Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.33800489A>C | CA389414149 | NPAS3 | c.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) | |
14 | g.33800489A>G | CA389414150 | NPAS3 | c.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 |
14 | g.33800489A>T | CA389414151 | NPAS3 | c.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) | |
14 | g.33800490A>C | CA389414152 | NPAS3 | c.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) | |
14 | g.33800490A>G | CA389414153 | NPAS3 | c.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 |
14 | g.33800490A>T | CA389414154 | NPAS3 | c.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) | |
14 | g.33800491G>A | CA486093244 | NPAS3 | c.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 |
14 | g.33800491G>C | CA389414155 | NPAS3 | c.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) | |
14 | g.33800491G>T | CA389414156 | NPAS3 | c.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 |
14 | g.33800492A= | CA2128327617 | NPAS3 | c.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=) | |
14 | g.33800492A>C | CA389414157 | NPAS3 | c.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 |
14 | g.33800492A>G | CA389414158 | NPAS3 | c.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 |
14 | g.33800492A>T | CA389414159 | NPAS3 | c.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 |
14 | g.33800493C>A | CA389414160 | NPAS3 | c.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 |
14 | g.33800493C>G | CA389414161 | NPAS3 | c.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) | |
14 | g.33800493C>T | CA389414162 | NPAS3 | c.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) | |
14 | g.33800494T>A | CA486093251 | NPAS3 | c.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=) | |
14 | g.33800494T>C | CA486093248 | NPAS3 | c.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 |
14 | g.33800494T>G | CA486093249 | NPAS3 | c.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=) | |
14 | g.33800495C>A | CA389414165 | NPAS3 | c.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 |
14 | g.33800495C>G | CA389414163 | NPAS3 | c.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) | |
14 | g.33800495C>T | CA389414164 | NPAS3 | c.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 |
14 | g.33800496A= | CA2128327619 | NPAS3 | c.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=) | |
14 | g.33800496A>C | CA389414166 | NPAS3 | c.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 |
14 | g.33800496A>G | CA389414167 | NPAS3 | c.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 |
14 | g.33800496A>T | CA389414168 | NPAS3 | c.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) | |
14 | g.33800497G>A | CA486093257 | NPAS3 | c.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 |
14 | g.33800497G>C | CA389414169 | NPAS3 | c.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) | |
14 | g.33800497G= | CA2128327623 | NPAS3 | c.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=) | |
14 | g.33800497G>T | CA389414170 | NPAS3 | c.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 |
14 | g.33800498T>A | CA389414171 | NPAS3 | c.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) | |
14 | g.33800498T>C | CA389414173 | NPAS3 | c.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 |
14 | g.33800498T>G | CA389414172 | NPAS3 | c.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) | |
14 | g.33800499T>A | CA389414174 | NPAS3 | c.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 |
14 | g.33800499T>C | CA389414175 | NPAS3 | c.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 |
14 | g.33800499T>G | CA389414176 | NPAS3 | c.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) | |
14 | g.33800499T= | CA2128327626 | NPAS3 | c.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=) | |
14 | g.33800500C>A | CA389414177 | NPAS3 | c.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 |
14 | g.33800500C= | CA2128327627 | NPAS3 | c.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=) | |
14 | g.33800500C>G | CA389414178 | NPAS3 | c.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) | |
14 | g.33800500C>T | CA486093264 | NPAS3 | c.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 |
14 | g.33800501G>A | CA258719208 | NPAS3 | c.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 |
14 | g.33800501G>C | CA389414179 | NPAS3 | c.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) | |
14 | g.33800501G= | CA2128327629 | NPAS3 | c.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=) | |
14 | g.33800501G>T | CA389414180 | NPAS3 | c.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) | |
14 | g.33800502G>A | CA389414181 | NPAS3 | c.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 |
14 | g.33800502G>C | CA258719210 | NPAS3 | c.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 |
14 | g.33800502G= | CA2128327632 | NPAS3 | c.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=) | |
14 | g.33800502G>T | CA389414182 | NPAS3 | c.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 |
14 | g.33800503C>A | CA486093268 | NPAS3 | c.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 |
14 | g.33800503C>G | CA486093269 | NPAS3 | c.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=) | |
14 | g.33800503C>T | CA486093270 | NPAS3 | c.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 |
14 | g.33800504G>A | CA389414185 | NPAS3 | c.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 |
14 | g.33800504G>C | CA389414184 | NPAS3 | c.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 |
14 | g.33800504G= | CA2128327637 | NPAS3 | c.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=) | |
14 | g.33800504G>T | CA389414183 | NPAS3 | c.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 |
14 | g.33800505C>A | CA389414186 | NPAS3 | c.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 |
14 | g.33800505C= | CA2128327639 | NPAS3 | c.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=) | |
14 | g.33800505C>G | CA389414187 | NPAS3 | c.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) | |
14 | g.33800505C>T | CA258719218 | NPAS3 | c.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 |
14 | g.33800506C>A | CA486093272 | NPAS3 | c.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 |
14 | g.33800506C= | CA2128327641 | NPAS3 | c.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=) | |
14 | g.33800506C>G | CA486093275 | NPAS3 | c.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 |
14 | g.33800506C>T | CA486093276 | NPAS3 | c.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 |
14 | g.33800507T>A | CA389414188 | NPAS3 | c.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 |
14 | g.33800507T>C | CA389414189 | NPAS3 | c.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 |
14 | g.33800507T>G | CA389414190 | NPAS3 | c.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) | |
14 | g.33800508C>A | CA389414193 | NPAS3 | c.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 |
14 | g.33800508C= | CA2128327643 | NPAS3 | c.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=) | |
14 | g.33800508C>G | CA389414192 | NPAS3 | c.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 |
14 | g.33800508C>T | CA389414191 | NPAS3 | c.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 |
14 | g.33800513_33800521del | CA2575504026 | NPAS3 | c.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 |
14 | g.33800509G>A | CA486093281 | NPAS3 | c.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 |
14 | g.33800509G>C | CA486093283 | NPAS3 | c.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 |
14 | g.33800509G= | CA2128327646 | NPAS3 | c.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=) | |
14 | g.33800509G>T | CA486093284 | NPAS3 | c.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 |
14 | g.33800510del | CA2624512040 | NPAS3 | c.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 |
14 | g.33800510G>A | CA389414194 | NPAS3 | c.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 |
14 | g.33800510G>C | CA389414195 | NPAS3 | c.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 |
14 | g.33800510G>T | CA389414196 | NPAS3 | c.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 |
14 | g.33800511C>A | CA389414197 | NPAS3 | c.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 |
14 | g.33800511C>G | CA389414198 | NPAS3 | c.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 |
14 | g.33800511C>T | CA389414199 | NPAS3 | c.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 |
14 | g.33800512C>A | CA486093291 | NPAS3 | c.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 |
14 | g.33800512C>G | CA486093288 | NPAS3 | c.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=) | |
14 | g.33800512C>T | CA486093286 | NPAS3 | c.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 |
14 | g.33800513A= | CA2128327649 | NPAS3 | c.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=) | |
14 | g.33800513A>C | CA389414202 | NPAS3 | c.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) | |
14 | g.33800513A>G | CA389414200 | NPAS3 | c.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 |
14 | g.33800513A>T | CA389414201 | NPAS3 | c.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 |
14 | g.33800514C>A | CA389414203 | NPAS3 | c.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 |
14 | g.33800514C= | CA2128327655 | NPAS3 | c.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=) | |
14 | g.33800514C>G | CA389414204 | NPAS3 | c.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) | |
14 | g.33800514C>T | CA389414205 | NPAS3 | c.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 |
14 | g.33800517_33800531dup | CA258719220 | NPAS3 | c.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 |
14 | g.33800515C>A | CA486093296 | NPAS3 | c.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 |
14 | g.33800515C= | CA2128327663 | NPAS3 | c.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=) | |
14 | g.33800515C>G | CA486093297 | NPAS3 | c.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 |
14 | g.33800515C>T | CA7150963 | NPAS3 | c.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 |
14 | g.33800516G>A | CA389414206 | NPAS3 | c.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 |
14 | g.33800516G>C | CA389414207 | NPAS3 | c.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 |
14 | g.33800516G= | CA2128327671 | NPAS3 | c.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=) | |
14 | g.33800516G>T | CA389414208 | NPAS3 | c.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 |
14 | g.33800517C>A | CA389414209 | NPAS3 | c.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 |
14 | g.33800517C= | CA2128327675 | NPAS3 | c.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=) | |
14 | g.33800517C>G | CA389414210 | NPAS3 | c.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) | |
14 | g.33800517C>T | CA389414211 | NPAS3 | c.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 |
14 | g.33800518G>A | CA486093299 | NPAS3 | c.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 |
14 | g.33800518G>C | CA486093301 | NPAS3 | c.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 |
14 | g.33800518G= | CA2128327677 | NPAS3 | c.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=) | |
14 | g.33800518G>T | CA486093300 | NPAS3 | c.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 |
14 | g.33800519G>A | CA389414212 | NPAS3 | c.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 |
14 | g.33800519G>C | CA389414213 | NPAS3 | c.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 |
14 | g.33800519G>T | CA389414214 | NPAS3 | c.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 |
14 | g.33800520C>A | CA389414217 | NPAS3 | c.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 |
14 | g.33800520C= | CA2128327680 | NPAS3 | c.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=) | |
14 | g.33800520C>G | CA389414215 | NPAS3 | c.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) | |
14 | g.33800520C>T | CA389414216 | NPAS3 | c.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 |
14 | g.33800522del | CA2624512041 | NPAS3 | c.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 |
14 | g.33800521C>A | CA486093303 | NPAS3 | c.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 |
14 | g.33800521C>G | CA486093304 | NPAS3 | c.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=) | |
14 | g.33800521C>T | CA486093306 | NPAS3 | c.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 |
14 | g.33800522C>A | CA389414218 | NPAS3 | c.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 |
14 | g.33800522C>G | CA389414219 | NPAS3 | c.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) | |
14 | g.33800522C>T | CA486093311 | NPAS3 | c.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 |
14 | g.33800523T>A | CA389414220 | NPAS3 | c.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 |
14 | g.33800523T>C | CA389414221 | NPAS3 | c.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 |
14 | g.33800523T>G | CA389414222 | NPAS3 | c.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) | |
14 | g.33800524G>A | CA486093313 | NPAS3 | c.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 |
14 | g.33800524G>C | CA486093314 | NPAS3 | c.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=) | |
14 | g.33800524G= | CA2128327683 | NPAS3 | c.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=) | |
14 | g.33800524G>T | CA486093316 | NPAS3 | c.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 |
14 | g.33800525del | CA2624512042 | NPAS3 | c.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 |
14 | g.33800525G>A | CA389414225 | NPAS3 | c.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 |
14 | g.33800525G>C | CA389414224 | NPAS3 | c.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 |
14 | g.33800525G>T | CA389414223 | NPAS3 | c.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 |
14 | g.33800526C>A | CA258719222 | NPAS3 | c.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 |
14 | g.33800526C= | CA2128327687 | NPAS3 | c.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=) | |
14 | g.33800526C>G | CA389414226 | NPAS3 | c.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 |
14 | g.33800526C>T | CA389414227 | NPAS3 | c.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 |
14 | g.33800530dup | CA2624512043 | NPAS3 | c.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 |
14 | g.33800530del | CA613803865 | NPAS3 | c.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 |
14 | g.33800527C>A | CA486093323 | NPAS3 | c.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 |
14 | g.33800527C= | CA2128327691 | NPAS3 | c.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=) | |
14 | g.33800527C>G | CA486093324 | NPAS3 | c.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=) | |
14 | g.33800527C>T | CA486093321 | NPAS3 | c.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 |
14 | g.33800528C>A | CA389414228 | NPAS3 | c.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 |
14 | g.33800528C= | CA2128327693 | NPAS3 | c.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=) | |
14 | g.33800528C>G | CA389414229 | NPAS3 | c.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) | |
14 | g.33800528C>T | CA389414230 | NPAS3 | c.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 |
14 | g.33800529C>A | CA389414233 | NPAS3 | c.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 |
14 | g.33800529C= | CA2128327695 | NPAS3 | c.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=) | |
14 | g.33800529C>G | CA389414231 | NPAS3 | c.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 |
14 | g.33800529C>T | CA389414232 | NPAS3 | c.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 |
14 | g.33800530C>A | CA486093327 | NPAS3 | c.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 |
14 | g.33800530C= | CA2128327697 | NPAS3 | c.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=) | |
14 | g.33800530C>G | CA486093329 | NPAS3 | c.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=) | |
14 | g.33800530C>T | CA486093331 | NPAS3 | c.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 |
14 | g.33800532_33800534dup | CA2624512044 | NPAS3 | c.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 |
14 | g.33800531G>A | CA258719224 | NPAS3 | c.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 |
14 | g.33800531G>C | CA389414234 | NPAS3 | c.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 |
14 | g.33800531G= | CA2128327701 | NPAS3 | c.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=) | |
14 | g.33800531G>T | CA389414235 | NPAS3 | c.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 |
14 | g.33800532del | CA2575504027 | NPAS3 | c.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?) | |
14 | g.33800532T>A | CA389414236 | NPAS3 | c.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 |
14 | g.33800532T>C | CA389414237 | NPAS3 | c.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 |
14 | g.33800532T>G | CA389414238 | NPAS3 | c.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) | |
14 | g.33800533C>A | CA486093334 | NPAS3 | c.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 |
14 | g.33800533C>G | CA486093336 | NPAS3 | c.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=) | |
14 | g.33800533C>T | CA486093338 | NPAS3 | c.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 |
14 | g.33800534G>A | CA389414239 | NPAS3 | c.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 |
14 | g.33800534G>C | CA389414240 | NPAS3 | c.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 |
14 | g.33800534G= | CA2128327704 | NPAS3 | c.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=) | |
14 | g.33800534G>T | CA389414241 | NPAS3 | c.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 |
14 | g.33800535C>A | CA389414242 | NPAS3 | c.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 |
14 | g.33800535C= | CA2128327706 | NPAS3 | c.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=) | |
14 | g.33800535C>G | CA389414243 | NPAS3 | c.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) | |
14 | g.33800535C>T | CA389414244 | NPAS3 | c.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 |
14 | g.33800536C>A | CA486093342 | NPAS3 | c.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 |
14 | g.33800536C>G | CA486093344 | NPAS3 | c.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=) | |
14 | g.33800536C>T | CA486093346 | NPAS3 | c.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 |
14 | g.33800537T>A | CA389414245 | NPAS3 | c.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 |
14 | g.33800537T>C | CA389414247 | NPAS3 | c.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 |
14 | g.33800537T>G | CA389414246 | NPAS3 | c.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) | |
14 | g.33800538C>A | CA389414248 | NPAS3 | c.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 |
14 | g.33800538C>G | CA389414250 | NPAS3 | c.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) | |
14 | g.33800538C>T | CA389414249 | NPAS3 | c.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 |
14 | g.33800539C>A | CA486093348 | NPAS3 | c.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 |
14 | g.33800539C>G | CA486093353 | NPAS3 | c.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 |
14 | g.33800539C>T | CA486093352 | NPAS3 | c.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 |
14 | g.33800540G>A | CA389414251 | NPAS3 | c.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 |
14 | g.33800540G>C | CA389414252 | NPAS3 | c.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 |
14 | g.33800540G= | CA2128327708 | NPAS3 | c.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=) | |
14 | g.33800540G>T | CA389414253 | NPAS3 | c.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 |
14 | g.33800541A>C | CA389414254 | NPAS3 | c.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 |
14 | g.33800541A>G | CA389414255 | NPAS3 | c.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 |
14 | g.33800541A>T | CA389414256 | NPAS3 | c.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) | |
14 | g.33800542C>A | CA389414257 | NPAS3 | c.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 |
14 | g.33800542C>G | CA389414258 | NPAS3 | c.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) | |
14 | g.33800542C>T | CA486093358 | NPAS3 | c.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 |
14 | g.33800543C>A | CA389414259 | NPAS3 | c.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 |
14 | g.33800543C>G | CA389414260 | NPAS3 | c.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 |
14 | g.33800543C>T | CA389414261 | NPAS3 | c.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 |
14 | g.33800544C>A | CA389414264 | NPAS3 | c.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 |
14 | g.33800544C= | CA2128327713 | NPAS3 | c.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=) | |
14 | g.33800544C>G | CA389414263 | NPAS3 | c.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 |
14 | g.33800544C>T | CA389414262 | NPAS3 | c.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 |
14 | g.33800545_33800546del | CA2624512045 | NPAS3 | c.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 |
14 | g.33800545G>A | CA486093360 | NPAS3 | c.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 |
14 | g.33800545G>C | CA486093361 | NPAS3 | c.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 |
14 | g.33800545G= | CA2128327717 | NPAS3 | c.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=) | |
14 | g.33800545G>T | CA7150964 | NPAS3 | c.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 |
14 | g.33800546_33800548del | CA2624512046 | NPAS3 | c.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 |
14 | g.33800546C>A | CA389414265 | NPAS3 | c.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 |
14 | g.33800546C>G | CA389414266 | NPAS3 | c.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 |
14 | g.33800546C>T | CA486093362 | NPAS3 | c.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 |
14 | g.33800547T>A | CA389414267 | NPAS3 | c.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 |
14 | g.33800547T>C | CA389414268 | NPAS3 | c.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 |
14 | g.33800547T>G | CA389414269 | NPAS3 | c.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 |
14 | g.33800548G>A | CA486093370 | NPAS3 | c.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 |
14 | g.33800548G>C | CA486093371 | NPAS3 | c.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 |
14 | g.33800548G>T | CA486093368 | NPAS3 | c.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 |
14 | g.33800549T>A | CA389414270 | NPAS3 | c.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) | |
14 | g.33800549T>C | CA389414271 | NPAS3 | c.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 |
14 | g.33800549T>G | CA389414272 | NPAS3 | c.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) | |
14 | g.33800550C>A | CA389414273 | NPAS3 | c.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 |
14 | g.33800550C>G | CA389414274 | NPAS3 | c.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 |
14 | g.33800550C>T | CA389414275 | NPAS3 | c.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) | |
14 | g.33800551A>C | CA486093375 | NPAS3 | c.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 |
14 | g.33800551A>G | CA486093376 | NPAS3 | c.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 |
14 | g.33800551A>T | CA486093377 | NPAS3 | c.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=) | |
14 | g.33800551_33800552delinsAC | CA2128327721 | NPAS3 | c.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=) | |
14 | g.33800552C>A | CA389414278 | NPAS3 | c.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 |
14 | g.33800552C= | CA2128327724 | NPAS3 | c.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=) | |
14 | g.33800552C>G | CA389414277 | NPAS3 | c.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 |
14 | g.33800552C>T | CA389414276 | NPAS3 | c.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 |
14 | g.33800556dup | CA2624512047 | NPAS3 | c.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 |
14 | g.33800556del | CA613803866 | NPAS3 | c.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 |
14 | g.33800555_33800556del | CA2801126440 | NPAS3 | c.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?) | |
14 | g.33800553C>A | CA389414279 | NPAS3 | c.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 |
14 | g.33800553C>G | CA389414280 | NPAS3 | c.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) | |
14 | g.33800553C>T | CA389414281 | NPAS3 | c.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 |
14 | g.33800554C>A | CA486093384 | NPAS3 | c.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 |
14 | g.33800554C= | CA2128327726 | NPAS3 | c.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=) | |
14 | g.33800554C>G | CA486093385 | NPAS3 | c.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 |
14 | g.33800554C>T | CA486093386 | NPAS3 | c.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 |
14 | g.33800555C>A | CA389414282 | NPAS3 | c.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 |
14 | g.33800555C>G | CA389414283 | NPAS3 | c.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 |
14 | g.33800555C>T | CA389414284 | NPAS3 | c.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 |
14 | g.33800556C>A | CA389414285 | NPAS3 | c.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 |
14 | g.33800556C= | CA2128327731 | NPAS3 | c.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=) | |
14 | g.33800556C>G | CA389414286 | NPAS3 | c.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 |
14 | g.33800556C>T | CA389414287 | NPAS3 | c.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 |
14 | g.33800557del | CA2624512048 | NPAS3 | c.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 |
14 | g.33800557G>A | CA486093391 | NPAS3 | c.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 |
14 | g.33800557G>C | CA486093392 | NPAS3 | c.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 |
14 | g.33800557G= | CA2128327734 | NPAS3 | c.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=) | |
14 | g.33800557G>T | CA486093393 | NPAS3 | c.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 |
14 | g.33800558C>A | CA389414288 | NPAS3 | c.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 |
14 | g.33800558C>G | CA389414289 | NPAS3 | c.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) | |
14 | g.33800558C>T | CA389414290 | NPAS3 | c.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 |
14 | g.33800559T>A | CA389414292 | NPAS3 | c.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) | |
14 | g.33800559T>C | CA389414293 | NPAS3 | c.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 |
14 | g.33800559T>G | CA389414291 | NPAS3 | c.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 |
14 | g.33800560C>A | CA486093395 | NPAS3 | c.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 |
14 | g.33800560C= | CA2128327966 | NPAS3 | c.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=) | |
14 | g.33800560C>G | CA486093397 | NPAS3 | c.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 |
14 | g.33800560C>T | CA486093399 | NPAS3 | c.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 |
14 | g.33800561T>A | CA389414294 | NPAS3 | c.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 |
14 | g.33800561T>C | CA389414295 | NPAS3 | c.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 |
14 | g.33800561T>G | CA389414296 | NPAS3 | c.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 |
14 | g.33800562del | CA2624512049 | NPAS3 | c.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 |
14 | g.33800562C>A | CA389414297 | NPAS3 | c.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 |
14 | g.33800562C>G | CA389414298 | NPAS3 | c.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 |
14 | g.33800562C>T | CA389414299 | NPAS3 | c.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 |
14 | g.33800563G>A | CA7150965 | NPAS3 | c.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 |
14 | g.33800563G>C | CA486093401 | NPAS3 | c.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 |
14 | g.33800563G= | CA2128327972 | NPAS3 | c.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=) | |
14 | g.33800563G>T | CA486093402 | NPAS3 | c.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 |
14 | g.33800564G>A | CA389414300 | NPAS3 | c.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 |
14 | g.33800564G>C | CA389414301 | NPAS3 | c.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) | |
14 | g.33800564G>T | CA389414302 | NPAS3 | c.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 |
14 | g.33800567_33800574del | CA2624512050 | NPAS3 | c.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 |
14 | g.33800565C>A | CA389414303 | NPAS3 | c.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 |
14 | g.33800565C= | CA2128327978 | NPAS3 | c.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=) | |
14 | g.33800565C>G | CA389414304 | NPAS3 | c.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) | |
14 | g.33800565C>T | CA389414305 | NPAS3 | c.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 |
14 | g.33800566G>A | CA486093406 | NPAS3 | c.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 |
14 | g.33800566G>C | CA486093407 | NPAS3 | c.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 |
14 | g.33800566G= | CA2128327981 | NPAS3 | c.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=) | |
14 | g.33800566G>T | CA486093410 | NPAS3 | c.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 |
14 | g.33800567T>A | CA389414306 | NPAS3 | c.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) | |
14 | g.33800567T>C | CA389414308 | NPAS3 | c.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 |
14 | g.33800567T>G | CA389414307 | NPAS3 | c.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) | |
14 | g.33800567_33800568delinsTC | CA2128327984 | NPAS3 | c.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=) | |
14 | g.33800568C>A | CA389414309 | NPAS3 | c.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 |
14 | g.33800568C>G | CA389414310 | NPAS3 | c.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 |
14 | g.33800568C>T | CA389414311 | NPAS3 | c.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 |
14 | g.33800571del | CA613803867 | NPAS3 | c.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 |
14 | g.33800569C>A | CA486093413 | NPAS3 | c.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 |
14 | g.33800569C= | CA2128327989 | NPAS3 | c.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=) | |
14 | g.33800569C>G | CA7150966 | NPAS3 | c.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 |
14 | g.33800569C>T | CA486093415 | NPAS3 | c.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 |
14 | g.33800570C>A | CA389414312 | NPAS3 | c.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 |
14 | g.33800570C>G | CA389414313 | NPAS3 | c.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) | |
14 | g.33800570C>T | CA389414314 | NPAS3 | c.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 |
14 | g.33800571C>A | CA389414317 | NPAS3 | c.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 |
14 | g.33800571C= | CA2128327992 | NPAS3 | c.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=) | |
14 | g.33800571C>G | CA389414315 | NPAS3 | c.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) | |
14 | g.33800571C>T | CA389414316 | NPAS3 | c.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 |
14 | g.33800572G>A | CA258719237 | NPAS3 | c.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 |
14 | g.33800572G>C | CA486093417 | NPAS3 | c.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=) | |
14 | g.33800572G= | CA2128327995 | NPAS3 | c.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=) | |
14 | g.33800572G>T | CA486093421 | NPAS3 | c.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 |
14 | g.33800573C>A | CA486093424 | NPAS3 | c.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 |
14 | g.33800573C>G | CA389414318 | NPAS3 | c.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 |
14 | g.33800573C>T | CA389414319 | NPAS3 | c.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 |
14 | g.33800574_33800585del | CA2624512051 | NPAS3 | c.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 |
14 | g.33800574G>A | CA258719238 | NPAS3 | c.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 |
14 | g.33800574G>C | CA389414320 | NPAS3 | c.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) | |
14 | g.33800574G= | CA2128327998 | NPAS3 | c.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=) | |
14 | g.33800574G>T | CA389414321 | NPAS3 | c.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 |
14 | g.33800575G>A | CA486093425 | NPAS3 | c.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 |
14 | g.33800575G>C | CA486093427 | NPAS3 | c.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=) | |
14 | g.33800575G= | CA2128328000 | NPAS3 | c.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=) | |
14 | g.33800575G>T | CA486093429 | NPAS3 | c.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 |
14 | g.33800576G>A | CA389414324 | NPAS3 | c.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 |
14 | g.33800576G>C | CA389414322 | NPAS3 | c.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) | |
14 | g.33800576G>T | CA389414323 | NPAS3 | c.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 |
14 | g.33800577A>C | CA389414325 | NPAS3 | c.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) | |
14 | g.33800577A>G | CA389414326 | NPAS3 | c.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 |
14 | g.33800577A>T | CA389414327 | NPAS3 | c.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) | |
14 | g.33800578C>A | CA389414328 | NPAS3 | c.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 |
14 | g.33800578C>G | CA389414329 | NPAS3 | c.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 |
14 | g.33800578C>T | CA486093432 | NPAS3 | c.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=) | |
14 | g.33800579A= | CA2128328004 | NPAS3 | c.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=) | |
14 | g.33800579A>C | CA389414330 | NPAS3 | c.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 |
14 | g.33800579A>G | CA389414331 | NPAS3 | c.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 |
14 | g.33800579A>T | CA389414332 | NPAS3 | c.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) | |
14 | g.33800580del | CA2624512052 | NPAS3 | c.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 |
14 | g.33800580A>C | CA389414333 | NPAS3 | c.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) | |
14 | g.33800580A>G | CA389414334 | NPAS3 | c.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 |
14 | g.33800580A>T | CA389414335 | NPAS3 | c.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 |
14 | g.33800581G>A | CA486093437 | NPAS3 | c.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 |
14 | g.33800581G>C | CA389414336 | NPAS3 | c.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 |
14 | g.33800581G= | CA2128328009 | NPAS3 | c.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=) | |
14 | g.33800581G>T | CA389414337 | NPAS3 | c.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 |
14 | g.33800582C>A | CA389414338 | NPAS3 | c.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 |
14 | g.33800582C>G | CA389414340 | NPAS3 | c.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) | |
14 | g.33800582C>T | CA389414339 | NPAS3 | c.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 |
14 | g.33800583A>C | CA389414341 | NPAS3 | c.2276A>C (p.His759Pro) c.2285A>C (p.His762Pro) c.2176A>C c.793+3002A>C c.2180A>C (p.His727Pro) c.2237A>C (p.His746Pro) c.2186A>C (p.His729Pro) c.2291A>C (p.His764Pro) c.2198A>C (p.His733Pro) c.2297A>C (p.His766Pro) c.2327A>C (p.His776Pro) c.2318A>C (p.His773Pro) c.2288A>C (p.His763Pro) c.2231A>C (p.His744Pro) c.2177A>C (p.His726Pro) c.1970A>C (p.His657Pro) c.2384A>C (p.His795Pro) c.2378A>C (p.His793Pro) c.2375A>C (p.His792Pro) c.2435A>C (p.His812Pro) c.2426A>C (p.His809Pro) c.2345A>C (p.His782Pro) c.2294A>C (p.His765Pro) | gnomAD v4 |
14 | g.33800583A>G | CA389414342 | NPAS3 | c.2276A>G (p.His759Arg) c.2285A>G (p.His762Arg) c.2176A>G c.793+3002A>G c.2180A>G (p.His727Arg) c.2237A>G (p.His746Arg) c.2186A>G (p.His729Arg) c.2291A>G (p.His764Arg) c.2198A>G (p.His733Arg) c.2297A>G (p.His766Arg) c.2327A>G (p.His776Arg) c.2318A>G (p.His773Arg) c.2288A>G (p.His763Arg) c.2231A>G (p.His744Arg) c.2177A>G (p.His726Arg) c.1970A>G (p.His657Arg) c.2384A>G (p.His795Arg) c.2378A>G (p.His793Arg) c.2375A>G (p.His792Arg) c.2435A>G (p.His812Arg) c.2426A>G (p.His809Arg) c.2345A>G (p.His782Arg) c.2294A>G (p.His765Arg) | gnomAD v4 |
14 | g.33800583A>T | CA389414343 | NPAS3 | c.2276A>T (p.His759Leu) c.2285A>T (p.His762Leu) c.2176A>T c.793+3002A>T c.2180A>T (p.His727Leu) c.2237A>T (p.His746Leu) c.2186A>T (p.His729Leu) c.2291A>T (p.His764Leu) c.2198A>T (p.His733Leu) c.2297A>T (p.His766Leu) c.2327A>T (p.His776Leu) c.2318A>T (p.His773Leu) c.2288A>T (p.His763Leu) c.2231A>T (p.His744Leu) c.2177A>T (p.His726Leu) c.1970A>T (p.His657Leu) c.2384A>T (p.His795Leu) c.2378A>T (p.His793Leu) c.2375A>T (p.His792Leu) c.2435A>T (p.His812Leu) c.2426A>T (p.His809Leu) c.2345A>T (p.His782Leu) c.2294A>T (p.His765Leu) | |
14 | g.33800584C>A | CA389414344 | NPAS3 | c.2277C>A (p.His759Gln) c.2286C>A (p.His762Gln) c.2177C>A c.793+3003C>A c.2181C>A (p.His727Gln) c.2238C>A (p.His746Gln) c.2187C>A (p.His729Gln) c.2292C>A (p.His764Gln) c.2199C>A (p.His733Gln) c.2298C>A (p.His766Gln) c.2328C>A (p.His776Gln) c.2319C>A (p.His773Gln) c.2289C>A (p.His763Gln) c.2232C>A (p.His744Gln) c.2178C>A (p.His726Gln) c.1971C>A (p.His657Gln) c.2385C>A (p.His795Gln) c.2379C>A (p.His793Gln) c.2376C>A (p.His792Gln) c.2436C>A (p.His812Gln) c.2427C>A (p.His809Gln) c.2346C>A (p.His782Gln) c.2295C>A (p.His765Gln) | gnomAD v4 |
14 | g.33800584C= | CA2128328012 | NPAS3 | c.2277C= (p.His759=) c.2286C= (p.His762=) c.2177C= c.793+3003C= c.2181C= (p.His727=) c.2238C= (p.His746=) c.2187C= (p.His729=) c.2292C= (p.His764=) c.2199C= (p.His733=) c.2298C= (p.His766=) c.2328C= (p.His776=) c.2319C= (p.His773=) c.2289C= (p.His763=) c.2232C= (p.His744=) c.2178C= (p.His726=) c.1971C= (p.His657=) c.2385C= (p.His795=) c.2379C= (p.His793=) c.2376C= (p.His792=) c.2436C= (p.His812=) c.2427C= (p.His809=) c.2346C= (p.His782=) c.2295C= (p.His765=) | |
14 | g.33800584C>G | CA389414345 | NPAS3 | c.2277C>G (p.His759Gln) c.2286C>G (p.His762Gln) c.2177C>G c.793+3003C>G c.2181C>G (p.His727Gln) c.2238C>G (p.His746Gln) c.2187C>G (p.His729Gln) c.2292C>G (p.His764Gln) c.2199C>G (p.His733Gln) c.2298C>G (p.His766Gln) c.2328C>G (p.His776Gln) c.2319C>G (p.His773Gln) c.2289C>G (p.His763Gln) c.2232C>G (p.His744Gln) c.2178C>G (p.His726Gln) c.1971C>G (p.His657Gln) c.2385C>G (p.His795Gln) c.2379C>G (p.His793Gln) c.2376C>G (p.His792Gln) c.2436C>G (p.His812Gln) c.2427C>G (p.His809Gln) c.2346C>G (p.His782Gln) c.2295C>G (p.His765Gln) | gnomAD v4 |
14 | g.33800584C>T | CA486093445 | NPAS3 | c.2277C>T (p.His759=) c.2286C>T (p.His762=) c.2177C>T c.793+3003C>T c.2181C>T (p.His727=) c.2238C>T (p.His746=) c.2187C>T (p.His729=) c.2292C>T (p.His764=) c.2199C>T (p.His733=) c.2298C>T (p.His766=) c.2328C>T (p.His776=) c.2319C>T (p.His773=) c.2289C>T (p.His763=) c.2232C>T (p.His744=) c.2178C>T (p.His726=) c.1971C>T (p.His657=) c.2385C>T (p.His795=) c.2379C>T (p.His793=) c.2376C>T (p.His792=) c.2436C>T (p.His812=) c.2427C>T (p.His809=) c.2346C>T (p.His782=) c.2295C>T (p.His765=) | dbSNP gnomAD v4 |
14 | g.33800587del | CA2624512053 | NPAS3 | c.2280del (p.Asn762ThrfsTer?) c.2289del (p.Asn765ThrfsTer?) c.2180del c.793+3006del c.2184del (p.Asn730ThrfsTer?) c.2241del (p.Asn749ThrfsTer?) c.2190del (p.Asn732ThrfsTer?) c.2295del (p.Asn767ThrfsTer?) c.2202del (p.Asn736ThrfsTer?) c.2301del (p.Asn769ThrfsTer?) c.2331del (p.Asn779ThrfsTer?) c.2322del (p.Asn776ThrfsTer?) c.2292del (p.Asn766ThrfsTer?) c.2235del (p.Asn747ThrfsTer?) c.2181del (p.Asn729ThrfsTer?) c.1974del (p.Asn660ThrfsTer?) c.2388del (p.Asn798ThrfsTer?) c.2382del (p.Asn796ThrfsTer?) c.2379del (p.Asn795ThrfsTer?) c.2439del (p.Asn815ThrfsTer?) c.2430del (p.Asn812ThrfsTer?) c.2349del (p.Asn785ThrfsTer?) c.2298del (p.Asn768ThrfsTer?) | gnomAD v4 |
14 | g.33800585C>A | CA389414348 | NPAS3 | c.2278C>A (p.Pro760Thr) c.2287C>A (p.Pro763Thr) c.2178C>A c.793+3004C>A c.2182C>A (p.Pro728Thr) c.2239C>A (p.Pro747Thr) c.2188C>A (p.Pro730Thr) c.2293C>A (p.Pro765Thr) c.2200C>A (p.Pro734Thr) c.2299C>A (p.Pro767Thr) c.2329C>A (p.Pro777Thr) c.2320C>A (p.Pro774Thr) c.2290C>A (p.Pro764Thr) c.2233C>A (p.Pro745Thr) c.2179C>A (p.Pro727Thr) c.1972C>A (p.Pro658Thr) c.2386C>A (p.Pro796Thr) c.2380C>A (p.Pro794Thr) c.2377C>A (p.Pro793Thr) c.2437C>A (p.Pro813Thr) c.2428C>A (p.Pro810Thr) c.2347C>A (p.Pro783Thr) c.2296C>A (p.Pro766Thr) | gnomAD v4 |
14 | g.33800585C>G | CA389414347 | NPAS3 | c.2278C>G (p.Pro760Ala) c.2287C>G (p.Pro763Ala) c.2178C>G c.793+3004C>G c.2182C>G (p.Pro728Ala) c.2239C>G (p.Pro747Ala) c.2188C>G (p.Pro730Ala) c.2293C>G (p.Pro765Ala) c.2200C>G (p.Pro734Ala) c.2299C>G (p.Pro767Ala) c.2329C>G (p.Pro777Ala) c.2320C>G (p.Pro774Ala) c.2290C>G (p.Pro764Ala) c.2233C>G (p.Pro745Ala) c.2179C>G (p.Pro727Ala) c.1972C>G (p.Pro658Ala) c.2386C>G (p.Pro796Ala) c.2380C>G (p.Pro794Ala) c.2377C>G (p.Pro793Ala) c.2437C>G (p.Pro813Ala) c.2428C>G (p.Pro810Ala) c.2347C>G (p.Pro783Ala) c.2296C>G (p.Pro766Ala) | |
14 | g.33800585C>T | CA389414346 | NPAS3 | c.2278C>T (p.Pro760Ser) c.2287C>T (p.Pro763Ser) c.2178C>T c.793+3004C>T c.2182C>T (p.Pro728Ser) c.2239C>T (p.Pro747Ser) c.2188C>T (p.Pro730Ser) c.2293C>T (p.Pro765Ser) c.2200C>T (p.Pro734Ser) c.2299C>T (p.Pro767Ser) c.2329C>T (p.Pro777Ser) c.2320C>T (p.Pro774Ser) c.2290C>T (p.Pro764Ser) c.2233C>T (p.Pro745Ser) c.2179C>T (p.Pro727Ser) c.1972C>T (p.Pro658Ser) c.2386C>T (p.Pro796Ser) c.2380C>T (p.Pro794Ser) c.2377C>T (p.Pro793Ser) c.2437C>T (p.Pro813Ser) c.2428C>T (p.Pro810Ser) c.2347C>T (p.Pro783Ser) c.2296C>T (p.Pro766Ser) | |
14 | g.33800586C>A | CA389414349 | NPAS3 | c.2279C>A (p.Pro760His) c.2288C>A (p.Pro763His) c.2179C>A c.793+3005C>A c.2183C>A (p.Pro728His) c.2240C>A (p.Pro747His) c.2189C>A (p.Pro730His) c.2294C>A (p.Pro765His) c.2201C>A (p.Pro734His) c.2300C>A (p.Pro767His) c.2330C>A (p.Pro777His) c.2321C>A (p.Pro774His) c.2291C>A (p.Pro764His) c.2234C>A (p.Pro745His) c.2180C>A (p.Pro727His) c.1973C>A (p.Pro658His) c.2387C>A (p.Pro796His) c.2381C>A (p.Pro794His) c.2378C>A (p.Pro793His) c.2438C>A (p.Pro813His) c.2429C>A (p.Pro810His) c.2348C>A (p.Pro783His) c.2297C>A (p.Pro766His) | gnomAD v4 |
14 | g.33800586C>G | CA389414350 | NPAS3 | c.2279C>G (p.Pro760Arg) c.2288C>G (p.Pro763Arg) c.2179C>G c.793+3005C>G c.2183C>G (p.Pro728Arg) c.2240C>G (p.Pro747Arg) c.2189C>G (p.Pro730Arg) c.2294C>G (p.Pro765Arg) c.2201C>G (p.Pro734Arg) c.2300C>G (p.Pro767Arg) c.2330C>G (p.Pro777Arg) c.2321C>G (p.Pro774Arg) c.2291C>G (p.Pro764Arg) c.2234C>G (p.Pro745Arg) c.2180C>G (p.Pro727Arg) c.1973C>G (p.Pro658Arg) c.2387C>G (p.Pro796Arg) c.2381C>G (p.Pro794Arg) c.2378C>G (p.Pro793Arg) c.2438C>G (p.Pro813Arg) c.2429C>G (p.Pro810Arg) c.2348C>G (p.Pro783Arg) c.2297C>G (p.Pro766Arg) | gnomAD v4 |
14 | g.33800586C>T | CA389414351 | NPAS3 | c.2279C>T (p.Pro760Leu) c.2288C>T (p.Pro763Leu) c.2179C>T c.793+3005C>T c.2183C>T (p.Pro728Leu) c.2240C>T (p.Pro747Leu) c.2189C>T (p.Pro730Leu) c.2294C>T (p.Pro765Leu) c.2201C>T (p.Pro734Leu) c.2300C>T (p.Pro767Leu) c.2330C>T (p.Pro777Leu) c.2321C>T (p.Pro774Leu) c.2291C>T (p.Pro764Leu) c.2234C>T (p.Pro745Leu) c.2180C>T (p.Pro727Leu) c.1973C>T (p.Pro658Leu) c.2387C>T (p.Pro796Leu) c.2381C>T (p.Pro794Leu) c.2378C>T (p.Pro793Leu) c.2438C>T (p.Pro813Leu) c.2429C>T (p.Pro810Leu) c.2348C>T (p.Pro783Leu) c.2297C>T (p.Pro766Leu) | gnomAD v4 |
14 | g.33800587C>A | CA486093450 | NPAS3 | c.2280C>A (p.Pro760=) c.2289C>A (p.Pro763=) c.2180C>A c.793+3006C>A c.2184C>A (p.Pro728=) c.2241C>A (p.Pro747=) c.2190C>A (p.Pro730=) c.2295C>A (p.Pro765=) c.2202C>A (p.Pro734=) c.2301C>A (p.Pro767=) c.2331C>A (p.Pro777=) c.2322C>A (p.Pro774=) c.2292C>A (p.Pro764=) c.2235C>A (p.Pro745=) c.2181C>A (p.Pro727=) c.1974C>A (p.Pro658=) c.2388C>A (p.Pro796=) c.2382C>A (p.Pro794=) c.2379C>A (p.Pro793=) c.2439C>A (p.Pro813=) c.2430C>A (p.Pro810=) c.2349C>A (p.Pro783=) c.2298C>A (p.Pro766=) | gnomAD v4 |
14 | g.33800587C>G | CA486093451 | NPAS3 | c.2280C>G (p.Pro760=) c.2289C>G (p.Pro763=) c.2180C>G c.793+3006C>G c.2184C>G (p.Pro728=) c.2241C>G (p.Pro747=) c.2190C>G (p.Pro730=) c.2295C>G (p.Pro765=) c.2202C>G (p.Pro734=) c.2301C>G (p.Pro767=) c.2331C>G (p.Pro777=) c.2322C>G (p.Pro774=) c.2292C>G (p.Pro764=) c.2235C>G (p.Pro745=) c.2181C>G (p.Pro727=) c.1974C>G (p.Pro658=) c.2388C>G (p.Pro796=) c.2382C>G (p.Pro794=) c.2379C>G (p.Pro793=) c.2439C>G (p.Pro813=) c.2430C>G (p.Pro810=) c.2349C>G (p.Pro783=) c.2298C>G (p.Pro766=) | |
14 | g.33800587C>T | CA486093452 | NPAS3 | c.2280C>T (p.Pro760=) c.2289C>T (p.Pro763=) c.2180C>T c.793+3006C>T c.2184C>T (p.Pro728=) c.2241C>T (p.Pro747=) c.2190C>T (p.Pro730=) c.2295C>T (p.Pro765=) c.2202C>T (p.Pro734=) c.2301C>T (p.Pro767=) c.2331C>T (p.Pro777=) c.2322C>T (p.Pro774=) c.2292C>T (p.Pro764=) c.2235C>T (p.Pro745=) c.2181C>T (p.Pro727=) c.1974C>T (p.Pro658=) c.2388C>T (p.Pro796=) c.2382C>T (p.Pro794=) c.2379C>T (p.Pro793=) c.2439C>T (p.Pro813=) c.2430C>T (p.Pro810=) c.2349C>T (p.Pro783=) c.2298C>T (p.Pro766=) | gnomAD v4 |
14 | g.33800588G>A | CA389414352 | NPAS3 | c.2281G>A (p.Gly761Arg) c.2290G>A (p.Gly764Arg) c.2181G>A c.793+3007G>A c.2185G>A (p.Gly729Arg) c.2242G>A (p.Gly748Arg) c.2191G>A (p.Gly731Arg) c.2296G>A (p.Gly766Arg) c.2203G>A (p.Gly735Arg) c.2302G>A (p.Gly768Arg) c.2332G>A (p.Gly778Arg) c.2323G>A (p.Gly775Arg) c.2293G>A (p.Gly765Arg) c.2236G>A (p.Gly746Arg) c.2182G>A (p.Gly728Arg) c.1975G>A (p.Gly659Arg) c.2389G>A (p.Gly797Arg) c.2383G>A (p.Gly795Arg) c.2380G>A (p.Gly794Arg) c.2440G>A (p.Gly814Arg) c.2431G>A (p.Gly811Arg) c.2350G>A (p.Gly784Arg) c.2299G>A (p.Gly767Arg) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800588G>C | CA389414353 | NPAS3 | c.2281G>C (p.Gly761Arg) c.2290G>C (p.Gly764Arg) c.2181G>C c.793+3007G>C c.2185G>C (p.Gly729Arg) c.2242G>C (p.Gly748Arg) c.2191G>C (p.Gly731Arg) c.2296G>C (p.Gly766Arg) c.2203G>C (p.Gly735Arg) c.2302G>C (p.Gly768Arg) c.2332G>C (p.Gly778Arg) c.2323G>C (p.Gly775Arg) c.2293G>C (p.Gly765Arg) c.2236G>C (p.Gly746Arg) c.2182G>C (p.Gly728Arg) c.1975G>C (p.Gly659Arg) c.2389G>C (p.Gly797Arg) c.2383G>C (p.Gly795Arg) c.2380G>C (p.Gly794Arg) c.2440G>C (p.Gly814Arg) c.2431G>C (p.Gly811Arg) c.2350G>C (p.Gly784Arg) c.2299G>C (p.Gly767Arg) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800588G= | CA2128328015 | NPAS3 | c.2281G= (p.Gly761=) c.2290G= (p.Gly764=) c.2181G= c.793+3007G= c.2185G= (p.Gly729=) c.2242G= (p.Gly748=) c.2191G= (p.Gly731=) c.2296G= (p.Gly766=) c.2203G= (p.Gly735=) c.2302G= (p.Gly768=) c.2332G= (p.Gly778=) c.2323G= (p.Gly775=) c.2293G= (p.Gly765=) c.2236G= (p.Gly746=) c.2182G= (p.Gly728=) c.1975G= (p.Gly659=) c.2389G= (p.Gly797=) c.2383G= (p.Gly795=) c.2380G= (p.Gly794=) c.2440G= (p.Gly814=) c.2431G= (p.Gly811=) c.2350G= (p.Gly784=) c.2299G= (p.Gly767=) | |
14 | g.33800588G>T | CA389414354 | NPAS3 | c.2281G>T (p.Gly761Trp) c.2290G>T (p.Gly764Trp) c.2181G>T c.793+3007G>T c.2185G>T (p.Gly729Trp) c.2242G>T (p.Gly748Trp) c.2191G>T (p.Gly731Trp) c.2296G>T (p.Gly766Trp) c.2203G>T (p.Gly735Trp) c.2302G>T (p.Gly768Trp) c.2332G>T (p.Gly778Trp) c.2323G>T (p.Gly775Trp) c.2293G>T (p.Gly765Trp) c.2236G>T (p.Gly746Trp) c.2182G>T (p.Gly728Trp) c.1975G>T (p.Gly659Trp) c.2389G>T (p.Gly797Trp) c.2383G>T (p.Gly795Trp) c.2380G>T (p.Gly794Trp) c.2440G>T (p.Gly814Trp) c.2431G>T (p.Gly811Trp) c.2350G>T (p.Gly784Trp) c.2299G>T (p.Gly767Trp) | gnomAD v4 |
14 | g.33800590del | CA2624512054 | NPAS3 | c.2283del (p.Asn762ThrfsTer?) c.2292del (p.Asn765ThrfsTer?) c.2183del c.793+3009del c.2187del (p.Asn730ThrfsTer?) c.2244del (p.Asn749ThrfsTer?) c.2193del (p.Asn732ThrfsTer?) c.2298del (p.Asn767ThrfsTer?) c.2205del (p.Asn736ThrfsTer?) c.2304del (p.Asn769ThrfsTer?) c.2334del (p.Asn779ThrfsTer?) c.2325del (p.Asn776ThrfsTer?) c.2295del (p.Asn766ThrfsTer?) c.2238del (p.Asn747ThrfsTer?) c.2184del (p.Asn729ThrfsTer?) c.1977del (p.Asn660ThrfsTer?) c.2391del (p.Asn798ThrfsTer?) c.2385del (p.Asn796ThrfsTer?) c.2382del (p.Asn795ThrfsTer?) c.2442del (p.Asn815ThrfsTer?) c.2433del (p.Asn812ThrfsTer?) c.2352del (p.Asn785ThrfsTer?) c.2301del (p.Asn768ThrfsTer?) | gnomAD v4 |
14 | g.33800589G>A | CA389414355 | NPAS3 | c.2282G>A (p.Gly761Glu) c.2291G>A (p.Gly764Glu) c.2182G>A c.793+3008G>A c.2186G>A (p.Gly729Glu) c.2243G>A (p.Gly748Glu) c.2192G>A (p.Gly731Glu) c.2297G>A (p.Gly766Glu) c.2204G>A (p.Gly735Glu) c.2303G>A (p.Gly768Glu) c.2333G>A (p.Gly778Glu) c.2324G>A (p.Gly775Glu) c.2294G>A (p.Gly765Glu) c.2237G>A (p.Gly746Glu) c.2183G>A (p.Gly728Glu) c.1976G>A (p.Gly659Glu) c.2390G>A (p.Gly797Glu) c.2384G>A (p.Gly795Glu) c.2381G>A (p.Gly794Glu) c.2441G>A (p.Gly814Glu) c.2432G>A (p.Gly811Glu) c.2351G>A (p.Gly784Glu) c.2300G>A (p.Gly767Glu) | gnomAD v4 |
14 | g.33800589G>C | CA389414357 | NPAS3 | c.2282G>C (p.Gly761Ala) c.2291G>C (p.Gly764Ala) c.2182G>C c.793+3008G>C c.2186G>C (p.Gly729Ala) c.2243G>C (p.Gly748Ala) c.2192G>C (p.Gly731Ala) c.2297G>C (p.Gly766Ala) c.2204G>C (p.Gly735Ala) c.2303G>C (p.Gly768Ala) c.2333G>C (p.Gly778Ala) c.2324G>C (p.Gly775Ala) c.2294G>C (p.Gly765Ala) c.2237G>C (p.Gly746Ala) c.2183G>C (p.Gly728Ala) c.1976G>C (p.Gly659Ala) c.2390G>C (p.Gly797Ala) c.2384G>C (p.Gly795Ala) c.2381G>C (p.Gly794Ala) c.2441G>C (p.Gly814Ala) c.2432G>C (p.Gly811Ala) c.2351G>C (p.Gly784Ala) c.2300G>C (p.Gly767Ala) | |
14 | g.33800589G>T | CA389414356 | NPAS3 | c.2282G>T (p.Gly761Val) c.2291G>T (p.Gly764Val) c.2182G>T c.793+3008G>T c.2186G>T (p.Gly729Val) c.2243G>T (p.Gly748Val) c.2192G>T (p.Gly731Val) c.2297G>T (p.Gly766Val) c.2204G>T (p.Gly735Val) c.2303G>T (p.Gly768Val) c.2333G>T (p.Gly778Val) c.2324G>T (p.Gly775Val) c.2294G>T (p.Gly765Val) c.2237G>T (p.Gly746Val) c.2183G>T (p.Gly728Val) c.1976G>T (p.Gly659Val) c.2390G>T (p.Gly797Val) c.2384G>T (p.Gly795Val) c.2381G>T (p.Gly794Val) c.2441G>T (p.Gly814Val) c.2432G>T (p.Gly811Val) c.2351G>T (p.Gly784Val) c.2300G>T (p.Gly767Val) | gnomAD v4 |