| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.33800259A= | CA2128327173 | NPAS3 | c.1952A= (p.Glu651=) c.1961A= (p.Glu654=) c.1852A= c.793+2678A= c.1856A= (p.Glu619=) c.1913A= (p.Glu638=) c.1862A= (p.Glu621=) c.1967A= (p.Glu656=) c.1874A= (p.Glu625=) c.1973A= (p.Glu658=) c.2003A= (p.Glu668=) c.1994A= (p.Glu665=) c.1964A= (p.Glu655=) c.1907A= (p.Glu636=) c.1853A= (p.Glu618=) c.1646A= (p.Glu549=) c.2060A= (p.Glu687=) c.2054A= (p.Glu685=) c.2051A= (p.Glu684=) c.2111A= (p.Glu704=) c.2102A= (p.Glu701=) c.2021A= (p.Glu674=) c.1970A= (p.Glu657=) | |
| 14 | g.33800259A>C | CA389413234 | NPAS3 | c.1952A>C (p.Glu651Ala) c.1961A>C (p.Glu654Ala) c.1852A>C c.793+2678A>C c.1856A>C (p.Glu619Ala) c.1913A>C (p.Glu638Ala) c.1862A>C (p.Glu621Ala) c.1967A>C (p.Glu656Ala) c.1874A>C (p.Glu625Ala) c.1973A>C (p.Glu658Ala) c.2003A>C (p.Glu668Ala) c.1994A>C (p.Glu665Ala) c.1964A>C (p.Glu655Ala) c.1907A>C (p.Glu636Ala) c.1853A>C (p.Glu618Ala) c.1646A>C (p.Glu549Ala) c.2060A>C (p.Glu687Ala) c.2054A>C (p.Glu685Ala) c.2051A>C (p.Glu684Ala) c.2111A>C (p.Glu704Ala) c.2102A>C (p.Glu701Ala) c.2021A>C (p.Glu674Ala) c.1970A>C (p.Glu657Ala) | |
| 14 | g.33800259A>G | CA389413236 | NPAS3 | c.1952A>G (p.Glu651Gly) c.1961A>G (p.Glu654Gly) c.1852A>G c.793+2678A>G c.1856A>G (p.Glu619Gly) c.1913A>G (p.Glu638Gly) c.1862A>G (p.Glu621Gly) c.1967A>G (p.Glu656Gly) c.1874A>G (p.Glu625Gly) c.1973A>G (p.Glu658Gly) c.2003A>G (p.Glu668Gly) c.1994A>G (p.Glu665Gly) c.1964A>G (p.Glu655Gly) c.1907A>G (p.Glu636Gly) c.1853A>G (p.Glu618Gly) c.1646A>G (p.Glu549Gly) c.2060A>G (p.Glu687Gly) c.2054A>G (p.Glu685Gly) c.2051A>G (p.Glu684Gly) c.2111A>G (p.Glu704Gly) c.2102A>G (p.Glu701Gly) c.2021A>G (p.Glu674Gly) c.1970A>G (p.Glu657Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800259A>T | CA389413237 | NPAS3 | c.1952A>T (p.Glu651Val) c.1961A>T (p.Glu654Val) c.1852A>T c.793+2678A>T c.1856A>T (p.Glu619Val) c.1913A>T (p.Glu638Val) c.1862A>T (p.Glu621Val) c.1967A>T (p.Glu656Val) c.1874A>T (p.Glu625Val) c.1973A>T (p.Glu658Val) c.2003A>T (p.Glu668Val) c.1994A>T (p.Glu665Val) c.1964A>T (p.Glu655Val) c.1907A>T (p.Glu636Val) c.1853A>T (p.Glu618Val) c.1646A>T (p.Glu549Val) c.2060A>T (p.Glu687Val) c.2054A>T (p.Glu685Val) c.2051A>T (p.Glu684Val) c.2111A>T (p.Glu704Val) c.2102A>T (p.Glu701Val) c.2021A>T (p.Glu674Val) c.1970A>T (p.Glu657Val) | |
| 14 | g.33800260G>A | CA486092978 | NPAS3 | c.1953G>A (p.Glu651=) c.1962G>A (p.Glu654=) c.1853G>A c.793+2679G>A c.1857G>A (p.Glu619=) c.1914G>A (p.Glu638=) c.1863G>A (p.Glu621=) c.1968G>A (p.Glu656=) c.1875G>A (p.Glu625=) c.1974G>A (p.Glu658=) c.2004G>A (p.Glu668=) c.1995G>A (p.Glu665=) c.1965G>A (p.Glu655=) c.1908G>A (p.Glu636=) c.1854G>A (p.Glu618=) c.1647G>A (p.Glu549=) c.2061G>A (p.Glu687=) c.2055G>A (p.Glu685=) c.2052G>A (p.Glu684=) c.2112G>A (p.Glu704=) c.2103G>A (p.Glu701=) c.2022G>A (p.Glu674=) c.1971G>A (p.Glu657=) | dbSNP gnomAD v4 |
| 14 | g.33800260G>C | CA389413239 | NPAS3 | c.1953G>C (p.Glu651Asp) c.1962G>C (p.Glu654Asp) c.1853G>C c.793+2679G>C c.1857G>C (p.Glu619Asp) c.1914G>C (p.Glu638Asp) c.1863G>C (p.Glu621Asp) c.1968G>C (p.Glu656Asp) c.1875G>C (p.Glu625Asp) c.1974G>C (p.Glu658Asp) c.2004G>C (p.Glu668Asp) c.1995G>C (p.Glu665Asp) c.1965G>C (p.Glu655Asp) c.1908G>C (p.Glu636Asp) c.1854G>C (p.Glu618Asp) c.1647G>C (p.Glu549Asp) c.2061G>C (p.Glu687Asp) c.2055G>C (p.Glu685Asp) c.2052G>C (p.Glu684Asp) c.2112G>C (p.Glu704Asp) c.2103G>C (p.Glu701Asp) c.2022G>C (p.Glu674Asp) c.1971G>C (p.Glu657Asp) | COSMIC COSMIC COSMIC |
| 14 | g.33800260G= | CA2128327177 | NPAS3 | c.1953G= (p.Glu651=) c.1962G= (p.Glu654=) c.1853G= c.793+2679G= c.1857G= (p.Glu619=) c.1914G= (p.Glu638=) c.1863G= (p.Glu621=) c.1968G= (p.Glu656=) c.1875G= (p.Glu625=) c.1974G= (p.Glu658=) c.2004G= (p.Glu668=) c.1995G= (p.Glu665=) c.1965G= (p.Glu655=) c.1908G= (p.Glu636=) c.1854G= (p.Glu618=) c.1647G= (p.Glu549=) c.2061G= (p.Glu687=) c.2055G= (p.Glu685=) c.2052G= (p.Glu684=) c.2112G= (p.Glu704=) c.2103G= (p.Glu701=) c.2022G= (p.Glu674=) c.1971G= (p.Glu657=) | |
| 14 | g.33800260G>T | CA389413241 | NPAS3 | c.1953G>T (p.Glu651Asp) c.1962G>T (p.Glu654Asp) c.1853G>T c.793+2679G>T c.1857G>T (p.Glu619Asp) c.1914G>T (p.Glu638Asp) c.1863G>T (p.Glu621Asp) c.1968G>T (p.Glu656Asp) c.1875G>T (p.Glu625Asp) c.1974G>T (p.Glu658Asp) c.2004G>T (p.Glu668Asp) c.1995G>T (p.Glu665Asp) c.1965G>T (p.Glu655Asp) c.1908G>T (p.Glu636Asp) c.1854G>T (p.Glu618Asp) c.1647G>T (p.Glu549Asp) c.2061G>T (p.Glu687Asp) c.2055G>T (p.Glu685Asp) c.2052G>T (p.Glu684Asp) c.2112G>T (p.Glu704Asp) c.2103G>T (p.Glu701Asp) c.2022G>T (p.Glu674Asp) c.1971G>T (p.Glu657Asp) | |
| 14 | g.33800261A= | CA2128327182 | NPAS3 | c.1954A= (p.Ile652=) c.1963A= (p.Ile655=) c.1854A= c.793+2680A= c.1858A= (p.Ile620=) c.1915A= (p.Ile639=) c.1864A= (p.Ile622=) c.1969A= (p.Ile657=) c.1876A= (p.Ile626=) c.1975A= (p.Ile659=) c.2005A= (p.Ile669=) c.1996A= (p.Ile666=) c.1966A= (p.Ile656=) c.1909A= (p.Ile637=) c.1855A= (p.Ile619=) c.1648A= (p.Ile550=) c.2062A= (p.Ile688=) c.2056A= (p.Ile686=) c.2053A= (p.Ile685=) c.2113A= (p.Ile705=) c.2104A= (p.Ile702=) c.2023A= (p.Ile675=) c.1972A= (p.Ile658=) | |
| 14 | g.33800261A>C | CA389413243 | NPAS3 | c.1954A>C (p.Ile652Leu) c.1963A>C (p.Ile655Leu) c.1854A>C c.793+2680A>C c.1858A>C (p.Ile620Leu) c.1915A>C (p.Ile639Leu) c.1864A>C (p.Ile622Leu) c.1969A>C (p.Ile657Leu) c.1876A>C (p.Ile626Leu) c.1975A>C (p.Ile659Leu) c.2005A>C (p.Ile669Leu) c.1996A>C (p.Ile666Leu) c.1966A>C (p.Ile656Leu) c.1909A>C (p.Ile637Leu) c.1855A>C (p.Ile619Leu) c.1648A>C (p.Ile550Leu) c.2062A>C (p.Ile688Leu) c.2056A>C (p.Ile686Leu) c.2053A>C (p.Ile685Leu) c.2113A>C (p.Ile705Leu) c.2104A>C (p.Ile702Leu) c.2023A>C (p.Ile675Leu) c.1972A>C (p.Ile658Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800261A>G | CA389413245 | NPAS3 | c.1954A>G (p.Ile652Val) c.1963A>G (p.Ile655Val) c.1854A>G c.793+2680A>G c.1858A>G (p.Ile620Val) c.1915A>G (p.Ile639Val) c.1864A>G (p.Ile622Val) c.1969A>G (p.Ile657Val) c.1876A>G (p.Ile626Val) c.1975A>G (p.Ile659Val) c.2005A>G (p.Ile669Val) c.1996A>G (p.Ile666Val) c.1966A>G (p.Ile656Val) c.1909A>G (p.Ile637Val) c.1855A>G (p.Ile619Val) c.1648A>G (p.Ile550Val) c.2062A>G (p.Ile688Val) c.2056A>G (p.Ile686Val) c.2053A>G (p.Ile685Val) c.2113A>G (p.Ile705Val) c.2104A>G (p.Ile702Val) c.2023A>G (p.Ile675Val) c.1972A>G (p.Ile658Val) | |
| 14 | g.33800261A>T | CA7150918 | NPAS3 | c.1954A>T (p.Ile652Phe) c.1963A>T (p.Ile655Phe) c.1854A>T c.793+2680A>T c.1858A>T (p.Ile620Phe) c.1915A>T (p.Ile639Phe) c.1864A>T (p.Ile622Phe) c.1969A>T (p.Ile657Phe) c.1876A>T (p.Ile626Phe) c.1975A>T (p.Ile659Phe) c.2005A>T (p.Ile669Phe) c.1996A>T (p.Ile666Phe) c.1966A>T (p.Ile656Phe) c.1909A>T (p.Ile637Phe) c.1855A>T (p.Ile619Phe) c.1648A>T (p.Ile550Phe) c.2062A>T (p.Ile688Phe) c.2056A>T (p.Ile686Phe) c.2053A>T (p.Ile685Phe) c.2113A>T (p.Ile705Phe) c.2104A>T (p.Ile702Phe) c.2023A>T (p.Ile675Phe) c.1972A>T (p.Ile658Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800262T>A | CA389413247 | NPAS3 | c.1955T>A (p.Ile652Asn) c.1964T>A (p.Ile655Asn) c.1855T>A c.793+2681T>A c.1859T>A (p.Ile620Asn) c.1916T>A (p.Ile639Asn) c.1865T>A (p.Ile622Asn) c.1970T>A (p.Ile657Asn) c.1877T>A (p.Ile626Asn) c.1976T>A (p.Ile659Asn) c.2006T>A (p.Ile669Asn) c.1997T>A (p.Ile666Asn) c.1967T>A (p.Ile656Asn) c.1910T>A (p.Ile637Asn) c.1856T>A (p.Ile619Asn) c.1649T>A (p.Ile550Asn) c.2063T>A (p.Ile688Asn) c.2057T>A (p.Ile686Asn) c.2054T>A (p.Ile685Asn) c.2114T>A (p.Ile705Asn) c.2105T>A (p.Ile702Asn) c.2024T>A (p.Ile675Asn) c.1973T>A (p.Ile658Asn) | |
| 14 | g.33800262T>C | CA389413249 | NPAS3 | c.1955T>C (p.Ile652Thr) c.1964T>C (p.Ile655Thr) c.1855T>C c.793+2681T>C c.1859T>C (p.Ile620Thr) c.1916T>C (p.Ile639Thr) c.1865T>C (p.Ile622Thr) c.1970T>C (p.Ile657Thr) c.1877T>C (p.Ile626Thr) c.1976T>C (p.Ile659Thr) c.2006T>C (p.Ile669Thr) c.1997T>C (p.Ile666Thr) c.1967T>C (p.Ile656Thr) c.1910T>C (p.Ile637Thr) c.1856T>C (p.Ile619Thr) c.1649T>C (p.Ile550Thr) c.2063T>C (p.Ile688Thr) c.2057T>C (p.Ile686Thr) c.2054T>C (p.Ile685Thr) c.2114T>C (p.Ile705Thr) c.2105T>C (p.Ile702Thr) c.2024T>C (p.Ile675Thr) c.1973T>C (p.Ile658Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800262T>G | CA389413251 | NPAS3 | c.1955T>G (p.Ile652Ser) c.1964T>G (p.Ile655Ser) c.1855T>G c.793+2681T>G c.1859T>G (p.Ile620Ser) c.1916T>G (p.Ile639Ser) c.1865T>G (p.Ile622Ser) c.1970T>G (p.Ile657Ser) c.1877T>G (p.Ile626Ser) c.1976T>G (p.Ile659Ser) c.2006T>G (p.Ile669Ser) c.1997T>G (p.Ile666Ser) c.1967T>G (p.Ile656Ser) c.1910T>G (p.Ile637Ser) c.1856T>G (p.Ile619Ser) c.1649T>G (p.Ile550Ser) c.2063T>G (p.Ile688Ser) c.2057T>G (p.Ile686Ser) c.2054T>G (p.Ile685Ser) c.2114T>G (p.Ile705Ser) c.2105T>G (p.Ile702Ser) c.2024T>G (p.Ile675Ser) c.1973T>G (p.Ile658Ser) | |
| 14 | g.33800262T= | CA2128327187 | NPAS3 | c.1955T= (p.Ile652=) c.1964T= (p.Ile655=) c.1855T= c.793+2681T= c.1859T= (p.Ile620=) c.1916T= (p.Ile639=) c.1865T= (p.Ile622=) c.1970T= (p.Ile657=) c.1877T= (p.Ile626=) c.1976T= (p.Ile659=) c.2006T= (p.Ile669=) c.1997T= (p.Ile666=) c.1967T= (p.Ile656=) c.1910T= (p.Ile637=) c.1856T= (p.Ile619=) c.1649T= (p.Ile550=) c.2063T= (p.Ile688=) c.2057T= (p.Ile686=) c.2054T= (p.Ile685=) c.2114T= (p.Ile705=) c.2105T= (p.Ile702=) c.2024T= (p.Ile675=) c.1973T= (p.Ile658=) | |
| 14 | g.33800263C>A | CA486092983 | NPAS3 | c.1956C>A (p.Ile652=) c.1965C>A (p.Ile655=) c.1856C>A c.793+2682C>A c.1860C>A (p.Ile620=) c.1917C>A (p.Ile639=) c.1866C>A (p.Ile622=) c.1971C>A (p.Ile657=) c.1878C>A (p.Ile626=) c.1977C>A (p.Ile659=) c.2007C>A (p.Ile669=) c.1998C>A (p.Ile666=) c.1968C>A (p.Ile656=) c.1911C>A (p.Ile637=) c.1857C>A (p.Ile619=) c.1650C>A (p.Ile550=) c.2064C>A (p.Ile688=) c.2058C>A (p.Ile686=) c.2055C>A (p.Ile685=) c.2115C>A (p.Ile705=) c.2106C>A (p.Ile702=) c.2025C>A (p.Ile675=) c.1974C>A (p.Ile658=) | gnomAD v4 |
| 14 | g.33800263C>G | CA389413253 | NPAS3 | c.1956C>G (p.Ile652Met) c.1965C>G (p.Ile655Met) c.1856C>G c.793+2682C>G c.1860C>G (p.Ile620Met) c.1917C>G (p.Ile639Met) c.1866C>G (p.Ile622Met) c.1971C>G (p.Ile657Met) c.1878C>G (p.Ile626Met) c.1977C>G (p.Ile659Met) c.2007C>G (p.Ile669Met) c.1998C>G (p.Ile666Met) c.1968C>G (p.Ile656Met) c.1911C>G (p.Ile637Met) c.1857C>G (p.Ile619Met) c.1650C>G (p.Ile550Met) c.2064C>G (p.Ile688Met) c.2058C>G (p.Ile686Met) c.2055C>G (p.Ile685Met) c.2115C>G (p.Ile705Met) c.2106C>G (p.Ile702Met) c.2025C>G (p.Ile675Met) c.1974C>G (p.Ile658Met) | |
| 14 | g.33800263C>T | CA486092981 | NPAS3 | c.1956C>T (p.Ile652=) c.1965C>T (p.Ile655=) c.1856C>T c.793+2682C>T c.1860C>T (p.Ile620=) c.1917C>T (p.Ile639=) c.1866C>T (p.Ile622=) c.1971C>T (p.Ile657=) c.1878C>T (p.Ile626=) c.1977C>T (p.Ile659=) c.2007C>T (p.Ile669=) c.1998C>T (p.Ile666=) c.1968C>T (p.Ile656=) c.1911C>T (p.Ile637=) c.1857C>T (p.Ile619=) c.1650C>T (p.Ile550=) c.2064C>T (p.Ile688=) c.2058C>T (p.Ile686=) c.2055C>T (p.Ile685=) c.2115C>T (p.Ile705=) c.2106C>T (p.Ile702=) c.2025C>T (p.Ile675=) c.1974C>T (p.Ile658=) | gnomAD v4 |
| 14 | g.33800264T>A | CA389413256 | NPAS3 | c.1957T>A (p.Ser653Thr) c.1966T>A (p.Ser656Thr) c.1857T>A c.793+2683T>A c.1861T>A (p.Ser621Thr) c.1918T>A (p.Ser640Thr) c.1867T>A (p.Ser623Thr) c.1972T>A (p.Ser658Thr) c.1879T>A (p.Ser627Thr) c.1978T>A (p.Ser660Thr) c.2008T>A (p.Ser670Thr) c.1999T>A (p.Ser667Thr) c.1969T>A (p.Ser657Thr) c.1912T>A (p.Ser638Thr) c.1858T>A (p.Ser620Thr) c.1651T>A (p.Ser551Thr) c.2065T>A (p.Ser689Thr) c.2059T>A (p.Ser687Thr) c.2056T>A (p.Ser686Thr) c.2116T>A (p.Ser706Thr) c.2107T>A (p.Ser703Thr) c.2026T>A (p.Ser676Thr) c.1975T>A (p.Ser659Thr) | |
| 14 | g.33800264T>C | CA389413257 | NPAS3 | c.1957T>C (p.Ser653Pro) c.1966T>C (p.Ser656Pro) c.1857T>C c.793+2683T>C c.1861T>C (p.Ser621Pro) c.1918T>C (p.Ser640Pro) c.1867T>C (p.Ser623Pro) c.1972T>C (p.Ser658Pro) c.1879T>C (p.Ser627Pro) c.1978T>C (p.Ser660Pro) c.2008T>C (p.Ser670Pro) c.1999T>C (p.Ser667Pro) c.1969T>C (p.Ser657Pro) c.1912T>C (p.Ser638Pro) c.1858T>C (p.Ser620Pro) c.1651T>C (p.Ser551Pro) c.2065T>C (p.Ser689Pro) c.2059T>C (p.Ser687Pro) c.2056T>C (p.Ser686Pro) c.2116T>C (p.Ser706Pro) c.2107T>C (p.Ser703Pro) c.2026T>C (p.Ser676Pro) c.1975T>C (p.Ser659Pro) | |
| 14 | g.33800264T>G | CA389413259 | NPAS3 | c.1957T>G (p.Ser653Ala) c.1966T>G (p.Ser656Ala) c.1857T>G c.793+2683T>G c.1861T>G (p.Ser621Ala) c.1918T>G (p.Ser640Ala) c.1867T>G (p.Ser623Ala) c.1972T>G (p.Ser658Ala) c.1879T>G (p.Ser627Ala) c.1978T>G (p.Ser660Ala) c.2008T>G (p.Ser670Ala) c.1999T>G (p.Ser667Ala) c.1969T>G (p.Ser657Ala) c.1912T>G (p.Ser638Ala) c.1858T>G (p.Ser620Ala) c.1651T>G (p.Ser551Ala) c.2065T>G (p.Ser689Ala) c.2059T>G (p.Ser687Ala) c.2056T>G (p.Ser686Ala) c.2116T>G (p.Ser706Ala) c.2107T>G (p.Ser703Ala) c.2026T>G (p.Ser676Ala) c.1975T>G (p.Ser659Ala) | |
| 14 | g.33800265C>A | CA389413262 | NPAS3 | c.1958C>A (p.Ser653Ter) c.1967C>A (p.Ser656Ter) c.1858C>A c.793+2684C>A c.1862C>A (p.Ser621Ter) c.1919C>A (p.Ser640Ter) c.1868C>A (p.Ser623Ter) c.1973C>A (p.Ser658Ter) c.1880C>A (p.Ser627Ter) c.1979C>A (p.Ser660Ter) c.2009C>A (p.Ser670Ter) c.2000C>A (p.Ser667Ter) c.1970C>A (p.Ser657Ter) c.1913C>A (p.Ser638Ter) c.1859C>A (p.Ser620Ter) c.1652C>A (p.Ser551Ter) c.2066C>A (p.Ser689Ter) c.2060C>A (p.Ser687Ter) c.2057C>A (p.Ser686Ter) c.2117C>A (p.Ser706Ter) c.2108C>A (p.Ser703Ter) c.2027C>A (p.Ser676Ter) c.1976C>A (p.Ser659Ter) | |
| 14 | g.33800265C>G | CA389413264 | NPAS3 | c.1958C>G (p.Ser653Ter) c.1967C>G (p.Ser656Ter) c.1858C>G c.793+2684C>G c.1862C>G (p.Ser621Ter) c.1919C>G (p.Ser640Ter) c.1868C>G (p.Ser623Ter) c.1973C>G (p.Ser658Ter) c.1880C>G (p.Ser627Ter) c.1979C>G (p.Ser660Ter) c.2009C>G (p.Ser670Ter) c.2000C>G (p.Ser667Ter) c.1970C>G (p.Ser657Ter) c.1913C>G (p.Ser638Ter) c.1859C>G (p.Ser620Ter) c.1652C>G (p.Ser551Ter) c.2066C>G (p.Ser689Ter) c.2060C>G (p.Ser687Ter) c.2057C>G (p.Ser686Ter) c.2117C>G (p.Ser706Ter) c.2108C>G (p.Ser703Ter) c.2027C>G (p.Ser676Ter) c.1976C>G (p.Ser659Ter) | |
| 14 | g.33800265C>T | CA389413266 | NPAS3 | c.1958C>T (p.Ser653Leu) c.1967C>T (p.Ser656Leu) c.1858C>T c.793+2684C>T c.1862C>T (p.Ser621Leu) c.1919C>T (p.Ser640Leu) c.1868C>T (p.Ser623Leu) c.1973C>T (p.Ser658Leu) c.1880C>T (p.Ser627Leu) c.1979C>T (p.Ser660Leu) c.2009C>T (p.Ser670Leu) c.2000C>T (p.Ser667Leu) c.1970C>T (p.Ser657Leu) c.1913C>T (p.Ser638Leu) c.1859C>T (p.Ser620Leu) c.1652C>T (p.Ser551Leu) c.2066C>T (p.Ser689Leu) c.2060C>T (p.Ser687Leu) c.2057C>T (p.Ser686Leu) c.2117C>T (p.Ser706Leu) c.2108C>T (p.Ser703Leu) c.2027C>T (p.Ser676Leu) c.1976C>T (p.Ser659Leu) | |
| 14 | g.33800266A>C | CA486092985 | NPAS3 | c.1959A>C (p.Ser653=) c.1968A>C (p.Ser656=) c.1859A>C c.793+2685A>C c.1863A>C (p.Ser621=) c.1920A>C (p.Ser640=) c.1869A>C (p.Ser623=) c.1974A>C (p.Ser658=) c.1881A>C (p.Ser627=) c.1980A>C (p.Ser660=) c.2010A>C (p.Ser670=) c.2001A>C (p.Ser667=) c.1971A>C (p.Ser657=) c.1914A>C (p.Ser638=) c.1860A>C (p.Ser620=) c.1653A>C (p.Ser551=) c.2067A>C (p.Ser689=) c.2061A>C (p.Ser687=) c.2058A>C (p.Ser686=) c.2118A>C (p.Ser706=) c.2109A>C (p.Ser703=) c.2028A>C (p.Ser676=) c.1977A>C (p.Ser659=) | |
| 14 | g.33800266A>G | CA486092987 | NPAS3 | c.1959A>G (p.Ser653=) c.1968A>G (p.Ser656=) c.1859A>G c.793+2685A>G c.1863A>G (p.Ser621=) c.1920A>G (p.Ser640=) c.1869A>G (p.Ser623=) c.1974A>G (p.Ser658=) c.1881A>G (p.Ser627=) c.1980A>G (p.Ser660=) c.2010A>G (p.Ser670=) c.2001A>G (p.Ser667=) c.1971A>G (p.Ser657=) c.1914A>G (p.Ser638=) c.1860A>G (p.Ser620=) c.1653A>G (p.Ser551=) c.2067A>G (p.Ser689=) c.2061A>G (p.Ser687=) c.2058A>G (p.Ser686=) c.2118A>G (p.Ser706=) c.2109A>G (p.Ser703=) c.2028A>G (p.Ser676=) c.1977A>G (p.Ser659=) | dbSNP |
| 14 | g.33800266A>T | CA486092986 | NPAS3 | c.1959A>T (p.Ser653=) c.1968A>T (p.Ser656=) c.1859A>T c.793+2685A>T c.1863A>T (p.Ser621=) c.1920A>T (p.Ser640=) c.1869A>T (p.Ser623=) c.1974A>T (p.Ser658=) c.1881A>T (p.Ser627=) c.1980A>T (p.Ser660=) c.2010A>T (p.Ser670=) c.2001A>T (p.Ser667=) c.1971A>T (p.Ser657=) c.1914A>T (p.Ser638=) c.1860A>T (p.Ser620=) c.1653A>T (p.Ser551=) c.2067A>T (p.Ser689=) c.2061A>T (p.Ser687=) c.2058A>T (p.Ser686=) c.2118A>T (p.Ser706=) c.2109A>T (p.Ser703=) c.2028A>T (p.Ser676=) c.1977A>T (p.Ser659=) | |
| 14 | g.33800267G>A | CA7150919 | NPAS3 | c.1960G>A (p.Glu654Lys) c.1969G>A (p.Glu657Lys) c.1860G>A c.793+2686G>A c.1864G>A (p.Glu622Lys) c.1921G>A (p.Glu641Lys) c.1870G>A (p.Glu624Lys) c.1975G>A (p.Glu659Lys) c.1882G>A (p.Glu628Lys) c.1981G>A (p.Glu661Lys) c.2011G>A (p.Glu671Lys) c.2002G>A (p.Glu668Lys) c.1972G>A (p.Glu658Lys) c.1915G>A (p.Glu639Lys) c.1861G>A (p.Glu621Lys) c.1654G>A (p.Glu552Lys) c.2068G>A (p.Glu690Lys) c.2062G>A (p.Glu688Lys) c.2059G>A (p.Glu687Lys) c.2119G>A (p.Glu707Lys) c.2110G>A (p.Glu704Lys) c.2029G>A (p.Glu677Lys) c.1978G>A (p.Glu660Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800267G>C | CA389413270 | NPAS3 | c.1960G>C (p.Glu654Gln) c.1969G>C (p.Glu657Gln) c.1860G>C c.793+2686G>C c.1864G>C (p.Glu622Gln) c.1921G>C (p.Glu641Gln) c.1870G>C (p.Glu624Gln) c.1975G>C (p.Glu659Gln) c.1882G>C (p.Glu628Gln) c.1981G>C (p.Glu661Gln) c.2011G>C (p.Glu671Gln) c.2002G>C (p.Glu668Gln) c.1972G>C (p.Glu658Gln) c.1915G>C (p.Glu639Gln) c.1861G>C (p.Glu621Gln) c.1654G>C (p.Glu552Gln) c.2068G>C (p.Glu690Gln) c.2062G>C (p.Glu688Gln) c.2059G>C (p.Glu687Gln) c.2119G>C (p.Glu707Gln) c.2110G>C (p.Glu704Gln) c.2029G>C (p.Glu677Gln) c.1978G>C (p.Glu660Gln) | |
| 14 | g.33800267G= | CA2128327192 | NPAS3 | c.1960G= (p.Glu654=) c.1969G= (p.Glu657=) c.1860G= c.793+2686G= c.1864G= (p.Glu622=) c.1921G= (p.Glu641=) c.1870G= (p.Glu624=) c.1975G= (p.Glu659=) c.1882G= (p.Glu628=) c.1981G= (p.Glu661=) c.2011G= (p.Glu671=) c.2002G= (p.Glu668=) c.1972G= (p.Glu658=) c.1915G= (p.Glu639=) c.1861G= (p.Glu621=) c.1654G= (p.Glu552=) c.2068G= (p.Glu690=) c.2062G= (p.Glu688=) c.2059G= (p.Glu687=) c.2119G= (p.Glu707=) c.2110G= (p.Glu704=) c.2029G= (p.Glu677=) c.1978G= (p.Glu660=) | |
| 14 | g.33800267G>T | CA389413268 | NPAS3 | c.1960G>T (p.Glu654Ter) c.1969G>T (p.Glu657Ter) c.1860G>T c.793+2686G>T c.1864G>T (p.Glu622Ter) c.1921G>T (p.Glu641Ter) c.1870G>T (p.Glu624Ter) c.1975G>T (p.Glu659Ter) c.1882G>T (p.Glu628Ter) c.1981G>T (p.Glu661Ter) c.2011G>T (p.Glu671Ter) c.2002G>T (p.Glu668Ter) c.1972G>T (p.Glu658Ter) c.1915G>T (p.Glu639Ter) c.1861G>T (p.Glu621Ter) c.1654G>T (p.Glu552Ter) c.2068G>T (p.Glu690Ter) c.2062G>T (p.Glu688Ter) c.2059G>T (p.Glu687Ter) c.2119G>T (p.Glu707Ter) c.2110G>T (p.Glu704Ter) c.2029G>T (p.Glu677Ter) c.1978G>T (p.Glu660Ter) | |
| 14 | g.33800268A= | CA2128327194 | NPAS3 | c.1961A= (p.Glu654=) c.1970A= (p.Glu657=) c.1861A= c.793+2687A= c.1865A= (p.Glu622=) c.1922A= (p.Glu641=) c.1871A= (p.Glu624=) c.1976A= (p.Glu659=) c.1883A= (p.Glu628=) c.1982A= (p.Glu661=) c.2012A= (p.Glu671=) c.2003A= (p.Glu668=) c.1973A= (p.Glu658=) c.1916A= (p.Glu639=) c.1862A= (p.Glu621=) c.1655A= (p.Glu552=) c.2069A= (p.Glu690=) c.2063A= (p.Glu688=) c.2060A= (p.Glu687=) c.2120A= (p.Glu707=) c.2111A= (p.Glu704=) c.2030A= (p.Glu677=) c.1979A= (p.Glu660=) | |
| 14 | g.33800268A>C | CA389413274 | NPAS3 | c.1961A>C (p.Glu654Ala) c.1970A>C (p.Glu657Ala) c.1861A>C c.793+2687A>C c.1865A>C (p.Glu622Ala) c.1922A>C (p.Glu641Ala) c.1871A>C (p.Glu624Ala) c.1976A>C (p.Glu659Ala) c.1883A>C (p.Glu628Ala) c.1982A>C (p.Glu661Ala) c.2012A>C (p.Glu671Ala) c.2003A>C (p.Glu668Ala) c.1973A>C (p.Glu658Ala) c.1916A>C (p.Glu639Ala) c.1862A>C (p.Glu621Ala) c.1655A>C (p.Glu552Ala) c.2069A>C (p.Glu690Ala) c.2063A>C (p.Glu688Ala) c.2060A>C (p.Glu687Ala) c.2120A>C (p.Glu707Ala) c.2111A>C (p.Glu704Ala) c.2030A>C (p.Glu677Ala) c.1979A>C (p.Glu660Ala) | |
| 14 | g.33800268A>G | CA258718985 | NPAS3 | c.1961A>G (p.Glu654Gly) c.1970A>G (p.Glu657Gly) c.1861A>G c.793+2687A>G c.1865A>G (p.Glu622Gly) c.1922A>G (p.Glu641Gly) c.1871A>G (p.Glu624Gly) c.1976A>G (p.Glu659Gly) c.1883A>G (p.Glu628Gly) c.1982A>G (p.Glu661Gly) c.2012A>G (p.Glu671Gly) c.2003A>G (p.Glu668Gly) c.1973A>G (p.Glu658Gly) c.1916A>G (p.Glu639Gly) c.1862A>G (p.Glu621Gly) c.1655A>G (p.Glu552Gly) c.2069A>G (p.Glu690Gly) c.2063A>G (p.Glu688Gly) c.2060A>G (p.Glu687Gly) c.2120A>G (p.Glu707Gly) c.2111A>G (p.Glu704Gly) c.2030A>G (p.Glu677Gly) c.1979A>G (p.Glu660Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800268A>T | CA389413277 | NPAS3 | c.1961A>T (p.Glu654Val) c.1970A>T (p.Glu657Val) c.1861A>T c.793+2687A>T c.1865A>T (p.Glu622Val) c.1922A>T (p.Glu641Val) c.1871A>T (p.Glu624Val) c.1976A>T (p.Glu659Val) c.1883A>T (p.Glu628Val) c.1982A>T (p.Glu661Val) c.2012A>T (p.Glu671Val) c.2003A>T (p.Glu668Val) c.1973A>T (p.Glu658Val) c.1916A>T (p.Glu639Val) c.1862A>T (p.Glu621Val) c.1655A>T (p.Glu552Val) c.2069A>T (p.Glu690Val) c.2063A>T (p.Glu688Val) c.2060A>T (p.Glu687Val) c.2120A>T (p.Glu707Val) c.2111A>T (p.Glu704Val) c.2030A>T (p.Glu677Val) c.1979A>T (p.Glu660Val) | |
| 14 | g.33800269A= | CA2128327197 | NPAS3 | c.1962A= (p.Glu654=) c.1971A= (p.Glu657=) c.1862A= c.793+2688A= c.1866A= (p.Glu622=) c.1923A= (p.Glu641=) c.1872A= (p.Glu624=) c.1977A= (p.Glu659=) c.1884A= (p.Glu628=) c.1983A= (p.Glu661=) c.2013A= (p.Glu671=) c.2004A= (p.Glu668=) c.1974A= (p.Glu658=) c.1917A= (p.Glu639=) c.1863A= (p.Glu621=) c.1656A= (p.Glu552=) c.2070A= (p.Glu690=) c.2064A= (p.Glu688=) c.2061A= (p.Glu687=) c.2121A= (p.Glu707=) c.2112A= (p.Glu704=) c.2031A= (p.Glu677=) c.1980A= (p.Glu660=) | |
| 14 | g.33800269A>C | CA389413279 | NPAS3 | c.1962A>C (p.Glu654Asp) c.1971A>C (p.Glu657Asp) c.1862A>C c.793+2688A>C c.1866A>C (p.Glu622Asp) c.1923A>C (p.Glu641Asp) c.1872A>C (p.Glu624Asp) c.1977A>C (p.Glu659Asp) c.1884A>C (p.Glu628Asp) c.1983A>C (p.Glu661Asp) c.2013A>C (p.Glu671Asp) c.2004A>C (p.Glu668Asp) c.1974A>C (p.Glu658Asp) c.1917A>C (p.Glu639Asp) c.1863A>C (p.Glu621Asp) c.1656A>C (p.Glu552Asp) c.2070A>C (p.Glu690Asp) c.2064A>C (p.Glu688Asp) c.2061A>C (p.Glu687Asp) c.2121A>C (p.Glu707Asp) c.2112A>C (p.Glu704Asp) c.2031A>C (p.Glu677Asp) c.1980A>C (p.Glu660Asp) | |
| 14 | g.33800269A>G | CA486092993 | NPAS3 | c.1962A>G (p.Glu654=) c.1971A>G (p.Glu657=) c.1862A>G c.793+2688A>G c.1866A>G (p.Glu622=) c.1923A>G (p.Glu641=) c.1872A>G (p.Glu624=) c.1977A>G (p.Glu659=) c.1884A>G (p.Glu628=) c.1983A>G (p.Glu661=) c.2013A>G (p.Glu671=) c.2004A>G (p.Glu668=) c.1974A>G (p.Glu658=) c.1917A>G (p.Glu639=) c.1863A>G (p.Glu621=) c.1656A>G (p.Glu552=) c.2070A>G (p.Glu690=) c.2064A>G (p.Glu688=) c.2061A>G (p.Glu687=) c.2121A>G (p.Glu707=) c.2112A>G (p.Glu704=) c.2031A>G (p.Glu677=) c.1980A>G (p.Glu660=) | |
| 14 | g.33800269A>T | CA389413281 | NPAS3 | c.1962A>T (p.Glu654Asp) c.1971A>T (p.Glu657Asp) c.1862A>T c.793+2688A>T c.1866A>T (p.Glu622Asp) c.1923A>T (p.Glu641Asp) c.1872A>T (p.Glu624Asp) c.1977A>T (p.Glu659Asp) c.1884A>T (p.Glu628Asp) c.1983A>T (p.Glu661Asp) c.2013A>T (p.Glu671Asp) c.2004A>T (p.Glu668Asp) c.1974A>T (p.Glu658Asp) c.1917A>T (p.Glu639Asp) c.1863A>T (p.Glu621Asp) c.1656A>T (p.Glu552Asp) c.2070A>T (p.Glu690Asp) c.2064A>T (p.Glu688Asp) c.2061A>T (p.Glu687Asp) c.2121A>T (p.Glu707Asp) c.2112A>T (p.Glu704Asp) c.2031A>T (p.Glu677Asp) c.1980A>T (p.Glu660Asp) | dbSNP gnomAD v4 |
| 14 | g.33800270C>A | CA389413283 | NPAS3 | c.1963C>A (p.Pro655Thr) c.1972C>A (p.Pro658Thr) c.1863C>A c.793+2689C>A c.1867C>A (p.Pro623Thr) c.1924C>A (p.Pro642Thr) c.1873C>A (p.Pro625Thr) c.1978C>A (p.Pro660Thr) c.1885C>A (p.Pro629Thr) c.1984C>A (p.Pro662Thr) c.2014C>A (p.Pro672Thr) c.2005C>A (p.Pro669Thr) c.1975C>A (p.Pro659Thr) c.1918C>A (p.Pro640Thr) c.1864C>A (p.Pro622Thr) c.1657C>A (p.Pro553Thr) c.2071C>A (p.Pro691Thr) c.2065C>A (p.Pro689Thr) c.2062C>A (p.Pro688Thr) c.2122C>A (p.Pro708Thr) c.2113C>A (p.Pro705Thr) c.2032C>A (p.Pro678Thr) c.1981C>A (p.Pro661Thr) | |
| 14 | g.33800270C= | CA2128327199 | NPAS3 | c.1963C= (p.Pro655=) c.1972C= (p.Pro658=) c.1863C= c.793+2689C= c.1867C= (p.Pro623=) c.1924C= (p.Pro642=) c.1873C= (p.Pro625=) c.1978C= (p.Pro660=) c.1885C= (p.Pro629=) c.1984C= (p.Pro662=) c.2014C= (p.Pro672=) c.2005C= (p.Pro669=) c.1975C= (p.Pro659=) c.1918C= (p.Pro640=) c.1864C= (p.Pro622=) c.1657C= (p.Pro553=) c.2071C= (p.Pro691=) c.2065C= (p.Pro689=) c.2062C= (p.Pro688=) c.2122C= (p.Pro708=) c.2113C= (p.Pro705=) c.2032C= (p.Pro678=) c.1981C= (p.Pro661=) | |
| 14 | g.33800270C>G | CA389413285 | NPAS3 | c.1963C>G (p.Pro655Ala) c.1972C>G (p.Pro658Ala) c.1863C>G c.793+2689C>G c.1867C>G (p.Pro623Ala) c.1924C>G (p.Pro642Ala) c.1873C>G (p.Pro625Ala) c.1978C>G (p.Pro660Ala) c.1885C>G (p.Pro629Ala) c.1984C>G (p.Pro662Ala) c.2014C>G (p.Pro672Ala) c.2005C>G (p.Pro669Ala) c.1975C>G (p.Pro659Ala) c.1918C>G (p.Pro640Ala) c.1864C>G (p.Pro622Ala) c.1657C>G (p.Pro553Ala) c.2071C>G (p.Pro691Ala) c.2065C>G (p.Pro689Ala) c.2062C>G (p.Pro688Ala) c.2122C>G (p.Pro708Ala) c.2113C>G (p.Pro705Ala) c.2032C>G (p.Pro678Ala) c.1981C>G (p.Pro661Ala) | |
| 14 | g.33800270C>T | CA389413286 | NPAS3 | c.1963C>T (p.Pro655Ser) c.1972C>T (p.Pro658Ser) c.1863C>T c.793+2689C>T c.1867C>T (p.Pro623Ser) c.1924C>T (p.Pro642Ser) c.1873C>T (p.Pro625Ser) c.1978C>T (p.Pro660Ser) c.1885C>T (p.Pro629Ser) c.1984C>T (p.Pro662Ser) c.2014C>T (p.Pro672Ser) c.2005C>T (p.Pro669Ser) c.1975C>T (p.Pro659Ser) c.1918C>T (p.Pro640Ser) c.1864C>T (p.Pro622Ser) c.1657C>T (p.Pro553Ser) c.2071C>T (p.Pro691Ser) c.2065C>T (p.Pro689Ser) c.2062C>T (p.Pro688Ser) c.2122C>T (p.Pro708Ser) c.2113C>T (p.Pro705Ser) c.2032C>T (p.Pro678Ser) c.1981C>T (p.Pro661Ser) | dbSNP gnomAD v4 |
| 14 | g.33800271C>A | CA389413292 | NPAS3 | c.1964C>A (p.Pro655His) c.1973C>A (p.Pro658His) c.1864C>A c.793+2690C>A c.1868C>A (p.Pro623His) c.1925C>A (p.Pro642His) c.1874C>A (p.Pro625His) c.1979C>A (p.Pro660His) c.1886C>A (p.Pro629His) c.1985C>A (p.Pro662His) c.2015C>A (p.Pro672His) c.2006C>A (p.Pro669His) c.1976C>A (p.Pro659His) c.1919C>A (p.Pro640His) c.1865C>A (p.Pro622His) c.1658C>A (p.Pro553His) c.2072C>A (p.Pro691His) c.2066C>A (p.Pro689His) c.2063C>A (p.Pro688His) c.2123C>A (p.Pro708His) c.2114C>A (p.Pro705His) c.2033C>A (p.Pro678His) c.1982C>A (p.Pro661His) | |
| 14 | g.33800271C= | CA2128327201 | NPAS3 | c.1964C= (p.Pro655=) c.1973C= (p.Pro658=) c.1864C= c.793+2690C= c.1868C= (p.Pro623=) c.1925C= (p.Pro642=) c.1874C= (p.Pro625=) c.1979C= (p.Pro660=) c.1886C= (p.Pro629=) c.1985C= (p.Pro662=) c.2015C= (p.Pro672=) c.2006C= (p.Pro669=) c.1976C= (p.Pro659=) c.1919C= (p.Pro640=) c.1865C= (p.Pro622=) c.1658C= (p.Pro553=) c.2072C= (p.Pro691=) c.2066C= (p.Pro689=) c.2063C= (p.Pro688=) c.2123C= (p.Pro708=) c.2114C= (p.Pro705=) c.2033C= (p.Pro678=) c.1982C= (p.Pro661=) | |
| 14 | g.33800271C>G | CA389413293 | NPAS3 | c.1964C>G (p.Pro655Arg) c.1973C>G (p.Pro658Arg) c.1864C>G c.793+2690C>G c.1868C>G (p.Pro623Arg) c.1925C>G (p.Pro642Arg) c.1874C>G (p.Pro625Arg) c.1979C>G (p.Pro660Arg) c.1886C>G (p.Pro629Arg) c.1985C>G (p.Pro662Arg) c.2015C>G (p.Pro672Arg) c.2006C>G (p.Pro669Arg) c.1976C>G (p.Pro659Arg) c.1919C>G (p.Pro640Arg) c.1865C>G (p.Pro622Arg) c.1658C>G (p.Pro553Arg) c.2072C>G (p.Pro691Arg) c.2066C>G (p.Pro689Arg) c.2063C>G (p.Pro688Arg) c.2123C>G (p.Pro708Arg) c.2114C>G (p.Pro705Arg) c.2033C>G (p.Pro678Arg) c.1982C>G (p.Pro661Arg) | dbSNP |
| 14 | g.33800271C>T | CA389413295 | NPAS3 | c.1964C>T (p.Pro655Leu) c.1973C>T (p.Pro658Leu) c.1864C>T c.793+2690C>T c.1868C>T (p.Pro623Leu) c.1925C>T (p.Pro642Leu) c.1874C>T (p.Pro625Leu) c.1979C>T (p.Pro660Leu) c.1886C>T (p.Pro629Leu) c.1985C>T (p.Pro662Leu) c.2015C>T (p.Pro672Leu) c.2006C>T (p.Pro669Leu) c.1976C>T (p.Pro659Leu) c.1919C>T (p.Pro640Leu) c.1865C>T (p.Pro622Leu) c.1658C>T (p.Pro553Leu) c.2072C>T (p.Pro691Leu) c.2066C>T (p.Pro689Leu) c.2063C>T (p.Pro688Leu) c.2123C>T (p.Pro708Leu) c.2114C>T (p.Pro705Leu) c.2033C>T (p.Pro678Leu) c.1982C>T (p.Pro661Leu) | |
| 14 | g.33800272C>A | CA486092994 | NPAS3 | c.1965C>A (p.Pro655=) c.1974C>A (p.Pro658=) c.1865C>A c.793+2691C>A c.1869C>A (p.Pro623=) c.1926C>A (p.Pro642=) c.1875C>A (p.Pro625=) c.1980C>A (p.Pro660=) c.1887C>A (p.Pro629=) c.1986C>A (p.Pro662=) c.2016C>A (p.Pro672=) c.2007C>A (p.Pro669=) c.1977C>A (p.Pro659=) c.1920C>A (p.Pro640=) c.1866C>A (p.Pro622=) c.1659C>A (p.Pro553=) c.2073C>A (p.Pro691=) c.2067C>A (p.Pro689=) c.2064C>A (p.Pro688=) c.2124C>A (p.Pro708=) c.2115C>A (p.Pro705=) c.2034C>A (p.Pro678=) c.1983C>A (p.Pro661=) | |
| 14 | g.33800272C>G | CA486092995 | NPAS3 | c.1965C>G (p.Pro655=) c.1974C>G (p.Pro658=) c.1865C>G c.793+2691C>G c.1869C>G (p.Pro623=) c.1926C>G (p.Pro642=) c.1875C>G (p.Pro625=) c.1980C>G (p.Pro660=) c.1887C>G (p.Pro629=) c.1986C>G (p.Pro662=) c.2016C>G (p.Pro672=) c.2007C>G (p.Pro669=) c.1977C>G (p.Pro659=) c.1920C>G (p.Pro640=) c.1866C>G (p.Pro622=) c.1659C>G (p.Pro553=) c.2073C>G (p.Pro691=) c.2067C>G (p.Pro689=) c.2064C>G (p.Pro688=) c.2124C>G (p.Pro708=) c.2115C>G (p.Pro705=) c.2034C>G (p.Pro678=) c.1983C>G (p.Pro661=) | |
| 14 | g.33800272C>T | CA486092996 | NPAS3 | c.1965C>T (p.Pro655=) c.1974C>T (p.Pro658=) c.1865C>T c.793+2691C>T c.1869C>T (p.Pro623=) c.1926C>T (p.Pro642=) c.1875C>T (p.Pro625=) c.1980C>T (p.Pro660=) c.1887C>T (p.Pro629=) c.1986C>T (p.Pro662=) c.2016C>T (p.Pro672=) c.2007C>T (p.Pro669=) c.1977C>T (p.Pro659=) c.1920C>T (p.Pro640=) c.1866C>T (p.Pro622=) c.1659C>T (p.Pro553=) c.2073C>T (p.Pro691=) c.2067C>T (p.Pro689=) c.2064C>T (p.Pro688=) c.2124C>T (p.Pro708=) c.2115C>T (p.Pro705=) c.2034C>T (p.Pro678=) c.1983C>T (p.Pro661=) | |
| 14 | g.33800273A>C | CA389413298 | NPAS3 | c.1966A>C (p.Ile656Leu) c.1975A>C (p.Ile659Leu) c.1866A>C c.793+2692A>C c.1870A>C (p.Ile624Leu) c.1927A>C (p.Ile643Leu) c.1876A>C (p.Ile626Leu) c.1981A>C (p.Ile661Leu) c.1888A>C (p.Ile630Leu) c.1987A>C (p.Ile663Leu) c.2017A>C (p.Ile673Leu) c.2008A>C (p.Ile670Leu) c.1978A>C (p.Ile660Leu) c.1921A>C (p.Ile641Leu) c.1867A>C (p.Ile623Leu) c.1660A>C (p.Ile554Leu) c.2074A>C (p.Ile692Leu) c.2068A>C (p.Ile690Leu) c.2065A>C (p.Ile689Leu) c.2125A>C (p.Ile709Leu) c.2116A>C (p.Ile706Leu) c.2035A>C (p.Ile679Leu) c.1984A>C (p.Ile662Leu) | gnomAD v4 |
| 14 | g.33800273A>G | CA389413299 | NPAS3 | c.1966A>G (p.Ile656Val) c.1975A>G (p.Ile659Val) c.1866A>G c.793+2692A>G c.1870A>G (p.Ile624Val) c.1927A>G (p.Ile643Val) c.1876A>G (p.Ile626Val) c.1981A>G (p.Ile661Val) c.1888A>G (p.Ile630Val) c.1987A>G (p.Ile663Val) c.2017A>G (p.Ile673Val) c.2008A>G (p.Ile670Val) c.1978A>G (p.Ile660Val) c.1921A>G (p.Ile641Val) c.1867A>G (p.Ile623Val) c.1660A>G (p.Ile554Val) c.2074A>G (p.Ile692Val) c.2068A>G (p.Ile690Val) c.2065A>G (p.Ile689Val) c.2125A>G (p.Ile709Val) c.2116A>G (p.Ile706Val) c.2035A>G (p.Ile679Val) c.1984A>G (p.Ile662Val) | gnomAD v4 |
| 14 | g.33800273A>T | CA389413302 | NPAS3 | c.1966A>T (p.Ile656Phe) c.1975A>T (p.Ile659Phe) c.1866A>T c.793+2692A>T c.1870A>T (p.Ile624Phe) c.1927A>T (p.Ile643Phe) c.1876A>T (p.Ile626Phe) c.1981A>T (p.Ile661Phe) c.1888A>T (p.Ile630Phe) c.1987A>T (p.Ile663Phe) c.2017A>T (p.Ile673Phe) c.2008A>T (p.Ile670Phe) c.1978A>T (p.Ile660Phe) c.1921A>T (p.Ile641Phe) c.1867A>T (p.Ile623Phe) c.1660A>T (p.Ile554Phe) c.2074A>T (p.Ile692Phe) c.2068A>T (p.Ile690Phe) c.2065A>T (p.Ile689Phe) c.2125A>T (p.Ile709Phe) c.2116A>T (p.Ile706Phe) c.2035A>T (p.Ile679Phe) c.1984A>T (p.Ile662Phe) | |
| 14 | g.33800274T>A | CA389413306 | NPAS3 | c.1967T>A (p.Ile656Asn) c.1976T>A (p.Ile659Asn) c.1867T>A c.793+2693T>A c.1871T>A (p.Ile624Asn) c.1928T>A (p.Ile643Asn) c.1877T>A (p.Ile626Asn) c.1982T>A (p.Ile661Asn) c.1889T>A (p.Ile630Asn) c.1988T>A (p.Ile663Asn) c.2018T>A (p.Ile673Asn) c.2009T>A (p.Ile670Asn) c.1979T>A (p.Ile660Asn) c.1922T>A (p.Ile641Asn) c.1868T>A (p.Ile623Asn) c.1661T>A (p.Ile554Asn) c.2075T>A (p.Ile692Asn) c.2069T>A (p.Ile690Asn) c.2066T>A (p.Ile689Asn) c.2126T>A (p.Ile709Asn) c.2117T>A (p.Ile706Asn) c.2036T>A (p.Ile679Asn) c.1985T>A (p.Ile662Asn) | |
| 14 | g.33800274T>C | CA389413308 | NPAS3 | c.1967T>C (p.Ile656Thr) c.1976T>C (p.Ile659Thr) c.1867T>C c.793+2693T>C c.1871T>C (p.Ile624Thr) c.1928T>C (p.Ile643Thr) c.1877T>C (p.Ile626Thr) c.1982T>C (p.Ile661Thr) c.1889T>C (p.Ile630Thr) c.1988T>C (p.Ile663Thr) c.2018T>C (p.Ile673Thr) c.2009T>C (p.Ile670Thr) c.1979T>C (p.Ile660Thr) c.1922T>C (p.Ile641Thr) c.1868T>C (p.Ile623Thr) c.1661T>C (p.Ile554Thr) c.2075T>C (p.Ile692Thr) c.2069T>C (p.Ile690Thr) c.2066T>C (p.Ile689Thr) c.2126T>C (p.Ile709Thr) c.2117T>C (p.Ile706Thr) c.2036T>C (p.Ile679Thr) c.1985T>C (p.Ile662Thr) | |
| 14 | g.33800274T>G | CA389413304 | NPAS3 | c.1967T>G (p.Ile656Ser) c.1976T>G (p.Ile659Ser) c.1867T>G c.793+2693T>G c.1871T>G (p.Ile624Ser) c.1928T>G (p.Ile643Ser) c.1877T>G (p.Ile626Ser) c.1982T>G (p.Ile661Ser) c.1889T>G (p.Ile630Ser) c.1988T>G (p.Ile663Ser) c.2018T>G (p.Ile673Ser) c.2009T>G (p.Ile670Ser) c.1979T>G (p.Ile660Ser) c.1922T>G (p.Ile641Ser) c.1868T>G (p.Ile623Ser) c.1661T>G (p.Ile554Ser) c.2075T>G (p.Ile692Ser) c.2069T>G (p.Ile690Ser) c.2066T>G (p.Ile689Ser) c.2126T>G (p.Ile709Ser) c.2117T>G (p.Ile706Ser) c.2036T>G (p.Ile679Ser) c.1985T>G (p.Ile662Ser) | |
| 14 | g.33800275C>A | CA486092997 | NPAS3 | c.1968C>A (p.Ile656=) c.1977C>A (p.Ile659=) c.1868C>A c.793+2694C>A c.1872C>A (p.Ile624=) c.1929C>A (p.Ile643=) c.1878C>A (p.Ile626=) c.1983C>A (p.Ile661=) c.1890C>A (p.Ile630=) c.1989C>A (p.Ile663=) c.2019C>A (p.Ile673=) c.2010C>A (p.Ile670=) c.1980C>A (p.Ile660=) c.1923C>A (p.Ile641=) c.1869C>A (p.Ile623=) c.1662C>A (p.Ile554=) c.2076C>A (p.Ile692=) c.2070C>A (p.Ile690=) c.2067C>A (p.Ile689=) c.2127C>A (p.Ile709=) c.2118C>A (p.Ile706=) c.2037C>A (p.Ile679=) c.1986C>A (p.Ile662=) | dbSNP |
| 14 | g.33800275C= | CA2128327203 | NPAS3 | c.1968C= (p.Ile656=) c.1977C= (p.Ile659=) c.1868C= c.793+2694C= c.1872C= (p.Ile624=) c.1929C= (p.Ile643=) c.1878C= (p.Ile626=) c.1983C= (p.Ile661=) c.1890C= (p.Ile630=) c.1989C= (p.Ile663=) c.2019C= (p.Ile673=) c.2010C= (p.Ile670=) c.1980C= (p.Ile660=) c.1923C= (p.Ile641=) c.1869C= (p.Ile623=) c.1662C= (p.Ile554=) c.2076C= (p.Ile692=) c.2070C= (p.Ile690=) c.2067C= (p.Ile689=) c.2127C= (p.Ile709=) c.2118C= (p.Ile706=) c.2037C= (p.Ile679=) c.1986C= (p.Ile662=) | |
| 14 | g.33800275C>G | CA389413309 | NPAS3 | c.1968C>G (p.Ile656Met) c.1977C>G (p.Ile659Met) c.1868C>G c.793+2694C>G c.1872C>G (p.Ile624Met) c.1929C>G (p.Ile643Met) c.1878C>G (p.Ile626Met) c.1983C>G (p.Ile661Met) c.1890C>G (p.Ile630Met) c.1989C>G (p.Ile663Met) c.2019C>G (p.Ile673Met) c.2010C>G (p.Ile670Met) c.1980C>G (p.Ile660Met) c.1923C>G (p.Ile641Met) c.1869C>G (p.Ile623Met) c.1662C>G (p.Ile554Met) c.2076C>G (p.Ile692Met) c.2070C>G (p.Ile690Met) c.2067C>G (p.Ile689Met) c.2127C>G (p.Ile709Met) c.2118C>G (p.Ile706Met) c.2037C>G (p.Ile679Met) c.1986C>G (p.Ile662Met) | |
| 14 | g.33800275C>T | CA486092998 | NPAS3 | c.1968C>T (p.Ile656=) c.1977C>T (p.Ile659=) c.1868C>T c.793+2694C>T c.1872C>T (p.Ile624=) c.1929C>T (p.Ile643=) c.1878C>T (p.Ile626=) c.1983C>T (p.Ile661=) c.1890C>T (p.Ile630=) c.1989C>T (p.Ile663=) c.2019C>T (p.Ile673=) c.2010C>T (p.Ile670=) c.1980C>T (p.Ile660=) c.1923C>T (p.Ile641=) c.1869C>T (p.Ile623=) c.1662C>T (p.Ile554=) c.2076C>T (p.Ile692=) c.2070C>T (p.Ile690=) c.2067C>T (p.Ile689=) c.2127C>T (p.Ile709=) c.2118C>T (p.Ile706=) c.2037C>T (p.Ile679=) c.1986C>T (p.Ile662=) | |
| 14 | g.33800276A>C | CA389413311 | NPAS3 | c.1969A>C (p.Asn657His) c.1978A>C (p.Asn660His) c.1869A>C c.793+2695A>C c.1873A>C (p.Asn625His) c.1930A>C (p.Asn644His) c.1879A>C (p.Asn627His) c.1984A>C (p.Asn662His) c.1891A>C (p.Asn631His) c.1990A>C (p.Asn664His) c.2020A>C (p.Asn674His) c.2011A>C (p.Asn671His) c.1981A>C (p.Asn661His) c.1924A>C (p.Asn642His) c.1870A>C (p.Asn624His) c.1663A>C (p.Asn555His) c.2077A>C (p.Asn693His) c.2071A>C (p.Asn691His) c.2068A>C (p.Asn690His) c.2128A>C (p.Asn710His) c.2119A>C (p.Asn707His) c.2038A>C (p.Asn680His) c.1987A>C (p.Asn663His) | |
| 14 | g.33800276A>G | CA389413313 | NPAS3 | c.1969A>G (p.Asn657Asp) c.1978A>G (p.Asn660Asp) c.1869A>G c.793+2695A>G c.1873A>G (p.Asn625Asp) c.1930A>G (p.Asn644Asp) c.1879A>G (p.Asn627Asp) c.1984A>G (p.Asn662Asp) c.1891A>G (p.Asn631Asp) c.1990A>G (p.Asn664Asp) c.2020A>G (p.Asn674Asp) c.2011A>G (p.Asn671Asp) c.1981A>G (p.Asn661Asp) c.1924A>G (p.Asn642Asp) c.1870A>G (p.Asn624Asp) c.1663A>G (p.Asn555Asp) c.2077A>G (p.Asn693Asp) c.2071A>G (p.Asn691Asp) c.2068A>G (p.Asn690Asp) c.2128A>G (p.Asn710Asp) c.2119A>G (p.Asn707Asp) c.2038A>G (p.Asn680Asp) c.1987A>G (p.Asn663Asp) | |
| 14 | g.33800276A>T | CA389413315 | NPAS3 | c.1969A>T (p.Asn657Tyr) c.1978A>T (p.Asn660Tyr) c.1869A>T c.793+2695A>T c.1873A>T (p.Asn625Tyr) c.1930A>T (p.Asn644Tyr) c.1879A>T (p.Asn627Tyr) c.1984A>T (p.Asn662Tyr) c.1891A>T (p.Asn631Tyr) c.1990A>T (p.Asn664Tyr) c.2020A>T (p.Asn674Tyr) c.2011A>T (p.Asn671Tyr) c.1981A>T (p.Asn661Tyr) c.1924A>T (p.Asn642Tyr) c.1870A>T (p.Asn624Tyr) c.1663A>T (p.Asn555Tyr) c.2077A>T (p.Asn693Tyr) c.2071A>T (p.Asn691Tyr) c.2068A>T (p.Asn690Tyr) c.2128A>T (p.Asn710Tyr) c.2119A>T (p.Asn707Tyr) c.2038A>T (p.Asn680Tyr) c.1987A>T (p.Asn663Tyr) | |
| 14 | g.33800277A>C | CA389413317 | NPAS3 | c.1970A>C (p.Asn657Thr) c.1979A>C (p.Asn660Thr) c.1870A>C c.793+2696A>C c.1874A>C (p.Asn625Thr) c.1931A>C (p.Asn644Thr) c.1880A>C (p.Asn627Thr) c.1985A>C (p.Asn662Thr) c.1892A>C (p.Asn631Thr) c.1991A>C (p.Asn664Thr) c.2021A>C (p.Asn674Thr) c.2012A>C (p.Asn671Thr) c.1982A>C (p.Asn661Thr) c.1925A>C (p.Asn642Thr) c.1871A>C (p.Asn624Thr) c.1664A>C (p.Asn555Thr) c.2078A>C (p.Asn693Thr) c.2072A>C (p.Asn691Thr) c.2069A>C (p.Asn690Thr) c.2129A>C (p.Asn710Thr) c.2120A>C (p.Asn707Thr) c.2039A>C (p.Asn680Thr) c.1988A>C (p.Asn663Thr) | |
| 14 | g.33800277A>G | CA389413319 | NPAS3 | c.1970A>G (p.Asn657Ser) c.1979A>G (p.Asn660Ser) c.1870A>G c.793+2696A>G c.1874A>G (p.Asn625Ser) c.1931A>G (p.Asn644Ser) c.1880A>G (p.Asn627Ser) c.1985A>G (p.Asn662Ser) c.1892A>G (p.Asn631Ser) c.1991A>G (p.Asn664Ser) c.2021A>G (p.Asn674Ser) c.2012A>G (p.Asn671Ser) c.1982A>G (p.Asn661Ser) c.1925A>G (p.Asn642Ser) c.1871A>G (p.Asn624Ser) c.1664A>G (p.Asn555Ser) c.2078A>G (p.Asn693Ser) c.2072A>G (p.Asn691Ser) c.2069A>G (p.Asn690Ser) c.2129A>G (p.Asn710Ser) c.2120A>G (p.Asn707Ser) c.2039A>G (p.Asn680Ser) c.1988A>G (p.Asn663Ser) | gnomAD v4 |
| 14 | g.33800277A>T | CA389413321 | NPAS3 | c.1970A>T (p.Asn657Ile) c.1979A>T (p.Asn660Ile) c.1870A>T c.793+2696A>T c.1874A>T (p.Asn625Ile) c.1931A>T (p.Asn644Ile) c.1880A>T (p.Asn627Ile) c.1985A>T (p.Asn662Ile) c.1892A>T (p.Asn631Ile) c.1991A>T (p.Asn664Ile) c.2021A>T (p.Asn674Ile) c.2012A>T (p.Asn671Ile) c.1982A>T (p.Asn661Ile) c.1925A>T (p.Asn642Ile) c.1871A>T (p.Asn624Ile) c.1664A>T (p.Asn555Ile) c.2078A>T (p.Asn693Ile) c.2072A>T (p.Asn691Ile) c.2069A>T (p.Asn690Ile) c.2129A>T (p.Asn710Ile) c.2120A>T (p.Asn707Ile) c.2039A>T (p.Asn680Ile) c.1988A>T (p.Asn663Ile) | |
| 14 | g.33800278T>A | CA389413323 | NPAS3 | c.1971T>A (p.Asn657Lys) c.1980T>A (p.Asn660Lys) c.1871T>A c.793+2697T>A c.1875T>A (p.Asn625Lys) c.1932T>A (p.Asn644Lys) c.1881T>A (p.Asn627Lys) c.1986T>A (p.Asn662Lys) c.1893T>A (p.Asn631Lys) c.1992T>A (p.Asn664Lys) c.2022T>A (p.Asn674Lys) c.2013T>A (p.Asn671Lys) c.1983T>A (p.Asn661Lys) c.1926T>A (p.Asn642Lys) c.1872T>A (p.Asn624Lys) c.1665T>A (p.Asn555Lys) c.2079T>A (p.Asn693Lys) c.2073T>A (p.Asn691Lys) c.2070T>A (p.Asn690Lys) c.2130T>A (p.Asn710Lys) c.2121T>A (p.Asn707Lys) c.2040T>A (p.Asn680Lys) c.1989T>A (p.Asn663Lys) | |
| 14 | g.33800278T>C | CA486092999 | NPAS3 | c.1971T>C (p.Asn657=) c.1980T>C (p.Asn660=) c.1871T>C c.793+2697T>C c.1875T>C (p.Asn625=) c.1932T>C (p.Asn644=) c.1881T>C (p.Asn627=) c.1986T>C (p.Asn662=) c.1893T>C (p.Asn631=) c.1992T>C (p.Asn664=) c.2022T>C (p.Asn674=) c.2013T>C (p.Asn671=) c.1983T>C (p.Asn661=) c.1926T>C (p.Asn642=) c.1872T>C (p.Asn624=) c.1665T>C (p.Asn555=) c.2079T>C (p.Asn693=) c.2073T>C (p.Asn691=) c.2070T>C (p.Asn690=) c.2130T>C (p.Asn710=) c.2121T>C (p.Asn707=) c.2040T>C (p.Asn680=) c.1989T>C (p.Asn663=) | |
| 14 | g.33800278T>G | CA389413325 | NPAS3 | c.1971T>G (p.Asn657Lys) c.1980T>G (p.Asn660Lys) c.1871T>G c.793+2697T>G c.1875T>G (p.Asn625Lys) c.1932T>G (p.Asn644Lys) c.1881T>G (p.Asn627Lys) c.1986T>G (p.Asn662Lys) c.1893T>G (p.Asn631Lys) c.1992T>G (p.Asn664Lys) c.2022T>G (p.Asn674Lys) c.2013T>G (p.Asn671Lys) c.1983T>G (p.Asn661Lys) c.1926T>G (p.Asn642Lys) c.1872T>G (p.Asn624Lys) c.1665T>G (p.Asn555Lys) c.2079T>G (p.Asn693Lys) c.2073T>G (p.Asn691Lys) c.2070T>G (p.Asn690Lys) c.2130T>G (p.Asn710Lys) c.2121T>G (p.Asn707Lys) c.2040T>G (p.Asn680Lys) c.1989T>G (p.Asn663Lys) | |
| 14 | g.33800279T>A | CA389413327 | NPAS3 | c.1972T>A (p.Phe658Ile) c.1981T>A (p.Phe661Ile) c.1872T>A c.793+2698T>A c.1876T>A (p.Phe626Ile) c.1933T>A (p.Phe645Ile) c.1882T>A (p.Phe628Ile) c.1987T>A (p.Phe663Ile) c.1894T>A (p.Phe632Ile) c.1993T>A (p.Phe665Ile) c.2023T>A (p.Phe675Ile) c.2014T>A (p.Phe672Ile) c.1984T>A (p.Phe662Ile) c.1927T>A (p.Phe643Ile) c.1873T>A (p.Phe625Ile) c.1666T>A (p.Phe556Ile) c.2080T>A (p.Phe694Ile) c.2074T>A (p.Phe692Ile) c.2071T>A (p.Phe691Ile) c.2131T>A (p.Phe711Ile) c.2122T>A (p.Phe708Ile) c.2041T>A (p.Phe681Ile) c.1990T>A (p.Phe664Ile) | |
| 14 | g.33800279T>C | CA389413328 | NPAS3 | c.1972T>C (p.Phe658Leu) c.1981T>C (p.Phe661Leu) c.1872T>C c.793+2698T>C c.1876T>C (p.Phe626Leu) c.1933T>C (p.Phe645Leu) c.1882T>C (p.Phe628Leu) c.1987T>C (p.Phe663Leu) c.1894T>C (p.Phe632Leu) c.1993T>C (p.Phe665Leu) c.2023T>C (p.Phe675Leu) c.2014T>C (p.Phe672Leu) c.1984T>C (p.Phe662Leu) c.1927T>C (p.Phe643Leu) c.1873T>C (p.Phe625Leu) c.1666T>C (p.Phe556Leu) c.2080T>C (p.Phe694Leu) c.2074T>C (p.Phe692Leu) c.2071T>C (p.Phe691Leu) c.2131T>C (p.Phe711Leu) c.2122T>C (p.Phe708Leu) c.2041T>C (p.Phe681Leu) c.1990T>C (p.Phe664Leu) | |
| 14 | g.33800279T>G | CA389413329 | NPAS3 | c.1972T>G (p.Phe658Val) c.1981T>G (p.Phe661Val) c.1872T>G c.793+2698T>G c.1876T>G (p.Phe626Val) c.1933T>G (p.Phe645Val) c.1882T>G (p.Phe628Val) c.1987T>G (p.Phe663Val) c.1894T>G (p.Phe632Val) c.1993T>G (p.Phe665Val) c.2023T>G (p.Phe675Val) c.2014T>G (p.Phe672Val) c.1984T>G (p.Phe662Val) c.1927T>G (p.Phe643Val) c.1873T>G (p.Phe625Val) c.1666T>G (p.Phe556Val) c.2080T>G (p.Phe694Val) c.2074T>G (p.Phe692Val) c.2071T>G (p.Phe691Val) c.2131T>G (p.Phe711Val) c.2122T>G (p.Phe708Val) c.2041T>G (p.Phe681Val) c.1990T>G (p.Phe664Val) | COSMIC COSMIC COSMIC |
| 14 | g.33800280T>A | CA389413336 | NPAS3 | c.1973T>A (p.Phe658Tyr) c.1982T>A (p.Phe661Tyr) c.1873T>A c.793+2699T>A c.1877T>A (p.Phe626Tyr) c.1934T>A (p.Phe645Tyr) c.1883T>A (p.Phe628Tyr) c.1988T>A (p.Phe663Tyr) c.1895T>A (p.Phe632Tyr) c.1994T>A (p.Phe665Tyr) c.2024T>A (p.Phe675Tyr) c.2015T>A (p.Phe672Tyr) c.1985T>A (p.Phe662Tyr) c.1928T>A (p.Phe643Tyr) c.1874T>A (p.Phe625Tyr) c.1667T>A (p.Phe556Tyr) c.2081T>A (p.Phe694Tyr) c.2075T>A (p.Phe692Tyr) c.2072T>A (p.Phe691Tyr) c.2132T>A (p.Phe711Tyr) c.2123T>A (p.Phe708Tyr) c.2042T>A (p.Phe681Tyr) c.1991T>A (p.Phe664Tyr) | |
| 14 | g.33800280T>C | CA389413334 | NPAS3 | c.1973T>C (p.Phe658Ser) c.1982T>C (p.Phe661Ser) c.1873T>C c.793+2699T>C c.1877T>C (p.Phe626Ser) c.1934T>C (p.Phe645Ser) c.1883T>C (p.Phe628Ser) c.1988T>C (p.Phe663Ser) c.1895T>C (p.Phe632Ser) c.1994T>C (p.Phe665Ser) c.2024T>C (p.Phe675Ser) c.2015T>C (p.Phe672Ser) c.1985T>C (p.Phe662Ser) c.1928T>C (p.Phe643Ser) c.1874T>C (p.Phe625Ser) c.1667T>C (p.Phe556Ser) c.2081T>C (p.Phe694Ser) c.2075T>C (p.Phe692Ser) c.2072T>C (p.Phe691Ser) c.2132T>C (p.Phe711Ser) c.2123T>C (p.Phe708Ser) c.2042T>C (p.Phe681Ser) c.1991T>C (p.Phe664Ser) | |
| 14 | g.33800280T>G | CA389413332 | NPAS3 | c.1973T>G (p.Phe658Cys) c.1982T>G (p.Phe661Cys) c.1873T>G c.793+2699T>G c.1877T>G (p.Phe626Cys) c.1934T>G (p.Phe645Cys) c.1883T>G (p.Phe628Cys) c.1988T>G (p.Phe663Cys) c.1895T>G (p.Phe632Cys) c.1994T>G (p.Phe665Cys) c.2024T>G (p.Phe675Cys) c.2015T>G (p.Phe672Cys) c.1985T>G (p.Phe662Cys) c.1928T>G (p.Phe643Cys) c.1874T>G (p.Phe625Cys) c.1667T>G (p.Phe556Cys) c.2081T>G (p.Phe694Cys) c.2075T>G (p.Phe692Cys) c.2072T>G (p.Phe691Cys) c.2132T>G (p.Phe711Cys) c.2123T>G (p.Phe708Cys) c.2042T>G (p.Phe681Cys) c.1991T>G (p.Phe664Cys) | |
| 14 | g.33800281C>A | CA389413338 | NPAS3 | c.1974C>A (p.Phe658Leu) c.1983C>A (p.Phe661Leu) c.1874C>A c.793+2700C>A c.1878C>A (p.Phe626Leu) c.1935C>A (p.Phe645Leu) c.1884C>A (p.Phe628Leu) c.1989C>A (p.Phe663Leu) c.1896C>A (p.Phe632Leu) c.1995C>A (p.Phe665Leu) c.2025C>A (p.Phe675Leu) c.2016C>A (p.Phe672Leu) c.1986C>A (p.Phe662Leu) c.1929C>A (p.Phe643Leu) c.1875C>A (p.Phe625Leu) c.1668C>A (p.Phe556Leu) c.2082C>A (p.Phe694Leu) c.2076C>A (p.Phe692Leu) c.2073C>A (p.Phe691Leu) c.2133C>A (p.Phe711Leu) c.2124C>A (p.Phe708Leu) c.2043C>A (p.Phe681Leu) c.1992C>A (p.Phe664Leu) | |
| 14 | g.33800281C= | CA2128327207 | NPAS3 | c.1974C= (p.Phe658=) c.1983C= (p.Phe661=) c.1874C= c.793+2700C= c.1878C= (p.Phe626=) c.1935C= (p.Phe645=) c.1884C= (p.Phe628=) c.1989C= (p.Phe663=) c.1896C= (p.Phe632=) c.1995C= (p.Phe665=) c.2025C= (p.Phe675=) c.2016C= (p.Phe672=) c.1986C= (p.Phe662=) c.1929C= (p.Phe643=) c.1875C= (p.Phe625=) c.1668C= (p.Phe556=) c.2082C= (p.Phe694=) c.2076C= (p.Phe692=) c.2073C= (p.Phe691=) c.2133C= (p.Phe711=) c.2124C= (p.Phe708=) c.2043C= (p.Phe681=) c.1992C= (p.Phe664=) | |
| 14 | g.33800281C>G | CA7150920 | NPAS3 | c.1974C>G (p.Phe658Leu) c.1983C>G (p.Phe661Leu) c.1874C>G c.793+2700C>G c.1878C>G (p.Phe626Leu) c.1935C>G (p.Phe645Leu) c.1884C>G (p.Phe628Leu) c.1989C>G (p.Phe663Leu) c.1896C>G (p.Phe632Leu) c.1995C>G (p.Phe665Leu) c.2025C>G (p.Phe675Leu) c.2016C>G (p.Phe672Leu) c.1986C>G (p.Phe662Leu) c.1929C>G (p.Phe643Leu) c.1875C>G (p.Phe625Leu) c.1668C>G (p.Phe556Leu) c.2082C>G (p.Phe694Leu) c.2076C>G (p.Phe692Leu) c.2073C>G (p.Phe691Leu) c.2133C>G (p.Phe711Leu) c.2124C>G (p.Phe708Leu) c.2043C>G (p.Phe681Leu) c.1992C>G (p.Phe664Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800281C>T | CA486093000 | NPAS3 | c.1974C>T (p.Phe658=) c.1983C>T (p.Phe661=) c.1874C>T c.793+2700C>T c.1878C>T (p.Phe626=) c.1935C>T (p.Phe645=) c.1884C>T (p.Phe628=) c.1989C>T (p.Phe663=) c.1896C>T (p.Phe632=) c.1995C>T (p.Phe665=) c.2025C>T (p.Phe675=) c.2016C>T (p.Phe672=) c.1986C>T (p.Phe662=) c.1929C>T (p.Phe643=) c.1875C>T (p.Phe625=) c.1668C>T (p.Phe556=) c.2082C>T (p.Phe694=) c.2076C>T (p.Phe692=) c.2073C>T (p.Phe691=) c.2133C>T (p.Phe711=) c.2124C>T (p.Phe708=) c.2043C>T (p.Phe681=) c.1992C>T (p.Phe664=) | COSMIC COSMIC COSMIC |
| 14 | g.33800282G>A | CA389413340 | NPAS3 | c.1975G>A (p.Asp659Asn) c.1984G>A (p.Asp662Asn) c.1875G>A c.793+2701G>A c.1879G>A (p.Asp627Asn) c.1936G>A (p.Asp646Asn) c.1885G>A (p.Asp629Asn) c.1990G>A (p.Asp664Asn) c.1897G>A (p.Asp633Asn) c.1996G>A (p.Asp666Asn) c.2026G>A (p.Asp676Asn) c.2017G>A (p.Asp673Asn) c.1987G>A (p.Asp663Asn) c.1930G>A (p.Asp644Asn) c.1876G>A (p.Asp626Asn) c.1669G>A (p.Asp557Asn) c.2083G>A (p.Asp695Asn) c.2077G>A (p.Asp693Asn) c.2074G>A (p.Asp692Asn) c.2134G>A (p.Asp712Asn) c.2125G>A (p.Asp709Asn) c.2044G>A (p.Asp682Asn) c.1993G>A (p.Asp665Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800282G>C | CA389413342 | NPAS3 | c.1975G>C (p.Asp659His) c.1984G>C (p.Asp662His) c.1875G>C c.793+2701G>C c.1879G>C (p.Asp627His) c.1936G>C (p.Asp646His) c.1885G>C (p.Asp629His) c.1990G>C (p.Asp664His) c.1897G>C (p.Asp633His) c.1996G>C (p.Asp666His) c.2026G>C (p.Asp676His) c.2017G>C (p.Asp673His) c.1987G>C (p.Asp663His) c.1930G>C (p.Asp644His) c.1876G>C (p.Asp626His) c.1669G>C (p.Asp557His) c.2083G>C (p.Asp695His) c.2077G>C (p.Asp693His) c.2074G>C (p.Asp692His) c.2134G>C (p.Asp712His) c.2125G>C (p.Asp709His) c.2044G>C (p.Asp682His) c.1993G>C (p.Asp665His) | |
| 14 | g.33800282G= | CA2128327210 | NPAS3 | c.1975G= (p.Asp659=) c.1984G= (p.Asp662=) c.1875G= c.793+2701G= c.1879G= (p.Asp627=) c.1936G= (p.Asp646=) c.1885G= (p.Asp629=) c.1990G= (p.Asp664=) c.1897G= (p.Asp633=) c.1996G= (p.Asp666=) c.2026G= (p.Asp676=) c.2017G= (p.Asp673=) c.1987G= (p.Asp663=) c.1930G= (p.Asp644=) c.1876G= (p.Asp626=) c.1669G= (p.Asp557=) c.2083G= (p.Asp695=) c.2077G= (p.Asp693=) c.2074G= (p.Asp692=) c.2134G= (p.Asp712=) c.2125G= (p.Asp709=) c.2044G= (p.Asp682=) c.1993G= (p.Asp665=) | |
| 14 | g.33800282G>T | CA389413343 | NPAS3 | c.1975G>T (p.Asp659Tyr) c.1984G>T (p.Asp662Tyr) c.1875G>T c.793+2701G>T c.1879G>T (p.Asp627Tyr) c.1936G>T (p.Asp646Tyr) c.1885G>T (p.Asp629Tyr) c.1990G>T (p.Asp664Tyr) c.1897G>T (p.Asp633Tyr) c.1996G>T (p.Asp666Tyr) c.2026G>T (p.Asp676Tyr) c.2017G>T (p.Asp673Tyr) c.1987G>T (p.Asp663Tyr) c.1930G>T (p.Asp644Tyr) c.1876G>T (p.Asp626Tyr) c.1669G>T (p.Asp557Tyr) c.2083G>T (p.Asp695Tyr) c.2077G>T (p.Asp693Tyr) c.2074G>T (p.Asp692Tyr) c.2134G>T (p.Asp712Tyr) c.2125G>T (p.Asp709Tyr) c.2044G>T (p.Asp682Tyr) c.1993G>T (p.Asp665Tyr) | |
| 14 | g.33800283A= | CA2128327212 | NPAS3 | c.1976A= (p.Asp659=) c.1985A= (p.Asp662=) c.1876A= c.793+2702A= c.1880A= (p.Asp627=) c.1937A= (p.Asp646=) c.1886A= (p.Asp629=) c.1991A= (p.Asp664=) c.1898A= (p.Asp633=) c.1997A= (p.Asp666=) c.2027A= (p.Asp676=) c.2018A= (p.Asp673=) c.1988A= (p.Asp663=) c.1931A= (p.Asp644=) c.1877A= (p.Asp626=) c.1670A= (p.Asp557=) c.2084A= (p.Asp695=) c.2078A= (p.Asp693=) c.2075A= (p.Asp692=) c.2135A= (p.Asp712=) c.2126A= (p.Asp709=) c.2045A= (p.Asp682=) c.1994A= (p.Asp665=) | |
| 14 | g.33800283A>C | CA389413346 | NPAS3 | c.1976A>C (p.Asp659Ala) c.1985A>C (p.Asp662Ala) c.1876A>C c.793+2702A>C c.1880A>C (p.Asp627Ala) c.1937A>C (p.Asp646Ala) c.1886A>C (p.Asp629Ala) c.1991A>C (p.Asp664Ala) c.1898A>C (p.Asp633Ala) c.1997A>C (p.Asp666Ala) c.2027A>C (p.Asp676Ala) c.2018A>C (p.Asp673Ala) c.1988A>C (p.Asp663Ala) c.1931A>C (p.Asp644Ala) c.1877A>C (p.Asp626Ala) c.1670A>C (p.Asp557Ala) c.2084A>C (p.Asp695Ala) c.2078A>C (p.Asp693Ala) c.2075A>C (p.Asp692Ala) c.2135A>C (p.Asp712Ala) c.2126A>C (p.Asp709Ala) c.2045A>C (p.Asp682Ala) c.1994A>C (p.Asp665Ala) | |
| 14 | g.33800283A>G | CA389413347 | NPAS3 | c.1976A>G (p.Asp659Gly) c.1985A>G (p.Asp662Gly) c.1876A>G c.793+2702A>G c.1880A>G (p.Asp627Gly) c.1937A>G (p.Asp646Gly) c.1886A>G (p.Asp629Gly) c.1991A>G (p.Asp664Gly) c.1898A>G (p.Asp633Gly) c.1997A>G (p.Asp666Gly) c.2027A>G (p.Asp676Gly) c.2018A>G (p.Asp673Gly) c.1988A>G (p.Asp663Gly) c.1931A>G (p.Asp644Gly) c.1877A>G (p.Asp626Gly) c.1670A>G (p.Asp557Gly) c.2084A>G (p.Asp695Gly) c.2078A>G (p.Asp693Gly) c.2075A>G (p.Asp692Gly) c.2135A>G (p.Asp712Gly) c.2126A>G (p.Asp709Gly) c.2045A>G (p.Asp682Gly) c.1994A>G (p.Asp665Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800283A>T | CA389413349 | NPAS3 | c.1976A>T (p.Asp659Val) c.1985A>T (p.Asp662Val) c.1876A>T c.793+2702A>T c.1880A>T (p.Asp627Val) c.1937A>T (p.Asp646Val) c.1886A>T (p.Asp629Val) c.1991A>T (p.Asp664Val) c.1898A>T (p.Asp633Val) c.1997A>T (p.Asp666Val) c.2027A>T (p.Asp676Val) c.2018A>T (p.Asp673Val) c.1988A>T (p.Asp663Val) c.1931A>T (p.Asp644Val) c.1877A>T (p.Asp626Val) c.1670A>T (p.Asp557Val) c.2084A>T (p.Asp695Val) c.2078A>T (p.Asp693Val) c.2075A>T (p.Asp692Val) c.2135A>T (p.Asp712Val) c.2126A>T (p.Asp709Val) c.2045A>T (p.Asp682Val) c.1994A>T (p.Asp665Val) | |
| 14 | g.33800284C>A | CA389413351 | NPAS3 | c.1977C>A (p.Asp659Glu) c.1986C>A (p.Asp662Glu) c.1877C>A c.793+2703C>A c.1881C>A (p.Asp627Glu) c.1938C>A (p.Asp646Glu) c.1887C>A (p.Asp629Glu) c.1992C>A (p.Asp664Glu) c.1899C>A (p.Asp633Glu) c.1998C>A (p.Asp666Glu) c.2028C>A (p.Asp676Glu) c.2019C>A (p.Asp673Glu) c.1989C>A (p.Asp663Glu) c.1932C>A (p.Asp644Glu) c.1878C>A (p.Asp626Glu) c.1671C>A (p.Asp557Glu) c.2085C>A (p.Asp695Glu) c.2079C>A (p.Asp693Glu) c.2076C>A (p.Asp692Glu) c.2136C>A (p.Asp712Glu) c.2127C>A (p.Asp709Glu) c.2046C>A (p.Asp682Glu) c.1995C>A (p.Asp665Glu) | |
| 14 | g.33800284C= | CA2128327214 | NPAS3 | c.1977C= (p.Asp659=) c.1986C= (p.Asp662=) c.1877C= c.793+2703C= c.1881C= (p.Asp627=) c.1938C= (p.Asp646=) c.1887C= (p.Asp629=) c.1992C= (p.Asp664=) c.1899C= (p.Asp633=) c.1998C= (p.Asp666=) c.2028C= (p.Asp676=) c.2019C= (p.Asp673=) c.1989C= (p.Asp663=) c.1932C= (p.Asp644=) c.1878C= (p.Asp626=) c.1671C= (p.Asp557=) c.2085C= (p.Asp695=) c.2079C= (p.Asp693=) c.2076C= (p.Asp692=) c.2136C= (p.Asp712=) c.2127C= (p.Asp709=) c.2046C= (p.Asp682=) c.1995C= (p.Asp665=) | |
| 14 | g.33800284C>G | CA389413352 | NPAS3 | c.1977C>G (p.Asp659Glu) c.1986C>G (p.Asp662Glu) c.1877C>G c.793+2703C>G c.1881C>G (p.Asp627Glu) c.1938C>G (p.Asp646Glu) c.1887C>G (p.Asp629Glu) c.1992C>G (p.Asp664Glu) c.1899C>G (p.Asp633Glu) c.1998C>G (p.Asp666Glu) c.2028C>G (p.Asp676Glu) c.2019C>G (p.Asp673Glu) c.1989C>G (p.Asp663Glu) c.1932C>G (p.Asp644Glu) c.1878C>G (p.Asp626Glu) c.1671C>G (p.Asp557Glu) c.2085C>G (p.Asp695Glu) c.2079C>G (p.Asp693Glu) c.2076C>G (p.Asp692Glu) c.2136C>G (p.Asp712Glu) c.2127C>G (p.Asp709Glu) c.2046C>G (p.Asp682Glu) c.1995C>G (p.Asp665Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800284C>T | CA486093001 | NPAS3 | c.1977C>T (p.Asp659=) c.1986C>T (p.Asp662=) c.1877C>T c.793+2703C>T c.1881C>T (p.Asp627=) c.1938C>T (p.Asp646=) c.1887C>T (p.Asp629=) c.1992C>T (p.Asp664=) c.1899C>T (p.Asp633=) c.1998C>T (p.Asp666=) c.2028C>T (p.Asp676=) c.2019C>T (p.Asp673=) c.1989C>T (p.Asp663=) c.1932C>T (p.Asp644=) c.1878C>T (p.Asp626=) c.1671C>T (p.Asp557=) c.2085C>T (p.Asp695=) c.2079C>T (p.Asp693=) c.2076C>T (p.Asp692=) c.2136C>T (p.Asp712=) c.2127C>T (p.Asp709=) c.2046C>T (p.Asp682=) c.1995C>T (p.Asp665=) | |
| 14 | g.33800285A>C | CA389413354 | NPAS3 | c.1978A>C (p.Asn660His) c.1987A>C (p.Asn663His) c.1878A>C c.793+2704A>C c.1882A>C (p.Asn628His) c.1939A>C (p.Asn647His) c.1888A>C (p.Asn630His) c.1993A>C (p.Asn665His) c.1900A>C (p.Asn634His) c.1999A>C (p.Asn667His) c.2029A>C (p.Asn677His) c.2020A>C (p.Asn674His) c.1990A>C (p.Asn664His) c.1933A>C (p.Asn645His) c.1879A>C (p.Asn627His) c.1672A>C (p.Asn558His) c.2086A>C (p.Asn696His) c.2080A>C (p.Asn694His) c.2077A>C (p.Asn693His) c.2137A>C (p.Asn713His) c.2128A>C (p.Asn710His) c.2047A>C (p.Asn683His) c.1996A>C (p.Asn666His) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800285A>G | CA389413356 | NPAS3 | c.1978A>G (p.Asn660Asp) c.1987A>G (p.Asn663Asp) c.1878A>G c.793+2704A>G c.1882A>G (p.Asn628Asp) c.1939A>G (p.Asn647Asp) c.1888A>G (p.Asn630Asp) c.1993A>G (p.Asn665Asp) c.1900A>G (p.Asn634Asp) c.1999A>G (p.Asn667Asp) c.2029A>G (p.Asn677Asp) c.2020A>G (p.Asn674Asp) c.1990A>G (p.Asn664Asp) c.1933A>G (p.Asn645Asp) c.1879A>G (p.Asn627Asp) c.1672A>G (p.Asn558Asp) c.2086A>G (p.Asn696Asp) c.2080A>G (p.Asn694Asp) c.2077A>G (p.Asn693Asp) c.2137A>G (p.Asn713Asp) c.2128A>G (p.Asn710Asp) c.2047A>G (p.Asn683Asp) c.1996A>G (p.Asn666Asp) | |
| 14 | g.33800285A>T | CA389413358 | NPAS3 | c.1978A>T (p.Asn660Tyr) c.1987A>T (p.Asn663Tyr) c.1878A>T c.793+2704A>T c.1882A>T (p.Asn628Tyr) c.1939A>T (p.Asn647Tyr) c.1888A>T (p.Asn630Tyr) c.1993A>T (p.Asn665Tyr) c.1900A>T (p.Asn634Tyr) c.1999A>T (p.Asn667Tyr) c.2029A>T (p.Asn677Tyr) c.2020A>T (p.Asn674Tyr) c.1990A>T (p.Asn664Tyr) c.1933A>T (p.Asn645Tyr) c.1879A>T (p.Asn627Tyr) c.1672A>T (p.Asn558Tyr) c.2086A>T (p.Asn696Tyr) c.2080A>T (p.Asn694Tyr) c.2077A>T (p.Asn693Tyr) c.2137A>T (p.Asn713Tyr) c.2128A>T (p.Asn710Tyr) c.2047A>T (p.Asn683Tyr) c.1996A>T (p.Asn666Tyr) | |
| 14 | g.33800286A>C | CA389413362 | NPAS3 | c.1979A>C (p.Asn660Thr) c.1988A>C (p.Asn663Thr) c.1879A>C c.793+2705A>C c.1883A>C (p.Asn628Thr) c.1940A>C (p.Asn647Thr) c.1889A>C (p.Asn630Thr) c.1994A>C (p.Asn665Thr) c.1901A>C (p.Asn634Thr) c.2000A>C (p.Asn667Thr) c.2030A>C (p.Asn677Thr) c.2021A>C (p.Asn674Thr) c.1991A>C (p.Asn664Thr) c.1934A>C (p.Asn645Thr) c.1880A>C (p.Asn627Thr) c.1673A>C (p.Asn558Thr) c.2087A>C (p.Asn696Thr) c.2081A>C (p.Asn694Thr) c.2078A>C (p.Asn693Thr) c.2138A>C (p.Asn713Thr) c.2129A>C (p.Asn710Thr) c.2048A>C (p.Asn683Thr) c.1997A>C (p.Asn666Thr) | |
| 14 | g.33800286A>G | CA389413364 | NPAS3 | c.1979A>G (p.Asn660Ser) c.1988A>G (p.Asn663Ser) c.1879A>G c.793+2705A>G c.1883A>G (p.Asn628Ser) c.1940A>G (p.Asn647Ser) c.1889A>G (p.Asn630Ser) c.1994A>G (p.Asn665Ser) c.1901A>G (p.Asn634Ser) c.2000A>G (p.Asn667Ser) c.2030A>G (p.Asn677Ser) c.2021A>G (p.Asn674Ser) c.1991A>G (p.Asn664Ser) c.1934A>G (p.Asn645Ser) c.1880A>G (p.Asn627Ser) c.1673A>G (p.Asn558Ser) c.2087A>G (p.Asn696Ser) c.2081A>G (p.Asn694Ser) c.2078A>G (p.Asn693Ser) c.2138A>G (p.Asn713Ser) c.2129A>G (p.Asn710Ser) c.2048A>G (p.Asn683Ser) c.1997A>G (p.Asn666Ser) | |
| 14 | g.33800286A>T | CA389413360 | NPAS3 | c.1979A>T (p.Asn660Ile) c.1988A>T (p.Asn663Ile) c.1879A>T c.793+2705A>T c.1883A>T (p.Asn628Ile) c.1940A>T (p.Asn647Ile) c.1889A>T (p.Asn630Ile) c.1994A>T (p.Asn665Ile) c.1901A>T (p.Asn634Ile) c.2000A>T (p.Asn667Ile) c.2030A>T (p.Asn677Ile) c.2021A>T (p.Asn674Ile) c.1991A>T (p.Asn664Ile) c.1934A>T (p.Asn645Ile) c.1880A>T (p.Asn627Ile) c.1673A>T (p.Asn558Ile) c.2087A>T (p.Asn696Ile) c.2081A>T (p.Asn694Ile) c.2078A>T (p.Asn693Ile) c.2138A>T (p.Asn713Ile) c.2129A>T (p.Asn710Ile) c.2048A>T (p.Asn683Ile) c.1997A>T (p.Asn666Ile) | |
| 14 | g.33800286_33800290delinsATGAC | CA2128327218 | NPAS3 | c.1979_1983delinsATGAC (p.Asn660=) c.1988_1992delinsATGAC (p.Asn663=) c.1879_1883delinsATGAC c.793+2705_793+2709delinsATGAC c.1883_1887delinsATGAC (p.Asn628=) c.1940_1944delinsATGAC (p.Asn647=) c.1889_1893delinsATGAC (p.Asn630=) c.1994_1998delinsATGAC (p.Asn665=) c.1901_1905delinsATGAC (p.Asn634=) c.2000_2004delinsATGAC (p.Asn667=) c.2030_2034delinsATGAC (p.Asn677=) c.2021_2025delinsATGAC (p.Asn674=) c.1991_1995delinsATGAC (p.Asn664=) c.1934_1938delinsATGAC (p.Asn645=) c.1880_1884delinsATGAC (p.Asn627=) c.1673_1677delinsATGAC (p.Asn558=) c.2087_2091delinsATGAC (p.Asn696=) c.2081_2085delinsATGAC (p.Asn694=) c.2078_2082delinsATGAC (p.Asn693=) c.2138_2142delinsATGAC (p.Asn713=) c.2129_2133delinsATGAC (p.Asn710=) c.2048_2052delinsATGAC (p.Asn683=) c.1997_2001delinsATGAC (p.Asn666=) | |
| 14 | g.33800287T>A | CA389413366 | NPAS3 | c.1980T>A (p.Asn660Lys) c.1989T>A (p.Asn663Lys) c.1880T>A c.793+2706T>A c.1884T>A (p.Asn628Lys) c.1941T>A (p.Asn647Lys) c.1890T>A (p.Asn630Lys) c.1995T>A (p.Asn665Lys) c.1902T>A (p.Asn634Lys) c.2001T>A (p.Asn667Lys) c.2031T>A (p.Asn677Lys) c.2022T>A (p.Asn674Lys) c.1992T>A (p.Asn664Lys) c.1935T>A (p.Asn645Lys) c.1881T>A (p.Asn627Lys) c.1674T>A (p.Asn558Lys) c.2088T>A (p.Asn696Lys) c.2082T>A (p.Asn694Lys) c.2079T>A (p.Asn693Lys) c.2139T>A (p.Asn713Lys) c.2130T>A (p.Asn710Lys) c.2049T>A (p.Asn683Lys) c.1998T>A (p.Asn666Lys) | dbSNP |
| 14 | g.33800287T>C | CA486093002 | NPAS3 | c.1980T>C (p.Asn660=) c.1989T>C (p.Asn663=) c.1880T>C c.793+2706T>C c.1884T>C (p.Asn628=) c.1941T>C (p.Asn647=) c.1890T>C (p.Asn630=) c.1995T>C (p.Asn665=) c.1902T>C (p.Asn634=) c.2001T>C (p.Asn667=) c.2031T>C (p.Asn677=) c.2022T>C (p.Asn674=) c.1992T>C (p.Asn664=) c.1935T>C (p.Asn645=) c.1881T>C (p.Asn627=) c.1674T>C (p.Asn558=) c.2088T>C (p.Asn696=) c.2082T>C (p.Asn694=) c.2079T>C (p.Asn693=) c.2139T>C (p.Asn713=) c.2130T>C (p.Asn710=) c.2049T>C (p.Asn683=) c.1998T>C (p.Asn666=) | dbSNP gnomAD v4 |
| 14 | g.33800287T>G | CA389413368 | NPAS3 | c.1980T>G (p.Asn660Lys) c.1989T>G (p.Asn663Lys) c.1880T>G c.793+2706T>G c.1884T>G (p.Asn628Lys) c.1941T>G (p.Asn647Lys) c.1890T>G (p.Asn630Lys) c.1995T>G (p.Asn665Lys) c.1902T>G (p.Asn634Lys) c.2001T>G (p.Asn667Lys) c.2031T>G (p.Asn677Lys) c.2022T>G (p.Asn674Lys) c.1992T>G (p.Asn664Lys) c.1935T>G (p.Asn645Lys) c.1881T>G (p.Asn627Lys) c.1674T>G (p.Asn558Lys) c.2088T>G (p.Asn696Lys) c.2082T>G (p.Asn694Lys) c.2079T>G (p.Asn693Lys) c.2139T>G (p.Asn713Lys) c.2130T>G (p.Asn710Lys) c.2049T>G (p.Asn683Lys) c.1998T>G (p.Asn666Lys) | |
| 14 | g.33800287T= | CA2128327220 | NPAS3 | c.1980T= (p.Asn660=) c.1989T= (p.Asn663=) c.1880T= c.793+2706T= c.1884T= (p.Asn628=) c.1941T= (p.Asn647=) c.1890T= (p.Asn630=) c.1995T= (p.Asn665=) c.1902T= (p.Asn634=) c.2001T= (p.Asn667=) c.2031T= (p.Asn677=) c.2022T= (p.Asn674=) c.1992T= (p.Asn664=) c.1935T= (p.Asn645=) c.1881T= (p.Asn627=) c.1674T= (p.Asn558=) c.2088T= (p.Asn696=) c.2082T= (p.Asn694=) c.2079T= (p.Asn693=) c.2139T= (p.Asn713=) c.2130T= (p.Asn710=) c.2049T= (p.Asn683=) c.1998T= (p.Asn666=) | |
| 14 | g.33800287_33800290del | CA2128327221 | NPAS3 | c.1980_1983del (p.Asn660LysfsTer22) c.1989_1992del (p.Asn663LysfsTer22) c.1880_1883del c.793+2706_793+2709del c.1884_1887del (p.Asn628LysfsTer22) c.1941_1944del (p.Asn647LysfsTer22) c.1890_1893del (p.Asn630LysfsTer22) c.1995_1998del (p.Asn665LysfsTer22) c.1902_1905del (p.Asn634LysfsTer22) c.2001_2004del (p.Asn667LysfsTer22) c.2031_2034del (p.Asn677LysfsTer22) c.2022_2025del (p.Asn674LysfsTer22) c.1992_1995del (p.Asn664LysfsTer22) c.1935_1938del (p.Asn645LysfsTer22) c.1881_1884del (p.Asn627LysfsTer22) c.1674_1677del (p.Asn558LysfsTer22) c.2088_2091del (p.Asn696LysfsTer22) c.2082_2085del (p.Asn694LysfsTer22) c.2079_2082del (p.Asn693LysfsTer22) c.2139_2142del (p.Asn713LysfsTer22) c.2130_2133del (p.Asn710LysfsTer22) c.2049_2052del (p.Asn683LysfsTer22) c.1998_2001del (p.Asn666LysfsTer22) | dbSNP |
| 14 | g.33800288G>A | CA389413371 | NPAS3 | c.1981G>A (p.Asp661Asn) c.1990G>A (p.Asp664Asn) c.1881G>A c.793+2707G>A c.1885G>A (p.Asp629Asn) c.1942G>A (p.Asp648Asn) c.1891G>A (p.Asp631Asn) c.1996G>A (p.Asp666Asn) c.1903G>A (p.Asp635Asn) c.2002G>A (p.Asp668Asn) c.2032G>A (p.Asp678Asn) c.2023G>A (p.Asp675Asn) c.1993G>A (p.Asp665Asn) c.1936G>A (p.Asp646Asn) c.1882G>A (p.Asp628Asn) c.1675G>A (p.Asp559Asn) c.2089G>A (p.Asp697Asn) c.2083G>A (p.Asp695Asn) c.2080G>A (p.Asp694Asn) c.2140G>A (p.Asp714Asn) c.2131G>A (p.Asp711Asn) c.2050G>A (p.Asp684Asn) c.1999G>A (p.Asp667Asn) | |
| 14 | g.33800288G>C | CA389413375 | NPAS3 | c.1981G>C (p.Asp661His) c.1990G>C (p.Asp664His) c.1881G>C c.793+2707G>C c.1885G>C (p.Asp629His) c.1942G>C (p.Asp648His) c.1891G>C (p.Asp631His) c.1996G>C (p.Asp666His) c.1903G>C (p.Asp635His) c.2002G>C (p.Asp668His) c.2032G>C (p.Asp678His) c.2023G>C (p.Asp675His) c.1993G>C (p.Asp665His) c.1936G>C (p.Asp646His) c.1882G>C (p.Asp628His) c.1675G>C (p.Asp559His) c.2089G>C (p.Asp697His) c.2083G>C (p.Asp695His) c.2080G>C (p.Asp694His) c.2140G>C (p.Asp714His) c.2131G>C (p.Asp711His) c.2050G>C (p.Asp684His) c.1999G>C (p.Asp667His) | |
| 14 | g.33800288G>T | CA389413372 | NPAS3 | c.1981G>T (p.Asp661Tyr) c.1990G>T (p.Asp664Tyr) c.1881G>T c.793+2707G>T c.1885G>T (p.Asp629Tyr) c.1942G>T (p.Asp648Tyr) c.1891G>T (p.Asp631Tyr) c.1996G>T (p.Asp666Tyr) c.1903G>T (p.Asp635Tyr) c.2002G>T (p.Asp668Tyr) c.2032G>T (p.Asp678Tyr) c.2023G>T (p.Asp675Tyr) c.1993G>T (p.Asp665Tyr) c.1936G>T (p.Asp646Tyr) c.1882G>T (p.Asp628Tyr) c.1675G>T (p.Asp559Tyr) c.2089G>T (p.Asp697Tyr) c.2083G>T (p.Asp695Tyr) c.2080G>T (p.Asp694Tyr) c.2140G>T (p.Asp714Tyr) c.2131G>T (p.Asp711Tyr) c.2050G>T (p.Asp684Tyr) c.1999G>T (p.Asp667Tyr) | |
| 14 | g.33800289A>C | CA389413377 | NPAS3 | c.1982A>C (p.Asp661Ala) c.1991A>C (p.Asp664Ala) c.1882A>C c.793+2708A>C c.1886A>C (p.Asp629Ala) c.1943A>C (p.Asp648Ala) c.1892A>C (p.Asp631Ala) c.1997A>C (p.Asp666Ala) c.1904A>C (p.Asp635Ala) c.2003A>C (p.Asp668Ala) c.2033A>C (p.Asp678Ala) c.2024A>C (p.Asp675Ala) c.1994A>C (p.Asp665Ala) c.1937A>C (p.Asp646Ala) c.1883A>C (p.Asp628Ala) c.1676A>C (p.Asp559Ala) c.2090A>C (p.Asp697Ala) c.2084A>C (p.Asp695Ala) c.2081A>C (p.Asp694Ala) c.2141A>C (p.Asp714Ala) c.2132A>C (p.Asp711Ala) c.2051A>C (p.Asp684Ala) c.2000A>C (p.Asp667Ala) | |
| 14 | g.33800289A>G | CA389413379 | NPAS3 | c.1982A>G (p.Asp661Gly) c.1991A>G (p.Asp664Gly) c.1882A>G c.793+2708A>G c.1886A>G (p.Asp629Gly) c.1943A>G (p.Asp648Gly) c.1892A>G (p.Asp631Gly) c.1997A>G (p.Asp666Gly) c.1904A>G (p.Asp635Gly) c.2003A>G (p.Asp668Gly) c.2033A>G (p.Asp678Gly) c.2024A>G (p.Asp675Gly) c.1994A>G (p.Asp665Gly) c.1937A>G (p.Asp646Gly) c.1883A>G (p.Asp628Gly) c.1676A>G (p.Asp559Gly) c.2090A>G (p.Asp697Gly) c.2084A>G (p.Asp695Gly) c.2081A>G (p.Asp694Gly) c.2141A>G (p.Asp714Gly) c.2132A>G (p.Asp711Gly) c.2051A>G (p.Asp684Gly) c.2000A>G (p.Asp667Gly) | |
| 14 | g.33800289A>T | CA389413381 | NPAS3 | c.1982A>T (p.Asp661Val) c.1991A>T (p.Asp664Val) c.1882A>T c.793+2708A>T c.1886A>T (p.Asp629Val) c.1943A>T (p.Asp648Val) c.1892A>T (p.Asp631Val) c.1997A>T (p.Asp666Val) c.1904A>T (p.Asp635Val) c.2003A>T (p.Asp668Val) c.2033A>T (p.Asp678Val) c.2024A>T (p.Asp675Val) c.1994A>T (p.Asp665Val) c.1937A>T (p.Asp646Val) c.1883A>T (p.Asp628Val) c.1676A>T (p.Asp559Val) c.2090A>T (p.Asp697Val) c.2084A>T (p.Asp695Val) c.2081A>T (p.Asp694Val) c.2141A>T (p.Asp714Val) c.2132A>T (p.Asp711Val) c.2051A>T (p.Asp684Val) c.2000A>T (p.Asp667Val) | |
| 14 | g.33800290C>A | CA389413383 | NPAS3 | c.1983C>A (p.Asp661Glu) c.1992C>A (p.Asp664Glu) c.1883C>A c.793+2709C>A c.1887C>A (p.Asp629Glu) c.1944C>A (p.Asp648Glu) c.1893C>A (p.Asp631Glu) c.1998C>A (p.Asp666Glu) c.1905C>A (p.Asp635Glu) c.2004C>A (p.Asp668Glu) c.2034C>A (p.Asp678Glu) c.2025C>A (p.Asp675Glu) c.1995C>A (p.Asp665Glu) c.1938C>A (p.Asp646Glu) c.1884C>A (p.Asp628Glu) c.1677C>A (p.Asp559Glu) c.2091C>A (p.Asp697Glu) c.2085C>A (p.Asp695Glu) c.2082C>A (p.Asp694Glu) c.2142C>A (p.Asp714Glu) c.2133C>A (p.Asp711Glu) c.2052C>A (p.Asp684Glu) c.2001C>A (p.Asp667Glu) | |
| 14 | g.33800290C>G | CA389413385 | NPAS3 | c.1983C>G (p.Asp661Glu) c.1992C>G (p.Asp664Glu) c.1883C>G c.793+2709C>G c.1887C>G (p.Asp629Glu) c.1944C>G (p.Asp648Glu) c.1893C>G (p.Asp631Glu) c.1998C>G (p.Asp666Glu) c.1905C>G (p.Asp635Glu) c.2004C>G (p.Asp668Glu) c.2034C>G (p.Asp678Glu) c.2025C>G (p.Asp675Glu) c.1995C>G (p.Asp665Glu) c.1938C>G (p.Asp646Glu) c.1884C>G (p.Asp628Glu) c.1677C>G (p.Asp559Glu) c.2091C>G (p.Asp697Glu) c.2085C>G (p.Asp695Glu) c.2082C>G (p.Asp694Glu) c.2142C>G (p.Asp714Glu) c.2133C>G (p.Asp711Glu) c.2052C>G (p.Asp684Glu) c.2001C>G (p.Asp667Glu) | gnomAD v4 |
| 14 | g.33800290C>T | CA486093003 | NPAS3 | c.1983C>T (p.Asp661=) c.1992C>T (p.Asp664=) c.1883C>T c.793+2709C>T c.1887C>T (p.Asp629=) c.1944C>T (p.Asp648=) c.1893C>T (p.Asp631=) c.1998C>T (p.Asp666=) c.1905C>T (p.Asp635=) c.2004C>T (p.Asp668=) c.2034C>T (p.Asp678=) c.2025C>T (p.Asp675=) c.1995C>T (p.Asp665=) c.1938C>T (p.Asp646=) c.1884C>T (p.Asp628=) c.1677C>T (p.Asp559=) c.2091C>T (p.Asp697=) c.2085C>T (p.Asp695=) c.2082C>T (p.Asp694=) c.2142C>T (p.Asp714=) c.2133C>T (p.Asp711=) c.2052C>T (p.Asp684=) c.2001C>T (p.Asp667=) | gnomAD v4 |
| 14 | g.33800291A>C | CA389413389 | NPAS3 | c.1984A>C (p.Ser662Arg) c.1993A>C (p.Ser665Arg) c.1884A>C c.793+2710A>C c.1888A>C (p.Ser630Arg) c.1945A>C (p.Ser649Arg) c.1894A>C (p.Ser632Arg) c.1999A>C (p.Ser667Arg) c.1906A>C (p.Ser636Arg) c.2005A>C (p.Ser669Arg) c.2035A>C (p.Ser679Arg) c.2026A>C (p.Ser676Arg) c.1996A>C (p.Ser666Arg) c.1939A>C (p.Ser647Arg) c.1885A>C (p.Ser629Arg) c.1678A>C (p.Ser560Arg) c.2092A>C (p.Ser698Arg) c.2086A>C (p.Ser696Arg) c.2083A>C (p.Ser695Arg) c.2143A>C (p.Ser715Arg) c.2134A>C (p.Ser712Arg) c.2053A>C (p.Ser685Arg) c.2002A>C (p.Ser668Arg) | |
| 14 | g.33800291A>G | CA389413390 | NPAS3 | c.1984A>G (p.Ser662Gly) c.1993A>G (p.Ser665Gly) c.1884A>G c.793+2710A>G c.1888A>G (p.Ser630Gly) c.1945A>G (p.Ser649Gly) c.1894A>G (p.Ser632Gly) c.1999A>G (p.Ser667Gly) c.1906A>G (p.Ser636Gly) c.2005A>G (p.Ser669Gly) c.2035A>G (p.Ser679Gly) c.2026A>G (p.Ser676Gly) c.1996A>G (p.Ser666Gly) c.1939A>G (p.Ser647Gly) c.1885A>G (p.Ser629Gly) c.1678A>G (p.Ser560Gly) c.2092A>G (p.Ser698Gly) c.2086A>G (p.Ser696Gly) c.2083A>G (p.Ser695Gly) c.2143A>G (p.Ser715Gly) c.2134A>G (p.Ser712Gly) c.2053A>G (p.Ser685Gly) c.2002A>G (p.Ser668Gly) | gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.33800291A>T | CA389413392 | NPAS3 | c.1984A>T (p.Ser662Cys) c.1993A>T (p.Ser665Cys) c.1884A>T c.793+2710A>T c.1888A>T (p.Ser630Cys) c.1945A>T (p.Ser649Cys) c.1894A>T (p.Ser632Cys) c.1999A>T (p.Ser667Cys) c.1906A>T (p.Ser636Cys) c.2005A>T (p.Ser669Cys) c.2035A>T (p.Ser679Cys) c.2026A>T (p.Ser676Cys) c.1996A>T (p.Ser666Cys) c.1939A>T (p.Ser647Cys) c.1885A>T (p.Ser629Cys) c.1678A>T (p.Ser560Cys) c.2092A>T (p.Ser698Cys) c.2086A>T (p.Ser696Cys) c.2083A>T (p.Ser695Cys) c.2143A>T (p.Ser715Cys) c.2134A>T (p.Ser712Cys) c.2053A>T (p.Ser685Cys) c.2002A>T (p.Ser668Cys) | |
| 14 | g.33800292G>A | CA389413393 | NPAS3 | c.1985G>A (p.Ser662Asn) c.1994G>A (p.Ser665Asn) c.1885G>A c.793+2711G>A c.1889G>A (p.Ser630Asn) c.1946G>A (p.Ser649Asn) c.1895G>A (p.Ser632Asn) c.2000G>A (p.Ser667Asn) c.1907G>A (p.Ser636Asn) c.2006G>A (p.Ser669Asn) c.2036G>A (p.Ser679Asn) c.2027G>A (p.Ser676Asn) c.1997G>A (p.Ser666Asn) c.1940G>A (p.Ser647Asn) c.1886G>A (p.Ser629Asn) c.1679G>A (p.Ser560Asn) c.2093G>A (p.Ser698Asn) c.2087G>A (p.Ser696Asn) c.2084G>A (p.Ser695Asn) c.2144G>A (p.Ser715Asn) c.2135G>A (p.Ser712Asn) c.2054G>A (p.Ser685Asn) c.2003G>A (p.Ser668Asn) | |
| 14 | g.33800292G>C | CA389413395 | NPAS3 | c.1985G>C (p.Ser662Thr) c.1994G>C (p.Ser665Thr) c.1885G>C c.793+2711G>C c.1889G>C (p.Ser630Thr) c.1946G>C (p.Ser649Thr) c.1895G>C (p.Ser632Thr) c.2000G>C (p.Ser667Thr) c.1907G>C (p.Ser636Thr) c.2006G>C (p.Ser669Thr) c.2036G>C (p.Ser679Thr) c.2027G>C (p.Ser676Thr) c.1997G>C (p.Ser666Thr) c.1940G>C (p.Ser647Thr) c.1886G>C (p.Ser629Thr) c.1679G>C (p.Ser560Thr) c.2093G>C (p.Ser698Thr) c.2087G>C (p.Ser696Thr) c.2084G>C (p.Ser695Thr) c.2144G>C (p.Ser715Thr) c.2135G>C (p.Ser712Thr) c.2054G>C (p.Ser685Thr) c.2003G>C (p.Ser668Thr) | |
| 14 | g.33800292G>T | CA389413396 | NPAS3 | c.1985G>T (p.Ser662Ile) c.1994G>T (p.Ser665Ile) c.1885G>T c.793+2711G>T c.1889G>T (p.Ser630Ile) c.1946G>T (p.Ser649Ile) c.1895G>T (p.Ser632Ile) c.2000G>T (p.Ser667Ile) c.1907G>T (p.Ser636Ile) c.2006G>T (p.Ser669Ile) c.2036G>T (p.Ser679Ile) c.2027G>T (p.Ser676Ile) c.1997G>T (p.Ser666Ile) c.1940G>T (p.Ser647Ile) c.1886G>T (p.Ser629Ile) c.1679G>T (p.Ser560Ile) c.2093G>T (p.Ser698Ile) c.2087G>T (p.Ser696Ile) c.2084G>T (p.Ser695Ile) c.2144G>T (p.Ser715Ile) c.2135G>T (p.Ser712Ile) c.2054G>T (p.Ser685Ile) c.2003G>T (p.Ser668Ile) | |
| 14 | g.33800293C>A | CA389413399 | NPAS3 | c.1986C>A (p.Ser662Arg) c.1995C>A (p.Ser665Arg) c.1886C>A c.793+2712C>A c.1890C>A (p.Ser630Arg) c.1947C>A (p.Ser649Arg) c.1896C>A (p.Ser632Arg) c.2001C>A (p.Ser667Arg) c.1908C>A (p.Ser636Arg) c.2007C>A (p.Ser669Arg) c.2037C>A (p.Ser679Arg) c.2028C>A (p.Ser676Arg) c.1998C>A (p.Ser666Arg) c.1941C>A (p.Ser647Arg) c.1887C>A (p.Ser629Arg) c.1680C>A (p.Ser560Arg) c.2094C>A (p.Ser698Arg) c.2088C>A (p.Ser696Arg) c.2085C>A (p.Ser695Arg) c.2145C>A (p.Ser715Arg) c.2136C>A (p.Ser712Arg) c.2055C>A (p.Ser685Arg) c.2004C>A (p.Ser668Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800293C= | CA2128327223 | NPAS3 | c.1986C= (p.Ser662=) c.1995C= (p.Ser665=) c.1886C= c.793+2712C= c.1890C= (p.Ser630=) c.1947C= (p.Ser649=) c.1896C= (p.Ser632=) c.2001C= (p.Ser667=) c.1908C= (p.Ser636=) c.2007C= (p.Ser669=) c.2037C= (p.Ser679=) c.2028C= (p.Ser676=) c.1998C= (p.Ser666=) c.1941C= (p.Ser647=) c.1887C= (p.Ser629=) c.1680C= (p.Ser560=) c.2094C= (p.Ser698=) c.2088C= (p.Ser696=) c.2085C= (p.Ser695=) c.2145C= (p.Ser715=) c.2136C= (p.Ser712=) c.2055C= (p.Ser685=) c.2004C= (p.Ser668=) | |
| 14 | g.33800293C>G | CA389413401 | NPAS3 | c.1986C>G (p.Ser662Arg) c.1995C>G (p.Ser665Arg) c.1886C>G c.793+2712C>G c.1890C>G (p.Ser630Arg) c.1947C>G (p.Ser649Arg) c.1896C>G (p.Ser632Arg) c.2001C>G (p.Ser667Arg) c.1908C>G (p.Ser636Arg) c.2007C>G (p.Ser669Arg) c.2037C>G (p.Ser679Arg) c.2028C>G (p.Ser676Arg) c.1998C>G (p.Ser666Arg) c.1941C>G (p.Ser647Arg) c.1887C>G (p.Ser629Arg) c.1680C>G (p.Ser560Arg) c.2094C>G (p.Ser698Arg) c.2088C>G (p.Ser696Arg) c.2085C>G (p.Ser695Arg) c.2145C>G (p.Ser715Arg) c.2136C>G (p.Ser712Arg) c.2055C>G (p.Ser685Arg) c.2004C>G (p.Ser668Arg) | |
| 14 | g.33800293C>T | CA486093004 | NPAS3 | c.1986C>T (p.Ser662=) c.1995C>T (p.Ser665=) c.1886C>T c.793+2712C>T c.1890C>T (p.Ser630=) c.1947C>T (p.Ser649=) c.1896C>T (p.Ser632=) c.2001C>T (p.Ser667=) c.1908C>T (p.Ser636=) c.2007C>T (p.Ser669=) c.2037C>T (p.Ser679=) c.2028C>T (p.Ser676=) c.1998C>T (p.Ser666=) c.1941C>T (p.Ser647=) c.1887C>T (p.Ser629=) c.1680C>T (p.Ser560=) c.2094C>T (p.Ser698=) c.2088C>T (p.Ser696=) c.2085C>T (p.Ser695=) c.2145C>T (p.Ser715=) c.2136C>T (p.Ser712=) c.2055C>T (p.Ser685=) c.2004C>T (p.Ser668=) | |
| 14 | g.33800294A>C | CA389413406 | NPAS3 | c.1987A>C (p.Ser663Arg) c.1996A>C (p.Ser666Arg) c.1887A>C c.793+2713A>C c.1891A>C (p.Ser631Arg) c.1948A>C (p.Ser650Arg) c.1897A>C (p.Ser633Arg) c.2002A>C (p.Ser668Arg) c.1909A>C (p.Ser637Arg) c.2008A>C (p.Ser670Arg) c.2038A>C (p.Ser680Arg) c.2029A>C (p.Ser677Arg) c.1999A>C (p.Ser667Arg) c.1942A>C (p.Ser648Arg) c.1888A>C (p.Ser630Arg) c.1681A>C (p.Ser561Arg) c.2095A>C (p.Ser699Arg) c.2089A>C (p.Ser697Arg) c.2086A>C (p.Ser696Arg) c.2146A>C (p.Ser716Arg) c.2137A>C (p.Ser713Arg) c.2056A>C (p.Ser686Arg) c.2005A>C (p.Ser669Arg) | |
| 14 | g.33800294A>G | CA389413403 | NPAS3 | c.1987A>G (p.Ser663Gly) c.1996A>G (p.Ser666Gly) c.1887A>G c.793+2713A>G c.1891A>G (p.Ser631Gly) c.1948A>G (p.Ser650Gly) c.1897A>G (p.Ser633Gly) c.2002A>G (p.Ser668Gly) c.1909A>G (p.Ser637Gly) c.2008A>G (p.Ser670Gly) c.2038A>G (p.Ser680Gly) c.2029A>G (p.Ser677Gly) c.1999A>G (p.Ser667Gly) c.1942A>G (p.Ser648Gly) c.1888A>G (p.Ser630Gly) c.1681A>G (p.Ser561Gly) c.2095A>G (p.Ser699Gly) c.2089A>G (p.Ser697Gly) c.2086A>G (p.Ser696Gly) c.2146A>G (p.Ser716Gly) c.2137A>G (p.Ser713Gly) c.2056A>G (p.Ser686Gly) c.2005A>G (p.Ser669Gly) | |
| 14 | g.33800294A>T | CA389413405 | NPAS3 | c.1987A>T (p.Ser663Cys) c.1996A>T (p.Ser666Cys) c.1887A>T c.793+2713A>T c.1891A>T (p.Ser631Cys) c.1948A>T (p.Ser650Cys) c.1897A>T (p.Ser633Cys) c.2002A>T (p.Ser668Cys) c.1909A>T (p.Ser637Cys) c.2008A>T (p.Ser670Cys) c.2038A>T (p.Ser680Cys) c.2029A>T (p.Ser677Cys) c.1999A>T (p.Ser667Cys) c.1942A>T (p.Ser648Cys) c.1888A>T (p.Ser630Cys) c.1681A>T (p.Ser561Cys) c.2095A>T (p.Ser699Cys) c.2089A>T (p.Ser697Cys) c.2086A>T (p.Ser696Cys) c.2146A>T (p.Ser716Cys) c.2137A>T (p.Ser713Cys) c.2056A>T (p.Ser686Cys) c.2005A>T (p.Ser669Cys) | |
| 14 | g.33800295G>A | CA389413407 | NPAS3 | c.1988G>A (p.Ser663Asn) c.1997G>A (p.Ser666Asn) c.1888G>A c.793+2714G>A c.1892G>A (p.Ser631Asn) c.1949G>A (p.Ser650Asn) c.1898G>A (p.Ser633Asn) c.2003G>A (p.Ser668Asn) c.1910G>A (p.Ser637Asn) c.2009G>A (p.Ser670Asn) c.2039G>A (p.Ser680Asn) c.2030G>A (p.Ser677Asn) c.2000G>A (p.Ser667Asn) c.1943G>A (p.Ser648Asn) c.1889G>A (p.Ser630Asn) c.1682G>A (p.Ser561Asn) c.2096G>A (p.Ser699Asn) c.2090G>A (p.Ser697Asn) c.2087G>A (p.Ser696Asn) c.2147G>A (p.Ser716Asn) c.2138G>A (p.Ser713Asn) c.2057G>A (p.Ser686Asn) c.2006G>A (p.Ser669Asn) | gnomAD v4 |
| 14 | g.33800295G>C | CA389413409 | NPAS3 | c.1988G>C (p.Ser663Thr) c.1997G>C (p.Ser666Thr) c.1888G>C c.793+2714G>C c.1892G>C (p.Ser631Thr) c.1949G>C (p.Ser650Thr) c.1898G>C (p.Ser633Thr) c.2003G>C (p.Ser668Thr) c.1910G>C (p.Ser637Thr) c.2009G>C (p.Ser670Thr) c.2039G>C (p.Ser680Thr) c.2030G>C (p.Ser677Thr) c.2000G>C (p.Ser667Thr) c.1943G>C (p.Ser648Thr) c.1889G>C (p.Ser630Thr) c.1682G>C (p.Ser561Thr) c.2096G>C (p.Ser699Thr) c.2090G>C (p.Ser697Thr) c.2087G>C (p.Ser696Thr) c.2147G>C (p.Ser716Thr) c.2138G>C (p.Ser713Thr) c.2057G>C (p.Ser686Thr) c.2006G>C (p.Ser669Thr) | |
| 14 | g.33800295G>T | CA389413411 | NPAS3 | c.1988G>T (p.Ser663Ile) c.1997G>T (p.Ser666Ile) c.1888G>T c.793+2714G>T c.1892G>T (p.Ser631Ile) c.1949G>T (p.Ser650Ile) c.1898G>T (p.Ser633Ile) c.2003G>T (p.Ser668Ile) c.1910G>T (p.Ser637Ile) c.2009G>T (p.Ser670Ile) c.2039G>T (p.Ser680Ile) c.2030G>T (p.Ser677Ile) c.2000G>T (p.Ser667Ile) c.1943G>T (p.Ser648Ile) c.1889G>T (p.Ser630Ile) c.1682G>T (p.Ser561Ile) c.2096G>T (p.Ser699Ile) c.2090G>T (p.Ser697Ile) c.2087G>T (p.Ser696Ile) c.2147G>T (p.Ser716Ile) c.2138G>T (p.Ser713Ile) c.2057G>T (p.Ser686Ile) c.2006G>T (p.Ser669Ile) | |
| 14 | g.33800296C>A | CA389413412 | NPAS3 | c.1989C>A (p.Ser663Arg) c.1998C>A (p.Ser666Arg) c.1889C>A c.793+2715C>A c.1893C>A (p.Ser631Arg) c.1950C>A (p.Ser650Arg) c.1899C>A (p.Ser633Arg) c.2004C>A (p.Ser668Arg) c.1911C>A (p.Ser637Arg) c.2010C>A (p.Ser670Arg) c.2040C>A (p.Ser680Arg) c.2031C>A (p.Ser677Arg) c.2001C>A (p.Ser667Arg) c.1944C>A (p.Ser648Arg) c.1890C>A (p.Ser630Arg) c.1683C>A (p.Ser561Arg) c.2097C>A (p.Ser699Arg) c.2091C>A (p.Ser697Arg) c.2088C>A (p.Ser696Arg) c.2148C>A (p.Ser716Arg) c.2139C>A (p.Ser713Arg) c.2058C>A (p.Ser686Arg) c.2007C>A (p.Ser669Arg) | |
| 14 | g.33800296C>G | CA389413414 | NPAS3 | c.1989C>G (p.Ser663Arg) c.1998C>G (p.Ser666Arg) c.1889C>G c.793+2715C>G c.1893C>G (p.Ser631Arg) c.1950C>G (p.Ser650Arg) c.1899C>G (p.Ser633Arg) c.2004C>G (p.Ser668Arg) c.1911C>G (p.Ser637Arg) c.2010C>G (p.Ser670Arg) c.2040C>G (p.Ser680Arg) c.2031C>G (p.Ser677Arg) c.2001C>G (p.Ser667Arg) c.1944C>G (p.Ser648Arg) c.1890C>G (p.Ser630Arg) c.1683C>G (p.Ser561Arg) c.2097C>G (p.Ser699Arg) c.2091C>G (p.Ser697Arg) c.2088C>G (p.Ser696Arg) c.2148C>G (p.Ser716Arg) c.2139C>G (p.Ser713Arg) c.2058C>G (p.Ser686Arg) c.2007C>G (p.Ser669Arg) | |
| 14 | g.33800296C>T | CA486093005 | NPAS3 | c.1989C>T (p.Ser663=) c.1998C>T (p.Ser666=) c.1889C>T c.793+2715C>T c.1893C>T (p.Ser631=) c.1950C>T (p.Ser650=) c.1899C>T (p.Ser633=) c.2004C>T (p.Ser668=) c.1911C>T (p.Ser637=) c.2010C>T (p.Ser670=) c.2040C>T (p.Ser680=) c.2031C>T (p.Ser677=) c.2001C>T (p.Ser667=) c.1944C>T (p.Ser648=) c.1890C>T (p.Ser630=) c.1683C>T (p.Ser561=) c.2097C>T (p.Ser699=) c.2091C>T (p.Ser697=) c.2088C>T (p.Ser696=) c.2148C>T (p.Ser716=) c.2139C>T (p.Ser713=) c.2058C>T (p.Ser686=) c.2007C>T (p.Ser669=) | |
| 14 | g.33800297A>C | CA389413416 | NPAS3 | c.1990A>C (p.Ile664Leu) c.1999A>C (p.Ile667Leu) c.1890A>C c.793+2716A>C c.1894A>C (p.Ile632Leu) c.1951A>C (p.Ile651Leu) c.1900A>C (p.Ile634Leu) c.2005A>C (p.Ile669Leu) c.1912A>C (p.Ile638Leu) c.2011A>C (p.Ile671Leu) c.2041A>C (p.Ile681Leu) c.2032A>C (p.Ile678Leu) c.2002A>C (p.Ile668Leu) c.1945A>C (p.Ile649Leu) c.1891A>C (p.Ile631Leu) c.1684A>C (p.Ile562Leu) c.2098A>C (p.Ile700Leu) c.2092A>C (p.Ile698Leu) c.2089A>C (p.Ile697Leu) c.2149A>C (p.Ile717Leu) c.2140A>C (p.Ile714Leu) c.2059A>C (p.Ile687Leu) c.2008A>C (p.Ile670Leu) | |
| 14 | g.33800297A>G | CA389413417 | NPAS3 | c.1990A>G (p.Ile664Val) c.1999A>G (p.Ile667Val) c.1890A>G c.793+2716A>G c.1894A>G (p.Ile632Val) c.1951A>G (p.Ile651Val) c.1900A>G (p.Ile634Val) c.2005A>G (p.Ile669Val) c.1912A>G (p.Ile638Val) c.2011A>G (p.Ile671Val) c.2041A>G (p.Ile681Val) c.2032A>G (p.Ile678Val) c.2002A>G (p.Ile668Val) c.1945A>G (p.Ile649Val) c.1891A>G (p.Ile631Val) c.1684A>G (p.Ile562Val) c.2098A>G (p.Ile700Val) c.2092A>G (p.Ile698Val) c.2089A>G (p.Ile697Val) c.2149A>G (p.Ile717Val) c.2140A>G (p.Ile714Val) c.2059A>G (p.Ile687Val) c.2008A>G (p.Ile670Val) | gnomAD v4 |
| 14 | g.33800297A>T | CA389413418 | NPAS3 | c.1990A>T (p.Ile664Phe) c.1999A>T (p.Ile667Phe) c.1890A>T c.793+2716A>T c.1894A>T (p.Ile632Phe) c.1951A>T (p.Ile651Phe) c.1900A>T (p.Ile634Phe) c.2005A>T (p.Ile669Phe) c.1912A>T (p.Ile638Phe) c.2011A>T (p.Ile671Phe) c.2041A>T (p.Ile681Phe) c.2032A>T (p.Ile678Phe) c.2002A>T (p.Ile668Phe) c.1945A>T (p.Ile649Phe) c.1891A>T (p.Ile631Phe) c.1684A>T (p.Ile562Phe) c.2098A>T (p.Ile700Phe) c.2092A>T (p.Ile698Phe) c.2089A>T (p.Ile697Phe) c.2149A>T (p.Ile717Phe) c.2140A>T (p.Ile714Phe) c.2059A>T (p.Ile687Phe) c.2008A>T (p.Ile670Phe) | |
| 14 | g.33800298T>A | CA389413421 | NPAS3 | c.1991T>A (p.Ile664Asn) c.2000T>A (p.Ile667Asn) c.1891T>A c.793+2717T>A c.1895T>A (p.Ile632Asn) c.1952T>A (p.Ile651Asn) c.1901T>A (p.Ile634Asn) c.2006T>A (p.Ile669Asn) c.1913T>A (p.Ile638Asn) c.2012T>A (p.Ile671Asn) c.2042T>A (p.Ile681Asn) c.2033T>A (p.Ile678Asn) c.2003T>A (p.Ile668Asn) c.1946T>A (p.Ile649Asn) c.1892T>A (p.Ile631Asn) c.1685T>A (p.Ile562Asn) c.2099T>A (p.Ile700Asn) c.2093T>A (p.Ile698Asn) c.2090T>A (p.Ile697Asn) c.2150T>A (p.Ile717Asn) c.2141T>A (p.Ile714Asn) c.2060T>A (p.Ile687Asn) c.2009T>A (p.Ile670Asn) | |
| 14 | g.33800298T>C | CA389413422 | NPAS3 | c.1991T>C (p.Ile664Thr) c.2000T>C (p.Ile667Thr) c.1891T>C c.793+2717T>C c.1895T>C (p.Ile632Thr) c.1952T>C (p.Ile651Thr) c.1901T>C (p.Ile634Thr) c.2006T>C (p.Ile669Thr) c.1913T>C (p.Ile638Thr) c.2012T>C (p.Ile671Thr) c.2042T>C (p.Ile681Thr) c.2033T>C (p.Ile678Thr) c.2003T>C (p.Ile668Thr) c.1946T>C (p.Ile649Thr) c.1892T>C (p.Ile631Thr) c.1685T>C (p.Ile562Thr) c.2099T>C (p.Ile700Thr) c.2093T>C (p.Ile698Thr) c.2090T>C (p.Ile697Thr) c.2150T>C (p.Ile717Thr) c.2141T>C (p.Ile714Thr) c.2060T>C (p.Ile687Thr) c.2009T>C (p.Ile670Thr) | |
| 14 | g.33800298T>G | CA389413423 | NPAS3 | c.1991T>G (p.Ile664Ser) c.2000T>G (p.Ile667Ser) c.1891T>G c.793+2717T>G c.1895T>G (p.Ile632Ser) c.1952T>G (p.Ile651Ser) c.1901T>G (p.Ile634Ser) c.2006T>G (p.Ile669Ser) c.1913T>G (p.Ile638Ser) c.2012T>G (p.Ile671Ser) c.2042T>G (p.Ile681Ser) c.2033T>G (p.Ile678Ser) c.2003T>G (p.Ile668Ser) c.1946T>G (p.Ile649Ser) c.1892T>G (p.Ile631Ser) c.1685T>G (p.Ile562Ser) c.2099T>G (p.Ile700Ser) c.2093T>G (p.Ile698Ser) c.2090T>G (p.Ile697Ser) c.2150T>G (p.Ile717Ser) c.2141T>G (p.Ile714Ser) c.2060T>G (p.Ile687Ser) c.2009T>G (p.Ile670Ser) | |
| 14 | g.33800299C>A | CA486093006 | NPAS3 | c.1992C>A (p.Ile664=) c.2001C>A (p.Ile667=) c.1892C>A c.793+2718C>A c.1896C>A (p.Ile632=) c.1953C>A (p.Ile651=) c.1902C>A (p.Ile634=) c.2007C>A (p.Ile669=) c.1914C>A (p.Ile638=) c.2013C>A (p.Ile671=) c.2043C>A (p.Ile681=) c.2034C>A (p.Ile678=) c.2004C>A (p.Ile668=) c.1947C>A (p.Ile649=) c.1893C>A (p.Ile631=) c.1686C>A (p.Ile562=) c.2100C>A (p.Ile700=) c.2094C>A (p.Ile698=) c.2091C>A (p.Ile697=) c.2151C>A (p.Ile717=) c.2142C>A (p.Ile714=) c.2061C>A (p.Ile687=) c.2010C>A (p.Ile670=) | |
| 14 | g.33800299C>G | CA389413425 | NPAS3 | c.1992C>G (p.Ile664Met) c.2001C>G (p.Ile667Met) c.1892C>G c.793+2718C>G c.1896C>G (p.Ile632Met) c.1953C>G (p.Ile651Met) c.1902C>G (p.Ile634Met) c.2007C>G (p.Ile669Met) c.1914C>G (p.Ile638Met) c.2013C>G (p.Ile671Met) c.2043C>G (p.Ile681Met) c.2034C>G (p.Ile678Met) c.2004C>G (p.Ile668Met) c.1947C>G (p.Ile649Met) c.1893C>G (p.Ile631Met) c.1686C>G (p.Ile562Met) c.2100C>G (p.Ile700Met) c.2094C>G (p.Ile698Met) c.2091C>G (p.Ile697Met) c.2151C>G (p.Ile717Met) c.2142C>G (p.Ile714Met) c.2061C>G (p.Ile687Met) c.2010C>G (p.Ile670Met) | |
| 14 | g.33800299C>T | CA486093007 | NPAS3 | c.1992C>T (p.Ile664=) c.2001C>T (p.Ile667=) c.1892C>T c.793+2718C>T c.1896C>T (p.Ile632=) c.1953C>T (p.Ile651=) c.1902C>T (p.Ile634=) c.2007C>T (p.Ile669=) c.1914C>T (p.Ile638=) c.2013C>T (p.Ile671=) c.2043C>T (p.Ile681=) c.2034C>T (p.Ile678=) c.2004C>T (p.Ile668=) c.1947C>T (p.Ile649=) c.1893C>T (p.Ile631=) c.1686C>T (p.Ile562=) c.2100C>T (p.Ile700=) c.2094C>T (p.Ile698=) c.2091C>T (p.Ile697=) c.2151C>T (p.Ile717=) c.2142C>T (p.Ile714=) c.2061C>T (p.Ile687=) c.2010C>T (p.Ile670=) | |
| 14 | g.33800300T>A | CA389413427 | NPAS3 | c.1993T>A (p.Trp665Arg) c.2002T>A (p.Trp668Arg) c.1893T>A c.793+2719T>A c.1897T>A (p.Trp633Arg) c.1954T>A (p.Trp652Arg) c.1903T>A (p.Trp635Arg) c.2008T>A (p.Trp670Arg) c.1915T>A (p.Trp639Arg) c.2014T>A (p.Trp672Arg) c.2044T>A (p.Trp682Arg) c.2035T>A (p.Trp679Arg) c.2005T>A (p.Trp669Arg) c.1948T>A (p.Trp650Arg) c.1894T>A (p.Trp632Arg) c.1687T>A (p.Trp563Arg) c.2101T>A (p.Trp701Arg) c.2095T>A (p.Trp699Arg) c.2092T>A (p.Trp698Arg) c.2152T>A (p.Trp718Arg) c.2143T>A (p.Trp715Arg) c.2062T>A (p.Trp688Arg) c.2011T>A (p.Trp671Arg) | |
| 14 | g.33800300T>C | CA389413429 | NPAS3 | c.1993T>C (p.Trp665Arg) c.2002T>C (p.Trp668Arg) c.1893T>C c.793+2719T>C c.1897T>C (p.Trp633Arg) c.1954T>C (p.Trp652Arg) c.1903T>C (p.Trp635Arg) c.2008T>C (p.Trp670Arg) c.1915T>C (p.Trp639Arg) c.2014T>C (p.Trp672Arg) c.2044T>C (p.Trp682Arg) c.2035T>C (p.Trp679Arg) c.2005T>C (p.Trp669Arg) c.1948T>C (p.Trp650Arg) c.1894T>C (p.Trp632Arg) c.1687T>C (p.Trp563Arg) c.2101T>C (p.Trp701Arg) c.2095T>C (p.Trp699Arg) c.2092T>C (p.Trp698Arg) c.2152T>C (p.Trp718Arg) c.2143T>C (p.Trp715Arg) c.2062T>C (p.Trp688Arg) c.2011T>C (p.Trp671Arg) | |
| 14 | g.33800300T>G | CA389413428 | NPAS3 | c.1993T>G (p.Trp665Gly) c.2002T>G (p.Trp668Gly) c.1893T>G c.793+2719T>G c.1897T>G (p.Trp633Gly) c.1954T>G (p.Trp652Gly) c.1903T>G (p.Trp635Gly) c.2008T>G (p.Trp670Gly) c.1915T>G (p.Trp639Gly) c.2014T>G (p.Trp672Gly) c.2044T>G (p.Trp682Gly) c.2035T>G (p.Trp679Gly) c.2005T>G (p.Trp669Gly) c.1948T>G (p.Trp650Gly) c.1894T>G (p.Trp632Gly) c.1687T>G (p.Trp563Gly) c.2101T>G (p.Trp701Gly) c.2095T>G (p.Trp699Gly) c.2092T>G (p.Trp698Gly) c.2152T>G (p.Trp718Gly) c.2143T>G (p.Trp715Gly) c.2062T>G (p.Trp688Gly) c.2011T>G (p.Trp671Gly) | |
| 14 | g.33800301G>A | CA389413430 | NPAS3 | c.1994G>A (p.Trp665Ter) c.2003G>A (p.Trp668Ter) c.1894G>A c.793+2720G>A c.1898G>A (p.Trp633Ter) c.1955G>A (p.Trp652Ter) c.1904G>A (p.Trp635Ter) c.2009G>A (p.Trp670Ter) c.1916G>A (p.Trp639Ter) c.2015G>A (p.Trp672Ter) c.2045G>A (p.Trp682Ter) c.2036G>A (p.Trp679Ter) c.2006G>A (p.Trp669Ter) c.1949G>A (p.Trp650Ter) c.1895G>A (p.Trp632Ter) c.1688G>A (p.Trp563Ter) c.2102G>A (p.Trp701Ter) c.2096G>A (p.Trp699Ter) c.2093G>A (p.Trp698Ter) c.2153G>A (p.Trp718Ter) c.2144G>A (p.Trp715Ter) c.2063G>A (p.Trp688Ter) c.2012G>A (p.Trp671Ter) | gnomAD v4 |
| 14 | g.33800301G>C | CA389413432 | NPAS3 | c.1994G>C (p.Trp665Ser) c.2003G>C (p.Trp668Ser) c.1894G>C c.793+2720G>C c.1898G>C (p.Trp633Ser) c.1955G>C (p.Trp652Ser) c.1904G>C (p.Trp635Ser) c.2009G>C (p.Trp670Ser) c.1916G>C (p.Trp639Ser) c.2015G>C (p.Trp672Ser) c.2045G>C (p.Trp682Ser) c.2036G>C (p.Trp679Ser) c.2006G>C (p.Trp669Ser) c.1949G>C (p.Trp650Ser) c.1895G>C (p.Trp632Ser) c.1688G>C (p.Trp563Ser) c.2102G>C (p.Trp701Ser) c.2096G>C (p.Trp699Ser) c.2093G>C (p.Trp698Ser) c.2153G>C (p.Trp718Ser) c.2144G>C (p.Trp715Ser) c.2063G>C (p.Trp688Ser) c.2012G>C (p.Trp671Ser) | |
| 14 | g.33800301G>T | CA389413434 | NPAS3 | c.1994G>T (p.Trp665Leu) c.2003G>T (p.Trp668Leu) c.1894G>T c.793+2720G>T c.1898G>T (p.Trp633Leu) c.1955G>T (p.Trp652Leu) c.1904G>T (p.Trp635Leu) c.2009G>T (p.Trp670Leu) c.1916G>T (p.Trp639Leu) c.2015G>T (p.Trp672Leu) c.2045G>T (p.Trp682Leu) c.2036G>T (p.Trp679Leu) c.2006G>T (p.Trp669Leu) c.1949G>T (p.Trp650Leu) c.1895G>T (p.Trp632Leu) c.1688G>T (p.Trp563Leu) c.2102G>T (p.Trp701Leu) c.2096G>T (p.Trp699Leu) c.2093G>T (p.Trp698Leu) c.2153G>T (p.Trp718Leu) c.2144G>T (p.Trp715Leu) c.2063G>T (p.Trp688Leu) c.2012G>T (p.Trp671Leu) | |
| 14 | g.33800302G>A | CA389413435 | NPAS3 | c.1995G>A (p.Trp665Ter) c.2004G>A (p.Trp668Ter) c.1895G>A c.793+2721G>A c.1899G>A (p.Trp633Ter) c.1956G>A (p.Trp652Ter) c.1905G>A (p.Trp635Ter) c.2010G>A (p.Trp670Ter) c.1917G>A (p.Trp639Ter) c.2016G>A (p.Trp672Ter) c.2046G>A (p.Trp682Ter) c.2037G>A (p.Trp679Ter) c.2007G>A (p.Trp669Ter) c.1950G>A (p.Trp650Ter) c.1896G>A (p.Trp632Ter) c.1689G>A (p.Trp563Ter) c.2103G>A (p.Trp701Ter) c.2097G>A (p.Trp699Ter) c.2094G>A (p.Trp698Ter) c.2154G>A (p.Trp718Ter) c.2145G>A (p.Trp715Ter) c.2064G>A (p.Trp688Ter) c.2013G>A (p.Trp671Ter) | |
| 14 | g.33800302G>C | CA389413437 | NPAS3 | c.1995G>C (p.Trp665Cys) c.2004G>C (p.Trp668Cys) c.1895G>C c.793+2721G>C c.1899G>C (p.Trp633Cys) c.1956G>C (p.Trp652Cys) c.1905G>C (p.Trp635Cys) c.2010G>C (p.Trp670Cys) c.1917G>C (p.Trp639Cys) c.2016G>C (p.Trp672Cys) c.2046G>C (p.Trp682Cys) c.2037G>C (p.Trp679Cys) c.2007G>C (p.Trp669Cys) c.1950G>C (p.Trp650Cys) c.1896G>C (p.Trp632Cys) c.1689G>C (p.Trp563Cys) c.2103G>C (p.Trp701Cys) c.2097G>C (p.Trp699Cys) c.2094G>C (p.Trp698Cys) c.2154G>C (p.Trp718Cys) c.2145G>C (p.Trp715Cys) c.2064G>C (p.Trp688Cys) c.2013G>C (p.Trp671Cys) | |
| 14 | g.33800302G>T | CA389413439 | NPAS3 | c.1995G>T (p.Trp665Cys) c.2004G>T (p.Trp668Cys) c.1895G>T c.793+2721G>T c.1899G>T (p.Trp633Cys) c.1956G>T (p.Trp652Cys) c.1905G>T (p.Trp635Cys) c.2010G>T (p.Trp670Cys) c.1917G>T (p.Trp639Cys) c.2016G>T (p.Trp672Cys) c.2046G>T (p.Trp682Cys) c.2037G>T (p.Trp679Cys) c.2007G>T (p.Trp669Cys) c.1950G>T (p.Trp650Cys) c.1896G>T (p.Trp632Cys) c.1689G>T (p.Trp563Cys) c.2103G>T (p.Trp701Cys) c.2097G>T (p.Trp699Cys) c.2094G>T (p.Trp698Cys) c.2154G>T (p.Trp718Cys) c.2145G>T (p.Trp715Cys) c.2064G>T (p.Trp688Cys) c.2013G>T (p.Trp671Cys) | |
| 14 | g.33800303A= | CA2128327225 | NPAS3 | c.1996A= (p.Asn666=) c.2005A= (p.Asn669=) c.1896A= c.793+2722A= c.1900A= (p.Asn634=) c.1957A= (p.Asn653=) c.1906A= (p.Asn636=) c.2011A= (p.Asn671=) c.1918A= (p.Asn640=) c.2017A= (p.Asn673=) c.2047A= (p.Asn683=) c.2038A= (p.Asn680=) c.2008A= (p.Asn670=) c.1951A= (p.Asn651=) c.1897A= (p.Asn633=) c.1690A= (p.Asn564=) c.2104A= (p.Asn702=) c.2098A= (p.Asn700=) c.2095A= (p.Asn699=) c.2155A= (p.Asn719=) c.2146A= (p.Asn716=) c.2065A= (p.Asn689=) c.2014A= (p.Asn672=) | |
| 14 | g.33800303A>C | CA389413440 | NPAS3 | c.1996A>C (p.Asn666His) c.2005A>C (p.Asn669His) c.1896A>C c.793+2722A>C c.1900A>C (p.Asn634His) c.1957A>C (p.Asn653His) c.1906A>C (p.Asn636His) c.2011A>C (p.Asn671His) c.1918A>C (p.Asn640His) c.2017A>C (p.Asn673His) c.2047A>C (p.Asn683His) c.2038A>C (p.Asn680His) c.2008A>C (p.Asn670His) c.1951A>C (p.Asn651His) c.1897A>C (p.Asn633His) c.1690A>C (p.Asn564His) c.2104A>C (p.Asn702His) c.2098A>C (p.Asn700His) c.2095A>C (p.Asn699His) c.2155A>C (p.Asn719His) c.2146A>C (p.Asn716His) c.2065A>C (p.Asn689His) c.2014A>C (p.Asn672His) | |
| 14 | g.33800303A>G | CA389413442 | NPAS3 | c.1996A>G (p.Asn666Asp) c.2005A>G (p.Asn669Asp) c.1896A>G c.793+2722A>G c.1900A>G (p.Asn634Asp) c.1957A>G (p.Asn653Asp) c.1906A>G (p.Asn636Asp) c.2011A>G (p.Asn671Asp) c.1918A>G (p.Asn640Asp) c.2017A>G (p.Asn673Asp) c.2047A>G (p.Asn683Asp) c.2038A>G (p.Asn680Asp) c.2008A>G (p.Asn670Asp) c.1951A>G (p.Asn651Asp) c.1897A>G (p.Asn633Asp) c.1690A>G (p.Asn564Asp) c.2104A>G (p.Asn702Asp) c.2098A>G (p.Asn700Asp) c.2095A>G (p.Asn699Asp) c.2155A>G (p.Asn719Asp) c.2146A>G (p.Asn716Asp) c.2065A>G (p.Asn689Asp) c.2014A>G (p.Asn672Asp) | |
| 14 | g.33800303A>T | CA389413443 | NPAS3 | c.1996A>T (p.Asn666Tyr) c.2005A>T (p.Asn669Tyr) c.1896A>T c.793+2722A>T c.1900A>T (p.Asn634Tyr) c.1957A>T (p.Asn653Tyr) c.1906A>T (p.Asn636Tyr) c.2011A>T (p.Asn671Tyr) c.1918A>T (p.Asn640Tyr) c.2017A>T (p.Asn673Tyr) c.2047A>T (p.Asn683Tyr) c.2038A>T (p.Asn680Tyr) c.2008A>T (p.Asn670Tyr) c.1951A>T (p.Asn651Tyr) c.1897A>T (p.Asn633Tyr) c.1690A>T (p.Asn564Tyr) c.2104A>T (p.Asn702Tyr) c.2098A>T (p.Asn700Tyr) c.2095A>T (p.Asn699Tyr) c.2155A>T (p.Asn719Tyr) c.2146A>T (p.Asn716Tyr) c.2065A>T (p.Asn689Tyr) c.2014A>T (p.Asn672Tyr) | dbSNP gnomAD v4 |
| 14 | g.33800304A= | CA2128327228 | NPAS3 | c.1997A= (p.Asn666=) c.2006A= (p.Asn669=) c.1897A= c.793+2723A= c.1901A= (p.Asn634=) c.1958A= (p.Asn653=) c.1907A= (p.Asn636=) c.2012A= (p.Asn671=) c.1919A= (p.Asn640=) c.2018A= (p.Asn673=) c.2048A= (p.Asn683=) c.2039A= (p.Asn680=) c.2009A= (p.Asn670=) c.1952A= (p.Asn651=) c.1898A= (p.Asn633=) c.1691A= (p.Asn564=) c.2105A= (p.Asn702=) c.2099A= (p.Asn700=) c.2096A= (p.Asn699=) c.2156A= (p.Asn719=) c.2147A= (p.Asn716=) c.2066A= (p.Asn689=) c.2015A= (p.Asn672=) | |
| 14 | g.33800304A>C | CA389413446 | NPAS3 | c.1997A>C (p.Asn666Thr) c.2006A>C (p.Asn669Thr) c.1897A>C c.793+2723A>C c.1901A>C (p.Asn634Thr) c.1958A>C (p.Asn653Thr) c.1907A>C (p.Asn636Thr) c.2012A>C (p.Asn671Thr) c.1919A>C (p.Asn640Thr) c.2018A>C (p.Asn673Thr) c.2048A>C (p.Asn683Thr) c.2039A>C (p.Asn680Thr) c.2009A>C (p.Asn670Thr) c.1952A>C (p.Asn651Thr) c.1898A>C (p.Asn633Thr) c.1691A>C (p.Asn564Thr) c.2105A>C (p.Asn702Thr) c.2099A>C (p.Asn700Thr) c.2096A>C (p.Asn699Thr) c.2156A>C (p.Asn719Thr) c.2147A>C (p.Asn716Thr) c.2066A>C (p.Asn689Thr) c.2015A>C (p.Asn672Thr) | |
| 14 | g.33800304A>G | CA389413447 | NPAS3 | c.1997A>G (p.Asn666Ser) c.2006A>G (p.Asn669Ser) c.1897A>G c.793+2723A>G c.1901A>G (p.Asn634Ser) c.1958A>G (p.Asn653Ser) c.1907A>G (p.Asn636Ser) c.2012A>G (p.Asn671Ser) c.1919A>G (p.Asn640Ser) c.2018A>G (p.Asn673Ser) c.2048A>G (p.Asn683Ser) c.2039A>G (p.Asn680Ser) c.2009A>G (p.Asn670Ser) c.1952A>G (p.Asn651Ser) c.1898A>G (p.Asn633Ser) c.1691A>G (p.Asn564Ser) c.2105A>G (p.Asn702Ser) c.2099A>G (p.Asn700Ser) c.2096A>G (p.Asn699Ser) c.2156A>G (p.Asn719Ser) c.2147A>G (p.Asn716Ser) c.2066A>G (p.Asn689Ser) c.2015A>G (p.Asn672Ser) | dbSNP |
| 14 | g.33800304A>T | CA389413449 | NPAS3 | c.1997A>T (p.Asn666Ile) c.2006A>T (p.Asn669Ile) c.1897A>T c.793+2723A>T c.1901A>T (p.Asn634Ile) c.1958A>T (p.Asn653Ile) c.1907A>T (p.Asn636Ile) c.2012A>T (p.Asn671Ile) c.1919A>T (p.Asn640Ile) c.2018A>T (p.Asn673Ile) c.2048A>T (p.Asn683Ile) c.2039A>T (p.Asn680Ile) c.2009A>T (p.Asn670Ile) c.1952A>T (p.Asn651Ile) c.1898A>T (p.Asn633Ile) c.1691A>T (p.Asn564Ile) c.2105A>T (p.Asn702Ile) c.2099A>T (p.Asn700Ile) c.2096A>T (p.Asn699Ile) c.2156A>T (p.Asn719Ile) c.2147A>T (p.Asn716Ile) c.2066A>T (p.Asn689Ile) c.2015A>T (p.Asn672Ile) | |
| 14 | g.33800305C>A | CA389413451 | NPAS3 | c.1998C>A (p.Asn666Lys) c.2007C>A (p.Asn669Lys) c.1898C>A c.793+2724C>A c.1902C>A (p.Asn634Lys) c.1959C>A (p.Asn653Lys) c.1908C>A (p.Asn636Lys) c.2013C>A (p.Asn671Lys) c.1920C>A (p.Asn640Lys) c.2019C>A (p.Asn673Lys) c.2049C>A (p.Asn683Lys) c.2040C>A (p.Asn680Lys) c.2010C>A (p.Asn670Lys) c.1953C>A (p.Asn651Lys) c.1899C>A (p.Asn633Lys) c.1692C>A (p.Asn564Lys) c.2106C>A (p.Asn702Lys) c.2100C>A (p.Asn700Lys) c.2097C>A (p.Asn699Lys) c.2157C>A (p.Asn719Lys) c.2148C>A (p.Asn716Lys) c.2067C>A (p.Asn689Lys) c.2016C>A (p.Asn672Lys) | gnomAD v4 |
| 14 | g.33800305C= | CA2128327230 | NPAS3 | c.1998C= (p.Asn666=) c.2007C= (p.Asn669=) c.1898C= c.793+2724C= c.1902C= (p.Asn634=) c.1959C= (p.Asn653=) c.1908C= (p.Asn636=) c.2013C= (p.Asn671=) c.1920C= (p.Asn640=) c.2019C= (p.Asn673=) c.2049C= (p.Asn683=) c.2040C= (p.Asn680=) c.2010C= (p.Asn670=) c.1953C= (p.Asn651=) c.1899C= (p.Asn633=) c.1692C= (p.Asn564=) c.2106C= (p.Asn702=) c.2100C= (p.Asn700=) c.2097C= (p.Asn699=) c.2157C= (p.Asn719=) c.2148C= (p.Asn716=) c.2067C= (p.Asn689=) c.2016C= (p.Asn672=) | |
| 14 | g.33800305C>G | CA389413453 | NPAS3 | c.1998C>G (p.Asn666Lys) c.2007C>G (p.Asn669Lys) c.1898C>G c.793+2724C>G c.1902C>G (p.Asn634Lys) c.1959C>G (p.Asn653Lys) c.1908C>G (p.Asn636Lys) c.2013C>G (p.Asn671Lys) c.1920C>G (p.Asn640Lys) c.2019C>G (p.Asn673Lys) c.2049C>G (p.Asn683Lys) c.2040C>G (p.Asn680Lys) c.2010C>G (p.Asn670Lys) c.1953C>G (p.Asn651Lys) c.1899C>G (p.Asn633Lys) c.1692C>G (p.Asn564Lys) c.2106C>G (p.Asn702Lys) c.2100C>G (p.Asn700Lys) c.2097C>G (p.Asn699Lys) c.2157C>G (p.Asn719Lys) c.2148C>G (p.Asn716Lys) c.2067C>G (p.Asn689Lys) c.2016C>G (p.Asn672Lys) | |
| 14 | g.33800305C>T | CA486093008 | NPAS3 | c.1998C>T (p.Asn666=) c.2007C>T (p.Asn669=) c.1898C>T c.793+2724C>T c.1902C>T (p.Asn634=) c.1959C>T (p.Asn653=) c.1908C>T (p.Asn636=) c.2013C>T (p.Asn671=) c.1920C>T (p.Asn640=) c.2019C>T (p.Asn673=) c.2049C>T (p.Asn683=) c.2040C>T (p.Asn680=) c.2010C>T (p.Asn670=) c.1953C>T (p.Asn651=) c.1899C>T (p.Asn633=) c.1692C>T (p.Asn564=) c.2106C>T (p.Asn702=) c.2100C>T (p.Asn700=) c.2097C>T (p.Asn699=) c.2157C>T (p.Asn719=) c.2148C>T (p.Asn716=) c.2067C>T (p.Asn689=) c.2016C>T (p.Asn672=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800306T>A | CA389413455 | NPAS3 | c.1999T>A (p.Tyr667Asn) c.2008T>A (p.Tyr670Asn) c.1899T>A c.793+2725T>A c.1903T>A (p.Tyr635Asn) c.1960T>A (p.Tyr654Asn) c.1909T>A (p.Tyr637Asn) c.2014T>A (p.Tyr672Asn) c.1921T>A (p.Tyr641Asn) c.2020T>A (p.Tyr674Asn) c.2050T>A (p.Tyr684Asn) c.2041T>A (p.Tyr681Asn) c.2011T>A (p.Tyr671Asn) c.1954T>A (p.Tyr652Asn) c.1900T>A (p.Tyr634Asn) c.1693T>A (p.Tyr565Asn) c.2107T>A (p.Tyr703Asn) c.2101T>A (p.Tyr701Asn) c.2098T>A (p.Tyr700Asn) c.2158T>A (p.Tyr720Asn) c.2149T>A (p.Tyr717Asn) c.2068T>A (p.Tyr690Asn) c.2017T>A (p.Tyr673Asn) | |
| 14 | g.33800306T>C | CA389413456 | NPAS3 | c.1999T>C (p.Tyr667His) c.2008T>C (p.Tyr670His) c.1899T>C c.793+2725T>C c.1903T>C (p.Tyr635His) c.1960T>C (p.Tyr654His) c.1909T>C (p.Tyr637His) c.2014T>C (p.Tyr672His) c.1921T>C (p.Tyr641His) c.2020T>C (p.Tyr674His) c.2050T>C (p.Tyr684His) c.2041T>C (p.Tyr681His) c.2011T>C (p.Tyr671His) c.1954T>C (p.Tyr652His) c.1900T>C (p.Tyr634His) c.1693T>C (p.Tyr565His) c.2107T>C (p.Tyr703His) c.2101T>C (p.Tyr701His) c.2098T>C (p.Tyr700His) c.2158T>C (p.Tyr720His) c.2149T>C (p.Tyr717His) c.2068T>C (p.Tyr690His) c.2017T>C (p.Tyr673His) | |
| 14 | g.33800306T>G | CA389413458 | NPAS3 | c.1999T>G (p.Tyr667Asp) c.2008T>G (p.Tyr670Asp) c.1899T>G c.793+2725T>G c.1903T>G (p.Tyr635Asp) c.1960T>G (p.Tyr654Asp) c.1909T>G (p.Tyr637Asp) c.2014T>G (p.Tyr672Asp) c.1921T>G (p.Tyr641Asp) c.2020T>G (p.Tyr674Asp) c.2050T>G (p.Tyr684Asp) c.2041T>G (p.Tyr681Asp) c.2011T>G (p.Tyr671Asp) c.1954T>G (p.Tyr652Asp) c.1900T>G (p.Tyr634Asp) c.1693T>G (p.Tyr565Asp) c.2107T>G (p.Tyr703Asp) c.2101T>G (p.Tyr701Asp) c.2098T>G (p.Tyr700Asp) c.2158T>G (p.Tyr720Asp) c.2149T>G (p.Tyr717Asp) c.2068T>G (p.Tyr690Asp) c.2017T>G (p.Tyr673Asp) | |
| 14 | g.33800307A>C | CA389413460 | NPAS3 | c.2000A>C (p.Tyr667Ser) c.2009A>C (p.Tyr670Ser) c.1900A>C c.793+2726A>C c.1904A>C (p.Tyr635Ser) c.1961A>C (p.Tyr654Ser) c.1910A>C (p.Tyr637Ser) c.2015A>C (p.Tyr672Ser) c.1922A>C (p.Tyr641Ser) c.2021A>C (p.Tyr674Ser) c.2051A>C (p.Tyr684Ser) c.2042A>C (p.Tyr681Ser) c.2012A>C (p.Tyr671Ser) c.1955A>C (p.Tyr652Ser) c.1901A>C (p.Tyr634Ser) c.1694A>C (p.Tyr565Ser) c.2108A>C (p.Tyr703Ser) c.2102A>C (p.Tyr701Ser) c.2099A>C (p.Tyr700Ser) c.2159A>C (p.Tyr720Ser) c.2150A>C (p.Tyr717Ser) c.2069A>C (p.Tyr690Ser) c.2018A>C (p.Tyr673Ser) | |
| 14 | g.33800307A>G | CA389413462 | NPAS3 | c.2000A>G (p.Tyr667Cys) c.2009A>G (p.Tyr670Cys) c.1900A>G c.793+2726A>G c.1904A>G (p.Tyr635Cys) c.1961A>G (p.Tyr654Cys) c.1910A>G (p.Tyr637Cys) c.2015A>G (p.Tyr672Cys) c.1922A>G (p.Tyr641Cys) c.2021A>G (p.Tyr674Cys) c.2051A>G (p.Tyr684Cys) c.2042A>G (p.Tyr681Cys) c.2012A>G (p.Tyr671Cys) c.1955A>G (p.Tyr652Cys) c.1901A>G (p.Tyr634Cys) c.1694A>G (p.Tyr565Cys) c.2108A>G (p.Tyr703Cys) c.2102A>G (p.Tyr701Cys) c.2099A>G (p.Tyr700Cys) c.2159A>G (p.Tyr720Cys) c.2150A>G (p.Tyr717Cys) c.2069A>G (p.Tyr690Cys) c.2018A>G (p.Tyr673Cys) | gnomAD v4 |
| 14 | g.33800307A>T | CA389413464 | NPAS3 | c.2000A>T (p.Tyr667Phe) c.2009A>T (p.Tyr670Phe) c.1900A>T c.793+2726A>T c.1904A>T (p.Tyr635Phe) c.1961A>T (p.Tyr654Phe) c.1910A>T (p.Tyr637Phe) c.2015A>T (p.Tyr672Phe) c.1922A>T (p.Tyr641Phe) c.2021A>T (p.Tyr674Phe) c.2051A>T (p.Tyr684Phe) c.2042A>T (p.Tyr681Phe) c.2012A>T (p.Tyr671Phe) c.1955A>T (p.Tyr652Phe) c.1901A>T (p.Tyr634Phe) c.1694A>T (p.Tyr565Phe) c.2108A>T (p.Tyr703Phe) c.2102A>T (p.Tyr701Phe) c.2099A>T (p.Tyr700Phe) c.2159A>T (p.Tyr720Phe) c.2150A>T (p.Tyr717Phe) c.2069A>T (p.Tyr690Phe) c.2018A>T (p.Tyr673Phe) | |
| 14 | g.33800308C>A | CA389413465 | NPAS3 | c.2001C>A (p.Tyr667Ter) c.2010C>A (p.Tyr670Ter) c.1901C>A c.793+2727C>A c.1905C>A (p.Tyr635Ter) c.1962C>A (p.Tyr654Ter) c.1911C>A (p.Tyr637Ter) c.2016C>A (p.Tyr672Ter) c.1923C>A (p.Tyr641Ter) c.2022C>A (p.Tyr674Ter) c.2052C>A (p.Tyr684Ter) c.2043C>A (p.Tyr681Ter) c.2013C>A (p.Tyr671Ter) c.1956C>A (p.Tyr652Ter) c.1902C>A (p.Tyr634Ter) c.1695C>A (p.Tyr565Ter) c.2109C>A (p.Tyr703Ter) c.2103C>A (p.Tyr701Ter) c.2100C>A (p.Tyr700Ter) c.2160C>A (p.Tyr720Ter) c.2151C>A (p.Tyr717Ter) c.2070C>A (p.Tyr690Ter) c.2019C>A (p.Tyr673Ter) | |
| 14 | g.33800308C>G | CA389413467 | NPAS3 | c.2001C>G (p.Tyr667Ter) c.2010C>G (p.Tyr670Ter) c.1901C>G c.793+2727C>G c.1905C>G (p.Tyr635Ter) c.1962C>G (p.Tyr654Ter) c.1911C>G (p.Tyr637Ter) c.2016C>G (p.Tyr672Ter) c.1923C>G (p.Tyr641Ter) c.2022C>G (p.Tyr674Ter) c.2052C>G (p.Tyr684Ter) c.2043C>G (p.Tyr681Ter) c.2013C>G (p.Tyr671Ter) c.1956C>G (p.Tyr652Ter) c.1902C>G (p.Tyr634Ter) c.1695C>G (p.Tyr565Ter) c.2109C>G (p.Tyr703Ter) c.2103C>G (p.Tyr701Ter) c.2100C>G (p.Tyr700Ter) c.2160C>G (p.Tyr720Ter) c.2151C>G (p.Tyr717Ter) c.2070C>G (p.Tyr690Ter) c.2019C>G (p.Tyr673Ter) | |
| 14 | g.33800308C>T | CA486093009 | NPAS3 | c.2001C>T (p.Tyr667=) c.2010C>T (p.Tyr670=) c.1901C>T c.793+2727C>T c.1905C>T (p.Tyr635=) c.1962C>T (p.Tyr654=) c.1911C>T (p.Tyr637=) c.2016C>T (p.Tyr672=) c.1923C>T (p.Tyr641=) c.2022C>T (p.Tyr674=) c.2052C>T (p.Tyr684=) c.2043C>T (p.Tyr681=) c.2013C>T (p.Tyr671=) c.1956C>T (p.Tyr652=) c.1902C>T (p.Tyr634=) c.1695C>T (p.Tyr565=) c.2109C>T (p.Tyr703=) c.2103C>T (p.Tyr701=) c.2100C>T (p.Tyr700=) c.2160C>T (p.Tyr720=) c.2151C>T (p.Tyr717=) c.2070C>T (p.Tyr690=) c.2019C>T (p.Tyr673=) | |
| 14 | g.33800309C>A | CA389413470 | NPAS3 | c.2002C>A (p.Pro668Thr) c.2011C>A (p.Pro671Thr) c.1902C>A c.793+2728C>A c.1906C>A (p.Pro636Thr) c.1963C>A (p.Pro655Thr) c.1912C>A (p.Pro638Thr) c.2017C>A (p.Pro673Thr) c.1924C>A (p.Pro642Thr) c.2023C>A (p.Pro675Thr) c.2053C>A (p.Pro685Thr) c.2044C>A (p.Pro682Thr) c.2014C>A (p.Pro672Thr) c.1957C>A (p.Pro653Thr) c.1903C>A (p.Pro635Thr) c.1696C>A (p.Pro566Thr) c.2110C>A (p.Pro704Thr) c.2104C>A (p.Pro702Thr) c.2101C>A (p.Pro701Thr) c.2161C>A (p.Pro721Thr) c.2152C>A (p.Pro718Thr) c.2071C>A (p.Pro691Thr) c.2020C>A (p.Pro674Thr) | COSMIC COSMIC COSMIC |
| 14 | g.33800309C= | CA2128327235 | NPAS3 | c.2002C= (p.Pro668=) c.2011C= (p.Pro671=) c.1902C= c.793+2728C= c.1906C= (p.Pro636=) c.1963C= (p.Pro655=) c.1912C= (p.Pro638=) c.2017C= (p.Pro673=) c.1924C= (p.Pro642=) c.2023C= (p.Pro675=) c.2053C= (p.Pro685=) c.2044C= (p.Pro682=) c.2014C= (p.Pro672=) c.1957C= (p.Pro653=) c.1903C= (p.Pro635=) c.1696C= (p.Pro566=) c.2110C= (p.Pro704=) c.2104C= (p.Pro702=) c.2101C= (p.Pro701=) c.2161C= (p.Pro721=) c.2152C= (p.Pro718=) c.2071C= (p.Pro691=) c.2020C= (p.Pro674=) | |
| 14 | g.33800309C>G | CA389413471 | NPAS3 | c.2002C>G (p.Pro668Ala) c.2011C>G (p.Pro671Ala) c.1902C>G c.793+2728C>G c.1906C>G (p.Pro636Ala) c.1963C>G (p.Pro655Ala) c.1912C>G (p.Pro638Ala) c.2017C>G (p.Pro673Ala) c.1924C>G (p.Pro642Ala) c.2023C>G (p.Pro675Ala) c.2053C>G (p.Pro685Ala) c.2044C>G (p.Pro682Ala) c.2014C>G (p.Pro672Ala) c.1957C>G (p.Pro653Ala) c.1903C>G (p.Pro635Ala) c.1696C>G (p.Pro566Ala) c.2110C>G (p.Pro704Ala) c.2104C>G (p.Pro702Ala) c.2101C>G (p.Pro701Ala) c.2161C>G (p.Pro721Ala) c.2152C>G (p.Pro718Ala) c.2071C>G (p.Pro691Ala) c.2020C>G (p.Pro674Ala) | |
| 14 | g.33800309C>T | CA258718996 | NPAS3 | c.2002C>T (p.Pro668Ser) c.2011C>T (p.Pro671Ser) c.1902C>T c.793+2728C>T c.1906C>T (p.Pro636Ser) c.1963C>T (p.Pro655Ser) c.1912C>T (p.Pro638Ser) c.2017C>T (p.Pro673Ser) c.1924C>T (p.Pro642Ser) c.2023C>T (p.Pro675Ser) c.2053C>T (p.Pro685Ser) c.2044C>T (p.Pro682Ser) c.2014C>T (p.Pro672Ser) c.1957C>T (p.Pro653Ser) c.1903C>T (p.Pro635Ser) c.1696C>T (p.Pro566Ser) c.2110C>T (p.Pro704Ser) c.2104C>T (p.Pro702Ser) c.2101C>T (p.Pro701Ser) c.2161C>T (p.Pro721Ser) c.2152C>T (p.Pro718Ser) c.2071C>T (p.Pro691Ser) c.2020C>T (p.Pro674Ser) | dbSNP |
| 14 | g.33800310C>A | CA389413478 | NPAS3 | c.2003C>A (p.Pro668Gln) c.2012C>A (p.Pro671Gln) c.1903C>A c.793+2729C>A c.1907C>A (p.Pro636Gln) c.1964C>A (p.Pro655Gln) c.1913C>A (p.Pro638Gln) c.2018C>A (p.Pro673Gln) c.1925C>A (p.Pro642Gln) c.2024C>A (p.Pro675Gln) c.2054C>A (p.Pro685Gln) c.2045C>A (p.Pro682Gln) c.2015C>A (p.Pro672Gln) c.1958C>A (p.Pro653Gln) c.1904C>A (p.Pro635Gln) c.1697C>A (p.Pro566Gln) c.2111C>A (p.Pro704Gln) c.2105C>A (p.Pro702Gln) c.2102C>A (p.Pro701Gln) c.2162C>A (p.Pro721Gln) c.2153C>A (p.Pro718Gln) c.2072C>A (p.Pro691Gln) c.2021C>A (p.Pro674Gln) | gnomAD v4 |
| 14 | g.33800310C= | CA2128327238 | NPAS3 | c.2003C= (p.Pro668=) c.2012C= (p.Pro671=) c.1903C= c.793+2729C= c.1907C= (p.Pro636=) c.1964C= (p.Pro655=) c.1913C= (p.Pro638=) c.2018C= (p.Pro673=) c.1925C= (p.Pro642=) c.2024C= (p.Pro675=) c.2054C= (p.Pro685=) c.2045C= (p.Pro682=) c.2015C= (p.Pro672=) c.1958C= (p.Pro653=) c.1904C= (p.Pro635=) c.1697C= (p.Pro566=) c.2111C= (p.Pro704=) c.2105C= (p.Pro702=) c.2102C= (p.Pro701=) c.2162C= (p.Pro721=) c.2153C= (p.Pro718=) c.2072C= (p.Pro691=) c.2021C= (p.Pro674=) | |
| 14 | g.33800310C>G | CA389413480 | NPAS3 | c.2003C>G (p.Pro668Arg) c.2012C>G (p.Pro671Arg) c.1903C>G c.793+2729C>G c.1907C>G (p.Pro636Arg) c.1964C>G (p.Pro655Arg) c.1913C>G (p.Pro638Arg) c.2018C>G (p.Pro673Arg) c.1925C>G (p.Pro642Arg) c.2024C>G (p.Pro675Arg) c.2054C>G (p.Pro685Arg) c.2045C>G (p.Pro682Arg) c.2015C>G (p.Pro672Arg) c.1958C>G (p.Pro653Arg) c.1904C>G (p.Pro635Arg) c.1697C>G (p.Pro566Arg) c.2111C>G (p.Pro704Arg) c.2105C>G (p.Pro702Arg) c.2102C>G (p.Pro701Arg) c.2162C>G (p.Pro721Arg) c.2153C>G (p.Pro718Arg) c.2072C>G (p.Pro691Arg) c.2021C>G (p.Pro674Arg) | |
| 14 | g.33800310C>T | CA389413476 | NPAS3 | c.2003C>T (p.Pro668Leu) c.2012C>T (p.Pro671Leu) c.1903C>T c.793+2729C>T c.1907C>T (p.Pro636Leu) c.1964C>T (p.Pro655Leu) c.1913C>T (p.Pro638Leu) c.2018C>T (p.Pro673Leu) c.1925C>T (p.Pro642Leu) c.2024C>T (p.Pro675Leu) c.2054C>T (p.Pro685Leu) c.2045C>T (p.Pro682Leu) c.2015C>T (p.Pro672Leu) c.1958C>T (p.Pro653Leu) c.1904C>T (p.Pro635Leu) c.1697C>T (p.Pro566Leu) c.2111C>T (p.Pro704Leu) c.2105C>T (p.Pro702Leu) c.2102C>T (p.Pro701Leu) c.2162C>T (p.Pro721Leu) c.2153C>T (p.Pro718Leu) c.2072C>T (p.Pro691Leu) c.2021C>T (p.Pro674Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.33800311G>A | CA7150921 | NPAS3 | c.2004G>A (p.Pro668=) c.2013G>A (p.Pro671=) c.1904G>A c.793+2730G>A c.1908G>A (p.Pro636=) c.1965G>A (p.Pro655=) c.1914G>A (p.Pro638=) c.2019G>A (p.Pro673=) c.1926G>A (p.Pro642=) c.2025G>A (p.Pro675=) c.2055G>A (p.Pro685=) c.2046G>A (p.Pro682=) c.2016G>A (p.Pro672=) c.1959G>A (p.Pro653=) c.1905G>A (p.Pro635=) c.1698G>A (p.Pro566=) c.2112G>A (p.Pro704=) c.2106G>A (p.Pro702=) c.2103G>A (p.Pro701=) c.2163G>A (p.Pro721=) c.2154G>A (p.Pro718=) c.2073G>A (p.Pro691=) c.2022G>A (p.Pro674=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.33800311G>C | CA486093010 | NPAS3 | c.2004G>C (p.Pro668=) c.2013G>C (p.Pro671=) c.1904G>C c.793+2730G>C c.1908G>C (p.Pro636=) c.1965G>C (p.Pro655=) c.1914G>C (p.Pro638=) c.2019G>C (p.Pro673=) c.1926G>C (p.Pro642=) c.2025G>C (p.Pro675=) c.2055G>C (p.Pro685=) c.2046G>C (p.Pro682=) c.2016G>C (p.Pro672=) c.1959G>C (p.Pro653=) c.1905G>C (p.Pro635=) c.1698G>C (p.Pro566=) c.2112G>C (p.Pro704=) c.2106G>C (p.Pro702=) c.2103G>C (p.Pro701=) c.2163G>C (p.Pro721=) c.2154G>C (p.Pro718=) c.2073G>C (p.Pro691=) c.2022G>C (p.Pro674=) | dbSNP |
| 14 | g.33800311G= | CA2128327241 | NPAS3 | c.2004G= (p.Pro668=) c.2013G= (p.Pro671=) c.1904G= c.793+2730G= c.1908G= (p.Pro636=) c.1965G= (p.Pro655=) c.1914G= (p.Pro638=) c.2019G= (p.Pro673=) c.1926G= (p.Pro642=) c.2025G= (p.Pro675=) c.2055G= (p.Pro685=) c.2046G= (p.Pro682=) c.2016G= (p.Pro672=) c.1959G= (p.Pro653=) c.1905G= (p.Pro635=) c.1698G= (p.Pro566=) c.2112G= (p.Pro704=) c.2106G= (p.Pro702=) c.2103G= (p.Pro701=) c.2163G= (p.Pro721=) c.2154G= (p.Pro718=) c.2073G= (p.Pro691=) c.2022G= (p.Pro674=) | |
| 14 | g.33800311G>T | CA486093011 | NPAS3 | c.2004G>T (p.Pro668=) c.2013G>T (p.Pro671=) c.1904G>T c.793+2730G>T c.1908G>T (p.Pro636=) c.1965G>T (p.Pro655=) c.1914G>T (p.Pro638=) c.2019G>T (p.Pro673=) c.1926G>T (p.Pro642=) c.2025G>T (p.Pro675=) c.2055G>T (p.Pro685=) c.2046G>T (p.Pro682=) c.2016G>T (p.Pro672=) c.1959G>T (p.Pro653=) c.1905G>T (p.Pro635=) c.1698G>T (p.Pro566=) c.2112G>T (p.Pro704=) c.2106G>T (p.Pro702=) c.2103G>T (p.Pro701=) c.2163G>T (p.Pro721=) c.2154G>T (p.Pro718=) c.2073G>T (p.Pro691=) c.2022G>T (p.Pro674=) | gnomAD v4 |
| 14 | g.33800312C>A | CA389413484 | NPAS3 | c.2005C>A (p.Pro669Thr) c.2014C>A (p.Pro672Thr) c.1905C>A c.793+2731C>A c.1909C>A (p.Pro637Thr) c.1966C>A (p.Pro656Thr) c.1915C>A (p.Pro639Thr) c.2020C>A (p.Pro674Thr) c.1927C>A (p.Pro643Thr) c.2026C>A (p.Pro676Thr) c.2056C>A (p.Pro686Thr) c.2047C>A (p.Pro683Thr) c.2017C>A (p.Pro673Thr) c.1960C>A (p.Pro654Thr) c.1906C>A (p.Pro636Thr) c.1699C>A (p.Pro567Thr) c.2113C>A (p.Pro705Thr) c.2107C>A (p.Pro703Thr) c.2104C>A (p.Pro702Thr) c.2164C>A (p.Pro722Thr) c.2155C>A (p.Pro719Thr) c.2074C>A (p.Pro692Thr) c.2023C>A (p.Pro675Thr) | |
| 14 | g.33800312C>G | CA389413485 | NPAS3 | c.2005C>G (p.Pro669Ala) c.2014C>G (p.Pro672Ala) c.1905C>G c.793+2731C>G c.1909C>G (p.Pro637Ala) c.1966C>G (p.Pro656Ala) c.1915C>G (p.Pro639Ala) c.2020C>G (p.Pro674Ala) c.1927C>G (p.Pro643Ala) c.2026C>G (p.Pro676Ala) c.2056C>G (p.Pro686Ala) c.2047C>G (p.Pro683Ala) c.2017C>G (p.Pro673Ala) c.1960C>G (p.Pro654Ala) c.1906C>G (p.Pro636Ala) c.1699C>G (p.Pro567Ala) c.2113C>G (p.Pro705Ala) c.2107C>G (p.Pro703Ala) c.2104C>G (p.Pro702Ala) c.2164C>G (p.Pro722Ala) c.2155C>G (p.Pro719Ala) c.2074C>G (p.Pro692Ala) c.2023C>G (p.Pro675Ala) | |
| 14 | g.33800312C>T | CA389413487 | NPAS3 | c.2005C>T (p.Pro669Ser) c.2014C>T (p.Pro672Ser) c.1905C>T c.793+2731C>T c.1909C>T (p.Pro637Ser) c.1966C>T (p.Pro656Ser) c.1915C>T (p.Pro639Ser) c.2020C>T (p.Pro674Ser) c.1927C>T (p.Pro643Ser) c.2026C>T (p.Pro676Ser) c.2056C>T (p.Pro686Ser) c.2047C>T (p.Pro683Ser) c.2017C>T (p.Pro673Ser) c.1960C>T (p.Pro654Ser) c.1906C>T (p.Pro636Ser) c.1699C>T (p.Pro567Ser) c.2113C>T (p.Pro705Ser) c.2107C>T (p.Pro703Ser) c.2104C>T (p.Pro702Ser) c.2164C>T (p.Pro722Ser) c.2155C>T (p.Pro719Ser) c.2074C>T (p.Pro692Ser) c.2023C>T (p.Pro675Ser) | COSMIC COSMIC COSMIC |
| 14 | g.33800313C>A | CA389413489 | NPAS3 | c.2006C>A (p.Pro669His) c.2015C>A (p.Pro672His) c.1906C>A c.793+2732C>A c.1910C>A (p.Pro637His) c.1967C>A (p.Pro656His) c.1916C>A (p.Pro639His) c.2021C>A (p.Pro674His) c.1928C>A (p.Pro643His) c.2027C>A (p.Pro676His) c.2057C>A (p.Pro686His) c.2048C>A (p.Pro683His) c.2018C>A (p.Pro673His) c.1961C>A (p.Pro654His) c.1907C>A (p.Pro636His) c.1700C>A (p.Pro567His) c.2114C>A (p.Pro705His) c.2108C>A (p.Pro703His) c.2105C>A (p.Pro702His) c.2165C>A (p.Pro722His) c.2156C>A (p.Pro719His) c.2075C>A (p.Pro692His) c.2024C>A (p.Pro675His) | gnomAD v4 |
| 14 | g.33800313C>G | CA389413491 | NPAS3 | c.2006C>G (p.Pro669Arg) c.2015C>G (p.Pro672Arg) c.1906C>G c.793+2732C>G c.1910C>G (p.Pro637Arg) c.1967C>G (p.Pro656Arg) c.1916C>G (p.Pro639Arg) c.2021C>G (p.Pro674Arg) c.1928C>G (p.Pro643Arg) c.2027C>G (p.Pro676Arg) c.2057C>G (p.Pro686Arg) c.2048C>G (p.Pro683Arg) c.2018C>G (p.Pro673Arg) c.1961C>G (p.Pro654Arg) c.1907C>G (p.Pro636Arg) c.1700C>G (p.Pro567Arg) c.2114C>G (p.Pro705Arg) c.2108C>G (p.Pro703Arg) c.2105C>G (p.Pro702Arg) c.2165C>G (p.Pro722Arg) c.2156C>G (p.Pro719Arg) c.2075C>G (p.Pro692Arg) c.2024C>G (p.Pro675Arg) | |
| 14 | g.33800313C>T | CA389413493 | NPAS3 | c.2006C>T (p.Pro669Leu) c.2015C>T (p.Pro672Leu) c.1906C>T c.793+2732C>T c.1910C>T (p.Pro637Leu) c.1967C>T (p.Pro656Leu) c.1916C>T (p.Pro639Leu) c.2021C>T (p.Pro674Leu) c.1928C>T (p.Pro643Leu) c.2027C>T (p.Pro676Leu) c.2057C>T (p.Pro686Leu) c.2048C>T (p.Pro683Leu) c.2018C>T (p.Pro673Leu) c.1961C>T (p.Pro654Leu) c.1907C>T (p.Pro636Leu) c.1700C>T (p.Pro567Leu) c.2114C>T (p.Pro705Leu) c.2108C>T (p.Pro703Leu) c.2105C>T (p.Pro702Leu) c.2165C>T (p.Pro722Leu) c.2156C>T (p.Pro719Leu) c.2075C>T (p.Pro692Leu) c.2024C>T (p.Pro675Leu) | |
| 14 | g.33800314C>A | CA486093012 | NPAS3 | c.2007C>A (p.Pro669=) c.2016C>A (p.Pro672=) c.1907C>A c.793+2733C>A c.1911C>A (p.Pro637=) c.1968C>A (p.Pro656=) c.1917C>A (p.Pro639=) c.2022C>A (p.Pro674=) c.1929C>A (p.Pro643=) c.2028C>A (p.Pro676=) c.2058C>A (p.Pro686=) c.2049C>A (p.Pro683=) c.2019C>A (p.Pro673=) c.1962C>A (p.Pro654=) c.1908C>A (p.Pro636=) c.1701C>A (p.Pro567=) c.2115C>A (p.Pro705=) c.2109C>A (p.Pro703=) c.2106C>A (p.Pro702=) c.2166C>A (p.Pro722=) c.2157C>A (p.Pro719=) c.2076C>A (p.Pro692=) c.2025C>A (p.Pro675=) | |
| 14 | g.33800314C>G | CA486093013 | NPAS3 | c.2007C>G (p.Pro669=) c.2016C>G (p.Pro672=) c.1907C>G c.793+2733C>G c.1911C>G (p.Pro637=) c.1968C>G (p.Pro656=) c.1917C>G (p.Pro639=) c.2022C>G (p.Pro674=) c.1929C>G (p.Pro643=) c.2028C>G (p.Pro676=) c.2058C>G (p.Pro686=) c.2049C>G (p.Pro683=) c.2019C>G (p.Pro673=) c.1962C>G (p.Pro654=) c.1908C>G (p.Pro636=) c.1701C>G (p.Pro567=) c.2115C>G (p.Pro705=) c.2109C>G (p.Pro703=) c.2106C>G (p.Pro702=) c.2166C>G (p.Pro722=) c.2157C>G (p.Pro719=) c.2076C>G (p.Pro692=) c.2025C>G (p.Pro675=) | |
| 14 | g.33800314C>T | CA486093014 | NPAS3 | c.2007C>T (p.Pro669=) c.2016C>T (p.Pro672=) c.1907C>T c.793+2733C>T c.1911C>T (p.Pro637=) c.1968C>T (p.Pro656=) c.1917C>T (p.Pro639=) c.2022C>T (p.Pro674=) c.1929C>T (p.Pro643=) c.2028C>T (p.Pro676=) c.2058C>T (p.Pro686=) c.2049C>T (p.Pro683=) c.2019C>T (p.Pro673=) c.1962C>T (p.Pro654=) c.1908C>T (p.Pro636=) c.1701C>T (p.Pro567=) c.2115C>T (p.Pro705=) c.2109C>T (p.Pro703=) c.2106C>T (p.Pro702=) c.2166C>T (p.Pro722=) c.2157C>T (p.Pro719=) c.2076C>T (p.Pro692=) c.2025C>T (p.Pro675=) | dbSNP |
| 14 | g.33800315A>C | CA389413495 | NPAS3 | c.2008A>C (p.Asn670His) c.2017A>C (p.Asn673His) c.1908A>C c.793+2734A>C c.1912A>C (p.Asn638His) c.1969A>C (p.Asn657His) c.1918A>C (p.Asn640His) c.2023A>C (p.Asn675His) c.1930A>C (p.Asn644His) c.2029A>C (p.Asn677His) c.2059A>C (p.Asn687His) c.2050A>C (p.Asn684His) c.2020A>C (p.Asn674His) c.1963A>C (p.Asn655His) c.1909A>C (p.Asn637His) c.1702A>C (p.Asn568His) c.2116A>C (p.Asn706His) c.2110A>C (p.Asn704His) c.2107A>C (p.Asn703His) c.2167A>C (p.Asn723His) c.2158A>C (p.Asn720His) c.2077A>C (p.Asn693His) c.2026A>C (p.Asn676His) | |
| 14 | g.33800315A>G | CA389413496 | NPAS3 | c.2008A>G (p.Asn670Asp) c.2017A>G (p.Asn673Asp) c.1908A>G c.793+2734A>G c.1912A>G (p.Asn638Asp) c.1969A>G (p.Asn657Asp) c.1918A>G (p.Asn640Asp) c.2023A>G (p.Asn675Asp) c.1930A>G (p.Asn644Asp) c.2029A>G (p.Asn677Asp) c.2059A>G (p.Asn687Asp) c.2050A>G (p.Asn684Asp) c.2020A>G (p.Asn674Asp) c.1963A>G (p.Asn655Asp) c.1909A>G (p.Asn637Asp) c.1702A>G (p.Asn568Asp) c.2116A>G (p.Asn706Asp) c.2110A>G (p.Asn704Asp) c.2107A>G (p.Asn703Asp) c.2167A>G (p.Asn723Asp) c.2158A>G (p.Asn720Asp) c.2077A>G (p.Asn693Asp) c.2026A>G (p.Asn676Asp) | |
| 14 | g.33800315A>T | CA389413497 | NPAS3 | c.2008A>T (p.Asn670Tyr) c.2017A>T (p.Asn673Tyr) c.1908A>T c.793+2734A>T c.1912A>T (p.Asn638Tyr) c.1969A>T (p.Asn657Tyr) c.1918A>T (p.Asn640Tyr) c.2023A>T (p.Asn675Tyr) c.1930A>T (p.Asn644Tyr) c.2029A>T (p.Asn677Tyr) c.2059A>T (p.Asn687Tyr) c.2050A>T (p.Asn684Tyr) c.2020A>T (p.Asn674Tyr) c.1963A>T (p.Asn655Tyr) c.1909A>T (p.Asn637Tyr) c.1702A>T (p.Asn568Tyr) c.2116A>T (p.Asn706Tyr) c.2110A>T (p.Asn704Tyr) c.2107A>T (p.Asn703Tyr) c.2167A>T (p.Asn723Tyr) c.2158A>T (p.Asn720Tyr) c.2077A>T (p.Asn693Tyr) c.2026A>T (p.Asn676Tyr) | |
| 14 | g.33800316A>C | CA389413499 | NPAS3 | c.2009A>C (p.Asn670Thr) c.2018A>C (p.Asn673Thr) c.1909A>C c.793+2735A>C c.1913A>C (p.Asn638Thr) c.1970A>C (p.Asn657Thr) c.1919A>C (p.Asn640Thr) c.2024A>C (p.Asn675Thr) c.1931A>C (p.Asn644Thr) c.2030A>C (p.Asn677Thr) c.2060A>C (p.Asn687Thr) c.2051A>C (p.Asn684Thr) c.2021A>C (p.Asn674Thr) c.1964A>C (p.Asn655Thr) c.1910A>C (p.Asn637Thr) c.1703A>C (p.Asn568Thr) c.2117A>C (p.Asn706Thr) c.2111A>C (p.Asn704Thr) c.2108A>C (p.Asn703Thr) c.2168A>C (p.Asn723Thr) c.2159A>C (p.Asn720Thr) c.2078A>C (p.Asn693Thr) c.2027A>C (p.Asn676Thr) | |
| 14 | g.33800316A>G | CA389413501 | NPAS3 | c.2009A>G (p.Asn670Ser) c.2018A>G (p.Asn673Ser) c.1909A>G c.793+2735A>G c.1913A>G (p.Asn638Ser) c.1970A>G (p.Asn657Ser) c.1919A>G (p.Asn640Ser) c.2024A>G (p.Asn675Ser) c.1931A>G (p.Asn644Ser) c.2030A>G (p.Asn677Ser) c.2060A>G (p.Asn687Ser) c.2051A>G (p.Asn684Ser) c.2021A>G (p.Asn674Ser) c.1964A>G (p.Asn655Ser) c.1910A>G (p.Asn637Ser) c.1703A>G (p.Asn568Ser) c.2117A>G (p.Asn706Ser) c.2111A>G (p.Asn704Ser) c.2108A>G (p.Asn703Ser) c.2168A>G (p.Asn723Ser) c.2159A>G (p.Asn720Ser) c.2078A>G (p.Asn693Ser) c.2027A>G (p.Asn676Ser) | |
| 14 | g.33800316A>T | CA389413503 | NPAS3 | c.2009A>T (p.Asn670Ile) c.2018A>T (p.Asn673Ile) c.1909A>T c.793+2735A>T c.1913A>T (p.Asn638Ile) c.1970A>T (p.Asn657Ile) c.1919A>T (p.Asn640Ile) c.2024A>T (p.Asn675Ile) c.1931A>T (p.Asn644Ile) c.2030A>T (p.Asn677Ile) c.2060A>T (p.Asn687Ile) c.2051A>T (p.Asn684Ile) c.2021A>T (p.Asn674Ile) c.1964A>T (p.Asn655Ile) c.1910A>T (p.Asn637Ile) c.1703A>T (p.Asn568Ile) c.2117A>T (p.Asn706Ile) c.2111A>T (p.Asn704Ile) c.2108A>T (p.Asn703Ile) c.2168A>T (p.Asn723Ile) c.2159A>T (p.Asn720Ile) c.2078A>T (p.Asn693Ile) c.2027A>T (p.Asn676Ile) | |
| 14 | g.33800317C>A | CA389413505 | NPAS3 | c.2010C>A (p.Asn670Lys) c.2019C>A (p.Asn673Lys) c.1910C>A c.793+2736C>A c.1914C>A (p.Asn638Lys) c.1971C>A (p.Asn657Lys) c.1920C>A (p.Asn640Lys) c.2025C>A (p.Asn675Lys) c.1932C>A (p.Asn644Lys) c.2031C>A (p.Asn677Lys) c.2061C>A (p.Asn687Lys) c.2052C>A (p.Asn684Lys) c.2022C>A (p.Asn674Lys) c.1965C>A (p.Asn655Lys) c.1911C>A (p.Asn637Lys) c.1704C>A (p.Asn568Lys) c.2118C>A (p.Asn706Lys) c.2112C>A (p.Asn704Lys) c.2109C>A (p.Asn703Lys) c.2169C>A (p.Asn723Lys) c.2160C>A (p.Asn720Lys) c.2079C>A (p.Asn693Lys) c.2028C>A (p.Asn676Lys) | dbSNP gnomAD v2 |
| 14 | g.33800317C= | CA2128327245 | NPAS3 | c.2010C= (p.Asn670=) c.2019C= (p.Asn673=) c.1910C= c.793+2736C= c.1914C= (p.Asn638=) c.1971C= (p.Asn657=) c.1920C= (p.Asn640=) c.2025C= (p.Asn675=) c.1932C= (p.Asn644=) c.2031C= (p.Asn677=) c.2061C= (p.Asn687=) c.2052C= (p.Asn684=) c.2022C= (p.Asn674=) c.1965C= (p.Asn655=) c.1911C= (p.Asn637=) c.1704C= (p.Asn568=) c.2118C= (p.Asn706=) c.2112C= (p.Asn704=) c.2109C= (p.Asn703=) c.2169C= (p.Asn723=) c.2160C= (p.Asn720=) c.2079C= (p.Asn693=) c.2028C= (p.Asn676=) | |
| 14 | g.33800317C>G | CA389413507 | NPAS3 | c.2010C>G (p.Asn670Lys) c.2019C>G (p.Asn673Lys) c.1910C>G c.793+2736C>G c.1914C>G (p.Asn638Lys) c.1971C>G (p.Asn657Lys) c.1920C>G (p.Asn640Lys) c.2025C>G (p.Asn675Lys) c.1932C>G (p.Asn644Lys) c.2031C>G (p.Asn677Lys) c.2061C>G (p.Asn687Lys) c.2052C>G (p.Asn684Lys) c.2022C>G (p.Asn674Lys) c.1965C>G (p.Asn655Lys) c.1911C>G (p.Asn637Lys) c.1704C>G (p.Asn568Lys) c.2118C>G (p.Asn706Lys) c.2112C>G (p.Asn704Lys) c.2109C>G (p.Asn703Lys) c.2169C>G (p.Asn723Lys) c.2160C>G (p.Asn720Lys) c.2079C>G (p.Asn693Lys) c.2028C>G (p.Asn676Lys) | |
| 14 | g.33800317C>T | CA486093015 | NPAS3 | c.2010C>T (p.Asn670=) c.2019C>T (p.Asn673=) c.1910C>T c.793+2736C>T c.1914C>T (p.Asn638=) c.1971C>T (p.Asn657=) c.1920C>T (p.Asn640=) c.2025C>T (p.Asn675=) c.1932C>T (p.Asn644=) c.2031C>T (p.Asn677=) c.2061C>T (p.Asn687=) c.2052C>T (p.Asn684=) c.2022C>T (p.Asn674=) c.1965C>T (p.Asn655=) c.1911C>T (p.Asn637=) c.1704C>T (p.Asn568=) c.2118C>T (p.Asn706=) c.2112C>T (p.Asn704=) c.2109C>T (p.Asn703=) c.2169C>T (p.Asn723=) c.2160C>T (p.Asn720=) c.2079C>T (p.Asn693=) c.2028C>T (p.Asn676=) | |
| 14 | g.33800318C>A | CA486093016 | NPAS3 | c.2011C>A (p.Arg671=) c.2020C>A (p.Arg674=) c.1911C>A c.793+2737C>A c.1915C>A (p.Arg639=) c.1972C>A (p.Arg658=) c.1921C>A (p.Arg641=) c.2026C>A (p.Arg676=) c.1933C>A (p.Arg645=) c.2032C>A (p.Arg678=) c.2062C>A (p.Arg688=) c.2053C>A (p.Arg685=) c.2023C>A (p.Arg675=) c.1966C>A (p.Arg656=) c.1912C>A (p.Arg638=) c.1705C>A (p.Arg569=) c.2119C>A (p.Arg707=) c.2113C>A (p.Arg705=) c.2110C>A (p.Arg704=) c.2170C>A (p.Arg724=) c.2161C>A (p.Arg721=) c.2080C>A (p.Arg694=) c.2029C>A (p.Arg677=) | gnomAD v4 |
| 14 | g.33800318C= | CA2128327247 | NPAS3 | c.2011C= (p.Arg671=) c.2020C= (p.Arg674=) c.1911C= c.793+2737C= c.1915C= (p.Arg639=) c.1972C= (p.Arg658=) c.1921C= (p.Arg641=) c.2026C= (p.Arg676=) c.1933C= (p.Arg645=) c.2032C= (p.Arg678=) c.2062C= (p.Arg688=) c.2053C= (p.Arg685=) c.2023C= (p.Arg675=) c.1966C= (p.Arg656=) c.1912C= (p.Arg638=) c.1705C= (p.Arg569=) c.2119C= (p.Arg707=) c.2113C= (p.Arg705=) c.2110C= (p.Arg704=) c.2170C= (p.Arg724=) c.2161C= (p.Arg721=) c.2080C= (p.Arg694=) c.2029C= (p.Arg677=) | |
| 14 | g.33800318C>G | CA389413508 | NPAS3 | c.2011C>G (p.Arg671Gly) c.2020C>G (p.Arg674Gly) c.1911C>G c.793+2737C>G c.1915C>G (p.Arg639Gly) c.1972C>G (p.Arg658Gly) c.1921C>G (p.Arg641Gly) c.2026C>G (p.Arg676Gly) c.1933C>G (p.Arg645Gly) c.2032C>G (p.Arg678Gly) c.2062C>G (p.Arg688Gly) c.2053C>G (p.Arg685Gly) c.2023C>G (p.Arg675Gly) c.1966C>G (p.Arg656Gly) c.1912C>G (p.Arg638Gly) c.1705C>G (p.Arg569Gly) c.2119C>G (p.Arg707Gly) c.2113C>G (p.Arg705Gly) c.2110C>G (p.Arg704Gly) c.2170C>G (p.Arg724Gly) c.2161C>G (p.Arg721Gly) c.2080C>G (p.Arg694Gly) c.2029C>G (p.Arg677Gly) | gnomAD v4 |
| 14 | g.33800318C>T | CA389413509 | NPAS3 | c.2011C>T (p.Arg671Trp) c.2020C>T (p.Arg674Trp) c.1911C>T c.793+2737C>T c.1915C>T (p.Arg639Trp) c.1972C>T (p.Arg658Trp) c.1921C>T (p.Arg641Trp) c.2026C>T (p.Arg676Trp) c.1933C>T (p.Arg645Trp) c.2032C>T (p.Arg678Trp) c.2062C>T (p.Arg688Trp) c.2053C>T (p.Arg685Trp) c.2023C>T (p.Arg675Trp) c.1966C>T (p.Arg656Trp) c.1912C>T (p.Arg638Trp) c.1705C>T (p.Arg569Trp) c.2119C>T (p.Arg707Trp) c.2113C>T (p.Arg705Trp) c.2110C>T (p.Arg704Trp) c.2170C>T (p.Arg724Trp) c.2161C>T (p.Arg721Trp) c.2080C>T (p.Arg694Trp) c.2029C>T (p.Arg677Trp) | dbSNP gnomAD v4 |
| 14 | g.33800319G>A | CA7150922 | NPAS3 | c.2012G>A (p.Arg671Gln) c.2021G>A (p.Arg674Gln) c.1912G>A c.793+2738G>A c.1916G>A (p.Arg639Gln) c.1973G>A (p.Arg658Gln) c.1922G>A (p.Arg641Gln) c.2027G>A (p.Arg676Gln) c.1934G>A (p.Arg645Gln) c.2033G>A (p.Arg678Gln) c.2063G>A (p.Arg688Gln) c.2054G>A (p.Arg685Gln) c.2024G>A (p.Arg675Gln) c.1967G>A (p.Arg656Gln) c.1913G>A (p.Arg638Gln) c.1706G>A (p.Arg569Gln) c.2120G>A (p.Arg707Gln) c.2114G>A (p.Arg705Gln) c.2111G>A (p.Arg704Gln) c.2171G>A (p.Arg724Gln) c.2162G>A (p.Arg721Gln) c.2081G>A (p.Arg694Gln) c.2030G>A (p.Arg677Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800319G>C | CA389413512 | NPAS3 | c.2012G>C (p.Arg671Pro) c.2021G>C (p.Arg674Pro) c.1912G>C c.793+2738G>C c.1916G>C (p.Arg639Pro) c.1973G>C (p.Arg658Pro) c.1922G>C (p.Arg641Pro) c.2027G>C (p.Arg676Pro) c.1934G>C (p.Arg645Pro) c.2033G>C (p.Arg678Pro) c.2063G>C (p.Arg688Pro) c.2054G>C (p.Arg685Pro) c.2024G>C (p.Arg675Pro) c.1967G>C (p.Arg656Pro) c.1913G>C (p.Arg638Pro) c.1706G>C (p.Arg569Pro) c.2120G>C (p.Arg707Pro) c.2114G>C (p.Arg705Pro) c.2111G>C (p.Arg704Pro) c.2171G>C (p.Arg724Pro) c.2162G>C (p.Arg721Pro) c.2081G>C (p.Arg694Pro) c.2030G>C (p.Arg677Pro) | |
| 14 | g.33800319G= | CA2128327249 | NPAS3 | c.2012G= (p.Arg671=) c.2021G= (p.Arg674=) c.1912G= c.793+2738G= c.1916G= (p.Arg639=) c.1973G= (p.Arg658=) c.1922G= (p.Arg641=) c.2027G= (p.Arg676=) c.1934G= (p.Arg645=) c.2033G= (p.Arg678=) c.2063G= (p.Arg688=) c.2054G= (p.Arg685=) c.2024G= (p.Arg675=) c.1967G= (p.Arg656=) c.1913G= (p.Arg638=) c.1706G= (p.Arg569=) c.2120G= (p.Arg707=) c.2114G= (p.Arg705=) c.2111G= (p.Arg704=) c.2171G= (p.Arg724=) c.2162G= (p.Arg721=) c.2081G= (p.Arg694=) c.2030G= (p.Arg677=) | |
| 14 | g.33800319G>T | CA389413513 | NPAS3 | c.2012G>T (p.Arg671Leu) c.2021G>T (p.Arg674Leu) c.1912G>T c.793+2738G>T c.1916G>T (p.Arg639Leu) c.1973G>T (p.Arg658Leu) c.1922G>T (p.Arg641Leu) c.2027G>T (p.Arg676Leu) c.1934G>T (p.Arg645Leu) c.2033G>T (p.Arg678Leu) c.2063G>T (p.Arg688Leu) c.2054G>T (p.Arg685Leu) c.2024G>T (p.Arg675Leu) c.1967G>T (p.Arg656Leu) c.1913G>T (p.Arg638Leu) c.1706G>T (p.Arg569Leu) c.2120G>T (p.Arg707Leu) c.2114G>T (p.Arg705Leu) c.2111G>T (p.Arg704Leu) c.2171G>T (p.Arg724Leu) c.2162G>T (p.Arg721Leu) c.2081G>T (p.Arg694Leu) c.2030G>T (p.Arg677Leu) | |
| 14 | g.33800320G>A | CA486093017 | NPAS3 | c.2013G>A (p.Arg671=) c.2022G>A (p.Arg674=) c.1913G>A c.793+2739G>A c.1917G>A (p.Arg639=) c.1974G>A (p.Arg658=) c.1923G>A (p.Arg641=) c.2028G>A (p.Arg676=) c.1935G>A (p.Arg645=) c.2034G>A (p.Arg678=) c.2064G>A (p.Arg688=) c.2055G>A (p.Arg685=) c.2025G>A (p.Arg675=) c.1968G>A (p.Arg656=) c.1914G>A (p.Arg638=) c.1707G>A (p.Arg569=) c.2121G>A (p.Arg707=) c.2115G>A (p.Arg705=) c.2112G>A (p.Arg704=) c.2172G>A (p.Arg724=) c.2163G>A (p.Arg721=) c.2082G>A (p.Arg694=) c.2031G>A (p.Arg677=) | COSMIC COSMIC COSMIC |
| 14 | g.33800320G>C | CA486093018 | NPAS3 | c.2013G>C (p.Arg671=) c.2022G>C (p.Arg674=) c.1913G>C c.793+2739G>C c.1917G>C (p.Arg639=) c.1974G>C (p.Arg658=) c.1923G>C (p.Arg641=) c.2028G>C (p.Arg676=) c.1935G>C (p.Arg645=) c.2034G>C (p.Arg678=) c.2064G>C (p.Arg688=) c.2055G>C (p.Arg685=) c.2025G>C (p.Arg675=) c.1968G>C (p.Arg656=) c.1914G>C (p.Arg638=) c.1707G>C (p.Arg569=) c.2121G>C (p.Arg707=) c.2115G>C (p.Arg705=) c.2112G>C (p.Arg704=) c.2172G>C (p.Arg724=) c.2163G>C (p.Arg721=) c.2082G>C (p.Arg694=) c.2031G>C (p.Arg677=) | |
| 14 | g.33800320G>T | CA486093019 | NPAS3 | c.2013G>T (p.Arg671=) c.2022G>T (p.Arg674=) c.1913G>T c.793+2739G>T c.1917G>T (p.Arg639=) c.1974G>T (p.Arg658=) c.1923G>T (p.Arg641=) c.2028G>T (p.Arg676=) c.1935G>T (p.Arg645=) c.2034G>T (p.Arg678=) c.2064G>T (p.Arg688=) c.2055G>T (p.Arg685=) c.2025G>T (p.Arg675=) c.1968G>T (p.Arg656=) c.1914G>T (p.Arg638=) c.1707G>T (p.Arg569=) c.2121G>T (p.Arg707=) c.2115G>T (p.Arg705=) c.2112G>T (p.Arg704=) c.2172G>T (p.Arg724=) c.2163G>T (p.Arg721=) c.2082G>T (p.Arg694=) c.2031G>T (p.Arg677=) | |
| 14 | g.33800321G>A | CA7150923 | NPAS3 | c.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 |
| 14 | g.33800321G>C | CA389413517 | NPAS3 | c.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 |
| 14 | g.33800321G= | CA2128327255 | NPAS3 | c.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=) | |
| 14 | g.33800321G>T | CA389413518 | NPAS3 | c.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 |
| 14 | g.33800322A>C | CA389413521 | NPAS3 | c.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) | |
| 14 | g.33800322A>G | CA389413523 | NPAS3 | c.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) | |
| 14 | g.33800322A>T | CA389413525 | NPAS3 | c.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) | |
| 14 | g.33800323G>A | CA486093020 | NPAS3 | c.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 |
| 14 | g.33800323G>C | CA389413527 | NPAS3 | c.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 |
| 14 | g.33800323G= | CA2128327258 | NPAS3 | c.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=) | |
| 14 | g.33800323G>T | CA389413529 | NPAS3 | c.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) | |
| 14 | g.33800324A>C | CA389413534 | NPAS3 | c.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 |
| 14 | g.33800324A>G | CA389413533 | NPAS3 | c.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) | |
| 14 | g.33800324A>T | CA389413531 | NPAS3 | c.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) | |
| 14 | g.33800325T>A | CA389413535 | NPAS3 | c.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) | |
| 14 | g.33800325T>C | CA389413537 | NPAS3 | c.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 |
| 14 | g.33800325T>G | CA389413539 | NPAS3 | c.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) | |
| 14 | g.33800325T= | CA2128327261 | NPAS3 | c.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=) | |
| 14 | g.33800326C>A | CA486093021 | NPAS3 | c.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=) | |
| 14 | g.33800326C>G | CA389413540 | NPAS3 | c.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) | |
| 14 | g.33800326C>T | CA486093022 | NPAS3 | c.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=) | |
| 14 | g.33800327T>A | CA389413543 | NPAS3 | c.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) | |
| 14 | g.33800327T>C | CA389413545 | NPAS3 | c.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) | |
| 14 | g.33800327T>G | CA389413547 | NPAS3 | c.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) | |
| 14 | g.33800328C>A | CA389413549 | NPAS3 | c.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) | |
| 14 | g.33800328C>G | CA389413551 | NPAS3 | c.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 |
| 14 | g.33800328C>T | CA389413553 | NPAS3 | c.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) | |
| 14 | g.33800329C>A | CA486093023 | NPAS3 | c.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 |
| 14 | g.33800329C>G | CA486093024 | NPAS3 | c.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=) | |
| 14 | g.33800329C>T | CA486093025 | NPAS3 | c.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=) | |
| 14 | g.33800330A>C | CA486093026 | NPAS3 | c.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=) | |
| 14 | g.33800330A>G | CA389413555 | NPAS3 | c.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 |
| 14 | g.33800330A>T | CA389413559 | NPAS3 | c.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) | |
| 14 | g.33800331G>A | CA389413564 | NPAS3 | c.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) | |
| 14 | g.33800331G>C | CA389413565 | NPAS3 | c.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 |
| 14 | g.33800331G= | CA2128327265 | NPAS3 | c.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=) | |
| 14 | g.33800331G>T | CA389413562 | NPAS3 | c.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) | |
| 14 | g.33800331_33800332delinsAA | CA645582789 | NPAS3 | c.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 |
| 14 | g.33800332G>A | CA486093027 | NPAS3 | c.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 |
| 14 | g.33800332G>C | CA389413569 | NPAS3 | c.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) | |
| 14 | g.33800332G= | CA2128327268 | NPAS3 | c.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=) | |
| 14 | g.33800332G>T | CA389413570 | NPAS3 | c.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) | |
| 14 | g.33800333A>C | CA389413573 | NPAS3 | c.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) | |
| 14 | g.33800333A>G | CA389413575 | NPAS3 | c.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) | |
| 14 | g.33800333A>T | CA389413576 | NPAS3 | c.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) | |
| 14 | g.33800334A>C | CA389413582 | NPAS3 | c.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) | |
| 14 | g.33800334A>G | CA389413579 | NPAS3 | c.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) | |
| 14 | g.33800334A>T | CA389413581 | NPAS3 | c.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) | |
| 14 | g.33800335C>A | CA389413585 | NPAS3 | c.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) | |
| 14 | g.33800335C= | CA2128327272 | NPAS3 | c.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=) | |
| 14 | g.33800335C>G | CA389413587 | NPAS3 | c.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) | |
| 14 | g.33800335C>T | CA7150924 | NPAS3 | c.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 |
| 14 | g.33800336G>A | CA389413589 | NPAS3 | c.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 |
| 14 | g.33800336G>C | CA389413591 | NPAS3 | c.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 |
| 14 | g.33800336G= | CA2128327275 | NPAS3 | c.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=) | |
| 14 | g.33800336G>T | CA389413593 | NPAS3 | c.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) | |
| 14 | g.33800337A>C | CA389413598 | NPAS3 | c.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) | |
| 14 | g.33800337A>G | CA389413599 | NPAS3 | c.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) | |
| 14 | g.33800337A>T | CA389413596 | NPAS3 | c.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 |
| 14 | g.33800338G>A | CA486093028 | NPAS3 | c.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 |
| 14 | g.33800338G>C | CA389413603 | NPAS3 | c.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) | |
| 14 | g.33800338G= | CA2128327278 | NPAS3 | c.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=) | |
| 14 | g.33800338G>T | CA389413602 | NPAS3 | c.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) | |
| 14 | g.33800339T>A | CA389413608 | NPAS3 | c.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) | |
| 14 | g.33800339T>C | CA389413605 | NPAS3 | c.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) | |
| 14 | g.33800339T>G | CA389413607 | NPAS3 | c.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) | |
| 14 | g.33800340C>A | CA389413611 | NPAS3 | c.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 |
| 14 | g.33800340C= | CA2128327281 | NPAS3 | c.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=) | |
| 14 | g.33800340C>G | CA389413613 | NPAS3 | c.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) | |
| 14 | g.33800340C>T | CA7150925 | NPAS3 | c.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 |
| 14 | g.33800341C>A | CA486093031 | NPAS3 | c.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 |
| 14 | g.33800341C>G | CA486093029 | NPAS3 | c.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=) | |
| 14 | g.33800341C>T | CA486093030 | NPAS3 | c.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 |
| 14 | g.33800342C>A | CA389413616 | NPAS3 | c.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) | |
| 14 | g.33800342C>G | CA389413617 | NPAS3 | c.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) | |
| 14 | g.33800342C>T | CA389413619 | NPAS3 | c.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) | |
| 14 | g.33800343C>A | CA389413621 | NPAS3 | c.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) | |
| 14 | g.33800343C>G | CA389413623 | NPAS3 | c.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 |
| 14 | g.33800343C>T | CA389413625 | NPAS3 | c.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 |
| 14 | g.33800344C>A | CA7150926 | NPAS3 | c.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 |
| 14 | g.33800344C= | CA2128327286 | NPAS3 | c.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=) | |
| 14 | g.33800344C>G | CA486093032 | NPAS3 | c.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 |
| 14 | g.33800344C>T | CA486093033 | NPAS3 | c.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 |
| 14 | g.33800345T>A | CA389413632 | NPAS3 | c.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) | |
| 14 | g.33800345T>C | CA258719052 | NPAS3 | c.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 |
| 14 | g.33800345T>G | CA389413630 | NPAS3 | c.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) | |
| 14 | g.33800345T= | CA2128327290 | NPAS3 | c.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=) | |
| 14 | g.33800346A= | CA2128327292 | NPAS3 | c.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=) | |
| 14 | g.33800346A>C | CA389413634 | NPAS3 | c.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) | |
| 14 | g.33800346A>G | CA389413636 | NPAS3 | c.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 |
| 14 | g.33800346A>T | CA389413638 | NPAS3 | c.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) | |
| 14 | g.33800347C>A | CA389413640 | NPAS3 | c.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) | |
| 14 | g.33800347C>G | CA389413642 | NPAS3 | c.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 |
| 14 | g.33800347C>T | CA486093034 | NPAS3 | c.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=) | |
| 14 | g.33800348A>C | CA389413645 | NPAS3 | c.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 |
| 14 | g.33800348A>G | CA389413646 | NPAS3 | c.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) | |
| 14 | g.33800348A>T | CA389413649 | NPAS3 | c.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) | |
| 14 | g.33800349G>A | CA389413651 | NPAS3 | c.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) | |
| 14 | g.33800349G>C | CA389413652 | NPAS3 | c.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) | |
| 14 | g.33800349G>T | CA389413654 | NPAS3 | c.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) | |
| 14 | g.33800350C>A | CA389413658 | NPAS3 | c.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) | |
| 14 | g.33800350C>G | CA389413656 | NPAS3 | c.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) | |
| 14 | g.33800350C>T | CA486093036 | NPAS3 | c.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=) | |
| 14 | g.33800351A= | CA2128327294 | NPAS3 | c.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=) | |
| 14 | g.33800351A>C | CA389413661 | NPAS3 | c.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) | |
| 14 | g.33800351A>G | CA389413662 | NPAS3 | c.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 |
| 14 | g.33800351A>T | CA389413664 | NPAS3 | c.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 |
| 14 | g.33800352T>A | CA389413666 | NPAS3 | c.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) | |
| 14 | g.33800352T>C | CA389413668 | NPAS3 | c.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) | |
| 14 | g.33800352T>G | CA389413670 | NPAS3 | c.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) | |
| 14 | g.33800353G>A | CA389413672 | NPAS3 | c.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 |
| 14 | g.33800353G>C | CA389413674 | NPAS3 | c.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 |
| 14 | g.33800353G= | CA2128327298 | NPAS3 | c.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=) | |
| 14 | g.33800353G>T | CA389413676 | NPAS3 | c.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 |
| 14 | g.33800354A>C | CA389413679 | NPAS3 | c.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 |
| 14 | g.33800354A>G | CA389413681 | NPAS3 | c.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 |
| 14 | g.33800354A>T | CA389413682 | NPAS3 | c.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) | |
| 14 | g.33800355C>A | CA389413686 | NPAS3 | c.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 |
| 14 | g.33800355C>G | CA389413687 | NPAS3 | c.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) | |
| 14 | g.33800355C>T | CA389413684 | NPAS3 | c.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) | |
| 14 | g.33800356C>A | CA486093042 | NPAS3 | c.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=) | |
| 14 | g.33800356C= | CA2128327299 | NPAS3 | c.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=) | |
| 14 | g.33800356C>G | CA486093043 | NPAS3 | c.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 |
| 14 | g.33800356C>T | CA486093044 | NPAS3 | c.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=) | |
| 14 | g.33800357A>C | CA389413689 | NPAS3 | c.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) | |
| 14 | g.33800357A>G | CA389413690 | NPAS3 | c.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) | |
| 14 | g.33800357A>T | CA389413692 | NPAS3 | c.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) | |
| 14 | g.33800358A>C | CA389413694 | NPAS3 | c.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 |
| 14 | g.33800358A>G | CA389413695 | NPAS3 | c.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) | |
| 14 | g.33800358A>T | CA389413697 | NPAS3 | c.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) | |
| 14 | g.33800359G>A | CA486093045 | NPAS3 | c.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=) | |
| 14 | g.33800359G>C | CA389413699 | NPAS3 | c.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) | |
| 14 | g.33800359G>T | CA389413701 | NPAS3 | c.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) |