G>T (p.Arg659Leu) c.1967G>T (p.Arg656Leu) c.1886G>T (p.Arg629Leu) c.1835G>T (p.Arg612Leu) | gnomAD v4 |
14 | g.33800125G>A | CA486092801 | NPAS3 | c.1818G>A (p.Arg606=) c.1827G>A (p.Arg609=) c.1718G>A c.793+2544G>A c.1722G>A (p.Arg574=) c.1779G>A (p.Arg593=) c.1728G>A (p.Arg576=) c.1833G>A (p.Arg611=) c.1740G>A (p.Arg580=) c.1839G>A (p.Arg613=) c.1869G>A (p.Arg623=) c.1860G>A (p.Arg620=) c.1830G>A (p.Arg610=) c.1773G>A (p.Arg591=) c.1719G>A (p.Arg573=) c.1512G>A (p.Arg504=) c.1926G>A (p.Arg642=) c.1920G>A (p.Arg640=) c.1917G>A (p.Arg639=) c.1977G>A (p.Arg659=) c.1968G>A (p.Arg656=) c.1887G>A (p.Arg629=) c.1836G>A (p.Arg612=) | gnomAD v4 |
14 | g.33800125G>C | CA486092802 | NPAS3 | c.1818G>C (p.Arg606=) c.1827G>C (p.Arg609=) c.1718G>C c.793+2544G>C c.1722G>C (p.Arg574=) c.1779G>C (p.Arg593=) c.1728G>C (p.Arg576=) c.1833G>C (p.Arg611=) c.1740G>C (p.Arg580=) c.1839G>C (p.Arg613=) c.1869G>C (p.Arg623=) c.1860G>C (p.Arg620=) c.1830G>C (p.Arg610=) c.1773G>C (p.Arg591=) c.1719G>C (p.Arg573=) c.1512G>C (p.Arg504=) c.1926G>C (p.Arg642=) c.1920G>C (p.Arg640=) c.1917G>C (p.Arg639=) c.1977G>C (p.Arg659=) c.1968G>C (p.Arg656=) c.1887G>C (p.Arg629=) c.1836G>C (p.Arg612=) | |
14 | g.33800125G>T | CA486092804 | NPAS3 | c.1818G>T (p.Arg606=) c.1827G>T (p.Arg609=) c.1718G>T c.793+2544G>T c.1722G>T (p.Arg574=) c.1779G>T (p.Arg593=) c.1728G>T (p.Arg576=) c.1833G>T (p.Arg611=) c.1740G>T (p.Arg580=) c.1839G>T (p.Arg613=) c.1869G>T (p.Arg623=) c.1860G>T (p.Arg620=) c.1830G>T (p.Arg610=) c.1773G>T (p.Arg591=) c.1719G>T (p.Arg573=) c.1512G>T (p.Arg504=) c.1926G>T (p.Arg642=) c.1920G>T (p.Arg640=) c.1917G>T (p.Arg639=) c.1977G>T (p.Arg659=) c.1968G>T (p.Arg656=) c.1887G>T (p.Arg629=) c.1836G>T (p.Arg612=) | gnomAD v4 |
14 | g.33800126C>A | CA389412612 | NPAS3 | c.1819C>A (p.Gln607Lys) c.1828C>A (p.Gln610Lys) c.1719C>A c.793+2545C>A c.1723C>A (p.Gln575Lys) c.1780C>A (p.Gln594Lys) c.1729C>A (p.Gln577Lys) c.1834C>A (p.Gln612Lys) c.1741C>A (p.Gln581Lys) c.1840C>A (p.Gln614Lys) c.1870C>A (p.Gln624Lys) c.1861C>A (p.Gln621Lys) c.1831C>A (p.Gln611Lys) c.1774C>A (p.Gln592Lys) c.1720C>A (p.Gln574Lys) c.1513C>A (p.Gln505Lys) c.1927C>A (p.Gln643Lys) c.1921C>A (p.Gln641Lys) c.1918C>A (p.Gln640Lys) c.1978C>A (p.Gln660Lys) c.1969C>A (p.Gln657Lys) c.1888C>A (p.Gln630Lys) c.1837C>A (p.Gln613Lys) | |
14 | g.33800126C>G | CA389412613 | NPAS3 | c.1819C>G (p.Gln607Glu) c.1828C>G (p.Gln610Glu) c.1719C>G c.793+2545C>G c.1723C>G (p.Gln575Glu) c.1780C>G (p.Gln594Glu) c.1729C>G (p.Gln577Glu) c.1834C>G (p.Gln612Glu) c.1741C>G (p.Gln581Glu) c.1840C>G (p.Gln614Glu) c.1870C>G (p.Gln624Glu) c.1861C>G (p.Gln621Glu) c.1831C>G (p.Gln611Glu) c.1774C>G (p.Gln592Glu) c.1720C>G (p.Gln574Glu) c.1513C>G (p.Gln505Glu) c.1927C>G (p.Gln643Glu) c.1921C>G (p.Gln641Glu) c.1918C>G (p.Gln640Glu) c.1978C>G (p.Gln660Glu) c.1969C>G (p.Gln657Glu) c.1888C>G (p.Gln630Glu) c.1837C>G (p.Gln613Glu) | |
14 | g.33800126C>T | CA389412615 | NPAS3 | c.1819C>T (p.Gln607Ter) c.1828C>T (p.Gln610Ter) c.1719C>T c.793+2545C>T c.1723C>T (p.Gln575Ter) c.1780C>T (p.Gln594Ter) c.1729C>T (p.Gln577Ter) c.1834C>T (p.Gln612Ter) c.1741C>T (p.Gln581Ter) c.1840C>T (p.Gln614Ter) c.1870C>T (p.Gln624Ter) c.1861C>T (p.Gln621Ter) c.1831C>T (p.Gln611Ter) c.1774C>T (p.Gln592Ter) c.1720C>T (p.Gln574Ter) c.1513C>T (p.Gln505Ter) c.1927C>T (p.Gln643Ter) c.1921C>T (p.Gln641Ter) c.1918C>T (p.Gln640Ter) c.1978C>T (p.Gln660Ter) c.1969C>T (p.Gln657Ter) c.1888C>T (p.Gln630Ter) c.1837C>T (p.Gln613Ter) | |
14 | g.33800126_33800128delinsCAA | CA2128326912 | NPAS3 | c.1819_1821delinsCAA (p.Gln607=) c.1828_1830delinsCAA (p.Gln610=) c.1719_1721delinsCAA c.793+2545_793+2547delinsCAA c.1723_1725delinsCAA (p.Gln575=) c.1780_1782delinsCAA (p.Gln594=) c.1729_1731delinsCAA (p.Gln577=) c.1834_1836delinsCAA (p.Gln612=) c.1741_1743delinsCAA (p.Gln581=) c.1840_1842delinsCAA (p.Gln614=) c.1870_1872delinsCAA (p.Gln624=) c.1861_1863delinsCAA (p.Gln621=) c.1831_1833delinsCAA (p.Gln611=) c.1774_1776delinsCAA (p.Gln592=) c.1720_1722delinsCAA (p.Gln574=) c.1513_1515delinsCAA (p.Gln505=) c.1927_1929delinsCAA (p.Gln643=) c.1921_1923delinsCAA (p.Gln641=) c.1918_1920delinsCAA (p.Gln640=) c.1978_1980delinsCAA (p.Gln660=) c.1969_1971delinsCAA (p.Gln657=) c.1888_1890delinsCAA (p.Gln630=) c.1837_1839delinsCAA (p.Gln613=) | |
14 | g.33800127A>C | CA389412618 | NPAS3 | c.1820A>C (p.Gln607Pro) c.1829A>C (p.Gln610Pro) c.1720A>C c.793+2546A>C c.1724A>C (p.Gln575Pro) c.1781A>C (p.Gln594Pro) c.1730A>C (p.Gln577Pro) c.1835A>C (p.Gln612Pro) c.1742A>C (p.Gln581Pro) c.1841A>C (p.Gln614Pro) c.1871A>C (p.Gln624Pro) c.1862A>C (p.Gln621Pro) c.1832A>C (p.Gln611Pro) c.1775A>C (p.Gln592Pro) c.1721A>C (p.Gln574Pro) c.1514A>C (p.Gln505Pro) c.1928A>C (p.Gln643Pro) c.1922A>C (p.Gln641Pro) c.1919A>C (p.Gln640Pro) c.1979A>C (p.Gln660Pro) c.1970A>C (p.Gln657Pro) c.1889A>C (p.Gln630Pro) c.1838A>C (p.Gln613Pro) | |
14 | g.33800127A>G | CA389412624 | NPAS3 | c.1820A>G (p.Gln607Arg) c.1829A>G (p.Gln610Arg) c.1720A>G c.793+2546A>G c.1724A>G (p.Gln575Arg) c.1781A>G (p.Gln594Arg) c.1730A>G (p.Gln577Arg) c.1835A>G (p.Gln612Arg) c.1742A>G (p.Gln581Arg) c.1841A>G (p.Gln614Arg) c.1871A>G (p.Gln624Arg) c.1862A>G (p.Gln621Arg) c.1832A>G (p.Gln611Arg) c.1775A>G (p.Gln592Arg) c.1721A>G (p.Gln574Arg) c.1514A>G (p.Gln505Arg) c.1928A>G (p.Gln643Arg) c.1922A>G (p.Gln641Arg) c.1919A>G (p.Gln640Arg) c.1979A>G (p.Gln660Arg) c.1970A>G (p.Gln657Arg) c.1889A>G (p.Gln630Arg) c.1838A>G (p.Gln613Arg) | |
14 | g.33800127A>T | CA389412621 | NPAS3 | c.1820A>T (p.Gln607Leu) c.1829A>T (p.Gln610Leu) c.1720A>T c.793+2546A>T c.1724A>T (p.Gln575Leu) c.1781A>T (p.Gln594Leu) c.1730A>T (p.Gln577Leu) c.1835A>T (p.Gln612Leu) c.1742A>T (p.Gln581Leu) c.1841A>T (p.Gln614Leu) c.1871A>T (p.Gln624Leu) c.1862A>T (p.Gln621Leu) c.1832A>T (p.Gln611Leu) c.1775A>T (p.Gln592Leu) c.1721A>T (p.Gln574Leu) c.1514A>T (p.Gln505Leu) c.1928A>T (p.Gln643Leu) c.1922A>T (p.Gln641Leu) c.1919A>T (p.Gln640Leu) c.1979A>T (p.Gln660Leu) c.1970A>T (p.Gln657Leu) c.1889A>T (p.Gln630Leu) c.1838A>T (p.Gln613Leu) | |
14 | g.33800130del | CA2624512027 | NPAS3 | c.1823del (p.Lys608ArgfsTer?) c.1832del (p.Lys611ArgfsTer?) c.1723del c.793+2549del c.1727del (p.Lys576ArgfsTer?) c.1784del (p.Lys595ArgfsTer?) c.1733del (p.Lys578ArgfsTer?) c.1838del (p.Lys613ArgfsTer?) c.1745del (p.Lys582ArgfsTer?) c.1844del (p.Lys615ArgfsTer?) c.1874del (p.Lys625ArgfsTer?) c.1865del (p.Lys622ArgfsTer?) c.1835del (p.Lys612ArgfsTer?) c.1778del (p.Lys593ArgfsTer?) c.1724del (p.Lys575ArgfsTer?) c.1517del (p.Lys506ArgfsTer?) c.1931del (p.Lys644ArgfsTer?) c.1925del (p.Lys642ArgfsTer?) c.1922del (p.Lys641ArgfsTer?) c.1982del (p.Lys661ArgfsTer?) c.1973del (p.Lys658ArgfsTer?) c.1892del (p.Lys631ArgfsTer?) c.1841del (p.Lys614ArgfsTer?) | gnomAD v4 |
14 | g.33800129_33800130del | CA7150883 | NPAS3 | c.1822_1823del (p.Lys608GlyfsTer?) c.1831_1832del (p.Lys611GlyfsTer?) c.1722_1723del c.793+2548_793+2549del c.1726_1727del (p.Lys576GlyfsTer?) c.1783_1784del (p.Lys595GlyfsTer?) c.1732_1733del (p.Lys578GlyfsTer?) c.1837_1838del (p.Lys613GlyfsTer?) c.1744_1745del (p.Lys582GlyfsTer?) c.1843_1844del (p.Lys615GlyfsTer?) c.1873_1874del (p.Lys625GlyfsTer?) c.1864_1865del (p.Lys622GlyfsTer?) c.1834_1835del (p.Lys612GlyfsTer?) c.1777_1778del (p.Lys593GlyfsTer?) c.1723_1724del (p.Lys575GlyfsTer?) c.1516_1517del (p.Lys506GlyfsTer?) c.1930_1931del (p.Lys644GlyfsTer?) c.1924_1925del (p.Lys642GlyfsTer?) c.1921_1922del (p.Lys641GlyfsTer?) c.1981_1982del (p.Lys661GlyfsTer?) c.1972_1973del (p.Lys658GlyfsTer?) c.1891_1892del (p.Lys631GlyfsTer?) c.1840_1841del (p.Lys614GlyfsTer?) | dbSNP ExAC |
14 | g.33800128A>C | CA389412628 | NPAS3 | c.1821A>C (p.Gln607His) c.1830A>C (p.Gln610His) c.1721A>C c.793+2547A>C c.1725A>C (p.Gln575His) c.1782A>C (p.Gln594His) c.1731A>C (p.Gln577His) c.1836A>C (p.Gln612His) c.1743A>C (p.Gln581His) c.1842A>C (p.Gln614His) c.1872A>C (p.Gln624His) c.1863A>C (p.Gln621His) c.1833A>C (p.Gln611His) c.1776A>C (p.Gln592His) c.1722A>C (p.Gln574His) c.1515A>C (p.Gln505His) c.1929A>C (p.Gln643His) c.1923A>C (p.Gln641His) c.1920A>C (p.Gln640His) c.1980A>C (p.Gln660His) c.1971A>C (p.Gln657His) c.1890A>C (p.Gln630His) c.1839A>C (p.Gln613His) | |
14 | g.33800128A>G | CA486092809 | NPAS3 | c.1821A>G (p.Gln607=) c.1830A>G (p.Gln610=) c.1721A>G c.793+2547A>G c.1725A>G (p.Gln575=) c.1782A>G (p.Gln594=) c.1731A>G (p.Gln577=) c.1836A>G (p.Gln612=) c.1743A>G (p.Gln581=) c.1842A>G (p.Gln614=) c.1872A>G (p.Gln624=) c.1863A>G (p.Gln621=) c.1833A>G (p.Gln611=) c.1776A>G (p.Gln592=) c.1722A>G (p.Gln574=) c.1515A>G (p.Gln505=) c.1929A>G (p.Gln643=) c.1923A>G (p.Gln641=) c.1920A>G (p.Gln640=) c.1980A>G (p.Gln660=) c.1971A>G (p.Gln657=) c.1890A>G (p.Gln630=) c.1839A>G (p.Gln613=) | |
14 | g.33800128A>T | CA389412631 | NPAS3 | c.1821A>T (p.Gln607His) c.1830A>T (p.Gln610His) c.1721A>T c.793+2547A>T c.1725A>T (p.Gln575His) c.1782A>T (p.Gln594His) c.1731A>T (p.Gln577His) c.1836A>T (p.Gln612His) c.1743A>T (p.Gln581His) c.1842A>T (p.Gln614His) c.1872A>T (p.Gln624His) c.1863A>T (p.Gln621His) c.1833A>T (p.Gln611His) c.1776A>T (p.Gln592His) c.1722A>T (p.Gln574His) c.1515A>T (p.Gln505His) c.1929A>T (p.Gln643His) c.1923A>T (p.Gln641His) c.1920A>T (p.Gln640His) c.1980A>T (p.Gln660His) c.1971A>T (p.Gln657His) c.1890A>T (p.Gln630His) c.1839A>T (p.Gln613His) | |
14 | g.33800129A>C | CA389412634 | NPAS3 | c.1822A>C (p.Lys608Gln) c.1831A>C (p.Lys611Gln) c.1722A>C c.793+2548A>C c.1726A>C (p.Lys576Gln) c.1783A>C (p.Lys595Gln) c.1732A>C (p.Lys578Gln) c.1837A>C (p.Lys613Gln) c.1744A>C (p.Lys582Gln) c.1843A>C (p.Lys615Gln) c.1873A>C (p.Lys625Gln) c.1864A>C (p.Lys622Gln) c.1834A>C (p.Lys612Gln) c.1777A>C (p.Lys593Gln) c.1723A>C (p.Lys575Gln) c.1516A>C (p.Lys506Gln) c.1930A>C (p.Lys644Gln) c.1924A>C (p.Lys642Gln) c.1921A>C (p.Lys641Gln) c.1981A>C (p.Lys661Gln) c.1972A>C (p.Lys658Gln) c.1891A>C (p.Lys631Gln) c.1840A>C (p.Lys614Gln) | |
14 | g.33800129A>G | CA389412637 | NPAS3 | c.1822A>G (p.Lys608Glu) c.1831A>G (p.Lys611Glu) c.1722A>G c.793+2548A>G c.1726A>G (p.Lys576Glu) c.1783A>G (p.Lys595Glu) c.1732A>G (p.Lys578Glu) c.1837A>G (p.Lys613Glu) c.1744A>G (p.Lys582Glu) c.1843A>G (p.Lys615Glu) c.1873A>G (p.Lys625Glu) c.1864A>G (p.Lys622Glu) c.1834A>G (p.Lys612Glu) c.1777A>G (p.Lys593Glu) c.1723A>G (p.Lys575Glu) c.1516A>G (p.Lys506Glu) c.1930A>G (p.Lys644Glu) c.1924A>G (p.Lys642Glu) c.1921A>G (p.Lys641Glu) c.1981A>G (p.Lys661Glu) c.1972A>G (p.Lys658Glu) c.1891A>G (p.Lys631Glu) c.1840A>G (p.Lys614Glu) | gnomAD v4 |
14 | g.33800129A>T | CA389412638 | NPAS3 | c.1822A>T (p.Lys608Ter) c.1831A>T (p.Lys611Ter) c.1722A>T c.793+2548A>T c.1726A>T (p.Lys576Ter) c.1783A>T (p.Lys595Ter) c.1732A>T (p.Lys578Ter) c.1837A>T (p.Lys613Ter) c.1744A>T (p.Lys582Ter) c.1843A>T (p.Lys615Ter) c.1873A>T (p.Lys625Ter) c.1864A>T (p.Lys622Ter) c.1834A>T (p.Lys612Ter) c.1777A>T (p.Lys593Ter) c.1723A>T (p.Lys575Ter) c.1516A>T (p.Lys506Ter) c.1930A>T (p.Lys644Ter) c.1924A>T (p.Lys642Ter) c.1921A>T (p.Lys641Ter) c.1981A>T (p.Lys661Ter) c.1972A>T (p.Lys658Ter) c.1891A>T (p.Lys631Ter) c.1840A>T (p.Lys614Ter) | |
14 | g.33800130A>C | CA389412642 | NPAS3 | c.1823A>C (p.Lys608Thr) c.1832A>C (p.Lys611Thr) c.1723A>C c.793+2549A>C c.1727A>C (p.Lys576Thr) c.1784A>C (p.Lys595Thr) c.1733A>C (p.Lys578Thr) c.1838A>C (p.Lys613Thr) c.1745A>C (p.Lys582Thr) c.1844A>C (p.Lys615Thr) c.1874A>C (p.Lys625Thr) c.1865A>C (p.Lys622Thr) c.1835A>C (p.Lys612Thr) c.1778A>C (p.Lys593Thr) c.1724A>C (p.Lys575Thr) c.1517A>C (p.Lys506Thr) c.1931A>C (p.Lys644Thr) c.1925A>C (p.Lys642Thr) c.1922A>C (p.Lys641Thr) c.1982A>C (p.Lys661Thr) c.1973A>C (p.Lys658Thr) c.1892A>C (p.Lys631Thr) c.1841A>C (p.Lys614Thr) | |
14 | g.33800130A>G | CA389412644 | NPAS3 | c.1823A>G (p.Lys608Arg) c.1832A>G (p.Lys611Arg) c.1723A>G c.793+2549A>G c.1727A>G (p.Lys576Arg) c.1784A>G (p.Lys595Arg) c.1733A>G (p.Lys578Arg) c.1838A>G (p.Lys613Arg) c.1745A>G (p.Lys582Arg) c.1844A>G (p.Lys615Arg) c.1874A>G (p.Lys625Arg) c.1865A>G (p.Lys622Arg) c.1835A>G (p.Lys612Arg) c.1778A>G (p.Lys593Arg) c.1724A>G (p.Lys575Arg) c.1517A>G (p.Lys506Arg) c.1931A>G (p.Lys644Arg) c.1925A>G (p.Lys642Arg) c.1922A>G (p.Lys641Arg) c.1982A>G (p.Lys661Arg) c.1973A>G (p.Lys658Arg) c.1892A>G (p.Lys631Arg) c.1841A>G (p.Lys614Arg) | gnomAD v4 |
14 | g.33800130A>T | CA389412649 | NPAS3 | c.1823A>T (p.Lys608Met) c.1832A>T (p.Lys611Met) c.1723A>T c.793+2549A>T c.1727A>T (p.Lys576Met) c.1784A>T (p.Lys595Met) c.1733A>T (p.Lys578Met) c.1838A>T (p.Lys613Met) c.1745A>T (p.Lys582Met) c.1844A>T (p.Lys615Met) c.1874A>T (p.Lys625Met) c.1865A>T (p.Lys622Met) c.1835A>T (p.Lys612Met) c.1778A>T (p.Lys593Met) c.1724A>T (p.Lys575Met) c.1517A>T (p.Lys506Met) c.1931A>T (p.Lys644Met) c.1925A>T (p.Lys642Met) c.1922A>T (p.Lys641Met) c.1982A>T (p.Lys661Met) c.1973A>T (p.Lys658Met) c.1892A>T (p.Lys631Met) c.1841A>T (p.Lys614Met) | |
14 | g.33800131G>A | CA486092811 | NPAS3 | c.1824G>A (p.Lys608=) c.1833G>A (p.Lys611=) c.1724G>A c.793+2550G>A c.1728G>A (p.Lys576=) c.1785G>A (p.Lys595=) c.1734G>A (p.Lys578=) c.1839G>A (p.Lys613=) c.1746G>A (p.Lys582=) c.1845G>A (p.Lys615=) c.1875G>A (p.Lys625=) c.1866G>A (p.Lys622=) c.1836G>A (p.Lys612=) c.1779G>A (p.Lys593=) c.1725G>A (p.Lys575=) c.1518G>A (p.Lys506=) c.1932G>A (p.Lys644=) c.1926G>A (p.Lys642=) c.1923G>A (p.Lys641=) c.1983G>A (p.Lys661=) c.1974G>A (p.Lys658=) c.1893G>A (p.Lys631=) c.1842G>A (p.Lys614=) | gnomAD v4 |
14 | g.33800131G>C | CA389412653 | NPAS3 | c.1824G>C (p.Lys608Asn) c.1833G>C (p.Lys611Asn) c.1724G>C c.793+2550G>C c.1728G>C (p.Lys576Asn) c.1785G>C (p.Lys595Asn) c.1734G>C (p.Lys578Asn) c.1839G>C (p.Lys613Asn) c.1746G>C (p.Lys582Asn) c.1845G>C (p.Lys615Asn) c.1875G>C (p.Lys625Asn) c.1866G>C (p.Lys622Asn) c.1836G>C (p.Lys612Asn) c.1779G>C (p.Lys593Asn) c.1725G>C (p.Lys575Asn) c.1518G>C (p.Lys506Asn) c.1932G>C (p.Lys644Asn) c.1926G>C (p.Lys642Asn) c.1923G>C (p.Lys641Asn) c.1983G>C (p.Lys661Asn) c.1974G>C (p.Lys658Asn) c.1893G>C (p.Lys631Asn) c.1842G>C (p.Lys614Asn) | |
14 | g.33800131G>T | CA389412656 | NPAS3 | c.1824G>T (p.Lys608Asn) c.1833G>T (p.Lys611Asn) c.1724G>T c.793+2550G>T c.1728G>T (p.Lys576Asn) c.1785G>T (p.Lys595Asn) c.1734G>T (p.Lys578Asn) c.1839G>T (p.Lys613Asn) c.1746G>T (p.Lys582Asn) c.1845G>T (p.Lys615Asn) c.1875G>T (p.Lys625Asn) c.1866G>T (p.Lys622Asn) c.1836G>T (p.Lys612Asn) c.1779G>T (p.Lys593Asn) c.1725G>T (p.Lys575Asn) c.1518G>T (p.Lys506Asn) c.1932G>T (p.Lys644Asn) c.1926G>T (p.Lys642Asn) c.1923G>T (p.Lys641Asn) c.1983G>T (p.Lys661Asn) c.1974G>T (p.Lys658Asn) c.1893G>T (p.Lys631Asn) c.1842G>T (p.Lys614Asn) | gnomAD v4 |
14 | g.33800132G>A | CA7150884 | NPAS3 | c.1825G>A (p.Gly609Ser) c.1834G>A (p.Gly612Ser) c.1725G>A c.793+2551G>A c.1729G>A (p.Gly577Ser) c.1786G>A (p.Gly596Ser) c.1735G>A (p.Gly579Ser) c.1840G>A (p.Gly614Ser) c.1747G>A (p.Gly583Ser) c.1846G>A (p.Gly616Ser) c.1876G>A (p.Gly626Ser) c.1867G>A (p.Gly623Ser) c.1837G>A (p.Gly613Ser) c.1780G>A (p.Gly594Ser) c.1726G>A (p.Gly576Ser) c.1519G>A (p.Gly507Ser) c.1933G>A (p.Gly645Ser) c.1927G>A (p.Gly643Ser) c.1924G>A (p.Gly642Ser) c.1984G>A (p.Gly662Ser) c.1975G>A (p.Gly659Ser) c.1894G>A (p.Gly632Ser) c.1843G>A (p.Gly615Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800132G>C | CA389412661 | NPAS3 | c.1825G>C (p.Gly609Arg) c.1834G>C (p.Gly612Arg) c.1725G>C c.793+2551G>C c.1729G>C (p.Gly577Arg) c.1786G>C (p.Gly596Arg) c.1735G>C (p.Gly579Arg) c.1840G>C (p.Gly614Arg) c.1747G>C (p.Gly583Arg) c.1846G>C (p.Gly616Arg) c.1876G>C (p.Gly626Arg) c.1867G>C (p.Gly623Arg) c.1837G>C (p.Gly613Arg) c.1780G>C (p.Gly594Arg) c.1726G>C (p.Gly576Arg) c.1519G>C (p.Gly507Arg) c.1933G>C (p.Gly645Arg) c.1927G>C (p.Gly643Arg) c.1924G>C (p.Gly642Arg) c.1984G>C (p.Gly662Arg) c.1975G>C (p.Gly659Arg) c.1894G>C (p.Gly632Arg) c.1843G>C (p.Gly615Arg) | |
14 | g.33800132G= | CA2128326922 | NPAS3 | c.1825G= (p.Gly609=) c.1834G= (p.Gly612=) c.1725G= c.793+2551G= c.1729G= (p.Gly577=) c.1786G= (p.Gly596=) c.1735G= (p.Gly579=) c.1840G= (p.Gly614=) c.1747G= (p.Gly583=) c.1846G= (p.Gly616=) c.1876G= (p.Gly626=) c.1867G= (p.Gly623=) c.1837G= (p.Gly613=) c.1780G= (p.Gly594=) c.1726G= (p.Gly576=) c.1519G= (p.Gly507=) c.1933G= (p.Gly645=) c.1927G= (p.Gly643=) c.1924G= (p.Gly642=) c.1984G= (p.Gly662=) c.1975G= (p.Gly659=) c.1894G= (p.Gly632=) c.1843G= (p.Gly615=) | |
14 | g.33800132G>T | CA7150885 | NPAS3 | c.1825G>T (p.Gly609Cys) c.1834G>T (p.Gly612Cys) c.1725G>T c.793+2551G>T c.1729G>T (p.Gly577Cys) c.1786G>T (p.Gly596Cys) c.1735G>T (p.Gly579Cys) c.1840G>T (p.Gly614Cys) c.1747G>T (p.Gly583Cys) c.1846G>T (p.Gly616Cys) c.1876G>T (p.Gly626Cys) c.1867G>T (p.Gly623Cys) c.1837G>T (p.Gly613Cys) c.1780G>T (p.Gly594Cys) c.1726G>T (p.Gly576Cys) c.1519G>T (p.Gly507Cys) c.1933G>T (p.Gly645Cys) c.1927G>T (p.Gly643Cys) c.1924G>T (p.Gly642Cys) c.1984G>T (p.Gly662Cys) c.1975G>T (p.Gly659Cys) c.1894G>T (p.Gly632Cys) c.1843G>T (p.Gly615Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800133G>A | CA389412664 | NPAS3 | c.1826G>A (p.Gly609Asp) c.1835G>A (p.Gly612Asp) c.1726G>A c.793+2552G>A c.1730G>A (p.Gly577Asp) c.1787G>A (p.Gly596Asp) c.1736G>A (p.Gly579Asp) c.1841G>A (p.Gly614Asp) c.1748G>A (p.Gly583Asp) c.1847G>A (p.Gly616Asp) c.1877G>A (p.Gly626Asp) c.1868G>A (p.Gly623Asp) c.1838G>A (p.Gly613Asp) c.1781G>A (p.Gly594Asp) c.1727G>A (p.Gly576Asp) c.1520G>A (p.Gly507Asp) c.1934G>A (p.Gly645Asp) c.1928G>A (p.Gly643Asp) c.1925G>A (p.Gly642Asp) c.1985G>A (p.Gly662Asp) c.1976G>A (p.Gly659Asp) c.1895G>A (p.Gly632Asp) c.1844G>A (p.Gly615Asp) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800133G>C | CA389412667 | NPAS3 | c.1826G>C (p.Gly609Ala) c.1835G>C (p.Gly612Ala) c.1726G>C c.793+2552G>C c.1730G>C (p.Gly577Ala) c.1787G>C (p.Gly596Ala) c.1736G>C (p.Gly579Ala) c.1841G>C (p.Gly614Ala) c.1748G>C (p.Gly583Ala) c.1847G>C (p.Gly616Ala) c.1877G>C (p.Gly626Ala) c.1868G>C (p.Gly623Ala) c.1838G>C (p.Gly613Ala) c.1781G>C (p.Gly594Ala) c.1727G>C (p.Gly576Ala) c.1520G>C (p.Gly507Ala) c.1934G>C (p.Gly645Ala) c.1928G>C (p.Gly643Ala) c.1925G>C (p.Gly642Ala) c.1985G>C (p.Gly662Ala) c.1976G>C (p.Gly659Ala) c.1895G>C (p.Gly632Ala) c.1844G>C (p.Gly615Ala) | |
14 | g.33800133G= | CA2128326926 | NPAS3 | c.1826G= (p.Gly609=) c.1835G= (p.Gly612=) c.1726G= c.793+2552G= c.1730G= (p.Gly577=) c.1787G= (p.Gly596=) c.1736G= (p.Gly579=) c.1841G= (p.Gly614=) c.1748G= (p.Gly583=) c.1847G= (p.Gly616=) c.1877G= (p.Gly626=) c.1868G= (p.Gly623=) c.1838G= (p.Gly613=) c.1781G= (p.Gly594=) c.1727G= (p.Gly576=) c.1520G= (p.Gly507=) c.1934G= (p.Gly645=) c.1928G= (p.Gly643=) c.1925G= (p.Gly642=) c.1985G= (p.Gly662=) c.1976G= (p.Gly659=) c.1895G= (p.Gly632=) c.1844G= (p.Gly615=) | |
14 | g.33800133G>T | CA389412673 | NPAS3 | c.1826G>T (p.Gly609Val) c.1835G>T (p.Gly612Val) c.1726G>T c.793+2552G>T c.1730G>T (p.Gly577Val) c.1787G>T (p.Gly596Val) c.1736G>T (p.Gly579Val) c.1841G>T (p.Gly614Val) c.1748G>T (p.Gly583Val) c.1847G>T (p.Gly616Val) c.1877G>T (p.Gly626Val) c.1868G>T (p.Gly623Val) c.1838G>T (p.Gly613Val) c.1781G>T (p.Gly594Val) c.1727G>T (p.Gly576Val) c.1520G>T (p.Gly507Val) c.1934G>T (p.Gly645Val) c.1928G>T (p.Gly643Val) c.1925G>T (p.Gly642Val) c.1985G>T (p.Gly662Val) c.1976G>T (p.Gly659Val) c.1895G>T (p.Gly632Val) c.1844G>T (p.Gly615Val) | |
14 | g.33800134C>A | CA486092814 | NPAS3 | c.1827C>A (p.Gly609=) c.1836C>A (p.Gly612=) c.1727C>A c.793+2553C>A c.1731C>A (p.Gly577=) c.1788C>A (p.Gly596=) c.1737C>A (p.Gly579=) c.1842C>A (p.Gly614=) c.1749C>A (p.Gly583=) c.1848C>A (p.Gly616=) c.1878C>A (p.Gly626=) c.1869C>A (p.Gly623=) c.1839C>A (p.Gly613=) c.1782C>A (p.Gly594=) c.1728C>A (p.Gly576=) c.1521C>A (p.Gly507=) c.1935C>A (p.Gly645=) c.1929C>A (p.Gly643=) c.1926C>A (p.Gly642=) c.1986C>A (p.Gly662=) c.1977C>A (p.Gly659=) c.1896C>A (p.Gly632=) c.1845C>A (p.Gly615=) | dbSNP |
14 | g.33800134C= | CA2128326930 | NPAS3 | c.1827C= (p.Gly609=) c.1836C= (p.Gly612=) c.1727C= c.793+2553C= c.1731C= (p.Gly577=) c.1788C= (p.Gly596=) c.1737C= (p.Gly579=) c.1842C= (p.Gly614=) c.1749C= (p.Gly583=) c.1848C= (p.Gly616=) c.1878C= (p.Gly626=) c.1869C= (p.Gly623=) c.1839C= (p.Gly613=) c.1782C= (p.Gly594=) c.1728C= (p.Gly576=) c.1521C= (p.Gly507=) c.1935C= (p.Gly645=) c.1929C= (p.Gly643=) c.1926C= (p.Gly642=) c.1986C= (p.Gly662=) c.1977C= (p.Gly659=) c.1896C= (p.Gly632=) c.1845C= (p.Gly615=) | |
14 | g.33800134C>G | CA486092815 | NPAS3 | c.1827C>G (p.Gly609=) c.1836C>G (p.Gly612=) c.1727C>G c.793+2553C>G c.1731C>G (p.Gly577=) c.1788C>G (p.Gly596=) c.1737C>G (p.Gly579=) c.1842C>G (p.Gly614=) c.1749C>G (p.Gly583=) c.1848C>G (p.Gly616=) c.1878C>G (p.Gly626=) c.1869C>G (p.Gly623=) c.1839C>G (p.Gly613=) c.1782C>G (p.Gly594=) c.1728C>G (p.Gly576=) c.1521C>G (p.Gly507=) c.1935C>G (p.Gly645=) c.1929C>G (p.Gly643=) c.1926C>G (p.Gly642=) c.1986C>G (p.Gly662=) c.1977C>G (p.Gly659=) c.1896C>G (p.Gly632=) c.1845C>G (p.Gly615=) | |
14 | g.33800134C>T | CA7150886 | NPAS3 | c.1827C>T (p.Gly609=) c.1836C>T (p.Gly612=) c.1727C>T c.793+2553C>T c.1731C>T (p.Gly577=) c.1788C>T (p.Gly596=) c.1737C>T (p.Gly579=) c.1842C>T (p.Gly614=) c.1749C>T (p.Gly583=) c.1848C>T (p.Gly616=) c.1878C>T (p.Gly626=) c.1869C>T (p.Gly623=) c.1839C>T (p.Gly613=) c.1782C>T (p.Gly594=) c.1728C>T (p.Gly576=) c.1521C>T (p.Gly507=) c.1935C>T (p.Gly645=) c.1929C>T (p.Gly643=) c.1926C>T (p.Gly642=) c.1986C>T (p.Gly662=) c.1977C>T (p.Gly659=) c.1896C>T (p.Gly632=) c.1845C>T (p.Gly615=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800135G>A | CA7150887 | NPAS3 | c.1828G>A (p.Gly610Ser) c.1837G>A (p.Gly613Ser) c.1728G>A c.793+2554G>A c.1732G>A (p.Gly578Ser) c.1789G>A (p.Gly597Ser) c.1738G>A (p.Gly580Ser) c.1843G>A (p.Gly615Ser) c.1750G>A (p.Gly584Ser) c.1849G>A (p.Gly617Ser) c.1879G>A (p.Gly627Ser) c.1870G>A (p.Gly624Ser) c.1840G>A (p.Gly614Ser) c.1783G>A (p.Gly595Ser) c.1729G>A (p.Gly577Ser) c.1522G>A (p.Gly508Ser) c.1936G>A (p.Gly646Ser) c.1930G>A (p.Gly644Ser) c.1927G>A (p.Gly643Ser) c.1987G>A (p.Gly663Ser) c.1978G>A (p.Gly660Ser) c.1897G>A (p.Gly633Ser) c.1846G>A (p.Gly616Ser) | dbSNP ExAC gnomAD v4 |
14 | g.33800135G>C | CA389412682 | NPAS3 | c.1828G>C (p.Gly610Arg) c.1837G>C (p.Gly613Arg) c.1728G>C c.793+2554G>C c.1732G>C (p.Gly578Arg) c.1789G>C (p.Gly597Arg) c.1738G>C (p.Gly580Arg) c.1843G>C (p.Gly615Arg) c.1750G>C (p.Gly584Arg) c.1849G>C (p.Gly617Arg) c.1879G>C (p.Gly627Arg) c.1870G>C (p.Gly624Arg) c.1840G>C (p.Gly614Arg) c.1783G>C (p.Gly595Arg) c.1729G>C (p.Gly577Arg) c.1522G>C (p.Gly508Arg) c.1936G>C (p.Gly646Arg) c.1930G>C (p.Gly644Arg) c.1927G>C (p.Gly643Arg) c.1987G>C (p.Gly663Arg) c.1978G>C (p.Gly660Arg) c.1897G>C (p.Gly633Arg) c.1846G>C (p.Gly616Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800135G= | CA2128326934 | NPAS3 | c.1828G= (p.Gly610=) c.1837G= (p.Gly613=) c.1728G= c.793+2554G= c.1732G= (p.Gly578=) c.1789G= (p.Gly597=) c.1738G= (p.Gly580=) c.1843G= (p.Gly615=) c.1750G= (p.Gly584=) c.1849G= (p.Gly617=) c.1879G= (p.Gly627=) c.1870G= (p.Gly624=) c.1840G= (p.Gly614=) c.1783G= (p.Gly595=) c.1729G= (p.Gly577=) c.1522G= (p.Gly508=) c.1936G= (p.Gly646=) c.1930G= (p.Gly644=) c.1927G= (p.Gly643=) c.1987G= (p.Gly663=) c.1978G= (p.Gly660=) c.1897G= (p.Gly633=) c.1846G= (p.Gly616=) | |
14 | g.33800135G>T | CA389412683 | NPAS3 | c.1828G>T (p.Gly610Cys) c.1837G>T (p.Gly613Cys) c.1728G>T c.793+2554G>T c.1732G>T (p.Gly578Cys) c.1789G>T (p.Gly597Cys) c.1738G>T (p.Gly580Cys) c.1843G>T (p.Gly615Cys) c.1750G>T (p.Gly584Cys) c.1849G>T (p.Gly617Cys) c.1879G>T (p.Gly627Cys) c.1870G>T (p.Gly624Cys) c.1840G>T (p.Gly614Cys) c.1783G>T (p.Gly595Cys) c.1729G>T (p.Gly577Cys) c.1522G>T (p.Gly508Cys) c.1936G>T (p.Gly646Cys) c.1930G>T (p.Gly644Cys) c.1927G>T (p.Gly643Cys) c.1987G>T (p.Gly663Cys) c.1978G>T (p.Gly660Cys) c.1897G>T (p.Gly633Cys) c.1846G>T (p.Gly616Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800136G>A | CA389412684 | NPAS3 | c.1829G>A (p.Gly610Asp) c.1838G>A (p.Gly613Asp) c.1729G>A c.793+2555G>A c.1733G>A (p.Gly578Asp) c.1790G>A (p.Gly597Asp) c.1739G>A (p.Gly580Asp) c.1844G>A (p.Gly615Asp) c.1751G>A (p.Gly584Asp) c.1850G>A (p.Gly617Asp) c.1880G>A (p.Gly627Asp) c.1871G>A (p.Gly624Asp) c.1841G>A (p.Gly614Asp) c.1784G>A (p.Gly595Asp) c.1730G>A (p.Gly577Asp) c.1523G>A (p.Gly508Asp) c.1937G>A (p.Gly646Asp) c.1931G>A (p.Gly644Asp) c.1928G>A (p.Gly643Asp) c.1988G>A (p.Gly663Asp) c.1979G>A (p.Gly660Asp) c.1898G>A (p.Gly633Asp) c.1847G>A (p.Gly616Asp) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800136G>C | CA389412685 | NPAS3 | c.1829G>C (p.Gly610Ala) c.1838G>C (p.Gly613Ala) c.1729G>C c.793+2555G>C c.1733G>C (p.Gly578Ala) c.1790G>C (p.Gly597Ala) c.1739G>C (p.Gly580Ala) c.1844G>C (p.Gly615Ala) c.1751G>C (p.Gly584Ala) c.1850G>C (p.Gly617Ala) c.1880G>C (p.Gly627Ala) c.1871G>C (p.Gly624Ala) c.1841G>C (p.Gly614Ala) c.1784G>C (p.Gly595Ala) c.1730G>C (p.Gly577Ala) c.1523G>C (p.Gly508Ala) c.1937G>C (p.Gly646Ala) c.1931G>C (p.Gly644Ala) c.1928G>C (p.Gly643Ala) c.1988G>C (p.Gly663Ala) c.1979G>C (p.Gly660Ala) c.1898G>C (p.Gly633Ala) c.1847G>C (p.Gly616Ala) | |
14 | g.33800136G= | CA2128326937 | NPAS3 | c.1829G= (p.Gly610=) c.1838G= (p.Gly613=) c.1729G= c.793+2555G= c.1733G= (p.Gly578=) c.1790G= (p.Gly597=) c.1739G= (p.Gly580=) c.1844G= (p.Gly615=) c.1751G= (p.Gly584=) c.1850G= (p.Gly617=) c.1880G= (p.Gly627=) c.1871G= (p.Gly624=) c.1841G= (p.Gly614=) c.1784G= (p.Gly595=) c.1730G= (p.Gly577=) c.1523G= (p.Gly508=) c.1937G= (p.Gly646=) c.1931G= (p.Gly644=) c.1928G= (p.Gly643=) c.1988G= (p.Gly663=) c.1979G= (p.Gly660=) c.1898G= (p.Gly633=) c.1847G= (p.Gly616=) | |
14 | g.33800136G>T | CA7150888 | NPAS3 | c.1829G>T (p.Gly610Val) c.1838G>T (p.Gly613Val) c.1729G>T c.793+2555G>T c.1733G>T (p.Gly578Val) c.1790G>T (p.Gly597Val) c.1739G>T (p.Gly580Val) c.1844G>T (p.Gly615Val) c.1751G>T (p.Gly584Val) c.1850G>T (p.Gly617Val) c.1880G>T (p.Gly627Val) c.1871G>T (p.Gly624Val) c.1841G>T (p.Gly614Val) c.1784G>T (p.Gly595Val) c.1730G>T (p.Gly577Val) c.1523G>T (p.Gly508Val) c.1937G>T (p.Gly646Val) c.1931G>T (p.Gly644Val) c.1928G>T (p.Gly643Val) c.1988G>T (p.Gly663Val) c.1979G>T (p.Gly660Val) c.1898G>T (p.Gly633Val) c.1847G>T (p.Gly616Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800137C>A | CA486092817 | NPAS3 | c.1830C>A (p.Gly610=) c.1839C>A (p.Gly613=) c.1730C>A c.793+2556C>A c.1734C>A (p.Gly578=) c.1791C>A (p.Gly597=) c.1740C>A (p.Gly580=) c.1845C>A (p.Gly615=) c.1752C>A (p.Gly584=) c.1851C>A (p.Gly617=) c.1881C>A (p.Gly627=) c.1872C>A (p.Gly624=) c.1842C>A (p.Gly614=) c.1785C>A (p.Gly595=) c.1731C>A (p.Gly577=) c.1524C>A (p.Gly508=) c.1938C>A (p.Gly646=) c.1932C>A (p.Gly644=) c.1929C>A (p.Gly643=) c.1989C>A (p.Gly663=) c.1980C>A (p.Gly660=) c.1899C>A (p.Gly633=) c.1848C>A (p.Gly616=) | |
14 | g.33800137C= | CA2128326940 | NPAS3 | c.1830C= (p.Gly610=) c.1839C= (p.Gly613=) c.1730C= c.793+2556C= c.1734C= (p.Gly578=) c.1791C= (p.Gly597=) c.1740C= (p.Gly580=) c.1845C= (p.Gly615=) c.1752C= (p.Gly584=) c.1851C= (p.Gly617=) c.1881C= (p.Gly627=) c.1872C= (p.Gly624=) c.1842C= (p.Gly614=) c.1785C= (p.Gly595=) c.1731C= (p.Gly577=) c.1524C= (p.Gly508=) c.1938C= (p.Gly646=) c.1932C= (p.Gly644=) c.1929C= (p.Gly643=) c.1989C= (p.Gly663=) c.1980C= (p.Gly660=) c.1899C= (p.Gly633=) c.1848C= (p.Gly616=) | |
14 | g.33800137C>G | CA486092818 | NPAS3 | c.1830C>G (p.Gly610=) c.1839C>G (p.Gly613=) c.1730C>G c.793+2556C>G c.1734C>G (p.Gly578=) c.1791C>G (p.Gly597=) c.1740C>G (p.Gly580=) c.1845C>G (p.Gly615=) c.1752C>G (p.Gly584=) c.1851C>G (p.Gly617=) c.1881C>G (p.Gly627=) c.1872C>G (p.Gly624=) c.1842C>G (p.Gly614=) c.1785C>G (p.Gly595=) c.1731C>G (p.Gly577=) c.1524C>G (p.Gly508=) c.1938C>G (p.Gly646=) c.1932C>G (p.Gly644=) c.1929C>G (p.Gly643=) c.1989C>G (p.Gly663=) c.1980C>G (p.Gly660=) c.1899C>G (p.Gly633=) c.1848C>G (p.Gly616=) | |
14 | g.33800137C>T | CA486092819 | NPAS3 | c.1830C>T (p.Gly610=) c.1839C>T (p.Gly613=) c.1730C>T c.793+2556C>T c.1734C>T (p.Gly578=) c.1791C>T (p.Gly597=) c.1740C>T (p.Gly580=) c.1845C>T (p.Gly615=) c.1752C>T (p.Gly584=) c.1851C>T (p.Gly617=) c.1881C>T (p.Gly627=) c.1872C>T (p.Gly624=) c.1842C>T (p.Gly614=) c.1785C>T (p.Gly595=) c.1731C>T (p.Gly577=) c.1524C>T (p.Gly508=) c.1938C>T (p.Gly646=) c.1932C>T (p.Gly644=) c.1929C>T (p.Gly643=) c.1989C>T (p.Gly663=) c.1980C>T (p.Gly660=) c.1899C>T (p.Gly633=) c.1848C>T (p.Gly616=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800138A>C | CA389412690 | NPAS3 | c.1831A>C (p.Ser611Arg) c.1840A>C (p.Ser614Arg) c.1731A>C c.793+2557A>C c.1735A>C (p.Ser579Arg) c.1792A>C (p.Ser598Arg) c.1741A>C (p.Ser581Arg) c.1846A>C (p.Ser616Arg) c.1753A>C (p.Ser585Arg) c.1852A>C (p.Ser618Arg) c.1882A>C (p.Ser628Arg) c.1873A>C (p.Ser625Arg) c.1843A>C (p.Ser615Arg) c.1786A>C (p.Ser596Arg) c.1732A>C (p.Ser578Arg) c.1525A>C (p.Ser509Arg) c.1939A>C (p.Ser647Arg) c.1933A>C (p.Ser645Arg) c.1930A>C (p.Ser644Arg) c.1990A>C (p.Ser664Arg) c.1981A>C (p.Ser661Arg) c.1900A>C (p.Ser634Arg) c.1849A>C (p.Ser617Arg) | |
14 | g.33800138A>G | CA389412695 | NPAS3 | c.1831A>G (p.Ser611Gly) c.1840A>G (p.Ser614Gly) c.1731A>G c.793+2557A>G c.1735A>G (p.Ser579Gly) c.1792A>G (p.Ser598Gly) c.1741A>G (p.Ser581Gly) c.1846A>G (p.Ser616Gly) c.1753A>G (p.Ser585Gly) c.1852A>G (p.Ser618Gly) c.1882A>G (p.Ser628Gly) c.1873A>G (p.Ser625Gly) c.1843A>G (p.Ser615Gly) c.1786A>G (p.Ser596Gly) c.1732A>G (p.Ser578Gly) c.1525A>G (p.Ser509Gly) c.1939A>G (p.Ser647Gly) c.1933A>G (p.Ser645Gly) c.1930A>G (p.Ser644Gly) c.1990A>G (p.Ser664Gly) c.1981A>G (p.Ser661Gly) c.1900A>G (p.Ser634Gly) c.1849A>G (p.Ser617Gly) | |
14 | g.33800138A>T | CA389412701 | NPAS3 | c.1831A>T (p.Ser611Cys) c.1840A>T (p.Ser614Cys) c.1731A>T c.793+2557A>T c.1735A>T (p.Ser579Cys) c.1792A>T (p.Ser598Cys) c.1741A>T (p.Ser581Cys) c.1846A>T (p.Ser616Cys) c.1753A>T (p.Ser585Cys) c.1852A>T (p.Ser618Cys) c.1882A>T (p.Ser628Cys) c.1873A>T (p.Ser625Cys) c.1843A>T (p.Ser615Cys) c.1786A>T (p.Ser596Cys) c.1732A>T (p.Ser578Cys) c.1525A>T (p.Ser509Cys) c.1939A>T (p.Ser647Cys) c.1933A>T (p.Ser645Cys) c.1930A>T (p.Ser644Cys) c.1990A>T (p.Ser664Cys) c.1981A>T (p.Ser661Cys) c.1900A>T (p.Ser634Cys) c.1849A>T (p.Ser617Cys) | |
14 | g.33800139G>A | CA389412704 | NPAS3 | c.1832G>A (p.Ser611Asn) c.1841G>A (p.Ser614Asn) c.1732G>A c.793+2558G>A c.1736G>A (p.Ser579Asn) c.1793G>A (p.Ser598Asn) c.1742G>A (p.Ser581Asn) c.1847G>A (p.Ser616Asn) c.1754G>A (p.Ser585Asn) c.1853G>A (p.Ser618Asn) c.1883G>A (p.Ser628Asn) c.1874G>A (p.Ser625Asn) c.1844G>A (p.Ser615Asn) c.1787G>A (p.Ser596Asn) c.1733G>A (p.Ser578Asn) c.1526G>A (p.Ser509Asn) c.1940G>A (p.Ser647Asn) c.1934G>A (p.Ser645Asn) c.1931G>A (p.Ser644Asn) c.1991G>A (p.Ser664Asn) c.1982G>A (p.Ser661Asn) c.1901G>A (p.Ser634Asn) c.1850G>A (p.Ser617Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800139G>C | CA389412706 | NPAS3 | c.1832G>C (p.Ser611Thr) c.1841G>C (p.Ser614Thr) c.1732G>C c.793+2558G>C c.1736G>C (p.Ser579Thr) c.1793G>C (p.Ser598Thr) c.1742G>C (p.Ser581Thr) c.1847G>C (p.Ser616Thr) c.1754G>C (p.Ser585Thr) c.1853G>C (p.Ser618Thr) c.1883G>C (p.Ser628Thr) c.1874G>C (p.Ser625Thr) c.1844G>C (p.Ser615Thr) c.1787G>C (p.Ser596Thr) c.1733G>C (p.Ser578Thr) c.1526G>C (p.Ser509Thr) c.1940G>C (p.Ser647Thr) c.1934G>C (p.Ser645Thr) c.1931G>C (p.Ser644Thr) c.1991G>C (p.Ser664Thr) c.1982G>C (p.Ser661Thr) c.1901G>C (p.Ser634Thr) c.1850G>C (p.Ser617Thr) | |
14 | g.33800139G= | CA2128326942 | NPAS3 | c.1832G= (p.Ser611=) c.1841G= (p.Ser614=) c.1732G= c.793+2558G= c.1736G= (p.Ser579=) c.1793G= (p.Ser598=) c.1742G= (p.Ser581=) c.1847G= (p.Ser616=) c.1754G= (p.Ser585=) c.1853G= (p.Ser618=) c.1883G= (p.Ser628=) c.1874G= (p.Ser625=) c.1844G= (p.Ser615=) c.1787G= (p.Ser596=) c.1733G= (p.Ser578=) c.1526G= (p.Ser509=) c.1940G= (p.Ser647=) c.1934G= (p.Ser645=) c.1931G= (p.Ser644=) c.1991G= (p.Ser664=) c.1982G= (p.Ser661=) c.1901G= (p.Ser634=) c.1850G= (p.Ser617=) | |
14 | g.33800139G>T | CA389412705 | NPAS3 | c.1832G>T (p.Ser611Ile) c.1841G>T (p.Ser614Ile) c.1732G>T c.793+2558G>T c.1736G>T (p.Ser579Ile) c.1793G>T (p.Ser598Ile) c.1742G>T (p.Ser581Ile) c.1847G>T (p.Ser616Ile) c.1754G>T (p.Ser585Ile) c.1853G>T (p.Ser618Ile) c.1883G>T (p.Ser628Ile) c.1874G>T (p.Ser625Ile) c.1844G>T (p.Ser615Ile) c.1787G>T (p.Ser596Ile) c.1733G>T (p.Ser578Ile) c.1526G>T (p.Ser509Ile) c.1940G>T (p.Ser647Ile) c.1934G>T (p.Ser645Ile) c.1931G>T (p.Ser644Ile) c.1991G>T (p.Ser664Ile) c.1982G>T (p.Ser661Ile) c.1901G>T (p.Ser634Ile) c.1850G>T (p.Ser617Ile) | |
14 | g.33800140C>A | CA389412708 | NPAS3 | c.1833C>A (p.Ser611Arg) c.1842C>A (p.Ser614Arg) c.1733C>A c.793+2559C>A c.1737C>A (p.Ser579Arg) c.1794C>A (p.Ser598Arg) c.1743C>A (p.Ser581Arg) c.1848C>A (p.Ser616Arg) c.1755C>A (p.Ser585Arg) c.1854C>A (p.Ser618Arg) c.1884C>A (p.Ser628Arg) c.1875C>A (p.Ser625Arg) c.1845C>A (p.Ser615Arg) c.1788C>A (p.Ser596Arg) c.1734C>A (p.Ser578Arg) c.1527C>A (p.Ser509Arg) c.1941C>A (p.Ser647Arg) c.1935C>A (p.Ser645Arg) c.1932C>A (p.Ser644Arg) c.1992C>A (p.Ser664Arg) c.1983C>A (p.Ser661Arg) c.1902C>A (p.Ser634Arg) c.1851C>A (p.Ser617Arg) | gnomAD v4 |
14 | g.33800140C= | CA2128326946 | NPAS3 | c.1833C= (p.Ser611=) c.1842C= (p.Ser614=) c.1733C= c.793+2559C= c.1737C= (p.Ser579=) c.1794C= (p.Ser598=) c.1743C= (p.Ser581=) c.1848C= (p.Ser616=) c.1755C= (p.Ser585=) c.1854C= (p.Ser618=) c.1884C= (p.Ser628=) c.1875C= (p.Ser625=) c.1845C= (p.Ser615=) c.1788C= (p.Ser596=) c.1734C= (p.Ser578=) c.1527C= (p.Ser509=) c.1941C= (p.Ser647=) c.1935C= (p.Ser645=) c.1932C= (p.Ser644=) c.1992C= (p.Ser664=) c.1983C= (p.Ser661=) c.1902C= (p.Ser634=) c.1851C= (p.Ser617=) | |
14 | g.33800140C>G | CA389412710 | NPAS3 | c.1833C>G (p.Ser611Arg) c.1842C>G (p.Ser614Arg) c.1733C>G c.793+2559C>G c.1737C>G (p.Ser579Arg) c.1794C>G (p.Ser598Arg) c.1743C>G (p.Ser581Arg) c.1848C>G (p.Ser616Arg) c.1755C>G (p.Ser585Arg) c.1854C>G (p.Ser618Arg) c.1884C>G (p.Ser628Arg) c.1875C>G (p.Ser625Arg) c.1845C>G (p.Ser615Arg) c.1788C>G (p.Ser596Arg) c.1734C>G (p.Ser578Arg) c.1527C>G (p.Ser509Arg) c.1941C>G (p.Ser647Arg) c.1935C>G (p.Ser645Arg) c.1932C>G (p.Ser644Arg) c.1992C>G (p.Ser664Arg) c.1983C>G (p.Ser661Arg) c.1902C>G (p.Ser634Arg) c.1851C>G (p.Ser617Arg) | |
14 | g.33800140C>T | CA7150889 | NPAS3 | c.1833C>T (p.Ser611=) c.1842C>T (p.Ser614=) c.1733C>T c.793+2559C>T c.1737C>T (p.Ser579=) c.1794C>T (p.Ser598=) c.1743C>T (p.Ser581=) c.1848C>T (p.Ser616=) c.1755C>T (p.Ser585=) c.1854C>T (p.Ser618=) c.1884C>T (p.Ser628=) c.1875C>T (p.Ser625=) c.1845C>T (p.Ser615=) c.1788C>T (p.Ser596=) c.1734C>T (p.Ser578=) c.1527C>T (p.Ser509=) c.1941C>T (p.Ser647=) c.1935C>T (p.Ser645=) c.1932C>T (p.Ser644=) c.1992C>T (p.Ser664=) c.1983C>T (p.Ser661=) c.1902C>T (p.Ser634=) c.1851C>T (p.Ser617=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800141G>A | CA7150890 | NPAS3 | c.1834G>A (p.Ala612Thr) c.1843G>A (p.Ala615Thr) c.1734G>A c.793+2560G>A c.1738G>A (p.Ala580Thr) c.1795G>A (p.Ala599Thr) c.1744G>A (p.Ala582Thr) c.1849G>A (p.Ala617Thr) c.1756G>A (p.Ala586Thr) c.1855G>A (p.Ala619Thr) c.1885G>A (p.Ala629Thr) c.1876G>A (p.Ala626Thr) c.1846G>A (p.Ala616Thr) c.1789G>A (p.Ala597Thr) c.1735G>A (p.Ala579Thr) c.1528G>A (p.Ala510Thr) c.1942G>A (p.Ala648Thr) c.1936G>A (p.Ala646Thr) c.1933G>A (p.Ala645Thr) c.1993G>A (p.Ala665Thr) c.1984G>A (p.Ala662Thr) c.1903G>A (p.Ala635Thr) c.1852G>A (p.Ala618Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800141G>C | CA389412716 | NPAS3 | c.1834G>C (p.Ala612Pro) c.1843G>C (p.Ala615Pro) c.1734G>C c.793+2560G>C c.1738G>C (p.Ala580Pro) c.1795G>C (p.Ala599Pro) c.1744G>C (p.Ala582Pro) c.1849G>C (p.Ala617Pro) c.1756G>C (p.Ala586Pro) c.1855G>C (p.Ala619Pro) c.1885G>C (p.Ala629Pro) c.1876G>C (p.Ala626Pro) c.1846G>C (p.Ala616Pro) c.1789G>C (p.Ala597Pro) c.1735G>C (p.Ala579Pro) c.1528G>C (p.Ala510Pro) c.1942G>C (p.Ala648Pro) c.1936G>C (p.Ala646Pro) c.1933G>C (p.Ala645Pro) c.1993G>C (p.Ala665Pro) c.1984G>C (p.Ala662Pro) c.1903G>C (p.Ala635Pro) c.1852G>C (p.Ala618Pro) | |
14 | g.33800141G= | CA2128326948 | NPAS3 | c.1834G= (p.Ala612=) c.1843G= (p.Ala615=) c.1734G= c.793+2560G= c.1738G= (p.Ala580=) c.1795G= (p.Ala599=) c.1744G= (p.Ala582=) c.1849G= (p.Ala617=) c.1756G= (p.Ala586=) c.1855G= (p.Ala619=) c.1885G= (p.Ala629=) c.1876G= (p.Ala626=) c.1846G= (p.Ala616=) c.1789G= (p.Ala597=) c.1735G= (p.Ala579=) c.1528G= (p.Ala510=) c.1942G= (p.Ala648=) c.1936G= (p.Ala646=) c.1933G= (p.Ala645=) c.1993G= (p.Ala665=) c.1984G= (p.Ala662=) c.1903G= (p.Ala635=) c.1852G= (p.Ala618=) | |
14 | g.33800141G>T | CA389412719 | NPAS3 | c.1834G>T (p.Ala612Ser) c.1843G>T (p.Ala615Ser) c.1734G>T c.793+2560G>T c.1738G>T (p.Ala580Ser) c.1795G>T (p.Ala599Ser) c.1744G>T (p.Ala582Ser) c.1849G>T (p.Ala617Ser) c.1756G>T (p.Ala586Ser) c.1855G>T (p.Ala619Ser) c.1885G>T (p.Ala629Ser) c.1876G>T (p.Ala626Ser) c.1846G>T (p.Ala616Ser) c.1789G>T (p.Ala597Ser) c.1735G>T (p.Ala579Ser) c.1528G>T (p.Ala510Ser) c.1942G>T (p.Ala648Ser) c.1936G>T (p.Ala646Ser) c.1933G>T (p.Ala645Ser) c.1993G>T (p.Ala665Ser) c.1984G>T (p.Ala662Ser) c.1903G>T (p.Ala635Ser) c.1852G>T (p.Ala618Ser) | |
14 | g.33800142C>A | CA389412721 | NPAS3 | c.1835C>A (p.Ala612Asp) c.1844C>A (p.Ala615Asp) c.1735C>A c.793+2561C>A c.1739C>A (p.Ala580Asp) c.1796C>A (p.Ala599Asp) c.1745C>A (p.Ala582Asp) c.1850C>A (p.Ala617Asp) c.1757C>A (p.Ala586Asp) c.1856C>A (p.Ala619Asp) c.1886C>A (p.Ala629Asp) c.1877C>A (p.Ala626Asp) c.1847C>A (p.Ala616Asp) c.1790C>A (p.Ala597Asp) c.1736C>A (p.Ala579Asp) c.1529C>A (p.Ala510Asp) c.1943C>A (p.Ala648Asp) c.1937C>A (p.Ala646Asp) c.1934C>A (p.Ala645Asp) c.1994C>A (p.Ala665Asp) c.1985C>A (p.Ala662Asp) c.1904C>A (p.Ala635Asp) c.1853C>A (p.Ala618Asp) | |
14 | g.33800142C>G | CA389412724 | NPAS3 | c.1835C>G (p.Ala612Gly) c.1844C>G (p.Ala615Gly) c.1735C>G c.793+2561C>G c.1739C>G (p.Ala580Gly) c.1796C>G (p.Ala599Gly) c.1745C>G (p.Ala582Gly) c.1850C>G (p.Ala617Gly) c.1757C>G (p.Ala586Gly) c.1856C>G (p.Ala619Gly) c.1886C>G (p.Ala629Gly) c.1877C>G (p.Ala626Gly) c.1847C>G (p.Ala616Gly) c.1790C>G (p.Ala597Gly) c.1736C>G (p.Ala579Gly) c.1529C>G (p.Ala510Gly) c.1943C>G (p.Ala648Gly) c.1937C>G (p.Ala646Gly) c.1934C>G (p.Ala645Gly) c.1994C>G (p.Ala665Gly) c.1985C>G (p.Ala662Gly) c.1904C>G (p.Ala635Gly) c.1853C>G (p.Ala618Gly) | |
14 | g.33800142C>T | CA389412726 | NPAS3 | c.1835C>T (p.Ala612Val) c.1844C>T (p.Ala615Val) c.1735C>T c.793+2561C>T c.1739C>T (p.Ala580Val) c.1796C>T (p.Ala599Val) c.1745C>T (p.Ala582Val) c.1850C>T (p.Ala617Val) c.1757C>T (p.Ala586Val) c.1856C>T (p.Ala619Val) c.1886C>T (p.Ala629Val) c.1877C>T (p.Ala626Val) c.1847C>T (p.Ala616Val) c.1790C>T (p.Ala597Val) c.1736C>T (p.Ala579Val) c.1529C>T (p.Ala510Val) c.1943C>T (p.Ala648Val) c.1937C>T (p.Ala646Val) c.1934C>T (p.Ala645Val) c.1994C>T (p.Ala665Val) c.1985C>T (p.Ala662Val) c.1904C>T (p.Ala635Val) c.1853C>T (p.Ala618Val) | |
14 | g.33800143C>A | CA486092825 | NPAS3 | c.1836C>A (p.Ala612=) c.1845C>A (p.Ala615=) c.1736C>A c.793+2562C>A c.1740C>A (p.Ala580=) c.1797C>A (p.Ala599=) c.1746C>A (p.Ala582=) c.1851C>A (p.Ala617=) c.1758C>A (p.Ala586=) c.1857C>A (p.Ala619=) c.1887C>A (p.Ala629=) c.1878C>A (p.Ala626=) c.1848C>A (p.Ala616=) c.1791C>A (p.Ala597=) c.1737C>A (p.Ala579=) c.1530C>A (p.Ala510=) c.1944C>A (p.Ala648=) c.1938C>A (p.Ala646=) c.1935C>A (p.Ala645=) c.1995C>A (p.Ala665=) c.1986C>A (p.Ala662=) c.1905C>A (p.Ala635=) c.1854C>A (p.Ala618=) | |
14 | g.33800143C= | CA2128326950 | NPAS3 | c.1836C= (p.Ala612=) c.1845C= (p.Ala615=) c.1736C= c.793+2562C= c.1740C= (p.Ala580=) c.1797C= (p.Ala599=) c.1746C= (p.Ala582=) c.1851C= (p.Ala617=) c.1758C= (p.Ala586=) c.1857C= (p.Ala619=) c.1887C= (p.Ala629=) c.1878C= (p.Ala626=) c.1848C= (p.Ala616=) c.1791C= (p.Ala597=) c.1737C= (p.Ala579=) c.1530C= (p.Ala510=) c.1944C= (p.Ala648=) c.1938C= (p.Ala646=) c.1935C= (p.Ala645=) c.1995C= (p.Ala665=) c.1986C= (p.Ala662=) c.1905C= (p.Ala635=) c.1854C= (p.Ala618=) | |
14 | g.33800143C>G | CA486092826 | NPAS3 | c.1836C>G (p.Ala612=) c.1845C>G (p.Ala615=) c.1736C>G c.793+2562C>G c.1740C>G (p.Ala580=) c.1797C>G (p.Ala599=) c.1746C>G (p.Ala582=) c.1851C>G (p.Ala617=) c.1758C>G (p.Ala586=) c.1857C>G (p.Ala619=) c.1887C>G (p.Ala629=) c.1878C>G (p.Ala626=) c.1848C>G (p.Ala616=) c.1791C>G (p.Ala597=) c.1737C>G (p.Ala579=) c.1530C>G (p.Ala510=) c.1944C>G (p.Ala648=) c.1938C>G (p.Ala646=) c.1935C>G (p.Ala645=) c.1995C>G (p.Ala665=) c.1986C>G (p.Ala662=) c.1905C>G (p.Ala635=) c.1854C>G (p.Ala618=) | |
14 | g.33800143C>T | CA7150891 | NPAS3 | c.1836C>T (p.Ala612=) c.1845C>T (p.Ala615=) c.1736C>T c.793+2562C>T c.1740C>T (p.Ala580=) c.1797C>T (p.Ala599=) c.1746C>T (p.Ala582=) c.1851C>T (p.Ala617=) c.1758C>T (p.Ala586=) c.1857C>T (p.Ala619=) c.1887C>T (p.Ala629=) c.1878C>T (p.Ala626=) c.1848C>T (p.Ala616=) c.1791C>T (p.Ala597=) c.1737C>T (p.Ala579=) c.1530C>T (p.Ala510=) c.1944C>T (p.Ala648=) c.1938C>T (p.Ala646=) c.1935C>T (p.Ala645=) c.1995C>T (p.Ala665=) c.1986C>T (p.Ala662=) c.1905C>T (p.Ala635=) c.1854C>T (p.Ala618=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800144A= | CA2128326953 | NPAS3 | c.1837A= (p.Ser613=) c.1846A= (p.Ser616=) c.1737A= c.793+2563A= c.1741A= (p.Ser581=) c.1798A= (p.Ser600=) c.1747A= (p.Ser583=) c.1852A= (p.Ser618=) c.1759A= (p.Ser587=) c.1858A= (p.Ser620=) c.1888A= (p.Ser630=) c.1879A= (p.Ser627=) c.1849A= (p.Ser617=) c.1792A= (p.Ser598=) c.1738A= (p.Ser580=) c.1531A= (p.Ser511=) c.1945A= (p.Ser649=) c.1939A= (p.Ser647=) c.1936A= (p.Ser646=) c.1996A= (p.Ser666=) c.1987A= (p.Ser663=) c.1906A= (p.Ser636=) c.1855A= (p.Ser619=) | |
14 | g.33800144A>C | CA389412734 | NPAS3 | c.1837A>C (p.Ser613Arg) c.1846A>C (p.Ser616Arg) c.1737A>C c.793+2563A>C c.1741A>C (p.Ser581Arg) c.1798A>C (p.Ser600Arg) c.1747A>C (p.Ser583Arg) c.1852A>C (p.Ser618Arg) c.1759A>C (p.Ser587Arg) c.1858A>C (p.Ser620Arg) c.1888A>C (p.Ser630Arg) c.1879A>C (p.Ser627Arg) c.1849A>C (p.Ser617Arg) c.1792A>C (p.Ser598Arg) c.1738A>C (p.Ser580Arg) c.1531A>C (p.Ser511Arg) c.1945A>C (p.Ser649Arg) c.1939A>C (p.Ser647Arg) c.1936A>C (p.Ser646Arg) c.1996A>C (p.Ser666Arg) c.1987A>C (p.Ser663Arg) c.1906A>C (p.Ser636Arg) c.1855A>C (p.Ser619Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800144A>G | CA389412737 | NPAS3 | c.1837A>G (p.Ser613Gly) c.1846A>G (p.Ser616Gly) c.1737A>G c.793+2563A>G c.1741A>G (p.Ser581Gly) c.1798A>G (p.Ser600Gly) c.1747A>G (p.Ser583Gly) c.1852A>G (p.Ser618Gly) c.1759A>G (p.Ser587Gly) c.1858A>G (p.Ser620Gly) c.1888A>G (p.Ser630Gly) c.1879A>G (p.Ser627Gly) c.1849A>G (p.Ser617Gly) c.1792A>G (p.Ser598Gly) c.1738A>G (p.Ser580Gly) c.1531A>G (p.Ser511Gly) c.1945A>G (p.Ser649Gly) c.1939A>G (p.Ser647Gly) c.1936A>G (p.Ser646Gly) c.1996A>G (p.Ser666Gly) c.1987A>G (p.Ser663Gly) c.1906A>G (p.Ser636Gly) c.1855A>G (p.Ser619Gly) | |
14 | g.33800144A>T | CA7150892 | NPAS3 | c.1837A>T (p.Ser613Cys) c.1846A>T (p.Ser616Cys) c.1737A>T c.793+2563A>T c.1741A>T (p.Ser581Cys) c.1798A>T (p.Ser600Cys) c.1747A>T (p.Ser583Cys) c.1852A>T (p.Ser618Cys) c.1759A>T (p.Ser587Cys) c.1858A>T (p.Ser620Cys) c.1888A>T (p.Ser630Cys) c.1879A>T (p.Ser627Cys) c.1849A>T (p.Ser617Cys) c.1792A>T (p.Ser598Cys) c.1738A>T (p.Ser580Cys) c.1531A>T (p.Ser511Cys) c.1945A>T (p.Ser649Cys) c.1939A>T (p.Ser647Cys) c.1936A>T (p.Ser646Cys) c.1996A>T (p.Ser666Cys) c.1987A>T (p.Ser663Cys) c.1906A>T (p.Ser636Cys) c.1855A>T (p.Ser619Cys) | dbSNP ExAC gnomAD v2 |
14 | g.33800145G>A | CA389412741 | NPAS3 | c.1838G>A (p.Ser613Asn) c.1847G>A (p.Ser616Asn) c.1738G>A c.793+2564G>A c.1742G>A (p.Ser581Asn) c.1799G>A (p.Ser600Asn) c.1748G>A (p.Ser583Asn) c.1853G>A (p.Ser618Asn) c.1760G>A (p.Ser587Asn) c.1859G>A (p.Ser620Asn) c.1889G>A (p.Ser630Asn) c.1880G>A (p.Ser627Asn) c.1850G>A (p.Ser617Asn) c.1793G>A (p.Ser598Asn) c.1739G>A (p.Ser580Asn) c.1532G>A (p.Ser511Asn) c.1946G>A (p.Ser649Asn) c.1940G>A (p.Ser647Asn) c.1937G>A (p.Ser646Asn) c.1997G>A (p.Ser666Asn) c.1988G>A (p.Ser663Asn) c.1907G>A (p.Ser636Asn) c.1856G>A (p.Ser619Asn) | dbSNP |
14 | g.33800145G>C | CA389412743 | NPAS3 | c.1838G>C (p.Ser613Thr) c.1847G>C (p.Ser616Thr) c.1738G>C c.793+2564G>C c.1742G>C (p.Ser581Thr) c.1799G>C (p.Ser600Thr) c.1748G>C (p.Ser583Thr) c.1853G>C (p.Ser618Thr) c.1760G>C (p.Ser587Thr) c.1859G>C (p.Ser620Thr) c.1889G>C (p.Ser630Thr) c.1880G>C (p.Ser627Thr) c.1850G>C (p.Ser617Thr) c.1793G>C (p.Ser598Thr) c.1739G>C (p.Ser580Thr) c.1532G>C (p.Ser511Thr) c.1946G>C (p.Ser649Thr) c.1940G>C (p.Ser647Thr) c.1937G>C (p.Ser646Thr) c.1997G>C (p.Ser666Thr) c.1988G>C (p.Ser663Thr) c.1907G>C (p.Ser636Thr) c.1856G>C (p.Ser619Thr) | dbSNP COSMIC COSMIC COSMIC |
14 | g.33800145G= | CA2128326957 | NPAS3 | c.1838G= (p.Ser613=) c.1847G= (p.Ser616=) c.1738G= c.793+2564G= c.1742G= (p.Ser581=) c.1799G= (p.Ser600=) c.1748G= (p.Ser583=) c.1853G= (p.Ser618=) c.1760G= (p.Ser587=) c.1859G= (p.Ser620=) c.1889G= (p.Ser630=) c.1880G= (p.Ser627=) c.1850G= (p.Ser617=) c.1793G= (p.Ser598=) c.1739G= (p.Ser580=) c.1532G= (p.Ser511=) c.1946G= (p.Ser649=) c.1940G= (p.Ser647=) c.1937G= (p.Ser646=) c.1997G= (p.Ser666=) c.1988G= (p.Ser663=) c.1907G= (p.Ser636=) c.1856G= (p.Ser619=) | |
14 | g.33800145G>T | CA389412746 | NPAS3 | c.1838G>T (p.Ser613Ile) c.1847G>T (p.Ser616Ile) c.1738G>T c.793+2564G>T c.1742G>T (p.Ser581Ile) c.1799G>T (p.Ser600Ile) c.1748G>T (p.Ser583Ile) c.1853G>T (p.Ser618Ile) c.1760G>T (p.Ser587Ile) c.1859G>T (p.Ser620Ile) c.1889G>T (p.Ser630Ile) c.1880G>T (p.Ser627Ile) c.1850G>T (p.Ser617Ile) c.1793G>T (p.Ser598Ile) c.1739G>T (p.Ser580Ile) c.1532G>T (p.Ser511Ile) c.1946G>T (p.Ser649Ile) c.1940G>T (p.Ser647Ile) c.1937G>T (p.Ser646Ile) c.1997G>T (p.Ser666Ile) c.1988G>T (p.Ser663Ile) c.1907G>T (p.Ser636Ile) c.1856G>T (p.Ser619Ile) | |
14 | g.33800146C>A | CA389412749 | NPAS3 | c.1839C>A (p.Ser613Arg) c.1848C>A (p.Ser616Arg) c.1739C>A c.793+2565C>A c.1743C>A (p.Ser581Arg) c.1800C>A (p.Ser600Arg) c.1749C>A (p.Ser583Arg) c.1854C>A (p.Ser618Arg) c.1761C>A (p.Ser587Arg) c.1860C>A (p.Ser620Arg) c.1890C>A (p.Ser630Arg) c.1881C>A (p.Ser627Arg) c.1851C>A (p.Ser617Arg) c.1794C>A (p.Ser598Arg) c.1740C>A (p.Ser580Arg) c.1533C>A (p.Ser511Arg) c.1947C>A (p.Ser649Arg) c.1941C>A (p.Ser647Arg) c.1938C>A (p.Ser646Arg) c.1998C>A (p.Ser666Arg) c.1989C>A (p.Ser663Arg) c.1908C>A (p.Ser636Arg) c.1857C>A (p.Ser619Arg) | |
14 | g.33800146C>G | CA389412752 | NPAS3 | c.1839C>G (p.Ser613Arg) c.1848C>G (p.Ser616Arg) c.1739C>G c.793+2565C>G c.1743C>G (p.Ser581Arg) c.1800C>G (p.Ser600Arg) c.1749C>G (p.Ser583Arg) c.1854C>G (p.Ser618Arg) c.1761C>G (p.Ser587Arg) c.1860C>G (p.Ser620Arg) c.1890C>G (p.Ser630Arg) c.1881C>G (p.Ser627Arg) c.1851C>G (p.Ser617Arg) c.1794C>G (p.Ser598Arg) c.1740C>G (p.Ser580Arg) c.1533C>G (p.Ser511Arg) c.1947C>G (p.Ser649Arg) c.1941C>G (p.Ser647Arg) c.1938C>G (p.Ser646Arg) c.1998C>G (p.Ser666Arg) c.1989C>G (p.Ser663Arg) c.1908C>G (p.Ser636Arg) c.1857C>G (p.Ser619Arg) | |
14 | g.33800146C>T | CA486092827 | NPAS3 | c.1839C>T (p.Ser613=) c.1848C>T (p.Ser616=) c.1739C>T c.793+2565C>T c.1743C>T (p.Ser581=) c.1800C>T (p.Ser600=) c.1749C>T (p.Ser583=) c.1854C>T (p.Ser618=) c.1761C>T (p.Ser587=) c.1860C>T (p.Ser620=) c.1890C>T (p.Ser630=) c.1881C>T (p.Ser627=) c.1851C>T (p.Ser617=) c.1794C>T (p.Ser598=) c.1740C>T (p.Ser580=) c.1533C>T (p.Ser511=) c.1947C>T (p.Ser649=) c.1941C>T (p.Ser647=) c.1938C>T (p.Ser646=) c.1998C>T (p.Ser666=) c.1989C>T (p.Ser663=) c.1908C>T (p.Ser636=) c.1857C>T (p.Ser619=) | |
14 | g.33800147C>A | CA7150893 | NPAS3 | c.1840C>A (p.Arg614Ser) c.1849C>A (p.Arg617Ser) c.1740C>A c.793+2566C>A c.1744C>A (p.Arg582Ser) c.1801C>A (p.Arg601Ser) c.1750C>A (p.Arg584Ser) c.1855C>A (p.Arg619Ser) c.1762C>A (p.Arg588Ser) c.1861C>A (p.Arg621Ser) c.1891C>A (p.Arg631Ser) c.1882C>A (p.Arg628Ser) c.1852C>A (p.Arg618Ser) c.1795C>A (p.Arg599Ser) c.1741C>A (p.Arg581Ser) c.1534C>A (p.Arg512Ser) c.1948C>A (p.Arg650Ser) c.1942C>A (p.Arg648Ser) c.1939C>A (p.Arg647Ser) c.1999C>A (p.Arg667Ser) c.1990C>A (p.Arg664Ser) c.1909C>A (p.Arg637Ser) c.1858C>A (p.Arg620Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800147C= | CA2128326960 | NPAS3 | c.1840C= (p.Arg614=) c.1849C= (p.Arg617=) c.1740C= c.793+2566C= c.1744C= (p.Arg582=) c.1801C= (p.Arg601=) c.1750C= (p.Arg584=) c.1855C= (p.Arg619=) c.1762C= (p.Arg588=) c.1861C= (p.Arg621=) c.1891C= (p.Arg631=) c.1882C= (p.Arg628=) c.1852C= (p.Arg618=) c.1795C= (p.Arg599=) c.1741C= (p.Arg581=) c.1534C= (p.Arg512=) c.1948C= (p.Arg650=) c.1942C= (p.Arg648=) c.1939C= (p.Arg647=) c.1999C= (p.Arg667=) c.1990C= (p.Arg664=) c.1909C= (p.Arg637=) c.1858C= (p.Arg620=) | |
14 | g.33800147C>G | CA389412757 | NPAS3 | c.1840C>G (p.Arg614Gly) c.1849C>G (p.Arg617Gly) c.1740C>G c.793+2566C>G c.1744C>G (p.Arg582Gly) c.1801C>G (p.Arg601Gly) c.1750C>G (p.Arg584Gly) c.1855C>G (p.Arg619Gly) c.1762C>G (p.Arg588Gly) c.1861C>G (p.Arg621Gly) c.1891C>G (p.Arg631Gly) c.1882C>G (p.Arg628Gly) c.1852C>G (p.Arg618Gly) c.1795C>G (p.Arg599Gly) c.1741C>G (p.Arg581Gly) c.1534C>G (p.Arg512Gly) c.1948C>G (p.Arg650Gly) c.1942C>G (p.Arg648Gly) c.1939C>G (p.Arg647Gly) c.1999C>G (p.Arg667Gly) c.1990C>G (p.Arg664Gly) c.1909C>G (p.Arg637Gly) c.1858C>G (p.Arg620Gly) | |
14 | g.33800147C>T | CA389412755 | NPAS3 | c.1840C>T (p.Arg614Cys) c.1849C>T (p.Arg617Cys) c.1740C>T c.793+2566C>T c.1744C>T (p.Arg582Cys) c.1801C>T (p.Arg601Cys) c.1750C>T (p.Arg584Cys) c.1855C>T (p.Arg619Cys) c.1762C>T (p.Arg588Cys) c.1861C>T (p.Arg621Cys) c.1891C>T (p.Arg631Cys) c.1882C>T (p.Arg628Cys) c.1852C>T (p.Arg618Cys) c.1795C>T (p.Arg599Cys) c.1741C>T (p.Arg581Cys) c.1534C>T (p.Arg512Cys) c.1948C>T (p.Arg650Cys) c.1942C>T (p.Arg648Cys) c.1939C>T (p.Arg647Cys) c.1999C>T (p.Arg667Cys) c.1990C>T (p.Arg664Cys) c.1909C>T (p.Arg637Cys) c.1858C>T (p.Arg620Cys) | gnomAD v4 |
14 | g.33800148G>A | CA7150894 | NPAS3 | c.1841G>A (p.Arg614His) c.1850G>A (p.Arg617His) c.1741G>A c.793+2567G>A c.1745G>A (p.Arg582His) c.1802G>A (p.Arg601His) c.1751G>A (p.Arg584His) c.1856G>A (p.Arg619His) c.1763G>A (p.Arg588His) c.1862G>A (p.Arg621His) c.1892G>A (p.Arg631His) c.1883G>A (p.Arg628His) c.1853G>A (p.Arg618His) c.1796G>A (p.Arg599His) c.1742G>A (p.Arg581His) c.1535G>A (p.Arg512His) c.1949G>A (p.Arg650His) c.1943G>A (p.Arg648His) c.1940G>A (p.Arg647His) c.2000G>A (p.Arg667His) c.1991G>A (p.Arg664His) c.1910G>A (p.Arg637His) c.1859G>A (p.Arg620His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800148G>C | CA389412766 | NPAS3 | c.1841G>C (p.Arg614Pro) c.1850G>C (p.Arg617Pro) c.1741G>C c.793+2567G>C c.1745G>C (p.Arg582Pro) c.1802G>C (p.Arg601Pro) c.1751G>C (p.Arg584Pro) c.1856G>C (p.Arg619Pro) c.1763G>C (p.Arg588Pro) c.1862G>C (p.Arg621Pro) c.1892G>C (p.Arg631Pro) c.1883G>C (p.Arg628Pro) c.1853G>C (p.Arg618Pro) c.1796G>C (p.Arg599Pro) c.1742G>C (p.Arg581Pro) c.1535G>C (p.Arg512Pro) c.1949G>C (p.Arg650Pro) c.1943G>C (p.Arg648Pro) c.1940G>C (p.Arg647Pro) c.2000G>C (p.Arg667Pro) c.1991G>C (p.Arg664Pro) c.1910G>C (p.Arg637Pro) c.1859G>C (p.Arg620Pro) | |
14 | g.33800148G= | CA2128326963 | NPAS3 | c.1841G= (p.Arg614=) c.1850G= (p.Arg617=) c.1741G= c.793+2567G= c.1745G= (p.Arg582=) c.1802G= (p.Arg601=) c.1751G= (p.Arg584=) c.1856G= (p.Arg619=) c.1763G= (p.Arg588=) c.1862G= (p.Arg621=) c.1892G= (p.Arg631=) c.1883G= (p.Arg628=) c.1853G= (p.Arg618=) c.1796G= (p.Arg599=) c.1742G= (p.Arg581=) c.1535G= (p.Arg512=) c.1949G= (p.Arg650=) c.1943G= (p.Arg648=) c.1940G= (p.Arg647=) c.2000G= (p.Arg667=) c.1991G= (p.Arg664=) c.1910G= (p.Arg637=) c.1859G= (p.Arg620=) | |
14 | g.33800148G>T | CA389412769 | NPAS3 | c.1841G>T (p.Arg614Leu) c.1850G>T (p.Arg617Leu) c.1741G>T c.793+2567G>T c.1745G>T (p.Arg582Leu) c.1802G>T (p.Arg601Leu) c.1751G>T (p.Arg584Leu) c.1856G>T (p.Arg619Leu) c.1763G>T (p.Arg588Leu) c.1862G>T (p.Arg621Leu) c.1892G>T (p.Arg631Leu) c.1883G>T (p.Arg628Leu) c.1853G>T (p.Arg618Leu) c.1796G>T (p.Arg599Leu) c.1742G>T (p.Arg581Leu) c.1535G>T (p.Arg512Leu) c.1949G>T (p.Arg650Leu) c.1943G>T (p.Arg648Leu) c.1940G>T (p.Arg647Leu) c.2000G>T (p.Arg667Leu) c.1991G>T (p.Arg664Leu) c.1910G>T (p.Arg637Leu) c.1859G>T (p.Arg620Leu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800149C>A | CA486092829 | NPAS3 | c.1842C>A (p.Arg614=) c.1851C>A (p.Arg617=) c.1742C>A c.793+2568C>A c.1746C>A (p.Arg582=) c.1803C>A (p.Arg601=) c.1752C>A (p.Arg584=) c.1857C>A (p.Arg619=) c.1764C>A (p.Arg588=) c.1863C>A (p.Arg621=) c.1893C>A (p.Arg631=) c.1884C>A (p.Arg628=) c.1854C>A (p.Arg618=) c.1797C>A (p.Arg599=) c.1743C>A (p.Arg581=) c.1536C>A (p.Arg512=) c.1950C>A (p.Arg650=) c.1944C>A (p.Arg648=) c.1941C>A (p.Arg647=) c.2001C>A (p.Arg667=) c.1992C>A (p.Arg664=) c.1911C>A (p.Arg637=) c.1860C>A (p.Arg620=) | |
14 | g.33800149C= | CA2128326966 | NPAS3 | c.1842C= (p.Arg614=) c.1851C= (p.Arg617=) c.1742C= c.793+2568C= c.1746C= (p.Arg582=) c.1803C= (p.Arg601=) c.1752C= (p.Arg584=) c.1857C= (p.Arg619=) c.1764C= (p.Arg588=) c.1863C= (p.Arg621=) c.1893C= (p.Arg631=) c.1884C= (p.Arg628=) c.1854C= (p.Arg618=) c.1797C= (p.Arg599=) c.1743C= (p.Arg581=) c.1536C= (p.Arg512=) c.1950C= (p.Arg650=) c.1944C= (p.Arg648=) c.1941C= (p.Arg647=) c.2001C= (p.Arg667=) c.1992C= (p.Arg664=) c.1911C= (p.Arg637=) c.1860C= (p.Arg620=) | |
14 | g.33800149C>G | CA7150896 | NPAS3 | c.1842C>G (p.Arg614=) c.1851C>G (p.Arg617=) c.1742C>G c.793+2568C>G c.1746C>G (p.Arg582=) c.1803C>G (p.Arg601=) c.1752C>G (p.Arg584=) c.1857C>G (p.Arg619=) c.1764C>G (p.Arg588=) c.1863C>G (p.Arg621=) c.1893C>G (p.Arg631=) c.1884C>G (p.Arg628=) c.1854C>G (p.Arg618=) c.1797C>G (p.Arg599=) c.1743C>G (p.Arg581=) c.1536C>G (p.Arg512=) c.1950C>G (p.Arg650=) c.1944C>G (p.Arg648=) c.1941C>G (p.Arg647=) c.2001C>G (p.Arg667=) c.1992C>G (p.Arg664=) c.1911C>G (p.Arg637=) c.1860C>G (p.Arg620=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800149C>T | CA7150895 | NPAS3 | c.1842C>T (p.Arg614=) c.1851C>T (p.Arg617=) c.1742C>T c.793+2568C>T c.1746C>T (p.Arg582=) c.1803C>T (p.Arg601=) c.1752C>T (p.Arg584=) c.1857C>T (p.Arg619=) c.1764C>T (p.Arg588=) c.1863C>T (p.Arg621=) c.1893C>T (p.Arg631=) c.1884C>T (p.Arg628=) c.1854C>T (p.Arg618=) c.1797C>T (p.Arg599=) c.1743C>T (p.Arg581=) c.1536C>T (p.Arg512=) c.1950C>T (p.Arg650=) c.1944C>T (p.Arg648=) c.1941C>T (p.Arg647=) c.2001C>T (p.Arg667=) c.1992C>T (p.Arg664=) c.1911C>T (p.Arg637=) c.1860C>T (p.Arg620=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800150C>A | CA486092830 | NPAS3 | c.1843C>A (p.Arg615=) c.1852C>A (p.Arg618=) c.1743C>A c.793+2569C>A c.1747C>A (p.Arg583=) c.1804C>A (p.Arg602=) c.1753C>A (p.Arg585=) c.1858C>A (p.Arg620=) c.1765C>A (p.Arg589=) c.1864C>A (p.Arg622=) c.1894C>A (p.Arg632=) c.1885C>A (p.Arg629=) c.1855C>A (p.Arg619=) c.1798C>A (p.Arg600=) c.1744C>A (p.Arg582=) c.1537C>A (p.Arg513=) c.1951C>A (p.Arg651=) c.1945C>A (p.Arg649=) c.1942C>A (p.Arg648=) c.2002C>A (p.Arg668=) c.1993C>A (p.Arg665=) c.1912C>A (p.Arg638=) c.1861C>A (p.Arg621=) | |
14 | g.33800150C>G | CA389412776 | NPAS3 | c.1843C>G (p.Arg615Gly) c.1852C>G (p.Arg618Gly) c.1743C>G c.793+2569C>G c.1747C>G (p.Arg583Gly) c.1804C>G (p.Arg602Gly) c.1753C>G (p.Arg585Gly) c.1858C>G (p.Arg620Gly) c.1765C>G (p.Arg589Gly) c.1864C>G (p.Arg622Gly) c.1894C>G (p.Arg632Gly) c.1885C>G (p.Arg629Gly) c.1855C>G (p.Arg619Gly) c.1798C>G (p.Arg600Gly) c.1744C>G (p.Arg582Gly) c.1537C>G (p.Arg513Gly) c.1951C>G (p.Arg651Gly) c.1945C>G (p.Arg649Gly) c.1942C>G (p.Arg648Gly) c.2002C>G (p.Arg668Gly) c.1993C>G (p.Arg665Gly) c.1912C>G (p.Arg638Gly) c.1861C>G (p.Arg621Gly) | COSMIC COSMIC COSMIC |
14 | g.33800150C>T | CA389412780 | NPAS3 | c.1843C>T (p.Arg615Trp) c.1852C>T (p.Arg618Trp) c.1743C>T c.793+2569C>T c.1747C>T (p.Arg583Trp) c.1804C>T (p.Arg602Trp) c.1753C>T (p.Arg585Trp) c.1858C>T (p.Arg620Trp) c.1765C>T (p.Arg589Trp) c.1864C>T (p.Arg622Trp) c.1894C>T (p.Arg632Trp) c.1885C>T (p.Arg629Trp) c.1855C>T (p.Arg619Trp) c.1798C>T (p.Arg600Trp) c.1744C>T (p.Arg582Trp) c.1537C>T (p.Arg513Trp) c.1951C>T (p.Arg651Trp) c.1945C>T (p.Arg649Trp) c.1942C>T (p.Arg648Trp) c.2002C>T (p.Arg668Trp) c.1993C>T (p.Arg665Trp) c.1912C>T (p.Arg638Trp) c.1861C>T (p.Arg621Trp) | gnomAD v4 |
14 | g.33800151G>A | CA7150897 | NPAS3 | c.1844G>A (p.Arg615Gln) c.1853G>A (p.Arg618Gln) c.1744G>A c.793+2570G>A c.1748G>A (p.Arg583Gln) c.1805G>A (p.Arg602Gln) c.1754G>A (p.Arg585Gln) c.1859G>A (p.Arg620Gln) c.1766G>A (p.Arg589Gln) c.1865G>A (p.Arg622Gln) c.1895G>A (p.Arg632Gln) c.1886G>A (p.Arg629Gln) c.1856G>A (p.Arg619Gln) c.1799G>A (p.Arg600Gln) c.1745G>A (p.Arg582Gln) c.1538G>A (p.Arg513Gln) c.1952G>A (p.Arg651Gln) c.1946G>A (p.Arg649Gln) c.1943G>A (p.Arg648Gln) c.2003G>A (p.Arg668Gln) c.1994G>A (p.Arg665Gln) c.1913G>A (p.Arg638Gln) c.1862G>A (p.Arg621Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800151G>C | CA389412786 | NPAS3 | c.1844G>C (p.Arg615Pro) c.1853G>C (p.Arg618Pro) c.1744G>C c.793+2570G>C c.1748G>C (p.Arg583Pro) c.1805G>C (p.Arg602Pro) c.1754G>C (p.Arg585Pro) c.1859G>C (p.Arg620Pro) c.1766G>C (p.Arg589Pro) c.1865G>C (p.Arg622Pro) c.1895G>C (p.Arg632Pro) c.1886G>C (p.Arg629Pro) c.1856G>C (p.Arg619Pro) c.1799G>C (p.Arg600Pro) c.1745G>C (p.Arg582Pro) c.1538G>C (p.Arg513Pro) c.1952G>C (p.Arg651Pro) c.1946G>C (p.Arg649Pro) c.1943G>C (p.Arg648Pro) c.2003G>C (p.Arg668Pro) c.1994G>C (p.Arg665Pro) c.1913G>C (p.Arg638Pro) c.1862G>C (p.Arg621Pro) | |
14 | g.33800151G= | CA2128326970 | NPAS3 | c.1844G= (p.Arg615=) c.1853G= (p.Arg618=) c.1744G= c.793+2570G= c.1748G= (p.Arg583=) c.1805G= (p.Arg602=) c.1754G= (p.Arg585=) c.1859G= (p.Arg620=) c.1766G= (p.Arg589=) c.1865G= (p.Arg622=) c.1895G= (p.Arg632=) c.1886G= (p.Arg629=) c.1856G= (p.Arg619=) c.1799G= (p.Arg600=) c.1745G= (p.Arg582=) c.1538G= (p.Arg513=) c.1952G= (p.Arg651=) c.1946G= (p.Arg649=) c.1943G= (p.Arg648=) c.2003G= (p.Arg668=) c.1994G= (p.Arg665=) c.1913G= (p.Arg638=) c.1862G= (p.Arg621=) | |
14 | g.33800151G>T | CA389412785 | NPAS3 | c.1844G>T (p.Arg615Leu) c.1853G>T (p.Arg618Leu) c.1744G>T c.793+2570G>T c.1748G>T (p.Arg583Leu) c.1805G>T (p.Arg602Leu) c.1754G>T (p.Arg585Leu) c.1859G>T (p.Arg620Leu) c.1766G>T (p.Arg589Leu) c.1865G>T (p.Arg622Leu) c.1895G>T (p.Arg632Leu) c.1886G>T (p.Arg629Leu) c.1856G>T (p.Arg619Leu) c.1799G>T (p.Arg600Leu) c.1745G>T (p.Arg582Leu) c.1538G>T (p.Arg513Leu) c.1952G>T (p.Arg651Leu) c.1946G>T (p.Arg649Leu) c.1943G>T (p.Arg648Leu) c.2003G>T (p.Arg668Leu) c.1994G>T (p.Arg665Leu) c.1913G>T (p.Arg638Leu) c.1862G>T (p.Arg621Leu) | |
14 | g.33800152G>A | CA486092833 | NPAS3 | c.1845G>A (p.Arg615=) c.1854G>A (p.Arg618=) c.1745G>A c.793+2571G>A c.1749G>A (p.Arg583=) c.1806G>A (p.Arg602=) c.1755G>A (p.Arg585=) c.1860G>A (p.Arg620=) c.1767G>A (p.Arg589=) c.1866G>A (p.Arg622=) c.1896G>A (p.Arg632=) c.1887G>A (p.Arg629=) c.1857G>A (p.Arg619=) c.1800G>A (p.Arg600=) c.1746G>A (p.Arg582=) c.1539G>A (p.Arg513=) c.1953G>A (p.Arg651=) c.1947G>A (p.Arg649=) c.1944G>A (p.Arg648=) c.2004G>A (p.Arg668=) c.1995G>A (p.Arg665=) c.1914G>A (p.Arg638=) c.1863G>A (p.Arg621=) | |
14 | g.33800152G>C | CA486092834 | NPAS3 | c.1845G>C (p.Arg615=) c.1854G>C (p.Arg618=) c.1745G>C c.793+2571G>C c.1749G>C (p.Arg583=) c.1806G>C (p.Arg602=) c.1755G>C (p.Arg585=) c.1860G>C (p.Arg620=) c.1767G>C (p.Arg589=) c.1866G>C (p.Arg622=) c.1896G>C (p.Arg632=) c.1887G>C (p.Arg629=) c.1857G>C (p.Arg619=) c.1800G>C (p.Arg600=) c.1746G>C (p.Arg582=) c.1539G>C (p.Arg513=) c.1953G>C (p.Arg651=) c.1947G>C (p.Arg649=) c.1944G>C (p.Arg648=) c.2004G>C (p.Arg668=) c.1995G>C (p.Arg665=) c.1914G>C (p.Arg638=) c.1863G>C (p.Arg621=) | |
14 | g.33800152G>T | CA486092835 | NPAS3 | c.1845G>T (p.Arg615=) c.1854G>T (p.Arg618=) c.1745G>T c.793+2571G>T c.1749G>T (p.Arg583=) c.1806G>T (p.Arg602=) c.1755G>T (p.Arg585=) c.1860G>T (p.Arg620=) c.1767G>T (p.Arg589=) c.1866G>T (p.Arg622=) c.1896G>T (p.Arg632=) c.1887G>T (p.Arg629=) c.1857G>T (p.Arg619=) c.1800G>T (p.Arg600=) c.1746G>T (p.Arg582=) c.1539G>T (p.Arg513=) c.1953G>T (p.Arg651=) c.1947G>T (p.Arg649=) c.1944G>T (p.Arg648=) c.2004G>T (p.Arg668=) c.1995G>T (p.Arg665=) c.1914G>T (p.Arg638=) c.1863G>T (p.Arg621=) | gnomAD v4 |
14 | g.33800153C>A | CA389412787 | NPAS3 | c.1846C>A (p.Arg616Ser) c.1855C>A (p.Arg619Ser) c.1746C>A c.793+2572C>A c.1750C>A (p.Arg584Ser) c.1807C>A (p.Arg603Ser) c.1756C>A (p.Arg586Ser) c.1861C>A (p.Arg621Ser) c.1768C>A (p.Arg590Ser) c.1867C>A (p.Arg623Ser) c.1897C>A (p.Arg633Ser) c.1888C>A (p.Arg630Ser) c.1858C>A (p.Arg620Ser) c.1801C>A (p.Arg601Ser) c.1747C>A (p.Arg583Ser) c.1540C>A (p.Arg514Ser) c.1954C>A (p.Arg652Ser) c.1948C>A (p.Arg650Ser) c.1945C>A (p.Arg649Ser) c.2005C>A (p.Arg669Ser) c.1996C>A (p.Arg666Ser) c.1915C>A (p.Arg639Ser) c.1864C>A (p.Arg622Ser) | |
14 | g.33800153C= | CA2128326974 | NPAS3 | c.1846C= (p.Arg616=) c.1855C= (p.Arg619=) c.1746C= c.793+2572C= c.1750C= (p.Arg584=) c.1807C= (p.Arg603=) c.1756C= (p.Arg586=) c.1861C= (p.Arg621=) c.1768C= (p.Arg590=) c.1867C= (p.Arg623=) c.1897C= (p.Arg633=) c.1888C= (p.Arg630=) c.1858C= (p.Arg620=) c.1801C= (p.Arg601=) c.1747C= (p.Arg583=) c.1540C= (p.Arg514=) c.1954C= (p.Arg652=) c.1948C= (p.Arg650=) c.1945C= (p.Arg649=) c.2005C= (p.Arg669=) c.1996C= (p.Arg666=) c.1915C= (p.Arg639=) c.1864C= (p.Arg622=) | |
14 | g.33800153C>G | CA389412789 | NPAS3 | c.1846C>G (p.Arg616Gly) c.1855C>G (p.Arg619Gly) c.1746C>G c.793+2572C>G c.1750C>G (p.Arg584Gly) c.1807C>G (p.Arg603Gly) c.1756C>G (p.Arg586Gly) c.1861C>G (p.Arg621Gly) c.1768C>G (p.Arg590Gly) c.1867C>G (p.Arg623Gly) c.1897C>G (p.Arg633Gly) c.1888C>G (p.Arg630Gly) c.1858C>G (p.Arg620Gly) c.1801C>G (p.Arg601Gly) c.1747C>G (p.Arg583Gly) c.1540C>G (p.Arg514Gly) c.1954C>G (p.Arg652Gly) c.1948C>G (p.Arg650Gly) c.1945C>G (p.Arg649Gly) c.2005C>G (p.Arg669Gly) c.1996C>G (p.Arg666Gly) c.1915C>G (p.Arg639Gly) c.1864C>G (p.Arg622Gly) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800153C>T | CA389412791 | NPAS3 | c.1846C>T (p.Arg616Cys) c.1855C>T (p.Arg619Cys) c.1746C>T c.793+2572C>T c.1750C>T (p.Arg584Cys) c.1807C>T (p.Arg603Cys) c.1756C>T (p.Arg586Cys) c.1861C>T (p.Arg621Cys) c.1768C>T (p.Arg590Cys) c.1867C>T (p.Arg623Cys) c.1897C>T (p.Arg633Cys) c.1888C>T (p.Arg630Cys) c.1858C>T (p.Arg620Cys) c.1801C>T (p.Arg601Cys) c.1747C>T (p.Arg583Cys) c.1540C>T (p.Arg514Cys) c.1954C>T (p.Arg652Cys) c.1948C>T (p.Arg650Cys) c.1945C>T (p.Arg649Cys) c.2005C>T (p.Arg669Cys) c.1996C>T (p.Arg666Cys) c.1915C>T (p.Arg639Cys) c.1864C>T (p.Arg622Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800154G>A | CA389412796 | NPAS3 | c.1847G>A (p.Arg616His) c.1856G>A (p.Arg619His) c.1747G>A c.793+2573G>A c.1751G>A (p.Arg584His) c.1808G>A (p.Arg603His) c.1757G>A (p.Arg586His) c.1862G>A (p.Arg621His) c.1769G>A (p.Arg590His) c.1868G>A (p.Arg623His) c.1898G>A (p.Arg633His) c.1889G>A (p.Arg630His) c.1859G>A (p.Arg620His) c.1802G>A (p.Arg601His) c.1748G>A (p.Arg583His) c.1541G>A (p.Arg514His) c.1955G>A (p.Arg652His) c.1949G>A (p.Arg650His) c.1946G>A (p.Arg649His) c.2006G>A (p.Arg669His) c.1997G>A (p.Arg666His) c.1916G>A (p.Arg639His) c.1865G>A (p.Arg622His) | |
14 | g.33800154G>C | CA389412798 | NPAS3 | c.1847G>C (p.Arg616Pro) c.1856G>C (p.Arg619Pro) c.1747G>C c.793+2573G>C c.1751G>C (p.Arg584Pro) c.1808G>C (p.Arg603Pro) c.1757G>C (p.Arg586Pro) c.1862G>C (p.Arg621Pro) c.1769G>C (p.Arg590Pro) c.1868G>C (p.Arg623Pro) c.1898G>C (p.Arg633Pro) c.1889G>C (p.Arg630Pro) c.1859G>C (p.Arg620Pro) c.1802G>C (p.Arg601Pro) c.1748G>C (p.Arg583Pro) c.1541G>C (p.Arg514Pro) c.1955G>C (p.Arg652Pro) c.1949G>C (p.Arg650Pro) c.1946G>C (p.Arg649Pro) c.2006G>C (p.Arg669Pro) c.1997G>C (p.Arg666Pro) c.1916G>C (p.Arg639Pro) c.1865G>C (p.Arg622Pro) | |
14 | g.33800154G>T | CA389412802 | NPAS3 | c.1847G>T (p.Arg616Leu) c.1856G>T (p.Arg619Leu) c.1747G>T c.793+2573G>T c.1751G>T (p.Arg584Leu) c.1808G>T (p.Arg603Leu) c.1757G>T (p.Arg586Leu) c.1862G>T (p.Arg621Leu) c.1769G>T (p.Arg590Leu) c.1868G>T (p.Arg623Leu) c.1898G>T (p.Arg633Leu) c.1889G>T (p.Arg630Leu) c.1859G>T (p.Arg620Leu) c.1802G>T (p.Arg601Leu) c.1748G>T (p.Arg583Leu) c.1541G>T (p.Arg514Leu) c.1955G>T (p.Arg652Leu) c.1949G>T (p.Arg650Leu) c.1946G>T (p.Arg649Leu) c.2006G>T (p.Arg669Leu) c.1997G>T (p.Arg666Leu) c.1916G>T (p.Arg639Leu) c.1865G>T (p.Arg622Leu) | |
14 | g.33800155C>A | CA486092836 | NPAS3 | c.1848C>A (p.Arg616=) c.1857C>A (p.Arg619=) c.1748C>A c.793+2574C>A c.1752C>A (p.Arg584=) c.1809C>A (p.Arg603=) c.1758C>A (p.Arg586=) c.1863C>A (p.Arg621=) c.1770C>A (p.Arg590=) c.1869C>A (p.Arg623=) c.1899C>A (p.Arg633=) c.1890C>A (p.Arg630=) c.1860C>A (p.Arg620=) c.1803C>A (p.Arg601=) c.1749C>A (p.Arg583=) c.1542C>A (p.Arg514=) c.1956C>A (p.Arg652=) c.1950C>A (p.Arg650=) c.1947C>A (p.Arg649=) c.2007C>A (p.Arg669=) c.1998C>A (p.Arg666=) c.1917C>A (p.Arg639=) c.1866C>A (p.Arg622=) | |
14 | g.33800155C>G | CA486092838 | NPAS3 | c.1848C>G (p.Arg616=) c.1857C>G (p.Arg619=) c.1748C>G c.793+2574C>G c.1752C>G (p.Arg584=) c.1809C>G (p.Arg603=) c.1758C>G (p.Arg586=) c.1863C>G (p.Arg621=) c.1770C>G (p.Arg590=) c.1869C>G (p.Arg623=) c.1899C>G (p.Arg633=) c.1890C>G (p.Arg630=) c.1860C>G (p.Arg620=) c.1803C>G (p.Arg601=) c.1749C>G (p.Arg583=) c.1542C>G (p.Arg514=) c.1956C>G (p.Arg652=) c.1950C>G (p.Arg650=) c.1947C>G (p.Arg649=) c.2007C>G (p.Arg669=) c.1998C>G (p.Arg666=) c.1917C>G (p.Arg639=) c.1866C>G (p.Arg622=) | |
14 | g.33800155C>T | CA486092837 | NPAS3 | c.1848C>T (p.Arg616=) c.1857C>T (p.Arg619=) c.1748C>T c.793+2574C>T c.1752C>T (p.Arg584=) c.1809C>T (p.Arg603=) c.1758C>T (p.Arg586=) c.1863C>T (p.Arg621=) c.1770C>T (p.Arg590=) c.1869C>T (p.Arg623=) c.1899C>T (p.Arg633=) c.1890C>T (p.Arg630=) c.1860C>T (p.Arg620=) c.1803C>T (p.Arg601=) c.1749C>T (p.Arg583=) c.1542C>T (p.Arg514=) c.1956C>T (p.Arg652=) c.1950C>T (p.Arg650=) c.1947C>T (p.Arg649=) c.2007C>T (p.Arg669=) c.1998C>T (p.Arg666=) c.1917C>T (p.Arg639=) c.1866C>T (p.Arg622=) | |
14 | g.33800156C>A | CA389412805 | NPAS3 | c.1849C>A (p.Leu617Met) c.1858C>A (p.Leu620Met) c.1749C>A c.793+2575C>A c.1753C>A (p.Leu585Met) c.1810C>A (p.Leu604Met) c.1759C>A (p.Leu587Met) c.1864C>A (p.Leu622Met) c.1771C>A (p.Leu591Met) c.1870C>A (p.Leu624Met) c.1900C>A (p.Leu634Met) c.1891C>A (p.Leu631Met) c.1861C>A (p.Leu621Met) c.1804C>A (p.Leu602Met) c.1750C>A (p.Leu584Met) c.1543C>A (p.Leu515Met) c.1957C>A (p.Leu653Met) c.1951C>A (p.Leu651Met) c.1948C>A (p.Leu650Met) c.2008C>A (p.Leu670Met) c.1999C>A (p.Leu667Met) c.1918C>A (p.Leu640Met) c.1867C>A (p.Leu623Met) | gnomAD v4 |
14 | g.33800156C>G | CA389412808 | NPAS3 | c.1849C>G (p.Leu617Val) c.1858C>G (p.Leu620Val) c.1749C>G c.793+2575C>G c.1753C>G (p.Leu585Val) c.1810C>G (p.Leu604Val) c.1759C>G (p.Leu587Val) c.1864C>G (p.Leu622Val) c.1771C>G (p.Leu591Val) c.1870C>G (p.Leu624Val) c.1900C>G (p.Leu634Val) c.1891C>G (p.Leu631Val) c.1861C>G (p.Leu621Val) c.1804C>G (p.Leu602Val) c.1750C>G (p.Leu584Val) c.1543C>G (p.Leu515Val) c.1957C>G (p.Leu653Val) c.1951C>G (p.Leu651Val) c.1948C>G (p.Leu650Val) c.2008C>G (p.Leu670Val) c.1999C>G (p.Leu667Val) c.1918C>G (p.Leu640Val) c.1867C>G (p.Leu623Val) | |
14 | g.33800156C>T | CA486092839 | NPAS3 | c.1849C>T (p.Leu617=) c.1858C>T (p.Leu620=) c.1749C>T c.793+2575C>T c.1753C>T (p.Leu585=) c.1810C>T (p.Leu604=) c.1759C>T (p.Leu587=) c.1864C>T (p.Leu622=) c.1771C>T (p.Leu591=) c.1870C>T (p.Leu624=) c.1900C>T (p.Leu634=) c.1891C>T (p.Leu631=) c.1861C>T (p.Leu621=) c.1804C>T (p.Leu602=) c.1750C>T (p.Leu584=) c.1543C>T (p.Leu515=) c.1957C>T (p.Leu653=) c.1951C>T (p.Leu651=) c.1948C>T (p.Leu650=) c.2008C>T (p.Leu670=) c.1999C>T (p.Leu667=) c.1918C>T (p.Leu640=) c.1867C>T (p.Leu623=) | |
14 | g.33800157T>A | CA389412812 | NPAS3 | c.1850T>A (p.Leu617Gln) c.1859T>A (p.Leu620Gln) c.1750T>A c.793+2576T>A c.1754T>A (p.Leu585Gln) c.1811T>A (p.Leu604Gln) c.1760T>A (p.Leu587Gln) c.1865T>A (p.Leu622Gln) c.1772T>A (p.Leu591Gln) c.1871T>A (p.Leu624Gln) c.1901T>A (p.Leu634Gln) c.1892T>A (p.Leu631Gln) c.1862T>A (p.Leu621Gln) c.1805T>A (p.Leu602Gln) c.1751T>A (p.Leu584Gln) c.1544T>A (p.Leu515Gln) c.1958T>A (p.Leu653Gln) c.1952T>A (p.Leu651Gln) c.1949T>A (p.Leu650Gln) c.2009T>A (p.Leu670Gln) c.2000T>A (p.Leu667Gln) c.1919T>A (p.Leu640Gln) c.1868T>A (p.Leu623Gln) | gnomAD v4 |
14 | g.33800157T>C | CA389412814 | NPAS3 | c.1850T>C (p.Leu617Pro) c.1859T>C (p.Leu620Pro) c.1750T>C c.793+2576T>C c.1754T>C (p.Leu585Pro) c.1811T>C (p.Leu604Pro) c.1760T>C (p.Leu587Pro) c.1865T>C (p.Leu622Pro) c.1772T>C (p.Leu591Pro) c.1871T>C (p.Leu624Pro) c.1901T>C (p.Leu634Pro) c.1892T>C (p.Leu631Pro) c.1862T>C (p.Leu621Pro) c.1805T>C (p.Leu602Pro) c.1751T>C (p.Leu584Pro) c.1544T>C (p.Leu515Pro) c.1958T>C (p.Leu653Pro) c.1952T>C (p.Leu651Pro) c.1949T>C (p.Leu650Pro) c.2009T>C (p.Leu670Pro) c.2000T>C (p.Leu667Pro) c.1919T>C (p.Leu640Pro) c.1868T>C (p.Leu623Pro) | gnomAD v4 |
14 | g.33800157T>G | CA389412816 | NPAS3 | c.1850T>G (p.Leu617Arg) c.1859T>G (p.Leu620Arg) c.1750T>G c.793+2576T>G c.1754T>G (p.Leu585Arg) c.1811T>G (p.Leu604Arg) c.1760T>G (p.Leu587Arg) c.1865T>G (p.Leu622Arg) c.1772T>G (p.Leu591Arg) c.1871T>G (p.Leu624Arg) c.1901T>G (p.Leu634Arg) c.1892T>G (p.Leu631Arg) c.1862T>G (p.Leu621Arg) c.1805T>G (p.Leu602Arg) c.1751T>G (p.Leu584Arg) c.1544T>G (p.Leu515Arg) c.1958T>G (p.Leu653Arg) c.1952T>G (p.Leu651Arg) c.1949T>G (p.Leu650Arg) c.2009T>G (p.Leu670Arg) c.2000T>G (p.Leu667Arg) c.1919T>G (p.Leu640Arg) c.1868T>G (p.Leu623Arg) |