Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.33800482C>ACA486093227NPAS3c.2175C>A (p.Ala725=)
c.2184C>A (p.Ala728=)
c.2075C>A
c.793+2901C>A
c.2079C>A (p.Ala693=)
c.2136C>A (p.Ala712=)
c.2085C>A (p.Ala695=)
c.2190C>A (p.Ala730=)
c.2097C>A (p.Ala699=)
c.2196C>A (p.Ala732=)
c.2226C>A (p.Ala742=)
c.2217C>A (p.Ala739=)
c.2187C>A (p.Ala729=)
c.2130C>A (p.Ala710=)
c.2076C>A (p.Ala692=)
c.1869C>A (p.Ala623=)
c.2283C>A (p.Ala761=)
c.2277C>A (p.Ala759=)
c.2274C>A (p.Ala758=)
c.2334C>A (p.Ala778=)
c.2325C>A (p.Ala775=)
c.2244C>A (p.Ala748=)
c.2193C>A (p.Ala731=)
 gnomAD v4
14g.33800482C=CA2128327605NPAS3c.2175C= (p.Ala725=)
c.2184C= (p.Ala728=)
c.2075C=
c.793+2901C=
c.2079C= (p.Ala693=)
c.2136C= (p.Ala712=)
c.2085C= (p.Ala695=)
c.2190C= (p.Ala730=)
c.2097C= (p.Ala699=)
c.2196C= (p.Ala732=)
c.2226C= (p.Ala742=)
c.2217C= (p.Ala739=)
c.2187C= (p.Ala729=)
c.2130C= (p.Ala710=)
c.2076C= (p.Ala692=)
c.1869C= (p.Ala623=)
c.2283C= (p.Ala761=)
c.2277C= (p.Ala759=)
c.2274C= (p.Ala758=)
c.2334C= (p.Ala778=)
c.2325C= (p.Ala775=)
c.2244C= (p.Ala748=)
c.2193C= (p.Ala731=)
14g.33800482C>GCA486093229NPAS3c.2175C>G (p.Ala725=)
c.2184C>G (p.Ala728=)
c.2075C>G
c.793+2901C>G
c.2079C>G (p.Ala693=)
c.2136C>G (p.Ala712=)
c.2085C>G (p.Ala695=)
c.2190C>G (p.Ala730=)
c.2097C>G (p.Ala699=)
c.2196C>G (p.Ala732=)
c.2226C>G (p.Ala742=)
c.2217C>G (p.Ala739=)
c.2187C>G (p.Ala729=)
c.2130C>G (p.Ala710=)
c.2076C>G (p.Ala692=)
c.1869C>G (p.Ala623=)
c.2283C>G (p.Ala761=)
c.2277C>G (p.Ala759=)
c.2274C>G (p.Ala758=)
c.2334C>G (p.Ala778=)
c.2325C>G (p.Ala775=)
c.2244C>G (p.Ala748=)
c.2193C>G (p.Ala731=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800482C>TCA486093230NPAS3c.2175C>T (p.Ala725=)
c.2184C>T (p.Ala728=)
c.2075C>T
c.793+2901C>T
c.2079C>T (p.Ala693=)
c.2136C>T (p.Ala712=)
c.2085C>T (p.Ala695=)
c.2190C>T (p.Ala730=)
c.2097C>T (p.Ala699=)
c.2196C>T (p.Ala732=)
c.2226C>T (p.Ala742=)
c.2217C>T (p.Ala739=)
c.2187C>T (p.Ala729=)
c.2130C>T (p.Ala710=)
c.2076C>T (p.Ala692=)
c.1869C>T (p.Ala623=)
c.2283C>T (p.Ala761=)
c.2277C>T (p.Ala759=)
c.2274C>T (p.Ala758=)
c.2334C>T (p.Ala778=)
c.2325C>T (p.Ala775=)
c.2244C>T (p.Ala748=)
c.2193C>T (p.Ala731=)
 gnomAD v4
14g.33800483_33800484delCA2624512037NPAS3c.2176_2177del (p.Ala726ProfsTer?)
c.2185_2186del (p.Ala729ProfsTer?)
c.2076_2077del
c.793+2902_793+2903del
c.2080_2081del (p.Ala694ProfsTer?)
c.2137_2138del (p.Ala713ProfsTer?)
c.2086_2087del (p.Ala696ProfsTer?)
c.2191_2192del (p.Ala731ProfsTer?)
c.2098_2099del (p.Ala700ProfsTer?)
c.2197_2198del (p.Ala733ProfsTer?)
c.2227_2228del (p.Ala743ProfsTer?)
c.2218_2219del (p.Ala740ProfsTer?)
c.2188_2189del (p.Ala730ProfsTer?)
c.2131_2132del (p.Ala711ProfsTer?)
c.2077_2078del (p.Ala693ProfsTer?)
c.1870_1871del (p.Ala624ProfsTer?)
c.2284_2285del (p.Ala762ProfsTer?)
c.2278_2279del (p.Ala760ProfsTer?)
c.2275_2276del (p.Ala759ProfsTer?)
c.2335_2336del (p.Ala779ProfsTer?)
c.2326_2327del (p.Ala776ProfsTer?)
c.2245_2246del (p.Ala749ProfsTer?)
c.2194_2195del (p.Ala732ProfsTer?)
 gnomAD v4
14g.33800483G>ACA389414137NPAS3c.2176G>A (p.Ala726Thr)
c.2185G>A (p.Ala729Thr)
c.2076G>A
c.793+2902G>A
c.2080G>A (p.Ala694Thr)
c.2137G>A (p.Ala713Thr)
c.2086G>A (p.Ala696Thr)
c.2191G>A (p.Ala731Thr)
c.2098G>A (p.Ala700Thr)
c.2197G>A (p.Ala733Thr)
c.2227G>A (p.Ala743Thr)
c.2218G>A (p.Ala740Thr)
c.2188G>A (p.Ala730Thr)
c.2131G>A (p.Ala711Thr)
c.2077G>A (p.Ala693Thr)
c.1870G>A (p.Ala624Thr)
c.2284G>A (p.Ala762Thr)
c.2278G>A (p.Ala760Thr)
c.2275G>A (p.Ala759Thr)
c.2335G>A (p.Ala779Thr)
c.2326G>A (p.Ala776Thr)
c.2245G>A (p.Ala749Thr)
c.2194G>A (p.Ala732Thr)
 dbSNP gnomAD v4
14g.33800483G>CCA389414138NPAS3c.2176G>C (p.Ala726Pro)
c.2185G>C (p.Ala729Pro)
c.2076G>C
c.793+2902G>C
c.2080G>C (p.Ala694Pro)
c.2137G>C (p.Ala713Pro)
c.2086G>C (p.Ala696Pro)
c.2191G>C (p.Ala731Pro)
c.2098G>C (p.Ala700Pro)
c.2197G>C (p.Ala733Pro)
c.2227G>C (p.Ala743Pro)
c.2218G>C (p.Ala740Pro)
c.2188G>C (p.Ala730Pro)
c.2131G>C (p.Ala711Pro)
c.2077G>C (p.Ala693Pro)
c.1870G>C (p.Ala624Pro)
c.2284G>C (p.Ala762Pro)
c.2278G>C (p.Ala760Pro)
c.2275G>C (p.Ala759Pro)
c.2335G>C (p.Ala779Pro)
c.2326G>C (p.Ala776Pro)
c.2245G>C (p.Ala749Pro)
c.2194G>C (p.Ala732Pro)
14g.33800483G=CA2128327607NPAS3c.2176G= (p.Ala726=)
c.2185G= (p.Ala729=)
c.2076G=
c.793+2902G=
c.2080G= (p.Ala694=)
c.2137G= (p.Ala713=)
c.2086G= (p.Ala696=)
c.2191G= (p.Ala731=)
c.2098G= (p.Ala700=)
c.2197G= (p.Ala733=)
c.2227G= (p.Ala743=)
c.2218G= (p.Ala740=)
c.2188G= (p.Ala730=)
c.2131G= (p.Ala711=)
c.2077G= (p.Ala693=)
c.1870G= (p.Ala624=)
c.2284G= (p.Ala762=)
c.2278G= (p.Ala760=)
c.2275G= (p.Ala759=)
c.2335G= (p.Ala779=)
c.2326G= (p.Ala776=)
c.2245G= (p.Ala749=)
c.2194G= (p.Ala732=)
14g.33800483G>TCA389414139NPAS3c.2176G>T (p.Ala726Ser)
c.2185G>T (p.Ala729Ser)
c.2076G>T
c.793+2902G>T
c.2080G>T (p.Ala694Ser)
c.2137G>T (p.Ala713Ser)
c.2086G>T (p.Ala696Ser)
c.2191G>T (p.Ala731Ser)
c.2098G>T (p.Ala700Ser)
c.2197G>T (p.Ala733Ser)
c.2227G>T (p.Ala743Ser)
c.2218G>T (p.Ala740Ser)
c.2188G>T (p.Ala730Ser)
c.2131G>T (p.Ala711Ser)
c.2077G>T (p.Ala693Ser)
c.1870G>T (p.Ala624Ser)
c.2284G>T (p.Ala762Ser)
c.2278G>T (p.Ala760Ser)
c.2275G>T (p.Ala759Ser)
c.2335G>T (p.Ala779Ser)
c.2326G>T (p.Ala776Ser)
c.2245G>T (p.Ala749Ser)
c.2194G>T (p.Ala732Ser)
 dbSNP gnomAD v3 gnomAD v4
14g.33800484C>ACA389414140NPAS3c.2177C>A (p.Ala726Asp)
c.2186C>A (p.Ala729Asp)
c.2077C>A
c.793+2903C>A
c.2081C>A (p.Ala694Asp)
c.2138C>A (p.Ala713Asp)
c.2087C>A (p.Ala696Asp)
c.2192C>A (p.Ala731Asp)
c.2099C>A (p.Ala700Asp)
c.2198C>A (p.Ala733Asp)
c.2228C>A (p.Ala743Asp)
c.2219C>A (p.Ala740Asp)
c.2189C>A (p.Ala730Asp)
c.2132C>A (p.Ala711Asp)
c.2078C>A (p.Ala693Asp)
c.1871C>A (p.Ala624Asp)
c.2285C>A (p.Ala762Asp)
c.2279C>A (p.Ala760Asp)
c.2276C>A (p.Ala759Asp)
c.2336C>A (p.Ala779Asp)
c.2327C>A (p.Ala776Asp)
c.2246C>A (p.Ala749Asp)
c.2195C>A (p.Ala732Asp)
 dbSNP gnomAD v3 gnomAD v4
14g.33800484C=CA2128327611NPAS3c.2177C= (p.Ala726=)
c.2186C= (p.Ala729=)
c.2077C=
c.793+2903C=
c.2081C= (p.Ala694=)
c.2138C= (p.Ala713=)
c.2087C= (p.Ala696=)
c.2192C= (p.Ala731=)
c.2099C= (p.Ala700=)
c.2198C= (p.Ala733=)
c.2228C= (p.Ala743=)
c.2219C= (p.Ala740=)
c.2189C= (p.Ala730=)
c.2132C= (p.Ala711=)
c.2078C= (p.Ala693=)
c.1871C= (p.Ala624=)
c.2285C= (p.Ala762=)
c.2279C= (p.Ala760=)
c.2276C= (p.Ala759=)
c.2336C= (p.Ala779=)
c.2327C= (p.Ala776=)
c.2246C= (p.Ala749=)
c.2195C= (p.Ala732=)
14g.33800484C>GCA389414142NPAS3c.2177C>G (p.Ala726Gly)
c.2186C>G (p.Ala729Gly)
c.2077C>G
c.793+2903C>G
c.2081C>G (p.Ala694Gly)
c.2138C>G (p.Ala713Gly)
c.2087C>G (p.Ala696Gly)
c.2192C>G (p.Ala731Gly)
c.2099C>G (p.Ala700Gly)
c.2198C>G (p.Ala733Gly)
c.2228C>G (p.Ala743Gly)
c.2219C>G (p.Ala740Gly)
c.2189C>G (p.Ala730Gly)
c.2132C>G (p.Ala711Gly)
c.2078C>G (p.Ala693Gly)
c.1871C>G (p.Ala624Gly)
c.2285C>G (p.Ala762Gly)
c.2279C>G (p.Ala760Gly)
c.2276C>G (p.Ala759Gly)
c.2336C>G (p.Ala779Gly)
c.2327C>G (p.Ala776Gly)
c.2246C>G (p.Ala749Gly)
c.2195C>G (p.Ala732Gly)
14g.33800484C>TCA389414141NPAS3c.2177C>T (p.Ala726Val)
c.2186C>T (p.Ala729Val)
c.2077C>T
c.793+2903C>T
c.2081C>T (p.Ala694Val)
c.2138C>T (p.Ala713Val)
c.2087C>T (p.Ala696Val)
c.2192C>T (p.Ala731Val)
c.2099C>T (p.Ala700Val)
c.2198C>T (p.Ala733Val)
c.2228C>T (p.Ala743Val)
c.2219C>T (p.Ala740Val)
c.2189C>T (p.Ala730Val)
c.2132C>T (p.Ala711Val)
c.2078C>T (p.Ala693Val)
c.1871C>T (p.Ala624Val)
c.2285C>T (p.Ala762Val)
c.2279C>T (p.Ala760Val)
c.2276C>T (p.Ala759Val)
c.2336C>T (p.Ala779Val)
c.2327C>T (p.Ala776Val)
c.2246C>T (p.Ala749Val)
c.2195C>T (p.Ala732Val)
 gnomAD v4
14g.33800486delCA2624512038NPAS3c.2179del (p.Arg727AlafsTer?)
c.2188del (p.Arg730AlafsTer?)
c.2079del
c.793+2905del
c.2083del (p.Arg695AlafsTer?)
c.2140del (p.Arg714AlafsTer?)
c.2089del (p.Arg697AlafsTer?)
c.2194del (p.Arg732AlafsTer?)
c.2101del (p.Arg701AlafsTer?)
c.2200del (p.Arg734AlafsTer?)
c.2230del (p.Arg744AlafsTer?)
c.2221del (p.Arg741AlafsTer?)
c.2191del (p.Arg731AlafsTer?)
c.2134del (p.Arg712AlafsTer?)
c.2080del (p.Arg694AlafsTer?)
c.1873del (p.Arg625AlafsTer?)
c.2287del (p.Arg763AlafsTer?)
c.2281del (p.Arg761AlafsTer?)
c.2278del (p.Arg760AlafsTer?)
c.2338del (p.Arg780AlafsTer?)
c.2329del (p.Arg777AlafsTer?)
c.2248del (p.Arg750AlafsTer?)
c.2197del (p.Arg733AlafsTer?)
 gnomAD v4
14g.33800484_33800485insAGCA2553598910NPAS3c.2177_2178insAG (p.Arg727AlafsTer?)
c.2186_2187insAG (p.Arg730AlafsTer?)
c.2077_2078insAG
c.793+2903_793+2904insAG
c.2081_2082insAG (p.Arg695AlafsTer?)
c.2138_2139insAG (p.Arg714AlafsTer?)
c.2087_2088insAG (p.Arg697AlafsTer?)
c.2192_2193insAG (p.Arg732AlafsTer?)
c.2099_2100insAG (p.Arg701AlafsTer?)
c.2198_2199insAG (p.Arg734AlafsTer?)
c.2228_2229insAG (p.Arg744AlafsTer?)
c.2219_2220insAG (p.Arg741AlafsTer?)
c.2189_2190insAG (p.Arg731AlafsTer?)
c.2132_2133insAG (p.Arg712AlafsTer?)
c.2078_2079insAG (p.Arg694AlafsTer?)
c.1871_1872insAG (p.Arg625AlafsTer?)
c.2285_2286insAG (p.Arg763AlafsTer?)
c.2279_2280insAG (p.Arg761AlafsTer?)
c.2276_2277insAG (p.Arg760AlafsTer?)
c.2336_2337insAG (p.Arg780AlafsTer?)
c.2327_2328insAG (p.Arg777AlafsTer?)
c.2246_2247insAG (p.Arg750AlafsTer?)
c.2195_2196insAG (p.Arg733AlafsTer?)
14g.33800485C>ACA486093232NPAS3c.2178C>A (p.Ala726=)
c.2187C>A (p.Ala729=)
c.2078C>A
c.793+2904C>A
c.2082C>A (p.Ala694=)
c.2139C>A (p.Ala713=)
c.2088C>A (p.Ala696=)
c.2193C>A (p.Ala731=)
c.2100C>A (p.Ala700=)
c.2199C>A (p.Ala733=)
c.2229C>A (p.Ala743=)
c.2220C>A (p.Ala740=)
c.2190C>A (p.Ala730=)
c.2133C>A (p.Ala711=)
c.2079C>A (p.Ala693=)
c.1872C>A (p.Ala624=)
c.2286C>A (p.Ala762=)
c.2280C>A (p.Ala760=)
c.2277C>A (p.Ala759=)
c.2337C>A (p.Ala779=)
c.2328C>A (p.Ala776=)
c.2247C>A (p.Ala749=)
c.2196C>A (p.Ala732=)
 gnomAD v4
14g.33800485C>GCA486093233NPAS3c.2178C>G (p.Ala726=)
c.2187C>G (p.Ala729=)
c.2078C>G
c.793+2904C>G
c.2082C>G (p.Ala694=)
c.2139C>G (p.Ala713=)
c.2088C>G (p.Ala696=)
c.2193C>G (p.Ala731=)
c.2100C>G (p.Ala700=)
c.2199C>G (p.Ala733=)
c.2229C>G (p.Ala743=)
c.2220C>G (p.Ala740=)
c.2190C>G (p.Ala730=)
c.2133C>G (p.Ala711=)
c.2079C>G (p.Ala693=)
c.1872C>G (p.Ala624=)
c.2286C>G (p.Ala762=)
c.2280C>G (p.Ala760=)
c.2277C>G (p.Ala759=)
c.2337C>G (p.Ala779=)
c.2328C>G (p.Ala776=)
c.2247C>G (p.Ala749=)
c.2196C>G (p.Ala732=)
 gnomAD v4
14g.33800485C>TCA486093234NPAS3c.2178C>T (p.Ala726=)
c.2187C>T (p.Ala729=)
c.2078C>T
c.793+2904C>T
c.2082C>T (p.Ala694=)
c.2139C>T (p.Ala713=)
c.2088C>T (p.Ala696=)
c.2193C>T (p.Ala731=)
c.2100C>T (p.Ala700=)
c.2199C>T (p.Ala733=)
c.2229C>T (p.Ala743=)
c.2220C>T (p.Ala740=)
c.2190C>T (p.Ala730=)
c.2133C>T (p.Ala711=)
c.2079C>T (p.Ala693=)
c.1872C>T (p.Ala624=)
c.2286C>T (p.Ala762=)
c.2280C>T (p.Ala760=)
c.2277C>T (p.Ala759=)
c.2337C>T (p.Ala779=)
c.2328C>T (p.Ala776=)
c.2247C>T (p.Ala749=)
c.2196C>T (p.Ala732=)
 gnomAD v4
14g.33800486C>ACA389414143NPAS3c.2179C>A (p.Arg727Ser)
c.2188C>A (p.Arg730Ser)
c.2079C>A
c.793+2905C>A
c.2083C>A (p.Arg695Ser)
c.2140C>A (p.Arg714Ser)
c.2089C>A (p.Arg697Ser)
c.2194C>A (p.Arg732Ser)
c.2101C>A (p.Arg701Ser)
c.2200C>A (p.Arg734Ser)
c.2230C>A (p.Arg744Ser)
c.2221C>A (p.Arg741Ser)
c.2191C>A (p.Arg731Ser)
c.2134C>A (p.Arg712Ser)
c.2080C>A (p.Arg694Ser)
c.1873C>A (p.Arg625Ser)
c.2287C>A (p.Arg763Ser)
c.2281C>A (p.Arg761Ser)
c.2278C>A (p.Arg760Ser)
c.2338C>A (p.Arg780Ser)
c.2329C>A (p.Arg777Ser)
c.2248C>A (p.Arg750Ser)
c.2197C>A (p.Arg733Ser)
 gnomAD v4
14g.33800486C>GCA389414144NPAS3c.2179C>G (p.Arg727Gly)
c.2188C>G (p.Arg730Gly)
c.2079C>G
c.793+2905C>G
c.2083C>G (p.Arg695Gly)
c.2140C>G (p.Arg714Gly)
c.2089C>G (p.Arg697Gly)
c.2194C>G (p.Arg732Gly)
c.2101C>G (p.Arg701Gly)
c.2200C>G (p.Arg734Gly)
c.2230C>G (p.Arg744Gly)
c.2221C>G (p.Arg741Gly)
c.2191C>G (p.Arg731Gly)
c.2134C>G (p.Arg712Gly)
c.2080C>G (p.Arg694Gly)
c.1873C>G (p.Arg625Gly)
c.2287C>G (p.Arg763Gly)
c.2281C>G (p.Arg761Gly)
c.2278C>G (p.Arg760Gly)
c.2338C>G (p.Arg780Gly)
c.2329C>G (p.Arg777Gly)
c.2248C>G (p.Arg750Gly)
c.2197C>G (p.Arg733Gly)
14g.33800486C>TCA389414145NPAS3c.2179C>T (p.Arg727Cys)
c.2188C>T (p.Arg730Cys)
c.2079C>T
c.793+2905C>T
c.2083C>T (p.Arg695Cys)
c.2140C>T (p.Arg714Cys)
c.2089C>T (p.Arg697Cys)
c.2194C>T (p.Arg732Cys)
c.2101C>T (p.Arg701Cys)
c.2200C>T (p.Arg734Cys)
c.2230C>T (p.Arg744Cys)
c.2221C>T (p.Arg741Cys)
c.2191C>T (p.Arg731Cys)
c.2134C>T (p.Arg712Cys)
c.2080C>T (p.Arg694Cys)
c.1873C>T (p.Arg625Cys)
c.2287C>T (p.Arg763Cys)
c.2281C>T (p.Arg761Cys)
c.2278C>T (p.Arg760Cys)
c.2338C>T (p.Arg780Cys)
c.2329C>T (p.Arg777Cys)
c.2248C>T (p.Arg750Cys)
c.2197C>T (p.Arg733Cys)
 gnomAD v4
14g.33800486_33800487insCGCGCA2562813026NPAS3c.2179_2180insCGCG (p.Arg727ProfsTer?)
c.2188_2189insCGCG (p.Arg730ProfsTer?)
c.2079_2080insCGCG
c.793+2905_793+2906insCGCG
c.2083_2084insCGCG (p.Arg695ProfsTer?)
c.2140_2141insCGCG (p.Arg714ProfsTer?)
c.2089_2090insCGCG (p.Arg697ProfsTer?)
c.2194_2195insCGCG (p.Arg732ProfsTer?)
c.2101_2102insCGCG (p.Arg701ProfsTer?)
c.2200_2201insCGCG (p.Arg734ProfsTer?)
c.2230_2231insCGCG (p.Arg744ProfsTer?)
c.2221_2222insCGCG (p.Arg741ProfsTer?)
c.2191_2192insCGCG (p.Arg731ProfsTer?)
c.2134_2135insCGCG (p.Arg712ProfsTer?)
c.2080_2081insCGCG (p.Arg694ProfsTer?)
c.1873_1874insCGCG (p.Arg625ProfsTer?)
c.2287_2288insCGCG (p.Arg763ProfsTer?)
c.2281_2282insCGCG (p.Arg761ProfsTer?)
c.2278_2279insCGCG (p.Arg760ProfsTer?)
c.2338_2339insCGCG (p.Arg780ProfsTer?)
c.2329_2330insCGCG (p.Arg777ProfsTer?)
c.2248_2249insCGCG (p.Arg750ProfsTer?)
c.2197_2198insCGCG (p.Arg733ProfsTer?)
14g.33800487delCA2624512039NPAS3c.2180del (p.Arg727ProfsTer?)
c.2189del (p.Arg730ProfsTer?)
c.2080del
c.793+2906del
c.2084del (p.Arg695ProfsTer?)
c.2141del (p.Arg714ProfsTer?)
c.2090del (p.Arg697ProfsTer?)
c.2195del (p.Arg732ProfsTer?)
c.2102del (p.Arg701ProfsTer?)
c.2201del (p.Arg734ProfsTer?)
c.2231del (p.Arg744ProfsTer?)
c.2222del (p.Arg741ProfsTer?)
c.2192del (p.Arg731ProfsTer?)
c.2135del (p.Arg712ProfsTer?)
c.2081del (p.Arg694ProfsTer?)
c.1874del (p.Arg625ProfsTer?)
c.2288del (p.Arg763ProfsTer?)
c.2282del (p.Arg761ProfsTer?)
c.2279del (p.Arg760ProfsTer?)
c.2339del (p.Arg780ProfsTer?)
c.2330del (p.Arg777ProfsTer?)
c.2249del (p.Arg750ProfsTer?)
c.2198del (p.Arg733ProfsTer?)
 gnomAD v4
14g.33800487G>ACA389414146NPAS3c.2180G>A (p.Arg727His)
c.2189G>A (p.Arg730His)
c.2080G>A
c.793+2906G>A
c.2084G>A (p.Arg695His)
c.2141G>A (p.Arg714His)
c.2090G>A (p.Arg697His)
c.2195G>A (p.Arg732His)
c.2102G>A (p.Arg701His)
c.2201G>A (p.Arg734His)
c.2231G>A (p.Arg744His)
c.2222G>A (p.Arg741His)
c.2192G>A (p.Arg731His)
c.2135G>A (p.Arg712His)
c.2081G>A (p.Arg694His)
c.1874G>A (p.Arg625His)
c.2288G>A (p.Arg763His)
c.2282G>A (p.Arg761His)
c.2279G>A (p.Arg760His)
c.2339G>A (p.Arg780His)
c.2330G>A (p.Arg777His)
c.2249G>A (p.Arg750His)
c.2198G>A (p.Arg733His)
 gnomAD v4
14g.33800487G>CCA389414147NPAS3c.2180G>C (p.Arg727Pro)
c.2189G>C (p.Arg730Pro)
c.2080G>C
c.793+2906G>C
c.2084G>C (p.Arg695Pro)
c.2141G>C (p.Arg714Pro)
c.2090G>C (p.Arg697Pro)
c.2195G>C (p.Arg732Pro)
c.2102G>C (p.Arg701Pro)
c.2201G>C (p.Arg734Pro)
c.2231G>C (p.Arg744Pro)
c.2222G>C (p.Arg741Pro)
c.2192G>C (p.Arg731Pro)
c.2135G>C (p.Arg712Pro)
c.2081G>C (p.Arg694Pro)
c.1874G>C (p.Arg625Pro)
c.2288G>C (p.Arg763Pro)
c.2282G>C (p.Arg761Pro)
c.2279G>C (p.Arg760Pro)
c.2339G>C (p.Arg780Pro)
c.2330G>C (p.Arg777Pro)
c.2249G>C (p.Arg750Pro)
c.2198G>C (p.Arg733Pro)
 dbSNP gnomAD v2 gnomAD v4
14g.33800487G=CA2128327614NPAS3c.2180G= (p.Arg727=)
c.2189G= (p.Arg730=)
c.2080G=
c.793+2906G=
c.2084G= (p.Arg695=)
c.2141G= (p.Arg714=)
c.2090G= (p.Arg697=)
c.2195G= (p.Arg732=)
c.2102G= (p.Arg701=)
c.2201G= (p.Arg734=)
c.2231G= (p.Arg744=)
c.2222G= (p.Arg741=)
c.2192G= (p.Arg731=)
c.2135G= (p.Arg712=)
c.2081G= (p.Arg694=)
c.1874G= (p.Arg625=)
c.2288G= (p.Arg763=)
c.2282G= (p.Arg761=)
c.2279G= (p.Arg760=)
c.2339G= (p.Arg780=)
c.2330G= (p.Arg777=)
c.2249G= (p.Arg750=)
c.2198G= (p.Arg733=)
14g.33800487G>TCA389414148NPAS3c.2180G>T (p.Arg727Leu)
c.2189G>T (p.Arg730Leu)
c.2080G>T
c.793+2906G>T
c.2084G>T (p.Arg695Leu)
c.2141G>T (p.Arg714Leu)
c.2090G>T (p.Arg697Leu)
c.2195G>T (p.Arg732Leu)
c.2102G>T (p.Arg701Leu)
c.2201G>T (p.Arg734Leu)
c.2231G>T (p.Arg744Leu)
c.2222G>T (p.Arg741Leu)
c.2192G>T (p.Arg731Leu)
c.2135G>T (p.Arg712Leu)
c.2081G>T (p.Arg694Leu)
c.1874G>T (p.Arg625Leu)
c.2288G>T (p.Arg763Leu)
c.2282G>T (p.Arg761Leu)
c.2279G>T (p.Arg760Leu)
c.2339G>T (p.Arg780Leu)
c.2330G>T (p.Arg777Leu)
c.2249G>T (p.Arg750Leu)
c.2198G>T (p.Arg733Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800488C>ACA486093238NPAS3c.2181C>A (p.Arg727=)
c.2190C>A (p.Arg730=)
c.2081C>A
c.793+2907C>A
c.2085C>A (p.Arg695=)
c.2142C>A (p.Arg714=)
c.2091C>A (p.Arg697=)
c.2196C>A (p.Arg732=)
c.2103C>A (p.Arg701=)
c.2202C>A (p.Arg734=)
c.2232C>A (p.Arg744=)
c.2223C>A (p.Arg741=)
c.2193C>A (p.Arg731=)
c.2136C>A (p.Arg712=)
c.2082C>A (p.Arg694=)
c.1875C>A (p.Arg625=)
c.2289C>A (p.Arg763=)
c.2283C>A (p.Arg761=)
c.2280C>A (p.Arg760=)
c.2340C>A (p.Arg780=)
c.2331C>A (p.Arg777=)
c.2250C>A (p.Arg750=)
c.2199C>A (p.Arg733=)
 gnomAD v4
14g.33800488C>GCA486093239NPAS3c.2181C>G (p.Arg727=)
c.2190C>G (p.Arg730=)
c.2081C>G
c.793+2907C>G
c.2085C>G (p.Arg695=)
c.2142C>G (p.Arg714=)
c.2091C>G (p.Arg697=)
c.2196C>G (p.Arg732=)
c.2103C>G (p.Arg701=)
c.2202C>G (p.Arg734=)
c.2232C>G (p.Arg744=)
c.2223C>G (p.Arg741=)
c.2193C>G (p.Arg731=)
c.2136C>G (p.Arg712=)
c.2082C>G (p.Arg694=)
c.1875C>G (p.Arg625=)
c.2289C>G (p.Arg763=)
c.2283C>G (p.Arg761=)
c.2280C>G (p.Arg760=)
c.2340C>G (p.Arg780=)
c.2331C>G (p.Arg777=)
c.2250C>G (p.Arg750=)
c.2199C>G (p.Arg733=)
 gnomAD v4
14g.33800488C>TCA486093240NPAS3c.2181C>T (p.Arg727=)
c.2190C>T (p.Arg730=)
c.2081C>T
c.793+2907C>T
c.2085C>T (p.Arg695=)
c.2142C>T (p.Arg714=)
c.2091C>T (p.Arg697=)
c.2196C>T (p.Arg732=)
c.2103C>T (p.Arg701=)
c.2202C>T (p.Arg734=)
c.2232C>T (p.Arg744=)
c.2223C>T (p.Arg741=)
c.2193C>T (p.Arg731=)
c.2136C>T (p.Arg712=)
c.2082C>T (p.Arg694=)
c.1875C>T (p.Arg625=)
c.2289C>T (p.Arg763=)
c.2283C>T (p.Arg761=)
c.2280C>T (p.Arg760=)
c.2340C>T (p.Arg780=)
c.2331C>T (p.Arg777=)
c.2250C>T (p.Arg750=)
c.2199C>T (p.Arg733=)
 gnomAD v4
14g.33800489A>CCA389414149NPAS3c.2182A>C (p.Lys728Gln)
c.2191A>C (p.Lys731Gln)
c.2082A>C
c.793+2908A>C
c.2086A>C (p.Lys696Gln)
c.2143A>C (p.Lys715Gln)
c.2092A>C (p.Lys698Gln)
c.2197A>C (p.Lys733Gln)
c.2104A>C (p.Lys702Gln)
c.2203A>C (p.Lys735Gln)
c.2233A>C (p.Lys745Gln)
c.2224A>C (p.Lys742Gln)
c.2194A>C (p.Lys732Gln)
c.2137A>C (p.Lys713Gln)
c.2083A>C (p.Lys695Gln)
c.1876A>C (p.Lys626Gln)
c.2290A>C (p.Lys764Gln)
c.2284A>C (p.Lys762Gln)
c.2281A>C (p.Lys761Gln)
c.2341A>C (p.Lys781Gln)
c.2332A>C (p.Lys778Gln)
c.2251A>C (p.Lys751Gln)
c.2200A>C (p.Lys734Gln)
14g.33800489A>GCA389414150NPAS3c.2182A>G (p.Lys728Glu)
c.2191A>G (p.Lys731Glu)
c.2082A>G
c.793+2908A>G
c.2086A>G (p.Lys696Glu)
c.2143A>G (p.Lys715Glu)
c.2092A>G (p.Lys698Glu)
c.2197A>G (p.Lys733Glu)
c.2104A>G (p.Lys702Glu)
c.2203A>G (p.Lys735Glu)
c.2233A>G (p.Lys745Glu)
c.2224A>G (p.Lys742Glu)
c.2194A>G (p.Lys732Glu)
c.2137A>G (p.Lys713Glu)
c.2083A>G (p.Lys695Glu)
c.1876A>G (p.Lys626Glu)
c.2290A>G (p.Lys764Glu)
c.2284A>G (p.Lys762Glu)
c.2281A>G (p.Lys761Glu)
c.2341A>G (p.Lys781Glu)
c.2332A>G (p.Lys778Glu)
c.2251A>G (p.Lys751Glu)
c.2200A>G (p.Lys734Glu)
 gnomAD v4
14g.33800489A>TCA389414151NPAS3c.2182A>T (p.Lys728Ter)
c.2191A>T (p.Lys731Ter)
c.2082A>T
c.793+2908A>T
c.2086A>T (p.Lys696Ter)
c.2143A>T (p.Lys715Ter)
c.2092A>T (p.Lys698Ter)
c.2197A>T (p.Lys733Ter)
c.2104A>T (p.Lys702Ter)
c.2203A>T (p.Lys735Ter)
c.2233A>T (p.Lys745Ter)
c.2224A>T (p.Lys742Ter)
c.2194A>T (p.Lys732Ter)
c.2137A>T (p.Lys713Ter)
c.2083A>T (p.Lys695Ter)
c.1876A>T (p.Lys626Ter)
c.2290A>T (p.Lys764Ter)
c.2284A>T (p.Lys762Ter)
c.2281A>T (p.Lys761Ter)
c.2341A>T (p.Lys781Ter)
c.2332A>T (p.Lys778Ter)
c.2251A>T (p.Lys751Ter)
c.2200A>T (p.Lys734Ter)
14g.33800490A>CCA389414152NPAS3c.2183A>C (p.Lys728Thr)
c.2192A>C (p.Lys731Thr)
c.2083A>C
c.793+2909A>C
c.2087A>C (p.Lys696Thr)
c.2144A>C (p.Lys715Thr)
c.2093A>C (p.Lys698Thr)
c.2198A>C (p.Lys733Thr)
c.2105A>C (p.Lys702Thr)
c.2204A>C (p.Lys735Thr)
c.2234A>C (p.Lys745Thr)
c.2225A>C (p.Lys742Thr)
c.2195A>C (p.Lys732Thr)
c.2138A>C (p.Lys713Thr)
c.2084A>C (p.Lys695Thr)
c.1877A>C (p.Lys626Thr)
c.2291A>C (p.Lys764Thr)
c.2285A>C (p.Lys762Thr)
c.2282A>C (p.Lys761Thr)
c.2342A>C (p.Lys781Thr)
c.2333A>C (p.Lys778Thr)
c.2252A>C (p.Lys751Thr)
c.2201A>C (p.Lys734Thr)
14g.33800490A>GCA389414153NPAS3c.2183A>G (p.Lys728Arg)
c.2192A>G (p.Lys731Arg)
c.2083A>G
c.793+2909A>G
c.2087A>G (p.Lys696Arg)
c.2144A>G (p.Lys715Arg)
c.2093A>G (p.Lys698Arg)
c.2198A>G (p.Lys733Arg)
c.2105A>G (p.Lys702Arg)
c.2204A>G (p.Lys735Arg)
c.2234A>G (p.Lys745Arg)
c.2225A>G (p.Lys742Arg)
c.2195A>G (p.Lys732Arg)
c.2138A>G (p.Lys713Arg)
c.2084A>G (p.Lys695Arg)
c.1877A>G (p.Lys626Arg)
c.2291A>G (p.Lys764Arg)
c.2285A>G (p.Lys762Arg)
c.2282A>G (p.Lys761Arg)
c.2342A>G (p.Lys781Arg)
c.2333A>G (p.Lys778Arg)
c.2252A>G (p.Lys751Arg)
c.2201A>G (p.Lys734Arg)
 gnomAD v4
14g.33800490A>TCA389414154NPAS3c.2183A>T (p.Lys728Met)
c.2192A>T (p.Lys731Met)
c.2083A>T
c.793+2909A>T
c.2087A>T (p.Lys696Met)
c.2144A>T (p.Lys715Met)
c.2093A>T (p.Lys698Met)
c.2198A>T (p.Lys733Met)
c.2105A>T (p.Lys702Met)
c.2204A>T (p.Lys735Met)
c.2234A>T (p.Lys745Met)
c.2225A>T (p.Lys742Met)
c.2195A>T (p.Lys732Met)
c.2138A>T (p.Lys713Met)
c.2084A>T (p.Lys695Met)
c.1877A>T (p.Lys626Met)
c.2291A>T (p.Lys764Met)
c.2285A>T (p.Lys762Met)
c.2282A>T (p.Lys761Met)
c.2342A>T (p.Lys781Met)
c.2333A>T (p.Lys778Met)
c.2252A>T (p.Lys751Met)
c.2201A>T (p.Lys734Met)
14g.33800491G>ACA486093244NPAS3c.2184G>A (p.Lys728=)
c.2193G>A (p.Lys731=)
c.2084G>A
c.793+2910G>A
c.2088G>A (p.Lys696=)
c.2145G>A (p.Lys715=)
c.2094G>A (p.Lys698=)
c.2199G>A (p.Lys733=)
c.2106G>A (p.Lys702=)
c.2205G>A (p.Lys735=)
c.2235G>A (p.Lys745=)
c.2226G>A (p.Lys742=)
c.2196G>A (p.Lys732=)
c.2139G>A (p.Lys713=)
c.2085G>A (p.Lys695=)
c.1878G>A (p.Lys626=)
c.2292G>A (p.Lys764=)
c.2286G>A (p.Lys762=)
c.2283G>A (p.Lys761=)
c.2343G>A (p.Lys781=)
c.2334G>A (p.Lys778=)
c.2253G>A (p.Lys751=)
c.2202G>A (p.Lys734=)
 gnomAD v4
14g.33800491G>CCA389414155NPAS3c.2184G>C (p.Lys728Asn)
c.2193G>C (p.Lys731Asn)
c.2084G>C
c.793+2910G>C
c.2088G>C (p.Lys696Asn)
c.2145G>C (p.Lys715Asn)
c.2094G>C (p.Lys698Asn)
c.2199G>C (p.Lys733Asn)
c.2106G>C (p.Lys702Asn)
c.2205G>C (p.Lys735Asn)
c.2235G>C (p.Lys745Asn)
c.2226G>C (p.Lys742Asn)
c.2196G>C (p.Lys732Asn)
c.2139G>C (p.Lys713Asn)
c.2085G>C (p.Lys695Asn)
c.1878G>C (p.Lys626Asn)
c.2292G>C (p.Lys764Asn)
c.2286G>C (p.Lys762Asn)
c.2283G>C (p.Lys761Asn)
c.2343G>C (p.Lys781Asn)
c.2334G>C (p.Lys778Asn)
c.2253G>C (p.Lys751Asn)
c.2202G>C (p.Lys734Asn)
14g.33800491G>TCA389414156NPAS3c.2184G>T (p.Lys728Asn)
c.2193G>T (p.Lys731Asn)
c.2084G>T
c.793+2910G>T
c.2088G>T (p.Lys696Asn)
c.2145G>T (p.Lys715Asn)
c.2094G>T (p.Lys698Asn)
c.2199G>T (p.Lys733Asn)
c.2106G>T (p.Lys702Asn)
c.2205G>T (p.Lys735Asn)
c.2235G>T (p.Lys745Asn)
c.2226G>T (p.Lys742Asn)
c.2196G>T (p.Lys732Asn)
c.2139G>T (p.Lys713Asn)
c.2085G>T (p.Lys695Asn)
c.1878G>T (p.Lys626Asn)
c.2292G>T (p.Lys764Asn)
c.2286G>T (p.Lys762Asn)
c.2283G>T (p.Lys761Asn)
c.2343G>T (p.Lys781Asn)
c.2334G>T (p.Lys778Asn)
c.2253G>T (p.Lys751Asn)
c.2202G>T (p.Lys734Asn)
 gnomAD v4
14g.33800492A=CA2128327617NPAS3c.2185A= (p.Thr729=)
c.2194A= (p.Thr732=)
c.2085A=
c.793+2911A=
c.2089A= (p.Thr697=)
c.2146A= (p.Thr716=)
c.2095A= (p.Thr699=)
c.2200A= (p.Thr734=)
c.2107A= (p.Thr703=)
c.2206A= (p.Thr736=)
c.2236A= (p.Thr746=)
c.2227A= (p.Thr743=)
c.2197A= (p.Thr733=)
c.2140A= (p.Thr714=)
c.2086A= (p.Thr696=)
c.1879A= (p.Thr627=)
c.2293A= (p.Thr765=)
c.2287A= (p.Thr763=)
c.2284A= (p.Thr762=)
c.2344A= (p.Thr782=)
c.2335A= (p.Thr779=)
c.2254A= (p.Thr752=)
c.2203A= (p.Thr735=)
14g.33800492A>CCA389414157NPAS3c.2185A>C (p.Thr729Pro)
c.2194A>C (p.Thr732Pro)
c.2085A>C
c.793+2911A>C
c.2089A>C (p.Thr697Pro)
c.2146A>C (p.Thr716Pro)
c.2095A>C (p.Thr699Pro)
c.2200A>C (p.Thr734Pro)
c.2107A>C (p.Thr703Pro)
c.2206A>C (p.Thr736Pro)
c.2236A>C (p.Thr746Pro)
c.2227A>C (p.Thr743Pro)
c.2197A>C (p.Thr733Pro)
c.2140A>C (p.Thr714Pro)
c.2086A>C (p.Thr696Pro)
c.1879A>C (p.Thr627Pro)
c.2293A>C (p.Thr765Pro)
c.2287A>C (p.Thr763Pro)
c.2284A>C (p.Thr762Pro)
c.2344A>C (p.Thr782Pro)
c.2335A>C (p.Thr779Pro)
c.2254A>C (p.Thr752Pro)
c.2203A>C (p.Thr735Pro)
 dbSNP gnomAD v3 gnomAD v4
14g.33800492A>GCA389414158NPAS3c.2185A>G (p.Thr729Ala)
c.2194A>G (p.Thr732Ala)
c.2085A>G
c.793+2911A>G
c.2089A>G (p.Thr697Ala)
c.2146A>G (p.Thr716Ala)
c.2095A>G (p.Thr699Ala)
c.2200A>G (p.Thr734Ala)
c.2107A>G (p.Thr703Ala)
c.2206A>G (p.Thr736Ala)
c.2236A>G (p.Thr746Ala)
c.2227A>G (p.Thr743Ala)
c.2197A>G (p.Thr733Ala)
c.2140A>G (p.Thr714Ala)
c.2086A>G (p.Thr696Ala)
c.1879A>G (p.Thr627Ala)
c.2293A>G (p.Thr765Ala)
c.2287A>G (p.Thr763Ala)
c.2284A>G (p.Thr762Ala)
c.2344A>G (p.Thr782Ala)
c.2335A>G (p.Thr779Ala)
c.2254A>G (p.Thr752Ala)
c.2203A>G (p.Thr735Ala)
 gnomAD v4
14g.33800492A>TCA389414159NPAS3c.2185A>T (p.Thr729Ser)
c.2194A>T (p.Thr732Ser)
c.2085A>T
c.793+2911A>T
c.2089A>T (p.Thr697Ser)
c.2146A>T (p.Thr716Ser)
c.2095A>T (p.Thr699Ser)
c.2200A>T (p.Thr734Ser)
c.2107A>T (p.Thr703Ser)
c.2206A>T (p.Thr736Ser)
c.2236A>T (p.Thr746Ser)
c.2227A>T (p.Thr743Ser)
c.2197A>T (p.Thr733Ser)
c.2140A>T (p.Thr714Ser)
c.2086A>T (p.Thr696Ser)
c.1879A>T (p.Thr627Ser)
c.2293A>T (p.Thr765Ser)
c.2287A>T (p.Thr763Ser)
c.2284A>T (p.Thr762Ser)
c.2344A>T (p.Thr782Ser)
c.2335A>T (p.Thr779Ser)
c.2254A>T (p.Thr752Ser)
c.2203A>T (p.Thr735Ser)
 gnomAD v4
14g.33800493C>ACA389414160NPAS3c.2186C>A (p.Thr729Asn)
c.2195C>A (p.Thr732Asn)
c.2086C>A
c.793+2912C>A
c.2090C>A (p.Thr697Asn)
c.2147C>A (p.Thr716Asn)
c.2096C>A (p.Thr699Asn)
c.2201C>A (p.Thr734Asn)
c.2108C>A (p.Thr703Asn)
c.2207C>A (p.Thr736Asn)
c.2237C>A (p.Thr746Asn)
c.2228C>A (p.Thr743Asn)
c.2198C>A (p.Thr733Asn)
c.2141C>A (p.Thr714Asn)
c.2087C>A (p.Thr696Asn)
c.1880C>A (p.Thr627Asn)
c.2294C>A (p.Thr765Asn)
c.2288C>A (p.Thr763Asn)
c.2285C>A (p.Thr762Asn)
c.2345C>A (p.Thr782Asn)
c.2336C>A (p.Thr779Asn)
c.2255C>A (p.Thr752Asn)
c.2204C>A (p.Thr735Asn)
 gnomAD v4
14g.33800493C>GCA389414161NPAS3c.2186C>G (p.Thr729Ser)
c.2195C>G (p.Thr732Ser)
c.2086C>G
c.793+2912C>G
c.2090C>G (p.Thr697Ser)
c.2147C>G (p.Thr716Ser)
c.2096C>G (p.Thr699Ser)
c.2201C>G (p.Thr734Ser)
c.2108C>G (p.Thr703Ser)
c.2207C>G (p.Thr736Ser)
c.2237C>G (p.Thr746Ser)
c.2228C>G (p.Thr743Ser)
c.2198C>G (p.Thr733Ser)
c.2141C>G (p.Thr714Ser)
c.2087C>G (p.Thr696Ser)
c.1880C>G (p.Thr627Ser)
c.2294C>G (p.Thr765Ser)
c.2288C>G (p.Thr763Ser)
c.2285C>G (p.Thr762Ser)
c.2345C>G (p.Thr782Ser)
c.2336C>G (p.Thr779Ser)
c.2255C>G (p.Thr752Ser)
c.2204C>G (p.Thr735Ser)
14g.33800493C>TCA389414162NPAS3c.2186C>T (p.Thr729Ile)
c.2195C>T (p.Thr732Ile)
c.2086C>T
c.793+2912C>T
c.2090C>T (p.Thr697Ile)
c.2147C>T (p.Thr716Ile)
c.2096C>T (p.Thr699Ile)
c.2201C>T (p.Thr734Ile)
c.2108C>T (p.Thr703Ile)
c.2207C>T (p.Thr736Ile)
c.2237C>T (p.Thr746Ile)
c.2228C>T (p.Thr743Ile)
c.2198C>T (p.Thr733Ile)
c.2141C>T (p.Thr714Ile)
c.2087C>T (p.Thr696Ile)
c.1880C>T (p.Thr627Ile)
c.2294C>T (p.Thr765Ile)
c.2288C>T (p.Thr763Ile)
c.2285C>T (p.Thr762Ile)
c.2345C>T (p.Thr782Ile)
c.2336C>T (p.Thr779Ile)
c.2255C>T (p.Thr752Ile)
c.2204C>T (p.Thr735Ile)
14g.33800494T>ACA486093251NPAS3c.2187T>A (p.Thr729=)
c.2196T>A (p.Thr732=)
c.2087T>A
c.793+2913T>A
c.2091T>A (p.Thr697=)
c.2148T>A (p.Thr716=)
c.2097T>A (p.Thr699=)
c.2202T>A (p.Thr734=)
c.2109T>A (p.Thr703=)
c.2208T>A (p.Thr736=)
c.2238T>A (p.Thr746=)
c.2229T>A (p.Thr743=)
c.2199T>A (p.Thr733=)
c.2142T>A (p.Thr714=)
c.2088T>A (p.Thr696=)
c.1881T>A (p.Thr627=)
c.2295T>A (p.Thr765=)
c.2289T>A (p.Thr763=)
c.2286T>A (p.Thr762=)
c.2346T>A (p.Thr782=)
c.2337T>A (p.Thr779=)
c.2256T>A (p.Thr752=)
c.2205T>A (p.Thr735=)
14g.33800494T>CCA486093248NPAS3c.2187T>C (p.Thr729=)
c.2196T>C (p.Thr732=)
c.2087T>C
c.793+2913T>C
c.2091T>C (p.Thr697=)
c.2148T>C (p.Thr716=)
c.2097T>C (p.Thr699=)
c.2202T>C (p.Thr734=)
c.2109T>C (p.Thr703=)
c.2208T>C (p.Thr736=)
c.2238T>C (p.Thr746=)
c.2229T>C (p.Thr743=)
c.2199T>C (p.Thr733=)
c.2142T>C (p.Thr714=)
c.2088T>C (p.Thr696=)
c.1881T>C (p.Thr627=)
c.2295T>C (p.Thr765=)
c.2289T>C (p.Thr763=)
c.2286T>C (p.Thr762=)
c.2346T>C (p.Thr782=)
c.2337T>C (p.Thr779=)
c.2256T>C (p.Thr752=)
c.2205T>C (p.Thr735=)
 gnomAD v4
14g.33800494T>GCA486093249NPAS3c.2187T>G (p.Thr729=)
c.2196T>G (p.Thr732=)
c.2087T>G
c.793+2913T>G
c.2091T>G (p.Thr697=)
c.2148T>G (p.Thr716=)
c.2097T>G (p.Thr699=)
c.2202T>G (p.Thr734=)
c.2109T>G (p.Thr703=)
c.2208T>G (p.Thr736=)
c.2238T>G (p.Thr746=)
c.2229T>G (p.Thr743=)
c.2199T>G (p.Thr733=)
c.2142T>G (p.Thr714=)
c.2088T>G (p.Thr696=)
c.1881T>G (p.Thr627=)
c.2295T>G (p.Thr765=)
c.2289T>G (p.Thr763=)
c.2286T>G (p.Thr762=)
c.2346T>G (p.Thr782=)
c.2337T>G (p.Thr779=)
c.2256T>G (p.Thr752=)
c.2205T>G (p.Thr735=)
14g.33800495C>ACA389414165NPAS3c.2188C>A (p.Gln730Lys)
c.2197C>A (p.Gln733Lys)
c.2088C>A
c.793+2914C>A
c.2092C>A (p.Gln698Lys)
c.2149C>A (p.Gln717Lys)
c.2098C>A (p.Gln700Lys)
c.2203C>A (p.Gln735Lys)
c.2110C>A (p.Gln704Lys)
c.2209C>A (p.Gln737Lys)
c.2239C>A (p.Gln747Lys)
c.2230C>A (p.Gln744Lys)
c.2200C>A (p.Gln734Lys)
c.2143C>A (p.Gln715Lys)
c.2089C>A (p.Gln697Lys)
c.1882C>A (p.Gln628Lys)
c.2296C>A (p.Gln766Lys)
c.2290C>A (p.Gln764Lys)
c.2287C>A (p.Gln763Lys)
c.2347C>A (p.Gln783Lys)
c.2338C>A (p.Gln780Lys)
c.2257C>A (p.Gln753Lys)
c.2206C>A (p.Gln736Lys)
 gnomAD v4
14g.33800495C>GCA389414163NPAS3c.2188C>G (p.Gln730Glu)
c.2197C>G (p.Gln733Glu)
c.2088C>G
c.793+2914C>G
c.2092C>G (p.Gln698Glu)
c.2149C>G (p.Gln717Glu)
c.2098C>G (p.Gln700Glu)
c.2203C>G (p.Gln735Glu)
c.2110C>G (p.Gln704Glu)
c.2209C>G (p.Gln737Glu)
c.2239C>G (p.Gln747Glu)
c.2230C>G (p.Gln744Glu)
c.2200C>G (p.Gln734Glu)
c.2143C>G (p.Gln715Glu)
c.2089C>G (p.Gln697Glu)
c.1882C>G (p.Gln628Glu)
c.2296C>G (p.Gln766Glu)
c.2290C>G (p.Gln764Glu)
c.2287C>G (p.Gln763Glu)
c.2347C>G (p.Gln783Glu)
c.2338C>G (p.Gln780Glu)
c.2257C>G (p.Gln753Glu)
c.2206C>G (p.Gln736Glu)
14g.33800495C>TCA389414164NPAS3c.2188C>T (p.Gln730Ter)
c.2197C>T (p.Gln733Ter)
c.2088C>T
c.793+2914C>T
c.2092C>T (p.Gln698Ter)
c.2149C>T (p.Gln717Ter)
c.2098C>T (p.Gln700Ter)
c.2203C>T (p.Gln735Ter)
c.2110C>T (p.Gln704Ter)
c.2209C>T (p.Gln737Ter)
c.2239C>T (p.Gln747Ter)
c.2230C>T (p.Gln744Ter)
c.2200C>T (p.Gln734Ter)
c.2143C>T (p.Gln715Ter)
c.2089C>T (p.Gln697Ter)
c.1882C>T (p.Gln628Ter)
c.2296C>T (p.Gln766Ter)
c.2290C>T (p.Gln764Ter)
c.2287C>T (p.Gln763Ter)
c.2347C>T (p.Gln783Ter)
c.2338C>T (p.Gln780Ter)
c.2257C>T (p.Gln753Ter)
c.2206C>T (p.Gln736Ter)
 gnomAD v4
14g.33800496A=CA2128327619NPAS3c.2189A= (p.Gln730=)
c.2198A= (p.Gln733=)
c.2089A=
c.793+2915A=
c.2093A= (p.Gln698=)
c.2150A= (p.Gln717=)
c.2099A= (p.Gln700=)
c.2204A= (p.Gln735=)
c.2111A= (p.Gln704=)
c.2210A= (p.Gln737=)
c.2240A= (p.Gln747=)
c.2231A= (p.Gln744=)
c.2201A= (p.Gln734=)
c.2144A= (p.Gln715=)
c.2090A= (p.Gln697=)
c.1883A= (p.Gln628=)
c.2297A= (p.Gln766=)
c.2291A= (p.Gln764=)
c.2288A= (p.Gln763=)
c.2348A= (p.Gln783=)
c.2339A= (p.Gln780=)
c.2258A= (p.Gln753=)
c.2207A= (p.Gln736=)
14g.33800496A>CCA389414166NPAS3c.2189A>C (p.Gln730Pro)
c.2198A>C (p.Gln733Pro)
c.2089A>C
c.793+2915A>C
c.2093A>C (p.Gln698Pro)
c.2150A>C (p.Gln717Pro)
c.2099A>C (p.Gln700Pro)
c.2204A>C (p.Gln735Pro)
c.2111A>C (p.Gln704Pro)
c.2210A>C (p.Gln737Pro)
c.2240A>C (p.Gln747Pro)
c.2231A>C (p.Gln744Pro)
c.2201A>C (p.Gln734Pro)
c.2144A>C (p.Gln715Pro)
c.2090A>C (p.Gln697Pro)
c.1883A>C (p.Gln628Pro)
c.2297A>C (p.Gln766Pro)
c.2291A>C (p.Gln764Pro)
c.2288A>C (p.Gln763Pro)
c.2348A>C (p.Gln783Pro)
c.2339A>C (p.Gln780Pro)
c.2258A>C (p.Gln753Pro)
c.2207A>C (p.Gln736Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800496A>GCA389414167NPAS3c.2189A>G (p.Gln730Arg)
c.2198A>G (p.Gln733Arg)
c.2089A>G
c.793+2915A>G
c.2093A>G (p.Gln698Arg)
c.2150A>G (p.Gln717Arg)
c.2099A>G (p.Gln700Arg)
c.2204A>G (p.Gln735Arg)
c.2111A>G (p.Gln704Arg)
c.2210A>G (p.Gln737Arg)
c.2240A>G (p.Gln747Arg)
c.2231A>G (p.Gln744Arg)
c.2201A>G (p.Gln734Arg)
c.2144A>G (p.Gln715Arg)
c.2090A>G (p.Gln697Arg)
c.1883A>G (p.Gln628Arg)
c.2297A>G (p.Gln766Arg)
c.2291A>G (p.Gln764Arg)
c.2288A>G (p.Gln763Arg)
c.2348A>G (p.Gln783Arg)
c.2339A>G (p.Gln780Arg)
c.2258A>G (p.Gln753Arg)
c.2207A>G (p.Gln736Arg)
 gnomAD v4
14g.33800496A>TCA389414168NPAS3c.2189A>T (p.Gln730Leu)
c.2198A>T (p.Gln733Leu)
c.2089A>T
c.793+2915A>T
c.2093A>T (p.Gln698Leu)
c.2150A>T (p.Gln717Leu)
c.2099A>T (p.Gln700Leu)
c.2204A>T (p.Gln735Leu)
c.2111A>T (p.Gln704Leu)
c.2210A>T (p.Gln737Leu)
c.2240A>T (p.Gln747Leu)
c.2231A>T (p.Gln744Leu)
c.2201A>T (p.Gln734Leu)
c.2144A>T (p.Gln715Leu)
c.2090A>T (p.Gln697Leu)
c.1883A>T (p.Gln628Leu)
c.2297A>T (p.Gln766Leu)
c.2291A>T (p.Gln764Leu)
c.2288A>T (p.Gln763Leu)
c.2348A>T (p.Gln783Leu)
c.2339A>T (p.Gln780Leu)
c.2258A>T (p.Gln753Leu)
c.2207A>T (p.Gln736Leu)
14g.33800497G>ACA486093257NPAS3c.2190G>A (p.Gln730=)
c.2199G>A (p.Gln733=)
c.2090G>A
c.793+2916G>A
c.2094G>A (p.Gln698=)
c.2151G>A (p.Gln717=)
c.2100G>A (p.Gln700=)
c.2205G>A (p.Gln735=)
c.2112G>A (p.Gln704=)
c.2211G>A (p.Gln737=)
c.2241G>A (p.Gln747=)
c.2232G>A (p.Gln744=)
c.2202G>A (p.Gln734=)
c.2145G>A (p.Gln715=)
c.2091G>A (p.Gln697=)
c.1884G>A (p.Gln628=)
c.2298G>A (p.Gln766=)
c.2292G>A (p.Gln764=)
c.2289G>A (p.Gln763=)
c.2349G>A (p.Gln783=)
c.2340G>A (p.Gln780=)
c.2259G>A (p.Gln753=)
c.2208G>A (p.Gln736=)
 gnomAD v4
14g.33800497G>CCA389414169NPAS3c.2190G>C (p.Gln730His)
c.2199G>C (p.Gln733His)
c.2090G>C
c.793+2916G>C
c.2094G>C (p.Gln698His)
c.2151G>C (p.Gln717His)
c.2100G>C (p.Gln700His)
c.2205G>C (p.Gln735His)
c.2112G>C (p.Gln704His)
c.2211G>C (p.Gln737His)
c.2241G>C (p.Gln747His)
c.2232G>C (p.Gln744His)
c.2202G>C (p.Gln734His)
c.2145G>C (p.Gln715His)
c.2091G>C (p.Gln697His)
c.1884G>C (p.Gln628His)
c.2298G>C (p.Gln766His)
c.2292G>C (p.Gln764His)
c.2289G>C (p.Gln763His)
c.2349G>C (p.Gln783His)
c.2340G>C (p.Gln780His)
c.2259G>C (p.Gln753His)
c.2208G>C (p.Gln736His)
14g.33800497G=CA2128327623NPAS3c.2190G= (p.Gln730=)
c.2199G= (p.Gln733=)
c.2090G=
c.793+2916G=
c.2094G= (p.Gln698=)
c.2151G= (p.Gln717=)
c.2100G= (p.Gln700=)
c.2205G= (p.Gln735=)
c.2112G= (p.Gln704=)
c.2211G= (p.Gln737=)
c.2241G= (p.Gln747=)
c.2232G= (p.Gln744=)
c.2202G= (p.Gln734=)
c.2145G= (p.Gln715=)
c.2091G= (p.Gln697=)
c.1884G= (p.Gln628=)
c.2298G= (p.Gln766=)
c.2292G= (p.Gln764=)
c.2289G= (p.Gln763=)
c.2349G= (p.Gln783=)
c.2340G= (p.Gln780=)
c.2259G= (p.Gln753=)
c.2208G= (p.Gln736=)
14g.33800497G>TCA389414170NPAS3c.2190G>T (p.Gln730His)
c.2199G>T (p.Gln733His)
c.2090G>T
c.793+2916G>T
c.2094G>T (p.Gln698His)
c.2151G>T (p.Gln717His)
c.2100G>T (p.Gln700His)
c.2205G>T (p.Gln735His)
c.2112G>T (p.Gln704His)
c.2211G>T (p.Gln737His)
c.2241G>T (p.Gln747His)
c.2232G>T (p.Gln744His)
c.2202G>T (p.Gln734His)
c.2145G>T (p.Gln715His)
c.2091G>T (p.Gln697His)
c.1884G>T (p.Gln628His)
c.2298G>T (p.Gln766His)
c.2292G>T (p.Gln764His)
c.2289G>T (p.Gln763His)
c.2349G>T (p.Gln783His)
c.2340G>T (p.Gln780His)
c.2259G>T (p.Gln753His)
c.2208G>T (p.Gln736His)
 dbSNP gnomAD v3 gnomAD v4
14g.33800498T>ACA389414171NPAS3c.2191T>A (p.Phe731Ile)
c.2200T>A (p.Phe734Ile)
c.2091T>A
c.793+2917T>A
c.2095T>A (p.Phe699Ile)
c.2152T>A (p.Phe718Ile)
c.2101T>A (p.Phe701Ile)
c.2206T>A (p.Phe736Ile)
c.2113T>A (p.Phe705Ile)
c.2212T>A (p.Phe738Ile)
c.2242T>A (p.Phe748Ile)
c.2233T>A (p.Phe745Ile)
c.2203T>A (p.Phe735Ile)
c.2146T>A (p.Phe716Ile)
c.2092T>A (p.Phe698Ile)
c.1885T>A (p.Phe629Ile)
c.2299T>A (p.Phe767Ile)
c.2293T>A (p.Phe765Ile)
c.2290T>A (p.Phe764Ile)
c.2350T>A (p.Phe784Ile)
c.2341T>A (p.Phe781Ile)
c.2260T>A (p.Phe754Ile)
c.2209T>A (p.Phe737Ile)
14g.33800498T>CCA389414173NPAS3c.2191T>C (p.Phe731Leu)
c.2200T>C (p.Phe734Leu)
c.2091T>C
c.793+2917T>C
c.2095T>C (p.Phe699Leu)
c.2152T>C (p.Phe718Leu)
c.2101T>C (p.Phe701Leu)
c.2206T>C (p.Phe736Leu)
c.2113T>C (p.Phe705Leu)
c.2212T>C (p.Phe738Leu)
c.2242T>C (p.Phe748Leu)
c.2233T>C (p.Phe745Leu)
c.2203T>C (p.Phe735Leu)
c.2146T>C (p.Phe716Leu)
c.2092T>C (p.Phe698Leu)
c.1885T>C (p.Phe629Leu)
c.2299T>C (p.Phe767Leu)
c.2293T>C (p.Phe765Leu)
c.2290T>C (p.Phe764Leu)
c.2350T>C (p.Phe784Leu)
c.2341T>C (p.Phe781Leu)
c.2260T>C (p.Phe754Leu)
c.2209T>C (p.Phe737Leu)
 gnomAD v4
14g.33800498T>GCA389414172NPAS3c.2191T>G (p.Phe731Val)
c.2200T>G (p.Phe734Val)
c.2091T>G
c.793+2917T>G
c.2095T>G (p.Phe699Val)
c.2152T>G (p.Phe718Val)
c.2101T>G (p.Phe701Val)
c.2206T>G (p.Phe736Val)
c.2113T>G (p.Phe705Val)
c.2212T>G (p.Phe738Val)
c.2242T>G (p.Phe748Val)
c.2233T>G (p.Phe745Val)
c.2203T>G (p.Phe735Val)
c.2146T>G (p.Phe716Val)
c.2092T>G (p.Phe698Val)
c.1885T>G (p.Phe629Val)
c.2299T>G (p.Phe767Val)
c.2293T>G (p.Phe765Val)
c.2290T>G (p.Phe764Val)
c.2350T>G (p.Phe784Val)
c.2341T>G (p.Phe781Val)
c.2260T>G (p.Phe754Val)
c.2209T>G (p.Phe737Val)
14g.33800499T>ACA389414174NPAS3c.2192T>A (p.Phe731Tyr)
c.2201T>A (p.Phe734Tyr)
c.2092T>A
c.793+2918T>A
c.2096T>A (p.Phe699Tyr)
c.2153T>A (p.Phe718Tyr)
c.2102T>A (p.Phe701Tyr)
c.2207T>A (p.Phe736Tyr)
c.2114T>A (p.Phe705Tyr)
c.2213T>A (p.Phe738Tyr)
c.2243T>A (p.Phe748Tyr)
c.2234T>A (p.Phe745Tyr)
c.2204T>A (p.Phe735Tyr)
c.2147T>A (p.Phe716Tyr)
c.2093T>A (p.Phe698Tyr)
c.1886T>A (p.Phe629Tyr)
c.2300T>A (p.Phe767Tyr)
c.2294T>A (p.Phe765Tyr)
c.2291T>A (p.Phe764Tyr)
c.2351T>A (p.Phe784Tyr)
c.2342T>A (p.Phe781Tyr)
c.2261T>A (p.Phe754Tyr)
c.2210T>A (p.Phe737Tyr)
 dbSNP gnomAD v2 gnomAD v4
14g.33800499T>CCA389414175NPAS3c.2192T>C (p.Phe731Ser)
c.2201T>C (p.Phe734Ser)
c.2092T>C
c.793+2918T>C
c.2096T>C (p.Phe699Ser)
c.2153T>C (p.Phe718Ser)
c.2102T>C (p.Phe701Ser)
c.2207T>C (p.Phe736Ser)
c.2114T>C (p.Phe705Ser)
c.2213T>C (p.Phe738Ser)
c.2243T>C (p.Phe748Ser)
c.2234T>C (p.Phe745Ser)
c.2204T>C (p.Phe735Ser)
c.2147T>C (p.Phe716Ser)
c.2093T>C (p.Phe698Ser)
c.1886T>C (p.Phe629Ser)
c.2300T>C (p.Phe767Ser)
c.2294T>C (p.Phe765Ser)
c.2291T>C (p.Phe764Ser)
c.2351T>C (p.Phe784Ser)
c.2342T>C (p.Phe781Ser)
c.2261T>C (p.Phe754Ser)
c.2210T>C (p.Phe737Ser)
 gnomAD v4
14g.33800499T>GCA389414176NPAS3c.2192T>G (p.Phe731Cys)
c.2201T>G (p.Phe734Cys)
c.2092T>G
c.793+2918T>G
c.2096T>G (p.Phe699Cys)
c.2153T>G (p.Phe718Cys)
c.2102T>G (p.Phe701Cys)
c.2207T>G (p.Phe736Cys)
c.2114T>G (p.Phe705Cys)
c.2213T>G (p.Phe738Cys)
c.2243T>G (p.Phe748Cys)
c.2234T>G (p.Phe745Cys)
c.2204T>G (p.Phe735Cys)
c.2147T>G (p.Phe716Cys)
c.2093T>G (p.Phe698Cys)
c.1886T>G (p.Phe629Cys)
c.2300T>G (p.Phe767Cys)
c.2294T>G (p.Phe765Cys)
c.2291T>G (p.Phe764Cys)
c.2351T>G (p.Phe784Cys)
c.2342T>G (p.Phe781Cys)
c.2261T>G (p.Phe754Cys)
c.2210T>G (p.Phe737Cys)
14g.33800499T=CA2128327626NPAS3c.2192T= (p.Phe731=)
c.2201T= (p.Phe734=)
c.2092T=
c.793+2918T=
c.2096T= (p.Phe699=)
c.2153T= (p.Phe718=)
c.2102T= (p.Phe701=)
c.2207T= (p.Phe736=)
c.2114T= (p.Phe705=)
c.2213T= (p.Phe738=)
c.2243T= (p.Phe748=)
c.2234T= (p.Phe745=)
c.2204T= (p.Phe735=)
c.2147T= (p.Phe716=)
c.2093T= (p.Phe698=)
c.1886T= (p.Phe629=)
c.2300T= (p.Phe767=)
c.2294T= (p.Phe765=)
c.2291T= (p.Phe764=)
c.2351T= (p.Phe784=)
c.2342T= (p.Phe781=)
c.2261T= (p.Phe754=)
c.2210T= (p.Phe737=)
14g.33800500C>ACA389414177NPAS3c.2193C>A (p.Phe731Leu)
c.2202C>A (p.Phe734Leu)
c.2093C>A
c.793+2919C>A
c.2097C>A (p.Phe699Leu)
c.2154C>A (p.Phe718Leu)
c.2103C>A (p.Phe701Leu)
c.2208C>A (p.Phe736Leu)
c.2115C>A (p.Phe705Leu)
c.2214C>A (p.Phe738Leu)
c.2244C>A (p.Phe748Leu)
c.2235C>A (p.Phe745Leu)
c.2205C>A (p.Phe735Leu)
c.2148C>A (p.Phe716Leu)
c.2094C>A (p.Phe698Leu)
c.1887C>A (p.Phe629Leu)
c.2301C>A (p.Phe767Leu)
c.2295C>A (p.Phe765Leu)
c.2292C>A (p.Phe764Leu)
c.2352C>A (p.Phe784Leu)
c.2343C>A (p.Phe781Leu)
c.2262C>A (p.Phe754Leu)
c.2211C>A (p.Phe737Leu)
 gnomAD v4
14g.33800500C=CA2128327627NPAS3c.2193C= (p.Phe731=)
c.2202C= (p.Phe734=)
c.2093C=
c.793+2919C=
c.2097C= (p.Phe699=)
c.2154C= (p.Phe718=)
c.2103C= (p.Phe701=)
c.2208C= (p.Phe736=)
c.2115C= (p.Phe705=)
c.2214C= (p.Phe738=)
c.2244C= (p.Phe748=)
c.2235C= (p.Phe745=)
c.2205C= (p.Phe735=)
c.2148C= (p.Phe716=)
c.2094C= (p.Phe698=)
c.1887C= (p.Phe629=)
c.2301C= (p.Phe767=)
c.2295C= (p.Phe765=)
c.2292C= (p.Phe764=)
c.2352C= (p.Phe784=)
c.2343C= (p.Phe781=)
c.2262C= (p.Phe754=)
c.2211C= (p.Phe737=)
14g.33800500C>GCA389414178NPAS3c.2193C>G (p.Phe731Leu)
c.2202C>G (p.Phe734Leu)
c.2093C>G
c.793+2919C>G
c.2097C>G (p.Phe699Leu)
c.2154C>G (p.Phe718Leu)
c.2103C>G (p.Phe701Leu)
c.2208C>G (p.Phe736Leu)
c.2115C>G (p.Phe705Leu)
c.2214C>G (p.Phe738Leu)
c.2244C>G (p.Phe748Leu)
c.2235C>G (p.Phe745Leu)
c.2205C>G (p.Phe735Leu)
c.2148C>G (p.Phe716Leu)
c.2094C>G (p.Phe698Leu)
c.1887C>G (p.Phe629Leu)
c.2301C>G (p.Phe767Leu)
c.2295C>G (p.Phe765Leu)
c.2292C>G (p.Phe764Leu)
c.2352C>G (p.Phe784Leu)
c.2343C>G (p.Phe781Leu)
c.2262C>G (p.Phe754Leu)
c.2211C>G (p.Phe737Leu)
14g.33800500C>TCA486093264NPAS3c.2193C>T (p.Phe731=)
c.2202C>T (p.Phe734=)
c.2093C>T
c.793+2919C>T
c.2097C>T (p.Phe699=)
c.2154C>T (p.Phe718=)
c.2103C>T (p.Phe701=)
c.2208C>T (p.Phe736=)
c.2115C>T (p.Phe705=)
c.2214C>T (p.Phe738=)
c.2244C>T (p.Phe748=)
c.2235C>T (p.Phe745=)
c.2205C>T (p.Phe735=)
c.2148C>T (p.Phe716=)
c.2094C>T (p.Phe698=)
c.1887C>T (p.Phe629=)
c.2301C>T (p.Phe767=)
c.2295C>T (p.Phe765=)
c.2292C>T (p.Phe764=)
c.2352C>T (p.Phe784=)
c.2343C>T (p.Phe781=)
c.2262C>T (p.Phe754=)
c.2211C>T (p.Phe737=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800501G>ACA258719208NPAS3c.2194G>A (p.Gly732Ser)
c.2203G>A (p.Gly735Ser)
c.2094G>A
c.793+2920G>A
c.2098G>A (p.Gly700Ser)
c.2155G>A (p.Gly719Ser)
c.2104G>A (p.Gly702Ser)
c.2209G>A (p.Gly737Ser)
c.2116G>A (p.Gly706Ser)
c.2215G>A (p.Gly739Ser)
c.2245G>A (p.Gly749Ser)
c.2236G>A (p.Gly746Ser)
c.2206G>A (p.Gly736Ser)
c.2149G>A (p.Gly717Ser)
c.2095G>A (p.Gly699Ser)
c.1888G>A (p.Gly630Ser)
c.2302G>A (p.Gly768Ser)
c.2296G>A (p.Gly766Ser)
c.2293G>A (p.Gly765Ser)
c.2353G>A (p.Gly785Ser)
c.2344G>A (p.Gly782Ser)
c.2263G>A (p.Gly755Ser)
c.2212G>A (p.Gly738Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800501G>CCA389414179NPAS3c.2194G>C (p.Gly732Arg)
c.2203G>C (p.Gly735Arg)
c.2094G>C
c.793+2920G>C
c.2098G>C (p.Gly700Arg)
c.2155G>C (p.Gly719Arg)
c.2104G>C (p.Gly702Arg)
c.2209G>C (p.Gly737Arg)
c.2116G>C (p.Gly706Arg)
c.2215G>C (p.Gly739Arg)
c.2245G>C (p.Gly749Arg)
c.2236G>C (p.Gly746Arg)
c.2206G>C (p.Gly736Arg)
c.2149G>C (p.Gly717Arg)
c.2095G>C (p.Gly699Arg)
c.1888G>C (p.Gly630Arg)
c.2302G>C (p.Gly768Arg)
c.2296G>C (p.Gly766Arg)
c.2293G>C (p.Gly765Arg)
c.2353G>C (p.Gly785Arg)
c.2344G>C (p.Gly782Arg)
c.2263G>C (p.Gly755Arg)
c.2212G>C (p.Gly738Arg)
14g.33800501G=CA2128327629NPAS3c.2194G= (p.Gly732=)
c.2203G= (p.Gly735=)
c.2094G=
c.793+2920G=
c.2098G= (p.Gly700=)
c.2155G= (p.Gly719=)
c.2104G= (p.Gly702=)
c.2209G= (p.Gly737=)
c.2116G= (p.Gly706=)
c.2215G= (p.Gly739=)
c.2245G= (p.Gly749=)
c.2236G= (p.Gly746=)
c.2206G= (p.Gly736=)
c.2149G= (p.Gly717=)
c.2095G= (p.Gly699=)
c.1888G= (p.Gly630=)
c.2302G= (p.Gly768=)
c.2296G= (p.Gly766=)
c.2293G= (p.Gly765=)
c.2353G= (p.Gly785=)
c.2344G= (p.Gly782=)
c.2263G= (p.Gly755=)
c.2212G= (p.Gly738=)
14g.33800501G>TCA389414180NPAS3c.2194G>T (p.Gly732Cys)
c.2203G>T (p.Gly735Cys)
c.2094G>T
c.793+2920G>T
c.2098G>T (p.Gly700Cys)
c.2155G>T (p.Gly719Cys)
c.2104G>T (p.Gly702Cys)
c.2209G>T (p.Gly737Cys)
c.2116G>T (p.Gly706Cys)
c.2215G>T (p.Gly739Cys)
c.2245G>T (p.Gly749Cys)
c.2236G>T (p.Gly746Cys)
c.2206G>T (p.Gly736Cys)
c.2149G>T (p.Gly717Cys)
c.2095G>T (p.Gly699Cys)
c.1888G>T (p.Gly630Cys)
c.2302G>T (p.Gly768Cys)
c.2296G>T (p.Gly766Cys)
c.2293G>T (p.Gly765Cys)
c.2353G>T (p.Gly785Cys)
c.2344G>T (p.Gly782Cys)
c.2263G>T (p.Gly755Cys)
c.2212G>T (p.Gly738Cys)
14g.33800502G>ACA389414181NPAS3c.2195G>A (p.Gly732Asp)
c.2204G>A (p.Gly735Asp)
c.2095G>A
c.793+2921G>A
c.2099G>A (p.Gly700Asp)
c.2156G>A (p.Gly719Asp)
c.2105G>A (p.Gly702Asp)
c.2210G>A (p.Gly737Asp)
c.2117G>A (p.Gly706Asp)
c.2216G>A (p.Gly739Asp)
c.2246G>A (p.Gly749Asp)
c.2237G>A (p.Gly746Asp)
c.2207G>A (p.Gly736Asp)
c.2150G>A (p.Gly717Asp)
c.2096G>A (p.Gly699Asp)
c.1889G>A (p.Gly630Asp)
c.2303G>A (p.Gly768Asp)
c.2297G>A (p.Gly766Asp)
c.2294G>A (p.Gly765Asp)
c.2354G>A (p.Gly785Asp)
c.2345G>A (p.Gly782Asp)
c.2264G>A (p.Gly755Asp)
c.2213G>A (p.Gly738Asp)
 gnomAD v4
14g.33800502G>CCA258719210NPAS3c.2195G>C (p.Gly732Ala)
c.2204G>C (p.Gly735Ala)
c.2095G>C
c.793+2921G>C
c.2099G>C (p.Gly700Ala)
c.2156G>C (p.Gly719Ala)
c.2105G>C (p.Gly702Ala)
c.2210G>C (p.Gly737Ala)
c.2117G>C (p.Gly706Ala)
c.2216G>C (p.Gly739Ala)
c.2246G>C (p.Gly749Ala)
c.2237G>C (p.Gly746Ala)
c.2207G>C (p.Gly736Ala)
c.2150G>C (p.Gly717Ala)
c.2096G>C (p.Gly699Ala)
c.1889G>C (p.Gly630Ala)
c.2303G>C (p.Gly768Ala)
c.2297G>C (p.Gly766Ala)
c.2294G>C (p.Gly765Ala)
c.2354G>C (p.Gly785Ala)
c.2345G>C (p.Gly782Ala)
c.2264G>C (p.Gly755Ala)
c.2213G>C (p.Gly738Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800502G=CA2128327632NPAS3c.2195G= (p.Gly732=)
c.2204G= (p.Gly735=)
c.2095G=
c.793+2921G=
c.2099G= (p.Gly700=)
c.2156G= (p.Gly719=)
c.2105G= (p.Gly702=)
c.2210G= (p.Gly737=)
c.2117G= (p.Gly706=)
c.2216G= (p.Gly739=)
c.2246G= (p.Gly749=)
c.2237G= (p.Gly746=)
c.2207G= (p.Gly736=)
c.2150G= (p.Gly717=)
c.2096G= (p.Gly699=)
c.1889G= (p.Gly630=)
c.2303G= (p.Gly768=)
c.2297G= (p.Gly766=)
c.2294G= (p.Gly765=)
c.2354G= (p.Gly785=)
c.2345G= (p.Gly782=)
c.2264G= (p.Gly755=)
c.2213G= (p.Gly738=)
14g.33800502G>TCA389414182NPAS3c.2195G>T (p.Gly732Val)
c.2204G>T (p.Gly735Val)
c.2095G>T
c.793+2921G>T
c.2099G>T (p.Gly700Val)
c.2156G>T (p.Gly719Val)
c.2105G>T (p.Gly702Val)
c.2210G>T (p.Gly737Val)
c.2117G>T (p.Gly706Val)
c.2216G>T (p.Gly739Val)
c.2246G>T (p.Gly749Val)
c.2237G>T (p.Gly746Val)
c.2207G>T (p.Gly736Val)
c.2150G>T (p.Gly717Val)
c.2096G>T (p.Gly699Val)
c.1889G>T (p.Gly630Val)
c.2303G>T (p.Gly768Val)
c.2297G>T (p.Gly766Val)
c.2294G>T (p.Gly765Val)
c.2354G>T (p.Gly785Val)
c.2345G>T (p.Gly782Val)
c.2264G>T (p.Gly755Val)
c.2213G>T (p.Gly738Val)
 gnomAD v4
14g.33800503C>ACA486093268NPAS3c.2196C>A (p.Gly732=)
c.2205C>A (p.Gly735=)
c.2096C>A
c.793+2922C>A
c.2100C>A (p.Gly700=)
c.2157C>A (p.Gly719=)
c.2106C>A (p.Gly702=)
c.2211C>A (p.Gly737=)
c.2118C>A (p.Gly706=)
c.2217C>A (p.Gly739=)
c.2247C>A (p.Gly749=)
c.2238C>A (p.Gly746=)
c.2208C>A (p.Gly736=)
c.2151C>A (p.Gly717=)
c.2097C>A (p.Gly699=)
c.1890C>A (p.Gly630=)
c.2304C>A (p.Gly768=)
c.2298C>A (p.Gly766=)
c.2295C>A (p.Gly765=)
c.2355C>A (p.Gly785=)
c.2346C>A (p.Gly782=)
c.2265C>A (p.Gly755=)
c.2214C>A (p.Gly738=)
 gnomAD v4
14g.33800503C>GCA486093269NPAS3c.2196C>G (p.Gly732=)
c.2205C>G (p.Gly735=)
c.2096C>G
c.793+2922C>G
c.2100C>G (p.Gly700=)
c.2157C>G (p.Gly719=)
c.2106C>G (p.Gly702=)
c.2211C>G (p.Gly737=)
c.2118C>G (p.Gly706=)
c.2217C>G (p.Gly739=)
c.2247C>G (p.Gly749=)
c.2238C>G (p.Gly746=)
c.2208C>G (p.Gly736=)
c.2151C>G (p.Gly717=)
c.2097C>G (p.Gly699=)
c.1890C>G (p.Gly630=)
c.2304C>G (p.Gly768=)
c.2298C>G (p.Gly766=)
c.2295C>G (p.Gly765=)
c.2355C>G (p.Gly785=)
c.2346C>G (p.Gly782=)
c.2265C>G (p.Gly755=)
c.2214C>G (p.Gly738=)
14g.33800503C>TCA486093270NPAS3c.2196C>T (p.Gly732=)
c.2205C>T (p.Gly735=)
c.2096C>T
c.793+2922C>T
c.2100C>T (p.Gly700=)
c.2157C>T (p.Gly719=)
c.2106C>T (p.Gly702=)
c.2211C>T (p.Gly737=)
c.2118C>T (p.Gly706=)
c.2217C>T (p.Gly739=)
c.2247C>T (p.Gly749=)
c.2238C>T (p.Gly746=)
c.2208C>T (p.Gly736=)
c.2151C>T (p.Gly717=)
c.2097C>T (p.Gly699=)
c.1890C>T (p.Gly630=)
c.2304C>T (p.Gly768=)
c.2298C>T (p.Gly766=)
c.2295C>T (p.Gly765=)
c.2355C>T (p.Gly785=)
c.2346C>T (p.Gly782=)
c.2265C>T (p.Gly755=)
c.2214C>T (p.Gly738=)
 gnomAD v4
14g.33800504G>ACA389414185NPAS3c.2197G>A (p.Ala733Thr)
c.2206G>A (p.Ala736Thr)
c.2097G>A
c.793+2923G>A
c.2101G>A (p.Ala701Thr)
c.2158G>A (p.Ala720Thr)
c.2107G>A (p.Ala703Thr)
c.2212G>A (p.Ala738Thr)
c.2119G>A (p.Ala707Thr)
c.2218G>A (p.Ala740Thr)
c.2248G>A (p.Ala750Thr)
c.2239G>A (p.Ala747Thr)
c.2209G>A (p.Ala737Thr)
c.2152G>A (p.Ala718Thr)
c.2098G>A (p.Ala700Thr)
c.1891G>A (p.Ala631Thr)
c.2305G>A (p.Ala769Thr)
c.2299G>A (p.Ala767Thr)
c.2296G>A (p.Ala766Thr)
c.2356G>A (p.Ala786Thr)
c.2347G>A (p.Ala783Thr)
c.2266G>A (p.Ala756Thr)
c.2215G>A (p.Ala739Thr)
 dbSNP gnomAD v3 gnomAD v4
14g.33800504G>CCA389414184NPAS3c.2197G>C (p.Ala733Pro)
c.2206G>C (p.Ala736Pro)
c.2097G>C
c.793+2923G>C
c.2101G>C (p.Ala701Pro)
c.2158G>C (p.Ala720Pro)
c.2107G>C (p.Ala703Pro)
c.2212G>C (p.Ala738Pro)
c.2119G>C (p.Ala707Pro)
c.2218G>C (p.Ala740Pro)
c.2248G>C (p.Ala750Pro)
c.2239G>C (p.Ala747Pro)
c.2209G>C (p.Ala737Pro)
c.2152G>C (p.Ala718Pro)
c.2098G>C (p.Ala700Pro)
c.1891G>C (p.Ala631Pro)
c.2305G>C (p.Ala769Pro)
c.2299G>C (p.Ala767Pro)
c.2296G>C (p.Ala766Pro)
c.2356G>C (p.Ala786Pro)
c.2347G>C (p.Ala783Pro)
c.2266G>C (p.Ala756Pro)
c.2215G>C (p.Ala739Pro)
 gnomAD v4
14g.33800504G=CA2128327637NPAS3c.2197G= (p.Ala733=)
c.2206G= (p.Ala736=)
c.2097G=
c.793+2923G=
c.2101G= (p.Ala701=)
c.2158G= (p.Ala720=)
c.2107G= (p.Ala703=)
c.2212G= (p.Ala738=)
c.2119G= (p.Ala707=)
c.2218G= (p.Ala740=)
c.2248G= (p.Ala750=)
c.2239G= (p.Ala747=)
c.2209G= (p.Ala737=)
c.2152G= (p.Ala718=)
c.2098G= (p.Ala700=)
c.1891G= (p.Ala631=)
c.2305G= (p.Ala769=)
c.2299G= (p.Ala767=)
c.2296G= (p.Ala766=)
c.2356G= (p.Ala786=)
c.2347G= (p.Ala783=)
c.2266G= (p.Ala756=)
c.2215G= (p.Ala739=)
14g.33800504G>TCA389414183NPAS3c.2197G>T (p.Ala733Ser)
c.2206G>T (p.Ala736Ser)
c.2097G>T
c.793+2923G>T
c.2101G>T (p.Ala701Ser)
c.2158G>T (p.Ala720Ser)
c.2107G>T (p.Ala703Ser)
c.2212G>T (p.Ala738Ser)
c.2119G>T (p.Ala707Ser)
c.2218G>T (p.Ala740Ser)
c.2248G>T (p.Ala750Ser)
c.2239G>T (p.Ala747Ser)
c.2209G>T (p.Ala737Ser)
c.2152G>T (p.Ala718Ser)
c.2098G>T (p.Ala700Ser)
c.1891G>T (p.Ala631Ser)
c.2305G>T (p.Ala769Ser)
c.2299G>T (p.Ala767Ser)
c.2296G>T (p.Ala766Ser)
c.2356G>T (p.Ala786Ser)
c.2347G>T (p.Ala783Ser)
c.2266G>T (p.Ala756Ser)
c.2215G>T (p.Ala739Ser)
 gnomAD v4
14g.33800505C>ACA389414186NPAS3c.2198C>A (p.Ala733Asp)
c.2207C>A (p.Ala736Asp)
c.2098C>A
c.793+2924C>A
c.2102C>A (p.Ala701Asp)
c.2159C>A (p.Ala720Asp)
c.2108C>A (p.Ala703Asp)
c.2213C>A (p.Ala738Asp)
c.2120C>A (p.Ala707Asp)
c.2219C>A (p.Ala740Asp)
c.2249C>A (p.Ala750Asp)
c.2240C>A (p.Ala747Asp)
c.2210C>A (p.Ala737Asp)
c.2153C>A (p.Ala718Asp)
c.2099C>A (p.Ala700Asp)
c.1892C>A (p.Ala631Asp)
c.2306C>A (p.Ala769Asp)
c.2300C>A (p.Ala767Asp)
c.2297C>A (p.Ala766Asp)
c.2357C>A (p.Ala786Asp)
c.2348C>A (p.Ala783Asp)
c.2267C>A (p.Ala756Asp)
c.2216C>A (p.Ala739Asp)
 dbSNP gnomAD v4
14g.33800505C=CA2128327639NPAS3c.2198C= (p.Ala733=)
c.2207C= (p.Ala736=)
c.2098C=
c.793+2924C=
c.2102C= (p.Ala701=)
c.2159C= (p.Ala720=)
c.2108C= (p.Ala703=)
c.2213C= (p.Ala738=)
c.2120C= (p.Ala707=)
c.2219C= (p.Ala740=)
c.2249C= (p.Ala750=)
c.2240C= (p.Ala747=)
c.2210C= (p.Ala737=)
c.2153C= (p.Ala718=)
c.2099C= (p.Ala700=)
c.1892C= (p.Ala631=)
c.2306C= (p.Ala769=)
c.2300C= (p.Ala767=)
c.2297C= (p.Ala766=)
c.2357C= (p.Ala786=)
c.2348C= (p.Ala783=)
c.2267C= (p.Ala756=)
c.2216C= (p.Ala739=)
14g.33800505C>GCA389414187NPAS3c.2198C>G (p.Ala733Gly)
c.2207C>G (p.Ala736Gly)
c.2098C>G
c.793+2924C>G
c.2102C>G (p.Ala701Gly)
c.2159C>G (p.Ala720Gly)
c.2108C>G (p.Ala703Gly)
c.2213C>G (p.Ala738Gly)
c.2120C>G (p.Ala707Gly)
c.2219C>G (p.Ala740Gly)
c.2249C>G (p.Ala750Gly)
c.2240C>G (p.Ala747Gly)
c.2210C>G (p.Ala737Gly)
c.2153C>G (p.Ala718Gly)
c.2099C>G (p.Ala700Gly)
c.1892C>G (p.Ala631Gly)
c.2306C>G (p.Ala769Gly)
c.2300C>G (p.Ala767Gly)
c.2297C>G (p.Ala766Gly)
c.2357C>G (p.Ala786Gly)
c.2348C>G (p.Ala783Gly)
c.2267C>G (p.Ala756Gly)
c.2216C>G (p.Ala739Gly)
14g.33800505C>TCA258719218NPAS3c.2198C>T (p.Ala733Val)
c.2207C>T (p.Ala736Val)
c.2098C>T
c.793+2924C>T
c.2102C>T (p.Ala701Val)
c.2159C>T (p.Ala720Val)
c.2108C>T (p.Ala703Val)
c.2213C>T (p.Ala738Val)
c.2120C>T (p.Ala707Val)
c.2219C>T (p.Ala740Val)
c.2249C>T (p.Ala750Val)
c.2240C>T (p.Ala747Val)
c.2210C>T (p.Ala737Val)
c.2153C>T (p.Ala718Val)
c.2099C>T (p.Ala700Val)
c.1892C>T (p.Ala631Val)
c.2306C>T (p.Ala769Val)
c.2300C>T (p.Ala767Val)
c.2297C>T (p.Ala766Val)
c.2357C>T (p.Ala786Val)
c.2348C>T (p.Ala783Val)
c.2267C>T (p.Ala756Val)
c.2216C>T (p.Ala739Val)
 dbSNP gnomAD v4
14g.33800506C>ACA486093272NPAS3c.2199C>A (p.Ala733=)
c.2208C>A (p.Ala736=)
c.2099C>A
c.793+2925C>A
c.2103C>A (p.Ala701=)
c.2160C>A (p.Ala720=)
c.2109C>A (p.Ala703=)
c.2214C>A (p.Ala738=)
c.2121C>A (p.Ala707=)
c.2220C>A (p.Ala740=)
c.2250C>A (p.Ala750=)
c.2241C>A (p.Ala747=)
c.2211C>A (p.Ala737=)
c.2154C>A (p.Ala718=)
c.2100C>A (p.Ala700=)
c.1893C>A (p.Ala631=)
c.2307C>A (p.Ala769=)
c.2301C>A (p.Ala767=)
c.2298C>A (p.Ala766=)
c.2358C>A (p.Ala786=)
c.2349C>A (p.Ala783=)
c.2268C>A (p.Ala756=)
c.2217C>A (p.Ala739=)
 gnomAD v4
14g.33800506C=CA2128327641NPAS3c.2199C= (p.Ala733=)
c.2208C= (p.Ala736=)
c.2099C=
c.793+2925C=
c.2103C= (p.Ala701=)
c.2160C= (p.Ala720=)
c.2109C= (p.Ala703=)
c.2214C= (p.Ala738=)
c.2121C= (p.Ala707=)
c.2220C= (p.Ala740=)
c.2250C= (p.Ala750=)
c.2241C= (p.Ala747=)
c.2211C= (p.Ala737=)
c.2154C= (p.Ala718=)
c.2100C= (p.Ala700=)
c.1893C= (p.Ala631=)
c.2307C= (p.Ala769=)
c.2301C= (p.Ala767=)
c.2298C= (p.Ala766=)
c.2358C= (p.Ala786=)
c.2349C= (p.Ala783=)
c.2268C= (p.Ala756=)
c.2217C= (p.Ala739=)
14g.33800506C>GCA486093275NPAS3c.2199C>G (p.Ala733=)
c.2208C>G (p.Ala736=)
c.2099C>G
c.793+2925C>G
c.2103C>G (p.Ala701=)
c.2160C>G (p.Ala720=)
c.2109C>G (p.Ala703=)
c.2214C>G (p.Ala738=)
c.2121C>G (p.Ala707=)
c.2220C>G (p.Ala740=)
c.2250C>G (p.Ala750=)
c.2241C>G (p.Ala747=)
c.2211C>G (p.Ala737=)
c.2154C>G (p.Ala718=)
c.2100C>G (p.Ala700=)
c.1893C>G (p.Ala631=)
c.2307C>G (p.Ala769=)
c.2301C>G (p.Ala767=)
c.2298C>G (p.Ala766=)
c.2358C>G (p.Ala786=)
c.2349C>G (p.Ala783=)
c.2268C>G (p.Ala756=)
c.2217C>G (p.Ala739=)
 gnomAD v4
14g.33800506C>TCA486093276NPAS3c.2199C>T (p.Ala733=)
c.2208C>T (p.Ala736=)
c.2099C>T
c.793+2925C>T
c.2103C>T (p.Ala701=)
c.2160C>T (p.Ala720=)
c.2109C>T (p.Ala703=)
c.2214C>T (p.Ala738=)
c.2121C>T (p.Ala707=)
c.2220C>T (p.Ala740=)
c.2250C>T (p.Ala750=)
c.2241C>T (p.Ala747=)
c.2211C>T (p.Ala737=)
c.2154C>T (p.Ala718=)
c.2100C>T (p.Ala700=)
c.1893C>T (p.Ala631=)
c.2307C>T (p.Ala769=)
c.2301C>T (p.Ala767=)
c.2298C>T (p.Ala766=)
c.2358C>T (p.Ala786=)
c.2349C>T (p.Ala783=)
c.2268C>T (p.Ala756=)
c.2217C>T (p.Ala739=)
 dbSNP gnomAD v4
14g.33800507T>ACA389414188NPAS3c.2200T>A (p.Ser734Thr)
c.2209T>A (p.Ser737Thr)
c.2100T>A
c.793+2926T>A
c.2104T>A (p.Ser702Thr)
c.2161T>A (p.Ser721Thr)
c.2110T>A (p.Ser704Thr)
c.2215T>A (p.Ser739Thr)
c.2122T>A (p.Ser708Thr)
c.2221T>A (p.Ser741Thr)
c.2251T>A (p.Ser751Thr)
c.2242T>A (p.Ser748Thr)
c.2212T>A (p.Ser738Thr)
c.2155T>A (p.Ser719Thr)
c.2101T>A (p.Ser701Thr)
c.1894T>A (p.Ser632Thr)
c.2308T>A (p.Ser770Thr)
c.2302T>A (p.Ser768Thr)
c.2299T>A (p.Ser767Thr)
c.2359T>A (p.Ser787Thr)
c.2350T>A (p.Ser784Thr)
c.2269T>A (p.Ser757Thr)
c.2218T>A (p.Ser740Thr)
 COSMIC COSMIC COSMIC
14g.33800507T>CCA389414189NPAS3c.2200T>C (p.Ser734Pro)
c.2209T>C (p.Ser737Pro)
c.2100T>C
c.793+2926T>C
c.2104T>C (p.Ser702Pro)
c.2161T>C (p.Ser721Pro)
c.2110T>C (p.Ser704Pro)
c.2215T>C (p.Ser739Pro)
c.2122T>C (p.Ser708Pro)
c.2221T>C (p.Ser741Pro)
c.2251T>C (p.Ser751Pro)
c.2242T>C (p.Ser748Pro)
c.2212T>C (p.Ser738Pro)
c.2155T>C (p.Ser719Pro)
c.2101T>C (p.Ser701Pro)
c.1894T>C (p.Ser632Pro)
c.2308T>C (p.Ser770Pro)
c.2302T>C (p.Ser768Pro)
c.2299T>C (p.Ser767Pro)
c.2359T>C (p.Ser787Pro)
c.2350T>C (p.Ser784Pro)
c.2269T>C (p.Ser757Pro)
c.2218T>C (p.Ser740Pro)
 gnomAD v4
14g.33800507T>GCA389414190NPAS3c.2200T>G (p.Ser734Ala)
c.2209T>G (p.Ser737Ala)
c.2100T>G
c.793+2926T>G
c.2104T>G (p.Ser702Ala)
c.2161T>G (p.Ser721Ala)
c.2110T>G (p.Ser704Ala)
c.2215T>G (p.Ser739Ala)
c.2122T>G (p.Ser708Ala)
c.2221T>G (p.Ser741Ala)
c.2251T>G (p.Ser751Ala)
c.2242T>G (p.Ser748Ala)
c.2212T>G (p.Ser738Ala)
c.2155T>G (p.Ser719Ala)
c.2101T>G (p.Ser701Ala)
c.1894T>G (p.Ser632Ala)
c.2308T>G (p.Ser770Ala)
c.2302T>G (p.Ser768Ala)
c.2299T>G (p.Ser767Ala)
c.2359T>G (p.Ser787Ala)
c.2350T>G (p.Ser784Ala)
c.2269T>G (p.Ser757Ala)
c.2218T>G (p.Ser740Ala)
14g.33800508C>ACA389414193NPAS3c.2201C>A (p.Ser734Ter)
c.2210C>A (p.Ser737Ter)
c.2101C>A
c.793+2927C>A
c.2105C>A (p.Ser702Ter)
c.2162C>A (p.Ser721Ter)
c.2111C>A (p.Ser704Ter)
c.2216C>A (p.Ser739Ter)
c.2123C>A (p.Ser708Ter)
c.2222C>A (p.Ser741Ter)
c.2252C>A (p.Ser751Ter)
c.2243C>A (p.Ser748Ter)
c.2213C>A (p.Ser738Ter)
c.2156C>A (p.Ser719Ter)
c.2102C>A (p.Ser701Ter)
c.1895C>A (p.Ser632Ter)
c.2309C>A (p.Ser770Ter)
c.2303C>A (p.Ser768Ter)
c.2300C>A (p.Ser767Ter)
c.2360C>A (p.Ser787Ter)
c.2351C>A (p.Ser784Ter)
c.2270C>A (p.Ser757Ter)
c.2219C>A (p.Ser740Ter)
 gnomAD v4
14g.33800508C=CA2128327643NPAS3c.2201C= (p.Ser734=)
c.2210C= (p.Ser737=)
c.2101C=
c.793+2927C=
c.2105C= (p.Ser702=)
c.2162C= (p.Ser721=)
c.2111C= (p.Ser704=)
c.2216C= (p.Ser739=)
c.2123C= (p.Ser708=)
c.2222C= (p.Ser741=)
c.2252C= (p.Ser751=)
c.2243C= (p.Ser748=)
c.2213C= (p.Ser738=)
c.2156C= (p.Ser719=)
c.2102C= (p.Ser701=)
c.1895C= (p.Ser632=)
c.2309C= (p.Ser770=)
c.2303C= (p.Ser768=)
c.2300C= (p.Ser767=)
c.2360C= (p.Ser787=)
c.2351C= (p.Ser784=)
c.2270C= (p.Ser757=)
c.2219C= (p.Ser740=)
14g.33800508C>GCA389414192NPAS3c.2201C>G (p.Ser734Trp)
c.2210C>G (p.Ser737Trp)
c.2101C>G
c.793+2927C>G
c.2105C>G (p.Ser702Trp)
c.2162C>G (p.Ser721Trp)
c.2111C>G (p.Ser704Trp)
c.2216C>G (p.Ser739Trp)
c.2123C>G (p.Ser708Trp)
c.2222C>G (p.Ser741Trp)
c.2252C>G (p.Ser751Trp)
c.2243C>G (p.Ser748Trp)
c.2213C>G (p.Ser738Trp)
c.2156C>G (p.Ser719Trp)
c.2102C>G (p.Ser701Trp)
c.1895C>G (p.Ser632Trp)
c.2309C>G (p.Ser770Trp)
c.2303C>G (p.Ser768Trp)
c.2300C>G (p.Ser767Trp)
c.2360C>G (p.Ser787Trp)
c.2351C>G (p.Ser784Trp)
c.2270C>G (p.Ser757Trp)
c.2219C>G (p.Ser740Trp)
 gnomAD v4
14g.33800508C>TCA389414191NPAS3c.2201C>T (p.Ser734Leu)
c.2210C>T (p.Ser737Leu)
c.2101C>T
c.793+2927C>T
c.2105C>T (p.Ser702Leu)
c.2162C>T (p.Ser721Leu)
c.2111C>T (p.Ser704Leu)
c.2216C>T (p.Ser739Leu)
c.2123C>T (p.Ser708Leu)
c.2222C>T (p.Ser741Leu)
c.2252C>T (p.Ser751Leu)
c.2243C>T (p.Ser748Leu)
c.2213C>T (p.Ser738Leu)
c.2156C>T (p.Ser719Leu)
c.2102C>T (p.Ser701Leu)
c.1895C>T (p.Ser632Leu)
c.2309C>T (p.Ser770Leu)
c.2303C>T (p.Ser768Leu)
c.2300C>T (p.Ser767Leu)
c.2360C>T (p.Ser787Leu)
c.2351C>T (p.Ser784Leu)
c.2270C>T (p.Ser757Leu)
c.2219C>T (p.Ser740Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800513_33800521delCA2575504026NPAS3c.2206_2214del (p.Thr736_Ala738del)
c.2215_2223del (p.Thr739_Ala741del)
c.2106_2114del
c.793+2932_793+2940del
c.2110_2118del (p.Thr704_Ala706del)
c.2167_2175del (p.Thr723_Ala725del)
c.2116_2124del (p.Thr706_Ala708del)
c.2221_2229del (p.Thr741_Ala743del)
c.2128_2136del (p.Thr710_Ala712del)
c.2227_2235del (p.Thr743_Ala745del)
c.2257_2265del (p.Thr753_Ala755del)
c.2248_2256del (p.Thr750_Ala752del)
c.2218_2226del (p.Thr740_Ala742del)
c.2161_2169del (p.Thr721_Ala723del)
c.2107_2115del (p.Thr703_Ala705del)
c.1900_1908del (p.Thr634_Ala636del)
c.2314_2322del (p.Thr772_Ala774del)
c.2308_2316del (p.Thr770_Ala772del)
c.2305_2313del (p.Thr769_Ala771del)
c.2365_2373del (p.Thr789_Ala791del)
c.2356_2364del (p.Thr786_Ala788del)
c.2275_2283del (p.Thr759_Ala761del)
c.2224_2232del (p.Thr742_Ala744del)
 gnomAD v4
14g.33800509G>ACA486093281NPAS3c.2202G>A (p.Ser734=)
c.2211G>A (p.Ser737=)
c.2102G>A
c.793+2928G>A
c.2106G>A (p.Ser702=)
c.2163G>A (p.Ser721=)
c.2112G>A (p.Ser704=)
c.2217G>A (p.Ser739=)
c.2124G>A (p.Ser708=)
c.2223G>A (p.Ser741=)
c.2253G>A (p.Ser751=)
c.2244G>A (p.Ser748=)
c.2214G>A (p.Ser738=)
c.2157G>A (p.Ser719=)
c.2103G>A (p.Ser701=)
c.1896G>A (p.Ser632=)
c.2310G>A (p.Ser770=)
c.2304G>A (p.Ser768=)
c.2301G>A (p.Ser767=)
c.2361G>A (p.Ser787=)
c.2352G>A (p.Ser784=)
c.2271G>A (p.Ser757=)
c.2220G>A (p.Ser740=)
 dbSNP gnomAD v3 gnomAD v4
14g.33800509G>CCA486093283NPAS3c.2202G>C (p.Ser734=)
c.2211G>C (p.Ser737=)
c.2102G>C
c.793+2928G>C
c.2106G>C (p.Ser702=)
c.2163G>C (p.Ser721=)
c.2112G>C (p.Ser704=)
c.2217G>C (p.Ser739=)
c.2124G>C (p.Ser708=)
c.2223G>C (p.Ser741=)
c.2253G>C (p.Ser751=)
c.2244G>C (p.Ser748=)
c.2214G>C (p.Ser738=)
c.2157G>C (p.Ser719=)
c.2103G>C (p.Ser701=)
c.1896G>C (p.Ser632=)
c.2310G>C (p.Ser770=)
c.2304G>C (p.Ser768=)
c.2301G>C (p.Ser767=)
c.2361G>C (p.Ser787=)
c.2352G>C (p.Ser784=)
c.2271G>C (p.Ser757=)
c.2220G>C (p.Ser740=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800509G=CA2128327646NPAS3c.2202G= (p.Ser734=)
c.2211G= (p.Ser737=)
c.2102G=
c.793+2928G=
c.2106G= (p.Ser702=)
c.2163G= (p.Ser721=)
c.2112G= (p.Ser704=)
c.2217G= (p.Ser739=)
c.2124G= (p.Ser708=)
c.2223G= (p.Ser741=)
c.2253G= (p.Ser751=)
c.2244G= (p.Ser748=)
c.2214G= (p.Ser738=)
c.2157G= (p.Ser719=)
c.2103G= (p.Ser701=)
c.1896G= (p.Ser632=)
c.2310G= (p.Ser770=)
c.2304G= (p.Ser768=)
c.2301G= (p.Ser767=)
c.2361G= (p.Ser787=)
c.2352G= (p.Ser784=)
c.2271G= (p.Ser757=)
c.2220G= (p.Ser740=)
14g.33800509G>TCA486093284NPAS3c.2202G>T (p.Ser734=)
c.2211G>T (p.Ser737=)
c.2102G>T
c.793+2928G>T
c.2106G>T (p.Ser702=)
c.2163G>T (p.Ser721=)
c.2112G>T (p.Ser704=)
c.2217G>T (p.Ser739=)
c.2124G>T (p.Ser708=)
c.2223G>T (p.Ser741=)
c.2253G>T (p.Ser751=)
c.2244G>T (p.Ser748=)
c.2214G>T (p.Ser738=)
c.2157G>T (p.Ser719=)
c.2103G>T (p.Ser701=)
c.1896G>T (p.Ser632=)
c.2310G>T (p.Ser770=)
c.2304G>T (p.Ser768=)
c.2301G>T (p.Ser767=)
c.2361G>T (p.Ser787=)
c.2352G>T (p.Ser784=)
c.2271G>T (p.Ser757=)
c.2220G>T (p.Ser740=)
 gnomAD v4
14g.33800510delCA2624512040NPAS3c.2203del (p.Ala735ProfsTer?)
c.2212del (p.Ala738ProfsTer?)
c.2103del
c.793+2929del
c.2107del (p.Ala703ProfsTer?)
c.2164del (p.Ala722ProfsTer?)
c.2113del (p.Ala705ProfsTer?)
c.2218del (p.Ala740ProfsTer?)
c.2125del (p.Ala709ProfsTer?)
c.2224del (p.Ala742ProfsTer?)
c.2254del (p.Ala752ProfsTer?)
c.2245del (p.Ala749ProfsTer?)
c.2215del (p.Ala739ProfsTer?)
c.2158del (p.Ala720ProfsTer?)
c.2104del (p.Ala702ProfsTer?)
c.1897del (p.Ala633ProfsTer?)
c.2311del (p.Ala771ProfsTer?)
c.2305del (p.Ala769ProfsTer?)
c.2302del (p.Ala768ProfsTer?)
c.2362del (p.Ala788ProfsTer?)
c.2353del (p.Ala785ProfsTer?)
c.2272del (p.Ala758ProfsTer?)
c.2221del (p.Ala741ProfsTer?)
 gnomAD v4
14g.33800510G>ACA389414194NPAS3c.2203G>A (p.Ala735Thr)
c.2212G>A (p.Ala738Thr)
c.2103G>A
c.793+2929G>A
c.2107G>A (p.Ala703Thr)
c.2164G>A (p.Ala722Thr)
c.2113G>A (p.Ala705Thr)
c.2218G>A (p.Ala740Thr)
c.2125G>A (p.Ala709Thr)
c.2224G>A (p.Ala742Thr)
c.2254G>A (p.Ala752Thr)
c.2245G>A (p.Ala749Thr)
c.2215G>A (p.Ala739Thr)
c.2158G>A (p.Ala720Thr)
c.2104G>A (p.Ala702Thr)
c.1897G>A (p.Ala633Thr)
c.2311G>A (p.Ala771Thr)
c.2305G>A (p.Ala769Thr)
c.2302G>A (p.Ala768Thr)
c.2362G>A (p.Ala788Thr)
c.2353G>A (p.Ala785Thr)
c.2272G>A (p.Ala758Thr)
c.2221G>A (p.Ala741Thr)
 gnomAD v4
14g.33800510G>CCA389414195NPAS3c.2203G>C (p.Ala735Pro)
c.2212G>C (p.Ala738Pro)
c.2103G>C
c.793+2929G>C
c.2107G>C (p.Ala703Pro)
c.2164G>C (p.Ala722Pro)
c.2113G>C (p.Ala705Pro)
c.2218G>C (p.Ala740Pro)
c.2125G>C (p.Ala709Pro)
c.2224G>C (p.Ala742Pro)
c.2254G>C (p.Ala752Pro)
c.2245G>C (p.Ala749Pro)
c.2215G>C (p.Ala739Pro)
c.2158G>C (p.Ala720Pro)
c.2104G>C (p.Ala702Pro)
c.1897G>C (p.Ala633Pro)
c.2311G>C (p.Ala771Pro)
c.2305G>C (p.Ala769Pro)
c.2302G>C (p.Ala768Pro)
c.2362G>C (p.Ala788Pro)
c.2353G>C (p.Ala785Pro)
c.2272G>C (p.Ala758Pro)
c.2221G>C (p.Ala741Pro)
 gnomAD v4
14g.33800510G>TCA389414196NPAS3c.2203G>T (p.Ala735Ser)
c.2212G>T (p.Ala738Ser)
c.2103G>T
c.793+2929G>T
c.2107G>T (p.Ala703Ser)
c.2164G>T (p.Ala722Ser)
c.2113G>T (p.Ala705Ser)
c.2218G>T (p.Ala740Ser)
c.2125G>T (p.Ala709Ser)
c.2224G>T (p.Ala742Ser)
c.2254G>T (p.Ala752Ser)
c.2245G>T (p.Ala749Ser)
c.2215G>T (p.Ala739Ser)
c.2158G>T (p.Ala720Ser)
c.2104G>T (p.Ala702Ser)
c.1897G>T (p.Ala633Ser)
c.2311G>T (p.Ala771Ser)
c.2305G>T (p.Ala769Ser)
c.2302G>T (p.Ala768Ser)
c.2362G>T (p.Ala788Ser)
c.2353G>T (p.Ala785Ser)
c.2272G>T (p.Ala758Ser)
c.2221G>T (p.Ala741Ser)
 gnomAD v4
14g.33800511C>ACA389414197NPAS3c.2204C>A (p.Ala735Asp)
c.2213C>A (p.Ala738Asp)
c.2104C>A
c.793+2930C>A
c.2108C>A (p.Ala703Asp)
c.2165C>A (p.Ala722Asp)
c.2114C>A (p.Ala705Asp)
c.2219C>A (p.Ala740Asp)
c.2126C>A (p.Ala709Asp)
c.2225C>A (p.Ala742Asp)
c.2255C>A (p.Ala752Asp)
c.2246C>A (p.Ala749Asp)
c.2216C>A (p.Ala739Asp)
c.2159C>A (p.Ala720Asp)
c.2105C>A (p.Ala702Asp)
c.1898C>A (p.Ala633Asp)
c.2312C>A (p.Ala771Asp)
c.2306C>A (p.Ala769Asp)
c.2303C>A (p.Ala768Asp)
c.2363C>A (p.Ala788Asp)
c.2354C>A (p.Ala785Asp)
c.2273C>A (p.Ala758Asp)
c.2222C>A (p.Ala741Asp)
 gnomAD v4
14g.33800511C>GCA389414198NPAS3c.2204C>G (p.Ala735Gly)
c.2213C>G (p.Ala738Gly)
c.2104C>G
c.793+2930C>G
c.2108C>G (p.Ala703Gly)
c.2165C>G (p.Ala722Gly)
c.2114C>G (p.Ala705Gly)
c.2219C>G (p.Ala740Gly)
c.2126C>G (p.Ala709Gly)
c.2225C>G (p.Ala742Gly)
c.2255C>G (p.Ala752Gly)
c.2246C>G (p.Ala749Gly)
c.2216C>G (p.Ala739Gly)
c.2159C>G (p.Ala720Gly)
c.2105C>G (p.Ala702Gly)
c.1898C>G (p.Ala633Gly)
c.2312C>G (p.Ala771Gly)
c.2306C>G (p.Ala769Gly)
c.2303C>G (p.Ala768Gly)
c.2363C>G (p.Ala788Gly)
c.2354C>G (p.Ala785Gly)
c.2273C>G (p.Ala758Gly)
c.2222C>G (p.Ala741Gly)
 dbSNP gnomAD v3 gnomAD v4
14g.33800511C>TCA389414199NPAS3c.2204C>T (p.Ala735Val)
c.2213C>T (p.Ala738Val)
c.2104C>T
c.793+2930C>T
c.2108C>T (p.Ala703Val)
c.2165C>T (p.Ala722Val)
c.2114C>T (p.Ala705Val)
c.2219C>T (p.Ala740Val)
c.2126C>T (p.Ala709Val)
c.2225C>T (p.Ala742Val)
c.2255C>T (p.Ala752Val)
c.2246C>T (p.Ala749Val)
c.2216C>T (p.Ala739Val)
c.2159C>T (p.Ala720Val)
c.2105C>T (p.Ala702Val)
c.1898C>T (p.Ala633Val)
c.2312C>T (p.Ala771Val)
c.2306C>T (p.Ala769Val)
c.2303C>T (p.Ala768Val)
c.2363C>T (p.Ala788Val)
c.2354C>T (p.Ala785Val)
c.2273C>T (p.Ala758Val)
c.2222C>T (p.Ala741Val)
 gnomAD v4
14g.33800512C>ACA486093291NPAS3c.2205C>A (p.Ala735=)
c.2214C>A (p.Ala738=)
c.2105C>A
c.793+2931C>A
c.2109C>A (p.Ala703=)
c.2166C>A (p.Ala722=)
c.2115C>A (p.Ala705=)
c.2220C>A (p.Ala740=)
c.2127C>A (p.Ala709=)
c.2226C>A (p.Ala742=)
c.2256C>A (p.Ala752=)
c.2247C>A (p.Ala749=)
c.2217C>A (p.Ala739=)
c.2160C>A (p.Ala720=)
c.2106C>A (p.Ala702=)
c.1899C>A (p.Ala633=)
c.2313C>A (p.Ala771=)
c.2307C>A (p.Ala769=)
c.2304C>A (p.Ala768=)
c.2364C>A (p.Ala788=)
c.2355C>A (p.Ala785=)
c.2274C>A (p.Ala758=)
c.2223C>A (p.Ala741=)
 gnomAD v4
14g.33800512C>GCA486093288NPAS3c.2205C>G (p.Ala735=)
c.2214C>G (p.Ala738=)
c.2105C>G
c.793+2931C>G
c.2109C>G (p.Ala703=)
c.2166C>G (p.Ala722=)
c.2115C>G (p.Ala705=)
c.2220C>G (p.Ala740=)
c.2127C>G (p.Ala709=)
c.2226C>G (p.Ala742=)
c.2256C>G (p.Ala752=)
c.2247C>G (p.Ala749=)
c.2217C>G (p.Ala739=)
c.2160C>G (p.Ala720=)
c.2106C>G (p.Ala702=)
c.1899C>G (p.Ala633=)
c.2313C>G (p.Ala771=)
c.2307C>G (p.Ala769=)
c.2304C>G (p.Ala768=)
c.2364C>G (p.Ala788=)
c.2355C>G (p.Ala785=)
c.2274C>G (p.Ala758=)
c.2223C>G (p.Ala741=)
14g.33800512C>TCA486093286NPAS3c.2205C>T (p.Ala735=)
c.2214C>T (p.Ala738=)
c.2105C>T
c.793+2931C>T
c.2109C>T (p.Ala703=)
c.2166C>T (p.Ala722=)
c.2115C>T (p.Ala705=)
c.2220C>T (p.Ala740=)
c.2127C>T (p.Ala709=)
c.2226C>T (p.Ala742=)
c.2256C>T (p.Ala752=)
c.2247C>T (p.Ala749=)
c.2217C>T (p.Ala739=)
c.2160C>T (p.Ala720=)
c.2106C>T (p.Ala702=)
c.1899C>T (p.Ala633=)
c.2313C>T (p.Ala771=)
c.2307C>T (p.Ala769=)
c.2304C>T (p.Ala768=)
c.2364C>T (p.Ala788=)
c.2355C>T (p.Ala785=)
c.2274C>T (p.Ala758=)
c.2223C>T (p.Ala741=)
 gnomAD v4
14g.33800513A=CA2128327649NPAS3c.2206A= (p.Thr736=)
c.2215A= (p.Thr739=)
c.2106A=
c.793+2932A=
c.2110A= (p.Thr704=)
c.2167A= (p.Thr723=)
c.2116A= (p.Thr706=)
c.2221A= (p.Thr741=)
c.2128A= (p.Thr710=)
c.2227A= (p.Thr743=)
c.2257A= (p.Thr753=)
c.2248A= (p.Thr750=)
c.2218A= (p.Thr740=)
c.2161A= (p.Thr721=)
c.2107A= (p.Thr703=)
c.1900A= (p.Thr634=)
c.2314A= (p.Thr772=)
c.2308A= (p.Thr770=)
c.2305A= (p.Thr769=)
c.2365A= (p.Thr789=)
c.2356A= (p.Thr786=)
c.2275A= (p.Thr759=)
c.2224A= (p.Thr742=)
14g.33800513A>CCA389414202NPAS3c.2206A>C (p.Thr736Pro)
c.2215A>C (p.Thr739Pro)
c.2106A>C
c.793+2932A>C
c.2110A>C (p.Thr704Pro)
c.2167A>C (p.Thr723Pro)
c.2116A>C (p.Thr706Pro)
c.2221A>C (p.Thr741Pro)
c.2128A>C (p.Thr710Pro)
c.2227A>C (p.Thr743Pro)
c.2257A>C (p.Thr753Pro)
c.2248A>C (p.Thr750Pro)
c.2218A>C (p.Thr740Pro)
c.2161A>C (p.Thr721Pro)
c.2107A>C (p.Thr703Pro)
c.1900A>C (p.Thr634Pro)
c.2314A>C (p.Thr772Pro)
c.2308A>C (p.Thr770Pro)
c.2305A>C (p.Thr769Pro)
c.2365A>C (p.Thr789Pro)
c.2356A>C (p.Thr786Pro)
c.2275A>C (p.Thr759Pro)
c.2224A>C (p.Thr742Pro)
14g.33800513A>GCA389414200NPAS3c.2206A>G (p.Thr736Ala)
c.2215A>G (p.Thr739Ala)
c.2106A>G
c.793+2932A>G
c.2110A>G (p.Thr704Ala)
c.2167A>G (p.Thr723Ala)
c.2116A>G (p.Thr706Ala)
c.2221A>G (p.Thr741Ala)
c.2128A>G (p.Thr710Ala)
c.2227A>G (p.Thr743Ala)
c.2257A>G (p.Thr753Ala)
c.2248A>G (p.Thr750Ala)
c.2218A>G (p.Thr740Ala)
c.2161A>G (p.Thr721Ala)
c.2107A>G (p.Thr703Ala)
c.1900A>G (p.Thr634Ala)
c.2314A>G (p.Thr772Ala)
c.2308A>G (p.Thr770Ala)
c.2305A>G (p.Thr769Ala)
c.2365A>G (p.Thr789Ala)
c.2356A>G (p.Thr786Ala)
c.2275A>G (p.Thr759Ala)
c.2224A>G (p.Thr742Ala)
 dbSNP gnomAD v4
14g.33800513A>TCA389414201NPAS3c.2206A>T (p.Thr736Ser)
c.2215A>T (p.Thr739Ser)
c.2106A>T
c.793+2932A>T
c.2110A>T (p.Thr704Ser)
c.2167A>T (p.Thr723Ser)
c.2116A>T (p.Thr706Ser)
c.2221A>T (p.Thr741Ser)
c.2128A>T (p.Thr710Ser)
c.2227A>T (p.Thr743Ser)
c.2257A>T (p.Thr753Ser)
c.2248A>T (p.Thr750Ser)
c.2218A>T (p.Thr740Ser)
c.2161A>T (p.Thr721Ser)
c.2107A>T (p.Thr703Ser)
c.1900A>T (p.Thr634Ser)
c.2314A>T (p.Thr772Ser)
c.2308A>T (p.Thr770Ser)
c.2305A>T (p.Thr769Ser)
c.2365A>T (p.Thr789Ser)
c.2356A>T (p.Thr786Ser)
c.2275A>T (p.Thr759Ser)
c.2224A>T (p.Thr742Ser)
 gnomAD v4
14g.33800514C>ACA389414203NPAS3c.2207C>A (p.Thr736Asn)
c.2216C>A (p.Thr739Asn)
c.2107C>A
c.793+2933C>A
c.2111C>A (p.Thr704Asn)
c.2168C>A (p.Thr723Asn)
c.2117C>A (p.Thr706Asn)
c.2222C>A (p.Thr741Asn)
c.2129C>A (p.Thr710Asn)
c.2228C>A (p.Thr743Asn)
c.2258C>A (p.Thr753Asn)
c.2249C>A (p.Thr750Asn)
c.2219C>A (p.Thr740Asn)
c.2162C>A (p.Thr721Asn)
c.2108C>A (p.Thr703Asn)
c.1901C>A (p.Thr634Asn)
c.2315C>A (p.Thr772Asn)
c.2309C>A (p.Thr770Asn)
c.2306C>A (p.Thr769Asn)
c.2366C>A (p.Thr789Asn)
c.2357C>A (p.Thr786Asn)
c.2276C>A (p.Thr759Asn)
c.2225C>A (p.Thr742Asn)
 gnomAD v4
14g.33800514C=CA2128327655NPAS3c.2207C= (p.Thr736=)
c.2216C= (p.Thr739=)
c.2107C=
c.793+2933C=
c.2111C= (p.Thr704=)
c.2168C= (p.Thr723=)
c.2117C= (p.Thr706=)
c.2222C= (p.Thr741=)
c.2129C= (p.Thr710=)
c.2228C= (p.Thr743=)
c.2258C= (p.Thr753=)
c.2249C= (p.Thr750=)
c.2219C= (p.Thr740=)
c.2162C= (p.Thr721=)
c.2108C= (p.Thr703=)
c.1901C= (p.Thr634=)
c.2315C= (p.Thr772=)
c.2309C= (p.Thr770=)
c.2306C= (p.Thr769=)
c.2366C= (p.Thr789=)
c.2357C= (p.Thr786=)
c.2276C= (p.Thr759=)
c.2225C= (p.Thr742=)
14g.33800514C>GCA389414204NPAS3c.2207C>G (p.Thr736Ser)
c.2216C>G (p.Thr739Ser)
c.2107C>G
c.793+2933C>G
c.2111C>G (p.Thr704Ser)
c.2168C>G (p.Thr723Ser)
c.2117C>G (p.Thr706Ser)
c.2222C>G (p.Thr741Ser)
c.2129C>G (p.Thr710Ser)
c.2228C>G (p.Thr743Ser)
c.2258C>G (p.Thr753Ser)
c.2249C>G (p.Thr750Ser)
c.2219C>G (p.Thr740Ser)
c.2162C>G (p.Thr721Ser)
c.2108C>G (p.Thr703Ser)
c.1901C>G (p.Thr634Ser)
c.2315C>G (p.Thr772Ser)
c.2309C>G (p.Thr770Ser)
c.2306C>G (p.Thr769Ser)
c.2366C>G (p.Thr789Ser)
c.2357C>G (p.Thr786Ser)
c.2276C>G (p.Thr759Ser)
c.2225C>G (p.Thr742Ser)
14g.33800514C>TCA389414205NPAS3c.2207C>T (p.Thr736Ile)
c.2216C>T (p.Thr739Ile)
c.2107C>T
c.793+2933C>T
c.2111C>T (p.Thr704Ile)
c.2168C>T (p.Thr723Ile)
c.2117C>T (p.Thr706Ile)
c.2222C>T (p.Thr741Ile)
c.2129C>T (p.Thr710Ile)
c.2228C>T (p.Thr743Ile)
c.2258C>T (p.Thr753Ile)
c.2249C>T (p.Thr750Ile)
c.2219C>T (p.Thr740Ile)
c.2162C>T (p.Thr721Ile)
c.2108C>T (p.Thr703Ile)
c.1901C>T (p.Thr634Ile)
c.2315C>T (p.Thr772Ile)
c.2309C>T (p.Thr770Ile)
c.2306C>T (p.Thr769Ile)
c.2366C>T (p.Thr789Ile)
c.2357C>T (p.Thr786Ile)
c.2276C>T (p.Thr759Ile)
c.2225C>T (p.Thr742Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800517_33800531dupCA258719220NPAS3c.2210_2224dup (p.Pro741_Val742insAlaAlaLeuAlaPro)
c.2219_2233dup (p.Pro744_Val745insAlaAlaLeuAlaPro)
c.2110_2124dup
c.793+2936_793+2950dup
c.2114_2128dup (p.Pro709_Val710insAlaAlaLeuAlaPro)
c.2171_2185dup (p.Pro728_Val729insAlaAlaLeuAlaPro)
c.2120_2134dup (p.Pro711_Val712insAlaAlaLeuAlaPro)
c.2225_2239dup (p.Pro746_Val747insAlaAlaLeuAlaPro)
c.2132_2146dup (p.Pro715_Val716insAlaAlaLeuAlaPro)
c.2231_2245dup (p.Pro748_Val749insAlaAlaLeuAlaPro)
c.2261_2275dup (p.Pro758_Val759insAlaAlaLeuAlaPro)
c.2252_2266dup (p.Pro755_Val756insAlaAlaLeuAlaPro)
c.2222_2236dup (p.Pro745_Val746insAlaAlaLeuAlaPro)
c.2165_2179dup (p.Pro726_Val727insAlaAlaLeuAlaPro)
c.2111_2125dup (p.Pro708_Val709insAlaAlaLeuAlaPro)
c.1904_1918dup (p.Pro639_Val640insAlaAlaLeuAlaPro)
c.2318_2332dup (p.Pro777_Val778insAlaAlaLeuAlaPro)
c.2312_2326dup (p.Pro775_Val776insAlaAlaLeuAlaPro)
c.2309_2323dup (p.Pro774_Val775insAlaAlaLeuAlaPro)
c.2369_2383dup (p.Pro794_Val795insAlaAlaLeuAlaPro)
c.2360_2374dup (p.Pro791_Val792insAlaAlaLeuAlaPro)
c.2279_2293dup (p.Pro764_Val765insAlaAlaLeuAlaPro)
c.2228_2242dup (p.Pro747_Val748insAlaAlaLeuAlaPro)
 dbSNP
14g.33800515C>ACA486093296NPAS3c.2208C>A (p.Thr736=)
c.2217C>A (p.Thr739=)
c.2108C>A
c.793+2934C>A
c.2112C>A (p.Thr704=)
c.2169C>A (p.Thr723=)
c.2118C>A (p.Thr706=)
c.2223C>A (p.Thr741=)
c.2130C>A (p.Thr710=)
c.2229C>A (p.Thr743=)
c.2259C>A (p.Thr753=)
c.2250C>A (p.Thr750=)
c.2220C>A (p.Thr740=)
c.2163C>A (p.Thr721=)
c.2109C>A (p.Thr703=)
c.1902C>A (p.Thr634=)
c.2316C>A (p.Thr772=)
c.2310C>A (p.Thr770=)
c.2307C>A (p.Thr769=)
c.2367C>A (p.Thr789=)
c.2358C>A (p.Thr786=)
c.2277C>A (p.Thr759=)
c.2226C>A (p.Thr742=)
 dbSNP gnomAD v4
14g.33800515C=CA2128327663NPAS3c.2208C= (p.Thr736=)
c.2217C= (p.Thr739=)
c.2108C=
c.793+2934C=
c.2112C= (p.Thr704=)
c.2169C= (p.Thr723=)
c.2118C= (p.Thr706=)
c.2223C= (p.Thr741=)
c.2130C= (p.Thr710=)
c.2229C= (p.Thr743=)
c.2259C= (p.Thr753=)
c.2250C= (p.Thr750=)
c.2220C= (p.Thr740=)
c.2163C= (p.Thr721=)
c.2109C= (p.Thr703=)
c.1902C= (p.Thr634=)
c.2316C= (p.Thr772=)
c.2310C= (p.Thr770=)
c.2307C= (p.Thr769=)
c.2367C= (p.Thr789=)
c.2358C= (p.Thr786=)
c.2277C= (p.Thr759=)
c.2226C= (p.Thr742=)
14g.33800515C>GCA486093297NPAS3c.2208C>G (p.Thr736=)
c.2217C>G (p.Thr739=)
c.2108C>G
c.793+2934C>G
c.2112C>G (p.Thr704=)
c.2169C>G (p.Thr723=)
c.2118C>G (p.Thr706=)
c.2223C>G (p.Thr741=)
c.2130C>G (p.Thr710=)
c.2229C>G (p.Thr743=)
c.2259C>G (p.Thr753=)
c.2250C>G (p.Thr750=)
c.2220C>G (p.Thr740=)
c.2163C>G (p.Thr721=)
c.2109C>G (p.Thr703=)
c.1902C>G (p.Thr634=)
c.2316C>G (p.Thr772=)
c.2310C>G (p.Thr770=)
c.2307C>G (p.Thr769=)
c.2367C>G (p.Thr789=)
c.2358C>G (p.Thr786=)
c.2277C>G (p.Thr759=)
c.2226C>G (p.Thr742=)
 dbSNP gnomAD v3 gnomAD v4
14g.33800515C>TCA7150963NPAS3c.2208C>T (p.Thr736=)
c.2217C>T (p.Thr739=)
c.2108C>T
c.793+2934C>T
c.2112C>T (p.Thr704=)
c.2169C>T (p.Thr723=)
c.2118C>T (p.Thr706=)
c.2223C>T (p.Thr741=)
c.2130C>T (p.Thr710=)
c.2229C>T (p.Thr743=)
c.2259C>T (p.Thr753=)
c.2250C>T (p.Thr750=)
c.2220C>T (p.Thr740=)
c.2163C>T (p.Thr721=)
c.2109C>T (p.Thr703=)
c.1902C>T (p.Thr634=)
c.2316C>T (p.Thr772=)
c.2310C>T (p.Thr770=)
c.2307C>T (p.Thr769=)
c.2367C>T (p.Thr789=)
c.2358C>T (p.Thr786=)
c.2277C>T (p.Thr759=)
c.2226C>T (p.Thr742=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800516G>ACA389414206NPAS3c.2209G>A (p.Ala737Thr)
c.2218G>A (p.Ala740Thr)
c.2109G>A
c.793+2935G>A
c.2113G>A (p.Ala705Thr)
c.2170G>A (p.Ala724Thr)
c.2119G>A (p.Ala707Thr)
c.2224G>A (p.Ala742Thr)
c.2131G>A (p.Ala711Thr)
c.2230G>A (p.Ala744Thr)
c.2260G>A (p.Ala754Thr)
c.2251G>A (p.Ala751Thr)
c.2221G>A (p.Ala741Thr)
c.2164G>A (p.Ala722Thr)
c.2110G>A (p.Ala704Thr)
c.1903G>A (p.Ala635Thr)
c.2317G>A (p.Ala773Thr)
c.2311G>A (p.Ala771Thr)
c.2308G>A (p.Ala770Thr)
c.2368G>A (p.Ala790Thr)
c.2359G>A (p.Ala787Thr)
c.2278G>A (p.Ala760Thr)
c.2227G>A (p.Ala743Thr)
 ClinVar dbSNP gnomAD v4
14g.33800516G>CCA389414207NPAS3c.2209G>C (p.Ala737Pro)
c.2218G>C (p.Ala740Pro)
c.2109G>C
c.793+2935G>C
c.2113G>C (p.Ala705Pro)
c.2170G>C (p.Ala724Pro)
c.2119G>C (p.Ala707Pro)
c.2224G>C (p.Ala742Pro)
c.2131G>C (p.Ala711Pro)
c.2230G>C (p.Ala744Pro)
c.2260G>C (p.Ala754Pro)
c.2251G>C (p.Ala751Pro)
c.2221G>C (p.Ala741Pro)
c.2164G>C (p.Ala722Pro)
c.2110G>C (p.Ala704Pro)
c.1903G>C (p.Ala635Pro)
c.2317G>C (p.Ala773Pro)
c.2311G>C (p.Ala771Pro)
c.2308G>C (p.Ala770Pro)
c.2368G>C (p.Ala790Pro)
c.2359G>C (p.Ala787Pro)
c.2278G>C (p.Ala760Pro)
c.2227G>C (p.Ala743Pro)
 gnomAD v4
14g.33800516G=CA2128327671NPAS3c.2209G= (p.Ala737=)
c.2218G= (p.Ala740=)
c.2109G=
c.793+2935G=
c.2113G= (p.Ala705=)
c.2170G= (p.Ala724=)
c.2119G= (p.Ala707=)
c.2224G= (p.Ala742=)
c.2131G= (p.Ala711=)
c.2230G= (p.Ala744=)
c.2260G= (p.Ala754=)
c.2251G= (p.Ala751=)
c.2221G= (p.Ala741=)
c.2164G= (p.Ala722=)
c.2110G= (p.Ala704=)
c.1903G= (p.Ala635=)
c.2317G= (p.Ala773=)
c.2311G= (p.Ala771=)
c.2308G= (p.Ala770=)
c.2368G= (p.Ala790=)
c.2359G= (p.Ala787=)
c.2278G= (p.Ala760=)
c.2227G= (p.Ala743=)
14g.33800516G>TCA389414208NPAS3c.2209G>T (p.Ala737Ser)
c.2218G>T (p.Ala740Ser)
c.2109G>T
c.793+2935G>T
c.2113G>T (p.Ala705Ser)
c.2170G>T (p.Ala724Ser)
c.2119G>T (p.Ala707Ser)
c.2224G>T (p.Ala742Ser)
c.2131G>T (p.Ala711Ser)
c.2230G>T (p.Ala744Ser)
c.2260G>T (p.Ala754Ser)
c.2251G>T (p.Ala751Ser)
c.2221G>T (p.Ala741Ser)
c.2164G>T (p.Ala722Ser)
c.2110G>T (p.Ala704Ser)
c.1903G>T (p.Ala635Ser)
c.2317G>T (p.Ala773Ser)
c.2311G>T (p.Ala771Ser)
c.2308G>T (p.Ala770Ser)
c.2368G>T (p.Ala790Ser)
c.2359G>T (p.Ala787Ser)
c.2278G>T (p.Ala760Ser)
c.2227G>T (p.Ala743Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.33800517C>ACA389414209NPAS3c.2210C>A (p.Ala737Glu)
c.2219C>A (p.Ala740Glu)
c.2110C>A
c.793+2936C>A
c.2114C>A (p.Ala705Glu)
c.2171C>A (p.Ala724Glu)
c.2120C>A (p.Ala707Glu)
c.2225C>A (p.Ala742Glu)
c.2132C>A (p.Ala711Glu)
c.2231C>A (p.Ala744Glu)
c.2261C>A (p.Ala754Glu)
c.2252C>A (p.Ala751Glu)
c.2222C>A (p.Ala741Glu)
c.2165C>A (p.Ala722Glu)
c.2111C>A (p.Ala704Glu)
c.1904C>A (p.Ala635Glu)
c.2318C>A (p.Ala773Glu)
c.2312C>A (p.Ala771Glu)
c.2309C>A (p.Ala770Glu)
c.2369C>A (p.Ala790Glu)
c.2360C>A (p.Ala787Glu)
c.2279C>A (p.Ala760Glu)
c.2228C>A (p.Ala743Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800517C=CA2128327675NPAS3c.2210C= (p.Ala737=)
c.2219C= (p.Ala740=)
c.2110C=
c.793+2936C=
c.2114C= (p.Ala705=)
c.2171C= (p.Ala724=)
c.2120C= (p.Ala707=)
c.2225C= (p.Ala742=)
c.2132C= (p.Ala711=)
c.2231C= (p.Ala744=)
c.2261C= (p.Ala754=)
c.2252C= (p.Ala751=)
c.2222C= (p.Ala741=)
c.2165C= (p.Ala722=)
c.2111C= (p.Ala704=)
c.1904C= (p.Ala635=)
c.2318C= (p.Ala773=)
c.2312C= (p.Ala771=)
c.2309C= (p.Ala770=)
c.2369C= (p.Ala790=)
c.2360C= (p.Ala787=)
c.2279C= (p.Ala760=)
c.2228C= (p.Ala743=)
14g.33800517C>GCA389414210NPAS3c.2210C>G (p.Ala737Gly)
c.2219C>G (p.Ala740Gly)
c.2110C>G
c.793+2936C>G
c.2114C>G (p.Ala705Gly)
c.2171C>G (p.Ala724Gly)
c.2120C>G (p.Ala707Gly)
c.2225C>G (p.Ala742Gly)
c.2132C>G (p.Ala711Gly)
c.2231C>G (p.Ala744Gly)
c.2261C>G (p.Ala754Gly)
c.2252C>G (p.Ala751Gly)
c.2222C>G (p.Ala741Gly)
c.2165C>G (p.Ala722Gly)
c.2111C>G (p.Ala704Gly)
c.1904C>G (p.Ala635Gly)
c.2318C>G (p.Ala773Gly)
c.2312C>G (p.Ala771Gly)
c.2309C>G (p.Ala770Gly)
c.2369C>G (p.Ala790Gly)
c.2360C>G (p.Ala787Gly)
c.2279C>G (p.Ala760Gly)
c.2228C>G (p.Ala743Gly)
14g.33800517C>TCA389414211NPAS3c.2210C>T (p.Ala737Val)
c.2219C>T (p.Ala740Val)
c.2110C>T
c.793+2936C>T
c.2114C>T (p.Ala705Val)
c.2171C>T (p.Ala724Val)
c.2120C>T (p.Ala707Val)
c.2225C>T (p.Ala742Val)
c.2132C>T (p.Ala711Val)
c.2231C>T (p.Ala744Val)
c.2261C>T (p.Ala754Val)
c.2252C>T (p.Ala751Val)
c.2222C>T (p.Ala741Val)
c.2165C>T (p.Ala722Val)
c.2111C>T (p.Ala704Val)
c.1904C>T (p.Ala635Val)
c.2318C>T (p.Ala773Val)
c.2312C>T (p.Ala771Val)
c.2309C>T (p.Ala770Val)
c.2369C>T (p.Ala790Val)
c.2360C>T (p.Ala787Val)
c.2279C>T (p.Ala760Val)
c.2228C>T (p.Ala743Val)
 dbSNP gnomAD v2 gnomAD v4
14g.33800518G>ACA486093299NPAS3c.2211G>A (p.Ala737=)
c.2220G>A (p.Ala740=)
c.2111G>A
c.793+2937G>A
c.2115G>A (p.Ala705=)
c.2172G>A (p.Ala724=)
c.2121G>A (p.Ala707=)
c.2226G>A (p.Ala742=)
c.2133G>A (p.Ala711=)
c.2232G>A (p.Ala744=)
c.2262G>A (p.Ala754=)
c.2253G>A (p.Ala751=)
c.2223G>A (p.Ala741=)
c.2166G>A (p.Ala722=)
c.2112G>A (p.Ala704=)
c.1905G>A (p.Ala635=)
c.2319G>A (p.Ala773=)
c.2313G>A (p.Ala771=)
c.2310G>A (p.Ala770=)
c.2370G>A (p.Ala790=)
c.2361G>A (p.Ala787=)
c.2280G>A (p.Ala760=)
c.2229G>A (p.Ala743=)
 dbSNP gnomAD v4
14g.33800518G>CCA486093301NPAS3c.2211G>C (p.Ala737=)
c.2220G>C (p.Ala740=)
c.2111G>C
c.793+2937G>C
c.2115G>C (p.Ala705=)
c.2172G>C (p.Ala724=)
c.2121G>C (p.Ala707=)
c.2226G>C (p.Ala742=)
c.2133G>C (p.Ala711=)
c.2232G>C (p.Ala744=)
c.2262G>C (p.Ala754=)
c.2253G>C (p.Ala751=)
c.2223G>C (p.Ala741=)
c.2166G>C (p.Ala722=)
c.2112G>C (p.Ala704=)
c.1905G>C (p.Ala635=)
c.2319G>C (p.Ala773=)
c.2313G>C (p.Ala771=)
c.2310G>C (p.Ala770=)
c.2370G>C (p.Ala790=)
c.2361G>C (p.Ala787=)
c.2280G>C (p.Ala760=)
c.2229G>C (p.Ala743=)
 dbSNP gnomAD v3 gnomAD v4
14g.33800518G=CA2128327677NPAS3c.2211G= (p.Ala737=)
c.2220G= (p.Ala740=)
c.2111G=
c.793+2937G=
c.2115G= (p.Ala705=)
c.2172G= (p.Ala724=)
c.2121G= (p.Ala707=)
c.2226G= (p.Ala742=)
c.2133G= (p.Ala711=)
c.2232G= (p.Ala744=)
c.2262G= (p.Ala754=)
c.2253G= (p.Ala751=)
c.2223G= (p.Ala741=)
c.2166G= (p.Ala722=)
c.2112G= (p.Ala704=)
c.1905G= (p.Ala635=)
c.2319G= (p.Ala773=)
c.2313G= (p.Ala771=)
c.2310G= (p.Ala770=)
c.2370G= (p.Ala790=)
c.2361G= (p.Ala787=)
c.2280G= (p.Ala760=)
c.2229G= (p.Ala743=)
14g.33800518G>TCA486093300NPAS3c.2211G>T (p.Ala737=)
c.2220G>T (p.Ala740=)
c.2111G>T
c.793+2937G>T
c.2115G>T (p.Ala705=)
c.2172G>T (p.Ala724=)
c.2121G>T (p.Ala707=)
c.2226G>T (p.Ala742=)
c.2133G>T (p.Ala711=)
c.2232G>T (p.Ala744=)
c.2262G>T (p.Ala754=)
c.2253G>T (p.Ala751=)
c.2223G>T (p.Ala741=)
c.2166G>T (p.Ala722=)
c.2112G>T (p.Ala704=)
c.1905G>T (p.Ala635=)
c.2319G>T (p.Ala773=)
c.2313G>T (p.Ala771=)
c.2310G>T (p.Ala770=)
c.2370G>T (p.Ala790=)
c.2361G>T (p.Ala787=)
c.2280G>T (p.Ala760=)
c.2229G>T (p.Ala743=)
 gnomAD v4
14g.33800519G>ACA389414212NPAS3c.2212G>A (p.Ala738Thr)
c.2221G>A (p.Ala741Thr)
c.2112G>A
c.793+2938G>A
c.2116G>A (p.Ala706Thr)
c.2173G>A (p.Ala725Thr)
c.2122G>A (p.Ala708Thr)
c.2227G>A (p.Ala743Thr)
c.2134G>A (p.Ala712Thr)
c.2233G>A (p.Ala745Thr)
c.2263G>A (p.Ala755Thr)
c.2254G>A (p.Ala752Thr)
c.2224G>A (p.Ala742Thr)
c.2167G>A (p.Ala723Thr)
c.2113G>A (p.Ala705Thr)
c.1906G>A (p.Ala636Thr)
c.2320G>A (p.Ala774Thr)
c.2314G>A (p.Ala772Thr)
c.2311G>A (p.Ala771Thr)
c.2371G>A (p.Ala791Thr)
c.2362G>A (p.Ala788Thr)
c.2281G>A (p.Ala761Thr)
c.2230G>A (p.Ala744Thr)
 gnomAD v4
14g.33800519G>CCA389414213NPAS3c.2212G>C (p.Ala738Pro)
c.2221G>C (p.Ala741Pro)
c.2112G>C
c.793+2938G>C
c.2116G>C (p.Ala706Pro)
c.2173G>C (p.Ala725Pro)
c.2122G>C (p.Ala708Pro)
c.2227G>C (p.Ala743Pro)
c.2134G>C (p.Ala712Pro)
c.2233G>C (p.Ala745Pro)
c.2263G>C (p.Ala755Pro)
c.2254G>C (p.Ala752Pro)
c.2224G>C (p.Ala742Pro)
c.2167G>C (p.Ala723Pro)
c.2113G>C (p.Ala705Pro)
c.1906G>C (p.Ala636Pro)
c.2320G>C (p.Ala774Pro)
c.2314G>C (p.Ala772Pro)
c.2311G>C (p.Ala771Pro)
c.2371G>C (p.Ala791Pro)
c.2362G>C (p.Ala788Pro)
c.2281G>C (p.Ala761Pro)
c.2230G>C (p.Ala744Pro)
 gnomAD v4
14g.33800519G>TCA389414214NPAS3c.2212G>T (p.Ala738Ser)
c.2221G>T (p.Ala741Ser)
c.2112G>T
c.793+2938G>T
c.2116G>T (p.Ala706Ser)
c.2173G>T (p.Ala725Ser)
c.2122G>T (p.Ala708Ser)
c.2227G>T (p.Ala743Ser)
c.2134G>T (p.Ala712Ser)
c.2233G>T (p.Ala745Ser)
c.2263G>T (p.Ala755Ser)
c.2254G>T (p.Ala752Ser)
c.2224G>T (p.Ala742Ser)
c.2167G>T (p.Ala723Ser)
c.2113G>T (p.Ala705Ser)
c.1906G>T (p.Ala636Ser)
c.2320G>T (p.Ala774Ser)
c.2314G>T (p.Ala772Ser)
c.2311G>T (p.Ala771Ser)
c.2371G>T (p.Ala791Ser)
c.2362G>T (p.Ala788Ser)
c.2281G>T (p.Ala761Ser)
c.2230G>T (p.Ala744Ser)
 gnomAD v4
14g.33800520C>ACA389414217NPAS3c.2213C>A (p.Ala738Asp)
c.2222C>A (p.Ala741Asp)
c.2113C>A
c.793+2939C>A
c.2117C>A (p.Ala706Asp)
c.2174C>A (p.Ala725Asp)
c.2123C>A (p.Ala708Asp)
c.2228C>A (p.Ala743Asp)
c.2135C>A (p.Ala712Asp)
c.2234C>A (p.Ala745Asp)
c.2264C>A (p.Ala755Asp)
c.2255C>A (p.Ala752Asp)
c.2225C>A (p.Ala742Asp)
c.2168C>A (p.Ala723Asp)
c.2114C>A (p.Ala705Asp)
c.1907C>A (p.Ala636Asp)
c.2321C>A (p.Ala774Asp)
c.2315C>A (p.Ala772Asp)
c.2312C>A (p.Ala771Asp)
c.2372C>A (p.Ala791Asp)
c.2363C>A (p.Ala788Asp)
c.2282C>A (p.Ala761Asp)
c.2231C>A (p.Ala744Asp)
 ClinVar gnomAD v4
14g.33800520C=CA2128327680NPAS3c.2213C= (p.Ala738=)
c.2222C= (p.Ala741=)
c.2113C=
c.793+2939C=
c.2117C= (p.Ala706=)
c.2174C= (p.Ala725=)
c.2123C= (p.Ala708=)
c.2228C= (p.Ala743=)
c.2135C= (p.Ala712=)
c.2234C= (p.Ala745=)
c.2264C= (p.Ala755=)
c.2255C= (p.Ala752=)
c.2225C= (p.Ala742=)
c.2168C= (p.Ala723=)
c.2114C= (p.Ala705=)
c.1907C= (p.Ala636=)
c.2321C= (p.Ala774=)
c.2315C= (p.Ala772=)
c.2312C= (p.Ala771=)
c.2372C= (p.Ala791=)
c.2363C= (p.Ala788=)
c.2282C= (p.Ala761=)
c.2231C= (p.Ala744=)
14g.33800520C>GCA389414215NPAS3c.2213C>G (p.Ala738Gly)
c.2222C>G (p.Ala741Gly)
c.2113C>G
c.793+2939C>G
c.2117C>G (p.Ala706Gly)
c.2174C>G (p.Ala725Gly)
c.2123C>G (p.Ala708Gly)
c.2228C>G (p.Ala743Gly)
c.2135C>G (p.Ala712Gly)
c.2234C>G (p.Ala745Gly)
c.2264C>G (p.Ala755Gly)
c.2255C>G (p.Ala752Gly)
c.2225C>G (p.Ala742Gly)
c.2168C>G (p.Ala723Gly)
c.2114C>G (p.Ala705Gly)
c.1907C>G (p.Ala636Gly)
c.2321C>G (p.Ala774Gly)
c.2315C>G (p.Ala772Gly)
c.2312C>G (p.Ala771Gly)
c.2372C>G (p.Ala791Gly)
c.2363C>G (p.Ala788Gly)
c.2282C>G (p.Ala761Gly)
c.2231C>G (p.Ala744Gly)
14g.33800520C>TCA389414216NPAS3c.2213C>T (p.Ala738Val)
c.2222C>T (p.Ala741Val)
c.2113C>T
c.793+2939C>T
c.2117C>T (p.Ala706Val)
c.2174C>T (p.Ala725Val)
c.2123C>T (p.Ala708Val)
c.2228C>T (p.Ala743Val)
c.2135C>T (p.Ala712Val)
c.2234C>T (p.Ala745Val)
c.2264C>T (p.Ala755Val)
c.2255C>T (p.Ala752Val)
c.2225C>T (p.Ala742Val)
c.2168C>T (p.Ala723Val)
c.2114C>T (p.Ala705Val)
c.1907C>T (p.Ala636Val)
c.2321C>T (p.Ala774Val)
c.2315C>T (p.Ala772Val)
c.2312C>T (p.Ala771Val)
c.2372C>T (p.Ala791Val)
c.2363C>T (p.Ala788Val)
c.2282C>T (p.Ala761Val)
c.2231C>T (p.Ala744Val)
 dbSNP gnomAD v3 gnomAD v4
14g.33800522delCA2624512041NPAS3c.2215del (p.Leu739TrpfsTer?)
c.2224del (p.Leu742TrpfsTer?)
c.2115del
c.793+2941del
c.2119del (p.Leu707TrpfsTer?)
c.2176del (p.Leu726TrpfsTer?)
c.2125del (p.Leu709TrpfsTer?)
c.2230del (p.Leu744TrpfsTer?)
c.2137del (p.Leu713TrpfsTer?)
c.2236del (p.Leu746TrpfsTer?)
c.2266del (p.Leu756TrpfsTer?)
c.2257del (p.Leu753TrpfsTer?)
c.2227del (p.Leu743TrpfsTer?)
c.2170del (p.Leu724TrpfsTer?)
c.2116del (p.Leu706TrpfsTer?)
c.1909del (p.Leu637TrpfsTer?)
c.2323del (p.Leu775TrpfsTer?)
c.2317del (p.Leu773TrpfsTer?)
c.2314del (p.Leu772TrpfsTer?)
c.2374del (p.Leu792TrpfsTer?)
c.2365del (p.Leu789TrpfsTer?)
c.2284del (p.Leu762TrpfsTer?)
c.2233del (p.Leu745TrpfsTer?)
 gnomAD v4
14g.33800521C>ACA486093303NPAS3c.2214C>A (p.Ala738=)
c.2223C>A (p.Ala741=)
c.2114C>A
c.793+2940C>A
c.2118C>A (p.Ala706=)
c.2175C>A (p.Ala725=)
c.2124C>A (p.Ala708=)
c.2229C>A (p.Ala743=)
c.2136C>A (p.Ala712=)
c.2235C>A (p.Ala745=)
c.2265C>A (p.Ala755=)
c.2256C>A (p.Ala752=)
c.2226C>A (p.Ala742=)
c.2169C>A (p.Ala723=)
c.2115C>A (p.Ala705=)
c.1908C>A (p.Ala636=)
c.2322C>A (p.Ala774=)
c.2316C>A (p.Ala772=)
c.2313C>A (p.Ala771=)
c.2373C>A (p.Ala791=)
c.2364C>A (p.Ala788=)
c.2283C>A (p.Ala761=)
c.2232C>A (p.Ala744=)
 gnomAD v4
14g.33800521C>GCA486093304NPAS3c.2214C>G (p.Ala738=)
c.2223C>G (p.Ala741=)
c.2114C>G
c.793+2940C>G
c.2118C>G (p.Ala706=)
c.2175C>G (p.Ala725=)
c.2124C>G (p.Ala708=)
c.2229C>G (p.Ala743=)
c.2136C>G (p.Ala712=)
c.2235C>G (p.Ala745=)
c.2265C>G (p.Ala755=)
c.2256C>G (p.Ala752=)
c.2226C>G (p.Ala742=)
c.2169C>G (p.Ala723=)
c.2115C>G (p.Ala705=)
c.1908C>G (p.Ala636=)
c.2322C>G (p.Ala774=)
c.2316C>G (p.Ala772=)
c.2313C>G (p.Ala771=)
c.2373C>G (p.Ala791=)
c.2364C>G (p.Ala788=)
c.2283C>G (p.Ala761=)
c.2232C>G (p.Ala744=)
14g.33800521C>TCA486093306NPAS3c.2214C>T (p.Ala738=)
c.2223C>T (p.Ala741=)
c.2114C>T
c.793+2940C>T
c.2118C>T (p.Ala706=)
c.2175C>T (p.Ala725=)
c.2124C>T (p.Ala708=)
c.2229C>T (p.Ala743=)
c.2136C>T (p.Ala712=)
c.2235C>T (p.Ala745=)
c.2265C>T (p.Ala755=)
c.2256C>T (p.Ala752=)
c.2226C>T (p.Ala742=)
c.2169C>T (p.Ala723=)
c.2115C>T (p.Ala705=)
c.1908C>T (p.Ala636=)
c.2322C>T (p.Ala774=)
c.2316C>T (p.Ala772=)
c.2313C>T (p.Ala771=)
c.2373C>T (p.Ala791=)
c.2364C>T (p.Ala788=)
c.2283C>T (p.Ala761=)
c.2232C>T (p.Ala744=)
 gnomAD v4
14g.33800522C>ACA389414218NPAS3c.2215C>A (p.Leu739Met)
c.2224C>A (p.Leu742Met)
c.2115C>A
c.793+2941C>A
c.2119C>A (p.Leu707Met)
c.2176C>A (p.Leu726Met)
c.2125C>A (p.Leu709Met)
c.2230C>A (p.Leu744Met)
c.2137C>A (p.Leu713Met)
c.2236C>A (p.Leu746Met)
c.2266C>A (p.Leu756Met)
c.2257C>A (p.Leu753Met)
c.2227C>A (p.Leu743Met)
c.2170C>A (p.Leu724Met)
c.2116C>A (p.Leu706Met)
c.1909C>A (p.Leu637Met)
c.2323C>A (p.Leu775Met)
c.2317C>A (p.Leu773Met)
c.2314C>A (p.Leu772Met)
c.2374C>A (p.Leu792Met)
c.2365C>A (p.Leu789Met)
c.2284C>A (p.Leu762Met)
c.2233C>A (p.Leu745Met)
 gnomAD v4
14g.33800522C>GCA389414219NPAS3c.2215C>G (p.Leu739Val)
c.2224C>G (p.Leu742Val)
c.2115C>G
c.793+2941C>G
c.2119C>G (p.Leu707Val)
c.2176C>G (p.Leu726Val)
c.2125C>G (p.Leu709Val)
c.2230C>G (p.Leu744Val)
c.2137C>G (p.Leu713Val)
c.2236C>G (p.Leu746Val)
c.2266C>G (p.Leu756Val)
c.2257C>G (p.Leu753Val)
c.2227C>G (p.Leu743Val)
c.2170C>G (p.Leu724Val)
c.2116C>G (p.Leu706Val)
c.1909C>G (p.Leu637Val)
c.2323C>G (p.Leu775Val)
c.2317C>G (p.Leu773Val)
c.2314C>G (p.Leu772Val)
c.2374C>G (p.Leu792Val)
c.2365C>G (p.Leu789Val)
c.2284C>G (p.Leu762Val)
c.2233C>G (p.Leu745Val)
14g.33800522C>TCA486093311NPAS3c.2215C>T (p.Leu739=)
c.2224C>T (p.Leu742=)
c.2115C>T
c.793+2941C>T
c.2119C>T (p.Leu707=)
c.2176C>T (p.Leu726=)
c.2125C>T (p.Leu709=)
c.2230C>T (p.Leu744=)
c.2137C>T (p.Leu713=)
c.2236C>T (p.Leu746=)
c.2266C>T (p.Leu756=)
c.2257C>T (p.Leu753=)
c.2227C>T (p.Leu743=)
c.2170C>T (p.Leu724=)
c.2116C>T (p.Leu706=)
c.1909C>T (p.Leu637=)
c.2323C>T (p.Leu775=)
c.2317C>T (p.Leu773=)
c.2314C>T (p.Leu772=)
c.2374C>T (p.Leu792=)
c.2365C>T (p.Leu789=)
c.2284C>T (p.Leu762=)
c.2233C>T (p.Leu745=)
 gnomAD v4
14g.33800523T>ACA389414220NPAS3c.2216T>A (p.Leu739Gln)
c.2225T>A (p.Leu742Gln)
c.2116T>A
c.793+2942T>A
c.2120T>A (p.Leu707Gln)
c.2177T>A (p.Leu726Gln)
c.2126T>A (p.Leu709Gln)
c.2231T>A (p.Leu744Gln)
c.2138T>A (p.Leu713Gln)
c.2237T>A (p.Leu746Gln)
c.2267T>A (p.Leu756Gln)
c.2258T>A (p.Leu753Gln)
c.2228T>A (p.Leu743Gln)
c.2171T>A (p.Leu724Gln)
c.2117T>A (p.Leu706Gln)
c.1910T>A (p.Leu637Gln)
c.2324T>A (p.Leu775Gln)
c.2318T>A (p.Leu773Gln)
c.2315T>A (p.Leu772Gln)
c.2375T>A (p.Leu792Gln)
c.2366T>A (p.Leu789Gln)
c.2285T>A (p.Leu762Gln)
c.2234T>A (p.Leu745Gln)
 gnomAD v4
14g.33800523T>CCA389414221NPAS3c.2216T>C (p.Leu739Pro)
c.2225T>C (p.Leu742Pro)
c.2116T>C
c.793+2942T>C
c.2120T>C (p.Leu707Pro)
c.2177T>C (p.Leu726Pro)
c.2126T>C (p.Leu709Pro)
c.2231T>C (p.Leu744Pro)
c.2138T>C (p.Leu713Pro)
c.2237T>C (p.Leu746Pro)
c.2267T>C (p.Leu756Pro)
c.2258T>C (p.Leu753Pro)
c.2228T>C (p.Leu743Pro)
c.2171T>C (p.Leu724Pro)
c.2117T>C (p.Leu706Pro)
c.1910T>C (p.Leu637Pro)
c.2324T>C (p.Leu775Pro)
c.2318T>C (p.Leu773Pro)
c.2315T>C (p.Leu772Pro)
c.2375T>C (p.Leu792Pro)
c.2366T>C (p.Leu789Pro)
c.2285T>C (p.Leu762Pro)
c.2234T>C (p.Leu745Pro)
 dbSNP gnomAD v4
14g.33800523T>GCA389414222NPAS3c.2216T>G (p.Leu739Arg)
c.2225T>G (p.Leu742Arg)
c.2116T>G
c.793+2942T>G
c.2120T>G (p.Leu707Arg)
c.2177T>G (p.Leu726Arg)
c.2126T>G (p.Leu709Arg)
c.2231T>G (p.Leu744Arg)
c.2138T>G (p.Leu713Arg)
c.2237T>G (p.Leu746Arg)
c.2267T>G (p.Leu756Arg)
c.2258T>G (p.Leu753Arg)
c.2228T>G (p.Leu743Arg)
c.2171T>G (p.Leu724Arg)
c.2117T>G (p.Leu706Arg)
c.1910T>G (p.Leu637Arg)
c.2324T>G (p.Leu775Arg)
c.2318T>G (p.Leu773Arg)
c.2315T>G (p.Leu772Arg)
c.2375T>G (p.Leu792Arg)
c.2366T>G (p.Leu789Arg)
c.2285T>G (p.Leu762Arg)
c.2234T>G (p.Leu745Arg)
14g.33800524G>ACA486093313NPAS3c.2217G>A (p.Leu739=)
c.2226G>A (p.Leu742=)
c.2117G>A
c.793+2943G>A
c.2121G>A (p.Leu707=)
c.2178G>A (p.Leu726=)
c.2127G>A (p.Leu709=)
c.2232G>A (p.Leu744=)
c.2139G>A (p.Leu713=)
c.2238G>A (p.Leu746=)
c.2268G>A (p.Leu756=)
c.2259G>A (p.Leu753=)
c.2229G>A (p.Leu743=)
c.2172G>A (p.Leu724=)
c.2118G>A (p.Leu706=)
c.1911G>A (p.Leu637=)
c.2325G>A (p.Leu775=)
c.2319G>A (p.Leu773=)
c.2316G>A (p.Leu772=)
c.2376G>A (p.Leu792=)
c.2367G>A (p.Leu789=)
c.2286G>A (p.Leu762=)
c.2235G>A (p.Leu745=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800524G>CCA486093314NPAS3c.2217G>C (p.Leu739=)
c.2226G>C (p.Leu742=)
c.2117G>C
c.793+2943G>C
c.2121G>C (p.Leu707=)
c.2178G>C (p.Leu726=)
c.2127G>C (p.Leu709=)
c.2232G>C (p.Leu744=)
c.2139G>C (p.Leu713=)
c.2238G>C (p.Leu746=)
c.2268G>C (p.Leu756=)
c.2259G>C (p.Leu753=)
c.2229G>C (p.Leu743=)
c.2172G>C (p.Leu724=)
c.2118G>C (p.Leu706=)
c.1911G>C (p.Leu637=)
c.2325G>C (p.Leu775=)
c.2319G>C (p.Leu773=)
c.2316G>C (p.Leu772=)
c.2376G>C (p.Leu792=)
c.2367G>C (p.Leu789=)
c.2286G>C (p.Leu762=)
c.2235G>C (p.Leu745=)
14g.33800524G=CA2128327683NPAS3c.2217G= (p.Leu739=)
c.2226G= (p.Leu742=)
c.2117G=
c.793+2943G=
c.2121G= (p.Leu707=)
c.2178G= (p.Leu726=)
c.2127G= (p.Leu709=)
c.2232G= (p.Leu744=)
c.2139G= (p.Leu713=)
c.2238G= (p.Leu746=)
c.2268G= (p.Leu756=)
c.2259G= (p.Leu753=)
c.2229G= (p.Leu743=)
c.2172G= (p.Leu724=)
c.2118G= (p.Leu706=)
c.1911G= (p.Leu637=)
c.2325G= (p.Leu775=)
c.2319G= (p.Leu773=)
c.2316G= (p.Leu772=)
c.2376G= (p.Leu792=)
c.2367G= (p.Leu789=)
c.2286G= (p.Leu762=)
c.2235G= (p.Leu745=)
14g.33800524G>TCA486093316NPAS3c.2217G>T (p.Leu739=)
c.2226G>T (p.Leu742=)
c.2117G>T
c.793+2943G>T
c.2121G>T (p.Leu707=)
c.2178G>T (p.Leu726=)
c.2127G>T (p.Leu709=)
c.2232G>T (p.Leu744=)
c.2139G>T (p.Leu713=)
c.2238G>T (p.Leu746=)
c.2268G>T (p.Leu756=)
c.2259G>T (p.Leu753=)
c.2229G>T (p.Leu743=)
c.2172G>T (p.Leu724=)
c.2118G>T (p.Leu706=)
c.1911G>T (p.Leu637=)
c.2325G>T (p.Leu775=)
c.2319G>T (p.Leu773=)
c.2316G>T (p.Leu772=)
c.2376G>T (p.Leu792=)
c.2367G>T (p.Leu789=)
c.2286G>T (p.Leu762=)
c.2235G>T (p.Leu745=)
 gnomAD v4
14g.33800525delCA2624512042NPAS3c.2218del (p.Ala740ProfsTer?)
c.2227del (p.Ala743ProfsTer?)
c.2118del
c.793+2944del
c.2122del (p.Ala708ProfsTer?)
c.2179del (p.Ala727ProfsTer?)
c.2128del (p.Ala710ProfsTer?)
c.2233del (p.Ala745ProfsTer?)
c.2140del (p.Ala714ProfsTer?)
c.2239del (p.Ala747ProfsTer?)
c.2269del (p.Ala757ProfsTer?)
c.2260del (p.Ala754ProfsTer?)
c.2230del (p.Ala744ProfsTer?)
c.2173del (p.Ala725ProfsTer?)
c.2119del (p.Ala707ProfsTer?)
c.1912del (p.Ala638ProfsTer?)
c.2326del (p.Ala776ProfsTer?)
c.2320del (p.Ala774ProfsTer?)
c.2317del (p.Ala773ProfsTer?)
c.2377del (p.Ala793ProfsTer?)
c.2368del (p.Ala790ProfsTer?)
c.2287del (p.Ala763ProfsTer?)
c.2236del (p.Ala746ProfsTer?)
 gnomAD v4
14g.33800525G>ACA389414225NPAS3c.2218G>A (p.Ala740Thr)
c.2227G>A (p.Ala743Thr)
c.2118G>A
c.793+2944G>A
c.2122G>A (p.Ala708Thr)
c.2179G>A (p.Ala727Thr)
c.2128G>A (p.Ala710Thr)
c.2233G>A (p.Ala745Thr)
c.2140G>A (p.Ala714Thr)
c.2239G>A (p.Ala747Thr)
c.2269G>A (p.Ala757Thr)
c.2260G>A (p.Ala754Thr)
c.2230G>A (p.Ala744Thr)
c.2173G>A (p.Ala725Thr)
c.2119G>A (p.Ala707Thr)
c.1912G>A (p.Ala638Thr)
c.2326G>A (p.Ala776Thr)
c.2320G>A (p.Ala774Thr)
c.2317G>A (p.Ala773Thr)
c.2377G>A (p.Ala793Thr)
c.2368G>A (p.Ala790Thr)
c.2287G>A (p.Ala763Thr)
c.2236G>A (p.Ala746Thr)
 gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800525G>CCA389414224NPAS3c.2218G>C (p.Ala740Pro)
c.2227G>C (p.Ala743Pro)
c.2118G>C
c.793+2944G>C
c.2122G>C (p.Ala708Pro)
c.2179G>C (p.Ala727Pro)
c.2128G>C (p.Ala710Pro)
c.2233G>C (p.Ala745Pro)
c.2140G>C (p.Ala714Pro)
c.2239G>C (p.Ala747Pro)
c.2269G>C (p.Ala757Pro)
c.2260G>C (p.Ala754Pro)
c.2230G>C (p.Ala744Pro)
c.2173G>C (p.Ala725Pro)
c.2119G>C (p.Ala707Pro)
c.1912G>C (p.Ala638Pro)
c.2326G>C (p.Ala776Pro)
c.2320G>C (p.Ala774Pro)
c.2317G>C (p.Ala773Pro)
c.2377G>C (p.Ala793Pro)
c.2368G>C (p.Ala790Pro)
c.2287G>C (p.Ala763Pro)
c.2236G>C (p.Ala746Pro)
 gnomAD v4
14g.33800525G>TCA389414223NPAS3c.2218G>T (p.Ala740Ser)
c.2227G>T (p.Ala743Ser)
c.2118G>T
c.793+2944G>T
c.2122G>T (p.Ala708Ser)
c.2179G>T (p.Ala727Ser)
c.2128G>T (p.Ala710Ser)
c.2233G>T (p.Ala745Ser)
c.2140G>T (p.Ala714Ser)
c.2239G>T (p.Ala747Ser)
c.2269G>T (p.Ala757Ser)
c.2260G>T (p.Ala754Ser)
c.2230G>T (p.Ala744Ser)
c.2173G>T (p.Ala725Ser)
c.2119G>T (p.Ala707Ser)
c.1912G>T (p.Ala638Ser)
c.2326G>T (p.Ala776Ser)
c.2320G>T (p.Ala774Ser)
c.2317G>T (p.Ala773Ser)
c.2377G>T (p.Ala793Ser)
c.2368G>T (p.Ala790Ser)
c.2287G>T (p.Ala763Ser)
c.2236G>T (p.Ala746Ser)
 gnomAD v4
14g.33800526C>ACA258719222NPAS3c.2219C>A (p.Ala740Asp)
c.2228C>A (p.Ala743Asp)
c.2119C>A
c.793+2945C>A
c.2123C>A (p.Ala708Asp)
c.2180C>A (p.Ala727Asp)
c.2129C>A (p.Ala710Asp)
c.2234C>A (p.Ala745Asp)
c.2141C>A (p.Ala714Asp)
c.2240C>A (p.Ala747Asp)
c.2270C>A (p.Ala757Asp)
c.2261C>A (p.Ala754Asp)
c.2231C>A (p.Ala744Asp)
c.2174C>A (p.Ala725Asp)
c.2120C>A (p.Ala707Asp)
c.1913C>A (p.Ala638Asp)
c.2327C>A (p.Ala776Asp)
c.2321C>A (p.Ala774Asp)
c.2318C>A (p.Ala773Asp)
c.2378C>A (p.Ala793Asp)
c.2369C>A (p.Ala790Asp)
c.2288C>A (p.Ala763Asp)
c.2237C>A (p.Ala746Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800526C=CA2128327687NPAS3c.2219C= (p.Ala740=)
c.2228C= (p.Ala743=)
c.2119C=
c.793+2945C=
c.2123C= (p.Ala708=)
c.2180C= (p.Ala727=)
c.2129C= (p.Ala710=)
c.2234C= (p.Ala745=)
c.2141C= (p.Ala714=)
c.2240C= (p.Ala747=)
c.2270C= (p.Ala757=)
c.2261C= (p.Ala754=)
c.2231C= (p.Ala744=)
c.2174C= (p.Ala725=)
c.2120C= (p.Ala707=)
c.1913C= (p.Ala638=)
c.2327C= (p.Ala776=)
c.2321C= (p.Ala774=)
c.2318C= (p.Ala773=)
c.2378C= (p.Ala793=)
c.2369C= (p.Ala790=)
c.2288C= (p.Ala763=)
c.2237C= (p.Ala746=)
14g.33800526C>GCA389414226NPAS3c.2219C>G (p.Ala740Gly)
c.2228C>G (p.Ala743Gly)
c.2119C>G
c.793+2945C>G
c.2123C>G (p.Ala708Gly)
c.2180C>G (p.Ala727Gly)
c.2129C>G (p.Ala710Gly)
c.2234C>G (p.Ala745Gly)
c.2141C>G (p.Ala714Gly)
c.2240C>G (p.Ala747Gly)
c.2270C>G (p.Ala757Gly)
c.2261C>G (p.Ala754Gly)
c.2231C>G (p.Ala744Gly)
c.2174C>G (p.Ala725Gly)
c.2120C>G (p.Ala707Gly)
c.1913C>G (p.Ala638Gly)
c.2327C>G (p.Ala776Gly)
c.2321C>G (p.Ala774Gly)
c.2318C>G (p.Ala773Gly)
c.2378C>G (p.Ala793Gly)
c.2369C>G (p.Ala790Gly)
c.2288C>G (p.Ala763Gly)
c.2237C>G (p.Ala746Gly)
 gnomAD v4
14g.33800526C>TCA389414227NPAS3c.2219C>T (p.Ala740Val)
c.2228C>T (p.Ala743Val)
c.2119C>T
c.793+2945C>T
c.2123C>T (p.Ala708Val)
c.2180C>T (p.Ala727Val)
c.2129C>T (p.Ala710Val)
c.2234C>T (p.Ala745Val)
c.2141C>T (p.Ala714Val)
c.2240C>T (p.Ala747Val)
c.2270C>T (p.Ala757Val)
c.2261C>T (p.Ala754Val)
c.2231C>T (p.Ala744Val)
c.2174C>T (p.Ala725Val)
c.2120C>T (p.Ala707Val)
c.1913C>T (p.Ala638Val)
c.2327C>T (p.Ala776Val)
c.2321C>T (p.Ala774Val)
c.2318C>T (p.Ala773Val)
c.2378C>T (p.Ala793Val)
c.2369C>T (p.Ala790Val)
c.2288C>T (p.Ala763Val)
c.2237C>T (p.Ala746Val)
 gnomAD v4
14g.33800530dupCA2624512043NPAS3c.2223dup (p.Val742ArgfsTer?)
c.2232dup (p.Val745ArgfsTer?)
c.2123dup
c.793+2949dup
c.2127dup (p.Val710ArgfsTer?)
c.2184dup (p.Val729ArgfsTer?)
c.2133dup (p.Val712ArgfsTer?)
c.2238dup (p.Val747ArgfsTer?)
c.2145dup (p.Val716ArgfsTer?)
c.2244dup (p.Val749ArgfsTer?)
c.2274dup (p.Val759ArgfsTer?)
c.2265dup (p.Val756ArgfsTer?)
c.2235dup (p.Val746ArgfsTer?)
c.2178dup (p.Val727ArgfsTer?)
c.2124dup (p.Val709ArgfsTer?)
c.1917dup (p.Val640ArgfsTer?)
c.2331dup (p.Val778ArgfsTer?)
c.2325dup (p.Val776ArgfsTer?)
c.2322dup (p.Val775ArgfsTer?)
c.2382dup (p.Val795ArgfsTer?)
c.2373dup (p.Val792ArgfsTer?)
c.2292dup (p.Val765ArgfsTer?)
c.2241dup (p.Val748ArgfsTer?)
 gnomAD v4
14g.33800530delCA613803865NPAS3c.2223del (p.Val742SerfsTer?)
c.2232del (p.Val745SerfsTer?)
c.2123del
c.793+2949del
c.2127del (p.Val710SerfsTer?)
c.2184del (p.Val729SerfsTer?)
c.2133del (p.Val712SerfsTer?)
c.2238del (p.Val747SerfsTer?)
c.2145del (p.Val716SerfsTer?)
c.2244del (p.Val749SerfsTer?)
c.2274del (p.Val759SerfsTer?)
c.2265del (p.Val756SerfsTer?)
c.2235del (p.Val746SerfsTer?)
c.2178del (p.Val727SerfsTer?)
c.2124del (p.Val709SerfsTer?)
c.1917del (p.Val640SerfsTer?)
c.2331del (p.Val778SerfsTer?)
c.2325del (p.Val776SerfsTer?)
c.2322del (p.Val775SerfsTer?)
c.2382del (p.Val795SerfsTer?)
c.2373del (p.Val792SerfsTer?)
c.2292del (p.Val765SerfsTer?)
c.2241del (p.Val748SerfsTer?)
 gnomAD v2 gnomAD v4
14g.33800527C>ACA486093323NPAS3c.2220C>A (p.Ala740=)
c.2229C>A (p.Ala743=)
c.2120C>A
c.793+2946C>A
c.2124C>A (p.Ala708=)
c.2181C>A (p.Ala727=)
c.2130C>A (p.Ala710=)
c.2235C>A (p.Ala745=)
c.2142C>A (p.Ala714=)
c.2241C>A (p.Ala747=)
c.2271C>A (p.Ala757=)
c.2262C>A (p.Ala754=)
c.2232C>A (p.Ala744=)
c.2175C>A (p.Ala725=)
c.2121C>A (p.Ala707=)
c.1914C>A (p.Ala638=)
c.2328C>A (p.Ala776=)
c.2322C>A (p.Ala774=)
c.2319C>A (p.Ala773=)
c.2379C>A (p.Ala793=)
c.2370C>A (p.Ala790=)
c.2289C>A (p.Ala763=)
c.2238C>A (p.Ala746=)
 gnomAD v4
14g.33800527C=CA2128327691NPAS3c.2220C= (p.Ala740=)
c.2229C= (p.Ala743=)
c.2120C=
c.793+2946C=
c.2124C= (p.Ala708=)
c.2181C= (p.Ala727=)
c.2130C= (p.Ala710=)
c.2235C= (p.Ala745=)
c.2142C= (p.Ala714=)
c.2241C= (p.Ala747=)
c.2271C= (p.Ala757=)
c.2262C= (p.Ala754=)
c.2232C= (p.Ala744=)
c.2175C= (p.Ala725=)
c.2121C= (p.Ala707=)
c.1914C= (p.Ala638=)
c.2328C= (p.Ala776=)
c.2322C= (p.Ala774=)
c.2319C= (p.Ala773=)
c.2379C= (p.Ala793=)
c.2370C= (p.Ala790=)
c.2289C= (p.Ala763=)
c.2238C= (p.Ala746=)
14g.33800527C>GCA486093324NPAS3c.2220C>G (p.Ala740=)
c.2229C>G (p.Ala743=)
c.2120C>G
c.793+2946C>G
c.2124C>G (p.Ala708=)
c.2181C>G (p.Ala727=)
c.2130C>G (p.Ala710=)
c.2235C>G (p.Ala745=)
c.2142C>G (p.Ala714=)
c.2241C>G (p.Ala747=)
c.2271C>G (p.Ala757=)
c.2262C>G (p.Ala754=)
c.2232C>G (p.Ala744=)
c.2175C>G (p.Ala725=)
c.2121C>G (p.Ala707=)
c.1914C>G (p.Ala638=)
c.2328C>G (p.Ala776=)
c.2322C>G (p.Ala774=)
c.2319C>G (p.Ala773=)
c.2379C>G (p.Ala793=)
c.2370C>G (p.Ala790=)
c.2289C>G (p.Ala763=)
c.2238C>G (p.Ala746=)
14g.33800527C>TCA486093321NPAS3c.2220C>T (p.Ala740=)
c.2229C>T (p.Ala743=)
c.2120C>T
c.793+2946C>T
c.2124C>T (p.Ala708=)
c.2181C>T (p.Ala727=)
c.2130C>T (p.Ala710=)
c.2235C>T (p.Ala745=)
c.2142C>T (p.Ala714=)
c.2241C>T (p.Ala747=)
c.2271C>T (p.Ala757=)
c.2262C>T (p.Ala754=)
c.2232C>T (p.Ala744=)
c.2175C>T (p.Ala725=)
c.2121C>T (p.Ala707=)
c.1914C>T (p.Ala638=)
c.2328C>T (p.Ala776=)
c.2322C>T (p.Ala774=)
c.2319C>T (p.Ala773=)
c.2379C>T (p.Ala793=)
c.2370C>T (p.Ala790=)
c.2289C>T (p.Ala763=)
c.2238C>T (p.Ala746=)
 dbSNP gnomAD v4
14g.33800528C>ACA389414228NPAS3c.2221C>A (p.Pro741Thr)
c.2230C>A (p.Pro744Thr)
c.2121C>A
c.793+2947C>A
c.2125C>A (p.Pro709Thr)
c.2182C>A (p.Pro728Thr)
c.2131C>A (p.Pro711Thr)
c.2236C>A (p.Pro746Thr)
c.2143C>A (p.Pro715Thr)
c.2242C>A (p.Pro748Thr)
c.2272C>A (p.Pro758Thr)
c.2263C>A (p.Pro755Thr)
c.2233C>A (p.Pro745Thr)
c.2176C>A (p.Pro726Thr)
c.2122C>A (p.Pro708Thr)
c.1915C>A (p.Pro639Thr)
c.2329C>A (p.Pro777Thr)
c.2323C>A (p.Pro775Thr)
c.2320C>A (p.Pro774Thr)
c.2380C>A (p.Pro794Thr)
c.2371C>A (p.Pro791Thr)
c.2290C>A (p.Pro764Thr)
c.2239C>A (p.Pro747Thr)
 dbSNP gnomAD v4
14g.33800528C=CA2128327693NPAS3c.2221C= (p.Pro741=)
c.2230C= (p.Pro744=)
c.2121C=
c.793+2947C=
c.2125C= (p.Pro709=)
c.2182C= (p.Pro728=)
c.2131C= (p.Pro711=)
c.2236C= (p.Pro746=)
c.2143C= (p.Pro715=)
c.2242C= (p.Pro748=)
c.2272C= (p.Pro758=)
c.2263C= (p.Pro755=)
c.2233C= (p.Pro745=)
c.2176C= (p.Pro726=)
c.2122C= (p.Pro708=)
c.1915C= (p.Pro639=)
c.2329C= (p.Pro777=)
c.2323C= (p.Pro775=)
c.2320C= (p.Pro774=)
c.2380C= (p.Pro794=)
c.2371C= (p.Pro791=)
c.2290C= (p.Pro764=)
c.2239C= (p.Pro747=)
14g.33800528C>GCA389414229NPAS3c.2221C>G (p.Pro741Ala)
c.2230C>G (p.Pro744Ala)
c.2121C>G
c.793+2947C>G
c.2125C>G (p.Pro709Ala)
c.2182C>G (p.Pro728Ala)
c.2131C>G (p.Pro711Ala)
c.2236C>G (p.Pro746Ala)
c.2143C>G (p.Pro715Ala)
c.2242C>G (p.Pro748Ala)
c.2272C>G (p.Pro758Ala)
c.2263C>G (p.Pro755Ala)
c.2233C>G (p.Pro745Ala)
c.2176C>G (p.Pro726Ala)
c.2122C>G (p.Pro708Ala)
c.1915C>G (p.Pro639Ala)
c.2329C>G (p.Pro777Ala)
c.2323C>G (p.Pro775Ala)
c.2320C>G (p.Pro774Ala)
c.2380C>G (p.Pro794Ala)
c.2371C>G (p.Pro791Ala)
c.2290C>G (p.Pro764Ala)
c.2239C>G (p.Pro747Ala)
14g.33800528C>TCA389414230NPAS3c.2221C>T (p.Pro741Ser)
c.2230C>T (p.Pro744Ser)
c.2121C>T
c.793+2947C>T
c.2125C>T (p.Pro709Ser)
c.2182C>T (p.Pro728Ser)
c.2131C>T (p.Pro711Ser)
c.2236C>T (p.Pro746Ser)
c.2143C>T (p.Pro715Ser)
c.2242C>T (p.Pro748Ser)
c.2272C>T (p.Pro758Ser)
c.2263C>T (p.Pro755Ser)
c.2233C>T (p.Pro745Ser)
c.2176C>T (p.Pro726Ser)
c.2122C>T (p.Pro708Ser)
c.1915C>T (p.Pro639Ser)
c.2329C>T (p.Pro777Ser)
c.2323C>T (p.Pro775Ser)
c.2320C>T (p.Pro774Ser)
c.2380C>T (p.Pro794Ser)
c.2371C>T (p.Pro791Ser)
c.2290C>T (p.Pro764Ser)
c.2239C>T (p.Pro747Ser)
 dbSNP gnomAD v4
14g.33800529C>ACA389414233NPAS3c.2222C>A (p.Pro741His)
c.2231C>A (p.Pro744His)
c.2122C>A
c.793+2948C>A
c.2126C>A (p.Pro709His)
c.2183C>A (p.Pro728His)
c.2132C>A (p.Pro711His)
c.2237C>A (p.Pro746His)
c.2144C>A (p.Pro715His)
c.2243C>A (p.Pro748His)
c.2273C>A (p.Pro758His)
c.2264C>A (p.Pro755His)
c.2234C>A (p.Pro745His)
c.2177C>A (p.Pro726His)
c.2123C>A (p.Pro708His)
c.1916C>A (p.Pro639His)
c.2330C>A (p.Pro777His)
c.2324C>A (p.Pro775His)
c.2321C>A (p.Pro774His)
c.2381C>A (p.Pro794His)
c.2372C>A (p.Pro791His)
c.2291C>A (p.Pro764His)
c.2240C>A (p.Pro747His)
 gnomAD v4
14g.33800529C=CA2128327695NPAS3c.2222C= (p.Pro741=)
c.2231C= (p.Pro744=)
c.2122C=
c.793+2948C=
c.2126C= (p.Pro709=)
c.2183C= (p.Pro728=)
c.2132C= (p.Pro711=)
c.2237C= (p.Pro746=)
c.2144C= (p.Pro715=)
c.2243C= (p.Pro748=)
c.2273C= (p.Pro758=)
c.2264C= (p.Pro755=)
c.2234C= (p.Pro745=)
c.2177C= (p.Pro726=)
c.2123C= (p.Pro708=)
c.1916C= (p.Pro639=)
c.2330C= (p.Pro777=)
c.2324C= (p.Pro775=)
c.2321C= (p.Pro774=)
c.2381C= (p.Pro794=)
c.2372C= (p.Pro791=)
c.2291C= (p.Pro764=)
c.2240C= (p.Pro747=)
14g.33800529C>GCA389414231NPAS3c.2222C>G (p.Pro741Arg)
c.2231C>G (p.Pro744Arg)
c.2122C>G
c.793+2948C>G
c.2126C>G (p.Pro709Arg)
c.2183C>G (p.Pro728Arg)
c.2132C>G (p.Pro711Arg)
c.2237C>G (p.Pro746Arg)
c.2144C>G (p.Pro715Arg)
c.2243C>G (p.Pro748Arg)
c.2273C>G (p.Pro758Arg)
c.2264C>G (p.Pro755Arg)
c.2234C>G (p.Pro745Arg)
c.2177C>G (p.Pro726Arg)
c.2123C>G (p.Pro708Arg)
c.1916C>G (p.Pro639Arg)
c.2330C>G (p.Pro777Arg)
c.2324C>G (p.Pro775Arg)
c.2321C>G (p.Pro774Arg)
c.2381C>G (p.Pro794Arg)
c.2372C>G (p.Pro791Arg)
c.2291C>G (p.Pro764Arg)
c.2240C>G (p.Pro747Arg)
 gnomAD v4
14g.33800529C>TCA389414232NPAS3c.2222C>T (p.Pro741Leu)
c.2231C>T (p.Pro744Leu)
c.2122C>T
c.793+2948C>T
c.2126C>T (p.Pro709Leu)
c.2183C>T (p.Pro728Leu)
c.2132C>T (p.Pro711Leu)
c.2237C>T (p.Pro746Leu)
c.2144C>T (p.Pro715Leu)
c.2243C>T (p.Pro748Leu)
c.2273C>T (p.Pro758Leu)
c.2264C>T (p.Pro755Leu)
c.2234C>T (p.Pro745Leu)
c.2177C>T (p.Pro726Leu)
c.2123C>T (p.Pro708Leu)
c.1916C>T (p.Pro639Leu)
c.2330C>T (p.Pro777Leu)
c.2324C>T (p.Pro775Leu)
c.2321C>T (p.Pro774Leu)
c.2381C>T (p.Pro794Leu)
c.2372C>T (p.Pro791Leu)
c.2291C>T (p.Pro764Leu)
c.2240C>T (p.Pro747Leu)
 dbSNP gnomAD v3 gnomAD v4
14g.33800530C>ACA486093327NPAS3c.2223C>A (p.Pro741=)
c.2232C>A (p.Pro744=)
c.2123C>A
c.793+2949C>A
c.2127C>A (p.Pro709=)
c.2184C>A (p.Pro728=)
c.2133C>A (p.Pro711=)
c.2238C>A (p.Pro746=)
c.2145C>A (p.Pro715=)
c.2244C>A (p.Pro748=)
c.2274C>A (p.Pro758=)
c.2265C>A (p.Pro755=)
c.2235C>A (p.Pro745=)
c.2178C>A (p.Pro726=)
c.2124C>A (p.Pro708=)
c.1917C>A (p.Pro639=)
c.2331C>A (p.Pro777=)
c.2325C>A (p.Pro775=)
c.2322C>A (p.Pro774=)
c.2382C>A (p.Pro794=)
c.2373C>A (p.Pro791=)
c.2292C>A (p.Pro764=)
c.2241C>A (p.Pro747=)
 gnomAD v4
14g.33800530C=CA2128327697NPAS3c.2223C= (p.Pro741=)
c.2232C= (p.Pro744=)
c.2123C=
c.793+2949C=
c.2127C= (p.Pro709=)
c.2184C= (p.Pro728=)
c.2133C= (p.Pro711=)
c.2238C= (p.Pro746=)
c.2145C= (p.Pro715=)
c.2244C= (p.Pro748=)
c.2274C= (p.Pro758=)
c.2265C= (p.Pro755=)
c.2235C= (p.Pro745=)
c.2178C= (p.Pro726=)
c.2124C= (p.Pro708=)
c.1917C= (p.Pro639=)
c.2331C= (p.Pro777=)
c.2325C= (p.Pro775=)
c.2322C= (p.Pro774=)
c.2382C= (p.Pro794=)
c.2373C= (p.Pro791=)
c.2292C= (p.Pro764=)
c.2241C= (p.Pro747=)
14g.33800530C>GCA486093329NPAS3c.2223C>G (p.Pro741=)
c.2232C>G (p.Pro744=)
c.2123C>G
c.793+2949C>G
c.2127C>G (p.Pro709=)
c.2184C>G (p.Pro728=)
c.2133C>G (p.Pro711=)
c.2238C>G (p.Pro746=)
c.2145C>G (p.Pro715=)
c.2244C>G (p.Pro748=)
c.2274C>G (p.Pro758=)
c.2265C>G (p.Pro755=)
c.2235C>G (p.Pro745=)
c.2178C>G (p.Pro726=)
c.2124C>G (p.Pro708=)
c.1917C>G (p.Pro639=)
c.2331C>G (p.Pro777=)
c.2325C>G (p.Pro775=)
c.2322C>G (p.Pro774=)
c.2382C>G (p.Pro794=)
c.2373C>G (p.Pro791=)
c.2292C>G (p.Pro764=)
c.2241C>G (p.Pro747=)
14g.33800530C>TCA486093331NPAS3c.2223C>T (p.Pro741=)
c.2232C>T (p.Pro744=)
c.2123C>T
c.793+2949C>T
c.2127C>T (p.Pro709=)
c.2184C>T (p.Pro728=)
c.2133C>T (p.Pro711=)
c.2238C>T (p.Pro746=)
c.2145C>T (p.Pro715=)
c.2244C>T (p.Pro748=)
c.2274C>T (p.Pro758=)
c.2265C>T (p.Pro755=)
c.2235C>T (p.Pro745=)
c.2178C>T (p.Pro726=)
c.2124C>T (p.Pro708=)
c.1917C>T (p.Pro639=)
c.2331C>T (p.Pro777=)
c.2325C>T (p.Pro775=)
c.2322C>T (p.Pro774=)
c.2382C>T (p.Pro794=)
c.2373C>T (p.Pro791=)
c.2292C>T (p.Pro764=)
c.2241C>T (p.Pro747=)
 dbSNP gnomAD v2 gnomAD v4
14g.33800532_33800534dupCA2624512044NPAS3c.2225_2227dup (p.Val742_Ala743insVal)
c.2234_2236dup (p.Val745_Ala746insVal)
c.2125_2127dup
c.793+2951_793+2953dup
c.2129_2131dup (p.Val710_Ala711insVal)
c.2186_2188dup (p.Val729_Ala730insVal)
c.2135_2137dup (p.Val712_Ala713insVal)
c.2240_2242dup (p.Val747_Ala748insVal)
c.2147_2149dup (p.Val716_Ala717insVal)
c.2246_2248dup (p.Val749_Ala750insVal)
c.2276_2278dup (p.Val759_Ala760insVal)
c.2267_2269dup (p.Val756_Ala757insVal)
c.2237_2239dup (p.Val746_Ala747insVal)
c.2180_2182dup (p.Val727_Ala728insVal)
c.2126_2128dup (p.Val709_Ala710insVal)
c.1919_1921dup (p.Val640_Ala641insVal)
c.2333_2335dup (p.Val778_Ala779insVal)
c.2327_2329dup (p.Val776_Ala777insVal)
c.2324_2326dup (p.Val775_Ala776insVal)
c.2384_2386dup (p.Val795_Ala796insVal)
c.2375_2377dup (p.Val792_Ala793insVal)
c.2294_2296dup (p.Val765_Ala766insVal)
c.2243_2245dup (p.Val748_Ala749insVal)
 gnomAD v4
14g.33800531G>ACA258719224NPAS3c.2224G>A (p.Val742Ile)
c.2233G>A (p.Val745Ile)
c.2124G>A
c.793+2950G>A
c.2128G>A (p.Val710Ile)
c.2185G>A (p.Val729Ile)
c.2134G>A (p.Val712Ile)
c.2239G>A (p.Val747Ile)
c.2146G>A (p.Val716Ile)
c.2245G>A (p.Val749Ile)
c.2275G>A (p.Val759Ile)
c.2266G>A (p.Val756Ile)
c.2236G>A (p.Val746Ile)
c.2179G>A (p.Val727Ile)
c.2125G>A (p.Val709Ile)
c.1918G>A (p.Val640Ile)
c.2332G>A (p.Val778Ile)
c.2326G>A (p.Val776Ile)
c.2323G>A (p.Val775Ile)
c.2383G>A (p.Val795Ile)
c.2374G>A (p.Val792Ile)
c.2293G>A (p.Val765Ile)
c.2242G>A (p.Val748Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800531G>CCA389414234NPAS3c.2224G>C (p.Val742Leu)
c.2233G>C (p.Val745Leu)
c.2124G>C
c.793+2950G>C
c.2128G>C (p.Val710Leu)
c.2185G>C (p.Val729Leu)
c.2134G>C (p.Val712Leu)
c.2239G>C (p.Val747Leu)
c.2146G>C (p.Val716Leu)
c.2245G>C (p.Val749Leu)
c.2275G>C (p.Val759Leu)
c.2266G>C (p.Val756Leu)
c.2236G>C (p.Val746Leu)
c.2179G>C (p.Val727Leu)
c.2125G>C (p.Val709Leu)
c.1918G>C (p.Val640Leu)
c.2332G>C (p.Val778Leu)
c.2326G>C (p.Val776Leu)
c.2323G>C (p.Val775Leu)
c.2383G>C (p.Val795Leu)
c.2374G>C (p.Val792Leu)
c.2293G>C (p.Val765Leu)
c.2242G>C (p.Val748Leu)
 gnomAD v4
14g.33800531G=CA2128327701NPAS3c.2224G= (p.Val742=)
c.2233G= (p.Val745=)
c.2124G=
c.793+2950G=
c.2128G= (p.Val710=)
c.2185G= (p.Val729=)
c.2134G= (p.Val712=)
c.2239G= (p.Val747=)
c.2146G= (p.Val716=)
c.2245G= (p.Val749=)
c.2275G= (p.Val759=)
c.2266G= (p.Val756=)
c.2236G= (p.Val746=)
c.2179G= (p.Val727=)
c.2125G= (p.Val709=)
c.1918G= (p.Val640=)
c.2332G= (p.Val778=)
c.2326G= (p.Val776=)
c.2323G= (p.Val775=)
c.2383G= (p.Val795=)
c.2374G= (p.Val792=)
c.2293G= (p.Val765=)
c.2242G= (p.Val748=)
14g.33800531G>TCA389414235NPAS3c.2224G>T (p.Val742Phe)
c.2233G>T (p.Val745Phe)
c.2124G>T
c.793+2950G>T
c.2128G>T (p.Val710Phe)
c.2185G>T (p.Val729Phe)
c.2134G>T (p.Val712Phe)
c.2239G>T (p.Val747Phe)
c.2146G>T (p.Val716Phe)
c.2245G>T (p.Val749Phe)
c.2275G>T (p.Val759Phe)
c.2266G>T (p.Val756Phe)
c.2236G>T (p.Val746Phe)
c.2179G>T (p.Val727Phe)
c.2125G>T (p.Val709Phe)
c.1918G>T (p.Val640Phe)
c.2332G>T (p.Val778Phe)
c.2326G>T (p.Val776Phe)
c.2323G>T (p.Val775Phe)
c.2383G>T (p.Val795Phe)
c.2374G>T (p.Val792Phe)
c.2293G>T (p.Val765Phe)
c.2242G>T (p.Val748Phe)
 gnomAD v4
14g.33800532delCA2575504027NPAS3c.2225del (p.Val742AlafsTer?)
c.2234del (p.Val745AlafsTer?)
c.2125del
c.793+2951del
c.2129del (p.Val710AlafsTer?)
c.2186del (p.Val729AlafsTer?)
c.2135del (p.Val712AlafsTer?)
c.2240del (p.Val747AlafsTer?)
c.2147del (p.Val716AlafsTer?)
c.2246del (p.Val749AlafsTer?)
c.2276del (p.Val759AlafsTer?)
c.2267del (p.Val756AlafsTer?)
c.2237del (p.Val746AlafsTer?)
c.2180del (p.Val727AlafsTer?)
c.2126del (p.Val709AlafsTer?)
c.1919del (p.Val640AlafsTer?)
c.2333del (p.Val778AlafsTer?)
c.2327del (p.Val776AlafsTer?)
c.2324del (p.Val775AlafsTer?)
c.2384del (p.Val795AlafsTer?)
c.2375del (p.Val792AlafsTer?)
c.2294del (p.Val765AlafsTer?)
c.2243del (p.Val748AlafsTer?)
14g.33800532T>ACA389414236NPAS3c.2225T>A (p.Val742Asp)
c.2234T>A (p.Val745Asp)
c.2125T>A
c.793+2951T>A
c.2129T>A (p.Val710Asp)
c.2186T>A (p.Val729Asp)
c.2135T>A (p.Val712Asp)
c.2240T>A (p.Val747Asp)
c.2147T>A (p.Val716Asp)
c.2246T>A (p.Val749Asp)
c.2276T>A (p.Val759Asp)
c.2267T>A (p.Val756Asp)
c.2237T>A (p.Val746Asp)
c.2180T>A (p.Val727Asp)
c.2126T>A (p.Val709Asp)
c.1919T>A (p.Val640Asp)
c.2333T>A (p.Val778Asp)
c.2327T>A (p.Val776Asp)
c.2324T>A (p.Val775Asp)
c.2384T>A (p.Val795Asp)
c.2375T>A (p.Val792Asp)
c.2294T>A (p.Val765Asp)
c.2243T>A (p.Val748Asp)
 gnomAD v4
14g.33800532T>CCA389414237NPAS3c.2225T>C (p.Val742Ala)
c.2234T>C (p.Val745Ala)
c.2125T>C
c.793+2951T>C
c.2129T>C (p.Val710Ala)
c.2186T>C (p.Val729Ala)
c.2135T>C (p.Val712Ala)
c.2240T>C (p.Val747Ala)
c.2147T>C (p.Val716Ala)
c.2246T>C (p.Val749Ala)
c.2276T>C (p.Val759Ala)
c.2267T>C (p.Val756Ala)
c.2237T>C (p.Val746Ala)
c.2180T>C (p.Val727Ala)
c.2126T>C (p.Val709Ala)
c.1919T>C (p.Val640Ala)
c.2333T>C (p.Val778Ala)
c.2327T>C (p.Val776Ala)
c.2324T>C (p.Val775Ala)
c.2384T>C (p.Val795Ala)
c.2375T>C (p.Val792Ala)
c.2294T>C (p.Val765Ala)
c.2243T>C (p.Val748Ala)
 gnomAD v4
14g.33800532T>GCA389414238NPAS3c.2225T>G (p.Val742Gly)
c.2234T>G (p.Val745Gly)
c.2125T>G
c.793+2951T>G
c.2129T>G (p.Val710Gly)
c.2186T>G (p.Val729Gly)
c.2135T>G (p.Val712Gly)
c.2240T>G (p.Val747Gly)
c.2147T>G (p.Val716Gly)
c.2246T>G (p.Val749Gly)
c.2276T>G (p.Val759Gly)
c.2267T>G (p.Val756Gly)
c.2237T>G (p.Val746Gly)
c.2180T>G (p.Val727Gly)
c.2126T>G (p.Val709Gly)
c.1919T>G (p.Val640Gly)
c.2333T>G (p.Val778Gly)
c.2327T>G (p.Val776Gly)
c.2324T>G (p.Val775Gly)
c.2384T>G (p.Val795Gly)
c.2375T>G (p.Val792Gly)
c.2294T>G (p.Val765Gly)
c.2243T>G (p.Val748Gly)
14g.33800533C>ACA486093334NPAS3c.2226C>A (p.Val742=)
c.2235C>A (p.Val745=)
c.2126C>A
c.793+2952C>A
c.2130C>A (p.Val710=)
c.2187C>A (p.Val729=)
c.2136C>A (p.Val712=)
c.2241C>A (p.Val747=)
c.2148C>A (p.Val716=)
c.2247C>A (p.Val749=)
c.2277C>A (p.Val759=)
c.2268C>A (p.Val756=)
c.2238C>A (p.Val746=)
c.2181C>A (p.Val727=)
c.2127C>A (p.Val709=)
c.1920C>A (p.Val640=)
c.2334C>A (p.Val778=)
c.2328C>A (p.Val776=)
c.2325C>A (p.Val775=)
c.2385C>A (p.Val795=)
c.2376C>A (p.Val792=)
c.2295C>A (p.Val765=)
c.2244C>A (p.Val748=)
 gnomAD v4
14g.33800533C>GCA486093336NPAS3c.2226C>G (p.Val742=)
c.2235C>G (p.Val745=)
c.2126C>G
c.793+2952C>G
c.2130C>G (p.Val710=)
c.2187C>G (p.Val729=)
c.2136C>G (p.Val712=)
c.2241C>G (p.Val747=)
c.2148C>G (p.Val716=)
c.2247C>G (p.Val749=)
c.2277C>G (p.Val759=)
c.2268C>G (p.Val756=)
c.2238C>G (p.Val746=)
c.2181C>G (p.Val727=)
c.2127C>G (p.Val709=)
c.1920C>G (p.Val640=)
c.2334C>G (p.Val778=)
c.2328C>G (p.Val776=)
c.2325C>G (p.Val775=)
c.2385C>G (p.Val795=)
c.2376C>G (p.Val792=)
c.2295C>G (p.Val765=)
c.2244C>G (p.Val748=)
14g.33800533C>TCA486093338NPAS3c.2226C>T (p.Val742=)
c.2235C>T (p.Val745=)
c.2126C>T
c.793+2952C>T
c.2130C>T (p.Val710=)
c.2187C>T (p.Val729=)
c.2136C>T (p.Val712=)
c.2241C>T (p.Val747=)
c.2148C>T (p.Val716=)
c.2247C>T (p.Val749=)
c.2277C>T (p.Val759=)
c.2268C>T (p.Val756=)
c.2238C>T (p.Val746=)
c.2181C>T (p.Val727=)
c.2127C>T (p.Val709=)
c.1920C>T (p.Val640=)
c.2334C>T (p.Val778=)
c.2328C>T (p.Val776=)
c.2325C>T (p.Val775=)
c.2385C>T (p.Val795=)
c.2376C>T (p.Val792=)
c.2295C>T (p.Val765=)
c.2244C>T (p.Val748=)
 gnomAD v4
14g.33800534G>ACA389414239NPAS3c.2227G>A (p.Ala743Thr)
c.2236G>A (p.Ala746Thr)
c.2127G>A
c.793+2953G>A
c.2131G>A (p.Ala711Thr)
c.2188G>A (p.Ala730Thr)
c.2137G>A (p.Ala713Thr)
c.2242G>A (p.Ala748Thr)
c.2149G>A (p.Ala717Thr)
c.2248G>A (p.Ala750Thr)
c.2278G>A (p.Ala760Thr)
c.2269G>A (p.Ala757Thr)
c.2239G>A (p.Ala747Thr)
c.2182G>A (p.Ala728Thr)
c.2128G>A (p.Ala710Thr)
c.1921G>A (p.Ala641Thr)
c.2335G>A (p.Ala779Thr)
c.2329G>A (p.Ala777Thr)
c.2326G>A (p.Ala776Thr)
c.2386G>A (p.Ala796Thr)
c.2377G>A (p.Ala793Thr)
c.2296G>A (p.Ala766Thr)
c.2245G>A (p.Ala749Thr)
 dbSNP gnomAD v2 gnomAD v4
14g.33800534G>CCA389414240NPAS3c.2227G>C (p.Ala743Pro)
c.2236G>C (p.Ala746Pro)
c.2127G>C
c.793+2953G>C
c.2131G>C (p.Ala711Pro)
c.2188G>C (p.Ala730Pro)
c.2137G>C (p.Ala713Pro)
c.2242G>C (p.Ala748Pro)
c.2149G>C (p.Ala717Pro)
c.2248G>C (p.Ala750Pro)
c.2278G>C (p.Ala760Pro)
c.2269G>C (p.Ala757Pro)
c.2239G>C (p.Ala747Pro)
c.2182G>C (p.Ala728Pro)
c.2128G>C (p.Ala710Pro)
c.1921G>C (p.Ala641Pro)
c.2335G>C (p.Ala779Pro)
c.2329G>C (p.Ala777Pro)
c.2326G>C (p.Ala776Pro)
c.2386G>C (p.Ala796Pro)
c.2377G>C (p.Ala793Pro)
c.2296G>C (p.Ala766Pro)
c.2245G>C (p.Ala749Pro)
 gnomAD v4
14g.33800534G=CA2128327704NPAS3c.2227G= (p.Ala743=)
c.2236G= (p.Ala746=)
c.2127G=
c.793+2953G=
c.2131G= (p.Ala711=)
c.2188G= (p.Ala730=)
c.2137G= (p.Ala713=)
c.2242G= (p.Ala748=)
c.2149G= (p.Ala717=)
c.2248G= (p.Ala750=)
c.2278G= (p.Ala760=)
c.2269G= (p.Ala757=)
c.2239G= (p.Ala747=)
c.2182G= (p.Ala728=)
c.2128G= (p.Ala710=)
c.1921G= (p.Ala641=)
c.2335G= (p.Ala779=)
c.2329G= (p.Ala777=)
c.2326G= (p.Ala776=)
c.2386G= (p.Ala796=)
c.2377G= (p.Ala793=)
c.2296G= (p.Ala766=)
c.2245G= (p.Ala749=)
14g.33800534G>TCA389414241NPAS3c.2227G>T (p.Ala743Ser)
c.2236G>T (p.Ala746Ser)
c.2127G>T
c.793+2953G>T
c.2131G>T (p.Ala711Ser)
c.2188G>T (p.Ala730Ser)
c.2137G>T (p.Ala713Ser)
c.2242G>T (p.Ala748Ser)
c.2149G>T (p.Ala717Ser)
c.2248G>T (p.Ala750Ser)
c.2278G>T (p.Ala760Ser)
c.2269G>T (p.Ala757Ser)
c.2239G>T (p.Ala747Ser)
c.2182G>T (p.Ala728Ser)
c.2128G>T (p.Ala710Ser)
c.1921G>T (p.Ala641Ser)
c.2335G>T (p.Ala779Ser)
c.2329G>T (p.Ala777Ser)
c.2326G>T (p.Ala776Ser)
c.2386G>T (p.Ala796Ser)
c.2377G>T (p.Ala793Ser)
c.2296G>T (p.Ala766Ser)
c.2245G>T (p.Ala749Ser)
 gnomAD v4
14g.33800535C>ACA389414242NPAS3c.2228C>A (p.Ala743Asp)
c.2237C>A (p.Ala746Asp)
c.2128C>A
c.793+2954C>A
c.2132C>A (p.Ala711Asp)
c.2189C>A (p.Ala730Asp)
c.2138C>A (p.Ala713Asp)
c.2243C>A (p.Ala748Asp)
c.2150C>A (p.Ala717Asp)
c.2249C>A (p.Ala750Asp)
c.2279C>A (p.Ala760Asp)
c.2270C>A (p.Ala757Asp)
c.2240C>A (p.Ala747Asp)
c.2183C>A (p.Ala728Asp)
c.2129C>A (p.Ala710Asp)
c.1922C>A (p.Ala641Asp)
c.2336C>A (p.Ala779Asp)
c.2330C>A (p.Ala777Asp)
c.2327C>A (p.Ala776Asp)
c.2387C>A (p.Ala796Asp)
c.2378C>A (p.Ala793Asp)
c.2297C>A (p.Ala766Asp)
c.2246C>A (p.Ala749Asp)
 gnomAD v4
14g.33800535C=CA2128327706NPAS3c.2228C= (p.Ala743=)
c.2237C= (p.Ala746=)
c.2128C=
c.793+2954C=
c.2132C= (p.Ala711=)
c.2189C= (p.Ala730=)
c.2138C= (p.Ala713=)
c.2243C= (p.Ala748=)
c.2150C= (p.Ala717=)
c.2249C= (p.Ala750=)
c.2279C= (p.Ala760=)
c.2270C= (p.Ala757=)
c.2240C= (p.Ala747=)
c.2183C= (p.Ala728=)
c.2129C= (p.Ala710=)
c.1922C= (p.Ala641=)
c.2336C= (p.Ala779=)
c.2330C= (p.Ala777=)
c.2327C= (p.Ala776=)
c.2387C= (p.Ala796=)
c.2378C= (p.Ala793=)
c.2297C= (p.Ala766=)
c.2246C= (p.Ala749=)
14g.33800535C>GCA389414243NPAS3c.2228C>G (p.Ala743Gly)
c.2237C>G (p.Ala746Gly)
c.2128C>G
c.793+2954C>G
c.2132C>G (p.Ala711Gly)
c.2189C>G (p.Ala730Gly)
c.2138C>G (p.Ala713Gly)
c.2243C>G (p.Ala748Gly)
c.2150C>G (p.Ala717Gly)
c.2249C>G (p.Ala750Gly)
c.2279C>G (p.Ala760Gly)
c.2270C>G (p.Ala757Gly)
c.2240C>G (p.Ala747Gly)
c.2183C>G (p.Ala728Gly)
c.2129C>G (p.Ala710Gly)
c.1922C>G (p.Ala641Gly)
c.2336C>G (p.Ala779Gly)
c.2330C>G (p.Ala777Gly)
c.2327C>G (p.Ala776Gly)
c.2387C>G (p.Ala796Gly)
c.2378C>G (p.Ala793Gly)
c.2297C>G (p.Ala766Gly)
c.2246C>G (p.Ala749Gly)
14g.33800535C>TCA389414244NPAS3c.2228C>T (p.Ala743Val)
c.2237C>T (p.Ala746Val)
c.2128C>T
c.793+2954C>T
c.2132C>T (p.Ala711Val)
c.2189C>T (p.Ala730Val)
c.2138C>T (p.Ala713Val)
c.2243C>T (p.Ala748Val)
c.2150C>T (p.Ala717Val)
c.2249C>T (p.Ala750Val)
c.2279C>T (p.Ala760Val)
c.2270C>T (p.Ala757Val)
c.2240C>T (p.Ala747Val)
c.2183C>T (p.Ala728Val)
c.2129C>T (p.Ala710Val)
c.1922C>T (p.Ala641Val)
c.2336C>T (p.Ala779Val)
c.2330C>T (p.Ala777Val)
c.2327C>T (p.Ala776Val)
c.2387C>T (p.Ala796Val)
c.2378C>T (p.Ala793Val)
c.2297C>T (p.Ala766Val)
c.2246C>T (p.Ala749Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800536C>ACA486093342NPAS3c.2229C>A (p.Ala743=)
c.2238C>A (p.Ala746=)
c.2129C>A
c.793+2955C>A
c.2133C>A (p.Ala711=)
c.2190C>A (p.Ala730=)
c.2139C>A (p.Ala713=)
c.2244C>A (p.Ala748=)
c.2151C>A (p.Ala717=)
c.2250C>A (p.Ala750=)
c.2280C>A (p.Ala760=)
c.2271C>A (p.Ala757=)
c.2241C>A (p.Ala747=)
c.2184C>A (p.Ala728=)
c.2130C>A (p.Ala710=)
c.1923C>A (p.Ala641=)
c.2337C>A (p.Ala779=)
c.2331C>A (p.Ala777=)
c.2328C>A (p.Ala776=)
c.2388C>A (p.Ala796=)
c.2379C>A (p.Ala793=)
c.2298C>A (p.Ala766=)
c.2247C>A (p.Ala749=)
 gnomAD v4
14g.33800536C>GCA486093344NPAS3c.2229C>G (p.Ala743=)
c.2238C>G (p.Ala746=)
c.2129C>G
c.793+2955C>G
c.2133C>G (p.Ala711=)
c.2190C>G (p.Ala730=)
c.2139C>G (p.Ala713=)
c.2244C>G (p.Ala748=)
c.2151C>G (p.Ala717=)
c.2250C>G (p.Ala750=)
c.2280C>G (p.Ala760=)
c.2271C>G (p.Ala757=)
c.2241C>G (p.Ala747=)
c.2184C>G (p.Ala728=)
c.2130C>G (p.Ala710=)
c.1923C>G (p.Ala641=)
c.2337C>G (p.Ala779=)
c.2331C>G (p.Ala777=)
c.2328C>G (p.Ala776=)
c.2388C>G (p.Ala796=)
c.2379C>G (p.Ala793=)
c.2298C>G (p.Ala766=)
c.2247C>G (p.Ala749=)
14g.33800536C>TCA486093346NPAS3c.2229C>T (p.Ala743=)
c.2238C>T (p.Ala746=)
c.2129C>T
c.793+2955C>T
c.2133C>T (p.Ala711=)
c.2190C>T (p.Ala730=)
c.2139C>T (p.Ala713=)
c.2244C>T (p.Ala748=)
c.2151C>T (p.Ala717=)
c.2250C>T (p.Ala750=)
c.2280C>T (p.Ala760=)
c.2271C>T (p.Ala757=)
c.2241C>T (p.Ala747=)
c.2184C>T (p.Ala728=)
c.2130C>T (p.Ala710=)
c.1923C>T (p.Ala641=)
c.2337C>T (p.Ala779=)
c.2331C>T (p.Ala777=)
c.2328C>T (p.Ala776=)
c.2388C>T (p.Ala796=)
c.2379C>T (p.Ala793=)
c.2298C>T (p.Ala766=)
c.2247C>T (p.Ala749=)
 gnomAD v4
14g.33800537T>ACA389414245NPAS3c.2230T>A (p.Ser744Thr)
c.2239T>A (p.Ser747Thr)
c.2130T>A
c.793+2956T>A
c.2134T>A (p.Ser712Thr)
c.2191T>A (p.Ser731Thr)
c.2140T>A (p.Ser714Thr)
c.2245T>A (p.Ser749Thr)
c.2152T>A (p.Ser718Thr)
c.2251T>A (p.Ser751Thr)
c.2281T>A (p.Ser761Thr)
c.2272T>A (p.Ser758Thr)
c.2242T>A (p.Ser748Thr)
c.2185T>A (p.Ser729Thr)
c.2131T>A (p.Ser711Thr)
c.1924T>A (p.Ser642Thr)
c.2338T>A (p.Ser780Thr)
c.2332T>A (p.Ser778Thr)
c.2329T>A (p.Ser777Thr)
c.2389T>A (p.Ser797Thr)
c.2380T>A (p.Ser794Thr)
c.2299T>A (p.Ser767Thr)
c.2248T>A (p.Ser750Thr)
 gnomAD v4
14g.33800537T>CCA389414247NPAS3c.2230T>C (p.Ser744Pro)
c.2239T>C (p.Ser747Pro)
c.2130T>C
c.793+2956T>C
c.2134T>C (p.Ser712Pro)
c.2191T>C (p.Ser731Pro)
c.2140T>C (p.Ser714Pro)
c.2245T>C (p.Ser749Pro)
c.2152T>C (p.Ser718Pro)
c.2251T>C (p.Ser751Pro)
c.2281T>C (p.Ser761Pro)
c.2272T>C (p.Ser758Pro)
c.2242T>C (p.Ser748Pro)
c.2185T>C (p.Ser729Pro)
c.2131T>C (p.Ser711Pro)
c.1924T>C (p.Ser642Pro)
c.2338T>C (p.Ser780Pro)
c.2332T>C (p.Ser778Pro)
c.2329T>C (p.Ser777Pro)
c.2389T>C (p.Ser797Pro)
c.2380T>C (p.Ser794Pro)
c.2299T>C (p.Ser767Pro)
c.2248T>C (p.Ser750Pro)
 gnomAD v4
14g.33800537T>GCA389414246NPAS3c.2230T>G (p.Ser744Ala)
c.2239T>G (p.Ser747Ala)
c.2130T>G
c.793+2956T>G
c.2134T>G (p.Ser712Ala)
c.2191T>G (p.Ser731Ala)
c.2140T>G (p.Ser714Ala)
c.2245T>G (p.Ser749Ala)
c.2152T>G (p.Ser718Ala)
c.2251T>G (p.Ser751Ala)
c.2281T>G (p.Ser761Ala)
c.2272T>G (p.Ser758Ala)
c.2242T>G (p.Ser748Ala)
c.2185T>G (p.Ser729Ala)
c.2131T>G (p.Ser711Ala)
c.1924T>G (p.Ser642Ala)
c.2338T>G (p.Ser780Ala)
c.2332T>G (p.Ser778Ala)
c.2329T>G (p.Ser777Ala)
c.2389T>G (p.Ser797Ala)
c.2380T>G (p.Ser794Ala)
c.2299T>G (p.Ser767Ala)
c.2248T>G (p.Ser750Ala)
14g.33800538C>ACA389414248NPAS3c.2231C>A (p.Ser744Tyr)
c.2240C>A (p.Ser747Tyr)
c.2131C>A
c.793+2957C>A
c.2135C>A (p.Ser712Tyr)
c.2192C>A (p.Ser731Tyr)
c.2141C>A (p.Ser714Tyr)
c.2246C>A (p.Ser749Tyr)
c.2153C>A (p.Ser718Tyr)
c.2252C>A (p.Ser751Tyr)
c.2282C>A (p.Ser761Tyr)
c.2273C>A (p.Ser758Tyr)
c.2243C>A (p.Ser748Tyr)
c.2186C>A (p.Ser729Tyr)
c.2132C>A (p.Ser711Tyr)
c.1925C>A (p.Ser642Tyr)
c.2339C>A (p.Ser780Tyr)
c.2333C>A (p.Ser778Tyr)
c.2330C>A (p.Ser777Tyr)
c.2390C>A (p.Ser797Tyr)
c.2381C>A (p.Ser794Tyr)
c.2300C>A (p.Ser767Tyr)
c.2249C>A (p.Ser750Tyr)
 gnomAD v4
14g.33800538C>GCA389414250NPAS3c.2231C>G (p.Ser744Cys)
c.2240C>G (p.Ser747Cys)
c.2131C>G
c.793+2957C>G
c.2135C>G (p.Ser712Cys)
c.2192C>G (p.Ser731Cys)
c.2141C>G (p.Ser714Cys)
c.2246C>G (p.Ser749Cys)
c.2153C>G (p.Ser718Cys)
c.2252C>G (p.Ser751Cys)
c.2282C>G (p.Ser761Cys)
c.2273C>G (p.Ser758Cys)
c.2243C>G (p.Ser748Cys)
c.2186C>G (p.Ser729Cys)
c.2132C>G (p.Ser711Cys)
c.1925C>G (p.Ser642Cys)
c.2339C>G (p.Ser780Cys)
c.2333C>G (p.Ser778Cys)
c.2330C>G (p.Ser777Cys)
c.2390C>G (p.Ser797Cys)
c.2381C>G (p.Ser794Cys)
c.2300C>G (p.Ser767Cys)
c.2249C>G (p.Ser750Cys)
14g.33800538C>TCA389414249NPAS3c.2231C>T (p.Ser744Phe)
c.2240C>T (p.Ser747Phe)
c.2131C>T
c.793+2957C>T
c.2135C>T (p.Ser712Phe)
c.2192C>T (p.Ser731Phe)
c.2141C>T (p.Ser714Phe)
c.2246C>T (p.Ser749Phe)
c.2153C>T (p.Ser718Phe)
c.2252C>T (p.Ser751Phe)
c.2282C>T (p.Ser761Phe)
c.2273C>T (p.Ser758Phe)
c.2243C>T (p.Ser748Phe)
c.2186C>T (p.Ser729Phe)
c.2132C>T (p.Ser711Phe)
c.1925C>T (p.Ser642Phe)
c.2339C>T (p.Ser780Phe)
c.2333C>T (p.Ser778Phe)
c.2330C>T (p.Ser777Phe)
c.2390C>T (p.Ser797Phe)
c.2381C>T (p.Ser794Phe)
c.2300C>T (p.Ser767Phe)
c.2249C>T (p.Ser750Phe)
 gnomAD v4
14g.33800539C>ACA486093348NPAS3c.2232C>A (p.Ser744=)
c.2241C>A (p.Ser747=)
c.2132C>A
c.793+2958C>A
c.2136C>A (p.Ser712=)
c.2193C>A (p.Ser731=)
c.2142C>A (p.Ser714=)
c.2247C>A (p.Ser749=)
c.2154C>A (p.Ser718=)
c.2253C>A (p.Ser751=)
c.2283C>A (p.Ser761=)
c.2274C>A (p.Ser758=)
c.2244C>A (p.Ser748=)
c.2187C>A (p.Ser729=)
c.2133C>A (p.Ser711=)
c.1926C>A (p.Ser642=)
c.2340C>A (p.Ser780=)
c.2334C>A (p.Ser778=)
c.2331C>A (p.Ser777=)
c.2391C>A (p.Ser797=)
c.2382C>A (p.Ser794=)
c.2301C>A (p.Ser767=)
c.2250C>A (p.Ser750=)
 gnomAD v4
14g.33800539C>GCA486093353NPAS3c.2232C>G (p.Ser744=)
c.2241C>G (p.Ser747=)
c.2132C>G
c.793+2958C>G
c.2136C>G (p.Ser712=)
c.2193C>G (p.Ser731=)
c.2142C>G (p.Ser714=)
c.2247C>G (p.Ser749=)
c.2154C>G (p.Ser718=)
c.2253C>G (p.Ser751=)
c.2283C>G (p.Ser761=)
c.2274C>G (p.Ser758=)
c.2244C>G (p.Ser748=)
c.2187C>G (p.Ser729=)
c.2133C>G (p.Ser711=)
c.1926C>G (p.Ser642=)
c.2340C>G (p.Ser780=)
c.2334C>G (p.Ser778=)
c.2331C>G (p.Ser777=)
c.2391C>G (p.Ser797=)
c.2382C>G (p.Ser794=)
c.2301C>G (p.Ser767=)
c.2250C>G (p.Ser750=)
 gnomAD v4
14g.33800539C>TCA486093352NPAS3c.2232C>T (p.Ser744=)
c.2241C>T (p.Ser747=)
c.2132C>T
c.793+2958C>T
c.2136C>T (p.Ser712=)
c.2193C>T (p.Ser731=)
c.2142C>T (p.Ser714=)
c.2247C>T (p.Ser749=)
c.2154C>T (p.Ser718=)
c.2253C>T (p.Ser751=)
c.2283C>T (p.Ser761=)
c.2274C>T (p.Ser758=)
c.2244C>T (p.Ser748=)
c.2187C>T (p.Ser729=)
c.2133C>T (p.Ser711=)
c.1926C>T (p.Ser642=)
c.2340C>T (p.Ser780=)
c.2334C>T (p.Ser778=)
c.2331C>T (p.Ser777=)
c.2391C>T (p.Ser797=)
c.2382C>T (p.Ser794=)
c.2301C>T (p.Ser767=)
c.2250C>T (p.Ser750=)
 gnomAD v4
14g.33800540G>ACA389414251NPAS3c.2233G>A (p.Asp745Asn)
c.2242G>A (p.Asp748Asn)
c.2133G>A
c.793+2959G>A
c.2137G>A (p.Asp713Asn)
c.2194G>A (p.Asp732Asn)
c.2143G>A (p.Asp715Asn)
c.2248G>A (p.Asp750Asn)
c.2155G>A (p.Asp719Asn)
c.2254G>A (p.Asp752Asn)
c.2284G>A (p.Asp762Asn)
c.2275G>A (p.Asp759Asn)
c.2245G>A (p.Asp749Asn)
c.2188G>A (p.Asp730Asn)
c.2134G>A (p.Asp712Asn)
c.1927G>A (p.Asp643Asn)
c.2341G>A (p.Asp781Asn)
c.2335G>A (p.Asp779Asn)
c.2332G>A (p.Asp778Asn)
c.2392G>A (p.Asp798Asn)
c.2383G>A (p.Asp795Asn)
c.2302G>A (p.Asp768Asn)
c.2251G>A (p.Asp751Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800540G>CCA389414252NPAS3c.2233G>C (p.Asp745His)
c.2242G>C (p.Asp748His)
c.2133G>C
c.793+2959G>C
c.2137G>C (p.Asp713His)
c.2194G>C (p.Asp732His)
c.2143G>C (p.Asp715His)
c.2248G>C (p.Asp750His)
c.2155G>C (p.Asp719His)
c.2254G>C (p.Asp752His)
c.2284G>C (p.Asp762His)
c.2275G>C (p.Asp759His)
c.2245G>C (p.Asp749His)
c.2188G>C (p.Asp730His)
c.2134G>C (p.Asp712His)
c.1927G>C (p.Asp643His)
c.2341G>C (p.Asp781His)
c.2335G>C (p.Asp779His)
c.2332G>C (p.Asp778His)
c.2392G>C (p.Asp798His)
c.2383G>C (p.Asp795His)
c.2302G>C (p.Asp768His)
c.2251G>C (p.Asp751His)
 gnomAD v4
14g.33800540G=CA2128327708NPAS3c.2233G= (p.Asp745=)
c.2242G= (p.Asp748=)
c.2133G=
c.793+2959G=
c.2137G= (p.Asp713=)
c.2194G= (p.Asp732=)
c.2143G= (p.Asp715=)
c.2248G= (p.Asp750=)
c.2155G= (p.Asp719=)
c.2254G= (p.Asp752=)
c.2284G= (p.Asp762=)
c.2275G= (p.Asp759=)
c.2245G= (p.Asp749=)
c.2188G= (p.Asp730=)
c.2134G= (p.Asp712=)
c.1927G= (p.Asp643=)
c.2341G= (p.Asp781=)
c.2335G= (p.Asp779=)
c.2332G= (p.Asp778=)
c.2392G= (p.Asp798=)
c.2383G= (p.Asp795=)
c.2302G= (p.Asp768=)
c.2251G= (p.Asp751=)
14g.33800540G>TCA389414253NPAS3c.2233G>T (p.Asp745Tyr)
c.2242G>T (p.Asp748Tyr)
c.2133G>T
c.793+2959G>T
c.2137G>T (p.Asp713Tyr)
c.2194G>T (p.Asp732Tyr)
c.2143G>T (p.Asp715Tyr)
c.2248G>T (p.Asp750Tyr)
c.2155G>T (p.Asp719Tyr)
c.2254G>T (p.Asp752Tyr)
c.2284G>T (p.Asp762Tyr)
c.2275G>T (p.Asp759Tyr)
c.2245G>T (p.Asp749Tyr)
c.2188G>T (p.Asp730Tyr)
c.2134G>T (p.Asp712Tyr)
c.1927G>T (p.Asp643Tyr)
c.2341G>T (p.Asp781Tyr)
c.2335G>T (p.Asp779Tyr)
c.2332G>T (p.Asp778Tyr)
c.2392G>T (p.Asp798Tyr)
c.2383G>T (p.Asp795Tyr)
c.2302G>T (p.Asp768Tyr)
c.2251G>T (p.Asp751Tyr)
 dbSNP gnomAD v4
14g.33800541A>CCA389414254NPAS3c.2234A>C (p.Asp745Ala)
c.2243A>C (p.Asp748Ala)
c.2134A>C
c.793+2960A>C
c.2138A>C (p.Asp713Ala)
c.2195A>C (p.Asp732Ala)
c.2144A>C (p.Asp715Ala)
c.2249A>C (p.Asp750Ala)
c.2156A>C (p.Asp719Ala)
c.2255A>C (p.Asp752Ala)
c.2285A>C (p.Asp762Ala)
c.2276A>C (p.Asp759Ala)
c.2246A>C (p.Asp749Ala)
c.2189A>C (p.Asp730Ala)
c.2135A>C (p.Asp712Ala)
c.1928A>C (p.Asp643Ala)
c.2342A>C (p.Asp781Ala)
c.2336A>C (p.Asp779Ala)
c.2333A>C (p.Asp778Ala)
c.2393A>C (p.Asp798Ala)
c.2384A>C (p.Asp795Ala)
c.2303A>C (p.Asp768Ala)
c.2252A>C (p.Asp751Ala)
 gnomAD v4
14g.33800541A>GCA389414255NPAS3c.2234A>G (p.Asp745Gly)
c.2243A>G (p.Asp748Gly)
c.2134A>G
c.793+2960A>G
c.2138A>G (p.Asp713Gly)
c.2195A>G (p.Asp732Gly)
c.2144A>G (p.Asp715Gly)
c.2249A>G (p.Asp750Gly)
c.2156A>G (p.Asp719Gly)
c.2255A>G (p.Asp752Gly)
c.2285A>G (p.Asp762Gly)
c.2276A>G (p.Asp759Gly)
c.2246A>G (p.Asp749Gly)
c.2189A>G (p.Asp730Gly)
c.2135A>G (p.Asp712Gly)
c.1928A>G (p.Asp643Gly)
c.2342A>G (p.Asp781Gly)
c.2336A>G (p.Asp779Gly)
c.2333A>G (p.Asp778Gly)
c.2393A>G (p.Asp798Gly)
c.2384A>G (p.Asp795Gly)
c.2303A>G (p.Asp768Gly)
c.2252A>G (p.Asp751Gly)
 gnomAD v4
14g.33800541A>TCA389414256NPAS3c.2234A>T (p.Asp745Val)
c.2243A>T (p.Asp748Val)
c.2134A>T
c.793+2960A>T
c.2138A>T (p.Asp713Val)
c.2195A>T (p.Asp732Val)
c.2144A>T (p.Asp715Val)
c.2249A>T (p.Asp750Val)
c.2156A>T (p.Asp719Val)
c.2255A>T (p.Asp752Val)
c.2285A>T (p.Asp762Val)
c.2276A>T (p.Asp759Val)
c.2246A>T (p.Asp749Val)
c.2189A>T (p.Asp730Val)
c.2135A>T (p.Asp712Val)
c.1928A>T (p.Asp643Val)
c.2342A>T (p.Asp781Val)
c.2336A>T (p.Asp779Val)
c.2333A>T (p.Asp778Val)
c.2393A>T (p.Asp798Val)
c.2384A>T (p.Asp795Val)
c.2303A>T (p.Asp768Val)
c.2252A>T (p.Asp751Val)
14g.33800542C>ACA389414257NPAS3c.2235C>A (p.Asp745Glu)
c.2244C>A (p.Asp748Glu)
c.2135C>A
c.793+2961C>A
c.2139C>A (p.Asp713Glu)
c.2196C>A (p.Asp732Glu)
c.2145C>A (p.Asp715Glu)
c.2250C>A (p.Asp750Glu)
c.2157C>A (p.Asp719Glu)
c.2256C>A (p.Asp752Glu)
c.2286C>A (p.Asp762Glu)
c.2277C>A (p.Asp759Glu)
c.2247C>A (p.Asp749Glu)
c.2190C>A (p.Asp730Glu)
c.2136C>A (p.Asp712Glu)
c.1929C>A (p.Asp643Glu)
c.2343C>A (p.Asp781Glu)
c.2337C>A (p.Asp779Glu)
c.2334C>A (p.Asp778Glu)
c.2394C>A (p.Asp798Glu)
c.2385C>A (p.Asp795Glu)
c.2304C>A (p.Asp768Glu)
c.2253C>A (p.Asp751Glu)
 gnomAD v4
14g.33800542C>GCA389414258NPAS3c.2235C>G (p.Asp745Glu)
c.2244C>G (p.Asp748Glu)
c.2135C>G
c.793+2961C>G
c.2139C>G (p.Asp713Glu)
c.2196C>G (p.Asp732Glu)
c.2145C>G (p.Asp715Glu)
c.2250C>G (p.Asp750Glu)
c.2157C>G (p.Asp719Glu)
c.2256C>G (p.Asp752Glu)
c.2286C>G (p.Asp762Glu)
c.2277C>G (p.Asp759Glu)
c.2247C>G (p.Asp749Glu)
c.2190C>G (p.Asp730Glu)
c.2136C>G (p.Asp712Glu)
c.1929C>G (p.Asp643Glu)
c.2343C>G (p.Asp781Glu)
c.2337C>G (p.Asp779Glu)
c.2334C>G (p.Asp778Glu)
c.2394C>G (p.Asp798Glu)
c.2385C>G (p.Asp795Glu)
c.2304C>G (p.Asp768Glu)
c.2253C>G (p.Asp751Glu)
14g.33800542C>TCA486093358NPAS3c.2235C>T (p.Asp745=)
c.2244C>T (p.Asp748=)
c.2135C>T
c.793+2961C>T
c.2139C>T (p.Asp713=)
c.2196C>T (p.Asp732=)
c.2145C>T (p.Asp715=)
c.2250C>T (p.Asp750=)
c.2157C>T (p.Asp719=)
c.2256C>T (p.Asp752=)
c.2286C>T (p.Asp762=)
c.2277C>T (p.Asp759=)
c.2247C>T (p.Asp749=)
c.2190C>T (p.Asp730=)
c.2136C>T (p.Asp712=)
c.1929C>T (p.Asp643=)
c.2343C>T (p.Asp781=)
c.2337C>T (p.Asp779=)
c.2334C>T (p.Asp778=)
c.2394C>T (p.Asp798=)
c.2385C>T (p.Asp795=)
c.2304C>T (p.Asp768=)
c.2253C>T (p.Asp751=)
 gnomAD v4
14g.33800543C>ACA389414259NPAS3c.2236C>A (p.Pro746Thr)
c.2245C>A (p.Pro749Thr)
c.2136C>A
c.793+2962C>A
c.2140C>A (p.Pro714Thr)
c.2197C>A (p.Pro733Thr)
c.2146C>A (p.Pro716Thr)
c.2251C>A (p.Pro751Thr)
c.2158C>A (p.Pro720Thr)
c.2257C>A (p.Pro753Thr)
c.2287C>A (p.Pro763Thr)
c.2278C>A (p.Pro760Thr)
c.2248C>A (p.Pro750Thr)
c.2191C>A (p.Pro731Thr)
c.2137C>A (p.Pro713Thr)
c.1930C>A (p.Pro644Thr)
c.2344C>A (p.Pro782Thr)
c.2338C>A (p.Pro780Thr)
c.2335C>A (p.Pro779Thr)
c.2395C>A (p.Pro799Thr)
c.2386C>A (p.Pro796Thr)
c.2305C>A (p.Pro769Thr)
c.2254C>A (p.Pro752Thr)
 gnomAD v4
14g.33800543C>GCA389414260NPAS3c.2236C>G (p.Pro746Ala)
c.2245C>G (p.Pro749Ala)
c.2136C>G
c.793+2962C>G
c.2140C>G (p.Pro714Ala)
c.2197C>G (p.Pro733Ala)
c.2146C>G (p.Pro716Ala)
c.2251C>G (p.Pro751Ala)
c.2158C>G (p.Pro720Ala)
c.2257C>G (p.Pro753Ala)
c.2287C>G (p.Pro763Ala)
c.2278C>G (p.Pro760Ala)
c.2248C>G (p.Pro750Ala)
c.2191C>G (p.Pro731Ala)
c.2137C>G (p.Pro713Ala)
c.1930C>G (p.Pro644Ala)
c.2344C>G (p.Pro782Ala)
c.2338C>G (p.Pro780Ala)
c.2335C>G (p.Pro779Ala)
c.2395C>G (p.Pro799Ala)
c.2386C>G (p.Pro796Ala)
c.2305C>G (p.Pro769Ala)
c.2254C>G (p.Pro752Ala)
 gnomAD v4
14g.33800543C>TCA389414261NPAS3c.2236C>T (p.Pro746Ser)
c.2245C>T (p.Pro749Ser)
c.2136C>T
c.793+2962C>T
c.2140C>T (p.Pro714Ser)
c.2197C>T (p.Pro733Ser)
c.2146C>T (p.Pro716Ser)
c.2251C>T (p.Pro751Ser)
c.2158C>T (p.Pro720Ser)
c.2257C>T (p.Pro753Ser)
c.2287C>T (p.Pro763Ser)
c.2278C>T (p.Pro760Ser)
c.2248C>T (p.Pro750Ser)
c.2191C>T (p.Pro731Ser)
c.2137C>T (p.Pro713Ser)
c.1930C>T (p.Pro644Ser)
c.2344C>T (p.Pro782Ser)
c.2338C>T (p.Pro780Ser)
c.2335C>T (p.Pro779Ser)
c.2395C>T (p.Pro799Ser)
c.2386C>T (p.Pro796Ser)
c.2305C>T (p.Pro769Ser)
c.2254C>T (p.Pro752Ser)
 gnomAD v4
14g.33800544C>ACA389414264NPAS3c.2237C>A (p.Pro746Gln)
c.2246C>A (p.Pro749Gln)
c.2137C>A
c.793+2963C>A
c.2141C>A (p.Pro714Gln)
c.2198C>A (p.Pro733Gln)
c.2147C>A (p.Pro716Gln)
c.2252C>A (p.Pro751Gln)
c.2159C>A (p.Pro720Gln)
c.2258C>A (p.Pro753Gln)
c.2288C>A (p.Pro763Gln)
c.2279C>A (p.Pro760Gln)
c.2249C>A (p.Pro750Gln)
c.2192C>A (p.Pro731Gln)
c.2138C>A (p.Pro713Gln)
c.1931C>A (p.Pro644Gln)
c.2345C>A (p.Pro782Gln)
c.2339C>A (p.Pro780Gln)
c.2336C>A (p.Pro779Gln)
c.2396C>A (p.Pro799Gln)
c.2387C>A (p.Pro796Gln)
c.2306C>A (p.Pro769Gln)
c.2255C>A (p.Pro752Gln)
 gnomAD v4
14g.33800544C=CA2128327713NPAS3c.2237C= (p.Pro746=)
c.2246C= (p.Pro749=)
c.2137C=
c.793+2963C=
c.2141C= (p.Pro714=)
c.2198C= (p.Pro733=)
c.2147C= (p.Pro716=)
c.2252C= (p.Pro751=)
c.2159C= (p.Pro720=)
c.2258C= (p.Pro753=)
c.2288C= (p.Pro763=)
c.2279C= (p.Pro760=)
c.2249C= (p.Pro750=)
c.2192C= (p.Pro731=)
c.2138C= (p.Pro713=)
c.1931C= (p.Pro644=)
c.2345C= (p.Pro782=)
c.2339C= (p.Pro780=)
c.2336C= (p.Pro779=)
c.2396C= (p.Pro799=)
c.2387C= (p.Pro796=)
c.2306C= (p.Pro769=)
c.2255C= (p.Pro752=)
14g.33800544C>GCA389414263NPAS3c.2237C>G (p.Pro746Arg)
c.2246C>G (p.Pro749Arg)
c.2137C>G
c.793+2963C>G
c.2141C>G (p.Pro714Arg)
c.2198C>G (p.Pro733Arg)
c.2147C>G (p.Pro716Arg)
c.2252C>G (p.Pro751Arg)
c.2159C>G (p.Pro720Arg)
c.2258C>G (p.Pro753Arg)
c.2288C>G (p.Pro763Arg)
c.2279C>G (p.Pro760Arg)
c.2249C>G (p.Pro750Arg)
c.2192C>G (p.Pro731Arg)
c.2138C>G (p.Pro713Arg)
c.1931C>G (p.Pro644Arg)
c.2345C>G (p.Pro782Arg)
c.2339C>G (p.Pro780Arg)
c.2336C>G (p.Pro779Arg)
c.2396C>G (p.Pro799Arg)
c.2387C>G (p.Pro796Arg)
c.2306C>G (p.Pro769Arg)
c.2255C>G (p.Pro752Arg)
 gnomAD v4
14g.33800544C>TCA389414262NPAS3c.2237C>T (p.Pro746Leu)
c.2246C>T (p.Pro749Leu)
c.2137C>T
c.793+2963C>T
c.2141C>T (p.Pro714Leu)
c.2198C>T (p.Pro733Leu)
c.2147C>T (p.Pro716Leu)
c.2252C>T (p.Pro751Leu)
c.2159C>T (p.Pro720Leu)
c.2258C>T (p.Pro753Leu)
c.2288C>T (p.Pro763Leu)
c.2279C>T (p.Pro760Leu)
c.2249C>T (p.Pro750Leu)
c.2192C>T (p.Pro731Leu)
c.2138C>T (p.Pro713Leu)
c.1931C>T (p.Pro644Leu)
c.2345C>T (p.Pro782Leu)
c.2339C>T (p.Pro780Leu)
c.2336C>T (p.Pro779Leu)
c.2396C>T (p.Pro799Leu)
c.2387C>T (p.Pro796Leu)
c.2306C>T (p.Pro769Leu)
c.2255C>T (p.Pro752Leu)
 dbSNP gnomAD v3 gnomAD v4
14g.33800545_33800546delCA2624512045NPAS3c.2238_2239del (p.Leu747ValfsTer?)
c.2247_2248del (p.Leu750ValfsTer?)
c.2138_2139del
c.793+2964_793+2965del
c.2142_2143del (p.Leu715ValfsTer?)
c.2199_2200del (p.Leu734ValfsTer?)
c.2148_2149del (p.Leu717ValfsTer?)
c.2253_2254del (p.Leu752ValfsTer?)
c.2160_2161del (p.Leu721ValfsTer?)
c.2259_2260del (p.Leu754ValfsTer?)
c.2289_2290del (p.Leu764ValfsTer?)
c.2280_2281del (p.Leu761ValfsTer?)
c.2250_2251del (p.Leu751ValfsTer?)
c.2193_2194del (p.Leu732ValfsTer?)
c.2139_2140del (p.Leu714ValfsTer?)
c.1932_1933del (p.Leu645ValfsTer?)
c.2346_2347del (p.Leu783ValfsTer?)
c.2340_2341del (p.Leu781ValfsTer?)
c.2337_2338del (p.Leu780ValfsTer?)
c.2397_2398del (p.Leu800ValfsTer?)
c.2388_2389del (p.Leu797ValfsTer?)
c.2307_2308del (p.Leu770ValfsTer?)
c.2256_2257del (p.Leu753ValfsTer?)
 gnomAD v4
14g.33800545G>ACA486093360NPAS3c.2238G>A (p.Pro746=)
c.2247G>A (p.Pro749=)
c.2138G>A
c.793+2964G>A
c.2142G>A (p.Pro714=)
c.2199G>A (p.Pro733=)
c.2148G>A (p.Pro716=)
c.2253G>A (p.Pro751=)
c.2160G>A (p.Pro720=)
c.2259G>A (p.Pro753=)
c.2289G>A (p.Pro763=)
c.2280G>A (p.Pro760=)
c.2250G>A (p.Pro750=)
c.2193G>A (p.Pro731=)
c.2139G>A (p.Pro713=)
c.1932G>A (p.Pro644=)
c.2346G>A (p.Pro782=)
c.2340G>A (p.Pro780=)
c.2337G>A (p.Pro779=)
c.2397G>A (p.Pro799=)
c.2388G>A (p.Pro796=)
c.2307G>A (p.Pro769=)
c.2256G>A (p.Pro752=)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
14g.33800545G>CCA486093361NPAS3c.2238G>C (p.Pro746=)
c.2247G>C (p.Pro749=)
c.2138G>C
c.793+2964G>C
c.2142G>C (p.Pro714=)
c.2199G>C (p.Pro733=)
c.2148G>C (p.Pro716=)
c.2253G>C (p.Pro751=)
c.2160G>C (p.Pro720=)
c.2259G>C (p.Pro753=)
c.2289G>C (p.Pro763=)
c.2280G>C (p.Pro760=)
c.2250G>C (p.Pro750=)
c.2193G>C (p.Pro731=)
c.2139G>C (p.Pro713=)
c.1932G>C (p.Pro644=)
c.2346G>C (p.Pro782=)
c.2340G>C (p.Pro780=)
c.2337G>C (p.Pro779=)
c.2397G>C (p.Pro799=)
c.2388G>C (p.Pro796=)
c.2307G>C (p.Pro769=)
c.2256G>C (p.Pro752=)
 gnomAD v4
14g.33800545G=CA2128327717NPAS3c.2238G= (p.Pro746=)
c.2247G= (p.Pro749=)
c.2138G=
c.793+2964G=
c.2142G= (p.Pro714=)
c.2199G= (p.Pro733=)
c.2148G= (p.Pro716=)
c.2253G= (p.Pro751=)
c.2160G= (p.Pro720=)
c.2259G= (p.Pro753=)
c.2289G= (p.Pro763=)
c.2280G= (p.Pro760=)
c.2250G= (p.Pro750=)
c.2193G= (p.Pro731=)
c.2139G= (p.Pro713=)
c.1932G= (p.Pro644=)
c.2346G= (p.Pro782=)
c.2340G= (p.Pro780=)
c.2337G= (p.Pro779=)
c.2397G= (p.Pro799=)
c.2388G= (p.Pro796=)
c.2307G= (p.Pro769=)
c.2256G= (p.Pro752=)
14g.33800545G>TCA7150964NPAS3c.2238G>T (p.Pro746=)
c.2247G>T (p.Pro749=)
c.2138G>T
c.793+2964G>T
c.2142G>T (p.Pro714=)
c.2199G>T (p.Pro733=)
c.2148G>T (p.Pro716=)
c.2253G>T (p.Pro751=)
c.2160G>T (p.Pro720=)
c.2259G>T (p.Pro753=)
c.2289G>T (p.Pro763=)
c.2280G>T (p.Pro760=)
c.2250G>T (p.Pro750=)
c.2193G>T (p.Pro731=)
c.2139G>T (p.Pro713=)
c.1932G>T (p.Pro644=)
c.2346G>T (p.Pro782=)
c.2340G>T (p.Pro780=)
c.2337G>T (p.Pro779=)
c.2397G>T (p.Pro799=)
c.2388G>T (p.Pro796=)
c.2307G>T (p.Pro769=)
c.2256G>T (p.Pro752=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800546_33800548delCA2624512046NPAS3c.2239_2241del (p.Leu747del)
c.2248_2250del (p.Leu750del)
c.2139_2141del
c.793+2965_793+2967del
c.2143_2145del (p.Leu715del)
c.2200_2202del (p.Leu734del)
c.2149_2151del (p.Leu717del)
c.2254_2256del (p.Leu752del)
c.2161_2163del (p.Leu721del)
c.2260_2262del (p.Leu754del)
c.2290_2292del (p.Leu764del)
c.2281_2283del (p.Leu761del)
c.2251_2253del (p.Leu751del)
c.2194_2196del (p.Leu732del)
c.2140_2142del (p.Leu714del)
c.1933_1935del (p.Leu645del)
c.2347_2349del (p.Leu783del)
c.2341_2343del (p.Leu781del)
c.2338_2340del (p.Leu780del)
c.2398_2400del (p.Leu800del)
c.2389_2391del (p.Leu797del)
c.2308_2310del (p.Leu770del)
c.2257_2259del (p.Leu753del)
 gnomAD v4
14g.33800546C>ACA389414265NPAS3c.2239C>A (p.Leu747Met)
c.2248C>A (p.Leu750Met)
c.2139C>A
c.793+2965C>A
c.2143C>A (p.Leu715Met)
c.2200C>A (p.Leu734Met)
c.2149C>A (p.Leu717Met)
c.2254C>A (p.Leu752Met)
c.2161C>A (p.Leu721Met)
c.2260C>A (p.Leu754Met)
c.2290C>A (p.Leu764Met)
c.2281C>A (p.Leu761Met)
c.2251C>A (p.Leu751Met)
c.2194C>A (p.Leu732Met)
c.2140C>A (p.Leu714Met)
c.1933C>A (p.Leu645Met)
c.2347C>A (p.Leu783Met)
c.2341C>A (p.Leu781Met)
c.2338C>A (p.Leu780Met)
c.2398C>A (p.Leu800Met)
c.2389C>A (p.Leu797Met)
c.2308C>A (p.Leu770Met)
c.2257C>A (p.Leu753Met)
 gnomAD v4
14g.33800546C>GCA389414266NPAS3c.2239C>G (p.Leu747Val)
c.2248C>G (p.Leu750Val)
c.2139C>G
c.793+2965C>G
c.2143C>G (p.Leu715Val)
c.2200C>G (p.Leu734Val)
c.2149C>G (p.Leu717Val)
c.2254C>G (p.Leu752Val)
c.2161C>G (p.Leu721Val)
c.2260C>G (p.Leu754Val)
c.2290C>G (p.Leu764Val)
c.2281C>G (p.Leu761Val)
c.2251C>G (p.Leu751Val)
c.2194C>G (p.Leu732Val)
c.2140C>G (p.Leu714Val)
c.1933C>G (p.Leu645Val)
c.2347C>G (p.Leu783Val)
c.2341C>G (p.Leu781Val)
c.2338C>G (p.Leu780Val)
c.2398C>G (p.Leu800Val)
c.2389C>G (p.Leu797Val)
c.2308C>G (p.Leu770Val)
c.2257C>G (p.Leu753Val)
 gnomAD v4
14g.33800546C>TCA486093362NPAS3c.2239C>T (p.Leu747=)
c.2248C>T (p.Leu750=)
c.2139C>T
c.793+2965C>T
c.2143C>T (p.Leu715=)
c.2200C>T (p.Leu734=)
c.2149C>T (p.Leu717=)
c.2254C>T (p.Leu752=)
c.2161C>T (p.Leu721=)
c.2260C>T (p.Leu754=)
c.2290C>T (p.Leu764=)
c.2281C>T (p.Leu761=)
c.2251C>T (p.Leu751=)
c.2194C>T (p.Leu732=)
c.2140C>T (p.Leu714=)
c.1933C>T (p.Leu645=)
c.2347C>T (p.Leu783=)
c.2341C>T (p.Leu781=)
c.2338C>T (p.Leu780=)
c.2398C>T (p.Leu800=)
c.2389C>T (p.Leu797=)
c.2308C>T (p.Leu770=)
c.2257C>T (p.Leu753=)
 gnomAD v4
14g.33800547T>ACA389414267NPAS3c.2240T>A (p.Leu747Gln)
c.2249T>A (p.Leu750Gln)
c.2140T>A
c.793+2966T>A
c.2144T>A (p.Leu715Gln)
c.2201T>A (p.Leu734Gln)
c.2150T>A (p.Leu717Gln)
c.2255T>A (p.Leu752Gln)
c.2162T>A (p.Leu721Gln)
c.2261T>A (p.Leu754Gln)
c.2291T>A (p.Leu764Gln)
c.2282T>A (p.Leu761Gln)
c.2252T>A (p.Leu751Gln)
c.2195T>A (p.Leu732Gln)
c.2141T>A (p.Leu714Gln)
c.1934T>A (p.Leu645Gln)
c.2348T>A (p.Leu783Gln)
c.2342T>A (p.Leu781Gln)
c.2339T>A (p.Leu780Gln)
c.2399T>A (p.Leu800Gln)
c.2390T>A (p.Leu797Gln)
c.2309T>A (p.Leu770Gln)
c.2258T>A (p.Leu753Gln)
 gnomAD v4
14g.33800547T>CCA389414268NPAS3c.2240T>C (p.Leu747Pro)
c.2249T>C (p.Leu750Pro)
c.2140T>C
c.793+2966T>C
c.2144T>C (p.Leu715Pro)
c.2201T>C (p.Leu734Pro)
c.2150T>C (p.Leu717Pro)
c.2255T>C (p.Leu752Pro)
c.2162T>C (p.Leu721Pro)
c.2261T>C (p.Leu754Pro)
c.2291T>C (p.Leu764Pro)
c.2282T>C (p.Leu761Pro)
c.2252T>C (p.Leu751Pro)
c.2195T>C (p.Leu732Pro)
c.2141T>C (p.Leu714Pro)
c.1934T>C (p.Leu645Pro)
c.2348T>C (p.Leu783Pro)
c.2342T>C (p.Leu781Pro)
c.2339T>C (p.Leu780Pro)
c.2399T>C (p.Leu800Pro)
c.2390T>C (p.Leu797Pro)
c.2309T>C (p.Leu770Pro)
c.2258T>C (p.Leu753Pro)
 gnomAD v4
14g.33800547T>GCA389414269NPAS3c.2240T>G (p.Leu747Arg)
c.2249T>G (p.Leu750Arg)
c.2140T>G
c.793+2966T>G
c.2144T>G (p.Leu715Arg)
c.2201T>G (p.Leu734Arg)
c.2150T>G (p.Leu717Arg)
c.2255T>G (p.Leu752Arg)
c.2162T>G (p.Leu721Arg)
c.2261T>G (p.Leu754Arg)
c.2291T>G (p.Leu764Arg)
c.2282T>G (p.Leu761Arg)
c.2252T>G (p.Leu751Arg)
c.2195T>G (p.Leu732Arg)
c.2141T>G (p.Leu714Arg)
c.1934T>G (p.Leu645Arg)
c.2348T>G (p.Leu783Arg)
c.2342T>G (p.Leu781Arg)
c.2339T>G (p.Leu780Arg)
c.2399T>G (p.Leu800Arg)
c.2390T>G (p.Leu797Arg)
c.2309T>G (p.Leu770Arg)
c.2258T>G (p.Leu753Arg)
 gnomAD v4
14g.33800548G>ACA486093370NPAS3c.2241G>A (p.Leu747=)
c.2250G>A (p.Leu750=)
c.2141G>A
c.793+2967G>A
c.2145G>A (p.Leu715=)
c.2202G>A (p.Leu734=)
c.2151G>A (p.Leu717=)
c.2256G>A (p.Leu752=)
c.2163G>A (p.Leu721=)
c.2262G>A (p.Leu754=)
c.2292G>A (p.Leu764=)
c.2283G>A (p.Leu761=)
c.2253G>A (p.Leu751=)
c.2196G>A (p.Leu732=)
c.2142G>A (p.Leu714=)
c.1935G>A (p.Leu645=)
c.2349G>A (p.Leu783=)
c.2343G>A (p.Leu781=)
c.2340G>A (p.Leu780=)
c.2400G>A (p.Leu800=)
c.2391G>A (p.Leu797=)
c.2310G>A (p.Leu770=)
c.2259G>A (p.Leu753=)
 gnomAD v4
14g.33800548G>CCA486093371NPAS3c.2241G>C (p.Leu747=)
c.2250G>C (p.Leu750=)
c.2141G>C
c.793+2967G>C
c.2145G>C (p.Leu715=)
c.2202G>C (p.Leu734=)
c.2151G>C (p.Leu717=)
c.2256G>C (p.Leu752=)
c.2163G>C (p.Leu721=)
c.2262G>C (p.Leu754=)
c.2292G>C (p.Leu764=)
c.2283G>C (p.Leu761=)
c.2253G>C (p.Leu751=)
c.2196G>C (p.Leu732=)
c.2142G>C (p.Leu714=)
c.1935G>C (p.Leu645=)
c.2349G>C (p.Leu783=)
c.2343G>C (p.Leu781=)
c.2340G>C (p.Leu780=)
c.2400G>C (p.Leu800=)
c.2391G>C (p.Leu797=)
c.2310G>C (p.Leu770=)
c.2259G>C (p.Leu753=)
 gnomAD v4
14g.33800548G>TCA486093368NPAS3c.2241G>T (p.Leu747=)
c.2250G>T (p.Leu750=)
c.2141G>T
c.793+2967G>T
c.2145G>T (p.Leu715=)
c.2202G>T (p.Leu734=)
c.2151G>T (p.Leu717=)
c.2256G>T (p.Leu752=)
c.2163G>T (p.Leu721=)
c.2262G>T (p.Leu754=)
c.2292G>T (p.Leu764=)
c.2283G>T (p.Leu761=)
c.2253G>T (p.Leu751=)
c.2196G>T (p.Leu732=)
c.2142G>T (p.Leu714=)
c.1935G>T (p.Leu645=)
c.2349G>T (p.Leu783=)
c.2343G>T (p.Leu781=)
c.2340G>T (p.Leu780=)
c.2400G>T (p.Leu800=)
c.2391G>T (p.Leu797=)
c.2310G>T (p.Leu770=)
c.2259G>T (p.Leu753=)
 gnomAD v4
14g.33800549T>ACA389414270NPAS3c.2242T>A (p.Ser748Thr)
c.2251T>A (p.Ser751Thr)
c.2142T>A
c.793+2968T>A
c.2146T>A (p.Ser716Thr)
c.2203T>A (p.Ser735Thr)
c.2152T>A (p.Ser718Thr)
c.2257T>A (p.Ser753Thr)
c.2164T>A (p.Ser722Thr)
c.2263T>A (p.Ser755Thr)
c.2293T>A (p.Ser765Thr)
c.2284T>A (p.Ser762Thr)
c.2254T>A (p.Ser752Thr)
c.2197T>A (p.Ser733Thr)
c.2143T>A (p.Ser715Thr)
c.1936T>A (p.Ser646Thr)
c.2350T>A (p.Ser784Thr)
c.2344T>A (p.Ser782Thr)
c.2341T>A (p.Ser781Thr)
c.2401T>A (p.Ser801Thr)
c.2392T>A (p.Ser798Thr)
c.2311T>A (p.Ser771Thr)
c.2260T>A (p.Ser754Thr)
14g.33800549T>CCA389414271NPAS3c.2242T>C (p.Ser748Pro)
c.2251T>C (p.Ser751Pro)
c.2142T>C
c.793+2968T>C
c.2146T>C (p.Ser716Pro)
c.2203T>C (p.Ser735Pro)
c.2152T>C (p.Ser718Pro)
c.2257T>C (p.Ser753Pro)
c.2164T>C (p.Ser722Pro)
c.2263T>C (p.Ser755Pro)
c.2293T>C (p.Ser765Pro)
c.2284T>C (p.Ser762Pro)
c.2254T>C (p.Ser752Pro)
c.2197T>C (p.Ser733Pro)
c.2143T>C (p.Ser715Pro)
c.1936T>C (p.Ser646Pro)
c.2350T>C (p.Ser784Pro)
c.2344T>C (p.Ser782Pro)
c.2341T>C (p.Ser781Pro)
c.2401T>C (p.Ser801Pro)
c.2392T>C (p.Ser798Pro)
c.2311T>C (p.Ser771Pro)
c.2260T>C (p.Ser754Pro)
 gnomAD v4
14g.33800549T>GCA389414272NPAS3c.2242T>G (p.Ser748Ala)
c.2251T>G (p.Ser751Ala)
c.2142T>G
c.793+2968T>G
c.2146T>G (p.Ser716Ala)
c.2203T>G (p.Ser735Ala)
c.2152T>G (p.Ser718Ala)
c.2257T>G (p.Ser753Ala)
c.2164T>G (p.Ser722Ala)
c.2263T>G (p.Ser755Ala)
c.2293T>G (p.Ser765Ala)
c.2284T>G (p.Ser762Ala)
c.2254T>G (p.Ser752Ala)
c.2197T>G (p.Ser733Ala)
c.2143T>G (p.Ser715Ala)
c.1936T>G (p.Ser646Ala)
c.2350T>G (p.Ser784Ala)
c.2344T>G (p.Ser782Ala)
c.2341T>G (p.Ser781Ala)
c.2401T>G (p.Ser801Ala)
c.2392T>G (p.Ser798Ala)
c.2311T>G (p.Ser771Ala)
c.2260T>G (p.Ser754Ala)
14g.33800550C>ACA389414273NPAS3c.2243C>A (p.Ser748Ter)
c.2252C>A (p.Ser751Ter)
c.2143C>A
c.793+2969C>A
c.2147C>A (p.Ser716Ter)
c.2204C>A (p.Ser735Ter)
c.2153C>A (p.Ser718Ter)
c.2258C>A (p.Ser753Ter)
c.2165C>A (p.Ser722Ter)
c.2264C>A (p.Ser755Ter)
c.2294C>A (p.Ser765Ter)
c.2285C>A (p.Ser762Ter)
c.2255C>A (p.Ser752Ter)
c.2198C>A (p.Ser733Ter)
c.2144C>A (p.Ser715Ter)
c.1937C>A (p.Ser646Ter)
c.2351C>A (p.Ser784Ter)
c.2345C>A (p.Ser782Ter)
c.2342C>A (p.Ser781Ter)
c.2402C>A (p.Ser801Ter)
c.2393C>A (p.Ser798Ter)
c.2312C>A (p.Ser771Ter)
c.2261C>A (p.Ser754Ter)
 gnomAD v4
14g.33800550C>GCA389414274NPAS3c.2243C>G (p.Ser748Ter)
c.2252C>G (p.Ser751Ter)
c.2143C>G
c.793+2969C>G
c.2147C>G (p.Ser716Ter)
c.2204C>G (p.Ser735Ter)
c.2153C>G (p.Ser718Ter)
c.2258C>G (p.Ser753Ter)
c.2165C>G (p.Ser722Ter)
c.2264C>G (p.Ser755Ter)
c.2294C>G (p.Ser765Ter)
c.2285C>G (p.Ser762Ter)
c.2255C>G (p.Ser752Ter)
c.2198C>G (p.Ser733Ter)
c.2144C>G (p.Ser715Ter)
c.1937C>G (p.Ser646Ter)
c.2351C>G (p.Ser784Ter)
c.2345C>G (p.Ser782Ter)
c.2342C>G (p.Ser781Ter)
c.2402C>G (p.Ser801Ter)
c.2393C>G (p.Ser798Ter)
c.2312C>G (p.Ser771Ter)
c.2261C>G (p.Ser754Ter)
 gnomAD v4
14g.33800550C>TCA389414275NPAS3c.2243C>T (p.Ser748Leu)
c.2252C>T (p.Ser751Leu)
c.2143C>T
c.793+2969C>T
c.2147C>T (p.Ser716Leu)
c.2204C>T (p.Ser735Leu)
c.2153C>T (p.Ser718Leu)
c.2258C>T (p.Ser753Leu)
c.2165C>T (p.Ser722Leu)
c.2264C>T (p.Ser755Leu)
c.2294C>T (p.Ser765Leu)
c.2285C>T (p.Ser762Leu)
c.2255C>T (p.Ser752Leu)
c.2198C>T (p.Ser733Leu)
c.2144C>T (p.Ser715Leu)
c.1937C>T (p.Ser646Leu)
c.2351C>T (p.Ser784Leu)
c.2345C>T (p.Ser782Leu)
c.2342C>T (p.Ser781Leu)
c.2402C>T (p.Ser801Leu)
c.2393C>T (p.Ser798Leu)
c.2312C>T (p.Ser771Leu)
c.2261C>T (p.Ser754Leu)
14g.33800551A>CCA486093375NPAS3c.2244A>C (p.Ser748=)
c.2253A>C (p.Ser751=)
c.2144A>C
c.793+2970A>C
c.2148A>C (p.Ser716=)
c.2205A>C (p.Ser735=)
c.2154A>C (p.Ser718=)
c.2259A>C (p.Ser753=)
c.2166A>C (p.Ser722=)
c.2265A>C (p.Ser755=)
c.2295A>C (p.Ser765=)
c.2286A>C (p.Ser762=)
c.2256A>C (p.Ser752=)
c.2199A>C (p.Ser733=)
c.2145A>C (p.Ser715=)
c.1938A>C (p.Ser646=)
c.2352A>C (p.Ser784=)
c.2346A>C (p.Ser782=)
c.2343A>C (p.Ser781=)
c.2403A>C (p.Ser801=)
c.2394A>C (p.Ser798=)
c.2313A>C (p.Ser771=)
c.2262A>C (p.Ser754=)
 gnomAD v4
14g.33800551A>GCA486093376NPAS3c.2244A>G (p.Ser748=)
c.2253A>G (p.Ser751=)
c.2144A>G
c.793+2970A>G
c.2148A>G (p.Ser716=)
c.2205A>G (p.Ser735=)
c.2154A>G (p.Ser718=)
c.2259A>G (p.Ser753=)
c.2166A>G (p.Ser722=)
c.2265A>G (p.Ser755=)
c.2295A>G (p.Ser765=)
c.2286A>G (p.Ser762=)
c.2256A>G (p.Ser752=)
c.2199A>G (p.Ser733=)
c.2145A>G (p.Ser715=)
c.1938A>G (p.Ser646=)
c.2352A>G (p.Ser784=)
c.2346A>G (p.Ser782=)
c.2343A>G (p.Ser781=)
c.2403A>G (p.Ser801=)
c.2394A>G (p.Ser798=)
c.2313A>G (p.Ser771=)
c.2262A>G (p.Ser754=)
 gnomAD v3 gnomAD v4
14g.33800551A>TCA486093377NPAS3c.2244A>T (p.Ser748=)
c.2253A>T (p.Ser751=)
c.2144A>T
c.793+2970A>T
c.2148A>T (p.Ser716=)
c.2205A>T (p.Ser735=)
c.2154A>T (p.Ser718=)
c.2259A>T (p.Ser753=)
c.2166A>T (p.Ser722=)
c.2265A>T (p.Ser755=)
c.2295A>T (p.Ser765=)
c.2286A>T (p.Ser762=)
c.2256A>T (p.Ser752=)
c.2199A>T (p.Ser733=)
c.2145A>T (p.Ser715=)
c.1938A>T (p.Ser646=)
c.2352A>T (p.Ser784=)
c.2346A>T (p.Ser782=)
c.2343A>T (p.Ser781=)
c.2403A>T (p.Ser801=)
c.2394A>T (p.Ser798=)
c.2313A>T (p.Ser771=)
c.2262A>T (p.Ser754=)
14g.33800551_33800552delinsACCA2128327721NPAS3c.2244_2245delinsAC (p.Ser748=)
c.2253_2254delinsAC (p.Ser751=)
c.2144_2145delinsAC
c.793+2970_793+2971delinsAC
c.2148_2149delinsAC (p.Ser716=)
c.2205_2206delinsAC (p.Ser735=)
c.2154_2155delinsAC (p.Ser718=)
c.2259_2260delinsAC (p.Ser753=)
c.2166_2167delinsAC (p.Ser722=)
c.2265_2266delinsAC (p.Ser755=)
c.2295_2296delinsAC (p.Ser765=)
c.2286_2287delinsAC (p.Ser762=)
c.2256_2257delinsAC (p.Ser752=)
c.2199_2200delinsAC (p.Ser733=)
c.2145_2146delinsAC (p.Ser715=)
c.1938_1939delinsAC (p.Ser646=)
c.2352_2353delinsAC (p.Ser784=)
c.2346_2347delinsAC (p.Ser782=)
c.2343_2344delinsAC (p.Ser781=)
c.2403_2404delinsAC (p.Ser801=)
c.2394_2395delinsAC (p.Ser798=)
c.2313_2314delinsAC (p.Ser771=)
c.2262_2263delinsAC (p.Ser754=)
14g.33800552C>ACA389414278NPAS3c.2245C>A (p.Pro749Thr)
c.2254C>A (p.Pro752Thr)
c.2145C>A
c.793+2971C>A
c.2149C>A (p.Pro717Thr)
c.2206C>A (p.Pro736Thr)
c.2155C>A (p.Pro719Thr)
c.2260C>A (p.Pro754Thr)
c.2167C>A (p.Pro723Thr)
c.2266C>A (p.Pro756Thr)
c.2296C>A (p.Pro766Thr)
c.2287C>A (p.Pro763Thr)
c.2257C>A (p.Pro753Thr)
c.2200C>A (p.Pro734Thr)
c.2146C>A (p.Pro716Thr)
c.1939C>A (p.Pro647Thr)
c.2353C>A (p.Pro785Thr)
c.2347C>A (p.Pro783Thr)
c.2344C>A (p.Pro782Thr)
c.2404C>A (p.Pro802Thr)
c.2395C>A (p.Pro799Thr)
c.2314C>A (p.Pro772Thr)
c.2263C>A (p.Pro755Thr)
 dbSNP gnomAD v4
14g.33800552C=CA2128327724NPAS3c.2245C= (p.Pro749=)
c.2254C= (p.Pro752=)
c.2145C=
c.793+2971C=
c.2149C= (p.Pro717=)
c.2206C= (p.Pro736=)
c.2155C= (p.Pro719=)
c.2260C= (p.Pro754=)
c.2167C= (p.Pro723=)
c.2266C= (p.Pro756=)
c.2296C= (p.Pro766=)
c.2287C= (p.Pro763=)
c.2257C= (p.Pro753=)
c.2200C= (p.Pro734=)
c.2146C= (p.Pro716=)
c.1939C= (p.Pro647=)
c.2353C= (p.Pro785=)
c.2347C= (p.Pro783=)
c.2344C= (p.Pro782=)
c.2404C= (p.Pro802=)
c.2395C= (p.Pro799=)
c.2314C= (p.Pro772=)
c.2263C= (p.Pro755=)
14g.33800552C>GCA389414277NPAS3c.2245C>G (p.Pro749Ala)
c.2254C>G (p.Pro752Ala)
c.2145C>G
c.793+2971C>G
c.2149C>G (p.Pro717Ala)
c.2206C>G (p.Pro736Ala)
c.2155C>G (p.Pro719Ala)
c.2260C>G (p.Pro754Ala)
c.2167C>G (p.Pro723Ala)
c.2266C>G (p.Pro756Ala)
c.2296C>G (p.Pro766Ala)
c.2287C>G (p.Pro763Ala)
c.2257C>G (p.Pro753Ala)
c.2200C>G (p.Pro734Ala)
c.2146C>G (p.Pro716Ala)
c.1939C>G (p.Pro647Ala)
c.2353C>G (p.Pro785Ala)
c.2347C>G (p.Pro783Ala)
c.2344C>G (p.Pro782Ala)
c.2404C>G (p.Pro802Ala)
c.2395C>G (p.Pro799Ala)
c.2314C>G (p.Pro772Ala)
c.2263C>G (p.Pro755Ala)
 dbSNP
14g.33800552C>TCA389414276NPAS3c.2245C>T (p.Pro749Ser)
c.2254C>T (p.Pro752Ser)
c.2145C>T
c.793+2971C>T
c.2149C>T (p.Pro717Ser)
c.2206C>T (p.Pro736Ser)
c.2155C>T (p.Pro719Ser)
c.2260C>T (p.Pro754Ser)
c.2167C>T (p.Pro723Ser)
c.2266C>T (p.Pro756Ser)
c.2296C>T (p.Pro766Ser)
c.2287C>T (p.Pro763Ser)
c.2257C>T (p.Pro753Ser)
c.2200C>T (p.Pro734Ser)
c.2146C>T (p.Pro716Ser)
c.1939C>T (p.Pro647Ser)
c.2353C>T (p.Pro785Ser)
c.2347C>T (p.Pro783Ser)
c.2344C>T (p.Pro782Ser)
c.2404C>T (p.Pro802Ser)
c.2395C>T (p.Pro799Ser)
c.2314C>T (p.Pro772Ser)
c.2263C>T (p.Pro755Ser)
 dbSNP gnomAD v4
14g.33800556dupCA2624512047NPAS3c.2249dup (p.Leu751AlafsTer?)
c.2258dup (p.Leu754AlafsTer?)
c.2149dup
c.793+2975dup
c.2153dup (p.Leu719AlafsTer?)
c.2210dup (p.Leu738AlafsTer?)
c.2159dup (p.Leu721AlafsTer?)
c.2264dup (p.Leu756AlafsTer?)
c.2171dup (p.Leu725AlafsTer?)
c.2270dup (p.Leu758AlafsTer?)
c.2300dup (p.Leu768AlafsTer?)
c.2291dup (p.Leu765AlafsTer?)
c.2261dup (p.Leu755AlafsTer?)
c.2204dup (p.Leu736AlafsTer?)
c.2150dup (p.Leu718AlafsTer?)
c.1943dup (p.Leu649AlafsTer?)
c.2357dup (p.Leu787AlafsTer?)
c.2351dup (p.Leu785AlafsTer?)
c.2348dup (p.Leu784AlafsTer?)
c.2408dup (p.Leu804AlafsTer?)
c.2399dup (p.Leu801AlafsTer?)
c.2318dup (p.Leu774AlafsTer?)
c.2267dup (p.Leu757AlafsTer?)
 gnomAD v4
14g.33800556delCA613803866NPAS3c.2249del (p.Pro750ArgfsTer?)
c.2258del (p.Pro753ArgfsTer?)
c.2149del
c.793+2975del
c.2153del (p.Pro718ArgfsTer?)
c.2210del (p.Pro737ArgfsTer?)
c.2159del (p.Pro720ArgfsTer?)
c.2264del (p.Pro755ArgfsTer?)
c.2171del (p.Pro724ArgfsTer?)
c.2270del (p.Pro757ArgfsTer?)
c.2300del (p.Pro767ArgfsTer?)
c.2291del (p.Pro764ArgfsTer?)
c.2261del (p.Pro754ArgfsTer?)
c.2204del (p.Pro735ArgfsTer?)
c.2150del (p.Pro717ArgfsTer?)
c.1943del (p.Pro648ArgfsTer?)
c.2357del (p.Pro786ArgfsTer?)
c.2351del (p.Pro784ArgfsTer?)
c.2348del (p.Pro783ArgfsTer?)
c.2408del (p.Pro803ArgfsTer?)
c.2399del (p.Pro800ArgfsTer?)
c.2318del (p.Pro773ArgfsTer?)
c.2267del (p.Pro756ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
14g.33800555_33800556delCA2801126440NPAS3c.2248_2249del (p.Pro750AlafsTer?)
c.2257_2258del (p.Pro753AlafsTer?)
c.2148_2149del
c.793+2974_793+2975del
c.2152_2153del (p.Pro718AlafsTer?)
c.2209_2210del (p.Pro737AlafsTer?)
c.2158_2159del (p.Pro720AlafsTer?)
c.2263_2264del (p.Pro755AlafsTer?)
c.2170_2171del (p.Pro724AlafsTer?)
c.2269_2270del (p.Pro757AlafsTer?)
c.2299_2300del (p.Pro767AlafsTer?)
c.2290_2291del (p.Pro764AlafsTer?)
c.2260_2261del (p.Pro754AlafsTer?)
c.2203_2204del (p.Pro735AlafsTer?)
c.2149_2150del (p.Pro717AlafsTer?)
c.1942_1943del (p.Pro648AlafsTer?)
c.2356_2357del (p.Pro786AlafsTer?)
c.2350_2351del (p.Pro784AlafsTer?)
c.2347_2348del (p.Pro783AlafsTer?)
c.2407_2408del (p.Pro803AlafsTer?)
c.2398_2399del (p.Pro800AlafsTer?)
c.2317_2318del (p.Pro773AlafsTer?)
c.2266_2267del (p.Pro756AlafsTer?)
14g.33800553C>ACA389414279NPAS3c.2246C>A (p.Pro749His)
c.2255C>A (p.Pro752His)
c.2146C>A
c.793+2972C>A
c.2150C>A (p.Pro717His)
c.2207C>A (p.Pro736His)
c.2156C>A (p.Pro719His)
c.2261C>A (p.Pro754His)
c.2168C>A (p.Pro723His)
c.2267C>A (p.Pro756His)
c.2297C>A (p.Pro766His)
c.2288C>A (p.Pro763His)
c.2258C>A (p.Pro753His)
c.2201C>A (p.Pro734His)
c.2147C>A (p.Pro716His)
c.1940C>A (p.Pro647His)
c.2354C>A (p.Pro785His)
c.2348C>A (p.Pro783His)
c.2345C>A (p.Pro782His)
c.2405C>A (p.Pro802His)
c.2396C>A (p.Pro799His)
c.2315C>A (p.Pro772His)
c.2264C>A (p.Pro755His)
 gnomAD v4
14g.33800553C>GCA389414280NPAS3c.2246C>G (p.Pro749Arg)
c.2255C>G (p.Pro752Arg)
c.2146C>G
c.793+2972C>G
c.2150C>G (p.Pro717Arg)
c.2207C>G (p.Pro736Arg)
c.2156C>G (p.Pro719Arg)
c.2261C>G (p.Pro754Arg)
c.2168C>G (p.Pro723Arg)
c.2267C>G (p.Pro756Arg)
c.2297C>G (p.Pro766Arg)
c.2288C>G (p.Pro763Arg)
c.2258C>G (p.Pro753Arg)
c.2201C>G (p.Pro734Arg)
c.2147C>G (p.Pro716Arg)
c.1940C>G (p.Pro647Arg)
c.2354C>G (p.Pro785Arg)
c.2348C>G (p.Pro783Arg)
c.2345C>G (p.Pro782Arg)
c.2405C>G (p.Pro802Arg)
c.2396C>G (p.Pro799Arg)
c.2315C>G (p.Pro772Arg)
c.2264C>G (p.Pro755Arg)
14g.33800553C>TCA389414281NPAS3c.2246C>T (p.Pro749Leu)
c.2255C>T (p.Pro752Leu)
c.2146C>T
c.793+2972C>T
c.2150C>T (p.Pro717Leu)
c.2207C>T (p.Pro736Leu)
c.2156C>T (p.Pro719Leu)
c.2261C>T (p.Pro754Leu)
c.2168C>T (p.Pro723Leu)
c.2267C>T (p.Pro756Leu)
c.2297C>T (p.Pro766Leu)
c.2288C>T (p.Pro763Leu)
c.2258C>T (p.Pro753Leu)
c.2201C>T (p.Pro734Leu)
c.2147C>T (p.Pro716Leu)
c.1940C>T (p.Pro647Leu)
c.2354C>T (p.Pro785Leu)
c.2348C>T (p.Pro783Leu)
c.2345C>T (p.Pro782Leu)
c.2405C>T (p.Pro802Leu)
c.2396C>T (p.Pro799Leu)
c.2315C>T (p.Pro772Leu)
c.2264C>T (p.Pro755Leu)
 gnomAD v4
14g.33800554C>ACA486093384NPAS3c.2247C>A (p.Pro749=)
c.2256C>A (p.Pro752=)
c.2147C>A
c.793+2973C>A
c.2151C>A (p.Pro717=)
c.2208C>A (p.Pro736=)
c.2157C>A (p.Pro719=)
c.2262C>A (p.Pro754=)
c.2169C>A (p.Pro723=)
c.2268C>A (p.Pro756=)
c.2298C>A (p.Pro766=)
c.2289C>A (p.Pro763=)
c.2259C>A (p.Pro753=)
c.2202C>A (p.Pro734=)
c.2148C>A (p.Pro716=)
c.1941C>A (p.Pro647=)
c.2355C>A (p.Pro785=)
c.2349C>A (p.Pro783=)
c.2346C>A (p.Pro782=)
c.2406C>A (p.Pro802=)
c.2397C>A (p.Pro799=)
c.2316C>A (p.Pro772=)
c.2265C>A (p.Pro755=)
 gnomAD v4
14g.33800554C=CA2128327726NPAS3c.2247C= (p.Pro749=)
c.2256C= (p.Pro752=)
c.2147C=
c.793+2973C=
c.2151C= (p.Pro717=)
c.2208C= (p.Pro736=)
c.2157C= (p.Pro719=)
c.2262C= (p.Pro754=)
c.2169C= (p.Pro723=)
c.2268C= (p.Pro756=)
c.2298C= (p.Pro766=)
c.2289C= (p.Pro763=)
c.2259C= (p.Pro753=)
c.2202C= (p.Pro734=)
c.2148C= (p.Pro716=)
c.1941C= (p.Pro647=)
c.2355C= (p.Pro785=)
c.2349C= (p.Pro783=)
c.2346C= (p.Pro782=)
c.2406C= (p.Pro802=)
c.2397C= (p.Pro799=)
c.2316C= (p.Pro772=)
c.2265C= (p.Pro755=)
14g.33800554C>GCA486093385NPAS3c.2247C>G (p.Pro749=)
c.2256C>G (p.Pro752=)
c.2147C>G
c.793+2973C>G
c.2151C>G (p.Pro717=)
c.2208C>G (p.Pro736=)
c.2157C>G (p.Pro719=)
c.2262C>G (p.Pro754=)
c.2169C>G (p.Pro723=)
c.2268C>G (p.Pro756=)
c.2298C>G (p.Pro766=)
c.2289C>G (p.Pro763=)
c.2259C>G (p.Pro753=)
c.2202C>G (p.Pro734=)
c.2148C>G (p.Pro716=)
c.1941C>G (p.Pro647=)
c.2355C>G (p.Pro785=)
c.2349C>G (p.Pro783=)
c.2346C>G (p.Pro782=)
c.2406C>G (p.Pro802=)
c.2397C>G (p.Pro799=)
c.2316C>G (p.Pro772=)
c.2265C>G (p.Pro755=)
 gnomAD v4
14g.33800554C>TCA486093386NPAS3c.2247C>T (p.Pro749=)
c.2256C>T (p.Pro752=)
c.2147C>T
c.793+2973C>T
c.2151C>T (p.Pro717=)
c.2208C>T (p.Pro736=)
c.2157C>T (p.Pro719=)
c.2262C>T (p.Pro754=)
c.2169C>T (p.Pro723=)
c.2268C>T (p.Pro756=)
c.2298C>T (p.Pro766=)
c.2289C>T (p.Pro763=)
c.2259C>T (p.Pro753=)
c.2202C>T (p.Pro734=)
c.2148C>T (p.Pro716=)
c.1941C>T (p.Pro647=)
c.2355C>T (p.Pro785=)
c.2349C>T (p.Pro783=)
c.2346C>T (p.Pro782=)
c.2406C>T (p.Pro802=)
c.2397C>T (p.Pro799=)
c.2316C>T (p.Pro772=)
c.2265C>T (p.Pro755=)
 dbSNP gnomAD v2 gnomAD v4
14g.33800555C>ACA389414282NPAS3c.2248C>A (p.Pro750Thr)
c.2257C>A (p.Pro753Thr)
c.2148C>A
c.793+2974C>A
c.2152C>A (p.Pro718Thr)
c.2209C>A (p.Pro737Thr)
c.2158C>A (p.Pro720Thr)
c.2263C>A (p.Pro755Thr)
c.2170C>A (p.Pro724Thr)
c.2269C>A (p.Pro757Thr)
c.2299C>A (p.Pro767Thr)
c.2290C>A (p.Pro764Thr)
c.2260C>A (p.Pro754Thr)
c.2203C>A (p.Pro735Thr)
c.2149C>A (p.Pro717Thr)
c.1942C>A (p.Pro648Thr)
c.2356C>A (p.Pro786Thr)
c.2350C>A (p.Pro784Thr)
c.2347C>A (p.Pro783Thr)
c.2407C>A (p.Pro803Thr)
c.2398C>A (p.Pro800Thr)
c.2317C>A (p.Pro773Thr)
c.2266C>A (p.Pro756Thr)
 gnomAD v4
14g.33800555C>GCA389414283NPAS3c.2248C>G (p.Pro750Ala)
c.2257C>G (p.Pro753Ala)
c.2148C>G
c.793+2974C>G
c.2152C>G (p.Pro718Ala)
c.2209C>G (p.Pro737Ala)
c.2158C>G (p.Pro720Ala)
c.2263C>G (p.Pro755Ala)
c.2170C>G (p.Pro724Ala)
c.2269C>G (p.Pro757Ala)
c.2299C>G (p.Pro767Ala)
c.2290C>G (p.Pro764Ala)
c.2260C>G (p.Pro754Ala)
c.2203C>G (p.Pro735Ala)
c.2149C>G (p.Pro717Ala)
c.1942C>G (p.Pro648Ala)
c.2356C>G (p.Pro786Ala)
c.2350C>G (p.Pro784Ala)
c.2347C>G (p.Pro783Ala)
c.2407C>G (p.Pro803Ala)
c.2398C>G (p.Pro800Ala)
c.2317C>G (p.Pro773Ala)
c.2266C>G (p.Pro756Ala)
 gnomAD v4
14g.33800555C>TCA389414284NPAS3c.2248C>T (p.Pro750Ser)
c.2257C>T (p.Pro753Ser)
c.2148C>T
c.793+2974C>T
c.2152C>T (p.Pro718Ser)
c.2209C>T (p.Pro737Ser)
c.2158C>T (p.Pro720Ser)
c.2263C>T (p.Pro755Ser)
c.2170C>T (p.Pro724Ser)
c.2269C>T (p.Pro757Ser)
c.2299C>T (p.Pro767Ser)
c.2290C>T (p.Pro764Ser)
c.2260C>T (p.Pro754Ser)
c.2203C>T (p.Pro735Ser)
c.2149C>T (p.Pro717Ser)
c.1942C>T (p.Pro648Ser)
c.2356C>T (p.Pro786Ser)
c.2350C>T (p.Pro784Ser)
c.2347C>T (p.Pro783Ser)
c.2407C>T (p.Pro803Ser)
c.2398C>T (p.Pro800Ser)
c.2317C>T (p.Pro773Ser)
c.2266C>T (p.Pro756Ser)
 gnomAD v4
14g.33800556C>ACA389414285NPAS3c.2249C>A (p.Pro750Gln)
c.2258C>A (p.Pro753Gln)
c.2149C>A
c.793+2975C>A
c.2153C>A (p.Pro718Gln)
c.2210C>A (p.Pro737Gln)
c.2159C>A (p.Pro720Gln)
c.2264C>A (p.Pro755Gln)
c.2171C>A (p.Pro724Gln)
c.2270C>A (p.Pro757Gln)
c.2300C>A (p.Pro767Gln)
c.2291C>A (p.Pro764Gln)
c.2261C>A (p.Pro754Gln)
c.2204C>A (p.Pro735Gln)
c.2150C>A (p.Pro717Gln)
c.1943C>A (p.Pro648Gln)
c.2357C>A (p.Pro786Gln)
c.2351C>A (p.Pro784Gln)
c.2348C>A (p.Pro783Gln)
c.2408C>A (p.Pro803Gln)
c.2399C>A (p.Pro800Gln)
c.2318C>A (p.Pro773Gln)
c.2267C>A (p.Pro756Gln)
 gnomAD v4
14g.33800556C=CA2128327731NPAS3c.2249C= (p.Pro750=)
c.2258C= (p.Pro753=)
c.2149C=
c.793+2975C=
c.2153C= (p.Pro718=)
c.2210C= (p.Pro737=)
c.2159C= (p.Pro720=)
c.2264C= (p.Pro755=)
c.2171C= (p.Pro724=)
c.2270C= (p.Pro757=)
c.2300C= (p.Pro767=)
c.2291C= (p.Pro764=)
c.2261C= (p.Pro754=)
c.2204C= (p.Pro735=)
c.2150C= (p.Pro717=)
c.1943C= (p.Pro648=)
c.2357C= (p.Pro786=)
c.2351C= (p.Pro784=)
c.2348C= (p.Pro783=)
c.2408C= (p.Pro803=)
c.2399C= (p.Pro800=)
c.2318C= (p.Pro773=)
c.2267C= (p.Pro756=)
14g.33800556C>GCA389414286NPAS3c.2249C>G (p.Pro750Arg)
c.2258C>G (p.Pro753Arg)
c.2149C>G
c.793+2975C>G
c.2153C>G (p.Pro718Arg)
c.2210C>G (p.Pro737Arg)
c.2159C>G (p.Pro720Arg)
c.2264C>G (p.Pro755Arg)
c.2171C>G (p.Pro724Arg)
c.2270C>G (p.Pro757Arg)
c.2300C>G (p.Pro767Arg)
c.2291C>G (p.Pro764Arg)
c.2261C>G (p.Pro754Arg)
c.2204C>G (p.Pro735Arg)
c.2150C>G (p.Pro717Arg)
c.1943C>G (p.Pro648Arg)
c.2357C>G (p.Pro786Arg)
c.2351C>G (p.Pro784Arg)
c.2348C>G (p.Pro783Arg)
c.2408C>G (p.Pro803Arg)
c.2399C>G (p.Pro800Arg)
c.2318C>G (p.Pro773Arg)
c.2267C>G (p.Pro756Arg)
 gnomAD v4
14g.33800556C>TCA389414287NPAS3c.2249C>T (p.Pro750Leu)
c.2258C>T (p.Pro753Leu)
c.2149C>T
c.793+2975C>T
c.2153C>T (p.Pro718Leu)
c.2210C>T (p.Pro737Leu)
c.2159C>T (p.Pro720Leu)
c.2264C>T (p.Pro755Leu)
c.2171C>T (p.Pro724Leu)
c.2270C>T (p.Pro757Leu)
c.2300C>T (p.Pro767Leu)
c.2291C>T (p.Pro764Leu)
c.2261C>T (p.Pro754Leu)
c.2204C>T (p.Pro735Leu)
c.2150C>T (p.Pro717Leu)
c.1943C>T (p.Pro648Leu)
c.2357C>T (p.Pro786Leu)
c.2351C>T (p.Pro784Leu)
c.2348C>T (p.Pro783Leu)
c.2408C>T (p.Pro803Leu)
c.2399C>T (p.Pro800Leu)
c.2318C>T (p.Pro773Leu)
c.2267C>T (p.Pro756Leu)
 dbSNP gnomAD v4
14g.33800557delCA2624512048NPAS3c.2250del (p.Leu751SerfsTer?)
c.2259del (p.Leu754SerfsTer?)
c.2150del
c.793+2976del
c.2154del (p.Leu719SerfsTer?)
c.2211del (p.Leu738SerfsTer?)
c.2160del (p.Leu721SerfsTer?)
c.2265del (p.Leu756SerfsTer?)
c.2172del (p.Leu725SerfsTer?)
c.2271del (p.Leu758SerfsTer?)
c.2301del (p.Leu768SerfsTer?)
c.2292del (p.Leu765SerfsTer?)
c.2262del (p.Leu755SerfsTer?)
c.2205del (p.Leu736SerfsTer?)
c.2151del (p.Leu718SerfsTer?)
c.1944del (p.Leu649SerfsTer?)
c.2358del (p.Leu787SerfsTer?)
c.2352del (p.Leu785SerfsTer?)
c.2349del (p.Leu784SerfsTer?)
c.2409del (p.Leu804SerfsTer?)
c.2400del (p.Leu801SerfsTer?)
c.2319del (p.Leu774SerfsTer?)
c.2268del (p.Leu757SerfsTer?)
 gnomAD v4
14g.33800557G>ACA486093391NPAS3c.2250G>A (p.Pro750=)
c.2259G>A (p.Pro753=)
c.2150G>A
c.793+2976G>A
c.2154G>A (p.Pro718=)
c.2211G>A (p.Pro737=)
c.2160G>A (p.Pro720=)
c.2265G>A (p.Pro755=)
c.2172G>A (p.Pro724=)
c.2271G>A (p.Pro757=)
c.2301G>A (p.Pro767=)
c.2292G>A (p.Pro764=)
c.2262G>A (p.Pro754=)
c.2205G>A (p.Pro735=)
c.2151G>A (p.Pro717=)
c.1944G>A (p.Pro648=)
c.2358G>A (p.Pro786=)
c.2352G>A (p.Pro784=)
c.2349G>A (p.Pro783=)
c.2409G>A (p.Pro803=)
c.2400G>A (p.Pro800=)
c.2319G>A (p.Pro773=)
c.2268G>A (p.Pro756=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800557G>CCA486093392NPAS3c.2250G>C (p.Pro750=)
c.2259G>C (p.Pro753=)
c.2150G>C
c.793+2976G>C
c.2154G>C (p.Pro718=)
c.2211G>C (p.Pro737=)
c.2160G>C (p.Pro720=)
c.2265G>C (p.Pro755=)
c.2172G>C (p.Pro724=)
c.2271G>C (p.Pro757=)
c.2301G>C (p.Pro767=)
c.2292G>C (p.Pro764=)
c.2262G>C (p.Pro754=)
c.2205G>C (p.Pro735=)
c.2151G>C (p.Pro717=)
c.1944G>C (p.Pro648=)
c.2358G>C (p.Pro786=)
c.2352G>C (p.Pro784=)
c.2349G>C (p.Pro783=)
c.2409G>C (p.Pro803=)
c.2400G>C (p.Pro800=)
c.2319G>C (p.Pro773=)
c.2268G>C (p.Pro756=)
 dbSNP
14g.33800557G=CA2128327734NPAS3c.2250G= (p.Pro750=)
c.2259G= (p.Pro753=)
c.2150G=
c.793+2976G=
c.2154G= (p.Pro718=)
c.2211G= (p.Pro737=)
c.2160G= (p.Pro720=)
c.2265G= (p.Pro755=)
c.2172G= (p.Pro724=)
c.2271G= (p.Pro757=)
c.2301G= (p.Pro767=)
c.2292G= (p.Pro764=)
c.2262G= (p.Pro754=)
c.2205G= (p.Pro735=)
c.2151G= (p.Pro717=)
c.1944G= (p.Pro648=)
c.2358G= (p.Pro786=)
c.2352G= (p.Pro784=)
c.2349G= (p.Pro783=)
c.2409G= (p.Pro803=)
c.2400G= (p.Pro800=)
c.2319G= (p.Pro773=)
c.2268G= (p.Pro756=)
14g.33800557G>TCA486093393NPAS3c.2250G>T (p.Pro750=)
c.2259G>T (p.Pro753=)
c.2150G>T
c.793+2976G>T
c.2154G>T (p.Pro718=)
c.2211G>T (p.Pro737=)
c.2160G>T (p.Pro720=)
c.2265G>T (p.Pro755=)
c.2172G>T (p.Pro724=)
c.2271G>T (p.Pro757=)
c.2301G>T (p.Pro767=)
c.2292G>T (p.Pro764=)
c.2262G>T (p.Pro754=)
c.2205G>T (p.Pro735=)
c.2151G>T (p.Pro717=)
c.1944G>T (p.Pro648=)
c.2358G>T (p.Pro786=)
c.2352G>T (p.Pro784=)
c.2349G>T (p.Pro783=)
c.2409G>T (p.Pro803=)
c.2400G>T (p.Pro800=)
c.2319G>T (p.Pro773=)
c.2268G>T (p.Pro756=)
 gnomAD v4
14g.33800558C>ACA389414288NPAS3c.2251C>A (p.Leu751Ile)
c.2260C>A (p.Leu754Ile)
c.2151C>A
c.793+2977C>A
c.2155C>A (p.Leu719Ile)
c.2212C>A (p.Leu738Ile)
c.2161C>A (p.Leu721Ile)
c.2266C>A (p.Leu756Ile)
c.2173C>A (p.Leu725Ile)
c.2272C>A (p.Leu758Ile)
c.2302C>A (p.Leu768Ile)
c.2293C>A (p.Leu765Ile)
c.2263C>A (p.Leu755Ile)
c.2206C>A (p.Leu736Ile)
c.2152C>A (p.Leu718Ile)
c.1945C>A (p.Leu649Ile)
c.2359C>A (p.Leu787Ile)
c.2353C>A (p.Leu785Ile)
c.2350C>A (p.Leu784Ile)
c.2410C>A (p.Leu804Ile)
c.2401C>A (p.Leu801Ile)
c.2320C>A (p.Leu774Ile)
c.2269C>A (p.Leu757Ile)
 gnomAD v4
14g.33800558C>GCA389414289NPAS3c.2251C>G (p.Leu751Val)
c.2260C>G (p.Leu754Val)
c.2151C>G
c.793+2977C>G
c.2155C>G (p.Leu719Val)
c.2212C>G (p.Leu738Val)
c.2161C>G (p.Leu721Val)
c.2266C>G (p.Leu756Val)
c.2173C>G (p.Leu725Val)
c.2272C>G (p.Leu758Val)
c.2302C>G (p.Leu768Val)
c.2293C>G (p.Leu765Val)
c.2263C>G (p.Leu755Val)
c.2206C>G (p.Leu736Val)
c.2152C>G (p.Leu718Val)
c.1945C>G (p.Leu649Val)
c.2359C>G (p.Leu787Val)
c.2353C>G (p.Leu785Val)
c.2350C>G (p.Leu784Val)
c.2410C>G (p.Leu804Val)
c.2401C>G (p.Leu801Val)
c.2320C>G (p.Leu774Val)
c.2269C>G (p.Leu757Val)
14g.33800558C>TCA389414290NPAS3c.2251C>T (p.Leu751Phe)
c.2260C>T (p.Leu754Phe)
c.2151C>T
c.793+2977C>T
c.2155C>T (p.Leu719Phe)
c.2212C>T (p.Leu738Phe)
c.2161C>T (p.Leu721Phe)
c.2266C>T (p.Leu756Phe)
c.2173C>T (p.Leu725Phe)
c.2272C>T (p.Leu758Phe)
c.2302C>T (p.Leu768Phe)
c.2293C>T (p.Leu765Phe)
c.2263C>T (p.Leu755Phe)
c.2206C>T (p.Leu736Phe)
c.2152C>T (p.Leu718Phe)
c.1945C>T (p.Leu649Phe)
c.2359C>T (p.Leu787Phe)
c.2353C>T (p.Leu785Phe)
c.2350C>T (p.Leu784Phe)
c.2410C>T (p.Leu804Phe)
c.2401C>T (p.Leu801Phe)
c.2320C>T (p.Leu774Phe)
c.2269C>T (p.Leu757Phe)
 gnomAD v4
14g.33800559T>ACA389414292NPAS3c.2252T>A (p.Leu751His)
c.2261T>A (p.Leu754His)
c.2152T>A
c.793+2978T>A
c.2156T>A (p.Leu719His)
c.2213T>A (p.Leu738His)
c.2162T>A (p.Leu721His)
c.2267T>A (p.Leu756His)
c.2174T>A (p.Leu725His)
c.2273T>A (p.Leu758His)
c.2303T>A (p.Leu768His)
c.2294T>A (p.Leu765His)
c.2264T>A (p.Leu755His)
c.2207T>A (p.Leu736His)
c.2153T>A (p.Leu718His)
c.1946T>A (p.Leu649His)
c.2360T>A (p.Leu787His)
c.2354T>A (p.Leu785His)
c.2351T>A (p.Leu784His)
c.2411T>A (p.Leu804His)
c.2402T>A (p.Leu801His)
c.2321T>A (p.Leu774His)
c.2270T>A (p.Leu757His)
14g.33800559T>CCA389414293NPAS3c.2252T>C (p.Leu751Pro)
c.2261T>C (p.Leu754Pro)
c.2152T>C
c.793+2978T>C
c.2156T>C (p.Leu719Pro)
c.2213T>C (p.Leu738Pro)
c.2162T>C (p.Leu721Pro)
c.2267T>C (p.Leu756Pro)
c.2174T>C (p.Leu725Pro)
c.2273T>C (p.Leu758Pro)
c.2303T>C (p.Leu768Pro)
c.2294T>C (p.Leu765Pro)
c.2264T>C (p.Leu755Pro)
c.2207T>C (p.Leu736Pro)
c.2153T>C (p.Leu718Pro)
c.1946T>C (p.Leu649Pro)
c.2360T>C (p.Leu787Pro)
c.2354T>C (p.Leu785Pro)
c.2351T>C (p.Leu784Pro)
c.2411T>C (p.Leu804Pro)
c.2402T>C (p.Leu801Pro)
c.2321T>C (p.Leu774Pro)
c.2270T>C (p.Leu757Pro)
 gnomAD v4
14g.33800559T>GCA389414291NPAS3c.2252T>G (p.Leu751Arg)
c.2261T>G (p.Leu754Arg)
c.2152T>G
c.793+2978T>G
c.2156T>G (p.Leu719Arg)
c.2213T>G (p.Leu738Arg)
c.2162T>G (p.Leu721Arg)
c.2267T>G (p.Leu756Arg)
c.2174T>G (p.Leu725Arg)
c.2273T>G (p.Leu758Arg)
c.2303T>G (p.Leu768Arg)
c.2294T>G (p.Leu765Arg)
c.2264T>G (p.Leu755Arg)
c.2207T>G (p.Leu736Arg)
c.2153T>G (p.Leu718Arg)
c.1946T>G (p.Leu649Arg)
c.2360T>G (p.Leu787Arg)
c.2354T>G (p.Leu785Arg)
c.2351T>G (p.Leu784Arg)
c.2411T>G (p.Leu804Arg)
c.2402T>G (p.Leu801Arg)
c.2321T>G (p.Leu774Arg)
c.2270T>G (p.Leu757Arg)
 gnomAD v4
14g.33800560C>ACA486093395NPAS3c.2253C>A (p.Leu751=)
c.2262C>A (p.Leu754=)
c.2153C>A
c.793+2979C>A
c.2157C>A (p.Leu719=)
c.2214C>A (p.Leu738=)
c.2163C>A (p.Leu721=)
c.2268C>A (p.Leu756=)
c.2175C>A (p.Leu725=)
c.2274C>A (p.Leu758=)
c.2304C>A (p.Leu768=)
c.2295C>A (p.Leu765=)
c.2265C>A (p.Leu755=)
c.2208C>A (p.Leu736=)
c.2154C>A (p.Leu718=)
c.1947C>A (p.Leu649=)
c.2361C>A (p.Leu787=)
c.2355C>A (p.Leu785=)
c.2352C>A (p.Leu784=)
c.2412C>A (p.Leu804=)
c.2403C>A (p.Leu801=)
c.2322C>A (p.Leu774=)
c.2271C>A (p.Leu757=)
 dbSNP gnomAD v4
14g.33800560C=CA2128327966NPAS3c.2253C= (p.Leu751=)
c.2262C= (p.Leu754=)
c.2153C=
c.793+2979C=
c.2157C= (p.Leu719=)
c.2214C= (p.Leu738=)
c.2163C= (p.Leu721=)
c.2268C= (p.Leu756=)
c.2175C= (p.Leu725=)
c.2274C= (p.Leu758=)
c.2304C= (p.Leu768=)
c.2295C= (p.Leu765=)
c.2265C= (p.Leu755=)
c.2208C= (p.Leu736=)
c.2154C= (p.Leu718=)
c.1947C= (p.Leu649=)
c.2361C= (p.Leu787=)
c.2355C= (p.Leu785=)
c.2352C= (p.Leu784=)
c.2412C= (p.Leu804=)
c.2403C= (p.Leu801=)
c.2322C= (p.Leu774=)
c.2271C= (p.Leu757=)
14g.33800560C>GCA486093397NPAS3c.2253C>G (p.Leu751=)
c.2262C>G (p.Leu754=)
c.2153C>G
c.793+2979C>G
c.2157C>G (p.Leu719=)
c.2214C>G (p.Leu738=)
c.2163C>G (p.Leu721=)
c.2268C>G (p.Leu756=)
c.2175C>G (p.Leu725=)
c.2274C>G (p.Leu758=)
c.2304C>G (p.Leu768=)
c.2295C>G (p.Leu765=)
c.2265C>G (p.Leu755=)
c.2208C>G (p.Leu736=)
c.2154C>G (p.Leu718=)
c.1947C>G (p.Leu649=)
c.2361C>G (p.Leu787=)
c.2355C>G (p.Leu785=)
c.2352C>G (p.Leu784=)
c.2412C>G (p.Leu804=)
c.2403C>G (p.Leu801=)
c.2322C>G (p.Leu774=)
c.2271C>G (p.Leu757=)
 gnomAD v4
14g.33800560C>TCA486093399NPAS3c.2253C>T (p.Leu751=)
c.2262C>T (p.Leu754=)
c.2153C>T
c.793+2979C>T
c.2157C>T (p.Leu719=)
c.2214C>T (p.Leu738=)
c.2163C>T (p.Leu721=)
c.2268C>T (p.Leu756=)
c.2175C>T (p.Leu725=)
c.2274C>T (p.Leu758=)
c.2304C>T (p.Leu768=)
c.2295C>T (p.Leu765=)
c.2265C>T (p.Leu755=)
c.2208C>T (p.Leu736=)
c.2154C>T (p.Leu718=)
c.1947C>T (p.Leu649=)
c.2361C>T (p.Leu787=)
c.2355C>T (p.Leu785=)
c.2352C>T (p.Leu784=)
c.2412C>T (p.Leu804=)
c.2403C>T (p.Leu801=)
c.2322C>T (p.Leu774=)
c.2271C>T (p.Leu757=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800561T>ACA389414294NPAS3c.2254T>A (p.Ser752Thr)
c.2263T>A (p.Ser755Thr)
c.2154T>A
c.793+2980T>A
c.2158T>A (p.Ser720Thr)
c.2215T>A (p.Ser739Thr)
c.2164T>A (p.Ser722Thr)
c.2269T>A (p.Ser757Thr)
c.2176T>A (p.Ser726Thr)
c.2275T>A (p.Ser759Thr)
c.2305T>A (p.Ser769Thr)
c.2296T>A (p.Ser766Thr)
c.2266T>A (p.Ser756Thr)
c.2209T>A (p.Ser737Thr)
c.2155T>A (p.Ser719Thr)
c.1948T>A (p.Ser650Thr)
c.2362T>A (p.Ser788Thr)
c.2356T>A (p.Ser786Thr)
c.2353T>A (p.Ser785Thr)
c.2413T>A (p.Ser805Thr)
c.2404T>A (p.Ser802Thr)
c.2323T>A (p.Ser775Thr)
c.2272T>A (p.Ser758Thr)
 gnomAD v4
14g.33800561T>CCA389414295NPAS3c.2254T>C (p.Ser752Pro)
c.2263T>C (p.Ser755Pro)
c.2154T>C
c.793+2980T>C
c.2158T>C (p.Ser720Pro)
c.2215T>C (p.Ser739Pro)
c.2164T>C (p.Ser722Pro)
c.2269T>C (p.Ser757Pro)
c.2176T>C (p.Ser726Pro)
c.2275T>C (p.Ser759Pro)
c.2305T>C (p.Ser769Pro)
c.2296T>C (p.Ser766Pro)
c.2266T>C (p.Ser756Pro)
c.2209T>C (p.Ser737Pro)
c.2155T>C (p.Ser719Pro)
c.1948T>C (p.Ser650Pro)
c.2362T>C (p.Ser788Pro)
c.2356T>C (p.Ser786Pro)
c.2353T>C (p.Ser785Pro)
c.2413T>C (p.Ser805Pro)
c.2404T>C (p.Ser802Pro)
c.2323T>C (p.Ser775Pro)
c.2272T>C (p.Ser758Pro)
 gnomAD v4
14g.33800561T>GCA389414296NPAS3c.2254T>G (p.Ser752Ala)
c.2263T>G (p.Ser755Ala)
c.2154T>G
c.793+2980T>G
c.2158T>G (p.Ser720Ala)
c.2215T>G (p.Ser739Ala)
c.2164T>G (p.Ser722Ala)
c.2269T>G (p.Ser757Ala)
c.2176T>G (p.Ser726Ala)
c.2275T>G (p.Ser759Ala)
c.2305T>G (p.Ser769Ala)
c.2296T>G (p.Ser766Ala)
c.2266T>G (p.Ser756Ala)
c.2209T>G (p.Ser737Ala)
c.2155T>G (p.Ser719Ala)
c.1948T>G (p.Ser650Ala)
c.2362T>G (p.Ser788Ala)
c.2356T>G (p.Ser786Ala)
c.2353T>G (p.Ser785Ala)
c.2413T>G (p.Ser805Ala)
c.2404T>G (p.Ser802Ala)
c.2323T>G (p.Ser775Ala)
c.2272T>G (p.Ser758Ala)
 ClinVar gnomAD v4
14g.33800562delCA2624512049NPAS3c.2255del (p.Ser752TrpfsTer?)
c.2264del (p.Ser755TrpfsTer?)
c.2155del
c.793+2981del
c.2159del (p.Ser720TrpfsTer?)
c.2216del (p.Ser739TrpfsTer?)
c.2165del (p.Ser722TrpfsTer?)
c.2270del (p.Ser757TrpfsTer?)
c.2177del (p.Ser726TrpfsTer?)
c.2276del (p.Ser759TrpfsTer?)
c.2306del (p.Ser769TrpfsTer?)
c.2297del (p.Ser766TrpfsTer?)
c.2267del (p.Ser756TrpfsTer?)
c.2210del (p.Ser737TrpfsTer?)
c.2156del (p.Ser719TrpfsTer?)
c.1949del (p.Ser650TrpfsTer?)
c.2363del (p.Ser788TrpfsTer?)
c.2357del (p.Ser786TrpfsTer?)
c.2354del (p.Ser785TrpfsTer?)
c.2414del (p.Ser805TrpfsTer?)
c.2405del (p.Ser802TrpfsTer?)
c.2324del (p.Ser775TrpfsTer?)
c.2273del (p.Ser758TrpfsTer?)
 gnomAD v4
14g.33800562C>ACA389414297NPAS3c.2255C>A (p.Ser752Ter)
c.2264C>A (p.Ser755Ter)
c.2155C>A
c.793+2981C>A
c.2159C>A (p.Ser720Ter)
c.2216C>A (p.Ser739Ter)
c.2165C>A (p.Ser722Ter)
c.2270C>A (p.Ser757Ter)
c.2177C>A (p.Ser726Ter)
c.2276C>A (p.Ser759Ter)
c.2306C>A (p.Ser769Ter)
c.2297C>A (p.Ser766Ter)
c.2267C>A (p.Ser756Ter)
c.2210C>A (p.Ser737Ter)
c.2156C>A (p.Ser719Ter)
c.1949C>A (p.Ser650Ter)
c.2363C>A (p.Ser788Ter)
c.2357C>A (p.Ser786Ter)
c.2354C>A (p.Ser785Ter)
c.2414C>A (p.Ser805Ter)
c.2405C>A (p.Ser802Ter)
c.2324C>A (p.Ser775Ter)
c.2273C>A (p.Ser758Ter)
 gnomAD v4
14g.33800562C>GCA389414298NPAS3c.2255C>G (p.Ser752Trp)
c.2264C>G (p.Ser755Trp)
c.2155C>G
c.793+2981C>G
c.2159C>G (p.Ser720Trp)
c.2216C>G (p.Ser739Trp)
c.2165C>G (p.Ser722Trp)
c.2270C>G (p.Ser757Trp)
c.2177C>G (p.Ser726Trp)
c.2276C>G (p.Ser759Trp)
c.2306C>G (p.Ser769Trp)
c.2297C>G (p.Ser766Trp)
c.2267C>G (p.Ser756Trp)
c.2210C>G (p.Ser737Trp)
c.2156C>G (p.Ser719Trp)
c.1949C>G (p.Ser650Trp)
c.2363C>G (p.Ser788Trp)
c.2357C>G (p.Ser786Trp)
c.2354C>G (p.Ser785Trp)
c.2414C>G (p.Ser805Trp)
c.2405C>G (p.Ser802Trp)
c.2324C>G (p.Ser775Trp)
c.2273C>G (p.Ser758Trp)
 ClinVar gnomAD v4
14g.33800562C>TCA389414299NPAS3c.2255C>T (p.Ser752Leu)
c.2264C>T (p.Ser755Leu)
c.2155C>T
c.793+2981C>T
c.2159C>T (p.Ser720Leu)
c.2216C>T (p.Ser739Leu)
c.2165C>T (p.Ser722Leu)
c.2270C>T (p.Ser757Leu)
c.2177C>T (p.Ser726Leu)
c.2276C>T (p.Ser759Leu)
c.2306C>T (p.Ser769Leu)
c.2297C>T (p.Ser766Leu)
c.2267C>T (p.Ser756Leu)
c.2210C>T (p.Ser737Leu)
c.2156C>T (p.Ser719Leu)
c.1949C>T (p.Ser650Leu)
c.2363C>T (p.Ser788Leu)
c.2357C>T (p.Ser786Leu)
c.2354C>T (p.Ser785Leu)
c.2414C>T (p.Ser805Leu)
c.2405C>T (p.Ser802Leu)
c.2324C>T (p.Ser775Leu)
c.2273C>T (p.Ser758Leu)
 gnomAD v4
14g.33800563G>ACA7150965NPAS3c.2256G>A (p.Ser752=)
c.2265G>A (p.Ser755=)
c.2156G>A
c.793+2982G>A
c.2160G>A (p.Ser720=)
c.2217G>A (p.Ser739=)
c.2166G>A (p.Ser722=)
c.2271G>A (p.Ser757=)
c.2178G>A (p.Ser726=)
c.2277G>A (p.Ser759=)
c.2307G>A (p.Ser769=)
c.2298G>A (p.Ser766=)
c.2268G>A (p.Ser756=)
c.2211G>A (p.Ser737=)
c.2157G>A (p.Ser719=)
c.1950G>A (p.Ser650=)
c.2364G>A (p.Ser788=)
c.2358G>A (p.Ser786=)
c.2355G>A (p.Ser785=)
c.2415G>A (p.Ser805=)
c.2406G>A (p.Ser802=)
c.2325G>A (p.Ser775=)
c.2274G>A (p.Ser758=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800563G>CCA486093401NPAS3c.2256G>C (p.Ser752=)
c.2265G>C (p.Ser755=)
c.2156G>C
c.793+2982G>C
c.2160G>C (p.Ser720=)
c.2217G>C (p.Ser739=)
c.2166G>C (p.Ser722=)
c.2271G>C (p.Ser757=)
c.2178G>C (p.Ser726=)
c.2277G>C (p.Ser759=)
c.2307G>C (p.Ser769=)
c.2298G>C (p.Ser766=)
c.2268G>C (p.Ser756=)
c.2211G>C (p.Ser737=)
c.2157G>C (p.Ser719=)
c.1950G>C (p.Ser650=)
c.2364G>C (p.Ser788=)
c.2358G>C (p.Ser786=)
c.2355G>C (p.Ser785=)
c.2415G>C (p.Ser805=)
c.2406G>C (p.Ser802=)
c.2325G>C (p.Ser775=)
c.2274G>C (p.Ser758=)
 gnomAD v4
14g.33800563G=CA2128327972NPAS3c.2256G= (p.Ser752=)
c.2265G= (p.Ser755=)
c.2156G=
c.793+2982G=
c.2160G= (p.Ser720=)
c.2217G= (p.Ser739=)
c.2166G= (p.Ser722=)
c.2271G= (p.Ser757=)
c.2178G= (p.Ser726=)
c.2277G= (p.Ser759=)
c.2307G= (p.Ser769=)
c.2298G= (p.Ser766=)
c.2268G= (p.Ser756=)
c.2211G= (p.Ser737=)
c.2157G= (p.Ser719=)
c.1950G= (p.Ser650=)
c.2364G= (p.Ser788=)
c.2358G= (p.Ser786=)
c.2355G= (p.Ser785=)
c.2415G= (p.Ser805=)
c.2406G= (p.Ser802=)
c.2325G= (p.Ser775=)
c.2274G= (p.Ser758=)
14g.33800563G>TCA486093402NPAS3c.2256G>T (p.Ser752=)
c.2265G>T (p.Ser755=)
c.2156G>T
c.793+2982G>T
c.2160G>T (p.Ser720=)
c.2217G>T (p.Ser739=)
c.2166G>T (p.Ser722=)
c.2271G>T (p.Ser757=)
c.2178G>T (p.Ser726=)
c.2277G>T (p.Ser759=)
c.2307G>T (p.Ser769=)
c.2298G>T (p.Ser766=)
c.2268G>T (p.Ser756=)
c.2211G>T (p.Ser737=)
c.2157G>T (p.Ser719=)
c.1950G>T (p.Ser650=)
c.2364G>T (p.Ser788=)
c.2358G>T (p.Ser786=)
c.2355G>T (p.Ser785=)
c.2415G>T (p.Ser805=)
c.2406G>T (p.Ser802=)
c.2325G>T (p.Ser775=)
c.2274G>T (p.Ser758=)
 dbSNP gnomAD v4
14g.33800564G>ACA389414300NPAS3c.2257G>A (p.Ala753Thr)
c.2266G>A (p.Ala756Thr)
c.2157G>A
c.793+2983G>A
c.2161G>A (p.Ala721Thr)
c.2218G>A (p.Ala740Thr)
c.2167G>A (p.Ala723Thr)
c.2272G>A (p.Ala758Thr)
c.2179G>A (p.Ala727Thr)
c.2278G>A (p.Ala760Thr)
c.2308G>A (p.Ala770Thr)
c.2299G>A (p.Ala767Thr)
c.2269G>A (p.Ala757Thr)
c.2212G>A (p.Ala738Thr)
c.2158G>A (p.Ala720Thr)
c.1951G>A (p.Ala651Thr)
c.2365G>A (p.Ala789Thr)
c.2359G>A (p.Ala787Thr)
c.2356G>A (p.Ala786Thr)
c.2416G>A (p.Ala806Thr)
c.2407G>A (p.Ala803Thr)
c.2326G>A (p.Ala776Thr)
c.2275G>A (p.Ala759Thr)
 gnomAD v4
14g.33800564G>CCA389414301NPAS3c.2257G>C (p.Ala753Pro)
c.2266G>C (p.Ala756Pro)
c.2157G>C
c.793+2983G>C
c.2161G>C (p.Ala721Pro)
c.2218G>C (p.Ala740Pro)
c.2167G>C (p.Ala723Pro)
c.2272G>C (p.Ala758Pro)
c.2179G>C (p.Ala727Pro)
c.2278G>C (p.Ala760Pro)
c.2308G>C (p.Ala770Pro)
c.2299G>C (p.Ala767Pro)
c.2269G>C (p.Ala757Pro)
c.2212G>C (p.Ala738Pro)
c.2158G>C (p.Ala720Pro)
c.1951G>C (p.Ala651Pro)
c.2365G>C (p.Ala789Pro)
c.2359G>C (p.Ala787Pro)
c.2356G>C (p.Ala786Pro)
c.2416G>C (p.Ala806Pro)
c.2407G>C (p.Ala803Pro)
c.2326G>C (p.Ala776Pro)
c.2275G>C (p.Ala759Pro)
14g.33800564G>TCA389414302NPAS3c.2257G>T (p.Ala753Ser)
c.2266G>T (p.Ala756Ser)
c.2157G>T
c.793+2983G>T
c.2161G>T (p.Ala721Ser)
c.2218G>T (p.Ala740Ser)
c.2167G>T (p.Ala723Ser)
c.2272G>T (p.Ala758Ser)
c.2179G>T (p.Ala727Ser)
c.2278G>T (p.Ala760Ser)
c.2308G>T (p.Ala770Ser)
c.2299G>T (p.Ala767Ser)
c.2269G>T (p.Ala757Ser)
c.2212G>T (p.Ala738Ser)
c.2158G>T (p.Ala720Ser)
c.1951G>T (p.Ala651Ser)
c.2365G>T (p.Ala789Ser)
c.2359G>T (p.Ala787Ser)
c.2356G>T (p.Ala786Ser)
c.2416G>T (p.Ala806Ser)
c.2407G>T (p.Ala803Ser)
c.2326G>T (p.Ala776Ser)
c.2275G>T (p.Ala759Ser)
 gnomAD v4
14g.33800567_33800574delCA2624512050NPAS3c.2260_2267del (p.Ser754GlyfsTer?)
c.2269_2276del (p.Ser757GlyfsTer?)
c.2160_2167del
c.793+2986_793+2993del
c.2164_2171del (p.Ser722GlyfsTer?)
c.2221_2228del (p.Ser741GlyfsTer?)
c.2170_2177del (p.Ser724GlyfsTer?)
c.2275_2282del (p.Ser759GlyfsTer?)
c.2182_2189del (p.Ser728GlyfsTer?)
c.2281_2288del (p.Ser761GlyfsTer?)
c.2311_2318del (p.Ser771GlyfsTer?)
c.2302_2309del (p.Ser768GlyfsTer?)
c.2272_2279del (p.Ser758GlyfsTer?)
c.2215_2222del (p.Ser739GlyfsTer?)
c.2161_2168del (p.Ser721GlyfsTer?)
c.1954_1961del (p.Ser652GlyfsTer?)
c.2368_2375del (p.Ser790GlyfsTer?)
c.2362_2369del (p.Ser788GlyfsTer?)
c.2359_2366del (p.Ser787GlyfsTer?)
c.2419_2426del (p.Ser807GlyfsTer?)
c.2410_2417del (p.Ser804GlyfsTer?)
c.2329_2336del (p.Ser777GlyfsTer?)
c.2278_2285del (p.Ser760GlyfsTer?)
 gnomAD v4
14g.33800565C>ACA389414303NPAS3c.2258C>A (p.Ala753Glu)
c.2267C>A (p.Ala756Glu)
c.2158C>A
c.793+2984C>A
c.2162C>A (p.Ala721Glu)
c.2219C>A (p.Ala740Glu)
c.2168C>A (p.Ala723Glu)
c.2273C>A (p.Ala758Glu)
c.2180C>A (p.Ala727Glu)
c.2279C>A (p.Ala760Glu)
c.2309C>A (p.Ala770Glu)
c.2300C>A (p.Ala767Glu)
c.2270C>A (p.Ala757Glu)
c.2213C>A (p.Ala738Glu)
c.2159C>A (p.Ala720Glu)
c.1952C>A (p.Ala651Glu)
c.2366C>A (p.Ala789Glu)
c.2360C>A (p.Ala787Glu)
c.2357C>A (p.Ala786Glu)
c.2417C>A (p.Ala806Glu)
c.2408C>A (p.Ala803Glu)
c.2327C>A (p.Ala776Glu)
c.2276C>A (p.Ala759Glu)
 dbSNP gnomAD v4
14g.33800565C=CA2128327978NPAS3c.2258C= (p.Ala753=)
c.2267C= (p.Ala756=)
c.2158C=
c.793+2984C=
c.2162C= (p.Ala721=)
c.2219C= (p.Ala740=)
c.2168C= (p.Ala723=)
c.2273C= (p.Ala758=)
c.2180C= (p.Ala727=)
c.2279C= (p.Ala760=)
c.2309C= (p.Ala770=)
c.2300C= (p.Ala767=)
c.2270C= (p.Ala757=)
c.2213C= (p.Ala738=)
c.2159C= (p.Ala720=)
c.1952C= (p.Ala651=)
c.2366C= (p.Ala789=)
c.2360C= (p.Ala787=)
c.2357C= (p.Ala786=)
c.2417C= (p.Ala806=)
c.2408C= (p.Ala803=)
c.2327C= (p.Ala776=)
c.2276C= (p.Ala759=)
14g.33800565C>GCA389414304NPAS3c.2258C>G (p.Ala753Gly)
c.2267C>G (p.Ala756Gly)
c.2158C>G
c.793+2984C>G
c.2162C>G (p.Ala721Gly)
c.2219C>G (p.Ala740Gly)
c.2168C>G (p.Ala723Gly)
c.2273C>G (p.Ala758Gly)
c.2180C>G (p.Ala727Gly)
c.2279C>G (p.Ala760Gly)
c.2309C>G (p.Ala770Gly)
c.2300C>G (p.Ala767Gly)
c.2270C>G (p.Ala757Gly)
c.2213C>G (p.Ala738Gly)
c.2159C>G (p.Ala720Gly)
c.1952C>G (p.Ala651Gly)
c.2366C>G (p.Ala789Gly)
c.2360C>G (p.Ala787Gly)
c.2357C>G (p.Ala786Gly)
c.2417C>G (p.Ala806Gly)
c.2408C>G (p.Ala803Gly)
c.2327C>G (p.Ala776Gly)
c.2276C>G (p.Ala759Gly)
14g.33800565C>TCA389414305NPAS3c.2258C>T (p.Ala753Val)
c.2267C>T (p.Ala756Val)
c.2158C>T
c.793+2984C>T
c.2162C>T (p.Ala721Val)
c.2219C>T (p.Ala740Val)
c.2168C>T (p.Ala723Val)
c.2273C>T (p.Ala758Val)
c.2180C>T (p.Ala727Val)
c.2279C>T (p.Ala760Val)
c.2309C>T (p.Ala770Val)
c.2300C>T (p.Ala767Val)
c.2270C>T (p.Ala757Val)
c.2213C>T (p.Ala738Val)
c.2159C>T (p.Ala720Val)
c.1952C>T (p.Ala651Val)
c.2366C>T (p.Ala789Val)
c.2360C>T (p.Ala787Val)
c.2357C>T (p.Ala786Val)
c.2417C>T (p.Ala806Val)
c.2408C>T (p.Ala803Val)
c.2327C>T (p.Ala776Val)
c.2276C>T (p.Ala759Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800566G>ACA486093406NPAS3c.2259G>A (p.Ala753=)
c.2268G>A (p.Ala756=)
c.2159G>A
c.793+2985G>A
c.2163G>A (p.Ala721=)
c.2220G>A (p.Ala740=)
c.2169G>A (p.Ala723=)
c.2274G>A (p.Ala758=)
c.2181G>A (p.Ala727=)
c.2280G>A (p.Ala760=)
c.2310G>A (p.Ala770=)
c.2301G>A (p.Ala767=)
c.2271G>A (p.Ala757=)
c.2214G>A (p.Ala738=)
c.2160G>A (p.Ala720=)
c.1953G>A (p.Ala651=)
c.2367G>A (p.Ala789=)
c.2361G>A (p.Ala787=)
c.2358G>A (p.Ala786=)
c.2418G>A (p.Ala806=)
c.2409G>A (p.Ala803=)
c.2328G>A (p.Ala776=)
c.2277G>A (p.Ala759=)
 dbSNP gnomAD v4
14g.33800566G>CCA486093407NPAS3c.2259G>C (p.Ala753=)
c.2268G>C (p.Ala756=)
c.2159G>C
c.793+2985G>C
c.2163G>C (p.Ala721=)
c.2220G>C (p.Ala740=)
c.2169G>C (p.Ala723=)
c.2274G>C (p.Ala758=)
c.2181G>C (p.Ala727=)
c.2280G>C (p.Ala760=)
c.2310G>C (p.Ala770=)
c.2301G>C (p.Ala767=)
c.2271G>C (p.Ala757=)
c.2214G>C (p.Ala738=)
c.2160G>C (p.Ala720=)
c.1953G>C (p.Ala651=)
c.2367G>C (p.Ala789=)
c.2361G>C (p.Ala787=)
c.2358G>C (p.Ala786=)
c.2418G>C (p.Ala806=)
c.2409G>C (p.Ala803=)
c.2328G>C (p.Ala776=)
c.2277G>C (p.Ala759=)
 dbSNP gnomAD v4
14g.33800566G=CA2128327981NPAS3c.2259G= (p.Ala753=)
c.2268G= (p.Ala756=)
c.2159G=
c.793+2985G=
c.2163G= (p.Ala721=)
c.2220G= (p.Ala740=)
c.2169G= (p.Ala723=)
c.2274G= (p.Ala758=)
c.2181G= (p.Ala727=)
c.2280G= (p.Ala760=)
c.2310G= (p.Ala770=)
c.2301G= (p.Ala767=)
c.2271G= (p.Ala757=)
c.2214G= (p.Ala738=)
c.2160G= (p.Ala720=)
c.1953G= (p.Ala651=)
c.2367G= (p.Ala789=)
c.2361G= (p.Ala787=)
c.2358G= (p.Ala786=)
c.2418G= (p.Ala806=)
c.2409G= (p.Ala803=)
c.2328G= (p.Ala776=)
c.2277G= (p.Ala759=)
14g.33800566G>TCA486093410NPAS3c.2259G>T (p.Ala753=)
c.2268G>T (p.Ala756=)
c.2159G>T
c.793+2985G>T
c.2163G>T (p.Ala721=)
c.2220G>T (p.Ala740=)
c.2169G>T (p.Ala723=)
c.2274G>T (p.Ala758=)
c.2181G>T (p.Ala727=)
c.2280G>T (p.Ala760=)
c.2310G>T (p.Ala770=)
c.2301G>T (p.Ala767=)
c.2271G>T (p.Ala757=)
c.2214G>T (p.Ala738=)
c.2160G>T (p.Ala720=)
c.1953G>T (p.Ala651=)
c.2367G>T (p.Ala789=)
c.2361G>T (p.Ala787=)
c.2358G>T (p.Ala786=)
c.2418G>T (p.Ala806=)
c.2409G>T (p.Ala803=)
c.2328G>T (p.Ala776=)
c.2277G>T (p.Ala759=)
 gnomAD v4
14g.33800567T>ACA389414306NPAS3c.2260T>A (p.Ser754Thr)
c.2269T>A (p.Ser757Thr)
c.2160T>A
c.793+2986T>A
c.2164T>A (p.Ser722Thr)
c.2221T>A (p.Ser741Thr)
c.2170T>A (p.Ser724Thr)
c.2275T>A (p.Ser759Thr)
c.2182T>A (p.Ser728Thr)
c.2281T>A (p.Ser761Thr)
c.2311T>A (p.Ser771Thr)
c.2302T>A (p.Ser768Thr)
c.2272T>A (p.Ser758Thr)
c.2215T>A (p.Ser739Thr)
c.2161T>A (p.Ser721Thr)
c.1954T>A (p.Ser652Thr)
c.2368T>A (p.Ser790Thr)
c.2362T>A (p.Ser788Thr)
c.2359T>A (p.Ser787Thr)
c.2419T>A (p.Ser807Thr)
c.2410T>A (p.Ser804Thr)
c.2329T>A (p.Ser777Thr)
c.2278T>A (p.Ser760Thr)
14g.33800567T>CCA389414308NPAS3c.2260T>C (p.Ser754Pro)
c.2269T>C (p.Ser757Pro)
c.2160T>C
c.793+2986T>C
c.2164T>C (p.Ser722Pro)
c.2221T>C (p.Ser741Pro)
c.2170T>C (p.Ser724Pro)
c.2275T>C (p.Ser759Pro)
c.2182T>C (p.Ser728Pro)
c.2281T>C (p.Ser761Pro)
c.2311T>C (p.Ser771Pro)
c.2302T>C (p.Ser768Pro)
c.2272T>C (p.Ser758Pro)
c.2215T>C (p.Ser739Pro)
c.2161T>C (p.Ser721Pro)
c.1954T>C (p.Ser652Pro)
c.2368T>C (p.Ser790Pro)
c.2362T>C (p.Ser788Pro)
c.2359T>C (p.Ser787Pro)
c.2419T>C (p.Ser807Pro)
c.2410T>C (p.Ser804Pro)
c.2329T>C (p.Ser777Pro)
c.2278T>C (p.Ser760Pro)
 gnomAD v4
14g.33800567T>GCA389414307NPAS3c.2260T>G (p.Ser754Ala)
c.2269T>G (p.Ser757Ala)
c.2160T>G
c.793+2986T>G
c.2164T>G (p.Ser722Ala)
c.2221T>G (p.Ser741Ala)
c.2170T>G (p.Ser724Ala)
c.2275T>G (p.Ser759Ala)
c.2182T>G (p.Ser728Ala)
c.2281T>G (p.Ser761Ala)
c.2311T>G (p.Ser771Ala)
c.2302T>G (p.Ser768Ala)
c.2272T>G (p.Ser758Ala)
c.2215T>G (p.Ser739Ala)
c.2161T>G (p.Ser721Ala)
c.1954T>G (p.Ser652Ala)
c.2368T>G (p.Ser790Ala)
c.2362T>G (p.Ser788Ala)
c.2359T>G (p.Ser787Ala)
c.2419T>G (p.Ser807Ala)
c.2410T>G (p.Ser804Ala)
c.2329T>G (p.Ser777Ala)
c.2278T>G (p.Ser760Ala)
14g.33800567_33800568delinsTCCA2128327984NPAS3c.2260_2261delinsTC (p.Ser754=)
c.2269_2270delinsTC (p.Ser757=)
c.2160_2161delinsTC
c.793+2986_793+2987delinsTC
c.2164_2165delinsTC (p.Ser722=)
c.2221_2222delinsTC (p.Ser741=)
c.2170_2171delinsTC (p.Ser724=)
c.2275_2276delinsTC (p.Ser759=)
c.2182_2183delinsTC (p.Ser728=)
c.2281_2282delinsTC (p.Ser761=)
c.2311_2312delinsTC (p.Ser771=)
c.2302_2303delinsTC (p.Ser768=)
c.2272_2273delinsTC (p.Ser758=)
c.2215_2216delinsTC (p.Ser739=)
c.2161_2162delinsTC (p.Ser721=)
c.1954_1955delinsTC (p.Ser652=)
c.2368_2369delinsTC (p.Ser790=)
c.2362_2363delinsTC (p.Ser788=)
c.2359_2360delinsTC (p.Ser787=)
c.2419_2420delinsTC (p.Ser807=)
c.2410_2411delinsTC (p.Ser804=)
c.2329_2330delinsTC (p.Ser777=)
c.2278_2279delinsTC (p.Ser760=)
14g.33800568C>ACA389414309NPAS3c.2261C>A (p.Ser754Tyr)
c.2270C>A (p.Ser757Tyr)
c.2161C>A
c.793+2987C>A
c.2165C>A (p.Ser722Tyr)
c.2222C>A (p.Ser741Tyr)
c.2171C>A (p.Ser724Tyr)
c.2276C>A (p.Ser759Tyr)
c.2183C>A (p.Ser728Tyr)
c.2282C>A (p.Ser761Tyr)
c.2312C>A (p.Ser771Tyr)
c.2303C>A (p.Ser768Tyr)
c.2273C>A (p.Ser758Tyr)
c.2216C>A (p.Ser739Tyr)
c.2162C>A (p.Ser721Tyr)
c.1955C>A (p.Ser652Tyr)
c.2369C>A (p.Ser790Tyr)
c.2363C>A (p.Ser788Tyr)
c.2360C>A (p.Ser787Tyr)
c.2420C>A (p.Ser807Tyr)
c.2411C>A (p.Ser804Tyr)
c.2330C>A (p.Ser777Tyr)
c.2279C>A (p.Ser760Tyr)
 gnomAD v4
14g.33800568C>GCA389414310NPAS3c.2261C>G (p.Ser754Cys)
c.2270C>G (p.Ser757Cys)
c.2161C>G
c.793+2987C>G
c.2165C>G (p.Ser722Cys)
c.2222C>G (p.Ser741Cys)
c.2171C>G (p.Ser724Cys)
c.2276C>G (p.Ser759Cys)
c.2183C>G (p.Ser728Cys)
c.2282C>G (p.Ser761Cys)
c.2312C>G (p.Ser771Cys)
c.2303C>G (p.Ser768Cys)
c.2273C>G (p.Ser758Cys)
c.2216C>G (p.Ser739Cys)
c.2162C>G (p.Ser721Cys)
c.1955C>G (p.Ser652Cys)
c.2369C>G (p.Ser790Cys)
c.2363C>G (p.Ser788Cys)
c.2360C>G (p.Ser787Cys)
c.2420C>G (p.Ser807Cys)
c.2411C>G (p.Ser804Cys)
c.2330C>G (p.Ser777Cys)
c.2279C>G (p.Ser760Cys)
 gnomAD v4
14g.33800568C>TCA389414311NPAS3c.2261C>T (p.Ser754Phe)
c.2270C>T (p.Ser757Phe)
c.2161C>T
c.793+2987C>T
c.2165C>T (p.Ser722Phe)
c.2222C>T (p.Ser741Phe)
c.2171C>T (p.Ser724Phe)
c.2276C>T (p.Ser759Phe)
c.2183C>T (p.Ser728Phe)
c.2282C>T (p.Ser761Phe)
c.2312C>T (p.Ser771Phe)
c.2303C>T (p.Ser768Phe)
c.2273C>T (p.Ser758Phe)
c.2216C>T (p.Ser739Phe)
c.2162C>T (p.Ser721Phe)
c.1955C>T (p.Ser652Phe)
c.2369C>T (p.Ser790Phe)
c.2363C>T (p.Ser788Phe)
c.2360C>T (p.Ser787Phe)
c.2420C>T (p.Ser807Phe)
c.2411C>T (p.Ser804Phe)
c.2330C>T (p.Ser777Phe)
c.2279C>T (p.Ser760Phe)
 gnomAD v4
14g.33800571delCA613803867NPAS3c.2264del (p.Pro755ArgfsTer?)
c.2273del (p.Pro758ArgfsTer?)
c.2164del
c.793+2990del
c.2168del (p.Pro723ArgfsTer?)
c.2225del (p.Pro742ArgfsTer?)
c.2174del (p.Pro725ArgfsTer?)
c.2279del (p.Pro760ArgfsTer?)
c.2186del (p.Pro729ArgfsTer?)
c.2285del (p.Pro762ArgfsTer?)
c.2315del (p.Pro772ArgfsTer?)
c.2306del (p.Pro769ArgfsTer?)
c.2276del (p.Pro759ArgfsTer?)
c.2219del (p.Pro740ArgfsTer?)
c.2165del (p.Pro722ArgfsTer?)
c.1958del (p.Pro653ArgfsTer?)
c.2372del (p.Pro791ArgfsTer?)
c.2366del (p.Pro789ArgfsTer?)
c.2363del (p.Pro788ArgfsTer?)
c.2423del (p.Pro808ArgfsTer?)
c.2414del (p.Pro805ArgfsTer?)
c.2333del (p.Pro778ArgfsTer?)
c.2282del (p.Pro761ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
14g.33800569C>ACA486093413NPAS3c.2262C>A (p.Ser754=)
c.2271C>A (p.Ser757=)
c.2162C>A
c.793+2988C>A
c.2166C>A (p.Ser722=)
c.2223C>A (p.Ser741=)
c.2172C>A (p.Ser724=)
c.2277C>A (p.Ser759=)
c.2184C>A (p.Ser728=)
c.2283C>A (p.Ser761=)
c.2313C>A (p.Ser771=)
c.2304C>A (p.Ser768=)
c.2274C>A (p.Ser758=)
c.2217C>A (p.Ser739=)
c.2163C>A (p.Ser721=)
c.1956C>A (p.Ser652=)
c.2370C>A (p.Ser790=)
c.2364C>A (p.Ser788=)
c.2361C>A (p.Ser787=)
c.2421C>A (p.Ser807=)
c.2412C>A (p.Ser804=)
c.2331C>A (p.Ser777=)
c.2280C>A (p.Ser760=)
 gnomAD v4
14g.33800569C=CA2128327989NPAS3c.2262C= (p.Ser754=)
c.2271C= (p.Ser757=)
c.2162C=
c.793+2988C=
c.2166C= (p.Ser722=)
c.2223C= (p.Ser741=)
c.2172C= (p.Ser724=)
c.2277C= (p.Ser759=)
c.2184C= (p.Ser728=)
c.2283C= (p.Ser761=)
c.2313C= (p.Ser771=)
c.2304C= (p.Ser768=)
c.2274C= (p.Ser758=)
c.2217C= (p.Ser739=)
c.2163C= (p.Ser721=)
c.1956C= (p.Ser652=)
c.2370C= (p.Ser790=)
c.2364C= (p.Ser788=)
c.2361C= (p.Ser787=)
c.2421C= (p.Ser807=)
c.2412C= (p.Ser804=)
c.2331C= (p.Ser777=)
c.2280C= (p.Ser760=)
14g.33800569C>GCA7150966NPAS3c.2262C>G (p.Ser754=)
c.2271C>G (p.Ser757=)
c.2162C>G
c.793+2988C>G
c.2166C>G (p.Ser722=)
c.2223C>G (p.Ser741=)
c.2172C>G (p.Ser724=)
c.2277C>G (p.Ser759=)
c.2184C>G (p.Ser728=)
c.2283C>G (p.Ser761=)
c.2313C>G (p.Ser771=)
c.2304C>G (p.Ser768=)
c.2274C>G (p.Ser758=)
c.2217C>G (p.Ser739=)
c.2163C>G (p.Ser721=)
c.1956C>G (p.Ser652=)
c.2370C>G (p.Ser790=)
c.2364C>G (p.Ser788=)
c.2361C>G (p.Ser787=)
c.2421C>G (p.Ser807=)
c.2412C>G (p.Ser804=)
c.2331C>G (p.Ser777=)
c.2280C>G (p.Ser760=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800569C>TCA486093415NPAS3c.2262C>T (p.Ser754=)
c.2271C>T (p.Ser757=)
c.2162C>T
c.793+2988C>T
c.2166C>T (p.Ser722=)
c.2223C>T (p.Ser741=)
c.2172C>T (p.Ser724=)
c.2277C>T (p.Ser759=)
c.2184C>T (p.Ser728=)
c.2283C>T (p.Ser761=)
c.2313C>T (p.Ser771=)
c.2304C>T (p.Ser768=)
c.2274C>T (p.Ser758=)
c.2217C>T (p.Ser739=)
c.2163C>T (p.Ser721=)
c.1956C>T (p.Ser652=)
c.2370C>T (p.Ser790=)
c.2364C>T (p.Ser788=)
c.2361C>T (p.Ser787=)
c.2421C>T (p.Ser807=)
c.2412C>T (p.Ser804=)
c.2331C>T (p.Ser777=)
c.2280C>T (p.Ser760=)
 dbSNP gnomAD v4
14g.33800570C>ACA389414312NPAS3c.2263C>A (p.Pro755Thr)
c.2272C>A (p.Pro758Thr)
c.2163C>A
c.793+2989C>A
c.2167C>A (p.Pro723Thr)
c.2224C>A (p.Pro742Thr)
c.2173C>A (p.Pro725Thr)
c.2278C>A (p.Pro760Thr)
c.2185C>A (p.Pro729Thr)
c.2284C>A (p.Pro762Thr)
c.2314C>A (p.Pro772Thr)
c.2305C>A (p.Pro769Thr)
c.2275C>A (p.Pro759Thr)
c.2218C>A (p.Pro740Thr)
c.2164C>A (p.Pro722Thr)
c.1957C>A (p.Pro653Thr)
c.2371C>A (p.Pro791Thr)
c.2365C>A (p.Pro789Thr)
c.2362C>A (p.Pro788Thr)
c.2422C>A (p.Pro808Thr)
c.2413C>A (p.Pro805Thr)
c.2332C>A (p.Pro778Thr)
c.2281C>A (p.Pro761Thr)
 gnomAD v4
14g.33800570C>GCA389414313NPAS3c.2263C>G (p.Pro755Ala)
c.2272C>G (p.Pro758Ala)
c.2163C>G
c.793+2989C>G
c.2167C>G (p.Pro723Ala)
c.2224C>G (p.Pro742Ala)
c.2173C>G (p.Pro725Ala)
c.2278C>G (p.Pro760Ala)
c.2185C>G (p.Pro729Ala)
c.2284C>G (p.Pro762Ala)
c.2314C>G (p.Pro772Ala)
c.2305C>G (p.Pro769Ala)
c.2275C>G (p.Pro759Ala)
c.2218C>G (p.Pro740Ala)
c.2164C>G (p.Pro722Ala)
c.1957C>G (p.Pro653Ala)
c.2371C>G (p.Pro791Ala)
c.2365C>G (p.Pro789Ala)
c.2362C>G (p.Pro788Ala)
c.2422C>G (p.Pro808Ala)
c.2413C>G (p.Pro805Ala)
c.2332C>G (p.Pro778Ala)
c.2281C>G (p.Pro761Ala)
14g.33800570C>TCA389414314NPAS3c.2263C>T (p.Pro755Ser)
c.2272C>T (p.Pro758Ser)
c.2163C>T
c.793+2989C>T
c.2167C>T (p.Pro723Ser)
c.2224C>T (p.Pro742Ser)
c.2173C>T (p.Pro725Ser)
c.2278C>T (p.Pro760Ser)
c.2185C>T (p.Pro729Ser)
c.2284C>T (p.Pro762Ser)
c.2314C>T (p.Pro772Ser)
c.2305C>T (p.Pro769Ser)
c.2275C>T (p.Pro759Ser)
c.2218C>T (p.Pro740Ser)
c.2164C>T (p.Pro722Ser)
c.1957C>T (p.Pro653Ser)
c.2371C>T (p.Pro791Ser)
c.2365C>T (p.Pro789Ser)
c.2362C>T (p.Pro788Ser)
c.2422C>T (p.Pro808Ser)
c.2413C>T (p.Pro805Ser)
c.2332C>T (p.Pro778Ser)
c.2281C>T (p.Pro761Ser)
 gnomAD v4
14g.33800571C>ACA389414317NPAS3c.2264C>A (p.Pro755Gln)
c.2273C>A (p.Pro758Gln)
c.2164C>A
c.793+2990C>A
c.2168C>A (p.Pro723Gln)
c.2225C>A (p.Pro742Gln)
c.2174C>A (p.Pro725Gln)
c.2279C>A (p.Pro760Gln)
c.2186C>A (p.Pro729Gln)
c.2285C>A (p.Pro762Gln)
c.2315C>A (p.Pro772Gln)
c.2306C>A (p.Pro769Gln)
c.2276C>A (p.Pro759Gln)
c.2219C>A (p.Pro740Gln)
c.2165C>A (p.Pro722Gln)
c.1958C>A (p.Pro653Gln)
c.2372C>A (p.Pro791Gln)
c.2366C>A (p.Pro789Gln)
c.2363C>A (p.Pro788Gln)
c.2423C>A (p.Pro808Gln)
c.2414C>A (p.Pro805Gln)
c.2333C>A (p.Pro778Gln)
c.2282C>A (p.Pro761Gln)
 gnomAD v4
14g.33800571C=CA2128327992NPAS3c.2264C= (p.Pro755=)
c.2273C= (p.Pro758=)
c.2164C=
c.793+2990C=
c.2168C= (p.Pro723=)
c.2225C= (p.Pro742=)
c.2174C= (p.Pro725=)
c.2279C= (p.Pro760=)
c.2186C= (p.Pro729=)
c.2285C= (p.Pro762=)
c.2315C= (p.Pro772=)
c.2306C= (p.Pro769=)
c.2276C= (p.Pro759=)
c.2219C= (p.Pro740=)
c.2165C= (p.Pro722=)
c.1958C= (p.Pro653=)
c.2372C= (p.Pro791=)
c.2366C= (p.Pro789=)
c.2363C= (p.Pro788=)
c.2423C= (p.Pro808=)
c.2414C= (p.Pro805=)
c.2333C= (p.Pro778=)
c.2282C= (p.Pro761=)
14g.33800571C>GCA389414315NPAS3c.2264C>G (p.Pro755Arg)
c.2273C>G (p.Pro758Arg)
c.2164C>G
c.793+2990C>G
c.2168C>G (p.Pro723Arg)
c.2225C>G (p.Pro742Arg)
c.2174C>G (p.Pro725Arg)
c.2279C>G (p.Pro760Arg)
c.2186C>G (p.Pro729Arg)
c.2285C>G (p.Pro762Arg)
c.2315C>G (p.Pro772Arg)
c.2306C>G (p.Pro769Arg)
c.2276C>G (p.Pro759Arg)
c.2219C>G (p.Pro740Arg)
c.2165C>G (p.Pro722Arg)
c.1958C>G (p.Pro653Arg)
c.2372C>G (p.Pro791Arg)
c.2366C>G (p.Pro789Arg)
c.2363C>G (p.Pro788Arg)
c.2423C>G (p.Pro808Arg)
c.2414C>G (p.Pro805Arg)
c.2333C>G (p.Pro778Arg)
c.2282C>G (p.Pro761Arg)
14g.33800571C>TCA389414316NPAS3c.2264C>T (p.Pro755Leu)
c.2273C>T (p.Pro758Leu)
c.2164C>T
c.793+2990C>T
c.2168C>T (p.Pro723Leu)
c.2225C>T (p.Pro742Leu)
c.2174C>T (p.Pro725Leu)
c.2279C>T (p.Pro760Leu)
c.2186C>T (p.Pro729Leu)
c.2285C>T (p.Pro762Leu)
c.2315C>T (p.Pro772Leu)
c.2306C>T (p.Pro769Leu)
c.2276C>T (p.Pro759Leu)
c.2219C>T (p.Pro740Leu)
c.2165C>T (p.Pro722Leu)
c.1958C>T (p.Pro653Leu)
c.2372C>T (p.Pro791Leu)
c.2366C>T (p.Pro789Leu)
c.2363C>T (p.Pro788Leu)
c.2423C>T (p.Pro808Leu)
c.2414C>T (p.Pro805Leu)
c.2333C>T (p.Pro778Leu)
c.2282C>T (p.Pro761Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800572G>ACA258719237NPAS3c.2265G>A (p.Pro755=)
c.2274G>A (p.Pro758=)
c.2165G>A
c.793+2991G>A
c.2169G>A (p.Pro723=)
c.2226G>A (p.Pro742=)
c.2175G>A (p.Pro725=)
c.2280G>A (p.Pro760=)
c.2187G>A (p.Pro729=)
c.2286G>A (p.Pro762=)
c.2316G>A (p.Pro772=)
c.2307G>A (p.Pro769=)
c.2277G>A (p.Pro759=)
c.2220G>A (p.Pro740=)
c.2166G>A (p.Pro722=)
c.1959G>A (p.Pro653=)
c.2373G>A (p.Pro791=)
c.2367G>A (p.Pro789=)
c.2364G>A (p.Pro788=)
c.2424G>A (p.Pro808=)
c.2415G>A (p.Pro805=)
c.2334G>A (p.Pro778=)
c.2283G>A (p.Pro761=)
 dbSNP gnomAD v4
14g.33800572G>CCA486093417NPAS3c.2265G>C (p.Pro755=)
c.2274G>C (p.Pro758=)
c.2165G>C
c.793+2991G>C
c.2169G>C (p.Pro723=)
c.2226G>C (p.Pro742=)
c.2175G>C (p.Pro725=)
c.2280G>C (p.Pro760=)
c.2187G>C (p.Pro729=)
c.2286G>C (p.Pro762=)
c.2316G>C (p.Pro772=)
c.2307G>C (p.Pro769=)
c.2277G>C (p.Pro759=)
c.2220G>C (p.Pro740=)
c.2166G>C (p.Pro722=)
c.1959G>C (p.Pro653=)
c.2373G>C (p.Pro791=)
c.2367G>C (p.Pro789=)
c.2364G>C (p.Pro788=)
c.2424G>C (p.Pro808=)
c.2415G>C (p.Pro805=)
c.2334G>C (p.Pro778=)
c.2283G>C (p.Pro761=)
14g.33800572G=CA2128327995NPAS3c.2265G= (p.Pro755=)
c.2274G= (p.Pro758=)
c.2165G=
c.793+2991G=
c.2169G= (p.Pro723=)
c.2226G= (p.Pro742=)
c.2175G= (p.Pro725=)
c.2280G= (p.Pro760=)
c.2187G= (p.Pro729=)
c.2286G= (p.Pro762=)
c.2316G= (p.Pro772=)
c.2307G= (p.Pro769=)
c.2277G= (p.Pro759=)
c.2220G= (p.Pro740=)
c.2166G= (p.Pro722=)
c.1959G= (p.Pro653=)
c.2373G= (p.Pro791=)
c.2367G= (p.Pro789=)
c.2364G= (p.Pro788=)
c.2424G= (p.Pro808=)
c.2415G= (p.Pro805=)
c.2334G= (p.Pro778=)
c.2283G= (p.Pro761=)
14g.33800572G>TCA486093421NPAS3c.2265G>T (p.Pro755=)
c.2274G>T (p.Pro758=)
c.2165G>T
c.793+2991G>T
c.2169G>T (p.Pro723=)
c.2226G>T (p.Pro742=)
c.2175G>T (p.Pro725=)
c.2280G>T (p.Pro760=)
c.2187G>T (p.Pro729=)
c.2286G>T (p.Pro762=)
c.2316G>T (p.Pro772=)
c.2307G>T (p.Pro769=)
c.2277G>T (p.Pro759=)
c.2220G>T (p.Pro740=)
c.2166G>T (p.Pro722=)
c.1959G>T (p.Pro653=)
c.2373G>T (p.Pro791=)
c.2367G>T (p.Pro789=)
c.2364G>T (p.Pro788=)
c.2424G>T (p.Pro808=)
c.2415G>T (p.Pro805=)
c.2334G>T (p.Pro778=)
c.2283G>T (p.Pro761=)
 gnomAD v4
14g.33800573C>ACA486093424NPAS3c.2266C>A (p.Arg756=)
c.2275C>A (p.Arg759=)
c.2166C>A
c.793+2992C>A
c.2170C>A (p.Arg724=)
c.2227C>A (p.Arg743=)
c.2176C>A (p.Arg726=)
c.2281C>A (p.Arg761=)
c.2188C>A (p.Arg730=)
c.2287C>A (p.Arg763=)
c.2317C>A (p.Arg773=)
c.2308C>A (p.Arg770=)
c.2278C>A (p.Arg760=)
c.2221C>A (p.Arg741=)
c.2167C>A (p.Arg723=)
c.1960C>A (p.Arg654=)
c.2374C>A (p.Arg792=)
c.2368C>A (p.Arg790=)
c.2365C>A (p.Arg789=)
c.2425C>A (p.Arg809=)
c.2416C>A (p.Arg806=)
c.2335C>A (p.Arg779=)
c.2284C>A (p.Arg762=)
 gnomAD v4
14g.33800573C>GCA389414318NPAS3c.2266C>G (p.Arg756Gly)
c.2275C>G (p.Arg759Gly)
c.2166C>G
c.793+2992C>G
c.2170C>G (p.Arg724Gly)
c.2227C>G (p.Arg743Gly)
c.2176C>G (p.Arg726Gly)
c.2281C>G (p.Arg761Gly)
c.2188C>G (p.Arg730Gly)
c.2287C>G (p.Arg763Gly)
c.2317C>G (p.Arg773Gly)
c.2308C>G (p.Arg770Gly)
c.2278C>G (p.Arg760Gly)
c.2221C>G (p.Arg741Gly)
c.2167C>G (p.Arg723Gly)
c.1960C>G (p.Arg654Gly)
c.2374C>G (p.Arg792Gly)
c.2368C>G (p.Arg790Gly)
c.2365C>G (p.Arg789Gly)
c.2425C>G (p.Arg809Gly)
c.2416C>G (p.Arg806Gly)
c.2335C>G (p.Arg779Gly)
c.2284C>G (p.Arg762Gly)
 gnomAD v4
14g.33800573C>TCA389414319NPAS3c.2266C>T (p.Arg756Trp)
c.2275C>T (p.Arg759Trp)
c.2166C>T
c.793+2992C>T
c.2170C>T (p.Arg724Trp)
c.2227C>T (p.Arg743Trp)
c.2176C>T (p.Arg726Trp)
c.2281C>T (p.Arg761Trp)
c.2188C>T (p.Arg730Trp)
c.2287C>T (p.Arg763Trp)
c.2317C>T (p.Arg773Trp)
c.2308C>T (p.Arg770Trp)
c.2278C>T (p.Arg760Trp)
c.2221C>T (p.Arg741Trp)
c.2167C>T (p.Arg723Trp)
c.1960C>T (p.Arg654Trp)
c.2374C>T (p.Arg792Trp)
c.2368C>T (p.Arg790Trp)
c.2365C>T (p.Arg789Trp)
c.2425C>T (p.Arg809Trp)
c.2416C>T (p.Arg806Trp)
c.2335C>T (p.Arg779Trp)
c.2284C>T (p.Arg762Trp)
 dbSNP gnomAD v3 gnomAD v4
14g.33800574_33800585delCA2624512051NPAS3c.2267_2278del (p.Arg756_His759del)
c.2276_2287del (p.Arg759_His762del)
c.2167_2178del
c.793+2993_793+3004del
c.2171_2182del (p.Arg724_His727del)
c.2228_2239del (p.Arg743_His746del)
c.2177_2188del (p.Arg726_His729del)
c.2282_2293del (p.Arg761_His764del)
c.2189_2200del (p.Arg730_His733del)
c.2288_2299del (p.Arg763_His766del)
c.2318_2329del (p.Arg773_His776del)
c.2309_2320del (p.Arg770_His773del)
c.2279_2290del (p.Arg760_His763del)
c.2222_2233del (p.Arg741_His744del)
c.2168_2179del (p.Arg723_His726del)
c.1961_1972del (p.Arg654_His657del)
c.2375_2386del (p.Arg792_His795del)
c.2369_2380del (p.Arg790_His793del)
c.2366_2377del (p.Arg789_His792del)
c.2426_2437del (p.Arg809_His812del)
c.2417_2428del (p.Arg806_His809del)
c.2336_2347del (p.Arg779_His782del)
c.2285_2296del (p.Arg762_His765del)
 gnomAD v4
14g.33800574G>ACA258719238NPAS3c.2267G>A (p.Arg756Gln)
c.2276G>A (p.Arg759Gln)
c.2167G>A
c.793+2993G>A
c.2171G>A (p.Arg724Gln)
c.2228G>A (p.Arg743Gln)
c.2177G>A (p.Arg726Gln)
c.2282G>A (p.Arg761Gln)
c.2189G>A (p.Arg730Gln)
c.2288G>A (p.Arg763Gln)
c.2318G>A (p.Arg773Gln)
c.2309G>A (p.Arg770Gln)
c.2279G>A (p.Arg760Gln)
c.2222G>A (p.Arg741Gln)
c.2168G>A (p.Arg723Gln)
c.1961G>A (p.Arg654Gln)
c.2375G>A (p.Arg792Gln)
c.2369G>A (p.Arg790Gln)
c.2366G>A (p.Arg789Gln)
c.2426G>A (p.Arg809Gln)
c.2417G>A (p.Arg806Gln)
c.2336G>A (p.Arg779Gln)
c.2285G>A (p.Arg762Gln)
 dbSNP gnomAD v3 gnomAD v4
14g.33800574G>CCA389414320NPAS3c.2267G>C (p.Arg756Pro)
c.2276G>C (p.Arg759Pro)
c.2167G>C
c.793+2993G>C
c.2171G>C (p.Arg724Pro)
c.2228G>C (p.Arg743Pro)
c.2177G>C (p.Arg726Pro)
c.2282G>C (p.Arg761Pro)
c.2189G>C (p.Arg730Pro)
c.2288G>C (p.Arg763Pro)
c.2318G>C (p.Arg773Pro)
c.2309G>C (p.Arg770Pro)
c.2279G>C (p.Arg760Pro)
c.2222G>C (p.Arg741Pro)
c.2168G>C (p.Arg723Pro)
c.1961G>C (p.Arg654Pro)
c.2375G>C (p.Arg792Pro)
c.2369G>C (p.Arg790Pro)
c.2366G>C (p.Arg789Pro)
c.2426G>C (p.Arg809Pro)
c.2417G>C (p.Arg806Pro)
c.2336G>C (p.Arg779Pro)
c.2285G>C (p.Arg762Pro)
14g.33800574G=CA2128327998NPAS3c.2267G= (p.Arg756=)
c.2276G= (p.Arg759=)
c.2167G=
c.793+2993G=
c.2171G= (p.Arg724=)
c.2228G= (p.Arg743=)
c.2177G= (p.Arg726=)
c.2282G= (p.Arg761=)
c.2189G= (p.Arg730=)
c.2288G= (p.Arg763=)
c.2318G= (p.Arg773=)
c.2309G= (p.Arg770=)
c.2279G= (p.Arg760=)
c.2222G= (p.Arg741=)
c.2168G= (p.Arg723=)
c.1961G= (p.Arg654=)
c.2375G= (p.Arg792=)
c.2369G= (p.Arg790=)
c.2366G= (p.Arg789=)
c.2426G= (p.Arg809=)
c.2417G= (p.Arg806=)
c.2336G= (p.Arg779=)
c.2285G= (p.Arg762=)
14g.33800574G>TCA389414321NPAS3c.2267G>T (p.Arg756Leu)
c.2276G>T (p.Arg759Leu)
c.2167G>T
c.793+2993G>T
c.2171G>T (p.Arg724Leu)
c.2228G>T (p.Arg743Leu)
c.2177G>T (p.Arg726Leu)
c.2282G>T (p.Arg761Leu)
c.2189G>T (p.Arg730Leu)
c.2288G>T (p.Arg763Leu)
c.2318G>T (p.Arg773Leu)
c.2309G>T (p.Arg770Leu)
c.2279G>T (p.Arg760Leu)
c.2222G>T (p.Arg741Leu)
c.2168G>T (p.Arg723Leu)
c.1961G>T (p.Arg654Leu)
c.2375G>T (p.Arg792Leu)
c.2369G>T (p.Arg790Leu)
c.2366G>T (p.Arg789Leu)
c.2426G>T (p.Arg809Leu)
c.2417G>T (p.Arg806Leu)
c.2336G>T (p.Arg779Leu)
c.2285G>T (p.Arg762Leu)
 gnomAD v4
14g.33800575G>ACA486093425NPAS3c.2268G>A (p.Arg756=)
c.2277G>A (p.Arg759=)
c.2168G>A
c.793+2994G>A
c.2172G>A (p.Arg724=)
c.2229G>A (p.Arg743=)
c.2178G>A (p.Arg726=)
c.2283G>A (p.Arg761=)
c.2190G>A (p.Arg730=)
c.2289G>A (p.Arg763=)
c.2319G>A (p.Arg773=)
c.2310G>A (p.Arg770=)
c.2280G>A (p.Arg760=)
c.2223G>A (p.Arg741=)
c.2169G>A (p.Arg723=)
c.1962G>A (p.Arg654=)
c.2376G>A (p.Arg792=)
c.2370G>A (p.Arg790=)
c.2367G>A (p.Arg789=)
c.2427G>A (p.Arg809=)
c.2418G>A (p.Arg806=)
c.2337G>A (p.Arg779=)
c.2286G>A (p.Arg762=)
 dbSNP gnomAD v4
14g.33800575G>CCA486093427NPAS3c.2268G>C (p.Arg756=)
c.2277G>C (p.Arg759=)
c.2168G>C
c.793+2994G>C
c.2172G>C (p.Arg724=)
c.2229G>C (p.Arg743=)
c.2178G>C (p.Arg726=)
c.2283G>C (p.Arg761=)
c.2190G>C (p.Arg730=)
c.2289G>C (p.Arg763=)
c.2319G>C (p.Arg773=)
c.2310G>C (p.Arg770=)
c.2280G>C (p.Arg760=)
c.2223G>C (p.Arg741=)
c.2169G>C (p.Arg723=)
c.1962G>C (p.Arg654=)
c.2376G>C (p.Arg792=)
c.2370G>C (p.Arg790=)
c.2367G>C (p.Arg789=)
c.2427G>C (p.Arg809=)
c.2418G>C (p.Arg806=)
c.2337G>C (p.Arg779=)
c.2286G>C (p.Arg762=)
14g.33800575G=CA2128328000NPAS3c.2268G= (p.Arg756=)
c.2277G= (p.Arg759=)
c.2168G=
c.793+2994G=
c.2172G= (p.Arg724=)
c.2229G= (p.Arg743=)
c.2178G= (p.Arg726=)
c.2283G= (p.Arg761=)
c.2190G= (p.Arg730=)
c.2289G= (p.Arg763=)
c.2319G= (p.Arg773=)
c.2310G= (p.Arg770=)
c.2280G= (p.Arg760=)
c.2223G= (p.Arg741=)
c.2169G= (p.Arg723=)
c.1962G= (p.Arg654=)
c.2376G= (p.Arg792=)
c.2370G= (p.Arg790=)
c.2367G= (p.Arg789=)
c.2427G= (p.Arg809=)
c.2418G= (p.Arg806=)
c.2337G= (p.Arg779=)
c.2286G= (p.Arg762=)
14g.33800575G>TCA486093429NPAS3c.2268G>T (p.Arg756=)
c.2277G>T (p.Arg759=)
c.2168G>T
c.793+2994G>T
c.2172G>T (p.Arg724=)
c.2229G>T (p.Arg743=)
c.2178G>T (p.Arg726=)
c.2283G>T (p.Arg761=)
c.2190G>T (p.Arg730=)
c.2289G>T (p.Arg763=)
c.2319G>T (p.Arg773=)
c.2310G>T (p.Arg770=)
c.2280G>T (p.Arg760=)
c.2223G>T (p.Arg741=)
c.2169G>T (p.Arg723=)
c.1962G>T (p.Arg654=)
c.2376G>T (p.Arg792=)
c.2370G>T (p.Arg790=)
c.2367G>T (p.Arg789=)
c.2427G>T (p.Arg809=)
c.2418G>T (p.Arg806=)
c.2337G>T (p.Arg779=)
c.2286G>T (p.Arg762=)
 gnomAD v4
14g.33800576G>ACA389414324NPAS3c.2269G>A (p.Asp757Asn)
c.2278G>A (p.Asp760Asn)
c.2169G>A
c.793+2995G>A
c.2173G>A (p.Asp725Asn)
c.2230G>A (p.Asp744Asn)
c.2179G>A (p.Asp727Asn)
c.2284G>A (p.Asp762Asn)
c.2191G>A (p.Asp731Asn)
c.2290G>A (p.Asp764Asn)
c.2320G>A (p.Asp774Asn)
c.2311G>A (p.Asp771Asn)
c.2281G>A (p.Asp761Asn)
c.2224G>A (p.Asp742Asn)
c.2170G>A (p.Asp724Asn)
c.1963G>A (p.Asp655Asn)
c.2377G>A (p.Asp793Asn)
c.2371G>A (p.Asp791Asn)
c.2368G>A (p.Asp790Asn)
c.2428G>A (p.Asp810Asn)
c.2419G>A (p.Asp807Asn)
c.2338G>A (p.Asp780Asn)
c.2287G>A (p.Asp763Asn)
 gnomAD v4
14g.33800576G>CCA389414322NPAS3c.2269G>C (p.Asp757His)
c.2278G>C (p.Asp760His)
c.2169G>C
c.793+2995G>C
c.2173G>C (p.Asp725His)
c.2230G>C (p.Asp744His)
c.2179G>C (p.Asp727His)
c.2284G>C (p.Asp762His)
c.2191G>C (p.Asp731His)
c.2290G>C (p.Asp764His)
c.2320G>C (p.Asp774His)
c.2311G>C (p.Asp771His)
c.2281G>C (p.Asp761His)
c.2224G>C (p.Asp742His)
c.2170G>C (p.Asp724His)
c.1963G>C (p.Asp655His)
c.2377G>C (p.Asp793His)
c.2371G>C (p.Asp791His)
c.2368G>C (p.Asp790His)
c.2428G>C (p.Asp810His)
c.2419G>C (p.Asp807His)
c.2338G>C (p.Asp780His)
c.2287G>C (p.Asp763His)
14g.33800576G>TCA389414323NPAS3c.2269G>T (p.Asp757Tyr)
c.2278G>T (p.Asp760Tyr)
c.2169G>T
c.793+2995G>T
c.2173G>T (p.Asp725Tyr)
c.2230G>T (p.Asp744Tyr)
c.2179G>T (p.Asp727Tyr)
c.2284G>T (p.Asp762Tyr)
c.2191G>T (p.Asp731Tyr)
c.2290G>T (p.Asp764Tyr)
c.2320G>T (p.Asp774Tyr)
c.2311G>T (p.Asp771Tyr)
c.2281G>T (p.Asp761Tyr)
c.2224G>T (p.Asp742Tyr)
c.2170G>T (p.Asp724Tyr)
c.1963G>T (p.Asp655Tyr)
c.2377G>T (p.Asp793Tyr)
c.2371G>T (p.Asp791Tyr)
c.2368G>T (p.Asp790Tyr)
c.2428G>T (p.Asp810Tyr)
c.2419G>T (p.Asp807Tyr)
c.2338G>T (p.Asp780Tyr)
c.2287G>T (p.Asp763Tyr)
 gnomAD v4
14g.33800577A>CCA389414325NPAS3c.2270A>C (p.Asp757Ala)
c.2279A>C (p.Asp760Ala)
c.2170A>C
c.793+2996A>C
c.2174A>C (p.Asp725Ala)
c.2231A>C (p.Asp744Ala)
c.2180A>C (p.Asp727Ala)
c.2285A>C (p.Asp762Ala)
c.2192A>C (p.Asp731Ala)
c.2291A>C (p.Asp764Ala)
c.2321A>C (p.Asp774Ala)
c.2312A>C (p.Asp771Ala)
c.2282A>C (p.Asp761Ala)
c.2225A>C (p.Asp742Ala)
c.2171A>C (p.Asp724Ala)
c.1964A>C (p.Asp655Ala)
c.2378A>C (p.Asp793Ala)
c.2372A>C (p.Asp791Ala)
c.2369A>C (p.Asp790Ala)
c.2429A>C (p.Asp810Ala)
c.2420A>C (p.Asp807Ala)
c.2339A>C (p.Asp780Ala)
c.2288A>C (p.Asp763Ala)
14g.33800577A>GCA389414326NPAS3c.2270A>G (p.Asp757Gly)
c.2279A>G (p.Asp760Gly)
c.2170A>G
c.793+2996A>G
c.2174A>G (p.Asp725Gly)
c.2231A>G (p.Asp744Gly)
c.2180A>G (p.Asp727Gly)
c.2285A>G (p.Asp762Gly)
c.2192A>G (p.Asp731Gly)
c.2291A>G (p.Asp764Gly)
c.2321A>G (p.Asp774Gly)
c.2312A>G (p.Asp771Gly)
c.2282A>G (p.Asp761Gly)
c.2225A>G (p.Asp742Gly)
c.2171A>G (p.Asp724Gly)
c.1964A>G (p.Asp655Gly)
c.2378A>G (p.Asp793Gly)
c.2372A>G (p.Asp791Gly)
c.2369A>G (p.Asp790Gly)
c.2429A>G (p.Asp810Gly)
c.2420A>G (p.Asp807Gly)
c.2339A>G (p.Asp780Gly)
c.2288A>G (p.Asp763Gly)
 gnomAD v4
14g.33800577A>TCA389414327NPAS3c.2270A>T (p.Asp757Val)
c.2279A>T (p.Asp760Val)
c.2170A>T
c.793+2996A>T
c.2174A>T (p.Asp725Val)
c.2231A>T (p.Asp744Val)
c.2180A>T (p.Asp727Val)
c.2285A>T (p.Asp762Val)
c.2192A>T (p.Asp731Val)
c.2291A>T (p.Asp764Val)
c.2321A>T (p.Asp774Val)
c.2312A>T (p.Asp771Val)
c.2282A>T (p.Asp761Val)
c.2225A>T (p.Asp742Val)
c.2171A>T (p.Asp724Val)
c.1964A>T (p.Asp655Val)
c.2378A>T (p.Asp793Val)
c.2372A>T (p.Asp791Val)
c.2369A>T (p.Asp790Val)
c.2429A>T (p.Asp810Val)
c.2420A>T (p.Asp807Val)
c.2339A>T (p.Asp780Val)
c.2288A>T (p.Asp763Val)
14g.33800578C>ACA389414328NPAS3c.2271C>A (p.Asp757Glu)
c.2280C>A (p.Asp760Glu)
c.2171C>A
c.793+2997C>A
c.2175C>A (p.Asp725Glu)
c.2232C>A (p.Asp744Glu)
c.2181C>A (p.Asp727Glu)
c.2286C>A (p.Asp762Glu)
c.2193C>A (p.Asp731Glu)
c.2292C>A (p.Asp764Glu)
c.2322C>A (p.Asp774Glu)
c.2313C>A (p.Asp771Glu)
c.2283C>A (p.Asp761Glu)
c.2226C>A (p.Asp742Glu)
c.2172C>A (p.Asp724Glu)
c.1965C>A (p.Asp655Glu)
c.2379C>A (p.Asp793Glu)
c.2373C>A (p.Asp791Glu)
c.2370C>A (p.Asp790Glu)
c.2430C>A (p.Asp810Glu)
c.2421C>A (p.Asp807Glu)
c.2340C>A (p.Asp780Glu)
c.2289C>A (p.Asp763Glu)
 gnomAD v4
14g.33800578C>GCA389414329NPAS3c.2271C>G (p.Asp757Glu)
c.2280C>G (p.Asp760Glu)
c.2171C>G
c.793+2997C>G
c.2175C>G (p.Asp725Glu)
c.2232C>G (p.Asp744Glu)
c.2181C>G (p.Asp727Glu)
c.2286C>G (p.Asp762Glu)
c.2193C>G (p.Asp731Glu)
c.2292C>G (p.Asp764Glu)
c.2322C>G (p.Asp774Glu)
c.2313C>G (p.Asp771Glu)
c.2283C>G (p.Asp761Glu)
c.2226C>G (p.Asp742Glu)
c.2172C>G (p.Asp724Glu)
c.1965C>G (p.Asp655Glu)
c.2379C>G (p.Asp793Glu)
c.2373C>G (p.Asp791Glu)
c.2370C>G (p.Asp790Glu)
c.2430C>G (p.Asp810Glu)
c.2421C>G (p.Asp807Glu)
c.2340C>G (p.Asp780Glu)
c.2289C>G (p.Asp763Glu)
 gnomAD v4
14g.33800578C>TCA486093432NPAS3c.2271C>T (p.Asp757=)
c.2280C>T (p.Asp760=)
c.2171C>T
c.793+2997C>T
c.2175C>T (p.Asp725=)
c.2232C>T (p.Asp744=)
c.2181C>T (p.Asp727=)
c.2286C>T (p.Asp762=)
c.2193C>T (p.Asp731=)
c.2292C>T (p.Asp764=)
c.2322C>T (p.Asp774=)
c.2313C>T (p.Asp771=)
c.2283C>T (p.Asp761=)
c.2226C>T (p.Asp742=)
c.2172C>T (p.Asp724=)
c.1965C>T (p.Asp655=)
c.2379C>T (p.Asp793=)
c.2373C>T (p.Asp791=)
c.2370C>T (p.Asp790=)
c.2430C>T (p.Asp810=)
c.2421C>T (p.Asp807=)
c.2340C>T (p.Asp780=)
c.2289C>T (p.Asp763=)
14g.33800579A=CA2128328004NPAS3c.2272A= (p.Lys758=)
c.2281A= (p.Lys761=)
c.2172A=
c.793+2998A=
c.2176A= (p.Lys726=)
c.2233A= (p.Lys745=)
c.2182A= (p.Lys728=)
c.2287A= (p.Lys763=)
c.2194A= (p.Lys732=)
c.2293A= (p.Lys765=)
c.2323A= (p.Lys775=)
c.2314A= (p.Lys772=)
c.2284A= (p.Lys762=)
c.2227A= (p.Lys743=)
c.2173A= (p.Lys725=)
c.1966A= (p.Lys656=)
c.2380A= (p.Lys794=)
c.2374A= (p.Lys792=)
c.2371A= (p.Lys791=)
c.2431A= (p.Lys811=)
c.2422A= (p.Lys808=)
c.2341A= (p.Lys781=)
c.2290A= (p.Lys764=)
14g.33800579A>CCA389414330NPAS3c.2272A>C (p.Lys758Gln)
c.2281A>C (p.Lys761Gln)
c.2172A>C
c.793+2998A>C
c.2176A>C (p.Lys726Gln)
c.2233A>C (p.Lys745Gln)
c.2182A>C (p.Lys728Gln)
c.2287A>C (p.Lys763Gln)
c.2194A>C (p.Lys732Gln)
c.2293A>C (p.Lys765Gln)
c.2323A>C (p.Lys775Gln)
c.2314A>C (p.Lys772Gln)
c.2284A>C (p.Lys762Gln)
c.2227A>C (p.Lys743Gln)
c.2173A>C (p.Lys725Gln)
c.1966A>C (p.Lys656Gln)
c.2380A>C (p.Lys794Gln)
c.2374A>C (p.Lys792Gln)
c.2371A>C (p.Lys791Gln)
c.2431A>C (p.Lys811Gln)
c.2422A>C (p.Lys808Gln)
c.2341A>C (p.Lys781Gln)
c.2290A>C (p.Lys764Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800579A>GCA389414331NPAS3c.2272A>G (p.Lys758Glu)
c.2281A>G (p.Lys761Glu)
c.2172A>G
c.793+2998A>G
c.2176A>G (p.Lys726Glu)
c.2233A>G (p.Lys745Glu)
c.2182A>G (p.Lys728Glu)
c.2287A>G (p.Lys763Glu)
c.2194A>G (p.Lys732Glu)
c.2293A>G (p.Lys765Glu)
c.2323A>G (p.Lys775Glu)
c.2314A>G (p.Lys772Glu)
c.2284A>G (p.Lys762Glu)
c.2227A>G (p.Lys743Glu)
c.2173A>G (p.Lys725Glu)
c.1966A>G (p.Lys656Glu)
c.2380A>G (p.Lys794Glu)
c.2374A>G (p.Lys792Glu)
c.2371A>G (p.Lys791Glu)
c.2431A>G (p.Lys811Glu)
c.2422A>G (p.Lys808Glu)
c.2341A>G (p.Lys781Glu)
c.2290A>G (p.Lys764Glu)
 dbSNP gnomAD v4
14g.33800579A>TCA389414332NPAS3c.2272A>T (p.Lys758Ter)
c.2281A>T (p.Lys761Ter)
c.2172A>T
c.793+2998A>T
c.2176A>T (p.Lys726Ter)
c.2233A>T (p.Lys745Ter)
c.2182A>T (p.Lys728Ter)
c.2287A>T (p.Lys763Ter)
c.2194A>T (p.Lys732Ter)
c.2293A>T (p.Lys765Ter)
c.2323A>T (p.Lys775Ter)
c.2314A>T (p.Lys772Ter)
c.2284A>T (p.Lys762Ter)
c.2227A>T (p.Lys743Ter)
c.2173A>T (p.Lys725Ter)
c.1966A>T (p.Lys656Ter)
c.2380A>T (p.Lys794Ter)
c.2374A>T (p.Lys792Ter)
c.2371A>T (p.Lys791Ter)
c.2431A>T (p.Lys811Ter)
c.2422A>T (p.Lys808Ter)
c.2341A>T (p.Lys781Ter)
c.2290A>T (p.Lys764Ter)
14g.33800580delCA2624512052NPAS3c.2273del (p.Lys758SerfsTer?)
c.2282del (p.Lys761SerfsTer?)
c.2173del
c.793+2999del
c.2177del (p.Lys726SerfsTer?)
c.2234del (p.Lys745SerfsTer?)
c.2183del (p.Lys728SerfsTer?)
c.2288del (p.Lys763SerfsTer?)
c.2195del (p.Lys732SerfsTer?)
c.2294del (p.Lys765SerfsTer?)
c.2324del (p.Lys775SerfsTer?)
c.2315del (p.Lys772SerfsTer?)
c.2285del (p.Lys762SerfsTer?)
c.2228del (p.Lys743SerfsTer?)
c.2174del (p.Lys725SerfsTer?)
c.1967del (p.Lys656SerfsTer?)
c.2381del (p.Lys794SerfsTer?)
c.2375del (p.Lys792SerfsTer?)
c.2372del (p.Lys791SerfsTer?)
c.2432del (p.Lys811SerfsTer?)
c.2423del (p.Lys808SerfsTer?)
c.2342del (p.Lys781SerfsTer?)
c.2291del (p.Lys764SerfsTer?)
 gnomAD v4
14g.33800580A>CCA389414333NPAS3c.2273A>C (p.Lys758Thr)
c.2282A>C (p.Lys761Thr)
c.2173A>C
c.793+2999A>C
c.2177A>C (p.Lys726Thr)
c.2234A>C (p.Lys745Thr)
c.2183A>C (p.Lys728Thr)
c.2288A>C (p.Lys763Thr)
c.2195A>C (p.Lys732Thr)
c.2294A>C (p.Lys765Thr)
c.2324A>C (p.Lys775Thr)
c.2315A>C (p.Lys772Thr)
c.2285A>C (p.Lys762Thr)
c.2228A>C (p.Lys743Thr)
c.2174A>C (p.Lys725Thr)
c.1967A>C (p.Lys656Thr)
c.2381A>C (p.Lys794Thr)
c.2375A>C (p.Lys792Thr)
c.2372A>C (p.Lys791Thr)
c.2432A>C (p.Lys811Thr)
c.2423A>C (p.Lys808Thr)
c.2342A>C (p.Lys781Thr)
c.2291A>C (p.Lys764Thr)
14g.33800580A>GCA389414334NPAS3c.2273A>G (p.Lys758Arg)
c.2282A>G (p.Lys761Arg)
c.2173A>G
c.793+2999A>G
c.2177A>G (p.Lys726Arg)
c.2234A>G (p.Lys745Arg)
c.2183A>G (p.Lys728Arg)
c.2288A>G (p.Lys763Arg)
c.2195A>G (p.Lys732Arg)
c.2294A>G (p.Lys765Arg)
c.2324A>G (p.Lys775Arg)
c.2315A>G (p.Lys772Arg)
c.2285A>G (p.Lys762Arg)
c.2228A>G (p.Lys743Arg)
c.2174A>G (p.Lys725Arg)
c.1967A>G (p.Lys656Arg)
c.2381A>G (p.Lys794Arg)
c.2375A>G (p.Lys792Arg)
c.2372A>G (p.Lys791Arg)
c.2432A>G (p.Lys811Arg)
c.2423A>G (p.Lys808Arg)
c.2342A>G (p.Lys781Arg)
c.2291A>G (p.Lys764Arg)
 gnomAD v4
14g.33800580A>TCA389414335NPAS3c.2273A>T (p.Lys758Met)
c.2282A>T (p.Lys761Met)
c.2173A>T
c.793+2999A>T
c.2177A>T (p.Lys726Met)
c.2234A>T (p.Lys745Met)
c.2183A>T (p.Lys728Met)
c.2288A>T (p.Lys763Met)
c.2195A>T (p.Lys732Met)
c.2294A>T (p.Lys765Met)
c.2324A>T (p.Lys775Met)
c.2315A>T (p.Lys772Met)
c.2285A>T (p.Lys762Met)
c.2228A>T (p.Lys743Met)
c.2174A>T (p.Lys725Met)
c.1967A>T (p.Lys656Met)
c.2381A>T (p.Lys794Met)
c.2375A>T (p.Lys792Met)
c.2372A>T (p.Lys791Met)
c.2432A>T (p.Lys811Met)
c.2423A>T (p.Lys808Met)
c.2342A>T (p.Lys781Met)
c.2291A>T (p.Lys764Met)
 gnomAD v4
14g.33800581G>ACA486093437NPAS3c.2274G>A (p.Lys758=)
c.2283G>A (p.Lys761=)
c.2174G>A
c.793+3000G>A
c.2178G>A (p.Lys726=)
c.2235G>A (p.Lys745=)
c.2184G>A (p.Lys728=)
c.2289G>A (p.Lys763=)
c.2196G>A (p.Lys732=)
c.2295G>A (p.Lys765=)
c.2325G>A (p.Lys775=)
c.2316G>A (p.Lys772=)
c.2286G>A (p.Lys762=)
c.2229G>A (p.Lys743=)
c.2175G>A (p.Lys725=)
c.1968G>A (p.Lys656=)
c.2382G>A (p.Lys794=)
c.2376G>A (p.Lys792=)
c.2373G>A (p.Lys791=)
c.2433G>A (p.Lys811=)
c.2424G>A (p.Lys808=)
c.2343G>A (p.Lys781=)
c.2292G>A (p.Lys764=)
 gnomAD v4
14g.33800581G>CCA389414336NPAS3c.2274G>C (p.Lys758Asn)
c.2283G>C (p.Lys761Asn)
c.2174G>C
c.793+3000G>C
c.2178G>C (p.Lys726Asn)
c.2235G>C (p.Lys745Asn)
c.2184G>C (p.Lys728Asn)
c.2289G>C (p.Lys763Asn)
c.2196G>C (p.Lys732Asn)
c.2295G>C (p.Lys765Asn)
c.2325G>C (p.Lys775Asn)
c.2316G>C (p.Lys772Asn)
c.2286G>C (p.Lys762Asn)
c.2229G>C (p.Lys743Asn)
c.2175G>C (p.Lys725Asn)
c.1968G>C (p.Lys656Asn)
c.2382G>C (p.Lys794Asn)
c.2376G>C (p.Lys792Asn)
c.2373G>C (p.Lys791Asn)
c.2433G>C (p.Lys811Asn)
c.2424G>C (p.Lys808Asn)
c.2343G>C (p.Lys781Asn)
c.2292G>C (p.Lys764Asn)
 dbSNP
14g.33800581G=CA2128328009NPAS3c.2274G= (p.Lys758=)
c.2283G= (p.Lys761=)
c.2174G=
c.793+3000G=
c.2178G= (p.Lys726=)
c.2235G= (p.Lys745=)
c.2184G= (p.Lys728=)
c.2289G= (p.Lys763=)
c.2196G= (p.Lys732=)
c.2295G= (p.Lys765=)
c.2325G= (p.Lys775=)
c.2316G= (p.Lys772=)
c.2286G= (p.Lys762=)
c.2229G= (p.Lys743=)
c.2175G= (p.Lys725=)
c.1968G= (p.Lys656=)
c.2382G= (p.Lys794=)
c.2376G= (p.Lys792=)
c.2373G= (p.Lys791=)
c.2433G= (p.Lys811=)
c.2424G= (p.Lys808=)
c.2343G= (p.Lys781=)
c.2292G= (p.Lys764=)
14g.33800581G>TCA389414337NPAS3c.2274G>T (p.Lys758Asn)
c.2283G>T (p.Lys761Asn)
c.2174G>T
c.793+3000G>T
c.2178G>T (p.Lys726Asn)
c.2235G>T (p.Lys745Asn)
c.2184G>T (p.Lys728Asn)
c.2289G>T (p.Lys763Asn)
c.2196G>T (p.Lys732Asn)
c.2295G>T (p.Lys765Asn)
c.2325G>T (p.Lys775Asn)
c.2316G>T (p.Lys772Asn)
c.2286G>T (p.Lys762Asn)
c.2229G>T (p.Lys743Asn)
c.2175G>T (p.Lys725Asn)
c.1968G>T (p.Lys656Asn)
c.2382G>T (p.Lys794Asn)
c.2376G>T (p.Lys792Asn)
c.2373G>T (p.Lys791Asn)
c.2433G>T (p.Lys811Asn)
c.2424G>T (p.Lys808Asn)
c.2343G>T (p.Lys781Asn)
c.2292G>T (p.Lys764Asn)
 gnomAD v4
14g.33800582C>ACA389414338NPAS3c.2275C>A (p.His759Asn)
c.2284C>A (p.His762Asn)
c.2175C>A
c.793+3001C>A
c.2179C>A (p.His727Asn)
c.2236C>A (p.His746Asn)
c.2185C>A (p.His729Asn)
c.2290C>A (p.His764Asn)
c.2197C>A (p.His733Asn)
c.2296C>A (p.His766Asn)
c.2326C>A (p.His776Asn)
c.2317C>A (p.His773Asn)
c.2287C>A (p.His763Asn)
c.2230C>A (p.His744Asn)
c.2176C>A (p.His726Asn)
c.1969C>A (p.His657Asn)
c.2383C>A (p.His795Asn)
c.2377C>A (p.His793Asn)
c.2374C>A (p.His792Asn)
c.2434C>A (p.His812Asn)
c.2425C>A (p.His809Asn)
c.2344C>A (p.His782Asn)
c.2293C>A (p.His765Asn)
 gnomAD v4
14g.33800582C>GCA389414340NPAS3c.2275C>G (p.His759Asp)
c.2284C>G (p.His762Asp)
c.2175C>G
c.793+3001C>G
c.2179C>G (p.His727Asp)
c.2236C>G (p.His746Asp)
c.2185C>G (p.His729Asp)
c.2290C>G (p.His764Asp)
c.2197C>G (p.His733Asp)
c.2296C>G (p.His766Asp)
c.2326C>G (p.His776Asp)
c.2317C>G (p.His773Asp)
c.2287C>G (p.His763Asp)
c.2230C>G (p.His744Asp)
c.2176C>G (p.His726Asp)
c.1969C>G (p.His657Asp)
c.2383C>G (p.His795Asp)
c.2377C>G (p.His793Asp)
c.2374C>G (p.His792Asp)
c.2434C>G (p.His812Asp)
c.2425C>G (p.His809Asp)
c.2344C>G (p.His782Asp)
c.2293C>G (p.His765Asp)
14g.33800582C>TCA389414339NPAS3c.2275C>T (p.His759Tyr)
c.2284C>T (p.His762Tyr)
c.2175C>T
c.793+3001C>T
c.2179C>T (p.His727Tyr)
c.2236C>T (p.His746Tyr)
c.2185C>T (p.His729Tyr)
c.2290C>T (p.His764Tyr)
c.2197C>T (p.His733Tyr)
c.2296C>T (p.His766Tyr)
c.2326C>T (p.His776Tyr)
c.2317C>T (p.His773Tyr)
c.2287C>T (p.His763Tyr)
c.2230C>T (p.His744Tyr)
c.2176C>T (p.His726Tyr)
c.1969C>T (p.His657Tyr)
c.2383C>T (p.His795Tyr)
c.2377C>T (p.His793Tyr)
c.2374C>T (p.His792Tyr)
c.2434C>T (p.His812Tyr)
c.2425C>T (p.His809Tyr)
c.2344C>T (p.His782Tyr)
c.2293C>T (p.His765Tyr)
 gnomAD v4

Number of alleles fetched