Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.33800359G>A | CA486093045 | NPAS3 | c.2052G>A (p.Lys684=) c.2061G>A (p.Lys687=) c.1952G>A c.793+2778G>A c.1956G>A (p.Lys652=) c.2013G>A (p.Lys671=) c.1962G>A (p.Lys654=) c.2067G>A (p.Lys689=) c.1974G>A (p.Lys658=) c.2073G>A (p.Lys691=) c.2103G>A (p.Lys701=) c.2094G>A (p.Lys698=) c.2064G>A (p.Lys688=) c.2007G>A (p.Lys669=) c.1953G>A (p.Lys651=) c.1746G>A (p.Lys582=) c.2160G>A (p.Lys720=) c.2154G>A (p.Lys718=) c.2151G>A (p.Lys717=) c.2211G>A (p.Lys737=) c.2202G>A (p.Lys734=) c.2121G>A (p.Lys707=) c.2070G>A (p.Lys690=) | |
14 | g.33800359G>C | CA389413699 | NPAS3 | c.2052G>C (p.Lys684Asn) c.2061G>C (p.Lys687Asn) c.1952G>C c.793+2778G>C c.1956G>C (p.Lys652Asn) c.2013G>C (p.Lys671Asn) c.1962G>C (p.Lys654Asn) c.2067G>C (p.Lys689Asn) c.1974G>C (p.Lys658Asn) c.2073G>C (p.Lys691Asn) c.2103G>C (p.Lys701Asn) c.2094G>C (p.Lys698Asn) c.2064G>C (p.Lys688Asn) c.2007G>C (p.Lys669Asn) c.1953G>C (p.Lys651Asn) c.1746G>C (p.Lys582Asn) c.2160G>C (p.Lys720Asn) c.2154G>C (p.Lys718Asn) c.2151G>C (p.Lys717Asn) c.2211G>C (p.Lys737Asn) c.2202G>C (p.Lys734Asn) c.2121G>C (p.Lys707Asn) c.2070G>C (p.Lys690Asn) | |
14 | g.33800359G>T | CA389413701 | NPAS3 | c.2052G>T (p.Lys684Asn) c.2061G>T (p.Lys687Asn) c.1952G>T c.793+2778G>T c.1956G>T (p.Lys652Asn) c.2013G>T (p.Lys671Asn) c.1962G>T (p.Lys654Asn) c.2067G>T (p.Lys689Asn) c.1974G>T (p.Lys658Asn) c.2073G>T (p.Lys691Asn) c.2103G>T (p.Lys701Asn) c.2094G>T (p.Lys698Asn) c.2064G>T (p.Lys688Asn) c.2007G>T (p.Lys669Asn) c.1953G>T (p.Lys651Asn) c.1746G>T (p.Lys582Asn) c.2160G>T (p.Lys720Asn) c.2154G>T (p.Lys718Asn) c.2151G>T (p.Lys717Asn) c.2211G>T (p.Lys737Asn) c.2202G>T (p.Lys734Asn) c.2121G>T (p.Lys707Asn) c.2070G>T (p.Lys690Asn) | |
14 | g.33800360C>A | CA7150927 | NPAS3 | c.2053C>A (p.Pro685Thr) c.2062C>A (p.Pro688Thr) c.1953C>A c.793+2779C>A c.1957C>A (p.Pro653Thr) c.2014C>A (p.Pro672Thr) c.1963C>A (p.Pro655Thr) c.2068C>A (p.Pro690Thr) c.1975C>A (p.Pro659Thr) c.2074C>A (p.Pro692Thr) c.2104C>A (p.Pro702Thr) c.2095C>A (p.Pro699Thr) c.2065C>A (p.Pro689Thr) c.2008C>A (p.Pro670Thr) c.1954C>A (p.Pro652Thr) c.1747C>A (p.Pro583Thr) c.2161C>A (p.Pro721Thr) c.2155C>A (p.Pro719Thr) c.2152C>A (p.Pro718Thr) c.2212C>A (p.Pro738Thr) c.2203C>A (p.Pro735Thr) c.2122C>A (p.Pro708Thr) c.2071C>A (p.Pro691Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800360C= | CA2128327303 | NPAS3 | c.2053C= (p.Pro685=) c.2062C= (p.Pro688=) c.1953C= c.793+2779C= c.1957C= (p.Pro653=) c.2014C= (p.Pro672=) c.1963C= (p.Pro655=) c.2068C= (p.Pro690=) c.1975C= (p.Pro659=) c.2074C= (p.Pro692=) c.2104C= (p.Pro702=) c.2095C= (p.Pro699=) c.2065C= (p.Pro689=) c.2008C= (p.Pro670=) c.1954C= (p.Pro652=) c.1747C= (p.Pro583=) c.2161C= (p.Pro721=) c.2155C= (p.Pro719=) c.2152C= (p.Pro718=) c.2212C= (p.Pro738=) c.2203C= (p.Pro735=) c.2122C= (p.Pro708=) c.2071C= (p.Pro691=) | |
14 | g.33800360C>G | CA389413704 | NPAS3 | c.2053C>G (p.Pro685Ala) c.2062C>G (p.Pro688Ala) c.1953C>G c.793+2779C>G c.1957C>G (p.Pro653Ala) c.2014C>G (p.Pro672Ala) c.1963C>G (p.Pro655Ala) c.2068C>G (p.Pro690Ala) c.1975C>G (p.Pro659Ala) c.2074C>G (p.Pro692Ala) c.2104C>G (p.Pro702Ala) c.2095C>G (p.Pro699Ala) c.2065C>G (p.Pro689Ala) c.2008C>G (p.Pro670Ala) c.1954C>G (p.Pro652Ala) c.1747C>G (p.Pro583Ala) c.2161C>G (p.Pro721Ala) c.2155C>G (p.Pro719Ala) c.2152C>G (p.Pro718Ala) c.2212C>G (p.Pro738Ala) c.2203C>G (p.Pro735Ala) c.2122C>G (p.Pro708Ala) c.2071C>G (p.Pro691Ala) | dbSNP gnomAD v4 |
14 | g.33800360C>T | CA389413706 | NPAS3 | c.2053C>T (p.Pro685Ser) c.2062C>T (p.Pro688Ser) c.1953C>T c.793+2779C>T c.1957C>T (p.Pro653Ser) c.2014C>T (p.Pro672Ser) c.1963C>T (p.Pro655Ser) c.2068C>T (p.Pro690Ser) c.1975C>T (p.Pro659Ser) c.2074C>T (p.Pro692Ser) c.2104C>T (p.Pro702Ser) c.2095C>T (p.Pro699Ser) c.2065C>T (p.Pro689Ser) c.2008C>T (p.Pro670Ser) c.1954C>T (p.Pro652Ser) c.1747C>T (p.Pro583Ser) c.2161C>T (p.Pro721Ser) c.2155C>T (p.Pro719Ser) c.2152C>T (p.Pro718Ser) c.2212C>T (p.Pro738Ser) c.2203C>T (p.Pro735Ser) c.2122C>T (p.Pro708Ser) c.2071C>T (p.Pro691Ser) | dbSNP gnomAD v4 |
14 | g.33800365dup | CA2624512029 | NPAS3 | c.2058dup (p.Ser687GlnfsTer3) c.2067dup (p.Ser690GlnfsTer3) c.1958dup c.793+2784dup c.1962dup (p.Ser655GlnfsTer3) c.2019dup (p.Ser674GlnfsTer3) c.1968dup (p.Ser657GlnfsTer3) c.2073dup (p.Ser692GlnfsTer3) c.1980dup (p.Ser661GlnfsTer3) c.2079dup (p.Ser694GlnfsTer3) c.2109dup (p.Ser704GlnfsTer3) c.2100dup (p.Ser701GlnfsTer3) c.2070dup (p.Ser691GlnfsTer3) c.2013dup (p.Ser672GlnfsTer3) c.1959dup (p.Ser654GlnfsTer3) c.1752dup (p.Ser585GlnfsTer3) c.2166dup (p.Ser723GlnfsTer3) c.2160dup (p.Ser721GlnfsTer3) c.2157dup (p.Ser720GlnfsTer3) c.2217dup (p.Ser740GlnfsTer3) c.2208dup (p.Ser737GlnfsTer3) c.2127dup (p.Ser710GlnfsTer3) c.2076dup (p.Ser693GlnfsTer3) | gnomAD v4 |
14 | g.33800365del | CA2624512030 | NPAS3 | c.2058del (p.Ser687AlafsTer?) c.2067del (p.Ser690AlafsTer?) c.1958del c.793+2784del c.1962del (p.Ser655AlafsTer?) c.2019del (p.Ser674AlafsTer?) c.1968del (p.Ser657AlafsTer?) c.2073del (p.Ser692AlafsTer?) c.1980del (p.Ser661AlafsTer?) c.2079del (p.Ser694AlafsTer?) c.2109del (p.Ser704AlafsTer?) c.2100del (p.Ser701AlafsTer?) c.2070del (p.Ser691AlafsTer?) c.2013del (p.Ser672AlafsTer?) c.1959del (p.Ser654AlafsTer?) c.1752del (p.Ser585AlafsTer?) c.2166del (p.Ser723AlafsTer?) c.2160del (p.Ser721AlafsTer?) c.2157del (p.Ser720AlafsTer?) c.2217del (p.Ser740AlafsTer?) c.2208del (p.Ser737AlafsTer?) c.2127del (p.Ser710AlafsTer?) c.2076del (p.Ser693AlafsTer?) | gnomAD v4 |
14 | g.33800360_33800361insA | CA2729381255 | NPAS3 | c.2053_2054insA (p.Pro685HisfsTer5) c.2062_2063insA (p.Pro688HisfsTer5) c.1953_1954insA c.793+2779_793+2780insA c.1957_1958insA (p.Pro653HisfsTer5) c.2014_2015insA (p.Pro672HisfsTer5) c.1963_1964insA (p.Pro655HisfsTer5) c.2068_2069insA (p.Pro690HisfsTer5) c.1975_1976insA (p.Pro659HisfsTer5) c.2074_2075insA (p.Pro692HisfsTer5) c.2104_2105insA (p.Pro702HisfsTer5) c.2095_2096insA (p.Pro699HisfsTer5) c.2065_2066insA (p.Pro689HisfsTer5) c.2008_2009insA (p.Pro670HisfsTer5) c.1954_1955insA (p.Pro652HisfsTer5) c.1747_1748insA (p.Pro583HisfsTer5) c.2161_2162insA (p.Pro721HisfsTer5) c.2155_2156insA (p.Pro719HisfsTer5) c.2152_2153insA (p.Pro718HisfsTer5) c.2212_2213insA (p.Pro738HisfsTer5) c.2203_2204insA (p.Pro735HisfsTer5) c.2122_2123insA (p.Pro708HisfsTer5) c.2071_2072insA (p.Pro691HisfsTer5) | dbSNP |
14 | g.33800361C>A | CA389413708 | NPAS3 | c.2054C>A (p.Pro685His) c.2063C>A (p.Pro688His) c.1954C>A c.793+2780C>A c.1958C>A (p.Pro653His) c.2015C>A (p.Pro672His) c.1964C>A (p.Pro655His) c.2069C>A (p.Pro690His) c.1976C>A (p.Pro659His) c.2075C>A (p.Pro692His) c.2105C>A (p.Pro702His) c.2096C>A (p.Pro699His) c.2066C>A (p.Pro689His) c.2009C>A (p.Pro670His) c.1955C>A (p.Pro652His) c.1748C>A (p.Pro583His) c.2162C>A (p.Pro721His) c.2156C>A (p.Pro719His) c.2153C>A (p.Pro718His) c.2213C>A (p.Pro738His) c.2204C>A (p.Pro735His) c.2123C>A (p.Pro708His) c.2072C>A (p.Pro691His) | |
14 | g.33800361C= | CA2128327306 | NPAS3 | c.2054C= (p.Pro685=) c.2063C= (p.Pro688=) c.1954C= c.793+2780C= c.1958C= (p.Pro653=) c.2015C= (p.Pro672=) c.1964C= (p.Pro655=) c.2069C= (p.Pro690=) c.1976C= (p.Pro659=) c.2075C= (p.Pro692=) c.2105C= (p.Pro702=) c.2096C= (p.Pro699=) c.2066C= (p.Pro689=) c.2009C= (p.Pro670=) c.1955C= (p.Pro652=) c.1748C= (p.Pro583=) c.2162C= (p.Pro721=) c.2156C= (p.Pro719=) c.2153C= (p.Pro718=) c.2213C= (p.Pro738=) c.2204C= (p.Pro735=) c.2123C= (p.Pro708=) c.2072C= (p.Pro691=) | |
14 | g.33800361C>G | CA389413710 | NPAS3 | c.2054C>G (p.Pro685Arg) c.2063C>G (p.Pro688Arg) c.1954C>G c.793+2780C>G c.1958C>G (p.Pro653Arg) c.2015C>G (p.Pro672Arg) c.1964C>G (p.Pro655Arg) c.2069C>G (p.Pro690Arg) c.1976C>G (p.Pro659Arg) c.2075C>G (p.Pro692Arg) c.2105C>G (p.Pro702Arg) c.2096C>G (p.Pro699Arg) c.2066C>G (p.Pro689Arg) c.2009C>G (p.Pro670Arg) c.1955C>G (p.Pro652Arg) c.1748C>G (p.Pro583Arg) c.2162C>G (p.Pro721Arg) c.2156C>G (p.Pro719Arg) c.2153C>G (p.Pro718Arg) c.2213C>G (p.Pro738Arg) c.2204C>G (p.Pro735Arg) c.2123C>G (p.Pro708Arg) c.2072C>G (p.Pro691Arg) | |
14 | g.33800361C>T | CA389413712 | NPAS3 | c.2054C>T (p.Pro685Leu) c.2063C>T (p.Pro688Leu) c.1954C>T c.793+2780C>T c.1958C>T (p.Pro653Leu) c.2015C>T (p.Pro672Leu) c.1964C>T (p.Pro655Leu) c.2069C>T (p.Pro690Leu) c.1976C>T (p.Pro659Leu) c.2075C>T (p.Pro692Leu) c.2105C>T (p.Pro702Leu) c.2096C>T (p.Pro699Leu) c.2066C>T (p.Pro689Leu) c.2009C>T (p.Pro670Leu) c.1955C>T (p.Pro652Leu) c.1748C>T (p.Pro583Leu) c.2162C>T (p.Pro721Leu) c.2156C>T (p.Pro719Leu) c.2153C>T (p.Pro718Leu) c.2213C>T (p.Pro738Leu) c.2204C>T (p.Pro735Leu) c.2123C>T (p.Pro708Leu) c.2072C>T (p.Pro691Leu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800362C>A | CA486093051 | NPAS3 | c.2055C>A (p.Pro685=) c.2064C>A (p.Pro688=) c.1955C>A c.793+2781C>A c.1959C>A (p.Pro653=) c.2016C>A (p.Pro672=) c.1965C>A (p.Pro655=) c.2070C>A (p.Pro690=) c.1977C>A (p.Pro659=) c.2076C>A (p.Pro692=) c.2106C>A (p.Pro702=) c.2097C>A (p.Pro699=) c.2067C>A (p.Pro689=) c.2010C>A (p.Pro670=) c.1956C>A (p.Pro652=) c.1749C>A (p.Pro583=) c.2163C>A (p.Pro721=) c.2157C>A (p.Pro719=) c.2154C>A (p.Pro718=) c.2214C>A (p.Pro738=) c.2205C>A (p.Pro735=) c.2124C>A (p.Pro708=) c.2073C>A (p.Pro691=) | |
14 | g.33800362C= | CA2128327309 | NPAS3 | c.2055C= (p.Pro685=) c.2064C= (p.Pro688=) c.1955C= c.793+2781C= c.1959C= (p.Pro653=) c.2016C= (p.Pro672=) c.1965C= (p.Pro655=) c.2070C= (p.Pro690=) c.1977C= (p.Pro659=) c.2076C= (p.Pro692=) c.2106C= (p.Pro702=) c.2097C= (p.Pro699=) c.2067C= (p.Pro689=) c.2010C= (p.Pro670=) c.1956C= (p.Pro652=) c.1749C= (p.Pro583=) c.2163C= (p.Pro721=) c.2157C= (p.Pro719=) c.2154C= (p.Pro718=) c.2214C= (p.Pro738=) c.2205C= (p.Pro735=) c.2124C= (p.Pro708=) c.2073C= (p.Pro691=) | |
14 | g.33800362C>G | CA486093049 | NPAS3 | c.2055C>G (p.Pro685=) c.2064C>G (p.Pro688=) c.1955C>G c.793+2781C>G c.1959C>G (p.Pro653=) c.2016C>G (p.Pro672=) c.1965C>G (p.Pro655=) c.2070C>G (p.Pro690=) c.1977C>G (p.Pro659=) c.2076C>G (p.Pro692=) c.2106C>G (p.Pro702=) c.2097C>G (p.Pro699=) c.2067C>G (p.Pro689=) c.2010C>G (p.Pro670=) c.1956C>G (p.Pro652=) c.1749C>G (p.Pro583=) c.2163C>G (p.Pro721=) c.2157C>G (p.Pro719=) c.2154C>G (p.Pro718=) c.2214C>G (p.Pro738=) c.2205C>G (p.Pro735=) c.2124C>G (p.Pro708=) c.2073C>G (p.Pro691=) | |
14 | g.33800362C>T | CA486093050 | NPAS3 | c.2055C>T (p.Pro685=) c.2064C>T (p.Pro688=) c.1955C>T c.793+2781C>T c.1959C>T (p.Pro653=) c.2016C>T (p.Pro672=) c.1965C>T (p.Pro655=) c.2070C>T (p.Pro690=) c.1977C>T (p.Pro659=) c.2076C>T (p.Pro692=) c.2106C>T (p.Pro702=) c.2097C>T (p.Pro699=) c.2067C>T (p.Pro689=) c.2010C>T (p.Pro670=) c.1956C>T (p.Pro652=) c.1749C>T (p.Pro583=) c.2163C>T (p.Pro721=) c.2157C>T (p.Pro719=) c.2154C>T (p.Pro718=) c.2214C>T (p.Pro738=) c.2205C>T (p.Pro735=) c.2124C>T (p.Pro708=) c.2073C>T (p.Pro691=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800363C>A | CA389413716 | NPAS3 | c.2056C>A (p.Pro686Thr) c.2065C>A (p.Pro689Thr) c.1956C>A c.793+2782C>A c.1960C>A (p.Pro654Thr) c.2017C>A (p.Pro673Thr) c.1966C>A (p.Pro656Thr) c.2071C>A (p.Pro691Thr) c.1978C>A (p.Pro660Thr) c.2077C>A (p.Pro693Thr) c.2107C>A (p.Pro703Thr) c.2098C>A (p.Pro700Thr) c.2068C>A (p.Pro690Thr) c.2011C>A (p.Pro671Thr) c.1957C>A (p.Pro653Thr) c.1750C>A (p.Pro584Thr) c.2164C>A (p.Pro722Thr) c.2158C>A (p.Pro720Thr) c.2155C>A (p.Pro719Thr) c.2215C>A (p.Pro739Thr) c.2206C>A (p.Pro736Thr) c.2125C>A (p.Pro709Thr) c.2074C>A (p.Pro692Thr) | |
14 | g.33800363C>G | CA389413717 | NPAS3 | c.2056C>G (p.Pro686Ala) c.2065C>G (p.Pro689Ala) c.1956C>G c.793+2782C>G c.1960C>G (p.Pro654Ala) c.2017C>G (p.Pro673Ala) c.1966C>G (p.Pro656Ala) c.2071C>G (p.Pro691Ala) c.1978C>G (p.Pro660Ala) c.2077C>G (p.Pro693Ala) c.2107C>G (p.Pro703Ala) c.2098C>G (p.Pro700Ala) c.2068C>G (p.Pro690Ala) c.2011C>G (p.Pro671Ala) c.1957C>G (p.Pro653Ala) c.1750C>G (p.Pro584Ala) c.2164C>G (p.Pro722Ala) c.2158C>G (p.Pro720Ala) c.2155C>G (p.Pro719Ala) c.2215C>G (p.Pro739Ala) c.2206C>G (p.Pro736Ala) c.2125C>G (p.Pro709Ala) c.2074C>G (p.Pro692Ala) | |
14 | g.33800363C>T | CA389413714 | NPAS3 | c.2056C>T (p.Pro686Ser) c.2065C>T (p.Pro689Ser) c.1956C>T c.793+2782C>T c.1960C>T (p.Pro654Ser) c.2017C>T (p.Pro673Ser) c.1966C>T (p.Pro656Ser) c.2071C>T (p.Pro691Ser) c.1978C>T (p.Pro660Ser) c.2077C>T (p.Pro693Ser) c.2107C>T (p.Pro703Ser) c.2098C>T (p.Pro700Ser) c.2068C>T (p.Pro690Ser) c.2011C>T (p.Pro671Ser) c.1957C>T (p.Pro653Ser) c.1750C>T (p.Pro584Ser) c.2164C>T (p.Pro722Ser) c.2158C>T (p.Pro720Ser) c.2155C>T (p.Pro719Ser) c.2215C>T (p.Pro739Ser) c.2206C>T (p.Pro736Ser) c.2125C>T (p.Pro709Ser) c.2074C>T (p.Pro692Ser) | |
14 | g.33800364C>A | CA389413724 | NPAS3 | c.2057C>A (p.Pro686His) c.2066C>A (p.Pro689His) c.1957C>A c.793+2783C>A c.1961C>A (p.Pro654His) c.2018C>A (p.Pro673His) c.1967C>A (p.Pro656His) c.2072C>A (p.Pro691His) c.1979C>A (p.Pro660His) c.2078C>A (p.Pro693His) c.2108C>A (p.Pro703His) c.2099C>A (p.Pro700His) c.2069C>A (p.Pro690His) c.2012C>A (p.Pro671His) c.1958C>A (p.Pro653His) c.1751C>A (p.Pro584His) c.2165C>A (p.Pro722His) c.2159C>A (p.Pro720His) c.2156C>A (p.Pro719His) c.2216C>A (p.Pro739His) c.2207C>A (p.Pro736His) c.2126C>A (p.Pro709His) c.2075C>A (p.Pro692His) | |
14 | g.33800364C>G | CA389413719 | NPAS3 | c.2057C>G (p.Pro686Arg) c.2066C>G (p.Pro689Arg) c.1957C>G c.793+2783C>G c.1961C>G (p.Pro654Arg) c.2018C>G (p.Pro673Arg) c.1967C>G (p.Pro656Arg) c.2072C>G (p.Pro691Arg) c.1979C>G (p.Pro660Arg) c.2078C>G (p.Pro693Arg) c.2108C>G (p.Pro703Arg) c.2099C>G (p.Pro700Arg) c.2069C>G (p.Pro690Arg) c.2012C>G (p.Pro671Arg) c.1958C>G (p.Pro653Arg) c.1751C>G (p.Pro584Arg) c.2165C>G (p.Pro722Arg) c.2159C>G (p.Pro720Arg) c.2156C>G (p.Pro719Arg) c.2216C>G (p.Pro739Arg) c.2207C>G (p.Pro736Arg) c.2126C>G (p.Pro709Arg) c.2075C>G (p.Pro692Arg) | gnomAD v4 |
14 | g.33800364C>T | CA389413722 | NPAS3 | c.2057C>T (p.Pro686Leu) c.2066C>T (p.Pro689Leu) c.1957C>T c.793+2783C>T c.1961C>T (p.Pro654Leu) c.2018C>T (p.Pro673Leu) c.1967C>T (p.Pro656Leu) c.2072C>T (p.Pro691Leu) c.1979C>T (p.Pro660Leu) c.2078C>T (p.Pro693Leu) c.2108C>T (p.Pro703Leu) c.2099C>T (p.Pro700Leu) c.2069C>T (p.Pro690Leu) c.2012C>T (p.Pro671Leu) c.1958C>T (p.Pro653Leu) c.1751C>T (p.Pro584Leu) c.2165C>T (p.Pro722Leu) c.2159C>T (p.Pro720Leu) c.2156C>T (p.Pro719Leu) c.2216C>T (p.Pro739Leu) c.2207C>T (p.Pro736Leu) c.2126C>T (p.Pro709Leu) c.2075C>T (p.Pro692Leu) | gnomAD v4 |
14 | g.33800365C>A | CA486093052 | NPAS3 | c.2058C>A (p.Pro686=) c.2067C>A (p.Pro689=) c.1958C>A c.793+2784C>A c.1962C>A (p.Pro654=) c.2019C>A (p.Pro673=) c.1968C>A (p.Pro656=) c.2073C>A (p.Pro691=) c.1980C>A (p.Pro660=) c.2079C>A (p.Pro693=) c.2109C>A (p.Pro703=) c.2100C>A (p.Pro700=) c.2070C>A (p.Pro690=) c.2013C>A (p.Pro671=) c.1959C>A (p.Pro653=) c.1752C>A (p.Pro584=) c.2166C>A (p.Pro722=) c.2160C>A (p.Pro720=) c.2157C>A (p.Pro719=) c.2217C>A (p.Pro739=) c.2208C>A (p.Pro736=) c.2127C>A (p.Pro709=) c.2076C>A (p.Pro692=) | dbSNP gnomAD v2 |
14 | g.33800365C= | CA2128327312 | NPAS3 | c.2058C= (p.Pro686=) c.2067C= (p.Pro689=) c.1958C= c.793+2784C= c.1962C= (p.Pro654=) c.2019C= (p.Pro673=) c.1968C= (p.Pro656=) c.2073C= (p.Pro691=) c.1980C= (p.Pro660=) c.2079C= (p.Pro693=) c.2109C= (p.Pro703=) c.2100C= (p.Pro700=) c.2070C= (p.Pro690=) c.2013C= (p.Pro671=) c.1959C= (p.Pro653=) c.1752C= (p.Pro584=) c.2166C= (p.Pro722=) c.2160C= (p.Pro720=) c.2157C= (p.Pro719=) c.2217C= (p.Pro739=) c.2208C= (p.Pro736=) c.2127C= (p.Pro709=) c.2076C= (p.Pro692=) | |
14 | g.33800365C>G | CA486093054 | NPAS3 | c.2058C>G (p.Pro686=) c.2067C>G (p.Pro689=) c.1958C>G c.793+2784C>G c.1962C>G (p.Pro654=) c.2019C>G (p.Pro673=) c.1968C>G (p.Pro656=) c.2073C>G (p.Pro691=) c.1980C>G (p.Pro660=) c.2079C>G (p.Pro693=) c.2109C>G (p.Pro703=) c.2100C>G (p.Pro700=) c.2070C>G (p.Pro690=) c.2013C>G (p.Pro671=) c.1959C>G (p.Pro653=) c.1752C>G (p.Pro584=) c.2166C>G (p.Pro722=) c.2160C>G (p.Pro720=) c.2157C>G (p.Pro719=) c.2217C>G (p.Pro739=) c.2208C>G (p.Pro736=) c.2127C>G (p.Pro709=) c.2076C>G (p.Pro692=) | |
14 | g.33800365C>T | CA486093056 | NPAS3 | c.2058C>T (p.Pro686=) c.2067C>T (p.Pro689=) c.1958C>T c.793+2784C>T c.1962C>T (p.Pro654=) c.2019C>T (p.Pro673=) c.1968C>T (p.Pro656=) c.2073C>T (p.Pro691=) c.1980C>T (p.Pro660=) c.2079C>T (p.Pro693=) c.2109C>T (p.Pro703=) c.2100C>T (p.Pro700=) c.2070C>T (p.Pro690=) c.2013C>T (p.Pro671=) c.1959C>T (p.Pro653=) c.1752C>T (p.Pro584=) c.2166C>T (p.Pro722=) c.2160C>T (p.Pro720=) c.2157C>T (p.Pro719=) c.2217C>T (p.Pro739=) c.2208C>T (p.Pro736=) c.2127C>T (p.Pro709=) c.2076C>T (p.Pro692=) | gnomAD v4 |
14 | g.33800366A>C | CA389413726 | NPAS3 | c.2059A>C (p.Ser687Arg) c.2068A>C (p.Ser690Arg) c.1959A>C c.793+2785A>C c.1963A>C (p.Ser655Arg) c.2020A>C (p.Ser674Arg) c.1969A>C (p.Ser657Arg) c.2074A>C (p.Ser692Arg) c.1981A>C (p.Ser661Arg) c.2080A>C (p.Ser694Arg) c.2110A>C (p.Ser704Arg) c.2101A>C (p.Ser701Arg) c.2071A>C (p.Ser691Arg) c.2014A>C (p.Ser672Arg) c.1960A>C (p.Ser654Arg) c.1753A>C (p.Ser585Arg) c.2167A>C (p.Ser723Arg) c.2161A>C (p.Ser721Arg) c.2158A>C (p.Ser720Arg) c.2218A>C (p.Ser740Arg) c.2209A>C (p.Ser737Arg) c.2128A>C (p.Ser710Arg) c.2077A>C (p.Ser693Arg) | |
14 | g.33800366A>G | CA389413730 | NPAS3 | c.2059A>G (p.Ser687Gly) c.2068A>G (p.Ser690Gly) c.1959A>G c.793+2785A>G c.1963A>G (p.Ser655Gly) c.2020A>G (p.Ser674Gly) c.1969A>G (p.Ser657Gly) c.2074A>G (p.Ser692Gly) c.1981A>G (p.Ser661Gly) c.2080A>G (p.Ser694Gly) c.2110A>G (p.Ser704Gly) c.2101A>G (p.Ser701Gly) c.2071A>G (p.Ser691Gly) c.2014A>G (p.Ser672Gly) c.1960A>G (p.Ser654Gly) c.1753A>G (p.Ser585Gly) c.2167A>G (p.Ser723Gly) c.2161A>G (p.Ser721Gly) c.2158A>G (p.Ser720Gly) c.2218A>G (p.Ser740Gly) c.2209A>G (p.Ser737Gly) c.2128A>G (p.Ser710Gly) c.2077A>G (p.Ser693Gly) | |
14 | g.33800366A>T | CA389413732 | NPAS3 | c.2059A>T (p.Ser687Cys) c.2068A>T (p.Ser690Cys) c.1959A>T c.793+2785A>T c.1963A>T (p.Ser655Cys) c.2020A>T (p.Ser674Cys) c.1969A>T (p.Ser657Cys) c.2074A>T (p.Ser692Cys) c.1981A>T (p.Ser661Cys) c.2080A>T (p.Ser694Cys) c.2110A>T (p.Ser704Cys) c.2101A>T (p.Ser701Cys) c.2071A>T (p.Ser691Cys) c.2014A>T (p.Ser672Cys) c.1960A>T (p.Ser654Cys) c.1753A>T (p.Ser585Cys) c.2167A>T (p.Ser723Cys) c.2161A>T (p.Ser721Cys) c.2158A>T (p.Ser720Cys) c.2218A>T (p.Ser740Cys) c.2209A>T (p.Ser737Cys) c.2128A>T (p.Ser710Cys) c.2077A>T (p.Ser693Cys) | |
14 | g.33800367G>A | CA389413734 | NPAS3 | c.2060G>A (p.Ser687Asn) c.2069G>A (p.Ser690Asn) c.1960G>A c.793+2786G>A c.1964G>A (p.Ser655Asn) c.2021G>A (p.Ser674Asn) c.1970G>A (p.Ser657Asn) c.2075G>A (p.Ser692Asn) c.1982G>A (p.Ser661Asn) c.2081G>A (p.Ser694Asn) c.2111G>A (p.Ser704Asn) c.2102G>A (p.Ser701Asn) c.2072G>A (p.Ser691Asn) c.2015G>A (p.Ser672Asn) c.1961G>A (p.Ser654Asn) c.1754G>A (p.Ser585Asn) c.2168G>A (p.Ser723Asn) c.2162G>A (p.Ser721Asn) c.2159G>A (p.Ser720Asn) c.2219G>A (p.Ser740Asn) c.2210G>A (p.Ser737Asn) c.2129G>A (p.Ser710Asn) c.2078G>A (p.Ser693Asn) | |
14 | g.33800367G>C | CA389413736 | NPAS3 | c.2060G>C (p.Ser687Thr) c.2069G>C (p.Ser690Thr) c.1960G>C c.793+2786G>C c.1964G>C (p.Ser655Thr) c.2021G>C (p.Ser674Thr) c.1970G>C (p.Ser657Thr) c.2075G>C (p.Ser692Thr) c.1982G>C (p.Ser661Thr) c.2081G>C (p.Ser694Thr) c.2111G>C (p.Ser704Thr) c.2102G>C (p.Ser701Thr) c.2072G>C (p.Ser691Thr) c.2015G>C (p.Ser672Thr) c.1961G>C (p.Ser654Thr) c.1754G>C (p.Ser585Thr) c.2168G>C (p.Ser723Thr) c.2162G>C (p.Ser721Thr) c.2159G>C (p.Ser720Thr) c.2219G>C (p.Ser740Thr) c.2210G>C (p.Ser737Thr) c.2129G>C (p.Ser710Thr) c.2078G>C (p.Ser693Thr) | gnomAD v4 |
14 | g.33800367G= | CA2128327314 | NPAS3 | c.2060G= (p.Ser687=) c.2069G= (p.Ser690=) c.1960G= c.793+2786G= c.1964G= (p.Ser655=) c.2021G= (p.Ser674=) c.1970G= (p.Ser657=) c.2075G= (p.Ser692=) c.1982G= (p.Ser661=) c.2081G= (p.Ser694=) c.2111G= (p.Ser704=) c.2102G= (p.Ser701=) c.2072G= (p.Ser691=) c.2015G= (p.Ser672=) c.1961G= (p.Ser654=) c.1754G= (p.Ser585=) c.2168G= (p.Ser723=) c.2162G= (p.Ser721=) c.2159G= (p.Ser720=) c.2219G= (p.Ser740=) c.2210G= (p.Ser737=) c.2129G= (p.Ser710=) c.2078G= (p.Ser693=) | |
14 | g.33800367G>T | CA389413737 | NPAS3 | c.2060G>T (p.Ser687Ile) c.2069G>T (p.Ser690Ile) c.1960G>T c.793+2786G>T c.1964G>T (p.Ser655Ile) c.2021G>T (p.Ser674Ile) c.1970G>T (p.Ser657Ile) c.2075G>T (p.Ser692Ile) c.1982G>T (p.Ser661Ile) c.2081G>T (p.Ser694Ile) c.2111G>T (p.Ser704Ile) c.2102G>T (p.Ser701Ile) c.2072G>T (p.Ser691Ile) c.2015G>T (p.Ser672Ile) c.1961G>T (p.Ser654Ile) c.1754G>T (p.Ser585Ile) c.2168G>T (p.Ser723Ile) c.2162G>T (p.Ser721Ile) c.2159G>T (p.Ser720Ile) c.2219G>T (p.Ser740Ile) c.2210G>T (p.Ser737Ile) c.2129G>T (p.Ser710Ile) c.2078G>T (p.Ser693Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800368C>A | CA389413739 | NPAS3 | c.2061C>A (p.Ser687Arg) c.2070C>A (p.Ser690Arg) c.1961C>A c.793+2787C>A c.1965C>A (p.Ser655Arg) c.2022C>A (p.Ser674Arg) c.1971C>A (p.Ser657Arg) c.2076C>A (p.Ser692Arg) c.1983C>A (p.Ser661Arg) c.2082C>A (p.Ser694Arg) c.2112C>A (p.Ser704Arg) c.2103C>A (p.Ser701Arg) c.2073C>A (p.Ser691Arg) c.2016C>A (p.Ser672Arg) c.1962C>A (p.Ser654Arg) c.1755C>A (p.Ser585Arg) c.2169C>A (p.Ser723Arg) c.2163C>A (p.Ser721Arg) c.2160C>A (p.Ser720Arg) c.2220C>A (p.Ser740Arg) c.2211C>A (p.Ser737Arg) c.2130C>A (p.Ser710Arg) c.2079C>A (p.Ser693Arg) | gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800368C= | CA2128327316 | NPAS3 | c.2061C= (p.Ser687=) c.2070C= (p.Ser690=) c.1961C= c.793+2787C= c.1965C= (p.Ser655=) c.2022C= (p.Ser674=) c.1971C= (p.Ser657=) c.2076C= (p.Ser692=) c.1983C= (p.Ser661=) c.2082C= (p.Ser694=) c.2112C= (p.Ser704=) c.2103C= (p.Ser701=) c.2073C= (p.Ser691=) c.2016C= (p.Ser672=) c.1962C= (p.Ser654=) c.1755C= (p.Ser585=) c.2169C= (p.Ser723=) c.2163C= (p.Ser721=) c.2160C= (p.Ser720=) c.2220C= (p.Ser740=) c.2211C= (p.Ser737=) c.2130C= (p.Ser710=) c.2079C= (p.Ser693=) | |
14 | g.33800368C>G | CA389413740 | NPAS3 | c.2061C>G (p.Ser687Arg) c.2070C>G (p.Ser690Arg) c.1961C>G c.793+2787C>G c.1965C>G (p.Ser655Arg) c.2022C>G (p.Ser674Arg) c.1971C>G (p.Ser657Arg) c.2076C>G (p.Ser692Arg) c.1983C>G (p.Ser661Arg) c.2082C>G (p.Ser694Arg) c.2112C>G (p.Ser704Arg) c.2103C>G (p.Ser701Arg) c.2073C>G (p.Ser691Arg) c.2016C>G (p.Ser672Arg) c.1962C>G (p.Ser654Arg) c.1755C>G (p.Ser585Arg) c.2169C>G (p.Ser723Arg) c.2163C>G (p.Ser721Arg) c.2160C>G (p.Ser720Arg) c.2220C>G (p.Ser740Arg) c.2211C>G (p.Ser737Arg) c.2130C>G (p.Ser710Arg) c.2079C>G (p.Ser693Arg) | |
14 | g.33800368C>T | CA486093058 | NPAS3 | c.2061C>T (p.Ser687=) c.2070C>T (p.Ser690=) c.1961C>T c.793+2787C>T c.1965C>T (p.Ser655=) c.2022C>T (p.Ser674=) c.1971C>T (p.Ser657=) c.2076C>T (p.Ser692=) c.1983C>T (p.Ser661=) c.2082C>T (p.Ser694=) c.2112C>T (p.Ser704=) c.2103C>T (p.Ser701=) c.2073C>T (p.Ser691=) c.2016C>T (p.Ser672=) c.1962C>T (p.Ser654=) c.1755C>T (p.Ser585=) c.2169C>T (p.Ser723=) c.2163C>T (p.Ser721=) c.2160C>T (p.Ser720=) c.2220C>T (p.Ser740=) c.2211C>T (p.Ser737=) c.2130C>T (p.Ser710=) c.2079C>T (p.Ser693=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800369T>A | CA389413743 | NPAS3 | c.2062T>A (p.Ser688Thr) c.2071T>A (p.Ser691Thr) c.1962T>A c.793+2788T>A c.1966T>A (p.Ser656Thr) c.2023T>A (p.Ser675Thr) c.1972T>A (p.Ser658Thr) c.2077T>A (p.Ser693Thr) c.1984T>A (p.Ser662Thr) c.2083T>A (p.Ser695Thr) c.2113T>A (p.Ser705Thr) c.2104T>A (p.Ser702Thr) c.2074T>A (p.Ser692Thr) c.2017T>A (p.Ser673Thr) c.1963T>A (p.Ser655Thr) c.1756T>A (p.Ser586Thr) c.2170T>A (p.Ser724Thr) c.2164T>A (p.Ser722Thr) c.2161T>A (p.Ser721Thr) c.2221T>A (p.Ser741Thr) c.2212T>A (p.Ser738Thr) c.2131T>A (p.Ser711Thr) c.2080T>A (p.Ser694Thr) | |
14 | g.33800369T>C | CA389413744 | NPAS3 | c.2062T>C (p.Ser688Pro) c.2071T>C (p.Ser691Pro) c.1962T>C c.793+2788T>C c.1966T>C (p.Ser656Pro) c.2023T>C (p.Ser675Pro) c.1972T>C (p.Ser658Pro) c.2077T>C (p.Ser693Pro) c.1984T>C (p.Ser662Pro) c.2083T>C (p.Ser695Pro) c.2113T>C (p.Ser705Pro) c.2104T>C (p.Ser702Pro) c.2074T>C (p.Ser692Pro) c.2017T>C (p.Ser673Pro) c.1963T>C (p.Ser655Pro) c.1756T>C (p.Ser586Pro) c.2170T>C (p.Ser724Pro) c.2164T>C (p.Ser722Pro) c.2161T>C (p.Ser721Pro) c.2221T>C (p.Ser741Pro) c.2212T>C (p.Ser738Pro) c.2131T>C (p.Ser711Pro) c.2080T>C (p.Ser694Pro) | |
14 | g.33800369T>G | CA389413745 | NPAS3 | c.2062T>G (p.Ser688Ala) c.2071T>G (p.Ser691Ala) c.1962T>G c.793+2788T>G c.1966T>G (p.Ser656Ala) c.2023T>G (p.Ser675Ala) c.1972T>G (p.Ser658Ala) c.2077T>G (p.Ser693Ala) c.1984T>G (p.Ser662Ala) c.2083T>G (p.Ser695Ala) c.2113T>G (p.Ser705Ala) c.2104T>G (p.Ser702Ala) c.2074T>G (p.Ser692Ala) c.2017T>G (p.Ser673Ala) c.1963T>G (p.Ser655Ala) c.1756T>G (p.Ser586Ala) c.2170T>G (p.Ser724Ala) c.2164T>G (p.Ser722Ala) c.2161T>G (p.Ser721Ala) c.2221T>G (p.Ser741Ala) c.2212T>G (p.Ser738Ala) c.2131T>G (p.Ser711Ala) c.2080T>G (p.Ser694Ala) | |
14 | g.33800370C>A | CA389413748 | NPAS3 | c.2063C>A (p.Ser688Tyr) c.2072C>A (p.Ser691Tyr) c.1963C>A c.793+2789C>A c.1967C>A (p.Ser656Tyr) c.2024C>A (p.Ser675Tyr) c.1973C>A (p.Ser658Tyr) c.2078C>A (p.Ser693Tyr) c.1985C>A (p.Ser662Tyr) c.2084C>A (p.Ser695Tyr) c.2114C>A (p.Ser705Tyr) c.2105C>A (p.Ser702Tyr) c.2075C>A (p.Ser692Tyr) c.2018C>A (p.Ser673Tyr) c.1964C>A (p.Ser655Tyr) c.1757C>A (p.Ser586Tyr) c.2171C>A (p.Ser724Tyr) c.2165C>A (p.Ser722Tyr) c.2162C>A (p.Ser721Tyr) c.2222C>A (p.Ser741Tyr) c.2213C>A (p.Ser738Tyr) c.2132C>A (p.Ser711Tyr) c.2081C>A (p.Ser694Tyr) | |
14 | g.33800370C= | CA2128327318 | NPAS3 | c.2063C= (p.Ser688=) c.2072C= (p.Ser691=) c.1963C= c.793+2789C= c.1967C= (p.Ser656=) c.2024C= (p.Ser675=) c.1973C= (p.Ser658=) c.2078C= (p.Ser693=) c.1985C= (p.Ser662=) c.2084C= (p.Ser695=) c.2114C= (p.Ser705=) c.2105C= (p.Ser702=) c.2075C= (p.Ser692=) c.2018C= (p.Ser673=) c.1964C= (p.Ser655=) c.1757C= (p.Ser586=) c.2171C= (p.Ser724=) c.2165C= (p.Ser722=) c.2162C= (p.Ser721=) c.2222C= (p.Ser741=) c.2213C= (p.Ser738=) c.2132C= (p.Ser711=) c.2081C= (p.Ser694=) | |
14 | g.33800370C>G | CA389413750 | NPAS3 | c.2063C>G (p.Ser688Cys) c.2072C>G (p.Ser691Cys) c.1963C>G c.793+2789C>G c.1967C>G (p.Ser656Cys) c.2024C>G (p.Ser675Cys) c.1973C>G (p.Ser658Cys) c.2078C>G (p.Ser693Cys) c.1985C>G (p.Ser662Cys) c.2084C>G (p.Ser695Cys) c.2114C>G (p.Ser705Cys) c.2105C>G (p.Ser702Cys) c.2075C>G (p.Ser692Cys) c.2018C>G (p.Ser673Cys) c.1964C>G (p.Ser655Cys) c.1757C>G (p.Ser586Cys) c.2171C>G (p.Ser724Cys) c.2165C>G (p.Ser722Cys) c.2162C>G (p.Ser721Cys) c.2222C>G (p.Ser741Cys) c.2213C>G (p.Ser738Cys) c.2132C>G (p.Ser711Cys) c.2081C>G (p.Ser694Cys) | |
14 | g.33800370C>T | CA7150928 | NPAS3 | c.2063C>T (p.Ser688Phe) c.2072C>T (p.Ser691Phe) c.1963C>T c.793+2789C>T c.1967C>T (p.Ser656Phe) c.2024C>T (p.Ser675Phe) c.1973C>T (p.Ser658Phe) c.2078C>T (p.Ser693Phe) c.1985C>T (p.Ser662Phe) c.2084C>T (p.Ser695Phe) c.2114C>T (p.Ser705Phe) c.2105C>T (p.Ser702Phe) c.2075C>T (p.Ser692Phe) c.2018C>T (p.Ser673Phe) c.1964C>T (p.Ser655Phe) c.1757C>T (p.Ser586Phe) c.2171C>T (p.Ser724Phe) c.2165C>T (p.Ser722Phe) c.2162C>T (p.Ser721Phe) c.2222C>T (p.Ser741Phe) c.2213C>T (p.Ser738Phe) c.2132C>T (p.Ser711Phe) c.2081C>T (p.Ser694Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800371T>A | CA486093061 | NPAS3 | c.2064T>A (p.Ser688=) c.2073T>A (p.Ser691=) c.1964T>A c.793+2790T>A c.1968T>A (p.Ser656=) c.2025T>A (p.Ser675=) c.1974T>A (p.Ser658=) c.2079T>A (p.Ser693=) c.1986T>A (p.Ser662=) c.2085T>A (p.Ser695=) c.2115T>A (p.Ser705=) c.2106T>A (p.Ser702=) c.2076T>A (p.Ser692=) c.2019T>A (p.Ser673=) c.1965T>A (p.Ser655=) c.1758T>A (p.Ser586=) c.2172T>A (p.Ser724=) c.2166T>A (p.Ser722=) c.2163T>A (p.Ser721=) c.2223T>A (p.Ser741=) c.2214T>A (p.Ser738=) c.2133T>A (p.Ser711=) c.2082T>A (p.Ser694=) | |
14 | g.33800371T>C | CA486093063 | NPAS3 | c.2064T>C (p.Ser688=) c.2073T>C (p.Ser691=) c.1964T>C c.793+2790T>C c.1968T>C (p.Ser656=) c.2025T>C (p.Ser675=) c.1974T>C (p.Ser658=) c.2079T>C (p.Ser693=) c.1986T>C (p.Ser662=) c.2085T>C (p.Ser695=) c.2115T>C (p.Ser705=) c.2106T>C (p.Ser702=) c.2076T>C (p.Ser692=) c.2019T>C (p.Ser673=) c.1965T>C (p.Ser655=) c.1758T>C (p.Ser586=) c.2172T>C (p.Ser724=) c.2166T>C (p.Ser722=) c.2163T>C (p.Ser721=) c.2223T>C (p.Ser741=) c.2214T>C (p.Ser738=) c.2133T>C (p.Ser711=) c.2082T>C (p.Ser694=) | dbSNP |
14 | g.33800371T>G | CA486093064 | NPAS3 | c.2064T>G (p.Ser688=) c.2073T>G (p.Ser691=) c.1964T>G c.793+2790T>G c.1968T>G (p.Ser656=) c.2025T>G (p.Ser675=) c.1974T>G (p.Ser658=) c.2079T>G (p.Ser693=) c.1986T>G (p.Ser662=) c.2085T>G (p.Ser695=) c.2115T>G (p.Ser705=) c.2106T>G (p.Ser702=) c.2076T>G (p.Ser692=) c.2019T>G (p.Ser673=) c.1965T>G (p.Ser655=) c.1758T>G (p.Ser586=) c.2172T>G (p.Ser724=) c.2166T>G (p.Ser722=) c.2163T>G (p.Ser721=) c.2223T>G (p.Ser741=) c.2214T>G (p.Ser738=) c.2133T>G (p.Ser711=) c.2082T>G (p.Ser694=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800371T= | CA2128327321 | NPAS3 | c.2064T= (p.Ser688=) c.2073T= (p.Ser691=) c.1964T= c.793+2790T= c.1968T= (p.Ser656=) c.2025T= (p.Ser675=) c.1974T= (p.Ser658=) c.2079T= (p.Ser693=) c.1986T= (p.Ser662=) c.2085T= (p.Ser695=) c.2115T= (p.Ser705=) c.2106T= (p.Ser702=) c.2076T= (p.Ser692=) c.2019T= (p.Ser673=) c.1965T= (p.Ser655=) c.1758T= (p.Ser586=) c.2172T= (p.Ser724=) c.2166T= (p.Ser722=) c.2163T= (p.Ser721=) c.2223T= (p.Ser741=) c.2214T= (p.Ser738=) c.2133T= (p.Ser711=) c.2082T= (p.Ser694=) | |
14 | g.33800371_33800372del | CA2575504024 | NPAS3 | c.2064_2065del (p.Glu689AlafsTer?) c.2073_2074del (p.Glu692AlafsTer?) c.1964_1965del c.793+2790_793+2791del c.1968_1969del (p.Glu657AlafsTer?) c.2025_2026del (p.Glu676AlafsTer?) c.1974_1975del (p.Glu659AlafsTer?) c.2079_2080del (p.Glu694AlafsTer?) c.1986_1987del (p.Glu663AlafsTer?) c.2085_2086del (p.Glu696AlafsTer?) c.2115_2116del (p.Glu706AlafsTer?) c.2106_2107del (p.Glu703AlafsTer?) c.2076_2077del (p.Glu693AlafsTer?) c.2019_2020del (p.Glu674AlafsTer?) c.1965_1966del (p.Glu656AlafsTer?) c.1758_1759del (p.Glu587AlafsTer?) c.2172_2173del (p.Glu725AlafsTer?) c.2166_2167del (p.Glu723AlafsTer?) c.2163_2164del (p.Glu722AlafsTer?) c.2223_2224del (p.Glu742AlafsTer?) c.2214_2215del (p.Glu739AlafsTer?) c.2133_2134del (p.Glu712AlafsTer?) c.2082_2083del (p.Glu695AlafsTer?) | |
14 | g.33800372G>A | CA389413752 | NPAS3 | c.2065G>A (p.Glu689Lys) c.2074G>A (p.Glu692Lys) c.1965G>A c.793+2791G>A c.1969G>A (p.Glu657Lys) c.2026G>A (p.Glu676Lys) c.1975G>A (p.Glu659Lys) c.2080G>A (p.Glu694Lys) c.1987G>A (p.Glu663Lys) c.2086G>A (p.Glu696Lys) c.2116G>A (p.Glu706Lys) c.2107G>A (p.Glu703Lys) c.2077G>A (p.Glu693Lys) c.2020G>A (p.Glu674Lys) c.1966G>A (p.Glu656Lys) c.1759G>A (p.Glu587Lys) c.2173G>A (p.Glu725Lys) c.2167G>A (p.Glu723Lys) c.2164G>A (p.Glu722Lys) c.2224G>A (p.Glu742Lys) c.2215G>A (p.Glu739Lys) c.2134G>A (p.Glu712Lys) c.2083G>A (p.Glu695Lys) | |
14 | g.33800372G>C | CA389413754 | NPAS3 | c.2065G>C (p.Glu689Gln) c.2074G>C (p.Glu692Gln) c.1965G>C c.793+2791G>C c.1969G>C (p.Glu657Gln) c.2026G>C (p.Glu676Gln) c.1975G>C (p.Glu659Gln) c.2080G>C (p.Glu694Gln) c.1987G>C (p.Glu663Gln) c.2086G>C (p.Glu696Gln) c.2116G>C (p.Glu706Gln) c.2107G>C (p.Glu703Gln) c.2077G>C (p.Glu693Gln) c.2020G>C (p.Glu674Gln) c.1966G>C (p.Glu656Gln) c.1759G>C (p.Glu587Gln) c.2173G>C (p.Glu725Gln) c.2167G>C (p.Glu723Gln) c.2164G>C (p.Glu722Gln) c.2224G>C (p.Glu742Gln) c.2215G>C (p.Glu739Gln) c.2134G>C (p.Glu712Gln) c.2083G>C (p.Glu695Gln) | |
14 | g.33800372G>T | CA389413755 | NPAS3 | c.2065G>T (p.Glu689Ter) c.2074G>T (p.Glu692Ter) c.1965G>T c.793+2791G>T c.1969G>T (p.Glu657Ter) c.2026G>T (p.Glu676Ter) c.1975G>T (p.Glu659Ter) c.2080G>T (p.Glu694Ter) c.1987G>T (p.Glu663Ter) c.2086G>T (p.Glu696Ter) c.2116G>T (p.Glu706Ter) c.2107G>T (p.Glu703Ter) c.2077G>T (p.Glu693Ter) c.2020G>T (p.Glu674Ter) c.1966G>T (p.Glu656Ter) c.1759G>T (p.Glu587Ter) c.2173G>T (p.Glu725Ter) c.2167G>T (p.Glu723Ter) c.2164G>T (p.Glu722Ter) c.2224G>T (p.Glu742Ter) c.2215G>T (p.Glu739Ter) c.2134G>T (p.Glu712Ter) c.2083G>T (p.Glu695Ter) | |
14 | g.33800373A>C | CA389413757 | NPAS3 | c.2066A>C (p.Glu689Ala) c.2075A>C (p.Glu692Ala) c.1966A>C c.793+2792A>C c.1970A>C (p.Glu657Ala) c.2027A>C (p.Glu676Ala) c.1976A>C (p.Glu659Ala) c.2081A>C (p.Glu694Ala) c.1988A>C (p.Glu663Ala) c.2087A>C (p.Glu696Ala) c.2117A>C (p.Glu706Ala) c.2108A>C (p.Glu703Ala) c.2078A>C (p.Glu693Ala) c.2021A>C (p.Glu674Ala) c.1967A>C (p.Glu656Ala) c.1760A>C (p.Glu587Ala) c.2174A>C (p.Glu725Ala) c.2168A>C (p.Glu723Ala) c.2165A>C (p.Glu722Ala) c.2225A>C (p.Glu742Ala) c.2216A>C (p.Glu739Ala) c.2135A>C (p.Glu712Ala) c.2084A>C (p.Glu695Ala) | gnomAD v4 |
14 | g.33800373A>G | CA389413759 | NPAS3 | c.2066A>G (p.Glu689Gly) c.2075A>G (p.Glu692Gly) c.1966A>G c.793+2792A>G c.1970A>G (p.Glu657Gly) c.2027A>G (p.Glu676Gly) c.1976A>G (p.Glu659Gly) c.2081A>G (p.Glu694Gly) c.1988A>G (p.Glu663Gly) c.2087A>G (p.Glu696Gly) c.2117A>G (p.Glu706Gly) c.2108A>G (p.Glu703Gly) c.2078A>G (p.Glu693Gly) c.2021A>G (p.Glu674Gly) c.1967A>G (p.Glu656Gly) c.1760A>G (p.Glu587Gly) c.2174A>G (p.Glu725Gly) c.2168A>G (p.Glu723Gly) c.2165A>G (p.Glu722Gly) c.2225A>G (p.Glu742Gly) c.2216A>G (p.Glu739Gly) c.2135A>G (p.Glu712Gly) c.2084A>G (p.Glu695Gly) | |
14 | g.33800373A>T | CA389413761 | NPAS3 | c.2066A>T (p.Glu689Val) c.2075A>T (p.Glu692Val) c.1966A>T c.793+2792A>T c.1970A>T (p.Glu657Val) c.2027A>T (p.Glu676Val) c.1976A>T (p.Glu659Val) c.2081A>T (p.Glu694Val) c.1988A>T (p.Glu663Val) c.2087A>T (p.Glu696Val) c.2117A>T (p.Glu706Val) c.2108A>T (p.Glu703Val) c.2078A>T (p.Glu693Val) c.2021A>T (p.Glu674Val) c.1967A>T (p.Glu656Val) c.1760A>T (p.Glu587Val) c.2174A>T (p.Glu725Val) c.2168A>T (p.Glu723Val) c.2165A>T (p.Glu722Val) c.2225A>T (p.Glu742Val) c.2216A>T (p.Glu739Val) c.2135A>T (p.Glu712Val) c.2084A>T (p.Glu695Val) | |
14 | g.33800374G>A | CA486093065 | NPAS3 | c.2067G>A (p.Glu689=) c.2076G>A (p.Glu692=) c.1967G>A c.793+2793G>A c.1971G>A (p.Glu657=) c.2028G>A (p.Glu676=) c.1977G>A (p.Glu659=) c.2082G>A (p.Glu694=) c.1989G>A (p.Glu663=) c.2088G>A (p.Glu696=) c.2118G>A (p.Glu706=) c.2109G>A (p.Glu703=) c.2079G>A (p.Glu693=) c.2022G>A (p.Glu674=) c.1968G>A (p.Glu656=) c.1761G>A (p.Glu587=) c.2175G>A (p.Glu725=) c.2169G>A (p.Glu723=) c.2166G>A (p.Glu722=) c.2226G>A (p.Glu742=) c.2217G>A (p.Glu739=) c.2136G>A (p.Glu712=) c.2085G>A (p.Glu695=) | dbSNP |
14 | g.33800374G>C | CA389413763 | NPAS3 | c.2067G>C (p.Glu689Asp) c.2076G>C (p.Glu692Asp) c.1967G>C c.793+2793G>C c.1971G>C (p.Glu657Asp) c.2028G>C (p.Glu676Asp) c.1977G>C (p.Glu659Asp) c.2082G>C (p.Glu694Asp) c.1989G>C (p.Glu663Asp) c.2088G>C (p.Glu696Asp) c.2118G>C (p.Glu706Asp) c.2109G>C (p.Glu703Asp) c.2079G>C (p.Glu693Asp) c.2022G>C (p.Glu674Asp) c.1968G>C (p.Glu656Asp) c.1761G>C (p.Glu587Asp) c.2175G>C (p.Glu725Asp) c.2169G>C (p.Glu723Asp) c.2166G>C (p.Glu722Asp) c.2226G>C (p.Glu742Asp) c.2217G>C (p.Glu739Asp) c.2136G>C (p.Glu712Asp) c.2085G>C (p.Glu695Asp) | |
14 | g.33800374G= | CA2128327324 | NPAS3 | c.2067G= (p.Glu689=) c.2076G= (p.Glu692=) c.1967G= c.793+2793G= c.1971G= (p.Glu657=) c.2028G= (p.Glu676=) c.1977G= (p.Glu659=) c.2082G= (p.Glu694=) c.1989G= (p.Glu663=) c.2088G= (p.Glu696=) c.2118G= (p.Glu706=) c.2109G= (p.Glu703=) c.2079G= (p.Glu693=) c.2022G= (p.Glu674=) c.1968G= (p.Glu656=) c.1761G= (p.Glu587=) c.2175G= (p.Glu725=) c.2169G= (p.Glu723=) c.2166G= (p.Glu722=) c.2226G= (p.Glu742=) c.2217G= (p.Glu739=) c.2136G= (p.Glu712=) c.2085G= (p.Glu695=) | |
14 | g.33800374G>T | CA389413765 | NPAS3 | c.2067G>T (p.Glu689Asp) c.2076G>T (p.Glu692Asp) c.1967G>T c.793+2793G>T c.1971G>T (p.Glu657Asp) c.2028G>T (p.Glu676Asp) c.1977G>T (p.Glu659Asp) c.2082G>T (p.Glu694Asp) c.1989G>T (p.Glu663Asp) c.2088G>T (p.Glu696Asp) c.2118G>T (p.Glu706Asp) c.2109G>T (p.Glu703Asp) c.2079G>T (p.Glu693Asp) c.2022G>T (p.Glu674Asp) c.1968G>T (p.Glu656Asp) c.1761G>T (p.Glu587Asp) c.2175G>T (p.Glu725Asp) c.2169G>T (p.Glu723Asp) c.2166G>T (p.Glu722Asp) c.2226G>T (p.Glu742Asp) c.2217G>T (p.Glu739Asp) c.2136G>T (p.Glu712Asp) c.2085G>T (p.Glu695Asp) | |
14 | g.33800375C>A | CA389413767 | NPAS3 | c.2068C>A (p.His690Asn) c.2077C>A (p.His693Asn) c.1968C>A c.793+2794C>A c.1972C>A (p.His658Asn) c.2029C>A (p.His677Asn) c.1978C>A (p.His660Asn) c.2083C>A (p.His695Asn) c.1990C>A (p.His664Asn) c.2089C>A (p.His697Asn) c.2119C>A (p.His707Asn) c.2110C>A (p.His704Asn) c.2080C>A (p.His694Asn) c.2023C>A (p.His675Asn) c.1969C>A (p.His657Asn) c.1762C>A (p.His588Asn) c.2176C>A (p.His726Asn) c.2170C>A (p.His724Asn) c.2167C>A (p.His723Asn) c.2227C>A (p.His743Asn) c.2218C>A (p.His740Asn) c.2137C>A (p.His713Asn) c.2086C>A (p.His696Asn) | |
14 | g.33800375C>G | CA389413768 | NPAS3 | c.2068C>G (p.His690Asp) c.2077C>G (p.His693Asp) c.1968C>G c.793+2794C>G c.1972C>G (p.His658Asp) c.2029C>G (p.His677Asp) c.1978C>G (p.His660Asp) c.2083C>G (p.His695Asp) c.1990C>G (p.His664Asp) c.2089C>G (p.His697Asp) c.2119C>G (p.His707Asp) c.2110C>G (p.His704Asp) c.2080C>G (p.His694Asp) c.2023C>G (p.His675Asp) c.1969C>G (p.His657Asp) c.1762C>G (p.His588Asp) c.2176C>G (p.His726Asp) c.2170C>G (p.His724Asp) c.2167C>G (p.His723Asp) c.2227C>G (p.His743Asp) c.2218C>G (p.His740Asp) c.2137C>G (p.His713Asp) c.2086C>G (p.His696Asp) | |
14 | g.33800375C>T | CA389413769 | NPAS3 | c.2068C>T (p.His690Tyr) c.2077C>T (p.His693Tyr) c.1968C>T c.793+2794C>T c.1972C>T (p.His658Tyr) c.2029C>T (p.His677Tyr) c.1978C>T (p.His660Tyr) c.2083C>T (p.His695Tyr) c.1990C>T (p.His664Tyr) c.2089C>T (p.His697Tyr) c.2119C>T (p.His707Tyr) c.2110C>T (p.His704Tyr) c.2080C>T (p.His694Tyr) c.2023C>T (p.His675Tyr) c.1969C>T (p.His657Tyr) c.1762C>T (p.His588Tyr) c.2176C>T (p.His726Tyr) c.2170C>T (p.His724Tyr) c.2167C>T (p.His723Tyr) c.2227C>T (p.His743Tyr) c.2218C>T (p.His740Tyr) c.2137C>T (p.His713Tyr) c.2086C>T (p.His696Tyr) | |
14 | g.33800376A= | CA2128327327 | NPAS3 | c.2069A= (p.His690=) c.2078A= (p.His693=) c.1969A= c.793+2795A= c.1973A= (p.His658=) c.2030A= (p.His677=) c.1979A= (p.His660=) c.2084A= (p.His695=) c.1991A= (p.His664=) c.2090A= (p.His697=) c.2120A= (p.His707=) c.2111A= (p.His704=) c.2081A= (p.His694=) c.2024A= (p.His675=) c.1970A= (p.His657=) c.1763A= (p.His588=) c.2177A= (p.His726=) c.2171A= (p.His724=) c.2168A= (p.His723=) c.2228A= (p.His743=) c.2219A= (p.His740=) c.2138A= (p.His713=) c.2087A= (p.His696=) | |
14 | g.33800376A>C | CA389413771 | NPAS3 | c.2069A>C (p.His690Pro) c.2078A>C (p.His693Pro) c.1969A>C c.793+2795A>C c.1973A>C (p.His658Pro) c.2030A>C (p.His677Pro) c.1979A>C (p.His660Pro) c.2084A>C (p.His695Pro) c.1991A>C (p.His664Pro) c.2090A>C (p.His697Pro) c.2120A>C (p.His707Pro) c.2111A>C (p.His704Pro) c.2081A>C (p.His694Pro) c.2024A>C (p.His675Pro) c.1970A>C (p.His657Pro) c.1763A>C (p.His588Pro) c.2177A>C (p.His726Pro) c.2171A>C (p.His724Pro) c.2168A>C (p.His723Pro) c.2228A>C (p.His743Pro) c.2219A>C (p.His740Pro) c.2138A>C (p.His713Pro) c.2087A>C (p.His696Pro) | |
14 | g.33800376A>G | CA389413773 | NPAS3 | c.2069A>G (p.His690Arg) c.2078A>G (p.His693Arg) c.1969A>G c.793+2795A>G c.1973A>G (p.His658Arg) c.2030A>G (p.His677Arg) c.1979A>G (p.His660Arg) c.2084A>G (p.His695Arg) c.1991A>G (p.His664Arg) c.2090A>G (p.His697Arg) c.2120A>G (p.His707Arg) c.2111A>G (p.His704Arg) c.2081A>G (p.His694Arg) c.2024A>G (p.His675Arg) c.1970A>G (p.His657Arg) c.1763A>G (p.His588Arg) c.2177A>G (p.His726Arg) c.2171A>G (p.His724Arg) c.2168A>G (p.His723Arg) c.2228A>G (p.His743Arg) c.2219A>G (p.His740Arg) c.2138A>G (p.His713Arg) c.2087A>G (p.His696Arg) | dbSNP |
14 | g.33800376A>T | CA389413775 | NPAS3 | c.2069A>T (p.His690Leu) c.2078A>T (p.His693Leu) c.1969A>T c.793+2795A>T c.1973A>T (p.His658Leu) c.2030A>T (p.His677Leu) c.1979A>T (p.His660Leu) c.2084A>T (p.His695Leu) c.1991A>T (p.His664Leu) c.2090A>T (p.His697Leu) c.2120A>T (p.His707Leu) c.2111A>T (p.His704Leu) c.2081A>T (p.His694Leu) c.2024A>T (p.His675Leu) c.1970A>T (p.His657Leu) c.1763A>T (p.His588Leu) c.2177A>T (p.His726Leu) c.2171A>T (p.His724Leu) c.2168A>T (p.His723Leu) c.2228A>T (p.His743Leu) c.2219A>T (p.His740Leu) c.2138A>T (p.His713Leu) c.2087A>T (p.His696Leu) | |
14 | g.33800377C>A | CA7150929 | NPAS3 | c.2070C>A (p.His690Gln) c.2079C>A (p.His693Gln) c.1970C>A c.793+2796C>A c.1974C>A (p.His658Gln) c.2031C>A (p.His677Gln) c.1980C>A (p.His660Gln) c.2085C>A (p.His695Gln) c.1992C>A (p.His664Gln) c.2091C>A (p.His697Gln) c.2121C>A (p.His707Gln) c.2112C>A (p.His704Gln) c.2082C>A (p.His694Gln) c.2025C>A (p.His675Gln) c.1971C>A (p.His657Gln) c.1764C>A (p.His588Gln) c.2178C>A (p.His726Gln) c.2172C>A (p.His724Gln) c.2169C>A (p.His723Gln) c.2229C>A (p.His743Gln) c.2220C>A (p.His740Gln) c.2139C>A (p.His713Gln) c.2088C>A (p.His696Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800377C= | CA2128327332 | NPAS3 | c.2070C= (p.His690=) c.2079C= (p.His693=) c.1970C= c.793+2796C= c.1974C= (p.His658=) c.2031C= (p.His677=) c.1980C= (p.His660=) c.2085C= (p.His695=) c.1992C= (p.His664=) c.2091C= (p.His697=) c.2121C= (p.His707=) c.2112C= (p.His704=) c.2082C= (p.His694=) c.2025C= (p.His675=) c.1971C= (p.His657=) c.1764C= (p.His588=) c.2178C= (p.His726=) c.2172C= (p.His724=) c.2169C= (p.His723=) c.2229C= (p.His743=) c.2220C= (p.His740=) c.2139C= (p.His713=) c.2088C= (p.His696=) | |
14 | g.33800377C>G | CA389413780 | NPAS3 | c.2070C>G (p.His690Gln) c.2079C>G (p.His693Gln) c.1970C>G c.793+2796C>G c.1974C>G (p.His658Gln) c.2031C>G (p.His677Gln) c.1980C>G (p.His660Gln) c.2085C>G (p.His695Gln) c.1992C>G (p.His664Gln) c.2091C>G (p.His697Gln) c.2121C>G (p.His707Gln) c.2112C>G (p.His704Gln) c.2082C>G (p.His694Gln) c.2025C>G (p.His675Gln) c.1971C>G (p.His657Gln) c.1764C>G (p.His588Gln) c.2178C>G (p.His726Gln) c.2172C>G (p.His724Gln) c.2169C>G (p.His723Gln) c.2229C>G (p.His743Gln) c.2220C>G (p.His740Gln) c.2139C>G (p.His713Gln) c.2088C>G (p.His696Gln) | |
14 | g.33800377C>T | CA486093069 | NPAS3 | c.2070C>T (p.His690=) c.2079C>T (p.His693=) c.1970C>T c.793+2796C>T c.1974C>T (p.His658=) c.2031C>T (p.His677=) c.1980C>T (p.His660=) c.2085C>T (p.His695=) c.1992C>T (p.His664=) c.2091C>T (p.His697=) c.2121C>T (p.His707=) c.2112C>T (p.His704=) c.2082C>T (p.His694=) c.2025C>T (p.His675=) c.1971C>T (p.His657=) c.1764C>T (p.His588=) c.2178C>T (p.His726=) c.2172C>T (p.His724=) c.2169C>T (p.His723=) c.2229C>T (p.His743=) c.2220C>T (p.His740=) c.2139C>T (p.His713=) c.2088C>T (p.His696=) | |
14 | g.33800378T>A | CA389413784 | NPAS3 | c.2071T>A (p.Phe691Ile) c.2080T>A (p.Phe694Ile) c.1971T>A c.793+2797T>A c.1975T>A (p.Phe659Ile) c.2032T>A (p.Phe678Ile) c.1981T>A (p.Phe661Ile) c.2086T>A (p.Phe696Ile) c.1993T>A (p.Phe665Ile) c.2092T>A (p.Phe698Ile) c.2122T>A (p.Phe708Ile) c.2113T>A (p.Phe705Ile) c.2083T>A (p.Phe695Ile) c.2026T>A (p.Phe676Ile) c.1972T>A (p.Phe658Ile) c.1765T>A (p.Phe589Ile) c.2179T>A (p.Phe727Ile) c.2173T>A (p.Phe725Ile) c.2170T>A (p.Phe724Ile) c.2230T>A (p.Phe744Ile) c.2221T>A (p.Phe741Ile) c.2140T>A (p.Phe714Ile) c.2089T>A (p.Phe697Ile) | |
14 | g.33800378T>C | CA389413787 | NPAS3 | c.2071T>C (p.Phe691Leu) c.2080T>C (p.Phe694Leu) c.1971T>C c.793+2797T>C c.1975T>C (p.Phe659Leu) c.2032T>C (p.Phe678Leu) c.1981T>C (p.Phe661Leu) c.2086T>C (p.Phe696Leu) c.1993T>C (p.Phe665Leu) c.2092T>C (p.Phe698Leu) c.2122T>C (p.Phe708Leu) c.2113T>C (p.Phe705Leu) c.2083T>C (p.Phe695Leu) c.2026T>C (p.Phe676Leu) c.1972T>C (p.Phe658Leu) c.1765T>C (p.Phe589Leu) c.2179T>C (p.Phe727Leu) c.2173T>C (p.Phe725Leu) c.2170T>C (p.Phe724Leu) c.2230T>C (p.Phe744Leu) c.2221T>C (p.Phe741Leu) c.2140T>C (p.Phe714Leu) c.2089T>C (p.Phe697Leu) | |
14 | g.33800378T>G | CA389413785 | NPAS3 | c.2071T>G (p.Phe691Val) c.2080T>G (p.Phe694Val) c.1971T>G c.793+2797T>G c.1975T>G (p.Phe659Val) c.2032T>G (p.Phe678Val) c.1981T>G (p.Phe661Val) c.2086T>G (p.Phe696Val) c.1993T>G (p.Phe665Val) c.2092T>G (p.Phe698Val) c.2122T>G (p.Phe708Val) c.2113T>G (p.Phe705Val) c.2083T>G (p.Phe695Val) c.2026T>G (p.Phe676Val) c.1972T>G (p.Phe658Val) c.1765T>G (p.Phe589Val) c.2179T>G (p.Phe727Val) c.2173T>G (p.Phe725Val) c.2170T>G (p.Phe724Val) c.2230T>G (p.Phe744Val) c.2221T>G (p.Phe741Val) c.2140T>G (p.Phe714Val) c.2089T>G (p.Phe697Val) | |
14 | g.33800379T>A | CA389413790 | NPAS3 | c.2072T>A (p.Phe691Tyr) c.2081T>A (p.Phe694Tyr) c.1972T>A c.793+2798T>A c.1976T>A (p.Phe659Tyr) c.2033T>A (p.Phe678Tyr) c.1982T>A (p.Phe661Tyr) c.2087T>A (p.Phe696Tyr) c.1994T>A (p.Phe665Tyr) c.2093T>A (p.Phe698Tyr) c.2123T>A (p.Phe708Tyr) c.2114T>A (p.Phe705Tyr) c.2084T>A (p.Phe695Tyr) c.2027T>A (p.Phe676Tyr) c.1973T>A (p.Phe658Tyr) c.1766T>A (p.Phe589Tyr) c.2180T>A (p.Phe727Tyr) c.2174T>A (p.Phe725Tyr) c.2171T>A (p.Phe724Tyr) c.2231T>A (p.Phe744Tyr) c.2222T>A (p.Phe741Tyr) c.2141T>A (p.Phe714Tyr) c.2090T>A (p.Phe697Tyr) | |
14 | g.33800379T>C | CA389413792 | NPAS3 | c.2072T>C (p.Phe691Ser) c.2081T>C (p.Phe694Ser) c.1972T>C c.793+2798T>C c.1976T>C (p.Phe659Ser) c.2033T>C (p.Phe678Ser) c.1982T>C (p.Phe661Ser) c.2087T>C (p.Phe696Ser) c.1994T>C (p.Phe665Ser) c.2093T>C (p.Phe698Ser) c.2123T>C (p.Phe708Ser) c.2114T>C (p.Phe705Ser) c.2084T>C (p.Phe695Ser) c.2027T>C (p.Phe676Ser) c.1973T>C (p.Phe658Ser) c.1766T>C (p.Phe589Ser) c.2180T>C (p.Phe727Ser) c.2174T>C (p.Phe725Ser) c.2171T>C (p.Phe724Ser) c.2231T>C (p.Phe744Ser) c.2222T>C (p.Phe741Ser) c.2141T>C (p.Phe714Ser) c.2090T>C (p.Phe697Ser) | |
14 | g.33800379T>G | CA389413794 | NPAS3 | c.2072T>G (p.Phe691Cys) c.2081T>G (p.Phe694Cys) c.1972T>G c.793+2798T>G c.1976T>G (p.Phe659Cys) c.2033T>G (p.Phe678Cys) c.1982T>G (p.Phe661Cys) c.2087T>G (p.Phe696Cys) c.1994T>G (p.Phe665Cys) c.2093T>G (p.Phe698Cys) c.2123T>G (p.Phe708Cys) c.2114T>G (p.Phe705Cys) c.2084T>G (p.Phe695Cys) c.2027T>G (p.Phe676Cys) c.1973T>G (p.Phe658Cys) c.1766T>G (p.Phe589Cys) c.2180T>G (p.Phe727Cys) c.2174T>G (p.Phe725Cys) c.2171T>G (p.Phe724Cys) c.2231T>G (p.Phe744Cys) c.2222T>G (p.Phe741Cys) c.2141T>G (p.Phe714Cys) c.2090T>G (p.Phe697Cys) | gnomAD v4 |
14 | g.33800380C>A | CA389413796 | NPAS3 | c.2073C>A (p.Phe691Leu) c.2082C>A (p.Phe694Leu) c.1973C>A c.793+2799C>A c.1977C>A (p.Phe659Leu) c.2034C>A (p.Phe678Leu) c.1983C>A (p.Phe661Leu) c.2088C>A (p.Phe696Leu) c.1995C>A (p.Phe665Leu) c.2094C>A (p.Phe698Leu) c.2124C>A (p.Phe708Leu) c.2115C>A (p.Phe705Leu) c.2085C>A (p.Phe695Leu) c.2028C>A (p.Phe676Leu) c.1974C>A (p.Phe658Leu) c.1767C>A (p.Phe589Leu) c.2181C>A (p.Phe727Leu) c.2175C>A (p.Phe725Leu) c.2172C>A (p.Phe724Leu) c.2232C>A (p.Phe744Leu) c.2223C>A (p.Phe741Leu) c.2142C>A (p.Phe714Leu) c.2091C>A (p.Phe697Leu) | gnomAD v4 |
14 | g.33800380C>G | CA389413798 | NPAS3 | c.2073C>G (p.Phe691Leu) c.2082C>G (p.Phe694Leu) c.1973C>G c.793+2799C>G c.1977C>G (p.Phe659Leu) c.2034C>G (p.Phe678Leu) c.1983C>G (p.Phe661Leu) c.2088C>G (p.Phe696Leu) c.1995C>G (p.Phe665Leu) c.2094C>G (p.Phe698Leu) c.2124C>G (p.Phe708Leu) c.2115C>G (p.Phe705Leu) c.2085C>G (p.Phe695Leu) c.2028C>G (p.Phe676Leu) c.1974C>G (p.Phe658Leu) c.1767C>G (p.Phe589Leu) c.2181C>G (p.Phe727Leu) c.2175C>G (p.Phe725Leu) c.2172C>G (p.Phe724Leu) c.2232C>G (p.Phe744Leu) c.2223C>G (p.Phe741Leu) c.2142C>G (p.Phe714Leu) c.2091C>G (p.Phe697Leu) | |
14 | g.33800380C>T | CA486093073 | NPAS3 | c.2073C>T (p.Phe691=) c.2082C>T (p.Phe694=) c.1973C>T c.793+2799C>T c.1977C>T (p.Phe659=) c.2034C>T (p.Phe678=) c.1983C>T (p.Phe661=) c.2088C>T (p.Phe696=) c.1995C>T (p.Phe665=) c.2094C>T (p.Phe698=) c.2124C>T (p.Phe708=) c.2115C>T (p.Phe705=) c.2085C>T (p.Phe695=) c.2028C>T (p.Phe676=) c.1974C>T (p.Phe658=) c.1767C>T (p.Phe589=) c.2181C>T (p.Phe727=) c.2175C>T (p.Phe725=) c.2172C>T (p.Phe724=) c.2232C>T (p.Phe744=) c.2223C>T (p.Phe741=) c.2142C>T (p.Phe714=) c.2091C>T (p.Phe697=) | gnomAD v4 |
14 | g.33800381C>A | CA7150930 | NPAS3 | c.2074C>A (p.Pro692Thr) c.2083C>A (p.Pro695Thr) c.1974C>A c.793+2800C>A c.1978C>A (p.Pro660Thr) c.2035C>A (p.Pro679Thr) c.1984C>A (p.Pro662Thr) c.2089C>A (p.Pro697Thr) c.1996C>A (p.Pro666Thr) c.2095C>A (p.Pro699Thr) c.2125C>A (p.Pro709Thr) c.2116C>A (p.Pro706Thr) c.2086C>A (p.Pro696Thr) c.2029C>A (p.Pro677Thr) c.1975C>A (p.Pro659Thr) c.1768C>A (p.Pro590Thr) c.2182C>A (p.Pro728Thr) c.2176C>A (p.Pro726Thr) c.2173C>A (p.Pro725Thr) c.2233C>A (p.Pro745Thr) c.2224C>A (p.Pro742Thr) c.2143C>A (p.Pro715Thr) c.2092C>A (p.Pro698Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800381C= | CA2128327338 | NPAS3 | c.2074C= (p.Pro692=) c.2083C= (p.Pro695=) c.1974C= c.793+2800C= c.1978C= (p.Pro660=) c.2035C= (p.Pro679=) c.1984C= (p.Pro662=) c.2089C= (p.Pro697=) c.1996C= (p.Pro666=) c.2095C= (p.Pro699=) c.2125C= (p.Pro709=) c.2116C= (p.Pro706=) c.2086C= (p.Pro696=) c.2029C= (p.Pro677=) c.1975C= (p.Pro659=) c.1768C= (p.Pro590=) c.2182C= (p.Pro728=) c.2176C= (p.Pro726=) c.2173C= (p.Pro725=) c.2233C= (p.Pro745=) c.2224C= (p.Pro742=) c.2143C= (p.Pro715=) c.2092C= (p.Pro698=) | |
14 | g.33800381C>G | CA389413801 | NPAS3 | c.2074C>G (p.Pro692Ala) c.2083C>G (p.Pro695Ala) c.1974C>G c.793+2800C>G c.1978C>G (p.Pro660Ala) c.2035C>G (p.Pro679Ala) c.1984C>G (p.Pro662Ala) c.2089C>G (p.Pro697Ala) c.1996C>G (p.Pro666Ala) c.2095C>G (p.Pro699Ala) c.2125C>G (p.Pro709Ala) c.2116C>G (p.Pro706Ala) c.2086C>G (p.Pro696Ala) c.2029C>G (p.Pro677Ala) c.1975C>G (p.Pro659Ala) c.1768C>G (p.Pro590Ala) c.2182C>G (p.Pro728Ala) c.2176C>G (p.Pro726Ala) c.2173C>G (p.Pro725Ala) c.2233C>G (p.Pro745Ala) c.2224C>G (p.Pro742Ala) c.2143C>G (p.Pro715Ala) c.2092C>G (p.Pro698Ala) | gnomAD v4 |
14 | g.33800381C>T | CA389413803 | NPAS3 | c.2074C>T (p.Pro692Ser) c.2083C>T (p.Pro695Ser) c.1974C>T c.793+2800C>T c.1978C>T (p.Pro660Ser) c.2035C>T (p.Pro679Ser) c.1984C>T (p.Pro662Ser) c.2089C>T (p.Pro697Ser) c.1996C>T (p.Pro666Ser) c.2095C>T (p.Pro699Ser) c.2125C>T (p.Pro709Ser) c.2116C>T (p.Pro706Ser) c.2086C>T (p.Pro696Ser) c.2029C>T (p.Pro677Ser) c.1975C>T (p.Pro659Ser) c.1768C>T (p.Pro590Ser) c.2182C>T (p.Pro728Ser) c.2176C>T (p.Pro726Ser) c.2173C>T (p.Pro725Ser) c.2233C>T (p.Pro745Ser) c.2224C>T (p.Pro742Ser) c.2143C>T (p.Pro715Ser) c.2092C>T (p.Pro698Ser) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800382C>A | CA389413805 | NPAS3 | c.2075C>A (p.Pro692Gln) c.2084C>A (p.Pro695Gln) c.1975C>A c.793+2801C>A c.1979C>A (p.Pro660Gln) c.2036C>A (p.Pro679Gln) c.1985C>A (p.Pro662Gln) c.2090C>A (p.Pro697Gln) c.1997C>A (p.Pro666Gln) c.2096C>A (p.Pro699Gln) c.2126C>A (p.Pro709Gln) c.2117C>A (p.Pro706Gln) c.2087C>A (p.Pro696Gln) c.2030C>A (p.Pro677Gln) c.1976C>A (p.Pro659Gln) c.1769C>A (p.Pro590Gln) c.2183C>A (p.Pro728Gln) c.2177C>A (p.Pro726Gln) c.2174C>A (p.Pro725Gln) c.2234C>A (p.Pro745Gln) c.2225C>A (p.Pro742Gln) c.2144C>A (p.Pro715Gln) c.2093C>A (p.Pro698Gln) | |
14 | g.33800382C= | CA2128327341 | NPAS3 | c.2075C= (p.Pro692=) c.2084C= (p.Pro695=) c.1975C= c.793+2801C= c.1979C= (p.Pro660=) c.2036C= (p.Pro679=) c.1985C= (p.Pro662=) c.2090C= (p.Pro697=) c.1997C= (p.Pro666=) c.2096C= (p.Pro699=) c.2126C= (p.Pro709=) c.2117C= (p.Pro706=) c.2087C= (p.Pro696=) c.2030C= (p.Pro677=) c.1976C= (p.Pro659=) c.1769C= (p.Pro590=) c.2183C= (p.Pro728=) c.2177C= (p.Pro726=) c.2174C= (p.Pro725=) c.2234C= (p.Pro745=) c.2225C= (p.Pro742=) c.2144C= (p.Pro715=) c.2093C= (p.Pro698=) | |
14 | g.33800382C>G | CA7150932 | NPAS3 | c.2075C>G (p.Pro692Arg) c.2084C>G (p.Pro695Arg) c.1975C>G c.793+2801C>G c.1979C>G (p.Pro660Arg) c.2036C>G (p.Pro679Arg) c.1985C>G (p.Pro662Arg) c.2090C>G (p.Pro697Arg) c.1997C>G (p.Pro666Arg) c.2096C>G (p.Pro699Arg) c.2126C>G (p.Pro709Arg) c.2117C>G (p.Pro706Arg) c.2087C>G (p.Pro696Arg) c.2030C>G (p.Pro677Arg) c.1976C>G (p.Pro659Arg) c.1769C>G (p.Pro590Arg) c.2183C>G (p.Pro728Arg) c.2177C>G (p.Pro726Arg) c.2174C>G (p.Pro725Arg) c.2234C>G (p.Pro745Arg) c.2225C>G (p.Pro742Arg) c.2144C>G (p.Pro715Arg) c.2093C>G (p.Pro698Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800382C>T | CA7150931 | NPAS3 | c.2075C>T (p.Pro692Leu) c.2084C>T (p.Pro695Leu) c.1975C>T c.793+2801C>T c.1979C>T (p.Pro660Leu) c.2036C>T (p.Pro679Leu) c.1985C>T (p.Pro662Leu) c.2090C>T (p.Pro697Leu) c.1997C>T (p.Pro666Leu) c.2096C>T (p.Pro699Leu) c.2126C>T (p.Pro709Leu) c.2117C>T (p.Pro706Leu) c.2087C>T (p.Pro696Leu) c.2030C>T (p.Pro677Leu) c.1976C>T (p.Pro659Leu) c.1769C>T (p.Pro590Leu) c.2183C>T (p.Pro728Leu) c.2177C>T (p.Pro726Leu) c.2174C>T (p.Pro725Leu) c.2234C>T (p.Pro745Leu) c.2225C>T (p.Pro742Leu) c.2144C>T (p.Pro715Leu) c.2093C>T (p.Pro698Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800383G>A | CA486093074 | NPAS3 | c.2076G>A (p.Pro692=) c.2085G>A (p.Pro695=) c.1976G>A c.793+2802G>A c.1980G>A (p.Pro660=) c.2037G>A (p.Pro679=) c.1986G>A (p.Pro662=) c.2091G>A (p.Pro697=) c.1998G>A (p.Pro666=) c.2097G>A (p.Pro699=) c.2127G>A (p.Pro709=) c.2118G>A (p.Pro706=) c.2088G>A (p.Pro696=) c.2031G>A (p.Pro677=) c.1977G>A (p.Pro659=) c.1770G>A (p.Pro590=) c.2184G>A (p.Pro728=) c.2178G>A (p.Pro726=) c.2175G>A (p.Pro725=) c.2235G>A (p.Pro745=) c.2226G>A (p.Pro742=) c.2145G>A (p.Pro715=) c.2094G>A (p.Pro698=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800383G>C | CA486093075 | NPAS3 | c.2076G>C (p.Pro692=) c.2085G>C (p.Pro695=) c.1976G>C c.793+2802G>C c.1980G>C (p.Pro660=) c.2037G>C (p.Pro679=) c.1986G>C (p.Pro662=) c.2091G>C (p.Pro697=) c.1998G>C (p.Pro666=) c.2097G>C (p.Pro699=) c.2127G>C (p.Pro709=) c.2118G>C (p.Pro706=) c.2088G>C (p.Pro696=) c.2031G>C (p.Pro677=) c.1977G>C (p.Pro659=) c.1770G>C (p.Pro590=) c.2184G>C (p.Pro728=) c.2178G>C (p.Pro726=) c.2175G>C (p.Pro725=) c.2235G>C (p.Pro745=) c.2226G>C (p.Pro742=) c.2145G>C (p.Pro715=) c.2094G>C (p.Pro698=) | |
14 | g.33800383G= | CA2128327346 | NPAS3 | c.2076G= (p.Pro692=) c.2085G= (p.Pro695=) c.1976G= c.793+2802G= c.1980G= (p.Pro660=) c.2037G= (p.Pro679=) c.1986G= (p.Pro662=) c.2091G= (p.Pro697=) c.1998G= (p.Pro666=) c.2097G= (p.Pro699=) c.2127G= (p.Pro709=) c.2118G= (p.Pro706=) c.2088G= (p.Pro696=) c.2031G= (p.Pro677=) c.1977G= (p.Pro659=) c.1770G= (p.Pro590=) c.2184G= (p.Pro728=) c.2178G= (p.Pro726=) c.2175G= (p.Pro725=) c.2235G= (p.Pro745=) c.2226G= (p.Pro742=) c.2145G= (p.Pro715=) c.2094G= (p.Pro698=) | |
14 | g.33800383G>T | CA486093077 | NPAS3 | c.2076G>T (p.Pro692=) c.2085G>T (p.Pro695=) c.1976G>T c.793+2802G>T c.1980G>T (p.Pro660=) c.2037G>T (p.Pro679=) c.1986G>T (p.Pro662=) c.2091G>T (p.Pro697=) c.1998G>T (p.Pro666=) c.2097G>T (p.Pro699=) c.2127G>T (p.Pro709=) c.2118G>T (p.Pro706=) c.2088G>T (p.Pro696=) c.2031G>T (p.Pro677=) c.1977G>T (p.Pro659=) c.1770G>T (p.Pro590=) c.2184G>T (p.Pro728=) c.2178G>T (p.Pro726=) c.2175G>T (p.Pro725=) c.2235G>T (p.Pro745=) c.2226G>T (p.Pro742=) c.2145G>T (p.Pro715=) c.2094G>T (p.Pro698=) | |
14 | g.33800384T>A | CA389413814 | NPAS3 | c.2077T>A (p.Ser693Thr) c.2086T>A (p.Ser696Thr) c.1977T>A c.793+2803T>A c.1981T>A (p.Ser661Thr) c.2038T>A (p.Ser680Thr) c.1987T>A (p.Ser663Thr) c.2092T>A (p.Ser698Thr) c.1999T>A (p.Ser667Thr) c.2098T>A (p.Ser700Thr) c.2128T>A (p.Ser710Thr) c.2119T>A (p.Ser707Thr) c.2089T>A (p.Ser697Thr) c.2032T>A (p.Ser678Thr) c.1978T>A (p.Ser660Thr) c.1771T>A (p.Ser591Thr) c.2185T>A (p.Ser729Thr) c.2179T>A (p.Ser727Thr) c.2176T>A (p.Ser726Thr) c.2236T>A (p.Ser746Thr) c.2227T>A (p.Ser743Thr) c.2146T>A (p.Ser716Thr) c.2095T>A (p.Ser699Thr) | gnomAD v4 |
14 | g.33800384T>C | CA389413812 | NPAS3 | c.2077T>C (p.Ser693Pro) c.2086T>C (p.Ser696Pro) c.1977T>C c.793+2803T>C c.1981T>C (p.Ser661Pro) c.2038T>C (p.Ser680Pro) c.1987T>C (p.Ser663Pro) c.2092T>C (p.Ser698Pro) c.1999T>C (p.Ser667Pro) c.2098T>C (p.Ser700Pro) c.2128T>C (p.Ser710Pro) c.2119T>C (p.Ser707Pro) c.2089T>C (p.Ser697Pro) c.2032T>C (p.Ser678Pro) c.1978T>C (p.Ser660Pro) c.1771T>C (p.Ser591Pro) c.2185T>C (p.Ser729Pro) c.2179T>C (p.Ser727Pro) c.2176T>C (p.Ser726Pro) c.2236T>C (p.Ser746Pro) c.2227T>C (p.Ser743Pro) c.2146T>C (p.Ser716Pro) c.2095T>C (p.Ser699Pro) | |
14 | g.33800384T>G | CA389413810 | NPAS3 | c.2077T>G (p.Ser693Ala) c.2086T>G (p.Ser696Ala) c.1977T>G c.793+2803T>G c.1981T>G (p.Ser661Ala) c.2038T>G (p.Ser680Ala) c.1987T>G (p.Ser663Ala) c.2092T>G (p.Ser698Ala) c.1999T>G (p.Ser667Ala) c.2098T>G (p.Ser700Ala) c.2128T>G (p.Ser710Ala) c.2119T>G (p.Ser707Ala) c.2089T>G (p.Ser697Ala) c.2032T>G (p.Ser678Ala) c.1978T>G (p.Ser660Ala) c.1771T>G (p.Ser591Ala) c.2185T>G (p.Ser729Ala) c.2179T>G (p.Ser727Ala) c.2176T>G (p.Ser726Ala) c.2236T>G (p.Ser746Ala) c.2227T>G (p.Ser743Ala) c.2146T>G (p.Ser716Ala) c.2095T>G (p.Ser699Ala) | gnomAD v3 gnomAD v4 |
14 | g.33800385C>A | CA389413817 | NPAS3 | c.2078C>A (p.Ser693Tyr) c.2087C>A (p.Ser696Tyr) c.1978C>A c.793+2804C>A c.1982C>A (p.Ser661Tyr) c.2039C>A (p.Ser680Tyr) c.1988C>A (p.Ser663Tyr) c.2093C>A (p.Ser698Tyr) c.2000C>A (p.Ser667Tyr) c.2099C>A (p.Ser700Tyr) c.2129C>A (p.Ser710Tyr) c.2120C>A (p.Ser707Tyr) c.2090C>A (p.Ser697Tyr) c.2033C>A (p.Ser678Tyr) c.1979C>A (p.Ser660Tyr) c.1772C>A (p.Ser591Tyr) c.2186C>A (p.Ser729Tyr) c.2180C>A (p.Ser727Tyr) c.2177C>A (p.Ser726Tyr) c.2237C>A (p.Ser746Tyr) c.2228C>A (p.Ser743Tyr) c.2147C>A (p.Ser716Tyr) c.2096C>A (p.Ser699Tyr) | |
14 | g.33800385C= | CA2128327352 | NPAS3 | c.2078C= (p.Ser693=) c.2087C= (p.Ser696=) c.1978C= c.793+2804C= c.1982C= (p.Ser661=) c.2039C= (p.Ser680=) c.1988C= (p.Ser663=) c.2093C= (p.Ser698=) c.2000C= (p.Ser667=) c.2099C= (p.Ser700=) c.2129C= (p.Ser710=) c.2120C= (p.Ser707=) c.2090C= (p.Ser697=) c.2033C= (p.Ser678=) c.1979C= (p.Ser660=) c.1772C= (p.Ser591=) c.2186C= (p.Ser729=) c.2180C= (p.Ser727=) c.2177C= (p.Ser726=) c.2237C= (p.Ser746=) c.2228C= (p.Ser743=) c.2147C= (p.Ser716=) c.2096C= (p.Ser699=) | |
14 | g.33800385C>G | CA389413818 | NPAS3 | c.2078C>G (p.Ser693Cys) c.2087C>G (p.Ser696Cys) c.1978C>G c.793+2804C>G c.1982C>G (p.Ser661Cys) c.2039C>G (p.Ser680Cys) c.1988C>G (p.Ser663Cys) c.2093C>G (p.Ser698Cys) c.2000C>G (p.Ser667Cys) c.2099C>G (p.Ser700Cys) c.2129C>G (p.Ser710Cys) c.2120C>G (p.Ser707Cys) c.2090C>G (p.Ser697Cys) c.2033C>G (p.Ser678Cys) c.1979C>G (p.Ser660Cys) c.1772C>G (p.Ser591Cys) c.2186C>G (p.Ser729Cys) c.2180C>G (p.Ser727Cys) c.2177C>G (p.Ser726Cys) c.2237C>G (p.Ser746Cys) c.2228C>G (p.Ser743Cys) c.2147C>G (p.Ser716Cys) c.2096C>G (p.Ser699Cys) | COSMIC COSMIC COSMIC |
14 | g.33800385C>T | CA389413820 | NPAS3 | c.2078C>T (p.Ser693Phe) c.2087C>T (p.Ser696Phe) c.1978C>T c.793+2804C>T c.1982C>T (p.Ser661Phe) c.2039C>T (p.Ser680Phe) c.1988C>T (p.Ser663Phe) c.2093C>T (p.Ser698Phe) c.2000C>T (p.Ser667Phe) c.2099C>T (p.Ser700Phe) c.2129C>T (p.Ser710Phe) c.2120C>T (p.Ser707Phe) c.2090C>T (p.Ser697Phe) c.2033C>T (p.Ser678Phe) c.1979C>T (p.Ser660Phe) c.1772C>T (p.Ser591Phe) c.2186C>T (p.Ser729Phe) c.2180C>T (p.Ser727Phe) c.2177C>T (p.Ser726Phe) c.2237C>T (p.Ser746Phe) c.2228C>T (p.Ser743Phe) c.2147C>T (p.Ser716Phe) c.2096C>T (p.Ser699Phe) | dbSNP |
14 | g.33800388del | CA2624512031 | NPAS3 | c.2081del (p.Pro694ArgfsTer?) c.2090del (p.Pro697ArgfsTer?) c.1981del c.793+2807del c.1985del (p.Pro662ArgfsTer?) c.2042del (p.Pro681ArgfsTer?) c.1991del (p.Pro664ArgfsTer?) c.2096del (p.Pro699ArgfsTer?) c.2003del (p.Pro668ArgfsTer?) c.2102del (p.Pro701ArgfsTer?) c.2132del (p.Pro711ArgfsTer?) c.2123del (p.Pro708ArgfsTer?) c.2093del (p.Pro698ArgfsTer?) c.2036del (p.Pro679ArgfsTer?) c.1982del (p.Pro661ArgfsTer?) c.1775del (p.Pro592ArgfsTer?) c.2189del (p.Pro730ArgfsTer?) c.2183del (p.Pro728ArgfsTer?) c.2180del (p.Pro727ArgfsTer?) c.2240del (p.Pro747ArgfsTer?) c.2231del (p.Pro744ArgfsTer?) c.2150del (p.Pro717ArgfsTer?) c.2099del (p.Pro700ArgfsTer?) | gnomAD v4 |
14 | g.33800386C>A | CA486093080 | NPAS3 | c.2079C>A (p.Ser693=) c.2088C>A (p.Ser696=) c.1979C>A c.793+2805C>A c.1983C>A (p.Ser661=) c.2040C>A (p.Ser680=) c.1989C>A (p.Ser663=) c.2094C>A (p.Ser698=) c.2001C>A (p.Ser667=) c.2100C>A (p.Ser700=) c.2130C>A (p.Ser710=) c.2121C>A (p.Ser707=) c.2091C>A (p.Ser697=) c.2034C>A (p.Ser678=) c.1980C>A (p.Ser660=) c.1773C>A (p.Ser591=) c.2187C>A (p.Ser729=) c.2181C>A (p.Ser727=) c.2178C>A (p.Ser726=) c.2238C>A (p.Ser746=) c.2229C>A (p.Ser743=) c.2148C>A (p.Ser716=) c.2097C>A (p.Ser699=) | |
14 | g.33800386C>G | CA486093081 | NPAS3 | c.2079C>G (p.Ser693=) c.2088C>G (p.Ser696=) c.1979C>G c.793+2805C>G c.1983C>G (p.Ser661=) c.2040C>G (p.Ser680=) c.1989C>G (p.Ser663=) c.2094C>G (p.Ser698=) c.2001C>G (p.Ser667=) c.2100C>G (p.Ser700=) c.2130C>G (p.Ser710=) c.2121C>G (p.Ser707=) c.2091C>G (p.Ser697=) c.2034C>G (p.Ser678=) c.1980C>G (p.Ser660=) c.1773C>G (p.Ser591=) c.2187C>G (p.Ser729=) c.2181C>G (p.Ser727=) c.2178C>G (p.Ser726=) c.2238C>G (p.Ser746=) c.2229C>G (p.Ser743=) c.2148C>G (p.Ser716=) c.2097C>G (p.Ser699=) | |
14 | g.33800386C>T | CA486093082 | NPAS3 | c.2079C>T (p.Ser693=) c.2088C>T (p.Ser696=) c.1979C>T c.793+2805C>T c.1983C>T (p.Ser661=) c.2040C>T (p.Ser680=) c.1989C>T (p.Ser663=) c.2094C>T (p.Ser698=) c.2001C>T (p.Ser667=) c.2100C>T (p.Ser700=) c.2130C>T (p.Ser710=) c.2121C>T (p.Ser707=) c.2091C>T (p.Ser697=) c.2034C>T (p.Ser678=) c.1980C>T (p.Ser660=) c.1773C>T (p.Ser591=) c.2187C>T (p.Ser729=) c.2181C>T (p.Ser727=) c.2178C>T (p.Ser726=) c.2238C>T (p.Ser746=) c.2229C>T (p.Ser743=) c.2148C>T (p.Ser716=) c.2097C>T (p.Ser699=) | COSMIC COSMIC COSMIC |
14 | g.33800387C>A | CA389413823 | NPAS3 | c.2080C>A (p.Pro694Thr) c.2089C>A (p.Pro697Thr) c.1980C>A c.793+2806C>A c.1984C>A (p.Pro662Thr) c.2041C>A (p.Pro681Thr) c.1990C>A (p.Pro664Thr) c.2095C>A (p.Pro699Thr) c.2002C>A (p.Pro668Thr) c.2101C>A (p.Pro701Thr) c.2131C>A (p.Pro711Thr) c.2122C>A (p.Pro708Thr) c.2092C>A (p.Pro698Thr) c.2035C>A (p.Pro679Thr) c.1981C>A (p.Pro661Thr) c.1774C>A (p.Pro592Thr) c.2188C>A (p.Pro730Thr) c.2182C>A (p.Pro728Thr) c.2179C>A (p.Pro727Thr) c.2239C>A (p.Pro747Thr) c.2230C>A (p.Pro744Thr) c.2149C>A (p.Pro717Thr) c.2098C>A (p.Pro700Thr) | gnomAD v4 |
14 | g.33800387C>G | CA389413825 | NPAS3 | c.2080C>G (p.Pro694Ala) c.2089C>G (p.Pro697Ala) c.1980C>G c.793+2806C>G c.1984C>G (p.Pro662Ala) c.2041C>G (p.Pro681Ala) c.1990C>G (p.Pro664Ala) c.2095C>G (p.Pro699Ala) c.2002C>G (p.Pro668Ala) c.2101C>G (p.Pro701Ala) c.2131C>G (p.Pro711Ala) c.2122C>G (p.Pro708Ala) c.2092C>G (p.Pro698Ala) c.2035C>G (p.Pro679Ala) c.1981C>G (p.Pro661Ala) c.1774C>G (p.Pro592Ala) c.2188C>G (p.Pro730Ala) c.2182C>G (p.Pro728Ala) c.2179C>G (p.Pro727Ala) c.2239C>G (p.Pro747Ala) c.2230C>G (p.Pro744Ala) c.2149C>G (p.Pro717Ala) c.2098C>G (p.Pro700Ala) | gnomAD v4 |
14 | g.33800387C>T | CA389413827 | NPAS3 | c.2080C>T (p.Pro694Ser) c.2089C>T (p.Pro697Ser) c.1980C>T c.793+2806C>T c.1984C>T (p.Pro662Ser) c.2041C>T (p.Pro681Ser) c.1990C>T (p.Pro664Ser) c.2095C>T (p.Pro699Ser) c.2002C>T (p.Pro668Ser) c.2101C>T (p.Pro701Ser) c.2131C>T (p.Pro711Ser) c.2122C>T (p.Pro708Ser) c.2092C>T (p.Pro698Ser) c.2035C>T (p.Pro679Ser) c.1981C>T (p.Pro661Ser) c.1774C>T (p.Pro592Ser) c.2188C>T (p.Pro730Ser) c.2182C>T (p.Pro728Ser) c.2179C>T (p.Pro727Ser) c.2239C>T (p.Pro747Ser) c.2230C>T (p.Pro744Ser) c.2149C>T (p.Pro717Ser) c.2098C>T (p.Pro700Ser) | |
14 | g.33800388C>A | CA389413829 | NPAS3 | c.2081C>A (p.Pro694Gln) c.2090C>A (p.Pro697Gln) c.1981C>A c.793+2807C>A c.1985C>A (p.Pro662Gln) c.2042C>A (p.Pro681Gln) c.1991C>A (p.Pro664Gln) c.2096C>A (p.Pro699Gln) c.2003C>A (p.Pro668Gln) c.2102C>A (p.Pro701Gln) c.2132C>A (p.Pro711Gln) c.2123C>A (p.Pro708Gln) c.2093C>A (p.Pro698Gln) c.2036C>A (p.Pro679Gln) c.1982C>A (p.Pro661Gln) c.1775C>A (p.Pro592Gln) c.2189C>A (p.Pro730Gln) c.2183C>A (p.Pro728Gln) c.2180C>A (p.Pro727Gln) c.2240C>A (p.Pro747Gln) c.2231C>A (p.Pro744Gln) c.2150C>A (p.Pro717Gln) c.2099C>A (p.Pro700Gln) | |
14 | g.33800388C>G | CA389413830 | NPAS3 | c.2081C>G (p.Pro694Arg) c.2090C>G (p.Pro697Arg) c.1981C>G c.793+2807C>G c.1985C>G (p.Pro662Arg) c.2042C>G (p.Pro681Arg) c.1991C>G (p.Pro664Arg) c.2096C>G (p.Pro699Arg) c.2003C>G (p.Pro668Arg) c.2102C>G (p.Pro701Arg) c.2132C>G (p.Pro711Arg) c.2123C>G (p.Pro708Arg) c.2093C>G (p.Pro698Arg) c.2036C>G (p.Pro679Arg) c.1982C>G (p.Pro661Arg) c.1775C>G (p.Pro592Arg) c.2189C>G (p.Pro730Arg) c.2183C>G (p.Pro728Arg) c.2180C>G (p.Pro727Arg) c.2240C>G (p.Pro747Arg) c.2231C>G (p.Pro744Arg) c.2150C>G (p.Pro717Arg) c.2099C>G (p.Pro700Arg) | |
14 | g.33800388C>T | CA389413832 | NPAS3 | c.2081C>T (p.Pro694Leu) c.2090C>T (p.Pro697Leu) c.1981C>T c.793+2807C>T c.1985C>T (p.Pro662Leu) c.2042C>T (p.Pro681Leu) c.1991C>T (p.Pro664Leu) c.2096C>T (p.Pro699Leu) c.2003C>T (p.Pro668Leu) c.2102C>T (p.Pro701Leu) c.2132C>T (p.Pro711Leu) c.2123C>T (p.Pro708Leu) c.2093C>T (p.Pro698Leu) c.2036C>T (p.Pro679Leu) c.1982C>T (p.Pro661Leu) c.1775C>T (p.Pro592Leu) c.2189C>T (p.Pro730Leu) c.2183C>T (p.Pro728Leu) c.2180C>T (p.Pro727Leu) c.2240C>T (p.Pro747Leu) c.2231C>T (p.Pro744Leu) c.2150C>T (p.Pro717Leu) c.2099C>T (p.Pro700Leu) | |
14 | g.33800389G>A | CA486093086 | NPAS3 | c.2082G>A (p.Pro694=) c.2091G>A (p.Pro697=) c.1982G>A c.793+2808G>A c.1986G>A (p.Pro662=) c.2043G>A (p.Pro681=) c.1992G>A (p.Pro664=) c.2097G>A (p.Pro699=) c.2004G>A (p.Pro668=) c.2103G>A (p.Pro701=) c.2133G>A (p.Pro711=) c.2124G>A (p.Pro708=) c.2094G>A (p.Pro698=) c.2037G>A (p.Pro679=) c.1983G>A (p.Pro661=) c.1776G>A (p.Pro592=) c.2190G>A (p.Pro730=) c.2184G>A (p.Pro728=) c.2181G>A (p.Pro727=) c.2241G>A (p.Pro747=) c.2232G>A (p.Pro744=) c.2151G>A (p.Pro717=) c.2100G>A (p.Pro700=) | gnomAD v4 |
14 | g.33800389G>C | CA486093087 | NPAS3 | c.2082G>C (p.Pro694=) c.2091G>C (p.Pro697=) c.1982G>C c.793+2808G>C c.1986G>C (p.Pro662=) c.2043G>C (p.Pro681=) c.1992G>C (p.Pro664=) c.2097G>C (p.Pro699=) c.2004G>C (p.Pro668=) c.2103G>C (p.Pro701=) c.2133G>C (p.Pro711=) c.2124G>C (p.Pro708=) c.2094G>C (p.Pro698=) c.2037G>C (p.Pro679=) c.1983G>C (p.Pro661=) c.1776G>C (p.Pro592=) c.2190G>C (p.Pro730=) c.2184G>C (p.Pro728=) c.2181G>C (p.Pro727=) c.2241G>C (p.Pro747=) c.2232G>C (p.Pro744=) c.2151G>C (p.Pro717=) c.2100G>C (p.Pro700=) | |
14 | g.33800389G>T | CA486093085 | NPAS3 | c.2082G>T (p.Pro694=) c.2091G>T (p.Pro697=) c.1982G>T c.793+2808G>T c.1986G>T (p.Pro662=) c.2043G>T (p.Pro681=) c.1992G>T (p.Pro664=) c.2097G>T (p.Pro699=) c.2004G>T (p.Pro668=) c.2103G>T (p.Pro701=) c.2133G>T (p.Pro711=) c.2124G>T (p.Pro708=) c.2094G>T (p.Pro698=) c.2037G>T (p.Pro679=) c.1983G>T (p.Pro661=) c.1776G>T (p.Pro592=) c.2190G>T (p.Pro730=) c.2184G>T (p.Pro728=) c.2181G>T (p.Pro727=) c.2241G>T (p.Pro747=) c.2232G>T (p.Pro744=) c.2151G>T (p.Pro717=) c.2100G>T (p.Pro700=) | gnomAD v4 |
14 | g.33800389_33800390insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC | CA2513165665 | NPAS3 | c.2082_2083insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln695SerfsTer?) c.2091_2092insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln698SerfsTer?) c.1982_1983insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC c.793+2808_793+2809insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC c.1986_1987insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln663SerfsTer?) c.2043_2044insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln682SerfsTer?) c.1992_1993insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln665SerfsTer?) c.2097_2098insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln700SerfsTer?) c.2004_2005insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln669SerfsTer?) c.2103_2104insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln702SerfsTer?) c.2133_2134insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln712SerfsTer?) c.2124_2125insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln709SerfsTer?) c.2094_2095insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln699SerfsTer?) c.2037_2038insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln680SerfsTer?) c.1983_1984insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln662SerfsTer?) c.1776_1777insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln593SerfsTer?) c.2190_2191insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln731SerfsTer?) c.2184_2185insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln729SerfsTer?) c.2181_2182insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln728SerfsTer?) c.2241_2242insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln748SerfsTer?) c.2232_2233insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln745SerfsTer?) c.2151_2152insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln718SerfsTer?) c.2100_2101insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGC (p.Gln701SerfsTer?) | |
14 | g.33800390C>A | CA389413834 | NPAS3 | c.2083C>A (p.Gln695Lys) c.2092C>A (p.Gln698Lys) c.1983C>A c.793+2809C>A c.1987C>A (p.Gln663Lys) c.2044C>A (p.Gln682Lys) c.1993C>A (p.Gln665Lys) c.2098C>A (p.Gln700Lys) c.2005C>A (p.Gln669Lys) c.2104C>A (p.Gln702Lys) c.2134C>A (p.Gln712Lys) c.2125C>A (p.Gln709Lys) c.2095C>A (p.Gln699Lys) c.2038C>A (p.Gln680Lys) c.1984C>A (p.Gln662Lys) c.1777C>A (p.Gln593Lys) c.2191C>A (p.Gln731Lys) c.2185C>A (p.Gln729Lys) c.2182C>A (p.Gln728Lys) c.2242C>A (p.Gln748Lys) c.2233C>A (p.Gln745Lys) c.2152C>A (p.Gln718Lys) c.2101C>A (p.Gln701Lys) | |
14 | g.33800390C>G | CA389413835 | NPAS3 | c.2083C>G (p.Gln695Glu) c.2092C>G (p.Gln698Glu) c.1983C>G c.793+2809C>G c.1987C>G (p.Gln663Glu) c.2044C>G (p.Gln682Glu) c.1993C>G (p.Gln665Glu) c.2098C>G (p.Gln700Glu) c.2005C>G (p.Gln669Glu) c.2104C>G (p.Gln702Glu) c.2134C>G (p.Gln712Glu) c.2125C>G (p.Gln709Glu) c.2095C>G (p.Gln699Glu) c.2038C>G (p.Gln680Glu) c.1984C>G (p.Gln662Glu) c.1777C>G (p.Gln593Glu) c.2191C>G (p.Gln731Glu) c.2185C>G (p.Gln729Glu) c.2182C>G (p.Gln728Glu) c.2242C>G (p.Gln748Glu) c.2233C>G (p.Gln745Glu) c.2152C>G (p.Gln718Glu) c.2101C>G (p.Gln701Glu) | |
14 | g.33800390C>T | CA389413836 | NPAS3 | c.2083C>T (p.Gln695Ter) c.2092C>T (p.Gln698Ter) c.1983C>T c.793+2809C>T c.1987C>T (p.Gln663Ter) c.2044C>T (p.Gln682Ter) c.1993C>T (p.Gln665Ter) c.2098C>T (p.Gln700Ter) c.2005C>T (p.Gln669Ter) c.2104C>T (p.Gln702Ter) c.2134C>T (p.Gln712Ter) c.2125C>T (p.Gln709Ter) c.2095C>T (p.Gln699Ter) c.2038C>T (p.Gln680Ter) c.1984C>T (p.Gln662Ter) c.1777C>T (p.Gln593Ter) c.2191C>T (p.Gln731Ter) c.2185C>T (p.Gln729Ter) c.2182C>T (p.Gln728Ter) c.2242C>T (p.Gln748Ter) c.2233C>T (p.Gln745Ter) c.2152C>T (p.Gln718Ter) c.2101C>T (p.Gln701Ter) | |
14 | g.33800391A>C | CA389413839 | NPAS3 | c.2084A>C (p.Gln695Pro) c.2093A>C (p.Gln698Pro) c.1984A>C c.793+2810A>C c.1988A>C (p.Gln663Pro) c.2045A>C (p.Gln682Pro) c.1994A>C (p.Gln665Pro) c.2099A>C (p.Gln700Pro) c.2006A>C (p.Gln669Pro) c.2105A>C (p.Gln702Pro) c.2135A>C (p.Gln712Pro) c.2126A>C (p.Gln709Pro) c.2096A>C (p.Gln699Pro) c.2039A>C (p.Gln680Pro) c.1985A>C (p.Gln662Pro) c.1778A>C (p.Gln593Pro) c.2192A>C (p.Gln731Pro) c.2186A>C (p.Gln729Pro) c.2183A>C (p.Gln728Pro) c.2243A>C (p.Gln748Pro) c.2234A>C (p.Gln745Pro) c.2153A>C (p.Gln718Pro) c.2102A>C (p.Gln701Pro) | gnomAD v4 |
14 | g.33800391A>G | CA389413843 | NPAS3 | c.2084A>G (p.Gln695Arg) c.2093A>G (p.Gln698Arg) c.1984A>G c.793+2810A>G c.1988A>G (p.Gln663Arg) c.2045A>G (p.Gln682Arg) c.1994A>G (p.Gln665Arg) c.2099A>G (p.Gln700Arg) c.2006A>G (p.Gln669Arg) c.2105A>G (p.Gln702Arg) c.2135A>G (p.Gln712Arg) c.2126A>G (p.Gln709Arg) c.2096A>G (p.Gln699Arg) c.2039A>G (p.Gln680Arg) c.1985A>G (p.Gln662Arg) c.1778A>G (p.Gln593Arg) c.2192A>G (p.Gln731Arg) c.2186A>G (p.Gln729Arg) c.2183A>G (p.Gln728Arg) c.2243A>G (p.Gln748Arg) c.2234A>G (p.Gln745Arg) c.2153A>G (p.Gln718Arg) c.2102A>G (p.Gln701Arg) | |
14 | g.33800391A>T | CA389413842 | NPAS3 | c.2084A>T (p.Gln695Leu) c.2093A>T (p.Gln698Leu) c.1984A>T c.793+2810A>T c.1988A>T (p.Gln663Leu) c.2045A>T (p.Gln682Leu) c.1994A>T (p.Gln665Leu) c.2099A>T (p.Gln700Leu) c.2006A>T (p.Gln669Leu) c.2105A>T (p.Gln702Leu) c.2135A>T (p.Gln712Leu) c.2126A>T (p.Gln709Leu) c.2096A>T (p.Gln699Leu) c.2039A>T (p.Gln680Leu) c.1985A>T (p.Gln662Leu) c.1778A>T (p.Gln593Leu) c.2192A>T (p.Gln731Leu) c.2186A>T (p.Gln729Leu) c.2183A>T (p.Gln728Leu) c.2243A>T (p.Gln748Leu) c.2234A>T (p.Gln745Leu) c.2153A>T (p.Gln718Leu) c.2102A>T (p.Gln701Leu) | gnomAD v4 |
14 | g.33800392G>A | CA486093089 | NPAS3 | c.2085G>A (p.Gln695=) c.2094G>A (p.Gln698=) c.1985G>A c.793+2811G>A c.1989G>A (p.Gln663=) c.2046G>A (p.Gln682=) c.1995G>A (p.Gln665=) c.2100G>A (p.Gln700=) c.2007G>A (p.Gln669=) c.2106G>A (p.Gln702=) c.2136G>A (p.Gln712=) c.2127G>A (p.Gln709=) c.2097G>A (p.Gln699=) c.2040G>A (p.Gln680=) c.1986G>A (p.Gln662=) c.1779G>A (p.Gln593=) c.2193G>A (p.Gln731=) c.2187G>A (p.Gln729=) c.2184G>A (p.Gln728=) c.2244G>A (p.Gln748=) c.2235G>A (p.Gln745=) c.2154G>A (p.Gln718=) c.2103G>A (p.Gln701=) | |
14 | g.33800392G>C | CA389413846 | NPAS3 | c.2085G>C (p.Gln695His) c.2094G>C (p.Gln698His) c.1985G>C c.793+2811G>C c.1989G>C (p.Gln663His) c.2046G>C (p.Gln682His) c.1995G>C (p.Gln665His) c.2100G>C (p.Gln700His) c.2007G>C (p.Gln669His) c.2106G>C (p.Gln702His) c.2136G>C (p.Gln712His) c.2127G>C (p.Gln709His) c.2097G>C (p.Gln699His) c.2040G>C (p.Gln680His) c.1986G>C (p.Gln662His) c.1779G>C (p.Gln593His) c.2193G>C (p.Gln731His) c.2187G>C (p.Gln729His) c.2184G>C (p.Gln728His) c.2244G>C (p.Gln748His) c.2235G>C (p.Gln745His) c.2154G>C (p.Gln718His) c.2103G>C (p.Gln701His) | |
14 | g.33800392G= | CA2128327355 | NPAS3 | c.2085G= (p.Gln695=) c.2094G= (p.Gln698=) c.1985G= c.793+2811G= c.1989G= (p.Gln663=) c.2046G= (p.Gln682=) c.1995G= (p.Gln665=) c.2100G= (p.Gln700=) c.2007G= (p.Gln669=) c.2106G= (p.Gln702=) c.2136G= (p.Gln712=) c.2127G= (p.Gln709=) c.2097G= (p.Gln699=) c.2040G= (p.Gln680=) c.1986G= (p.Gln662=) c.1779G= (p.Gln593=) c.2193G= (p.Gln731=) c.2187G= (p.Gln729=) c.2184G= (p.Gln728=) c.2244G= (p.Gln748=) c.2235G= (p.Gln745=) c.2154G= (p.Gln718=) c.2103G= (p.Gln701=) | |
14 | g.33800392G>T | CA389413848 | NPAS3 | c.2085G>T (p.Gln695His) c.2094G>T (p.Gln698His) c.1985G>T c.793+2811G>T c.1989G>T (p.Gln663His) c.2046G>T (p.Gln682His) c.1995G>T (p.Gln665His) c.2100G>T (p.Gln700His) c.2007G>T (p.Gln669His) c.2106G>T (p.Gln702His) c.2136G>T (p.Gln712His) c.2127G>T (p.Gln709His) c.2097G>T (p.Gln699His) c.2040G>T (p.Gln680His) c.1986G>T (p.Gln662His) c.1779G>T (p.Gln593His) c.2193G>T (p.Gln731His) c.2187G>T (p.Gln729His) c.2184G>T (p.Gln728His) c.2244G>T (p.Gln748His) c.2235G>T (p.Gln745His) c.2154G>T (p.Gln718His) c.2103G>T (p.Gln701His) | gnomAD v4 |
14 | g.33800393G>A | CA389413853 | NPAS3 | c.2086G>A (p.Gly696Ser) c.2095G>A (p.Gly699Ser) c.1986G>A c.793+2812G>A c.1990G>A (p.Gly664Ser) c.2047G>A (p.Gly683Ser) c.1996G>A (p.Gly666Ser) c.2101G>A (p.Gly701Ser) c.2008G>A (p.Gly670Ser) c.2107G>A (p.Gly703Ser) c.2137G>A (p.Gly713Ser) c.2128G>A (p.Gly710Ser) c.2098G>A (p.Gly700Ser) c.2041G>A (p.Gly681Ser) c.1987G>A (p.Gly663Ser) c.1780G>A (p.Gly594Ser) c.2194G>A (p.Gly732Ser) c.2188G>A (p.Gly730Ser) c.2185G>A (p.Gly729Ser) c.2245G>A (p.Gly749Ser) c.2236G>A (p.Gly746Ser) c.2155G>A (p.Gly719Ser) c.2104G>A (p.Gly702Ser) | |
14 | g.33800393G>C | CA389413855 | NPAS3 | c.2086G>C (p.Gly696Arg) c.2095G>C (p.Gly699Arg) c.1986G>C c.793+2812G>C c.1990G>C (p.Gly664Arg) c.2047G>C (p.Gly683Arg) c.1996G>C (p.Gly666Arg) c.2101G>C (p.Gly701Arg) c.2008G>C (p.Gly670Arg) c.2107G>C (p.Gly703Arg) c.2137G>C (p.Gly713Arg) c.2128G>C (p.Gly710Arg) c.2098G>C (p.Gly700Arg) c.2041G>C (p.Gly681Arg) c.1987G>C (p.Gly663Arg) c.1780G>C (p.Gly594Arg) c.2194G>C (p.Gly732Arg) c.2188G>C (p.Gly730Arg) c.2185G>C (p.Gly729Arg) c.2245G>C (p.Gly749Arg) c.2236G>C (p.Gly746Arg) c.2155G>C (p.Gly719Arg) c.2104G>C (p.Gly702Arg) | |
14 | g.33800393G>T | CA389413852 | NPAS3 | c.2086G>T (p.Gly696Cys) c.2095G>T (p.Gly699Cys) c.1986G>T c.793+2812G>T c.1990G>T (p.Gly664Cys) c.2047G>T (p.Gly683Cys) c.1996G>T (p.Gly666Cys) c.2101G>T (p.Gly701Cys) c.2008G>T (p.Gly670Cys) c.2107G>T (p.Gly703Cys) c.2137G>T (p.Gly713Cys) c.2128G>T (p.Gly710Cys) c.2098G>T (p.Gly700Cys) c.2041G>T (p.Gly681Cys) c.1987G>T (p.Gly663Cys) c.1780G>T (p.Gly594Cys) c.2194G>T (p.Gly732Cys) c.2188G>T (p.Gly730Cys) c.2185G>T (p.Gly729Cys) c.2245G>T (p.Gly749Cys) c.2236G>T (p.Gly746Cys) c.2155G>T (p.Gly719Cys) c.2104G>T (p.Gly702Cys) | |
14 | g.33800401_33800403dup | CA613803861 | NPAS3 | c.2094_2096dup (p.Gly699_Gly700insGly) c.2103_2105dup (p.Gly702_Gly703insGly) c.1994_1996dup c.793+2820_793+2822dup c.1998_2000dup (p.Gly667_Gly668insGly) c.2055_2057dup (p.Gly686_Gly687insGly) c.2004_2006dup (p.Gly669_Gly670insGly) c.2109_2111dup (p.Gly704_Gly705insGly) c.2016_2018dup (p.Gly673_Gly674insGly) c.2115_2117dup (p.Gly706_Gly707insGly) c.2145_2147dup (p.Gly716_Gly717insGly) c.2136_2138dup (p.Gly713_Gly714insGly) c.2106_2108dup (p.Gly703_Gly704insGly) c.2049_2051dup (p.Gly684_Gly685insGly) c.1995_1997dup (p.Gly666_Gly667insGly) c.1788_1790dup (p.Gly597_Gly598insGly) c.2202_2204dup (p.Gly735_Gly736insGly) c.2196_2198dup (p.Gly733_Gly734insGly) c.2193_2195dup (p.Gly732_Gly733insGly) c.2253_2255dup (p.Gly752_Gly753insGly) c.2244_2246dup (p.Gly749_Gly750insGly) c.2163_2165dup (p.Gly722_Gly723insGly) c.2112_2114dup (p.Gly705_Gly706insGly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800398_33800403dup | CA7150933 | NPAS3 | c.2091_2096dup (p.Gly699_Gly700insGlyGly) c.2100_2105dup (p.Gly702_Gly703insGlyGly) c.1991_1996dup c.793+2817_793+2822dup c.1995_2000dup (p.Gly667_Gly668insGlyGly) c.2052_2057dup (p.Gly686_Gly687insGlyGly) c.2001_2006dup (p.Gly669_Gly670insGlyGly) c.2106_2111dup (p.Gly704_Gly705insGlyGly) c.2013_2018dup (p.Gly673_Gly674insGlyGly) c.2112_2117dup (p.Gly706_Gly707insGlyGly) c.2142_2147dup (p.Gly716_Gly717insGlyGly) c.2133_2138dup (p.Gly713_Gly714insGlyGly) c.2103_2108dup (p.Gly703_Gly704insGlyGly) c.2046_2051dup (p.Gly684_Gly685insGlyGly) c.1992_1997dup (p.Gly666_Gly667insGlyGly) c.1785_1790dup (p.Gly597_Gly598insGlyGly) c.2199_2204dup (p.Gly735_Gly736insGlyGly) c.2193_2198dup (p.Gly733_Gly734insGlyGly) c.2190_2195dup (p.Gly732_Gly733insGlyGly) c.2250_2255dup (p.Gly752_Gly753insGlyGly) c.2241_2246dup (p.Gly749_Gly750insGlyGly) c.2160_2165dup (p.Gly722_Gly723insGlyGly) c.2109_2114dup (p.Gly705_Gly706insGlyGly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800401_33800403del | CA613803862 | NPAS3 | c.2094_2096del (p.Gly699del) c.2103_2105del (p.Gly702del) c.1994_1996del c.793+2820_793+2822del c.1998_2000del (p.Gly667del) c.2055_2057del (p.Gly686del) c.2004_2006del (p.Gly669del) c.2109_2111del (p.Gly704del) c.2016_2018del (p.Gly673del) c.2115_2117del (p.Gly706del) c.2145_2147del (p.Gly716del) c.2136_2138del (p.Gly713del) c.2106_2108del (p.Gly703del) c.2049_2051del (p.Gly684del) c.1995_1997del (p.Gly666del) c.1788_1790del (p.Gly597del) c.2202_2204del (p.Gly735del) c.2196_2198del (p.Gly733del) c.2193_2195del (p.Gly732del) c.2253_2255del (p.Gly752del) c.2244_2246del (p.Gly749del) c.2163_2165del (p.Gly722del) c.2112_2114del (p.Gly705del) | gnomAD v2 gnomAD v4 |
14 | g.33800394G>A | CA389413861 | NPAS3 | c.2087G>A (p.Gly696Asp) c.2096G>A (p.Gly699Asp) c.1987G>A c.793+2813G>A c.1991G>A (p.Gly664Asp) c.2048G>A (p.Gly683Asp) c.1997G>A (p.Gly666Asp) c.2102G>A (p.Gly701Asp) c.2009G>A (p.Gly670Asp) c.2108G>A (p.Gly703Asp) c.2138G>A (p.Gly713Asp) c.2129G>A (p.Gly710Asp) c.2099G>A (p.Gly700Asp) c.2042G>A (p.Gly681Asp) c.1988G>A (p.Gly663Asp) c.1781G>A (p.Gly594Asp) c.2195G>A (p.Gly732Asp) c.2189G>A (p.Gly730Asp) c.2186G>A (p.Gly729Asp) c.2246G>A (p.Gly749Asp) c.2237G>A (p.Gly746Asp) c.2156G>A (p.Gly719Asp) c.2105G>A (p.Gly702Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800394G>C | CA389413857 | NPAS3 | c.2087G>C (p.Gly696Ala) c.2096G>C (p.Gly699Ala) c.1987G>C c.793+2813G>C c.1991G>C (p.Gly664Ala) c.2048G>C (p.Gly683Ala) c.1997G>C (p.Gly666Ala) c.2102G>C (p.Gly701Ala) c.2009G>C (p.Gly670Ala) c.2108G>C (p.Gly703Ala) c.2138G>C (p.Gly713Ala) c.2129G>C (p.Gly710Ala) c.2099G>C (p.Gly700Ala) c.2042G>C (p.Gly681Ala) c.1988G>C (p.Gly663Ala) c.1781G>C (p.Gly594Ala) c.2195G>C (p.Gly732Ala) c.2189G>C (p.Gly730Ala) c.2186G>C (p.Gly729Ala) c.2246G>C (p.Gly749Ala) c.2237G>C (p.Gly746Ala) c.2156G>C (p.Gly719Ala) c.2105G>C (p.Gly702Ala) | |
14 | g.33800394G= | CA2128327360 | NPAS3 | c.2087G= (p.Gly696=) c.2096G= (p.Gly699=) c.1987G= c.793+2813G= c.1991G= (p.Gly664=) c.2048G= (p.Gly683=) c.1997G= (p.Gly666=) c.2102G= (p.Gly701=) c.2009G= (p.Gly670=) c.2108G= (p.Gly703=) c.2138G= (p.Gly713=) c.2129G= (p.Gly710=) c.2099G= (p.Gly700=) c.2042G= (p.Gly681=) c.1988G= (p.Gly663=) c.1781G= (p.Gly594=) c.2195G= (p.Gly732=) c.2189G= (p.Gly730=) c.2186G= (p.Gly729=) c.2246G= (p.Gly749=) c.2237G= (p.Gly746=) c.2156G= (p.Gly719=) c.2105G= (p.Gly702=) | |
14 | g.33800394G>T | CA389413859 | NPAS3 | c.2087G>T (p.Gly696Val) c.2096G>T (p.Gly699Val) c.1987G>T c.793+2813G>T c.1991G>T (p.Gly664Val) c.2048G>T (p.Gly683Val) c.1997G>T (p.Gly666Val) c.2102G>T (p.Gly701Val) c.2009G>T (p.Gly670Val) c.2108G>T (p.Gly703Val) c.2138G>T (p.Gly713Val) c.2129G>T (p.Gly710Val) c.2099G>T (p.Gly700Val) c.2042G>T (p.Gly681Val) c.1988G>T (p.Gly663Val) c.1781G>T (p.Gly594Val) c.2195G>T (p.Gly732Val) c.2189G>T (p.Gly730Val) c.2186G>T (p.Gly729Val) c.2246G>T (p.Gly749Val) c.2237G>T (p.Gly746Val) c.2156G>T (p.Gly719Val) c.2105G>T (p.Gly702Val) | |
14 | g.33800395C>A | CA486093092 | NPAS3 | c.2088C>A (p.Gly696=) c.2097C>A (p.Gly699=) c.1988C>A c.793+2814C>A c.1992C>A (p.Gly664=) c.2049C>A (p.Gly683=) c.1998C>A (p.Gly666=) c.2103C>A (p.Gly701=) c.2010C>A (p.Gly670=) c.2109C>A (p.Gly703=) c.2139C>A (p.Gly713=) c.2130C>A (p.Gly710=) c.2100C>A (p.Gly700=) c.2043C>A (p.Gly681=) c.1989C>A (p.Gly663=) c.1782C>A (p.Gly594=) c.2196C>A (p.Gly732=) c.2190C>A (p.Gly730=) c.2187C>A (p.Gly729=) c.2247C>A (p.Gly749=) c.2238C>A (p.Gly746=) c.2157C>A (p.Gly719=) c.2106C>A (p.Gly702=) | |
14 | g.33800395C= | CA2128327363 | NPAS3 | c.2088C= (p.Gly696=) c.2097C= (p.Gly699=) c.1988C= c.793+2814C= c.1992C= (p.Gly664=) c.2049C= (p.Gly683=) c.1998C= (p.Gly666=) c.2103C= (p.Gly701=) c.2010C= (p.Gly670=) c.2109C= (p.Gly703=) c.2139C= (p.Gly713=) c.2130C= (p.Gly710=) c.2100C= (p.Gly700=) c.2043C= (p.Gly681=) c.1989C= (p.Gly663=) c.1782C= (p.Gly594=) c.2196C= (p.Gly732=) c.2190C= (p.Gly730=) c.2187C= (p.Gly729=) c.2247C= (p.Gly749=) c.2238C= (p.Gly746=) c.2157C= (p.Gly719=) c.2106C= (p.Gly702=) | |
14 | g.33800395C>G | CA486093093 | NPAS3 | c.2088C>G (p.Gly696=) c.2097C>G (p.Gly699=) c.1988C>G c.793+2814C>G c.1992C>G (p.Gly664=) c.2049C>G (p.Gly683=) c.1998C>G (p.Gly666=) c.2103C>G (p.Gly701=) c.2010C>G (p.Gly670=) c.2109C>G (p.Gly703=) c.2139C>G (p.Gly713=) c.2130C>G (p.Gly710=) c.2100C>G (p.Gly700=) c.2043C>G (p.Gly681=) c.1989C>G (p.Gly663=) c.1782C>G (p.Gly594=) c.2196C>G (p.Gly732=) c.2190C>G (p.Gly730=) c.2187C>G (p.Gly729=) c.2247C>G (p.Gly749=) c.2238C>G (p.Gly746=) c.2157C>G (p.Gly719=) c.2106C>G (p.Gly702=) | gnomAD v4 |
14 | g.33800395C>T | CA7150934 | NPAS3 | c.2088C>T (p.Gly696=) c.2097C>T (p.Gly699=) c.1988C>T c.793+2814C>T c.1992C>T (p.Gly664=) c.2049C>T (p.Gly683=) c.1998C>T (p.Gly666=) c.2103C>T (p.Gly701=) c.2010C>T (p.Gly670=) c.2109C>T (p.Gly703=) c.2139C>T (p.Gly713=) c.2130C>T (p.Gly710=) c.2100C>T (p.Gly700=) c.2043C>T (p.Gly681=) c.1989C>T (p.Gly663=) c.1782C>T (p.Gly594=) c.2196C>T (p.Gly732=) c.2190C>T (p.Gly730=) c.2187C>T (p.Gly729=) c.2247C>T (p.Gly749=) c.2238C>T (p.Gly746=) c.2157C>T (p.Gly719=) c.2106C>T (p.Gly702=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800396G>A | CA7150935 | NPAS3 | c.2089G>A (p.Gly697Ser) c.2098G>A (p.Gly700Ser) c.1989G>A c.793+2815G>A c.1993G>A (p.Gly665Ser) c.2050G>A (p.Gly684Ser) c.1999G>A (p.Gly667Ser) c.2104G>A (p.Gly702Ser) c.2011G>A (p.Gly671Ser) c.2110G>A (p.Gly704Ser) c.2140G>A (p.Gly714Ser) c.2131G>A (p.Gly711Ser) c.2101G>A (p.Gly701Ser) c.2044G>A (p.Gly682Ser) c.1990G>A (p.Gly664Ser) c.1783G>A (p.Gly595Ser) c.2197G>A (p.Gly733Ser) c.2191G>A (p.Gly731Ser) c.2188G>A (p.Gly730Ser) c.2248G>A (p.Gly750Ser) c.2239G>A (p.Gly747Ser) c.2158G>A (p.Gly720Ser) c.2107G>A (p.Gly703Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800396G>C | CA389413865 | NPAS3 | c.2089G>C (p.Gly697Arg) c.2098G>C (p.Gly700Arg) c.1989G>C c.793+2815G>C c.1993G>C (p.Gly665Arg) c.2050G>C (p.Gly684Arg) c.1999G>C (p.Gly667Arg) c.2104G>C (p.Gly702Arg) c.2011G>C (p.Gly671Arg) c.2110G>C (p.Gly704Arg) c.2140G>C (p.Gly714Arg) c.2131G>C (p.Gly711Arg) c.2101G>C (p.Gly701Arg) c.2044G>C (p.Gly682Arg) c.1990G>C (p.Gly664Arg) c.1783G>C (p.Gly595Arg) c.2197G>C (p.Gly733Arg) c.2191G>C (p.Gly731Arg) c.2188G>C (p.Gly730Arg) c.2248G>C (p.Gly750Arg) c.2239G>C (p.Gly747Arg) c.2158G>C (p.Gly720Arg) c.2107G>C (p.Gly703Arg) | |
14 | g.33800396G= | CA2128327366 | NPAS3 | c.2089G= (p.Gly697=) c.2098G= (p.Gly700=) c.1989G= c.793+2815G= c.1993G= (p.Gly665=) c.2050G= (p.Gly684=) c.1999G= (p.Gly667=) c.2104G= (p.Gly702=) c.2011G= (p.Gly671=) c.2110G= (p.Gly704=) c.2140G= (p.Gly714=) c.2131G= (p.Gly711=) c.2101G= (p.Gly701=) c.2044G= (p.Gly682=) c.1990G= (p.Gly664=) c.1783G= (p.Gly595=) c.2197G= (p.Gly733=) c.2191G= (p.Gly731=) c.2188G= (p.Gly730=) c.2248G= (p.Gly750=) c.2239G= (p.Gly747=) c.2158G= (p.Gly720=) c.2107G= (p.Gly703=) | |
14 | g.33800396G>T | CA389413867 | NPAS3 | c.2089G>T (p.Gly697Cys) c.2098G>T (p.Gly700Cys) c.1989G>T c.793+2815G>T c.1993G>T (p.Gly665Cys) c.2050G>T (p.Gly684Cys) c.1999G>T (p.Gly667Cys) c.2104G>T (p.Gly702Cys) c.2011G>T (p.Gly671Cys) c.2110G>T (p.Gly704Cys) c.2140G>T (p.Gly714Cys) c.2131G>T (p.Gly711Cys) c.2101G>T (p.Gly701Cys) c.2044G>T (p.Gly682Cys) c.1990G>T (p.Gly664Cys) c.1783G>T (p.Gly595Cys) c.2197G>T (p.Gly733Cys) c.2191G>T (p.Gly731Cys) c.2188G>T (p.Gly730Cys) c.2248G>T (p.Gly750Cys) c.2239G>T (p.Gly747Cys) c.2158G>T (p.Gly720Cys) c.2107G>T (p.Gly703Cys) | gnomAD v4 |
14 | g.33800397G>A | CA389413869 | NPAS3 | c.2090G>A (p.Gly697Asp) c.2099G>A (p.Gly700Asp) c.1990G>A c.793+2816G>A c.1994G>A (p.Gly665Asp) c.2051G>A (p.Gly684Asp) c.2000G>A (p.Gly667Asp) c.2105G>A (p.Gly702Asp) c.2012G>A (p.Gly671Asp) c.2111G>A (p.Gly704Asp) c.2141G>A (p.Gly714Asp) c.2132G>A (p.Gly711Asp) c.2102G>A (p.Gly701Asp) c.2045G>A (p.Gly682Asp) c.1991G>A (p.Gly664Asp) c.1784G>A (p.Gly595Asp) c.2198G>A (p.Gly733Asp) c.2192G>A (p.Gly731Asp) c.2189G>A (p.Gly730Asp) c.2249G>A (p.Gly750Asp) c.2240G>A (p.Gly747Asp) c.2159G>A (p.Gly720Asp) c.2108G>A (p.Gly703Asp) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800397G>C | CA389413871 | NPAS3 | c.2090G>C (p.Gly697Ala) c.2099G>C (p.Gly700Ala) c.1990G>C c.793+2816G>C c.1994G>C (p.Gly665Ala) c.2051G>C (p.Gly684Ala) c.2000G>C (p.Gly667Ala) c.2105G>C (p.Gly702Ala) c.2012G>C (p.Gly671Ala) c.2111G>C (p.Gly704Ala) c.2141G>C (p.Gly714Ala) c.2132G>C (p.Gly711Ala) c.2102G>C (p.Gly701Ala) c.2045G>C (p.Gly682Ala) c.1991G>C (p.Gly664Ala) c.1784G>C (p.Gly595Ala) c.2198G>C (p.Gly733Ala) c.2192G>C (p.Gly731Ala) c.2189G>C (p.Gly730Ala) c.2249G>C (p.Gly750Ala) c.2240G>C (p.Gly747Ala) c.2159G>C (p.Gly720Ala) c.2108G>C (p.Gly703Ala) | |
14 | g.33800397G= | CA2128327369 | NPAS3 | c.2090G= (p.Gly697=) c.2099G= (p.Gly700=) c.1990G= c.793+2816G= c.1994G= (p.Gly665=) c.2051G= (p.Gly684=) c.2000G= (p.Gly667=) c.2105G= (p.Gly702=) c.2012G= (p.Gly671=) c.2111G= (p.Gly704=) c.2141G= (p.Gly714=) c.2132G= (p.Gly711=) c.2102G= (p.Gly701=) c.2045G= (p.Gly682=) c.1991G= (p.Gly664=) c.1784G= (p.Gly595=) c.2198G= (p.Gly733=) c.2192G= (p.Gly731=) c.2189G= (p.Gly730=) c.2249G= (p.Gly750=) c.2240G= (p.Gly747=) c.2159G= (p.Gly720=) c.2108G= (p.Gly703=) | |
14 | g.33800397G>T | CA389413873 | NPAS3 | c.2090G>T (p.Gly697Val) c.2099G>T (p.Gly700Val) c.1990G>T c.793+2816G>T c.1994G>T (p.Gly665Val) c.2051G>T (p.Gly684Val) c.2000G>T (p.Gly667Val) c.2105G>T (p.Gly702Val) c.2012G>T (p.Gly671Val) c.2111G>T (p.Gly704Val) c.2141G>T (p.Gly714Val) c.2132G>T (p.Gly711Val) c.2102G>T (p.Gly701Val) c.2045G>T (p.Gly682Val) c.1991G>T (p.Gly664Val) c.1784G>T (p.Gly595Val) c.2198G>T (p.Gly733Val) c.2192G>T (p.Gly731Val) c.2189G>T (p.Gly730Val) c.2249G>T (p.Gly750Val) c.2240G>T (p.Gly747Val) c.2159G>T (p.Gly720Val) c.2108G>T (p.Gly703Val) | |
14 | g.33800398C>A | CA486093097 | NPAS3 | c.2091C>A (p.Gly697=) c.2100C>A (p.Gly700=) c.1991C>A c.793+2817C>A c.1995C>A (p.Gly665=) c.2052C>A (p.Gly684=) c.2001C>A (p.Gly667=) c.2106C>A (p.Gly702=) c.2013C>A (p.Gly671=) c.2112C>A (p.Gly704=) c.2142C>A (p.Gly714=) c.2133C>A (p.Gly711=) c.2103C>A (p.Gly701=) c.2046C>A (p.Gly682=) c.1992C>A (p.Gly664=) c.1785C>A (p.Gly595=) c.2199C>A (p.Gly733=) c.2193C>A (p.Gly731=) c.2190C>A (p.Gly730=) c.2250C>A (p.Gly750=) c.2241C>A (p.Gly747=) c.2160C>A (p.Gly720=) c.2109C>A (p.Gly703=) | gnomAD v4 |
14 | g.33800398C= | CA2128327372 | NPAS3 | c.2091C= (p.Gly697=) c.2100C= (p.Gly700=) c.1991C= c.793+2817C= c.1995C= (p.Gly665=) c.2052C= (p.Gly684=) c.2001C= (p.Gly667=) c.2106C= (p.Gly702=) c.2013C= (p.Gly671=) c.2112C= (p.Gly704=) c.2142C= (p.Gly714=) c.2133C= (p.Gly711=) c.2103C= (p.Gly701=) c.2046C= (p.Gly682=) c.1992C= (p.Gly664=) c.1785C= (p.Gly595=) c.2199C= (p.Gly733=) c.2193C= (p.Gly731=) c.2190C= (p.Gly730=) c.2250C= (p.Gly750=) c.2241C= (p.Gly747=) c.2160C= (p.Gly720=) c.2109C= (p.Gly703=) | |
14 | g.33800398C>G | CA486093098 | NPAS3 | c.2091C>G (p.Gly697=) c.2100C>G (p.Gly700=) c.1991C>G c.793+2817C>G c.1995C>G (p.Gly665=) c.2052C>G (p.Gly684=) c.2001C>G (p.Gly667=) c.2106C>G (p.Gly702=) c.2013C>G (p.Gly671=) c.2112C>G (p.Gly704=) c.2142C>G (p.Gly714=) c.2133C>G (p.Gly711=) c.2103C>G (p.Gly701=) c.2046C>G (p.Gly682=) c.1992C>G (p.Gly664=) c.1785C>G (p.Gly595=) c.2199C>G (p.Gly733=) c.2193C>G (p.Gly731=) c.2190C>G (p.Gly730=) c.2250C>G (p.Gly750=) c.2241C>G (p.Gly747=) c.2160C>G (p.Gly720=) c.2109C>G (p.Gly703=) | gnomAD v4 |
14 | g.33800398C>T | CA486093099 | NPAS3 | c.2091C>T (p.Gly697=) c.2100C>T (p.Gly700=) c.1991C>T c.793+2817C>T c.1995C>T (p.Gly665=) c.2052C>T (p.Gly684=) c.2001C>T (p.Gly667=) c.2106C>T (p.Gly702=) c.2013C>T (p.Gly671=) c.2112C>T (p.Gly704=) c.2142C>T (p.Gly714=) c.2133C>T (p.Gly711=) c.2103C>T (p.Gly701=) c.2046C>T (p.Gly682=) c.1992C>T (p.Gly664=) c.1785C>T (p.Gly595=) c.2199C>T (p.Gly733=) c.2193C>T (p.Gly731=) c.2190C>T (p.Gly730=) c.2250C>T (p.Gly750=) c.2241C>T (p.Gly747=) c.2160C>T (p.Gly720=) c.2109C>T (p.Gly703=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800399G>A | CA389413875 | NPAS3 | c.2092G>A (p.Gly698Ser) c.2101G>A (p.Gly701Ser) c.1992G>A c.793+2818G>A c.1996G>A (p.Gly666Ser) c.2053G>A (p.Gly685Ser) c.2002G>A (p.Gly668Ser) c.2107G>A (p.Gly703Ser) c.2014G>A (p.Gly672Ser) c.2113G>A (p.Gly705Ser) c.2143G>A (p.Gly715Ser) c.2134G>A (p.Gly712Ser) c.2104G>A (p.Gly702Ser) c.2047G>A (p.Gly683Ser) c.1993G>A (p.Gly665Ser) c.1786G>A (p.Gly596Ser) c.2200G>A (p.Gly734Ser) c.2194G>A (p.Gly732Ser) c.2191G>A (p.Gly731Ser) c.2251G>A (p.Gly751Ser) c.2242G>A (p.Gly748Ser) c.2161G>A (p.Gly721Ser) c.2110G>A (p.Gly704Ser) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800399G>C | CA389413876 | NPAS3 | c.2092G>C (p.Gly698Arg) c.2101G>C (p.Gly701Arg) c.1992G>C c.793+2818G>C c.1996G>C (p.Gly666Arg) c.2053G>C (p.Gly685Arg) c.2002G>C (p.Gly668Arg) c.2107G>C (p.Gly703Arg) c.2014G>C (p.Gly672Arg) c.2113G>C (p.Gly705Arg) c.2143G>C (p.Gly715Arg) c.2134G>C (p.Gly712Arg) c.2104G>C (p.Gly702Arg) c.2047G>C (p.Gly683Arg) c.1993G>C (p.Gly665Arg) c.1786G>C (p.Gly596Arg) c.2200G>C (p.Gly734Arg) c.2194G>C (p.Gly732Arg) c.2191G>C (p.Gly731Arg) c.2251G>C (p.Gly751Arg) c.2242G>C (p.Gly748Arg) c.2161G>C (p.Gly721Arg) c.2110G>C (p.Gly704Arg) | |
14 | g.33800399G= | CA2128327375 | NPAS3 | c.2092G= (p.Gly698=) c.2101G= (p.Gly701=) c.1992G= c.793+2818G= c.1996G= (p.Gly666=) c.2053G= (p.Gly685=) c.2002G= (p.Gly668=) c.2107G= (p.Gly703=) c.2014G= (p.Gly672=) c.2113G= (p.Gly705=) c.2143G= (p.Gly715=) c.2134G= (p.Gly712=) c.2104G= (p.Gly702=) c.2047G= (p.Gly683=) c.1993G= (p.Gly665=) c.1786G= (p.Gly596=) c.2200G= (p.Gly734=) c.2194G= (p.Gly732=) c.2191G= (p.Gly731=) c.2251G= (p.Gly751=) c.2242G= (p.Gly748=) c.2161G= (p.Gly721=) c.2110G= (p.Gly704=) | |
14 | g.33800399G>T | CA389413878 | NPAS3 | c.2092G>T (p.Gly698Cys) c.2101G>T (p.Gly701Cys) c.1992G>T c.793+2818G>T c.1996G>T (p.Gly666Cys) c.2053G>T (p.Gly685Cys) c.2002G>T (p.Gly668Cys) c.2107G>T (p.Gly703Cys) c.2014G>T (p.Gly672Cys) c.2113G>T (p.Gly705Cys) c.2143G>T (p.Gly715Cys) c.2134G>T (p.Gly712Cys) c.2104G>T (p.Gly702Cys) c.2047G>T (p.Gly683Cys) c.1993G>T (p.Gly665Cys) c.1786G>T (p.Gly596Cys) c.2200G>T (p.Gly734Cys) c.2194G>T (p.Gly732Cys) c.2191G>T (p.Gly731Cys) c.2251G>T (p.Gly751Cys) c.2242G>T (p.Gly748Cys) c.2161G>T (p.Gly721Cys) c.2110G>T (p.Gly704Cys) | |
14 | g.33800400del | CA2564778018 | NPAS3 | c.2093del (p.Gly698AlafsTer?) c.2102del (p.Gly701AlafsTer?) c.1993del c.793+2819del c.1997del (p.Gly666AlafsTer?) c.2054del (p.Gly685AlafsTer?) c.2003del (p.Gly668AlafsTer?) c.2108del (p.Gly703AlafsTer?) c.2015del (p.Gly672AlafsTer?) c.2114del (p.Gly705AlafsTer?) c.2144del (p.Gly715AlafsTer?) c.2135del (p.Gly712AlafsTer?) c.2105del (p.Gly702AlafsTer?) c.2048del (p.Gly683AlafsTer?) c.1994del (p.Gly665AlafsTer?) c.1787del (p.Gly596AlafsTer?) c.2201del (p.Gly734AlafsTer?) c.2195del (p.Gly732AlafsTer?) c.2192del (p.Gly731AlafsTer?) c.2252del (p.Gly751AlafsTer?) c.2243del (p.Gly748AlafsTer?) c.2162del (p.Gly721AlafsTer?) c.2111del (p.Gly704AlafsTer?) | |
14 | g.33800407_33800418del | CA2575504025 | NPAS3 | c.2100_2111del (p.Gly701_Gly704del) c.2109_2120del (p.Gly704_Gly707del) c.2000_2011del c.793+2826_793+2837del c.2004_2015del (p.Gly669_Gly672del) c.2061_2072del (p.Gly688_Gly691del) c.2010_2021del (p.Gly671_Gly674del) c.2115_2126del (p.Gly706_Gly709del) c.2022_2033del (p.Gly675_Gly678del) c.2121_2132del (p.Gly708_Gly711del) c.2151_2162del (p.Gly718_Gly721del) c.2142_2153del (p.Gly715_Gly718del) c.2112_2123del (p.Gly705_Gly708del) c.2055_2066del (p.Gly686_Gly689del) c.2001_2012del (p.Gly668_Gly671del) c.1794_1805del (p.Gly599_Gly602del) c.2208_2219del (p.Gly737_Gly740del) c.2202_2213del (p.Gly735_Gly738del) c.2199_2210del (p.Gly734_Gly737del) c.2259_2270del (p.Gly754_Gly757del) c.2250_2261del (p.Gly751_Gly754del) c.2169_2180del (p.Gly724_Gly727del) c.2118_2129del (p.Gly707_Gly710del) | gnomAD v4 |
14 | g.33800400G>A | CA258719101 | NPAS3 | c.2093G>A (p.Gly698Asp) c.2102G>A (p.Gly701Asp) c.1993G>A c.793+2819G>A c.1997G>A (p.Gly666Asp) c.2054G>A (p.Gly685Asp) c.2003G>A (p.Gly668Asp) c.2108G>A (p.Gly703Asp) c.2015G>A (p.Gly672Asp) c.2114G>A (p.Gly705Asp) c.2144G>A (p.Gly715Asp) c.2135G>A (p.Gly712Asp) c.2105G>A (p.Gly702Asp) c.2048G>A (p.Gly683Asp) c.1994G>A (p.Gly665Asp) c.1787G>A (p.Gly596Asp) c.2201G>A (p.Gly734Asp) c.2195G>A (p.Gly732Asp) c.2192G>A (p.Gly731Asp) c.2252G>A (p.Gly751Asp) c.2243G>A (p.Gly748Asp) c.2162G>A (p.Gly721Asp) c.2111G>A (p.Gly704Asp) | dbSNP gnomAD v4 |
14 | g.33800400G>C | CA389413883 | NPAS3 | c.2093G>C (p.Gly698Ala) c.2102G>C (p.Gly701Ala) c.1993G>C c.793+2819G>C c.1997G>C (p.Gly666Ala) c.2054G>C (p.Gly685Ala) c.2003G>C (p.Gly668Ala) c.2108G>C (p.Gly703Ala) c.2015G>C (p.Gly672Ala) c.2114G>C (p.Gly705Ala) c.2144G>C (p.Gly715Ala) c.2135G>C (p.Gly712Ala) c.2105G>C (p.Gly702Ala) c.2048G>C (p.Gly683Ala) c.1994G>C (p.Gly665Ala) c.1787G>C (p.Gly596Ala) c.2201G>C (p.Gly734Ala) c.2195G>C (p.Gly732Ala) c.2192G>C (p.Gly731Ala) c.2252G>C (p.Gly751Ala) c.2243G>C (p.Gly748Ala) c.2162G>C (p.Gly721Ala) c.2111G>C (p.Gly704Ala) | |
14 | g.33800400G= | CA2128327381 | NPAS3 | c.2093G= (p.Gly698=) c.2102G= (p.Gly701=) c.1993G= c.793+2819G= c.1997G= (p.Gly666=) c.2054G= (p.Gly685=) c.2003G= (p.Gly668=) c.2108G= (p.Gly703=) c.2015G= (p.Gly672=) c.2114G= (p.Gly705=) c.2144G= (p.Gly715=) c.2135G= (p.Gly712=) c.2105G= (p.Gly702=) c.2048G= (p.Gly683=) c.1994G= (p.Gly665=) c.1787G= (p.Gly596=) c.2201G= (p.Gly734=) c.2195G= (p.Gly732=) c.2192G= (p.Gly731=) c.2252G= (p.Gly751=) c.2243G= (p.Gly748=) c.2162G= (p.Gly721=) c.2111G= (p.Gly704=) | |
14 | g.33800400G>T | CA389413881 | NPAS3 | c.2093G>T (p.Gly698Val) c.2102G>T (p.Gly701Val) c.1993G>T c.793+2819G>T c.1997G>T (p.Gly666Val) c.2054G>T (p.Gly685Val) c.2003G>T (p.Gly668Val) c.2108G>T (p.Gly703Val) c.2015G>T (p.Gly672Val) c.2114G>T (p.Gly705Val) c.2144G>T (p.Gly715Val) c.2135G>T (p.Gly712Val) c.2105G>T (p.Gly702Val) c.2048G>T (p.Gly683Val) c.1994G>T (p.Gly665Val) c.1787G>T (p.Gly596Val) c.2201G>T (p.Gly734Val) c.2195G>T (p.Gly732Val) c.2192G>T (p.Gly731Val) c.2252G>T (p.Gly751Val) c.2243G>T (p.Gly748Val) c.2162G>T (p.Gly721Val) c.2111G>T (p.Gly704Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800401C>A | CA486093102 | NPAS3 | c.2094C>A (p.Gly698=) c.2103C>A (p.Gly701=) c.1994C>A c.793+2820C>A c.1998C>A (p.Gly666=) c.2055C>A (p.Gly685=) c.2004C>A (p.Gly668=) c.2109C>A (p.Gly703=) c.2016C>A (p.Gly672=) c.2115C>A (p.Gly705=) c.2145C>A (p.Gly715=) c.2136C>A (p.Gly712=) c.2106C>A (p.Gly702=) c.2049C>A (p.Gly683=) c.1995C>A (p.Gly665=) c.1788C>A (p.Gly596=) c.2202C>A (p.Gly734=) c.2196C>A (p.Gly732=) c.2193C>A (p.Gly731=) c.2253C>A (p.Gly751=) c.2244C>A (p.Gly748=) c.2163C>A (p.Gly721=) c.2112C>A (p.Gly704=) | gnomAD v4 |
14 | g.33800401C= | CA2128327387 | NPAS3 | c.2094C= (p.Gly698=) c.2103C= (p.Gly701=) c.1994C= c.793+2820C= c.1998C= (p.Gly666=) c.2055C= (p.Gly685=) c.2004C= (p.Gly668=) c.2109C= (p.Gly703=) c.2016C= (p.Gly672=) c.2115C= (p.Gly705=) c.2145C= (p.Gly715=) c.2136C= (p.Gly712=) c.2106C= (p.Gly702=) c.2049C= (p.Gly683=) c.1995C= (p.Gly665=) c.1788C= (p.Gly596=) c.2202C= (p.Gly734=) c.2196C= (p.Gly732=) c.2193C= (p.Gly731=) c.2253C= (p.Gly751=) c.2244C= (p.Gly748=) c.2163C= (p.Gly721=) c.2112C= (p.Gly704=) | |
14 | g.33800401C>G | CA486093103 | NPAS3 | c.2094C>G (p.Gly698=) c.2103C>G (p.Gly701=) c.1994C>G c.793+2820C>G c.1998C>G (p.Gly666=) c.2055C>G (p.Gly685=) c.2004C>G (p.Gly668=) c.2109C>G (p.Gly703=) c.2016C>G (p.Gly672=) c.2115C>G (p.Gly705=) c.2145C>G (p.Gly715=) c.2136C>G (p.Gly712=) c.2106C>G (p.Gly702=) c.2049C>G (p.Gly683=) c.1995C>G (p.Gly665=) c.1788C>G (p.Gly596=) c.2202C>G (p.Gly734=) c.2196C>G (p.Gly732=) c.2193C>G (p.Gly731=) c.2253C>G (p.Gly751=) c.2244C>G (p.Gly748=) c.2163C>G (p.Gly721=) c.2112C>G (p.Gly704=) | gnomAD v4 |
14 | g.33800401C>T | CA7150936 | NPAS3 | c.2094C>T (p.Gly698=) c.2103C>T (p.Gly701=) c.1994C>T c.793+2820C>T c.1998C>T (p.Gly666=) c.2055C>T (p.Gly685=) c.2004C>T (p.Gly668=) c.2109C>T (p.Gly703=) c.2016C>T (p.Gly672=) c.2115C>T (p.Gly705=) c.2145C>T (p.Gly715=) c.2136C>T (p.Gly712=) c.2106C>T (p.Gly702=) c.2049C>T (p.Gly683=) c.1995C>T (p.Gly665=) c.1788C>T (p.Gly596=) c.2202C>T (p.Gly734=) c.2196C>T (p.Gly732=) c.2193C>T (p.Gly731=) c.2253C>T (p.Gly751=) c.2244C>T (p.Gly748=) c.2163C>T (p.Gly721=) c.2112C>T (p.Gly704=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800402G>A | CA389413885 | NPAS3 | c.2095G>A (p.Gly699Ser) c.2104G>A (p.Gly702Ser) c.1995G>A c.793+2821G>A c.1999G>A (p.Gly667Ser) c.2056G>A (p.Gly686Ser) c.2005G>A (p.Gly669Ser) c.2110G>A (p.Gly704Ser) c.2017G>A (p.Gly673Ser) c.2116G>A (p.Gly706Ser) c.2146G>A (p.Gly716Ser) c.2137G>A (p.Gly713Ser) c.2107G>A (p.Gly703Ser) c.2050G>A (p.Gly684Ser) c.1996G>A (p.Gly666Ser) c.1789G>A (p.Gly597Ser) c.2203G>A (p.Gly735Ser) c.2197G>A (p.Gly733Ser) c.2194G>A (p.Gly732Ser) c.2254G>A (p.Gly752Ser) c.2245G>A (p.Gly749Ser) c.2164G>A (p.Gly722Ser) c.2113G>A (p.Gly705Ser) | |
14 | g.33800402G>C | CA389413887 | NPAS3 | c.2095G>C (p.Gly699Arg) c.2104G>C (p.Gly702Arg) c.1995G>C c.793+2821G>C c.1999G>C (p.Gly667Arg) c.2056G>C (p.Gly686Arg) c.2005G>C (p.Gly669Arg) c.2110G>C (p.Gly704Arg) c.2017G>C (p.Gly673Arg) c.2116G>C (p.Gly706Arg) c.2146G>C (p.Gly716Arg) c.2137G>C (p.Gly713Arg) c.2107G>C (p.Gly703Arg) c.2050G>C (p.Gly684Arg) c.1996G>C (p.Gly666Arg) c.1789G>C (p.Gly597Arg) c.2203G>C (p.Gly735Arg) c.2197G>C (p.Gly733Arg) c.2194G>C (p.Gly732Arg) c.2254G>C (p.Gly752Arg) c.2245G>C (p.Gly749Arg) c.2164G>C (p.Gly722Arg) c.2113G>C (p.Gly705Arg) | gnomAD v4 |
14 | g.33800402G= | CA2128327392 | NPAS3 | c.2095G= (p.Gly699=) c.2104G= (p.Gly702=) c.1995G= c.793+2821G= c.1999G= (p.Gly667=) c.2056G= (p.Gly686=) c.2005G= (p.Gly669=) c.2110G= (p.Gly704=) c.2017G= (p.Gly673=) c.2116G= (p.Gly706=) c.2146G= (p.Gly716=) c.2137G= (p.Gly713=) c.2107G= (p.Gly703=) c.2050G= (p.Gly684=) c.1996G= (p.Gly666=) c.1789G= (p.Gly597=) c.2203G= (p.Gly735=) c.2197G= (p.Gly733=) c.2194G= (p.Gly732=) c.2254G= (p.Gly752=) c.2245G= (p.Gly749=) c.2164G= (p.Gly722=) c.2113G= (p.Gly705=) | |
14 | g.33800402G>T | CA389413889 | NPAS3 | c.2095G>T (p.Gly699Cys) c.2104G>T (p.Gly702Cys) c.1995G>T c.793+2821G>T c.1999G>T (p.Gly667Cys) c.2056G>T (p.Gly686Cys) c.2005G>T (p.Gly669Cys) c.2110G>T (p.Gly704Cys) c.2017G>T (p.Gly673Cys) c.2116G>T (p.Gly706Cys) c.2146G>T (p.Gly716Cys) c.2137G>T (p.Gly713Cys) c.2107G>T (p.Gly703Cys) c.2050G>T (p.Gly684Cys) c.1996G>T (p.Gly666Cys) c.1789G>T (p.Gly597Cys) c.2203G>T (p.Gly735Cys) c.2197G>T (p.Gly733Cys) c.2194G>T (p.Gly732Cys) c.2254G>T (p.Gly752Cys) c.2245G>T (p.Gly749Cys) c.2164G>T (p.Gly722Cys) c.2113G>T (p.Gly705Cys) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800403dup | CA2801126436 | NPAS3 | c.2096dup (p.Gly700TrpfsTer?) c.2105dup (p.Gly703TrpfsTer?) c.1996dup c.793+2822dup c.2000dup (p.Gly668TrpfsTer?) c.2057dup (p.Gly687TrpfsTer?) c.2006dup (p.Gly670TrpfsTer?) c.2111dup (p.Gly705TrpfsTer?) c.2018dup (p.Gly674TrpfsTer?) c.2117dup (p.Gly707TrpfsTer?) c.2147dup (p.Gly717TrpfsTer?) c.2138dup (p.Gly714TrpfsTer?) c.2108dup (p.Gly704TrpfsTer?) c.2051dup (p.Gly685TrpfsTer?) c.1997dup (p.Gly667TrpfsTer?) c.1790dup (p.Gly598TrpfsTer?) c.2204dup (p.Gly736TrpfsTer?) c.2198dup (p.Gly734TrpfsTer?) c.2195dup (p.Gly733TrpfsTer?) c.2255dup (p.Gly753TrpfsTer?) c.2246dup (p.Gly750TrpfsTer?) c.2165dup (p.Gly723TrpfsTer?) c.2114dup (p.Gly706TrpfsTer?) | |
14 | g.33800402_33800403dup | CA2801126437 | NPAS3 | c.2095_2096dup (p.Gly700ValfsTer?) c.2104_2105dup (p.Gly703ValfsTer?) c.1995_1996dup c.793+2821_793+2822dup c.1999_2000dup (p.Gly668ValfsTer?) c.2056_2057dup (p.Gly687ValfsTer?) c.2005_2006dup (p.Gly670ValfsTer?) c.2110_2111dup (p.Gly705ValfsTer?) c.2017_2018dup (p.Gly674ValfsTer?) c.2116_2117dup (p.Gly707ValfsTer?) c.2146_2147dup (p.Gly717ValfsTer?) c.2137_2138dup (p.Gly714ValfsTer?) c.2107_2108dup (p.Gly704ValfsTer?) c.2050_2051dup (p.Gly685ValfsTer?) c.1996_1997dup (p.Gly667ValfsTer?) c.1789_1790dup (p.Gly598ValfsTer?) c.2203_2204dup (p.Gly736ValfsTer?) c.2197_2198dup (p.Gly734ValfsTer?) c.2194_2195dup (p.Gly733ValfsTer?) c.2254_2255dup (p.Gly753ValfsTer?) c.2245_2246dup (p.Gly750ValfsTer?) c.2164_2165dup (p.Gly723ValfsTer?) c.2113_2114dup (p.Gly706ValfsTer?) | |
14 | g.33800407_33800412dup | CA7150937 | NPAS3 | c.2100_2105dup (p.Gly702_Gly703insGlyGly) c.2109_2114dup (p.Gly705_Gly706insGlyGly) c.2000_2005dup c.793+2826_793+2831dup c.2004_2009dup (p.Gly670_Gly671insGlyGly) c.2061_2066dup (p.Gly689_Gly690insGlyGly) c.2010_2015dup (p.Gly672_Gly673insGlyGly) c.2115_2120dup (p.Gly707_Gly708insGlyGly) c.2022_2027dup (p.Gly676_Gly677insGlyGly) c.2121_2126dup (p.Gly709_Gly710insGlyGly) c.2151_2156dup (p.Gly719_Gly720insGlyGly) c.2142_2147dup (p.Gly716_Gly717insGlyGly) c.2112_2117dup (p.Gly706_Gly707insGlyGly) c.2055_2060dup (p.Gly687_Gly688insGlyGly) c.2001_2006dup (p.Gly669_Gly670insGlyGly) c.1794_1799dup (p.Gly600_Gly601insGlyGly) c.2208_2213dup (p.Gly738_Gly739insGlyGly) c.2202_2207dup (p.Gly736_Gly737insGlyGly) c.2199_2204dup (p.Gly735_Gly736insGlyGly) c.2259_2264dup (p.Gly755_Gly756insGlyGly) c.2250_2255dup (p.Gly752_Gly753insGlyGly) c.2169_2174dup (p.Gly725_Gly726insGlyGly) c.2118_2123dup (p.Gly708_Gly709insGlyGly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800407_33800412del | CA2624512032 | NPAS3 | c.2100_2105del (p.Gly701_Gly702del) c.2109_2114del (p.Gly704_Gly705del) c.2000_2005del c.793+2826_793+2831del c.2004_2009del (p.Gly669_Gly670del) c.2061_2066del (p.Gly688_Gly689del) c.2010_2015del (p.Gly671_Gly672del) c.2115_2120del (p.Gly706_Gly707del) c.2022_2027del (p.Gly675_Gly676del) c.2121_2126del (p.Gly708_Gly709del) c.2151_2156del (p.Gly718_Gly719del) c.2142_2147del (p.Gly715_Gly716del) c.2112_2117del (p.Gly705_Gly706del) c.2055_2060del (p.Gly686_Gly687del) c.2001_2006del (p.Gly668_Gly669del) c.1794_1799del (p.Gly599_Gly600del) c.2208_2213del (p.Gly737_Gly738del) c.2202_2207del (p.Gly735_Gly736del) c.2199_2204del (p.Gly734_Gly735del) c.2259_2264del (p.Gly754_Gly755del) c.2250_2255del (p.Gly751_Gly752del) c.2169_2174del (p.Gly724_Gly725del) c.2118_2123del (p.Gly707_Gly708del) | gnomAD v4 |
14 | g.33800403G>A | CA389413891 | NPAS3 | c.2096G>A (p.Gly699Asp) c.2105G>A (p.Gly702Asp) c.1996G>A c.793+2822G>A c.2000G>A (p.Gly667Asp) c.2057G>A (p.Gly686Asp) c.2006G>A (p.Gly669Asp) c.2111G>A (p.Gly704Asp) c.2018G>A (p.Gly673Asp) c.2117G>A (p.Gly706Asp) c.2147G>A (p.Gly716Asp) c.2138G>A (p.Gly713Asp) c.2108G>A (p.Gly703Asp) c.2051G>A (p.Gly684Asp) c.1997G>A (p.Gly666Asp) c.1790G>A (p.Gly597Asp) c.2204G>A (p.Gly735Asp) c.2198G>A (p.Gly733Asp) c.2195G>A (p.Gly732Asp) c.2255G>A (p.Gly752Asp) c.2246G>A (p.Gly749Asp) c.2165G>A (p.Gly722Asp) c.2114G>A (p.Gly705Asp) | gnomAD v4 |
14 | g.33800403G>C | CA389413893 | NPAS3 | c.2096G>C (p.Gly699Ala) c.2105G>C (p.Gly702Ala) c.1996G>C c.793+2822G>C c.2000G>C (p.Gly667Ala) c.2057G>C (p.Gly686Ala) c.2006G>C (p.Gly669Ala) c.2111G>C (p.Gly704Ala) c.2018G>C (p.Gly673Ala) c.2117G>C (p.Gly706Ala) c.2147G>C (p.Gly716Ala) c.2138G>C (p.Gly713Ala) c.2108G>C (p.Gly703Ala) c.2051G>C (p.Gly684Ala) c.1997G>C (p.Gly666Ala) c.1790G>C (p.Gly597Ala) c.2204G>C (p.Gly735Ala) c.2198G>C (p.Gly733Ala) c.2195G>C (p.Gly732Ala) c.2255G>C (p.Gly752Ala) c.2246G>C (p.Gly749Ala) c.2165G>C (p.Gly722Ala) c.2114G>C (p.Gly705Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800403G= | CA2128327395 | NPAS3 | c.2096G= (p.Gly699=) c.2105G= (p.Gly702=) c.1996G= c.793+2822G= c.2000G= (p.Gly667=) c.2057G= (p.Gly686=) c.2006G= (p.Gly669=) c.2111G= (p.Gly704=) c.2018G= (p.Gly673=) c.2117G= (p.Gly706=) c.2147G= (p.Gly716=) c.2138G= (p.Gly713=) c.2108G= (p.Gly703=) c.2051G= (p.Gly684=) c.1997G= (p.Gly666=) c.1790G= (p.Gly597=) c.2204G= (p.Gly735=) c.2198G= (p.Gly733=) c.2195G= (p.Gly732=) c.2255G= (p.Gly752=) c.2246G= (p.Gly749=) c.2165G= (p.Gly722=) c.2114G= (p.Gly705=) | |
14 | g.33800403G>T | CA389413894 | NPAS3 | c.2096G>T (p.Gly699Val) c.2105G>T (p.Gly702Val) c.1996G>T c.793+2822G>T c.2000G>T (p.Gly667Val) c.2057G>T (p.Gly686Val) c.2006G>T (p.Gly669Val) c.2111G>T (p.Gly704Val) c.2018G>T (p.Gly673Val) c.2117G>T (p.Gly706Val) c.2147G>T (p.Gly716Val) c.2138G>T (p.Gly713Val) c.2108G>T (p.Gly703Val) c.2051G>T (p.Gly684Val) c.1997G>T (p.Gly666Val) c.1790G>T (p.Gly597Val) c.2204G>T (p.Gly735Val) c.2198G>T (p.Gly733Val) c.2195G>T (p.Gly732Val) c.2255G>T (p.Gly752Val) c.2246G>T (p.Gly749Val) c.2165G>T (p.Gly722Val) c.2114G>T (p.Gly705Val) | |
14 | g.33800404_33800411del | CA2521474768 | NPAS3 | c.2097_2104del (p.Gly700ArgfsTer?) c.2106_2113del (p.Gly703ArgfsTer?) c.1997_2004del c.793+2823_793+2830del c.2001_2008del (p.Gly668ArgfsTer?) c.2058_2065del (p.Gly687ArgfsTer?) c.2007_2014del (p.Gly670ArgfsTer?) c.2112_2119del (p.Gly705ArgfsTer?) c.2019_2026del (p.Gly674ArgfsTer?) c.2118_2125del (p.Gly707ArgfsTer?) c.2148_2155del (p.Gly717ArgfsTer?) c.2139_2146del (p.Gly714ArgfsTer?) c.2109_2116del (p.Gly704ArgfsTer?) c.2052_2059del (p.Gly685ArgfsTer?) c.1998_2005del (p.Gly667ArgfsTer?) c.1791_1798del (p.Gly598ArgfsTer?) c.2205_2212del (p.Gly736ArgfsTer?) c.2199_2206del (p.Gly734ArgfsTer?) c.2196_2203del (p.Gly733ArgfsTer?) c.2256_2263del (p.Gly753ArgfsTer?) c.2247_2254del (p.Gly750ArgfsTer?) c.2166_2173del (p.Gly723ArgfsTer?) c.2115_2122del (p.Gly706ArgfsTer?) | |
14 | g.33800404del | CA2624512033 | NPAS3 | c.2097del (p.Gly701ValfsTer?) c.2106del (p.Gly704ValfsTer?) c.1997del c.793+2823del c.2001del (p.Gly669ValfsTer?) c.2058del (p.Gly688ValfsTer?) c.2007del (p.Gly671ValfsTer?) c.2112del (p.Gly706ValfsTer?) c.2019del (p.Gly675ValfsTer?) c.2118del (p.Gly708ValfsTer?) c.2148del (p.Gly718ValfsTer?) c.2139del (p.Gly715ValfsTer?) c.2109del (p.Gly705ValfsTer?) c.2052del (p.Gly686ValfsTer?) c.1998del (p.Gly668ValfsTer?) c.1791del (p.Gly599ValfsTer?) c.2205del (p.Gly737ValfsTer?) c.2199del (p.Gly735ValfsTer?) c.2196del (p.Gly734ValfsTer?) c.2256del (p.Gly754ValfsTer?) c.2247del (p.Gly751ValfsTer?) c.2166del (p.Gly724ValfsTer?) c.2115del (p.Gly707ValfsTer?) | gnomAD v4 |
14 | g.33800404T>A | CA486093107 | NPAS3 | c.2097T>A (p.Gly699=) c.2106T>A (p.Gly702=) c.1997T>A c.793+2823T>A c.2001T>A (p.Gly667=) c.2058T>A (p.Gly686=) c.2007T>A (p.Gly669=) c.2112T>A (p.Gly704=) c.2019T>A (p.Gly673=) c.2118T>A (p.Gly706=) c.2148T>A (p.Gly716=) c.2139T>A (p.Gly713=) c.2109T>A (p.Gly703=) c.2052T>A (p.Gly684=) c.1998T>A (p.Gly666=) c.1791T>A (p.Gly597=) c.2205T>A (p.Gly735=) c.2199T>A (p.Gly733=) c.2196T>A (p.Gly732=) c.2256T>A (p.Gly752=) c.2247T>A (p.Gly749=) c.2166T>A (p.Gly722=) c.2115T>A (p.Gly705=) | |
14 | g.33800404T>C | CA7150939 | NPAS3 | c.2097T>C (p.Gly699=) c.2106T>C (p.Gly702=) c.1997T>C c.793+2823T>C c.2001T>C (p.Gly667=) c.2058T>C (p.Gly686=) c.2007T>C (p.Gly669=) c.2112T>C (p.Gly704=) c.2019T>C (p.Gly673=) c.2118T>C (p.Gly706=) c.2148T>C (p.Gly716=) c.2139T>C (p.Gly713=) c.2109T>C (p.Gly703=) c.2052T>C (p.Gly684=) c.1998T>C (p.Gly666=) c.1791T>C (p.Gly597=) c.2205T>C (p.Gly735=) c.2199T>C (p.Gly733=) c.2196T>C (p.Gly732=) c.2256T>C (p.Gly752=) c.2247T>C (p.Gly749=) c.2166T>C (p.Gly722=) c.2115T>C (p.Gly705=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800404T>G | CA7150938 | NPAS3 | c.2097T>G (p.Gly699=) c.2106T>G (p.Gly702=) c.1997T>G c.793+2823T>G c.2001T>G (p.Gly667=) c.2058T>G (p.Gly686=) c.2007T>G (p.Gly669=) c.2112T>G (p.Gly704=) c.2019T>G (p.Gly673=) c.2118T>G (p.Gly706=) c.2148T>G (p.Gly716=) c.2139T>G (p.Gly713=) c.2109T>G (p.Gly703=) c.2052T>G (p.Gly684=) c.1998T>G (p.Gly666=) c.1791T>G (p.Gly597=) c.2205T>G (p.Gly735=) c.2199T>G (p.Gly733=) c.2196T>G (p.Gly732=) c.2256T>G (p.Gly752=) c.2247T>G (p.Gly749=) c.2166T>G (p.Gly722=) c.2115T>G (p.Gly705=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800404T= | CA2128327404 | NPAS3 | c.2097T= (p.Gly699=) c.2106T= (p.Gly702=) c.1997T= c.793+2823T= c.2001T= (p.Gly667=) c.2058T= (p.Gly686=) c.2007T= (p.Gly669=) c.2112T= (p.Gly704=) c.2019T= (p.Gly673=) c.2118T= (p.Gly706=) c.2148T= (p.Gly716=) c.2139T= (p.Gly713=) c.2109T= (p.Gly703=) c.2052T= (p.Gly684=) c.1998T= (p.Gly666=) c.1791T= (p.Gly597=) c.2205T= (p.Gly735=) c.2199T= (p.Gly733=) c.2196T= (p.Gly732=) c.2256T= (p.Gly752=) c.2247T= (p.Gly749=) c.2166T= (p.Gly722=) c.2115T= (p.Gly705=) | |
14 | g.33800404_33800422delinsTGGGGGTGGCGGTGGCGGG | CA2128327402 | NPAS3 | c.2097_2115delinsTGGGGGTGGCGGTGGCGGG (p.Gly699=) c.2106_2124delinsTGGGGGTGGCGGTGGCGGG (p.Gly702=) c.1997_2015delinsTGGGGGTGGCGGTGGCGGG c.793+2823_793+2841delinsTGGGGGTGGCGGTGGCGGG c.2001_2019delinsTGGGGGTGGCGGTGGCGGG (p.Gly667=) c.2058_2076delinsTGGGGGTGGCGGTGGCGGG (p.Gly686=) c.2007_2025delinsTGGGGGTGGCGGTGGCGGG (p.Gly669=) c.2112_2130delinsTGGGGGTGGCGGTGGCGGG (p.Gly704=) c.2019_2037delinsTGGGGGTGGCGGTGGCGGG (p.Gly673=) c.2118_2136delinsTGGGGGTGGCGGTGGCGGG (p.Gly706=) c.2148_2166delinsTGGGGGTGGCGGTGGCGGG (p.Gly716=) c.2139_2157delinsTGGGGGTGGCGGTGGCGGG (p.Gly713=) c.2109_2127delinsTGGGGGTGGCGGTGGCGGG (p.Gly703=) c.2052_2070delinsTGGGGGTGGCGGTGGCGGG (p.Gly684=) c.1998_2016delinsTGGGGGTGGCGGTGGCGGG (p.Gly666=) c.1791_1809delinsTGGGGGTGGCGGTGGCGGG (p.Gly597=) c.2205_2223delinsTGGGGGTGGCGGTGGCGGG (p.Gly735=) c.2199_2217delinsTGGGGGTGGCGGTGGCGGG (p.Gly733=) c.2196_2214delinsTGGGGGTGGCGGTGGCGGG (p.Gly732=) c.2256_2274delinsTGGGGGTGGCGGTGGCGGG (p.Gly752=) c.2247_2265delinsTGGGGGTGGCGGTGGCGGG (p.Gly749=) c.2166_2184delinsTGGGGGTGGCGGTGGCGGG (p.Gly722=) c.2115_2133delinsTGGGGGTGGCGGTGGCGGG (p.Gly705=) | |
14 | g.33800405G>A | CA258719120 | NPAS3 | c.2098G>A (p.Gly700Arg) c.2107G>A (p.Gly703Arg) c.1998G>A c.793+2824G>A c.2002G>A (p.Gly668Arg) c.2059G>A (p.Gly687Arg) c.2008G>A (p.Gly670Arg) c.2113G>A (p.Gly705Arg) c.2020G>A (p.Gly674Arg) c.2119G>A (p.Gly707Arg) c.2149G>A (p.Gly717Arg) c.2140G>A (p.Gly714Arg) c.2110G>A (p.Gly704Arg) c.2053G>A (p.Gly685Arg) c.1999G>A (p.Gly667Arg) c.1792G>A (p.Gly598Arg) c.2206G>A (p.Gly736Arg) c.2200G>A (p.Gly734Arg) c.2197G>A (p.Gly733Arg) c.2257G>A (p.Gly753Arg) c.2248G>A (p.Gly750Arg) c.2167G>A (p.Gly723Arg) c.2116G>A (p.Gly706Arg) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800405G>C | CA389413901 | NPAS3 | c.2098G>C (p.Gly700Arg) c.2107G>C (p.Gly703Arg) c.1998G>C c.793+2824G>C c.2002G>C (p.Gly668Arg) c.2059G>C (p.Gly687Arg) c.2008G>C (p.Gly670Arg) c.2113G>C (p.Gly705Arg) c.2020G>C (p.Gly674Arg) c.2119G>C (p.Gly707Arg) c.2149G>C (p.Gly717Arg) c.2140G>C (p.Gly714Arg) c.2110G>C (p.Gly704Arg) c.2053G>C (p.Gly685Arg) c.1999G>C (p.Gly667Arg) c.1792G>C (p.Gly598Arg) c.2206G>C (p.Gly736Arg) c.2200G>C (p.Gly734Arg) c.2197G>C (p.Gly733Arg) c.2257G>C (p.Gly753Arg) c.2248G>C (p.Gly750Arg) c.2167G>C (p.Gly723Arg) c.2116G>C (p.Gly706Arg) | |
14 | g.33800405G= | CA2128327411 | NPAS3 | c.2098G= (p.Gly700=) c.2107G= (p.Gly703=) c.1998G= c.793+2824G= c.2002G= (p.Gly668=) c.2059G= (p.Gly687=) c.2008G= (p.Gly670=) c.2113G= (p.Gly705=) c.2020G= (p.Gly674=) c.2119G= (p.Gly707=) c.2149G= (p.Gly717=) c.2140G= (p.Gly714=) c.2110G= (p.Gly704=) c.2053G= (p.Gly685=) c.1999G= (p.Gly667=) c.1792G= (p.Gly598=) c.2206G= (p.Gly736=) c.2200G= (p.Gly734=) c.2197G= (p.Gly733=) c.2257G= (p.Gly753=) c.2248G= (p.Gly750=) c.2167G= (p.Gly723=) c.2116G= (p.Gly706=) | |
14 | g.33800405G>T | CA389413903 | NPAS3 | c.2098G>T (p.Gly700Trp) c.2107G>T (p.Gly703Trp) c.1998G>T c.793+2824G>T c.2002G>T (p.Gly668Trp) c.2059G>T (p.Gly687Trp) c.2008G>T (p.Gly670Trp) c.2113G>T (p.Gly705Trp) c.2020G>T (p.Gly674Trp) c.2119G>T (p.Gly707Trp) c.2149G>T (p.Gly717Trp) c.2140G>T (p.Gly714Trp) c.2110G>T (p.Gly704Trp) c.2053G>T (p.Gly685Trp) c.1999G>T (p.Gly667Trp) c.1792G>T (p.Gly598Trp) c.2206G>T (p.Gly736Trp) c.2200G>T (p.Gly734Trp) c.2197G>T (p.Gly733Trp) c.2257G>T (p.Gly753Trp) c.2248G>T (p.Gly750Trp) c.2167G>T (p.Gly723Trp) c.2116G>T (p.Gly706Trp) | gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800409dup | CA258719119 | NPAS3 | c.2102dup (p.Gly702TrpfsTer?) c.2111dup (p.Gly705TrpfsTer?) c.2002dup c.793+2828dup c.2006dup (p.Gly670TrpfsTer?) c.2063dup (p.Gly689TrpfsTer?) c.2012dup (p.Gly672TrpfsTer?) c.2117dup (p.Gly707TrpfsTer?) c.2024dup (p.Gly676TrpfsTer?) c.2123dup (p.Gly709TrpfsTer?) c.2153dup (p.Gly719TrpfsTer?) c.2144dup (p.Gly716TrpfsTer?) c.2114dup (p.Gly706TrpfsTer?) c.2057dup (p.Gly687TrpfsTer?) c.2003dup (p.Gly669TrpfsTer?) c.1796dup (p.Gly600TrpfsTer?) c.2210dup (p.Gly738TrpfsTer?) c.2204dup (p.Gly736TrpfsTer?) c.2201dup (p.Gly735TrpfsTer?) c.2261dup (p.Gly755TrpfsTer?) c.2252dup (p.Gly752TrpfsTer?) c.2171dup (p.Gly725TrpfsTer?) c.2120dup (p.Gly708TrpfsTer?) | dbSNP |
14 | g.33800409del | CA2624512034 | NPAS3 | c.2102del (p.Gly701ValfsTer?) c.2111del (p.Gly704ValfsTer?) c.2002del c.793+2828del c.2006del (p.Gly669ValfsTer?) c.2063del (p.Gly688ValfsTer?) c.2012del (p.Gly671ValfsTer?) c.2117del (p.Gly706ValfsTer?) c.2024del (p.Gly675ValfsTer?) c.2123del (p.Gly708ValfsTer?) c.2153del (p.Gly718ValfsTer?) c.2144del (p.Gly715ValfsTer?) c.2114del (p.Gly705ValfsTer?) c.2057del (p.Gly686ValfsTer?) c.2003del (p.Gly668ValfsTer?) c.1796del (p.Gly599ValfsTer?) c.2210del (p.Gly737ValfsTer?) c.2204del (p.Gly735ValfsTer?) c.2201del (p.Gly734ValfsTer?) c.2261del (p.Gly754ValfsTer?) c.2252del (p.Gly751ValfsTer?) c.2171del (p.Gly724ValfsTer?) c.2120del (p.Gly707ValfsTer?) | gnomAD v4 |
14 | g.33800408_33800425del | CA961818497 | NPAS3 | c.2101_2118del (p.Gly701_Gly706del) c.2110_2127del (p.Gly704_Gly709del) c.2001_2018del c.793+2827_793+2844del c.2005_2022del (p.Gly669_Gly674del) c.2062_2079del (p.Gly688_Gly693del) c.2011_2028del (p.Gly671_Gly676del) c.2116_2133del (p.Gly706_Gly711del) c.2023_2040del (p.Gly675_Gly680del) c.2122_2139del (p.Gly708_Gly713del) c.2152_2169del (p.Gly718_Gly723del) c.2143_2160del (p.Gly715_Gly720del) c.2113_2130del (p.Gly705_Gly710del) c.2056_2073del (p.Gly686_Gly691del) c.2002_2019del (p.Gly668_Gly673del) c.1795_1812del (p.Gly599_Gly604del) c.2209_2226del (p.Gly737_Gly742del) c.2203_2220del (p.Gly735_Gly740del) c.2200_2217del (p.Gly734_Gly739del) c.2260_2277del (p.Gly754_Gly759del) c.2251_2268del (p.Gly751_Gly756del) c.2170_2187del (p.Gly724_Gly729del) c.2119_2136del (p.Gly707_Gly712del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800406G>A | CA389413907 | NPAS3 | c.2099G>A (p.Gly700Glu) c.2108G>A (p.Gly703Glu) c.1999G>A c.793+2825G>A c.2003G>A (p.Gly668Glu) c.2060G>A (p.Gly687Glu) c.2009G>A (p.Gly670Glu) c.2114G>A (p.Gly705Glu) c.2021G>A (p.Gly674Glu) c.2120G>A (p.Gly707Glu) c.2150G>A (p.Gly717Glu) c.2141G>A (p.Gly714Glu) c.2111G>A (p.Gly704Glu) c.2054G>A (p.Gly685Glu) c.2000G>A (p.Gly667Glu) c.1793G>A (p.Gly598Glu) c.2207G>A (p.Gly736Glu) c.2201G>A (p.Gly734Glu) c.2198G>A (p.Gly733Glu) c.2258G>A (p.Gly753Glu) c.2249G>A (p.Gly750Glu) c.2168G>A (p.Gly723Glu) c.2117G>A (p.Gly706Glu) | gnomAD v4 |
14 | g.33800406G>C | CA389413909 | NPAS3 | c.2099G>C (p.Gly700Ala) c.2108G>C (p.Gly703Ala) c.1999G>C c.793+2825G>C c.2003G>C (p.Gly668Ala) c.2060G>C (p.Gly687Ala) c.2009G>C (p.Gly670Ala) c.2114G>C (p.Gly705Ala) c.2021G>C (p.Gly674Ala) c.2120G>C (p.Gly707Ala) c.2150G>C (p.Gly717Ala) c.2141G>C (p.Gly714Ala) c.2111G>C (p.Gly704Ala) c.2054G>C (p.Gly685Ala) c.2000G>C (p.Gly667Ala) c.1793G>C (p.Gly598Ala) c.2207G>C (p.Gly736Ala) c.2201G>C (p.Gly734Ala) c.2198G>C (p.Gly733Ala) c.2258G>C (p.Gly753Ala) c.2249G>C (p.Gly750Ala) c.2168G>C (p.Gly723Ala) c.2117G>C (p.Gly706Ala) | gnomAD v4 |
14 | g.33800406G>T | CA389413905 | NPAS3 | c.2099G>T (p.Gly700Val) c.2108G>T (p.Gly703Val) c.1999G>T c.793+2825G>T c.2003G>T (p.Gly668Val) c.2060G>T (p.Gly687Val) c.2009G>T (p.Gly670Val) c.2114G>T (p.Gly705Val) c.2021G>T (p.Gly674Val) c.2120G>T (p.Gly707Val) c.2150G>T (p.Gly717Val) c.2141G>T (p.Gly714Val) c.2111G>T (p.Gly704Val) c.2054G>T (p.Gly685Val) c.2000G>T (p.Gly667Val) c.1793G>T (p.Gly598Val) c.2207G>T (p.Gly736Val) c.2201G>T (p.Gly734Val) c.2198G>T (p.Gly733Val) c.2258G>T (p.Gly753Val) c.2249G>T (p.Gly750Val) c.2168G>T (p.Gly723Val) c.2117G>T (p.Gly706Val) | |
14 | g.33800407G>A | CA486093108 | NPAS3 | c.2100G>A (p.Gly700=) c.2109G>A (p.Gly703=) c.2000G>A c.793+2826G>A c.2004G>A (p.Gly668=) c.2061G>A (p.Gly687=) c.2010G>A (p.Gly670=) c.2115G>A (p.Gly705=) c.2022G>A (p.Gly674=) c.2121G>A (p.Gly707=) c.2151G>A (p.Gly717=) c.2142G>A (p.Gly714=) c.2112G>A (p.Gly704=) c.2055G>A (p.Gly685=) c.2001G>A (p.Gly667=) c.1794G>A (p.Gly598=) c.2208G>A (p.Gly736=) c.2202G>A (p.Gly734=) c.2199G>A (p.Gly733=) c.2259G>A (p.Gly753=) c.2250G>A (p.Gly750=) c.2169G>A (p.Gly723=) c.2118G>A (p.Gly706=) | gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800407G>C | CA486093109 | NPAS3 | c.2100G>C (p.Gly700=) c.2109G>C (p.Gly703=) c.2000G>C c.793+2826G>C c.2004G>C (p.Gly668=) c.2061G>C (p.Gly687=) c.2010G>C (p.Gly670=) c.2115G>C (p.Gly705=) c.2022G>C (p.Gly674=) c.2121G>C (p.Gly707=) c.2151G>C (p.Gly717=) c.2142G>C (p.Gly714=) c.2112G>C (p.Gly704=) c.2055G>C (p.Gly685=) c.2001G>C (p.Gly667=) c.1794G>C (p.Gly598=) c.2208G>C (p.Gly736=) c.2202G>C (p.Gly734=) c.2199G>C (p.Gly733=) c.2259G>C (p.Gly753=) c.2250G>C (p.Gly750=) c.2169G>C (p.Gly723=) c.2118G>C (p.Gly706=) | |
14 | g.33800407G>T | CA486093110 | NPAS3 | c.2100G>T (p.Gly700=) c.2109G>T (p.Gly703=) c.2000G>T c.793+2826G>T c.2004G>T (p.Gly668=) c.2061G>T (p.Gly687=) c.2010G>T (p.Gly670=) c.2115G>T (p.Gly705=) c.2022G>T (p.Gly674=) c.2121G>T (p.Gly707=) c.2151G>T (p.Gly717=) c.2142G>T (p.Gly714=) c.2112G>T (p.Gly704=) c.2055G>T (p.Gly685=) c.2001G>T (p.Gly667=) c.1794G>T (p.Gly598=) c.2208G>T (p.Gly736=) c.2202G>T (p.Gly734=) c.2199G>T (p.Gly733=) c.2259G>T (p.Gly753=) c.2250G>T (p.Gly750=) c.2169G>T (p.Gly723=) c.2118G>T (p.Gly706=) | gnomAD v4 |
14 | g.33800407_33800413delinsGGGTGGC | CA2128327415 | NPAS3 | c.2100_2106delinsGGGTGGC (p.Gly700=) c.2109_2115delinsGGGTGGC (p.Gly703=) c.2000_2006delinsGGGTGGC c.793+2826_793+2832delinsGGGTGGC c.2004_2010delinsGGGTGGC (p.Gly668=) c.2061_2067delinsGGGTGGC (p.Gly687=) c.2010_2016delinsGGGTGGC (p.Gly670=) c.2115_2121delinsGGGTGGC (p.Gly705=) c.2022_2028delinsGGGTGGC (p.Gly674=) c.2121_2127delinsGGGTGGC (p.Gly707=) c.2151_2157delinsGGGTGGC (p.Gly717=) c.2142_2148delinsGGGTGGC (p.Gly714=) c.2112_2118delinsGGGTGGC (p.Gly704=) c.2055_2061delinsGGGTGGC (p.Gly685=) c.2001_2007delinsGGGTGGC (p.Gly667=) c.1794_1800delinsGGGTGGC (p.Gly598=) c.2208_2214delinsGGGTGGC (p.Gly736=) c.2202_2208delinsGGGTGGC (p.Gly734=) c.2199_2205delinsGGGTGGC (p.Gly733=) c.2259_2265delinsGGGTGGC (p.Gly753=) c.2250_2256delinsGGGTGGC (p.Gly750=) c.2169_2175delinsGGGTGGC (p.Gly723=) c.2118_2124delinsGGGTGGC (p.Gly706=) | |
14 | g.33800408G>A | CA7150941 | NPAS3 | c.2101G>A (p.Gly701Ser) c.2110G>A (p.Gly704Ser) c.2001G>A c.793+2827G>A c.2005G>A (p.Gly669Ser) c.2062G>A (p.Gly688Ser) c.2011G>A (p.Gly671Ser) c.2116G>A (p.Gly706Ser) c.2023G>A (p.Gly675Ser) c.2122G>A (p.Gly708Ser) c.2152G>A (p.Gly718Ser) c.2143G>A (p.Gly715Ser) c.2113G>A (p.Gly705Ser) c.2056G>A (p.Gly686Ser) c.2002G>A (p.Gly668Ser) c.1795G>A (p.Gly599Ser) c.2209G>A (p.Gly737Ser) c.2203G>A (p.Gly735Ser) c.2200G>A (p.Gly734Ser) c.2260G>A (p.Gly754Ser) c.2251G>A (p.Gly751Ser) c.2170G>A (p.Gly724Ser) c.2119G>A (p.Gly707Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800408G>C | CA389413913 | NPAS3 | c.2101G>C (p.Gly701Arg) c.2110G>C (p.Gly704Arg) c.2001G>C c.793+2827G>C c.2005G>C (p.Gly669Arg) c.2062G>C (p.Gly688Arg) c.2011G>C (p.Gly671Arg) c.2116G>C (p.Gly706Arg) c.2023G>C (p.Gly675Arg) c.2122G>C (p.Gly708Arg) c.2152G>C (p.Gly718Arg) c.2143G>C (p.Gly715Arg) c.2113G>C (p.Gly705Arg) c.2056G>C (p.Gly686Arg) c.2002G>C (p.Gly668Arg) c.1795G>C (p.Gly599Arg) c.2209G>C (p.Gly737Arg) c.2203G>C (p.Gly735Arg) c.2200G>C (p.Gly734Arg) c.2260G>C (p.Gly754Arg) c.2251G>C (p.Gly751Arg) c.2170G>C (p.Gly724Arg) c.2119G>C (p.Gly707Arg) | COSMIC COSMIC |
14 | g.33800408G= | CA2128327419 | NPAS3 | c.2101G= (p.Gly701=) c.2110G= (p.Gly704=) c.2001G= c.793+2827G= c.2005G= (p.Gly669=) c.2062G= (p.Gly688=) c.2011G= (p.Gly671=) c.2116G= (p.Gly706=) c.2023G= (p.Gly675=) c.2122G= (p.Gly708=) c.2152G= (p.Gly718=) c.2143G= (p.Gly715=) c.2113G= (p.Gly705=) c.2056G= (p.Gly686=) c.2002G= (p.Gly668=) c.1795G= (p.Gly599=) c.2209G= (p.Gly737=) c.2203G= (p.Gly735=) c.2200G= (p.Gly734=) c.2260G= (p.Gly754=) c.2251G= (p.Gly751=) c.2170G= (p.Gly724=) c.2119G= (p.Gly707=) | |
14 | g.33800408G>T | CA389413915 | NPAS3 | c.2101G>T (p.Gly701Cys) c.2110G>T (p.Gly704Cys) c.2001G>T c.793+2827G>T c.2005G>T (p.Gly669Cys) c.2062G>T (p.Gly688Cys) c.2011G>T (p.Gly671Cys) c.2116G>T (p.Gly706Cys) c.2023G>T (p.Gly675Cys) c.2122G>T (p.Gly708Cys) c.2152G>T (p.Gly718Cys) c.2143G>T (p.Gly715Cys) c.2113G>T (p.Gly705Cys) c.2056G>T (p.Gly686Cys) c.2002G>T (p.Gly668Cys) c.1795G>T (p.Gly599Cys) c.2209G>T (p.Gly737Cys) c.2203G>T (p.Gly735Cys) c.2200G>T (p.Gly734Cys) c.2260G>T (p.Gly754Cys) c.2251G>T (p.Gly751Cys) c.2170G>T (p.Gly724Cys) c.2119G>T (p.Gly707Cys) | gnomAD v4 |
14 | g.33800416_33800421dup | CA7150940 | NPAS3 | c.2109_2114dup (p.Gly705_Gly706insGlyGly) c.2118_2123dup (p.Gly708_Gly709insGlyGly) c.2009_2014dup c.793+2835_793+2840dup c.2013_2018dup (p.Gly673_Gly674insGlyGly) c.2070_2075dup (p.Gly692_Gly693insGlyGly) c.2019_2024dup (p.Gly675_Gly676insGlyGly) c.2124_2129dup (p.Gly710_Gly711insGlyGly) c.2031_2036dup (p.Gly679_Gly680insGlyGly) c.2130_2135dup (p.Gly712_Gly713insGlyGly) c.2160_2165dup (p.Gly722_Gly723insGlyGly) c.2151_2156dup (p.Gly719_Gly720insGlyGly) c.2121_2126dup (p.Gly709_Gly710insGlyGly) c.2064_2069dup (p.Gly690_Gly691insGlyGly) c.2010_2015dup (p.Gly672_Gly673insGlyGly) c.1803_1808dup (p.Gly603_Gly604insGlyGly) c.2217_2222dup (p.Gly741_Gly742insGlyGly) c.2211_2216dup (p.Gly739_Gly740insGlyGly) c.2208_2213dup (p.Gly738_Gly739insGlyGly) c.2268_2273dup (p.Gly758_Gly759insGlyGly) c.2259_2264dup (p.Gly755_Gly756insGlyGly) c.2178_2183dup (p.Gly728_Gly729insGlyGly) c.2127_2132dup (p.Gly711_Gly712insGlyGly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800416_33800421del | CA613803863 | NPAS3 | c.2109_2114del (p.Gly704_Gly705del) c.2118_2123del (p.Gly707_Gly708del) c.2009_2014del c.793+2835_793+2840del c.2013_2018del (p.Gly672_Gly673del) c.2070_2075del (p.Gly691_Gly692del) c.2019_2024del (p.Gly674_Gly675del) c.2124_2129del (p.Gly709_Gly710del) c.2031_2036del (p.Gly678_Gly679del) c.2130_2135del (p.Gly711_Gly712del) c.2160_2165del (p.Gly721_Gly722del) c.2151_2156del (p.Gly718_Gly719del) c.2121_2126del (p.Gly708_Gly709del) c.2064_2069del (p.Gly689_Gly690del) c.2010_2015del (p.Gly671_Gly672del) c.1803_1808del (p.Gly602_Gly603del) c.2217_2222del (p.Gly740_Gly741del) c.2211_2216del (p.Gly738_Gly739del) c.2208_2213del (p.Gly737_Gly738del) c.2268_2273del (p.Gly757_Gly758del) c.2259_2264del (p.Gly754_Gly755del) c.2178_2183del (p.Gly727_Gly728del) c.2127_2132del (p.Gly710_Gly711del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800408_33800431delinsGGTGGCGGTGGCGGGGGGCTGCAC | CA2128327418 | NPAS3 | c.2101_2124delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly701=) c.2110_2133delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly704=) c.2001_2024delinsGGTGGCGGTGGCGGGGGGCTGCAC c.793+2827_793+2850delinsGGTGGCGGTGGCGGGGGGCTGCAC c.2005_2028delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly669=) c.2062_2085delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly688=) c.2011_2034delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly671=) c.2116_2139delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly706=) c.2023_2046delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly675=) c.2122_2145delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly708=) c.2152_2175delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly718=) c.2143_2166delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly715=) c.2113_2136delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly705=) c.2056_2079delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly686=) c.2002_2025delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly668=) c.1795_1818delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly599=) c.2209_2232delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly737=) c.2203_2226delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly735=) c.2200_2223delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly734=) c.2260_2283delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly754=) c.2251_2274delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly751=) c.2170_2193delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly724=) c.2119_2142delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly707=) | |
14 | g.33800409G>A | CA7150942 | NPAS3 | c.2102G>A (p.Gly701Asp) c.2111G>A (p.Gly704Asp) c.2002G>A c.793+2828G>A c.2006G>A (p.Gly669Asp) c.2063G>A (p.Gly688Asp) c.2012G>A (p.Gly671Asp) c.2117G>A (p.Gly706Asp) c.2024G>A (p.Gly675Asp) c.2123G>A (p.Gly708Asp) c.2153G>A (p.Gly718Asp) c.2144G>A (p.Gly715Asp) c.2114G>A (p.Gly705Asp) c.2057G>A (p.Gly686Asp) c.2003G>A (p.Gly668Asp) c.1796G>A (p.Gly599Asp) c.2210G>A (p.Gly737Asp) c.2204G>A (p.Gly735Asp) c.2201G>A (p.Gly734Asp) c.2261G>A (p.Gly754Asp) c.2252G>A (p.Gly751Asp) c.2171G>A (p.Gly724Asp) c.2120G>A (p.Gly707Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800409G>C | CA389413918 | NPAS3 | c.2102G>C (p.Gly701Ala) c.2111G>C (p.Gly704Ala) c.2002G>C c.793+2828G>C c.2006G>C (p.Gly669Ala) c.2063G>C (p.Gly688Ala) c.2012G>C (p.Gly671Ala) c.2117G>C (p.Gly706Ala) c.2024G>C (p.Gly675Ala) c.2123G>C (p.Gly708Ala) c.2153G>C (p.Gly718Ala) c.2144G>C (p.Gly715Ala) c.2114G>C (p.Gly705Ala) c.2057G>C (p.Gly686Ala) c.2003G>C (p.Gly668Ala) c.1796G>C (p.Gly599Ala) c.2210G>C (p.Gly737Ala) c.2204G>C (p.Gly735Ala) c.2201G>C (p.Gly734Ala) c.2261G>C (p.Gly754Ala) c.2252G>C (p.Gly751Ala) c.2171G>C (p.Gly724Ala) c.2120G>C (p.Gly707Ala) | |
14 | g.33800409G= | CA2128327423 | NPAS3 | c.2102G= (p.Gly701=) c.2111G= (p.Gly704=) c.2002G= c.793+2828G= c.2006G= (p.Gly669=) c.2063G= (p.Gly688=) c.2012G= (p.Gly671=) c.2117G= (p.Gly706=) c.2024G= (p.Gly675=) c.2123G= (p.Gly708=) c.2153G= (p.Gly718=) c.2144G= (p.Gly715=) c.2114G= (p.Gly705=) c.2057G= (p.Gly686=) c.2003G= (p.Gly668=) c.1796G= (p.Gly599=) c.2210G= (p.Gly737=) c.2204G= (p.Gly735=) c.2201G= (p.Gly734=) c.2261G= (p.Gly754=) c.2252G= (p.Gly751=) c.2171G= (p.Gly724=) c.2120G= (p.Gly707=) | |
14 | g.33800409G>T | CA389413920 | NPAS3 | c.2102G>T (p.Gly701Val) c.2111G>T (p.Gly704Val) c.2002G>T c.793+2828G>T c.2006G>T (p.Gly669Val) c.2063G>T (p.Gly688Val) c.2012G>T (p.Gly671Val) c.2117G>T (p.Gly706Val) c.2024G>T (p.Gly675Val) c.2123G>T (p.Gly708Val) c.2153G>T (p.Gly718Val) c.2144G>T (p.Gly715Val) c.2114G>T (p.Gly705Val) c.2057G>T (p.Gly686Val) c.2003G>T (p.Gly668Val) c.1796G>T (p.Gly599Val) c.2210G>T (p.Gly737Val) c.2204G>T (p.Gly735Val) c.2201G>T (p.Gly734Val) c.2261G>T (p.Gly754Val) c.2252G>T (p.Gly751Val) c.2171G>T (p.Gly724Val) c.2120G>T (p.Gly707Val) | |
14 | g.33800414_33800436del | CA961818523 | NPAS3 | c.2107_2129del (p.Gly703HisfsTer?) c.2116_2138del (p.Gly706HisfsTer?) c.2007_2029del c.793+2833_793+2855del c.2011_2033del (p.Gly671HisfsTer?) c.2068_2090del (p.Gly690HisfsTer?) c.2017_2039del (p.Gly673HisfsTer?) c.2122_2144del (p.Gly708HisfsTer?) c.2029_2051del (p.Gly677HisfsTer?) c.2128_2150del (p.Gly710HisfsTer?) c.2158_2180del (p.Gly720HisfsTer?) c.2149_2171del (p.Gly717HisfsTer?) c.2119_2141del (p.Gly707HisfsTer?) c.2062_2084del (p.Gly688HisfsTer?) c.2008_2030del (p.Gly670HisfsTer?) c.1801_1823del (p.Gly601HisfsTer?) c.2215_2237del (p.Gly739HisfsTer?) c.2209_2231del (p.Gly737HisfsTer?) c.2206_2228del (p.Gly736HisfsTer?) c.2266_2288del (p.Gly756HisfsTer?) c.2257_2279del (p.Gly753HisfsTer?) c.2176_2198del (p.Gly726HisfsTer?) c.2125_2147del (p.Gly709HisfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800410T>A | CA486093112 | NPAS3 | c.2103T>A (p.Gly701=) c.2112T>A (p.Gly704=) c.2003T>A c.793+2829T>A c.2007T>A (p.Gly669=) c.2064T>A (p.Gly688=) c.2013T>A (p.Gly671=) c.2118T>A (p.Gly706=) c.2025T>A (p.Gly675=) c.2124T>A (p.Gly708=) c.2154T>A (p.Gly718=) c.2145T>A (p.Gly715=) c.2115T>A (p.Gly705=) c.2058T>A (p.Gly686=) c.2004T>A (p.Gly668=) c.1797T>A (p.Gly599=) c.2211T>A (p.Gly737=) c.2205T>A (p.Gly735=) c.2202T>A (p.Gly734=) c.2262T>A (p.Gly754=) c.2253T>A (p.Gly751=) c.2172T>A (p.Gly724=) c.2121T>A (p.Gly707=) | |
14 | g.33800410T>C | CA486093113 | NPAS3 | c.2103T>C (p.Gly701=) c.2112T>C (p.Gly704=) c.2003T>C c.793+2829T>C c.2007T>C (p.Gly669=) c.2064T>C (p.Gly688=) c.2013T>C (p.Gly671=) c.2118T>C (p.Gly706=) c.2025T>C (p.Gly675=) c.2124T>C (p.Gly708=) c.2154T>C (p.Gly718=) c.2145T>C (p.Gly715=) c.2115T>C (p.Gly705=) c.2058T>C (p.Gly686=) c.2004T>C (p.Gly668=) c.1797T>C (p.Gly599=) c.2211T>C (p.Gly737=) c.2205T>C (p.Gly735=) c.2202T>C (p.Gly734=) c.2262T>C (p.Gly754=) c.2253T>C (p.Gly751=) c.2172T>C (p.Gly724=) c.2121T>C (p.Gly707=) | gnomAD v3 gnomAD v4 |
14 | g.33800410T>G | CA7150943 | NPAS3 | c.2103T>G (p.Gly701=) c.2112T>G (p.Gly704=) c.2003T>G c.793+2829T>G c.2007T>G (p.Gly669=) c.2064T>G (p.Gly688=) c.2013T>G (p.Gly671=) c.2118T>G (p.Gly706=) c.2025T>G (p.Gly675=) c.2124T>G (p.Gly708=) c.2154T>G (p.Gly718=) c.2145T>G (p.Gly715=) c.2115T>G (p.Gly705=) c.2058T>G (p.Gly686=) c.2004T>G (p.Gly668=) c.1797T>G (p.Gly599=) c.2211T>G (p.Gly737=) c.2205T>G (p.Gly735=) c.2202T>G (p.Gly734=) c.2262T>G (p.Gly754=) c.2253T>G (p.Gly751=) c.2172T>G (p.Gly724=) c.2121T>G (p.Gly707=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800410T= | CA2128327427 | NPAS3 | c.2103T= (p.Gly701=) c.2112T= (p.Gly704=) c.2003T= c.793+2829T= c.2007T= (p.Gly669=) c.2064T= (p.Gly688=) c.2013T= (p.Gly671=) c.2118T= (p.Gly706=) c.2025T= (p.Gly675=) c.2124T= (p.Gly708=) c.2154T= (p.Gly718=) c.2145T= (p.Gly715=) c.2115T= (p.Gly705=) c.2058T= (p.Gly686=) c.2004T= (p.Gly668=) c.1797T= (p.Gly599=) c.2211T= (p.Gly737=) c.2205T= (p.Gly735=) c.2202T= (p.Gly734=) c.2262T= (p.Gly754=) c.2253T= (p.Gly751=) c.2172T= (p.Gly724=) c.2121T= (p.Gly707=) | |
14 | g.33800411G>A | CA7150944 | NPAS3 | c.2104G>A (p.Gly702Ser) c.2113G>A (p.Gly705Ser) c.2004G>A c.793+2830G>A c.2008G>A (p.Gly670Ser) c.2065G>A (p.Gly689Ser) c.2014G>A (p.Gly672Ser) c.2119G>A (p.Gly707Ser) c.2026G>A (p.Gly676Ser) c.2125G>A (p.Gly709Ser) c.2155G>A (p.Gly719Ser) c.2146G>A (p.Gly716Ser) c.2116G>A (p.Gly706Ser) c.2059G>A (p.Gly687Ser) c.2005G>A (p.Gly669Ser) c.1798G>A (p.Gly600Ser) c.2212G>A (p.Gly738Ser) c.2206G>A (p.Gly736Ser) c.2203G>A (p.Gly735Ser) c.2263G>A (p.Gly755Ser) c.2254G>A (p.Gly752Ser) c.2173G>A (p.Gly725Ser) c.2122G>A (p.Gly708Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800411G>C | CA389413926 | NPAS3 | c.2104G>C (p.Gly702Arg) c.2113G>C (p.Gly705Arg) c.2004G>C c.793+2830G>C c.2008G>C (p.Gly670Arg) c.2065G>C (p.Gly689Arg) c.2014G>C (p.Gly672Arg) c.2119G>C (p.Gly707Arg) c.2026G>C (p.Gly676Arg) c.2125G>C (p.Gly709Arg) c.2155G>C (p.Gly719Arg) c.2146G>C (p.Gly716Arg) c.2116G>C (p.Gly706Arg) c.2059G>C (p.Gly687Arg) c.2005G>C (p.Gly669Arg) c.1798G>C (p.Gly600Arg) c.2212G>C (p.Gly738Arg) c.2206G>C (p.Gly736Arg) c.2203G>C (p.Gly735Arg) c.2263G>C (p.Gly755Arg) c.2254G>C (p.Gly752Arg) c.2173G>C (p.Gly725Arg) c.2122G>C (p.Gly708Arg) | |
14 | g.33800411G= | CA2128327431 | NPAS3 | c.2104G= (p.Gly702=) c.2113G= (p.Gly705=) c.2004G= c.793+2830G= c.2008G= (p.Gly670=) c.2065G= (p.Gly689=) c.2014G= (p.Gly672=) c.2119G= (p.Gly707=) c.2026G= (p.Gly676=) c.2125G= (p.Gly709=) c.2155G= (p.Gly719=) c.2146G= (p.Gly716=) c.2116G= (p.Gly706=) c.2059G= (p.Gly687=) c.2005G= (p.Gly669=) c.1798G= (p.Gly600=) c.2212G= (p.Gly738=) c.2206G= (p.Gly736=) c.2203G= (p.Gly735=) c.2263G= (p.Gly755=) c.2254G= (p.Gly752=) c.2173G= (p.Gly725=) c.2122G= (p.Gly708=) | |
14 | g.33800411G>T | CA389413928 | NPAS3 | c.2104G>T (p.Gly702Cys) c.2113G>T (p.Gly705Cys) c.2004G>T c.793+2830G>T c.2008G>T (p.Gly670Cys) c.2065G>T (p.Gly689Cys) c.2014G>T (p.Gly672Cys) c.2119G>T (p.Gly707Cys) c.2026G>T (p.Gly676Cys) c.2125G>T (p.Gly709Cys) c.2155G>T (p.Gly719Cys) c.2146G>T (p.Gly716Cys) c.2116G>T (p.Gly706Cys) c.2059G>T (p.Gly687Cys) c.2005G>T (p.Gly669Cys) c.1798G>T (p.Gly600Cys) c.2212G>T (p.Gly738Cys) c.2206G>T (p.Gly736Cys) c.2203G>T (p.Gly735Cys) c.2263G>T (p.Gly755Cys) c.2254G>T (p.Gly752Cys) c.2173G>T (p.Gly725Cys) c.2122G>T (p.Gly708Cys) | |
14 | g.33800413_33800421dup | CA2624512035 | NPAS3 | c.2106_2114dup (p.Gly705_Gly706insGlyGlyGly) c.2115_2123dup (p.Gly708_Gly709insGlyGlyGly) c.2006_2014dup c.793+2832_793+2840dup c.2010_2018dup (p.Gly673_Gly674insGlyGlyGly) c.2067_2075dup (p.Gly692_Gly693insGlyGlyGly) c.2016_2024dup (p.Gly675_Gly676insGlyGlyGly) c.2121_2129dup (p.Gly710_Gly711insGlyGlyGly) c.2028_2036dup (p.Gly679_Gly680insGlyGlyGly) c.2127_2135dup (p.Gly712_Gly713insGlyGlyGly) c.2157_2165dup (p.Gly722_Gly723insGlyGlyGly) c.2148_2156dup (p.Gly719_Gly720insGlyGlyGly) c.2118_2126dup (p.Gly709_Gly710insGlyGlyGly) c.2061_2069dup (p.Gly690_Gly691insGlyGlyGly) c.2007_2015dup (p.Gly672_Gly673insGlyGlyGly) c.1800_1808dup (p.Gly603_Gly604insGlyGlyGly) c.2214_2222dup (p.Gly741_Gly742insGlyGlyGly) c.2208_2216dup (p.Gly739_Gly740insGlyGlyGly) c.2205_2213dup (p.Gly738_Gly739insGlyGlyGly) c.2265_2273dup (p.Gly758_Gly759insGlyGlyGly) c.2256_2264dup (p.Gly755_Gly756insGlyGlyGly) c.2175_2183dup (p.Gly728_Gly729insGlyGlyGly) c.2124_2132dup (p.Gly711_Gly712insGlyGlyGly) | gnomAD v4 |
14 | g.33800412G>A | CA389413934 | NPAS3 | c.2105G>A (p.Gly702Asp) c.2114G>A (p.Gly705Asp) c.2005G>A c.793+2831G>A c.2009G>A (p.Gly670Asp) c.2066G>A (p.Gly689Asp) c.2015G>A (p.Gly672Asp) c.2120G>A (p.Gly707Asp) c.2027G>A (p.Gly676Asp) c.2126G>A (p.Gly709Asp) c.2156G>A (p.Gly719Asp) c.2147G>A (p.Gly716Asp) c.2117G>A (p.Gly706Asp) c.2060G>A (p.Gly687Asp) c.2006G>A (p.Gly669Asp) c.1799G>A (p.Gly600Asp) c.2213G>A (p.Gly738Asp) c.2207G>A (p.Gly736Asp) c.2204G>A (p.Gly735Asp) c.2264G>A (p.Gly755Asp) c.2255G>A (p.Gly752Asp) c.2174G>A (p.Gly725Asp) c.2123G>A (p.Gly708Asp) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800412G>C | CA389413932 | NPAS3 | c.2105G>C (p.Gly702Ala) c.2114G>C (p.Gly705Ala) c.2005G>C c.793+2831G>C c.2009G>C (p.Gly670Ala) c.2066G>C (p.Gly689Ala) c.2015G>C (p.Gly672Ala) c.2120G>C (p.Gly707Ala) c.2027G>C (p.Gly676Ala) c.2126G>C (p.Gly709Ala) c.2156G>C (p.Gly719Ala) c.2147G>C (p.Gly716Ala) c.2117G>C (p.Gly706Ala) c.2060G>C (p.Gly687Ala) c.2006G>C (p.Gly669Ala) c.1799G>C (p.Gly600Ala) c.2213G>C (p.Gly738Ala) c.2207G>C (p.Gly736Ala) c.2204G>C (p.Gly735Ala) c.2264G>C (p.Gly755Ala) c.2255G>C (p.Gly752Ala) c.2174G>C (p.Gly725Ala) c.2123G>C (p.Gly708Ala) | |
14 | g.33800412G= | CA2128327436 | NPAS3 | c.2105G= (p.Gly702=) c.2114G= (p.Gly705=) c.2005G= c.793+2831G= c.2009G= (p.Gly670=) c.2066G= (p.Gly689=) c.2015G= (p.Gly672=) c.2120G= (p.Gly707=) c.2027G= (p.Gly676=) c.2126G= (p.Gly709=) c.2156G= (p.Gly719=) c.2147G= (p.Gly716=) c.2117G= (p.Gly706=) c.2060G= (p.Gly687=) c.2006G= (p.Gly669=) c.1799G= (p.Gly600=) c.2213G= (p.Gly738=) c.2207G= (p.Gly736=) c.2204G= (p.Gly735=) c.2264G= (p.Gly755=) c.2255G= (p.Gly752=) c.2174G= (p.Gly725=) c.2123G= (p.Gly708=) | |
14 | g.33800412G>T | CA389413930 | NPAS3 | c.2105G>T (p.Gly702Val) c.2114G>T (p.Gly705Val) c.2005G>T c.793+2831G>T c.2009G>T (p.Gly670Val) c.2066G>T (p.Gly689Val) c.2015G>T (p.Gly672Val) c.2120G>T (p.Gly707Val) c.2027G>T (p.Gly676Val) c.2126G>T (p.Gly709Val) c.2156G>T (p.Gly719Val) c.2147G>T (p.Gly716Val) c.2117G>T (p.Gly706Val) c.2060G>T (p.Gly687Val) c.2006G>T (p.Gly669Val) c.1799G>T (p.Gly600Val) c.2213G>T (p.Gly738Val) c.2207G>T (p.Gly736Val) c.2204G>T (p.Gly735Val) c.2264G>T (p.Gly755Val) c.2255G>T (p.Gly752Val) c.2174G>T (p.Gly725Val) c.2123G>T (p.Gly708Val) | |
14 | g.33800413C>A | CA486093116 | NPAS3 | c.2106C>A (p.Gly702=) c.2115C>A (p.Gly705=) c.2006C>A c.793+2832C>A c.2010C>A (p.Gly670=) c.2067C>A (p.Gly689=) c.2016C>A (p.Gly672=) c.2121C>A (p.Gly707=) c.2028C>A (p.Gly676=) c.2127C>A (p.Gly709=) c.2157C>A (p.Gly719=) c.2148C>A (p.Gly716=) c.2118C>A (p.Gly706=) c.2061C>A (p.Gly687=) c.2007C>A (p.Gly669=) c.1800C>A (p.Gly600=) c.2214C>A (p.Gly738=) c.2208C>A (p.Gly736=) c.2205C>A (p.Gly735=) c.2265C>A (p.Gly755=) c.2256C>A (p.Gly752=) c.2175C>A (p.Gly725=) c.2124C>A (p.Gly708=) | gnomAD v4 |
14 | g.33800413C= | CA2128327437 | NPAS3 | c.2106C= (p.Gly702=) c.2115C= (p.Gly705=) c.2006C= c.793+2832C= c.2010C= (p.Gly670=) c.2067C= (p.Gly689=) c.2016C= (p.Gly672=) c.2121C= (p.Gly707=) c.2028C= (p.Gly676=) c.2127C= (p.Gly709=) c.2157C= (p.Gly719=) c.2148C= (p.Gly716=) c.2118C= (p.Gly706=) c.2061C= (p.Gly687=) c.2007C= (p.Gly669=) c.1800C= (p.Gly600=) c.2214C= (p.Gly738=) c.2208C= (p.Gly736=) c.2205C= (p.Gly735=) c.2265C= (p.Gly755=) c.2256C= (p.Gly752=) c.2175C= (p.Gly725=) c.2124C= (p.Gly708=) | |
14 | g.33800413C>G | CA486093117 | NPAS3 | c.2106C>G (p.Gly702=) c.2115C>G (p.Gly705=) c.2006C>G c.793+2832C>G c.2010C>G (p.Gly670=) c.2067C>G (p.Gly689=) c.2016C>G (p.Gly672=) c.2121C>G (p.Gly707=) c.2028C>G (p.Gly676=) c.2127C>G (p.Gly709=) c.2157C>G (p.Gly719=) c.2148C>G (p.Gly716=) c.2118C>G (p.Gly706=) c.2061C>G (p.Gly687=) c.2007C>G (p.Gly669=) c.1800C>G (p.Gly600=) c.2214C>G (p.Gly738=) c.2208C>G (p.Gly736=) c.2205C>G (p.Gly735=) c.2265C>G (p.Gly755=) c.2256C>G (p.Gly752=) c.2175C>G (p.Gly725=) c.2124C>G (p.Gly708=) | dbSNP gnomAD v4 |
14 | g.33800413C>T | CA486093119 | NPAS3 | c.2106C>T (p.Gly702=) c.2115C>T (p.Gly705=) c.2006C>T c.793+2832C>T c.2010C>T (p.Gly670=) c.2067C>T (p.Gly689=) c.2016C>T (p.Gly672=) c.2121C>T (p.Gly707=) c.2028C>T (p.Gly676=) c.2127C>T (p.Gly709=) c.2157C>T (p.Gly719=) c.2148C>T (p.Gly716=) c.2118C>T (p.Gly706=) c.2061C>T (p.Gly687=) c.2007C>T (p.Gly669=) c.1800C>T (p.Gly600=) c.2214C>T (p.Gly738=) c.2208C>T (p.Gly736=) c.2205C>T (p.Gly735=) c.2265C>T (p.Gly755=) c.2256C>T (p.Gly752=) c.2175C>T (p.Gly725=) c.2124C>T (p.Gly708=) | gnomAD v4 |
14 | g.33800414G>A | CA389413936 | NPAS3 | c.2107G>A (p.Gly703Ser) c.2116G>A (p.Gly706Ser) c.2007G>A c.793+2833G>A c.2011G>A (p.Gly671Ser) c.2068G>A (p.Gly690Ser) c.2017G>A (p.Gly673Ser) c.2122G>A (p.Gly708Ser) c.2029G>A (p.Gly677Ser) c.2128G>A (p.Gly710Ser) c.2158G>A (p.Gly720Ser) c.2149G>A (p.Gly717Ser) c.2119G>A (p.Gly707Ser) c.2062G>A (p.Gly688Ser) c.2008G>A (p.Gly670Ser) c.1801G>A (p.Gly601Ser) c.2215G>A (p.Gly739Ser) c.2209G>A (p.Gly737Ser) c.2206G>A (p.Gly736Ser) c.2266G>A (p.Gly756Ser) c.2257G>A (p.Gly753Ser) c.2176G>A (p.Gly726Ser) c.2125G>A (p.Gly709Ser) | gnomAD v4 |
14 | g.33800414G>C | CA389413938 | NPAS3 | c.2107G>C (p.Gly703Arg) c.2116G>C (p.Gly706Arg) c.2007G>C c.793+2833G>C c.2011G>C (p.Gly671Arg) c.2068G>C (p.Gly690Arg) c.2017G>C (p.Gly673Arg) c.2122G>C (p.Gly708Arg) c.2029G>C (p.Gly677Arg) c.2128G>C (p.Gly710Arg) c.2158G>C (p.Gly720Arg) c.2149G>C (p.Gly717Arg) c.2119G>C (p.Gly707Arg) c.2062G>C (p.Gly688Arg) c.2008G>C (p.Gly670Arg) c.1801G>C (p.Gly601Arg) c.2215G>C (p.Gly739Arg) c.2209G>C (p.Gly737Arg) c.2206G>C (p.Gly736Arg) c.2266G>C (p.Gly756Arg) c.2257G>C (p.Gly753Arg) c.2176G>C (p.Gly726Arg) c.2125G>C (p.Gly709Arg) | |
14 | g.33800414G>T | CA389413940 | NPAS3 | c.2107G>T (p.Gly703Cys) c.2116G>T (p.Gly706Cys) c.2007G>T c.793+2833G>T c.2011G>T (p.Gly671Cys) c.2068G>T (p.Gly690Cys) c.2017G>T (p.Gly673Cys) c.2122G>T (p.Gly708Cys) c.2029G>T (p.Gly677Cys) c.2128G>T (p.Gly710Cys) c.2158G>T (p.Gly720Cys) c.2149G>T (p.Gly717Cys) c.2119G>T (p.Gly707Cys) c.2062G>T (p.Gly688Cys) c.2008G>T (p.Gly670Cys) c.1801G>T (p.Gly601Cys) c.2215G>T (p.Gly739Cys) c.2209G>T (p.Gly737Cys) c.2206G>T (p.Gly736Cys) c.2266G>T (p.Gly756Cys) c.2257G>T (p.Gly753Cys) c.2176G>T (p.Gly726Cys) c.2125G>T (p.Gly709Cys) | |
14 | g.33800416_33800418del | CA2541428685 | NPAS3 | c.2109_2111del (p.Gly704del) c.2118_2120del (p.Gly707del) c.2009_2011del c.793+2835_793+2837del c.2013_2015del (p.Gly672del) c.2070_2072del (p.Gly691del) c.2019_2021del (p.Gly674del) c.2124_2126del (p.Gly709del) c.2031_2033del (p.Gly678del) c.2130_2132del (p.Gly711del) c.2160_2162del (p.Gly721del) c.2151_2153del (p.Gly718del) c.2121_2123del (p.Gly708del) c.2064_2066del (p.Gly689del) c.2010_2012del (p.Gly671del) c.1803_1805del (p.Gly602del) c.2217_2219del (p.Gly740del) c.2211_2213del (p.Gly738del) c.2208_2210del (p.Gly737del) c.2268_2270del (p.Gly757del) c.2259_2261del (p.Gly754del) c.2178_2180del (p.Gly727del) c.2127_2129del (p.Gly710del) | |
14 | g.33800415G>A | CA389413942 | NPAS3 | c.2108G>A (p.Gly703Asp) c.2117G>A (p.Gly706Asp) c.2008G>A c.793+2834G>A c.2012G>A (p.Gly671Asp) c.2069G>A (p.Gly690Asp) c.2018G>A (p.Gly673Asp) c.2123G>A (p.Gly708Asp) c.2030G>A (p.Gly677Asp) c.2129G>A (p.Gly710Asp) c.2159G>A (p.Gly720Asp) c.2150G>A (p.Gly717Asp) c.2120G>A (p.Gly707Asp) c.2063G>A (p.Gly688Asp) c.2009G>A (p.Gly670Asp) c.1802G>A (p.Gly601Asp) c.2216G>A (p.Gly739Asp) c.2210G>A (p.Gly737Asp) c.2207G>A (p.Gly736Asp) c.2267G>A (p.Gly756Asp) c.2258G>A (p.Gly753Asp) c.2177G>A (p.Gly726Asp) c.2126G>A (p.Gly709Asp) | gnomAD v4 |
14 | g.33800415G>C | CA389413944 | NPAS3 | c.2108G>C (p.Gly703Ala) c.2117G>C (p.Gly706Ala) c.2008G>C c.793+2834G>C c.2012G>C (p.Gly671Ala) c.2069G>C (p.Gly690Ala) c.2018G>C (p.Gly673Ala) c.2123G>C (p.Gly708Ala) c.2030G>C (p.Gly677Ala) c.2129G>C (p.Gly710Ala) c.2159G>C (p.Gly720Ala) c.2150G>C (p.Gly717Ala) c.2120G>C (p.Gly707Ala) c.2063G>C (p.Gly688Ala) c.2009G>C (p.Gly670Ala) c.1802G>C (p.Gly601Ala) c.2216G>C (p.Gly739Ala) c.2210G>C (p.Gly737Ala) c.2207G>C (p.Gly736Ala) c.2267G>C (p.Gly756Ala) c.2258G>C (p.Gly753Ala) c.2177G>C (p.Gly726Ala) c.2126G>C (p.Gly709Ala) | |
14 | g.33800415G= | CA2128327439 | NPAS3 | c.2108G= (p.Gly703=) c.2117G= (p.Gly706=) c.2008G= c.793+2834G= c.2012G= (p.Gly671=) c.2069G= (p.Gly690=) c.2018G= (p.Gly673=) c.2123G= (p.Gly708=) c.2030G= (p.Gly677=) c.2129G= (p.Gly710=) c.2159G= (p.Gly720=) c.2150G= (p.Gly717=) c.2120G= (p.Gly707=) c.2063G= (p.Gly688=) c.2009G= (p.Gly670=) c.1802G= (p.Gly601=) c.2216G= (p.Gly739=) c.2210G= (p.Gly737=) c.2207G= (p.Gly736=) c.2267G= (p.Gly756=) c.2258G= (p.Gly753=) c.2177G= (p.Gly726=) c.2126G= (p.Gly709=) | |
14 | g.33800415G>T | CA389413946 | NPAS3 | c.2108G>T (p.Gly703Val) c.2117G>T (p.Gly706Val) c.2008G>T c.793+2834G>T c.2012G>T (p.Gly671Val) c.2069G>T (p.Gly690Val) c.2018G>T (p.Gly673Val) c.2123G>T (p.Gly708Val) c.2030G>T (p.Gly677Val) c.2129G>T (p.Gly710Val) c.2159G>T (p.Gly720Val) c.2150G>T (p.Gly717Val) c.2120G>T (p.Gly707Val) c.2063G>T (p.Gly688Val) c.2009G>T (p.Gly670Val) c.1802G>T (p.Gly601Val) c.2216G>T (p.Gly739Val) c.2210G>T (p.Gly737Val) c.2207G>T (p.Gly736Val) c.2267G>T (p.Gly756Val) c.2258G>T (p.Gly753Val) c.2177G>T (p.Gly726Val) c.2126G>T (p.Gly709Val) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800416T>A | CA486093122 | NPAS3 | c.2109T>A (p.Gly703=) c.2118T>A (p.Gly706=) c.2009T>A c.793+2835T>A c.2013T>A (p.Gly671=) c.2070T>A (p.Gly690=) c.2019T>A (p.Gly673=) c.2124T>A (p.Gly708=) c.2031T>A (p.Gly677=) c.2130T>A (p.Gly710=) c.2160T>A (p.Gly720=) c.2151T>A (p.Gly717=) c.2121T>A (p.Gly707=) c.2064T>A (p.Gly688=) c.2010T>A (p.Gly670=) c.1803T>A (p.Gly601=) c.2217T>A (p.Gly739=) c.2211T>A (p.Gly737=) c.2208T>A (p.Gly736=) c.2268T>A (p.Gly756=) c.2259T>A (p.Gly753=) c.2178T>A (p.Gly726=) c.2127T>A (p.Gly709=) | |
14 | g.33800416T>C | CA486093123 | NPAS3 | c.2109T>C (p.Gly703=) c.2118T>C (p.Gly706=) c.2009T>C c.793+2835T>C c.2013T>C (p.Gly671=) c.2070T>C (p.Gly690=) c.2019T>C (p.Gly673=) c.2124T>C (p.Gly708=) c.2031T>C (p.Gly677=) c.2130T>C (p.Gly710=) c.2160T>C (p.Gly720=) c.2151T>C (p.Gly717=) c.2121T>C (p.Gly707=) c.2064T>C (p.Gly688=) c.2010T>C (p.Gly670=) c.1803T>C (p.Gly601=) c.2217T>C (p.Gly739=) c.2211T>C (p.Gly737=) c.2208T>C (p.Gly736=) c.2268T>C (p.Gly756=) c.2259T>C (p.Gly753=) c.2178T>C (p.Gly726=) c.2127T>C (p.Gly709=) | |
14 | g.33800416T>G | CA486093124 | NPAS3 | c.2109T>G (p.Gly703=) c.2118T>G (p.Gly706=) c.2009T>G c.793+2835T>G c.2013T>G (p.Gly671=) c.2070T>G (p.Gly690=) c.2019T>G (p.Gly673=) c.2124T>G (p.Gly708=) c.2031T>G (p.Gly677=) c.2130T>G (p.Gly710=) c.2160T>G (p.Gly720=) c.2151T>G (p.Gly717=) c.2121T>G (p.Gly707=) c.2064T>G (p.Gly688=) c.2010T>G (p.Gly670=) c.1803T>G (p.Gly601=) c.2217T>G (p.Gly739=) c.2211T>G (p.Gly737=) c.2208T>G (p.Gly736=) c.2268T>G (p.Gly756=) c.2259T>G (p.Gly753=) c.2178T>G (p.Gly726=) c.2127T>G (p.Gly709=) | dbSNP gnomAD v4 |
14 | g.33800417G>A | CA389413948 | NPAS3 | c.2110G>A (p.Gly704Ser) c.2119G>A (p.Gly707Ser) c.2010G>A c.793+2836G>A c.2014G>A (p.Gly672Ser) c.2071G>A (p.Gly691Ser) c.2020G>A (p.Gly674Ser) c.2125G>A (p.Gly709Ser) c.2032G>A (p.Gly678Ser) c.2131G>A (p.Gly711Ser) c.2161G>A (p.Gly721Ser) c.2152G>A (p.Gly718Ser) c.2122G>A (p.Gly708Ser) c.2065G>A (p.Gly689Ser) c.2011G>A (p.Gly671Ser) c.1804G>A (p.Gly602Ser) c.2218G>A (p.Gly740Ser) c.2212G>A (p.Gly738Ser) c.2209G>A (p.Gly737Ser) c.2269G>A (p.Gly757Ser) c.2260G>A (p.Gly754Ser) c.2179G>A (p.Gly727Ser) c.2128G>A (p.Gly710Ser) | gnomAD v4 |
14 | g.33800417G>C | CA389413950 | NPAS3 | c.2110G>C (p.Gly704Arg) c.2119G>C (p.Gly707Arg) c.2010G>C c.793+2836G>C c.2014G>C (p.Gly672Arg) c.2071G>C (p.Gly691Arg) c.2020G>C (p.Gly674Arg) c.2125G>C (p.Gly709Arg) c.2032G>C (p.Gly678Arg) c.2131G>C (p.Gly711Arg) c.2161G>C (p.Gly721Arg) c.2152G>C (p.Gly718Arg) c.2122G>C (p.Gly708Arg) c.2065G>C (p.Gly689Arg) c.2011G>C (p.Gly671Arg) c.1804G>C (p.Gly602Arg) c.2218G>C (p.Gly740Arg) c.2212G>C (p.Gly738Arg) c.2209G>C (p.Gly737Arg) c.2269G>C (p.Gly757Arg) c.2260G>C (p.Gly754Arg) c.2179G>C (p.Gly727Arg) c.2128G>C (p.Gly710Arg) | gnomAD v3 gnomAD v4 |
14 | g.33800417G>T | CA389413952 | NPAS3 | c.2110G>T (p.Gly704Cys) c.2119G>T (p.Gly707Cys) c.2010G>T c.793+2836G>T c.2014G>T (p.Gly672Cys) c.2071G>T (p.Gly691Cys) c.2020G>T (p.Gly674Cys) c.2125G>T (p.Gly709Cys) c.2032G>T (p.Gly678Cys) c.2131G>T (p.Gly711Cys) c.2161G>T (p.Gly721Cys) c.2152G>T (p.Gly718Cys) c.2122G>T (p.Gly708Cys) c.2065G>T (p.Gly689Cys) c.2011G>T (p.Gly671Cys) c.1804G>T (p.Gly602Cys) c.2218G>T (p.Gly740Cys) c.2212G>T (p.Gly738Cys) c.2209G>T (p.Gly737Cys) c.2269G>T (p.Gly757Cys) c.2260G>T (p.Gly754Cys) c.2179G>T (p.Gly727Cys) c.2128G>T (p.Gly710Cys) | |
14 | g.33800418G>A | CA7150945 | NPAS3 | c.2111G>A (p.Gly704Asp) c.2120G>A (p.Gly707Asp) c.2011G>A c.793+2837G>A c.2015G>A (p.Gly672Asp) c.2072G>A (p.Gly691Asp) c.2021G>A (p.Gly674Asp) c.2126G>A (p.Gly709Asp) c.2033G>A (p.Gly678Asp) c.2132G>A (p.Gly711Asp) c.2162G>A (p.Gly721Asp) c.2153G>A (p.Gly718Asp) c.2123G>A (p.Gly708Asp) c.2066G>A (p.Gly689Asp) c.2012G>A (p.Gly671Asp) c.1805G>A (p.Gly602Asp) c.2219G>A (p.Gly740Asp) c.2213G>A (p.Gly738Asp) c.2210G>A (p.Gly737Asp) c.2270G>A (p.Gly757Asp) c.2261G>A (p.Gly754Asp) c.2180G>A (p.Gly727Asp) c.2129G>A (p.Gly710Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800418G>C | CA389413955 | NPAS3 | c.2111G>C (p.Gly704Ala) c.2120G>C (p.Gly707Ala) c.2011G>C c.793+2837G>C c.2015G>C (p.Gly672Ala) c.2072G>C (p.Gly691Ala) c.2021G>C (p.Gly674Ala) c.2126G>C (p.Gly709Ala) c.2033G>C (p.Gly678Ala) c.2132G>C (p.Gly711Ala) c.2162G>C (p.Gly721Ala) c.2153G>C (p.Gly718Ala) c.2123G>C (p.Gly708Ala) c.2066G>C (p.Gly689Ala) c.2012G>C (p.Gly671Ala) c.1805G>C (p.Gly602Ala) c.2219G>C (p.Gly740Ala) c.2213G>C (p.Gly738Ala) c.2210G>C (p.Gly737Ala) c.2270G>C (p.Gly757Ala) c.2261G>C (p.Gly754Ala) c.2180G>C (p.Gly727Ala) c.2129G>C (p.Gly710Ala) | |
14 | g.33800418G= | CA2128327442 | NPAS3 | c.2111G= (p.Gly704=) c.2120G= (p.Gly707=) c.2011G= c.793+2837G= c.2015G= (p.Gly672=) c.2072G= (p.Gly691=) c.2021G= (p.Gly674=) c.2126G= (p.Gly709=) c.2033G= (p.Gly678=) c.2132G= (p.Gly711=) c.2162G= (p.Gly721=) c.2153G= (p.Gly718=) c.2123G= (p.Gly708=) c.2066G= (p.Gly689=) c.2012G= (p.Gly671=) c.1805G= (p.Gly602=) c.2219G= (p.Gly740=) c.2213G= (p.Gly738=) c.2210G= (p.Gly737=) c.2270G= (p.Gly757=) c.2261G= (p.Gly754=) c.2180G= (p.Gly727=) c.2129G= (p.Gly710=) | |
14 | g.33800418G>T | CA389413957 | NPAS3 | c.2111G>T (p.Gly704Val) c.2120G>T (p.Gly707Val) c.2011G>T c.793+2837G>T c.2015G>T (p.Gly672Val) c.2072G>T (p.Gly691Val) c.2021G>T (p.Gly674Val) c.2126G>T (p.Gly709Val) c.2033G>T (p.Gly678Val) c.2132G>T (p.Gly711Val) c.2162G>T (p.Gly721Val) c.2153G>T (p.Gly718Val) c.2123G>T (p.Gly708Val) c.2066G>T (p.Gly689Val) c.2012G>T (p.Gly671Val) c.1805G>T (p.Gly602Val) c.2219G>T (p.Gly740Val) c.2213G>T (p.Gly738Val) c.2210G>T (p.Gly737Val) c.2270G>T (p.Gly757Val) c.2261G>T (p.Gly754Val) c.2180G>T (p.Gly727Val) c.2129G>T (p.Gly710Val) | gnomAD v4 |
14 | g.33800419C>A | CA486093129 | NPAS3 | c.2112C>A (p.Gly704=) c.2121C>A (p.Gly707=) c.2012C>A c.793+2838C>A c.2016C>A (p.Gly672=) c.2073C>A (p.Gly691=) c.2022C>A (p.Gly674=) c.2127C>A (p.Gly709=) c.2034C>A (p.Gly678=) c.2133C>A (p.Gly711=) c.2163C>A (p.Gly721=) c.2154C>A (p.Gly718=) c.2124C>A (p.Gly708=) c.2067C>A (p.Gly689=) c.2013C>A (p.Gly671=) c.1806C>A (p.Gly602=) c.2220C>A (p.Gly740=) c.2214C>A (p.Gly738=) c.2211C>A (p.Gly737=) c.2271C>A (p.Gly757=) c.2262C>A (p.Gly754=) c.2181C>A (p.Gly727=) c.2130C>A (p.Gly710=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800419C= | CA2128327445 | NPAS3 | c.2112C= (p.Gly704=) c.2121C= (p.Gly707=) c.2012C= c.793+2838C= c.2016C= (p.Gly672=) c.2073C= (p.Gly691=) c.2022C= (p.Gly674=) c.2127C= (p.Gly709=) c.2034C= (p.Gly678=) c.2133C= (p.Gly711=) c.2163C= (p.Gly721=) c.2154C= (p.Gly718=) c.2124C= (p.Gly708=) c.2067C= (p.Gly689=) c.2013C= (p.Gly671=) c.1806C= (p.Gly602=) c.2220C= (p.Gly740=) c.2214C= (p.Gly738=) c.2211C= (p.Gly737=) c.2271C= (p.Gly757=) c.2262C= (p.Gly754=) c.2181C= (p.Gly727=) c.2130C= (p.Gly710=) | |
14 | g.33800419C>G | CA486093130 | NPAS3 | c.2112C>G (p.Gly704=) c.2121C>G (p.Gly707=) c.2012C>G c.793+2838C>G c.2016C>G (p.Gly672=) c.2073C>G (p.Gly691=) c.2022C>G (p.Gly674=) c.2127C>G (p.Gly709=) c.2034C>G (p.Gly678=) c.2133C>G (p.Gly711=) c.2163C>G (p.Gly721=) c.2154C>G (p.Gly718=) c.2124C>G (p.Gly708=) c.2067C>G (p.Gly689=) c.2013C>G (p.Gly671=) c.1806C>G (p.Gly602=) c.2220C>G (p.Gly740=) c.2214C>G (p.Gly738=) c.2211C>G (p.Gly737=) c.2271C>G (p.Gly757=) c.2262C>G (p.Gly754=) c.2181C>G (p.Gly727=) c.2130C>G (p.Gly710=) | dbSNP gnomAD v4 |
14 | g.33800419C>T | CA258719138 | NPAS3 | c.2112C>T (p.Gly704=) c.2121C>T (p.Gly707=) c.2012C>T c.793+2838C>T c.2016C>T (p.Gly672=) c.2073C>T (p.Gly691=) c.2022C>T (p.Gly674=) c.2127C>T (p.Gly709=) c.2034C>T (p.Gly678=) c.2133C>T (p.Gly711=) c.2163C>T (p.Gly721=) c.2154C>T (p.Gly718=) c.2124C>T (p.Gly708=) c.2067C>T (p.Gly689=) c.2013C>T (p.Gly671=) c.1806C>T (p.Gly602=) c.2220C>T (p.Gly740=) c.2214C>T (p.Gly738=) c.2211C>T (p.Gly737=) c.2271C>T (p.Gly757=) c.2262C>T (p.Gly754=) c.2181C>T (p.Gly727=) c.2130C>T (p.Gly710=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800420G>A | CA7150946 | NPAS3 | c.2113G>A (p.Gly705Arg) c.2122G>A (p.Gly708Arg) c.2013G>A c.793+2839G>A c.2017G>A (p.Gly673Arg) c.2074G>A (p.Gly692Arg) c.2023G>A (p.Gly675Arg) c.2128G>A (p.Gly710Arg) c.2035G>A (p.Gly679Arg) c.2134G>A (p.Gly712Arg) c.2164G>A (p.Gly722Arg) c.2155G>A (p.Gly719Arg) c.2125G>A (p.Gly709Arg) c.2068G>A (p.Gly690Arg) c.2014G>A (p.Gly672Arg) c.1807G>A (p.Gly603Arg) c.2221G>A (p.Gly741Arg) c.2215G>A (p.Gly739Arg) c.2212G>A (p.Gly738Arg) c.2272G>A (p.Gly758Arg) c.2263G>A (p.Gly755Arg) c.2182G>A (p.Gly728Arg) c.2131G>A (p.Gly711Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800420G>C | CA389413962 | NPAS3 | c.2113G>C (p.Gly705Arg) c.2122G>C (p.Gly708Arg) c.2013G>C c.793+2839G>C c.2017G>C (p.Gly673Arg) c.2074G>C (p.Gly692Arg) c.2023G>C (p.Gly675Arg) c.2128G>C (p.Gly710Arg) c.2035G>C (p.Gly679Arg) c.2134G>C (p.Gly712Arg) c.2164G>C (p.Gly722Arg) c.2155G>C (p.Gly719Arg) c.2125G>C (p.Gly709Arg) c.2068G>C (p.Gly690Arg) c.2014G>C (p.Gly672Arg) c.1807G>C (p.Gly603Arg) c.2221G>C (p.Gly741Arg) c.2215G>C (p.Gly739Arg) c.2212G>C (p.Gly738Arg) c.2272G>C (p.Gly758Arg) c.2263G>C (p.Gly755Arg) c.2182G>C (p.Gly728Arg) c.2131G>C (p.Gly711Arg) | |
14 | g.33800420G= | CA2128327448 | NPAS3 | c.2113G= (p.Gly705=) c.2122G= (p.Gly708=) c.2013G= c.793+2839G= c.2017G= (p.Gly673=) c.2074G= (p.Gly692=) c.2023G= (p.Gly675=) c.2128G= (p.Gly710=) c.2035G= (p.Gly679=) c.2134G= (p.Gly712=) c.2164G= (p.Gly722=) c.2155G= (p.Gly719=) c.2125G= (p.Gly709=) c.2068G= (p.Gly690=) c.2014G= (p.Gly672=) c.1807G= (p.Gly603=) c.2221G= (p.Gly741=) c.2215G= (p.Gly739=) c.2212G= (p.Gly738=) c.2272G= (p.Gly758=) c.2263G= (p.Gly755=) c.2182G= (p.Gly728=) c.2131G= (p.Gly711=) | |
14 | g.33800420G>T | CA389413960 | NPAS3 | c.2113G>T (p.Gly705Trp) c.2122G>T (p.Gly708Trp) c.2013G>T c.793+2839G>T c.2017G>T (p.Gly673Trp) c.2074G>T (p.Gly692Trp) c.2023G>T (p.Gly675Trp) c.2128G>T (p.Gly710Trp) c.2035G>T (p.Gly679Trp) c.2134G>T (p.Gly712Trp) c.2164G>T (p.Gly722Trp) c.2155G>T (p.Gly719Trp) c.2125G>T (p.Gly709Trp) c.2068G>T (p.Gly690Trp) c.2014G>T (p.Gly672Trp) c.1807G>T (p.Gly603Trp) c.2221G>T (p.Gly741Trp) c.2215G>T (p.Gly739Trp) c.2212G>T (p.Gly738Trp) c.2272G>T (p.Gly758Trp) c.2263G>T (p.Gly755Trp) c.2182G>T (p.Gly728Trp) c.2131G>T (p.Gly711Trp) | |
14 | g.33800425dup | CA613803864 | NPAS3 | c.2118dup (p.Leu707AlafsTer?) c.2127dup (p.Leu710AlafsTer?) c.2018dup c.793+2844dup c.2022dup (p.Leu675AlafsTer?) c.2079dup (p.Leu694AlafsTer?) c.2028dup (p.Leu677AlafsTer?) c.2133dup (p.Leu712AlafsTer?) c.2040dup (p.Leu681AlafsTer?) c.2139dup (p.Leu714AlafsTer?) c.2169dup (p.Leu724AlafsTer?) c.2160dup (p.Leu721AlafsTer?) c.2130dup (p.Leu711AlafsTer?) c.2073dup (p.Leu692AlafsTer?) c.2019dup (p.Leu674AlafsTer?) c.1812dup (p.Leu605AlafsTer?) c.2226dup (p.Leu743AlafsTer?) c.2220dup (p.Leu741AlafsTer?) c.2217dup (p.Leu740AlafsTer?) c.2277dup (p.Leu760AlafsTer?) c.2268dup (p.Leu757AlafsTer?) c.2187dup (p.Leu730AlafsTer?) c.2136dup (p.Leu713AlafsTer?) | gnomAD v2 gnomAD v4 |
14 | g.33800425del | CA645582790 | NPAS3 | c.2118del (p.Leu707CysfsTer?) c.2127del (p.Leu710CysfsTer?) c.2018del c.793+2844del c.2022del (p.Leu675CysfsTer?) c.2079del (p.Leu694CysfsTer?) c.2028del (p.Leu677CysfsTer?) c.2133del (p.Leu712CysfsTer?) c.2040del (p.Leu681CysfsTer?) c.2139del (p.Leu714CysfsTer?) c.2169del (p.Leu724CysfsTer?) c.2160del (p.Leu721CysfsTer?) c.2130del (p.Leu711CysfsTer?) c.2073del (p.Leu692CysfsTer?) c.2019del (p.Leu674CysfsTer?) c.1812del (p.Leu605CysfsTer?) c.2226del (p.Leu743CysfsTer?) c.2220del (p.Leu741CysfsTer?) c.2217del (p.Leu740CysfsTer?) c.2277del (p.Leu760CysfsTer?) c.2268del (p.Leu757CysfsTer?) c.2187del (p.Leu730CysfsTer?) c.2136del (p.Leu713CysfsTer?) | gnomAD v4 COSMIC |
14 | g.33800421G>A | CA389413967 | NPAS3 | c.2114G>A (p.Gly705Glu) c.2123G>A (p.Gly708Glu) c.2014G>A c.793+2840G>A c.2018G>A (p.Gly673Glu) c.2075G>A (p.Gly692Glu) c.2024G>A (p.Gly675Glu) c.2129G>A (p.Gly710Glu) c.2036G>A (p.Gly679Glu) c.2135G>A (p.Gly712Glu) c.2165G>A (p.Gly722Glu) c.2156G>A (p.Gly719Glu) c.2126G>A (p.Gly709Glu) c.2069G>A (p.Gly690Glu) c.2015G>A (p.Gly672Glu) c.1808G>A (p.Gly603Glu) c.2222G>A (p.Gly741Glu) c.2216G>A (p.Gly739Glu) c.2213G>A (p.Gly738Glu) c.2273G>A (p.Gly758Glu) c.2264G>A (p.Gly755Glu) c.2183G>A (p.Gly728Glu) c.2132G>A (p.Gly711Glu) | gnomAD v4 |
14 | g.33800421G>C | CA7150947 | NPAS3 | c.2114G>C (p.Gly705Ala) c.2123G>C (p.Gly708Ala) c.2014G>C c.793+2840G>C c.2018G>C (p.Gly673Ala) c.2075G>C (p.Gly692Ala) c.2024G>C (p.Gly675Ala) c.2129G>C (p.Gly710Ala) c.2036G>C (p.Gly679Ala) c.2135G>C (p.Gly712Ala) c.2165G>C (p.Gly722Ala) c.2156G>C (p.Gly719Ala) c.2126G>C (p.Gly709Ala) c.2069G>C (p.Gly690Ala) c.2015G>C (p.Gly672Ala) c.1808G>C (p.Gly603Ala) c.2222G>C (p.Gly741Ala) c.2216G>C (p.Gly739Ala) c.2213G>C (p.Gly738Ala) c.2273G>C (p.Gly758Ala) c.2264G>C (p.Gly755Ala) c.2183G>C (p.Gly728Ala) c.2132G>C (p.Gly711Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800421G= | CA2128327450 | NPAS3 | c.2114G= (p.Gly705=) c.2123G= (p.Gly708=) c.2014G= c.793+2840G= c.2018G= (p.Gly673=) c.2075G= (p.Gly692=) c.2024G= (p.Gly675=) c.2129G= (p.Gly710=) c.2036G= (p.Gly679=) c.2135G= (p.Gly712=) c.2165G= (p.Gly722=) c.2156G= (p.Gly719=) c.2126G= (p.Gly709=) c.2069G= (p.Gly690=) c.2015G= (p.Gly672=) c.1808G= (p.Gly603=) c.2222G= (p.Gly741=) c.2216G= (p.Gly739=) c.2213G= (p.Gly738=) c.2273G= (p.Gly758=) c.2264G= (p.Gly755=) c.2183G= (p.Gly728=) c.2132G= (p.Gly711=) | |
14 | g.33800421G>T | CA389413965 | NPAS3 | c.2114G>T (p.Gly705Val) c.2123G>T (p.Gly708Val) c.2014G>T c.793+2840G>T c.2018G>T (p.Gly673Val) c.2075G>T (p.Gly692Val) c.2024G>T (p.Gly675Val) c.2129G>T (p.Gly710Val) c.2036G>T (p.Gly679Val) c.2135G>T (p.Gly712Val) c.2165G>T (p.Gly722Val) c.2156G>T (p.Gly719Val) c.2126G>T (p.Gly709Val) c.2069G>T (p.Gly690Val) c.2015G>T (p.Gly672Val) c.1808G>T (p.Gly603Val) c.2222G>T (p.Gly741Val) c.2216G>T (p.Gly739Val) c.2213G>T (p.Gly738Val) c.2273G>T (p.Gly758Val) c.2264G>T (p.Gly755Val) c.2183G>T (p.Gly728Val) c.2132G>T (p.Gly711Val) | |
14 | g.33800422G>A | CA7150948 | NPAS3 | c.2115G>A (p.Gly705=) c.2124G>A (p.Gly708=) c.2015G>A c.793+2841G>A c.2019G>A (p.Gly673=) c.2076G>A (p.Gly692=) c.2025G>A (p.Gly675=) c.2130G>A (p.Gly710=) c.2037G>A (p.Gly679=) c.2136G>A (p.Gly712=) c.2166G>A (p.Gly722=) c.2157G>A (p.Gly719=) c.2127G>A (p.Gly709=) c.2070G>A (p.Gly690=) c.2016G>A (p.Gly672=) c.1809G>A (p.Gly603=) c.2223G>A (p.Gly741=) c.2217G>A (p.Gly739=) c.2214G>A (p.Gly738=) c.2274G>A (p.Gly758=) c.2265G>A (p.Gly755=) c.2184G>A (p.Gly728=) c.2133G>A (p.Gly711=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800422G>C | CA486093132 | NPAS3 | c.2115G>C (p.Gly705=) c.2124G>C (p.Gly708=) c.2015G>C c.793+2841G>C c.2019G>C (p.Gly673=) c.2076G>C (p.Gly692=) c.2025G>C (p.Gly675=) c.2130G>C (p.Gly710=) c.2037G>C (p.Gly679=) c.2136G>C (p.Gly712=) c.2166G>C (p.Gly722=) c.2157G>C (p.Gly719=) c.2127G>C (p.Gly709=) c.2070G>C (p.Gly690=) c.2016G>C (p.Gly672=) c.1809G>C (p.Gly603=) c.2223G>C (p.Gly741=) c.2217G>C (p.Gly739=) c.2214G>C (p.Gly738=) c.2274G>C (p.Gly758=) c.2265G>C (p.Gly755=) c.2184G>C (p.Gly728=) c.2133G>C (p.Gly711=) | |
14 | g.33800422G= | CA2128327453 | NPAS3 | c.2115G= (p.Gly705=) c.2124G= (p.Gly708=) c.2015G= c.793+2841G= c.2019G= (p.Gly673=) c.2076G= (p.Gly692=) c.2025G= (p.Gly675=) c.2130G= (p.Gly710=) c.2037G= (p.Gly679=) c.2136G= (p.Gly712=) c.2166G= (p.Gly722=) c.2157G= (p.Gly719=) c.2127G= (p.Gly709=) c.2070G= (p.Gly690=) c.2016G= (p.Gly672=) c.1809G= (p.Gly603=) c.2223G= (p.Gly741=) c.2217G= (p.Gly739=) c.2214G= (p.Gly738=) c.2274G= (p.Gly758=) c.2265G= (p.Gly755=) c.2184G= (p.Gly728=) c.2133G= (p.Gly711=) | |
14 | g.33800422G>T | CA486093134 | NPAS3 | c.2115G>T (p.Gly705=) c.2124G>T (p.Gly708=) c.2015G>T c.793+2841G>T c.2019G>T (p.Gly673=) c.2076G>T (p.Gly692=) c.2025G>T (p.Gly675=) c.2130G>T (p.Gly710=) c.2037G>T (p.Gly679=) c.2136G>T (p.Gly712=) c.2166G>T (p.Gly722=) c.2157G>T (p.Gly719=) c.2127G>T (p.Gly709=) c.2070G>T (p.Gly690=) c.2016G>T (p.Gly672=) c.1809G>T (p.Gly603=) c.2223G>T (p.Gly741=) c.2217G>T (p.Gly739=) c.2214G>T (p.Gly738=) c.2274G>T (p.Gly758=) c.2265G>T (p.Gly755=) c.2184G>T (p.Gly728=) c.2133G>T (p.Gly711=) | dbSNP |
14 | g.33800423G>A | CA389413970 | NPAS3 | c.2116G>A (p.Gly706Arg) c.2125G>A (p.Gly709Arg) c.2016G>A c.793+2842G>A c.2020G>A (p.Gly674Arg) c.2077G>A (p.Gly693Arg) c.2026G>A (p.Gly676Arg) c.2131G>A (p.Gly711Arg) c.2038G>A (p.Gly680Arg) c.2137G>A (p.Gly713Arg) c.2167G>A (p.Gly723Arg) c.2158G>A (p.Gly720Arg) c.2128G>A (p.Gly710Arg) c.2071G>A (p.Gly691Arg) c.2017G>A (p.Gly673Arg) c.1810G>A (p.Gly604Arg) c.2224G>A (p.Gly742Arg) c.2218G>A (p.Gly740Arg) c.2215G>A (p.Gly739Arg) c.2275G>A (p.Gly759Arg) c.2266G>A (p.Gly756Arg) c.2185G>A (p.Gly729Arg) c.2134G>A (p.Gly712Arg) | gnomAD v4 |
14 | g.33800423G>C | CA389413972 | NPAS3 | c.2116G>C (p.Gly706Arg) c.2125G>C (p.Gly709Arg) c.2016G>C c.793+2842G>C c.2020G>C (p.Gly674Arg) c.2077G>C (p.Gly693Arg) c.2026G>C (p.Gly676Arg) c.2131G>C (p.Gly711Arg) c.2038G>C (p.Gly680Arg) c.2137G>C (p.Gly713Arg) c.2167G>C (p.Gly723Arg) c.2158G>C (p.Gly720Arg) c.2128G>C (p.Gly710Arg) c.2071G>C (p.Gly691Arg) c.2017G>C (p.Gly673Arg) c.1810G>C (p.Gly604Arg) c.2224G>C (p.Gly742Arg) c.2218G>C (p.Gly740Arg) c.2215G>C (p.Gly739Arg) c.2275G>C (p.Gly759Arg) c.2266G>C (p.Gly756Arg) c.2185G>C (p.Gly729Arg) c.2134G>C (p.Gly712Arg) | |
14 | g.33800423G>T | CA389413974 | NPAS3 | c.2116G>T (p.Gly706Trp) c.2125G>T (p.Gly709Trp) c.2016G>T c.793+2842G>T c.2020G>T (p.Gly674Trp) c.2077G>T (p.Gly693Trp) c.2026G>T (p.Gly676Trp) c.2131G>T (p.Gly711Trp) c.2038G>T (p.Gly680Trp) c.2137G>T (p.Gly713Trp) c.2167G>T (p.Gly723Trp) c.2158G>T (p.Gly720Trp) c.2128G>T (p.Gly710Trp) c.2071G>T (p.Gly691Trp) c.2017G>T (p.Gly673Trp) c.1810G>T (p.Gly604Trp) c.2224G>T (p.Gly742Trp) c.2218G>T (p.Gly740Trp) c.2215G>T (p.Gly739Trp) c.2275G>T (p.Gly759Trp) c.2266G>T (p.Gly756Trp) c.2185G>T (p.Gly729Trp) c.2134G>T (p.Gly712Trp) | gnomAD v4 |
14 | g.33800424G>A | CA7150949 | NPAS3 | c.2117G>A (p.Gly706Glu) c.2126G>A (p.Gly709Glu) c.2017G>A c.793+2843G>A c.2021G>A (p.Gly674Glu) c.2078G>A (p.Gly693Glu) c.2027G>A (p.Gly676Glu) c.2132G>A (p.Gly711Glu) c.2039G>A (p.Gly680Glu) c.2138G>A (p.Gly713Glu) c.2168G>A (p.Gly723Glu) c.2159G>A (p.Gly720Glu) c.2129G>A (p.Gly710Glu) c.2072G>A (p.Gly691Glu) c.2018G>A (p.Gly673Glu) c.1811G>A (p.Gly604Glu) c.2225G>A (p.Gly742Glu) c.2219G>A (p.Gly740Glu) c.2216G>A (p.Gly739Glu) c.2276G>A (p.Gly759Glu) c.2267G>A (p.Gly756Glu) c.2186G>A (p.Gly729Glu) c.2135G>A (p.Gly712Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800424G>C | CA389413976 | NPAS3 | c.2117G>C (p.Gly706Ala) c.2126G>C (p.Gly709Ala) c.2017G>C c.793+2843G>C c.2021G>C (p.Gly674Ala) c.2078G>C (p.Gly693Ala) c.2027G>C (p.Gly676Ala) c.2132G>C (p.Gly711Ala) c.2039G>C (p.Gly680Ala) c.2138G>C (p.Gly713Ala) c.2168G>C (p.Gly723Ala) c.2159G>C (p.Gly720Ala) c.2129G>C (p.Gly710Ala) c.2072G>C (p.Gly691Ala) c.2018G>C (p.Gly673Ala) c.1811G>C (p.Gly604Ala) c.2225G>C (p.Gly742Ala) c.2219G>C (p.Gly740Ala) c.2216G>C (p.Gly739Ala) c.2276G>C (p.Gly759Ala) c.2267G>C (p.Gly756Ala) c.2186G>C (p.Gly729Ala) c.2135G>C (p.Gly712Ala) | dbSNP |
14 | g.33800424G= | CA2128327463 | NPAS3 | c.2117G= (p.Gly706=) c.2126G= (p.Gly709=) c.2017G= c.793+2843G= c.2021G= (p.Gly674=) c.2078G= (p.Gly693=) c.2027G= (p.Gly676=) c.2132G= (p.Gly711=) c.2039G= (p.Gly680=) c.2138G= (p.Gly713=) c.2168G= (p.Gly723=) c.2159G= (p.Gly720=) c.2129G= (p.Gly710=) c.2072G= (p.Gly691=) c.2018G= (p.Gly673=) c.1811G= (p.Gly604=) c.2225G= (p.Gly742=) c.2219G= (p.Gly740=) c.2216G= (p.Gly739=) c.2276G= (p.Gly759=) c.2267G= (p.Gly756=) c.2186G= (p.Gly729=) c.2135G= (p.Gly712=) | |
14 | g.33800424G>T | CA389413978 | NPAS3 | c.2117G>T (p.Gly706Val) c.2126G>T (p.Gly709Val) c.2017G>T c.793+2843G>T c.2021G>T (p.Gly674Val) c.2078G>T (p.Gly693Val) c.2027G>T (p.Gly676Val) c.2132G>T (p.Gly711Val) c.2039G>T (p.Gly680Val) c.2138G>T (p.Gly713Val) c.2168G>T (p.Gly723Val) c.2159G>T (p.Gly720Val) c.2129G>T (p.Gly710Val) c.2072G>T (p.Gly691Val) c.2018G>T (p.Gly673Val) c.1811G>T (p.Gly604Val) c.2225G>T (p.Gly742Val) c.2219G>T (p.Gly740Val) c.2216G>T (p.Gly739Val) c.2276G>T (p.Gly759Val) c.2267G>T (p.Gly756Val) c.2186G>T (p.Gly729Val) c.2135G>T (p.Gly712Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800425G>A | CA486093138 | NPAS3 | c.2118G>A (p.Gly706=) c.2127G>A (p.Gly709=) c.2018G>A c.793+2844G>A c.2022G>A (p.Gly674=) c.2079G>A (p.Gly693=) c.2028G>A (p.Gly676=) c.2133G>A (p.Gly711=) c.2040G>A (p.Gly680=) c.2139G>A (p.Gly713=) c.2169G>A (p.Gly723=) c.2160G>A (p.Gly720=) c.2130G>A (p.Gly710=) c.2073G>A (p.Gly691=) c.2019G>A (p.Gly673=) c.1812G>A (p.Gly604=) c.2226G>A (p.Gly742=) c.2220G>A (p.Gly740=) c.2217G>A (p.Gly739=) c.2277G>A (p.Gly759=) c.2268G>A (p.Gly756=) c.2187G>A (p.Gly729=) c.2136G>A (p.Gly712=) | dbSNP gnomAD v4 |
14 | g.33800425G>C | CA486093139 | NPAS3 | c.2118G>C (p.Gly706=) c.2127G>C (p.Gly709=) c.2018G>C c.793+2844G>C c.2022G>C (p.Gly674=) c.2079G>C (p.Gly693=) c.2028G>C (p.Gly676=) c.2133G>C (p.Gly711=) c.2040G>C (p.Gly680=) c.2139G>C (p.Gly713=) c.2169G>C (p.Gly723=) c.2160G>C (p.Gly720=) c.2130G>C (p.Gly710=) c.2073G>C (p.Gly691=) c.2019G>C (p.Gly673=) c.1812G>C (p.Gly604=) c.2226G>C (p.Gly742=) c.2220G>C (p.Gly740=) c.2217G>C (p.Gly739=) c.2277G>C (p.Gly759=) c.2268G>C (p.Gly756=) c.2187G>C (p.Gly729=) c.2136G>C (p.Gly712=) | gnomAD v4 |
14 | g.33800425G= | CA2128327466 | NPAS3 | c.2118G= (p.Gly706=) c.2127G= (p.Gly709=) c.2018G= c.793+2844G= c.2022G= (p.Gly674=) c.2079G= (p.Gly693=) c.2028G= (p.Gly676=) c.2133G= (p.Gly711=) c.2040G= (p.Gly680=) c.2139G= (p.Gly713=) c.2169G= (p.Gly723=) c.2160G= (p.Gly720=) c.2130G= (p.Gly710=) c.2073G= (p.Gly691=) c.2019G= (p.Gly673=) c.1812G= (p.Gly604=) c.2226G= (p.Gly742=) c.2220G= (p.Gly740=) c.2217G= (p.Gly739=) c.2277G= (p.Gly759=) c.2268G= (p.Gly756=) c.2187G= (p.Gly729=) c.2136G= (p.Gly712=) | |
14 | g.33800425G>T | CA486093140 | NPAS3 | c.2118G>T (p.Gly706=) c.2127G>T (p.Gly709=) c.2018G>T c.793+2844G>T c.2022G>T (p.Gly674=) c.2079G>T (p.Gly693=) c.2028G>T (p.Gly676=) c.2133G>T (p.Gly711=) c.2040G>T (p.Gly680=) c.2139G>T (p.Gly713=) c.2169G>T (p.Gly723=) c.2160G>T (p.Gly720=) c.2130G>T (p.Gly710=) c.2073G>T (p.Gly691=) c.2019G>T (p.Gly673=) c.1812G>T (p.Gly604=) c.2226G>T (p.Gly742=) c.2220G>T (p.Gly740=) c.2217G>T (p.Gly739=) c.2277G>T (p.Gly759=) c.2268G>T (p.Gly756=) c.2187G>T (p.Gly729=) c.2136G>T (p.Gly712=) | gnomAD v4 |
14 | g.33800426C>A | CA389413981 | NPAS3 | c.2119C>A (p.Leu707Met) c.2128C>A (p.Leu710Met) c.2019C>A c.793+2845C>A c.2023C>A (p.Leu675Met) c.2080C>A (p.Leu694Met) c.2029C>A (p.Leu677Met) c.2134C>A (p.Leu712Met) c.2041C>A (p.Leu681Met) c.2140C>A (p.Leu714Met) c.2170C>A (p.Leu724Met) c.2161C>A (p.Leu721Met) c.2131C>A (p.Leu711Met) c.2074C>A (p.Leu692Met) c.2020C>A (p.Leu674Met) c.1813C>A (p.Leu605Met) c.2227C>A (p.Leu743Met) c.2221C>A (p.Leu741Met) c.2218C>A (p.Leu740Met) c.2278C>A (p.Leu760Met) c.2269C>A (p.Leu757Met) c.2188C>A (p.Leu730Met) c.2137C>A (p.Leu713Met) | gnomAD v4 |
14 | g.33800426C= | CA2128327469 | NPAS3 | c.2119C= (p.Leu707=) c.2128C= (p.Leu710=) c.2019C= c.793+2845C= c.2023C= (p.Leu675=) c.2080C= (p.Leu694=) c.2029C= (p.Leu677=) c.2134C= (p.Leu712=) c.2041C= (p.Leu681=) c.2140C= (p.Leu714=) c.2170C= (p.Leu724=) c.2161C= (p.Leu721=) c.2131C= (p.Leu711=) c.2074C= (p.Leu692=) c.2020C= (p.Leu674=) c.1813C= (p.Leu605=) c.2227C= (p.Leu743=) c.2221C= (p.Leu741=) c.2218C= (p.Leu740=) c.2278C= (p.Leu760=) c.2269C= (p.Leu757=) c.2188C= (p.Leu730=) c.2137C= (p.Leu713=) | |
14 | g.33800426C>G | CA389413982 | NPAS3 | c.2119C>G (p.Leu707Val) c.2128C>G (p.Leu710Val) c.2019C>G c.793+2845C>G c.2023C>G (p.Leu675Val) c.2080C>G (p.Leu694Val) c.2029C>G (p.Leu677Val) c.2134C>G (p.Leu712Val) c.2041C>G (p.Leu681Val) c.2140C>G (p.Leu714Val) c.2170C>G (p.Leu724Val) c.2161C>G (p.Leu721Val) c.2131C>G (p.Leu711Val) c.2074C>G (p.Leu692Val) c.2020C>G (p.Leu674Val) c.1813C>G (p.Leu605Val) c.2227C>G (p.Leu743Val) c.2221C>G (p.Leu741Val) c.2218C>G (p.Leu740Val) c.2278C>G (p.Leu760Val) c.2269C>G (p.Leu757Val) c.2188C>G (p.Leu730Val) c.2137C>G (p.Leu713Val) | |
14 | g.33800426C>T | CA7150950 | NPAS3 | c.2119C>T (p.Leu707=) c.2128C>T (p.Leu710=) c.2019C>T c.793+2845C>T c.2023C>T (p.Leu675=) c.2080C>T (p.Leu694=) c.2029C>T (p.Leu677=) c.2134C>T (p.Leu712=) c.2041C>T (p.Leu681=) c.2140C>T (p.Leu714=) c.2170C>T (p.Leu724=) c.2161C>T (p.Leu721=) c.2131C>T (p.Leu711=) c.2074C>T (p.Leu692=) c.2020C>T (p.Leu674=) c.1813C>T (p.Leu605=) c.2227C>T (p.Leu743=) c.2221C>T (p.Leu741=) c.2218C>T (p.Leu740=) c.2278C>T (p.Leu760=) c.2269C>T (p.Leu757=) c.2188C>T (p.Leu730=) c.2137C>T (p.Leu713=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800427T>A | CA389413989 | NPAS3 | c.2120T>A (p.Leu707Gln) c.2129T>A (p.Leu710Gln) c.2020T>A c.793+2846T>A c.2024T>A (p.Leu675Gln) c.2081T>A (p.Leu694Gln) c.2030T>A (p.Leu677Gln) c.2135T>A (p.Leu712Gln) c.2042T>A (p.Leu681Gln) c.2141T>A (p.Leu714Gln) c.2171T>A (p.Leu724Gln) c.2162T>A (p.Leu721Gln) c.2132T>A (p.Leu711Gln) c.2075T>A (p.Leu692Gln) c.2021T>A (p.Leu674Gln) c.1814T>A (p.Leu605Gln) c.2228T>A (p.Leu743Gln) c.2222T>A (p.Leu741Gln) c.2219T>A (p.Leu740Gln) c.2279T>A (p.Leu760Gln) c.2270T>A (p.Leu757Gln) c.2189T>A (p.Leu730Gln) c.2138T>A (p.Leu713Gln) | |
14 | g.33800427T>C | CA389413985 | NPAS3 | c.2120T>C (p.Leu707Pro) c.2129T>C (p.Leu710Pro) c.2020T>C c.793+2846T>C c.2024T>C (p.Leu675Pro) c.2081T>C (p.Leu694Pro) c.2030T>C (p.Leu677Pro) c.2135T>C (p.Leu712Pro) c.2042T>C (p.Leu681Pro) c.2141T>C (p.Leu714Pro) c.2171T>C (p.Leu724Pro) c.2162T>C (p.Leu721Pro) c.2132T>C (p.Leu711Pro) c.2075T>C (p.Leu692Pro) c.2021T>C (p.Leu674Pro) c.1814T>C (p.Leu605Pro) c.2228T>C (p.Leu743Pro) c.2222T>C (p.Leu741Pro) c.2219T>C (p.Leu740Pro) c.2279T>C (p.Leu760Pro) c.2270T>C (p.Leu757Pro) c.2189T>C (p.Leu730Pro) c.2138T>C (p.Leu713Pro) | |
14 | g.33800427T>G | CA389413987 | NPAS3 | c.2120T>G (p.Leu707Arg) c.2129T>G (p.Leu710Arg) c.2020T>G c.793+2846T>G c.2024T>G (p.Leu675Arg) c.2081T>G (p.Leu694Arg) c.2030T>G (p.Leu677Arg) c.2135T>G (p.Leu712Arg) c.2042T>G (p.Leu681Arg) c.2141T>G (p.Leu714Arg) c.2171T>G (p.Leu724Arg) c.2162T>G (p.Leu721Arg) c.2132T>G (p.Leu711Arg) c.2075T>G (p.Leu692Arg) c.2021T>G (p.Leu674Arg) c.1814T>G (p.Leu605Arg) c.2228T>G (p.Leu743Arg) c.2222T>G (p.Leu741Arg) c.2219T>G (p.Leu740Arg) c.2279T>G (p.Leu760Arg) c.2270T>G (p.Leu757Arg) c.2189T>G (p.Leu730Arg) c.2138T>G (p.Leu713Arg) | |
14 | g.33800428G>A | CA486093142 | NPAS3 | c.2121G>A (p.Leu707=) c.2130G>A (p.Leu710=) c.2021G>A c.793+2847G>A c.2025G>A (p.Leu675=) c.2082G>A (p.Leu694=) c.2031G>A (p.Leu677=) c.2136G>A (p.Leu712=) c.2043G>A (p.Leu681=) c.2142G>A (p.Leu714=) c.2172G>A (p.Leu724=) c.2163G>A (p.Leu721=) c.2133G>A (p.Leu711=) c.2076G>A (p.Leu692=) c.2022G>A (p.Leu674=) c.1815G>A (p.Leu605=) c.2229G>A (p.Leu743=) c.2223G>A (p.Leu741=) c.2220G>A (p.Leu740=) c.2280G>A (p.Leu760=) c.2271G>A (p.Leu757=) c.2190G>A (p.Leu730=) c.2139G>A (p.Leu713=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800428G>C | CA486093143 | NPAS3 | c.2121G>C (p.Leu707=) c.2130G>C (p.Leu710=) c.2021G>C c.793+2847G>C c.2025G>C (p.Leu675=) c.2082G>C (p.Leu694=) c.2031G>C (p.Leu677=) c.2136G>C (p.Leu712=) c.2043G>C (p.Leu681=) c.2142G>C (p.Leu714=) c.2172G>C (p.Leu724=) c.2163G>C (p.Leu721=) c.2133G>C (p.Leu711=) c.2076G>C (p.Leu692=) c.2022G>C (p.Leu674=) c.1815G>C (p.Leu605=) c.2229G>C (p.Leu743=) c.2223G>C (p.Leu741=) c.2220G>C (p.Leu740=) c.2280G>C (p.Leu760=) c.2271G>C (p.Leu757=) c.2190G>C (p.Leu730=) c.2139G>C (p.Leu713=) | gnomAD v4 |
14 | g.33800428G= | CA2128327471 | NPAS3 | c.2121G= (p.Leu707=) c.2130G= (p.Leu710=) c.2021G= c.793+2847G= c.2025G= (p.Leu675=) c.2082G= (p.Leu694=) c.2031G= (p.Leu677=) c.2136G= (p.Leu712=) c.2043G= (p.Leu681=) c.2142G= (p.Leu714=) c.2172G= (p.Leu724=) c.2163G= (p.Leu721=) c.2133G= (p.Leu711=) c.2076G= (p.Leu692=) c.2022G= (p.Leu674=) c.1815G= (p.Leu605=) c.2229G= (p.Leu743=) c.2223G= (p.Leu741=) c.2220G= (p.Leu740=) c.2280G= (p.Leu760=) c.2271G= (p.Leu757=) c.2190G= (p.Leu730=) c.2139G= (p.Leu713=) | |
14 | g.33800428G>T | CA486093144 | NPAS3 | c.2121G>T (p.Leu707=) c.2130G>T (p.Leu710=) c.2021G>T c.793+2847G>T c.2025G>T (p.Leu675=) c.2082G>T (p.Leu694=) c.2031G>T (p.Leu677=) c.2136G>T (p.Leu712=) c.2043G>T (p.Leu681=) c.2142G>T (p.Leu714=) c.2172G>T (p.Leu724=) c.2163G>T (p.Leu721=) c.2133G>T (p.Leu711=) c.2076G>T (p.Leu692=) c.2022G>T (p.Leu674=) c.1815G>T (p.Leu605=) c.2229G>T (p.Leu743=) c.2223G>T (p.Leu741=) c.2220G>T (p.Leu740=) c.2280G>T (p.Leu760=) c.2271G>T (p.Leu757=) c.2190G>T (p.Leu730=) c.2139G>T (p.Leu713=) | |
14 | g.33800429C>A | CA389413992 | NPAS3 | c.2122C>A (p.His708Asn) c.2131C>A (p.His711Asn) c.2022C>A c.793+2848C>A c.2026C>A (p.His676Asn) c.2083C>A (p.His695Asn) c.2032C>A (p.His678Asn) c.2137C>A (p.His713Asn) c.2044C>A (p.His682Asn) c.2143C>A (p.His715Asn) c.2173C>A (p.His725Asn) c.2164C>A (p.His722Asn) c.2134C>A (p.His712Asn) c.2077C>A (p.His693Asn) c.2023C>A (p.His675Asn) c.1816C>A (p.His606Asn) c.2230C>A (p.His744Asn) c.2224C>A (p.His742Asn) c.2221C>A (p.His741Asn) c.2281C>A (p.His761Asn) c.2272C>A (p.His758Asn) c.2191C>A (p.His731Asn) c.2140C>A (p.His714Asn) | gnomAD v4 |
14 | g.33800429C= | CA2128327474 | NPAS3 | c.2122C= (p.His708=) c.2131C= (p.His711=) c.2022C= c.793+2848C= c.2026C= (p.His676=) c.2083C= (p.His695=) c.2032C= (p.His678=) c.2137C= (p.His713=) c.2044C= (p.His682=) c.2143C= (p.His715=) c.2173C= (p.His725=) c.2164C= (p.His722=) c.2134C= (p.His712=) c.2077C= (p.His693=) c.2023C= (p.His675=) c.1816C= (p.His606=) c.2230C= (p.His744=) c.2224C= (p.His742=) c.2221C= (p.His741=) c.2281C= (p.His761=) c.2272C= (p.His758=) c.2191C= (p.His731=) c.2140C= (p.His714=) | |
14 | g.33800429C>G | CA389413993 | NPAS3 | c.2122C>G (p.His708Asp) c.2131C>G (p.His711Asp) c.2022C>G c.793+2848C>G c.2026C>G (p.His676Asp) c.2083C>G (p.His695Asp) c.2032C>G (p.His678Asp) c.2137C>G (p.His713Asp) c.2044C>G (p.His682Asp) c.2143C>G (p.His715Asp) c.2173C>G (p.His725Asp) c.2164C>G (p.His722Asp) c.2134C>G (p.His712Asp) c.2077C>G (p.His693Asp) c.2023C>G (p.His675Asp) c.1816C>G (p.His606Asp) c.2230C>G (p.His744Asp) c.2224C>G (p.His742Asp) c.2221C>G (p.His741Asp) c.2281C>G (p.His761Asp) c.2272C>G (p.His758Asp) c.2191C>G (p.His731Asp) c.2140C>G (p.His714Asp) | |
14 | g.33800429C>T | CA7150951 | NPAS3 | c.2122C>T (p.His708Tyr) c.2131C>T (p.His711Tyr) c.2022C>T c.793+2848C>T c.2026C>T (p.His676Tyr) c.2083C>T (p.His695Tyr) c.2032C>T (p.His678Tyr) c.2137C>T (p.His713Tyr) c.2044C>T (p.His682Tyr) c.2143C>T (p.His715Tyr) c.2173C>T (p.His725Tyr) c.2164C>T (p.His722Tyr) c.2134C>T (p.His712Tyr) c.2077C>T (p.His693Tyr) c.2023C>T (p.His675Tyr) c.1816C>T (p.His606Tyr) c.2230C>T (p.His744Tyr) c.2224C>T (p.His742Tyr) c.2221C>T (p.His741Tyr) c.2281C>T (p.His761Tyr) c.2272C>T (p.His758Tyr) c.2191C>T (p.His731Tyr) c.2140C>T (p.His714Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800430A= | CA2128327476 | NPAS3 | c.2123A= (p.His708=) c.2132A= (p.His711=) c.2023A= c.793+2849A= c.2027A= (p.His676=) c.2084A= (p.His695=) c.2033A= (p.His678=) c.2138A= (p.His713=) c.2045A= (p.His682=) c.2144A= (p.His715=) c.2174A= (p.His725=) c.2165A= (p.His722=) c.2135A= (p.His712=) c.2078A= (p.His693=) c.2024A= (p.His675=) c.1817A= (p.His606=) c.2231A= (p.His744=) c.2225A= (p.His742=) c.2222A= (p.His741=) c.2282A= (p.His761=) c.2273A= (p.His758=) c.2192A= (p.His731=) c.2141A= (p.His714=) | |
14 | g.33800430A>C | CA389413997 | NPAS3 | c.2123A>C (p.His708Pro) c.2132A>C (p.His711Pro) c.2023A>C c.793+2849A>C c.2027A>C (p.His676Pro) c.2084A>C (p.His695Pro) c.2033A>C (p.His678Pro) c.2138A>C (p.His713Pro) c.2045A>C (p.His682Pro) c.2144A>C (p.His715Pro) c.2174A>C (p.His725Pro) c.2165A>C (p.His722Pro) c.2135A>C (p.His712Pro) c.2078A>C (p.His693Pro) c.2024A>C (p.His675Pro) c.1817A>C (p.His606Pro) c.2231A>C (p.His744Pro) c.2225A>C (p.His742Pro) c.2222A>C (p.His741Pro) c.2282A>C (p.His761Pro) c.2273A>C (p.His758Pro) c.2192A>C (p.His731Pro) c.2141A>C (p.His714Pro) | dbSNP gnomAD v4 |
14 | g.33800430A>G | CA389413998 | NPAS3 | c.2123A>G (p.His708Arg) c.2132A>G (p.His711Arg) c.2023A>G c.793+2849A>G c.2027A>G (p.His676Arg) c.2084A>G (p.His695Arg) c.2033A>G (p.His678Arg) c.2138A>G (p.His713Arg) c.2045A>G (p.His682Arg) c.2144A>G (p.His715Arg) c.2174A>G (p.His725Arg) c.2165A>G (p.His722Arg) c.2135A>G (p.His712Arg) c.2078A>G (p.His693Arg) c.2024A>G (p.His675Arg) c.1817A>G (p.His606Arg) c.2231A>G (p.His744Arg) c.2225A>G (p.His742Arg) c.2222A>G (p.His741Arg) c.2282A>G (p.His761Arg) c.2273A>G (p.His758Arg) c.2192A>G (p.His731Arg) c.2141A>G (p.His714Arg) | |
14 | g.33800430A>T | CA389414000 | NPAS3 | c.2123A>T (p.His708Leu) c.2132A>T (p.His711Leu) c.2023A>T c.793+2849A>T c.2027A>T (p.His676Leu) c.2084A>T (p.His695Leu) c.2033A>T (p.His678Leu) c.2138A>T (p.His713Leu) c.2045A>T (p.His682Leu) c.2144A>T (p.His715Leu) c.2174A>T (p.His725Leu) c.2165A>T (p.His722Leu) c.2135A>T (p.His712Leu) c.2078A>T (p.His693Leu) c.2024A>T (p.His675Leu) c.1817A>T (p.His606Leu) c.2231A>T (p.His744Leu) c.2225A>T (p.His742Leu) c.2222A>T (p.His741Leu) c.2282A>T (p.His761Leu) c.2273A>T (p.His758Leu) c.2192A>T (p.His731Leu) c.2141A>T (p.His714Leu) | |
14 | g.33800431C>A | CA389414003 | NPAS3 | c.2124C>A (p.His708Gln) c.2133C>A (p.His711Gln) c.2024C>A c.793+2850C>A c.2028C>A (p.His676Gln) c.2085C>A (p.His695Gln) c.2034C>A (p.His678Gln) c.2139C>A (p.His713Gln) c.2046C>A (p.His682Gln) c.2145C>A (p.His715Gln) c.2175C>A (p.His725Gln) c.2166C>A (p.His722Gln) c.2136C>A (p.His712Gln) c.2079C>A (p.His693Gln) c.2025C>A (p.His675Gln) c.1818C>A (p.His606Gln) c.2232C>A (p.His744Gln) c.2226C>A (p.His742Gln) c.2223C>A (p.His741Gln) c.2283C>A (p.His761Gln) c.2274C>A (p.His758Gln) c.2193C>A (p.His731Gln) c.2142C>A (p.His714Gln) | |
14 | g.33800431C= | CA2128327478 | NPAS3 | c.2124C= (p.His708=) c.2133C= (p.His711=) c.2024C= c.793+2850C= c.2028C= (p.His676=) c.2085C= (p.His695=) c.2034C= (p.His678=) c.2139C= (p.His713=) c.2046C= (p.His682=) c.2145C= (p.His715=) c.2175C= (p.His725=) c.2166C= (p.His722=) c.2136C= (p.His712=) c.2079C= (p.His693=) c.2025C= (p.His675=) c.1818C= (p.His606=) c.2232C= (p.His744=) c.2226C= (p.His742=) c.2223C= (p.His741=) c.2283C= (p.His761=) c.2274C= (p.His758=) c.2193C= (p.His731=) c.2142C= (p.His714=) | |
14 | g.33800431C>G | CA389414004 | NPAS3 | c.2124C>G (p.His708Gln) c.2133C>G (p.His711Gln) c.2024C>G c.793+2850C>G c.2028C>G (p.His676Gln) c.2085C>G (p.His695Gln) c.2034C>G (p.His678Gln) c.2139C>G (p.His713Gln) c.2046C>G (p.His682Gln) c.2145C>G (p.His715Gln) c.2175C>G (p.His725Gln) c.2166C>G (p.His722Gln) c.2136C>G (p.His712Gln) c.2079C>G (p.His693Gln) c.2025C>G (p.His675Gln) c.1818C>G (p.His606Gln) c.2232C>G (p.His744Gln) c.2226C>G (p.His742Gln) c.2223C>G (p.His741Gln) c.2283C>G (p.His761Gln) c.2274C>G (p.His758Gln) c.2193C>G (p.His731Gln) c.2142C>G (p.His714Gln) | gnomAD v4 |
14 | g.33800431C>T | CA7150952 | NPAS3 | c.2124C>T (p.His708=) c.2133C>T (p.His711=) c.2024C>T c.793+2850C>T c.2028C>T (p.His676=) c.2085C>T (p.His695=) c.2034C>T (p.His678=) c.2139C>T (p.His713=) c.2046C>T (p.His682=) c.2145C>T (p.His715=) c.2175C>T (p.His725=) c.2166C>T (p.His722=) c.2136C>T (p.His712=) c.2079C>T (p.His693=) c.2025C>T (p.His675=) c.1818C>T (p.His606=) c.2232C>T (p.His744=) c.2226C>T (p.His742=) c.2223C>T (p.His741=) c.2283C>T (p.His761=) c.2274C>T (p.His758=) c.2193C>T (p.His731=) c.2142C>T (p.His714=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800432G>A | CA389414007 | NPAS3 | c.2125G>A (p.Val709Met) c.2134G>A (p.Val712Met) c.2025G>A c.793+2851G>A c.2029G>A (p.Val677Met) c.2086G>A (p.Val696Met) c.2035G>A (p.Val679Met) c.2140G>A (p.Val714Met) c.2047G>A (p.Val683Met) c.2146G>A (p.Val716Met) c.2176G>A (p.Val726Met) c.2167G>A (p.Val723Met) c.2137G>A (p.Val713Met) c.2080G>A (p.Val694Met) c.2026G>A (p.Val676Met) c.1819G>A (p.Val607Met) c.2233G>A (p.Val745Met) c.2227G>A (p.Val743Met) c.2224G>A (p.Val742Met) c.2284G>A (p.Val762Met) c.2275G>A (p.Val759Met) c.2194G>A (p.Val732Met) c.2143G>A (p.Val715Met) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800432G>C | CA389414009 | NPAS3 | c.2125G>C (p.Val709Leu) c.2134G>C (p.Val712Leu) c.2025G>C c.793+2851G>C c.2029G>C (p.Val677Leu) c.2086G>C (p.Val696Leu) c.2035G>C (p.Val679Leu) c.2140G>C (p.Val714Leu) c.2047G>C (p.Val683Leu) c.2146G>C (p.Val716Leu) c.2176G>C (p.Val726Leu) c.2167G>C (p.Val723Leu) c.2137G>C (p.Val713Leu) c.2080G>C (p.Val694Leu) c.2026G>C (p.Val676Leu) c.1819G>C (p.Val607Leu) c.2233G>C (p.Val745Leu) c.2227G>C (p.Val743Leu) c.2224G>C (p.Val742Leu) c.2284G>C (p.Val762Leu) c.2275G>C (p.Val759Leu) c.2194G>C (p.Val732Leu) c.2143G>C (p.Val715Leu) | |
14 | g.33800432G= | CA2128327483 | NPAS3 | c.2125G= (p.Val709=) c.2134G= (p.Val712=) c.2025G= c.793+2851G= c.2029G= (p.Val677=) c.2086G= (p.Val696=) c.2035G= (p.Val679=) c.2140G= (p.Val714=) c.2047G= (p.Val683=) c.2146G= (p.Val716=) c.2176G= (p.Val726=) c.2167G= (p.Val723=) c.2137G= (p.Val713=) c.2080G= (p.Val694=) c.2026G= (p.Val676=) c.1819G= (p.Val607=) c.2233G= (p.Val745=) c.2227G= (p.Val743=) c.2224G= (p.Val742=) c.2284G= (p.Val762=) c.2275G= (p.Val759=) c.2194G= (p.Val732=) c.2143G= (p.Val715=) | |
14 | g.33800432G>T | CA7150953 | NPAS3 | c.2125G>T (p.Val709Leu) c.2134G>T (p.Val712Leu) c.2025G>T c.793+2851G>T c.2029G>T (p.Val677Leu) c.2086G>T (p.Val696Leu) c.2035G>T (p.Val679Leu) c.2140G>T (p.Val714Leu) c.2047G>T (p.Val683Leu) c.2146G>T (p.Val716Leu) c.2176G>T (p.Val726Leu) c.2167G>T (p.Val723Leu) c.2137G>T (p.Val713Leu) c.2080G>T (p.Val694Leu) c.2026G>T (p.Val676Leu) c.1819G>T (p.Val607Leu) c.2233G>T (p.Val745Leu) c.2227G>T (p.Val743Leu) c.2224G>T (p.Val742Leu) c.2284G>T (p.Val762Leu) c.2275G>T (p.Val759Leu) c.2194G>T (p.Val732Leu) c.2143G>T (p.Val715Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800433T>A | CA389414014 | NPAS3 | c.2126T>A (p.Val709Glu) c.2135T>A (p.Val712Glu) c.2026T>A c.793+2852T>A c.2030T>A (p.Val677Glu) c.2087T>A (p.Val696Glu) c.2036T>A (p.Val679Glu) c.2141T>A (p.Val714Glu) c.2048T>A (p.Val683Glu) c.2147T>A (p.Val716Glu) c.2177T>A (p.Val726Glu) c.2168T>A (p.Val723Glu) c.2138T>A (p.Val713Glu) c.2081T>A (p.Val694Glu) c.2027T>A (p.Val676Glu) c.1820T>A (p.Val607Glu) c.2234T>A (p.Val745Glu) c.2228T>A (p.Val743Glu) c.2225T>A (p.Val742Glu) c.2285T>A (p.Val762Glu) c.2276T>A (p.Val759Glu) c.2195T>A (p.Val732Glu) c.2144T>A (p.Val715Glu) | |
14 | g.33800433T>C | CA389414016 | NPAS3 | c.2126T>C (p.Val709Ala) c.2135T>C (p.Val712Ala) c.2026T>C c.793+2852T>C c.2030T>C (p.Val677Ala) c.2087T>C (p.Val696Ala) c.2036T>C (p.Val679Ala) c.2141T>C (p.Val714Ala) c.2048T>C (p.Val683Ala) c.2147T>C (p.Val716Ala) c.2177T>C (p.Val726Ala) c.2168T>C (p.Val723Ala) c.2138T>C (p.Val713Ala) c.2081T>C (p.Val694Ala) c.2027T>C (p.Val676Ala) c.1820T>C (p.Val607Ala) c.2234T>C (p.Val745Ala) c.2228T>C (p.Val743Ala) c.2225T>C (p.Val742Ala) c.2285T>C (p.Val762Ala) c.2276T>C (p.Val759Ala) c.2195T>C (p.Val732Ala) c.2144T>C (p.Val715Ala) | |
14 | g.33800433T>G | CA389414012 | NPAS3 | c.2126T>G (p.Val709Gly) c.2135T>G (p.Val712Gly) c.2026T>G c.793+2852T>G c.2030T>G (p.Val677Gly) c.2087T>G (p.Val696Gly) c.2036T>G (p.Val679Gly) c.2141T>G (p.Val714Gly) c.2048T>G (p.Val683Gly) c.2147T>G (p.Val716Gly) c.2177T>G (p.Val726Gly) c.2168T>G (p.Val723Gly) c.2138T>G (p.Val713Gly) c.2081T>G (p.Val694Gly) c.2027T>G (p.Val676Gly) c.1820T>G (p.Val607Gly) c.2234T>G (p.Val745Gly) c.2228T>G (p.Val743Gly) c.2225T>G (p.Val742Gly) c.2285T>G (p.Val762Gly) c.2276T>G (p.Val759Gly) c.2195T>G (p.Val732Gly) c.2144T>G (p.Val715Gly) | |
14 | g.33800434G>A | CA486093153 | NPAS3 | c.2127G>A (p.Val709=) c.2136G>A (p.Val712=) c.2027G>A c.793+2853G>A c.2031G>A (p.Val677=) c.2088G>A (p.Val696=) c.2037G>A (p.Val679=) c.2142G>A (p.Val714=) c.2049G>A (p.Val683=) c.2148G>A (p.Val716=) c.2178G>A (p.Val726=) c.2169G>A (p.Val723=) c.2139G>A (p.Val713=) c.2082G>A (p.Val694=) c.2028G>A (p.Val676=) c.1821G>A (p.Val607=) c.2235G>A (p.Val745=) c.2229G>A (p.Val743=) c.2226G>A (p.Val742=) c.2286G>A (p.Val762=) c.2277G>A (p.Val759=) c.2196G>A (p.Val732=) c.2145G>A (p.Val715=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800434G>C | CA486093152 | NPAS3 | c.2127G>C (p.Val709=) c.2136G>C (p.Val712=) c.2027G>C c.793+2853G>C c.2031G>C (p.Val677=) c.2088G>C (p.Val696=) c.2037G>C (p.Val679=) c.2142G>C (p.Val714=) c.2049G>C (p.Val683=) c.2148G>C (p.Val716=) c.2178G>C (p.Val726=) c.2169G>C (p.Val723=) c.2139G>C (p.Val713=) c.2082G>C (p.Val694=) c.2028G>C (p.Val676=) c.1821G>C (p.Val607=) c.2235G>C (p.Val745=) c.2229G>C (p.Val743=) c.2226G>C (p.Val742=) c.2286G>C (p.Val762=) c.2277G>C (p.Val759=) c.2196G>C (p.Val732=) c.2145G>C (p.Val715=) | |
14 | g.33800434G= | CA2128327485 | NPAS3 | c.2127G= (p.Val709=) c.2136G= (p.Val712=) c.2027G= c.793+2853G= c.2031G= (p.Val677=) c.2088G= (p.Val696=) c.2037G= (p.Val679=) c.2142G= (p.Val714=) c.2049G= (p.Val683=) c.2148G= (p.Val716=) c.2178G= (p.Val726=) c.2169G= (p.Val723=) c.2139G= (p.Val713=) c.2082G= (p.Val694=) c.2028G= (p.Val676=) c.1821G= (p.Val607=) c.2235G= (p.Val745=) c.2229G= (p.Val743=) c.2226G= (p.Val742=) c.2286G= (p.Val762=) c.2277G= (p.Val759=) c.2196G= (p.Val732=) c.2145G= (p.Val715=) | |
14 | g.33800434G>T | CA486093151 | NPAS3 | c.2127G>T (p.Val709=) c.2136G>T (p.Val712=) c.2027G>T c.793+2853G>T c.2031G>T (p.Val677=) c.2088G>T (p.Val696=) c.2037G>T (p.Val679=) c.2142G>T (p.Val714=) c.2049G>T (p.Val683=) c.2148G>T (p.Val716=) c.2178G>T (p.Val726=) c.2169G>T (p.Val723=) c.2139G>T (p.Val713=) c.2082G>T (p.Val694=) c.2028G>T (p.Val676=) c.1821G>T (p.Val607=) c.2235G>T (p.Val745=) c.2229G>T (p.Val743=) c.2226G>T (p.Val742=) c.2286G>T (p.Val762=) c.2277G>T (p.Val759=) c.2196G>T (p.Val732=) c.2145G>T (p.Val715=) | |
14 | g.33800435G>A | CA389414018 | NPAS3 | c.2128G>A (p.Ala710Thr) c.2137G>A (p.Ala713Thr) c.2028G>A c.793+2854G>A c.2032G>A (p.Ala678Thr) c.2089G>A (p.Ala697Thr) c.2038G>A (p.Ala680Thr) c.2143G>A (p.Ala715Thr) c.2050G>A (p.Ala684Thr) c.2149G>A (p.Ala717Thr) c.2179G>A (p.Ala727Thr) c.2170G>A (p.Ala724Thr) c.2140G>A (p.Ala714Thr) c.2083G>A (p.Ala695Thr) c.2029G>A (p.Ala677Thr) c.1822G>A (p.Ala608Thr) c.2236G>A (p.Ala746Thr) c.2230G>A (p.Ala744Thr) c.2227G>A (p.Ala743Thr) c.2287G>A (p.Ala763Thr) c.2278G>A (p.Ala760Thr) c.2197G>A (p.Ala733Thr) c.2146G>A (p.Ala716Thr) | gnomAD v4 |
14 | g.33800435G>C | CA389414020 | NPAS3 | c.2128G>C (p.Ala710Pro) c.2137G>C (p.Ala713Pro) c.2028G>C c.793+2854G>C c.2032G>C (p.Ala678Pro) c.2089G>C (p.Ala697Pro) c.2038G>C (p.Ala680Pro) c.2143G>C (p.Ala715Pro) c.2050G>C (p.Ala684Pro) c.2149G>C (p.Ala717Pro) c.2179G>C (p.Ala727Pro) c.2170G>C (p.Ala724Pro) c.2140G>C (p.Ala714Pro) c.2083G>C (p.Ala695Pro) c.2029G>C (p.Ala677Pro) c.1822G>C (p.Ala608Pro) c.2236G>C (p.Ala746Pro) c.2230G>C (p.Ala744Pro) c.2227G>C (p.Ala743Pro) c.2287G>C (p.Ala763Pro) c.2278G>C (p.Ala760Pro) c.2197G>C (p.Ala733Pro) c.2146G>C (p.Ala716Pro) | |
14 | g.33800435G>T | CA389414022 | NPAS3 | c.2128G>T (p.Ala710Ser) c.2137G>T (p.Ala713Ser) c.2028G>T c.793+2854G>T c.2032G>T (p.Ala678Ser) c.2089G>T (p.Ala697Ser) c.2038G>T (p.Ala680Ser) c.2143G>T (p.Ala715Ser) c.2050G>T (p.Ala684Ser) c.2149G>T (p.Ala717Ser) c.2179G>T (p.Ala727Ser) c.2170G>T (p.Ala724Ser) c.2140G>T (p.Ala714Ser) c.2083G>T (p.Ala695Ser) c.2029G>T (p.Ala677Ser) c.1822G>T (p.Ala608Ser) c.2236G>T (p.Ala746Ser) c.2230G>T (p.Ala744Ser) c.2227G>T (p.Ala743Ser) c.2287G>T (p.Ala763Ser) c.2278G>T (p.Ala760Ser) c.2197G>T (p.Ala733Ser) c.2146G>T (p.Ala716Ser) | gnomAD v4 |
14 | g.33800436C>A | CA389414024 | NPAS3 | c.2129C>A (p.Ala710Asp) c.2138C>A (p.Ala713Asp) c.2029C>A c.793+2855C>A c.2033C>A (p.Ala678Asp) c.2090C>A (p.Ala697Asp) c.2039C>A (p.Ala680Asp) c.2144C>A (p.Ala715Asp) c.2051C>A (p.Ala684Asp) c.2150C>A (p.Ala717Asp) c.2180C>A (p.Ala727Asp) c.2171C>A (p.Ala724Asp) c.2141C>A (p.Ala714Asp) c.2084C>A (p.Ala695Asp) c.2030C>A (p.Ala677Asp) c.1823C>A (p.Ala608Asp) c.2237C>A (p.Ala746Asp) c.2231C>A (p.Ala744Asp) c.2228C>A (p.Ala743Asp) c.2288C>A (p.Ala763Asp) c.2279C>A (p.Ala760Asp) c.2198C>A (p.Ala733Asp) c.2147C>A (p.Ala716Asp) | gnomAD v4 |
14 | g.33800436C= | CA2128327489 | NPAS3 | c.2129C= (p.Ala710=) c.2138C= (p.Ala713=) c.2029C= c.793+2855C= c.2033C= (p.Ala678=) c.2090C= (p.Ala697=) c.2039C= (p.Ala680=) c.2144C= (p.Ala715=) c.2051C= (p.Ala684=) c.2150C= (p.Ala717=) c.2180C= (p.Ala727=) c.2171C= (p.Ala724=) c.2141C= (p.Ala714=) c.2084C= (p.Ala695=) c.2030C= (p.Ala677=) c.1823C= (p.Ala608=) c.2237C= (p.Ala746=) c.2231C= (p.Ala744=) c.2228C= (p.Ala743=) c.2288C= (p.Ala763=) c.2279C= (p.Ala760=) c.2198C= (p.Ala733=) c.2147C= (p.Ala716=) | |
14 | g.33800436C>G | CA389414026 | NPAS3 | c.2129C>G (p.Ala710Gly) c.2138C>G (p.Ala713Gly) c.2029C>G c.793+2855C>G c.2033C>G (p.Ala678Gly) c.2090C>G (p.Ala697Gly) c.2039C>G (p.Ala680Gly) c.2144C>G (p.Ala715Gly) c.2051C>G (p.Ala684Gly) c.2150C>G (p.Ala717Gly) c.2180C>G (p.Ala727Gly) c.2171C>G (p.Ala724Gly) c.2141C>G (p.Ala714Gly) c.2084C>G (p.Ala695Gly) c.2030C>G (p.Ala677Gly) c.1823C>G (p.Ala608Gly) c.2237C>G (p.Ala746Gly) c.2231C>G (p.Ala744Gly) c.2228C>G (p.Ala743Gly) c.2288C>G (p.Ala763Gly) c.2279C>G (p.Ala760Gly) c.2198C>G (p.Ala733Gly) c.2147C>G (p.Ala716Gly) | |
14 | g.33800436C>T | CA7150954 | NPAS3 | c.2129C>T (p.Ala710Val) c.2138C>T (p.Ala713Val) c.2029C>T c.793+2855C>T c.2033C>T (p.Ala678Val) c.2090C>T (p.Ala697Val) c.2039C>T (p.Ala680Val) c.2144C>T (p.Ala715Val) c.2051C>T (p.Ala684Val) c.2150C>T (p.Ala717Val) c.2180C>T (p.Ala727Val) c.2171C>T (p.Ala724Val) c.2141C>T (p.Ala714Val) c.2084C>T (p.Ala695Val) c.2030C>T (p.Ala677Val) c.1823C>T (p.Ala608Val) c.2237C>T (p.Ala746Val) c.2231C>T (p.Ala744Val) c.2228C>T (p.Ala743Val) c.2288C>T (p.Ala763Val) c.2279C>T (p.Ala760Val) c.2198C>T (p.Ala733Val) c.2147C>T (p.Ala716Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800437C>A | CA486093158 | NPAS3 | c.2130C>A (p.Ala710=) c.2139C>A (p.Ala713=) c.2030C>A c.793+2856C>A c.2034C>A (p.Ala678=) c.2091C>A (p.Ala697=) c.2040C>A (p.Ala680=) c.2145C>A (p.Ala715=) c.2052C>A (p.Ala684=) c.2151C>A (p.Ala717=) c.2181C>A (p.Ala727=) c.2172C>A (p.Ala724=) c.2142C>A (p.Ala714=) c.2085C>A (p.Ala695=) c.2031C>A (p.Ala677=) c.1824C>A (p.Ala608=) c.2238C>A (p.Ala746=) c.2232C>A (p.Ala744=) c.2229C>A (p.Ala743=) c.2289C>A (p.Ala763=) c.2280C>A (p.Ala760=) c.2199C>A (p.Ala733=) c.2148C>A (p.Ala716=) | |
14 | g.33800437C= | CA2128327493 | NPAS3 | c.2130C= (p.Ala710=) c.2139C= (p.Ala713=) c.2030C= c.793+2856C= c.2034C= (p.Ala678=) c.2091C= (p.Ala697=) c.2040C= (p.Ala680=) c.2145C= (p.Ala715=) c.2052C= (p.Ala684=) c.2151C= (p.Ala717=) c.2181C= (p.Ala727=) c.2172C= (p.Ala724=) c.2142C= (p.Ala714=) c.2085C= (p.Ala695=) c.2031C= (p.Ala677=) c.1824C= (p.Ala608=) c.2238C= (p.Ala746=) c.2232C= (p.Ala744=) c.2229C= (p.Ala743=) c.2289C= (p.Ala763=) c.2280C= (p.Ala760=) c.2199C= (p.Ala733=) c.2148C= (p.Ala716=) | |
14 | g.33800437C>G | CA486093160 | NPAS3 | c.2130C>G (p.Ala710=) c.2139C>G (p.Ala713=) c.2030C>G c.793+2856C>G c.2034C>G (p.Ala678=) c.2091C>G (p.Ala697=) c.2040C>G (p.Ala680=) c.2145C>G (p.Ala715=) c.2052C>G (p.Ala684=) c.2151C>G (p.Ala717=) c.2181C>G (p.Ala727=) c.2172C>G (p.Ala724=) c.2142C>G (p.Ala714=) c.2085C>G (p.Ala695=) c.2031C>G (p.Ala677=) c.1824C>G (p.Ala608=) c.2238C>G (p.Ala746=) c.2232C>G (p.Ala744=) c.2229C>G (p.Ala743=) c.2289C>G (p.Ala763=) c.2280C>G (p.Ala760=) c.2199C>G (p.Ala733=) c.2148C>G (p.Ala716=) | |
14 | g.33800437C>T | CA486093159 | NPAS3 | c.2130C>T (p.Ala710=) c.2139C>T (p.Ala713=) c.2030C>T c.793+2856C>T c.2034C>T (p.Ala678=) c.2091C>T (p.Ala697=) c.2040C>T (p.Ala680=) c.2145C>T (p.Ala715=) c.2052C>T (p.Ala684=) c.2151C>T (p.Ala717=) c.2181C>T (p.Ala727=) c.2172C>T (p.Ala724=) c.2142C>T (p.Ala714=) c.2085C>T (p.Ala695=) c.2031C>T (p.Ala677=) c.1824C>T (p.Ala608=) c.2238C>T (p.Ala746=) c.2232C>T (p.Ala744=) c.2229C>T (p.Ala743=) c.2289C>T (p.Ala763=) c.2280C>T (p.Ala760=) c.2199C>T (p.Ala733=) c.2148C>T (p.Ala716=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800438A= | CA2128327496 | NPAS3 | c.2131A= (p.Ile711=) c.2140A= (p.Ile714=) c.2031A= c.793+2857A= c.2035A= (p.Ile679=) c.2092A= (p.Ile698=) c.2041A= (p.Ile681=) c.2146A= (p.Ile716=) c.2053A= (p.Ile685=) c.2152A= (p.Ile718=) c.2182A= (p.Ile728=) c.2173A= (p.Ile725=) c.2143A= (p.Ile715=) c.2086A= (p.Ile696=) c.2032A= (p.Ile678=) c.1825A= (p.Ile609=) c.2239A= (p.Ile747=) c.2233A= (p.Ile745=) c.2230A= (p.Ile744=) c.2290A= (p.Ile764=) c.2281A= (p.Ile761=) c.2200A= (p.Ile734=) c.2149A= (p.Ile717=) | |
14 | g.33800438A>C | CA389414029 | NPAS3 | c.2131A>C (p.Ile711Leu) c.2140A>C (p.Ile714Leu) c.2031A>C c.793+2857A>C c.2035A>C (p.Ile679Leu) c.2092A>C (p.Ile698Leu) c.2041A>C (p.Ile681Leu) c.2146A>C (p.Ile716Leu) c.2053A>C (p.Ile685Leu) c.2152A>C (p.Ile718Leu) c.2182A>C (p.Ile728Leu) c.2173A>C (p.Ile725Leu) c.2143A>C (p.Ile715Leu) c.2086A>C (p.Ile696Leu) c.2032A>C (p.Ile678Leu) c.1825A>C (p.Ile609Leu) c.2239A>C (p.Ile747Leu) c.2233A>C (p.Ile745Leu) c.2230A>C (p.Ile744Leu) c.2290A>C (p.Ile764Leu) c.2281A>C (p.Ile761Leu) c.2200A>C (p.Ile734Leu) c.2149A>C (p.Ile717Leu) | |
14 | g.33800438A>G | CA389414031 | NPAS3 | c.2131A>G (p.Ile711Val) c.2140A>G (p.Ile714Val) c.2031A>G c.793+2857A>G c.2035A>G (p.Ile679Val) c.2092A>G (p.Ile698Val) c.2041A>G (p.Ile681Val) c.2146A>G (p.Ile716Val) c.2053A>G (p.Ile685Val) c.2152A>G (p.Ile718Val) c.2182A>G (p.Ile728Val) c.2173A>G (p.Ile725Val) c.2143A>G (p.Ile715Val) c.2086A>G (p.Ile696Val) c.2032A>G (p.Ile678Val) c.1825A>G (p.Ile609Val) c.2239A>G (p.Ile747Val) c.2233A>G (p.Ile745Val) c.2230A>G (p.Ile744Val) c.2290A>G (p.Ile764Val) c.2281A>G (p.Ile761Val) c.2200A>G (p.Ile734Val) c.2149A>G (p.Ile717Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800438A>T | CA389414033 | NPAS3 | c.2131A>T (p.Ile711Phe) c.2140A>T (p.Ile714Phe) c.2031A>T c.793+2857A>T c.2035A>T (p.Ile679Phe) c.2092A>T (p.Ile698Phe) c.2041A>T (p.Ile681Phe) c.2146A>T (p.Ile716Phe) c.2053A>T (p.Ile685Phe) c.2152A>T (p.Ile718Phe) c.2182A>T (p.Ile728Phe) c.2173A>T (p.Ile725Phe) c.2143A>T (p.Ile715Phe) c.2086A>T (p.Ile696Phe) c.2032A>T (p.Ile678Phe) c.1825A>T (p.Ile609Phe) c.2239A>T (p.Ile747Phe) c.2233A>T (p.Ile745Phe) c.2230A>T (p.Ile744Phe) c.2290A>T (p.Ile764Phe) c.2281A>T (p.Ile761Phe) c.2200A>T (p.Ile734Phe) c.2149A>T (p.Ile717Phe) | gnomAD v4 |
14 | g.33800439T>A | CA389414036 | NPAS3 | c.2132T>A (p.Ile711Asn) c.2141T>A (p.Ile714Asn) c.2032T>A c.793+2858T>A c.2036T>A (p.Ile679Asn) c.2093T>A (p.Ile698Asn) c.2042T>A (p.Ile681Asn) c.2147T>A (p.Ile716Asn) c.2054T>A (p.Ile685Asn) c.2153T>A (p.Ile718Asn) c.2183T>A (p.Ile728Asn) c.2174T>A (p.Ile725Asn) c.2144T>A (p.Ile715Asn) c.2087T>A (p.Ile696Asn) c.2033T>A (p.Ile678Asn) c.1826T>A (p.Ile609Asn) c.2240T>A (p.Ile747Asn) c.2234T>A (p.Ile745Asn) c.2231T>A (p.Ile744Asn) c.2291T>A (p.Ile764Asn) c.2282T>A (p.Ile761Asn) c.2201T>A (p.Ile734Asn) c.2150T>A (p.Ile717Asn) | |
14 | g.33800439T>C | CA389414037 | NPAS3 | c.2132T>C (p.Ile711Thr) c.2141T>C (p.Ile714Thr) c.2032T>C c.793+2858T>C c.2036T>C (p.Ile679Thr) c.2093T>C (p.Ile698Thr) c.2042T>C (p.Ile681Thr) c.2147T>C (p.Ile716Thr) c.2054T>C (p.Ile685Thr) c.2153T>C (p.Ile718Thr) c.2183T>C (p.Ile728Thr) c.2174T>C (p.Ile725Thr) c.2144T>C (p.Ile715Thr) c.2087T>C (p.Ile696Thr) c.2033T>C (p.Ile678Thr) c.1826T>C (p.Ile609Thr) c.2240T>C (p.Ile747Thr) c.2234T>C (p.Ile745Thr) c.2231T>C (p.Ile744Thr) c.2291T>C (p.Ile764Thr) c.2282T>C (p.Ile761Thr) c.2201T>C (p.Ile734Thr) c.2150T>C (p.Ile717Thr) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800439T>G | CA389414039 | NPAS3 | c.2132T>G (p.Ile711Ser) c.2141T>G (p.Ile714Ser) c.2032T>G c.793+2858T>G c.2036T>G (p.Ile679Ser) c.2093T>G (p.Ile698Ser) c.2042T>G (p.Ile681Ser) c.2147T>G (p.Ile716Ser) c.2054T>G (p.Ile685Ser) c.2153T>G (p.Ile718Ser) c.2183T>G (p.Ile728Ser) c.2174T>G (p.Ile725Ser) c.2144T>G (p.Ile715Ser) c.2087T>G (p.Ile696Ser) c.2033T>G (p.Ile678Ser) c.1826T>G (p.Ile609Ser) c.2240T>G (p.Ile747Ser) c.2234T>G (p.Ile745Ser) c.2231T>G (p.Ile744Ser) c.2291T>G (p.Ile764Ser) c.2282T>G (p.Ile761Ser) c.2201T>G (p.Ile734Ser) c.2150T>G (p.Ile717Ser) | gnomAD v4 |
14 | g.33800439T= | CA2128327499 | NPAS3 | c.2132T= (p.Ile711=) c.2141T= (p.Ile714=) c.2032T= c.793+2858T= c.2036T= (p.Ile679=) c.2093T= (p.Ile698=) c.2042T= (p.Ile681=) c.2147T= (p.Ile716=) c.2054T= (p.Ile685=) c.2153T= (p.Ile718=) c.2183T= (p.Ile728=) c.2174T= (p.Ile725=) c.2144T= (p.Ile715=) c.2087T= (p.Ile696=) c.2033T= (p.Ile678=) c.1826T= (p.Ile609=) c.2240T= (p.Ile747=) c.2234T= (p.Ile745=) c.2231T= (p.Ile744=) c.2291T= (p.Ile764=) c.2282T= (p.Ile761=) c.2201T= (p.Ile734=) c.2150T= (p.Ile717=) | |
14 | g.33800440T>A | CA486093162 | NPAS3 | c.2133T>A (p.Ile711=) c.2142T>A (p.Ile714=) c.2033T>A c.793+2859T>A c.2037T>A (p.Ile679=) c.2094T>A (p.Ile698=) c.2043T>A (p.Ile681=) c.2148T>A (p.Ile716=) c.2055T>A (p.Ile685=) c.2154T>A (p.Ile718=) c.2184T>A (p.Ile728=) c.2175T>A (p.Ile725=) c.2145T>A (p.Ile715=) c.2088T>A (p.Ile696=) c.2034T>A (p.Ile678=) c.1827T>A (p.Ile609=) c.2241T>A (p.Ile747=) c.2235T>A (p.Ile745=) c.2232T>A (p.Ile744=) c.2292T>A (p.Ile764=) c.2283T>A (p.Ile761=) c.2202T>A (p.Ile734=) c.2151T>A (p.Ile717=) | |
14 | g.33800440T>C | CA486093164 | NPAS3 | c.2133T>C (p.Ile711=) c.2142T>C (p.Ile714=) c.2033T>C c.793+2859T>C c.2037T>C (p.Ile679=) c.2094T>C (p.Ile698=) c.2043T>C (p.Ile681=) c.2148T>C (p.Ile716=) c.2055T>C (p.Ile685=) c.2154T>C (p.Ile718=) c.2184T>C (p.Ile728=) c.2175T>C (p.Ile725=) c.2145T>C (p.Ile715=) c.2088T>C (p.Ile696=) c.2034T>C (p.Ile678=) c.1827T>C (p.Ile609=) c.2241T>C (p.Ile747=) c.2235T>C (p.Ile745=) c.2232T>C (p.Ile744=) c.2292T>C (p.Ile764=) c.2283T>C (p.Ile761=) c.2202T>C (p.Ile734=) c.2151T>C (p.Ile717=) | |
14 | g.33800440T>G | CA389414042 | NPAS3 | c.2133T>G (p.Ile711Met) c.2142T>G (p.Ile714Met) c.2033T>G c.793+2859T>G c.2037T>G (p.Ile679Met) c.2094T>G (p.Ile698Met) c.2043T>G (p.Ile681Met) c.2148T>G (p.Ile716Met) c.2055T>G (p.Ile685Met) c.2154T>G (p.Ile718Met) c.2184T>G (p.Ile728Met) c.2175T>G (p.Ile725Met) c.2145T>G (p.Ile715Met) c.2088T>G (p.Ile696Met) c.2034T>G (p.Ile678Met) c.1827T>G (p.Ile609Met) c.2241T>G (p.Ile747Met) c.2235T>G (p.Ile745Met) c.2232T>G (p.Ile744Met) c.2292T>G (p.Ile764Met) c.2283T>G (p.Ile761Met) c.2202T>G (p.Ile734Met) c.2151T>G (p.Ile717Met) | |
14 | g.33800441C>A | CA389414048 | NPAS3 | c.2134C>A (p.Pro712Thr) c.2143C>A (p.Pro715Thr) c.2034C>A c.793+2860C>A c.2038C>A (p.Pro680Thr) c.2095C>A (p.Pro699Thr) c.2044C>A (p.Pro682Thr) c.2149C>A (p.Pro717Thr) c.2056C>A (p.Pro686Thr) c.2155C>A (p.Pro719Thr) c.2185C>A (p.Pro729Thr) c.2176C>A (p.Pro726Thr) c.2146C>A (p.Pro716Thr) c.2089C>A (p.Pro697Thr) c.2035C>A (p.Pro679Thr) c.1828C>A (p.Pro610Thr) c.2242C>A (p.Pro748Thr) c.2236C>A (p.Pro746Thr) c.2233C>A (p.Pro745Thr) c.2293C>A (p.Pro765Thr) c.2284C>A (p.Pro762Thr) c.2203C>A (p.Pro735Thr) c.2152C>A (p.Pro718Thr) | gnomAD v4 |
14 | g.33800441C>G | CA389414046 | NPAS3 | c.2134C>G (p.Pro712Ala) c.2143C>G (p.Pro715Ala) c.2034C>G c.793+2860C>G c.2038C>G (p.Pro680Ala) c.2095C>G (p.Pro699Ala) c.2044C>G (p.Pro682Ala) c.2149C>G (p.Pro717Ala) c.2056C>G (p.Pro686Ala) c.2155C>G (p.Pro719Ala) c.2185C>G (p.Pro729Ala) c.2176C>G (p.Pro726Ala) c.2146C>G (p.Pro716Ala) c.2089C>G (p.Pro697Ala) c.2035C>G (p.Pro679Ala) c.1828C>G (p.Pro610Ala) c.2242C>G (p.Pro748Ala) c.2236C>G (p.Pro746Ala) c.2233C>G (p.Pro745Ala) c.2293C>G (p.Pro765Ala) c.2284C>G (p.Pro762Ala) c.2203C>G (p.Pro735Ala) c.2152C>G (p.Pro718Ala) | |
14 | g.33800441C>T | CA389414044 | NPAS3 | c.2134C>T (p.Pro712Ser) c.2143C>T (p.Pro715Ser) c.2034C>T c.793+2860C>T c.2038C>T (p.Pro680Ser) c.2095C>T (p.Pro699Ser) c.2044C>T (p.Pro682Ser) c.2149C>T (p.Pro717Ser) c.2056C>T (p.Pro686Ser) c.2155C>T (p.Pro719Ser) c.2185C>T (p.Pro729Ser) c.2176C>T (p.Pro726Ser) c.2146C>T (p.Pro716Ser) c.2089C>T (p.Pro697Ser) c.2035C>T (p.Pro679Ser) c.1828C>T (p.Pro610Ser) c.2242C>T (p.Pro748Ser) c.2236C>T (p.Pro746Ser) c.2233C>T (p.Pro745Ser) c.2293C>T (p.Pro765Ser) c.2284C>T (p.Pro762Ser) c.2203C>T (p.Pro735Ser) c.2152C>T (p.Pro718Ser) | gnomAD v4 |
14 | g.33800442C>A | CA389414049 | NPAS3 | c.2135C>A (p.Pro712His) c.2144C>A (p.Pro715His) c.2035C>A c.793+2861C>A c.2039C>A (p.Pro680His) c.2096C>A (p.Pro699His) c.2045C>A (p.Pro682His) c.2150C>A (p.Pro717His) c.2057C>A (p.Pro686His) c.2156C>A (p.Pro719His) c.2186C>A (p.Pro729His) c.2177C>A (p.Pro726His) c.2147C>A (p.Pro716His) c.2090C>A (p.Pro697His) c.2036C>A (p.Pro679His) c.1829C>A (p.Pro610His) c.2243C>A (p.Pro748His) c.2237C>A (p.Pro746His) c.2234C>A (p.Pro745His) c.2294C>A (p.Pro765His) c.2285C>A (p.Pro762His) c.2204C>A (p.Pro735His) c.2153C>A (p.Pro718His) | gnomAD v4 |
14 | g.33800442C>G | CA389414051 | NPAS3 | c.2135C>G (p.Pro712Arg) c.2144C>G (p.Pro715Arg) c.2035C>G c.793+2861C>G c.2039C>G (p.Pro680Arg) c.2096C>G (p.Pro699Arg) c.2045C>G (p.Pro682Arg) c.2150C>G (p.Pro717Arg) c.2057C>G (p.Pro686Arg) c.2156C>G (p.Pro719Arg) c.2186C>G (p.Pro729Arg) c.2177C>G (p.Pro726Arg) c.2147C>G (p.Pro716Arg) c.2090C>G (p.Pro697Arg) c.2036C>G (p.Pro679Arg) c.1829C>G (p.Pro610Arg) c.2243C>G (p.Pro748Arg) c.2237C>G (p.Pro746Arg) c.2234C>G (p.Pro745Arg) c.2294C>G (p.Pro765Arg) c.2285C>G (p.Pro762Arg) c.2204C>G (p.Pro735Arg) c.2153C>G (p.Pro718Arg) | |
14 | g.33800442C>T | CA389414053 | NPAS3 | c.2135C>T (p.Pro712Leu) c.2144C>T (p.Pro715Leu) c.2035C>T c.793+2861C>T c.2039C>T (p.Pro680Leu) c.2096C>T (p.Pro699Leu) c.2045C>T (p.Pro682Leu) c.2150C>T (p.Pro717Leu) c.2057C>T (p.Pro686Leu) c.2156C>T (p.Pro719Leu) c.2186C>T (p.Pro729Leu) c.2177C>T (p.Pro726Leu) c.2147C>T (p.Pro716Leu) c.2090C>T (p.Pro697Leu) c.2036C>T (p.Pro679Leu) c.1829C>T (p.Pro610Leu) c.2243C>T (p.Pro748Leu) c.2237C>T (p.Pro746Leu) c.2234C>T (p.Pro745Leu) c.2294C>T (p.Pro765Leu) c.2285C>T (p.Pro762Leu) c.2204C>T (p.Pro735Leu) c.2153C>T (p.Pro718Leu) | |
14 | g.33800443C>A | CA486093169 | NPAS3 | c.2136C>A (p.Pro712=) c.2145C>A (p.Pro715=) c.2036C>A c.793+2862C>A c.2040C>A (p.Pro680=) c.2097C>A (p.Pro699=) c.2046C>A (p.Pro682=) c.2151C>A (p.Pro717=) c.2058C>A (p.Pro686=) c.2157C>A (p.Pro719=) c.2187C>A (p.Pro729=) c.2178C>A (p.Pro726=) c.2148C>A (p.Pro716=) c.2091C>A (p.Pro697=) c.2037C>A (p.Pro679=) c.1830C>A (p.Pro610=) c.2244C>A (p.Pro748=) c.2238C>A (p.Pro746=) c.2235C>A (p.Pro745=) c.2295C>A (p.Pro765=) c.2286C>A (p.Pro762=) c.2205C>A (p.Pro735=) c.2154C>A (p.Pro718=) | gnomAD v4 |
14 | g.33800443C= | CA2128327504 | NPAS3 | c.2136C= (p.Pro712=) c.2145C= (p.Pro715=) c.2036C= c.793+2862C= c.2040C= (p.Pro680=) c.2097C= (p.Pro699=) c.2046C= (p.Pro682=) c.2151C= (p.Pro717=) c.2058C= (p.Pro686=) c.2157C= (p.Pro719=) c.2187C= (p.Pro729=) c.2178C= (p.Pro726=) c.2148C= (p.Pro716=) c.2091C= (p.Pro697=) c.2037C= (p.Pro679=) c.1830C= (p.Pro610=) c.2244C= (p.Pro748=) c.2238C= (p.Pro746=) c.2235C= (p.Pro745=) c.2295C= (p.Pro765=) c.2286C= (p.Pro762=) c.2205C= (p.Pro735=) c.2154C= (p.Pro718=) | |
14 | g.33800443C>G | CA7150955 | NPAS3 | c.2136C>G (p.Pro712=) c.2145C>G (p.Pro715=) c.2036C>G c.793+2862C>G c.2040C>G (p.Pro680=) c.2097C>G (p.Pro699=) c.2046C>G (p.Pro682=) c.2151C>G (p.Pro717=) c.2058C>G (p.Pro686=) c.2157C>G (p.Pro719=) c.2187C>G (p.Pro729=) c.2178C>G (p.Pro726=) c.2148C>G (p.Pro716=) c.2091C>G (p.Pro697=) c.2037C>G (p.Pro679=) c.1830C>G (p.Pro610=) c.2244C>G (p.Pro748=) c.2238C>G (p.Pro746=) c.2235C>G (p.Pro745=) c.2295C>G (p.Pro765=) c.2286C>G (p.Pro762=) c.2205C>G (p.Pro735=) c.2154C>G (p.Pro718=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800443C>T | CA7150956 | NPAS3 | c.2136C>T (p.Pro712=) c.2145C>T (p.Pro715=) c.2036C>T c.793+2862C>T c.2040C>T (p.Pro680=) c.2097C>T (p.Pro699=) c.2046C>T (p.Pro682=) c.2151C>T (p.Pro717=) c.2058C>T (p.Pro686=) c.2157C>T (p.Pro719=) c.2187C>T (p.Pro729=) c.2178C>T (p.Pro726=) c.2148C>T (p.Pro716=) c.2091C>T (p.Pro697=) c.2037C>T (p.Pro679=) c.1830C>T (p.Pro610=) c.2244C>T (p.Pro748=) c.2238C>T (p.Pro746=) c.2235C>T (p.Pro745=) c.2295C>T (p.Pro765=) c.2286C>T (p.Pro762=) c.2205C>T (p.Pro735=) c.2154C>T (p.Pro718=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800444G>A | CA389414058 | NPAS3 | c.2137G>A (p.Asp713Asn) c.2146G>A (p.Asp716Asn) c.2037G>A c.793+2863G>A c.2041G>A (p.Asp681Asn) c.2098G>A (p.Asp700Asn) c.2047G>A (p.Asp683Asn) c.2152G>A (p.Asp718Asn) c.2059G>A (p.Asp687Asn) c.2158G>A (p.Asp720Asn) c.2188G>A (p.Asp730Asn) c.2179G>A (p.Asp727Asn) c.2149G>A (p.Asp717Asn) c.2092G>A (p.Asp698Asn) c.2038G>A (p.Asp680Asn) c.1831G>A (p.Asp611Asn) c.2245G>A (p.Asp749Asn) c.2239G>A (p.Asp747Asn) c.2236G>A (p.Asp746Asn) c.2296G>A (p.Asp766Asn) c.2287G>A (p.Asp763Asn) c.2206G>A (p.Asp736Asn) c.2155G>A (p.Asp719Asn) | dbSNP gnomAD v4 |
14 | g.33800444G>C | CA389414060 | NPAS3 | c.2137G>C (p.Asp713His) c.2146G>C (p.Asp716His) c.2037G>C c.793+2863G>C c.2041G>C (p.Asp681His) c.2098G>C (p.Asp700His) c.2047G>C (p.Asp683His) c.2152G>C (p.Asp718His) c.2059G>C (p.Asp687His) c.2158G>C (p.Asp720His) c.2188G>C (p.Asp730His) c.2179G>C (p.Asp727His) c.2149G>C (p.Asp717His) c.2092G>C (p.Asp698His) c.2038G>C (p.Asp680His) c.1831G>C (p.Asp611His) c.2245G>C (p.Asp749His) c.2239G>C (p.Asp747His) c.2236G>C (p.Asp746His) c.2296G>C (p.Asp766His) c.2287G>C (p.Asp763His) c.2206G>C (p.Asp736His) c.2155G>C (p.Asp719His) | |
14 | g.33800444G= | CA2128327507 | NPAS3 | c.2137G= (p.Asp713=) c.2146G= (p.Asp716=) c.2037G= c.793+2863G= c.2041G= (p.Asp681=) c.2098G= (p.Asp700=) c.2047G= (p.Asp683=) c.2152G= (p.Asp718=) c.2059G= (p.Asp687=) c.2158G= (p.Asp720=) c.2188G= (p.Asp730=) c.2179G= (p.Asp727=) c.2149G= (p.Asp717=) c.2092G= (p.Asp698=) c.2038G= (p.Asp680=) c.1831G= (p.Asp611=) c.2245G= (p.Asp749=) c.2239G= (p.Asp747=) c.2236G= (p.Asp746=) c.2296G= (p.Asp766=) c.2287G= (p.Asp763=) c.2206G= (p.Asp736=) c.2155G= (p.Asp719=) | |
14 | g.33800444G>T | CA389414061 | NPAS3 | c.2137G>T (p.Asp713Tyr) c.2146G>T (p.Asp716Tyr) c.2037G>T c.793+2863G>T c.2041G>T (p.Asp681Tyr) c.2098G>T (p.Asp700Tyr) c.2047G>T (p.Asp683Tyr) c.2152G>T (p.Asp718Tyr) c.2059G>T (p.Asp687Tyr) c.2158G>T (p.Asp720Tyr) c.2188G>T (p.Asp730Tyr) c.2179G>T (p.Asp727Tyr) c.2149G>T (p.Asp717Tyr) c.2092G>T (p.Asp698Tyr) c.2038G>T (p.Asp680Tyr) c.1831G>T (p.Asp611Tyr) c.2245G>T (p.Asp749Tyr) c.2239G>T (p.Asp747Tyr) c.2236G>T (p.Asp746Tyr) c.2296G>T (p.Asp766Tyr) c.2287G>T (p.Asp763Tyr) c.2206G>T (p.Asp736Tyr) c.2155G>T (p.Asp719Tyr) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800445A= | CA2128327510 | NPAS3 | c.2138A= (p.Asp713=) c.2147A= (p.Asp716=) c.2038A= c.793+2864A= c.2042A= (p.Asp681=) c.2099A= (p.Asp700=) c.2048A= (p.Asp683=) c.2153A= (p.Asp718=) c.2060A= (p.Asp687=) c.2159A= (p.Asp720=) c.2189A= (p.Asp730=) c.2180A= (p.Asp727=) c.2150A= (p.Asp717=) c.2093A= (p.Asp698=) c.2039A= (p.Asp680=) c.1832A= (p.Asp611=) c.2246A= (p.Asp749=) c.2240A= (p.Asp747=) c.2237A= (p.Asp746=) c.2297A= (p.Asp766=) c.2288A= (p.Asp763=) c.2207A= (p.Asp736=) c.2156A= (p.Asp719=) | |
14 | g.33800445A>C | CA389414062 | NPAS3 | c.2138A>C (p.Asp713Ala) c.2147A>C (p.Asp716Ala) c.2038A>C c.793+2864A>C c.2042A>C (p.Asp681Ala) c.2099A>C (p.Asp700Ala) c.2048A>C (p.Asp683Ala) c.2153A>C (p.Asp718Ala) c.2060A>C (p.Asp687Ala) c.2159A>C (p.Asp720Ala) c.2189A>C (p.Asp730Ala) c.2180A>C (p.Asp727Ala) c.2150A>C (p.Asp717Ala) c.2093A>C (p.Asp698Ala) c.2039A>C (p.Asp680Ala) c.1832A>C (p.Asp611Ala) c.2246A>C (p.Asp749Ala) c.2240A>C (p.Asp747Ala) c.2237A>C (p.Asp746Ala) c.2297A>C (p.Asp766Ala) c.2288A>C (p.Asp763Ala) c.2207A>C (p.Asp736Ala) c.2156A>C (p.Asp719Ala) | |
14 | g.33800445A>G | CA389414063 | NPAS3 | c.2138A>G (p.Asp713Gly) c.2147A>G (p.Asp716Gly) c.2038A>G c.793+2864A>G c.2042A>G (p.Asp681Gly) c.2099A>G (p.Asp700Gly) c.2048A>G (p.Asp683Gly) c.2153A>G (p.Asp718Gly) c.2060A>G (p.Asp687Gly) c.2159A>G (p.Asp720Gly) c.2189A>G (p.Asp730Gly) c.2180A>G (p.Asp727Gly) c.2150A>G (p.Asp717Gly) c.2093A>G (p.Asp698Gly) c.2039A>G (p.Asp680Gly) c.1832A>G (p.Asp611Gly) c.2246A>G (p.Asp749Gly) c.2240A>G (p.Asp747Gly) c.2237A>G (p.Asp746Gly) c.2297A>G (p.Asp766Gly) c.2288A>G (p.Asp763Gly) c.2207A>G (p.Asp736Gly) c.2156A>G (p.Asp719Gly) | |
14 | g.33800445A>T | CA389414064 | NPAS3 | c.2138A>T (p.Asp713Val) c.2147A>T (p.Asp716Val) c.2038A>T c.793+2864A>T c.2042A>T (p.Asp681Val) c.2099A>T (p.Asp700Val) c.2048A>T (p.Asp683Val) c.2153A>T (p.Asp718Val) c.2060A>T (p.Asp687Val) c.2159A>T (p.Asp720Val) c.2189A>T (p.Asp730Val) c.2180A>T (p.Asp727Val) c.2150A>T (p.Asp717Val) c.2093A>T (p.Asp698Val) c.2039A>T (p.Asp680Val) c.1832A>T (p.Asp611Val) c.2246A>T (p.Asp749Val) c.2240A>T (p.Asp747Val) c.2237A>T (p.Asp746Val) c.2297A>T (p.Asp766Val) c.2288A>T (p.Asp763Val) c.2207A>T (p.Asp736Val) c.2156A>T (p.Asp719Val) | dbSNP gnomAD v2 |
14 | g.33800446C>A | CA389414065 | NPAS3 | c.2139C>A (p.Asp713Glu) c.2148C>A (p.Asp716Glu) c.2039C>A c.793+2865C>A c.2043C>A (p.Asp681Glu) c.2100C>A (p.Asp700Glu) c.2049C>A (p.Asp683Glu) c.2154C>A (p.Asp718Glu) c.2061C>A (p.Asp687Glu) c.2160C>A (p.Asp720Glu) c.2190C>A (p.Asp730Glu) c.2181C>A (p.Asp727Glu) c.2151C>A (p.Asp717Glu) c.2094C>A (p.Asp698Glu) c.2040C>A (p.Asp680Glu) c.1833C>A (p.Asp611Glu) c.2247C>A (p.Asp749Glu) c.2241C>A (p.Asp747Glu) c.2238C>A (p.Asp746Glu) c.2298C>A (p.Asp766Glu) c.2289C>A (p.Asp763Glu) c.2208C>A (p.Asp736Glu) c.2157C>A (p.Asp719Glu) | |
14 | g.33800446C>G | CA389414066 | NPAS3 | c.2139C>G (p.Asp713Glu) c.2148C>G (p.Asp716Glu) c.2039C>G c.793+2865C>G c.2043C>G (p.Asp681Glu) c.2100C>G (p.Asp700Glu) c.2049C>G (p.Asp683Glu) c.2154C>G (p.Asp718Glu) c.2061C>G (p.Asp687Glu) c.2160C>G (p.Asp720Glu) c.2190C>G (p.Asp730Glu) c.2181C>G (p.Asp727Glu) c.2151C>G (p.Asp717Glu) c.2094C>G (p.Asp698Glu) c.2040C>G (p.Asp680Glu) c.1833C>G (p.Asp611Glu) c.2247C>G (p.Asp749Glu) c.2241C>G (p.Asp747Glu) c.2238C>G (p.Asp746Glu) c.2298C>G (p.Asp766Glu) c.2289C>G (p.Asp763Glu) c.2208C>G (p.Asp736Glu) c.2157C>G (p.Asp719Glu) | |
14 | g.33800446C>T | CA486093170 | NPAS3 | c.2139C>T (p.Asp713=) c.2148C>T (p.Asp716=) c.2039C>T c.793+2865C>T c.2043C>T (p.Asp681=) c.2100C>T (p.Asp700=) c.2049C>T (p.Asp683=) c.2154C>T (p.Asp718=) c.2061C>T (p.Asp687=) c.2160C>T (p.Asp720=) c.2190C>T (p.Asp730=) c.2181C>T (p.Asp727=) c.2151C>T (p.Asp717=) c.2094C>T (p.Asp698=) c.2040C>T (p.Asp680=) c.1833C>T (p.Asp611=) c.2247C>T (p.Asp749=) c.2241C>T (p.Asp747=) c.2238C>T (p.Asp746=) c.2298C>T (p.Asp766=) c.2289C>T (p.Asp763=) c.2208C>T (p.Asp736=) c.2157C>T (p.Asp719=) | |
14 | g.33800447T>A | CA389414069 | NPAS3 | c.2140T>A (p.Ser714Thr) c.2149T>A (p.Ser717Thr) c.2040T>A c.793+2866T>A c.2044T>A (p.Ser682Thr) c.2101T>A (p.Ser701Thr) c.2050T>A (p.Ser684Thr) c.2155T>A (p.Ser719Thr) c.2062T>A (p.Ser688Thr) c.2161T>A (p.Ser721Thr) c.2191T>A (p.Ser731Thr) c.2182T>A (p.Ser728Thr) c.2152T>A (p.Ser718Thr) c.2095T>A (p.Ser699Thr) c.2041T>A (p.Ser681Thr) c.1834T>A (p.Ser612Thr) c.2248T>A (p.Ser750Thr) c.2242T>A (p.Ser748Thr) c.2239T>A (p.Ser747Thr) c.2299T>A (p.Ser767Thr) c.2290T>A (p.Ser764Thr) c.2209T>A (p.Ser737Thr) c.2158T>A (p.Ser720Thr) | |
14 | g.33800447T>C | CA389414068 | NPAS3 | c.2140T>C (p.Ser714Pro) c.2149T>C (p.Ser717Pro) c.2040T>C c.793+2866T>C c.2044T>C (p.Ser682Pro) c.2101T>C (p.Ser701Pro) c.2050T>C (p.Ser684Pro) c.2155T>C (p.Ser719Pro) c.2062T>C (p.Ser688Pro) c.2161T>C (p.Ser721Pro) c.2191T>C (p.Ser731Pro) c.2182T>C (p.Ser728Pro) c.2152T>C (p.Ser718Pro) c.2095T>C (p.Ser699Pro) c.2041T>C (p.Ser681Pro) c.1834T>C (p.Ser612Pro) c.2248T>C (p.Ser750Pro) c.2242T>C (p.Ser748Pro) c.2239T>C (p.Ser747Pro) c.2299T>C (p.Ser767Pro) c.2290T>C (p.Ser764Pro) c.2209T>C (p.Ser737Pro) c.2158T>C (p.Ser720Pro) | |
14 | g.33800447T>G | CA389414067 | NPAS3 | c.2140T>G (p.Ser714Ala) c.2149T>G (p.Ser717Ala) c.2040T>G c.793+2866T>G c.2044T>G (p.Ser682Ala) c.2101T>G (p.Ser701Ala) c.2050T>G (p.Ser684Ala) c.2155T>G (p.Ser719Ala) c.2062T>G (p.Ser688Ala) c.2161T>G (p.Ser721Ala) c.2191T>G (p.Ser731Ala) c.2182T>G (p.Ser728Ala) c.2152T>G (p.Ser718Ala) c.2095T>G (p.Ser699Ala) c.2041T>G (p.Ser681Ala) c.1834T>G (p.Ser612Ala) c.2248T>G (p.Ser750Ala) c.2242T>G (p.Ser748Ala) c.2239T>G (p.Ser747Ala) c.2299T>G (p.Ser767Ala) c.2290T>G (p.Ser764Ala) c.2209T>G (p.Ser737Ala) c.2158T>G (p.Ser720Ala) | |
14 | g.33800448C>A | CA389414070 | NPAS3 | c.2141C>A (p.Ser714Ter) c.2150C>A (p.Ser717Ter) c.2041C>A c.793+2867C>A c.2045C>A (p.Ser682Ter) c.2102C>A (p.Ser701Ter) c.2051C>A (p.Ser684Ter) c.2156C>A (p.Ser719Ter) c.2063C>A (p.Ser688Ter) c.2162C>A (p.Ser721Ter) c.2192C>A (p.Ser731Ter) c.2183C>A (p.Ser728Ter) c.2153C>A (p.Ser718Ter) c.2096C>A (p.Ser699Ter) c.2042C>A (p.Ser681Ter) c.1835C>A (p.Ser612Ter) c.2249C>A (p.Ser750Ter) c.2243C>A (p.Ser748Ter) c.2240C>A (p.Ser747Ter) c.2300C>A (p.Ser767Ter) c.2291C>A (p.Ser764Ter) c.2210C>A (p.Ser737Ter) c.2159C>A (p.Ser720Ter) | gnomAD v4 |
14 | g.33800448C= | CA2128327515 | NPAS3 | c.2141C= (p.Ser714=) c.2150C= (p.Ser717=) c.2041C= c.793+2867C= c.2045C= (p.Ser682=) c.2102C= (p.Ser701=) c.2051C= (p.Ser684=) c.2156C= (p.Ser719=) c.2063C= (p.Ser688=) c.2162C= (p.Ser721=) c.2192C= (p.Ser731=) c.2183C= (p.Ser728=) c.2153C= (p.Ser718=) c.2096C= (p.Ser699=) c.2042C= (p.Ser681=) c.1835C= (p.Ser612=) c.2249C= (p.Ser750=) c.2243C= (p.Ser748=) c.2240C= (p.Ser747=) c.2300C= (p.Ser767=) c.2291C= (p.Ser764=) c.2210C= (p.Ser737=) c.2159C= (p.Ser720=) | |
14 | g.33800448C>G | CA389414071 | NPAS3 | c.2141C>G (p.Ser714Trp) c.2150C>G (p.Ser717Trp) c.2041C>G c.793+2867C>G c.2045C>G (p.Ser682Trp) c.2102C>G (p.Ser701Trp) c.2051C>G (p.Ser684Trp) c.2156C>G (p.Ser719Trp) c.2063C>G (p.Ser688Trp) c.2162C>G (p.Ser721Trp) c.2192C>G (p.Ser731Trp) c.2183C>G (p.Ser728Trp) c.2153C>G (p.Ser718Trp) c.2096C>G (p.Ser699Trp) c.2042C>G (p.Ser681Trp) c.1835C>G (p.Ser612Trp) c.2249C>G (p.Ser750Trp) c.2243C>G (p.Ser748Trp) c.2240C>G (p.Ser747Trp) c.2300C>G (p.Ser767Trp) c.2291C>G (p.Ser764Trp) c.2210C>G (p.Ser737Trp) c.2159C>G (p.Ser720Trp) | |
14 | g.33800448C>T | CA7150957 | NPAS3 | c.2141C>T (p.Ser714Leu) c.2150C>T (p.Ser717Leu) c.2041C>T c.793+2867C>T c.2045C>T (p.Ser682Leu) c.2102C>T (p.Ser701Leu) c.2051C>T (p.Ser684Leu) c.2156C>T (p.Ser719Leu) c.2063C>T (p.Ser688Leu) c.2162C>T (p.Ser721Leu) c.2192C>T (p.Ser731Leu) c.2183C>T (p.Ser728Leu) c.2153C>T (p.Ser718Leu) c.2096C>T (p.Ser699Leu) c.2042C>T (p.Ser681Leu) c.1835C>T (p.Ser612Leu) c.2249C>T (p.Ser750Leu) c.2243C>T (p.Ser748Leu) c.2240C>T (p.Ser747Leu) c.2300C>T (p.Ser767Leu) c.2291C>T (p.Ser764Leu) c.2210C>T (p.Ser737Leu) c.2159C>T (p.Ser720Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800449G>A | CA486093171 | NPAS3 | c.2142G>A (p.Ser714=) c.2151G>A (p.Ser717=) c.2042G>A c.793+2868G>A c.2046G>A (p.Ser682=) c.2103G>A (p.Ser701=) c.2052G>A (p.Ser684=) c.2157G>A (p.Ser719=) c.2064G>A (p.Ser688=) c.2163G>A (p.Ser721=) c.2193G>A (p.Ser731=) c.2184G>A (p.Ser728=) c.2154G>A (p.Ser718=) c.2097G>A (p.Ser699=) c.2043G>A (p.Ser681=) c.1836G>A (p.Ser612=) c.2250G>A (p.Ser750=) c.2244G>A (p.Ser748=) c.2241G>A (p.Ser747=) c.2301G>A (p.Ser767=) c.2292G>A (p.Ser764=) c.2211G>A (p.Ser737=) c.2160G>A (p.Ser720=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800449G>C | CA486093172 | NPAS3 | c.2142G>C (p.Ser714=) c.2151G>C (p.Ser717=) c.2042G>C c.793+2868G>C c.2046G>C (p.Ser682=) c.2103G>C (p.Ser701=) c.2052G>C (p.Ser684=) c.2157G>C (p.Ser719=) c.2064G>C (p.Ser688=) c.2163G>C (p.Ser721=) c.2193G>C (p.Ser731=) c.2184G>C (p.Ser728=) c.2154G>C (p.Ser718=) c.2097G>C (p.Ser699=) c.2043G>C (p.Ser681=) c.1836G>C (p.Ser612=) c.2250G>C (p.Ser750=) c.2244G>C (p.Ser748=) c.2241G>C (p.Ser747=) c.2301G>C (p.Ser767=) c.2292G>C (p.Ser764=) c.2211G>C (p.Ser737=) c.2160G>C (p.Ser720=) | |
14 | g.33800449G= | CA2128327519 | NPAS3 | c.2142G= (p.Ser714=) c.2151G= (p.Ser717=) c.2042G= c.793+2868G= c.2046G= (p.Ser682=) c.2103G= (p.Ser701=) c.2052G= (p.Ser684=) c.2157G= (p.Ser719=) c.2064G= (p.Ser688=) c.2163G= (p.Ser721=) c.2193G= (p.Ser731=) c.2184G= (p.Ser728=) c.2154G= (p.Ser718=) c.2097G= (p.Ser699=) c.2043G= (p.Ser681=) c.1836G= (p.Ser612=) c.2250G= (p.Ser750=) c.2244G= (p.Ser748=) c.2241G= (p.Ser747=) c.2301G= (p.Ser767=) c.2292G= (p.Ser764=) c.2211G= (p.Ser737=) c.2160G= (p.Ser720=) | |
14 | g.33800449G>T | CA486093173 | NPAS3 | c.2142G>T (p.Ser714=) c.2151G>T (p.Ser717=) c.2042G>T c.793+2868G>T c.2046G>T (p.Ser682=) c.2103G>T (p.Ser701=) c.2052G>T (p.Ser684=) c.2157G>T (p.Ser719=) c.2064G>T (p.Ser688=) c.2163G>T (p.Ser721=) c.2193G>T (p.Ser731=) c.2184G>T (p.Ser728=) c.2154G>T (p.Ser718=) c.2097G>T (p.Ser699=) c.2043G>T (p.Ser681=) c.1836G>T (p.Ser612=) c.2250G>T (p.Ser750=) c.2244G>T (p.Ser748=) c.2241G>T (p.Ser747=) c.2301G>T (p.Ser767=) c.2292G>T (p.Ser764=) c.2211G>T (p.Ser737=) c.2160G>T (p.Ser720=) | gnomAD v4 |
14 | g.33800450G>A | CA7150958 | NPAS3 | c.2143G>A (p.Val715Ile) c.2152G>A (p.Val718Ile) c.2043G>A c.793+2869G>A c.2047G>A (p.Val683Ile) c.2104G>A (p.Val702Ile) c.2053G>A (p.Val685Ile) c.2158G>A (p.Val720Ile) c.2065G>A (p.Val689Ile) c.2164G>A (p.Val722Ile) c.2194G>A (p.Val732Ile) c.2185G>A (p.Val729Ile) c.2155G>A (p.Val719Ile) c.2098G>A (p.Val700Ile) c.2044G>A (p.Val682Ile) c.1837G>A (p.Val613Ile) c.2251G>A (p.Val751Ile) c.2245G>A (p.Val749Ile) c.2242G>A (p.Val748Ile) c.2302G>A (p.Val768Ile) c.2293G>A (p.Val765Ile) c.2212G>A (p.Val738Ile) c.2161G>A (p.Val721Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800450G>C | CA389414073 | NPAS3 | c.2143G>C (p.Val715Leu) c.2152G>C (p.Val718Leu) c.2043G>C c.793+2869G>C c.2047G>C (p.Val683Leu) c.2104G>C (p.Val702Leu) c.2053G>C (p.Val685Leu) c.2158G>C (p.Val720Leu) c.2065G>C (p.Val689Leu) c.2164G>C (p.Val722Leu) c.2194G>C (p.Val732Leu) c.2185G>C (p.Val729Leu) c.2155G>C (p.Val719Leu) c.2098G>C (p.Val700Leu) c.2044G>C (p.Val682Leu) c.1837G>C (p.Val613Leu) c.2251G>C (p.Val751Leu) c.2245G>C (p.Val749Leu) c.2242G>C (p.Val748Leu) c.2302G>C (p.Val768Leu) c.2293G>C (p.Val765Leu) c.2212G>C (p.Val738Leu) c.2161G>C (p.Val721Leu) | |
14 | g.33800450G= | CA2128327523 | NPAS3 | c.2143G= (p.Val715=) c.2152G= (p.Val718=) c.2043G= c.793+2869G= c.2047G= (p.Val683=) c.2104G= (p.Val702=) c.2053G= (p.Val685=) c.2158G= (p.Val720=) c.2065G= (p.Val689=) c.2164G= (p.Val722=) c.2194G= (p.Val732=) c.2185G= (p.Val729=) c.2155G= (p.Val719=) c.2098G= (p.Val700=) c.2044G= (p.Val682=) c.1837G= (p.Val613=) c.2251G= (p.Val751=) c.2245G= (p.Val749=) c.2242G= (p.Val748=) c.2302G= (p.Val768=) c.2293G= (p.Val765=) c.2212G= (p.Val738=) c.2161G= (p.Val721=) | |
14 | g.33800450G>T | CA389414072 | NPAS3 | c.2143G>T (p.Val715Phe) c.2152G>T (p.Val718Phe) c.2043G>T c.793+2869G>T c.2047G>T (p.Val683Phe) c.2104G>T (p.Val702Phe) c.2053G>T (p.Val685Phe) c.2158G>T (p.Val720Phe) c.2065G>T (p.Val689Phe) c.2164G>T (p.Val722Phe) c.2194G>T (p.Val732Phe) c.2185G>T (p.Val729Phe) c.2155G>T (p.Val719Phe) c.2098G>T (p.Val700Phe) c.2044G>T (p.Val682Phe) c.1837G>T (p.Val613Phe) c.2251G>T (p.Val751Phe) c.2245G>T (p.Val749Phe) c.2242G>T (p.Val748Phe) c.2302G>T (p.Val768Phe) c.2293G>T (p.Val765Phe) c.2212G>T (p.Val738Phe) c.2161G>T (p.Val721Phe) | |
14 | g.33800451T>A | CA389414074 | NPAS3 | c.2144T>A (p.Val715Asp) c.2153T>A (p.Val718Asp) c.2044T>A c.793+2870T>A c.2048T>A (p.Val683Asp) c.2105T>A (p.Val702Asp) c.2054T>A (p.Val685Asp) c.2159T>A (p.Val720Asp) c.2066T>A (p.Val689Asp) c.2165T>A (p.Val722Asp) c.2195T>A (p.Val732Asp) c.2186T>A (p.Val729Asp) c.2156T>A (p.Val719Asp) c.2099T>A (p.Val700Asp) c.2045T>A (p.Val682Asp) c.1838T>A (p.Val613Asp) c.2252T>A (p.Val751Asp) c.2246T>A (p.Val749Asp) c.2243T>A (p.Val748Asp) c.2303T>A (p.Val768Asp) c.2294T>A (p.Val765Asp) c.2213T>A (p.Val738Asp) c.2162T>A (p.Val721Asp) | |
14 | g.33800451T>C | CA389414075 | NPAS3 | c.2144T>C (p.Val715Ala) c.2153T>C (p.Val718Ala) c.2044T>C c.793+2870T>C c.2048T>C (p.Val683Ala) c.2105T>C (p.Val702Ala) c.2054T>C (p.Val685Ala) c.2159T>C (p.Val720Ala) c.2066T>C (p.Val689Ala) c.2165T>C (p.Val722Ala) c.2195T>C (p.Val732Ala) c.2186T>C (p.Val729Ala) c.2156T>C (p.Val719Ala) c.2099T>C (p.Val700Ala) c.2045T>C (p.Val682Ala) c.1838T>C (p.Val613Ala) c.2252T>C (p.Val751Ala) c.2246T>C (p.Val749Ala) c.2243T>C (p.Val748Ala) c.2303T>C (p.Val768Ala) c.2294T>C (p.Val765Ala) c.2213T>C (p.Val738Ala) c.2162T>C (p.Val721Ala) | |
14 | g.33800451T>G | CA389414076 | NPAS3 | c.2144T>G (p.Val715Gly) c.2153T>G (p.Val718Gly) c.2044T>G c.793+2870T>G c.2048T>G (p.Val683Gly) c.2105T>G (p.Val702Gly) c.2054T>G (p.Val685Gly) c.2159T>G (p.Val720Gly) c.2066T>G (p.Val689Gly) c.2165T>G (p.Val722Gly) c.2195T>G (p.Val732Gly) c.2186T>G (p.Val729Gly) c.2156T>G (p.Val719Gly) c.2099T>G (p.Val700Gly) c.2045T>G (p.Val682Gly) c.1838T>G (p.Val613Gly) c.2252T>G (p.Val751Gly) c.2246T>G (p.Val749Gly) c.2243T>G (p.Val748Gly) c.2303T>G (p.Val768Gly) c.2294T>G (p.Val765Gly) c.2213T>G (p.Val738Gly) c.2162T>G (p.Val721Gly) | |
14 | g.33800452C>A | CA486093174 | NPAS3 | c.2145C>A (p.Val715=) c.2154C>A (p.Val718=) c.2045C>A c.793+2871C>A c.2049C>A (p.Val683=) c.2106C>A (p.Val702=) c.2055C>A (p.Val685=) c.2160C>A (p.Val720=) c.2067C>A (p.Val689=) c.2166C>A (p.Val722=) c.2196C>A (p.Val732=) c.2187C>A (p.Val729=) c.2157C>A (p.Val719=) c.2100C>A (p.Val700=) c.2046C>A (p.Val682=) c.1839C>A (p.Val613=) c.2253C>A (p.Val751=) c.2247C>A (p.Val749=) c.2244C>A (p.Val748=) c.2304C>A (p.Val768=) c.2295C>A (p.Val765=) c.2214C>A (p.Val738=) c.2163C>A (p.Val721=) | |
14 | g.33800452C>G | CA486093176 | NPAS3 | c.2145C>G (p.Val715=) c.2154C>G (p.Val718=) c.2045C>G c.793+2871C>G c.2049C>G (p.Val683=) c.2106C>G (p.Val702=) c.2055C>G (p.Val685=) c.2160C>G (p.Val720=) c.2067C>G (p.Val689=) c.2166C>G (p.Val722=) c.2196C>G (p.Val732=) c.2187C>G (p.Val729=) c.2157C>G (p.Val719=) c.2100C>G (p.Val700=) c.2046C>G (p.Val682=) c.1839C>G (p.Val613=) c.2253C>G (p.Val751=) c.2247C>G (p.Val749=) c.2244C>G (p.Val748=) c.2304C>G (p.Val768=) c.2295C>G (p.Val765=) c.2214C>G (p.Val738=) c.2163C>G (p.Val721=) | |
14 | g.33800452C>T | CA486093175 | NPAS3 | c.2145C>T (p.Val715=) c.2154C>T (p.Val718=) c.2045C>T c.793+2871C>T c.2049C>T (p.Val683=) c.2106C>T (p.Val702=) c.2055C>T (p.Val685=) c.2160C>T (p.Val720=) c.2067C>T (p.Val689=) c.2166C>T (p.Val722=) c.2196C>T (p.Val732=) c.2187C>T (p.Val729=) c.2157C>T (p.Val719=) c.2100C>T (p.Val700=) c.2046C>T (p.Val682=) c.1839C>T (p.Val613=) c.2253C>T (p.Val751=) c.2247C>T (p.Val749=) c.2244C>T (p.Val748=) c.2304C>T (p.Val768=) c.2295C>T (p.Val765=) c.2214C>T (p.Val738=) c.2163C>T (p.Val721=) | gnomAD v4 |
14 | g.33800453C>A | CA389414077 | NPAS3 | c.2146C>A (p.Leu716Ile) c.2155C>A (p.Leu719Ile) c.2046C>A c.793+2872C>A c.2050C>A (p.Leu684Ile) c.2107C>A (p.Leu703Ile) c.2056C>A (p.Leu686Ile) c.2161C>A (p.Leu721Ile) c.2068C>A (p.Leu690Ile) c.2167C>A (p.Leu723Ile) c.2197C>A (p.Leu733Ile) c.2188C>A (p.Leu730Ile) c.2158C>A (p.Leu720Ile) c.2101C>A (p.Leu701Ile) c.2047C>A (p.Leu683Ile) c.1840C>A (p.Leu614Ile) c.2254C>A (p.Leu752Ile) c.2248C>A (p.Leu750Ile) c.2245C>A (p.Leu749Ile) c.2305C>A (p.Leu769Ile) c.2296C>A (p.Leu766Ile) c.2215C>A (p.Leu739Ile) c.2164C>A (p.Leu722Ile) | gnomAD v4 |
14 | g.33800453C>G | CA389414078 | NPAS3 | c.2146C>G (p.Leu716Val) c.2155C>G (p.Leu719Val) c.2046C>G c.793+2872C>G c.2050C>G (p.Leu684Val) c.2107C>G (p.Leu703Val) c.2056C>G (p.Leu686Val) c.2161C>G (p.Leu721Val) c.2068C>G (p.Leu690Val) c.2167C>G (p.Leu723Val) c.2197C>G (p.Leu733Val) c.2188C>G (p.Leu730Val) c.2158C>G (p.Leu720Val) c.2101C>G (p.Leu701Val) c.2047C>G (p.Leu683Val) c.1840C>G (p.Leu614Val) c.2254C>G (p.Leu752Val) c.2248C>G (p.Leu750Val) c.2245C>G (p.Leu749Val) c.2305C>G (p.Leu769Val) c.2296C>G (p.Leu766Val) c.2215C>G (p.Leu739Val) c.2164C>G (p.Leu722Val) | |
14 | g.33800453C>T | CA389414079 | NPAS3 | c.2146C>T (p.Leu716Phe) c.2155C>T (p.Leu719Phe) c.2046C>T c.793+2872C>T c.2050C>T (p.Leu684Phe) c.2107C>T (p.Leu703Phe) c.2056C>T (p.Leu686Phe) c.2161C>T (p.Leu721Phe) c.2068C>T (p.Leu690Phe) c.2167C>T (p.Leu723Phe) c.2197C>T (p.Leu733Phe) c.2188C>T (p.Leu730Phe) c.2158C>T (p.Leu720Phe) c.2101C>T (p.Leu701Phe) c.2047C>T (p.Leu683Phe) c.1840C>T (p.Leu614Phe) c.2254C>T (p.Leu752Phe) c.2248C>T (p.Leu750Phe) c.2245C>T (p.Leu749Phe) c.2305C>T (p.Leu769Phe) c.2296C>T (p.Leu766Phe) c.2215C>T (p.Leu739Phe) c.2164C>T (p.Leu722Phe) | ClinVar |
14 | g.33800454T>A | CA389414080 | NPAS3 | c.2147T>A (p.Leu716His) c.2156T>A (p.Leu719His) c.2047T>A c.793+2873T>A c.2051T>A (p.Leu684His) c.2108T>A (p.Leu703His) c.2057T>A (p.Leu686His) c.2162T>A (p.Leu721His) c.2069T>A (p.Leu690His) c.2168T>A (p.Leu723His) c.2198T>A (p.Leu733His) c.2189T>A (p.Leu730His) c.2159T>A (p.Leu720His) c.2102T>A (p.Leu701His) c.2048T>A (p.Leu683His) c.1841T>A (p.Leu614His) c.2255T>A (p.Leu752His) c.2249T>A (p.Leu750His) c.2246T>A (p.Leu749His) c.2306T>A (p.Leu769His) c.2297T>A (p.Leu766His) c.2216T>A (p.Leu739His) c.2165T>A (p.Leu722His) | |
14 | g.33800454T>C | CA389414081 | NPAS3 | c.2147T>C (p.Leu716Pro) c.2156T>C (p.Leu719Pro) c.2047T>C c.793+2873T>C c.2051T>C (p.Leu684Pro) c.2108T>C (p.Leu703Pro) c.2057T>C (p.Leu686Pro) c.2162T>C (p.Leu721Pro) c.2069T>C (p.Leu690Pro) c.2168T>C (p.Leu723Pro) c.2198T>C (p.Leu733Pro) c.2189T>C (p.Leu730Pro) c.2159T>C (p.Leu720Pro) c.2102T>C (p.Leu701Pro) c.2048T>C (p.Leu683Pro) c.1841T>C (p.Leu614Pro) c.2255T>C (p.Leu752Pro) c.2249T>C (p.Leu750Pro) c.2246T>C (p.Leu749Pro) c.2306T>C (p.Leu769Pro) c.2297T>C (p.Leu766Pro) c.2216T>C (p.Leu739Pro) c.2165T>C (p.Leu722Pro) | dbSNP gnomAD v4 |
14 | g.33800454T>G | CA389414082 | NPAS3 | c.2147T>G (p.Leu716Arg) c.2156T>G (p.Leu719Arg) c.2047T>G c.793+2873T>G c.2051T>G (p.Leu684Arg) c.2108T>G (p.Leu703Arg) c.2057T>G (p.Leu686Arg) c.2162T>G (p.Leu721Arg) c.2069T>G (p.Leu690Arg) c.2168T>G (p.Leu723Arg) c.2198T>G (p.Leu733Arg) c.2189T>G (p.Leu730Arg) c.2159T>G (p.Leu720Arg) c.2102T>G (p.Leu701Arg) c.2048T>G (p.Leu683Arg) c.1841T>G (p.Leu614Arg) c.2255T>G (p.Leu752Arg) c.2249T>G (p.Leu750Arg) c.2246T>G (p.Leu749Arg) c.2306T>G (p.Leu769Arg) c.2297T>G (p.Leu766Arg) c.2216T>G (p.Leu739Arg) c.2165T>G (p.Leu722Arg) | |
14 | g.33800455C>A | CA486093179 | NPAS3 | c.2148C>A (p.Leu716=) c.2157C>A (p.Leu719=) c.2048C>A c.793+2874C>A c.2052C>A (p.Leu684=) c.2109C>A (p.Leu703=) c.2058C>A (p.Leu686=) c.2163C>A (p.Leu721=) c.2070C>A (p.Leu690=) c.2169C>A (p.Leu723=) c.2199C>A (p.Leu733=) c.2190C>A (p.Leu730=) c.2160C>A (p.Leu720=) c.2103C>A (p.Leu701=) c.2049C>A (p.Leu683=) c.1842C>A (p.Leu614=) c.2256C>A (p.Leu752=) c.2250C>A (p.Leu750=) c.2247C>A (p.Leu749=) c.2307C>A (p.Leu769=) c.2298C>A (p.Leu766=) c.2217C>A (p.Leu739=) c.2166C>A (p.Leu722=) | |
14 | g.33800455C= | CA2128327528 | NPAS3 | c.2148C= (p.Leu716=) c.2157C= (p.Leu719=) c.2048C= c.793+2874C= c.2052C= (p.Leu684=) c.2109C= (p.Leu703=) c.2058C= (p.Leu686=) c.2163C= (p.Leu721=) c.2070C= (p.Leu690=) c.2169C= (p.Leu723=) c.2199C= (p.Leu733=) c.2190C= (p.Leu730=) c.2160C= (p.Leu720=) c.2103C= (p.Leu701=) c.2049C= (p.Leu683=) c.1842C= (p.Leu614=) c.2256C= (p.Leu752=) c.2250C= (p.Leu750=) c.2247C= (p.Leu749=) c.2307C= (p.Leu769=) c.2298C= (p.Leu766=) c.2217C= (p.Leu739=) c.2166C= (p.Leu722=) | |
14 | g.33800455C>G | CA486093180 | NPAS3 | c.2148C>G (p.Leu716=) c.2157C>G (p.Leu719=) c.2048C>G c.793+2874C>G c.2052C>G (p.Leu684=) c.2109C>G (p.Leu703=) c.2058C>G (p.Leu686=) c.2163C>G (p.Leu721=) c.2070C>G (p.Leu690=) c.2169C>G (p.Leu723=) c.2199C>G (p.Leu733=) c.2190C>G (p.Leu730=) c.2160C>G (p.Leu720=) c.2103C>G (p.Leu701=) c.2049C>G (p.Leu683=) c.1842C>G (p.Leu614=) c.2256C>G (p.Leu752=) c.2250C>G (p.Leu750=) c.2247C>G (p.Leu749=) c.2307C>G (p.Leu769=) c.2298C>G (p.Leu766=) c.2217C>G (p.Leu739=) c.2166C>G (p.Leu722=) | |
14 | g.33800455C>T | CA7150959 | NPAS3 | c.2148C>T (p.Leu716=) c.2157C>T (p.Leu719=) c.2048C>T c.793+2874C>T c.2052C>T (p.Leu684=) c.2109C>T (p.Leu703=) c.2058C>T (p.Leu686=) c.2163C>T (p.Leu721=) c.2070C>T (p.Leu690=) c.2169C>T (p.Leu723=) c.2199C>T (p.Leu733=) c.2190C>T (p.Leu730=) c.2160C>T (p.Leu720=) c.2103C>T (p.Leu701=) c.2049C>T (p.Leu683=) c.1842C>T (p.Leu614=) c.2256C>T (p.Leu752=) c.2250C>T (p.Leu750=) c.2247C>T (p.Leu749=) c.2307C>T (p.Leu769=) c.2298C>T (p.Leu766=) c.2217C>T (p.Leu739=) c.2166C>T (p.Leu722=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800456A>C | CA389414085 | NPAS3 | c.2149A>C (p.Thr717Pro) c.2158A>C (p.Thr720Pro) c.2049A>C c.793+2875A>C c.2053A>C (p.Thr685Pro) c.2110A>C (p.Thr704Pro) c.2059A>C (p.Thr687Pro) c.2164A>C (p.Thr722Pro) c.2071A>C (p.Thr691Pro) c.2170A>C (p.Thr724Pro) c.2200A>C (p.Thr734Pro) c.2191A>C (p.Thr731Pro) c.2161A>C (p.Thr721Pro) c.2104A>C (p.Thr702Pro) c.2050A>C (p.Thr684Pro) c.1843A>C (p.Thr615Pro) c.2257A>C (p.Thr753Pro) c.2251A>C (p.Thr751Pro) c.2248A>C (p.Thr750Pro) c.2308A>C (p.Thr770Pro) c.2299A>C (p.Thr767Pro) c.2218A>C (p.Thr740Pro) c.2167A>C (p.Thr723Pro) | |
14 | g.33800456A>G | CA389414083 | NPAS3 | c.2149A>G (p.Thr717Ala) c.2158A>G (p.Thr720Ala) c.2049A>G c.793+2875A>G c.2053A>G (p.Thr685Ala) c.2110A>G (p.Thr704Ala) c.2059A>G (p.Thr687Ala) c.2164A>G (p.Thr722Ala) c.2071A>G (p.Thr691Ala) c.2170A>G (p.Thr724Ala) c.2200A>G (p.Thr734Ala) c.2191A>G (p.Thr731Ala) c.2161A>G (p.Thr721Ala) c.2104A>G (p.Thr702Ala) c.2050A>G (p.Thr684Ala) c.1843A>G (p.Thr615Ala) c.2257A>G (p.Thr753Ala) c.2251A>G (p.Thr751Ala) c.2248A>G (p.Thr750Ala) c.2308A>G (p.Thr770Ala) c.2299A>G (p.Thr767Ala) c.2218A>G (p.Thr740Ala) c.2167A>G (p.Thr723Ala) | |
14 | g.33800456A>T | CA389414084 | NPAS3 | c.2149A>T (p.Thr717Ser) c.2158A>T (p.Thr720Ser) c.2049A>T c.793+2875A>T c.2053A>T (p.Thr685Ser) c.2110A>T (p.Thr704Ser) c.2059A>T (p.Thr687Ser) c.2164A>T (p.Thr722Ser) c.2071A>T (p.Thr691Ser) c.2170A>T (p.Thr724Ser) c.2200A>T (p.Thr734Ser) c.2191A>T (p.Thr731Ser) c.2161A>T (p.Thr721Ser) c.2104A>T (p.Thr702Ser) c.2050A>T (p.Thr684Ser) c.1843A>T (p.Thr615Ser) c.2257A>T (p.Thr753Ser) c.2251A>T (p.Thr751Ser) c.2248A>T (p.Thr750Ser) c.2308A>T (p.Thr770Ser) c.2299A>T (p.Thr767Ser) c.2218A>T (p.Thr740Ser) c.2167A>T (p.Thr723Ser) | |
14 | g.33800457C>A | CA389414086 | NPAS3 | c.2150C>A (p.Thr717Asn) c.2159C>A (p.Thr720Asn) c.2050C>A c.793+2876C>A c.2054C>A (p.Thr685Asn) c.2111C>A (p.Thr704Asn) c.2060C>A (p.Thr687Asn) c.2165C>A (p.Thr722Asn) c.2072C>A (p.Thr691Asn) c.2171C>A (p.Thr724Asn) c.2201C>A (p.Thr734Asn) c.2192C>A (p.Thr731Asn) c.2162C>A (p.Thr721Asn) c.2105C>A (p.Thr702Asn) c.2051C>A (p.Thr684Asn) c.1844C>A (p.Thr615Asn) c.2258C>A (p.Thr753Asn) c.2252C>A (p.Thr751Asn) c.2249C>A (p.Thr750Asn) c.2309C>A (p.Thr770Asn) c.2300C>A (p.Thr767Asn) c.2219C>A (p.Thr740Asn) c.2168C>A (p.Thr723Asn) | gnomAD v4 |
14 | g.33800457C= | CA2128327534 | NPAS3 | c.2150C= (p.Thr717=) c.2159C= (p.Thr720=) c.2050C= c.793+2876C= c.2054C= (p.Thr685=) c.2111C= (p.Thr704=) c.2060C= (p.Thr687=) c.2165C= (p.Thr722=) c.2072C= (p.Thr691=) c.2171C= (p.Thr724=) c.2201C= (p.Thr734=) c.2192C= (p.Thr731=) c.2162C= (p.Thr721=) c.2105C= (p.Thr702=) c.2051C= (p.Thr684=) c.1844C= (p.Thr615=) c.2258C= (p.Thr753=) c.2252C= (p.Thr751=) c.2249C= (p.Thr750=) c.2309C= (p.Thr770=) c.2300C= (p.Thr767=) c.2219C= (p.Thr740=) c.2168C= (p.Thr723=) | |
14 | g.33800457C>G | CA389414087 | NPAS3 | c.2150C>G (p.Thr717Ser) c.2159C>G (p.Thr720Ser) c.2050C>G c.793+2876C>G c.2054C>G (p.Thr685Ser) c.2111C>G (p.Thr704Ser) c.2060C>G (p.Thr687Ser) c.2165C>G (p.Thr722Ser) c.2072C>G (p.Thr691Ser) c.2171C>G (p.Thr724Ser) c.2201C>G (p.Thr734Ser) c.2192C>G (p.Thr731Ser) c.2162C>G (p.Thr721Ser) c.2105C>G (p.Thr702Ser) c.2051C>G (p.Thr684Ser) c.1844C>G (p.Thr615Ser) c.2258C>G (p.Thr753Ser) c.2252C>G (p.Thr751Ser) c.2249C>G (p.Thr750Ser) c.2309C>G (p.Thr770Ser) c.2300C>G (p.Thr767Ser) c.2219C>G (p.Thr740Ser) c.2168C>G (p.Thr723Ser) | |
14 | g.33800457C>T | CA389414088 | NPAS3 | c.2150C>T (p.Thr717Ile) c.2159C>T (p.Thr720Ile) c.2050C>T c.793+2876C>T c.2054C>T (p.Thr685Ile) c.2111C>T (p.Thr704Ile) c.2060C>T (p.Thr687Ile) c.2165C>T (p.Thr722Ile) c.2072C>T (p.Thr691Ile) c.2171C>T (p.Thr724Ile) c.2201C>T (p.Thr734Ile) c.2192C>T (p.Thr731Ile) c.2162C>T (p.Thr721Ile) c.2105C>T (p.Thr702Ile) c.2051C>T (p.Thr684Ile) c.1844C>T (p.Thr615Ile) c.2258C>T (p.Thr753Ile) c.2252C>T (p.Thr751Ile) c.2249C>T (p.Thr750Ile) c.2309C>T (p.Thr770Ile) c.2300C>T (p.Thr767Ile) c.2219C>T (p.Thr740Ile) c.2168C>T (p.Thr723Ile) | dbSNP gnomAD v4 |
14 | g.33800460del | CA2624512036 | NPAS3 | c.2153del (p.Pro718ArgfsTer?) c.2162del (p.Pro721ArgfsTer?) c.2053del c.793+2879del c.2057del (p.Pro686ArgfsTer?) c.2114del (p.Pro705ArgfsTer?) c.2063del (p.Pro688ArgfsTer?) c.2168del (p.Pro723ArgfsTer?) c.2075del (p.Pro692ArgfsTer?) c.2174del (p.Pro725ArgfsTer?) c.2204del (p.Pro735ArgfsTer?) c.2195del (p.Pro732ArgfsTer?) c.2165del (p.Pro722ArgfsTer?) c.2108del (p.Pro703ArgfsTer?) c.2054del (p.Pro685ArgfsTer?) c.1847del (p.Pro616ArgfsTer?) c.2261del (p.Pro754ArgfsTer?) c.2255del (p.Pro752ArgfsTer?) c.2252del (p.Pro751ArgfsTer?) c.2312del (p.Pro771ArgfsTer?) c.2303del (p.Pro768ArgfsTer?) c.2222del (p.Pro741ArgfsTer?) c.2171del (p.Pro724ArgfsTer?) | gnomAD v4 |
14 | g.33800458C>A | CA486093183 | NPAS3 | c.2151C>A (p.Thr717=) c.2160C>A (p.Thr720=) c.2051C>A c.793+2877C>A c.2055C>A (p.Thr685=) c.2112C>A (p.Thr704=) c.2061C>A (p.Thr687=) c.2166C>A (p.Thr722=) c.2073C>A (p.Thr691=) c.2172C>A (p.Thr724=) c.2202C>A (p.Thr734=) c.2193C>A (p.Thr731=) c.2163C>A (p.Thr721=) c.2106C>A (p.Thr702=) c.2052C>A (p.Thr684=) c.1845C>A (p.Thr615=) c.2259C>A (p.Thr753=) c.2253C>A (p.Thr751=) c.2250C>A (p.Thr750=) c.2310C>A (p.Thr770=) c.2301C>A (p.Thr767=) c.2220C>A (p.Thr740=) c.2169C>A (p.Thr723=) | dbSNP gnomAD v4 |
14 | g.33800458C= | CA2128327539 | NPAS3 | c.2151C= (p.Thr717=) c.2160C= (p.Thr720=) c.2051C= c.793+2877C= c.2055C= (p.Thr685=) c.2112C= (p.Thr704=) c.2061C= (p.Thr687=) c.2166C= (p.Thr722=) c.2073C= (p.Thr691=) c.2172C= (p.Thr724=) c.2202C= (p.Thr734=) c.2193C= (p.Thr731=) c.2163C= (p.Thr721=) c.2106C= (p.Thr702=) c.2052C= (p.Thr684=) c.1845C= (p.Thr615=) c.2259C= (p.Thr753=) c.2253C= (p.Thr751=) c.2250C= (p.Thr750=) c.2310C= (p.Thr770=) c.2301C= (p.Thr767=) c.2220C= (p.Thr740=) c.2169C= (p.Thr723=) | |
14 | g.33800458C>G | CA486093184 | NPAS3 | c.2151C>G (p.Thr717=) c.2160C>G (p.Thr720=) c.2051C>G c.793+2877C>G c.2055C>G (p.Thr685=) c.2112C>G (p.Thr704=) c.2061C>G (p.Thr687=) c.2166C>G (p.Thr722=) c.2073C>G (p.Thr691=) c.2172C>G (p.Thr724=) c.2202C>G (p.Thr734=) c.2193C>G (p.Thr731=) c.2163C>G (p.Thr721=) c.2106C>G (p.Thr702=) c.2052C>G (p.Thr684=) c.1845C>G (p.Thr615=) c.2259C>G (p.Thr753=) c.2253C>G (p.Thr751=) c.2250C>G (p.Thr750=) c.2310C>G (p.Thr770=) c.2301C>G (p.Thr767=) c.2220C>G (p.Thr740=) c.2169C>G (p.Thr723=) | |
14 | g.33800458C>T | CA486093185 | NPAS3 | c.2151C>T (p.Thr717=) c.2160C>T (p.Thr720=) c.2051C>T c.793+2877C>T c.2055C>T (p.Thr685=) c.2112C>T (p.Thr704=) c.2061C>T (p.Thr687=) c.2166C>T (p.Thr722=) c.2073C>T (p.Thr691=) c.2172C>T (p.Thr724=) c.2202C>T (p.Thr734=) c.2193C>T (p.Thr731=) c.2163C>T (p.Thr721=) c.2106C>T (p.Thr702=) c.2052C>T (p.Thr684=) c.1845C>T (p.Thr615=) c.2259C>T (p.Thr753=) c.2253C>T (p.Thr751=) c.2250C>T (p.Thr750=) c.2310C>T (p.Thr770=) c.2301C>T (p.Thr767=) c.2220C>T (p.Thr740=) c.2169C>T (p.Thr723=) | dbSNP |
14 | g.33800462_33800465dup | CA705154827 | NPAS3 | c.2155_2158dup (p.Gly720AlafsTer?) c.2164_2167dup (p.Gly723AlafsTer?) c.2055_2058dup c.793+2881_793+2884dup c.2059_2062dup (p.Gly688AlafsTer?) c.2116_2119dup (p.Gly707AlafsTer?) c.2065_2068dup (p.Gly690AlafsTer?) c.2170_2173dup (p.Gly725AlafsTer?) c.2077_2080dup (p.Gly694AlafsTer?) c.2176_2179dup (p.Gly727AlafsTer?) c.2206_2209dup (p.Gly737AlafsTer?) c.2197_2200dup (p.Gly734AlafsTer?) c.2167_2170dup (p.Gly724AlafsTer?) c.2110_2113dup (p.Gly705AlafsTer?) c.2056_2059dup (p.Gly687AlafsTer?) c.1849_1852dup (p.Gly618AlafsTer?) c.2263_2266dup (p.Gly756AlafsTer?) c.2257_2260dup (p.Gly754AlafsTer?) c.2254_2257dup (p.Gly753AlafsTer?) c.2314_2317dup (p.Gly773AlafsTer?) c.2305_2308dup (p.Gly770AlafsTer?) c.2224_2227dup (p.Gly743AlafsTer?) c.2173_2176dup (p.Gly726AlafsTer?) | dbSNP |
14 | g.33800459C>A | CA389414089 | NPAS3 | c.2152C>A (p.Pro718Thr) c.2161C>A (p.Pro721Thr) c.2052C>A c.793+2878C>A c.2056C>A (p.Pro686Thr) c.2113C>A (p.Pro705Thr) c.2062C>A (p.Pro688Thr) c.2167C>A (p.Pro723Thr) c.2074C>A (p.Pro692Thr) c.2173C>A (p.Pro725Thr) c.2203C>A (p.Pro735Thr) c.2194C>A (p.Pro732Thr) c.2164C>A (p.Pro722Thr) c.2107C>A (p.Pro703Thr) c.2053C>A (p.Pro685Thr) c.1846C>A (p.Pro616Thr) c.2260C>A (p.Pro754Thr) c.2254C>A (p.Pro752Thr) c.2251C>A (p.Pro751Thr) c.2311C>A (p.Pro771Thr) c.2302C>A (p.Pro768Thr) c.2221C>A (p.Pro741Thr) c.2170C>A (p.Pro724Thr) | gnomAD v4 |
14 | g.33800459C= | CA2128327543 | NPAS3 | c.2152C= (p.Pro718=) c.2161C= (p.Pro721=) c.2052C= c.793+2878C= c.2056C= (p.Pro686=) c.2113C= (p.Pro705=) c.2062C= (p.Pro688=) c.2167C= (p.Pro723=) c.2074C= (p.Pro692=) c.2173C= (p.Pro725=) c.2203C= (p.Pro735=) c.2194C= (p.Pro732=) c.2164C= (p.Pro722=) c.2107C= (p.Pro703=) c.2053C= (p.Pro685=) c.1846C= (p.Pro616=) c.2260C= (p.Pro754=) c.2254C= (p.Pro752=) c.2251C= (p.Pro751=) c.2311C= (p.Pro771=) c.2302C= (p.Pro768=) c.2221C= (p.Pro741=) c.2170C= (p.Pro724=) | |
14 | g.33800459C>G | CA389414090 | NPAS3 | c.2152C>G (p.Pro718Ala) c.2161C>G (p.Pro721Ala) c.2052C>G c.793+2878C>G c.2056C>G (p.Pro686Ala) c.2113C>G (p.Pro705Ala) c.2062C>G (p.Pro688Ala) c.2167C>G (p.Pro723Ala) c.2074C>G (p.Pro692Ala) c.2173C>G (p.Pro725Ala) c.2203C>G (p.Pro735Ala) c.2194C>G (p.Pro732Ala) c.2164C>G (p.Pro722Ala) c.2107C>G (p.Pro703Ala) c.2053C>G (p.Pro685Ala) c.1846C>G (p.Pro616Ala) c.2260C>G (p.Pro754Ala) c.2254C>G (p.Pro752Ala) c.2251C>G (p.Pro751Ala) c.2311C>G (p.Pro771Ala) c.2302C>G (p.Pro768Ala) c.2221C>G (p.Pro741Ala) c.2170C>G (p.Pro724Ala) | |
14 | g.33800459C>T | CA389414091 | NPAS3 | c.2152C>T (p.Pro718Ser) c.2161C>T (p.Pro721Ser) c.2052C>T c.793+2878C>T c.2056C>T (p.Pro686Ser) c.2113C>T (p.Pro705Ser) c.2062C>T (p.Pro688Ser) c.2167C>T (p.Pro723Ser) c.2074C>T (p.Pro692Ser) c.2173C>T (p.Pro725Ser) c.2203C>T (p.Pro735Ser) c.2194C>T (p.Pro732Ser) c.2164C>T (p.Pro722Ser) c.2107C>T (p.Pro703Ser) c.2053C>T (p.Pro685Ser) c.1846C>T (p.Pro616Ser) c.2260C>T (p.Pro754Ser) c.2254C>T (p.Pro752Ser) c.2251C>T (p.Pro751Ser) c.2311C>T (p.Pro771Ser) c.2302C>T (p.Pro768Ser) c.2221C>T (p.Pro741Ser) c.2170C>T (p.Pro724Ser) | dbSNP gnomAD v2 gnomAD v4 |