Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.33800321G>ACA7150923NPAS3c.2014G>A (p.Glu672Lys)
c.2023G>A (p.Glu675Lys)
c.1914G>A
c.793+2740G>A
c.1918G>A (p.Glu640Lys)
c.1975G>A (p.Glu659Lys)
c.1924G>A (p.Glu642Lys)
c.2029G>A (p.Glu677Lys)
c.1936G>A (p.Glu646Lys)
c.2035G>A (p.Glu679Lys)
c.2065G>A (p.Glu689Lys)
c.2056G>A (p.Glu686Lys)
c.2026G>A (p.Glu676Lys)
c.1969G>A (p.Glu657Lys)
c.1915G>A (p.Glu639Lys)
c.1708G>A (p.Glu570Lys)
c.2122G>A (p.Glu708Lys)
c.2116G>A (p.Glu706Lys)
c.2113G>A (p.Glu705Lys)
c.2173G>A (p.Glu725Lys)
c.2164G>A (p.Glu722Lys)
c.2083G>A (p.Glu695Lys)
c.2032G>A (p.Glu678Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800321G>CCA389413517NPAS3c.2014G>C (p.Glu672Gln)
c.2023G>C (p.Glu675Gln)
c.1914G>C
c.793+2740G>C
c.1918G>C (p.Glu640Gln)
c.1975G>C (p.Glu659Gln)
c.1924G>C (p.Glu642Gln)
c.2029G>C (p.Glu677Gln)
c.1936G>C (p.Glu646Gln)
c.2035G>C (p.Glu679Gln)
c.2065G>C (p.Glu689Gln)
c.2056G>C (p.Glu686Gln)
c.2026G>C (p.Glu676Gln)
c.1969G>C (p.Glu657Gln)
c.1915G>C (p.Glu639Gln)
c.1708G>C (p.Glu570Gln)
c.2122G>C (p.Glu708Gln)
c.2116G>C (p.Glu706Gln)
c.2113G>C (p.Glu705Gln)
c.2173G>C (p.Glu725Gln)
c.2164G>C (p.Glu722Gln)
c.2083G>C (p.Glu695Gln)
c.2032G>C (p.Glu678Gln)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800321G=CA2128327255NPAS3c.2014G= (p.Glu672=)
c.2023G= (p.Glu675=)
c.1914G=
c.793+2740G=
c.1918G= (p.Glu640=)
c.1975G= (p.Glu659=)
c.1924G= (p.Glu642=)
c.2029G= (p.Glu677=)
c.1936G= (p.Glu646=)
c.2035G= (p.Glu679=)
c.2065G= (p.Glu689=)
c.2056G= (p.Glu686=)
c.2026G= (p.Glu676=)
c.1969G= (p.Glu657=)
c.1915G= (p.Glu639=)
c.1708G= (p.Glu570=)
c.2122G= (p.Glu708=)
c.2116G= (p.Glu706=)
c.2113G= (p.Glu705=)
c.2173G= (p.Glu725=)
c.2164G= (p.Glu722=)
c.2083G= (p.Glu695=)
c.2032G= (p.Glu678=)
14g.33800321G>TCA389413518NPAS3c.2014G>T (p.Glu672Ter)
c.2023G>T (p.Glu675Ter)
c.1914G>T
c.793+2740G>T
c.1918G>T (p.Glu640Ter)
c.1975G>T (p.Glu659Ter)
c.1924G>T (p.Glu642Ter)
c.2029G>T (p.Glu677Ter)
c.1936G>T (p.Glu646Ter)
c.2035G>T (p.Glu679Ter)
c.2065G>T (p.Glu689Ter)
c.2056G>T (p.Glu686Ter)
c.2026G>T (p.Glu676Ter)
c.1969G>T (p.Glu657Ter)
c.1915G>T (p.Glu639Ter)
c.1708G>T (p.Glu570Ter)
c.2122G>T (p.Glu708Ter)
c.2116G>T (p.Glu706Ter)
c.2113G>T (p.Glu705Ter)
c.2173G>T (p.Glu725Ter)
c.2164G>T (p.Glu722Ter)
c.2083G>T (p.Glu695Ter)
c.2032G>T (p.Glu678Ter)
 gnomAD v4
14g.33800322A>CCA389413521NPAS3c.2015A>C (p.Glu672Ala)
c.2024A>C (p.Glu675Ala)
c.1915A>C
c.793+2741A>C
c.1919A>C (p.Glu640Ala)
c.1976A>C (p.Glu659Ala)
c.1925A>C (p.Glu642Ala)
c.2030A>C (p.Glu677Ala)
c.1937A>C (p.Glu646Ala)
c.2036A>C (p.Glu679Ala)
c.2066A>C (p.Glu689Ala)
c.2057A>C (p.Glu686Ala)
c.2027A>C (p.Glu676Ala)
c.1970A>C (p.Glu657Ala)
c.1916A>C (p.Glu639Ala)
c.1709A>C (p.Glu570Ala)
c.2123A>C (p.Glu708Ala)
c.2117A>C (p.Glu706Ala)
c.2114A>C (p.Glu705Ala)
c.2174A>C (p.Glu725Ala)
c.2165A>C (p.Glu722Ala)
c.2084A>C (p.Glu695Ala)
c.2033A>C (p.Glu678Ala)
14g.33800322A>GCA389413523NPAS3c.2015A>G (p.Glu672Gly)
c.2024A>G (p.Glu675Gly)
c.1915A>G
c.793+2741A>G
c.1919A>G (p.Glu640Gly)
c.1976A>G (p.Glu659Gly)
c.1925A>G (p.Glu642Gly)
c.2030A>G (p.Glu677Gly)
c.1937A>G (p.Glu646Gly)
c.2036A>G (p.Glu679Gly)
c.2066A>G (p.Glu689Gly)
c.2057A>G (p.Glu686Gly)
c.2027A>G (p.Glu676Gly)
c.1970A>G (p.Glu657Gly)
c.1916A>G (p.Glu639Gly)
c.1709A>G (p.Glu570Gly)
c.2123A>G (p.Glu708Gly)
c.2117A>G (p.Glu706Gly)
c.2114A>G (p.Glu705Gly)
c.2174A>G (p.Glu725Gly)
c.2165A>G (p.Glu722Gly)
c.2084A>G (p.Glu695Gly)
c.2033A>G (p.Glu678Gly)
14g.33800322A>TCA389413525NPAS3c.2015A>T (p.Glu672Val)
c.2024A>T (p.Glu675Val)
c.1915A>T
c.793+2741A>T
c.1919A>T (p.Glu640Val)
c.1976A>T (p.Glu659Val)
c.1925A>T (p.Glu642Val)
c.2030A>T (p.Glu677Val)
c.1937A>T (p.Glu646Val)
c.2036A>T (p.Glu679Val)
c.2066A>T (p.Glu689Val)
c.2057A>T (p.Glu686Val)
c.2027A>T (p.Glu676Val)
c.1970A>T (p.Glu657Val)
c.1916A>T (p.Glu639Val)
c.1709A>T (p.Glu570Val)
c.2123A>T (p.Glu708Val)
c.2117A>T (p.Glu706Val)
c.2114A>T (p.Glu705Val)
c.2174A>T (p.Glu725Val)
c.2165A>T (p.Glu722Val)
c.2084A>T (p.Glu695Val)
c.2033A>T (p.Glu678Val)
14g.33800323G>ACA486093020NPAS3c.2016G>A (p.Glu672=)
c.2025G>A (p.Glu675=)
c.1916G>A
c.793+2742G>A
c.1920G>A (p.Glu640=)
c.1977G>A (p.Glu659=)
c.1926G>A (p.Glu642=)
c.2031G>A (p.Glu677=)
c.1938G>A (p.Glu646=)
c.2037G>A (p.Glu679=)
c.2067G>A (p.Glu689=)
c.2058G>A (p.Glu686=)
c.2028G>A (p.Glu676=)
c.1971G>A (p.Glu657=)
c.1917G>A (p.Glu639=)
c.1710G>A (p.Glu570=)
c.2124G>A (p.Glu708=)
c.2118G>A (p.Glu706=)
c.2115G>A (p.Glu705=)
c.2175G>A (p.Glu725=)
c.2166G>A (p.Glu722=)
c.2085G>A (p.Glu695=)
c.2034G>A (p.Glu678=)
 gnomAD v4
14g.33800323G>CCA389413527NPAS3c.2016G>C (p.Glu672Asp)
c.2025G>C (p.Glu675Asp)
c.1916G>C
c.793+2742G>C
c.1920G>C (p.Glu640Asp)
c.1977G>C (p.Glu659Asp)
c.1926G>C (p.Glu642Asp)
c.2031G>C (p.Glu677Asp)
c.1938G>C (p.Glu646Asp)
c.2037G>C (p.Glu679Asp)
c.2067G>C (p.Glu689Asp)
c.2058G>C (p.Glu686Asp)
c.2028G>C (p.Glu676Asp)
c.1971G>C (p.Glu657Asp)
c.1917G>C (p.Glu639Asp)
c.1710G>C (p.Glu570Asp)
c.2124G>C (p.Glu708Asp)
c.2118G>C (p.Glu706Asp)
c.2115G>C (p.Glu705Asp)
c.2175G>C (p.Glu725Asp)
c.2166G>C (p.Glu722Asp)
c.2085G>C (p.Glu695Asp)
c.2034G>C (p.Glu678Asp)
 dbSNP
14g.33800323G=CA2128327258NPAS3c.2016G= (p.Glu672=)
c.2025G= (p.Glu675=)
c.1916G=
c.793+2742G=
c.1920G= (p.Glu640=)
c.1977G= (p.Glu659=)
c.1926G= (p.Glu642=)
c.2031G= (p.Glu677=)
c.1938G= (p.Glu646=)
c.2037G= (p.Glu679=)
c.2067G= (p.Glu689=)
c.2058G= (p.Glu686=)
c.2028G= (p.Glu676=)
c.1971G= (p.Glu657=)
c.1917G= (p.Glu639=)
c.1710G= (p.Glu570=)
c.2124G= (p.Glu708=)
c.2118G= (p.Glu706=)
c.2115G= (p.Glu705=)
c.2175G= (p.Glu725=)
c.2166G= (p.Glu722=)
c.2085G= (p.Glu695=)
c.2034G= (p.Glu678=)
14g.33800323G>TCA389413529NPAS3c.2016G>T (p.Glu672Asp)
c.2025G>T (p.Glu675Asp)
c.1916G>T
c.793+2742G>T
c.1920G>T (p.Glu640Asp)
c.1977G>T (p.Glu659Asp)
c.1926G>T (p.Glu642Asp)
c.2031G>T (p.Glu677Asp)
c.1938G>T (p.Glu646Asp)
c.2037G>T (p.Glu679Asp)
c.2067G>T (p.Glu689Asp)
c.2058G>T (p.Glu686Asp)
c.2028G>T (p.Glu676Asp)
c.1971G>T (p.Glu657Asp)
c.1917G>T (p.Glu639Asp)
c.1710G>T (p.Glu570Asp)
c.2124G>T (p.Glu708Asp)
c.2118G>T (p.Glu706Asp)
c.2115G>T (p.Glu705Asp)
c.2175G>T (p.Glu725Asp)
c.2166G>T (p.Glu722Asp)
c.2085G>T (p.Glu695Asp)
c.2034G>T (p.Glu678Asp)
14g.33800324A>CCA389413534NPAS3c.2017A>C (p.Ile673Leu)
c.2026A>C (p.Ile676Leu)
c.1917A>C
c.793+2743A>C
c.1921A>C (p.Ile641Leu)
c.1978A>C (p.Ile660Leu)
c.1927A>C (p.Ile643Leu)
c.2032A>C (p.Ile678Leu)
c.1939A>C (p.Ile647Leu)
c.2038A>C (p.Ile680Leu)
c.2068A>C (p.Ile690Leu)
c.2059A>C (p.Ile687Leu)
c.2029A>C (p.Ile677Leu)
c.1972A>C (p.Ile658Leu)
c.1918A>C (p.Ile640Leu)
c.1711A>C (p.Ile571Leu)
c.2125A>C (p.Ile709Leu)
c.2119A>C (p.Ile707Leu)
c.2116A>C (p.Ile706Leu)
c.2176A>C (p.Ile726Leu)
c.2167A>C (p.Ile723Leu)
c.2086A>C (p.Ile696Leu)
c.2035A>C (p.Ile679Leu)
 COSMIC COSMIC
14g.33800324A>GCA389413533NPAS3c.2017A>G (p.Ile673Val)
c.2026A>G (p.Ile676Val)
c.1917A>G
c.793+2743A>G
c.1921A>G (p.Ile641Val)
c.1978A>G (p.Ile660Val)
c.1927A>G (p.Ile643Val)
c.2032A>G (p.Ile678Val)
c.1939A>G (p.Ile647Val)
c.2038A>G (p.Ile680Val)
c.2068A>G (p.Ile690Val)
c.2059A>G (p.Ile687Val)
c.2029A>G (p.Ile677Val)
c.1972A>G (p.Ile658Val)
c.1918A>G (p.Ile640Val)
c.1711A>G (p.Ile571Val)
c.2125A>G (p.Ile709Val)
c.2119A>G (p.Ile707Val)
c.2116A>G (p.Ile706Val)
c.2176A>G (p.Ile726Val)
c.2167A>G (p.Ile723Val)
c.2086A>G (p.Ile696Val)
c.2035A>G (p.Ile679Val)
14g.33800324A>TCA389413531NPAS3c.2017A>T (p.Ile673Phe)
c.2026A>T (p.Ile676Phe)
c.1917A>T
c.793+2743A>T
c.1921A>T (p.Ile641Phe)
c.1978A>T (p.Ile660Phe)
c.1927A>T (p.Ile643Phe)
c.2032A>T (p.Ile678Phe)
c.1939A>T (p.Ile647Phe)
c.2038A>T (p.Ile680Phe)
c.2068A>T (p.Ile690Phe)
c.2059A>T (p.Ile687Phe)
c.2029A>T (p.Ile677Phe)
c.1972A>T (p.Ile658Phe)
c.1918A>T (p.Ile640Phe)
c.1711A>T (p.Ile571Phe)
c.2125A>T (p.Ile709Phe)
c.2119A>T (p.Ile707Phe)
c.2116A>T (p.Ile706Phe)
c.2176A>T (p.Ile726Phe)
c.2167A>T (p.Ile723Phe)
c.2086A>T (p.Ile696Phe)
c.2035A>T (p.Ile679Phe)
14g.33800325T>ACA389413535NPAS3c.2018T>A (p.Ile673Asn)
c.2027T>A (p.Ile676Asn)
c.1918T>A
c.793+2744T>A
c.1922T>A (p.Ile641Asn)
c.1979T>A (p.Ile660Asn)
c.1928T>A (p.Ile643Asn)
c.2033T>A (p.Ile678Asn)
c.1940T>A (p.Ile647Asn)
c.2039T>A (p.Ile680Asn)
c.2069T>A (p.Ile690Asn)
c.2060T>A (p.Ile687Asn)
c.2030T>A (p.Ile677Asn)
c.1973T>A (p.Ile658Asn)
c.1919T>A (p.Ile640Asn)
c.1712T>A (p.Ile571Asn)
c.2126T>A (p.Ile709Asn)
c.2120T>A (p.Ile707Asn)
c.2117T>A (p.Ile706Asn)
c.2177T>A (p.Ile726Asn)
c.2168T>A (p.Ile723Asn)
c.2087T>A (p.Ile696Asn)
c.2036T>A (p.Ile679Asn)
14g.33800325T>CCA389413537NPAS3c.2018T>C (p.Ile673Thr)
c.2027T>C (p.Ile676Thr)
c.1918T>C
c.793+2744T>C
c.1922T>C (p.Ile641Thr)
c.1979T>C (p.Ile660Thr)
c.1928T>C (p.Ile643Thr)
c.2033T>C (p.Ile678Thr)
c.1940T>C (p.Ile647Thr)
c.2039T>C (p.Ile680Thr)
c.2069T>C (p.Ile690Thr)
c.2060T>C (p.Ile687Thr)
c.2030T>C (p.Ile677Thr)
c.1973T>C (p.Ile658Thr)
c.1919T>C (p.Ile640Thr)
c.1712T>C (p.Ile571Thr)
c.2126T>C (p.Ile709Thr)
c.2120T>C (p.Ile707Thr)
c.2117T>C (p.Ile706Thr)
c.2177T>C (p.Ile726Thr)
c.2168T>C (p.Ile723Thr)
c.2087T>C (p.Ile696Thr)
c.2036T>C (p.Ile679Thr)
 dbSNP gnomAD v4
14g.33800325T>GCA389413539NPAS3c.2018T>G (p.Ile673Ser)
c.2027T>G (p.Ile676Ser)
c.1918T>G
c.793+2744T>G
c.1922T>G (p.Ile641Ser)
c.1979T>G (p.Ile660Ser)
c.1928T>G (p.Ile643Ser)
c.2033T>G (p.Ile678Ser)
c.1940T>G (p.Ile647Ser)
c.2039T>G (p.Ile680Ser)
c.2069T>G (p.Ile690Ser)
c.2060T>G (p.Ile687Ser)
c.2030T>G (p.Ile677Ser)
c.1973T>G (p.Ile658Ser)
c.1919T>G (p.Ile640Ser)
c.1712T>G (p.Ile571Ser)
c.2126T>G (p.Ile709Ser)
c.2120T>G (p.Ile707Ser)
c.2117T>G (p.Ile706Ser)
c.2177T>G (p.Ile726Ser)
c.2168T>G (p.Ile723Ser)
c.2087T>G (p.Ile696Ser)
c.2036T>G (p.Ile679Ser)
14g.33800325T=CA2128327261NPAS3c.2018T= (p.Ile673=)
c.2027T= (p.Ile676=)
c.1918T=
c.793+2744T=
c.1922T= (p.Ile641=)
c.1979T= (p.Ile660=)
c.1928T= (p.Ile643=)
c.2033T= (p.Ile678=)
c.1940T= (p.Ile647=)
c.2039T= (p.Ile680=)
c.2069T= (p.Ile690=)
c.2060T= (p.Ile687=)
c.2030T= (p.Ile677=)
c.1973T= (p.Ile658=)
c.1919T= (p.Ile640=)
c.1712T= (p.Ile571=)
c.2126T= (p.Ile709=)
c.2120T= (p.Ile707=)
c.2117T= (p.Ile706=)
c.2177T= (p.Ile726=)
c.2168T= (p.Ile723=)
c.2087T= (p.Ile696=)
c.2036T= (p.Ile679=)
14g.33800326C>ACA486093021NPAS3c.2019C>A (p.Ile673=)
c.2028C>A (p.Ile676=)
c.1919C>A
c.793+2745C>A
c.1923C>A (p.Ile641=)
c.1980C>A (p.Ile660=)
c.1929C>A (p.Ile643=)
c.2034C>A (p.Ile678=)
c.1941C>A (p.Ile647=)
c.2040C>A (p.Ile680=)
c.2070C>A (p.Ile690=)
c.2061C>A (p.Ile687=)
c.2031C>A (p.Ile677=)
c.1974C>A (p.Ile658=)
c.1920C>A (p.Ile640=)
c.1713C>A (p.Ile571=)
c.2127C>A (p.Ile709=)
c.2121C>A (p.Ile707=)
c.2118C>A (p.Ile706=)
c.2178C>A (p.Ile726=)
c.2169C>A (p.Ile723=)
c.2088C>A (p.Ile696=)
c.2037C>A (p.Ile679=)
14g.33800326C>GCA389413540NPAS3c.2019C>G (p.Ile673Met)
c.2028C>G (p.Ile676Met)
c.1919C>G
c.793+2745C>G
c.1923C>G (p.Ile641Met)
c.1980C>G (p.Ile660Met)
c.1929C>G (p.Ile643Met)
c.2034C>G (p.Ile678Met)
c.1941C>G (p.Ile647Met)
c.2040C>G (p.Ile680Met)
c.2070C>G (p.Ile690Met)
c.2061C>G (p.Ile687Met)
c.2031C>G (p.Ile677Met)
c.1974C>G (p.Ile658Met)
c.1920C>G (p.Ile640Met)
c.1713C>G (p.Ile571Met)
c.2127C>G (p.Ile709Met)
c.2121C>G (p.Ile707Met)
c.2118C>G (p.Ile706Met)
c.2178C>G (p.Ile726Met)
c.2169C>G (p.Ile723Met)
c.2088C>G (p.Ile696Met)
c.2037C>G (p.Ile679Met)
14g.33800326C>TCA486093022NPAS3c.2019C>T (p.Ile673=)
c.2028C>T (p.Ile676=)
c.1919C>T
c.793+2745C>T
c.1923C>T (p.Ile641=)
c.1980C>T (p.Ile660=)
c.1929C>T (p.Ile643=)
c.2034C>T (p.Ile678=)
c.1941C>T (p.Ile647=)
c.2040C>T (p.Ile680=)
c.2070C>T (p.Ile690=)
c.2061C>T (p.Ile687=)
c.2031C>T (p.Ile677=)
c.1974C>T (p.Ile658=)
c.1920C>T (p.Ile640=)
c.1713C>T (p.Ile571=)
c.2127C>T (p.Ile709=)
c.2121C>T (p.Ile707=)
c.2118C>T (p.Ile706=)
c.2178C>T (p.Ile726=)
c.2169C>T (p.Ile723=)
c.2088C>T (p.Ile696=)
c.2037C>T (p.Ile679=)
14g.33800327T>ACA389413543NPAS3c.2020T>A (p.Ser674Thr)
c.2029T>A (p.Ser677Thr)
c.1920T>A
c.793+2746T>A
c.1924T>A (p.Ser642Thr)
c.1981T>A (p.Ser661Thr)
c.1930T>A (p.Ser644Thr)
c.2035T>A (p.Ser679Thr)
c.1942T>A (p.Ser648Thr)
c.2041T>A (p.Ser681Thr)
c.2071T>A (p.Ser691Thr)
c.2062T>A (p.Ser688Thr)
c.2032T>A (p.Ser678Thr)
c.1975T>A (p.Ser659Thr)
c.1921T>A (p.Ser641Thr)
c.1714T>A (p.Ser572Thr)
c.2128T>A (p.Ser710Thr)
c.2122T>A (p.Ser708Thr)
c.2119T>A (p.Ser707Thr)
c.2179T>A (p.Ser727Thr)
c.2170T>A (p.Ser724Thr)
c.2089T>A (p.Ser697Thr)
c.2038T>A (p.Ser680Thr)
14g.33800327T>CCA389413545NPAS3c.2020T>C (p.Ser674Pro)
c.2029T>C (p.Ser677Pro)
c.1920T>C
c.793+2746T>C
c.1924T>C (p.Ser642Pro)
c.1981T>C (p.Ser661Pro)
c.1930T>C (p.Ser644Pro)
c.2035T>C (p.Ser679Pro)
c.1942T>C (p.Ser648Pro)
c.2041T>C (p.Ser681Pro)
c.2071T>C (p.Ser691Pro)
c.2062T>C (p.Ser688Pro)
c.2032T>C (p.Ser678Pro)
c.1975T>C (p.Ser659Pro)
c.1921T>C (p.Ser641Pro)
c.1714T>C (p.Ser572Pro)
c.2128T>C (p.Ser710Pro)
c.2122T>C (p.Ser708Pro)
c.2119T>C (p.Ser707Pro)
c.2179T>C (p.Ser727Pro)
c.2170T>C (p.Ser724Pro)
c.2089T>C (p.Ser697Pro)
c.2038T>C (p.Ser680Pro)
14g.33800327T>GCA389413547NPAS3c.2020T>G (p.Ser674Ala)
c.2029T>G (p.Ser677Ala)
c.1920T>G
c.793+2746T>G
c.1924T>G (p.Ser642Ala)
c.1981T>G (p.Ser661Ala)
c.1930T>G (p.Ser644Ala)
c.2035T>G (p.Ser679Ala)
c.1942T>G (p.Ser648Ala)
c.2041T>G (p.Ser681Ala)
c.2071T>G (p.Ser691Ala)
c.2062T>G (p.Ser688Ala)
c.2032T>G (p.Ser678Ala)
c.1975T>G (p.Ser659Ala)
c.1921T>G (p.Ser641Ala)
c.1714T>G (p.Ser572Ala)
c.2128T>G (p.Ser710Ala)
c.2122T>G (p.Ser708Ala)
c.2119T>G (p.Ser707Ala)
c.2179T>G (p.Ser727Ala)
c.2170T>G (p.Ser724Ala)
c.2089T>G (p.Ser697Ala)
c.2038T>G (p.Ser680Ala)
14g.33800328C>ACA389413549NPAS3c.2021C>A (p.Ser674Tyr)
c.2030C>A (p.Ser677Tyr)
c.1921C>A
c.793+2747C>A
c.1925C>A (p.Ser642Tyr)
c.1982C>A (p.Ser661Tyr)
c.1931C>A (p.Ser644Tyr)
c.2036C>A (p.Ser679Tyr)
c.1943C>A (p.Ser648Tyr)
c.2042C>A (p.Ser681Tyr)
c.2072C>A (p.Ser691Tyr)
c.2063C>A (p.Ser688Tyr)
c.2033C>A (p.Ser678Tyr)
c.1976C>A (p.Ser659Tyr)
c.1922C>A (p.Ser641Tyr)
c.1715C>A (p.Ser572Tyr)
c.2129C>A (p.Ser710Tyr)
c.2123C>A (p.Ser708Tyr)
c.2120C>A (p.Ser707Tyr)
c.2180C>A (p.Ser727Tyr)
c.2171C>A (p.Ser724Tyr)
c.2090C>A (p.Ser697Tyr)
c.2039C>A (p.Ser680Tyr)
14g.33800328C>GCA389413551NPAS3c.2021C>G (p.Ser674Cys)
c.2030C>G (p.Ser677Cys)
c.1921C>G
c.793+2747C>G
c.1925C>G (p.Ser642Cys)
c.1982C>G (p.Ser661Cys)
c.1931C>G (p.Ser644Cys)
c.2036C>G (p.Ser679Cys)
c.1943C>G (p.Ser648Cys)
c.2042C>G (p.Ser681Cys)
c.2072C>G (p.Ser691Cys)
c.2063C>G (p.Ser688Cys)
c.2033C>G (p.Ser678Cys)
c.1976C>G (p.Ser659Cys)
c.1922C>G (p.Ser641Cys)
c.1715C>G (p.Ser572Cys)
c.2129C>G (p.Ser710Cys)
c.2123C>G (p.Ser708Cys)
c.2120C>G (p.Ser707Cys)
c.2180C>G (p.Ser727Cys)
c.2171C>G (p.Ser724Cys)
c.2090C>G (p.Ser697Cys)
c.2039C>G (p.Ser680Cys)
 gnomAD v4
14g.33800328C>TCA389413553NPAS3c.2021C>T (p.Ser674Phe)
c.2030C>T (p.Ser677Phe)
c.1921C>T
c.793+2747C>T
c.1925C>T (p.Ser642Phe)
c.1982C>T (p.Ser661Phe)
c.1931C>T (p.Ser644Phe)
c.2036C>T (p.Ser679Phe)
c.1943C>T (p.Ser648Phe)
c.2042C>T (p.Ser681Phe)
c.2072C>T (p.Ser691Phe)
c.2063C>T (p.Ser688Phe)
c.2033C>T (p.Ser678Phe)
c.1976C>T (p.Ser659Phe)
c.1922C>T (p.Ser641Phe)
c.1715C>T (p.Ser572Phe)
c.2129C>T (p.Ser710Phe)
c.2123C>T (p.Ser708Phe)
c.2120C>T (p.Ser707Phe)
c.2180C>T (p.Ser727Phe)
c.2171C>T (p.Ser724Phe)
c.2090C>T (p.Ser697Phe)
c.2039C>T (p.Ser680Phe)
14g.33800329C>ACA486093023NPAS3c.2022C>A (p.Ser674=)
c.2031C>A (p.Ser677=)
c.1922C>A
c.793+2748C>A
c.1926C>A (p.Ser642=)
c.1983C>A (p.Ser661=)
c.1932C>A (p.Ser644=)
c.2037C>A (p.Ser679=)
c.1944C>A (p.Ser648=)
c.2043C>A (p.Ser681=)
c.2073C>A (p.Ser691=)
c.2064C>A (p.Ser688=)
c.2034C>A (p.Ser678=)
c.1977C>A (p.Ser659=)
c.1923C>A (p.Ser641=)
c.1716C>A (p.Ser572=)
c.2130C>A (p.Ser710=)
c.2124C>A (p.Ser708=)
c.2121C>A (p.Ser707=)
c.2181C>A (p.Ser727=)
c.2172C>A (p.Ser724=)
c.2091C>A (p.Ser697=)
c.2040C>A (p.Ser680=)
 COSMIC COSMIC
14g.33800329C>GCA486093024NPAS3c.2022C>G (p.Ser674=)
c.2031C>G (p.Ser677=)
c.1922C>G
c.793+2748C>G
c.1926C>G (p.Ser642=)
c.1983C>G (p.Ser661=)
c.1932C>G (p.Ser644=)
c.2037C>G (p.Ser679=)
c.1944C>G (p.Ser648=)
c.2043C>G (p.Ser681=)
c.2073C>G (p.Ser691=)
c.2064C>G (p.Ser688=)
c.2034C>G (p.Ser678=)
c.1977C>G (p.Ser659=)
c.1923C>G (p.Ser641=)
c.1716C>G (p.Ser572=)
c.2130C>G (p.Ser710=)
c.2124C>G (p.Ser708=)
c.2121C>G (p.Ser707=)
c.2181C>G (p.Ser727=)
c.2172C>G (p.Ser724=)
c.2091C>G (p.Ser697=)
c.2040C>G (p.Ser680=)
14g.33800329C>TCA486093025NPAS3c.2022C>T (p.Ser674=)
c.2031C>T (p.Ser677=)
c.1922C>T
c.793+2748C>T
c.1926C>T (p.Ser642=)
c.1983C>T (p.Ser661=)
c.1932C>T (p.Ser644=)
c.2037C>T (p.Ser679=)
c.1944C>T (p.Ser648=)
c.2043C>T (p.Ser681=)
c.2073C>T (p.Ser691=)
c.2064C>T (p.Ser688=)
c.2034C>T (p.Ser678=)
c.1977C>T (p.Ser659=)
c.1923C>T (p.Ser641=)
c.1716C>T (p.Ser572=)
c.2130C>T (p.Ser710=)
c.2124C>T (p.Ser708=)
c.2121C>T (p.Ser707=)
c.2181C>T (p.Ser727=)
c.2172C>T (p.Ser724=)
c.2091C>T (p.Ser697=)
c.2040C>T (p.Ser680=)
14g.33800330A>CCA486093026NPAS3c.2023A>C (p.Arg675=)
c.2032A>C (p.Arg678=)
c.1923A>C
c.793+2749A>C
c.1927A>C (p.Arg643=)
c.1984A>C (p.Arg662=)
c.1933A>C (p.Arg645=)
c.2038A>C (p.Arg680=)
c.1945A>C (p.Arg649=)
c.2044A>C (p.Arg682=)
c.2074A>C (p.Arg692=)
c.2065A>C (p.Arg689=)
c.2035A>C (p.Arg679=)
c.1978A>C (p.Arg660=)
c.1924A>C (p.Arg642=)
c.1717A>C (p.Arg573=)
c.2131A>C (p.Arg711=)
c.2125A>C (p.Arg709=)
c.2122A>C (p.Arg708=)
c.2182A>C (p.Arg728=)
c.2173A>C (p.Arg725=)
c.2092A>C (p.Arg698=)
c.2041A>C (p.Arg681=)
14g.33800330A>GCA389413555NPAS3c.2023A>G (p.Arg675Gly)
c.2032A>G (p.Arg678Gly)
c.1923A>G
c.793+2749A>G
c.1927A>G (p.Arg643Gly)
c.1984A>G (p.Arg662Gly)
c.1933A>G (p.Arg645Gly)
c.2038A>G (p.Arg680Gly)
c.1945A>G (p.Arg649Gly)
c.2044A>G (p.Arg682Gly)
c.2074A>G (p.Arg692Gly)
c.2065A>G (p.Arg689Gly)
c.2035A>G (p.Arg679Gly)
c.1978A>G (p.Arg660Gly)
c.1924A>G (p.Arg642Gly)
c.1717A>G (p.Arg573Gly)
c.2131A>G (p.Arg711Gly)
c.2125A>G (p.Arg709Gly)
c.2122A>G (p.Arg708Gly)
c.2182A>G (p.Arg728Gly)
c.2173A>G (p.Arg725Gly)
c.2092A>G (p.Arg698Gly)
c.2041A>G (p.Arg681Gly)
 gnomAD v4
14g.33800330A>TCA389413559NPAS3c.2023A>T (p.Arg675Trp)
c.2032A>T (p.Arg678Trp)
c.1923A>T
c.793+2749A>T
c.1927A>T (p.Arg643Trp)
c.1984A>T (p.Arg662Trp)
c.1933A>T (p.Arg645Trp)
c.2038A>T (p.Arg680Trp)
c.1945A>T (p.Arg649Trp)
c.2044A>T (p.Arg682Trp)
c.2074A>T (p.Arg692Trp)
c.2065A>T (p.Arg689Trp)
c.2035A>T (p.Arg679Trp)
c.1978A>T (p.Arg660Trp)
c.1924A>T (p.Arg642Trp)
c.1717A>T (p.Arg573Trp)
c.2131A>T (p.Arg711Trp)
c.2125A>T (p.Arg709Trp)
c.2122A>T (p.Arg708Trp)
c.2182A>T (p.Arg728Trp)
c.2173A>T (p.Arg725Trp)
c.2092A>T (p.Arg698Trp)
c.2041A>T (p.Arg681Trp)
14g.33800331G>ACA389413564NPAS3c.2024G>A (p.Arg675Lys)
c.2033G>A (p.Arg678Lys)
c.1924G>A
c.793+2750G>A
c.1928G>A (p.Arg643Lys)
c.1985G>A (p.Arg662Lys)
c.1934G>A (p.Arg645Lys)
c.2039G>A (p.Arg680Lys)
c.1946G>A (p.Arg649Lys)
c.2045G>A (p.Arg682Lys)
c.2075G>A (p.Arg692Lys)
c.2066G>A (p.Arg689Lys)
c.2036G>A (p.Arg679Lys)
c.1979G>A (p.Arg660Lys)
c.1925G>A (p.Arg642Lys)
c.1718G>A (p.Arg573Lys)
c.2132G>A (p.Arg711Lys)
c.2126G>A (p.Arg709Lys)
c.2123G>A (p.Arg708Lys)
c.2183G>A (p.Arg728Lys)
c.2174G>A (p.Arg725Lys)
c.2093G>A (p.Arg698Lys)
c.2042G>A (p.Arg681Lys)
14g.33800331G>CCA389413565NPAS3c.2024G>C (p.Arg675Thr)
c.2033G>C (p.Arg678Thr)
c.1924G>C
c.793+2750G>C
c.1928G>C (p.Arg643Thr)
c.1985G>C (p.Arg662Thr)
c.1934G>C (p.Arg645Thr)
c.2039G>C (p.Arg680Thr)
c.1946G>C (p.Arg649Thr)
c.2045G>C (p.Arg682Thr)
c.2075G>C (p.Arg692Thr)
c.2066G>C (p.Arg689Thr)
c.2036G>C (p.Arg679Thr)
c.1979G>C (p.Arg660Thr)
c.1925G>C (p.Arg642Thr)
c.1718G>C (p.Arg573Thr)
c.2132G>C (p.Arg711Thr)
c.2126G>C (p.Arg709Thr)
c.2123G>C (p.Arg708Thr)
c.2183G>C (p.Arg728Thr)
c.2174G>C (p.Arg725Thr)
c.2093G>C (p.Arg698Thr)
c.2042G>C (p.Arg681Thr)
 dbSNP
14g.33800331G=CA2128327265NPAS3c.2024G= (p.Arg675=)
c.2033G= (p.Arg678=)
c.1924G=
c.793+2750G=
c.1928G= (p.Arg643=)
c.1985G= (p.Arg662=)
c.1934G= (p.Arg645=)
c.2039G= (p.Arg680=)
c.1946G= (p.Arg649=)
c.2045G= (p.Arg682=)
c.2075G= (p.Arg692=)
c.2066G= (p.Arg689=)
c.2036G= (p.Arg679=)
c.1979G= (p.Arg660=)
c.1925G= (p.Arg642=)
c.1718G= (p.Arg573=)
c.2132G= (p.Arg711=)
c.2126G= (p.Arg709=)
c.2123G= (p.Arg708=)
c.2183G= (p.Arg728=)
c.2174G= (p.Arg725=)
c.2093G= (p.Arg698=)
c.2042G= (p.Arg681=)
14g.33800331G>TCA389413562NPAS3c.2024G>T (p.Arg675Met)
c.2033G>T (p.Arg678Met)
c.1924G>T
c.793+2750G>T
c.1928G>T (p.Arg643Met)
c.1985G>T (p.Arg662Met)
c.1934G>T (p.Arg645Met)
c.2039G>T (p.Arg680Met)
c.1946G>T (p.Arg649Met)
c.2045G>T (p.Arg682Met)
c.2075G>T (p.Arg692Met)
c.2066G>T (p.Arg689Met)
c.2036G>T (p.Arg679Met)
c.1979G>T (p.Arg660Met)
c.1925G>T (p.Arg642Met)
c.1718G>T (p.Arg573Met)
c.2132G>T (p.Arg711Met)
c.2126G>T (p.Arg709Met)
c.2123G>T (p.Arg708Met)
c.2183G>T (p.Arg728Met)
c.2174G>T (p.Arg725Met)
c.2093G>T (p.Arg698Met)
c.2042G>T (p.Arg681Met)
14g.33800331_33800332delinsAACA645582789NPAS3c.2024_2025delinsAA (p.Arg675Lys)
c.2033_2034delinsAA (p.Arg678Lys)
c.1924_1925delinsAA
c.793+2750_793+2751delinsAA
c.1928_1929delinsAA (p.Arg643Lys)
c.1985_1986delinsAA (p.Arg662Lys)
c.1934_1935delinsAA (p.Arg645Lys)
c.2039_2040delinsAA (p.Arg680Lys)
c.1946_1947delinsAA (p.Arg649Lys)
c.2045_2046delinsAA (p.Arg682Lys)
c.2075_2076delinsAA (p.Arg692Lys)
c.2066_2067delinsAA (p.Arg689Lys)
c.2036_2037delinsAA (p.Arg679Lys)
c.1979_1980delinsAA (p.Arg660Lys)
c.1925_1926delinsAA (p.Arg642Lys)
c.1718_1719delinsAA (p.Arg573Lys)
c.2132_2133delinsAA (p.Arg711Lys)
c.2126_2127delinsAA (p.Arg709Lys)
c.2123_2124delinsAA (p.Arg708Lys)
c.2183_2184delinsAA (p.Arg728Lys)
c.2174_2175delinsAA (p.Arg725Lys)
c.2093_2094delinsAA (p.Arg698Lys)
c.2042_2043delinsAA (p.Arg681Lys)
 COSMIC COSMIC COSMIC
14g.33800332G>ACA486093027NPAS3c.2025G>A (p.Arg675=)
c.2034G>A (p.Arg678=)
c.1925G>A
c.793+2751G>A
c.1929G>A (p.Arg643=)
c.1986G>A (p.Arg662=)
c.1935G>A (p.Arg645=)
c.2040G>A (p.Arg680=)
c.1947G>A (p.Arg649=)
c.2046G>A (p.Arg682=)
c.2076G>A (p.Arg692=)
c.2067G>A (p.Arg689=)
c.2037G>A (p.Arg679=)
c.1980G>A (p.Arg660=)
c.1926G>A (p.Arg642=)
c.1719G>A (p.Arg573=)
c.2133G>A (p.Arg711=)
c.2127G>A (p.Arg709=)
c.2124G>A (p.Arg708=)
c.2184G>A (p.Arg728=)
c.2175G>A (p.Arg725=)
c.2094G>A (p.Arg698=)
c.2043G>A (p.Arg681=)
 dbSNP gnomAD v3 gnomAD v4
14g.33800332G>CCA389413569NPAS3c.2025G>C (p.Arg675Ser)
c.2034G>C (p.Arg678Ser)
c.1925G>C
c.793+2751G>C
c.1929G>C (p.Arg643Ser)
c.1986G>C (p.Arg662Ser)
c.1935G>C (p.Arg645Ser)
c.2040G>C (p.Arg680Ser)
c.1947G>C (p.Arg649Ser)
c.2046G>C (p.Arg682Ser)
c.2076G>C (p.Arg692Ser)
c.2067G>C (p.Arg689Ser)
c.2037G>C (p.Arg679Ser)
c.1980G>C (p.Arg660Ser)
c.1926G>C (p.Arg642Ser)
c.1719G>C (p.Arg573Ser)
c.2133G>C (p.Arg711Ser)
c.2127G>C (p.Arg709Ser)
c.2124G>C (p.Arg708Ser)
c.2184G>C (p.Arg728Ser)
c.2175G>C (p.Arg725Ser)
c.2094G>C (p.Arg698Ser)
c.2043G>C (p.Arg681Ser)
14g.33800332G=CA2128327268NPAS3c.2025G= (p.Arg675=)
c.2034G= (p.Arg678=)
c.1925G=
c.793+2751G=
c.1929G= (p.Arg643=)
c.1986G= (p.Arg662=)
c.1935G= (p.Arg645=)
c.2040G= (p.Arg680=)
c.1947G= (p.Arg649=)
c.2046G= (p.Arg682=)
c.2076G= (p.Arg692=)
c.2067G= (p.Arg689=)
c.2037G= (p.Arg679=)
c.1980G= (p.Arg660=)
c.1926G= (p.Arg642=)
c.1719G= (p.Arg573=)
c.2133G= (p.Arg711=)
c.2127G= (p.Arg709=)
c.2124G= (p.Arg708=)
c.2184G= (p.Arg728=)
c.2175G= (p.Arg725=)
c.2094G= (p.Arg698=)
c.2043G= (p.Arg681=)
14g.33800332G>TCA389413570NPAS3c.2025G>T (p.Arg675Ser)
c.2034G>T (p.Arg678Ser)
c.1925G>T
c.793+2751G>T
c.1929G>T (p.Arg643Ser)
c.1986G>T (p.Arg662Ser)
c.1935G>T (p.Arg645Ser)
c.2040G>T (p.Arg680Ser)
c.1947G>T (p.Arg649Ser)
c.2046G>T (p.Arg682Ser)
c.2076G>T (p.Arg692Ser)
c.2067G>T (p.Arg689Ser)
c.2037G>T (p.Arg679Ser)
c.1980G>T (p.Arg660Ser)
c.1926G>T (p.Arg642Ser)
c.1719G>T (p.Arg573Ser)
c.2133G>T (p.Arg711Ser)
c.2127G>T (p.Arg709Ser)
c.2124G>T (p.Arg708Ser)
c.2184G>T (p.Arg728Ser)
c.2175G>T (p.Arg725Ser)
c.2094G>T (p.Arg698Ser)
c.2043G>T (p.Arg681Ser)
14g.33800333A>CCA389413573NPAS3c.2026A>C (p.Asn676His)
c.2035A>C (p.Asn679His)
c.1926A>C
c.793+2752A>C
c.1930A>C (p.Asn644His)
c.1987A>C (p.Asn663His)
c.1936A>C (p.Asn646His)
c.2041A>C (p.Asn681His)
c.1948A>C (p.Asn650His)
c.2047A>C (p.Asn683His)
c.2077A>C (p.Asn693His)
c.2068A>C (p.Asn690His)
c.2038A>C (p.Asn680His)
c.1981A>C (p.Asn661His)
c.1927A>C (p.Asn643His)
c.1720A>C (p.Asn574His)
c.2134A>C (p.Asn712His)
c.2128A>C (p.Asn710His)
c.2125A>C (p.Asn709His)
c.2185A>C (p.Asn729His)
c.2176A>C (p.Asn726His)
c.2095A>C (p.Asn699His)
c.2044A>C (p.Asn682His)
14g.33800333A>GCA389413575NPAS3c.2026A>G (p.Asn676Asp)
c.2035A>G (p.Asn679Asp)
c.1926A>G
c.793+2752A>G
c.1930A>G (p.Asn644Asp)
c.1987A>G (p.Asn663Asp)
c.1936A>G (p.Asn646Asp)
c.2041A>G (p.Asn681Asp)
c.1948A>G (p.Asn650Asp)
c.2047A>G (p.Asn683Asp)
c.2077A>G (p.Asn693Asp)
c.2068A>G (p.Asn690Asp)
c.2038A>G (p.Asn680Asp)
c.1981A>G (p.Asn661Asp)
c.1927A>G (p.Asn643Asp)
c.1720A>G (p.Asn574Asp)
c.2134A>G (p.Asn712Asp)
c.2128A>G (p.Asn710Asp)
c.2125A>G (p.Asn709Asp)
c.2185A>G (p.Asn729Asp)
c.2176A>G (p.Asn726Asp)
c.2095A>G (p.Asn699Asp)
c.2044A>G (p.Asn682Asp)
14g.33800333A>TCA389413576NPAS3c.2026A>T (p.Asn676Tyr)
c.2035A>T (p.Asn679Tyr)
c.1926A>T
c.793+2752A>T
c.1930A>T (p.Asn644Tyr)
c.1987A>T (p.Asn663Tyr)
c.1936A>T (p.Asn646Tyr)
c.2041A>T (p.Asn681Tyr)
c.1948A>T (p.Asn650Tyr)
c.2047A>T (p.Asn683Tyr)
c.2077A>T (p.Asn693Tyr)
c.2068A>T (p.Asn690Tyr)
c.2038A>T (p.Asn680Tyr)
c.1981A>T (p.Asn661Tyr)
c.1927A>T (p.Asn643Tyr)
c.1720A>T (p.Asn574Tyr)
c.2134A>T (p.Asn712Tyr)
c.2128A>T (p.Asn710Tyr)
c.2125A>T (p.Asn709Tyr)
c.2185A>T (p.Asn729Tyr)
c.2176A>T (p.Asn726Tyr)
c.2095A>T (p.Asn699Tyr)
c.2044A>T (p.Asn682Tyr)
14g.33800334A>CCA389413582NPAS3c.2027A>C (p.Asn676Thr)
c.2036A>C (p.Asn679Thr)
c.1927A>C
c.793+2753A>C
c.1931A>C (p.Asn644Thr)
c.1988A>C (p.Asn663Thr)
c.1937A>C (p.Asn646Thr)
c.2042A>C (p.Asn681Thr)
c.1949A>C (p.Asn650Thr)
c.2048A>C (p.Asn683Thr)
c.2078A>C (p.Asn693Thr)
c.2069A>C (p.Asn690Thr)
c.2039A>C (p.Asn680Thr)
c.1982A>C (p.Asn661Thr)
c.1928A>C (p.Asn643Thr)
c.1721A>C (p.Asn574Thr)
c.2135A>C (p.Asn712Thr)
c.2129A>C (p.Asn710Thr)
c.2126A>C (p.Asn709Thr)
c.2186A>C (p.Asn729Thr)
c.2177A>C (p.Asn726Thr)
c.2096A>C (p.Asn699Thr)
c.2045A>C (p.Asn682Thr)
14g.33800334A>GCA389413579NPAS3c.2027A>G (p.Asn676Ser)
c.2036A>G (p.Asn679Ser)
c.1927A>G
c.793+2753A>G
c.1931A>G (p.Asn644Ser)
c.1988A>G (p.Asn663Ser)
c.1937A>G (p.Asn646Ser)
c.2042A>G (p.Asn681Ser)
c.1949A>G (p.Asn650Ser)
c.2048A>G (p.Asn683Ser)
c.2078A>G (p.Asn693Ser)
c.2069A>G (p.Asn690Ser)
c.2039A>G (p.Asn680Ser)
c.1982A>G (p.Asn661Ser)
c.1928A>G (p.Asn643Ser)
c.1721A>G (p.Asn574Ser)
c.2135A>G (p.Asn712Ser)
c.2129A>G (p.Asn710Ser)
c.2126A>G (p.Asn709Ser)
c.2186A>G (p.Asn729Ser)
c.2177A>G (p.Asn726Ser)
c.2096A>G (p.Asn699Ser)
c.2045A>G (p.Asn682Ser)
14g.33800334A>TCA389413581NPAS3c.2027A>T (p.Asn676Ile)
c.2036A>T (p.Asn679Ile)
c.1927A>T
c.793+2753A>T
c.1931A>T (p.Asn644Ile)
c.1988A>T (p.Asn663Ile)
c.1937A>T (p.Asn646Ile)
c.2042A>T (p.Asn681Ile)
c.1949A>T (p.Asn650Ile)
c.2048A>T (p.Asn683Ile)
c.2078A>T (p.Asn693Ile)
c.2069A>T (p.Asn690Ile)
c.2039A>T (p.Asn680Ile)
c.1982A>T (p.Asn661Ile)
c.1928A>T (p.Asn643Ile)
c.1721A>T (p.Asn574Ile)
c.2135A>T (p.Asn712Ile)
c.2129A>T (p.Asn710Ile)
c.2126A>T (p.Asn709Ile)
c.2186A>T (p.Asn729Ile)
c.2177A>T (p.Asn726Ile)
c.2096A>T (p.Asn699Ile)
c.2045A>T (p.Asn682Ile)
14g.33800335C>ACA389413585NPAS3c.2028C>A (p.Asn676Lys)
c.2037C>A (p.Asn679Lys)
c.1928C>A
c.793+2754C>A
c.1932C>A (p.Asn644Lys)
c.1989C>A (p.Asn663Lys)
c.1938C>A (p.Asn646Lys)
c.2043C>A (p.Asn681Lys)
c.1950C>A (p.Asn650Lys)
c.2049C>A (p.Asn683Lys)
c.2079C>A (p.Asn693Lys)
c.2070C>A (p.Asn690Lys)
c.2040C>A (p.Asn680Lys)
c.1983C>A (p.Asn661Lys)
c.1929C>A (p.Asn643Lys)
c.1722C>A (p.Asn574Lys)
c.2136C>A (p.Asn712Lys)
c.2130C>A (p.Asn710Lys)
c.2127C>A (p.Asn709Lys)
c.2187C>A (p.Asn729Lys)
c.2178C>A (p.Asn726Lys)
c.2097C>A (p.Asn699Lys)
c.2046C>A (p.Asn682Lys)
14g.33800335C=CA2128327272NPAS3c.2028C= (p.Asn676=)
c.2037C= (p.Asn679=)
c.1928C=
c.793+2754C=
c.1932C= (p.Asn644=)
c.1989C= (p.Asn663=)
c.1938C= (p.Asn646=)
c.2043C= (p.Asn681=)
c.1950C= (p.Asn650=)
c.2049C= (p.Asn683=)
c.2079C= (p.Asn693=)
c.2070C= (p.Asn690=)
c.2040C= (p.Asn680=)
c.1983C= (p.Asn661=)
c.1929C= (p.Asn643=)
c.1722C= (p.Asn574=)
c.2136C= (p.Asn712=)
c.2130C= (p.Asn710=)
c.2127C= (p.Asn709=)
c.2187C= (p.Asn729=)
c.2178C= (p.Asn726=)
c.2097C= (p.Asn699=)
c.2046C= (p.Asn682=)
14g.33800335C>GCA389413587NPAS3c.2028C>G (p.Asn676Lys)
c.2037C>G (p.Asn679Lys)
c.1928C>G
c.793+2754C>G
c.1932C>G (p.Asn644Lys)
c.1989C>G (p.Asn663Lys)
c.1938C>G (p.Asn646Lys)
c.2043C>G (p.Asn681Lys)
c.1950C>G (p.Asn650Lys)
c.2049C>G (p.Asn683Lys)
c.2079C>G (p.Asn693Lys)
c.2070C>G (p.Asn690Lys)
c.2040C>G (p.Asn680Lys)
c.1983C>G (p.Asn661Lys)
c.1929C>G (p.Asn643Lys)
c.1722C>G (p.Asn574Lys)
c.2136C>G (p.Asn712Lys)
c.2130C>G (p.Asn710Lys)
c.2127C>G (p.Asn709Lys)
c.2187C>G (p.Asn729Lys)
c.2178C>G (p.Asn726Lys)
c.2097C>G (p.Asn699Lys)
c.2046C>G (p.Asn682Lys)
14g.33800335C>TCA7150924NPAS3c.2028C>T (p.Asn676=)
c.2037C>T (p.Asn679=)
c.1928C>T
c.793+2754C>T
c.1932C>T (p.Asn644=)
c.1989C>T (p.Asn663=)
c.1938C>T (p.Asn646=)
c.2043C>T (p.Asn681=)
c.1950C>T (p.Asn650=)
c.2049C>T (p.Asn683=)
c.2079C>T (p.Asn693=)
c.2070C>T (p.Asn690=)
c.2040C>T (p.Asn680=)
c.1983C>T (p.Asn661=)
c.1929C>T (p.Asn643=)
c.1722C>T (p.Asn574=)
c.2136C>T (p.Asn712=)
c.2130C>T (p.Asn710=)
c.2127C>T (p.Asn709=)
c.2187C>T (p.Asn729=)
c.2178C>T (p.Asn726=)
c.2097C>T (p.Asn699=)
c.2046C>T (p.Asn682=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800336G>ACA389413589NPAS3c.2029G>A (p.Glu677Lys)
c.2038G>A (p.Glu680Lys)
c.1929G>A
c.793+2755G>A
c.1933G>A (p.Glu645Lys)
c.1990G>A (p.Glu664Lys)
c.1939G>A (p.Glu647Lys)
c.2044G>A (p.Glu682Lys)
c.1951G>A (p.Glu651Lys)
c.2050G>A (p.Glu684Lys)
c.2080G>A (p.Glu694Lys)
c.2071G>A (p.Glu691Lys)
c.2041G>A (p.Glu681Lys)
c.1984G>A (p.Glu662Lys)
c.1930G>A (p.Glu644Lys)
c.1723G>A (p.Glu575Lys)
c.2137G>A (p.Glu713Lys)
c.2131G>A (p.Glu711Lys)
c.2128G>A (p.Glu710Lys)
c.2188G>A (p.Glu730Lys)
c.2179G>A (p.Glu727Lys)
c.2098G>A (p.Glu700Lys)
c.2047G>A (p.Glu683Lys)
 gnomAD v4
14g.33800336G>CCA389413591NPAS3c.2029G>C (p.Glu677Gln)
c.2038G>C (p.Glu680Gln)
c.1929G>C
c.793+2755G>C
c.1933G>C (p.Glu645Gln)
c.1990G>C (p.Glu664Gln)
c.1939G>C (p.Glu647Gln)
c.2044G>C (p.Glu682Gln)
c.1951G>C (p.Glu651Gln)
c.2050G>C (p.Glu684Gln)
c.2080G>C (p.Glu694Gln)
c.2071G>C (p.Glu691Gln)
c.2041G>C (p.Glu681Gln)
c.1984G>C (p.Glu662Gln)
c.1930G>C (p.Glu644Gln)
c.1723G>C (p.Glu575Gln)
c.2137G>C (p.Glu713Gln)
c.2131G>C (p.Glu711Gln)
c.2128G>C (p.Glu710Gln)
c.2188G>C (p.Glu730Gln)
c.2179G>C (p.Glu727Gln)
c.2098G>C (p.Glu700Gln)
c.2047G>C (p.Glu683Gln)
 dbSNP gnomAD v2 gnomAD v4
14g.33800336G=CA2128327275NPAS3c.2029G= (p.Glu677=)
c.2038G= (p.Glu680=)
c.1929G=
c.793+2755G=
c.1933G= (p.Glu645=)
c.1990G= (p.Glu664=)
c.1939G= (p.Glu647=)
c.2044G= (p.Glu682=)
c.1951G= (p.Glu651=)
c.2050G= (p.Glu684=)
c.2080G= (p.Glu694=)
c.2071G= (p.Glu691=)
c.2041G= (p.Glu681=)
c.1984G= (p.Glu662=)
c.1930G= (p.Glu644=)
c.1723G= (p.Glu575=)
c.2137G= (p.Glu713=)
c.2131G= (p.Glu711=)
c.2128G= (p.Glu710=)
c.2188G= (p.Glu730=)
c.2179G= (p.Glu727=)
c.2098G= (p.Glu700=)
c.2047G= (p.Glu683=)
14g.33800336G>TCA389413593NPAS3c.2029G>T (p.Glu677Ter)
c.2038G>T (p.Glu680Ter)
c.1929G>T
c.793+2755G>T
c.1933G>T (p.Glu645Ter)
c.1990G>T (p.Glu664Ter)
c.1939G>T (p.Glu647Ter)
c.2044G>T (p.Glu682Ter)
c.1951G>T (p.Glu651Ter)
c.2050G>T (p.Glu684Ter)
c.2080G>T (p.Glu694Ter)
c.2071G>T (p.Glu691Ter)
c.2041G>T (p.Glu681Ter)
c.1984G>T (p.Glu662Ter)
c.1930G>T (p.Glu644Ter)
c.1723G>T (p.Glu575Ter)
c.2137G>T (p.Glu713Ter)
c.2131G>T (p.Glu711Ter)
c.2128G>T (p.Glu710Ter)
c.2188G>T (p.Glu730Ter)
c.2179G>T (p.Glu727Ter)
c.2098G>T (p.Glu700Ter)
c.2047G>T (p.Glu683Ter)
14g.33800337A>CCA389413598NPAS3c.2030A>C (p.Glu677Ala)
c.2039A>C (p.Glu680Ala)
c.1930A>C
c.793+2756A>C
c.1934A>C (p.Glu645Ala)
c.1991A>C (p.Glu664Ala)
c.1940A>C (p.Glu647Ala)
c.2045A>C (p.Glu682Ala)
c.1952A>C (p.Glu651Ala)
c.2051A>C (p.Glu684Ala)
c.2081A>C (p.Glu694Ala)
c.2072A>C (p.Glu691Ala)
c.2042A>C (p.Glu681Ala)
c.1985A>C (p.Glu662Ala)
c.1931A>C (p.Glu644Ala)
c.1724A>C (p.Glu575Ala)
c.2138A>C (p.Glu713Ala)
c.2132A>C (p.Glu711Ala)
c.2129A>C (p.Glu710Ala)
c.2189A>C (p.Glu730Ala)
c.2180A>C (p.Glu727Ala)
c.2099A>C (p.Glu700Ala)
c.2048A>C (p.Glu683Ala)
14g.33800337A>GCA389413599NPAS3c.2030A>G (p.Glu677Gly)
c.2039A>G (p.Glu680Gly)
c.1930A>G
c.793+2756A>G
c.1934A>G (p.Glu645Gly)
c.1991A>G (p.Glu664Gly)
c.1940A>G (p.Glu647Gly)
c.2045A>G (p.Glu682Gly)
c.1952A>G (p.Glu651Gly)
c.2051A>G (p.Glu684Gly)
c.2081A>G (p.Glu694Gly)
c.2072A>G (p.Glu691Gly)
c.2042A>G (p.Glu681Gly)
c.1985A>G (p.Glu662Gly)
c.1931A>G (p.Glu644Gly)
c.1724A>G (p.Glu575Gly)
c.2138A>G (p.Glu713Gly)
c.2132A>G (p.Glu711Gly)
c.2129A>G (p.Glu710Gly)
c.2189A>G (p.Glu730Gly)
c.2180A>G (p.Glu727Gly)
c.2099A>G (p.Glu700Gly)
c.2048A>G (p.Glu683Gly)
14g.33800337A>TCA389413596NPAS3c.2030A>T (p.Glu677Val)
c.2039A>T (p.Glu680Val)
c.1930A>T
c.793+2756A>T
c.1934A>T (p.Glu645Val)
c.1991A>T (p.Glu664Val)
c.1940A>T (p.Glu647Val)
c.2045A>T (p.Glu682Val)
c.1952A>T (p.Glu651Val)
c.2051A>T (p.Glu684Val)
c.2081A>T (p.Glu694Val)
c.2072A>T (p.Glu691Val)
c.2042A>T (p.Glu681Val)
c.1985A>T (p.Glu662Val)
c.1931A>T (p.Glu644Val)
c.1724A>T (p.Glu575Val)
c.2138A>T (p.Glu713Val)
c.2132A>T (p.Glu711Val)
c.2129A>T (p.Glu710Val)
c.2189A>T (p.Glu730Val)
c.2180A>T (p.Glu727Val)
c.2099A>T (p.Glu700Val)
c.2048A>T (p.Glu683Val)
 gnomAD v4
14g.33800338G>ACA486093028NPAS3c.2031G>A (p.Glu677=)
c.2040G>A (p.Glu680=)
c.1931G>A
c.793+2757G>A
c.1935G>A (p.Glu645=)
c.1992G>A (p.Glu664=)
c.1941G>A (p.Glu647=)
c.2046G>A (p.Glu682=)
c.1953G>A (p.Glu651=)
c.2052G>A (p.Glu684=)
c.2082G>A (p.Glu694=)
c.2073G>A (p.Glu691=)
c.2043G>A (p.Glu681=)
c.1986G>A (p.Glu662=)
c.1932G>A (p.Glu644=)
c.1725G>A (p.Glu575=)
c.2139G>A (p.Glu713=)
c.2133G>A (p.Glu711=)
c.2130G>A (p.Glu710=)
c.2190G>A (p.Glu730=)
c.2181G>A (p.Glu727=)
c.2100G>A (p.Glu700=)
c.2049G>A (p.Glu683=)
 dbSNP gnomAD v2 gnomAD v4
14g.33800338G>CCA389413603NPAS3c.2031G>C (p.Glu677Asp)
c.2040G>C (p.Glu680Asp)
c.1931G>C
c.793+2757G>C
c.1935G>C (p.Glu645Asp)
c.1992G>C (p.Glu664Asp)
c.1941G>C (p.Glu647Asp)
c.2046G>C (p.Glu682Asp)
c.1953G>C (p.Glu651Asp)
c.2052G>C (p.Glu684Asp)
c.2082G>C (p.Glu694Asp)
c.2073G>C (p.Glu691Asp)
c.2043G>C (p.Glu681Asp)
c.1986G>C (p.Glu662Asp)
c.1932G>C (p.Glu644Asp)
c.1725G>C (p.Glu575Asp)
c.2139G>C (p.Glu713Asp)
c.2133G>C (p.Glu711Asp)
c.2130G>C (p.Glu710Asp)
c.2190G>C (p.Glu730Asp)
c.2181G>C (p.Glu727Asp)
c.2100G>C (p.Glu700Asp)
c.2049G>C (p.Glu683Asp)
14g.33800338G=CA2128327278NPAS3c.2031G= (p.Glu677=)
c.2040G= (p.Glu680=)
c.1931G=
c.793+2757G=
c.1935G= (p.Glu645=)
c.1992G= (p.Glu664=)
c.1941G= (p.Glu647=)
c.2046G= (p.Glu682=)
c.1953G= (p.Glu651=)
c.2052G= (p.Glu684=)
c.2082G= (p.Glu694=)
c.2073G= (p.Glu691=)
c.2043G= (p.Glu681=)
c.1986G= (p.Glu662=)
c.1932G= (p.Glu644=)
c.1725G= (p.Glu575=)
c.2139G= (p.Glu713=)
c.2133G= (p.Glu711=)
c.2130G= (p.Glu710=)
c.2190G= (p.Glu730=)
c.2181G= (p.Glu727=)
c.2100G= (p.Glu700=)
c.2049G= (p.Glu683=)
14g.33800338G>TCA389413602NPAS3c.2031G>T (p.Glu677Asp)
c.2040G>T (p.Glu680Asp)
c.1931G>T
c.793+2757G>T
c.1935G>T (p.Glu645Asp)
c.1992G>T (p.Glu664Asp)
c.1941G>T (p.Glu647Asp)
c.2046G>T (p.Glu682Asp)
c.1953G>T (p.Glu651Asp)
c.2052G>T (p.Glu684Asp)
c.2082G>T (p.Glu694Asp)
c.2073G>T (p.Glu691Asp)
c.2043G>T (p.Glu681Asp)
c.1986G>T (p.Glu662Asp)
c.1932G>T (p.Glu644Asp)
c.1725G>T (p.Glu575Asp)
c.2139G>T (p.Glu713Asp)
c.2133G>T (p.Glu711Asp)
c.2130G>T (p.Glu710Asp)
c.2190G>T (p.Glu730Asp)
c.2181G>T (p.Glu727Asp)
c.2100G>T (p.Glu700Asp)
c.2049G>T (p.Glu683Asp)
14g.33800339T>ACA389413608NPAS3c.2032T>A (p.Ser678Thr)
c.2041T>A (p.Ser681Thr)
c.1932T>A
c.793+2758T>A
c.1936T>A (p.Ser646Thr)
c.1993T>A (p.Ser665Thr)
c.1942T>A (p.Ser648Thr)
c.2047T>A (p.Ser683Thr)
c.1954T>A (p.Ser652Thr)
c.2053T>A (p.Ser685Thr)
c.2083T>A (p.Ser695Thr)
c.2074T>A (p.Ser692Thr)
c.2044T>A (p.Ser682Thr)
c.1987T>A (p.Ser663Thr)
c.1933T>A (p.Ser645Thr)
c.1726T>A (p.Ser576Thr)
c.2140T>A (p.Ser714Thr)
c.2134T>A (p.Ser712Thr)
c.2131T>A (p.Ser711Thr)
c.2191T>A (p.Ser731Thr)
c.2182T>A (p.Ser728Thr)
c.2101T>A (p.Ser701Thr)
c.2050T>A (p.Ser684Thr)
14g.33800339T>CCA389413605NPAS3c.2032T>C (p.Ser678Pro)
c.2041T>C (p.Ser681Pro)
c.1932T>C
c.793+2758T>C
c.1936T>C (p.Ser646Pro)
c.1993T>C (p.Ser665Pro)
c.1942T>C (p.Ser648Pro)
c.2047T>C (p.Ser683Pro)
c.1954T>C (p.Ser652Pro)
c.2053T>C (p.Ser685Pro)
c.2083T>C (p.Ser695Pro)
c.2074T>C (p.Ser692Pro)
c.2044T>C (p.Ser682Pro)
c.1987T>C (p.Ser663Pro)
c.1933T>C (p.Ser645Pro)
c.1726T>C (p.Ser576Pro)
c.2140T>C (p.Ser714Pro)
c.2134T>C (p.Ser712Pro)
c.2131T>C (p.Ser711Pro)
c.2191T>C (p.Ser731Pro)
c.2182T>C (p.Ser728Pro)
c.2101T>C (p.Ser701Pro)
c.2050T>C (p.Ser684Pro)
14g.33800339T>GCA389413607NPAS3c.2032T>G (p.Ser678Ala)
c.2041T>G (p.Ser681Ala)
c.1932T>G
c.793+2758T>G
c.1936T>G (p.Ser646Ala)
c.1993T>G (p.Ser665Ala)
c.1942T>G (p.Ser648Ala)
c.2047T>G (p.Ser683Ala)
c.1954T>G (p.Ser652Ala)
c.2053T>G (p.Ser685Ala)
c.2083T>G (p.Ser695Ala)
c.2074T>G (p.Ser692Ala)
c.2044T>G (p.Ser682Ala)
c.1987T>G (p.Ser663Ala)
c.1933T>G (p.Ser645Ala)
c.1726T>G (p.Ser576Ala)
c.2140T>G (p.Ser714Ala)
c.2134T>G (p.Ser712Ala)
c.2131T>G (p.Ser711Ala)
c.2191T>G (p.Ser731Ala)
c.2182T>G (p.Ser728Ala)
c.2101T>G (p.Ser701Ala)
c.2050T>G (p.Ser684Ala)
14g.33800340C>ACA389413611NPAS3c.2033C>A (p.Ser678Tyr)
c.2042C>A (p.Ser681Tyr)
c.1933C>A
c.793+2759C>A
c.1937C>A (p.Ser646Tyr)
c.1994C>A (p.Ser665Tyr)
c.1943C>A (p.Ser648Tyr)
c.2048C>A (p.Ser683Tyr)
c.1955C>A (p.Ser652Tyr)
c.2054C>A (p.Ser685Tyr)
c.2084C>A (p.Ser695Tyr)
c.2075C>A (p.Ser692Tyr)
c.2045C>A (p.Ser682Tyr)
c.1988C>A (p.Ser663Tyr)
c.1934C>A (p.Ser645Tyr)
c.1727C>A (p.Ser576Tyr)
c.2141C>A (p.Ser714Tyr)
c.2135C>A (p.Ser712Tyr)
c.2132C>A (p.Ser711Tyr)
c.2192C>A (p.Ser731Tyr)
c.2183C>A (p.Ser728Tyr)
c.2102C>A (p.Ser701Tyr)
c.2051C>A (p.Ser684Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800340C=CA2128327281NPAS3c.2033C= (p.Ser678=)
c.2042C= (p.Ser681=)
c.1933C=
c.793+2759C=
c.1937C= (p.Ser646=)
c.1994C= (p.Ser665=)
c.1943C= (p.Ser648=)
c.2048C= (p.Ser683=)
c.1955C= (p.Ser652=)
c.2054C= (p.Ser685=)
c.2084C= (p.Ser695=)
c.2075C= (p.Ser692=)
c.2045C= (p.Ser682=)
c.1988C= (p.Ser663=)
c.1934C= (p.Ser645=)
c.1727C= (p.Ser576=)
c.2141C= (p.Ser714=)
c.2135C= (p.Ser712=)
c.2132C= (p.Ser711=)
c.2192C= (p.Ser731=)
c.2183C= (p.Ser728=)
c.2102C= (p.Ser701=)
c.2051C= (p.Ser684=)
14g.33800340C>GCA389413613NPAS3c.2033C>G (p.Ser678Cys)
c.2042C>G (p.Ser681Cys)
c.1933C>G
c.793+2759C>G
c.1937C>G (p.Ser646Cys)
c.1994C>G (p.Ser665Cys)
c.1943C>G (p.Ser648Cys)
c.2048C>G (p.Ser683Cys)
c.1955C>G (p.Ser652Cys)
c.2054C>G (p.Ser685Cys)
c.2084C>G (p.Ser695Cys)
c.2075C>G (p.Ser692Cys)
c.2045C>G (p.Ser682Cys)
c.1988C>G (p.Ser663Cys)
c.1934C>G (p.Ser645Cys)
c.1727C>G (p.Ser576Cys)
c.2141C>G (p.Ser714Cys)
c.2135C>G (p.Ser712Cys)
c.2132C>G (p.Ser711Cys)
c.2192C>G (p.Ser731Cys)
c.2183C>G (p.Ser728Cys)
c.2102C>G (p.Ser701Cys)
c.2051C>G (p.Ser684Cys)
14g.33800340C>TCA7150925NPAS3c.2033C>T (p.Ser678Phe)
c.2042C>T (p.Ser681Phe)
c.1933C>T
c.793+2759C>T
c.1937C>T (p.Ser646Phe)
c.1994C>T (p.Ser665Phe)
c.1943C>T (p.Ser648Phe)
c.2048C>T (p.Ser683Phe)
c.1955C>T (p.Ser652Phe)
c.2054C>T (p.Ser685Phe)
c.2084C>T (p.Ser695Phe)
c.2075C>T (p.Ser692Phe)
c.2045C>T (p.Ser682Phe)
c.1988C>T (p.Ser663Phe)
c.1934C>T (p.Ser645Phe)
c.1727C>T (p.Ser576Phe)
c.2141C>T (p.Ser714Phe)
c.2135C>T (p.Ser712Phe)
c.2132C>T (p.Ser711Phe)
c.2192C>T (p.Ser731Phe)
c.2183C>T (p.Ser728Phe)
c.2102C>T (p.Ser701Phe)
c.2051C>T (p.Ser684Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800341C>ACA486093031NPAS3c.2034C>A (p.Ser678=)
c.2043C>A (p.Ser681=)
c.1934C>A
c.793+2760C>A
c.1938C>A (p.Ser646=)
c.1995C>A (p.Ser665=)
c.1944C>A (p.Ser648=)
c.2049C>A (p.Ser683=)
c.1956C>A (p.Ser652=)
c.2055C>A (p.Ser685=)
c.2085C>A (p.Ser695=)
c.2076C>A (p.Ser692=)
c.2046C>A (p.Ser682=)
c.1989C>A (p.Ser663=)
c.1935C>A (p.Ser645=)
c.1728C>A (p.Ser576=)
c.2142C>A (p.Ser714=)
c.2136C>A (p.Ser712=)
c.2133C>A (p.Ser711=)
c.2193C>A (p.Ser731=)
c.2184C>A (p.Ser728=)
c.2103C>A (p.Ser701=)
c.2052C>A (p.Ser684=)
 gnomAD v4
14g.33800341C>GCA486093029NPAS3c.2034C>G (p.Ser678=)
c.2043C>G (p.Ser681=)
c.1934C>G
c.793+2760C>G
c.1938C>G (p.Ser646=)
c.1995C>G (p.Ser665=)
c.1944C>G (p.Ser648=)
c.2049C>G (p.Ser683=)
c.1956C>G (p.Ser652=)
c.2055C>G (p.Ser685=)
c.2085C>G (p.Ser695=)
c.2076C>G (p.Ser692=)
c.2046C>G (p.Ser682=)
c.1989C>G (p.Ser663=)
c.1935C>G (p.Ser645=)
c.1728C>G (p.Ser576=)
c.2142C>G (p.Ser714=)
c.2136C>G (p.Ser712=)
c.2133C>G (p.Ser711=)
c.2193C>G (p.Ser731=)
c.2184C>G (p.Ser728=)
c.2103C>G (p.Ser701=)
c.2052C>G (p.Ser684=)
14g.33800341C>TCA486093030NPAS3c.2034C>T (p.Ser678=)
c.2043C>T (p.Ser681=)
c.1934C>T
c.793+2760C>T
c.1938C>T (p.Ser646=)
c.1995C>T (p.Ser665=)
c.1944C>T (p.Ser648=)
c.2049C>T (p.Ser683=)
c.1956C>T (p.Ser652=)
c.2055C>T (p.Ser685=)
c.2085C>T (p.Ser695=)
c.2076C>T (p.Ser692=)
c.2046C>T (p.Ser682=)
c.1989C>T (p.Ser663=)
c.1935C>T (p.Ser645=)
c.1728C>T (p.Ser576=)
c.2142C>T (p.Ser714=)
c.2136C>T (p.Ser712=)
c.2133C>T (p.Ser711=)
c.2193C>T (p.Ser731=)
c.2184C>T (p.Ser728=)
c.2103C>T (p.Ser701=)
c.2052C>T (p.Ser684=)
 gnomAD v4
14g.33800342C>ACA389413616NPAS3c.2035C>A (p.Pro679Thr)
c.2044C>A (p.Pro682Thr)
c.1935C>A
c.793+2761C>A
c.1939C>A (p.Pro647Thr)
c.1996C>A (p.Pro666Thr)
c.1945C>A (p.Pro649Thr)
c.2050C>A (p.Pro684Thr)
c.1957C>A (p.Pro653Thr)
c.2056C>A (p.Pro686Thr)
c.2086C>A (p.Pro696Thr)
c.2077C>A (p.Pro693Thr)
c.2047C>A (p.Pro683Thr)
c.1990C>A (p.Pro664Thr)
c.1936C>A (p.Pro646Thr)
c.1729C>A (p.Pro577Thr)
c.2143C>A (p.Pro715Thr)
c.2137C>A (p.Pro713Thr)
c.2134C>A (p.Pro712Thr)
c.2194C>A (p.Pro732Thr)
c.2185C>A (p.Pro729Thr)
c.2104C>A (p.Pro702Thr)
c.2053C>A (p.Pro685Thr)
14g.33800342C>GCA389413617NPAS3c.2035C>G (p.Pro679Ala)
c.2044C>G (p.Pro682Ala)
c.1935C>G
c.793+2761C>G
c.1939C>G (p.Pro647Ala)
c.1996C>G (p.Pro666Ala)
c.1945C>G (p.Pro649Ala)
c.2050C>G (p.Pro684Ala)
c.1957C>G (p.Pro653Ala)
c.2056C>G (p.Pro686Ala)
c.2086C>G (p.Pro696Ala)
c.2077C>G (p.Pro693Ala)
c.2047C>G (p.Pro683Ala)
c.1990C>G (p.Pro664Ala)
c.1936C>G (p.Pro646Ala)
c.1729C>G (p.Pro577Ala)
c.2143C>G (p.Pro715Ala)
c.2137C>G (p.Pro713Ala)
c.2134C>G (p.Pro712Ala)
c.2194C>G (p.Pro732Ala)
c.2185C>G (p.Pro729Ala)
c.2104C>G (p.Pro702Ala)
c.2053C>G (p.Pro685Ala)
14g.33800342C>TCA389413619NPAS3c.2035C>T (p.Pro679Ser)
c.2044C>T (p.Pro682Ser)
c.1935C>T
c.793+2761C>T
c.1939C>T (p.Pro647Ser)
c.1996C>T (p.Pro666Ser)
c.1945C>T (p.Pro649Ser)
c.2050C>T (p.Pro684Ser)
c.1957C>T (p.Pro653Ser)
c.2056C>T (p.Pro686Ser)
c.2086C>T (p.Pro696Ser)
c.2077C>T (p.Pro693Ser)
c.2047C>T (p.Pro683Ser)
c.1990C>T (p.Pro664Ser)
c.1936C>T (p.Pro646Ser)
c.1729C>T (p.Pro577Ser)
c.2143C>T (p.Pro715Ser)
c.2137C>T (p.Pro713Ser)
c.2134C>T (p.Pro712Ser)
c.2194C>T (p.Pro732Ser)
c.2185C>T (p.Pro729Ser)
c.2104C>T (p.Pro702Ser)
c.2053C>T (p.Pro685Ser)
14g.33800343C>ACA389413621NPAS3c.2036C>A (p.Pro679His)
c.2045C>A (p.Pro682His)
c.1936C>A
c.793+2762C>A
c.1940C>A (p.Pro647His)
c.1997C>A (p.Pro666His)
c.1946C>A (p.Pro649His)
c.2051C>A (p.Pro684His)
c.1958C>A (p.Pro653His)
c.2057C>A (p.Pro686His)
c.2087C>A (p.Pro696His)
c.2078C>A (p.Pro693His)
c.2048C>A (p.Pro683His)
c.1991C>A (p.Pro664His)
c.1937C>A (p.Pro646His)
c.1730C>A (p.Pro577His)
c.2144C>A (p.Pro715His)
c.2138C>A (p.Pro713His)
c.2135C>A (p.Pro712His)
c.2195C>A (p.Pro732His)
c.2186C>A (p.Pro729His)
c.2105C>A (p.Pro702His)
c.2054C>A (p.Pro685His)
14g.33800343C>GCA389413623NPAS3c.2036C>G (p.Pro679Arg)
c.2045C>G (p.Pro682Arg)
c.1936C>G
c.793+2762C>G
c.1940C>G (p.Pro647Arg)
c.1997C>G (p.Pro666Arg)
c.1946C>G (p.Pro649Arg)
c.2051C>G (p.Pro684Arg)
c.1958C>G (p.Pro653Arg)
c.2057C>G (p.Pro686Arg)
c.2087C>G (p.Pro696Arg)
c.2078C>G (p.Pro693Arg)
c.2048C>G (p.Pro683Arg)
c.1991C>G (p.Pro664Arg)
c.1937C>G (p.Pro646Arg)
c.1730C>G (p.Pro577Arg)
c.2144C>G (p.Pro715Arg)
c.2138C>G (p.Pro713Arg)
c.2135C>G (p.Pro712Arg)
c.2195C>G (p.Pro732Arg)
c.2186C>G (p.Pro729Arg)
c.2105C>G (p.Pro702Arg)
c.2054C>G (p.Pro685Arg)
 gnomAD v4
14g.33800343C>TCA389413625NPAS3c.2036C>T (p.Pro679Leu)
c.2045C>T (p.Pro682Leu)
c.1936C>T
c.793+2762C>T
c.1940C>T (p.Pro647Leu)
c.1997C>T (p.Pro666Leu)
c.1946C>T (p.Pro649Leu)
c.2051C>T (p.Pro684Leu)
c.1958C>T (p.Pro653Leu)
c.2057C>T (p.Pro686Leu)
c.2087C>T (p.Pro696Leu)
c.2078C>T (p.Pro693Leu)
c.2048C>T (p.Pro683Leu)
c.1991C>T (p.Pro664Leu)
c.1937C>T (p.Pro646Leu)
c.1730C>T (p.Pro577Leu)
c.2144C>T (p.Pro715Leu)
c.2138C>T (p.Pro713Leu)
c.2135C>T (p.Pro712Leu)
c.2195C>T (p.Pro732Leu)
c.2186C>T (p.Pro729Leu)
c.2105C>T (p.Pro702Leu)
c.2054C>T (p.Pro685Leu)
 gnomAD v4
14g.33800344C>ACA7150926NPAS3c.2037C>A (p.Pro679=)
c.2046C>A (p.Pro682=)
c.1937C>A
c.793+2763C>A
c.1941C>A (p.Pro647=)
c.1998C>A (p.Pro666=)
c.1947C>A (p.Pro649=)
c.2052C>A (p.Pro684=)
c.1959C>A (p.Pro653=)
c.2058C>A (p.Pro686=)
c.2088C>A (p.Pro696=)
c.2079C>A (p.Pro693=)
c.2049C>A (p.Pro683=)
c.1992C>A (p.Pro664=)
c.1938C>A (p.Pro646=)
c.1731C>A (p.Pro577=)
c.2145C>A (p.Pro715=)
c.2139C>A (p.Pro713=)
c.2136C>A (p.Pro712=)
c.2196C>A (p.Pro732=)
c.2187C>A (p.Pro729=)
c.2106C>A (p.Pro702=)
c.2055C>A (p.Pro685=)
 dbSNP ExAC gnomAD v2
14g.33800344C=CA2128327286NPAS3c.2037C= (p.Pro679=)
c.2046C= (p.Pro682=)
c.1937C=
c.793+2763C=
c.1941C= (p.Pro647=)
c.1998C= (p.Pro666=)
c.1947C= (p.Pro649=)
c.2052C= (p.Pro684=)
c.1959C= (p.Pro653=)
c.2058C= (p.Pro686=)
c.2088C= (p.Pro696=)
c.2079C= (p.Pro693=)
c.2049C= (p.Pro683=)
c.1992C= (p.Pro664=)
c.1938C= (p.Pro646=)
c.1731C= (p.Pro577=)
c.2145C= (p.Pro715=)
c.2139C= (p.Pro713=)
c.2136C= (p.Pro712=)
c.2196C= (p.Pro732=)
c.2187C= (p.Pro729=)
c.2106C= (p.Pro702=)
c.2055C= (p.Pro685=)
14g.33800344C>GCA486093032NPAS3c.2037C>G (p.Pro679=)
c.2046C>G (p.Pro682=)
c.1937C>G
c.793+2763C>G
c.1941C>G (p.Pro647=)
c.1998C>G (p.Pro666=)
c.1947C>G (p.Pro649=)
c.2052C>G (p.Pro684=)
c.1959C>G (p.Pro653=)
c.2058C>G (p.Pro686=)
c.2088C>G (p.Pro696=)
c.2079C>G (p.Pro693=)
c.2049C>G (p.Pro683=)
c.1992C>G (p.Pro664=)
c.1938C>G (p.Pro646=)
c.1731C>G (p.Pro577=)
c.2145C>G (p.Pro715=)
c.2139C>G (p.Pro713=)
c.2136C>G (p.Pro712=)
c.2196C>G (p.Pro732=)
c.2187C>G (p.Pro729=)
c.2106C>G (p.Pro702=)
c.2055C>G (p.Pro685=)
 dbSNP gnomAD v3 gnomAD v4
14g.33800344C>TCA486093033NPAS3c.2037C>T (p.Pro679=)
c.2046C>T (p.Pro682=)
c.1937C>T
c.793+2763C>T
c.1941C>T (p.Pro647=)
c.1998C>T (p.Pro666=)
c.1947C>T (p.Pro649=)
c.2052C>T (p.Pro684=)
c.1959C>T (p.Pro653=)
c.2058C>T (p.Pro686=)
c.2088C>T (p.Pro696=)
c.2079C>T (p.Pro693=)
c.2049C>T (p.Pro683=)
c.1992C>T (p.Pro664=)
c.1938C>T (p.Pro646=)
c.1731C>T (p.Pro577=)
c.2145C>T (p.Pro715=)
c.2139C>T (p.Pro713=)
c.2136C>T (p.Pro712=)
c.2196C>T (p.Pro732=)
c.2187C>T (p.Pro729=)
c.2106C>T (p.Pro702=)
c.2055C>T (p.Pro685=)
 gnomAD v4
14g.33800345T>ACA389413632NPAS3c.2038T>A (p.Tyr680Asn)
c.2047T>A (p.Tyr683Asn)
c.1938T>A
c.793+2764T>A
c.1942T>A (p.Tyr648Asn)
c.1999T>A (p.Tyr667Asn)
c.1948T>A (p.Tyr650Asn)
c.2053T>A (p.Tyr685Asn)
c.1960T>A (p.Tyr654Asn)
c.2059T>A (p.Tyr687Asn)
c.2089T>A (p.Tyr697Asn)
c.2080T>A (p.Tyr694Asn)
c.2050T>A (p.Tyr684Asn)
c.1993T>A (p.Tyr665Asn)
c.1939T>A (p.Tyr647Asn)
c.1732T>A (p.Tyr578Asn)
c.2146T>A (p.Tyr716Asn)
c.2140T>A (p.Tyr714Asn)
c.2137T>A (p.Tyr713Asn)
c.2197T>A (p.Tyr733Asn)
c.2188T>A (p.Tyr730Asn)
c.2107T>A (p.Tyr703Asn)
c.2056T>A (p.Tyr686Asn)
14g.33800345T>CCA258719052NPAS3c.2038T>C (p.Tyr680His)
c.2047T>C (p.Tyr683His)
c.1938T>C
c.793+2764T>C
c.1942T>C (p.Tyr648His)
c.1999T>C (p.Tyr667His)
c.1948T>C (p.Tyr650His)
c.2053T>C (p.Tyr685His)
c.1960T>C (p.Tyr654His)
c.2059T>C (p.Tyr687His)
c.2089T>C (p.Tyr697His)
c.2080T>C (p.Tyr694His)
c.2050T>C (p.Tyr684His)
c.1993T>C (p.Tyr665His)
c.1939T>C (p.Tyr647His)
c.1732T>C (p.Tyr578His)
c.2146T>C (p.Tyr716His)
c.2140T>C (p.Tyr714His)
c.2137T>C (p.Tyr713His)
c.2197T>C (p.Tyr733His)
c.2188T>C (p.Tyr730His)
c.2107T>C (p.Tyr703His)
c.2056T>C (p.Tyr686His)
 dbSNP
14g.33800345T>GCA389413630NPAS3c.2038T>G (p.Tyr680Asp)
c.2047T>G (p.Tyr683Asp)
c.1938T>G
c.793+2764T>G
c.1942T>G (p.Tyr648Asp)
c.1999T>G (p.Tyr667Asp)
c.1948T>G (p.Tyr650Asp)
c.2053T>G (p.Tyr685Asp)
c.1960T>G (p.Tyr654Asp)
c.2059T>G (p.Tyr687Asp)
c.2089T>G (p.Tyr697Asp)
c.2080T>G (p.Tyr694Asp)
c.2050T>G (p.Tyr684Asp)
c.1993T>G (p.Tyr665Asp)
c.1939T>G (p.Tyr647Asp)
c.1732T>G (p.Tyr578Asp)
c.2146T>G (p.Tyr716Asp)
c.2140T>G (p.Tyr714Asp)
c.2137T>G (p.Tyr713Asp)
c.2197T>G (p.Tyr733Asp)
c.2188T>G (p.Tyr730Asp)
c.2107T>G (p.Tyr703Asp)
c.2056T>G (p.Tyr686Asp)
14g.33800345T=CA2128327290NPAS3c.2038T= (p.Tyr680=)
c.2047T= (p.Tyr683=)
c.1938T=
c.793+2764T=
c.1942T= (p.Tyr648=)
c.1999T= (p.Tyr667=)
c.1948T= (p.Tyr650=)
c.2053T= (p.Tyr685=)
c.1960T= (p.Tyr654=)
c.2059T= (p.Tyr687=)
c.2089T= (p.Tyr697=)
c.2080T= (p.Tyr694=)
c.2050T= (p.Tyr684=)
c.1993T= (p.Tyr665=)
c.1939T= (p.Tyr647=)
c.1732T= (p.Tyr578=)
c.2146T= (p.Tyr716=)
c.2140T= (p.Tyr714=)
c.2137T= (p.Tyr713=)
c.2197T= (p.Tyr733=)
c.2188T= (p.Tyr730=)
c.2107T= (p.Tyr703=)
c.2056T= (p.Tyr686=)
14g.33800346A=CA2128327292NPAS3c.2039A= (p.Tyr680=)
c.2048A= (p.Tyr683=)
c.1939A=
c.793+2765A=
c.1943A= (p.Tyr648=)
c.2000A= (p.Tyr667=)
c.1949A= (p.Tyr650=)
c.2054A= (p.Tyr685=)
c.1961A= (p.Tyr654=)
c.2060A= (p.Tyr687=)
c.2090A= (p.Tyr697=)
c.2081A= (p.Tyr694=)
c.2051A= (p.Tyr684=)
c.1994A= (p.Tyr665=)
c.1940A= (p.Tyr647=)
c.1733A= (p.Tyr578=)
c.2147A= (p.Tyr716=)
c.2141A= (p.Tyr714=)
c.2138A= (p.Tyr713=)
c.2198A= (p.Tyr733=)
c.2189A= (p.Tyr730=)
c.2108A= (p.Tyr703=)
c.2057A= (p.Tyr686=)
14g.33800346A>CCA389413634NPAS3c.2039A>C (p.Tyr680Ser)
c.2048A>C (p.Tyr683Ser)
c.1939A>C
c.793+2765A>C
c.1943A>C (p.Tyr648Ser)
c.2000A>C (p.Tyr667Ser)
c.1949A>C (p.Tyr650Ser)
c.2054A>C (p.Tyr685Ser)
c.1961A>C (p.Tyr654Ser)
c.2060A>C (p.Tyr687Ser)
c.2090A>C (p.Tyr697Ser)
c.2081A>C (p.Tyr694Ser)
c.2051A>C (p.Tyr684Ser)
c.1994A>C (p.Tyr665Ser)
c.1940A>C (p.Tyr647Ser)
c.1733A>C (p.Tyr578Ser)
c.2147A>C (p.Tyr716Ser)
c.2141A>C (p.Tyr714Ser)
c.2138A>C (p.Tyr713Ser)
c.2198A>C (p.Tyr733Ser)
c.2189A>C (p.Tyr730Ser)
c.2108A>C (p.Tyr703Ser)
c.2057A>C (p.Tyr686Ser)
14g.33800346A>GCA389413636NPAS3c.2039A>G (p.Tyr680Cys)
c.2048A>G (p.Tyr683Cys)
c.1939A>G
c.793+2765A>G
c.1943A>G (p.Tyr648Cys)
c.2000A>G (p.Tyr667Cys)
c.1949A>G (p.Tyr650Cys)
c.2054A>G (p.Tyr685Cys)
c.1961A>G (p.Tyr654Cys)
c.2060A>G (p.Tyr687Cys)
c.2090A>G (p.Tyr697Cys)
c.2081A>G (p.Tyr694Cys)
c.2051A>G (p.Tyr684Cys)
c.1994A>G (p.Tyr665Cys)
c.1940A>G (p.Tyr647Cys)
c.1733A>G (p.Tyr578Cys)
c.2147A>G (p.Tyr716Cys)
c.2141A>G (p.Tyr714Cys)
c.2138A>G (p.Tyr713Cys)
c.2198A>G (p.Tyr733Cys)
c.2189A>G (p.Tyr730Cys)
c.2108A>G (p.Tyr703Cys)
c.2057A>G (p.Tyr686Cys)
 dbSNP gnomAD v4
14g.33800346A>TCA389413638NPAS3c.2039A>T (p.Tyr680Phe)
c.2048A>T (p.Tyr683Phe)
c.1939A>T
c.793+2765A>T
c.1943A>T (p.Tyr648Phe)
c.2000A>T (p.Tyr667Phe)
c.1949A>T (p.Tyr650Phe)
c.2054A>T (p.Tyr685Phe)
c.1961A>T (p.Tyr654Phe)
c.2060A>T (p.Tyr687Phe)
c.2090A>T (p.Tyr697Phe)
c.2081A>T (p.Tyr694Phe)
c.2051A>T (p.Tyr684Phe)
c.1994A>T (p.Tyr665Phe)
c.1940A>T (p.Tyr647Phe)
c.1733A>T (p.Tyr578Phe)
c.2147A>T (p.Tyr716Phe)
c.2141A>T (p.Tyr714Phe)
c.2138A>T (p.Tyr713Phe)
c.2198A>T (p.Tyr733Phe)
c.2189A>T (p.Tyr730Phe)
c.2108A>T (p.Tyr703Phe)
c.2057A>T (p.Tyr686Phe)
14g.33800347C>ACA389413640NPAS3c.2040C>A (p.Tyr680Ter)
c.2049C>A (p.Tyr683Ter)
c.1940C>A
c.793+2766C>A
c.1944C>A (p.Tyr648Ter)
c.2001C>A (p.Tyr667Ter)
c.1950C>A (p.Tyr650Ter)
c.2055C>A (p.Tyr685Ter)
c.1962C>A (p.Tyr654Ter)
c.2061C>A (p.Tyr687Ter)
c.2091C>A (p.Tyr697Ter)
c.2082C>A (p.Tyr694Ter)
c.2052C>A (p.Tyr684Ter)
c.1995C>A (p.Tyr665Ter)
c.1941C>A (p.Tyr647Ter)
c.1734C>A (p.Tyr578Ter)
c.2148C>A (p.Tyr716Ter)
c.2142C>A (p.Tyr714Ter)
c.2139C>A (p.Tyr713Ter)
c.2199C>A (p.Tyr733Ter)
c.2190C>A (p.Tyr730Ter)
c.2109C>A (p.Tyr703Ter)
c.2058C>A (p.Tyr686Ter)
14g.33800347C>GCA389413642NPAS3c.2040C>G (p.Tyr680Ter)
c.2049C>G (p.Tyr683Ter)
c.1940C>G
c.793+2766C>G
c.1944C>G (p.Tyr648Ter)
c.2001C>G (p.Tyr667Ter)
c.1950C>G (p.Tyr650Ter)
c.2055C>G (p.Tyr685Ter)
c.1962C>G (p.Tyr654Ter)
c.2061C>G (p.Tyr687Ter)
c.2091C>G (p.Tyr697Ter)
c.2082C>G (p.Tyr694Ter)
c.2052C>G (p.Tyr684Ter)
c.1995C>G (p.Tyr665Ter)
c.1941C>G (p.Tyr647Ter)
c.1734C>G (p.Tyr578Ter)
c.2148C>G (p.Tyr716Ter)
c.2142C>G (p.Tyr714Ter)
c.2139C>G (p.Tyr713Ter)
c.2199C>G (p.Tyr733Ter)
c.2190C>G (p.Tyr730Ter)
c.2109C>G (p.Tyr703Ter)
c.2058C>G (p.Tyr686Ter)
 gnomAD v4
14g.33800347C>TCA486093034NPAS3c.2040C>T (p.Tyr680=)
c.2049C>T (p.Tyr683=)
c.1940C>T
c.793+2766C>T
c.1944C>T (p.Tyr648=)
c.2001C>T (p.Tyr667=)
c.1950C>T (p.Tyr650=)
c.2055C>T (p.Tyr685=)
c.1962C>T (p.Tyr654=)
c.2061C>T (p.Tyr687=)
c.2091C>T (p.Tyr697=)
c.2082C>T (p.Tyr694=)
c.2052C>T (p.Tyr684=)
c.1995C>T (p.Tyr665=)
c.1941C>T (p.Tyr647=)
c.1734C>T (p.Tyr578=)
c.2148C>T (p.Tyr716=)
c.2142C>T (p.Tyr714=)
c.2139C>T (p.Tyr713=)
c.2199C>T (p.Tyr733=)
c.2190C>T (p.Tyr730=)
c.2109C>T (p.Tyr703=)
c.2058C>T (p.Tyr686=)
14g.33800348A>CCA389413645NPAS3c.2041A>C (p.Ser681Arg)
c.2050A>C (p.Ser684Arg)
c.1941A>C
c.793+2767A>C
c.1945A>C (p.Ser649Arg)
c.2002A>C (p.Ser668Arg)
c.1951A>C (p.Ser651Arg)
c.2056A>C (p.Ser686Arg)
c.1963A>C (p.Ser655Arg)
c.2062A>C (p.Ser688Arg)
c.2092A>C (p.Ser698Arg)
c.2083A>C (p.Ser695Arg)
c.2053A>C (p.Ser685Arg)
c.1996A>C (p.Ser666Arg)
c.1942A>C (p.Ser648Arg)
c.1735A>C (p.Ser579Arg)
c.2149A>C (p.Ser717Arg)
c.2143A>C (p.Ser715Arg)
c.2140A>C (p.Ser714Arg)
c.2200A>C (p.Ser734Arg)
c.2191A>C (p.Ser731Arg)
c.2110A>C (p.Ser704Arg)
c.2059A>C (p.Ser687Arg)
 COSMIC COSMIC
14g.33800348A>GCA389413646NPAS3c.2041A>G (p.Ser681Gly)
c.2050A>G (p.Ser684Gly)
c.1941A>G
c.793+2767A>G
c.1945A>G (p.Ser649Gly)
c.2002A>G (p.Ser668Gly)
c.1951A>G (p.Ser651Gly)
c.2056A>G (p.Ser686Gly)
c.1963A>G (p.Ser655Gly)
c.2062A>G (p.Ser688Gly)
c.2092A>G (p.Ser698Gly)
c.2083A>G (p.Ser695Gly)
c.2053A>G (p.Ser685Gly)
c.1996A>G (p.Ser666Gly)
c.1942A>G (p.Ser648Gly)
c.1735A>G (p.Ser579Gly)
c.2149A>G (p.Ser717Gly)
c.2143A>G (p.Ser715Gly)
c.2140A>G (p.Ser714Gly)
c.2200A>G (p.Ser734Gly)
c.2191A>G (p.Ser731Gly)
c.2110A>G (p.Ser704Gly)
c.2059A>G (p.Ser687Gly)
14g.33800348A>TCA389413649NPAS3c.2041A>T (p.Ser681Cys)
c.2050A>T (p.Ser684Cys)
c.1941A>T
c.793+2767A>T
c.1945A>T (p.Ser649Cys)
c.2002A>T (p.Ser668Cys)
c.1951A>T (p.Ser651Cys)
c.2056A>T (p.Ser686Cys)
c.1963A>T (p.Ser655Cys)
c.2062A>T (p.Ser688Cys)
c.2092A>T (p.Ser698Cys)
c.2083A>T (p.Ser695Cys)
c.2053A>T (p.Ser685Cys)
c.1996A>T (p.Ser666Cys)
c.1942A>T (p.Ser648Cys)
c.1735A>T (p.Ser579Cys)
c.2149A>T (p.Ser717Cys)
c.2143A>T (p.Ser715Cys)
c.2140A>T (p.Ser714Cys)
c.2200A>T (p.Ser734Cys)
c.2191A>T (p.Ser731Cys)
c.2110A>T (p.Ser704Cys)
c.2059A>T (p.Ser687Cys)
14g.33800349G>ACA389413651NPAS3c.2042G>A (p.Ser681Asn)
c.2051G>A (p.Ser684Asn)
c.1942G>A
c.793+2768G>A
c.1946G>A (p.Ser649Asn)
c.2003G>A (p.Ser668Asn)
c.1952G>A (p.Ser651Asn)
c.2057G>A (p.Ser686Asn)
c.1964G>A (p.Ser655Asn)
c.2063G>A (p.Ser688Asn)
c.2093G>A (p.Ser698Asn)
c.2084G>A (p.Ser695Asn)
c.2054G>A (p.Ser685Asn)
c.1997G>A (p.Ser666Asn)
c.1943G>A (p.Ser648Asn)
c.1736G>A (p.Ser579Asn)
c.2150G>A (p.Ser717Asn)
c.2144G>A (p.Ser715Asn)
c.2141G>A (p.Ser714Asn)
c.2201G>A (p.Ser734Asn)
c.2192G>A (p.Ser731Asn)
c.2111G>A (p.Ser704Asn)
c.2060G>A (p.Ser687Asn)
14g.33800349G>CCA389413652NPAS3c.2042G>C (p.Ser681Thr)
c.2051G>C (p.Ser684Thr)
c.1942G>C
c.793+2768G>C
c.1946G>C (p.Ser649Thr)
c.2003G>C (p.Ser668Thr)
c.1952G>C (p.Ser651Thr)
c.2057G>C (p.Ser686Thr)
c.1964G>C (p.Ser655Thr)
c.2063G>C (p.Ser688Thr)
c.2093G>C (p.Ser698Thr)
c.2084G>C (p.Ser695Thr)
c.2054G>C (p.Ser685Thr)
c.1997G>C (p.Ser666Thr)
c.1943G>C (p.Ser648Thr)
c.1736G>C (p.Ser579Thr)
c.2150G>C (p.Ser717Thr)
c.2144G>C (p.Ser715Thr)
c.2141G>C (p.Ser714Thr)
c.2201G>C (p.Ser734Thr)
c.2192G>C (p.Ser731Thr)
c.2111G>C (p.Ser704Thr)
c.2060G>C (p.Ser687Thr)
14g.33800349G>TCA389413654NPAS3c.2042G>T (p.Ser681Ile)
c.2051G>T (p.Ser684Ile)
c.1942G>T
c.793+2768G>T
c.1946G>T (p.Ser649Ile)
c.2003G>T (p.Ser668Ile)
c.1952G>T (p.Ser651Ile)
c.2057G>T (p.Ser686Ile)
c.1964G>T (p.Ser655Ile)
c.2063G>T (p.Ser688Ile)
c.2093G>T (p.Ser698Ile)
c.2084G>T (p.Ser695Ile)
c.2054G>T (p.Ser685Ile)
c.1997G>T (p.Ser666Ile)
c.1943G>T (p.Ser648Ile)
c.1736G>T (p.Ser579Ile)
c.2150G>T (p.Ser717Ile)
c.2144G>T (p.Ser715Ile)
c.2141G>T (p.Ser714Ile)
c.2201G>T (p.Ser734Ile)
c.2192G>T (p.Ser731Ile)
c.2111G>T (p.Ser704Ile)
c.2060G>T (p.Ser687Ile)
14g.33800350C>ACA389413658NPAS3c.2043C>A (p.Ser681Arg)
c.2052C>A (p.Ser684Arg)
c.1943C>A
c.793+2769C>A
c.1947C>A (p.Ser649Arg)
c.2004C>A (p.Ser668Arg)
c.1953C>A (p.Ser651Arg)
c.2058C>A (p.Ser686Arg)
c.1965C>A (p.Ser655Arg)
c.2064C>A (p.Ser688Arg)
c.2094C>A (p.Ser698Arg)
c.2085C>A (p.Ser695Arg)
c.2055C>A (p.Ser685Arg)
c.1998C>A (p.Ser666Arg)
c.1944C>A (p.Ser648Arg)
c.1737C>A (p.Ser579Arg)
c.2151C>A (p.Ser717Arg)
c.2145C>A (p.Ser715Arg)
c.2142C>A (p.Ser714Arg)
c.2202C>A (p.Ser734Arg)
c.2193C>A (p.Ser731Arg)
c.2112C>A (p.Ser704Arg)
c.2061C>A (p.Ser687Arg)
14g.33800350C>GCA389413656NPAS3c.2043C>G (p.Ser681Arg)
c.2052C>G (p.Ser684Arg)
c.1943C>G
c.793+2769C>G
c.1947C>G (p.Ser649Arg)
c.2004C>G (p.Ser668Arg)
c.1953C>G (p.Ser651Arg)
c.2058C>G (p.Ser686Arg)
c.1965C>G (p.Ser655Arg)
c.2064C>G (p.Ser688Arg)
c.2094C>G (p.Ser698Arg)
c.2085C>G (p.Ser695Arg)
c.2055C>G (p.Ser685Arg)
c.1998C>G (p.Ser666Arg)
c.1944C>G (p.Ser648Arg)
c.1737C>G (p.Ser579Arg)
c.2151C>G (p.Ser717Arg)
c.2145C>G (p.Ser715Arg)
c.2142C>G (p.Ser714Arg)
c.2202C>G (p.Ser734Arg)
c.2193C>G (p.Ser731Arg)
c.2112C>G (p.Ser704Arg)
c.2061C>G (p.Ser687Arg)
14g.33800350C>TCA486093036NPAS3c.2043C>T (p.Ser681=)
c.2052C>T (p.Ser684=)
c.1943C>T
c.793+2769C>T
c.1947C>T (p.Ser649=)
c.2004C>T (p.Ser668=)
c.1953C>T (p.Ser651=)
c.2058C>T (p.Ser686=)
c.1965C>T (p.Ser655=)
c.2064C>T (p.Ser688=)
c.2094C>T (p.Ser698=)
c.2085C>T (p.Ser695=)
c.2055C>T (p.Ser685=)
c.1998C>T (p.Ser666=)
c.1944C>T (p.Ser648=)
c.1737C>T (p.Ser579=)
c.2151C>T (p.Ser717=)
c.2145C>T (p.Ser715=)
c.2142C>T (p.Ser714=)
c.2202C>T (p.Ser734=)
c.2193C>T (p.Ser731=)
c.2112C>T (p.Ser704=)
c.2061C>T (p.Ser687=)
14g.33800351A=CA2128327294NPAS3c.2044A= (p.Met682=)
c.2053A= (p.Met685=)
c.1944A=
c.793+2770A=
c.1948A= (p.Met650=)
c.2005A= (p.Met669=)
c.1954A= (p.Met652=)
c.2059A= (p.Met687=)
c.1966A= (p.Met656=)
c.2065A= (p.Met689=)
c.2095A= (p.Met699=)
c.2086A= (p.Met696=)
c.2056A= (p.Met686=)
c.1999A= (p.Met667=)
c.1945A= (p.Met649=)
c.1738A= (p.Met580=)
c.2152A= (p.Met718=)
c.2146A= (p.Met716=)
c.2143A= (p.Met715=)
c.2203A= (p.Met735=)
c.2194A= (p.Met732=)
c.2113A= (p.Met705=)
c.2062A= (p.Met688=)
14g.33800351A>CCA389413661NPAS3c.2044A>C (p.Met682Leu)
c.2053A>C (p.Met685Leu)
c.1944A>C
c.793+2770A>C
c.1948A>C (p.Met650Leu)
c.2005A>C (p.Met669Leu)
c.1954A>C (p.Met652Leu)
c.2059A>C (p.Met687Leu)
c.1966A>C (p.Met656Leu)
c.2065A>C (p.Met689Leu)
c.2095A>C (p.Met699Leu)
c.2086A>C (p.Met696Leu)
c.2056A>C (p.Met686Leu)
c.1999A>C (p.Met667Leu)
c.1945A>C (p.Met649Leu)
c.1738A>C (p.Met580Leu)
c.2152A>C (p.Met718Leu)
c.2146A>C (p.Met716Leu)
c.2143A>C (p.Met715Leu)
c.2203A>C (p.Met735Leu)
c.2194A>C (p.Met732Leu)
c.2113A>C (p.Met705Leu)
c.2062A>C (p.Met688Leu)
14g.33800351A>GCA389413662NPAS3c.2044A>G (p.Met682Val)
c.2053A>G (p.Met685Val)
c.1944A>G
c.793+2770A>G
c.1948A>G (p.Met650Val)
c.2005A>G (p.Met669Val)
c.1954A>G (p.Met652Val)
c.2059A>G (p.Met687Val)
c.1966A>G (p.Met656Val)
c.2065A>G (p.Met689Val)
c.2095A>G (p.Met699Val)
c.2086A>G (p.Met696Val)
c.2056A>G (p.Met686Val)
c.1999A>G (p.Met667Val)
c.1945A>G (p.Met649Val)
c.1738A>G (p.Met580Val)
c.2152A>G (p.Met718Val)
c.2146A>G (p.Met716Val)
c.2143A>G (p.Met715Val)
c.2203A>G (p.Met735Val)
c.2194A>G (p.Met732Val)
c.2113A>G (p.Met705Val)
c.2062A>G (p.Met688Val)
 dbSNP gnomAD v2 gnomAD v4
14g.33800351A>TCA389413664NPAS3c.2044A>T (p.Met682Leu)
c.2053A>T (p.Met685Leu)
c.1944A>T
c.793+2770A>T
c.1948A>T (p.Met650Leu)
c.2005A>T (p.Met669Leu)
c.1954A>T (p.Met652Leu)
c.2059A>T (p.Met687Leu)
c.1966A>T (p.Met656Leu)
c.2065A>T (p.Met689Leu)
c.2095A>T (p.Met699Leu)
c.2086A>T (p.Met696Leu)
c.2056A>T (p.Met686Leu)
c.1999A>T (p.Met667Leu)
c.1945A>T (p.Met649Leu)
c.1738A>T (p.Met580Leu)
c.2152A>T (p.Met718Leu)
c.2146A>T (p.Met716Leu)
c.2143A>T (p.Met715Leu)
c.2203A>T (p.Met735Leu)
c.2194A>T (p.Met732Leu)
c.2113A>T (p.Met705Leu)
c.2062A>T (p.Met688Leu)
 dbSNP gnomAD v3 gnomAD v4
14g.33800352T>ACA389413666NPAS3c.2045T>A (p.Met682Lys)
c.2054T>A (p.Met685Lys)
c.1945T>A
c.793+2771T>A
c.1949T>A (p.Met650Lys)
c.2006T>A (p.Met669Lys)
c.1955T>A (p.Met652Lys)
c.2060T>A (p.Met687Lys)
c.1967T>A (p.Met656Lys)
c.2066T>A (p.Met689Lys)
c.2096T>A (p.Met699Lys)
c.2087T>A (p.Met696Lys)
c.2057T>A (p.Met686Lys)
c.2000T>A (p.Met667Lys)
c.1946T>A (p.Met649Lys)
c.1739T>A (p.Met580Lys)
c.2153T>A (p.Met718Lys)
c.2147T>A (p.Met716Lys)
c.2144T>A (p.Met715Lys)
c.2204T>A (p.Met735Lys)
c.2195T>A (p.Met732Lys)
c.2114T>A (p.Met705Lys)
c.2063T>A (p.Met688Lys)
14g.33800352T>CCA389413668NPAS3c.2045T>C (p.Met682Thr)
c.2054T>C (p.Met685Thr)
c.1945T>C
c.793+2771T>C
c.1949T>C (p.Met650Thr)
c.2006T>C (p.Met669Thr)
c.1955T>C (p.Met652Thr)
c.2060T>C (p.Met687Thr)
c.1967T>C (p.Met656Thr)
c.2066T>C (p.Met689Thr)
c.2096T>C (p.Met699Thr)
c.2087T>C (p.Met696Thr)
c.2057T>C (p.Met686Thr)
c.2000T>C (p.Met667Thr)
c.1946T>C (p.Met649Thr)
c.1739T>C (p.Met580Thr)
c.2153T>C (p.Met718Thr)
c.2147T>C (p.Met716Thr)
c.2144T>C (p.Met715Thr)
c.2204T>C (p.Met735Thr)
c.2195T>C (p.Met732Thr)
c.2114T>C (p.Met705Thr)
c.2063T>C (p.Met688Thr)
14g.33800352T>GCA389413670NPAS3c.2045T>G (p.Met682Arg)
c.2054T>G (p.Met685Arg)
c.1945T>G
c.793+2771T>G
c.1949T>G (p.Met650Arg)
c.2006T>G (p.Met669Arg)
c.1955T>G (p.Met652Arg)
c.2060T>G (p.Met687Arg)
c.1967T>G (p.Met656Arg)
c.2066T>G (p.Met689Arg)
c.2096T>G (p.Met699Arg)
c.2087T>G (p.Met696Arg)
c.2057T>G (p.Met686Arg)
c.2000T>G (p.Met667Arg)
c.1946T>G (p.Met649Arg)
c.1739T>G (p.Met580Arg)
c.2153T>G (p.Met718Arg)
c.2147T>G (p.Met716Arg)
c.2144T>G (p.Met715Arg)
c.2204T>G (p.Met735Arg)
c.2195T>G (p.Met732Arg)
c.2114T>G (p.Met705Arg)
c.2063T>G (p.Met688Arg)
14g.33800353G>ACA389413672NPAS3c.2046G>A (p.Met682Ile)
c.2055G>A (p.Met685Ile)
c.1946G>A
c.793+2772G>A
c.1950G>A (p.Met650Ile)
c.2007G>A (p.Met669Ile)
c.1956G>A (p.Met652Ile)
c.2061G>A (p.Met687Ile)
c.1968G>A (p.Met656Ile)
c.2067G>A (p.Met689Ile)
c.2097G>A (p.Met699Ile)
c.2088G>A (p.Met696Ile)
c.2058G>A (p.Met686Ile)
c.2001G>A (p.Met667Ile)
c.1947G>A (p.Met649Ile)
c.1740G>A (p.Met580Ile)
c.2154G>A (p.Met718Ile)
c.2148G>A (p.Met716Ile)
c.2145G>A (p.Met715Ile)
c.2205G>A (p.Met735Ile)
c.2196G>A (p.Met732Ile)
c.2115G>A (p.Met705Ile)
c.2064G>A (p.Met688Ile)
 dbSNP gnomAD v2 gnomAD v4
14g.33800353G>CCA389413674NPAS3c.2046G>C (p.Met682Ile)
c.2055G>C (p.Met685Ile)
c.1946G>C
c.793+2772G>C
c.1950G>C (p.Met650Ile)
c.2007G>C (p.Met669Ile)
c.1956G>C (p.Met652Ile)
c.2061G>C (p.Met687Ile)
c.1968G>C (p.Met656Ile)
c.2067G>C (p.Met689Ile)
c.2097G>C (p.Met699Ile)
c.2088G>C (p.Met696Ile)
c.2058G>C (p.Met686Ile)
c.2001G>C (p.Met667Ile)
c.1947G>C (p.Met649Ile)
c.1740G>C (p.Met580Ile)
c.2154G>C (p.Met718Ile)
c.2148G>C (p.Met716Ile)
c.2145G>C (p.Met715Ile)
c.2205G>C (p.Met735Ile)
c.2196G>C (p.Met732Ile)
c.2115G>C (p.Met705Ile)
c.2064G>C (p.Met688Ile)
 COSMIC COSMIC COSMIC
14g.33800353G=CA2128327298NPAS3c.2046G= (p.Met682=)
c.2055G= (p.Met685=)
c.1946G=
c.793+2772G=
c.1950G= (p.Met650=)
c.2007G= (p.Met669=)
c.1956G= (p.Met652=)
c.2061G= (p.Met687=)
c.1968G= (p.Met656=)
c.2067G= (p.Met689=)
c.2097G= (p.Met699=)
c.2088G= (p.Met696=)
c.2058G= (p.Met686=)
c.2001G= (p.Met667=)
c.1947G= (p.Met649=)
c.1740G= (p.Met580=)
c.2154G= (p.Met718=)
c.2148G= (p.Met716=)
c.2145G= (p.Met715=)
c.2205G= (p.Met735=)
c.2196G= (p.Met732=)
c.2115G= (p.Met705=)
c.2064G= (p.Met688=)
14g.33800353G>TCA389413676NPAS3c.2046G>T (p.Met682Ile)
c.2055G>T (p.Met685Ile)
c.1946G>T
c.793+2772G>T
c.1950G>T (p.Met650Ile)
c.2007G>T (p.Met669Ile)
c.1956G>T (p.Met652Ile)
c.2061G>T (p.Met687Ile)
c.1968G>T (p.Met656Ile)
c.2067G>T (p.Met689Ile)
c.2097G>T (p.Met699Ile)
c.2088G>T (p.Met696Ile)
c.2058G>T (p.Met686Ile)
c.2001G>T (p.Met667Ile)
c.1947G>T (p.Met649Ile)
c.1740G>T (p.Met580Ile)
c.2154G>T (p.Met718Ile)
c.2148G>T (p.Met716Ile)
c.2145G>T (p.Met715Ile)
c.2205G>T (p.Met735Ile)
c.2196G>T (p.Met732Ile)
c.2115G>T (p.Met705Ile)
c.2064G>T (p.Met688Ile)
 gnomAD v4
14g.33800354A>CCA389413679NPAS3c.2047A>C (p.Thr683Pro)
c.2056A>C (p.Thr686Pro)
c.1947A>C
c.793+2773A>C
c.1951A>C (p.Thr651Pro)
c.2008A>C (p.Thr670Pro)
c.1957A>C (p.Thr653Pro)
c.2062A>C (p.Thr688Pro)
c.1969A>C (p.Thr657Pro)
c.2068A>C (p.Thr690Pro)
c.2098A>C (p.Thr700Pro)
c.2089A>C (p.Thr697Pro)
c.2059A>C (p.Thr687Pro)
c.2002A>C (p.Thr668Pro)
c.1948A>C (p.Thr650Pro)
c.1741A>C (p.Thr581Pro)
c.2155A>C (p.Thr719Pro)
c.2149A>C (p.Thr717Pro)
c.2146A>C (p.Thr716Pro)
c.2206A>C (p.Thr736Pro)
c.2197A>C (p.Thr733Pro)
c.2116A>C (p.Thr706Pro)
c.2065A>C (p.Thr689Pro)
 gnomAD v4
14g.33800354A>GCA389413681NPAS3c.2047A>G (p.Thr683Ala)
c.2056A>G (p.Thr686Ala)
c.1947A>G
c.793+2773A>G
c.1951A>G (p.Thr651Ala)
c.2008A>G (p.Thr670Ala)
c.1957A>G (p.Thr653Ala)
c.2062A>G (p.Thr688Ala)
c.1969A>G (p.Thr657Ala)
c.2068A>G (p.Thr690Ala)
c.2098A>G (p.Thr700Ala)
c.2089A>G (p.Thr697Ala)
c.2059A>G (p.Thr687Ala)
c.2002A>G (p.Thr668Ala)
c.1948A>G (p.Thr650Ala)
c.1741A>G (p.Thr581Ala)
c.2155A>G (p.Thr719Ala)
c.2149A>G (p.Thr717Ala)
c.2146A>G (p.Thr716Ala)
c.2206A>G (p.Thr736Ala)
c.2197A>G (p.Thr733Ala)
c.2116A>G (p.Thr706Ala)
c.2065A>G (p.Thr689Ala)
 gnomAD v4
14g.33800354A>TCA389413682NPAS3c.2047A>T (p.Thr683Ser)
c.2056A>T (p.Thr686Ser)
c.1947A>T
c.793+2773A>T
c.1951A>T (p.Thr651Ser)
c.2008A>T (p.Thr670Ser)
c.1957A>T (p.Thr653Ser)
c.2062A>T (p.Thr688Ser)
c.1969A>T (p.Thr657Ser)
c.2068A>T (p.Thr690Ser)
c.2098A>T (p.Thr700Ser)
c.2089A>T (p.Thr697Ser)
c.2059A>T (p.Thr687Ser)
c.2002A>T (p.Thr668Ser)
c.1948A>T (p.Thr650Ser)
c.1741A>T (p.Thr581Ser)
c.2155A>T (p.Thr719Ser)
c.2149A>T (p.Thr717Ser)
c.2146A>T (p.Thr716Ser)
c.2206A>T (p.Thr736Ser)
c.2197A>T (p.Thr733Ser)
c.2116A>T (p.Thr706Ser)
c.2065A>T (p.Thr689Ser)
14g.33800355C>ACA389413686NPAS3c.2048C>A (p.Thr683Asn)
c.2057C>A (p.Thr686Asn)
c.1948C>A
c.793+2774C>A
c.1952C>A (p.Thr651Asn)
c.2009C>A (p.Thr670Asn)
c.1958C>A (p.Thr653Asn)
c.2063C>A (p.Thr688Asn)
c.1970C>A (p.Thr657Asn)
c.2069C>A (p.Thr690Asn)
c.2099C>A (p.Thr700Asn)
c.2090C>A (p.Thr697Asn)
c.2060C>A (p.Thr687Asn)
c.2003C>A (p.Thr668Asn)
c.1949C>A (p.Thr650Asn)
c.1742C>A (p.Thr581Asn)
c.2156C>A (p.Thr719Asn)
c.2150C>A (p.Thr717Asn)
c.2147C>A (p.Thr716Asn)
c.2207C>A (p.Thr736Asn)
c.2198C>A (p.Thr733Asn)
c.2117C>A (p.Thr706Asn)
c.2066C>A (p.Thr689Asn)
 gnomAD v4
14g.33800355C>GCA389413687NPAS3c.2048C>G (p.Thr683Ser)
c.2057C>G (p.Thr686Ser)
c.1948C>G
c.793+2774C>G
c.1952C>G (p.Thr651Ser)
c.2009C>G (p.Thr670Ser)
c.1958C>G (p.Thr653Ser)
c.2063C>G (p.Thr688Ser)
c.1970C>G (p.Thr657Ser)
c.2069C>G (p.Thr690Ser)
c.2099C>G (p.Thr700Ser)
c.2090C>G (p.Thr697Ser)
c.2060C>G (p.Thr687Ser)
c.2003C>G (p.Thr668Ser)
c.1949C>G (p.Thr650Ser)
c.1742C>G (p.Thr581Ser)
c.2156C>G (p.Thr719Ser)
c.2150C>G (p.Thr717Ser)
c.2147C>G (p.Thr716Ser)
c.2207C>G (p.Thr736Ser)
c.2198C>G (p.Thr733Ser)
c.2117C>G (p.Thr706Ser)
c.2066C>G (p.Thr689Ser)
14g.33800355C>TCA389413684NPAS3c.2048C>T (p.Thr683Ile)
c.2057C>T (p.Thr686Ile)
c.1948C>T
c.793+2774C>T
c.1952C>T (p.Thr651Ile)
c.2009C>T (p.Thr670Ile)
c.1958C>T (p.Thr653Ile)
c.2063C>T (p.Thr688Ile)
c.1970C>T (p.Thr657Ile)
c.2069C>T (p.Thr690Ile)
c.2099C>T (p.Thr700Ile)
c.2090C>T (p.Thr697Ile)
c.2060C>T (p.Thr687Ile)
c.2003C>T (p.Thr668Ile)
c.1949C>T (p.Thr650Ile)
c.1742C>T (p.Thr581Ile)
c.2156C>T (p.Thr719Ile)
c.2150C>T (p.Thr717Ile)
c.2147C>T (p.Thr716Ile)
c.2207C>T (p.Thr736Ile)
c.2198C>T (p.Thr733Ile)
c.2117C>T (p.Thr706Ile)
c.2066C>T (p.Thr689Ile)
14g.33800356C>ACA486093042NPAS3c.2049C>A (p.Thr683=)
c.2058C>A (p.Thr686=)
c.1949C>A
c.793+2775C>A
c.1953C>A (p.Thr651=)
c.2010C>A (p.Thr670=)
c.1959C>A (p.Thr653=)
c.2064C>A (p.Thr688=)
c.1971C>A (p.Thr657=)
c.2070C>A (p.Thr690=)
c.2100C>A (p.Thr700=)
c.2091C>A (p.Thr697=)
c.2061C>A (p.Thr687=)
c.2004C>A (p.Thr668=)
c.1950C>A (p.Thr650=)
c.1743C>A (p.Thr581=)
c.2157C>A (p.Thr719=)
c.2151C>A (p.Thr717=)
c.2148C>A (p.Thr716=)
c.2208C>A (p.Thr736=)
c.2199C>A (p.Thr733=)
c.2118C>A (p.Thr706=)
c.2067C>A (p.Thr689=)
14g.33800356C=CA2128327299NPAS3c.2049C= (p.Thr683=)
c.2058C= (p.Thr686=)
c.1949C=
c.793+2775C=
c.1953C= (p.Thr651=)
c.2010C= (p.Thr670=)
c.1959C= (p.Thr653=)
c.2064C= (p.Thr688=)
c.1971C= (p.Thr657=)
c.2070C= (p.Thr690=)
c.2100C= (p.Thr700=)
c.2091C= (p.Thr697=)
c.2061C= (p.Thr687=)
c.2004C= (p.Thr668=)
c.1950C= (p.Thr650=)
c.1743C= (p.Thr581=)
c.2157C= (p.Thr719=)
c.2151C= (p.Thr717=)
c.2148C= (p.Thr716=)
c.2208C= (p.Thr736=)
c.2199C= (p.Thr733=)
c.2118C= (p.Thr706=)
c.2067C= (p.Thr689=)
14g.33800356C>GCA486093043NPAS3c.2049C>G (p.Thr683=)
c.2058C>G (p.Thr686=)
c.1949C>G
c.793+2775C>G
c.1953C>G (p.Thr651=)
c.2010C>G (p.Thr670=)
c.1959C>G (p.Thr653=)
c.2064C>G (p.Thr688=)
c.1971C>G (p.Thr657=)
c.2070C>G (p.Thr690=)
c.2100C>G (p.Thr700=)
c.2091C>G (p.Thr697=)
c.2061C>G (p.Thr687=)
c.2004C>G (p.Thr668=)
c.1950C>G (p.Thr650=)
c.1743C>G (p.Thr581=)
c.2157C>G (p.Thr719=)
c.2151C>G (p.Thr717=)
c.2148C>G (p.Thr716=)
c.2208C>G (p.Thr736=)
c.2199C>G (p.Thr733=)
c.2118C>G (p.Thr706=)
c.2067C>G (p.Thr689=)
 dbSNP gnomAD v2 gnomAD v4
14g.33800356C>TCA486093044NPAS3c.2049C>T (p.Thr683=)
c.2058C>T (p.Thr686=)
c.1949C>T
c.793+2775C>T
c.1953C>T (p.Thr651=)
c.2010C>T (p.Thr670=)
c.1959C>T (p.Thr653=)
c.2064C>T (p.Thr688=)
c.1971C>T (p.Thr657=)
c.2070C>T (p.Thr690=)
c.2100C>T (p.Thr700=)
c.2091C>T (p.Thr697=)
c.2061C>T (p.Thr687=)
c.2004C>T (p.Thr668=)
c.1950C>T (p.Thr650=)
c.1743C>T (p.Thr581=)
c.2157C>T (p.Thr719=)
c.2151C>T (p.Thr717=)
c.2148C>T (p.Thr716=)
c.2208C>T (p.Thr736=)
c.2199C>T (p.Thr733=)
c.2118C>T (p.Thr706=)
c.2067C>T (p.Thr689=)
14g.33800357A>CCA389413689NPAS3c.2050A>C (p.Lys684Gln)
c.2059A>C (p.Lys687Gln)
c.1950A>C
c.793+2776A>C
c.1954A>C (p.Lys652Gln)
c.2011A>C (p.Lys671Gln)
c.1960A>C (p.Lys654Gln)
c.2065A>C (p.Lys689Gln)
c.1972A>C (p.Lys658Gln)
c.2071A>C (p.Lys691Gln)
c.2101A>C (p.Lys701Gln)
c.2092A>C (p.Lys698Gln)
c.2062A>C (p.Lys688Gln)
c.2005A>C (p.Lys669Gln)
c.1951A>C (p.Lys651Gln)
c.1744A>C (p.Lys582Gln)
c.2158A>C (p.Lys720Gln)
c.2152A>C (p.Lys718Gln)
c.2149A>C (p.Lys717Gln)
c.2209A>C (p.Lys737Gln)
c.2200A>C (p.Lys734Gln)
c.2119A>C (p.Lys707Gln)
c.2068A>C (p.Lys690Gln)
14g.33800357A>GCA389413690NPAS3c.2050A>G (p.Lys684Glu)
c.2059A>G (p.Lys687Glu)
c.1950A>G
c.793+2776A>G
c.1954A>G (p.Lys652Glu)
c.2011A>G (p.Lys671Glu)
c.1960A>G (p.Lys654Glu)
c.2065A>G (p.Lys689Glu)
c.1972A>G (p.Lys658Glu)
c.2071A>G (p.Lys691Glu)
c.2101A>G (p.Lys701Glu)
c.2092A>G (p.Lys698Glu)
c.2062A>G (p.Lys688Glu)
c.2005A>G (p.Lys669Glu)
c.1951A>G (p.Lys651Glu)
c.1744A>G (p.Lys582Glu)
c.2158A>G (p.Lys720Glu)
c.2152A>G (p.Lys718Glu)
c.2149A>G (p.Lys717Glu)
c.2209A>G (p.Lys737Glu)
c.2200A>G (p.Lys734Glu)
c.2119A>G (p.Lys707Glu)
c.2068A>G (p.Lys690Glu)
14g.33800357A>TCA389413692NPAS3c.2050A>T (p.Lys684Ter)
c.2059A>T (p.Lys687Ter)
c.1950A>T
c.793+2776A>T
c.1954A>T (p.Lys652Ter)
c.2011A>T (p.Lys671Ter)
c.1960A>T (p.Lys654Ter)
c.2065A>T (p.Lys689Ter)
c.1972A>T (p.Lys658Ter)
c.2071A>T (p.Lys691Ter)
c.2101A>T (p.Lys701Ter)
c.2092A>T (p.Lys698Ter)
c.2062A>T (p.Lys688Ter)
c.2005A>T (p.Lys669Ter)
c.1951A>T (p.Lys651Ter)
c.1744A>T (p.Lys582Ter)
c.2158A>T (p.Lys720Ter)
c.2152A>T (p.Lys718Ter)
c.2149A>T (p.Lys717Ter)
c.2209A>T (p.Lys737Ter)
c.2200A>T (p.Lys734Ter)
c.2119A>T (p.Lys707Ter)
c.2068A>T (p.Lys690Ter)
14g.33800358A>CCA389413694NPAS3c.2051A>C (p.Lys684Thr)
c.2060A>C (p.Lys687Thr)
c.1951A>C
c.793+2777A>C
c.1955A>C (p.Lys652Thr)
c.2012A>C (p.Lys671Thr)
c.1961A>C (p.Lys654Thr)
c.2066A>C (p.Lys689Thr)
c.1973A>C (p.Lys658Thr)
c.2072A>C (p.Lys691Thr)
c.2102A>C (p.Lys701Thr)
c.2093A>C (p.Lys698Thr)
c.2063A>C (p.Lys688Thr)
c.2006A>C (p.Lys669Thr)
c.1952A>C (p.Lys651Thr)
c.1745A>C (p.Lys582Thr)
c.2159A>C (p.Lys720Thr)
c.2153A>C (p.Lys718Thr)
c.2150A>C (p.Lys717Thr)
c.2210A>C (p.Lys737Thr)
c.2201A>C (p.Lys734Thr)
c.2120A>C (p.Lys707Thr)
c.2069A>C (p.Lys690Thr)
 gnomAD v4
14g.33800358A>GCA389413695NPAS3c.2051A>G (p.Lys684Arg)
c.2060A>G (p.Lys687Arg)
c.1951A>G
c.793+2777A>G
c.1955A>G (p.Lys652Arg)
c.2012A>G (p.Lys671Arg)
c.1961A>G (p.Lys654Arg)
c.2066A>G (p.Lys689Arg)
c.1973A>G (p.Lys658Arg)
c.2072A>G (p.Lys691Arg)
c.2102A>G (p.Lys701Arg)
c.2093A>G (p.Lys698Arg)
c.2063A>G (p.Lys688Arg)
c.2006A>G (p.Lys669Arg)
c.1952A>G (p.Lys651Arg)
c.1745A>G (p.Lys582Arg)
c.2159A>G (p.Lys720Arg)
c.2153A>G (p.Lys718Arg)
c.2150A>G (p.Lys717Arg)
c.2210A>G (p.Lys737Arg)
c.2201A>G (p.Lys734Arg)
c.2120A>G (p.Lys707Arg)
c.2069A>G (p.Lys690Arg)
14g.33800358A>TCA389413697NPAS3c.2051A>T (p.Lys684Met)
c.2060A>T (p.Lys687Met)
c.1951A>T
c.793+2777A>T
c.1955A>T (p.Lys652Met)
c.2012A>T (p.Lys671Met)
c.1961A>T (p.Lys654Met)
c.2066A>T (p.Lys689Met)
c.1973A>T (p.Lys658Met)
c.2072A>T (p.Lys691Met)
c.2102A>T (p.Lys701Met)
c.2093A>T (p.Lys698Met)
c.2063A>T (p.Lys688Met)
c.2006A>T (p.Lys669Met)
c.1952A>T (p.Lys651Met)
c.1745A>T (p.Lys582Met)
c.2159A>T (p.Lys720Met)
c.2153A>T (p.Lys718Met)
c.2150A>T (p.Lys717Met)
c.2210A>T (p.Lys737Met)
c.2201A>T (p.Lys734Met)
c.2120A>T (p.Lys707Met)
c.2069A>T (p.Lys690Met)
14g.33800359G>ACA486093045NPAS3c.2052G>A (p.Lys684=)
c.2061G>A (p.Lys687=)
c.1952G>A
c.793+2778G>A
c.1956G>A (p.Lys652=)
c.2013G>A (p.Lys671=)
c.1962G>A (p.Lys654=)
c.2067G>A (p.Lys689=)
c.1974G>A (p.Lys658=)
c.2073G>A (p.Lys691=)
c.2103G>A (p.Lys701=)
c.2094G>A (p.Lys698=)
c.2064G>A (p.Lys688=)
c.2007G>A (p.Lys669=)
c.1953G>A (p.Lys651=)
c.1746G>A (p.Lys582=)
c.2160G>A (p.Lys720=)
c.2154G>A (p.Lys718=)
c.2151G>A (p.Lys717=)
c.2211G>A (p.Lys737=)
c.2202G>A (p.Lys734=)
c.2121G>A (p.Lys707=)
c.2070G>A (p.Lys690=)
14g.33800359G>CCA389413699NPAS3c.2052G>C (p.Lys684Asn)
c.2061G>C (p.Lys687Asn)
c.1952G>C
c.793+2778G>C
c.1956G>C (p.Lys652Asn)
c.2013G>C (p.Lys671Asn)
c.1962G>C (p.Lys654Asn)
c.2067G>C (p.Lys689Asn)
c.1974G>C (p.Lys658Asn)
c.2073G>C (p.Lys691Asn)
c.2103G>C (p.Lys701Asn)
c.2094G>C (p.Lys698Asn)
c.2064G>C (p.Lys688Asn)
c.2007G>C (p.Lys669Asn)
c.1953G>C (p.Lys651Asn)
c.1746G>C (p.Lys582Asn)
c.2160G>C (p.Lys720Asn)
c.2154G>C (p.Lys718Asn)
c.2151G>C (p.Lys717Asn)
c.2211G>C (p.Lys737Asn)
c.2202G>C (p.Lys734Asn)
c.2121G>C (p.Lys707Asn)
c.2070G>C (p.Lys690Asn)
14g.33800359G>TCA389413701NPAS3c.2052G>T (p.Lys684Asn)
c.2061G>T (p.Lys687Asn)
c.1952G>T
c.793+2778G>T
c.1956G>T (p.Lys652Asn)
c.2013G>T (p.Lys671Asn)
c.1962G>T (p.Lys654Asn)
c.2067G>T (p.Lys689Asn)
c.1974G>T (p.Lys658Asn)
c.2073G>T (p.Lys691Asn)
c.2103G>T (p.Lys701Asn)
c.2094G>T (p.Lys698Asn)
c.2064G>T (p.Lys688Asn)
c.2007G>T (p.Lys669Asn)
c.1953G>T (p.Lys651Asn)
c.1746G>T (p.Lys582Asn)
c.2160G>T (p.Lys720Asn)
c.2154G>T (p.Lys718Asn)
c.2151G>T (p.Lys717Asn)
c.2211G>T (p.Lys737Asn)
c.2202G>T (p.Lys734Asn)
c.2121G>T (p.Lys707Asn)
c.2070G>T (p.Lys690Asn)
14g.33800360C>ACA7150927NPAS3c.2053C>A (p.Pro685Thr)
c.2062C>A (p.Pro688Thr)
c.1953C>A
c.793+2779C>A
c.1957C>A (p.Pro653Thr)
c.2014C>A (p.Pro672Thr)
c.1963C>A (p.Pro655Thr)
c.2068C>A (p.Pro690Thr)
c.1975C>A (p.Pro659Thr)
c.2074C>A (p.Pro692Thr)
c.2104C>A (p.Pro702Thr)
c.2095C>A (p.Pro699Thr)
c.2065C>A (p.Pro689Thr)
c.2008C>A (p.Pro670Thr)
c.1954C>A (p.Pro652Thr)
c.1747C>A (p.Pro583Thr)
c.2161C>A (p.Pro721Thr)
c.2155C>A (p.Pro719Thr)
c.2152C>A (p.Pro718Thr)
c.2212C>A (p.Pro738Thr)
c.2203C>A (p.Pro735Thr)
c.2122C>A (p.Pro708Thr)
c.2071C>A (p.Pro691Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800360C=CA2128327303NPAS3c.2053C= (p.Pro685=)
c.2062C= (p.Pro688=)
c.1953C=
c.793+2779C=
c.1957C= (p.Pro653=)
c.2014C= (p.Pro672=)
c.1963C= (p.Pro655=)
c.2068C= (p.Pro690=)
c.1975C= (p.Pro659=)
c.2074C= (p.Pro692=)
c.2104C= (p.Pro702=)
c.2095C= (p.Pro699=)
c.2065C= (p.Pro689=)
c.2008C= (p.Pro670=)
c.1954C= (p.Pro652=)
c.1747C= (p.Pro583=)
c.2161C= (p.Pro721=)
c.2155C= (p.Pro719=)
c.2152C= (p.Pro718=)
c.2212C= (p.Pro738=)
c.2203C= (p.Pro735=)
c.2122C= (p.Pro708=)
c.2071C= (p.Pro691=)
14g.33800360C>GCA389413704NPAS3c.2053C>G (p.Pro685Ala)
c.2062C>G (p.Pro688Ala)
c.1953C>G
c.793+2779C>G
c.1957C>G (p.Pro653Ala)
c.2014C>G (p.Pro672Ala)
c.1963C>G (p.Pro655Ala)
c.2068C>G (p.Pro690Ala)
c.1975C>G (p.Pro659Ala)
c.2074C>G (p.Pro692Ala)
c.2104C>G (p.Pro702Ala)
c.2095C>G (p.Pro699Ala)
c.2065C>G (p.Pro689Ala)
c.2008C>G (p.Pro670Ala)
c.1954C>G (p.Pro652Ala)
c.1747C>G (p.Pro583Ala)
c.2161C>G (p.Pro721Ala)
c.2155C>G (p.Pro719Ala)
c.2152C>G (p.Pro718Ala)
c.2212C>G (p.Pro738Ala)
c.2203C>G (p.Pro735Ala)
c.2122C>G (p.Pro708Ala)
c.2071C>G (p.Pro691Ala)
 dbSNP gnomAD v4
14g.33800360C>TCA389413706NPAS3c.2053C>T (p.Pro685Ser)
c.2062C>T (p.Pro688Ser)
c.1953C>T
c.793+2779C>T
c.1957C>T (p.Pro653Ser)
c.2014C>T (p.Pro672Ser)
c.1963C>T (p.Pro655Ser)
c.2068C>T (p.Pro690Ser)
c.1975C>T (p.Pro659Ser)
c.2074C>T (p.Pro692Ser)
c.2104C>T (p.Pro702Ser)
c.2095C>T (p.Pro699Ser)
c.2065C>T (p.Pro689Ser)
c.2008C>T (p.Pro670Ser)
c.1954C>T (p.Pro652Ser)
c.1747C>T (p.Pro583Ser)
c.2161C>T (p.Pro721Ser)
c.2155C>T (p.Pro719Ser)
c.2152C>T (p.Pro718Ser)
c.2212C>T (p.Pro738Ser)
c.2203C>T (p.Pro735Ser)
c.2122C>T (p.Pro708Ser)
c.2071C>T (p.Pro691Ser)
 dbSNP gnomAD v4
14g.33800365dupCA2624512029NPAS3c.2058dup (p.Ser687GlnfsTer3)
c.2067dup (p.Ser690GlnfsTer3)
c.1958dup
c.793+2784dup
c.1962dup (p.Ser655GlnfsTer3)
c.2019dup (p.Ser674GlnfsTer3)
c.1968dup (p.Ser657GlnfsTer3)
c.2073dup (p.Ser692GlnfsTer3)
c.1980dup (p.Ser661GlnfsTer3)
c.2079dup (p.Ser694GlnfsTer3)
c.2109dup (p.Ser704GlnfsTer3)
c.2100dup (p.Ser701GlnfsTer3)
c.2070dup (p.Ser691GlnfsTer3)
c.2013dup (p.Ser672GlnfsTer3)
c.1959dup (p.Ser654GlnfsTer3)
c.1752dup (p.Ser585GlnfsTer3)
c.2166dup (p.Ser723GlnfsTer3)
c.2160dup (p.Ser721GlnfsTer3)
c.2157dup (p.Ser720GlnfsTer3)
c.2217dup (p.Ser740GlnfsTer3)
c.2208dup (p.Ser737GlnfsTer3)
c.2127dup (p.Ser710GlnfsTer3)
c.2076dup (p.Ser693GlnfsTer3)
 gnomAD v4
14g.33800365delCA2624512030NPAS3c.2058del (p.Ser687AlafsTer?)
c.2067del (p.Ser690AlafsTer?)
c.1958del
c.793+2784del
c.1962del (p.Ser655AlafsTer?)
c.2019del (p.Ser674AlafsTer?)
c.1968del (p.Ser657AlafsTer?)
c.2073del (p.Ser692AlafsTer?)
c.1980del (p.Ser661AlafsTer?)
c.2079del (p.Ser694AlafsTer?)
c.2109del (p.Ser704AlafsTer?)
c.2100del (p.Ser701AlafsTer?)
c.2070del (p.Ser691AlafsTer?)
c.2013del (p.Ser672AlafsTer?)
c.1959del (p.Ser654AlafsTer?)
c.1752del (p.Ser585AlafsTer?)
c.2166del (p.Ser723AlafsTer?)
c.2160del (p.Ser721AlafsTer?)
c.2157del (p.Ser720AlafsTer?)
c.2217del (p.Ser740AlafsTer?)
c.2208del (p.Ser737AlafsTer?)
c.2127del (p.Ser710AlafsTer?)
c.2076del (p.Ser693AlafsTer?)
 gnomAD v4
14g.33800360_33800361insACA2729381255NPAS3c.2053_2054insA (p.Pro685HisfsTer5)
c.2062_2063insA (p.Pro688HisfsTer5)
c.1953_1954insA
c.793+2779_793+2780insA
c.1957_1958insA (p.Pro653HisfsTer5)
c.2014_2015insA (p.Pro672HisfsTer5)
c.1963_1964insA (p.Pro655HisfsTer5)
c.2068_2069insA (p.Pro690HisfsTer5)
c.1975_1976insA (p.Pro659HisfsTer5)
c.2074_2075insA (p.Pro692HisfsTer5)
c.2104_2105insA (p.Pro702HisfsTer5)
c.2095_2096insA (p.Pro699HisfsTer5)
c.2065_2066insA (p.Pro689HisfsTer5)
c.2008_2009insA (p.Pro670HisfsTer5)
c.1954_1955insA (p.Pro652HisfsTer5)
c.1747_1748insA (p.Pro583HisfsTer5)
c.2161_2162insA (p.Pro721HisfsTer5)
c.2155_2156insA (p.Pro719HisfsTer5)
c.2152_2153insA (p.Pro718HisfsTer5)
c.2212_2213insA (p.Pro738HisfsTer5)
c.2203_2204insA (p.Pro735HisfsTer5)
c.2122_2123insA (p.Pro708HisfsTer5)
c.2071_2072insA (p.Pro691HisfsTer5)
 dbSNP
14g.33800361C>ACA389413708NPAS3c.2054C>A (p.Pro685His)
c.2063C>A (p.Pro688His)
c.1954C>A
c.793+2780C>A
c.1958C>A (p.Pro653His)
c.2015C>A (p.Pro672His)
c.1964C>A (p.Pro655His)
c.2069C>A (p.Pro690His)
c.1976C>A (p.Pro659His)
c.2075C>A (p.Pro692His)
c.2105C>A (p.Pro702His)
c.2096C>A (p.Pro699His)
c.2066C>A (p.Pro689His)
c.2009C>A (p.Pro670His)
c.1955C>A (p.Pro652His)
c.1748C>A (p.Pro583His)
c.2162C>A (p.Pro721His)
c.2156C>A (p.Pro719His)
c.2153C>A (p.Pro718His)
c.2213C>A (p.Pro738His)
c.2204C>A (p.Pro735His)
c.2123C>A (p.Pro708His)
c.2072C>A (p.Pro691His)
14g.33800361C=CA2128327306NPAS3c.2054C= (p.Pro685=)
c.2063C= (p.Pro688=)
c.1954C=
c.793+2780C=
c.1958C= (p.Pro653=)
c.2015C= (p.Pro672=)
c.1964C= (p.Pro655=)
c.2069C= (p.Pro690=)
c.1976C= (p.Pro659=)
c.2075C= (p.Pro692=)
c.2105C= (p.Pro702=)
c.2096C= (p.Pro699=)
c.2066C= (p.Pro689=)
c.2009C= (p.Pro670=)
c.1955C= (p.Pro652=)
c.1748C= (p.Pro583=)
c.2162C= (p.Pro721=)
c.2156C= (p.Pro719=)
c.2153C= (p.Pro718=)
c.2213C= (p.Pro738=)
c.2204C= (p.Pro735=)
c.2123C= (p.Pro708=)
c.2072C= (p.Pro691=)
14g.33800361C>GCA389413710NPAS3c.2054C>G (p.Pro685Arg)
c.2063C>G (p.Pro688Arg)
c.1954C>G
c.793+2780C>G
c.1958C>G (p.Pro653Arg)
c.2015C>G (p.Pro672Arg)
c.1964C>G (p.Pro655Arg)
c.2069C>G (p.Pro690Arg)
c.1976C>G (p.Pro659Arg)
c.2075C>G (p.Pro692Arg)
c.2105C>G (p.Pro702Arg)
c.2096C>G (p.Pro699Arg)
c.2066C>G (p.Pro689Arg)
c.2009C>G (p.Pro670Arg)
c.1955C>G (p.Pro652Arg)
c.1748C>G (p.Pro583Arg)
c.2162C>G (p.Pro721Arg)
c.2156C>G (p.Pro719Arg)
c.2153C>G (p.Pro718Arg)
c.2213C>G (p.Pro738Arg)
c.2204C>G (p.Pro735Arg)
c.2123C>G (p.Pro708Arg)
c.2072C>G (p.Pro691Arg)
14g.33800361C>TCA389413712NPAS3c.2054C>T (p.Pro685Leu)
c.2063C>T (p.Pro688Leu)
c.1954C>T
c.793+2780C>T
c.1958C>T (p.Pro653Leu)
c.2015C>T (p.Pro672Leu)
c.1964C>T (p.Pro655Leu)
c.2069C>T (p.Pro690Leu)
c.1976C>T (p.Pro659Leu)
c.2075C>T (p.Pro692Leu)
c.2105C>T (p.Pro702Leu)
c.2096C>T (p.Pro699Leu)
c.2066C>T (p.Pro689Leu)
c.2009C>T (p.Pro670Leu)
c.1955C>T (p.Pro652Leu)
c.1748C>T (p.Pro583Leu)
c.2162C>T (p.Pro721Leu)
c.2156C>T (p.Pro719Leu)
c.2153C>T (p.Pro718Leu)
c.2213C>T (p.Pro738Leu)
c.2204C>T (p.Pro735Leu)
c.2123C>T (p.Pro708Leu)
c.2072C>T (p.Pro691Leu)
 dbSNP gnomAD v2 gnomAD v4
14g.33800362C>ACA486093051NPAS3c.2055C>A (p.Pro685=)
c.2064C>A (p.Pro688=)
c.1955C>A
c.793+2781C>A
c.1959C>A (p.Pro653=)
c.2016C>A (p.Pro672=)
c.1965C>A (p.Pro655=)
c.2070C>A (p.Pro690=)
c.1977C>A (p.Pro659=)
c.2076C>A (p.Pro692=)
c.2106C>A (p.Pro702=)
c.2097C>A (p.Pro699=)
c.2067C>A (p.Pro689=)
c.2010C>A (p.Pro670=)
c.1956C>A (p.Pro652=)
c.1749C>A (p.Pro583=)
c.2163C>A (p.Pro721=)
c.2157C>A (p.Pro719=)
c.2154C>A (p.Pro718=)
c.2214C>A (p.Pro738=)
c.2205C>A (p.Pro735=)
c.2124C>A (p.Pro708=)
c.2073C>A (p.Pro691=)
14g.33800362C=CA2128327309NPAS3c.2055C= (p.Pro685=)
c.2064C= (p.Pro688=)
c.1955C=
c.793+2781C=
c.1959C= (p.Pro653=)
c.2016C= (p.Pro672=)
c.1965C= (p.Pro655=)
c.2070C= (p.Pro690=)
c.1977C= (p.Pro659=)
c.2076C= (p.Pro692=)
c.2106C= (p.Pro702=)
c.2097C= (p.Pro699=)
c.2067C= (p.Pro689=)
c.2010C= (p.Pro670=)
c.1956C= (p.Pro652=)
c.1749C= (p.Pro583=)
c.2163C= (p.Pro721=)
c.2157C= (p.Pro719=)
c.2154C= (p.Pro718=)
c.2214C= (p.Pro738=)
c.2205C= (p.Pro735=)
c.2124C= (p.Pro708=)
c.2073C= (p.Pro691=)
14g.33800362C>GCA486093049NPAS3c.2055C>G (p.Pro685=)
c.2064C>G (p.Pro688=)
c.1955C>G
c.793+2781C>G
c.1959C>G (p.Pro653=)
c.2016C>G (p.Pro672=)
c.1965C>G (p.Pro655=)
c.2070C>G (p.Pro690=)
c.1977C>G (p.Pro659=)
c.2076C>G (p.Pro692=)
c.2106C>G (p.Pro702=)
c.2097C>G (p.Pro699=)
c.2067C>G (p.Pro689=)
c.2010C>G (p.Pro670=)
c.1956C>G (p.Pro652=)
c.1749C>G (p.Pro583=)
c.2163C>G (p.Pro721=)
c.2157C>G (p.Pro719=)
c.2154C>G (p.Pro718=)
c.2214C>G (p.Pro738=)
c.2205C>G (p.Pro735=)
c.2124C>G (p.Pro708=)
c.2073C>G (p.Pro691=)
14g.33800362C>TCA486093050NPAS3c.2055C>T (p.Pro685=)
c.2064C>T (p.Pro688=)
c.1955C>T
c.793+2781C>T
c.1959C>T (p.Pro653=)
c.2016C>T (p.Pro672=)
c.1965C>T (p.Pro655=)
c.2070C>T (p.Pro690=)
c.1977C>T (p.Pro659=)
c.2076C>T (p.Pro692=)
c.2106C>T (p.Pro702=)
c.2097C>T (p.Pro699=)
c.2067C>T (p.Pro689=)
c.2010C>T (p.Pro670=)
c.1956C>T (p.Pro652=)
c.1749C>T (p.Pro583=)
c.2163C>T (p.Pro721=)
c.2157C>T (p.Pro719=)
c.2154C>T (p.Pro718=)
c.2214C>T (p.Pro738=)
c.2205C>T (p.Pro735=)
c.2124C>T (p.Pro708=)
c.2073C>T (p.Pro691=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800363C>ACA389413716NPAS3c.2056C>A (p.Pro686Thr)
c.2065C>A (p.Pro689Thr)
c.1956C>A
c.793+2782C>A
c.1960C>A (p.Pro654Thr)
c.2017C>A (p.Pro673Thr)
c.1966C>A (p.Pro656Thr)
c.2071C>A (p.Pro691Thr)
c.1978C>A (p.Pro660Thr)
c.2077C>A (p.Pro693Thr)
c.2107C>A (p.Pro703Thr)
c.2098C>A (p.Pro700Thr)
c.2068C>A (p.Pro690Thr)
c.2011C>A (p.Pro671Thr)
c.1957C>A (p.Pro653Thr)
c.1750C>A (p.Pro584Thr)
c.2164C>A (p.Pro722Thr)
c.2158C>A (p.Pro720Thr)
c.2155C>A (p.Pro719Thr)
c.2215C>A (p.Pro739Thr)
c.2206C>A (p.Pro736Thr)
c.2125C>A (p.Pro709Thr)
c.2074C>A (p.Pro692Thr)
14g.33800363C>GCA389413717NPAS3c.2056C>G (p.Pro686Ala)
c.2065C>G (p.Pro689Ala)
c.1956C>G
c.793+2782C>G
c.1960C>G (p.Pro654Ala)
c.2017C>G (p.Pro673Ala)
c.1966C>G (p.Pro656Ala)
c.2071C>G (p.Pro691Ala)
c.1978C>G (p.Pro660Ala)
c.2077C>G (p.Pro693Ala)
c.2107C>G (p.Pro703Ala)
c.2098C>G (p.Pro700Ala)
c.2068C>G (p.Pro690Ala)
c.2011C>G (p.Pro671Ala)
c.1957C>G (p.Pro653Ala)
c.1750C>G (p.Pro584Ala)
c.2164C>G (p.Pro722Ala)
c.2158C>G (p.Pro720Ala)
c.2155C>G (p.Pro719Ala)
c.2215C>G (p.Pro739Ala)
c.2206C>G (p.Pro736Ala)
c.2125C>G (p.Pro709Ala)
c.2074C>G (p.Pro692Ala)
14g.33800363C>TCA389413714NPAS3c.2056C>T (p.Pro686Ser)
c.2065C>T (p.Pro689Ser)
c.1956C>T
c.793+2782C>T
c.1960C>T (p.Pro654Ser)
c.2017C>T (p.Pro673Ser)
c.1966C>T (p.Pro656Ser)
c.2071C>T (p.Pro691Ser)
c.1978C>T (p.Pro660Ser)
c.2077C>T (p.Pro693Ser)
c.2107C>T (p.Pro703Ser)
c.2098C>T (p.Pro700Ser)
c.2068C>T (p.Pro690Ser)
c.2011C>T (p.Pro671Ser)
c.1957C>T (p.Pro653Ser)
c.1750C>T (p.Pro584Ser)
c.2164C>T (p.Pro722Ser)
c.2158C>T (p.Pro720Ser)
c.2155C>T (p.Pro719Ser)
c.2215C>T (p.Pro739Ser)
c.2206C>T (p.Pro736Ser)
c.2125C>T (p.Pro709Ser)
c.2074C>T (p.Pro692Ser)
14g.33800364C>ACA389413724NPAS3c.2057C>A (p.Pro686His)
c.2066C>A (p.Pro689His)
c.1957C>A
c.793+2783C>A
c.1961C>A (p.Pro654His)
c.2018C>A (p.Pro673His)
c.1967C>A (p.Pro656His)
c.2072C>A (p.Pro691His)
c.1979C>A (p.Pro660His)
c.2078C>A (p.Pro693His)
c.2108C>A (p.Pro703His)
c.2099C>A (p.Pro700His)
c.2069C>A (p.Pro690His)
c.2012C>A (p.Pro671His)
c.1958C>A (p.Pro653His)
c.1751C>A (p.Pro584His)
c.2165C>A (p.Pro722His)
c.2159C>A (p.Pro720His)
c.2156C>A (p.Pro719His)
c.2216C>A (p.Pro739His)
c.2207C>A (p.Pro736His)
c.2126C>A (p.Pro709His)
c.2075C>A (p.Pro692His)
14g.33800364C>GCA389413719NPAS3c.2057C>G (p.Pro686Arg)
c.2066C>G (p.Pro689Arg)
c.1957C>G
c.793+2783C>G
c.1961C>G (p.Pro654Arg)
c.2018C>G (p.Pro673Arg)
c.1967C>G (p.Pro656Arg)
c.2072C>G (p.Pro691Arg)
c.1979C>G (p.Pro660Arg)
c.2078C>G (p.Pro693Arg)
c.2108C>G (p.Pro703Arg)
c.2099C>G (p.Pro700Arg)
c.2069C>G (p.Pro690Arg)
c.2012C>G (p.Pro671Arg)
c.1958C>G (p.Pro653Arg)
c.1751C>G (p.Pro584Arg)
c.2165C>G (p.Pro722Arg)
c.2159C>G (p.Pro720Arg)
c.2156C>G (p.Pro719Arg)
c.2216C>G (p.Pro739Arg)
c.2207C>G (p.Pro736Arg)
c.2126C>G (p.Pro709Arg)
c.2075C>G (p.Pro692Arg)
 gnomAD v4
14g.33800364C>TCA389413722NPAS3c.2057C>T (p.Pro686Leu)
c.2066C>T (p.Pro689Leu)
c.1957C>T
c.793+2783C>T
c.1961C>T (p.Pro654Leu)
c.2018C>T (p.Pro673Leu)
c.1967C>T (p.Pro656Leu)
c.2072C>T (p.Pro691Leu)
c.1979C>T (p.Pro660Leu)
c.2078C>T (p.Pro693Leu)
c.2108C>T (p.Pro703Leu)
c.2099C>T (p.Pro700Leu)
c.2069C>T (p.Pro690Leu)
c.2012C>T (p.Pro671Leu)
c.1958C>T (p.Pro653Leu)
c.1751C>T (p.Pro584Leu)
c.2165C>T (p.Pro722Leu)
c.2159C>T (p.Pro720Leu)
c.2156C>T (p.Pro719Leu)
c.2216C>T (p.Pro739Leu)
c.2207C>T (p.Pro736Leu)
c.2126C>T (p.Pro709Leu)
c.2075C>T (p.Pro692Leu)
 gnomAD v4
14g.33800365C>ACA486093052NPAS3c.2058C>A (p.Pro686=)
c.2067C>A (p.Pro689=)
c.1958C>A
c.793+2784C>A
c.1962C>A (p.Pro654=)
c.2019C>A (p.Pro673=)
c.1968C>A (p.Pro656=)
c.2073C>A (p.Pro691=)
c.1980C>A (p.Pro660=)
c.2079C>A (p.Pro693=)
c.2109C>A (p.Pro703=)
c.2100C>A (p.Pro700=)
c.2070C>A (p.Pro690=)
c.2013C>A (p.Pro671=)
c.1959C>A (p.Pro653=)
c.1752C>A (p.Pro584=)
c.2166C>A (p.Pro722=)
c.2160C>A (p.Pro720=)
c.2157C>A (p.Pro719=)
c.2217C>A (p.Pro739=)
c.2208C>A (p.Pro736=)
c.2127C>A (p.Pro709=)
c.2076C>A (p.Pro692=)
 dbSNP gnomAD v2
14g.33800365C=CA2128327312NPAS3c.2058C= (p.Pro686=)
c.2067C= (p.Pro689=)
c.1958C=
c.793+2784C=
c.1962C= (p.Pro654=)
c.2019C= (p.Pro673=)
c.1968C= (p.Pro656=)
c.2073C= (p.Pro691=)
c.1980C= (p.Pro660=)
c.2079C= (p.Pro693=)
c.2109C= (p.Pro703=)
c.2100C= (p.Pro700=)
c.2070C= (p.Pro690=)
c.2013C= (p.Pro671=)
c.1959C= (p.Pro653=)
c.1752C= (p.Pro584=)
c.2166C= (p.Pro722=)
c.2160C= (p.Pro720=)
c.2157C= (p.Pro719=)
c.2217C= (p.Pro739=)
c.2208C= (p.Pro736=)
c.2127C= (p.Pro709=)
c.2076C= (p.Pro692=)
14g.33800365C>GCA486093054NPAS3c.2058C>G (p.Pro686=)
c.2067C>G (p.Pro689=)
c.1958C>G
c.793+2784C>G
c.1962C>G (p.Pro654=)
c.2019C>G (p.Pro673=)
c.1968C>G (p.Pro656=)
c.2073C>G (p.Pro691=)
c.1980C>G (p.Pro660=)
c.2079C>G (p.Pro693=)
c.2109C>G (p.Pro703=)
c.2100C>G (p.Pro700=)
c.2070C>G (p.Pro690=)
c.2013C>G (p.Pro671=)
c.1959C>G (p.Pro653=)
c.1752C>G (p.Pro584=)
c.2166C>G (p.Pro722=)
c.2160C>G (p.Pro720=)
c.2157C>G (p.Pro719=)
c.2217C>G (p.Pro739=)
c.2208C>G (p.Pro736=)
c.2127C>G (p.Pro709=)
c.2076C>G (p.Pro692=)
14g.33800365C>TCA486093056NPAS3c.2058C>T (p.Pro686=)
c.2067C>T (p.Pro689=)
c.1958C>T
c.793+2784C>T
c.1962C>T (p.Pro654=)
c.2019C>T (p.Pro673=)
c.1968C>T (p.Pro656=)
c.2073C>T (p.Pro691=)
c.1980C>T (p.Pro660=)
c.2079C>T (p.Pro693=)
c.2109C>T (p.Pro703=)
c.2100C>T (p.Pro700=)
c.2070C>T (p.Pro690=)
c.2013C>T (p.Pro671=)
c.1959C>T (p.Pro653=)
c.1752C>T (p.Pro584=)
c.2166C>T (p.Pro722=)
c.2160C>T (p.Pro720=)
c.2157C>T (p.Pro719=)
c.2217C>T (p.Pro739=)
c.2208C>T (p.Pro736=)
c.2127C>T (p.Pro709=)
c.2076C>T (p.Pro692=)
 gnomAD v4
14g.33800366A>CCA389413726NPAS3c.2059A>C (p.Ser687Arg)
c.2068A>C (p.Ser690Arg)
c.1959A>C
c.793+2785A>C
c.1963A>C (p.Ser655Arg)
c.2020A>C (p.Ser674Arg)
c.1969A>C (p.Ser657Arg)
c.2074A>C (p.Ser692Arg)
c.1981A>C (p.Ser661Arg)
c.2080A>C (p.Ser694Arg)
c.2110A>C (p.Ser704Arg)
c.2101A>C (p.Ser701Arg)
c.2071A>C (p.Ser691Arg)
c.2014A>C (p.Ser672Arg)
c.1960A>C (p.Ser654Arg)
c.1753A>C (p.Ser585Arg)
c.2167A>C (p.Ser723Arg)
c.2161A>C (p.Ser721Arg)
c.2158A>C (p.Ser720Arg)
c.2218A>C (p.Ser740Arg)
c.2209A>C (p.Ser737Arg)
c.2128A>C (p.Ser710Arg)
c.2077A>C (p.Ser693Arg)
14g.33800366A>GCA389413730NPAS3c.2059A>G (p.Ser687Gly)
c.2068A>G (p.Ser690Gly)
c.1959A>G
c.793+2785A>G
c.1963A>G (p.Ser655Gly)
c.2020A>G (p.Ser674Gly)
c.1969A>G (p.Ser657Gly)
c.2074A>G (p.Ser692Gly)
c.1981A>G (p.Ser661Gly)
c.2080A>G (p.Ser694Gly)
c.2110A>G (p.Ser704Gly)
c.2101A>G (p.Ser701Gly)
c.2071A>G (p.Ser691Gly)
c.2014A>G (p.Ser672Gly)
c.1960A>G (p.Ser654Gly)
c.1753A>G (p.Ser585Gly)
c.2167A>G (p.Ser723Gly)
c.2161A>G (p.Ser721Gly)
c.2158A>G (p.Ser720Gly)
c.2218A>G (p.Ser740Gly)
c.2209A>G (p.Ser737Gly)
c.2128A>G (p.Ser710Gly)
c.2077A>G (p.Ser693Gly)
14g.33800366A>TCA389413732NPAS3c.2059A>T (p.Ser687Cys)
c.2068A>T (p.Ser690Cys)
c.1959A>T
c.793+2785A>T
c.1963A>T (p.Ser655Cys)
c.2020A>T (p.Ser674Cys)
c.1969A>T (p.Ser657Cys)
c.2074A>T (p.Ser692Cys)
c.1981A>T (p.Ser661Cys)
c.2080A>T (p.Ser694Cys)
c.2110A>T (p.Ser704Cys)
c.2101A>T (p.Ser701Cys)
c.2071A>T (p.Ser691Cys)
c.2014A>T (p.Ser672Cys)
c.1960A>T (p.Ser654Cys)
c.1753A>T (p.Ser585Cys)
c.2167A>T (p.Ser723Cys)
c.2161A>T (p.Ser721Cys)
c.2158A>T (p.Ser720Cys)
c.2218A>T (p.Ser740Cys)
c.2209A>T (p.Ser737Cys)
c.2128A>T (p.Ser710Cys)
c.2077A>T (p.Ser693Cys)
14g.33800367G>ACA389413734NPAS3c.2060G>A (p.Ser687Asn)
c.2069G>A (p.Ser690Asn)
c.1960G>A
c.793+2786G>A
c.1964G>A (p.Ser655Asn)
c.2021G>A (p.Ser674Asn)
c.1970G>A (p.Ser657Asn)
c.2075G>A (p.Ser692Asn)
c.1982G>A (p.Ser661Asn)
c.2081G>A (p.Ser694Asn)
c.2111G>A (p.Ser704Asn)
c.2102G>A (p.Ser701Asn)
c.2072G>A (p.Ser691Asn)
c.2015G>A (p.Ser672Asn)
c.1961G>A (p.Ser654Asn)
c.1754G>A (p.Ser585Asn)
c.2168G>A (p.Ser723Asn)
c.2162G>A (p.Ser721Asn)
c.2159G>A (p.Ser720Asn)
c.2219G>A (p.Ser740Asn)
c.2210G>A (p.Ser737Asn)
c.2129G>A (p.Ser710Asn)
c.2078G>A (p.Ser693Asn)
14g.33800367G>CCA389413736NPAS3c.2060G>C (p.Ser687Thr)
c.2069G>C (p.Ser690Thr)
c.1960G>C
c.793+2786G>C
c.1964G>C (p.Ser655Thr)
c.2021G>C (p.Ser674Thr)
c.1970G>C (p.Ser657Thr)
c.2075G>C (p.Ser692Thr)
c.1982G>C (p.Ser661Thr)
c.2081G>C (p.Ser694Thr)
c.2111G>C (p.Ser704Thr)
c.2102G>C (p.Ser701Thr)
c.2072G>C (p.Ser691Thr)
c.2015G>C (p.Ser672Thr)
c.1961G>C (p.Ser654Thr)
c.1754G>C (p.Ser585Thr)
c.2168G>C (p.Ser723Thr)
c.2162G>C (p.Ser721Thr)
c.2159G>C (p.Ser720Thr)
c.2219G>C (p.Ser740Thr)
c.2210G>C (p.Ser737Thr)
c.2129G>C (p.Ser710Thr)
c.2078G>C (p.Ser693Thr)
 gnomAD v4
14g.33800367G=CA2128327314NPAS3c.2060G= (p.Ser687=)
c.2069G= (p.Ser690=)
c.1960G=
c.793+2786G=
c.1964G= (p.Ser655=)
c.2021G= (p.Ser674=)
c.1970G= (p.Ser657=)
c.2075G= (p.Ser692=)
c.1982G= (p.Ser661=)
c.2081G= (p.Ser694=)
c.2111G= (p.Ser704=)
c.2102G= (p.Ser701=)
c.2072G= (p.Ser691=)
c.2015G= (p.Ser672=)
c.1961G= (p.Ser654=)
c.1754G= (p.Ser585=)
c.2168G= (p.Ser723=)
c.2162G= (p.Ser721=)
c.2159G= (p.Ser720=)
c.2219G= (p.Ser740=)
c.2210G= (p.Ser737=)
c.2129G= (p.Ser710=)
c.2078G= (p.Ser693=)
14g.33800367G>TCA389413737NPAS3c.2060G>T (p.Ser687Ile)
c.2069G>T (p.Ser690Ile)
c.1960G>T
c.793+2786G>T
c.1964G>T (p.Ser655Ile)
c.2021G>T (p.Ser674Ile)
c.1970G>T (p.Ser657Ile)
c.2075G>T (p.Ser692Ile)
c.1982G>T (p.Ser661Ile)
c.2081G>T (p.Ser694Ile)
c.2111G>T (p.Ser704Ile)
c.2102G>T (p.Ser701Ile)
c.2072G>T (p.Ser691Ile)
c.2015G>T (p.Ser672Ile)
c.1961G>T (p.Ser654Ile)
c.1754G>T (p.Ser585Ile)
c.2168G>T (p.Ser723Ile)
c.2162G>T (p.Ser721Ile)
c.2159G>T (p.Ser720Ile)
c.2219G>T (p.Ser740Ile)
c.2210G>T (p.Ser737Ile)
c.2129G>T (p.Ser710Ile)
c.2078G>T (p.Ser693Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800368C>ACA389413739NPAS3c.2061C>A (p.Ser687Arg)
c.2070C>A (p.Ser690Arg)
c.1961C>A
c.793+2787C>A
c.1965C>A (p.Ser655Arg)
c.2022C>A (p.Ser674Arg)
c.1971C>A (p.Ser657Arg)
c.2076C>A (p.Ser692Arg)
c.1983C>A (p.Ser661Arg)
c.2082C>A (p.Ser694Arg)
c.2112C>A (p.Ser704Arg)
c.2103C>A (p.Ser701Arg)
c.2073C>A (p.Ser691Arg)
c.2016C>A (p.Ser672Arg)
c.1962C>A (p.Ser654Arg)
c.1755C>A (p.Ser585Arg)
c.2169C>A (p.Ser723Arg)
c.2163C>A (p.Ser721Arg)
c.2160C>A (p.Ser720Arg)
c.2220C>A (p.Ser740Arg)
c.2211C>A (p.Ser737Arg)
c.2130C>A (p.Ser710Arg)
c.2079C>A (p.Ser693Arg)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800368C=CA2128327316NPAS3c.2061C= (p.Ser687=)
c.2070C= (p.Ser690=)
c.1961C=
c.793+2787C=
c.1965C= (p.Ser655=)
c.2022C= (p.Ser674=)
c.1971C= (p.Ser657=)
c.2076C= (p.Ser692=)
c.1983C= (p.Ser661=)
c.2082C= (p.Ser694=)
c.2112C= (p.Ser704=)
c.2103C= (p.Ser701=)
c.2073C= (p.Ser691=)
c.2016C= (p.Ser672=)
c.1962C= (p.Ser654=)
c.1755C= (p.Ser585=)
c.2169C= (p.Ser723=)
c.2163C= (p.Ser721=)
c.2160C= (p.Ser720=)
c.2220C= (p.Ser740=)
c.2211C= (p.Ser737=)
c.2130C= (p.Ser710=)
c.2079C= (p.Ser693=)
14g.33800368C>GCA389413740NPAS3c.2061C>G (p.Ser687Arg)
c.2070C>G (p.Ser690Arg)
c.1961C>G
c.793+2787C>G
c.1965C>G (p.Ser655Arg)
c.2022C>G (p.Ser674Arg)
c.1971C>G (p.Ser657Arg)
c.2076C>G (p.Ser692Arg)
c.1983C>G (p.Ser661Arg)
c.2082C>G (p.Ser694Arg)
c.2112C>G (p.Ser704Arg)
c.2103C>G (p.Ser701Arg)
c.2073C>G (p.Ser691Arg)
c.2016C>G (p.Ser672Arg)
c.1962C>G (p.Ser654Arg)
c.1755C>G (p.Ser585Arg)
c.2169C>G (p.Ser723Arg)
c.2163C>G (p.Ser721Arg)
c.2160C>G (p.Ser720Arg)
c.2220C>G (p.Ser740Arg)
c.2211C>G (p.Ser737Arg)
c.2130C>G (p.Ser710Arg)
c.2079C>G (p.Ser693Arg)
14g.33800368C>TCA486093058NPAS3c.2061C>T (p.Ser687=)
c.2070C>T (p.Ser690=)
c.1961C>T
c.793+2787C>T
c.1965C>T (p.Ser655=)
c.2022C>T (p.Ser674=)
c.1971C>T (p.Ser657=)
c.2076C>T (p.Ser692=)
c.1983C>T (p.Ser661=)
c.2082C>T (p.Ser694=)
c.2112C>T (p.Ser704=)
c.2103C>T (p.Ser701=)
c.2073C>T (p.Ser691=)
c.2016C>T (p.Ser672=)
c.1962C>T (p.Ser654=)
c.1755C>T (p.Ser585=)
c.2169C>T (p.Ser723=)
c.2163C>T (p.Ser721=)
c.2160C>T (p.Ser720=)
c.2220C>T (p.Ser740=)
c.2211C>T (p.Ser737=)
c.2130C>T (p.Ser710=)
c.2079C>T (p.Ser693=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800369T>ACA389413743NPAS3c.2062T>A (p.Ser688Thr)
c.2071T>A (p.Ser691Thr)
c.1962T>A
c.793+2788T>A
c.1966T>A (p.Ser656Thr)
c.2023T>A (p.Ser675Thr)
c.1972T>A (p.Ser658Thr)
c.2077T>A (p.Ser693Thr)
c.1984T>A (p.Ser662Thr)
c.2083T>A (p.Ser695Thr)
c.2113T>A (p.Ser705Thr)
c.2104T>A (p.Ser702Thr)
c.2074T>A (p.Ser692Thr)
c.2017T>A (p.Ser673Thr)
c.1963T>A (p.Ser655Thr)
c.1756T>A (p.Ser586Thr)
c.2170T>A (p.Ser724Thr)
c.2164T>A (p.Ser722Thr)
c.2161T>A (p.Ser721Thr)
c.2221T>A (p.Ser741Thr)
c.2212T>A (p.Ser738Thr)
c.2131T>A (p.Ser711Thr)
c.2080T>A (p.Ser694Thr)
14g.33800369T>CCA389413744NPAS3c.2062T>C (p.Ser688Pro)
c.2071T>C (p.Ser691Pro)
c.1962T>C
c.793+2788T>C
c.1966T>C (p.Ser656Pro)
c.2023T>C (p.Ser675Pro)
c.1972T>C (p.Ser658Pro)
c.2077T>C (p.Ser693Pro)
c.1984T>C (p.Ser662Pro)
c.2083T>C (p.Ser695Pro)
c.2113T>C (p.Ser705Pro)
c.2104T>C (p.Ser702Pro)
c.2074T>C (p.Ser692Pro)
c.2017T>C (p.Ser673Pro)
c.1963T>C (p.Ser655Pro)
c.1756T>C (p.Ser586Pro)
c.2170T>C (p.Ser724Pro)
c.2164T>C (p.Ser722Pro)
c.2161T>C (p.Ser721Pro)
c.2221T>C (p.Ser741Pro)
c.2212T>C (p.Ser738Pro)
c.2131T>C (p.Ser711Pro)
c.2080T>C (p.Ser694Pro)
14g.33800369T>GCA389413745NPAS3c.2062T>G (p.Ser688Ala)
c.2071T>G (p.Ser691Ala)
c.1962T>G
c.793+2788T>G
c.1966T>G (p.Ser656Ala)
c.2023T>G (p.Ser675Ala)
c.1972T>G (p.Ser658Ala)
c.2077T>G (p.Ser693Ala)
c.1984T>G (p.Ser662Ala)
c.2083T>G (p.Ser695Ala)
c.2113T>G (p.Ser705Ala)
c.2104T>G (p.Ser702Ala)
c.2074T>G (p.Ser692Ala)
c.2017T>G (p.Ser673Ala)
c.1963T>G (p.Ser655Ala)
c.1756T>G (p.Ser586Ala)
c.2170T>G (p.Ser724Ala)
c.2164T>G (p.Ser722Ala)
c.2161T>G (p.Ser721Ala)
c.2221T>G (p.Ser741Ala)
c.2212T>G (p.Ser738Ala)
c.2131T>G (p.Ser711Ala)
c.2080T>G (p.Ser694Ala)
14g.33800370C>ACA389413748NPAS3c.2063C>A (p.Ser688Tyr)
c.2072C>A (p.Ser691Tyr)
c.1963C>A
c.793+2789C>A
c.1967C>A (p.Ser656Tyr)
c.2024C>A (p.Ser675Tyr)
c.1973C>A (p.Ser658Tyr)
c.2078C>A (p.Ser693Tyr)
c.1985C>A (p.Ser662Tyr)
c.2084C>A (p.Ser695Tyr)
c.2114C>A (p.Ser705Tyr)
c.2105C>A (p.Ser702Tyr)
c.2075C>A (p.Ser692Tyr)
c.2018C>A (p.Ser673Tyr)
c.1964C>A (p.Ser655Tyr)
c.1757C>A (p.Ser586Tyr)
c.2171C>A (p.Ser724Tyr)
c.2165C>A (p.Ser722Tyr)
c.2162C>A (p.Ser721Tyr)
c.2222C>A (p.Ser741Tyr)
c.2213C>A (p.Ser738Tyr)
c.2132C>A (p.Ser711Tyr)
c.2081C>A (p.Ser694Tyr)
14g.33800370C=CA2128327318NPAS3c.2063C= (p.Ser688=)
c.2072C= (p.Ser691=)
c.1963C=
c.793+2789C=
c.1967C= (p.Ser656=)
c.2024C= (p.Ser675=)
c.1973C= (p.Ser658=)
c.2078C= (p.Ser693=)
c.1985C= (p.Ser662=)
c.2084C= (p.Ser695=)
c.2114C= (p.Ser705=)
c.2105C= (p.Ser702=)
c.2075C= (p.Ser692=)
c.2018C= (p.Ser673=)
c.1964C= (p.Ser655=)
c.1757C= (p.Ser586=)
c.2171C= (p.Ser724=)
c.2165C= (p.Ser722=)
c.2162C= (p.Ser721=)
c.2222C= (p.Ser741=)
c.2213C= (p.Ser738=)
c.2132C= (p.Ser711=)
c.2081C= (p.Ser694=)
14g.33800370C>GCA389413750NPAS3c.2063C>G (p.Ser688Cys)
c.2072C>G (p.Ser691Cys)
c.1963C>G
c.793+2789C>G
c.1967C>G (p.Ser656Cys)
c.2024C>G (p.Ser675Cys)
c.1973C>G (p.Ser658Cys)
c.2078C>G (p.Ser693Cys)
c.1985C>G (p.Ser662Cys)
c.2084C>G (p.Ser695Cys)
c.2114C>G (p.Ser705Cys)
c.2105C>G (p.Ser702Cys)
c.2075C>G (p.Ser692Cys)
c.2018C>G (p.Ser673Cys)
c.1964C>G (p.Ser655Cys)
c.1757C>G (p.Ser586Cys)
c.2171C>G (p.Ser724Cys)
c.2165C>G (p.Ser722Cys)
c.2162C>G (p.Ser721Cys)
c.2222C>G (p.Ser741Cys)
c.2213C>G (p.Ser738Cys)
c.2132C>G (p.Ser711Cys)
c.2081C>G (p.Ser694Cys)
14g.33800370C>TCA7150928NPAS3c.2063C>T (p.Ser688Phe)
c.2072C>T (p.Ser691Phe)
c.1963C>T
c.793+2789C>T
c.1967C>T (p.Ser656Phe)
c.2024C>T (p.Ser675Phe)
c.1973C>T (p.Ser658Phe)
c.2078C>T (p.Ser693Phe)
c.1985C>T (p.Ser662Phe)
c.2084C>T (p.Ser695Phe)
c.2114C>T (p.Ser705Phe)
c.2105C>T (p.Ser702Phe)
c.2075C>T (p.Ser692Phe)
c.2018C>T (p.Ser673Phe)
c.1964C>T (p.Ser655Phe)
c.1757C>T (p.Ser586Phe)
c.2171C>T (p.Ser724Phe)
c.2165C>T (p.Ser722Phe)
c.2162C>T (p.Ser721Phe)
c.2222C>T (p.Ser741Phe)
c.2213C>T (p.Ser738Phe)
c.2132C>T (p.Ser711Phe)
c.2081C>T (p.Ser694Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800371T>ACA486093061NPAS3c.2064T>A (p.Ser688=)
c.2073T>A (p.Ser691=)
c.1964T>A
c.793+2790T>A
c.1968T>A (p.Ser656=)
c.2025T>A (p.Ser675=)
c.1974T>A (p.Ser658=)
c.2079T>A (p.Ser693=)
c.1986T>A (p.Ser662=)
c.2085T>A (p.Ser695=)
c.2115T>A (p.Ser705=)
c.2106T>A (p.Ser702=)
c.2076T>A (p.Ser692=)
c.2019T>A (p.Ser673=)
c.1965T>A (p.Ser655=)
c.1758T>A (p.Ser586=)
c.2172T>A (p.Ser724=)
c.2166T>A (p.Ser722=)
c.2163T>A (p.Ser721=)
c.2223T>A (p.Ser741=)
c.2214T>A (p.Ser738=)
c.2133T>A (p.Ser711=)
c.2082T>A (p.Ser694=)
14g.33800371T>CCA486093063NPAS3c.2064T>C (p.Ser688=)
c.2073T>C (p.Ser691=)
c.1964T>C
c.793+2790T>C
c.1968T>C (p.Ser656=)
c.2025T>C (p.Ser675=)
c.1974T>C (p.Ser658=)
c.2079T>C (p.Ser693=)
c.1986T>C (p.Ser662=)
c.2085T>C (p.Ser695=)
c.2115T>C (p.Ser705=)
c.2106T>C (p.Ser702=)
c.2076T>C (p.Ser692=)
c.2019T>C (p.Ser673=)
c.1965T>C (p.Ser655=)
c.1758T>C (p.Ser586=)
c.2172T>C (p.Ser724=)
c.2166T>C (p.Ser722=)
c.2163T>C (p.Ser721=)
c.2223T>C (p.Ser741=)
c.2214T>C (p.Ser738=)
c.2133T>C (p.Ser711=)
c.2082T>C (p.Ser694=)
 dbSNP
14g.33800371T>GCA486093064NPAS3c.2064T>G (p.Ser688=)
c.2073T>G (p.Ser691=)
c.1964T>G
c.793+2790T>G
c.1968T>G (p.Ser656=)
c.2025T>G (p.Ser675=)
c.1974T>G (p.Ser658=)
c.2079T>G (p.Ser693=)
c.1986T>G (p.Ser662=)
c.2085T>G (p.Ser695=)
c.2115T>G (p.Ser705=)
c.2106T>G (p.Ser702=)
c.2076T>G (p.Ser692=)
c.2019T>G (p.Ser673=)
c.1965T>G (p.Ser655=)
c.1758T>G (p.Ser586=)
c.2172T>G (p.Ser724=)
c.2166T>G (p.Ser722=)
c.2163T>G (p.Ser721=)
c.2223T>G (p.Ser741=)
c.2214T>G (p.Ser738=)
c.2133T>G (p.Ser711=)
c.2082T>G (p.Ser694=)
 dbSNP gnomAD v3 gnomAD v4
14g.33800371T=CA2128327321NPAS3c.2064T= (p.Ser688=)
c.2073T= (p.Ser691=)
c.1964T=
c.793+2790T=
c.1968T= (p.Ser656=)
c.2025T= (p.Ser675=)
c.1974T= (p.Ser658=)
c.2079T= (p.Ser693=)
c.1986T= (p.Ser662=)
c.2085T= (p.Ser695=)
c.2115T= (p.Ser705=)
c.2106T= (p.Ser702=)
c.2076T= (p.Ser692=)
c.2019T= (p.Ser673=)
c.1965T= (p.Ser655=)
c.1758T= (p.Ser586=)
c.2172T= (p.Ser724=)
c.2166T= (p.Ser722=)
c.2163T= (p.Ser721=)
c.2223T= (p.Ser741=)
c.2214T= (p.Ser738=)
c.2133T= (p.Ser711=)
c.2082T= (p.Ser694=)
14g.33800371_33800372delCA2575504024NPAS3c.2064_2065del (p.Glu689AlafsTer?)
c.2073_2074del (p.Glu692AlafsTer?)
c.1964_1965del
c.793+2790_793+2791del
c.1968_1969del (p.Glu657AlafsTer?)
c.2025_2026del (p.Glu676AlafsTer?)
c.1974_1975del (p.Glu659AlafsTer?)
c.2079_2080del (p.Glu694AlafsTer?)
c.1986_1987del (p.Glu663AlafsTer?)
c.2085_2086del (p.Glu696AlafsTer?)
c.2115_2116del (p.Glu706AlafsTer?)
c.2106_2107del (p.Glu703AlafsTer?)
c.2076_2077del (p.Glu693AlafsTer?)
c.2019_2020del (p.Glu674AlafsTer?)
c.1965_1966del (p.Glu656AlafsTer?)
c.1758_1759del (p.Glu587AlafsTer?)
c.2172_2173del (p.Glu725AlafsTer?)
c.2166_2167del (p.Glu723AlafsTer?)
c.2163_2164del (p.Glu722AlafsTer?)
c.2223_2224del (p.Glu742AlafsTer?)
c.2214_2215del (p.Glu739AlafsTer?)
c.2133_2134del (p.Glu712AlafsTer?)
c.2082_2083del (p.Glu695AlafsTer?)
14g.33800372G>ACA389413752NPAS3c.2065G>A (p.Glu689Lys)
c.2074G>A (p.Glu692Lys)
c.1965G>A
c.793+2791G>A
c.1969G>A (p.Glu657Lys)
c.2026G>A (p.Glu676Lys)
c.1975G>A (p.Glu659Lys)
c.2080G>A (p.Glu694Lys)
c.1987G>A (p.Glu663Lys)
c.2086G>A (p.Glu696Lys)
c.2116G>A (p.Glu706Lys)
c.2107G>A (p.Glu703Lys)
c.2077G>A (p.Glu693Lys)
c.2020G>A (p.Glu674Lys)
c.1966G>A (p.Glu656Lys)
c.1759G>A (p.Glu587Lys)
c.2173G>A (p.Glu725Lys)
c.2167G>A (p.Glu723Lys)
c.2164G>A (p.Glu722Lys)
c.2224G>A (p.Glu742Lys)
c.2215G>A (p.Glu739Lys)
c.2134G>A (p.Glu712Lys)
c.2083G>A (p.Glu695Lys)
14g.33800372G>CCA389413754NPAS3c.2065G>C (p.Glu689Gln)
c.2074G>C (p.Glu692Gln)
c.1965G>C
c.793+2791G>C
c.1969G>C (p.Glu657Gln)
c.2026G>C (p.Glu676Gln)
c.1975G>C (p.Glu659Gln)
c.2080G>C (p.Glu694Gln)
c.1987G>C (p.Glu663Gln)
c.2086G>C (p.Glu696Gln)
c.2116G>C (p.Glu706Gln)
c.2107G>C (p.Glu703Gln)
c.2077G>C (p.Glu693Gln)
c.2020G>C (p.Glu674Gln)
c.1966G>C (p.Glu656Gln)
c.1759G>C (p.Glu587Gln)
c.2173G>C (p.Glu725Gln)
c.2167G>C (p.Glu723Gln)
c.2164G>C (p.Glu722Gln)
c.2224G>C (p.Glu742Gln)
c.2215G>C (p.Glu739Gln)
c.2134G>C (p.Glu712Gln)
c.2083G>C (p.Glu695Gln)
14g.33800372G>TCA389413755NPAS3c.2065G>T (p.Glu689Ter)
c.2074G>T (p.Glu692Ter)
c.1965G>T
c.793+2791G>T
c.1969G>T (p.Glu657Ter)
c.2026G>T (p.Glu676Ter)
c.1975G>T (p.Glu659Ter)
c.2080G>T (p.Glu694Ter)
c.1987G>T (p.Glu663Ter)
c.2086G>T (p.Glu696Ter)
c.2116G>T (p.Glu706Ter)
c.2107G>T (p.Glu703Ter)
c.2077G>T (p.Glu693Ter)
c.2020G>T (p.Glu674Ter)
c.1966G>T (p.Glu656Ter)
c.1759G>T (p.Glu587Ter)
c.2173G>T (p.Glu725Ter)
c.2167G>T (p.Glu723Ter)
c.2164G>T (p.Glu722Ter)
c.2224G>T (p.Glu742Ter)
c.2215G>T (p.Glu739Ter)
c.2134G>T (p.Glu712Ter)
c.2083G>T (p.Glu695Ter)
14g.33800373A>CCA389413757NPAS3c.2066A>C (p.Glu689Ala)
c.2075A>C (p.Glu692Ala)
c.1966A>C
c.793+2792A>C
c.1970A>C (p.Glu657Ala)
c.2027A>C (p.Glu676Ala)
c.1976A>C (p.Glu659Ala)
c.2081A>C (p.Glu694Ala)
c.1988A>C (p.Glu663Ala)
c.2087A>C (p.Glu696Ala)
c.2117A>C (p.Glu706Ala)
c.2108A>C (p.Glu703Ala)
c.2078A>C (p.Glu693Ala)
c.2021A>C (p.Glu674Ala)
c.1967A>C (p.Glu656Ala)
c.1760A>C (p.Glu587Ala)
c.2174A>C (p.Glu725Ala)
c.2168A>C (p.Glu723Ala)
c.2165A>C (p.Glu722Ala)
c.2225A>C (p.Glu742Ala)
c.2216A>C (p.Glu739Ala)
c.2135A>C (p.Glu712Ala)
c.2084A>C (p.Glu695Ala)
 gnomAD v4
14g.33800373A>GCA389413759NPAS3c.2066A>G (p.Glu689Gly)
c.2075A>G (p.Glu692Gly)
c.1966A>G
c.793+2792A>G
c.1970A>G (p.Glu657Gly)
c.2027A>G (p.Glu676Gly)
c.1976A>G (p.Glu659Gly)
c.2081A>G (p.Glu694Gly)
c.1988A>G (p.Glu663Gly)
c.2087A>G (p.Glu696Gly)
c.2117A>G (p.Glu706Gly)
c.2108A>G (p.Glu703Gly)
c.2078A>G (p.Glu693Gly)
c.2021A>G (p.Glu674Gly)
c.1967A>G (p.Glu656Gly)
c.1760A>G (p.Glu587Gly)
c.2174A>G (p.Glu725Gly)
c.2168A>G (p.Glu723Gly)
c.2165A>G (p.Glu722Gly)
c.2225A>G (p.Glu742Gly)
c.2216A>G (p.Glu739Gly)
c.2135A>G (p.Glu712Gly)
c.2084A>G (p.Glu695Gly)
14g.33800373A>TCA389413761NPAS3c.2066A>T (p.Glu689Val)
c.2075A>T (p.Glu692Val)
c.1966A>T
c.793+2792A>T
c.1970A>T (p.Glu657Val)
c.2027A>T (p.Glu676Val)
c.1976A>T (p.Glu659Val)
c.2081A>T (p.Glu694Val)
c.1988A>T (p.Glu663Val)
c.2087A>T (p.Glu696Val)
c.2117A>T (p.Glu706Val)
c.2108A>T (p.Glu703Val)
c.2078A>T (p.Glu693Val)
c.2021A>T (p.Glu674Val)
c.1967A>T (p.Glu656Val)
c.1760A>T (p.Glu587Val)
c.2174A>T (p.Glu725Val)
c.2168A>T (p.Glu723Val)
c.2165A>T (p.Glu722Val)
c.2225A>T (p.Glu742Val)
c.2216A>T (p.Glu739Val)
c.2135A>T (p.Glu712Val)
c.2084A>T (p.Glu695Val)
14g.33800374G>ACA486093065NPAS3c.2067G>A (p.Glu689=)
c.2076G>A (p.Glu692=)
c.1967G>A
c.793+2793G>A
c.1971G>A (p.Glu657=)
c.2028G>A (p.Glu676=)
c.1977G>A (p.Glu659=)
c.2082G>A (p.Glu694=)
c.1989G>A (p.Glu663=)
c.2088G>A (p.Glu696=)
c.2118G>A (p.Glu706=)
c.2109G>A (p.Glu703=)
c.2079G>A (p.Glu693=)
c.2022G>A (p.Glu674=)
c.1968G>A (p.Glu656=)
c.1761G>A (p.Glu587=)
c.2175G>A (p.Glu725=)
c.2169G>A (p.Glu723=)
c.2166G>A (p.Glu722=)
c.2226G>A (p.Glu742=)
c.2217G>A (p.Glu739=)
c.2136G>A (p.Glu712=)
c.2085G>A (p.Glu695=)
 dbSNP
14g.33800374G>CCA389413763NPAS3c.2067G>C (p.Glu689Asp)
c.2076G>C (p.Glu692Asp)
c.1967G>C
c.793+2793G>C
c.1971G>C (p.Glu657Asp)
c.2028G>C (p.Glu676Asp)
c.1977G>C (p.Glu659Asp)
c.2082G>C (p.Glu694Asp)
c.1989G>C (p.Glu663Asp)
c.2088G>C (p.Glu696Asp)
c.2118G>C (p.Glu706Asp)
c.2109G>C (p.Glu703Asp)
c.2079G>C (p.Glu693Asp)
c.2022G>C (p.Glu674Asp)
c.1968G>C (p.Glu656Asp)
c.1761G>C (p.Glu587Asp)
c.2175G>C (p.Glu725Asp)
c.2169G>C (p.Glu723Asp)
c.2166G>C (p.Glu722Asp)
c.2226G>C (p.Glu742Asp)
c.2217G>C (p.Glu739Asp)
c.2136G>C (p.Glu712Asp)
c.2085G>C (p.Glu695Asp)
14g.33800374G=CA2128327324NPAS3c.2067G= (p.Glu689=)
c.2076G= (p.Glu692=)
c.1967G=
c.793+2793G=
c.1971G= (p.Glu657=)
c.2028G= (p.Glu676=)
c.1977G= (p.Glu659=)
c.2082G= (p.Glu694=)
c.1989G= (p.Glu663=)
c.2088G= (p.Glu696=)
c.2118G= (p.Glu706=)
c.2109G= (p.Glu703=)
c.2079G= (p.Glu693=)
c.2022G= (p.Glu674=)
c.1968G= (p.Glu656=)
c.1761G= (p.Glu587=)
c.2175G= (p.Glu725=)
c.2169G= (p.Glu723=)
c.2166G= (p.Glu722=)
c.2226G= (p.Glu742=)
c.2217G= (p.Glu739=)
c.2136G= (p.Glu712=)
c.2085G= (p.Glu695=)
14g.33800374G>TCA389413765NPAS3c.2067G>T (p.Glu689Asp)
c.2076G>T (p.Glu692Asp)
c.1967G>T
c.793+2793G>T
c.1971G>T (p.Glu657Asp)
c.2028G>T (p.Glu676Asp)
c.1977G>T (p.Glu659Asp)
c.2082G>T (p.Glu694Asp)
c.1989G>T (p.Glu663Asp)
c.2088G>T (p.Glu696Asp)
c.2118G>T (p.Glu706Asp)
c.2109G>T (p.Glu703Asp)
c.2079G>T (p.Glu693Asp)
c.2022G>T (p.Glu674Asp)
c.1968G>T (p.Glu656Asp)
c.1761G>T (p.Glu587Asp)
c.2175G>T (p.Glu725Asp)
c.2169G>T (p.Glu723Asp)
c.2166G>T (p.Glu722Asp)
c.2226G>T (p.Glu742Asp)
c.2217G>T (p.Glu739Asp)
c.2136G>T (p.Glu712Asp)
c.2085G>T (p.Glu695Asp)
14g.33800375C>ACA389413767NPAS3c.2068C>A (p.His690Asn)
c.2077C>A (p.His693Asn)
c.1968C>A
c.793+2794C>A
c.1972C>A (p.His658Asn)
c.2029C>A (p.His677Asn)
c.1978C>A (p.His660Asn)
c.2083C>A (p.His695Asn)
c.1990C>A (p.His664Asn)
c.2089C>A (p.His697Asn)
c.2119C>A (p.His707Asn)
c.2110C>A (p.His704Asn)
c.2080C>A (p.His694Asn)
c.2023C>A (p.His675Asn)
c.1969C>A (p.His657Asn)
c.1762C>A (p.His588Asn)
c.2176C>A (p.His726Asn)
c.2170C>A (p.His724Asn)
c.2167C>A (p.His723Asn)
c.2227C>A (p.His743Asn)
c.2218C>A (p.His740Asn)
c.2137C>A (p.His713Asn)
c.2086C>A (p.His696Asn)
14g.33800375C>GCA389413768NPAS3c.2068C>G (p.His690Asp)
c.2077C>G (p.His693Asp)
c.1968C>G
c.793+2794C>G
c.1972C>G (p.His658Asp)
c.2029C>G (p.His677Asp)
c.1978C>G (p.His660Asp)
c.2083C>G (p.His695Asp)
c.1990C>G (p.His664Asp)
c.2089C>G (p.His697Asp)
c.2119C>G (p.His707Asp)
c.2110C>G (p.His704Asp)
c.2080C>G (p.His694Asp)
c.2023C>G (p.His675Asp)
c.1969C>G (p.His657Asp)
c.1762C>G (p.His588Asp)
c.2176C>G (p.His726Asp)
c.2170C>G (p.His724Asp)
c.2167C>G (p.His723Asp)
c.2227C>G (p.His743Asp)
c.2218C>G (p.His740Asp)
c.2137C>G (p.His713Asp)
c.2086C>G (p.His696Asp)
14g.33800375C>TCA389413769NPAS3c.2068C>T (p.His690Tyr)
c.2077C>T (p.His693Tyr)
c.1968C>T
c.793+2794C>T
c.1972C>T (p.His658Tyr)
c.2029C>T (p.His677Tyr)
c.1978C>T (p.His660Tyr)
c.2083C>T (p.His695Tyr)
c.1990C>T (p.His664Tyr)
c.2089C>T (p.His697Tyr)
c.2119C>T (p.His707Tyr)
c.2110C>T (p.His704Tyr)
c.2080C>T (p.His694Tyr)
c.2023C>T (p.His675Tyr)
c.1969C>T (p.His657Tyr)
c.1762C>T (p.His588Tyr)
c.2176C>T (p.His726Tyr)
c.2170C>T (p.His724Tyr)
c.2167C>T (p.His723Tyr)
c.2227C>T (p.His743Tyr)
c.2218C>T (p.His740Tyr)
c.2137C>T (p.His713Tyr)
c.2086C>T (p.His696Tyr)
14g.33800376A=CA2128327327NPAS3c.2069A= (p.His690=)
c.2078A= (p.His693=)
c.1969A=
c.793+2795A=
c.1973A= (p.His658=)
c.2030A= (p.His677=)
c.1979A= (p.His660=)
c.2084A= (p.His695=)
c.1991A= (p.His664=)
c.2090A= (p.His697=)
c.2120A= (p.His707=)
c.2111A= (p.His704=)
c.2081A= (p.His694=)
c.2024A= (p.His675=)
c.1970A= (p.His657=)
c.1763A= (p.His588=)
c.2177A= (p.His726=)
c.2171A= (p.His724=)
c.2168A= (p.His723=)
c.2228A= (p.His743=)
c.2219A= (p.His740=)
c.2138A= (p.His713=)
c.2087A= (p.His696=)
14g.33800376A>CCA389413771NPAS3c.2069A>C (p.His690Pro)
c.2078A>C (p.His693Pro)
c.1969A>C
c.793+2795A>C
c.1973A>C (p.His658Pro)
c.2030A>C (p.His677Pro)
c.1979A>C (p.His660Pro)
c.2084A>C (p.His695Pro)
c.1991A>C (p.His664Pro)
c.2090A>C (p.His697Pro)
c.2120A>C (p.His707Pro)
c.2111A>C (p.His704Pro)
c.2081A>C (p.His694Pro)
c.2024A>C (p.His675Pro)
c.1970A>C (p.His657Pro)
c.1763A>C (p.His588Pro)
c.2177A>C (p.His726Pro)
c.2171A>C (p.His724Pro)
c.2168A>C (p.His723Pro)
c.2228A>C (p.His743Pro)
c.2219A>C (p.His740Pro)
c.2138A>C (p.His713Pro)
c.2087A>C (p.His696Pro)
14g.33800376A>GCA389413773NPAS3c.2069A>G (p.His690Arg)
c.2078A>G (p.His693Arg)
c.1969A>G
c.793+2795A>G
c.1973A>G (p.His658Arg)
c.2030A>G (p.His677Arg)
c.1979A>G (p.His660Arg)
c.2084A>G (p.His695Arg)
c.1991A>G (p.His664Arg)
c.2090A>G (p.His697Arg)
c.2120A>G (p.His707Arg)
c.2111A>G (p.His704Arg)
c.2081A>G (p.His694Arg)
c.2024A>G (p.His675Arg)
c.1970A>G (p.His657Arg)
c.1763A>G (p.His588Arg)
c.2177A>G (p.His726Arg)
c.2171A>G (p.His724Arg)
c.2168A>G (p.His723Arg)
c.2228A>G (p.His743Arg)
c.2219A>G (p.His740Arg)
c.2138A>G (p.His713Arg)
c.2087A>G (p.His696Arg)
 dbSNP
14g.33800376A>TCA389413775NPAS3c.2069A>T (p.His690Leu)
c.2078A>T (p.His693Leu)
c.1969A>T
c.793+2795A>T
c.1973A>T (p.His658Leu)
c.2030A>T (p.His677Leu)
c.1979A>T (p.His660Leu)
c.2084A>T (p.His695Leu)
c.1991A>T (p.His664Leu)
c.2090A>T (p.His697Leu)
c.2120A>T (p.His707Leu)
c.2111A>T (p.His704Leu)
c.2081A>T (p.His694Leu)
c.2024A>T (p.His675Leu)
c.1970A>T (p.His657Leu)
c.1763A>T (p.His588Leu)
c.2177A>T (p.His726Leu)
c.2171A>T (p.His724Leu)
c.2168A>T (p.His723Leu)
c.2228A>T (p.His743Leu)
c.2219A>T (p.His740Leu)
c.2138A>T (p.His713Leu)
c.2087A>T (p.His696Leu)
14g.33800377C>ACA7150929NPAS3c.2070C>A (p.His690Gln)
c.2079C>A (p.His693Gln)
c.1970C>A
c.793+2796C>A
c.1974C>A (p.His658Gln)
c.2031C>A (p.His677Gln)
c.1980C>A (p.His660Gln)
c.2085C>A (p.His695Gln)
c.1992C>A (p.His664Gln)
c.2091C>A (p.His697Gln)
c.2121C>A (p.His707Gln)
c.2112C>A (p.His704Gln)
c.2082C>A (p.His694Gln)
c.2025C>A (p.His675Gln)
c.1971C>A (p.His657Gln)
c.1764C>A (p.His588Gln)
c.2178C>A (p.His726Gln)
c.2172C>A (p.His724Gln)
c.2169C>A (p.His723Gln)
c.2229C>A (p.His743Gln)
c.2220C>A (p.His740Gln)
c.2139C>A (p.His713Gln)
c.2088C>A (p.His696Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800377C=CA2128327332NPAS3c.2070C= (p.His690=)
c.2079C= (p.His693=)
c.1970C=
c.793+2796C=
c.1974C= (p.His658=)
c.2031C= (p.His677=)
c.1980C= (p.His660=)
c.2085C= (p.His695=)
c.1992C= (p.His664=)
c.2091C= (p.His697=)
c.2121C= (p.His707=)
c.2112C= (p.His704=)
c.2082C= (p.His694=)
c.2025C= (p.His675=)
c.1971C= (p.His657=)
c.1764C= (p.His588=)
c.2178C= (p.His726=)
c.2172C= (p.His724=)
c.2169C= (p.His723=)
c.2229C= (p.His743=)
c.2220C= (p.His740=)
c.2139C= (p.His713=)
c.2088C= (p.His696=)
14g.33800377C>GCA389413780NPAS3c.2070C>G (p.His690Gln)
c.2079C>G (p.His693Gln)
c.1970C>G
c.793+2796C>G
c.1974C>G (p.His658Gln)
c.2031C>G (p.His677Gln)
c.1980C>G (p.His660Gln)
c.2085C>G (p.His695Gln)
c.1992C>G (p.His664Gln)
c.2091C>G (p.His697Gln)
c.2121C>G (p.His707Gln)
c.2112C>G (p.His704Gln)
c.2082C>G (p.His694Gln)
c.2025C>G (p.His675Gln)
c.1971C>G (p.His657Gln)
c.1764C>G (p.His588Gln)
c.2178C>G (p.His726Gln)
c.2172C>G (p.His724Gln)
c.2169C>G (p.His723Gln)
c.2229C>G (p.His743Gln)
c.2220C>G (p.His740Gln)
c.2139C>G (p.His713Gln)
c.2088C>G (p.His696Gln)
14g.33800377C>TCA486093069NPAS3c.2070C>T (p.His690=)
c.2079C>T (p.His693=)
c.1970C>T
c.793+2796C>T
c.1974C>T (p.His658=)
c.2031C>T (p.His677=)
c.1980C>T (p.His660=)
c.2085C>T (p.His695=)
c.1992C>T (p.His664=)
c.2091C>T (p.His697=)
c.2121C>T (p.His707=)
c.2112C>T (p.His704=)
c.2082C>T (p.His694=)
c.2025C>T (p.His675=)
c.1971C>T (p.His657=)
c.1764C>T (p.His588=)
c.2178C>T (p.His726=)
c.2172C>T (p.His724=)
c.2169C>T (p.His723=)
c.2229C>T (p.His743=)
c.2220C>T (p.His740=)
c.2139C>T (p.His713=)
c.2088C>T (p.His696=)
14g.33800378T>ACA389413784NPAS3c.2071T>A (p.Phe691Ile)
c.2080T>A (p.Phe694Ile)
c.1971T>A
c.793+2797T>A
c.1975T>A (p.Phe659Ile)
c.2032T>A (p.Phe678Ile)
c.1981T>A (p.Phe661Ile)
c.2086T>A (p.Phe696Ile)
c.1993T>A (p.Phe665Ile)
c.2092T>A (p.Phe698Ile)
c.2122T>A (p.Phe708Ile)
c.2113T>A (p.Phe705Ile)
c.2083T>A (p.Phe695Ile)
c.2026T>A (p.Phe676Ile)
c.1972T>A (p.Phe658Ile)
c.1765T>A (p.Phe589Ile)
c.2179T>A (p.Phe727Ile)
c.2173T>A (p.Phe725Ile)
c.2170T>A (p.Phe724Ile)
c.2230T>A (p.Phe744Ile)
c.2221T>A (p.Phe741Ile)
c.2140T>A (p.Phe714Ile)
c.2089T>A (p.Phe697Ile)
14g.33800378T>CCA389413787NPAS3c.2071T>C (p.Phe691Leu)
c.2080T>C (p.Phe694Leu)
c.1971T>C
c.793+2797T>C
c.1975T>C (p.Phe659Leu)
c.2032T>C (p.Phe678Leu)
c.1981T>C (p.Phe661Leu)
c.2086T>C (p.Phe696Leu)
c.1993T>C (p.Phe665Leu)
c.2092T>C (p.Phe698Leu)
c.2122T>C (p.Phe708Leu)
c.2113T>C (p.Phe705Leu)
c.2083T>C (p.Phe695Leu)
c.2026T>C (p.Phe676Leu)
c.1972T>C (p.Phe658Leu)
c.1765T>C (p.Phe589Leu)
c.2179T>C (p.Phe727Leu)
c.2173T>C (p.Phe725Leu)
c.2170T>C (p.Phe724Leu)
c.2230T>C (p.Phe744Leu)
c.2221T>C (p.Phe741Leu)
c.2140T>C (p.Phe714Leu)
c.2089T>C (p.Phe697Leu)
14g.33800378T>GCA389413785NPAS3c.2071T>G (p.Phe691Val)
c.2080T>G (p.Phe694Val)
c.1971T>G
c.793+2797T>G
c.1975T>G (p.Phe659Val)
c.2032T>G (p.Phe678Val)
c.1981T>G (p.Phe661Val)
c.2086T>G (p.Phe696Val)
c.1993T>G (p.Phe665Val)
c.2092T>G (p.Phe698Val)
c.2122T>G (p.Phe708Val)
c.2113T>G (p.Phe705Val)
c.2083T>G (p.Phe695Val)
c.2026T>G (p.Phe676Val)
c.1972T>G (p.Phe658Val)
c.1765T>G (p.Phe589Val)
c.2179T>G (p.Phe727Val)
c.2173T>G (p.Phe725Val)
c.2170T>G (p.Phe724Val)
c.2230T>G (p.Phe744Val)
c.2221T>G (p.Phe741Val)
c.2140T>G (p.Phe714Val)
c.2089T>G (p.Phe697Val)
14g.33800379T>ACA389413790NPAS3c.2072T>A (p.Phe691Tyr)
c.2081T>A (p.Phe694Tyr)
c.1972T>A
c.793+2798T>A
c.1976T>A (p.Phe659Tyr)
c.2033T>A (p.Phe678Tyr)
c.1982T>A (p.Phe661Tyr)
c.2087T>A (p.Phe696Tyr)
c.1994T>A (p.Phe665Tyr)
c.2093T>A (p.Phe698Tyr)
c.2123T>A (p.Phe708Tyr)
c.2114T>A (p.Phe705Tyr)
c.2084T>A (p.Phe695Tyr)
c.2027T>A (p.Phe676Tyr)
c.1973T>A (p.Phe658Tyr)
c.1766T>A (p.Phe589Tyr)
c.2180T>A (p.Phe727Tyr)
c.2174T>A (p.Phe725Tyr)
c.2171T>A (p.Phe724Tyr)
c.2231T>A (p.Phe744Tyr)
c.2222T>A (p.Phe741Tyr)
c.2141T>A (p.Phe714Tyr)
c.2090T>A (p.Phe697Tyr)
14g.33800379T>CCA389413792NPAS3c.2072T>C (p.Phe691Ser)
c.2081T>C (p.Phe694Ser)
c.1972T>C
c.793+2798T>C
c.1976T>C (p.Phe659Ser)
c.2033T>C (p.Phe678Ser)
c.1982T>C (p.Phe661Ser)
c.2087T>C (p.Phe696Ser)
c.1994T>C (p.Phe665Ser)
c.2093T>C (p.Phe698Ser)
c.2123T>C (p.Phe708Ser)
c.2114T>C (p.Phe705Ser)
c.2084T>C (p.Phe695Ser)
c.2027T>C (p.Phe676Ser)
c.1973T>C (p.Phe658Ser)
c.1766T>C (p.Phe589Ser)
c.2180T>C (p.Phe727Ser)
c.2174T>C (p.Phe725Ser)
c.2171T>C (p.Phe724Ser)
c.2231T>C (p.Phe744Ser)
c.2222T>C (p.Phe741Ser)
c.2141T>C (p.Phe714Ser)
c.2090T>C (p.Phe697Ser)
14g.33800379T>GCA389413794NPAS3c.2072T>G (p.Phe691Cys)
c.2081T>G (p.Phe694Cys)
c.1972T>G
c.793+2798T>G
c.1976T>G (p.Phe659Cys)
c.2033T>G (p.Phe678Cys)
c.1982T>G (p.Phe661Cys)
c.2087T>G (p.Phe696Cys)
c.1994T>G (p.Phe665Cys)
c.2093T>G (p.Phe698Cys)
c.2123T>G (p.Phe708Cys)
c.2114T>G (p.Phe705Cys)
c.2084T>G (p.Phe695Cys)
c.2027T>G (p.Phe676Cys)
c.1973T>G (p.Phe658Cys)
c.1766T>G (p.Phe589Cys)
c.2180T>G (p.Phe727Cys)
c.2174T>G (p.Phe725Cys)
c.2171T>G (p.Phe724Cys)
c.2231T>G (p.Phe744Cys)
c.2222T>G (p.Phe741Cys)
c.2141T>G (p.Phe714Cys)
c.2090T>G (p.Phe697Cys)
 gnomAD v4
14g.33800380C>ACA389413796NPAS3c.2073C>A (p.Phe691Leu)
c.2082C>A (p.Phe694Leu)
c.1973C>A
c.793+2799C>A
c.1977C>A (p.Phe659Leu)
c.2034C>A (p.Phe678Leu)
c.1983C>A (p.Phe661Leu)
c.2088C>A (p.Phe696Leu)
c.1995C>A (p.Phe665Leu)
c.2094C>A (p.Phe698Leu)
c.2124C>A (p.Phe708Leu)
c.2115C>A (p.Phe705Leu)
c.2085C>A (p.Phe695Leu)
c.2028C>A (p.Phe676Leu)
c.1974C>A (p.Phe658Leu)
c.1767C>A (p.Phe589Leu)
c.2181C>A (p.Phe727Leu)
c.2175C>A (p.Phe725Leu)
c.2172C>A (p.Phe724Leu)
c.2232C>A (p.Phe744Leu)
c.2223C>A (p.Phe741Leu)
c.2142C>A (p.Phe714Leu)
c.2091C>A (p.Phe697Leu)
 gnomAD v4
14g.33800380C>GCA389413798NPAS3c.2073C>G (p.Phe691Leu)
c.2082C>G (p.Phe694Leu)
c.1973C>G
c.793+2799C>G
c.1977C>G (p.Phe659Leu)
c.2034C>G (p.Phe678Leu)
c.1983C>G (p.Phe661Leu)
c.2088C>G (p.Phe696Leu)
c.1995C>G (p.Phe665Leu)
c.2094C>G (p.Phe698Leu)
c.2124C>G (p.Phe708Leu)
c.2115C>G (p.Phe705Leu)
c.2085C>G (p.Phe695Leu)
c.2028C>G (p.Phe676Leu)
c.1974C>G (p.Phe658Leu)
c.1767C>G (p.Phe589Leu)
c.2181C>G (p.Phe727Leu)
c.2175C>G (p.Phe725Leu)
c.2172C>G (p.Phe724Leu)
c.2232C>G (p.Phe744Leu)
c.2223C>G (p.Phe741Leu)
c.2142C>G (p.Phe714Leu)
c.2091C>G (p.Phe697Leu)
14g.33800380C>TCA486093073NPAS3c.2073C>T (p.Phe691=)
c.2082C>T (p.Phe694=)
c.1973C>T
c.793+2799C>T
c.1977C>T (p.Phe659=)
c.2034C>T (p.Phe678=)
c.1983C>T (p.Phe661=)
c.2088C>T (p.Phe696=)
c.1995C>T (p.Phe665=)
c.2094C>T (p.Phe698=)
c.2124C>T (p.Phe708=)
c.2115C>T (p.Phe705=)
c.2085C>T (p.Phe695=)
c.2028C>T (p.Phe676=)
c.1974C>T (p.Phe658=)
c.1767C>T (p.Phe589=)
c.2181C>T (p.Phe727=)
c.2175C>T (p.Phe725=)
c.2172C>T (p.Phe724=)
c.2232C>T (p.Phe744=)
c.2223C>T (p.Phe741=)
c.2142C>T (p.Phe714=)
c.2091C>T (p.Phe697=)
 gnomAD v4
14g.33800381C>ACA7150930NPAS3c.2074C>A (p.Pro692Thr)
c.2083C>A (p.Pro695Thr)
c.1974C>A
c.793+2800C>A
c.1978C>A (p.Pro660Thr)
c.2035C>A (p.Pro679Thr)
c.1984C>A (p.Pro662Thr)
c.2089C>A (p.Pro697Thr)
c.1996C>A (p.Pro666Thr)
c.2095C>A (p.Pro699Thr)
c.2125C>A (p.Pro709Thr)
c.2116C>A (p.Pro706Thr)
c.2086C>A (p.Pro696Thr)
c.2029C>A (p.Pro677Thr)
c.1975C>A (p.Pro659Thr)
c.1768C>A (p.Pro590Thr)
c.2182C>A (p.Pro728Thr)
c.2176C>A (p.Pro726Thr)
c.2173C>A (p.Pro725Thr)
c.2233C>A (p.Pro745Thr)
c.2224C>A (p.Pro742Thr)
c.2143C>A (p.Pro715Thr)
c.2092C>A (p.Pro698Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800381C=CA2128327338NPAS3c.2074C= (p.Pro692=)
c.2083C= (p.Pro695=)
c.1974C=
c.793+2800C=
c.1978C= (p.Pro660=)
c.2035C= (p.Pro679=)
c.1984C= (p.Pro662=)
c.2089C= (p.Pro697=)
c.1996C= (p.Pro666=)
c.2095C= (p.Pro699=)
c.2125C= (p.Pro709=)
c.2116C= (p.Pro706=)
c.2086C= (p.Pro696=)
c.2029C= (p.Pro677=)
c.1975C= (p.Pro659=)
c.1768C= (p.Pro590=)
c.2182C= (p.Pro728=)
c.2176C= (p.Pro726=)
c.2173C= (p.Pro725=)
c.2233C= (p.Pro745=)
c.2224C= (p.Pro742=)
c.2143C= (p.Pro715=)
c.2092C= (p.Pro698=)
14g.33800381C>GCA389413801NPAS3c.2074C>G (p.Pro692Ala)
c.2083C>G (p.Pro695Ala)
c.1974C>G
c.793+2800C>G
c.1978C>G (p.Pro660Ala)
c.2035C>G (p.Pro679Ala)
c.1984C>G (p.Pro662Ala)
c.2089C>G (p.Pro697Ala)
c.1996C>G (p.Pro666Ala)
c.2095C>G (p.Pro699Ala)
c.2125C>G (p.Pro709Ala)
c.2116C>G (p.Pro706Ala)
c.2086C>G (p.Pro696Ala)
c.2029C>G (p.Pro677Ala)
c.1975C>G (p.Pro659Ala)
c.1768C>G (p.Pro590Ala)
c.2182C>G (p.Pro728Ala)
c.2176C>G (p.Pro726Ala)
c.2173C>G (p.Pro725Ala)
c.2233C>G (p.Pro745Ala)
c.2224C>G (p.Pro742Ala)
c.2143C>G (p.Pro715Ala)
c.2092C>G (p.Pro698Ala)
 gnomAD v4
14g.33800381C>TCA389413803NPAS3c.2074C>T (p.Pro692Ser)
c.2083C>T (p.Pro695Ser)
c.1974C>T
c.793+2800C>T
c.1978C>T (p.Pro660Ser)
c.2035C>T (p.Pro679Ser)
c.1984C>T (p.Pro662Ser)
c.2089C>T (p.Pro697Ser)
c.1996C>T (p.Pro666Ser)
c.2095C>T (p.Pro699Ser)
c.2125C>T (p.Pro709Ser)
c.2116C>T (p.Pro706Ser)
c.2086C>T (p.Pro696Ser)
c.2029C>T (p.Pro677Ser)
c.1975C>T (p.Pro659Ser)
c.1768C>T (p.Pro590Ser)
c.2182C>T (p.Pro728Ser)
c.2176C>T (p.Pro726Ser)
c.2173C>T (p.Pro725Ser)
c.2233C>T (p.Pro745Ser)
c.2224C>T (p.Pro742Ser)
c.2143C>T (p.Pro715Ser)
c.2092C>T (p.Pro698Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.33800382C>ACA389413805NPAS3c.2075C>A (p.Pro692Gln)
c.2084C>A (p.Pro695Gln)
c.1975C>A
c.793+2801C>A
c.1979C>A (p.Pro660Gln)
c.2036C>A (p.Pro679Gln)
c.1985C>A (p.Pro662Gln)
c.2090C>A (p.Pro697Gln)
c.1997C>A (p.Pro666Gln)
c.2096C>A (p.Pro699Gln)
c.2126C>A (p.Pro709Gln)
c.2117C>A (p.Pro706Gln)
c.2087C>A (p.Pro696Gln)
c.2030C>A (p.Pro677Gln)
c.1976C>A (p.Pro659Gln)
c.1769C>A (p.Pro590Gln)
c.2183C>A (p.Pro728Gln)
c.2177C>A (p.Pro726Gln)
c.2174C>A (p.Pro725Gln)
c.2234C>A (p.Pro745Gln)
c.2225C>A (p.Pro742Gln)
c.2144C>A (p.Pro715Gln)
c.2093C>A (p.Pro698Gln)
14g.33800382C=CA2128327341NPAS3c.2075C= (p.Pro692=)
c.2084C= (p.Pro695=)
c.1975C=
c.793+2801C=
c.1979C= (p.Pro660=)
c.2036C= (p.Pro679=)
c.1985C= (p.Pro662=)
c.2090C= (p.Pro697=)
c.1997C= (p.Pro666=)
c.2096C= (p.Pro699=)
c.2126C= (p.Pro709=)
c.2117C= (p.Pro706=)
c.2087C= (p.Pro696=)
c.2030C= (p.Pro677=)
c.1976C= (p.Pro659=)
c.1769C= (p.Pro590=)
c.2183C= (p.Pro728=)
c.2177C= (p.Pro726=)
c.2174C= (p.Pro725=)
c.2234C= (p.Pro745=)
c.2225C= (p.Pro742=)
c.2144C= (p.Pro715=)
c.2093C= (p.Pro698=)
14g.33800382C>GCA7150932NPAS3c.2075C>G (p.Pro692Arg)
c.2084C>G (p.Pro695Arg)
c.1975C>G
c.793+2801C>G
c.1979C>G (p.Pro660Arg)
c.2036C>G (p.Pro679Arg)
c.1985C>G (p.Pro662Arg)
c.2090C>G (p.Pro697Arg)
c.1997C>G (p.Pro666Arg)
c.2096C>G (p.Pro699Arg)
c.2126C>G (p.Pro709Arg)
c.2117C>G (p.Pro706Arg)
c.2087C>G (p.Pro696Arg)
c.2030C>G (p.Pro677Arg)
c.1976C>G (p.Pro659Arg)
c.1769C>G (p.Pro590Arg)
c.2183C>G (p.Pro728Arg)
c.2177C>G (p.Pro726Arg)
c.2174C>G (p.Pro725Arg)
c.2234C>G (p.Pro745Arg)
c.2225C>G (p.Pro742Arg)
c.2144C>G (p.Pro715Arg)
c.2093C>G (p.Pro698Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800382C>TCA7150931NPAS3c.2075C>T (p.Pro692Leu)
c.2084C>T (p.Pro695Leu)
c.1975C>T
c.793+2801C>T
c.1979C>T (p.Pro660Leu)
c.2036C>T (p.Pro679Leu)
c.1985C>T (p.Pro662Leu)
c.2090C>T (p.Pro697Leu)
c.1997C>T (p.Pro666Leu)
c.2096C>T (p.Pro699Leu)
c.2126C>T (p.Pro709Leu)
c.2117C>T (p.Pro706Leu)
c.2087C>T (p.Pro696Leu)
c.2030C>T (p.Pro677Leu)
c.1976C>T (p.Pro659Leu)
c.1769C>T (p.Pro590Leu)
c.2183C>T (p.Pro728Leu)
c.2177C>T (p.Pro726Leu)
c.2174C>T (p.Pro725Leu)
c.2234C>T (p.Pro745Leu)
c.2225C>T (p.Pro742Leu)
c.2144C>T (p.Pro715Leu)
c.2093C>T (p.Pro698Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800383G>ACA486093074NPAS3c.2076G>A (p.Pro692=)
c.2085G>A (p.Pro695=)
c.1976G>A
c.793+2802G>A
c.1980G>A (p.Pro660=)
c.2037G>A (p.Pro679=)
c.1986G>A (p.Pro662=)
c.2091G>A (p.Pro697=)
c.1998G>A (p.Pro666=)
c.2097G>A (p.Pro699=)
c.2127G>A (p.Pro709=)
c.2118G>A (p.Pro706=)
c.2088G>A (p.Pro696=)
c.2031G>A (p.Pro677=)
c.1977G>A (p.Pro659=)
c.1770G>A (p.Pro590=)
c.2184G>A (p.Pro728=)
c.2178G>A (p.Pro726=)
c.2175G>A (p.Pro725=)
c.2235G>A (p.Pro745=)
c.2226G>A (p.Pro742=)
c.2145G>A (p.Pro715=)
c.2094G>A (p.Pro698=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800383G>CCA486093075NPAS3c.2076G>C (p.Pro692=)
c.2085G>C (p.Pro695=)
c.1976G>C
c.793+2802G>C
c.1980G>C (p.Pro660=)
c.2037G>C (p.Pro679=)
c.1986G>C (p.Pro662=)
c.2091G>C (p.Pro697=)
c.1998G>C (p.Pro666=)
c.2097G>C (p.Pro699=)
c.2127G>C (p.Pro709=)
c.2118G>C (p.Pro706=)
c.2088G>C (p.Pro696=)
c.2031G>C (p.Pro677=)
c.1977G>C (p.Pro659=)
c.1770G>C (p.Pro590=)
c.2184G>C (p.Pro728=)
c.2178G>C (p.Pro726=)
c.2175G>C (p.Pro725=)
c.2235G>C (p.Pro745=)
c.2226G>C (p.Pro742=)
c.2145G>C (p.Pro715=)
c.2094G>C (p.Pro698=)
14g.33800383G=CA2128327346NPAS3c.2076G= (p.Pro692=)
c.2085G= (p.Pro695=)
c.1976G=
c.793+2802G=
c.1980G= (p.Pro660=)
c.2037G= (p.Pro679=)
c.1986G= (p.Pro662=)
c.2091G= (p.Pro697=)
c.1998G= (p.Pro666=)
c.2097G= (p.Pro699=)
c.2127G= (p.Pro709=)
c.2118G= (p.Pro706=)
c.2088G= (p.Pro696=)
c.2031G= (p.Pro677=)
c.1977G= (p.Pro659=)
c.1770G= (p.Pro590=)
c.2184G= (p.Pro728=)
c.2178G= (p.Pro726=)
c.2175G= (p.Pro725=)
c.2235G= (p.Pro745=)
c.2226G= (p.Pro742=)
c.2145G= (p.Pro715=)
c.2094G= (p.Pro698=)
14g.33800383G>TCA486093077NPAS3c.2076G>T (p.Pro692=)
c.2085G>T (p.Pro695=)
c.1976G>T
c.793+2802G>T
c.1980G>T (p.Pro660=)
c.2037G>T (p.Pro679=)
c.1986G>T (p.Pro662=)
c.2091G>T (p.Pro697=)
c.1998G>T (p.Pro666=)
c.2097G>T (p.Pro699=)
c.2127G>T (p.Pro709=)
c.2118G>T (p.Pro706=)
c.2088G>T (p.Pro696=)
c.2031G>T (p.Pro677=)
c.1977G>T (p.Pro659=)
c.1770G>T (p.Pro590=)
c.2184G>T (p.Pro728=)
c.2178G>T (p.Pro726=)
c.2175G>T (p.Pro725=)
c.2235G>T (p.Pro745=)
c.2226G>T (p.Pro742=)
c.2145G>T (p.Pro715=)
c.2094G>T (p.Pro698=)
14g.33800384T>ACA389413814NPAS3c.2077T>A (p.Ser693Thr)
c.2086T>A (p.Ser696Thr)
c.1977T>A
c.793+2803T>A
c.1981T>A (p.Ser661Thr)
c.2038T>A (p.Ser680Thr)
c.1987T>A (p.Ser663Thr)
c.2092T>A (p.Ser698Thr)
c.1999T>A (p.Ser667Thr)
c.2098T>A (p.Ser700Thr)
c.2128T>A (p.Ser710Thr)
c.2119T>A (p.Ser707Thr)
c.2089T>A (p.Ser697Thr)
c.2032T>A (p.Ser678Thr)
c.1978T>A (p.Ser660Thr)
c.1771T>A (p.Ser591Thr)
c.2185T>A (p.Ser729Thr)
c.2179T>A (p.Ser727Thr)
c.2176T>A (p.Ser726Thr)
c.2236T>A (p.Ser746Thr)
c.2227T>A (p.Ser743Thr)
c.2146T>A (p.Ser716Thr)
c.2095T>A (p.Ser699Thr)
 gnomAD v4
14g.33800384T>CCA389413812NPAS3c.2077T>C (p.Ser693Pro)
c.2086T>C (p.Ser696Pro)
c.1977T>C
c.793+2803T>C
c.1981T>C (p.Ser661Pro)
c.2038T>C (p.Ser680Pro)
c.1987T>C (p.Ser663Pro)
c.2092T>C (p.Ser698Pro)
c.1999T>C (p.Ser667Pro)
c.2098T>C (p.Ser700Pro)
c.2128T>C (p.Ser710Pro)
c.2119T>C (p.Ser707Pro)
c.2089T>C (p.Ser697Pro)
c.2032T>C (p.Ser678Pro)
c.1978T>C (p.Ser660Pro)
c.1771T>C (p.Ser591Pro)
c.2185T>C (p.Ser729Pro)
c.2179T>C (p.Ser727Pro)
c.2176T>C (p.Ser726Pro)
c.2236T>C (p.Ser746Pro)
c.2227T>C (p.Ser743Pro)
c.2146T>C (p.Ser716Pro)
c.2095T>C (p.Ser699Pro)
14g.33800384T>GCA389413810NPAS3c.2077T>G (p.Ser693Ala)
c.2086T>G (p.Ser696Ala)
c.1977T>G
c.793+2803T>G
c.1981T>G (p.Ser661Ala)
c.2038T>G (p.Ser680Ala)
c.1987T>G (p.Ser663Ala)
c.2092T>G (p.Ser698Ala)
c.1999T>G (p.Ser667Ala)
c.2098T>G (p.Ser700Ala)
c.2128T>G (p.Ser710Ala)
c.2119T>G (p.Ser707Ala)
c.2089T>G (p.Ser697Ala)
c.2032T>G (p.Ser678Ala)
c.1978T>G (p.Ser660Ala)
c.1771T>G (p.Ser591Ala)
c.2185T>G (p.Ser729Ala)
c.2179T>G (p.Ser727Ala)
c.2176T>G (p.Ser726Ala)
c.2236T>G (p.Ser746Ala)
c.2227T>G (p.Ser743Ala)
c.2146T>G (p.Ser716Ala)
c.2095T>G (p.Ser699Ala)
 gnomAD v3 gnomAD v4
14g.33800385C>ACA389413817NPAS3c.2078C>A (p.Ser693Tyr)
c.2087C>A (p.Ser696Tyr)
c.1978C>A
c.793+2804C>A
c.1982C>A (p.Ser661Tyr)
c.2039C>A (p.Ser680Tyr)
c.1988C>A (p.Ser663Tyr)
c.2093C>A (p.Ser698Tyr)
c.2000C>A (p.Ser667Tyr)
c.2099C>A (p.Ser700Tyr)
c.2129C>A (p.Ser710Tyr)
c.2120C>A (p.Ser707Tyr)
c.2090C>A (p.Ser697Tyr)
c.2033C>A (p.Ser678Tyr)
c.1979C>A (p.Ser660Tyr)
c.1772C>A (p.Ser591Tyr)
c.2186C>A (p.Ser729Tyr)
c.2180C>A (p.Ser727Tyr)
c.2177C>A (p.Ser726Tyr)
c.2237C>A (p.Ser746Tyr)
c.2228C>A (p.Ser743Tyr)
c.2147C>A (p.Ser716Tyr)
c.2096C>A (p.Ser699Tyr)
14g.33800385C=CA2128327352NPAS3c.2078C= (p.Ser693=)
c.2087C= (p.Ser696=)
c.1978C=
c.793+2804C=
c.1982C= (p.Ser661=)
c.2039C= (p.Ser680=)
c.1988C= (p.Ser663=)
c.2093C= (p.Ser698=)
c.2000C= (p.Ser667=)
c.2099C= (p.Ser700=)
c.2129C= (p.Ser710=)
c.2120C= (p.Ser707=)
c.2090C= (p.Ser697=)
c.2033C= (p.Ser678=)
c.1979C= (p.Ser660=)
c.1772C= (p.Ser591=)
c.2186C= (p.Ser729=)
c.2180C= (p.Ser727=)
c.2177C= (p.Ser726=)
c.2237C= (p.Ser746=)
c.2228C= (p.Ser743=)
c.2147C= (p.Ser716=)
c.2096C= (p.Ser699=)
14g.33800385C>GCA389413818NPAS3c.2078C>G (p.Ser693Cys)
c.2087C>G (p.Ser696Cys)
c.1978C>G
c.793+2804C>G
c.1982C>G (p.Ser661Cys)
c.2039C>G (p.Ser680Cys)
c.1988C>G (p.Ser663Cys)
c.2093C>G (p.Ser698Cys)
c.2000C>G (p.Ser667Cys)
c.2099C>G (p.Ser700Cys)
c.2129C>G (p.Ser710Cys)
c.2120C>G (p.Ser707Cys)
c.2090C>G (p.Ser697Cys)
c.2033C>G (p.Ser678Cys)
c.1979C>G (p.Ser660Cys)
c.1772C>G (p.Ser591Cys)
c.2186C>G (p.Ser729Cys)
c.2180C>G (p.Ser727Cys)
c.2177C>G (p.Ser726Cys)
c.2237C>G (p.Ser746Cys)
c.2228C>G (p.Ser743Cys)
c.2147C>G (p.Ser716Cys)
c.2096C>G (p.Ser699Cys)
 COSMIC COSMIC COSMIC
14g.33800385C>TCA389413820NPAS3c.2078C>T (p.Ser693Phe)
c.2087C>T (p.Ser696Phe)
c.1978C>T
c.793+2804C>T
c.1982C>T (p.Ser661Phe)
c.2039C>T (p.Ser680Phe)
c.1988C>T (p.Ser663Phe)
c.2093C>T (p.Ser698Phe)
c.2000C>T (p.Ser667Phe)
c.2099C>T (p.Ser700Phe)
c.2129C>T (p.Ser710Phe)
c.2120C>T (p.Ser707Phe)
c.2090C>T (p.Ser697Phe)
c.2033C>T (p.Ser678Phe)
c.1979C>T (p.Ser660Phe)
c.1772C>T (p.Ser591Phe)
c.2186C>T (p.Ser729Phe)
c.2180C>T (p.Ser727Phe)
c.2177C>T (p.Ser726Phe)
c.2237C>T (p.Ser746Phe)
c.2228C>T (p.Ser743Phe)
c.2147C>T (p.Ser716Phe)
c.2096C>T (p.Ser699Phe)
 dbSNP
14g.33800388delCA2624512031NPAS3c.2081del (p.Pro694ArgfsTer?)
c.2090del (p.Pro697ArgfsTer?)
c.1981del
c.793+2807del
c.1985del (p.Pro662ArgfsTer?)
c.2042del (p.Pro681ArgfsTer?)
c.1991del (p.Pro664ArgfsTer?)
c.2096del (p.Pro699ArgfsTer?)
c.2003del (p.Pro668ArgfsTer?)
c.2102del (p.Pro701ArgfsTer?)
c.2132del (p.Pro711ArgfsTer?)
c.2123del (p.Pro708ArgfsTer?)
c.2093del (p.Pro698ArgfsTer?)
c.2036del (p.Pro679ArgfsTer?)
c.1982del (p.Pro661ArgfsTer?)
c.1775del (p.Pro592ArgfsTer?)
c.2189del (p.Pro730ArgfsTer?)
c.2183del (p.Pro728ArgfsTer?)
c.2180del (p.Pro727ArgfsTer?)
c.2240del (p.Pro747ArgfsTer?)
c.2231del (p.Pro744ArgfsTer?)
c.2150del (p.Pro717ArgfsTer?)
c.2099del (p.Pro700ArgfsTer?)
 gnomAD v4
14g.33800386C>ACA486093080NPAS3c.2079C>A (p.Ser693=)
c.2088C>A (p.Ser696=)
c.1979C>A
c.793+2805C>A
c.1983C>A (p.Ser661=)
c.2040C>A (p.Ser680=)
c.1989C>A (p.Ser663=)
c.2094C>A (p.Ser698=)
c.2001C>A (p.Ser667=)
c.2100C>A (p.Ser700=)
c.2130C>A (p.Ser710=)
c.2121C>A (p.Ser707=)
c.2091C>A (p.Ser697=)
c.2034C>A (p.Ser678=)
c.1980C>A (p.Ser660=)
c.1773C>A (p.Ser591=)
c.2187C>A (p.Ser729=)
c.2181C>A (p.Ser727=)
c.2178C>A (p.Ser726=)
c.2238C>A (p.Ser746=)
c.2229C>A (p.Ser743=)
c.2148C>A (p.Ser716=)
c.2097C>A (p.Ser699=)
14g.33800386C>GCA486093081NPAS3c.2079C>G (p.Ser693=)
c.2088C>G (p.Ser696=)
c.1979C>G
c.793+2805C>G
c.1983C>G (p.Ser661=)
c.2040C>G (p.Ser680=)
c.1989C>G (p.Ser663=)
c.2094C>G (p.Ser698=)
c.2001C>G (p.Ser667=)
c.2100C>G (p.Ser700=)
c.2130C>G (p.Ser710=)
c.2121C>G (p.Ser707=)
c.2091C>G (p.Ser697=)
c.2034C>G (p.Ser678=)
c.1980C>G (p.Ser660=)
c.1773C>G (p.Ser591=)
c.2187C>G (p.Ser729=)
c.2181C>G (p.Ser727=)
c.2178C>G (p.Ser726=)
c.2238C>G (p.Ser746=)
c.2229C>G (p.Ser743=)
c.2148C>G (p.Ser716=)
c.2097C>G (p.Ser699=)
14g.33800386C>TCA486093082NPAS3c.2079C>T (p.Ser693=)
c.2088C>T (p.Ser696=)
c.1979C>T
c.793+2805C>T
c.1983C>T (p.Ser661=)
c.2040C>T (p.Ser680=)
c.1989C>T (p.Ser663=)
c.2094C>T (p.Ser698=)
c.2001C>T (p.Ser667=)
c.2100C>T (p.Ser700=)
c.2130C>T (p.Ser710=)
c.2121C>T (p.Ser707=)
c.2091C>T (p.Ser697=)
c.2034C>T (p.Ser678=)
c.1980C>T (p.Ser660=)
c.1773C>T (p.Ser591=)
c.2187C>T (p.Ser729=)
c.2181C>T (p.Ser727=)
c.2178C>T (p.Ser726=)
c.2238C>T (p.Ser746=)
c.2229C>T (p.Ser743=)
c.2148C>T (p.Ser716=)
c.2097C>T (p.Ser699=)
 COSMIC COSMIC COSMIC
14g.33800387C>ACA389413823NPAS3c.2080C>A (p.Pro694Thr)
c.2089C>A (p.Pro697Thr)
c.1980C>A
c.793+2806C>A
c.1984C>A (p.Pro662Thr)
c.2041C>A (p.Pro681Thr)
c.1990C>A (p.Pro664Thr)
c.2095C>A (p.Pro699Thr)
c.2002C>A (p.Pro668Thr)
c.2101C>A (p.Pro701Thr)
c.2131C>A (p.Pro711Thr)
c.2122C>A (p.Pro708Thr)
c.2092C>A (p.Pro698Thr)
c.2035C>A (p.Pro679Thr)
c.1981C>A (p.Pro661Thr)
c.1774C>A (p.Pro592Thr)
c.2188C>A (p.Pro730Thr)
c.2182C>A (p.Pro728Thr)
c.2179C>A (p.Pro727Thr)
c.2239C>A (p.Pro747Thr)
c.2230C>A (p.Pro744Thr)
c.2149C>A (p.Pro717Thr)
c.2098C>A (p.Pro700Thr)
 gnomAD v4
14g.33800387C>GCA389413825NPAS3c.2080C>G (p.Pro694Ala)
c.2089C>G (p.Pro697Ala)
c.1980C>G
c.793+2806C>G
c.1984C>G (p.Pro662Ala)
c.2041C>G (p.Pro681Ala)
c.1990C>G (p.Pro664Ala)
c.2095C>G (p.Pro699Ala)
c.2002C>G (p.Pro668Ala)
c.2101C>G (p.Pro701Ala)
c.2131C>G (p.Pro711Ala)
c.2122C>G (p.Pro708Ala)
c.2092C>G (p.Pro698Ala)
c.2035C>G (p.Pro679Ala)
c.1981C>G (p.Pro661Ala)
c.1774C>G (p.Pro592Ala)
c.2188C>G (p.Pro730Ala)
c.2182C>G (p.Pro728Ala)
c.2179C>G (p.Pro727Ala)
c.2239C>G (p.Pro747Ala)
c.2230C>G (p.Pro744Ala)
c.2149C>G (p.Pro717Ala)
c.2098C>G (p.Pro700Ala)
 gnomAD v4
14g.33800387C>TCA389413827NPAS3c.2080C>T (p.Pro694Ser)
c.2089C>T (p.Pro697Ser)
c.1980C>T
c.793+2806C>T
c.1984C>T (p.Pro662Ser)
c.2041C>T (p.Pro681Ser)
c.1990C>T (p.Pro664Ser)
c.2095C>T (p.Pro699Ser)
c.2002C>T (p.Pro668Ser)
c.2101C>T (p.Pro701Ser)
c.2131C>T (p.Pro711Ser)
c.2122C>T (p.Pro708Ser)
c.2092C>T (p.Pro698Ser)
c.2035C>T (p.Pro679Ser)
c.1981C>T (p.Pro661Ser)
c.1774C>T (p.Pro592Ser)
c.2188C>T (p.Pro730Ser)
c.2182C>T (p.Pro728Ser)
c.2179C>T (p.Pro727Ser)
c.2239C>T (p.Pro747Ser)
c.2230C>T (p.Pro744Ser)
c.2149C>T (p.Pro717Ser)
c.2098C>T (p.Pro700Ser)
14g.33800388C>ACA389413829NPAS3c.2081C>A (p.Pro694Gln)
c.2090C>A (p.Pro697Gln)
c.1981C>A
c.793+2807C>A
c.1985C>A (p.Pro662Gln)
c.2042C>A (p.Pro681Gln)
c.1991C>A (p.Pro664Gln)
c.2096C>A (p.Pro699Gln)
c.2003C>A (p.Pro668Gln)
c.2102C>A (p.Pro701Gln)
c.2132C>A (p.Pro711Gln)
c.2123C>A (p.Pro708Gln)
c.2093C>A (p.Pro698Gln)
c.2036C>A (p.Pro679Gln)
c.1982C>A (p.Pro661Gln)
c.1775C>A (p.Pro592Gln)
c.2189C>A (p.Pro730Gln)
c.2183C>A (p.Pro728Gln)
c.2180C>A (p.Pro727Gln)
c.2240C>A (p.Pro747Gln)
c.2231C>A (p.Pro744Gln)
c.2150C>A (p.Pro717Gln)
c.2099C>A (p.Pro700Gln)
14g.33800388C>GCA389413830NPAS3c.2081C>G (p.Pro694Arg)
c.2090C>G (p.Pro697Arg)
c.1981C>G
c.793+2807C>G
c.1985C>G (p.Pro662Arg)
c.2042C>G (p.Pro681Arg)
c.1991C>G (p.Pro664Arg)
c.2096C>G (p.Pro699Arg)
c.2003C>G (p.Pro668Arg)
c.2102C>G (p.Pro701Arg)
c.2132C>G (p.Pro711Arg)
c.2123C>G (p.Pro708Arg)
c.2093C>G (p.Pro698Arg)
c.2036C>G (p.Pro679Arg)
c.1982C>G (p.Pro661Arg)
c.1775C>G (p.Pro592Arg)
c.2189C>G (p.Pro730Arg)
c.2183C>G (p.Pro728Arg)
c.2180C>G (p.Pro727Arg)
c.2240C>G (p.Pro747Arg)
c.2231C>G (p.Pro744Arg)
c.2150C>G (p.Pro717Arg)
c.2099C>G (p.Pro700Arg)
14g.33800388C>TCA389413832NPAS3c.2081C>T (p.Pro694Leu)
c.2090C>T (p.Pro697Leu)
c.1981C>T
c.793+2807C>T
c.1985C>T (p.Pro662Leu)
c.2042C>T (p.Pro681Leu)
c.1991C>T (p.Pro664Leu)
c.2096C>T (p.Pro699Leu)
c.2003C>T (p.Pro668Leu)
c.2102C>T (p.Pro701Leu)
c.2132C>T (p.Pro711Leu)
c.2123C>T (p.Pro708Leu)
c.2093C>T (p.Pro698Leu)
c.2036C>T (p.Pro679Leu)
c.1982C>T (p.Pro661Leu)
c.1775C>T (p.Pro592Leu)
c.2189C>T (p.Pro730Leu)
c.2183C>T (p.Pro728Leu)
c.2180C>T (p.Pro727Leu)
c.2240C>T (p.Pro747Leu)
c.2231C>T (p.Pro744Leu)
c.2150C>T (p.Pro717Leu)
c.2099C>T (p.Pro700Leu)
14g.33800389G>ACA486093086NPAS3c.2082G>A (p.Pro694=)
c.2091G>A (p.Pro697=)
c.1982G>A
c.793+2808G>A
c.1986G>A (p.Pro662=)
c.2043G>A (p.Pro681=)
c.1992G>A (p.Pro664=)
c.2097G>A (p.Pro699=)
c.2004G>A (p.Pro668=)
c.2103G>A (p.Pro701=)
c.2133G>A (p.Pro711=)
c.2124G>A (p.Pro708=)
c.2094G>A (p.Pro698=)
c.2037G>A (p.Pro679=)
c.1983G>A (p.Pro661=)
c.1776G>A (p.Pro592=)
c.2190G>A (p.Pro730=)
c.2184G>A (p.Pro728=)
c.2181G>A (p.Pro727=)
c.2241G>A (p.Pro747=)
c.2232G>A (p.Pro744=)
c.2151G>A (p.Pro717=)
c.2100G>A (p.Pro700=)
 gnomAD v4
14g.33800389G>CCA486093087NPAS3c.2082G>C (p.Pro694=)
c.2091G>C (p.Pro697=)
c.1982G>C
c.793+2808G>C
c.1986G>C (p.Pro662=)
c.2043G>C (p.Pro681=)
c.1992G>C (p.Pro664=)
c.2097G>C (p.Pro699=)
c.2004G>C (p.Pro668=)
c.2103G>C (p.Pro701=)
c.2133G>C (p.Pro711=)
c.2124G>C (p.Pro708=)
c.2094G>C (p.Pro698=)
c.2037G>C (p.Pro679=)
c.1983G>C (p.Pro661=)
c.1776G>C (p.Pro592=)
c.2190G>C (p.Pro730=)
c.2184G>C (p.Pro728=)
c.2181G>C (p.Pro727=)
c.2241G>C (p.Pro747=)
c.2232G>C (p.Pro744=)
c.2151G>C (p.Pro717=)
c.2100G>C (p.Pro700=)
14g.33800389G>TCA486093085NPAS3c.2082G>T (p.Pro694=)
c.2091G>T (p.Pro697=)
c.1982G>T
c.793+2808G>T
c.1986G>T (p.Pro662=)
c.2043G>T (p.Pro681=)
c.1992G>T (p.Pro664=)
c.2097G>T (p.Pro699=)
c.2004G>T (p.Pro668=)
c.2103G>T (p.Pro701=)
c.2133G>T (p.Pro711=)
c.2124G>T (p.Pro708=)
c.2094G>T (p.Pro698=)
c.2037G>T (p.Pro679=)
c.1983G>T (p.Pro661=)
c.1776G>T (p.Pro592=)
c.2190G>T (p.Pro730=)
c.2184G>T (p.Pro728=)
c.2181G>T (p.Pro727=)
c.2241G>T (p.Pro747=)
c.2232G>T (p.Pro744=)
c.2151G>T (p.Pro717=)
c.2100G>T (p.Pro700=)
 gnomAD v4
14g.33800389_33800390insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGCCA2513165665NPAS3c.2082_2083insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln695SerfsTer?)
c.2091_2092insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln698SerfsTer?)
c.1982_1983insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC
c.793+2808_793+2809insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC
c.1986_1987insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln663SerfsTer?)
c.2043_2044insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln682SerfsTer?)
c.1992_1993insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln665SerfsTer?)
c.2097_2098insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln700SerfsTer?)
c.2004_2005insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln669SerfsTer?)
c.2103_2104insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln702SerfsTer?)
c.2133_2134insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln712SerfsTer?)
c.2124_2125insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln709SerfsTer?)
c.2094_2095insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln699SerfsTer?)
c.2037_2038insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln680SerfsTer?)
c.1983_1984insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln662SerfsTer?)
c.1776_1777insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln593SerfsTer?)
c.2190_2191insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln731SerfsTer?)
c.2184_2185insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln729SerfsTer?)
c.2181_2182insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln728SerfsTer?)
c.2241_2242insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln748SerfsTer?)
c.2232_2233insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln745SerfsTer?)
c.2151_2152insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln718SerfsTer?)
c.2100_2101insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln701SerfsTer?)
14g.33800390C>ACA389413834NPAS3c.2083C>A (p.Gln695Lys)
c.2092C>A (p.Gln698Lys)
c.1983C>A
c.793+2809C>A
c.1987C>A (p.Gln663Lys)
c.2044C>A (p.Gln682Lys)
c.1993C>A (p.Gln665Lys)
c.2098C>A (p.Gln700Lys)
c.2005C>A (p.Gln669Lys)
c.2104C>A (p.Gln702Lys)
c.2134C>A (p.Gln712Lys)
c.2125C>A (p.Gln709Lys)
c.2095C>A (p.Gln699Lys)
c.2038C>A (p.Gln680Lys)
c.1984C>A (p.Gln662Lys)
c.1777C>A (p.Gln593Lys)
c.2191C>A (p.Gln731Lys)
c.2185C>A (p.Gln729Lys)
c.2182C>A (p.Gln728Lys)
c.2242C>A (p.Gln748Lys)
c.2233C>A (p.Gln745Lys)
c.2152C>A (p.Gln718Lys)
c.2101C>A (p.Gln701Lys)
14g.33800390C>GCA389413835NPAS3c.2083C>G (p.Gln695Glu)
c.2092C>G (p.Gln698Glu)
c.1983C>G
c.793+2809C>G
c.1987C>G (p.Gln663Glu)
c.2044C>G (p.Gln682Glu)
c.1993C>G (p.Gln665Glu)
c.2098C>G (p.Gln700Glu)
c.2005C>G (p.Gln669Glu)
c.2104C>G (p.Gln702Glu)
c.2134C>G (p.Gln712Glu)
c.2125C>G (p.Gln709Glu)
c.2095C>G (p.Gln699Glu)
c.2038C>G (p.Gln680Glu)
c.1984C>G (p.Gln662Glu)
c.1777C>G (p.Gln593Glu)
c.2191C>G (p.Gln731Glu)
c.2185C>G (p.Gln729Glu)
c.2182C>G (p.Gln728Glu)
c.2242C>G (p.Gln748Glu)
c.2233C>G (p.Gln745Glu)
c.2152C>G (p.Gln718Glu)
c.2101C>G (p.Gln701Glu)
14g.33800390C>TCA389413836NPAS3c.2083C>T (p.Gln695Ter)
c.2092C>T (p.Gln698Ter)
c.1983C>T
c.793+2809C>T
c.1987C>T (p.Gln663Ter)
c.2044C>T (p.Gln682Ter)
c.1993C>T (p.Gln665Ter)
c.2098C>T (p.Gln700Ter)
c.2005C>T (p.Gln669Ter)
c.2104C>T (p.Gln702Ter)
c.2134C>T (p.Gln712Ter)
c.2125C>T (p.Gln709Ter)
c.2095C>T (p.Gln699Ter)
c.2038C>T (p.Gln680Ter)
c.1984C>T (p.Gln662Ter)
c.1777C>T (p.Gln593Ter)
c.2191C>T (p.Gln731Ter)
c.2185C>T (p.Gln729Ter)
c.2182C>T (p.Gln728Ter)
c.2242C>T (p.Gln748Ter)
c.2233C>T (p.Gln745Ter)
c.2152C>T (p.Gln718Ter)
c.2101C>T (p.Gln701Ter)
14g.33800391A>CCA389413839NPAS3c.2084A>C (p.Gln695Pro)
c.2093A>C (p.Gln698Pro)
c.1984A>C
c.793+2810A>C
c.1988A>C (p.Gln663Pro)
c.2045A>C (p.Gln682Pro)
c.1994A>C (p.Gln665Pro)
c.2099A>C (p.Gln700Pro)
c.2006A>C (p.Gln669Pro)
c.2105A>C (p.Gln702Pro)
c.2135A>C (p.Gln712Pro)
c.2126A>C (p.Gln709Pro)
c.2096A>C (p.Gln699Pro)
c.2039A>C (p.Gln680Pro)
c.1985A>C (p.Gln662Pro)
c.1778A>C (p.Gln593Pro)
c.2192A>C (p.Gln731Pro)
c.2186A>C (p.Gln729Pro)
c.2183A>C (p.Gln728Pro)
c.2243A>C (p.Gln748Pro)
c.2234A>C (p.Gln745Pro)
c.2153A>C (p.Gln718Pro)
c.2102A>C (p.Gln701Pro)
 gnomAD v4
14g.33800391A>GCA389413843NPAS3c.2084A>G (p.Gln695Arg)
c.2093A>G (p.Gln698Arg)
c.1984A>G
c.793+2810A>G
c.1988A>G (p.Gln663Arg)
c.2045A>G (p.Gln682Arg)
c.1994A>G (p.Gln665Arg)
c.2099A>G (p.Gln700Arg)
c.2006A>G (p.Gln669Arg)
c.2105A>G (p.Gln702Arg)
c.2135A>G (p.Gln712Arg)
c.2126A>G (p.Gln709Arg)
c.2096A>G (p.Gln699Arg)
c.2039A>G (p.Gln680Arg)
c.1985A>G (p.Gln662Arg)
c.1778A>G (p.Gln593Arg)
c.2192A>G (p.Gln731Arg)
c.2186A>G (p.Gln729Arg)
c.2183A>G (p.Gln728Arg)
c.2243A>G (p.Gln748Arg)
c.2234A>G (p.Gln745Arg)
c.2153A>G (p.Gln718Arg)
c.2102A>G (p.Gln701Arg)
14g.33800391A>TCA389413842NPAS3c.2084A>T (p.Gln695Leu)
c.2093A>T (p.Gln698Leu)
c.1984A>T
c.793+2810A>T
c.1988A>T (p.Gln663Leu)
c.2045A>T (p.Gln682Leu)
c.1994A>T (p.Gln665Leu)
c.2099A>T (p.Gln700Leu)
c.2006A>T (p.Gln669Leu)
c.2105A>T (p.Gln702Leu)
c.2135A>T (p.Gln712Leu)
c.2126A>T (p.Gln709Leu)
c.2096A>T (p.Gln699Leu)
c.2039A>T (p.Gln680Leu)
c.1985A>T (p.Gln662Leu)
c.1778A>T (p.Gln593Leu)
c.2192A>T (p.Gln731Leu)
c.2186A>T (p.Gln729Leu)
c.2183A>T (p.Gln728Leu)
c.2243A>T (p.Gln748Leu)
c.2234A>T (p.Gln745Leu)
c.2153A>T (p.Gln718Leu)
c.2102A>T (p.Gln701Leu)
 gnomAD v4
14g.33800392G>ACA486093089NPAS3c.2085G>A (p.Gln695=)
c.2094G>A (p.Gln698=)
c.1985G>A
c.793+2811G>A
c.1989G>A (p.Gln663=)
c.2046G>A (p.Gln682=)
c.1995G>A (p.Gln665=)
c.2100G>A (p.Gln700=)
c.2007G>A (p.Gln669=)
c.2106G>A (p.Gln702=)
c.2136G>A (p.Gln712=)
c.2127G>A (p.Gln709=)
c.2097G>A (p.Gln699=)
c.2040G>A (p.Gln680=)
c.1986G>A (p.Gln662=)
c.1779G>A (p.Gln593=)
c.2193G>A (p.Gln731=)
c.2187G>A (p.Gln729=)
c.2184G>A (p.Gln728=)
c.2244G>A (p.Gln748=)
c.2235G>A (p.Gln745=)
c.2154G>A (p.Gln718=)
c.2103G>A (p.Gln701=)
14g.33800392G>CCA389413846NPAS3c.2085G>C (p.Gln695His)
c.2094G>C (p.Gln698His)
c.1985G>C
c.793+2811G>C
c.1989G>C (p.Gln663His)
c.2046G>C (p.Gln682His)
c.1995G>C (p.Gln665His)
c.2100G>C (p.Gln700His)
c.2007G>C (p.Gln669His)
c.2106G>C (p.Gln702His)
c.2136G>C (p.Gln712His)
c.2127G>C (p.Gln709His)
c.2097G>C (p.Gln699His)
c.2040G>C (p.Gln680His)
c.1986G>C (p.Gln662His)
c.1779G>C (p.Gln593His)
c.2193G>C (p.Gln731His)
c.2187G>C (p.Gln729His)
c.2184G>C (p.Gln728His)
c.2244G>C (p.Gln748His)
c.2235G>C (p.Gln745His)
c.2154G>C (p.Gln718His)
c.2103G>C (p.Gln701His)
14g.33800392G=CA2128327355NPAS3c.2085G= (p.Gln695=)
c.2094G= (p.Gln698=)
c.1985G=
c.793+2811G=
c.1989G= (p.Gln663=)
c.2046G= (p.Gln682=)
c.1995G= (p.Gln665=)
c.2100G= (p.Gln700=)
c.2007G= (p.Gln669=)
c.2106G= (p.Gln702=)
c.2136G= (p.Gln712=)
c.2127G= (p.Gln709=)
c.2097G= (p.Gln699=)
c.2040G= (p.Gln680=)
c.1986G= (p.Gln662=)
c.1779G= (p.Gln593=)
c.2193G= (p.Gln731=)
c.2187G= (p.Gln729=)
c.2184G= (p.Gln728=)
c.2244G= (p.Gln748=)
c.2235G= (p.Gln745=)
c.2154G= (p.Gln718=)
c.2103G= (p.Gln701=)
14g.33800392G>TCA389413848NPAS3c.2085G>T (p.Gln695His)
c.2094G>T (p.Gln698His)
c.1985G>T
c.793+2811G>T
c.1989G>T (p.Gln663His)
c.2046G>T (p.Gln682His)
c.1995G>T (p.Gln665His)
c.2100G>T (p.Gln700His)
c.2007G>T (p.Gln669His)
c.2106G>T (p.Gln702His)
c.2136G>T (p.Gln712His)
c.2127G>T (p.Gln709His)
c.2097G>T (p.Gln699His)
c.2040G>T (p.Gln680His)
c.1986G>T (p.Gln662His)
c.1779G>T (p.Gln593His)
c.2193G>T (p.Gln731His)
c.2187G>T (p.Gln729His)
c.2184G>T (p.Gln728His)
c.2244G>T (p.Gln748His)
c.2235G>T (p.Gln745His)
c.2154G>T (p.Gln718His)
c.2103G>T (p.Gln701His)
 gnomAD v4
14g.33800393G>ACA389413853NPAS3c.2086G>A (p.Gly696Ser)
c.2095G>A (p.Gly699Ser)
c.1986G>A
c.793+2812G>A
c.1990G>A (p.Gly664Ser)
c.2047G>A (p.Gly683Ser)
c.1996G>A (p.Gly666Ser)
c.2101G>A (p.Gly701Ser)
c.2008G>A (p.Gly670Ser)
c.2107G>A (p.Gly703Ser)
c.2137G>A (p.Gly713Ser)
c.2128G>A (p.Gly710Ser)
c.2098G>A (p.Gly700Ser)
c.2041G>A (p.Gly681Ser)
c.1987G>A (p.Gly663Ser)
c.1780G>A (p.Gly594Ser)
c.2194G>A (p.Gly732Ser)
c.2188G>A (p.Gly730Ser)
c.2185G>A (p.Gly729Ser)
c.2245G>A (p.Gly749Ser)
c.2236G>A (p.Gly746Ser)
c.2155G>A (p.Gly719Ser)
c.2104G>A (p.Gly702Ser)
14g.33800393G>CCA389413855NPAS3c.2086G>C (p.Gly696Arg)
c.2095G>C (p.Gly699Arg)
c.1986G>C
c.793+2812G>C
c.1990G>C (p.Gly664Arg)
c.2047G>C (p.Gly683Arg)
c.1996G>C (p.Gly666Arg)
c.2101G>C (p.Gly701Arg)
c.2008G>C (p.Gly670Arg)
c.2107G>C (p.Gly703Arg)
c.2137G>C (p.Gly713Arg)
c.2128G>C (p.Gly710Arg)
c.2098G>C (p.Gly700Arg)
c.2041G>C (p.Gly681Arg)
c.1987G>C (p.Gly663Arg)
c.1780G>C (p.Gly594Arg)
c.2194G>C (p.Gly732Arg)
c.2188G>C (p.Gly730Arg)
c.2185G>C (p.Gly729Arg)
c.2245G>C (p.Gly749Arg)
c.2236G>C (p.Gly746Arg)
c.2155G>C (p.Gly719Arg)
c.2104G>C (p.Gly702Arg)
14g.33800393G>TCA389413852NPAS3c.2086G>T (p.Gly696Cys)
c.2095G>T (p.Gly699Cys)
c.1986G>T
c.793+2812G>T
c.1990G>T (p.Gly664Cys)
c.2047G>T (p.Gly683Cys)
c.1996G>T (p.Gly666Cys)
c.2101G>T (p.Gly701Cys)
c.2008G>T (p.Gly670Cys)
c.2107G>T (p.Gly703Cys)
c.2137G>T (p.Gly713Cys)
c.2128G>T (p.Gly710Cys)
c.2098G>T (p.Gly700Cys)
c.2041G>T (p.Gly681Cys)
c.1987G>T (p.Gly663Cys)
c.1780G>T (p.Gly594Cys)
c.2194G>T (p.Gly732Cys)
c.2188G>T (p.Gly730Cys)
c.2185G>T (p.Gly729Cys)
c.2245G>T (p.Gly749Cys)
c.2236G>T (p.Gly746Cys)
c.2155G>T (p.Gly719Cys)
c.2104G>T (p.Gly702Cys)
14g.33800401_33800403dupCA613803861NPAS3c.2094_2096dup (p.Gly699_Gly700insGly)
c.2103_2105dup (p.Gly702_Gly703insGly)
c.1994_1996dup
c.793+2820_793+2822dup
c.1998_2000dup (p.Gly667_Gly668insGly)
c.2055_2057dup (p.Gly686_Gly687insGly)
c.2004_2006dup (p.Gly669_Gly670insGly)
c.2109_2111dup (p.Gly704_Gly705insGly)
c.2016_2018dup (p.Gly673_Gly674insGly)
c.2115_2117dup (p.Gly706_Gly707insGly)
c.2145_2147dup (p.Gly716_Gly717insGly)
c.2136_2138dup (p.Gly713_Gly714insGly)
c.2106_2108dup (p.Gly703_Gly704insGly)
c.2049_2051dup (p.Gly684_Gly685insGly)
c.1995_1997dup (p.Gly666_Gly667insGly)
c.1788_1790dup (p.Gly597_Gly598insGly)
c.2202_2204dup (p.Gly735_Gly736insGly)
c.2196_2198dup (p.Gly733_Gly734insGly)
c.2193_2195dup (p.Gly732_Gly733insGly)
c.2253_2255dup (p.Gly752_Gly753insGly)
c.2244_2246dup (p.Gly749_Gly750insGly)
c.2163_2165dup (p.Gly722_Gly723insGly)
c.2112_2114dup (p.Gly705_Gly706insGly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800398_33800403dupCA7150933NPAS3c.2091_2096dup (p.Gly699_Gly700insGlyGly)
c.2100_2105dup (p.Gly702_Gly703insGlyGly)
c.1991_1996dup
c.793+2817_793+2822dup
c.1995_2000dup (p.Gly667_Gly668insGlyGly)
c.2052_2057dup (p.Gly686_Gly687insGlyGly)
c.2001_2006dup (p.Gly669_Gly670insGlyGly)
c.2106_2111dup (p.Gly704_Gly705insGlyGly)
c.2013_2018dup (p.Gly673_Gly674insGlyGly)
c.2112_2117dup (p.Gly706_Gly707insGlyGly)
c.2142_2147dup (p.Gly716_Gly717insGlyGly)
c.2133_2138dup (p.Gly713_Gly714insGlyGly)
c.2103_2108dup (p.Gly703_Gly704insGlyGly)
c.2046_2051dup (p.Gly684_Gly685insGlyGly)
c.1992_1997dup (p.Gly666_Gly667insGlyGly)
c.1785_1790dup (p.Gly597_Gly598insGlyGly)
c.2199_2204dup (p.Gly735_Gly736insGlyGly)
c.2193_2198dup (p.Gly733_Gly734insGlyGly)
c.2190_2195dup (p.Gly732_Gly733insGlyGly)
c.2250_2255dup (p.Gly752_Gly753insGlyGly)
c.2241_2246dup (p.Gly749_Gly750insGlyGly)
c.2160_2165dup (p.Gly722_Gly723insGlyGly)
c.2109_2114dup (p.Gly705_Gly706insGlyGly)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800401_33800403delCA613803862NPAS3c.2094_2096del (p.Gly699del)
c.2103_2105del (p.Gly702del)
c.1994_1996del
c.793+2820_793+2822del
c.1998_2000del (p.Gly667del)
c.2055_2057del (p.Gly686del)
c.2004_2006del (p.Gly669del)
c.2109_2111del (p.Gly704del)
c.2016_2018del (p.Gly673del)
c.2115_2117del (p.Gly706del)
c.2145_2147del (p.Gly716del)
c.2136_2138del (p.Gly713del)
c.2106_2108del (p.Gly703del)
c.2049_2051del (p.Gly684del)
c.1995_1997del (p.Gly666del)
c.1788_1790del (p.Gly597del)
c.2202_2204del (p.Gly735del)
c.2196_2198del (p.Gly733del)
c.2193_2195del (p.Gly732del)
c.2253_2255del (p.Gly752del)
c.2244_2246del (p.Gly749del)
c.2163_2165del (p.Gly722del)
c.2112_2114del (p.Gly705del)
 gnomAD v2 gnomAD v4
14g.33800394G>ACA389413861NPAS3c.2087G>A (p.Gly696Asp)
c.2096G>A (p.Gly699Asp)
c.1987G>A
c.793+2813G>A
c.1991G>A (p.Gly664Asp)
c.2048G>A (p.Gly683Asp)
c.1997G>A (p.Gly666Asp)
c.2102G>A (p.Gly701Asp)
c.2009G>A (p.Gly670Asp)
c.2108G>A (p.Gly703Asp)
c.2138G>A (p.Gly713Asp)
c.2129G>A (p.Gly710Asp)
c.2099G>A (p.Gly700Asp)
c.2042G>A (p.Gly681Asp)
c.1988G>A (p.Gly663Asp)
c.1781G>A (p.Gly594Asp)
c.2195G>A (p.Gly732Asp)
c.2189G>A (p.Gly730Asp)
c.2186G>A (p.Gly729Asp)
c.2246G>A (p.Gly749Asp)
c.2237G>A (p.Gly746Asp)
c.2156G>A (p.Gly719Asp)
c.2105G>A (p.Gly702Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800394G>CCA389413857NPAS3c.2087G>C (p.Gly696Ala)
c.2096G>C (p.Gly699Ala)
c.1987G>C
c.793+2813G>C
c.1991G>C (p.Gly664Ala)
c.2048G>C (p.Gly683Ala)
c.1997G>C (p.Gly666Ala)
c.2102G>C (p.Gly701Ala)
c.2009G>C (p.Gly670Ala)
c.2108G>C (p.Gly703Ala)
c.2138G>C (p.Gly713Ala)
c.2129G>C (p.Gly710Ala)
c.2099G>C (p.Gly700Ala)
c.2042G>C (p.Gly681Ala)
c.1988G>C (p.Gly663Ala)
c.1781G>C (p.Gly594Ala)
c.2195G>C (p.Gly732Ala)
c.2189G>C (p.Gly730Ala)
c.2186G>C (p.Gly729Ala)
c.2246G>C (p.Gly749Ala)
c.2237G>C (p.Gly746Ala)
c.2156G>C (p.Gly719Ala)
c.2105G>C (p.Gly702Ala)
14g.33800394G=CA2128327360NPAS3c.2087G= (p.Gly696=)
c.2096G= (p.Gly699=)
c.1987G=
c.793+2813G=
c.1991G= (p.Gly664=)
c.2048G= (p.Gly683=)
c.1997G= (p.Gly666=)
c.2102G= (p.Gly701=)
c.2009G= (p.Gly670=)
c.2108G= (p.Gly703=)
c.2138G= (p.Gly713=)
c.2129G= (p.Gly710=)
c.2099G= (p.Gly700=)
c.2042G= (p.Gly681=)
c.1988G= (p.Gly663=)
c.1781G= (p.Gly594=)
c.2195G= (p.Gly732=)
c.2189G= (p.Gly730=)
c.2186G= (p.Gly729=)
c.2246G= (p.Gly749=)
c.2237G= (p.Gly746=)
c.2156G= (p.Gly719=)
c.2105G= (p.Gly702=)
14g.33800394G>TCA389413859NPAS3c.2087G>T (p.Gly696Val)
c.2096G>T (p.Gly699Val)
c.1987G>T
c.793+2813G>T
c.1991G>T (p.Gly664Val)
c.2048G>T (p.Gly683Val)
c.1997G>T (p.Gly666Val)
c.2102G>T (p.Gly701Val)
c.2009G>T (p.Gly670Val)
c.2108G>T (p.Gly703Val)
c.2138G>T (p.Gly713Val)
c.2129G>T (p.Gly710Val)
c.2099G>T (p.Gly700Val)
c.2042G>T (p.Gly681Val)
c.1988G>T (p.Gly663Val)
c.1781G>T (p.Gly594Val)
c.2195G>T (p.Gly732Val)
c.2189G>T (p.Gly730Val)
c.2186G>T (p.Gly729Val)
c.2246G>T (p.Gly749Val)
c.2237G>T (p.Gly746Val)
c.2156G>T (p.Gly719Val)
c.2105G>T (p.Gly702Val)
14g.33800395C>ACA486093092NPAS3c.2088C>A (p.Gly696=)
c.2097C>A (p.Gly699=)
c.1988C>A
c.793+2814C>A
c.1992C>A (p.Gly664=)
c.2049C>A (p.Gly683=)
c.1998C>A (p.Gly666=)
c.2103C>A (p.Gly701=)
c.2010C>A (p.Gly670=)
c.2109C>A (p.Gly703=)
c.2139C>A (p.Gly713=)
c.2130C>A (p.Gly710=)
c.2100C>A (p.Gly700=)
c.2043C>A (p.Gly681=)
c.1989C>A (p.Gly663=)
c.1782C>A (p.Gly594=)
c.2196C>A (p.Gly732=)
c.2190C>A (p.Gly730=)
c.2187C>A (p.Gly729=)
c.2247C>A (p.Gly749=)
c.2238C>A (p.Gly746=)
c.2157C>A (p.Gly719=)
c.2106C>A (p.Gly702=)
14g.33800395C=CA2128327363NPAS3c.2088C= (p.Gly696=)
c.2097C= (p.Gly699=)
c.1988C=
c.793+2814C=
c.1992C= (p.Gly664=)
c.2049C= (p.Gly683=)
c.1998C= (p.Gly666=)
c.2103C= (p.Gly701=)
c.2010C= (p.Gly670=)
c.2109C= (p.Gly703=)
c.2139C= (p.Gly713=)
c.2130C= (p.Gly710=)
c.2100C= (p.Gly700=)
c.2043C= (p.Gly681=)
c.1989C= (p.Gly663=)
c.1782C= (p.Gly594=)
c.2196C= (p.Gly732=)
c.2190C= (p.Gly730=)
c.2187C= (p.Gly729=)
c.2247C= (p.Gly749=)
c.2238C= (p.Gly746=)
c.2157C= (p.Gly719=)
c.2106C= (p.Gly702=)
14g.33800395C>GCA486093093NPAS3c.2088C>G (p.Gly696=)
c.2097C>G (p.Gly699=)
c.1988C>G
c.793+2814C>G
c.1992C>G (p.Gly664=)
c.2049C>G (p.Gly683=)
c.1998C>G (p.Gly666=)
c.2103C>G (p.Gly701=)
c.2010C>G (p.Gly670=)
c.2109C>G (p.Gly703=)
c.2139C>G (p.Gly713=)
c.2130C>G (p.Gly710=)
c.2100C>G (p.Gly700=)
c.2043C>G (p.Gly681=)
c.1989C>G (p.Gly663=)
c.1782C>G (p.Gly594=)
c.2196C>G (p.Gly732=)
c.2190C>G (p.Gly730=)
c.2187C>G (p.Gly729=)
c.2247C>G (p.Gly749=)
c.2238C>G (p.Gly746=)
c.2157C>G (p.Gly719=)
c.2106C>G (p.Gly702=)
 gnomAD v4
14g.33800395C>TCA7150934NPAS3c.2088C>T (p.Gly696=)
c.2097C>T (p.Gly699=)
c.1988C>T
c.793+2814C>T
c.1992C>T (p.Gly664=)
c.2049C>T (p.Gly683=)
c.1998C>T (p.Gly666=)
c.2103C>T (p.Gly701=)
c.2010C>T (p.Gly670=)
c.2109C>T (p.Gly703=)
c.2139C>T (p.Gly713=)
c.2130C>T (p.Gly710=)
c.2100C>T (p.Gly700=)
c.2043C>T (p.Gly681=)
c.1989C>T (p.Gly663=)
c.1782C>T (p.Gly594=)
c.2196C>T (p.Gly732=)
c.2190C>T (p.Gly730=)
c.2187C>T (p.Gly729=)
c.2247C>T (p.Gly749=)
c.2238C>T (p.Gly746=)
c.2157C>T (p.Gly719=)
c.2106C>T (p.Gly702=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800396G>ACA7150935NPAS3c.2089G>A (p.Gly697Ser)
c.2098G>A (p.Gly700Ser)
c.1989G>A
c.793+2815G>A
c.1993G>A (p.Gly665Ser)
c.2050G>A (p.Gly684Ser)
c.1999G>A (p.Gly667Ser)
c.2104G>A (p.Gly702Ser)
c.2011G>A (p.Gly671Ser)
c.2110G>A (p.Gly704Ser)
c.2140G>A (p.Gly714Ser)
c.2131G>A (p.Gly711Ser)
c.2101G>A (p.Gly701Ser)
c.2044G>A (p.Gly682Ser)
c.1990G>A (p.Gly664Ser)
c.1783G>A (p.Gly595Ser)
c.2197G>A (p.Gly733Ser)
c.2191G>A (p.Gly731Ser)
c.2188G>A (p.Gly730Ser)
c.2248G>A (p.Gly750Ser)
c.2239G>A (p.Gly747Ser)
c.2158G>A (p.Gly720Ser)
c.2107G>A (p.Gly703Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800396G>CCA389413865NPAS3c.2089G>C (p.Gly697Arg)
c.2098G>C (p.Gly700Arg)
c.1989G>C
c.793+2815G>C
c.1993G>C (p.Gly665Arg)
c.2050G>C (p.Gly684Arg)
c.1999G>C (p.Gly667Arg)
c.2104G>C (p.Gly702Arg)
c.2011G>C (p.Gly671Arg)
c.2110G>C (p.Gly704Arg)
c.2140G>C (p.Gly714Arg)
c.2131G>C (p.Gly711Arg)
c.2101G>C (p.Gly701Arg)
c.2044G>C (p.Gly682Arg)
c.1990G>C (p.Gly664Arg)
c.1783G>C (p.Gly595Arg)
c.2197G>C (p.Gly733Arg)
c.2191G>C (p.Gly731Arg)
c.2188G>C (p.Gly730Arg)
c.2248G>C (p.Gly750Arg)
c.2239G>C (p.Gly747Arg)
c.2158G>C (p.Gly720Arg)
c.2107G>C (p.Gly703Arg)
14g.33800396G=CA2128327366NPAS3c.2089G= (p.Gly697=)
c.2098G= (p.Gly700=)
c.1989G=
c.793+2815G=
c.1993G= (p.Gly665=)
c.2050G= (p.Gly684=)
c.1999G= (p.Gly667=)
c.2104G= (p.Gly702=)
c.2011G= (p.Gly671=)
c.2110G= (p.Gly704=)
c.2140G= (p.Gly714=)
c.2131G= (p.Gly711=)
c.2101G= (p.Gly701=)
c.2044G= (p.Gly682=)
c.1990G= (p.Gly664=)
c.1783G= (p.Gly595=)
c.2197G= (p.Gly733=)
c.2191G= (p.Gly731=)
c.2188G= (p.Gly730=)
c.2248G= (p.Gly750=)
c.2239G= (p.Gly747=)
c.2158G= (p.Gly720=)
c.2107G= (p.Gly703=)
14g.33800396G>TCA389413867NPAS3c.2089G>T (p.Gly697Cys)
c.2098G>T (p.Gly700Cys)
c.1989G>T
c.793+2815G>T
c.1993G>T (p.Gly665Cys)
c.2050G>T (p.Gly684Cys)
c.1999G>T (p.Gly667Cys)
c.2104G>T (p.Gly702Cys)
c.2011G>T (p.Gly671Cys)
c.2110G>T (p.Gly704Cys)
c.2140G>T (p.Gly714Cys)
c.2131G>T (p.Gly711Cys)
c.2101G>T (p.Gly701Cys)
c.2044G>T (p.Gly682Cys)
c.1990G>T (p.Gly664Cys)
c.1783G>T (p.Gly595Cys)
c.2197G>T (p.Gly733Cys)
c.2191G>T (p.Gly731Cys)
c.2188G>T (p.Gly730Cys)
c.2248G>T (p.Gly750Cys)
c.2239G>T (p.Gly747Cys)
c.2158G>T (p.Gly720Cys)
c.2107G>T (p.Gly703Cys)
 gnomAD v4
14g.33800397G>ACA389413869NPAS3c.2090G>A (p.Gly697Asp)
c.2099G>A (p.Gly700Asp)
c.1990G>A
c.793+2816G>A
c.1994G>A (p.Gly665Asp)
c.2051G>A (p.Gly684Asp)
c.2000G>A (p.Gly667Asp)
c.2105G>A (p.Gly702Asp)
c.2012G>A (p.Gly671Asp)
c.2111G>A (p.Gly704Asp)
c.2141G>A (p.Gly714Asp)
c.2132G>A (p.Gly711Asp)
c.2102G>A (p.Gly701Asp)
c.2045G>A (p.Gly682Asp)
c.1991G>A (p.Gly664Asp)
c.1784G>A (p.Gly595Asp)
c.2198G>A (p.Gly733Asp)
c.2192G>A (p.Gly731Asp)
c.2189G>A (p.Gly730Asp)
c.2249G>A (p.Gly750Asp)
c.2240G>A (p.Gly747Asp)
c.2159G>A (p.Gly720Asp)
c.2108G>A (p.Gly703Asp)
 dbSNP gnomAD v2 gnomAD v4
14g.33800397G>CCA389413871NPAS3c.2090G>C (p.Gly697Ala)
c.2099G>C (p.Gly700Ala)
c.1990G>C
c.793+2816G>C
c.1994G>C (p.Gly665Ala)
c.2051G>C (p.Gly684Ala)
c.2000G>C (p.Gly667Ala)
c.2105G>C (p.Gly702Ala)
c.2012G>C (p.Gly671Ala)
c.2111G>C (p.Gly704Ala)
c.2141G>C (p.Gly714Ala)
c.2132G>C (p.Gly711Ala)
c.2102G>C (p.Gly701Ala)
c.2045G>C (p.Gly682Ala)
c.1991G>C (p.Gly664Ala)
c.1784G>C (p.Gly595Ala)
c.2198G>C (p.Gly733Ala)
c.2192G>C (p.Gly731Ala)
c.2189G>C (p.Gly730Ala)
c.2249G>C (p.Gly750Ala)
c.2240G>C (p.Gly747Ala)
c.2159G>C (p.Gly720Ala)
c.2108G>C (p.Gly703Ala)
14g.33800397G=CA2128327369NPAS3c.2090G= (p.Gly697=)
c.2099G= (p.Gly700=)
c.1990G=
c.793+2816G=
c.1994G= (p.Gly665=)
c.2051G= (p.Gly684=)
c.2000G= (p.Gly667=)
c.2105G= (p.Gly702=)
c.2012G= (p.Gly671=)
c.2111G= (p.Gly704=)
c.2141G= (p.Gly714=)
c.2132G= (p.Gly711=)
c.2102G= (p.Gly701=)
c.2045G= (p.Gly682=)
c.1991G= (p.Gly664=)
c.1784G= (p.Gly595=)
c.2198G= (p.Gly733=)
c.2192G= (p.Gly731=)
c.2189G= (p.Gly730=)
c.2249G= (p.Gly750=)
c.2240G= (p.Gly747=)
c.2159G= (p.Gly720=)
c.2108G= (p.Gly703=)
14g.33800397G>TCA389413873NPAS3c.2090G>T (p.Gly697Val)
c.2099G>T (p.Gly700Val)
c.1990G>T
c.793+2816G>T
c.1994G>T (p.Gly665Val)
c.2051G>T (p.Gly684Val)
c.2000G>T (p.Gly667Val)
c.2105G>T (p.Gly702Val)
c.2012G>T (p.Gly671Val)
c.2111G>T (p.Gly704Val)
c.2141G>T (p.Gly714Val)
c.2132G>T (p.Gly711Val)
c.2102G>T (p.Gly701Val)
c.2045G>T (p.Gly682Val)
c.1991G>T (p.Gly664Val)
c.1784G>T (p.Gly595Val)
c.2198G>T (p.Gly733Val)
c.2192G>T (p.Gly731Val)
c.2189G>T (p.Gly730Val)
c.2249G>T (p.Gly750Val)
c.2240G>T (p.Gly747Val)
c.2159G>T (p.Gly720Val)
c.2108G>T (p.Gly703Val)
14g.33800398C>ACA486093097NPAS3c.2091C>A (p.Gly697=)
c.2100C>A (p.Gly700=)
c.1991C>A
c.793+2817C>A
c.1995C>A (p.Gly665=)
c.2052C>A (p.Gly684=)
c.2001C>A (p.Gly667=)
c.2106C>A (p.Gly702=)
c.2013C>A (p.Gly671=)
c.2112C>A (p.Gly704=)
c.2142C>A (p.Gly714=)
c.2133C>A (p.Gly711=)
c.2103C>A (p.Gly701=)
c.2046C>A (p.Gly682=)
c.1992C>A (p.Gly664=)
c.1785C>A (p.Gly595=)
c.2199C>A (p.Gly733=)
c.2193C>A (p.Gly731=)
c.2190C>A (p.Gly730=)
c.2250C>A (p.Gly750=)
c.2241C>A (p.Gly747=)
c.2160C>A (p.Gly720=)
c.2109C>A (p.Gly703=)
 gnomAD v4
14g.33800398C=CA2128327372NPAS3c.2091C= (p.Gly697=)
c.2100C= (p.Gly700=)
c.1991C=
c.793+2817C=
c.1995C= (p.Gly665=)
c.2052C= (p.Gly684=)
c.2001C= (p.Gly667=)
c.2106C= (p.Gly702=)
c.2013C= (p.Gly671=)
c.2112C= (p.Gly704=)
c.2142C= (p.Gly714=)
c.2133C= (p.Gly711=)
c.2103C= (p.Gly701=)
c.2046C= (p.Gly682=)
c.1992C= (p.Gly664=)
c.1785C= (p.Gly595=)
c.2199C= (p.Gly733=)
c.2193C= (p.Gly731=)
c.2190C= (p.Gly730=)
c.2250C= (p.Gly750=)
c.2241C= (p.Gly747=)
c.2160C= (p.Gly720=)
c.2109C= (p.Gly703=)
14g.33800398C>GCA486093098NPAS3c.2091C>G (p.Gly697=)
c.2100C>G (p.Gly700=)
c.1991C>G
c.793+2817C>G
c.1995C>G (p.Gly665=)
c.2052C>G (p.Gly684=)
c.2001C>G (p.Gly667=)
c.2106C>G (p.Gly702=)
c.2013C>G (p.Gly671=)
c.2112C>G (p.Gly704=)
c.2142C>G (p.Gly714=)
c.2133C>G (p.Gly711=)
c.2103C>G (p.Gly701=)
c.2046C>G (p.Gly682=)
c.1992C>G (p.Gly664=)
c.1785C>G (p.Gly595=)
c.2199C>G (p.Gly733=)
c.2193C>G (p.Gly731=)
c.2190C>G (p.Gly730=)
c.2250C>G (p.Gly750=)
c.2241C>G (p.Gly747=)
c.2160C>G (p.Gly720=)
c.2109C>G (p.Gly703=)
 gnomAD v4
14g.33800398C>TCA486093099NPAS3c.2091C>T (p.Gly697=)
c.2100C>T (p.Gly700=)
c.1991C>T
c.793+2817C>T
c.1995C>T (p.Gly665=)
c.2052C>T (p.Gly684=)
c.2001C>T (p.Gly667=)
c.2106C>T (p.Gly702=)
c.2013C>T (p.Gly671=)
c.2112C>T (p.Gly704=)
c.2142C>T (p.Gly714=)
c.2133C>T (p.Gly711=)
c.2103C>T (p.Gly701=)
c.2046C>T (p.Gly682=)
c.1992C>T (p.Gly664=)
c.1785C>T (p.Gly595=)
c.2199C>T (p.Gly733=)
c.2193C>T (p.Gly731=)
c.2190C>T (p.Gly730=)
c.2250C>T (p.Gly750=)
c.2241C>T (p.Gly747=)
c.2160C>T (p.Gly720=)
c.2109C>T (p.Gly703=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800399G>ACA389413875NPAS3c.2092G>A (p.Gly698Ser)
c.2101G>A (p.Gly701Ser)
c.1992G>A
c.793+2818G>A
c.1996G>A (p.Gly666Ser)
c.2053G>A (p.Gly685Ser)
c.2002G>A (p.Gly668Ser)
c.2107G>A (p.Gly703Ser)
c.2014G>A (p.Gly672Ser)
c.2113G>A (p.Gly705Ser)
c.2143G>A (p.Gly715Ser)
c.2134G>A (p.Gly712Ser)
c.2104G>A (p.Gly702Ser)
c.2047G>A (p.Gly683Ser)
c.1993G>A (p.Gly665Ser)
c.1786G>A (p.Gly596Ser)
c.2200G>A (p.Gly734Ser)
c.2194G>A (p.Gly732Ser)
c.2191G>A (p.Gly731Ser)
c.2251G>A (p.Gly751Ser)
c.2242G>A (p.Gly748Ser)
c.2161G>A (p.Gly721Ser)
c.2110G>A (p.Gly704Ser)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
14g.33800399G>CCA389413876NPAS3c.2092G>C (p.Gly698Arg)
c.2101G>C (p.Gly701Arg)
c.1992G>C
c.793+2818G>C
c.1996G>C (p.Gly666Arg)
c.2053G>C (p.Gly685Arg)
c.2002G>C (p.Gly668Arg)
c.2107G>C (p.Gly703Arg)
c.2014G>C (p.Gly672Arg)
c.2113G>C (p.Gly705Arg)
c.2143G>C (p.Gly715Arg)
c.2134G>C (p.Gly712Arg)
c.2104G>C (p.Gly702Arg)
c.2047G>C (p.Gly683Arg)
c.1993G>C (p.Gly665Arg)
c.1786G>C (p.Gly596Arg)
c.2200G>C (p.Gly734Arg)
c.2194G>C (p.Gly732Arg)
c.2191G>C (p.Gly731Arg)
c.2251G>C (p.Gly751Arg)
c.2242G>C (p.Gly748Arg)
c.2161G>C (p.Gly721Arg)
c.2110G>C (p.Gly704Arg)
14g.33800399G=CA2128327375NPAS3c.2092G= (p.Gly698=)
c.2101G= (p.Gly701=)
c.1992G=
c.793+2818G=
c.1996G= (p.Gly666=)
c.2053G= (p.Gly685=)
c.2002G= (p.Gly668=)
c.2107G= (p.Gly703=)
c.2014G= (p.Gly672=)
c.2113G= (p.Gly705=)
c.2143G= (p.Gly715=)
c.2134G= (p.Gly712=)
c.2104G= (p.Gly702=)
c.2047G= (p.Gly683=)
c.1993G= (p.Gly665=)
c.1786G= (p.Gly596=)
c.2200G= (p.Gly734=)
c.2194G= (p.Gly732=)
c.2191G= (p.Gly731=)
c.2251G= (p.Gly751=)
c.2242G= (p.Gly748=)
c.2161G= (p.Gly721=)
c.2110G= (p.Gly704=)
14g.33800399G>TCA389413878NPAS3c.2092G>T (p.Gly698Cys)
c.2101G>T (p.Gly701Cys)
c.1992G>T
c.793+2818G>T
c.1996G>T (p.Gly666Cys)
c.2053G>T (p.Gly685Cys)
c.2002G>T (p.Gly668Cys)
c.2107G>T (p.Gly703Cys)
c.2014G>T (p.Gly672Cys)
c.2113G>T (p.Gly705Cys)
c.2143G>T (p.Gly715Cys)
c.2134G>T (p.Gly712Cys)
c.2104G>T (p.Gly702Cys)
c.2047G>T (p.Gly683Cys)
c.1993G>T (p.Gly665Cys)
c.1786G>T (p.Gly596Cys)
c.2200G>T (p.Gly734Cys)
c.2194G>T (p.Gly732Cys)
c.2191G>T (p.Gly731Cys)
c.2251G>T (p.Gly751Cys)
c.2242G>T (p.Gly748Cys)
c.2161G>T (p.Gly721Cys)
c.2110G>T (p.Gly704Cys)
14g.33800400delCA2564778018NPAS3c.2093del (p.Gly698AlafsTer?)
c.2102del (p.Gly701AlafsTer?)
c.1993del
c.793+2819del
c.1997del (p.Gly666AlafsTer?)
c.2054del (p.Gly685AlafsTer?)
c.2003del (p.Gly668AlafsTer?)
c.2108del (p.Gly703AlafsTer?)
c.2015del (p.Gly672AlafsTer?)
c.2114del (p.Gly705AlafsTer?)
c.2144del (p.Gly715AlafsTer?)
c.2135del (p.Gly712AlafsTer?)
c.2105del (p.Gly702AlafsTer?)
c.2048del (p.Gly683AlafsTer?)
c.1994del (p.Gly665AlafsTer?)
c.1787del (p.Gly596AlafsTer?)
c.2201del (p.Gly734AlafsTer?)
c.2195del (p.Gly732AlafsTer?)
c.2192del (p.Gly731AlafsTer?)
c.2252del (p.Gly751AlafsTer?)
c.2243del (p.Gly748AlafsTer?)
c.2162del (p.Gly721AlafsTer?)
c.2111del (p.Gly704AlafsTer?)
14g.33800407_33800418delCA2575504025NPAS3c.2100_2111del (p.Gly701_Gly704del)
c.2109_2120del (p.Gly704_Gly707del)
c.2000_2011del
c.793+2826_793+2837del
c.2004_2015del (p.Gly669_Gly672del)
c.2061_2072del (p.Gly688_Gly691del)
c.2010_2021del (p.Gly671_Gly674del)
c.2115_2126del (p.Gly706_Gly709del)
c.2022_2033del (p.Gly675_Gly678del)
c.2121_2132del (p.Gly708_Gly711del)
c.2151_2162del (p.Gly718_Gly721del)
c.2142_2153del (p.Gly715_Gly718del)
c.2112_2123del (p.Gly705_Gly708del)
c.2055_2066del (p.Gly686_Gly689del)
c.2001_2012del (p.Gly668_Gly671del)
c.1794_1805del (p.Gly599_Gly602del)
c.2208_2219del (p.Gly737_Gly740del)
c.2202_2213del (p.Gly735_Gly738del)
c.2199_2210del (p.Gly734_Gly737del)
c.2259_2270del (p.Gly754_Gly757del)
c.2250_2261del (p.Gly751_Gly754del)
c.2169_2180del (p.Gly724_Gly727del)
c.2118_2129del (p.Gly707_Gly710del)
 gnomAD v4
14g.33800400G>ACA258719101NPAS3c.2093G>A (p.Gly698Asp)
c.2102G>A (p.Gly701Asp)
c.1993G>A
c.793+2819G>A
c.1997G>A (p.Gly666Asp)
c.2054G>A (p.Gly685Asp)
c.2003G>A (p.Gly668Asp)
c.2108G>A (p.Gly703Asp)
c.2015G>A (p.Gly672Asp)
c.2114G>A (p.Gly705Asp)
c.2144G>A (p.Gly715Asp)
c.2135G>A (p.Gly712Asp)
c.2105G>A (p.Gly702Asp)
c.2048G>A (p.Gly683Asp)
c.1994G>A (p.Gly665Asp)
c.1787G>A (p.Gly596Asp)
c.2201G>A (p.Gly734Asp)
c.2195G>A (p.Gly732Asp)
c.2192G>A (p.Gly731Asp)
c.2252G>A (p.Gly751Asp)
c.2243G>A (p.Gly748Asp)
c.2162G>A (p.Gly721Asp)
c.2111G>A (p.Gly704Asp)
 dbSNP gnomAD v4
14g.33800400G>CCA389413883NPAS3c.2093G>C (p.Gly698Ala)
c.2102G>C (p.Gly701Ala)
c.1993G>C
c.793+2819G>C
c.1997G>C (p.Gly666Ala)
c.2054G>C (p.Gly685Ala)
c.2003G>C (p.Gly668Ala)
c.2108G>C (p.Gly703Ala)
c.2015G>C (p.Gly672Ala)
c.2114G>C (p.Gly705Ala)
c.2144G>C (p.Gly715Ala)
c.2135G>C (p.Gly712Ala)
c.2105G>C (p.Gly702Ala)
c.2048G>C (p.Gly683Ala)
c.1994G>C (p.Gly665Ala)
c.1787G>C (p.Gly596Ala)
c.2201G>C (p.Gly734Ala)
c.2195G>C (p.Gly732Ala)
c.2192G>C (p.Gly731Ala)
c.2252G>C (p.Gly751Ala)
c.2243G>C (p.Gly748Ala)
c.2162G>C (p.Gly721Ala)
c.2111G>C (p.Gly704Ala)
14g.33800400G=CA2128327381NPAS3c.2093G= (p.Gly698=)
c.2102G= (p.Gly701=)
c.1993G=
c.793+2819G=
c.1997G= (p.Gly666=)
c.2054G= (p.Gly685=)
c.2003G= (p.Gly668=)
c.2108G= (p.Gly703=)
c.2015G= (p.Gly672=)
c.2114G= (p.Gly705=)
c.2144G= (p.Gly715=)
c.2135G= (p.Gly712=)
c.2105G= (p.Gly702=)
c.2048G= (p.Gly683=)
c.1994G= (p.Gly665=)
c.1787G= (p.Gly596=)
c.2201G= (p.Gly734=)
c.2195G= (p.Gly732=)
c.2192G= (p.Gly731=)
c.2252G= (p.Gly751=)
c.2243G= (p.Gly748=)
c.2162G= (p.Gly721=)
c.2111G= (p.Gly704=)
14g.33800400G>TCA389413881NPAS3c.2093G>T (p.Gly698Val)
c.2102G>T (p.Gly701Val)
c.1993G>T
c.793+2819G>T
c.1997G>T (p.Gly666Val)
c.2054G>T (p.Gly685Val)
c.2003G>T (p.Gly668Val)
c.2108G>T (p.Gly703Val)
c.2015G>T (p.Gly672Val)
c.2114G>T (p.Gly705Val)
c.2144G>T (p.Gly715Val)
c.2135G>T (p.Gly712Val)
c.2105G>T (p.Gly702Val)
c.2048G>T (p.Gly683Val)
c.1994G>T (p.Gly665Val)
c.1787G>T (p.Gly596Val)
c.2201G>T (p.Gly734Val)
c.2195G>T (p.Gly732Val)
c.2192G>T (p.Gly731Val)
c.2252G>T (p.Gly751Val)
c.2243G>T (p.Gly748Val)
c.2162G>T (p.Gly721Val)
c.2111G>T (p.Gly704Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800401C>ACA486093102NPAS3c.2094C>A (p.Gly698=)
c.2103C>A (p.Gly701=)
c.1994C>A
c.793+2820C>A
c.1998C>A (p.Gly666=)
c.2055C>A (p.Gly685=)
c.2004C>A (p.Gly668=)
c.2109C>A (p.Gly703=)
c.2016C>A (p.Gly672=)
c.2115C>A (p.Gly705=)
c.2145C>A (p.Gly715=)
c.2136C>A (p.Gly712=)
c.2106C>A (p.Gly702=)
c.2049C>A (p.Gly683=)
c.1995C>A (p.Gly665=)
c.1788C>A (p.Gly596=)
c.2202C>A (p.Gly734=)
c.2196C>A (p.Gly732=)
c.2193C>A (p.Gly731=)
c.2253C>A (p.Gly751=)
c.2244C>A (p.Gly748=)
c.2163C>A (p.Gly721=)
c.2112C>A (p.Gly704=)
 gnomAD v4
14g.33800401C=CA2128327387NPAS3c.2094C= (p.Gly698=)
c.2103C= (p.Gly701=)
c.1994C=
c.793+2820C=
c.1998C= (p.Gly666=)
c.2055C= (p.Gly685=)
c.2004C= (p.Gly668=)
c.2109C= (p.Gly703=)
c.2016C= (p.Gly672=)
c.2115C= (p.Gly705=)
c.2145C= (p.Gly715=)
c.2136C= (p.Gly712=)
c.2106C= (p.Gly702=)
c.2049C= (p.Gly683=)
c.1995C= (p.Gly665=)
c.1788C= (p.Gly596=)
c.2202C= (p.Gly734=)
c.2196C= (p.Gly732=)
c.2193C= (p.Gly731=)
c.2253C= (p.Gly751=)
c.2244C= (p.Gly748=)
c.2163C= (p.Gly721=)
c.2112C= (p.Gly704=)
14g.33800401C>GCA486093103NPAS3c.2094C>G (p.Gly698=)
c.2103C>G (p.Gly701=)
c.1994C>G
c.793+2820C>G
c.1998C>G (p.Gly666=)
c.2055C>G (p.Gly685=)
c.2004C>G (p.Gly668=)
c.2109C>G (p.Gly703=)
c.2016C>G (p.Gly672=)
c.2115C>G (p.Gly705=)
c.2145C>G (p.Gly715=)
c.2136C>G (p.Gly712=)
c.2106C>G (p.Gly702=)
c.2049C>G (p.Gly683=)
c.1995C>G (p.Gly665=)
c.1788C>G (p.Gly596=)
c.2202C>G (p.Gly734=)
c.2196C>G (p.Gly732=)
c.2193C>G (p.Gly731=)
c.2253C>G (p.Gly751=)
c.2244C>G (p.Gly748=)
c.2163C>G (p.Gly721=)
c.2112C>G (p.Gly704=)
 gnomAD v4
14g.33800401C>TCA7150936NPAS3c.2094C>T (p.Gly698=)
c.2103C>T (p.Gly701=)
c.1994C>T
c.793+2820C>T
c.1998C>T (p.Gly666=)
c.2055C>T (p.Gly685=)
c.2004C>T (p.Gly668=)
c.2109C>T (p.Gly703=)
c.2016C>T (p.Gly672=)
c.2115C>T (p.Gly705=)
c.2145C>T (p.Gly715=)
c.2136C>T (p.Gly712=)
c.2106C>T (p.Gly702=)
c.2049C>T (p.Gly683=)
c.1995C>T (p.Gly665=)
c.1788C>T (p.Gly596=)
c.2202C>T (p.Gly734=)
c.2196C>T (p.Gly732=)
c.2193C>T (p.Gly731=)
c.2253C>T (p.Gly751=)
c.2244C>T (p.Gly748=)
c.2163C>T (p.Gly721=)
c.2112C>T (p.Gly704=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800402G>ACA389413885NPAS3c.2095G>A (p.Gly699Ser)
c.2104G>A (p.Gly702Ser)
c.1995G>A
c.793+2821G>A
c.1999G>A (p.Gly667Ser)
c.2056G>A (p.Gly686Ser)
c.2005G>A (p.Gly669Ser)
c.2110G>A (p.Gly704Ser)
c.2017G>A (p.Gly673Ser)
c.2116G>A (p.Gly706Ser)
c.2146G>A (p.Gly716Ser)
c.2137G>A (p.Gly713Ser)
c.2107G>A (p.Gly703Ser)
c.2050G>A (p.Gly684Ser)
c.1996G>A (p.Gly666Ser)
c.1789G>A (p.Gly597Ser)
c.2203G>A (p.Gly735Ser)
c.2197G>A (p.Gly733Ser)
c.2194G>A (p.Gly732Ser)
c.2254G>A (p.Gly752Ser)
c.2245G>A (p.Gly749Ser)
c.2164G>A (p.Gly722Ser)
c.2113G>A (p.Gly705Ser)
14g.33800402G>CCA389413887NPAS3c.2095G>C (p.Gly699Arg)
c.2104G>C (p.Gly702Arg)
c.1995G>C
c.793+2821G>C
c.1999G>C (p.Gly667Arg)
c.2056G>C (p.Gly686Arg)
c.2005G>C (p.Gly669Arg)
c.2110G>C (p.Gly704Arg)
c.2017G>C (p.Gly673Arg)
c.2116G>C (p.Gly706Arg)
c.2146G>C (p.Gly716Arg)
c.2137G>C (p.Gly713Arg)
c.2107G>C (p.Gly703Arg)
c.2050G>C (p.Gly684Arg)
c.1996G>C (p.Gly666Arg)
c.1789G>C (p.Gly597Arg)
c.2203G>C (p.Gly735Arg)
c.2197G>C (p.Gly733Arg)
c.2194G>C (p.Gly732Arg)
c.2254G>C (p.Gly752Arg)
c.2245G>C (p.Gly749Arg)
c.2164G>C (p.Gly722Arg)
c.2113G>C (p.Gly705Arg)
 gnomAD v4
14g.33800402G=CA2128327392NPAS3c.2095G= (p.Gly699=)
c.2104G= (p.Gly702=)
c.1995G=
c.793+2821G=
c.1999G= (p.Gly667=)
c.2056G= (p.Gly686=)
c.2005G= (p.Gly669=)
c.2110G= (p.Gly704=)
c.2017G= (p.Gly673=)
c.2116G= (p.Gly706=)
c.2146G= (p.Gly716=)
c.2137G= (p.Gly713=)
c.2107G= (p.Gly703=)
c.2050G= (p.Gly684=)
c.1996G= (p.Gly666=)
c.1789G= (p.Gly597=)
c.2203G= (p.Gly735=)
c.2197G= (p.Gly733=)
c.2194G= (p.Gly732=)
c.2254G= (p.Gly752=)
c.2245G= (p.Gly749=)
c.2164G= (p.Gly722=)
c.2113G= (p.Gly705=)
14g.33800402G>TCA389413889NPAS3c.2095G>T (p.Gly699Cys)
c.2104G>T (p.Gly702Cys)
c.1995G>T
c.793+2821G>T
c.1999G>T (p.Gly667Cys)
c.2056G>T (p.Gly686Cys)
c.2005G>T (p.Gly669Cys)
c.2110G>T (p.Gly704Cys)
c.2017G>T (p.Gly673Cys)
c.2116G>T (p.Gly706Cys)
c.2146G>T (p.Gly716Cys)
c.2137G>T (p.Gly713Cys)
c.2107G>T (p.Gly703Cys)
c.2050G>T (p.Gly684Cys)
c.1996G>T (p.Gly666Cys)
c.1789G>T (p.Gly597Cys)
c.2203G>T (p.Gly735Cys)
c.2197G>T (p.Gly733Cys)
c.2194G>T (p.Gly732Cys)
c.2254G>T (p.Gly752Cys)
c.2245G>T (p.Gly749Cys)
c.2164G>T (p.Gly722Cys)
c.2113G>T (p.Gly705Cys)
 dbSNP gnomAD v2 gnomAD v4
14g.33800403dupCA2801126436NPAS3c.2096dup (p.Gly700TrpfsTer?)
c.2105dup (p.Gly703TrpfsTer?)
c.1996dup
c.793+2822dup
c.2000dup (p.Gly668TrpfsTer?)
c.2057dup (p.Gly687TrpfsTer?)
c.2006dup (p.Gly670TrpfsTer?)
c.2111dup (p.Gly705TrpfsTer?)
c.2018dup (p.Gly674TrpfsTer?)
c.2117dup (p.Gly707TrpfsTer?)
c.2147dup (p.Gly717TrpfsTer?)
c.2138dup (p.Gly714TrpfsTer?)
c.2108dup (p.Gly704TrpfsTer?)
c.2051dup (p.Gly685TrpfsTer?)
c.1997dup (p.Gly667TrpfsTer?)
c.1790dup (p.Gly598TrpfsTer?)
c.2204dup (p.Gly736TrpfsTer?)
c.2198dup (p.Gly734TrpfsTer?)
c.2195dup (p.Gly733TrpfsTer?)
c.2255dup (p.Gly753TrpfsTer?)
c.2246dup (p.Gly750TrpfsTer?)
c.2165dup (p.Gly723TrpfsTer?)
c.2114dup (p.Gly706TrpfsTer?)
14g.33800402_33800403dupCA2801126437NPAS3c.2095_2096dup (p.Gly700ValfsTer?)
c.2104_2105dup (p.Gly703ValfsTer?)
c.1995_1996dup
c.793+2821_793+2822dup
c.1999_2000dup (p.Gly668ValfsTer?)
c.2056_2057dup (p.Gly687ValfsTer?)
c.2005_2006dup (p.Gly670ValfsTer?)
c.2110_2111dup (p.Gly705ValfsTer?)
c.2017_2018dup (p.Gly674ValfsTer?)
c.2116_2117dup (p.Gly707ValfsTer?)
c.2146_2147dup (p.Gly717ValfsTer?)
c.2137_2138dup (p.Gly714ValfsTer?)
c.2107_2108dup (p.Gly704ValfsTer?)
c.2050_2051dup (p.Gly685ValfsTer?)
c.1996_1997dup (p.Gly667ValfsTer?)
c.1789_1790dup (p.Gly598ValfsTer?)
c.2203_2204dup (p.Gly736ValfsTer?)
c.2197_2198dup (p.Gly734ValfsTer?)
c.2194_2195dup (p.Gly733ValfsTer?)
c.2254_2255dup (p.Gly753ValfsTer?)
c.2245_2246dup (p.Gly750ValfsTer?)
c.2164_2165dup (p.Gly723ValfsTer?)
c.2113_2114dup (p.Gly706ValfsTer?)
14g.33800407_33800412dupCA7150937NPAS3c.2100_2105dup (p.Gly702_Gly703insGlyGly)
c.2109_2114dup (p.Gly705_Gly706insGlyGly)
c.2000_2005dup
c.793+2826_793+2831dup
c.2004_2009dup (p.Gly670_Gly671insGlyGly)
c.2061_2066dup (p.Gly689_Gly690insGlyGly)
c.2010_2015dup (p.Gly672_Gly673insGlyGly)
c.2115_2120dup (p.Gly707_Gly708insGlyGly)
c.2022_2027dup (p.Gly676_Gly677insGlyGly)
c.2121_2126dup (p.Gly709_Gly710insGlyGly)
c.2151_2156dup (p.Gly719_Gly720insGlyGly)
c.2142_2147dup (p.Gly716_Gly717insGlyGly)
c.2112_2117dup (p.Gly706_Gly707insGlyGly)
c.2055_2060dup (p.Gly687_Gly688insGlyGly)
c.2001_2006dup (p.Gly669_Gly670insGlyGly)
c.1794_1799dup (p.Gly600_Gly601insGlyGly)
c.2208_2213dup (p.Gly738_Gly739insGlyGly)
c.2202_2207dup (p.Gly736_Gly737insGlyGly)
c.2199_2204dup (p.Gly735_Gly736insGlyGly)
c.2259_2264dup (p.Gly755_Gly756insGlyGly)
c.2250_2255dup (p.Gly752_Gly753insGlyGly)
c.2169_2174dup (p.Gly725_Gly726insGlyGly)
c.2118_2123dup (p.Gly708_Gly709insGlyGly)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800407_33800412delCA2624512032NPAS3c.2100_2105del (p.Gly701_Gly702del)
c.2109_2114del (p.Gly704_Gly705del)
c.2000_2005del
c.793+2826_793+2831del
c.2004_2009del (p.Gly669_Gly670del)
c.2061_2066del (p.Gly688_Gly689del)
c.2010_2015del (p.Gly671_Gly672del)
c.2115_2120del (p.Gly706_Gly707del)
c.2022_2027del (p.Gly675_Gly676del)
c.2121_2126del (p.Gly708_Gly709del)
c.2151_2156del (p.Gly718_Gly719del)
c.2142_2147del (p.Gly715_Gly716del)
c.2112_2117del (p.Gly705_Gly706del)
c.2055_2060del (p.Gly686_Gly687del)
c.2001_2006del (p.Gly668_Gly669del)
c.1794_1799del (p.Gly599_Gly600del)
c.2208_2213del (p.Gly737_Gly738del)
c.2202_2207del (p.Gly735_Gly736del)
c.2199_2204del (p.Gly734_Gly735del)
c.2259_2264del (p.Gly754_Gly755del)
c.2250_2255del (p.Gly751_Gly752del)
c.2169_2174del (p.Gly724_Gly725del)
c.2118_2123del (p.Gly707_Gly708del)
 gnomAD v4
14g.33800403G>ACA389413891NPAS3c.2096G>A (p.Gly699Asp)
c.2105G>A (p.Gly702Asp)
c.1996G>A
c.793+2822G>A
c.2000G>A (p.Gly667Asp)
c.2057G>A (p.Gly686Asp)
c.2006G>A (p.Gly669Asp)
c.2111G>A (p.Gly704Asp)
c.2018G>A (p.Gly673Asp)
c.2117G>A (p.Gly706Asp)
c.2147G>A (p.Gly716Asp)
c.2138G>A (p.Gly713Asp)
c.2108G>A (p.Gly703Asp)
c.2051G>A (p.Gly684Asp)
c.1997G>A (p.Gly666Asp)
c.1790G>A (p.Gly597Asp)
c.2204G>A (p.Gly735Asp)
c.2198G>A (p.Gly733Asp)
c.2195G>A (p.Gly732Asp)
c.2255G>A (p.Gly752Asp)
c.2246G>A (p.Gly749Asp)
c.2165G>A (p.Gly722Asp)
c.2114G>A (p.Gly705Asp)
 gnomAD v4
14g.33800403G>CCA389413893NPAS3c.2096G>C (p.Gly699Ala)
c.2105G>C (p.Gly702Ala)
c.1996G>C
c.793+2822G>C
c.2000G>C (p.Gly667Ala)
c.2057G>C (p.Gly686Ala)
c.2006G>C (p.Gly669Ala)
c.2111G>C (p.Gly704Ala)
c.2018G>C (p.Gly673Ala)
c.2117G>C (p.Gly706Ala)
c.2147G>C (p.Gly716Ala)
c.2138G>C (p.Gly713Ala)
c.2108G>C (p.Gly703Ala)
c.2051G>C (p.Gly684Ala)
c.1997G>C (p.Gly666Ala)
c.1790G>C (p.Gly597Ala)
c.2204G>C (p.Gly735Ala)
c.2198G>C (p.Gly733Ala)
c.2195G>C (p.Gly732Ala)
c.2255G>C (p.Gly752Ala)
c.2246G>C (p.Gly749Ala)
c.2165G>C (p.Gly722Ala)
c.2114G>C (p.Gly705Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800403G=CA2128327395NPAS3c.2096G= (p.Gly699=)
c.2105G= (p.Gly702=)
c.1996G=
c.793+2822G=
c.2000G= (p.Gly667=)
c.2057G= (p.Gly686=)
c.2006G= (p.Gly669=)
c.2111G= (p.Gly704=)
c.2018G= (p.Gly673=)
c.2117G= (p.Gly706=)
c.2147G= (p.Gly716=)
c.2138G= (p.Gly713=)
c.2108G= (p.Gly703=)
c.2051G= (p.Gly684=)
c.1997G= (p.Gly666=)
c.1790G= (p.Gly597=)
c.2204G= (p.Gly735=)
c.2198G= (p.Gly733=)
c.2195G= (p.Gly732=)
c.2255G= (p.Gly752=)
c.2246G= (p.Gly749=)
c.2165G= (p.Gly722=)
c.2114G= (p.Gly705=)
14g.33800403G>TCA389413894NPAS3c.2096G>T (p.Gly699Val)
c.2105G>T (p.Gly702Val)
c.1996G>T
c.793+2822G>T
c.2000G>T (p.Gly667Val)
c.2057G>T (p.Gly686Val)
c.2006G>T (p.Gly669Val)
c.2111G>T (p.Gly704Val)
c.2018G>T (p.Gly673Val)
c.2117G>T (p.Gly706Val)
c.2147G>T (p.Gly716Val)
c.2138G>T (p.Gly713Val)
c.2108G>T (p.Gly703Val)
c.2051G>T (p.Gly684Val)
c.1997G>T (p.Gly666Val)
c.1790G>T (p.Gly597Val)
c.2204G>T (p.Gly735Val)
c.2198G>T (p.Gly733Val)
c.2195G>T (p.Gly732Val)
c.2255G>T (p.Gly752Val)
c.2246G>T (p.Gly749Val)
c.2165G>T (p.Gly722Val)
c.2114G>T (p.Gly705Val)
14g.33800404_33800411delCA2521474768NPAS3c.2097_2104del (p.Gly700ArgfsTer?)
c.2106_2113del (p.Gly703ArgfsTer?)
c.1997_2004del
c.793+2823_793+2830del
c.2001_2008del (p.Gly668ArgfsTer?)
c.2058_2065del (p.Gly687ArgfsTer?)
c.2007_2014del (p.Gly670ArgfsTer?)
c.2112_2119del (p.Gly705ArgfsTer?)
c.2019_2026del (p.Gly674ArgfsTer?)
c.2118_2125del (p.Gly707ArgfsTer?)
c.2148_2155del (p.Gly717ArgfsTer?)
c.2139_2146del (p.Gly714ArgfsTer?)
c.2109_2116del (p.Gly704ArgfsTer?)
c.2052_2059del (p.Gly685ArgfsTer?)
c.1998_2005del (p.Gly667ArgfsTer?)
c.1791_1798del (p.Gly598ArgfsTer?)
c.2205_2212del (p.Gly736ArgfsTer?)
c.2199_2206del (p.Gly734ArgfsTer?)
c.2196_2203del (p.Gly733ArgfsTer?)
c.2256_2263del (p.Gly753ArgfsTer?)
c.2247_2254del (p.Gly750ArgfsTer?)
c.2166_2173del (p.Gly723ArgfsTer?)
c.2115_2122del (p.Gly706ArgfsTer?)
14g.33800404delCA2624512033NPAS3c.2097del (p.Gly701ValfsTer?)
c.2106del (p.Gly704ValfsTer?)
c.1997del
c.793+2823del
c.2001del (p.Gly669ValfsTer?)
c.2058del (p.Gly688ValfsTer?)
c.2007del (p.Gly671ValfsTer?)
c.2112del (p.Gly706ValfsTer?)
c.2019del (p.Gly675ValfsTer?)
c.2118del (p.Gly708ValfsTer?)
c.2148del (p.Gly718ValfsTer?)
c.2139del (p.Gly715ValfsTer?)
c.2109del (p.Gly705ValfsTer?)
c.2052del (p.Gly686ValfsTer?)
c.1998del (p.Gly668ValfsTer?)
c.1791del (p.Gly599ValfsTer?)
c.2205del (p.Gly737ValfsTer?)
c.2199del (p.Gly735ValfsTer?)
c.2196del (p.Gly734ValfsTer?)
c.2256del (p.Gly754ValfsTer?)
c.2247del (p.Gly751ValfsTer?)
c.2166del (p.Gly724ValfsTer?)
c.2115del (p.Gly707ValfsTer?)
 gnomAD v4
14g.33800404T>ACA486093107NPAS3c.2097T>A (p.Gly699=)
c.2106T>A (p.Gly702=)
c.1997T>A
c.793+2823T>A
c.2001T>A (p.Gly667=)
c.2058T>A (p.Gly686=)
c.2007T>A (p.Gly669=)
c.2112T>A (p.Gly704=)
c.2019T>A (p.Gly673=)
c.2118T>A (p.Gly706=)
c.2148T>A (p.Gly716=)
c.2139T>A (p.Gly713=)
c.2109T>A (p.Gly703=)
c.2052T>A (p.Gly684=)
c.1998T>A (p.Gly666=)
c.1791T>A (p.Gly597=)
c.2205T>A (p.Gly735=)
c.2199T>A (p.Gly733=)
c.2196T>A (p.Gly732=)
c.2256T>A (p.Gly752=)
c.2247T>A (p.Gly749=)
c.2166T>A (p.Gly722=)
c.2115T>A (p.Gly705=)
14g.33800404T>CCA7150939NPAS3c.2097T>C (p.Gly699=)
c.2106T>C (p.Gly702=)
c.1997T>C
c.793+2823T>C
c.2001T>C (p.Gly667=)
c.2058T>C (p.Gly686=)
c.2007T>C (p.Gly669=)
c.2112T>C (p.Gly704=)
c.2019T>C (p.Gly673=)
c.2118T>C (p.Gly706=)
c.2148T>C (p.Gly716=)
c.2139T>C (p.Gly713=)
c.2109T>C (p.Gly703=)
c.2052T>C (p.Gly684=)
c.1998T>C (p.Gly666=)
c.1791T>C (p.Gly597=)
c.2205T>C (p.Gly735=)
c.2199T>C (p.Gly733=)
c.2196T>C (p.Gly732=)
c.2256T>C (p.Gly752=)
c.2247T>C (p.Gly749=)
c.2166T>C (p.Gly722=)
c.2115T>C (p.Gly705=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800404T>GCA7150938NPAS3c.2097T>G (p.Gly699=)
c.2106T>G (p.Gly702=)
c.1997T>G
c.793+2823T>G
c.2001T>G (p.Gly667=)
c.2058T>G (p.Gly686=)
c.2007T>G (p.Gly669=)
c.2112T>G (p.Gly704=)
c.2019T>G (p.Gly673=)
c.2118T>G (p.Gly706=)
c.2148T>G (p.Gly716=)
c.2139T>G (p.Gly713=)
c.2109T>G (p.Gly703=)
c.2052T>G (p.Gly684=)
c.1998T>G (p.Gly666=)
c.1791T>G (p.Gly597=)
c.2205T>G (p.Gly735=)
c.2199T>G (p.Gly733=)
c.2196T>G (p.Gly732=)
c.2256T>G (p.Gly752=)
c.2247T>G (p.Gly749=)
c.2166T>G (p.Gly722=)
c.2115T>G (p.Gly705=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800404T=CA2128327404NPAS3c.2097T= (p.Gly699=)
c.2106T= (p.Gly702=)
c.1997T=
c.793+2823T=
c.2001T= (p.Gly667=)
c.2058T= (p.Gly686=)
c.2007T= (p.Gly669=)
c.2112T= (p.Gly704=)
c.2019T= (p.Gly673=)
c.2118T= (p.Gly706=)
c.2148T= (p.Gly716=)
c.2139T= (p.Gly713=)
c.2109T= (p.Gly703=)
c.2052T= (p.Gly684=)
c.1998T= (p.Gly666=)
c.1791T= (p.Gly597=)
c.2205T= (p.Gly735=)
c.2199T= (p.Gly733=)
c.2196T= (p.Gly732=)
c.2256T= (p.Gly752=)
c.2247T= (p.Gly749=)
c.2166T= (p.Gly722=)
c.2115T= (p.Gly705=)
14g.33800404_33800422delinsTGGGGGTGGCGGTGGCGGGCA2128327402NPAS3c.2097_2115delinsTGGGGGTGGCGGTGGCGGG (p.Gly699=)
c.2106_2124delinsTGGGGGTGGCGGTGGCGGG (p.Gly702=)
c.1997_2015delinsTGGGGGTGGCGGTGGCGGG
c.793+2823_793+2841delinsTGGGGGTGGCGGTGGCGGG
c.2001_2019delinsTGGGGGTGGCGGTGGCGGG (p.Gly667=)
c.2058_2076delinsTGGGGGTGGCGGTGGCGGG (p.Gly686=)
c.2007_2025delinsTGGGGGTGGCGGTGGCGGG (p.Gly669=)
c.2112_2130delinsTGGGGGTGGCGGTGGCGGG (p.Gly704=)
c.2019_2037delinsTGGGGGTGGCGGTGGCGGG (p.Gly673=)
c.2118_2136delinsTGGGGGTGGCGGTGGCGGG (p.Gly706=)
c.2148_2166delinsTGGGGGTGGCGGTGGCGGG (p.Gly716=)
c.2139_2157delinsTGGGGGTGGCGGTGGCGGG (p.Gly713=)
c.2109_2127delinsTGGGGGTGGCGGTGGCGGG (p.Gly703=)
c.2052_2070delinsTGGGGGTGGCGGTGGCGGG (p.Gly684=)
c.1998_2016delinsTGGGGGTGGCGGTGGCGGG (p.Gly666=)
c.1791_1809delinsTGGGGGTGGCGGTGGCGGG (p.Gly597=)
c.2205_2223delinsTGGGGGTGGCGGTGGCGGG (p.Gly735=)
c.2199_2217delinsTGGGGGTGGCGGTGGCGGG (p.Gly733=)
c.2196_2214delinsTGGGGGTGGCGGTGGCGGG (p.Gly732=)
c.2256_2274delinsTGGGGGTGGCGGTGGCGGG (p.Gly752=)
c.2247_2265delinsTGGGGGTGGCGGTGGCGGG (p.Gly749=)
c.2166_2184delinsTGGGGGTGGCGGTGGCGGG (p.Gly722=)
c.2115_2133delinsTGGGGGTGGCGGTGGCGGG (p.Gly705=)
14g.33800405G>ACA258719120NPAS3c.2098G>A (p.Gly700Arg)
c.2107G>A (p.Gly703Arg)
c.1998G>A
c.793+2824G>A
c.2002G>A (p.Gly668Arg)
c.2059G>A (p.Gly687Arg)
c.2008G>A (p.Gly670Arg)
c.2113G>A (p.Gly705Arg)
c.2020G>A (p.Gly674Arg)
c.2119G>A (p.Gly707Arg)
c.2149G>A (p.Gly717Arg)
c.2140G>A (p.Gly714Arg)
c.2110G>A (p.Gly704Arg)
c.2053G>A (p.Gly685Arg)
c.1999G>A (p.Gly667Arg)
c.1792G>A (p.Gly598Arg)
c.2206G>A (p.Gly736Arg)
c.2200G>A (p.Gly734Arg)
c.2197G>A (p.Gly733Arg)
c.2257G>A (p.Gly753Arg)
c.2248G>A (p.Gly750Arg)
c.2167G>A (p.Gly723Arg)
c.2116G>A (p.Gly706Arg)
 dbSNP gnomAD v2 gnomAD v4
14g.33800405G>CCA389413901NPAS3c.2098G>C (p.Gly700Arg)
c.2107G>C (p.Gly703Arg)
c.1998G>C
c.793+2824G>C
c.2002G>C (p.Gly668Arg)
c.2059G>C (p.Gly687Arg)
c.2008G>C (p.Gly670Arg)
c.2113G>C (p.Gly705Arg)
c.2020G>C (p.Gly674Arg)
c.2119G>C (p.Gly707Arg)
c.2149G>C (p.Gly717Arg)
c.2140G>C (p.Gly714Arg)
c.2110G>C (p.Gly704Arg)
c.2053G>C (p.Gly685Arg)
c.1999G>C (p.Gly667Arg)
c.1792G>C (p.Gly598Arg)
c.2206G>C (p.Gly736Arg)
c.2200G>C (p.Gly734Arg)
c.2197G>C (p.Gly733Arg)
c.2257G>C (p.Gly753Arg)
c.2248G>C (p.Gly750Arg)
c.2167G>C (p.Gly723Arg)
c.2116G>C (p.Gly706Arg)
14g.33800405G=CA2128327411NPAS3c.2098G= (p.Gly700=)
c.2107G= (p.Gly703=)
c.1998G=
c.793+2824G=
c.2002G= (p.Gly668=)
c.2059G= (p.Gly687=)
c.2008G= (p.Gly670=)
c.2113G= (p.Gly705=)
c.2020G= (p.Gly674=)
c.2119G= (p.Gly707=)
c.2149G= (p.Gly717=)
c.2140G= (p.Gly714=)
c.2110G= (p.Gly704=)
c.2053G= (p.Gly685=)
c.1999G= (p.Gly667=)
c.1792G= (p.Gly598=)
c.2206G= (p.Gly736=)
c.2200G= (p.Gly734=)
c.2197G= (p.Gly733=)
c.2257G= (p.Gly753=)
c.2248G= (p.Gly750=)
c.2167G= (p.Gly723=)
c.2116G= (p.Gly706=)
14g.33800405G>TCA389413903NPAS3c.2098G>T (p.Gly700Trp)
c.2107G>T (p.Gly703Trp)
c.1998G>T
c.793+2824G>T
c.2002G>T (p.Gly668Trp)
c.2059G>T (p.Gly687Trp)
c.2008G>T (p.Gly670Trp)
c.2113G>T (p.Gly705Trp)
c.2020G>T (p.Gly674Trp)
c.2119G>T (p.Gly707Trp)
c.2149G>T (p.Gly717Trp)
c.2140G>T (p.Gly714Trp)
c.2110G>T (p.Gly704Trp)
c.2053G>T (p.Gly685Trp)
c.1999G>T (p.Gly667Trp)
c.1792G>T (p.Gly598Trp)
c.2206G>T (p.Gly736Trp)
c.2200G>T (p.Gly734Trp)
c.2197G>T (p.Gly733Trp)
c.2257G>T (p.Gly753Trp)
c.2248G>T (p.Gly750Trp)
c.2167G>T (p.Gly723Trp)
c.2116G>T (p.Gly706Trp)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800409dupCA258719119NPAS3c.2102dup (p.Gly702TrpfsTer?)
c.2111dup (p.Gly705TrpfsTer?)
c.2002dup
c.793+2828dup
c.2006dup (p.Gly670TrpfsTer?)
c.2063dup (p.Gly689TrpfsTer?)
c.2012dup (p.Gly672TrpfsTer?)
c.2117dup (p.Gly707TrpfsTer?)
c.2024dup (p.Gly676TrpfsTer?)
c.2123dup (p.Gly709TrpfsTer?)
c.2153dup (p.Gly719TrpfsTer?)
c.2144dup (p.Gly716TrpfsTer?)
c.2114dup (p.Gly706TrpfsTer?)
c.2057dup (p.Gly687TrpfsTer?)
c.2003dup (p.Gly669TrpfsTer?)
c.1796dup (p.Gly600TrpfsTer?)
c.2210dup (p.Gly738TrpfsTer?)
c.2204dup (p.Gly736TrpfsTer?)
c.2201dup (p.Gly735TrpfsTer?)
c.2261dup (p.Gly755TrpfsTer?)
c.2252dup (p.Gly752TrpfsTer?)
c.2171dup (p.Gly725TrpfsTer?)
c.2120dup (p.Gly708TrpfsTer?)
 dbSNP
14g.33800409delCA2624512034NPAS3c.2102del (p.Gly701ValfsTer?)
c.2111del (p.Gly704ValfsTer?)
c.2002del
c.793+2828del
c.2006del (p.Gly669ValfsTer?)
c.2063del (p.Gly688ValfsTer?)
c.2012del (p.Gly671ValfsTer?)
c.2117del (p.Gly706ValfsTer?)
c.2024del (p.Gly675ValfsTer?)
c.2123del (p.Gly708ValfsTer?)
c.2153del (p.Gly718ValfsTer?)
c.2144del (p.Gly715ValfsTer?)
c.2114del (p.Gly705ValfsTer?)
c.2057del (p.Gly686ValfsTer?)
c.2003del (p.Gly668ValfsTer?)
c.1796del (p.Gly599ValfsTer?)
c.2210del (p.Gly737ValfsTer?)
c.2204del (p.Gly735ValfsTer?)
c.2201del (p.Gly734ValfsTer?)
c.2261del (p.Gly754ValfsTer?)
c.2252del (p.Gly751ValfsTer?)
c.2171del (p.Gly724ValfsTer?)
c.2120del (p.Gly707ValfsTer?)
 gnomAD v4
14g.33800408_33800425delCA961818497NPAS3c.2101_2118del (p.Gly701_Gly706del)
c.2110_2127del (p.Gly704_Gly709del)
c.2001_2018del
c.793+2827_793+2844del
c.2005_2022del (p.Gly669_Gly674del)
c.2062_2079del (p.Gly688_Gly693del)
c.2011_2028del (p.Gly671_Gly676del)
c.2116_2133del (p.Gly706_Gly711del)
c.2023_2040del (p.Gly675_Gly680del)
c.2122_2139del (p.Gly708_Gly713del)
c.2152_2169del (p.Gly718_Gly723del)
c.2143_2160del (p.Gly715_Gly720del)
c.2113_2130del (p.Gly705_Gly710del)
c.2056_2073del (p.Gly686_Gly691del)
c.2002_2019del (p.Gly668_Gly673del)
c.1795_1812del (p.Gly599_Gly604del)
c.2209_2226del (p.Gly737_Gly742del)
c.2203_2220del (p.Gly735_Gly740del)
c.2200_2217del (p.Gly734_Gly739del)
c.2260_2277del (p.Gly754_Gly759del)
c.2251_2268del (p.Gly751_Gly756del)
c.2170_2187del (p.Gly724_Gly729del)
c.2119_2136del (p.Gly707_Gly712del)
 dbSNP gnomAD v3 gnomAD v4
14g.33800406G>ACA389413907NPAS3c.2099G>A (p.Gly700Glu)
c.2108G>A (p.Gly703Glu)
c.1999G>A
c.793+2825G>A
c.2003G>A (p.Gly668Glu)
c.2060G>A (p.Gly687Glu)
c.2009G>A (p.Gly670Glu)
c.2114G>A (p.Gly705Glu)
c.2021G>A (p.Gly674Glu)
c.2120G>A (p.Gly707Glu)
c.2150G>A (p.Gly717Glu)
c.2141G>A (p.Gly714Glu)
c.2111G>A (p.Gly704Glu)
c.2054G>A (p.Gly685Glu)
c.2000G>A (p.Gly667Glu)
c.1793G>A (p.Gly598Glu)
c.2207G>A (p.Gly736Glu)
c.2201G>A (p.Gly734Glu)
c.2198G>A (p.Gly733Glu)
c.2258G>A (p.Gly753Glu)
c.2249G>A (p.Gly750Glu)
c.2168G>A (p.Gly723Glu)
c.2117G>A (p.Gly706Glu)
 gnomAD v4
14g.33800406G>CCA389413909NPAS3c.2099G>C (p.Gly700Ala)
c.2108G>C (p.Gly703Ala)
c.1999G>C
c.793+2825G>C
c.2003G>C (p.Gly668Ala)
c.2060G>C (p.Gly687Ala)
c.2009G>C (p.Gly670Ala)
c.2114G>C (p.Gly705Ala)
c.2021G>C (p.Gly674Ala)
c.2120G>C (p.Gly707Ala)
c.2150G>C (p.Gly717Ala)
c.2141G>C (p.Gly714Ala)
c.2111G>C (p.Gly704Ala)
c.2054G>C (p.Gly685Ala)
c.2000G>C (p.Gly667Ala)
c.1793G>C (p.Gly598Ala)
c.2207G>C (p.Gly736Ala)
c.2201G>C (p.Gly734Ala)
c.2198G>C (p.Gly733Ala)
c.2258G>C (p.Gly753Ala)
c.2249G>C (p.Gly750Ala)
c.2168G>C (p.Gly723Ala)
c.2117G>C (p.Gly706Ala)
 gnomAD v4
14g.33800406G>TCA389413905NPAS3c.2099G>T (p.Gly700Val)
c.2108G>T (p.Gly703Val)
c.1999G>T
c.793+2825G>T
c.2003G>T (p.Gly668Val)
c.2060G>T (p.Gly687Val)
c.2009G>T (p.Gly670Val)
c.2114G>T (p.Gly705Val)
c.2021G>T (p.Gly674Val)
c.2120G>T (p.Gly707Val)
c.2150G>T (p.Gly717Val)
c.2141G>T (p.Gly714Val)
c.2111G>T (p.Gly704Val)
c.2054G>T (p.Gly685Val)
c.2000G>T (p.Gly667Val)
c.1793G>T (p.Gly598Val)
c.2207G>T (p.Gly736Val)
c.2201G>T (p.Gly734Val)
c.2198G>T (p.Gly733Val)
c.2258G>T (p.Gly753Val)
c.2249G>T (p.Gly750Val)
c.2168G>T (p.Gly723Val)
c.2117G>T (p.Gly706Val)
14g.33800407G>ACA486093108NPAS3c.2100G>A (p.Gly700=)
c.2109G>A (p.Gly703=)
c.2000G>A
c.793+2826G>A
c.2004G>A (p.Gly668=)
c.2061G>A (p.Gly687=)
c.2010G>A (p.Gly670=)
c.2115G>A (p.Gly705=)
c.2022G>A (p.Gly674=)
c.2121G>A (p.Gly707=)
c.2151G>A (p.Gly717=)
c.2142G>A (p.Gly714=)
c.2112G>A (p.Gly704=)
c.2055G>A (p.Gly685=)
c.2001G>A (p.Gly667=)
c.1794G>A (p.Gly598=)
c.2208G>A (p.Gly736=)
c.2202G>A (p.Gly734=)
c.2199G>A (p.Gly733=)
c.2259G>A (p.Gly753=)
c.2250G>A (p.Gly750=)
c.2169G>A (p.Gly723=)
c.2118G>A (p.Gly706=)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800407G>CCA486093109NPAS3c.2100G>C (p.Gly700=)
c.2109G>C (p.Gly703=)
c.2000G>C
c.793+2826G>C
c.2004G>C (p.Gly668=)
c.2061G>C (p.Gly687=)
c.2010G>C (p.Gly670=)
c.2115G>C (p.Gly705=)
c.2022G>C (p.Gly674=)
c.2121G>C (p.Gly707=)
c.2151G>C (p.Gly717=)
c.2142G>C (p.Gly714=)
c.2112G>C (p.Gly704=)
c.2055G>C (p.Gly685=)
c.2001G>C (p.Gly667=)
c.1794G>C (p.Gly598=)
c.2208G>C (p.Gly736=)
c.2202G>C (p.Gly734=)
c.2199G>C (p.Gly733=)
c.2259G>C (p.Gly753=)
c.2250G>C (p.Gly750=)
c.2169G>C (p.Gly723=)
c.2118G>C (p.Gly706=)
14g.33800407G>TCA486093110NPAS3c.2100G>T (p.Gly700=)
c.2109G>T (p.Gly703=)
c.2000G>T
c.793+2826G>T
c.2004G>T (p.Gly668=)
c.2061G>T (p.Gly687=)
c.2010G>T (p.Gly670=)
c.2115G>T (p.Gly705=)
c.2022G>T (p.Gly674=)
c.2121G>T (p.Gly707=)
c.2151G>T (p.Gly717=)
c.2142G>T (p.Gly714=)
c.2112G>T (p.Gly704=)
c.2055G>T (p.Gly685=)
c.2001G>T (p.Gly667=)
c.1794G>T (p.Gly598=)
c.2208G>T (p.Gly736=)
c.2202G>T (p.Gly734=)
c.2199G>T (p.Gly733=)
c.2259G>T (p.Gly753=)
c.2250G>T (p.Gly750=)
c.2169G>T (p.Gly723=)
c.2118G>T (p.Gly706=)
 gnomAD v4
14g.33800407_33800413delinsGGGTGGCCA2128327415NPAS3c.2100_2106delinsGGGTGGC (p.Gly700=)
c.2109_2115delinsGGGTGGC (p.Gly703=)
c.2000_2006delinsGGGTGGC
c.793+2826_793+2832delinsGGGTGGC
c.2004_2010delinsGGGTGGC (p.Gly668=)
c.2061_2067delinsGGGTGGC (p.Gly687=)
c.2010_2016delinsGGGTGGC (p.Gly670=)
c.2115_2121delinsGGGTGGC (p.Gly705=)
c.2022_2028delinsGGGTGGC (p.Gly674=)
c.2121_2127delinsGGGTGGC (p.Gly707=)
c.2151_2157delinsGGGTGGC (p.Gly717=)
c.2142_2148delinsGGGTGGC (p.Gly714=)
c.2112_2118delinsGGGTGGC (p.Gly704=)
c.2055_2061delinsGGGTGGC (p.Gly685=)
c.2001_2007delinsGGGTGGC (p.Gly667=)
c.1794_1800delinsGGGTGGC (p.Gly598=)
c.2208_2214delinsGGGTGGC (p.Gly736=)
c.2202_2208delinsGGGTGGC (p.Gly734=)
c.2199_2205delinsGGGTGGC (p.Gly733=)
c.2259_2265delinsGGGTGGC (p.Gly753=)
c.2250_2256delinsGGGTGGC (p.Gly750=)
c.2169_2175delinsGGGTGGC (p.Gly723=)
c.2118_2124delinsGGGTGGC (p.Gly706=)
14g.33800408G>ACA7150941NPAS3c.2101G>A (p.Gly701Ser)
c.2110G>A (p.Gly704Ser)
c.2001G>A
c.793+2827G>A
c.2005G>A (p.Gly669Ser)
c.2062G>A (p.Gly688Ser)
c.2011G>A (p.Gly671Ser)
c.2116G>A (p.Gly706Ser)
c.2023G>A (p.Gly675Ser)
c.2122G>A (p.Gly708Ser)
c.2152G>A (p.Gly718Ser)
c.2143G>A (p.Gly715Ser)
c.2113G>A (p.Gly705Ser)
c.2056G>A (p.Gly686Ser)
c.2002G>A (p.Gly668Ser)
c.1795G>A (p.Gly599Ser)
c.2209G>A (p.Gly737Ser)
c.2203G>A (p.Gly735Ser)
c.2200G>A (p.Gly734Ser)
c.2260G>A (p.Gly754Ser)
c.2251G>A (p.Gly751Ser)
c.2170G>A (p.Gly724Ser)
c.2119G>A (p.Gly707Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800408G>CCA389413913NPAS3c.2101G>C (p.Gly701Arg)
c.2110G>C (p.Gly704Arg)
c.2001G>C
c.793+2827G>C
c.2005G>C (p.Gly669Arg)
c.2062G>C (p.Gly688Arg)
c.2011G>C (p.Gly671Arg)
c.2116G>C (p.Gly706Arg)
c.2023G>C (p.Gly675Arg)
c.2122G>C (p.Gly708Arg)
c.2152G>C (p.Gly718Arg)
c.2143G>C (p.Gly715Arg)
c.2113G>C (p.Gly705Arg)
c.2056G>C (p.Gly686Arg)
c.2002G>C (p.Gly668Arg)
c.1795G>C (p.Gly599Arg)
c.2209G>C (p.Gly737Arg)
c.2203G>C (p.Gly735Arg)
c.2200G>C (p.Gly734Arg)
c.2260G>C (p.Gly754Arg)
c.2251G>C (p.Gly751Arg)
c.2170G>C (p.Gly724Arg)
c.2119G>C (p.Gly707Arg)
 COSMIC COSMIC
14g.33800408G=CA2128327419NPAS3c.2101G= (p.Gly701=)
c.2110G= (p.Gly704=)
c.2001G=
c.793+2827G=
c.2005G= (p.Gly669=)
c.2062G= (p.Gly688=)
c.2011G= (p.Gly671=)
c.2116G= (p.Gly706=)
c.2023G= (p.Gly675=)
c.2122G= (p.Gly708=)
c.2152G= (p.Gly718=)
c.2143G= (p.Gly715=)
c.2113G= (p.Gly705=)
c.2056G= (p.Gly686=)
c.2002G= (p.Gly668=)
c.1795G= (p.Gly599=)
c.2209G= (p.Gly737=)
c.2203G= (p.Gly735=)
c.2200G= (p.Gly734=)
c.2260G= (p.Gly754=)
c.2251G= (p.Gly751=)
c.2170G= (p.Gly724=)
c.2119G= (p.Gly707=)
14g.33800408G>TCA389413915NPAS3c.2101G>T (p.Gly701Cys)
c.2110G>T (p.Gly704Cys)
c.2001G>T
c.793+2827G>T
c.2005G>T (p.Gly669Cys)
c.2062G>T (p.Gly688Cys)
c.2011G>T (p.Gly671Cys)
c.2116G>T (p.Gly706Cys)
c.2023G>T (p.Gly675Cys)
c.2122G>T (p.Gly708Cys)
c.2152G>T (p.Gly718Cys)
c.2143G>T (p.Gly715Cys)
c.2113G>T (p.Gly705Cys)
c.2056G>T (p.Gly686Cys)
c.2002G>T (p.Gly668Cys)
c.1795G>T (p.Gly599Cys)
c.2209G>T (p.Gly737Cys)
c.2203G>T (p.Gly735Cys)
c.2200G>T (p.Gly734Cys)
c.2260G>T (p.Gly754Cys)
c.2251G>T (p.Gly751Cys)
c.2170G>T (p.Gly724Cys)
c.2119G>T (p.Gly707Cys)
 gnomAD v4
14g.33800416_33800421dupCA7150940NPAS3c.2109_2114dup (p.Gly705_Gly706insGlyGly)
c.2118_2123dup (p.Gly708_Gly709insGlyGly)
c.2009_2014dup
c.793+2835_793+2840dup
c.2013_2018dup (p.Gly673_Gly674insGlyGly)
c.2070_2075dup (p.Gly692_Gly693insGlyGly)
c.2019_2024dup (p.Gly675_Gly676insGlyGly)
c.2124_2129dup (p.Gly710_Gly711insGlyGly)
c.2031_2036dup (p.Gly679_Gly680insGlyGly)
c.2130_2135dup (p.Gly712_Gly713insGlyGly)
c.2160_2165dup (p.Gly722_Gly723insGlyGly)
c.2151_2156dup (p.Gly719_Gly720insGlyGly)
c.2121_2126dup (p.Gly709_Gly710insGlyGly)
c.2064_2069dup (p.Gly690_Gly691insGlyGly)
c.2010_2015dup (p.Gly672_Gly673insGlyGly)
c.1803_1808dup (p.Gly603_Gly604insGlyGly)
c.2217_2222dup (p.Gly741_Gly742insGlyGly)
c.2211_2216dup (p.Gly739_Gly740insGlyGly)
c.2208_2213dup (p.Gly738_Gly739insGlyGly)
c.2268_2273dup (p.Gly758_Gly759insGlyGly)
c.2259_2264dup (p.Gly755_Gly756insGlyGly)
c.2178_2183dup (p.Gly728_Gly729insGlyGly)
c.2127_2132dup (p.Gly711_Gly712insGlyGly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800416_33800421delCA613803863NPAS3c.2109_2114del (p.Gly704_Gly705del)
c.2118_2123del (p.Gly707_Gly708del)
c.2009_2014del
c.793+2835_793+2840del
c.2013_2018del (p.Gly672_Gly673del)
c.2070_2075del (p.Gly691_Gly692del)
c.2019_2024del (p.Gly674_Gly675del)
c.2124_2129del (p.Gly709_Gly710del)
c.2031_2036del (p.Gly678_Gly679del)
c.2130_2135del (p.Gly711_Gly712del)
c.2160_2165del (p.Gly721_Gly722del)
c.2151_2156del (p.Gly718_Gly719del)
c.2121_2126del (p.Gly708_Gly709del)
c.2064_2069del (p.Gly689_Gly690del)
c.2010_2015del (p.Gly671_Gly672del)
c.1803_1808del (p.Gly602_Gly603del)
c.2217_2222del (p.Gly740_Gly741del)
c.2211_2216del (p.Gly738_Gly739del)
c.2208_2213del (p.Gly737_Gly738del)
c.2268_2273del (p.Gly757_Gly758del)
c.2259_2264del (p.Gly754_Gly755del)
c.2178_2183del (p.Gly727_Gly728del)
c.2127_2132del (p.Gly710_Gly711del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800408_33800431delinsGGTGGCGGTGGCGGGGGGCTGCACCA2128327418NPAS3c.2101_2124delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly701=)
c.2110_2133delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly704=)
c.2001_2024delinsGGTGGCGGTGGCGGGGGGCTGCAC
c.793+2827_793+2850delinsGGTGGCGGTGGCGGGGGGCTGCAC
c.2005_2028delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly669=)
c.2062_2085delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly688=)
c.2011_2034delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly671=)
c.2116_2139delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly706=)
c.2023_2046delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly675=)
c.2122_2145delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly708=)
c.2152_2175delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly718=)
c.2143_2166delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly715=)
c.2113_2136delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly705=)
c.2056_2079delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly686=)
c.2002_2025delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly668=)
c.1795_1818delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly599=)
c.2209_2232delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly737=)
c.2203_2226delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly735=)
c.2200_2223delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly734=)
c.2260_2283delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly754=)
c.2251_2274delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly751=)
c.2170_2193delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly724=)
c.2119_2142delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly707=)
14g.33800409G>ACA7150942NPAS3c.2102G>A (p.Gly701Asp)
c.2111G>A (p.Gly704Asp)
c.2002G>A
c.793+2828G>A
c.2006G>A (p.Gly669Asp)
c.2063G>A (p.Gly688Asp)
c.2012G>A (p.Gly671Asp)
c.2117G>A (p.Gly706Asp)
c.2024G>A (p.Gly675Asp)
c.2123G>A (p.Gly708Asp)
c.2153G>A (p.Gly718Asp)
c.2144G>A (p.Gly715Asp)
c.2114G>A (p.Gly705Asp)
c.2057G>A (p.Gly686Asp)
c.2003G>A (p.Gly668Asp)
c.1796G>A (p.Gly599Asp)
c.2210G>A (p.Gly737Asp)
c.2204G>A (p.Gly735Asp)
c.2201G>A (p.Gly734Asp)
c.2261G>A (p.Gly754Asp)
c.2252G>A (p.Gly751Asp)
c.2171G>A (p.Gly724Asp)
c.2120G>A (p.Gly707Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800409G>CCA389413918NPAS3c.2102G>C (p.Gly701Ala)
c.2111G>C (p.Gly704Ala)
c.2002G>C
c.793+2828G>C
c.2006G>C (p.Gly669Ala)
c.2063G>C (p.Gly688Ala)
c.2012G>C (p.Gly671Ala)
c.2117G>C (p.Gly706Ala)
c.2024G>C (p.Gly675Ala)
c.2123G>C (p.Gly708Ala)
c.2153G>C (p.Gly718Ala)
c.2144G>C (p.Gly715Ala)
c.2114G>C (p.Gly705Ala)
c.2057G>C (p.Gly686Ala)
c.2003G>C (p.Gly668Ala)
c.1796G>C (p.Gly599Ala)
c.2210G>C (p.Gly737Ala)
c.2204G>C (p.Gly735Ala)
c.2201G>C (p.Gly734Ala)
c.2261G>C (p.Gly754Ala)
c.2252G>C (p.Gly751Ala)
c.2171G>C (p.Gly724Ala)
c.2120G>C (p.Gly707Ala)
14g.33800409G=CA2128327423NPAS3c.2102G= (p.Gly701=)
c.2111G= (p.Gly704=)
c.2002G=
c.793+2828G=
c.2006G= (p.Gly669=)
c.2063G= (p.Gly688=)
c.2012G= (p.Gly671=)
c.2117G= (p.Gly706=)
c.2024G= (p.Gly675=)
c.2123G= (p.Gly708=)
c.2153G= (p.Gly718=)
c.2144G= (p.Gly715=)
c.2114G= (p.Gly705=)
c.2057G= (p.Gly686=)
c.2003G= (p.Gly668=)
c.1796G= (p.Gly599=)
c.2210G= (p.Gly737=)
c.2204G= (p.Gly735=)
c.2201G= (p.Gly734=)
c.2261G= (p.Gly754=)
c.2252G= (p.Gly751=)
c.2171G= (p.Gly724=)
c.2120G= (p.Gly707=)
14g.33800409G>TCA389413920NPAS3c.2102G>T (p.Gly701Val)
c.2111G>T (p.Gly704Val)
c.2002G>T
c.793+2828G>T
c.2006G>T (p.Gly669Val)
c.2063G>T (p.Gly688Val)
c.2012G>T (p.Gly671Val)
c.2117G>T (p.Gly706Val)
c.2024G>T (p.Gly675Val)
c.2123G>T (p.Gly708Val)
c.2153G>T (p.Gly718Val)
c.2144G>T (p.Gly715Val)
c.2114G>T (p.Gly705Val)
c.2057G>T (p.Gly686Val)
c.2003G>T (p.Gly668Val)
c.1796G>T (p.Gly599Val)
c.2210G>T (p.Gly737Val)
c.2204G>T (p.Gly735Val)
c.2201G>T (p.Gly734Val)
c.2261G>T (p.Gly754Val)
c.2252G>T (p.Gly751Val)
c.2171G>T (p.Gly724Val)
c.2120G>T (p.Gly707Val)
14g.33800414_33800436delCA961818523NPAS3c.2107_2129del (p.Gly703HisfsTer?)
c.2116_2138del (p.Gly706HisfsTer?)
c.2007_2029del
c.793+2833_793+2855del
c.2011_2033del (p.Gly671HisfsTer?)
c.2068_2090del (p.Gly690HisfsTer?)
c.2017_2039del (p.Gly673HisfsTer?)
c.2122_2144del (p.Gly708HisfsTer?)
c.2029_2051del (p.Gly677HisfsTer?)
c.2128_2150del (p.Gly710HisfsTer?)
c.2158_2180del (p.Gly720HisfsTer?)
c.2149_2171del (p.Gly717HisfsTer?)
c.2119_2141del (p.Gly707HisfsTer?)
c.2062_2084del (p.Gly688HisfsTer?)
c.2008_2030del (p.Gly670HisfsTer?)
c.1801_1823del (p.Gly601HisfsTer?)
c.2215_2237del (p.Gly739HisfsTer?)
c.2209_2231del (p.Gly737HisfsTer?)
c.2206_2228del (p.Gly736HisfsTer?)
c.2266_2288del (p.Gly756HisfsTer?)
c.2257_2279del (p.Gly753HisfsTer?)
c.2176_2198del (p.Gly726HisfsTer?)
c.2125_2147del (p.Gly709HisfsTer?)
 dbSNP gnomAD v3 gnomAD v4
14g.33800410T>ACA486093112NPAS3c.2103T>A (p.Gly701=)
c.2112T>A (p.Gly704=)
c.2003T>A
c.793+2829T>A
c.2007T>A (p.Gly669=)
c.2064T>A (p.Gly688=)
c.2013T>A (p.Gly671=)
c.2118T>A (p.Gly706=)
c.2025T>A (p.Gly675=)
c.2124T>A (p.Gly708=)
c.2154T>A (p.Gly718=)
c.2145T>A (p.Gly715=)
c.2115T>A (p.Gly705=)
c.2058T>A (p.Gly686=)
c.2004T>A (p.Gly668=)
c.1797T>A (p.Gly599=)
c.2211T>A (p.Gly737=)
c.2205T>A (p.Gly735=)
c.2202T>A (p.Gly734=)
c.2262T>A (p.Gly754=)
c.2253T>A (p.Gly751=)
c.2172T>A (p.Gly724=)
c.2121T>A (p.Gly707=)
14g.33800410T>CCA486093113NPAS3c.2103T>C (p.Gly701=)
c.2112T>C (p.Gly704=)
c.2003T>C
c.793+2829T>C
c.2007T>C (p.Gly669=)
c.2064T>C (p.Gly688=)
c.2013T>C (p.Gly671=)
c.2118T>C (p.Gly706=)
c.2025T>C (p.Gly675=)
c.2124T>C (p.Gly708=)
c.2154T>C (p.Gly718=)
c.2145T>C (p.Gly715=)
c.2115T>C (p.Gly705=)
c.2058T>C (p.Gly686=)
c.2004T>C (p.Gly668=)
c.1797T>C (p.Gly599=)
c.2211T>C (p.Gly737=)
c.2205T>C (p.Gly735=)
c.2202T>C (p.Gly734=)
c.2262T>C (p.Gly754=)
c.2253T>C (p.Gly751=)
c.2172T>C (p.Gly724=)
c.2121T>C (p.Gly707=)
 gnomAD v3 gnomAD v4
14g.33800410T>GCA7150943NPAS3c.2103T>G (p.Gly701=)
c.2112T>G (p.Gly704=)
c.2003T>G
c.793+2829T>G
c.2007T>G (p.Gly669=)
c.2064T>G (p.Gly688=)
c.2013T>G (p.Gly671=)
c.2118T>G (p.Gly706=)
c.2025T>G (p.Gly675=)
c.2124T>G (p.Gly708=)
c.2154T>G (p.Gly718=)
c.2145T>G (p.Gly715=)
c.2115T>G (p.Gly705=)
c.2058T>G (p.Gly686=)
c.2004T>G (p.Gly668=)
c.1797T>G (p.Gly599=)
c.2211T>G (p.Gly737=)
c.2205T>G (p.Gly735=)
c.2202T>G (p.Gly734=)
c.2262T>G (p.Gly754=)
c.2253T>G (p.Gly751=)
c.2172T>G (p.Gly724=)
c.2121T>G (p.Gly707=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800410T=CA2128327427NPAS3c.2103T= (p.Gly701=)
c.2112T= (p.Gly704=)
c.2003T=
c.793+2829T=
c.2007T= (p.Gly669=)
c.2064T= (p.Gly688=)
c.2013T= (p.Gly671=)
c.2118T= (p.Gly706=)
c.2025T= (p.Gly675=)
c.2124T= (p.Gly708=)
c.2154T= (p.Gly718=)
c.2145T= (p.Gly715=)
c.2115T= (p.Gly705=)
c.2058T= (p.Gly686=)
c.2004T= (p.Gly668=)
c.1797T= (p.Gly599=)
c.2211T= (p.Gly737=)
c.2205T= (p.Gly735=)
c.2202T= (p.Gly734=)
c.2262T= (p.Gly754=)
c.2253T= (p.Gly751=)
c.2172T= (p.Gly724=)
c.2121T= (p.Gly707=)
14g.33800411G>ACA7150944NPAS3c.2104G>A (p.Gly702Ser)
c.2113G>A (p.Gly705Ser)
c.2004G>A
c.793+2830G>A
c.2008G>A (p.Gly670Ser)
c.2065G>A (p.Gly689Ser)
c.2014G>A (p.Gly672Ser)
c.2119G>A (p.Gly707Ser)
c.2026G>A (p.Gly676Ser)
c.2125G>A (p.Gly709Ser)
c.2155G>A (p.Gly719Ser)
c.2146G>A (p.Gly716Ser)
c.2116G>A (p.Gly706Ser)
c.2059G>A (p.Gly687Ser)
c.2005G>A (p.Gly669Ser)
c.1798G>A (p.Gly600Ser)
c.2212G>A (p.Gly738Ser)
c.2206G>A (p.Gly736Ser)
c.2203G>A (p.Gly735Ser)
c.2263G>A (p.Gly755Ser)
c.2254G>A (p.Gly752Ser)
c.2173G>A (p.Gly725Ser)
c.2122G>A (p.Gly708Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800411G>CCA389413926NPAS3c.2104G>C (p.Gly702Arg)
c.2113G>C (p.Gly705Arg)
c.2004G>C
c.793+2830G>C
c.2008G>C (p.Gly670Arg)
c.2065G>C (p.Gly689Arg)
c.2014G>C (p.Gly672Arg)
c.2119G>C (p.Gly707Arg)
c.2026G>C (p.Gly676Arg)
c.2125G>C (p.Gly709Arg)
c.2155G>C (p.Gly719Arg)
c.2146G>C (p.Gly716Arg)
c.2116G>C (p.Gly706Arg)
c.2059G>C (p.Gly687Arg)
c.2005G>C (p.Gly669Arg)
c.1798G>C (p.Gly600Arg)
c.2212G>C (p.Gly738Arg)
c.2206G>C (p.Gly736Arg)
c.2203G>C (p.Gly735Arg)
c.2263G>C (p.Gly755Arg)
c.2254G>C (p.Gly752Arg)
c.2173G>C (p.Gly725Arg)
c.2122G>C (p.Gly708Arg)
14g.33800411G=CA2128327431NPAS3c.2104G= (p.Gly702=)
c.2113G= (p.Gly705=)
c.2004G=
c.793+2830G=
c.2008G= (p.Gly670=)
c.2065G= (p.Gly689=)
c.2014G= (p.Gly672=)
c.2119G= (p.Gly707=)
c.2026G= (p.Gly676=)
c.2125G= (p.Gly709=)
c.2155G= (p.Gly719=)
c.2146G= (p.Gly716=)
c.2116G= (p.Gly706=)
c.2059G= (p.Gly687=)
c.2005G= (p.Gly669=)
c.1798G= (p.Gly600=)
c.2212G= (p.Gly738=)
c.2206G= (p.Gly736=)
c.2203G= (p.Gly735=)
c.2263G= (p.Gly755=)
c.2254G= (p.Gly752=)
c.2173G= (p.Gly725=)
c.2122G= (p.Gly708=)
14g.33800411G>TCA389413928NPAS3c.2104G>T (p.Gly702Cys)
c.2113G>T (p.Gly705Cys)
c.2004G>T
c.793+2830G>T
c.2008G>T (p.Gly670Cys)
c.2065G>T (p.Gly689Cys)
c.2014G>T (p.Gly672Cys)
c.2119G>T (p.Gly707Cys)
c.2026G>T (p.Gly676Cys)
c.2125G>T (p.Gly709Cys)
c.2155G>T (p.Gly719Cys)
c.2146G>T (p.Gly716Cys)
c.2116G>T (p.Gly706Cys)
c.2059G>T (p.Gly687Cys)
c.2005G>T (p.Gly669Cys)
c.1798G>T (p.Gly600Cys)
c.2212G>T (p.Gly738Cys)
c.2206G>T (p.Gly736Cys)
c.2203G>T (p.Gly735Cys)
c.2263G>T (p.Gly755Cys)
c.2254G>T (p.Gly752Cys)
c.2173G>T (p.Gly725Cys)
c.2122G>T (p.Gly708Cys)
14g.33800413_33800421dupCA2624512035NPAS3c.2106_2114dup (p.Gly705_Gly706insGlyGlyGly)
c.2115_2123dup (p.Gly708_Gly709insGlyGlyGly)
c.2006_2014dup
c.793+2832_793+2840dup
c.2010_2018dup (p.Gly673_Gly674insGlyGlyGly)
c.2067_2075dup (p.Gly692_Gly693insGlyGlyGly)
c.2016_2024dup (p.Gly675_Gly676insGlyGlyGly)
c.2121_2129dup (p.Gly710_Gly711insGlyGlyGly)
c.2028_2036dup (p.Gly679_Gly680insGlyGlyGly)
c.2127_2135dup (p.Gly712_Gly713insGlyGlyGly)
c.2157_2165dup (p.Gly722_Gly723insGlyGlyGly)
c.2148_2156dup (p.Gly719_Gly720insGlyGlyGly)
c.2118_2126dup (p.Gly709_Gly710insGlyGlyGly)
c.2061_2069dup (p.Gly690_Gly691insGlyGlyGly)
c.2007_2015dup (p.Gly672_Gly673insGlyGlyGly)
c.1800_1808dup (p.Gly603_Gly604insGlyGlyGly)
c.2214_2222dup (p.Gly741_Gly742insGlyGlyGly)
c.2208_2216dup (p.Gly739_Gly740insGlyGlyGly)
c.2205_2213dup (p.Gly738_Gly739insGlyGlyGly)
c.2265_2273dup (p.Gly758_Gly759insGlyGlyGly)
c.2256_2264dup (p.Gly755_Gly756insGlyGlyGly)
c.2175_2183dup (p.Gly728_Gly729insGlyGlyGly)
c.2124_2132dup (p.Gly711_Gly712insGlyGlyGly)
 gnomAD v4
14g.33800412G>ACA389413934NPAS3c.2105G>A (p.Gly702Asp)
c.2114G>A (p.Gly705Asp)
c.2005G>A
c.793+2831G>A
c.2009G>A (p.Gly670Asp)
c.2066G>A (p.Gly689Asp)
c.2015G>A (p.Gly672Asp)
c.2120G>A (p.Gly707Asp)
c.2027G>A (p.Gly676Asp)
c.2126G>A (p.Gly709Asp)
c.2156G>A (p.Gly719Asp)
c.2147G>A (p.Gly716Asp)
c.2117G>A (p.Gly706Asp)
c.2060G>A (p.Gly687Asp)
c.2006G>A (p.Gly669Asp)
c.1799G>A (p.Gly600Asp)
c.2213G>A (p.Gly738Asp)
c.2207G>A (p.Gly736Asp)
c.2204G>A (p.Gly735Asp)
c.2264G>A (p.Gly755Asp)
c.2255G>A (p.Gly752Asp)
c.2174G>A (p.Gly725Asp)
c.2123G>A (p.Gly708Asp)
 dbSNP gnomAD v2 gnomAD v4
14g.33800412G>CCA389413932NPAS3c.2105G>C (p.Gly702Ala)
c.2114G>C (p.Gly705Ala)
c.2005G>C
c.793+2831G>C
c.2009G>C (p.Gly670Ala)
c.2066G>C (p.Gly689Ala)
c.2015G>C (p.Gly672Ala)
c.2120G>C (p.Gly707Ala)
c.2027G>C (p.Gly676Ala)
c.2126G>C (p.Gly709Ala)
c.2156G>C (p.Gly719Ala)
c.2147G>C (p.Gly716Ala)
c.2117G>C (p.Gly706Ala)
c.2060G>C (p.Gly687Ala)
c.2006G>C (p.Gly669Ala)
c.1799G>C (p.Gly600Ala)
c.2213G>C (p.Gly738Ala)
c.2207G>C (p.Gly736Ala)
c.2204G>C (p.Gly735Ala)
c.2264G>C (p.Gly755Ala)
c.2255G>C (p.Gly752Ala)
c.2174G>C (p.Gly725Ala)
c.2123G>C (p.Gly708Ala)
14g.33800412G=CA2128327436NPAS3c.2105G= (p.Gly702=)
c.2114G= (p.Gly705=)
c.2005G=
c.793+2831G=
c.2009G= (p.Gly670=)
c.2066G= (p.Gly689=)
c.2015G= (p.Gly672=)
c.2120G= (p.Gly707=)
c.2027G= (p.Gly676=)
c.2126G= (p.Gly709=)
c.2156G= (p.Gly719=)
c.2147G= (p.Gly716=)
c.2117G= (p.Gly706=)
c.2060G= (p.Gly687=)
c.2006G= (p.Gly669=)
c.1799G= (p.Gly600=)
c.2213G= (p.Gly738=)
c.2207G= (p.Gly736=)
c.2204G= (p.Gly735=)
c.2264G= (p.Gly755=)
c.2255G= (p.Gly752=)
c.2174G= (p.Gly725=)
c.2123G= (p.Gly708=)
14g.33800412G>TCA389413930NPAS3c.2105G>T (p.Gly702Val)
c.2114G>T (p.Gly705Val)
c.2005G>T
c.793+2831G>T
c.2009G>T (p.Gly670Val)
c.2066G>T (p.Gly689Val)
c.2015G>T (p.Gly672Val)
c.2120G>T (p.Gly707Val)
c.2027G>T (p.Gly676Val)
c.2126G>T (p.Gly709Val)
c.2156G>T (p.Gly719Val)
c.2147G>T (p.Gly716Val)
c.2117G>T (p.Gly706Val)
c.2060G>T (p.Gly687Val)
c.2006G>T (p.Gly669Val)
c.1799G>T (p.Gly600Val)
c.2213G>T (p.Gly738Val)
c.2207G>T (p.Gly736Val)
c.2204G>T (p.Gly735Val)
c.2264G>T (p.Gly755Val)
c.2255G>T (p.Gly752Val)
c.2174G>T (p.Gly725Val)
c.2123G>T (p.Gly708Val)
14g.33800413C>ACA486093116NPAS3c.2106C>A (p.Gly702=)
c.2115C>A (p.Gly705=)
c.2006C>A
c.793+2832C>A
c.2010C>A (p.Gly670=)
c.2067C>A (p.Gly689=)
c.2016C>A (p.Gly672=)
c.2121C>A (p.Gly707=)
c.2028C>A (p.Gly676=)
c.2127C>A (p.Gly709=)
c.2157C>A (p.Gly719=)
c.2148C>A (p.Gly716=)
c.2118C>A (p.Gly706=)
c.2061C>A (p.Gly687=)
c.2007C>A (p.Gly669=)
c.1800C>A (p.Gly600=)
c.2214C>A (p.Gly738=)
c.2208C>A (p.Gly736=)
c.2205C>A (p.Gly735=)
c.2265C>A (p.Gly755=)
c.2256C>A (p.Gly752=)
c.2175C>A (p.Gly725=)
c.2124C>A (p.Gly708=)
 gnomAD v4
14g.33800413C=CA2128327437NPAS3c.2106C= (p.Gly702=)
c.2115C= (p.Gly705=)
c.2006C=
c.793+2832C=
c.2010C= (p.Gly670=)
c.2067C= (p.Gly689=)
c.2016C= (p.Gly672=)
c.2121C= (p.Gly707=)
c.2028C= (p.Gly676=)
c.2127C= (p.Gly709=)
c.2157C= (p.Gly719=)
c.2148C= (p.Gly716=)
c.2118C= (p.Gly706=)
c.2061C= (p.Gly687=)
c.2007C= (p.Gly669=)
c.1800C= (p.Gly600=)
c.2214C= (p.Gly738=)
c.2208C= (p.Gly736=)
c.2205C= (p.Gly735=)
c.2265C= (p.Gly755=)
c.2256C= (p.Gly752=)
c.2175C= (p.Gly725=)
c.2124C= (p.Gly708=)
14g.33800413C>GCA486093117NPAS3c.2106C>G (p.Gly702=)
c.2115C>G (p.Gly705=)
c.2006C>G
c.793+2832C>G
c.2010C>G (p.Gly670=)
c.2067C>G (p.Gly689=)
c.2016C>G (p.Gly672=)
c.2121C>G (p.Gly707=)
c.2028C>G (p.Gly676=)
c.2127C>G (p.Gly709=)
c.2157C>G (p.Gly719=)
c.2148C>G (p.Gly716=)
c.2118C>G (p.Gly706=)
c.2061C>G (p.Gly687=)
c.2007C>G (p.Gly669=)
c.1800C>G (p.Gly600=)
c.2214C>G (p.Gly738=)
c.2208C>G (p.Gly736=)
c.2205C>G (p.Gly735=)
c.2265C>G (p.Gly755=)
c.2256C>G (p.Gly752=)
c.2175C>G (p.Gly725=)
c.2124C>G (p.Gly708=)
 dbSNP gnomAD v4
14g.33800413C>TCA486093119NPAS3c.2106C>T (p.Gly702=)
c.2115C>T (p.Gly705=)
c.2006C>T
c.793+2832C>T
c.2010C>T (p.Gly670=)
c.2067C>T (p.Gly689=)
c.2016C>T (p.Gly672=)
c.2121C>T (p.Gly707=)
c.2028C>T (p.Gly676=)
c.2127C>T (p.Gly709=)
c.2157C>T (p.Gly719=)
c.2148C>T (p.Gly716=)
c.2118C>T (p.Gly706=)
c.2061C>T (p.Gly687=)
c.2007C>T (p.Gly669=)
c.1800C>T (p.Gly600=)
c.2214C>T (p.Gly738=)
c.2208C>T (p.Gly736=)
c.2205C>T (p.Gly735=)
c.2265C>T (p.Gly755=)
c.2256C>T (p.Gly752=)
c.2175C>T (p.Gly725=)
c.2124C>T (p.Gly708=)
 gnomAD v4
14g.33800414G>ACA389413936NPAS3c.2107G>A (p.Gly703Ser)
c.2116G>A (p.Gly706Ser)
c.2007G>A
c.793+2833G>A
c.2011G>A (p.Gly671Ser)
c.2068G>A (p.Gly690Ser)
c.2017G>A (p.Gly673Ser)
c.2122G>A (p.Gly708Ser)
c.2029G>A (p.Gly677Ser)
c.2128G>A (p.Gly710Ser)
c.2158G>A (p.Gly720Ser)
c.2149G>A (p.Gly717Ser)
c.2119G>A (p.Gly707Ser)
c.2062G>A (p.Gly688Ser)
c.2008G>A (p.Gly670Ser)
c.1801G>A (p.Gly601Ser)
c.2215G>A (p.Gly739Ser)
c.2209G>A (p.Gly737Ser)
c.2206G>A (p.Gly736Ser)
c.2266G>A (p.Gly756Ser)
c.2257G>A (p.Gly753Ser)
c.2176G>A (p.Gly726Ser)
c.2125G>A (p.Gly709Ser)
 gnomAD v4
14g.33800414G>CCA389413938NPAS3c.2107G>C (p.Gly703Arg)
c.2116G>C (p.Gly706Arg)
c.2007G>C
c.793+2833G>C
c.2011G>C (p.Gly671Arg)
c.2068G>C (p.Gly690Arg)
c.2017G>C (p.Gly673Arg)
c.2122G>C (p.Gly708Arg)
c.2029G>C (p.Gly677Arg)
c.2128G>C (p.Gly710Arg)
c.2158G>C (p.Gly720Arg)
c.2149G>C (p.Gly717Arg)
c.2119G>C (p.Gly707Arg)
c.2062G>C (p.Gly688Arg)
c.2008G>C (p.Gly670Arg)
c.1801G>C (p.Gly601Arg)
c.2215G>C (p.Gly739Arg)
c.2209G>C (p.Gly737Arg)
c.2206G>C (p.Gly736Arg)
c.2266G>C (p.Gly756Arg)
c.2257G>C (p.Gly753Arg)
c.2176G>C (p.Gly726Arg)
c.2125G>C (p.Gly709Arg)
14g.33800414G>TCA389413940NPAS3c.2107G>T (p.Gly703Cys)
c.2116G>T (p.Gly706Cys)
c.2007G>T
c.793+2833G>T
c.2011G>T (p.Gly671Cys)
c.2068G>T (p.Gly690Cys)
c.2017G>T (p.Gly673Cys)
c.2122G>T (p.Gly708Cys)
c.2029G>T (p.Gly677Cys)
c.2128G>T (p.Gly710Cys)
c.2158G>T (p.Gly720Cys)
c.2149G>T (p.Gly717Cys)
c.2119G>T (p.Gly707Cys)
c.2062G>T (p.Gly688Cys)
c.2008G>T (p.Gly670Cys)
c.1801G>T (p.Gly601Cys)
c.2215G>T (p.Gly739Cys)
c.2209G>T (p.Gly737Cys)
c.2206G>T (p.Gly736Cys)
c.2266G>T (p.Gly756Cys)
c.2257G>T (p.Gly753Cys)
c.2176G>T (p.Gly726Cys)
c.2125G>T (p.Gly709Cys)
14g.33800416_33800418delCA2541428685NPAS3c.2109_2111del (p.Gly704del)
c.2118_2120del (p.Gly707del)
c.2009_2011del
c.793+2835_793+2837del
c.2013_2015del (p.Gly672del)
c.2070_2072del (p.Gly691del)
c.2019_2021del (p.Gly674del)
c.2124_2126del (p.Gly709del)
c.2031_2033del (p.Gly678del)
c.2130_2132del (p.Gly711del)
c.2160_2162del (p.Gly721del)
c.2151_2153del (p.Gly718del)
c.2121_2123del (p.Gly708del)
c.2064_2066del (p.Gly689del)
c.2010_2012del (p.Gly671del)
c.1803_1805del (p.Gly602del)
c.2217_2219del (p.Gly740del)
c.2211_2213del (p.Gly738del)
c.2208_2210del (p.Gly737del)
c.2268_2270del (p.Gly757del)
c.2259_2261del (p.Gly754del)
c.2178_2180del (p.Gly727del)
c.2127_2129del (p.Gly710del)
14g.33800415G>ACA389413942NPAS3c.2108G>A (p.Gly703Asp)
c.2117G>A (p.Gly706Asp)
c.2008G>A
c.793+2834G>A
c.2012G>A (p.Gly671Asp)
c.2069G>A (p.Gly690Asp)
c.2018G>A (p.Gly673Asp)
c.2123G>A (p.Gly708Asp)
c.2030G>A (p.Gly677Asp)
c.2129G>A (p.Gly710Asp)
c.2159G>A (p.Gly720Asp)
c.2150G>A (p.Gly717Asp)
c.2120G>A (p.Gly707Asp)
c.2063G>A (p.Gly688Asp)
c.2009G>A (p.Gly670Asp)
c.1802G>A (p.Gly601Asp)
c.2216G>A (p.Gly739Asp)
c.2210G>A (p.Gly737Asp)
c.2207G>A (p.Gly736Asp)
c.2267G>A (p.Gly756Asp)
c.2258G>A (p.Gly753Asp)
c.2177G>A (p.Gly726Asp)
c.2126G>A (p.Gly709Asp)
 gnomAD v4
14g.33800415G>CCA389413944NPAS3c.2108G>C (p.Gly703Ala)
c.2117G>C (p.Gly706Ala)
c.2008G>C
c.793+2834G>C
c.2012G>C (p.Gly671Ala)
c.2069G>C (p.Gly690Ala)
c.2018G>C (p.Gly673Ala)
c.2123G>C (p.Gly708Ala)
c.2030G>C (p.Gly677Ala)
c.2129G>C (p.Gly710Ala)
c.2159G>C (p.Gly720Ala)
c.2150G>C (p.Gly717Ala)
c.2120G>C (p.Gly707Ala)
c.2063G>C (p.Gly688Ala)
c.2009G>C (p.Gly670Ala)
c.1802G>C (p.Gly601Ala)
c.2216G>C (p.Gly739Ala)
c.2210G>C (p.Gly737Ala)
c.2207G>C (p.Gly736Ala)
c.2267G>C (p.Gly756Ala)
c.2258G>C (p.Gly753Ala)
c.2177G>C (p.Gly726Ala)
c.2126G>C (p.Gly709Ala)
14g.33800415G=CA2128327439NPAS3c.2108G= (p.Gly703=)
c.2117G= (p.Gly706=)
c.2008G=
c.793+2834G=
c.2012G= (p.Gly671=)
c.2069G= (p.Gly690=)
c.2018G= (p.Gly673=)
c.2123G= (p.Gly708=)
c.2030G= (p.Gly677=)
c.2129G= (p.Gly710=)
c.2159G= (p.Gly720=)
c.2150G= (p.Gly717=)
c.2120G= (p.Gly707=)
c.2063G= (p.Gly688=)
c.2009G= (p.Gly670=)
c.1802G= (p.Gly601=)
c.2216G= (p.Gly739=)
c.2210G= (p.Gly737=)
c.2207G= (p.Gly736=)
c.2267G= (p.Gly756=)
c.2258G= (p.Gly753=)
c.2177G= (p.Gly726=)
c.2126G= (p.Gly709=)
14g.33800415G>TCA389413946NPAS3c.2108G>T (p.Gly703Val)
c.2117G>T (p.Gly706Val)
c.2008G>T
c.793+2834G>T
c.2012G>T (p.Gly671Val)
c.2069G>T (p.Gly690Val)
c.2018G>T (p.Gly673Val)
c.2123G>T (p.Gly708Val)
c.2030G>T (p.Gly677Val)
c.2129G>T (p.Gly710Val)
c.2159G>T (p.Gly720Val)
c.2150G>T (p.Gly717Val)
c.2120G>T (p.Gly707Val)
c.2063G>T (p.Gly688Val)
c.2009G>T (p.Gly670Val)
c.1802G>T (p.Gly601Val)
c.2216G>T (p.Gly739Val)
c.2210G>T (p.Gly737Val)
c.2207G>T (p.Gly736Val)
c.2267G>T (p.Gly756Val)
c.2258G>T (p.Gly753Val)
c.2177G>T (p.Gly726Val)
c.2126G>T (p.Gly709Val)
 dbSNP gnomAD v3 gnomAD v4
14g.33800416T>ACA486093122NPAS3c.2109T>A (p.Gly703=)
c.2118T>A (p.Gly706=)
c.2009T>A
c.793+2835T>A
c.2013T>A (p.Gly671=)
c.2070T>A (p.Gly690=)
c.2019T>A (p.Gly673=)
c.2124T>A (p.Gly708=)
c.2031T>A (p.Gly677=)
c.2130T>A (p.Gly710=)
c.2160T>A (p.Gly720=)
c.2151T>A (p.Gly717=)
c.2121T>A (p.Gly707=)
c.2064T>A (p.Gly688=)
c.2010T>A (p.Gly670=)
c.1803T>A (p.Gly601=)
c.2217T>A (p.Gly739=)
c.2211T>A (p.Gly737=)
c.2208T>A (p.Gly736=)
c.2268T>A (p.Gly756=)
c.2259T>A (p.Gly753=)
c.2178T>A (p.Gly726=)
c.2127T>A (p.Gly709=)
14g.33800416T>CCA486093123NPAS3c.2109T>C (p.Gly703=)
c.2118T>C (p.Gly706=)
c.2009T>C
c.793+2835T>C
c.2013T>C (p.Gly671=)
c.2070T>C (p.Gly690=)
c.2019T>C (p.Gly673=)
c.2124T>C (p.Gly708=)
c.2031T>C (p.Gly677=)
c.2130T>C (p.Gly710=)
c.2160T>C (p.Gly720=)
c.2151T>C (p.Gly717=)
c.2121T>C (p.Gly707=)
c.2064T>C (p.Gly688=)
c.2010T>C (p.Gly670=)
c.1803T>C (p.Gly601=)
c.2217T>C (p.Gly739=)
c.2211T>C (p.Gly737=)
c.2208T>C (p.Gly736=)
c.2268T>C (p.Gly756=)
c.2259T>C (p.Gly753=)
c.2178T>C (p.Gly726=)
c.2127T>C (p.Gly709=)
14g.33800416T>GCA486093124NPAS3c.2109T>G (p.Gly703=)
c.2118T>G (p.Gly706=)
c.2009T>G
c.793+2835T>G
c.2013T>G (p.Gly671=)
c.2070T>G (p.Gly690=)
c.2019T>G (p.Gly673=)
c.2124T>G (p.Gly708=)
c.2031T>G (p.Gly677=)
c.2130T>G (p.Gly710=)
c.2160T>G (p.Gly720=)
c.2151T>G (p.Gly717=)
c.2121T>G (p.Gly707=)
c.2064T>G (p.Gly688=)
c.2010T>G (p.Gly670=)
c.1803T>G (p.Gly601=)
c.2217T>G (p.Gly739=)
c.2211T>G (p.Gly737=)
c.2208T>G (p.Gly736=)
c.2268T>G (p.Gly756=)
c.2259T>G (p.Gly753=)
c.2178T>G (p.Gly726=)
c.2127T>G (p.Gly709=)
 dbSNP gnomAD v4
14g.33800417G>ACA389413948NPAS3c.2110G>A (p.Gly704Ser)
c.2119G>A (p.Gly707Ser)
c.2010G>A
c.793+2836G>A
c.2014G>A (p.Gly672Ser)
c.2071G>A (p.Gly691Ser)
c.2020G>A (p.Gly674Ser)
c.2125G>A (p.Gly709Ser)
c.2032G>A (p.Gly678Ser)
c.2131G>A (p.Gly711Ser)
c.2161G>A (p.Gly721Ser)
c.2152G>A (p.Gly718Ser)
c.2122G>A (p.Gly708Ser)
c.2065G>A (p.Gly689Ser)
c.2011G>A (p.Gly671Ser)
c.1804G>A (p.Gly602Ser)
c.2218G>A (p.Gly740Ser)
c.2212G>A (p.Gly738Ser)
c.2209G>A (p.Gly737Ser)
c.2269G>A (p.Gly757Ser)
c.2260G>A (p.Gly754Ser)
c.2179G>A (p.Gly727Ser)
c.2128G>A (p.Gly710Ser)
 gnomAD v4
14g.33800417G>CCA389413950NPAS3c.2110G>C (p.Gly704Arg)
c.2119G>C (p.Gly707Arg)
c.2010G>C
c.793+2836G>C
c.2014G>C (p.Gly672Arg)
c.2071G>C (p.Gly691Arg)
c.2020G>C (p.Gly674Arg)
c.2125G>C (p.Gly709Arg)
c.2032G>C (p.Gly678Arg)
c.2131G>C (p.Gly711Arg)
c.2161G>C (p.Gly721Arg)
c.2152G>C (p.Gly718Arg)
c.2122G>C (p.Gly708Arg)
c.2065G>C (p.Gly689Arg)
c.2011G>C (p.Gly671Arg)
c.1804G>C (p.Gly602Arg)
c.2218G>C (p.Gly740Arg)
c.2212G>C (p.Gly738Arg)
c.2209G>C (p.Gly737Arg)
c.2269G>C (p.Gly757Arg)
c.2260G>C (p.Gly754Arg)
c.2179G>C (p.Gly727Arg)
c.2128G>C (p.Gly710Arg)
 gnomAD v3 gnomAD v4
14g.33800417G>TCA389413952NPAS3c.2110G>T (p.Gly704Cys)
c.2119G>T (p.Gly707Cys)
c.2010G>T
c.793+2836G>T
c.2014G>T (p.Gly672Cys)
c.2071G>T (p.Gly691Cys)
c.2020G>T (p.Gly674Cys)
c.2125G>T (p.Gly709Cys)
c.2032G>T (p.Gly678Cys)
c.2131G>T (p.Gly711Cys)
c.2161G>T (p.Gly721Cys)
c.2152G>T (p.Gly718Cys)
c.2122G>T (p.Gly708Cys)
c.2065G>T (p.Gly689Cys)
c.2011G>T (p.Gly671Cys)
c.1804G>T (p.Gly602Cys)
c.2218G>T (p.Gly740Cys)
c.2212G>T (p.Gly738Cys)
c.2209G>T (p.Gly737Cys)
c.2269G>T (p.Gly757Cys)
c.2260G>T (p.Gly754Cys)
c.2179G>T (p.Gly727Cys)
c.2128G>T (p.Gly710Cys)
14g.33800418G>ACA7150945NPAS3c.2111G>A (p.Gly704Asp)
c.2120G>A (p.Gly707Asp)
c.2011G>A
c.793+2837G>A
c.2015G>A (p.Gly672Asp)
c.2072G>A (p.Gly691Asp)
c.2021G>A (p.Gly674Asp)
c.2126G>A (p.Gly709Asp)
c.2033G>A (p.Gly678Asp)
c.2132G>A (p.Gly711Asp)
c.2162G>A (p.Gly721Asp)
c.2153G>A (p.Gly718Asp)
c.2123G>A (p.Gly708Asp)
c.2066G>A (p.Gly689Asp)
c.2012G>A (p.Gly671Asp)
c.1805G>A (p.Gly602Asp)
c.2219G>A (p.Gly740Asp)
c.2213G>A (p.Gly738Asp)
c.2210G>A (p.Gly737Asp)
c.2270G>A (p.Gly757Asp)
c.2261G>A (p.Gly754Asp)
c.2180G>A (p.Gly727Asp)
c.2129G>A (p.Gly710Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800418G>CCA389413955NPAS3c.2111G>C (p.Gly704Ala)
c.2120G>C (p.Gly707Ala)
c.2011G>C
c.793+2837G>C
c.2015G>C (p.Gly672Ala)
c.2072G>C (p.Gly691Ala)
c.2021G>C (p.Gly674Ala)
c.2126G>C (p.Gly709Ala)
c.2033G>C (p.Gly678Ala)
c.2132G>C (p.Gly711Ala)
c.2162G>C (p.Gly721Ala)
c.2153G>C (p.Gly718Ala)
c.2123G>C (p.Gly708Ala)
c.2066G>C (p.Gly689Ala)
c.2012G>C (p.Gly671Ala)
c.1805G>C (p.Gly602Ala)
c.2219G>C (p.Gly740Ala)
c.2213G>C (p.Gly738Ala)
c.2210G>C (p.Gly737Ala)
c.2270G>C (p.Gly757Ala)
c.2261G>C (p.Gly754Ala)
c.2180G>C (p.Gly727Ala)
c.2129G>C (p.Gly710Ala)
14g.33800418G=CA2128327442NPAS3c.2111G= (p.Gly704=)
c.2120G= (p.Gly707=)
c.2011G=
c.793+2837G=
c.2015G= (p.Gly672=)
c.2072G= (p.Gly691=)
c.2021G= (p.Gly674=)
c.2126G= (p.Gly709=)
c.2033G= (p.Gly678=)
c.2132G= (p.Gly711=)
c.2162G= (p.Gly721=)
c.2153G= (p.Gly718=)
c.2123G= (p.Gly708=)
c.2066G= (p.Gly689=)
c.2012G= (p.Gly671=)
c.1805G= (p.Gly602=)
c.2219G= (p.Gly740=)
c.2213G= (p.Gly738=)
c.2210G= (p.Gly737=)
c.2270G= (p.Gly757=)
c.2261G= (p.Gly754=)
c.2180G= (p.Gly727=)
c.2129G= (p.Gly710=)
14g.33800418G>TCA389413957NPAS3c.2111G>T (p.Gly704Val)
c.2120G>T (p.Gly707Val)
c.2011G>T
c.793+2837G>T
c.2015G>T (p.Gly672Val)
c.2072G>T (p.Gly691Val)
c.2021G>T (p.Gly674Val)
c.2126G>T (p.Gly709Val)
c.2033G>T (p.Gly678Val)
c.2132G>T (p.Gly711Val)
c.2162G>T (p.Gly721Val)
c.2153G>T (p.Gly718Val)
c.2123G>T (p.Gly708Val)
c.2066G>T (p.Gly689Val)
c.2012G>T (p.Gly671Val)
c.1805G>T (p.Gly602Val)
c.2219G>T (p.Gly740Val)
c.2213G>T (p.Gly738Val)
c.2210G>T (p.Gly737Val)
c.2270G>T (p.Gly757Val)
c.2261G>T (p.Gly754Val)
c.2180G>T (p.Gly727Val)
c.2129G>T (p.Gly710Val)
 gnomAD v4
14g.33800419C>ACA486093129NPAS3c.2112C>A (p.Gly704=)
c.2121C>A (p.Gly707=)
c.2012C>A
c.793+2838C>A
c.2016C>A (p.Gly672=)
c.2073C>A (p.Gly691=)
c.2022C>A (p.Gly674=)
c.2127C>A (p.Gly709=)
c.2034C>A (p.Gly678=)
c.2133C>A (p.Gly711=)
c.2163C>A (p.Gly721=)
c.2154C>A (p.Gly718=)
c.2124C>A (p.Gly708=)
c.2067C>A (p.Gly689=)
c.2013C>A (p.Gly671=)
c.1806C>A (p.Gly602=)
c.2220C>A (p.Gly740=)
c.2214C>A (p.Gly738=)
c.2211C>A (p.Gly737=)
c.2271C>A (p.Gly757=)
c.2262C>A (p.Gly754=)
c.2181C>A (p.Gly727=)
c.2130C>A (p.Gly710=)
 dbSNP gnomAD v2 gnomAD v4
14g.33800419C=CA2128327445NPAS3c.2112C= (p.Gly704=)
c.2121C= (p.Gly707=)
c.2012C=
c.793+2838C=
c.2016C= (p.Gly672=)
c.2073C= (p.Gly691=)
c.2022C= (p.Gly674=)
c.2127C= (p.Gly709=)
c.2034C= (p.Gly678=)
c.2133C= (p.Gly711=)
c.2163C= (p.Gly721=)
c.2154C= (p.Gly718=)
c.2124C= (p.Gly708=)
c.2067C= (p.Gly689=)
c.2013C= (p.Gly671=)
c.1806C= (p.Gly602=)
c.2220C= (p.Gly740=)
c.2214C= (p.Gly738=)
c.2211C= (p.Gly737=)
c.2271C= (p.Gly757=)
c.2262C= (p.Gly754=)
c.2181C= (p.Gly727=)
c.2130C= (p.Gly710=)
14g.33800419C>GCA486093130NPAS3c.2112C>G (p.Gly704=)
c.2121C>G (p.Gly707=)
c.2012C>G
c.793+2838C>G
c.2016C>G (p.Gly672=)
c.2073C>G (p.Gly691=)
c.2022C>G (p.Gly674=)
c.2127C>G (p.Gly709=)
c.2034C>G (p.Gly678=)
c.2133C>G (p.Gly711=)
c.2163C>G (p.Gly721=)
c.2154C>G (p.Gly718=)
c.2124C>G (p.Gly708=)
c.2067C>G (p.Gly689=)
c.2013C>G (p.Gly671=)
c.1806C>G (p.Gly602=)
c.2220C>G (p.Gly740=)
c.2214C>G (p.Gly738=)
c.2211C>G (p.Gly737=)
c.2271C>G (p.Gly757=)
c.2262C>G (p.Gly754=)
c.2181C>G (p.Gly727=)
c.2130C>G (p.Gly710=)
 dbSNP gnomAD v4
14g.33800419C>TCA258719138NPAS3c.2112C>T (p.Gly704=)
c.2121C>T (p.Gly707=)
c.2012C>T
c.793+2838C>T
c.2016C>T (p.Gly672=)
c.2073C>T (p.Gly691=)
c.2022C>T (p.Gly674=)
c.2127C>T (p.Gly709=)
c.2034C>T (p.Gly678=)
c.2133C>T (p.Gly711=)
c.2163C>T (p.Gly721=)
c.2154C>T (p.Gly718=)
c.2124C>T (p.Gly708=)
c.2067C>T (p.Gly689=)
c.2013C>T (p.Gly671=)
c.1806C>T (p.Gly602=)
c.2220C>T (p.Gly740=)
c.2214C>T (p.Gly738=)
c.2211C>T (p.Gly737=)
c.2271C>T (p.Gly757=)
c.2262C>T (p.Gly754=)
c.2181C>T (p.Gly727=)
c.2130C>T (p.Gly710=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800420G>ACA7150946NPAS3c.2113G>A (p.Gly705Arg)
c.2122G>A (p.Gly708Arg)
c.2013G>A
c.793+2839G>A
c.2017G>A (p.Gly673Arg)
c.2074G>A (p.Gly692Arg)
c.2023G>A (p.Gly675Arg)
c.2128G>A (p.Gly710Arg)
c.2035G>A (p.Gly679Arg)
c.2134G>A (p.Gly712Arg)
c.2164G>A (p.Gly722Arg)
c.2155G>A (p.Gly719Arg)
c.2125G>A (p.Gly709Arg)
c.2068G>A (p.Gly690Arg)
c.2014G>A (p.Gly672Arg)
c.1807G>A (p.Gly603Arg)
c.2221G>A (p.Gly741Arg)
c.2215G>A (p.Gly739Arg)
c.2212G>A (p.Gly738Arg)
c.2272G>A (p.Gly758Arg)
c.2263G>A (p.Gly755Arg)
c.2182G>A (p.Gly728Arg)
c.2131G>A (p.Gly711Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800420G>CCA389413962NPAS3c.2113G>C (p.Gly705Arg)
c.2122G>C (p.Gly708Arg)
c.2013G>C
c.793+2839G>C
c.2017G>C (p.Gly673Arg)
c.2074G>C (p.Gly692Arg)
c.2023G>C (p.Gly675Arg)
c.2128G>C (p.Gly710Arg)
c.2035G>C (p.Gly679Arg)
c.2134G>C (p.Gly712Arg)
c.2164G>C (p.Gly722Arg)
c.2155G>C (p.Gly719Arg)
c.2125G>C (p.Gly709Arg)
c.2068G>C (p.Gly690Arg)
c.2014G>C (p.Gly672Arg)
c.1807G>C (p.Gly603Arg)
c.2221G>C (p.Gly741Arg)
c.2215G>C (p.Gly739Arg)
c.2212G>C (p.Gly738Arg)
c.2272G>C (p.Gly758Arg)
c.2263G>C (p.Gly755Arg)
c.2182G>C (p.Gly728Arg)
c.2131G>C (p.Gly711Arg)
14g.33800420G=CA2128327448NPAS3c.2113G= (p.Gly705=)
c.2122G= (p.Gly708=)
c.2013G=
c.793+2839G=
c.2017G= (p.Gly673=)
c.2074G= (p.Gly692=)
c.2023G= (p.Gly675=)
c.2128G= (p.Gly710=)
c.2035G= (p.Gly679=)
c.2134G= (p.Gly712=)
c.2164G= (p.Gly722=)
c.2155G= (p.Gly719=)
c.2125G= (p.Gly709=)
c.2068G= (p.Gly690=)
c.2014G= (p.Gly672=)
c.1807G= (p.Gly603=)
c.2221G= (p.Gly741=)
c.2215G= (p.Gly739=)
c.2212G= (p.Gly738=)
c.2272G= (p.Gly758=)
c.2263G= (p.Gly755=)
c.2182G= (p.Gly728=)
c.2131G= (p.Gly711=)
14g.33800420G>TCA389413960NPAS3c.2113G>T (p.Gly705Trp)
c.2122G>T (p.Gly708Trp)
c.2013G>T
c.793+2839G>T
c.2017G>T (p.Gly673Trp)
c.2074G>T (p.Gly692Trp)
c.2023G>T (p.Gly675Trp)
c.2128G>T (p.Gly710Trp)
c.2035G>T (p.Gly679Trp)
c.2134G>T (p.Gly712Trp)
c.2164G>T (p.Gly722Trp)
c.2155G>T (p.Gly719Trp)
c.2125G>T (p.Gly709Trp)
c.2068G>T (p.Gly690Trp)
c.2014G>T (p.Gly672Trp)
c.1807G>T (p.Gly603Trp)
c.2221G>T (p.Gly741Trp)
c.2215G>T (p.Gly739Trp)
c.2212G>T (p.Gly738Trp)
c.2272G>T (p.Gly758Trp)
c.2263G>T (p.Gly755Trp)
c.2182G>T (p.Gly728Trp)
c.2131G>T (p.Gly711Trp)
14g.33800425dupCA613803864NPAS3c.2118dup (p.Leu707AlafsTer?)
c.2127dup (p.Leu710AlafsTer?)
c.2018dup
c.793+2844dup
c.2022dup (p.Leu675AlafsTer?)
c.2079dup (p.Leu694AlafsTer?)
c.2028dup (p.Leu677AlafsTer?)
c.2133dup (p.Leu712AlafsTer?)
c.2040dup (p.Leu681AlafsTer?)
c.2139dup (p.Leu714AlafsTer?)
c.2169dup (p.Leu724AlafsTer?)
c.2160dup (p.Leu721AlafsTer?)
c.2130dup (p.Leu711AlafsTer?)
c.2073dup (p.Leu692AlafsTer?)
c.2019dup (p.Leu674AlafsTer?)
c.1812dup (p.Leu605AlafsTer?)
c.2226dup (p.Leu743AlafsTer?)
c.2220dup (p.Leu741AlafsTer?)
c.2217dup (p.Leu740AlafsTer?)
c.2277dup (p.Leu760AlafsTer?)
c.2268dup (p.Leu757AlafsTer?)
c.2187dup (p.Leu730AlafsTer?)
c.2136dup (p.Leu713AlafsTer?)
 gnomAD v2 gnomAD v4
14g.33800425delCA645582790NPAS3c.2118del (p.Leu707CysfsTer?)
c.2127del (p.Leu710CysfsTer?)
c.2018del
c.793+2844del
c.2022del (p.Leu675CysfsTer?)
c.2079del (p.Leu694CysfsTer?)
c.2028del (p.Leu677CysfsTer?)
c.2133del (p.Leu712CysfsTer?)
c.2040del (p.Leu681CysfsTer?)
c.2139del (p.Leu714CysfsTer?)
c.2169del (p.Leu724CysfsTer?)
c.2160del (p.Leu721CysfsTer?)
c.2130del (p.Leu711CysfsTer?)
c.2073del (p.Leu692CysfsTer?)
c.2019del (p.Leu674CysfsTer?)
c.1812del (p.Leu605CysfsTer?)
c.2226del (p.Leu743CysfsTer?)
c.2220del (p.Leu741CysfsTer?)
c.2217del (p.Leu740CysfsTer?)
c.2277del (p.Leu760CysfsTer?)
c.2268del (p.Leu757CysfsTer?)
c.2187del (p.Leu730CysfsTer?)
c.2136del (p.Leu713CysfsTer?)
 gnomAD v4 COSMIC
14g.33800421G>ACA389413967NPAS3c.2114G>A (p.Gly705Glu)
c.2123G>A (p.Gly708Glu)
c.2014G>A
c.793+2840G>A
c.2018G>A (p.Gly673Glu)
c.2075G>A (p.Gly692Glu)
c.2024G>A (p.Gly675Glu)
c.2129G>A (p.Gly710Glu)
c.2036G>A (p.Gly679Glu)
c.2135G>A (p.Gly712Glu)
c.2165G>A (p.Gly722Glu)
c.2156G>A (p.Gly719Glu)
c.2126G>A (p.Gly709Glu)
c.2069G>A (p.Gly690Glu)
c.2015G>A (p.Gly672Glu)
c.1808G>A (p.Gly603Glu)
c.2222G>A (p.Gly741Glu)
c.2216G>A (p.Gly739Glu)
c.2213G>A (p.Gly738Glu)
c.2273G>A (p.Gly758Glu)
c.2264G>A (p.Gly755Glu)
c.2183G>A (p.Gly728Glu)
c.2132G>A (p.Gly711Glu)
 gnomAD v4
14g.33800421G>CCA7150947NPAS3c.2114G>C (p.Gly705Ala)
c.2123G>C (p.Gly708Ala)
c.2014G>C
c.793+2840G>C
c.2018G>C (p.Gly673Ala)
c.2075G>C (p.Gly692Ala)
c.2024G>C (p.Gly675Ala)
c.2129G>C (p.Gly710Ala)
c.2036G>C (p.Gly679Ala)
c.2135G>C (p.Gly712Ala)
c.2165G>C (p.Gly722Ala)
c.2156G>C (p.Gly719Ala)
c.2126G>C (p.Gly709Ala)
c.2069G>C (p.Gly690Ala)
c.2015G>C (p.Gly672Ala)
c.1808G>C (p.Gly603Ala)
c.2222G>C (p.Gly741Ala)
c.2216G>C (p.Gly739Ala)
c.2213G>C (p.Gly738Ala)
c.2273G>C (p.Gly758Ala)
c.2264G>C (p.Gly755Ala)
c.2183G>C (p.Gly728Ala)
c.2132G>C (p.Gly711Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800421G=CA2128327450NPAS3c.2114G= (p.Gly705=)
c.2123G= (p.Gly708=)
c.2014G=
c.793+2840G=
c.2018G= (p.Gly673=)
c.2075G= (p.Gly692=)
c.2024G= (p.Gly675=)
c.2129G= (p.Gly710=)
c.2036G= (p.Gly679=)
c.2135G= (p.Gly712=)
c.2165G= (p.Gly722=)
c.2156G= (p.Gly719=)
c.2126G= (p.Gly709=)
c.2069G= (p.Gly690=)
c.2015G= (p.Gly672=)
c.1808G= (p.Gly603=)
c.2222G= (p.Gly741=)
c.2216G= (p.Gly739=)
c.2213G= (p.Gly738=)
c.2273G= (p.Gly758=)
c.2264G= (p.Gly755=)
c.2183G= (p.Gly728=)
c.2132G= (p.Gly711=)
14g.33800421G>TCA389413965NPAS3c.2114G>T (p.Gly705Val)
c.2123G>T (p.Gly708Val)
c.2014G>T
c.793+2840G>T
c.2018G>T (p.Gly673Val)
c.2075G>T (p.Gly692Val)
c.2024G>T (p.Gly675Val)
c.2129G>T (p.Gly710Val)
c.2036G>T (p.Gly679Val)
c.2135G>T (p.Gly712Val)
c.2165G>T (p.Gly722Val)
c.2156G>T (p.Gly719Val)
c.2126G>T (p.Gly709Val)
c.2069G>T (p.Gly690Val)
c.2015G>T (p.Gly672Val)
c.1808G>T (p.Gly603Val)
c.2222G>T (p.Gly741Val)
c.2216G>T (p.Gly739Val)
c.2213G>T (p.Gly738Val)
c.2273G>T (p.Gly758Val)
c.2264G>T (p.Gly755Val)
c.2183G>T (p.Gly728Val)
c.2132G>T (p.Gly711Val)

Number of alleles fetched