Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.33800296C>A | CA389413412 | NPAS3 | c.1989C>A (p.Ser663Arg) c.1998C>A (p.Ser666Arg) c.1889C>A c.793+2715C>A c.1893C>A (p.Ser631Arg) c.1950C>A (p.Ser650Arg) c.1899C>A (p.Ser633Arg) c.2004C>A (p.Ser668Arg) c.1911C>A (p.Ser637Arg) c.2010C>A (p.Ser670Arg) c.2040C>A (p.Ser680Arg) c.2031C>A (p.Ser677Arg) c.2001C>A (p.Ser667Arg) c.1944C>A (p.Ser648Arg) c.1890C>A (p.Ser630Arg) c.1683C>A (p.Ser561Arg) c.2097C>A (p.Ser699Arg) c.2091C>A (p.Ser697Arg) c.2088C>A (p.Ser696Arg) c.2148C>A (p.Ser716Arg) c.2139C>A (p.Ser713Arg) c.2058C>A (p.Ser686Arg) c.2007C>A (p.Ser669Arg) | |
14 | g.33800296C>G | CA389413414 | NPAS3 | c.1989C>G (p.Ser663Arg) c.1998C>G (p.Ser666Arg) c.1889C>G c.793+2715C>G c.1893C>G (p.Ser631Arg) c.1950C>G (p.Ser650Arg) c.1899C>G (p.Ser633Arg) c.2004C>G (p.Ser668Arg) c.1911C>G (p.Ser637Arg) c.2010C>G (p.Ser670Arg) c.2040C>G (p.Ser680Arg) c.2031C>G (p.Ser677Arg) c.2001C>G (p.Ser667Arg) c.1944C>G (p.Ser648Arg) c.1890C>G (p.Ser630Arg) c.1683C>G (p.Ser561Arg) c.2097C>G (p.Ser699Arg) c.2091C>G (p.Ser697Arg) c.2088C>G (p.Ser696Arg) c.2148C>G (p.Ser716Arg) c.2139C>G (p.Ser713Arg) c.2058C>G (p.Ser686Arg) c.2007C>G (p.Ser669Arg) | |
14 | g.33800296C>T | CA486093005 | NPAS3 | c.1989C>T (p.Ser663=) c.1998C>T (p.Ser666=) c.1889C>T c.793+2715C>T c.1893C>T (p.Ser631=) c.1950C>T (p.Ser650=) c.1899C>T (p.Ser633=) c.2004C>T (p.Ser668=) c.1911C>T (p.Ser637=) c.2010C>T (p.Ser670=) c.2040C>T (p.Ser680=) c.2031C>T (p.Ser677=) c.2001C>T (p.Ser667=) c.1944C>T (p.Ser648=) c.1890C>T (p.Ser630=) c.1683C>T (p.Ser561=) c.2097C>T (p.Ser699=) c.2091C>T (p.Ser697=) c.2088C>T (p.Ser696=) c.2148C>T (p.Ser716=) c.2139C>T (p.Ser713=) c.2058C>T (p.Ser686=) c.2007C>T (p.Ser669=) | |
14 | g.33800297A>C | CA389413416 | NPAS3 | c.1990A>C (p.Ile664Leu) c.1999A>C (p.Ile667Leu) c.1890A>C c.793+2716A>C c.1894A>C (p.Ile632Leu) c.1951A>C (p.Ile651Leu) c.1900A>C (p.Ile634Leu) c.2005A>C (p.Ile669Leu) c.1912A>C (p.Ile638Leu) c.2011A>C (p.Ile671Leu) c.2041A>C (p.Ile681Leu) c.2032A>C (p.Ile678Leu) c.2002A>C (p.Ile668Leu) c.1945A>C (p.Ile649Leu) c.1891A>C (p.Ile631Leu) c.1684A>C (p.Ile562Leu) c.2098A>C (p.Ile700Leu) c.2092A>C (p.Ile698Leu) c.2089A>C (p.Ile697Leu) c.2149A>C (p.Ile717Leu) c.2140A>C (p.Ile714Leu) c.2059A>C (p.Ile687Leu) c.2008A>C (p.Ile670Leu) | |
14 | g.33800297A>G | CA389413417 | NPAS3 | c.1990A>G (p.Ile664Val) c.1999A>G (p.Ile667Val) c.1890A>G c.793+2716A>G c.1894A>G (p.Ile632Val) c.1951A>G (p.Ile651Val) c.1900A>G (p.Ile634Val) c.2005A>G (p.Ile669Val) c.1912A>G (p.Ile638Val) c.2011A>G (p.Ile671Val) c.2041A>G (p.Ile681Val) c.2032A>G (p.Ile678Val) c.2002A>G (p.Ile668Val) c.1945A>G (p.Ile649Val) c.1891A>G (p.Ile631Val) c.1684A>G (p.Ile562Val) c.2098A>G (p.Ile700Val) c.2092A>G (p.Ile698Val) c.2089A>G (p.Ile697Val) c.2149A>G (p.Ile717Val) c.2140A>G (p.Ile714Val) c.2059A>G (p.Ile687Val) c.2008A>G (p.Ile670Val) | gnomAD v4 |
14 | g.33800297A>T | CA389413418 | NPAS3 | c.1990A>T (p.Ile664Phe) c.1999A>T (p.Ile667Phe) c.1890A>T c.793+2716A>T c.1894A>T (p.Ile632Phe) c.1951A>T (p.Ile651Phe) c.1900A>T (p.Ile634Phe) c.2005A>T (p.Ile669Phe) c.1912A>T (p.Ile638Phe) c.2011A>T (p.Ile671Phe) c.2041A>T (p.Ile681Phe) c.2032A>T (p.Ile678Phe) c.2002A>T (p.Ile668Phe) c.1945A>T (p.Ile649Phe) c.1891A>T (p.Ile631Phe) c.1684A>T (p.Ile562Phe) c.2098A>T (p.Ile700Phe) c.2092A>T (p.Ile698Phe) c.2089A>T (p.Ile697Phe) c.2149A>T (p.Ile717Phe) c.2140A>T (p.Ile714Phe) c.2059A>T (p.Ile687Phe) c.2008A>T (p.Ile670Phe) | |
14 | g.33800298T>A | CA389413421 | NPAS3 | c.1991T>A (p.Ile664Asn) c.2000T>A (p.Ile667Asn) c.1891T>A c.793+2717T>A c.1895T>A (p.Ile632Asn) c.1952T>A (p.Ile651Asn) c.1901T>A (p.Ile634Asn) c.2006T>A (p.Ile669Asn) c.1913T>A (p.Ile638Asn) c.2012T>A (p.Ile671Asn) c.2042T>A (p.Ile681Asn) c.2033T>A (p.Ile678Asn) c.2003T>A (p.Ile668Asn) c.1946T>A (p.Ile649Asn) c.1892T>A (p.Ile631Asn) c.1685T>A (p.Ile562Asn) c.2099T>A (p.Ile700Asn) c.2093T>A (p.Ile698Asn) c.2090T>A (p.Ile697Asn) c.2150T>A (p.Ile717Asn) c.2141T>A (p.Ile714Asn) c.2060T>A (p.Ile687Asn) c.2009T>A (p.Ile670Asn) | |
14 | g.33800298T>C | CA389413422 | NPAS3 | c.1991T>C (p.Ile664Thr) c.2000T>C (p.Ile667Thr) c.1891T>C c.793+2717T>C c.1895T>C (p.Ile632Thr) c.1952T>C (p.Ile651Thr) c.1901T>C (p.Ile634Thr) c.2006T>C (p.Ile669Thr) c.1913T>C (p.Ile638Thr) c.2012T>C (p.Ile671Thr) c.2042T>C (p.Ile681Thr) c.2033T>C (p.Ile678Thr) c.2003T>C (p.Ile668Thr) c.1946T>C (p.Ile649Thr) c.1892T>C (p.Ile631Thr) c.1685T>C (p.Ile562Thr) c.2099T>C (p.Ile700Thr) c.2093T>C (p.Ile698Thr) c.2090T>C (p.Ile697Thr) c.2150T>C (p.Ile717Thr) c.2141T>C (p.Ile714Thr) c.2060T>C (p.Ile687Thr) c.2009T>C (p.Ile670Thr) | |
14 | g.33800298T>G | CA389413423 | NPAS3 | c.1991T>G (p.Ile664Ser) c.2000T>G (p.Ile667Ser) c.1891T>G c.793+2717T>G c.1895T>G (p.Ile632Ser) c.1952T>G (p.Ile651Ser) c.1901T>G (p.Ile634Ser) c.2006T>G (p.Ile669Ser) c.1913T>G (p.Ile638Ser) c.2012T>G (p.Ile671Ser) c.2042T>G (p.Ile681Ser) c.2033T>G (p.Ile678Ser) c.2003T>G (p.Ile668Ser) c.1946T>G (p.Ile649Ser) c.1892T>G (p.Ile631Ser) c.1685T>G (p.Ile562Ser) c.2099T>G (p.Ile700Ser) c.2093T>G (p.Ile698Ser) c.2090T>G (p.Ile697Ser) c.2150T>G (p.Ile717Ser) c.2141T>G (p.Ile714Ser) c.2060T>G (p.Ile687Ser) c.2009T>G (p.Ile670Ser) | |
14 | g.33800299C>A | CA486093006 | NPAS3 | c.1992C>A (p.Ile664=) c.2001C>A (p.Ile667=) c.1892C>A c.793+2718C>A c.1896C>A (p.Ile632=) c.1953C>A (p.Ile651=) c.1902C>A (p.Ile634=) c.2007C>A (p.Ile669=) c.1914C>A (p.Ile638=) c.2013C>A (p.Ile671=) c.2043C>A (p.Ile681=) c.2034C>A (p.Ile678=) c.2004C>A (p.Ile668=) c.1947C>A (p.Ile649=) c.1893C>A (p.Ile631=) c.1686C>A (p.Ile562=) c.2100C>A (p.Ile700=) c.2094C>A (p.Ile698=) c.2091C>A (p.Ile697=) c.2151C>A (p.Ile717=) c.2142C>A (p.Ile714=) c.2061C>A (p.Ile687=) c.2010C>A (p.Ile670=) | |
14 | g.33800299C>G | CA389413425 | NPAS3 | c.1992C>G (p.Ile664Met) c.2001C>G (p.Ile667Met) c.1892C>G c.793+2718C>G c.1896C>G (p.Ile632Met) c.1953C>G (p.Ile651Met) c.1902C>G (p.Ile634Met) c.2007C>G (p.Ile669Met) c.1914C>G (p.Ile638Met) c.2013C>G (p.Ile671Met) c.2043C>G (p.Ile681Met) c.2034C>G (p.Ile678Met) c.2004C>G (p.Ile668Met) c.1947C>G (p.Ile649Met) c.1893C>G (p.Ile631Met) c.1686C>G (p.Ile562Met) c.2100C>G (p.Ile700Met) c.2094C>G (p.Ile698Met) c.2091C>G (p.Ile697Met) c.2151C>G (p.Ile717Met) c.2142C>G (p.Ile714Met) c.2061C>G (p.Ile687Met) c.2010C>G (p.Ile670Met) | |
14 | g.33800299C>T | CA486093007 | NPAS3 | c.1992C>T (p.Ile664=) c.2001C>T (p.Ile667=) c.1892C>T c.793+2718C>T c.1896C>T (p.Ile632=) c.1953C>T (p.Ile651=) c.1902C>T (p.Ile634=) c.2007C>T (p.Ile669=) c.1914C>T (p.Ile638=) c.2013C>T (p.Ile671=) c.2043C>T (p.Ile681=) c.2034C>T (p.Ile678=) c.2004C>T (p.Ile668=) c.1947C>T (p.Ile649=) c.1893C>T (p.Ile631=) c.1686C>T (p.Ile562=) c.2100C>T (p.Ile700=) c.2094C>T (p.Ile698=) c.2091C>T (p.Ile697=) c.2151C>T (p.Ile717=) c.2142C>T (p.Ile714=) c.2061C>T (p.Ile687=) c.2010C>T (p.Ile670=) | |
14 | g.33800300T>A | CA389413427 | NPAS3 | c.1993T>A (p.Trp665Arg) c.2002T>A (p.Trp668Arg) c.1893T>A c.793+2719T>A c.1897T>A (p.Trp633Arg) c.1954T>A (p.Trp652Arg) c.1903T>A (p.Trp635Arg) c.2008T>A (p.Trp670Arg) c.1915T>A (p.Trp639Arg) c.2014T>A (p.Trp672Arg) c.2044T>A (p.Trp682Arg) c.2035T>A (p.Trp679Arg) c.2005T>A (p.Trp669Arg) c.1948T>A (p.Trp650Arg) c.1894T>A (p.Trp632Arg) c.1687T>A (p.Trp563Arg) c.2101T>A (p.Trp701Arg) c.2095T>A (p.Trp699Arg) c.2092T>A (p.Trp698Arg) c.2152T>A (p.Trp718Arg) c.2143T>A (p.Trp715Arg) c.2062T>A (p.Trp688Arg) c.2011T>A (p.Trp671Arg) | |
14 | g.33800300T>C | CA389413429 | NPAS3 | c.1993T>C (p.Trp665Arg) c.2002T>C (p.Trp668Arg) c.1893T>C c.793+2719T>C c.1897T>C (p.Trp633Arg) c.1954T>C (p.Trp652Arg) c.1903T>C (p.Trp635Arg) c.2008T>C (p.Trp670Arg) c.1915T>C (p.Trp639Arg) c.2014T>C (p.Trp672Arg) c.2044T>C (p.Trp682Arg) c.2035T>C (p.Trp679Arg) c.2005T>C (p.Trp669Arg) c.1948T>C (p.Trp650Arg) c.1894T>C (p.Trp632Arg) c.1687T>C (p.Trp563Arg) c.2101T>C (p.Trp701Arg) c.2095T>C (p.Trp699Arg) c.2092T>C (p.Trp698Arg) c.2152T>C (p.Trp718Arg) c.2143T>C (p.Trp715Arg) c.2062T>C (p.Trp688Arg) c.2011T>C (p.Trp671Arg) | |
14 | g.33800300T>G | CA389413428 | NPAS3 | c.1993T>G (p.Trp665Gly) c.2002T>G (p.Trp668Gly) c.1893T>G c.793+2719T>G c.1897T>G (p.Trp633Gly) c.1954T>G (p.Trp652Gly) c.1903T>G (p.Trp635Gly) c.2008T>G (p.Trp670Gly) c.1915T>G (p.Trp639Gly) c.2014T>G (p.Trp672Gly) c.2044T>G (p.Trp682Gly) c.2035T>G (p.Trp679Gly) c.2005T>G (p.Trp669Gly) c.1948T>G (p.Trp650Gly) c.1894T>G (p.Trp632Gly) c.1687T>G (p.Trp563Gly) c.2101T>G (p.Trp701Gly) c.2095T>G (p.Trp699Gly) c.2092T>G (p.Trp698Gly) c.2152T>G (p.Trp718Gly) c.2143T>G (p.Trp715Gly) c.2062T>G (p.Trp688Gly) c.2011T>G (p.Trp671Gly) | |
14 | g.33800301G>A | CA389413430 | NPAS3 | c.1994G>A (p.Trp665Ter) c.2003G>A (p.Trp668Ter) c.1894G>A c.793+2720G>A c.1898G>A (p.Trp633Ter) c.1955G>A (p.Trp652Ter) c.1904G>A (p.Trp635Ter) c.2009G>A (p.Trp670Ter) c.1916G>A (p.Trp639Ter) c.2015G>A (p.Trp672Ter) c.2045G>A (p.Trp682Ter) c.2036G>A (p.Trp679Ter) c.2006G>A (p.Trp669Ter) c.1949G>A (p.Trp650Ter) c.1895G>A (p.Trp632Ter) c.1688G>A (p.Trp563Ter) c.2102G>A (p.Trp701Ter) c.2096G>A (p.Trp699Ter) c.2093G>A (p.Trp698Ter) c.2153G>A (p.Trp718Ter) c.2144G>A (p.Trp715Ter) c.2063G>A (p.Trp688Ter) c.2012G>A (p.Trp671Ter) | gnomAD v4 |
14 | g.33800301G>C | CA389413432 | NPAS3 | c.1994G>C (p.Trp665Ser) c.2003G>C (p.Trp668Ser) c.1894G>C c.793+2720G>C c.1898G>C (p.Trp633Ser) c.1955G>C (p.Trp652Ser) c.1904G>C (p.Trp635Ser) c.2009G>C (p.Trp670Ser) c.1916G>C (p.Trp639Ser) c.2015G>C (p.Trp672Ser) c.2045G>C (p.Trp682Ser) c.2036G>C (p.Trp679Ser) c.2006G>C (p.Trp669Ser) c.1949G>C (p.Trp650Ser) c.1895G>C (p.Trp632Ser) c.1688G>C (p.Trp563Ser) c.2102G>C (p.Trp701Ser) c.2096G>C (p.Trp699Ser) c.2093G>C (p.Trp698Ser) c.2153G>C (p.Trp718Ser) c.2144G>C (p.Trp715Ser) c.2063G>C (p.Trp688Ser) c.2012G>C (p.Trp671Ser) | |
14 | g.33800301G>T | CA389413434 | NPAS3 | c.1994G>T (p.Trp665Leu) c.2003G>T (p.Trp668Leu) c.1894G>T c.793+2720G>T c.1898G>T (p.Trp633Leu) c.1955G>T (p.Trp652Leu) c.1904G>T (p.Trp635Leu) c.2009G>T (p.Trp670Leu) c.1916G>T (p.Trp639Leu) c.2015G>T (p.Trp672Leu) c.2045G>T (p.Trp682Leu) c.2036G>T (p.Trp679Leu) c.2006G>T (p.Trp669Leu) c.1949G>T (p.Trp650Leu) c.1895G>T (p.Trp632Leu) c.1688G>T (p.Trp563Leu) c.2102G>T (p.Trp701Leu) c.2096G>T (p.Trp699Leu) c.2093G>T (p.Trp698Leu) c.2153G>T (p.Trp718Leu) c.2144G>T (p.Trp715Leu) c.2063G>T (p.Trp688Leu) c.2012G>T (p.Trp671Leu) | |
14 | g.33800302G>A | CA389413435 | NPAS3 | c.1995G>A (p.Trp665Ter) c.2004G>A (p.Trp668Ter) c.1895G>A c.793+2721G>A c.1899G>A (p.Trp633Ter) c.1956G>A (p.Trp652Ter) c.1905G>A (p.Trp635Ter) c.2010G>A (p.Trp670Ter) c.1917G>A (p.Trp639Ter) c.2016G>A (p.Trp672Ter) c.2046G>A (p.Trp682Ter) c.2037G>A (p.Trp679Ter) c.2007G>A (p.Trp669Ter) c.1950G>A (p.Trp650Ter) c.1896G>A (p.Trp632Ter) c.1689G>A (p.Trp563Ter) c.2103G>A (p.Trp701Ter) c.2097G>A (p.Trp699Ter) c.2094G>A (p.Trp698Ter) c.2154G>A (p.Trp718Ter) c.2145G>A (p.Trp715Ter) c.2064G>A (p.Trp688Ter) c.2013G>A (p.Trp671Ter) | |
14 | g.33800302G>C | CA389413437 | NPAS3 | c.1995G>C (p.Trp665Cys) c.2004G>C (p.Trp668Cys) c.1895G>C c.793+2721G>C c.1899G>C (p.Trp633Cys) c.1956G>C (p.Trp652Cys) c.1905G>C (p.Trp635Cys) c.2010G>C (p.Trp670Cys) c.1917G>C (p.Trp639Cys) c.2016G>C (p.Trp672Cys) c.2046G>C (p.Trp682Cys) c.2037G>C (p.Trp679Cys) c.2007G>C (p.Trp669Cys) c.1950G>C (p.Trp650Cys) c.1896G>C (p.Trp632Cys) c.1689G>C (p.Trp563Cys) c.2103G>C (p.Trp701Cys) c.2097G>C (p.Trp699Cys) c.2094G>C (p.Trp698Cys) c.2154G>C (p.Trp718Cys) c.2145G>C (p.Trp715Cys) c.2064G>C (p.Trp688Cys) c.2013G>C (p.Trp671Cys) | |
14 | g.33800302G>T | CA389413439 | NPAS3 | c.1995G>T (p.Trp665Cys) c.2004G>T (p.Trp668Cys) c.1895G>T c.793+2721G>T c.1899G>T (p.Trp633Cys) c.1956G>T (p.Trp652Cys) c.1905G>T (p.Trp635Cys) c.2010G>T (p.Trp670Cys) c.1917G>T (p.Trp639Cys) c.2016G>T (p.Trp672Cys) c.2046G>T (p.Trp682Cys) c.2037G>T (p.Trp679Cys) c.2007G>T (p.Trp669Cys) c.1950G>T (p.Trp650Cys) c.1896G>T (p.Trp632Cys) c.1689G>T (p.Trp563Cys) c.2103G>T (p.Trp701Cys) c.2097G>T (p.Trp699Cys) c.2094G>T (p.Trp698Cys) c.2154G>T (p.Trp718Cys) c.2145G>T (p.Trp715Cys) c.2064G>T (p.Trp688Cys) c.2013G>T (p.Trp671Cys) | |
14 | g.33800303A= | CA2128327225 | NPAS3 | c.1996A= (p.Asn666=) c.2005A= (p.Asn669=) c.1896A= c.793+2722A= c.1900A= (p.Asn634=) c.1957A= (p.Asn653=) c.1906A= (p.Asn636=) c.2011A= (p.Asn671=) c.1918A= (p.Asn640=) c.2017A= (p.Asn673=) c.2047A= (p.Asn683=) c.2038A= (p.Asn680=) c.2008A= (p.Asn670=) c.1951A= (p.Asn651=) c.1897A= (p.Asn633=) c.1690A= (p.Asn564=) c.2104A= (p.Asn702=) c.2098A= (p.Asn700=) c.2095A= (p.Asn699=) c.2155A= (p.Asn719=) c.2146A= (p.Asn716=) c.2065A= (p.Asn689=) c.2014A= (p.Asn672=) | |
14 | g.33800303A>C | CA389413440 | NPAS3 | c.1996A>C (p.Asn666His) c.2005A>C (p.Asn669His) c.1896A>C c.793+2722A>C c.1900A>C (p.Asn634His) c.1957A>C (p.Asn653His) c.1906A>C (p.Asn636His) c.2011A>C (p.Asn671His) c.1918A>C (p.Asn640His) c.2017A>C (p.Asn673His) c.2047A>C (p.Asn683His) c.2038A>C (p.Asn680His) c.2008A>C (p.Asn670His) c.1951A>C (p.Asn651His) c.1897A>C (p.Asn633His) c.1690A>C (p.Asn564His) c.2104A>C (p.Asn702His) c.2098A>C (p.Asn700His) c.2095A>C (p.Asn699His) c.2155A>C (p.Asn719His) c.2146A>C (p.Asn716His) c.2065A>C (p.Asn689His) c.2014A>C (p.Asn672His) | |
14 | g.33800303A>G | CA389413442 | NPAS3 | c.1996A>G (p.Asn666Asp) c.2005A>G (p.Asn669Asp) c.1896A>G c.793+2722A>G c.1900A>G (p.Asn634Asp) c.1957A>G (p.Asn653Asp) c.1906A>G (p.Asn636Asp) c.2011A>G (p.Asn671Asp) c.1918A>G (p.Asn640Asp) c.2017A>G (p.Asn673Asp) c.2047A>G (p.Asn683Asp) c.2038A>G (p.Asn680Asp) c.2008A>G (p.Asn670Asp) c.1951A>G (p.Asn651Asp) c.1897A>G (p.Asn633Asp) c.1690A>G (p.Asn564Asp) c.2104A>G (p.Asn702Asp) c.2098A>G (p.Asn700Asp) c.2095A>G (p.Asn699Asp) c.2155A>G (p.Asn719Asp) c.2146A>G (p.Asn716Asp) c.2065A>G (p.Asn689Asp) c.2014A>G (p.Asn672Asp) | |
14 | g.33800303A>T | CA389413443 | NPAS3 | c.1996A>T (p.Asn666Tyr) c.2005A>T (p.Asn669Tyr) c.1896A>T c.793+2722A>T c.1900A>T (p.Asn634Tyr) c.1957A>T (p.Asn653Tyr) c.1906A>T (p.Asn636Tyr) c.2011A>T (p.Asn671Tyr) c.1918A>T (p.Asn640Tyr) c.2017A>T (p.Asn673Tyr) c.2047A>T (p.Asn683Tyr) c.2038A>T (p.Asn680Tyr) c.2008A>T (p.Asn670Tyr) c.1951A>T (p.Asn651Tyr) c.1897A>T (p.Asn633Tyr) c.1690A>T (p.Asn564Tyr) c.2104A>T (p.Asn702Tyr) c.2098A>T (p.Asn700Tyr) c.2095A>T (p.Asn699Tyr) c.2155A>T (p.Asn719Tyr) c.2146A>T (p.Asn716Tyr) c.2065A>T (p.Asn689Tyr) c.2014A>T (p.Asn672Tyr) | dbSNP gnomAD v4 |
14 | g.33800304A= | CA2128327228 | NPAS3 | c.1997A= (p.Asn666=) c.2006A= (p.Asn669=) c.1897A= c.793+2723A= c.1901A= (p.Asn634=) c.1958A= (p.Asn653=) c.1907A= (p.Asn636=) c.2012A= (p.Asn671=) c.1919A= (p.Asn640=) c.2018A= (p.Asn673=) c.2048A= (p.Asn683=) c.2039A= (p.Asn680=) c.2009A= (p.Asn670=) c.1952A= (p.Asn651=) c.1898A= (p.Asn633=) c.1691A= (p.Asn564=) c.2105A= (p.Asn702=) c.2099A= (p.Asn700=) c.2096A= (p.Asn699=) c.2156A= (p.Asn719=) c.2147A= (p.Asn716=) c.2066A= (p.Asn689=) c.2015A= (p.Asn672=) | |
14 | g.33800304A>C | CA389413446 | NPAS3 | c.1997A>C (p.Asn666Thr) c.2006A>C (p.Asn669Thr) c.1897A>C c.793+2723A>C c.1901A>C (p.Asn634Thr) c.1958A>C (p.Asn653Thr) c.1907A>C (p.Asn636Thr) c.2012A>C (p.Asn671Thr) c.1919A>C (p.Asn640Thr) c.2018A>C (p.Asn673Thr) c.2048A>C (p.Asn683Thr) c.2039A>C (p.Asn680Thr) c.2009A>C (p.Asn670Thr) c.1952A>C (p.Asn651Thr) c.1898A>C (p.Asn633Thr) c.1691A>C (p.Asn564Thr) c.2105A>C (p.Asn702Thr) c.2099A>C (p.Asn700Thr) c.2096A>C (p.Asn699Thr) c.2156A>C (p.Asn719Thr) c.2147A>C (p.Asn716Thr) c.2066A>C (p.Asn689Thr) c.2015A>C (p.Asn672Thr) | |
14 | g.33800304A>G | CA389413447 | NPAS3 | c.1997A>G (p.Asn666Ser) c.2006A>G (p.Asn669Ser) c.1897A>G c.793+2723A>G c.1901A>G (p.Asn634Ser) c.1958A>G (p.Asn653Ser) c.1907A>G (p.Asn636Ser) c.2012A>G (p.Asn671Ser) c.1919A>G (p.Asn640Ser) c.2018A>G (p.Asn673Ser) c.2048A>G (p.Asn683Ser) c.2039A>G (p.Asn680Ser) c.2009A>G (p.Asn670Ser) c.1952A>G (p.Asn651Ser) c.1898A>G (p.Asn633Ser) c.1691A>G (p.Asn564Ser) c.2105A>G (p.Asn702Ser) c.2099A>G (p.Asn700Ser) c.2096A>G (p.Asn699Ser) c.2156A>G (p.Asn719Ser) c.2147A>G (p.Asn716Ser) c.2066A>G (p.Asn689Ser) c.2015A>G (p.Asn672Ser) | dbSNP |
14 | g.33800304A>T | CA389413449 | NPAS3 | c.1997A>T (p.Asn666Ile) c.2006A>T (p.Asn669Ile) c.1897A>T c.793+2723A>T c.1901A>T (p.Asn634Ile) c.1958A>T (p.Asn653Ile) c.1907A>T (p.Asn636Ile) c.2012A>T (p.Asn671Ile) c.1919A>T (p.Asn640Ile) c.2018A>T (p.Asn673Ile) c.2048A>T (p.Asn683Ile) c.2039A>T (p.Asn680Ile) c.2009A>T (p.Asn670Ile) c.1952A>T (p.Asn651Ile) c.1898A>T (p.Asn633Ile) c.1691A>T (p.Asn564Ile) c.2105A>T (p.Asn702Ile) c.2099A>T (p.Asn700Ile) c.2096A>T (p.Asn699Ile) c.2156A>T (p.Asn719Ile) c.2147A>T (p.Asn716Ile) c.2066A>T (p.Asn689Ile) c.2015A>T (p.Asn672Ile) | |
14 | g.33800305C>A | CA389413451 | NPAS3 | c.1998C>A (p.Asn666Lys) c.2007C>A (p.Asn669Lys) c.1898C>A c.793+2724C>A c.1902C>A (p.Asn634Lys) c.1959C>A (p.Asn653Lys) c.1908C>A (p.Asn636Lys) c.2013C>A (p.Asn671Lys) c.1920C>A (p.Asn640Lys) c.2019C>A (p.Asn673Lys) c.2049C>A (p.Asn683Lys) c.2040C>A (p.Asn680Lys) c.2010C>A (p.Asn670Lys) c.1953C>A (p.Asn651Lys) c.1899C>A (p.Asn633Lys) c.1692C>A (p.Asn564Lys) c.2106C>A (p.Asn702Lys) c.2100C>A (p.Asn700Lys) c.2097C>A (p.Asn699Lys) c.2157C>A (p.Asn719Lys) c.2148C>A (p.Asn716Lys) c.2067C>A (p.Asn689Lys) c.2016C>A (p.Asn672Lys) | gnomAD v4 |
14 | g.33800305C= | CA2128327230 | NPAS3 | c.1998C= (p.Asn666=) c.2007C= (p.Asn669=) c.1898C= c.793+2724C= c.1902C= (p.Asn634=) c.1959C= (p.Asn653=) c.1908C= (p.Asn636=) c.2013C= (p.Asn671=) c.1920C= (p.Asn640=) c.2019C= (p.Asn673=) c.2049C= (p.Asn683=) c.2040C= (p.Asn680=) c.2010C= (p.Asn670=) c.1953C= (p.Asn651=) c.1899C= (p.Asn633=) c.1692C= (p.Asn564=) c.2106C= (p.Asn702=) c.2100C= (p.Asn700=) c.2097C= (p.Asn699=) c.2157C= (p.Asn719=) c.2148C= (p.Asn716=) c.2067C= (p.Asn689=) c.2016C= (p.Asn672=) | |
14 | g.33800305C>G | CA389413453 | NPAS3 | c.1998C>G (p.Asn666Lys) c.2007C>G (p.Asn669Lys) c.1898C>G c.793+2724C>G c.1902C>G (p.Asn634Lys) c.1959C>G (p.Asn653Lys) c.1908C>G (p.Asn636Lys) c.2013C>G (p.Asn671Lys) c.1920C>G (p.Asn640Lys) c.2019C>G (p.Asn673Lys) c.2049C>G (p.Asn683Lys) c.2040C>G (p.Asn680Lys) c.2010C>G (p.Asn670Lys) c.1953C>G (p.Asn651Lys) c.1899C>G (p.Asn633Lys) c.1692C>G (p.Asn564Lys) c.2106C>G (p.Asn702Lys) c.2100C>G (p.Asn700Lys) c.2097C>G (p.Asn699Lys) c.2157C>G (p.Asn719Lys) c.2148C>G (p.Asn716Lys) c.2067C>G (p.Asn689Lys) c.2016C>G (p.Asn672Lys) | |
14 | g.33800305C>T | CA486093008 | NPAS3 | c.1998C>T (p.Asn666=) c.2007C>T (p.Asn669=) c.1898C>T c.793+2724C>T c.1902C>T (p.Asn634=) c.1959C>T (p.Asn653=) c.1908C>T (p.Asn636=) c.2013C>T (p.Asn671=) c.1920C>T (p.Asn640=) c.2019C>T (p.Asn673=) c.2049C>T (p.Asn683=) c.2040C>T (p.Asn680=) c.2010C>T (p.Asn670=) c.1953C>T (p.Asn651=) c.1899C>T (p.Asn633=) c.1692C>T (p.Asn564=) c.2106C>T (p.Asn702=) c.2100C>T (p.Asn700=) c.2097C>T (p.Asn699=) c.2157C>T (p.Asn719=) c.2148C>T (p.Asn716=) c.2067C>T (p.Asn689=) c.2016C>T (p.Asn672=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800306T>A | CA389413455 | NPAS3 | c.1999T>A (p.Tyr667Asn) c.2008T>A (p.Tyr670Asn) c.1899T>A c.793+2725T>A c.1903T>A (p.Tyr635Asn) c.1960T>A (p.Tyr654Asn) c.1909T>A (p.Tyr637Asn) c.2014T>A (p.Tyr672Asn) c.1921T>A (p.Tyr641Asn) c.2020T>A (p.Tyr674Asn) c.2050T>A (p.Tyr684Asn) c.2041T>A (p.Tyr681Asn) c.2011T>A (p.Tyr671Asn) c.1954T>A (p.Tyr652Asn) c.1900T>A (p.Tyr634Asn) c.1693T>A (p.Tyr565Asn) c.2107T>A (p.Tyr703Asn) c.2101T>A (p.Tyr701Asn) c.2098T>A (p.Tyr700Asn) c.2158T>A (p.Tyr720Asn) c.2149T>A (p.Tyr717Asn) c.2068T>A (p.Tyr690Asn) c.2017T>A (p.Tyr673Asn) | |
14 | g.33800306T>C | CA389413456 | NPAS3 | c.1999T>C (p.Tyr667His) c.2008T>C (p.Tyr670His) c.1899T>C c.793+2725T>C c.1903T>C (p.Tyr635His) c.1960T>C (p.Tyr654His) c.1909T>C (p.Tyr637His) c.2014T>C (p.Tyr672His) c.1921T>C (p.Tyr641His) c.2020T>C (p.Tyr674His) c.2050T>C (p.Tyr684His) c.2041T>C (p.Tyr681His) c.2011T>C (p.Tyr671His) c.1954T>C (p.Tyr652His) c.1900T>C (p.Tyr634His) c.1693T>C (p.Tyr565His) c.2107T>C (p.Tyr703His) c.2101T>C (p.Tyr701His) c.2098T>C (p.Tyr700His) c.2158T>C (p.Tyr720His) c.2149T>C (p.Tyr717His) c.2068T>C (p.Tyr690His) c.2017T>C (p.Tyr673His) | |
14 | g.33800306T>G | CA389413458 | NPAS3 | c.1999T>G (p.Tyr667Asp) c.2008T>G (p.Tyr670Asp) c.1899T>G c.793+2725T>G c.1903T>G (p.Tyr635Asp) c.1960T>G (p.Tyr654Asp) c.1909T>G (p.Tyr637Asp) c.2014T>G (p.Tyr672Asp) c.1921T>G (p.Tyr641Asp) c.2020T>G (p.Tyr674Asp) c.2050T>G (p.Tyr684Asp) c.2041T>G (p.Tyr681Asp) c.2011T>G (p.Tyr671Asp) c.1954T>G (p.Tyr652Asp) c.1900T>G (p.Tyr634Asp) c.1693T>G (p.Tyr565Asp) c.2107T>G (p.Tyr703Asp) c.2101T>G (p.Tyr701Asp) c.2098T>G (p.Tyr700Asp) c.2158T>G (p.Tyr720Asp) c.2149T>G (p.Tyr717Asp) c.2068T>G (p.Tyr690Asp) c.2017T>G (p.Tyr673Asp) | |
14 | g.33800307A>C | CA389413460 | NPAS3 | c.2000A>C (p.Tyr667Ser) c.2009A>C (p.Tyr670Ser) c.1900A>C c.793+2726A>C c.1904A>C (p.Tyr635Ser) c.1961A>C (p.Tyr654Ser) c.1910A>C (p.Tyr637Ser) c.2015A>C (p.Tyr672Ser) c.1922A>C (p.Tyr641Ser) c.2021A>C (p.Tyr674Ser) c.2051A>C (p.Tyr684Ser) c.2042A>C (p.Tyr681Ser) c.2012A>C (p.Tyr671Ser) c.1955A>C (p.Tyr652Ser) c.1901A>C (p.Tyr634Ser) c.1694A>C (p.Tyr565Ser) c.2108A>C (p.Tyr703Ser) c.2102A>C (p.Tyr701Ser) c.2099A>C (p.Tyr700Ser) c.2159A>C (p.Tyr720Ser) c.2150A>C (p.Tyr717Ser) c.2069A>C (p.Tyr690Ser) c.2018A>C (p.Tyr673Ser) | |
14 | g.33800307A>G | CA389413462 | NPAS3 | c.2000A>G (p.Tyr667Cys) c.2009A>G (p.Tyr670Cys) c.1900A>G c.793+2726A>G c.1904A>G (p.Tyr635Cys) c.1961A>G (p.Tyr654Cys) c.1910A>G (p.Tyr637Cys) c.2015A>G (p.Tyr672Cys) c.1922A>G (p.Tyr641Cys) c.2021A>G (p.Tyr674Cys) c.2051A>G (p.Tyr684Cys) c.2042A>G (p.Tyr681Cys) c.2012A>G (p.Tyr671Cys) c.1955A>G (p.Tyr652Cys) c.1901A>G (p.Tyr634Cys) c.1694A>G (p.Tyr565Cys) c.2108A>G (p.Tyr703Cys) c.2102A>G (p.Tyr701Cys) c.2099A>G (p.Tyr700Cys) c.2159A>G (p.Tyr720Cys) c.2150A>G (p.Tyr717Cys) c.2069A>G (p.Tyr690Cys) c.2018A>G (p.Tyr673Cys) | gnomAD v4 |
14 | g.33800307A>T | CA389413464 | NPAS3 | c.2000A>T (p.Tyr667Phe) c.2009A>T (p.Tyr670Phe) c.1900A>T c.793+2726A>T c.1904A>T (p.Tyr635Phe) c.1961A>T (p.Tyr654Phe) c.1910A>T (p.Tyr637Phe) c.2015A>T (p.Tyr672Phe) c.1922A>T (p.Tyr641Phe) c.2021A>T (p.Tyr674Phe) c.2051A>T (p.Tyr684Phe) c.2042A>T (p.Tyr681Phe) c.2012A>T (p.Tyr671Phe) c.1955A>T (p.Tyr652Phe) c.1901A>T (p.Tyr634Phe) c.1694A>T (p.Tyr565Phe) c.2108A>T (p.Tyr703Phe) c.2102A>T (p.Tyr701Phe) c.2099A>T (p.Tyr700Phe) c.2159A>T (p.Tyr720Phe) c.2150A>T (p.Tyr717Phe) c.2069A>T (p.Tyr690Phe) c.2018A>T (p.Tyr673Phe) | |
14 | g.33800308C>A | CA389413465 | NPAS3 | c.2001C>A (p.Tyr667Ter) c.2010C>A (p.Tyr670Ter) c.1901C>A c.793+2727C>A c.1905C>A (p.Tyr635Ter) c.1962C>A (p.Tyr654Ter) c.1911C>A (p.Tyr637Ter) c.2016C>A (p.Tyr672Ter) c.1923C>A (p.Tyr641Ter) c.2022C>A (p.Tyr674Ter) c.2052C>A (p.Tyr684Ter) c.2043C>A (p.Tyr681Ter) c.2013C>A (p.Tyr671Ter) c.1956C>A (p.Tyr652Ter) c.1902C>A (p.Tyr634Ter) c.1695C>A (p.Tyr565Ter) c.2109C>A (p.Tyr703Ter) c.2103C>A (p.Tyr701Ter) c.2100C>A (p.Tyr700Ter) c.2160C>A (p.Tyr720Ter) c.2151C>A (p.Tyr717Ter) c.2070C>A (p.Tyr690Ter) c.2019C>A (p.Tyr673Ter) | |
14 | g.33800308C>G | CA389413467 | NPAS3 | c.2001C>G (p.Tyr667Ter) c.2010C>G (p.Tyr670Ter) c.1901C>G c.793+2727C>G c.1905C>G (p.Tyr635Ter) c.1962C>G (p.Tyr654Ter) c.1911C>G (p.Tyr637Ter) c.2016C>G (p.Tyr672Ter) c.1923C>G (p.Tyr641Ter) c.2022C>G (p.Tyr674Ter) c.2052C>G (p.Tyr684Ter) c.2043C>G (p.Tyr681Ter) c.2013C>G (p.Tyr671Ter) c.1956C>G (p.Tyr652Ter) c.1902C>G (p.Tyr634Ter) c.1695C>G (p.Tyr565Ter) c.2109C>G (p.Tyr703Ter) c.2103C>G (p.Tyr701Ter) c.2100C>G (p.Tyr700Ter) c.2160C>G (p.Tyr720Ter) c.2151C>G (p.Tyr717Ter) c.2070C>G (p.Tyr690Ter) c.2019C>G (p.Tyr673Ter) | |
14 | g.33800308C>T | CA486093009 | NPAS3 | c.2001C>T (p.Tyr667=) c.2010C>T (p.Tyr670=) c.1901C>T c.793+2727C>T c.1905C>T (p.Tyr635=) c.1962C>T (p.Tyr654=) c.1911C>T (p.Tyr637=) c.2016C>T (p.Tyr672=) c.1923C>T (p.Tyr641=) c.2022C>T (p.Tyr674=) c.2052C>T (p.Tyr684=) c.2043C>T (p.Tyr681=) c.2013C>T (p.Tyr671=) c.1956C>T (p.Tyr652=) c.1902C>T (p.Tyr634=) c.1695C>T (p.Tyr565=) c.2109C>T (p.Tyr703=) c.2103C>T (p.Tyr701=) c.2100C>T (p.Tyr700=) c.2160C>T (p.Tyr720=) c.2151C>T (p.Tyr717=) c.2070C>T (p.Tyr690=) c.2019C>T (p.Tyr673=) | |
14 | g.33800309C>A | CA389413470 | NPAS3 | c.2002C>A (p.Pro668Thr) c.2011C>A (p.Pro671Thr) c.1902C>A c.793+2728C>A c.1906C>A (p.Pro636Thr) c.1963C>A (p.Pro655Thr) c.1912C>A (p.Pro638Thr) c.2017C>A (p.Pro673Thr) c.1924C>A (p.Pro642Thr) c.2023C>A (p.Pro675Thr) c.2053C>A (p.Pro685Thr) c.2044C>A (p.Pro682Thr) c.2014C>A (p.Pro672Thr) c.1957C>A (p.Pro653Thr) c.1903C>A (p.Pro635Thr) c.1696C>A (p.Pro566Thr) c.2110C>A (p.Pro704Thr) c.2104C>A (p.Pro702Thr) c.2101C>A (p.Pro701Thr) c.2161C>A (p.Pro721Thr) c.2152C>A (p.Pro718Thr) c.2071C>A (p.Pro691Thr) c.2020C>A (p.Pro674Thr) | COSMIC COSMIC COSMIC |
14 | g.33800309C= | CA2128327235 | NPAS3 | c.2002C= (p.Pro668=) c.2011C= (p.Pro671=) c.1902C= c.793+2728C= c.1906C= (p.Pro636=) c.1963C= (p.Pro655=) c.1912C= (p.Pro638=) c.2017C= (p.Pro673=) c.1924C= (p.Pro642=) c.2023C= (p.Pro675=) c.2053C= (p.Pro685=) c.2044C= (p.Pro682=) c.2014C= (p.Pro672=) c.1957C= (p.Pro653=) c.1903C= (p.Pro635=) c.1696C= (p.Pro566=) c.2110C= (p.Pro704=) c.2104C= (p.Pro702=) c.2101C= (p.Pro701=) c.2161C= (p.Pro721=) c.2152C= (p.Pro718=) c.2071C= (p.Pro691=) c.2020C= (p.Pro674=) | |
14 | g.33800309C>G | CA389413471 | NPAS3 | c.2002C>G (p.Pro668Ala) c.2011C>G (p.Pro671Ala) c.1902C>G c.793+2728C>G c.1906C>G (p.Pro636Ala) c.1963C>G (p.Pro655Ala) c.1912C>G (p.Pro638Ala) c.2017C>G (p.Pro673Ala) c.1924C>G (p.Pro642Ala) c.2023C>G (p.Pro675Ala) c.2053C>G (p.Pro685Ala) c.2044C>G (p.Pro682Ala) c.2014C>G (p.Pro672Ala) c.1957C>G (p.Pro653Ala) c.1903C>G (p.Pro635Ala) c.1696C>G (p.Pro566Ala) c.2110C>G (p.Pro704Ala) c.2104C>G (p.Pro702Ala) c.2101C>G (p.Pro701Ala) c.2161C>G (p.Pro721Ala) c.2152C>G (p.Pro718Ala) c.2071C>G (p.Pro691Ala) c.2020C>G (p.Pro674Ala) | |
14 | g.33800309C>T | CA258718996 | NPAS3 | c.2002C>T (p.Pro668Ser) c.2011C>T (p.Pro671Ser) c.1902C>T c.793+2728C>T c.1906C>T (p.Pro636Ser) c.1963C>T (p.Pro655Ser) c.1912C>T (p.Pro638Ser) c.2017C>T (p.Pro673Ser) c.1924C>T (p.Pro642Ser) c.2023C>T (p.Pro675Ser) c.2053C>T (p.Pro685Ser) c.2044C>T (p.Pro682Ser) c.2014C>T (p.Pro672Ser) c.1957C>T (p.Pro653Ser) c.1903C>T (p.Pro635Ser) c.1696C>T (p.Pro566Ser) c.2110C>T (p.Pro704Ser) c.2104C>T (p.Pro702Ser) c.2101C>T (p.Pro701Ser) c.2161C>T (p.Pro721Ser) c.2152C>T (p.Pro718Ser) c.2071C>T (p.Pro691Ser) c.2020C>T (p.Pro674Ser) | dbSNP |
14 | g.33800310C>A | CA389413478 | NPAS3 | c.2003C>A (p.Pro668Gln) c.2012C>A (p.Pro671Gln) c.1903C>A c.793+2729C>A c.1907C>A (p.Pro636Gln) c.1964C>A (p.Pro655Gln) c.1913C>A (p.Pro638Gln) c.2018C>A (p.Pro673Gln) c.1925C>A (p.Pro642Gln) c.2024C>A (p.Pro675Gln) c.2054C>A (p.Pro685Gln) c.2045C>A (p.Pro682Gln) c.2015C>A (p.Pro672Gln) c.1958C>A (p.Pro653Gln) c.1904C>A (p.Pro635Gln) c.1697C>A (p.Pro566Gln) c.2111C>A (p.Pro704Gln) c.2105C>A (p.Pro702Gln) c.2102C>A (p.Pro701Gln) c.2162C>A (p.Pro721Gln) c.2153C>A (p.Pro718Gln) c.2072C>A (p.Pro691Gln) c.2021C>A (p.Pro674Gln) | gnomAD v4 |
14 | g.33800310C= | CA2128327238 | NPAS3 | c.2003C= (p.Pro668=) c.2012C= (p.Pro671=) c.1903C= c.793+2729C= c.1907C= (p.Pro636=) c.1964C= (p.Pro655=) c.1913C= (p.Pro638=) c.2018C= (p.Pro673=) c.1925C= (p.Pro642=) c.2024C= (p.Pro675=) c.2054C= (p.Pro685=) c.2045C= (p.Pro682=) c.2015C= (p.Pro672=) c.1958C= (p.Pro653=) c.1904C= (p.Pro635=) c.1697C= (p.Pro566=) c.2111C= (p.Pro704=) c.2105C= (p.Pro702=) c.2102C= (p.Pro701=) c.2162C= (p.Pro721=) c.2153C= (p.Pro718=) c.2072C= (p.Pro691=) c.2021C= (p.Pro674=) | |
14 | g.33800310C>G | CA389413480 | NPAS3 | c.2003C>G (p.Pro668Arg) c.2012C>G (p.Pro671Arg) c.1903C>G c.793+2729C>G c.1907C>G (p.Pro636Arg) c.1964C>G (p.Pro655Arg) c.1913C>G (p.Pro638Arg) c.2018C>G (p.Pro673Arg) c.1925C>G (p.Pro642Arg) c.2024C>G (p.Pro675Arg) c.2054C>G (p.Pro685Arg) c.2045C>G (p.Pro682Arg) c.2015C>G (p.Pro672Arg) c.1958C>G (p.Pro653Arg) c.1904C>G (p.Pro635Arg) c.1697C>G (p.Pro566Arg) c.2111C>G (p.Pro704Arg) c.2105C>G (p.Pro702Arg) c.2102C>G (p.Pro701Arg) c.2162C>G (p.Pro721Arg) c.2153C>G (p.Pro718Arg) c.2072C>G (p.Pro691Arg) c.2021C>G (p.Pro674Arg) | |
14 | g.33800310C>T | CA389413476 | NPAS3 | c.2003C>T (p.Pro668Leu) c.2012C>T (p.Pro671Leu) c.1903C>T c.793+2729C>T c.1907C>T (p.Pro636Leu) c.1964C>T (p.Pro655Leu) c.1913C>T (p.Pro638Leu) c.2018C>T (p.Pro673Leu) c.1925C>T (p.Pro642Leu) c.2024C>T (p.Pro675Leu) c.2054C>T (p.Pro685Leu) c.2045C>T (p.Pro682Leu) c.2015C>T (p.Pro672Leu) c.1958C>T (p.Pro653Leu) c.1904C>T (p.Pro635Leu) c.1697C>T (p.Pro566Leu) c.2111C>T (p.Pro704Leu) c.2105C>T (p.Pro702Leu) c.2102C>T (p.Pro701Leu) c.2162C>T (p.Pro721Leu) c.2153C>T (p.Pro718Leu) c.2072C>T (p.Pro691Leu) c.2021C>T (p.Pro674Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800311G>A | CA7150921 | NPAS3 | c.2004G>A (p.Pro668=) c.2013G>A (p.Pro671=) c.1904G>A c.793+2730G>A c.1908G>A (p.Pro636=) c.1965G>A (p.Pro655=) c.1914G>A (p.Pro638=) c.2019G>A (p.Pro673=) c.1926G>A (p.Pro642=) c.2025G>A (p.Pro675=) c.2055G>A (p.Pro685=) c.2046G>A (p.Pro682=) c.2016G>A (p.Pro672=) c.1959G>A (p.Pro653=) c.1905G>A (p.Pro635=) c.1698G>A (p.Pro566=) c.2112G>A (p.Pro704=) c.2106G>A (p.Pro702=) c.2103G>A (p.Pro701=) c.2163G>A (p.Pro721=) c.2154G>A (p.Pro718=) c.2073G>A (p.Pro691=) c.2022G>A (p.Pro674=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800311G>C | CA486093010 | NPAS3 | c.2004G>C (p.Pro668=) c.2013G>C (p.Pro671=) c.1904G>C c.793+2730G>C c.1908G>C (p.Pro636=) c.1965G>C (p.Pro655=) c.1914G>C (p.Pro638=) c.2019G>C (p.Pro673=) c.1926G>C (p.Pro642=) c.2025G>C (p.Pro675=) c.2055G>C (p.Pro685=) c.2046G>C (p.Pro682=) c.2016G>C (p.Pro672=) c.1959G>C (p.Pro653=) c.1905G>C (p.Pro635=) c.1698G>C (p.Pro566=) c.2112G>C (p.Pro704=) c.2106G>C (p.Pro702=) c.2103G>C (p.Pro701=) c.2163G>C (p.Pro721=) c.2154G>C (p.Pro718=) c.2073G>C (p.Pro691=) c.2022G>C (p.Pro674=) | dbSNP |
14 | g.33800311G= | CA2128327241 | NPAS3 | c.2004G= (p.Pro668=) c.2013G= (p.Pro671=) c.1904G= c.793+2730G= c.1908G= (p.Pro636=) c.1965G= (p.Pro655=) c.1914G= (p.Pro638=) c.2019G= (p.Pro673=) c.1926G= (p.Pro642=) c.2025G= (p.Pro675=) c.2055G= (p.Pro685=) c.2046G= (p.Pro682=) c.2016G= (p.Pro672=) c.1959G= (p.Pro653=) c.1905G= (p.Pro635=) c.1698G= (p.Pro566=) c.2112G= (p.Pro704=) c.2106G= (p.Pro702=) c.2103G= (p.Pro701=) c.2163G= (p.Pro721=) c.2154G= (p.Pro718=) c.2073G= (p.Pro691=) c.2022G= (p.Pro674=) | |
14 | g.33800311G>T | CA486093011 | NPAS3 | c.2004G>T (p.Pro668=) c.2013G>T (p.Pro671=) c.1904G>T c.793+2730G>T c.1908G>T (p.Pro636=) c.1965G>T (p.Pro655=) c.1914G>T (p.Pro638=) c.2019G>T (p.Pro673=) c.1926G>T (p.Pro642=) c.2025G>T (p.Pro675=) c.2055G>T (p.Pro685=) c.2046G>T (p.Pro682=) c.2016G>T (p.Pro672=) c.1959G>T (p.Pro653=) c.1905G>T (p.Pro635=) c.1698G>T (p.Pro566=) c.2112G>T (p.Pro704=) c.2106G>T (p.Pro702=) c.2103G>T (p.Pro701=) c.2163G>T (p.Pro721=) c.2154G>T (p.Pro718=) c.2073G>T (p.Pro691=) c.2022G>T (p.Pro674=) | gnomAD v4 |
14 | g.33800312C>A | CA389413484 | NPAS3 | c.2005C>A (p.Pro669Thr) c.2014C>A (p.Pro672Thr) c.1905C>A c.793+2731C>A c.1909C>A (p.Pro637Thr) c.1966C>A (p.Pro656Thr) c.1915C>A (p.Pro639Thr) c.2020C>A (p.Pro674Thr) c.1927C>A (p.Pro643Thr) c.2026C>A (p.Pro676Thr) c.2056C>A (p.Pro686Thr) c.2047C>A (p.Pro683Thr) c.2017C>A (p.Pro673Thr) c.1960C>A (p.Pro654Thr) c.1906C>A (p.Pro636Thr) c.1699C>A (p.Pro567Thr) c.2113C>A (p.Pro705Thr) c.2107C>A (p.Pro703Thr) c.2104C>A (p.Pro702Thr) c.2164C>A (p.Pro722Thr) c.2155C>A (p.Pro719Thr) c.2074C>A (p.Pro692Thr) c.2023C>A (p.Pro675Thr) | |
14 | g.33800312C>G | CA389413485 | NPAS3 | c.2005C>G (p.Pro669Ala) c.2014C>G (p.Pro672Ala) c.1905C>G c.793+2731C>G c.1909C>G (p.Pro637Ala) c.1966C>G (p.Pro656Ala) c.1915C>G (p.Pro639Ala) c.2020C>G (p.Pro674Ala) c.1927C>G (p.Pro643Ala) c.2026C>G (p.Pro676Ala) c.2056C>G (p.Pro686Ala) c.2047C>G (p.Pro683Ala) c.2017C>G (p.Pro673Ala) c.1960C>G (p.Pro654Ala) c.1906C>G (p.Pro636Ala) c.1699C>G (p.Pro567Ala) c.2113C>G (p.Pro705Ala) c.2107C>G (p.Pro703Ala) c.2104C>G (p.Pro702Ala) c.2164C>G (p.Pro722Ala) c.2155C>G (p.Pro719Ala) c.2074C>G (p.Pro692Ala) c.2023C>G (p.Pro675Ala) | |
14 | g.33800312C>T | CA389413487 | NPAS3 | c.2005C>T (p.Pro669Ser) c.2014C>T (p.Pro672Ser) c.1905C>T c.793+2731C>T c.1909C>T (p.Pro637Ser) c.1966C>T (p.Pro656Ser) c.1915C>T (p.Pro639Ser) c.2020C>T (p.Pro674Ser) c.1927C>T (p.Pro643Ser) c.2026C>T (p.Pro676Ser) c.2056C>T (p.Pro686Ser) c.2047C>T (p.Pro683Ser) c.2017C>T (p.Pro673Ser) c.1960C>T (p.Pro654Ser) c.1906C>T (p.Pro636Ser) c.1699C>T (p.Pro567Ser) c.2113C>T (p.Pro705Ser) c.2107C>T (p.Pro703Ser) c.2104C>T (p.Pro702Ser) c.2164C>T (p.Pro722Ser) c.2155C>T (p.Pro719Ser) c.2074C>T (p.Pro692Ser) c.2023C>T (p.Pro675Ser) | COSMIC COSMIC COSMIC |
14 | g.33800313C>A | CA389413489 | NPAS3 | c.2006C>A (p.Pro669His) c.2015C>A (p.Pro672His) c.1906C>A c.793+2732C>A c.1910C>A (p.Pro637His) c.1967C>A (p.Pro656His) c.1916C>A (p.Pro639His) c.2021C>A (p.Pro674His) c.1928C>A (p.Pro643His) c.2027C>A (p.Pro676His) c.2057C>A (p.Pro686His) c.2048C>A (p.Pro683His) c.2018C>A (p.Pro673His) c.1961C>A (p.Pro654His) c.1907C>A (p.Pro636His) c.1700C>A (p.Pro567His) c.2114C>A (p.Pro705His) c.2108C>A (p.Pro703His) c.2105C>A (p.Pro702His) c.2165C>A (p.Pro722His) c.2156C>A (p.Pro719His) c.2075C>A (p.Pro692His) c.2024C>A (p.Pro675His) | gnomAD v4 |
14 | g.33800313C>G | CA389413491 | NPAS3 | c.2006C>G (p.Pro669Arg) c.2015C>G (p.Pro672Arg) c.1906C>G c.793+2732C>G c.1910C>G (p.Pro637Arg) c.1967C>G (p.Pro656Arg) c.1916C>G (p.Pro639Arg) c.2021C>G (p.Pro674Arg) c.1928C>G (p.Pro643Arg) c.2027C>G (p.Pro676Arg) c.2057C>G (p.Pro686Arg) c.2048C>G (p.Pro683Arg) c.2018C>G (p.Pro673Arg) c.1961C>G (p.Pro654Arg) c.1907C>G (p.Pro636Arg) c.1700C>G (p.Pro567Arg) c.2114C>G (p.Pro705Arg) c.2108C>G (p.Pro703Arg) c.2105C>G (p.Pro702Arg) c.2165C>G (p.Pro722Arg) c.2156C>G (p.Pro719Arg) c.2075C>G (p.Pro692Arg) c.2024C>G (p.Pro675Arg) | |
14 | g.33800313C>T | CA389413493 | NPAS3 | c.2006C>T (p.Pro669Leu) c.2015C>T (p.Pro672Leu) c.1906C>T c.793+2732C>T c.1910C>T (p.Pro637Leu) c.1967C>T (p.Pro656Leu) c.1916C>T (p.Pro639Leu) c.2021C>T (p.Pro674Leu) c.1928C>T (p.Pro643Leu) c.2027C>T (p.Pro676Leu) c.2057C>T (p.Pro686Leu) c.2048C>T (p.Pro683Leu) c.2018C>T (p.Pro673Leu) c.1961C>T (p.Pro654Leu) c.1907C>T (p.Pro636Leu) c.1700C>T (p.Pro567Leu) c.2114C>T (p.Pro705Leu) c.2108C>T (p.Pro703Leu) c.2105C>T (p.Pro702Leu) c.2165C>T (p.Pro722Leu) c.2156C>T (p.Pro719Leu) c.2075C>T (p.Pro692Leu) c.2024C>T (p.Pro675Leu) | |
14 | g.33800314C>A | CA486093012 | NPAS3 | c.2007C>A (p.Pro669=) c.2016C>A (p.Pro672=) c.1907C>A c.793+2733C>A c.1911C>A (p.Pro637=) c.1968C>A (p.Pro656=) c.1917C>A (p.Pro639=) c.2022C>A (p.Pro674=) c.1929C>A (p.Pro643=) c.2028C>A (p.Pro676=) c.2058C>A (p.Pro686=) c.2049C>A (p.Pro683=) c.2019C>A (p.Pro673=) c.1962C>A (p.Pro654=) c.1908C>A (p.Pro636=) c.1701C>A (p.Pro567=) c.2115C>A (p.Pro705=) c.2109C>A (p.Pro703=) c.2106C>A (p.Pro702=) c.2166C>A (p.Pro722=) c.2157C>A (p.Pro719=) c.2076C>A (p.Pro692=) c.2025C>A (p.Pro675=) | |
14 | g.33800314C>G | CA486093013 | NPAS3 | c.2007C>G (p.Pro669=) c.2016C>G (p.Pro672=) c.1907C>G c.793+2733C>G c.1911C>G (p.Pro637=) c.1968C>G (p.Pro656=) c.1917C>G (p.Pro639=) c.2022C>G (p.Pro674=) c.1929C>G (p.Pro643=) c.2028C>G (p.Pro676=) c.2058C>G (p.Pro686=) c.2049C>G (p.Pro683=) c.2019C>G (p.Pro673=) c.1962C>G (p.Pro654=) c.1908C>G (p.Pro636=) c.1701C>G (p.Pro567=) c.2115C>G (p.Pro705=) c.2109C>G (p.Pro703=) c.2106C>G (p.Pro702=) c.2166C>G (p.Pro722=) c.2157C>G (p.Pro719=) c.2076C>G (p.Pro692=) c.2025C>G (p.Pro675=) | |
14 | g.33800314C>T | CA486093014 | NPAS3 | c.2007C>T (p.Pro669=) c.2016C>T (p.Pro672=) c.1907C>T c.793+2733C>T c.1911C>T (p.Pro637=) c.1968C>T (p.Pro656=) c.1917C>T (p.Pro639=) c.2022C>T (p.Pro674=) c.1929C>T (p.Pro643=) c.2028C>T (p.Pro676=) c.2058C>T (p.Pro686=) c.2049C>T (p.Pro683=) c.2019C>T (p.Pro673=) c.1962C>T (p.Pro654=) c.1908C>T (p.Pro636=) c.1701C>T (p.Pro567=) c.2115C>T (p.Pro705=) c.2109C>T (p.Pro703=) c.2106C>T (p.Pro702=) c.2166C>T (p.Pro722=) c.2157C>T (p.Pro719=) c.2076C>T (p.Pro692=) c.2025C>T (p.Pro675=) | dbSNP |
14 | g.33800315A>C | CA389413495 | NPAS3 | c.2008A>C (p.Asn670His) c.2017A>C (p.Asn673His) c.1908A>C c.793+2734A>C c.1912A>C (p.Asn638His) c.1969A>C (p.Asn657His) c.1918A>C (p.Asn640His) c.2023A>C (p.Asn675His) c.1930A>C (p.Asn644His) c.2029A>C (p.Asn677His) c.2059A>C (p.Asn687His) c.2050A>C (p.Asn684His) c.2020A>C (p.Asn674His) c.1963A>C (p.Asn655His) c.1909A>C (p.Asn637His) c.1702A>C (p.Asn568His) c.2116A>C (p.Asn706His) c.2110A>C (p.Asn704His) c.2107A>C (p.Asn703His) c.2167A>C (p.Asn723His) c.2158A>C (p.Asn720His) c.2077A>C (p.Asn693His) c.2026A>C (p.Asn676His) | |
14 | g.33800315A>G | CA389413496 | NPAS3 | c.2008A>G (p.Asn670Asp) c.2017A>G (p.Asn673Asp) c.1908A>G c.793+2734A>G c.1912A>G (p.Asn638Asp) c.1969A>G (p.Asn657Asp) c.1918A>G (p.Asn640Asp) c.2023A>G (p.Asn675Asp) c.1930A>G (p.Asn644Asp) c.2029A>G (p.Asn677Asp) c.2059A>G (p.Asn687Asp) c.2050A>G (p.Asn684Asp) c.2020A>G (p.Asn674Asp) c.1963A>G (p.Asn655Asp) c.1909A>G (p.Asn637Asp) c.1702A>G (p.Asn568Asp) c.2116A>G (p.Asn706Asp) c.2110A>G (p.Asn704Asp) c.2107A>G (p.Asn703Asp) c.2167A>G (p.Asn723Asp) c.2158A>G (p.Asn720Asp) c.2077A>G (p.Asn693Asp) c.2026A>G (p.Asn676Asp) | |
14 | g.33800315A>T | CA389413497 | NPAS3 | c.2008A>T (p.Asn670Tyr) c.2017A>T (p.Asn673Tyr) c.1908A>T c.793+2734A>T c.1912A>T (p.Asn638Tyr) c.1969A>T (p.Asn657Tyr) c.1918A>T (p.Asn640Tyr) c.2023A>T (p.Asn675Tyr) c.1930A>T (p.Asn644Tyr) c.2029A>T (p.Asn677Tyr) c.2059A>T (p.Asn687Tyr) c.2050A>T (p.Asn684Tyr) c.2020A>T (p.Asn674Tyr) c.1963A>T (p.Asn655Tyr) c.1909A>T (p.Asn637Tyr) c.1702A>T (p.Asn568Tyr) c.2116A>T (p.Asn706Tyr) c.2110A>T (p.Asn704Tyr) c.2107A>T (p.Asn703Tyr) c.2167A>T (p.Asn723Tyr) c.2158A>T (p.Asn720Tyr) c.2077A>T (p.Asn693Tyr) c.2026A>T (p.Asn676Tyr) | |
14 | g.33800316A>C | CA389413499 | NPAS3 | c.2009A>C (p.Asn670Thr) c.2018A>C (p.Asn673Thr) c.1909A>C c.793+2735A>C c.1913A>C (p.Asn638Thr) c.1970A>C (p.Asn657Thr) c.1919A>C (p.Asn640Thr) c.2024A>C (p.Asn675Thr) c.1931A>C (p.Asn644Thr) c.2030A>C (p.Asn677Thr) c.2060A>C (p.Asn687Thr) c.2051A>C (p.Asn684Thr) c.2021A>C (p.Asn674Thr) c.1964A>C (p.Asn655Thr) c.1910A>C (p.Asn637Thr) c.1703A>C (p.Asn568Thr) c.2117A>C (p.Asn706Thr) c.2111A>C (p.Asn704Thr) c.2108A>C (p.Asn703Thr) c.2168A>C (p.Asn723Thr) c.2159A>C (p.Asn720Thr) c.2078A>C (p.Asn693Thr) c.2027A>C (p.Asn676Thr) | |
14 | g.33800316A>G | CA389413501 | NPAS3 | c.2009A>G (p.Asn670Ser) c.2018A>G (p.Asn673Ser) c.1909A>G c.793+2735A>G c.1913A>G (p.Asn638Ser) c.1970A>G (p.Asn657Ser) c.1919A>G (p.Asn640Ser) c.2024A>G (p.Asn675Ser) c.1931A>G (p.Asn644Ser) c.2030A>G (p.Asn677Ser) c.2060A>G (p.Asn687Ser) c.2051A>G (p.Asn684Ser) c.2021A>G (p.Asn674Ser) c.1964A>G (p.Asn655Ser) c.1910A>G (p.Asn637Ser) c.1703A>G (p.Asn568Ser) c.2117A>G (p.Asn706Ser) c.2111A>G (p.Asn704Ser) c.2108A>G (p.Asn703Ser) c.2168A>G (p.Asn723Ser) c.2159A>G (p.Asn720Ser) c.2078A>G (p.Asn693Ser) c.2027A>G (p.Asn676Ser) | |
14 | g.33800316A>T | CA389413503 | NPAS3 | c.2009A>T (p.Asn670Ile) c.2018A>T (p.Asn673Ile) c.1909A>T c.793+2735A>T c.1913A>T (p.Asn638Ile) c.1970A>T (p.Asn657Ile) c.1919A>T (p.Asn640Ile) c.2024A>T (p.Asn675Ile) c.1931A>T (p.Asn644Ile) c.2030A>T (p.Asn677Ile) c.2060A>T (p.Asn687Ile) c.2051A>T (p.Asn684Ile) c.2021A>T (p.Asn674Ile) c.1964A>T (p.Asn655Ile) c.1910A>T (p.Asn637Ile) c.1703A>T (p.Asn568Ile) c.2117A>T (p.Asn706Ile) c.2111A>T (p.Asn704Ile) c.2108A>T (p.Asn703Ile) c.2168A>T (p.Asn723Ile) c.2159A>T (p.Asn720Ile) c.2078A>T (p.Asn693Ile) c.2027A>T (p.Asn676Ile) | |
14 | g.33800317C>A | CA389413505 | NPAS3 | c.2010C>A (p.Asn670Lys) c.2019C>A (p.Asn673Lys) c.1910C>A c.793+2736C>A c.1914C>A (p.Asn638Lys) c.1971C>A (p.Asn657Lys) c.1920C>A (p.Asn640Lys) c.2025C>A (p.Asn675Lys) c.1932C>A (p.Asn644Lys) c.2031C>A (p.Asn677Lys) c.2061C>A (p.Asn687Lys) c.2052C>A (p.Asn684Lys) c.2022C>A (p.Asn674Lys) c.1965C>A (p.Asn655Lys) c.1911C>A (p.Asn637Lys) c.1704C>A (p.Asn568Lys) c.2118C>A (p.Asn706Lys) c.2112C>A (p.Asn704Lys) c.2109C>A (p.Asn703Lys) c.2169C>A (p.Asn723Lys) c.2160C>A (p.Asn720Lys) c.2079C>A (p.Asn693Lys) c.2028C>A (p.Asn676Lys) | dbSNP gnomAD v2 |
14 | g.33800317C= | CA2128327245 | NPAS3 | c.2010C= (p.Asn670=) c.2019C= (p.Asn673=) c.1910C= c.793+2736C= c.1914C= (p.Asn638=) c.1971C= (p.Asn657=) c.1920C= (p.Asn640=) c.2025C= (p.Asn675=) c.1932C= (p.Asn644=) c.2031C= (p.Asn677=) c.2061C= (p.Asn687=) c.2052C= (p.Asn684=) c.2022C= (p.Asn674=) c.1965C= (p.Asn655=) c.1911C= (p.Asn637=) c.1704C= (p.Asn568=) c.2118C= (p.Asn706=) c.2112C= (p.Asn704=) c.2109C= (p.Asn703=) c.2169C= (p.Asn723=) c.2160C= (p.Asn720=) c.2079C= (p.Asn693=) c.2028C= (p.Asn676=) | |
14 | g.33800317C>G | CA389413507 | NPAS3 | c.2010C>G (p.Asn670Lys) c.2019C>G (p.Asn673Lys) c.1910C>G c.793+2736C>G c.1914C>G (p.Asn638Lys) c.1971C>G (p.Asn657Lys) c.1920C>G (p.Asn640Lys) c.2025C>G (p.Asn675Lys) c.1932C>G (p.Asn644Lys) c.2031C>G (p.Asn677Lys) c.2061C>G (p.Asn687Lys) c.2052C>G (p.Asn684Lys) c.2022C>G (p.Asn674Lys) c.1965C>G (p.Asn655Lys) c.1911C>G (p.Asn637Lys) c.1704C>G (p.Asn568Lys) c.2118C>G (p.Asn706Lys) c.2112C>G (p.Asn704Lys) c.2109C>G (p.Asn703Lys) c.2169C>G (p.Asn723Lys) c.2160C>G (p.Asn720Lys) c.2079C>G (p.Asn693Lys) c.2028C>G (p.Asn676Lys) | |
14 | g.33800317C>T | CA486093015 | NPAS3 | c.2010C>T (p.Asn670=) c.2019C>T (p.Asn673=) c.1910C>T c.793+2736C>T c.1914C>T (p.Asn638=) c.1971C>T (p.Asn657=) c.1920C>T (p.Asn640=) c.2025C>T (p.Asn675=) c.1932C>T (p.Asn644=) c.2031C>T (p.Asn677=) c.2061C>T (p.Asn687=) c.2052C>T (p.Asn684=) c.2022C>T (p.Asn674=) c.1965C>T (p.Asn655=) c.1911C>T (p.Asn637=) c.1704C>T (p.Asn568=) c.2118C>T (p.Asn706=) c.2112C>T (p.Asn704=) c.2109C>T (p.Asn703=) c.2169C>T (p.Asn723=) c.2160C>T (p.Asn720=) c.2079C>T (p.Asn693=) c.2028C>T (p.Asn676=) | |
14 | g.33800318C>A | CA486093016 | NPAS3 | c.2011C>A (p.Arg671=) c.2020C>A (p.Arg674=) c.1911C>A c.793+2737C>A c.1915C>A (p.Arg639=) c.1972C>A (p.Arg658=) c.1921C>A (p.Arg641=) c.2026C>A (p.Arg676=) c.1933C>A (p.Arg645=) c.2032C>A (p.Arg678=) c.2062C>A (p.Arg688=) c.2053C>A (p.Arg685=) c.2023C>A (p.Arg675=) c.1966C>A (p.Arg656=) c.1912C>A (p.Arg638=) c.1705C>A (p.Arg569=) c.2119C>A (p.Arg707=) c.2113C>A (p.Arg705=) c.2110C>A (p.Arg704=) c.2170C>A (p.Arg724=) c.2161C>A (p.Arg721=) c.2080C>A (p.Arg694=) c.2029C>A (p.Arg677=) | gnomAD v4 |
14 | g.33800318C= | CA2128327247 | NPAS3 | c.2011C= (p.Arg671=) c.2020C= (p.Arg674=) c.1911C= c.793+2737C= c.1915C= (p.Arg639=) c.1972C= (p.Arg658=) c.1921C= (p.Arg641=) c.2026C= (p.Arg676=) c.1933C= (p.Arg645=) c.2032C= (p.Arg678=) c.2062C= (p.Arg688=) c.2053C= (p.Arg685=) c.2023C= (p.Arg675=) c.1966C= (p.Arg656=) c.1912C= (p.Arg638=) c.1705C= (p.Arg569=) c.2119C= (p.Arg707=) c.2113C= (p.Arg705=) c.2110C= (p.Arg704=) c.2170C= (p.Arg724=) c.2161C= (p.Arg721=) c.2080C= (p.Arg694=) c.2029C= (p.Arg677=) | |
14 | g.33800318C>G | CA389413508 | NPAS3 | c.2011C>G (p.Arg671Gly) c.2020C>G (p.Arg674Gly) c.1911C>G c.793+2737C>G c.1915C>G (p.Arg639Gly) c.1972C>G (p.Arg658Gly) c.1921C>G (p.Arg641Gly) c.2026C>G (p.Arg676Gly) c.1933C>G (p.Arg645Gly) c.2032C>G (p.Arg678Gly) c.2062C>G (p.Arg688Gly) c.2053C>G (p.Arg685Gly) c.2023C>G (p.Arg675Gly) c.1966C>G (p.Arg656Gly) c.1912C>G (p.Arg638Gly) c.1705C>G (p.Arg569Gly) c.2119C>G (p.Arg707Gly) c.2113C>G (p.Arg705Gly) c.2110C>G (p.Arg704Gly) c.2170C>G (p.Arg724Gly) c.2161C>G (p.Arg721Gly) c.2080C>G (p.Arg694Gly) c.2029C>G (p.Arg677Gly) | gnomAD v4 |
14 | g.33800318C>T | CA389413509 | NPAS3 | c.2011C>T (p.Arg671Trp) c.2020C>T (p.Arg674Trp) c.1911C>T c.793+2737C>T c.1915C>T (p.Arg639Trp) c.1972C>T (p.Arg658Trp) c.1921C>T (p.Arg641Trp) c.2026C>T (p.Arg676Trp) c.1933C>T (p.Arg645Trp) c.2032C>T (p.Arg678Trp) c.2062C>T (p.Arg688Trp) c.2053C>T (p.Arg685Trp) c.2023C>T (p.Arg675Trp) c.1966C>T (p.Arg656Trp) c.1912C>T (p.Arg638Trp) c.1705C>T (p.Arg569Trp) c.2119C>T (p.Arg707Trp) c.2113C>T (p.Arg705Trp) c.2110C>T (p.Arg704Trp) c.2170C>T (p.Arg724Trp) c.2161C>T (p.Arg721Trp) c.2080C>T (p.Arg694Trp) c.2029C>T (p.Arg677Trp) | dbSNP gnomAD v4 |
14 | g.33800319G>A | CA7150922 | NPAS3 | c.2012G>A (p.Arg671Gln) c.2021G>A (p.Arg674Gln) c.1912G>A c.793+2738G>A c.1916G>A (p.Arg639Gln) c.1973G>A (p.Arg658Gln) c.1922G>A (p.Arg641Gln) c.2027G>A (p.Arg676Gln) c.1934G>A (p.Arg645Gln) c.2033G>A (p.Arg678Gln) c.2063G>A (p.Arg688Gln) c.2054G>A (p.Arg685Gln) c.2024G>A (p.Arg675Gln) c.1967G>A (p.Arg656Gln) c.1913G>A (p.Arg638Gln) c.1706G>A (p.Arg569Gln) c.2120G>A (p.Arg707Gln) c.2114G>A (p.Arg705Gln) c.2111G>A (p.Arg704Gln) c.2171G>A (p.Arg724Gln) c.2162G>A (p.Arg721Gln) c.2081G>A (p.Arg694Gln) c.2030G>A (p.Arg677Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800319G>C | CA389413512 | NPAS3 | c.2012G>C (p.Arg671Pro) c.2021G>C (p.Arg674Pro) c.1912G>C c.793+2738G>C c.1916G>C (p.Arg639Pro) c.1973G>C (p.Arg658Pro) c.1922G>C (p.Arg641Pro) c.2027G>C (p.Arg676Pro) c.1934G>C (p.Arg645Pro) c.2033G>C (p.Arg678Pro) c.2063G>C (p.Arg688Pro) c.2054G>C (p.Arg685Pro) c.2024G>C (p.Arg675Pro) c.1967G>C (p.Arg656Pro) c.1913G>C (p.Arg638Pro) c.1706G>C (p.Arg569Pro) c.2120G>C (p.Arg707Pro) c.2114G>C (p.Arg705Pro) c.2111G>C (p.Arg704Pro) c.2171G>C (p.Arg724Pro) c.2162G>C (p.Arg721Pro) c.2081G>C (p.Arg694Pro) c.2030G>C (p.Arg677Pro) | |
14 | g.33800319G= | CA2128327249 | NPAS3 | c.2012G= (p.Arg671=) c.2021G= (p.Arg674=) c.1912G= c.793+2738G= c.1916G= (p.Arg639=) c.1973G= (p.Arg658=) c.1922G= (p.Arg641=) c.2027G= (p.Arg676=) c.1934G= (p.Arg645=) c.2033G= (p.Arg678=) c.2063G= (p.Arg688=) c.2054G= (p.Arg685=) c.2024G= (p.Arg675=) c.1967G= (p.Arg656=) c.1913G= (p.Arg638=) c.1706G= (p.Arg569=) c.2120G= (p.Arg707=) c.2114G= (p.Arg705=) c.2111G= (p.Arg704=) c.2171G= (p.Arg724=) c.2162G= (p.Arg721=) c.2081G= (p.Arg694=) c.2030G= (p.Arg677=) | |
14 | g.33800319G>T | CA389413513 | NPAS3 | c.2012G>T (p.Arg671Leu) c.2021G>T (p.Arg674Leu) c.1912G>T c.793+2738G>T c.1916G>T (p.Arg639Leu) c.1973G>T (p.Arg658Leu) c.1922G>T (p.Arg641Leu) c.2027G>T (p.Arg676Leu) c.1934G>T (p.Arg645Leu) c.2033G>T (p.Arg678Leu) c.2063G>T (p.Arg688Leu) c.2054G>T (p.Arg685Leu) c.2024G>T (p.Arg675Leu) c.1967G>T (p.Arg656Leu) c.1913G>T (p.Arg638Leu) c.1706G>T (p.Arg569Leu) c.2120G>T (p.Arg707Leu) c.2114G>T (p.Arg705Leu) c.2111G>T (p.Arg704Leu) c.2171G>T (p.Arg724Leu) c.2162G>T (p.Arg721Leu) c.2081G>T (p.Arg694Leu) c.2030G>T (p.Arg677Leu) | |
14 | g.33800320G>A | CA486093017 | NPAS3 | c.2013G>A (p.Arg671=) c.2022G>A (p.Arg674=) c.1913G>A c.793+2739G>A c.1917G>A (p.Arg639=) c.1974G>A (p.Arg658=) c.1923G>A (p.Arg641=) c.2028G>A (p.Arg676=) c.1935G>A (p.Arg645=) c.2034G>A (p.Arg678=) c.2064G>A (p.Arg688=) c.2055G>A (p.Arg685=) c.2025G>A (p.Arg675=) c.1968G>A (p.Arg656=) c.1914G>A (p.Arg638=) c.1707G>A (p.Arg569=) c.2121G>A (p.Arg707=) c.2115G>A (p.Arg705=) c.2112G>A (p.Arg704=) c.2172G>A (p.Arg724=) c.2163G>A (p.Arg721=) c.2082G>A (p.Arg694=) c.2031G>A (p.Arg677=) | COSMIC COSMIC COSMIC |
14 | g.33800320G>C | CA486093018 | NPAS3 | c.2013G>C (p.Arg671=) c.2022G>C (p.Arg674=) c.1913G>C c.793+2739G>C c.1917G>C (p.Arg639=) c.1974G>C (p.Arg658=) c.1923G>C (p.Arg641=) c.2028G>C (p.Arg676=) c.1935G>C (p.Arg645=) c.2034G>C (p.Arg678=) c.2064G>C (p.Arg688=) c.2055G>C (p.Arg685=) c.2025G>C (p.Arg675=) c.1968G>C (p.Arg656=) c.1914G>C (p.Arg638=) c.1707G>C (p.Arg569=) c.2121G>C (p.Arg707=) c.2115G>C (p.Arg705=) c.2112G>C (p.Arg704=) c.2172G>C (p.Arg724=) c.2163G>C (p.Arg721=) c.2082G>C (p.Arg694=) c.2031G>C (p.Arg677=) | |
14 | g.33800320G>T | CA486093019 | NPAS3 | c.2013G>T (p.Arg671=) c.2022G>T (p.Arg674=) c.1913G>T c.793+2739G>T c.1917G>T (p.Arg639=) c.1974G>T (p.Arg658=) c.1923G>T (p.Arg641=) c.2028G>T (p.Arg676=) c.1935G>T (p.Arg645=) c.2034G>T (p.Arg678=) c.2064G>T (p.Arg688=) c.2055G>T (p.Arg685=) c.2025G>T (p.Arg675=) c.1968G>T (p.Arg656=) c.1914G>T (p.Arg638=) c.1707G>T (p.Arg569=) c.2121G>T (p.Arg707=) c.2115G>T (p.Arg705=) c.2112G>T (p.Arg704=) c.2172G>T (p.Arg724=) c.2163G>T (p.Arg721=) c.2082G>T (p.Arg694=) c.2031G>T (p.Arg677=) | |
14 | g.33800321G>A | CA7150923 | NPAS3 | c.2014G>A (p.Glu672Lys) c.2023G>A (p.Glu675Lys) c.1914G>A c.793+2740G>A c.1918G>A (p.Glu640Lys) c.1975G>A (p.Glu659Lys) c.1924G>A (p.Glu642Lys) c.2029G>A (p.Glu677Lys) c.1936G>A (p.Glu646Lys) c.2035G>A (p.Glu679Lys) c.2065G>A (p.Glu689Lys) c.2056G>A (p.Glu686Lys) c.2026G>A (p.Glu676Lys) c.1969G>A (p.Glu657Lys) c.1915G>A (p.Glu639Lys) c.1708G>A (p.Glu570Lys) c.2122G>A (p.Glu708Lys) c.2116G>A (p.Glu706Lys) c.2113G>A (p.Glu705Lys) c.2173G>A (p.Glu725Lys) c.2164G>A (p.Glu722Lys) c.2083G>A (p.Glu695Lys) c.2032G>A (p.Glu678Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800321G>C | CA389413517 | NPAS3 | c.2014G>C (p.Glu672Gln) c.2023G>C (p.Glu675Gln) c.1914G>C c.793+2740G>C c.1918G>C (p.Glu640Gln) c.1975G>C (p.Glu659Gln) c.1924G>C (p.Glu642Gln) c.2029G>C (p.Glu677Gln) c.1936G>C (p.Glu646Gln) c.2035G>C (p.Glu679Gln) c.2065G>C (p.Glu689Gln) c.2056G>C (p.Glu686Gln) c.2026G>C (p.Glu676Gln) c.1969G>C (p.Glu657Gln) c.1915G>C (p.Glu639Gln) c.1708G>C (p.Glu570Gln) c.2122G>C (p.Glu708Gln) c.2116G>C (p.Glu706Gln) c.2113G>C (p.Glu705Gln) c.2173G>C (p.Glu725Gln) c.2164G>C (p.Glu722Gln) c.2083G>C (p.Glu695Gln) c.2032G>C (p.Glu678Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.33800321G= | CA2128327255 | NPAS3 | c.2014G= (p.Glu672=) c.2023G= (p.Glu675=) c.1914G= c.793+2740G= c.1918G= (p.Glu640=) c.1975G= (p.Glu659=) c.1924G= (p.Glu642=) c.2029G= (p.Glu677=) c.1936G= (p.Glu646=) c.2035G= (p.Glu679=) c.2065G= (p.Glu689=) c.2056G= (p.Glu686=) c.2026G= (p.Glu676=) c.1969G= (p.Glu657=) c.1915G= (p.Glu639=) c.1708G= (p.Glu570=) c.2122G= (p.Glu708=) c.2116G= (p.Glu706=) c.2113G= (p.Glu705=) c.2173G= (p.Glu725=) c.2164G= (p.Glu722=) c.2083G= (p.Glu695=) c.2032G= (p.Glu678=) | |
14 | g.33800321G>T | CA389413518 | NPAS3 | c.2014G>T (p.Glu672Ter) c.2023G>T (p.Glu675Ter) c.1914G>T c.793+2740G>T c.1918G>T (p.Glu640Ter) c.1975G>T (p.Glu659Ter) c.1924G>T (p.Glu642Ter) c.2029G>T (p.Glu677Ter) c.1936G>T (p.Glu646Ter) c.2035G>T (p.Glu679Ter) c.2065G>T (p.Glu689Ter) c.2056G>T (p.Glu686Ter) c.2026G>T (p.Glu676Ter) c.1969G>T (p.Glu657Ter) c.1915G>T (p.Glu639Ter) c.1708G>T (p.Glu570Ter) c.2122G>T (p.Glu708Ter) c.2116G>T (p.Glu706Ter) c.2113G>T (p.Glu705Ter) c.2173G>T (p.Glu725Ter) c.2164G>T (p.Glu722Ter) c.2083G>T (p.Glu695Ter) c.2032G>T (p.Glu678Ter) | gnomAD v4 |
14 | g.33800322A>C | CA389413521 | NPAS3 | c.2015A>C (p.Glu672Ala) c.2024A>C (p.Glu675Ala) c.1915A>C c.793+2741A>C c.1919A>C (p.Glu640Ala) c.1976A>C (p.Glu659Ala) c.1925A>C (p.Glu642Ala) c.2030A>C (p.Glu677Ala) c.1937A>C (p.Glu646Ala) c.2036A>C (p.Glu679Ala) c.2066A>C (p.Glu689Ala) c.2057A>C (p.Glu686Ala) c.2027A>C (p.Glu676Ala) c.1970A>C (p.Glu657Ala) c.1916A>C (p.Glu639Ala) c.1709A>C (p.Glu570Ala) c.2123A>C (p.Glu708Ala) c.2117A>C (p.Glu706Ala) c.2114A>C (p.Glu705Ala) c.2174A>C (p.Glu725Ala) c.2165A>C (p.Glu722Ala) c.2084A>C (p.Glu695Ala) c.2033A>C (p.Glu678Ala) | |
14 | g.33800322A>G | CA389413523 | NPAS3 | c.2015A>G (p.Glu672Gly) c.2024A>G (p.Glu675Gly) c.1915A>G c.793+2741A>G c.1919A>G (p.Glu640Gly) c.1976A>G (p.Glu659Gly) c.1925A>G (p.Glu642Gly) c.2030A>G (p.Glu677Gly) c.1937A>G (p.Glu646Gly) c.2036A>G (p.Glu679Gly) c.2066A>G (p.Glu689Gly) c.2057A>G (p.Glu686Gly) c.2027A>G (p.Glu676Gly) c.1970A>G (p.Glu657Gly) c.1916A>G (p.Glu639Gly) c.1709A>G (p.Glu570Gly) c.2123A>G (p.Glu708Gly) c.2117A>G (p.Glu706Gly) c.2114A>G (p.Glu705Gly) c.2174A>G (p.Glu725Gly) c.2165A>G (p.Glu722Gly) c.2084A>G (p.Glu695Gly) c.2033A>G (p.Glu678Gly) | |
14 | g.33800322A>T | CA389413525 | NPAS3 | c.2015A>T (p.Glu672Val) c.2024A>T (p.Glu675Val) c.1915A>T c.793+2741A>T c.1919A>T (p.Glu640Val) c.1976A>T (p.Glu659Val) c.1925A>T (p.Glu642Val) c.2030A>T (p.Glu677Val) c.1937A>T (p.Glu646Val) c.2036A>T (p.Glu679Val) c.2066A>T (p.Glu689Val) c.2057A>T (p.Glu686Val) c.2027A>T (p.Glu676Val) c.1970A>T (p.Glu657Val) c.1916A>T (p.Glu639Val) c.1709A>T (p.Glu570Val) c.2123A>T (p.Glu708Val) c.2117A>T (p.Glu706Val) c.2114A>T (p.Glu705Val) c.2174A>T (p.Glu725Val) c.2165A>T (p.Glu722Val) c.2084A>T (p.Glu695Val) c.2033A>T (p.Glu678Val) | |
14 | g.33800323G>A | CA486093020 | NPAS3 | c.2016G>A (p.Glu672=) c.2025G>A (p.Glu675=) c.1916G>A c.793+2742G>A c.1920G>A (p.Glu640=) c.1977G>A (p.Glu659=) c.1926G>A (p.Glu642=) c.2031G>A (p.Glu677=) c.1938G>A (p.Glu646=) c.2037G>A (p.Glu679=) c.2067G>A (p.Glu689=) c.2058G>A (p.Glu686=) c.2028G>A (p.Glu676=) c.1971G>A (p.Glu657=) c.1917G>A (p.Glu639=) c.1710G>A (p.Glu570=) c.2124G>A (p.Glu708=) c.2118G>A (p.Glu706=) c.2115G>A (p.Glu705=) c.2175G>A (p.Glu725=) c.2166G>A (p.Glu722=) c.2085G>A (p.Glu695=) c.2034G>A (p.Glu678=) | gnomAD v4 |
14 | g.33800323G>C | CA389413527 | NPAS3 | c.2016G>C (p.Glu672Asp) c.2025G>C (p.Glu675Asp) c.1916G>C c.793+2742G>C c.1920G>C (p.Glu640Asp) c.1977G>C (p.Glu659Asp) c.1926G>C (p.Glu642Asp) c.2031G>C (p.Glu677Asp) c.1938G>C (p.Glu646Asp) c.2037G>C (p.Glu679Asp) c.2067G>C (p.Glu689Asp) c.2058G>C (p.Glu686Asp) c.2028G>C (p.Glu676Asp) c.1971G>C (p.Glu657Asp) c.1917G>C (p.Glu639Asp) c.1710G>C (p.Glu570Asp) c.2124G>C (p.Glu708Asp) c.2118G>C (p.Glu706Asp) c.2115G>C (p.Glu705Asp) c.2175G>C (p.Glu725Asp) c.2166G>C (p.Glu722Asp) c.2085G>C (p.Glu695Asp) c.2034G>C (p.Glu678Asp) | dbSNP |
14 | g.33800323G= | CA2128327258 | NPAS3 | c.2016G= (p.Glu672=) c.2025G= (p.Glu675=) c.1916G= c.793+2742G= c.1920G= (p.Glu640=) c.1977G= (p.Glu659=) c.1926G= (p.Glu642=) c.2031G= (p.Glu677=) c.1938G= (p.Glu646=) c.2037G= (p.Glu679=) c.2067G= (p.Glu689=) c.2058G= (p.Glu686=) c.2028G= (p.Glu676=) c.1971G= (p.Glu657=) c.1917G= (p.Glu639=) c.1710G= (p.Glu570=) c.2124G= (p.Glu708=) c.2118G= (p.Glu706=) c.2115G= (p.Glu705=) c.2175G= (p.Glu725=) c.2166G= (p.Glu722=) c.2085G= (p.Glu695=) c.2034G= (p.Glu678=) | |
14 | g.33800323G>T | CA389413529 | NPAS3 | c.2016G>T (p.Glu672Asp) c.2025G>T (p.Glu675Asp) c.1916G>T c.793+2742G>T c.1920G>T (p.Glu640Asp) c.1977G>T (p.Glu659Asp) c.1926G>T (p.Glu642Asp) c.2031G>T (p.Glu677Asp) c.1938G>T (p.Glu646Asp) c.2037G>T (p.Glu679Asp) c.2067G>T (p.Glu689Asp) c.2058G>T (p.Glu686Asp) c.2028G>T (p.Glu676Asp) c.1971G>T (p.Glu657Asp) c.1917G>T (p.Glu639Asp) c.1710G>T (p.Glu570Asp) c.2124G>T (p.Glu708Asp) c.2118G>T (p.Glu706Asp) c.2115G>T (p.Glu705Asp) c.2175G>T (p.Glu725Asp) c.2166G>T (p.Glu722Asp) c.2085G>T (p.Glu695Asp) c.2034G>T (p.Glu678Asp) | |
14 | g.33800324A>C | CA389413534 | NPAS3 | c.2017A>C (p.Ile673Leu) c.2026A>C (p.Ile676Leu) c.1917A>C c.793+2743A>C c.1921A>C (p.Ile641Leu) c.1978A>C (p.Ile660Leu) c.1927A>C (p.Ile643Leu) c.2032A>C (p.Ile678Leu) c.1939A>C (p.Ile647Leu) c.2038A>C (p.Ile680Leu) c.2068A>C (p.Ile690Leu) c.2059A>C (p.Ile687Leu) c.2029A>C (p.Ile677Leu) c.1972A>C (p.Ile658Leu) c.1918A>C (p.Ile640Leu) c.1711A>C (p.Ile571Leu) c.2125A>C (p.Ile709Leu) c.2119A>C (p.Ile707Leu) c.2116A>C (p.Ile706Leu) c.2176A>C (p.Ile726Leu) c.2167A>C (p.Ile723Leu) c.2086A>C (p.Ile696Leu) c.2035A>C (p.Ile679Leu) | COSMIC COSMIC |
14 | g.33800324A>G | CA389413533 | NPAS3 | c.2017A>G (p.Ile673Val) c.2026A>G (p.Ile676Val) c.1917A>G c.793+2743A>G c.1921A>G (p.Ile641Val) c.1978A>G (p.Ile660Val) c.1927A>G (p.Ile643Val) c.2032A>G (p.Ile678Val) c.1939A>G (p.Ile647Val) c.2038A>G (p.Ile680Val) c.2068A>G (p.Ile690Val) c.2059A>G (p.Ile687Val) c.2029A>G (p.Ile677Val) c.1972A>G (p.Ile658Val) c.1918A>G (p.Ile640Val) c.1711A>G (p.Ile571Val) c.2125A>G (p.Ile709Val) c.2119A>G (p.Ile707Val) c.2116A>G (p.Ile706Val) c.2176A>G (p.Ile726Val) c.2167A>G (p.Ile723Val) c.2086A>G (p.Ile696Val) c.2035A>G (p.Ile679Val) | |
14 | g.33800324A>T | CA389413531 | NPAS3 | c.2017A>T (p.Ile673Phe) c.2026A>T (p.Ile676Phe) c.1917A>T c.793+2743A>T c.1921A>T (p.Ile641Phe) c.1978A>T (p.Ile660Phe) c.1927A>T (p.Ile643Phe) c.2032A>T (p.Ile678Phe) c.1939A>T (p.Ile647Phe) c.2038A>T (p.Ile680Phe) c.2068A>T (p.Ile690Phe) c.2059A>T (p.Ile687Phe) c.2029A>T (p.Ile677Phe) c.1972A>T (p.Ile658Phe) c.1918A>T (p.Ile640Phe) c.1711A>T (p.Ile571Phe) c.2125A>T (p.Ile709Phe) c.2119A>T (p.Ile707Phe) c.2116A>T (p.Ile706Phe) c.2176A>T (p.Ile726Phe) c.2167A>T (p.Ile723Phe) c.2086A>T (p.Ile696Phe) c.2035A>T (p.Ile679Phe) | |
14 | g.33800325T>A | CA389413535 | NPAS3 | c.2018T>A (p.Ile673Asn) c.2027T>A (p.Ile676Asn) c.1918T>A c.793+2744T>A c.1922T>A (p.Ile641Asn) c.1979T>A (p.Ile660Asn) c.1928T>A (p.Ile643Asn) c.2033T>A (p.Ile678Asn) c.1940T>A (p.Ile647Asn) c.2039T>A (p.Ile680Asn) c.2069T>A (p.Ile690Asn) c.2060T>A (p.Ile687Asn) c.2030T>A (p.Ile677Asn) c.1973T>A (p.Ile658Asn) c.1919T>A (p.Ile640Asn) c.1712T>A (p.Ile571Asn) c.2126T>A (p.Ile709Asn) c.2120T>A (p.Ile707Asn) c.2117T>A (p.Ile706Asn) c.2177T>A (p.Ile726Asn) c.2168T>A (p.Ile723Asn) c.2087T>A (p.Ile696Asn) c.2036T>A (p.Ile679Asn) | |
14 | g.33800325T>C | CA389413537 | NPAS3 | c.2018T>C (p.Ile673Thr) c.2027T>C (p.Ile676Thr) c.1918T>C c.793+2744T>C c.1922T>C (p.Ile641Thr) c.1979T>C (p.Ile660Thr) c.1928T>C (p.Ile643Thr) c.2033T>C (p.Ile678Thr) c.1940T>C (p.Ile647Thr) c.2039T>C (p.Ile680Thr) c.2069T>C (p.Ile690Thr) c.2060T>C (p.Ile687Thr) c.2030T>C (p.Ile677Thr) c.1973T>C (p.Ile658Thr) c.1919T>C (p.Ile640Thr) c.1712T>C (p.Ile571Thr) c.2126T>C (p.Ile709Thr) c.2120T>C (p.Ile707Thr) c.2117T>C (p.Ile706Thr) c.2177T>C (p.Ile726Thr) c.2168T>C (p.Ile723Thr) c.2087T>C (p.Ile696Thr) c.2036T>C (p.Ile679Thr) | dbSNP gnomAD v4 |
14 | g.33800325T>G | CA389413539 | NPAS3 | c.2018T>G (p.Ile673Ser) c.2027T>G (p.Ile676Ser) c.1918T>G c.793+2744T>G c.1922T>G (p.Ile641Ser) c.1979T>G (p.Ile660Ser) c.1928T>G (p.Ile643Ser) c.2033T>G (p.Ile678Ser) c.1940T>G (p.Ile647Ser) c.2039T>G (p.Ile680Ser) c.2069T>G (p.Ile690Ser) c.2060T>G (p.Ile687Ser) c.2030T>G (p.Ile677Ser) c.1973T>G (p.Ile658Ser) c.1919T>G (p.Ile640Ser) c.1712T>G (p.Ile571Ser) c.2126T>G (p.Ile709Ser) c.2120T>G (p.Ile707Ser) c.2117T>G (p.Ile706Ser) c.2177T>G (p.Ile726Ser) c.2168T>G (p.Ile723Ser) c.2087T>G (p.Ile696Ser) c.2036T>G (p.Ile679Ser) | |
14 | g.33800325T= | CA2128327261 | NPAS3 | c.2018T= (p.Ile673=) c.2027T= (p.Ile676=) c.1918T= c.793+2744T= c.1922T= (p.Ile641=) c.1979T= (p.Ile660=) c.1928T= (p.Ile643=) c.2033T= (p.Ile678=) c.1940T= (p.Ile647=) c.2039T= (p.Ile680=) c.2069T= (p.Ile690=) c.2060T= (p.Ile687=) c.2030T= (p.Ile677=) c.1973T= (p.Ile658=) c.1919T= (p.Ile640=) c.1712T= (p.Ile571=) c.2126T= (p.Ile709=) c.2120T= (p.Ile707=) c.2117T= (p.Ile706=) c.2177T= (p.Ile726=) c.2168T= (p.Ile723=) c.2087T= (p.Ile696=) c.2036T= (p.Ile679=) | |
14 | g.33800326C>A | CA486093021 | NPAS3 | c.2019C>A (p.Ile673=) c.2028C>A (p.Ile676=) c.1919C>A c.793+2745C>A c.1923C>A (p.Ile641=) c.1980C>A (p.Ile660=) c.1929C>A (p.Ile643=) c.2034C>A (p.Ile678=) c.1941C>A (p.Ile647=) c.2040C>A (p.Ile680=) c.2070C>A (p.Ile690=) c.2061C>A (p.Ile687=) c.2031C>A (p.Ile677=) c.1974C>A (p.Ile658=) c.1920C>A (p.Ile640=) c.1713C>A (p.Ile571=) c.2127C>A (p.Ile709=) c.2121C>A (p.Ile707=) c.2118C>A (p.Ile706=) c.2178C>A (p.Ile726=) c.2169C>A (p.Ile723=) c.2088C>A (p.Ile696=) c.2037C>A (p.Ile679=) | |
14 | g.33800326C>G | CA389413540 | NPAS3 | c.2019C>G (p.Ile673Met) c.2028C>G (p.Ile676Met) c.1919C>G c.793+2745C>G c.1923C>G (p.Ile641Met) c.1980C>G (p.Ile660Met) c.1929C>G (p.Ile643Met) c.2034C>G (p.Ile678Met) c.1941C>G (p.Ile647Met) c.2040C>G (p.Ile680Met) c.2070C>G (p.Ile690Met) c.2061C>G (p.Ile687Met) c.2031C>G (p.Ile677Met) c.1974C>G (p.Ile658Met) c.1920C>G (p.Ile640Met) c.1713C>G (p.Ile571Met) c.2127C>G (p.Ile709Met) c.2121C>G (p.Ile707Met) c.2118C>G (p.Ile706Met) c.2178C>G (p.Ile726Met) c.2169C>G (p.Ile723Met) c.2088C>G (p.Ile696Met) c.2037C>G (p.Ile679Met) | |
14 | g.33800326C>T | CA486093022 | NPAS3 | c.2019C>T (p.Ile673=) c.2028C>T (p.Ile676=) c.1919C>T c.793+2745C>T c.1923C>T (p.Ile641=) c.1980C>T (p.Ile660=) c.1929C>T (p.Ile643=) c.2034C>T (p.Ile678=) c.1941C>T (p.Ile647=) c.2040C>T (p.Ile680=) c.2070C>T (p.Ile690=) c.2061C>T (p.Ile687=) c.2031C>T (p.Ile677=) c.1974C>T (p.Ile658=) c.1920C>T (p.Ile640=) c.1713C>T (p.Ile571=) c.2127C>T (p.Ile709=) c.2121C>T (p.Ile707=) c.2118C>T (p.Ile706=) c.2178C>T (p.Ile726=) c.2169C>T (p.Ile723=) c.2088C>T (p.Ile696=) c.2037C>T (p.Ile679=) | |
14 | g.33800327T>A | CA389413543 | NPAS3 | c.2020T>A (p.Ser674Thr) c.2029T>A (p.Ser677Thr) c.1920T>A c.793+2746T>A c.1924T>A (p.Ser642Thr) c.1981T>A (p.Ser661Thr) c.1930T>A (p.Ser644Thr) c.2035T>A (p.Ser679Thr) c.1942T>A (p.Ser648Thr) c.2041T>A (p.Ser681Thr) c.2071T>A (p.Ser691Thr) c.2062T>A (p.Ser688Thr) c.2032T>A (p.Ser678Thr) c.1975T>A (p.Ser659Thr) c.1921T>A (p.Ser641Thr) c.1714T>A (p.Ser572Thr) c.2128T>A (p.Ser710Thr) c.2122T>A (p.Ser708Thr) c.2119T>A (p.Ser707Thr) c.2179T>A (p.Ser727Thr) c.2170T>A (p.Ser724Thr) c.2089T>A (p.Ser697Thr) c.2038T>A (p.Ser680Thr) | |
14 | g.33800327T>C | CA389413545 | NPAS3 | c.2020T>C (p.Ser674Pro) c.2029T>C (p.Ser677Pro) c.1920T>C c.793+2746T>C c.1924T>C (p.Ser642Pro) c.1981T>C (p.Ser661Pro) c.1930T>C (p.Ser644Pro) c.2035T>C (p.Ser679Pro) c.1942T>C (p.Ser648Pro) c.2041T>C (p.Ser681Pro) c.2071T>C (p.Ser691Pro) c.2062T>C (p.Ser688Pro) c.2032T>C (p.Ser678Pro) c.1975T>C (p.Ser659Pro) c.1921T>C (p.Ser641Pro) c.1714T>C (p.Ser572Pro) c.2128T>C (p.Ser710Pro) c.2122T>C (p.Ser708Pro) c.2119T>C (p.Ser707Pro) c.2179T>C (p.Ser727Pro) c.2170T>C (p.Ser724Pro) c.2089T>C (p.Ser697Pro) c.2038T>C (p.Ser680Pro) | |
14 | g.33800327T>G | CA389413547 | NPAS3 | c.2020T>G (p.Ser674Ala) c.2029T>G (p.Ser677Ala) c.1920T>G c.793+2746T>G c.1924T>G (p.Ser642Ala) c.1981T>G (p.Ser661Ala) c.1930T>G (p.Ser644Ala) c.2035T>G (p.Ser679Ala) c.1942T>G (p.Ser648Ala) c.2041T>G (p.Ser681Ala) c.2071T>G (p.Ser691Ala) c.2062T>G (p.Ser688Ala) c.2032T>G (p.Ser678Ala) c.1975T>G (p.Ser659Ala) c.1921T>G (p.Ser641Ala) c.1714T>G (p.Ser572Ala) c.2128T>G (p.Ser710Ala) c.2122T>G (p.Ser708Ala) c.2119T>G (p.Ser707Ala) c.2179T>G (p.Ser727Ala) c.2170T>G (p.Ser724Ala) c.2089T>G (p.Ser697Ala) c.2038T>G (p.Ser680Ala) | |
14 | g.33800328C>A | CA389413549 | NPAS3 | c.2021C>A (p.Ser674Tyr) c.2030C>A (p.Ser677Tyr) c.1921C>A c.793+2747C>A c.1925C>A (p.Ser642Tyr) c.1982C>A (p.Ser661Tyr) c.1931C>A (p.Ser644Tyr) c.2036C>A (p.Ser679Tyr) c.1943C>A (p.Ser648Tyr) c.2042C>A (p.Ser681Tyr) c.2072C>A (p.Ser691Tyr) c.2063C>A (p.Ser688Tyr) c.2033C>A (p.Ser678Tyr) c.1976C>A (p.Ser659Tyr) c.1922C>A (p.Ser641Tyr) c.1715C>A (p.Ser572Tyr) c.2129C>A (p.Ser710Tyr) c.2123C>A (p.Ser708Tyr) c.2120C>A (p.Ser707Tyr) c.2180C>A (p.Ser727Tyr) c.2171C>A (p.Ser724Tyr) c.2090C>A (p.Ser697Tyr) c.2039C>A (p.Ser680Tyr) | |
14 | g.33800328C>G | CA389413551 | NPAS3 | c.2021C>G (p.Ser674Cys) c.2030C>G (p.Ser677Cys) c.1921C>G c.793+2747C>G c.1925C>G (p.Ser642Cys) c.1982C>G (p.Ser661Cys) c.1931C>G (p.Ser644Cys) c.2036C>G (p.Ser679Cys) c.1943C>G (p.Ser648Cys) c.2042C>G (p.Ser681Cys) c.2072C>G (p.Ser691Cys) c.2063C>G (p.Ser688Cys) c.2033C>G (p.Ser678Cys) c.1976C>G (p.Ser659Cys) c.1922C>G (p.Ser641Cys) c.1715C>G (p.Ser572Cys) c.2129C>G (p.Ser710Cys) c.2123C>G (p.Ser708Cys) c.2120C>G (p.Ser707Cys) c.2180C>G (p.Ser727Cys) c.2171C>G (p.Ser724Cys) c.2090C>G (p.Ser697Cys) c.2039C>G (p.Ser680Cys) | gnomAD v4 |
14 | g.33800328C>T | CA389413553 | NPAS3 | c.2021C>T (p.Ser674Phe) c.2030C>T (p.Ser677Phe) c.1921C>T c.793+2747C>T c.1925C>T (p.Ser642Phe) c.1982C>T (p.Ser661Phe) c.1931C>T (p.Ser644Phe) c.2036C>T (p.Ser679Phe) c.1943C>T (p.Ser648Phe) c.2042C>T (p.Ser681Phe) c.2072C>T (p.Ser691Phe) c.2063C>T (p.Ser688Phe) c.2033C>T (p.Ser678Phe) c.1976C>T (p.Ser659Phe) c.1922C>T (p.Ser641Phe) c.1715C>T (p.Ser572Phe) c.2129C>T (p.Ser710Phe) c.2123C>T (p.Ser708Phe) c.2120C>T (p.Ser707Phe) c.2180C>T (p.Ser727Phe) c.2171C>T (p.Ser724Phe) c.2090C>T (p.Ser697Phe) c.2039C>T (p.Ser680Phe) | |
14 | g.33800329C>A | CA486093023 | NPAS3 | c.2022C>A (p.Ser674=) c.2031C>A (p.Ser677=) c.1922C>A c.793+2748C>A c.1926C>A (p.Ser642=) c.1983C>A (p.Ser661=) c.1932C>A (p.Ser644=) c.2037C>A (p.Ser679=) c.1944C>A (p.Ser648=) c.2043C>A (p.Ser681=) c.2073C>A (p.Ser691=) c.2064C>A (p.Ser688=) c.2034C>A (p.Ser678=) c.1977C>A (p.Ser659=) c.1923C>A (p.Ser641=) c.1716C>A (p.Ser572=) c.2130C>A (p.Ser710=) c.2124C>A (p.Ser708=) c.2121C>A (p.Ser707=) c.2181C>A (p.Ser727=) c.2172C>A (p.Ser724=) c.2091C>A (p.Ser697=) c.2040C>A (p.Ser680=) | COSMIC COSMIC |
14 | g.33800329C>G | CA486093024 | NPAS3 | c.2022C>G (p.Ser674=) c.2031C>G (p.Ser677=) c.1922C>G c.793+2748C>G c.1926C>G (p.Ser642=) c.1983C>G (p.Ser661=) c.1932C>G (p.Ser644=) c.2037C>G (p.Ser679=) c.1944C>G (p.Ser648=) c.2043C>G (p.Ser681=) c.2073C>G (p.Ser691=) c.2064C>G (p.Ser688=) c.2034C>G (p.Ser678=) c.1977C>G (p.Ser659=) c.1923C>G (p.Ser641=) c.1716C>G (p.Ser572=) c.2130C>G (p.Ser710=) c.2124C>G (p.Ser708=) c.2121C>G (p.Ser707=) c.2181C>G (p.Ser727=) c.2172C>G (p.Ser724=) c.2091C>G (p.Ser697=) c.2040C>G (p.Ser680=) | |
14 | g.33800329C>T | CA486093025 | NPAS3 | c.2022C>T (p.Ser674=) c.2031C>T (p.Ser677=) c.1922C>T c.793+2748C>T c.1926C>T (p.Ser642=) c.1983C>T (p.Ser661=) c.1932C>T (p.Ser644=) c.2037C>T (p.Ser679=) c.1944C>T (p.Ser648=) c.2043C>T (p.Ser681=) c.2073C>T (p.Ser691=) c.2064C>T (p.Ser688=) c.2034C>T (p.Ser678=) c.1977C>T (p.Ser659=) c.1923C>T (p.Ser641=) c.1716C>T (p.Ser572=) c.2130C>T (p.Ser710=) c.2124C>T (p.Ser708=) c.2121C>T (p.Ser707=) c.2181C>T (p.Ser727=) c.2172C>T (p.Ser724=) c.2091C>T (p.Ser697=) c.2040C>T (p.Ser680=) | |
14 | g.33800330A>C | CA486093026 | NPAS3 | c.2023A>C (p.Arg675=) c.2032A>C (p.Arg678=) c.1923A>C c.793+2749A>C c.1927A>C (p.Arg643=) c.1984A>C (p.Arg662=) c.1933A>C (p.Arg645=) c.2038A>C (p.Arg680=) c.1945A>C (p.Arg649=) c.2044A>C (p.Arg682=) c.2074A>C (p.Arg692=) c.2065A>C (p.Arg689=) c.2035A>C (p.Arg679=) c.1978A>C (p.Arg660=) c.1924A>C (p.Arg642=) c.1717A>C (p.Arg573=) c.2131A>C (p.Arg711=) c.2125A>C (p.Arg709=) c.2122A>C (p.Arg708=) c.2182A>C (p.Arg728=) c.2173A>C (p.Arg725=) c.2092A>C (p.Arg698=) c.2041A>C (p.Arg681=) | |
14 | g.33800330A>G | CA389413555 | NPAS3 | c.2023A>G (p.Arg675Gly) c.2032A>G (p.Arg678Gly) c.1923A>G c.793+2749A>G c.1927A>G (p.Arg643Gly) c.1984A>G (p.Arg662Gly) c.1933A>G (p.Arg645Gly) c.2038A>G (p.Arg680Gly) c.1945A>G (p.Arg649Gly) c.2044A>G (p.Arg682Gly) c.2074A>G (p.Arg692Gly) c.2065A>G (p.Arg689Gly) c.2035A>G (p.Arg679Gly) c.1978A>G (p.Arg660Gly) c.1924A>G (p.Arg642Gly) c.1717A>G (p.Arg573Gly) c.2131A>G (p.Arg711Gly) c.2125A>G (p.Arg709Gly) c.2122A>G (p.Arg708Gly) c.2182A>G (p.Arg728Gly) c.2173A>G (p.Arg725Gly) c.2092A>G (p.Arg698Gly) c.2041A>G (p.Arg681Gly) | gnomAD v4 |
14 | g.33800330A>T | CA389413559 | NPAS3 | c.2023A>T (p.Arg675Trp) c.2032A>T (p.Arg678Trp) c.1923A>T c.793+2749A>T c.1927A>T (p.Arg643Trp) c.1984A>T (p.Arg662Trp) c.1933A>T (p.Arg645Trp) c.2038A>T (p.Arg680Trp) c.1945A>T (p.Arg649Trp) c.2044A>T (p.Arg682Trp) c.2074A>T (p.Arg692Trp) c.2065A>T (p.Arg689Trp) c.2035A>T (p.Arg679Trp) c.1978A>T (p.Arg660Trp) c.1924A>T (p.Arg642Trp) c.1717A>T (p.Arg573Trp) c.2131A>T (p.Arg711Trp) c.2125A>T (p.Arg709Trp) c.2122A>T (p.Arg708Trp) c.2182A>T (p.Arg728Trp) c.2173A>T (p.Arg725Trp) c.2092A>T (p.Arg698Trp) c.2041A>T (p.Arg681Trp) | |
14 | g.33800331G>A | CA389413564 | NPAS3 | c.2024G>A (p.Arg675Lys) c.2033G>A (p.Arg678Lys) c.1924G>A c.793+2750G>A c.1928G>A (p.Arg643Lys) c.1985G>A (p.Arg662Lys) c.1934G>A (p.Arg645Lys) c.2039G>A (p.Arg680Lys) c.1946G>A (p.Arg649Lys) c.2045G>A (p.Arg682Lys) c.2075G>A (p.Arg692Lys) c.2066G>A (p.Arg689Lys) c.2036G>A (p.Arg679Lys) c.1979G>A (p.Arg660Lys) c.1925G>A (p.Arg642Lys) c.1718G>A (p.Arg573Lys) c.2132G>A (p.Arg711Lys) c.2126G>A (p.Arg709Lys) c.2123G>A (p.Arg708Lys) c.2183G>A (p.Arg728Lys) c.2174G>A (p.Arg725Lys) c.2093G>A (p.Arg698Lys) c.2042G>A (p.Arg681Lys) | |
14 | g.33800331G>C | CA389413565 | NPAS3 | c.2024G>C (p.Arg675Thr) c.2033G>C (p.Arg678Thr) c.1924G>C c.793+2750G>C c.1928G>C (p.Arg643Thr) c.1985G>C (p.Arg662Thr) c.1934G>C (p.Arg645Thr) c.2039G>C (p.Arg680Thr) c.1946G>C (p.Arg649Thr) c.2045G>C (p.Arg682Thr) c.2075G>C (p.Arg692Thr) c.2066G>C (p.Arg689Thr) c.2036G>C (p.Arg679Thr) c.1979G>C (p.Arg660Thr) c.1925G>C (p.Arg642Thr) c.1718G>C (p.Arg573Thr) c.2132G>C (p.Arg711Thr) c.2126G>C (p.Arg709Thr) c.2123G>C (p.Arg708Thr) c.2183G>C (p.Arg728Thr) c.2174G>C (p.Arg725Thr) c.2093G>C (p.Arg698Thr) c.2042G>C (p.Arg681Thr) | dbSNP |
14 | g.33800331G= | CA2128327265 | NPAS3 | c.2024G= (p.Arg675=) c.2033G= (p.Arg678=) c.1924G= c.793+2750G= c.1928G= (p.Arg643=) c.1985G= (p.Arg662=) c.1934G= (p.Arg645=) c.2039G= (p.Arg680=) c.1946G= (p.Arg649=) c.2045G= (p.Arg682=) c.2075G= (p.Arg692=) c.2066G= (p.Arg689=) c.2036G= (p.Arg679=) c.1979G= (p.Arg660=) c.1925G= (p.Arg642=) c.1718G= (p.Arg573=) c.2132G= (p.Arg711=) c.2126G= (p.Arg709=) c.2123G= (p.Arg708=) c.2183G= (p.Arg728=) c.2174G= (p.Arg725=) c.2093G= (p.Arg698=) c.2042G= (p.Arg681=) | |
14 | g.33800331G>T | CA389413562 | NPAS3 | c.2024G>T (p.Arg675Met) c.2033G>T (p.Arg678Met) c.1924G>T c.793+2750G>T c.1928G>T (p.Arg643Met) c.1985G>T (p.Arg662Met) c.1934G>T (p.Arg645Met) c.2039G>T (p.Arg680Met) c.1946G>T (p.Arg649Met) c.2045G>T (p.Arg682Met) c.2075G>T (p.Arg692Met) c.2066G>T (p.Arg689Met) c.2036G>T (p.Arg679Met) c.1979G>T (p.Arg660Met) c.1925G>T (p.Arg642Met) c.1718G>T (p.Arg573Met) c.2132G>T (p.Arg711Met) c.2126G>T (p.Arg709Met) c.2123G>T (p.Arg708Met) c.2183G>T (p.Arg728Met) c.2174G>T (p.Arg725Met) c.2093G>T (p.Arg698Met) c.2042G>T (p.Arg681Met) | |
14 | g.33800331_33800332delinsAA | CA645582789 | NPAS3 | c.2024_2025delinsAA (p.Arg675Lys) c.2033_2034delinsAA (p.Arg678Lys) c.1924_1925delinsAA c.793+2750_793+2751delinsAA c.1928_1929delinsAA (p.Arg643Lys) c.1985_1986delinsAA (p.Arg662Lys) c.1934_1935delinsAA (p.Arg645Lys) c.2039_2040delinsAA (p.Arg680Lys) c.1946_1947delinsAA (p.Arg649Lys) c.2045_2046delinsAA (p.Arg682Lys) c.2075_2076delinsAA (p.Arg692Lys) c.2066_2067delinsAA (p.Arg689Lys) c.2036_2037delinsAA (p.Arg679Lys) c.1979_1980delinsAA (p.Arg660Lys) c.1925_1926delinsAA (p.Arg642Lys) c.1718_1719delinsAA (p.Arg573Lys) c.2132_2133delinsAA (p.Arg711Lys) c.2126_2127delinsAA (p.Arg709Lys) c.2123_2124delinsAA (p.Arg708Lys) c.2183_2184delinsAA (p.Arg728Lys) c.2174_2175delinsAA (p.Arg725Lys) c.2093_2094delinsAA (p.Arg698Lys) c.2042_2043delinsAA (p.Arg681Lys) | COSMIC COSMIC COSMIC |
14 | g.33800332G>A | CA486093027 | NPAS3 | c.2025G>A (p.Arg675=) c.2034G>A (p.Arg678=) c.1925G>A c.793+2751G>A c.1929G>A (p.Arg643=) c.1986G>A (p.Arg662=) c.1935G>A (p.Arg645=) c.2040G>A (p.Arg680=) c.1947G>A (p.Arg649=) c.2046G>A (p.Arg682=) c.2076G>A (p.Arg692=) c.2067G>A (p.Arg689=) c.2037G>A (p.Arg679=) c.1980G>A (p.Arg660=) c.1926G>A (p.Arg642=) c.1719G>A (p.Arg573=) c.2133G>A (p.Arg711=) c.2127G>A (p.Arg709=) c.2124G>A (p.Arg708=) c.2184G>A (p.Arg728=) c.2175G>A (p.Arg725=) c.2094G>A (p.Arg698=) c.2043G>A (p.Arg681=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800332G>C | CA389413569 | NPAS3 | c.2025G>C (p.Arg675Ser) c.2034G>C (p.Arg678Ser) c.1925G>C c.793+2751G>C c.1929G>C (p.Arg643Ser) c.1986G>C (p.Arg662Ser) c.1935G>C (p.Arg645Ser) c.2040G>C (p.Arg680Ser) c.1947G>C (p.Arg649Ser) c.2046G>C (p.Arg682Ser) c.2076G>C (p.Arg692Ser) c.2067G>C (p.Arg689Ser) c.2037G>C (p.Arg679Ser) c.1980G>C (p.Arg660Ser) c.1926G>C (p.Arg642Ser) c.1719G>C (p.Arg573Ser) c.2133G>C (p.Arg711Ser) c.2127G>C (p.Arg709Ser) c.2124G>C (p.Arg708Ser) c.2184G>C (p.Arg728Ser) c.2175G>C (p.Arg725Ser) c.2094G>C (p.Arg698Ser) c.2043G>C (p.Arg681Ser) | |
14 | g.33800332G= | CA2128327268 | NPAS3 | c.2025G= (p.Arg675=) c.2034G= (p.Arg678=) c.1925G= c.793+2751G= c.1929G= (p.Arg643=) c.1986G= (p.Arg662=) c.1935G= (p.Arg645=) c.2040G= (p.Arg680=) c.1947G= (p.Arg649=) c.2046G= (p.Arg682=) c.2076G= (p.Arg692=) c.2067G= (p.Arg689=) c.2037G= (p.Arg679=) c.1980G= (p.Arg660=) c.1926G= (p.Arg642=) c.1719G= (p.Arg573=) c.2133G= (p.Arg711=) c.2127G= (p.Arg709=) c.2124G= (p.Arg708=) c.2184G= (p.Arg728=) c.2175G= (p.Arg725=) c.2094G= (p.Arg698=) c.2043G= (p.Arg681=) | |
14 | g.33800332G>T | CA389413570 | NPAS3 | c.2025G>T (p.Arg675Ser) c.2034G>T (p.Arg678Ser) c.1925G>T c.793+2751G>T c.1929G>T (p.Arg643Ser) c.1986G>T (p.Arg662Ser) c.1935G>T (p.Arg645Ser) c.2040G>T (p.Arg680Ser) c.1947G>T (p.Arg649Ser) c.2046G>T (p.Arg682Ser) c.2076G>T (p.Arg692Ser) c.2067G>T (p.Arg689Ser) c.2037G>T (p.Arg679Ser) c.1980G>T (p.Arg660Ser) c.1926G>T (p.Arg642Ser) c.1719G>T (p.Arg573Ser) c.2133G>T (p.Arg711Ser) c.2127G>T (p.Arg709Ser) c.2124G>T (p.Arg708Ser) c.2184G>T (p.Arg728Ser) c.2175G>T (p.Arg725Ser) c.2094G>T (p.Arg698Ser) c.2043G>T (p.Arg681Ser) | |
14 | g.33800333A>C | CA389413573 | NPAS3 | c.2026A>C (p.Asn676His) c.2035A>C (p.Asn679His) c.1926A>C c.793+2752A>C c.1930A>C (p.Asn644His) c.1987A>C (p.Asn663His) c.1936A>C (p.Asn646His) c.2041A>C (p.Asn681His) c.1948A>C (p.Asn650His) c.2047A>C (p.Asn683His) c.2077A>C (p.Asn693His) c.2068A>C (p.Asn690His) c.2038A>C (p.Asn680His) c.1981A>C (p.Asn661His) c.1927A>C (p.Asn643His) c.1720A>C (p.Asn574His) c.2134A>C (p.Asn712His) c.2128A>C (p.Asn710His) c.2125A>C (p.Asn709His) c.2185A>C (p.Asn729His) c.2176A>C (p.Asn726His) c.2095A>C (p.Asn699His) c.2044A>C (p.Asn682His) | |
14 | g.33800333A>G | CA389413575 | NPAS3 | c.2026A>G (p.Asn676Asp) c.2035A>G (p.Asn679Asp) c.1926A>G c.793+2752A>G c.1930A>G (p.Asn644Asp) c.1987A>G (p.Asn663Asp) c.1936A>G (p.Asn646Asp) c.2041A>G (p.Asn681Asp) c.1948A>G (p.Asn650Asp) c.2047A>G (p.Asn683Asp) c.2077A>G (p.Asn693Asp) c.2068A>G (p.Asn690Asp) c.2038A>G (p.Asn680Asp) c.1981A>G (p.Asn661Asp) c.1927A>G (p.Asn643Asp) c.1720A>G (p.Asn574Asp) c.2134A>G (p.Asn712Asp) c.2128A>G (p.Asn710Asp) c.2125A>G (p.Asn709Asp) c.2185A>G (p.Asn729Asp) c.2176A>G (p.Asn726Asp) c.2095A>G (p.Asn699Asp) c.2044A>G (p.Asn682Asp) | |
14 | g.33800333A>T | CA389413576 | NPAS3 | c.2026A>T (p.Asn676Tyr) c.2035A>T (p.Asn679Tyr) c.1926A>T c.793+2752A>T c.1930A>T (p.Asn644Tyr) c.1987A>T (p.Asn663Tyr) c.1936A>T (p.Asn646Tyr) c.2041A>T (p.Asn681Tyr) c.1948A>T (p.Asn650Tyr) c.2047A>T (p.Asn683Tyr) c.2077A>T (p.Asn693Tyr) c.2068A>T (p.Asn690Tyr) c.2038A>T (p.Asn680Tyr) c.1981A>T (p.Asn661Tyr) c.1927A>T (p.Asn643Tyr) c.1720A>T (p.Asn574Tyr) c.2134A>T (p.Asn712Tyr) c.2128A>T (p.Asn710Tyr) c.2125A>T (p.Asn709Tyr) c.2185A>T (p.Asn729Tyr) c.2176A>T (p.Asn726Tyr) c.2095A>T (p.Asn699Tyr) c.2044A>T (p.Asn682Tyr) | |
14 | g.33800334A>C | CA389413582 | NPAS3 | c.2027A>C (p.Asn676Thr) c.2036A>C (p.Asn679Thr) c.1927A>C c.793+2753A>C c.1931A>C (p.Asn644Thr) c.1988A>C (p.Asn663Thr) c.1937A>C (p.Asn646Thr) c.2042A>C (p.Asn681Thr) c.1949A>C (p.Asn650Thr) c.2048A>C (p.Asn683Thr) c.2078A>C (p.Asn693Thr) c.2069A>C (p.Asn690Thr) c.2039A>C (p.Asn680Thr) c.1982A>C (p.Asn661Thr) c.1928A>C (p.Asn643Thr) c.1721A>C (p.Asn574Thr) c.2135A>C (p.Asn712Thr) c.2129A>C (p.Asn710Thr) c.2126A>C (p.Asn709Thr) c.2186A>C (p.Asn729Thr) c.2177A>C (p.Asn726Thr) c.2096A>C (p.Asn699Thr) c.2045A>C (p.Asn682Thr) | |
14 | g.33800334A>G | CA389413579 | NPAS3 | c.2027A>G (p.Asn676Ser) c.2036A>G (p.Asn679Ser) c.1927A>G c.793+2753A>G c.1931A>G (p.Asn644Ser) c.1988A>G (p.Asn663Ser) c.1937A>G (p.Asn646Ser) c.2042A>G (p.Asn681Ser) c.1949A>G (p.Asn650Ser) c.2048A>G (p.Asn683Ser) c.2078A>G (p.Asn693Ser) c.2069A>G (p.Asn690Ser) c.2039A>G (p.Asn680Ser) c.1982A>G (p.Asn661Ser) c.1928A>G (p.Asn643Ser) c.1721A>G (p.Asn574Ser) c.2135A>G (p.Asn712Ser) c.2129A>G (p.Asn710Ser) c.2126A>G (p.Asn709Ser) c.2186A>G (p.Asn729Ser) c.2177A>G (p.Asn726Ser) c.2096A>G (p.Asn699Ser) c.2045A>G (p.Asn682Ser) | |
14 | g.33800334A>T | CA389413581 | NPAS3 | c.2027A>T (p.Asn676Ile) c.2036A>T (p.Asn679Ile) c.1927A>T c.793+2753A>T c.1931A>T (p.Asn644Ile) c.1988A>T (p.Asn663Ile) c.1937A>T (p.Asn646Ile) c.2042A>T (p.Asn681Ile) c.1949A>T (p.Asn650Ile) c.2048A>T (p.Asn683Ile) c.2078A>T (p.Asn693Ile) c.2069A>T (p.Asn690Ile) c.2039A>T (p.Asn680Ile) c.1982A>T (p.Asn661Ile) c.1928A>T (p.Asn643Ile) c.1721A>T (p.Asn574Ile) c.2135A>T (p.Asn712Ile) c.2129A>T (p.Asn710Ile) c.2126A>T (p.Asn709Ile) c.2186A>T (p.Asn729Ile) c.2177A>T (p.Asn726Ile) c.2096A>T (p.Asn699Ile) c.2045A>T (p.Asn682Ile) | |
14 | g.33800335C>A | CA389413585 | NPAS3 | c.2028C>A (p.Asn676Lys) c.2037C>A (p.Asn679Lys) c.1928C>A c.793+2754C>A c.1932C>A (p.Asn644Lys) c.1989C>A (p.Asn663Lys) c.1938C>A (p.Asn646Lys) c.2043C>A (p.Asn681Lys) c.1950C>A (p.Asn650Lys) c.2049C>A (p.Asn683Lys) c.2079C>A (p.Asn693Lys) c.2070C>A (p.Asn690Lys) c.2040C>A (p.Asn680Lys) c.1983C>A (p.Asn661Lys) c.1929C>A (p.Asn643Lys) c.1722C>A (p.Asn574Lys) c.2136C>A (p.Asn712Lys) c.2130C>A (p.Asn710Lys) c.2127C>A (p.Asn709Lys) c.2187C>A (p.Asn729Lys) c.2178C>A (p.Asn726Lys) c.2097C>A (p.Asn699Lys) c.2046C>A (p.Asn682Lys) | |
14 | g.33800335C= | CA2128327272 | NPAS3 | c.2028C= (p.Asn676=) c.2037C= (p.Asn679=) c.1928C= c.793+2754C= c.1932C= (p.Asn644=) c.1989C= (p.Asn663=) c.1938C= (p.Asn646=) c.2043C= (p.Asn681=) c.1950C= (p.Asn650=) c.2049C= (p.Asn683=) c.2079C= (p.Asn693=) c.2070C= (p.Asn690=) c.2040C= (p.Asn680=) c.1983C= (p.Asn661=) c.1929C= (p.Asn643=) c.1722C= (p.Asn574=) c.2136C= (p.Asn712=) c.2130C= (p.Asn710=) c.2127C= (p.Asn709=) c.2187C= (p.Asn729=) c.2178C= (p.Asn726=) c.2097C= (p.Asn699=) c.2046C= (p.Asn682=) | |
14 | g.33800335C>G | CA389413587 | NPAS3 | c.2028C>G (p.Asn676Lys) c.2037C>G (p.Asn679Lys) c.1928C>G c.793+2754C>G c.1932C>G (p.Asn644Lys) c.1989C>G (p.Asn663Lys) c.1938C>G (p.Asn646Lys) c.2043C>G (p.Asn681Lys) c.1950C>G (p.Asn650Lys) c.2049C>G (p.Asn683Lys) c.2079C>G (p.Asn693Lys) c.2070C>G (p.Asn690Lys) c.2040C>G (p.Asn680Lys) c.1983C>G (p.Asn661Lys) c.1929C>G (p.Asn643Lys) c.1722C>G (p.Asn574Lys) c.2136C>G (p.Asn712Lys) c.2130C>G (p.Asn710Lys) c.2127C>G (p.Asn709Lys) c.2187C>G (p.Asn729Lys) c.2178C>G (p.Asn726Lys) c.2097C>G (p.Asn699Lys) c.2046C>G (p.Asn682Lys) | |
14 | g.33800335C>T | CA7150924 | NPAS3 | c.2028C>T (p.Asn676=) c.2037C>T (p.Asn679=) c.1928C>T c.793+2754C>T c.1932C>T (p.Asn644=) c.1989C>T (p.Asn663=) c.1938C>T (p.Asn646=) c.2043C>T (p.Asn681=) c.1950C>T (p.Asn650=) c.2049C>T (p.Asn683=) c.2079C>T (p.Asn693=) c.2070C>T (p.Asn690=) c.2040C>T (p.Asn680=) c.1983C>T (p.Asn661=) c.1929C>T (p.Asn643=) c.1722C>T (p.Asn574=) c.2136C>T (p.Asn712=) c.2130C>T (p.Asn710=) c.2127C>T (p.Asn709=) c.2187C>T (p.Asn729=) c.2178C>T (p.Asn726=) c.2097C>T (p.Asn699=) c.2046C>T (p.Asn682=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800336G>A | CA389413589 | NPAS3 | c.2029G>A (p.Glu677Lys) c.2038G>A (p.Glu680Lys) c.1929G>A c.793+2755G>A c.1933G>A (p.Glu645Lys) c.1990G>A (p.Glu664Lys) c.1939G>A (p.Glu647Lys) c.2044G>A (p.Glu682Lys) c.1951G>A (p.Glu651Lys) c.2050G>A (p.Glu684Lys) c.2080G>A (p.Glu694Lys) c.2071G>A (p.Glu691Lys) c.2041G>A (p.Glu681Lys) c.1984G>A (p.Glu662Lys) c.1930G>A (p.Glu644Lys) c.1723G>A (p.Glu575Lys) c.2137G>A (p.Glu713Lys) c.2131G>A (p.Glu711Lys) c.2128G>A (p.Glu710Lys) c.2188G>A (p.Glu730Lys) c.2179G>A (p.Glu727Lys) c.2098G>A (p.Glu700Lys) c.2047G>A (p.Glu683Lys) | gnomAD v4 |
14 | g.33800336G>C | CA389413591 | NPAS3 | c.2029G>C (p.Glu677Gln) c.2038G>C (p.Glu680Gln) c.1929G>C c.793+2755G>C c.1933G>C (p.Glu645Gln) c.1990G>C (p.Glu664Gln) c.1939G>C (p.Glu647Gln) c.2044G>C (p.Glu682Gln) c.1951G>C (p.Glu651Gln) c.2050G>C (p.Glu684Gln) c.2080G>C (p.Glu694Gln) c.2071G>C (p.Glu691Gln) c.2041G>C (p.Glu681Gln) c.1984G>C (p.Glu662Gln) c.1930G>C (p.Glu644Gln) c.1723G>C (p.Glu575Gln) c.2137G>C (p.Glu713Gln) c.2131G>C (p.Glu711Gln) c.2128G>C (p.Glu710Gln) c.2188G>C (p.Glu730Gln) c.2179G>C (p.Glu727Gln) c.2098G>C (p.Glu700Gln) c.2047G>C (p.Glu683Gln) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800336G= | CA2128327275 | NPAS3 | c.2029G= (p.Glu677=) c.2038G= (p.Glu680=) c.1929G= c.793+2755G= c.1933G= (p.Glu645=) c.1990G= (p.Glu664=) c.1939G= (p.Glu647=) c.2044G= (p.Glu682=) c.1951G= (p.Glu651=) c.2050G= (p.Glu684=) c.2080G= (p.Glu694=) c.2071G= (p.Glu691=) c.2041G= (p.Glu681=) c.1984G= (p.Glu662=) c.1930G= (p.Glu644=) c.1723G= (p.Glu575=) c.2137G= (p.Glu713=) c.2131G= (p.Glu711=) c.2128G= (p.Glu710=) c.2188G= (p.Glu730=) c.2179G= (p.Glu727=) c.2098G= (p.Glu700=) c.2047G= (p.Glu683=) | |
14 | g.33800336G>T | CA389413593 | NPAS3 | c.2029G>T (p.Glu677Ter) c.2038G>T (p.Glu680Ter) c.1929G>T c.793+2755G>T c.1933G>T (p.Glu645Ter) c.1990G>T (p.Glu664Ter) c.1939G>T (p.Glu647Ter) c.2044G>T (p.Glu682Ter) c.1951G>T (p.Glu651Ter) c.2050G>T (p.Glu684Ter) c.2080G>T (p.Glu694Ter) c.2071G>T (p.Glu691Ter) c.2041G>T (p.Glu681Ter) c.1984G>T (p.Glu662Ter) c.1930G>T (p.Glu644Ter) c.1723G>T (p.Glu575Ter) c.2137G>T (p.Glu713Ter) c.2131G>T (p.Glu711Ter) c.2128G>T (p.Glu710Ter) c.2188G>T (p.Glu730Ter) c.2179G>T (p.Glu727Ter) c.2098G>T (p.Glu700Ter) c.2047G>T (p.Glu683Ter) | |
14 | g.33800337A>C | CA389413598 | NPAS3 | c.2030A>C (p.Glu677Ala) c.2039A>C (p.Glu680Ala) c.1930A>C c.793+2756A>C c.1934A>C (p.Glu645Ala) c.1991A>C (p.Glu664Ala) c.1940A>C (p.Glu647Ala) c.2045A>C (p.Glu682Ala) c.1952A>C (p.Glu651Ala) c.2051A>C (p.Glu684Ala) c.2081A>C (p.Glu694Ala) c.2072A>C (p.Glu691Ala) c.2042A>C (p.Glu681Ala) c.1985A>C (p.Glu662Ala) c.1931A>C (p.Glu644Ala) c.1724A>C (p.Glu575Ala) c.2138A>C (p.Glu713Ala) c.2132A>C (p.Glu711Ala) c.2129A>C (p.Glu710Ala) c.2189A>C (p.Glu730Ala) c.2180A>C (p.Glu727Ala) c.2099A>C (p.Glu700Ala) c.2048A>C (p.Glu683Ala) | |
14 | g.33800337A>G | CA389413599 | NPAS3 | c.2030A>G (p.Glu677Gly) c.2039A>G (p.Glu680Gly) c.1930A>G c.793+2756A>G c.1934A>G (p.Glu645Gly) c.1991A>G (p.Glu664Gly) c.1940A>G (p.Glu647Gly) c.2045A>G (p.Glu682Gly) c.1952A>G (p.Glu651Gly) c.2051A>G (p.Glu684Gly) c.2081A>G (p.Glu694Gly) c.2072A>G (p.Glu691Gly) c.2042A>G (p.Glu681Gly) c.1985A>G (p.Glu662Gly) c.1931A>G (p.Glu644Gly) c.1724A>G (p.Glu575Gly) c.2138A>G (p.Glu713Gly) c.2132A>G (p.Glu711Gly) c.2129A>G (p.Glu710Gly) c.2189A>G (p.Glu730Gly) c.2180A>G (p.Glu727Gly) c.2099A>G (p.Glu700Gly) c.2048A>G (p.Glu683Gly) | |
14 | g.33800337A>T | CA389413596 | NPAS3 | c.2030A>T (p.Glu677Val) c.2039A>T (p.Glu680Val) c.1930A>T c.793+2756A>T c.1934A>T (p.Glu645Val) c.1991A>T (p.Glu664Val) c.1940A>T (p.Glu647Val) c.2045A>T (p.Glu682Val) c.1952A>T (p.Glu651Val) c.2051A>T (p.Glu684Val) c.2081A>T (p.Glu694Val) c.2072A>T (p.Glu691Val) c.2042A>T (p.Glu681Val) c.1985A>T (p.Glu662Val) c.1931A>T (p.Glu644Val) c.1724A>T (p.Glu575Val) c.2138A>T (p.Glu713Val) c.2132A>T (p.Glu711Val) c.2129A>T (p.Glu710Val) c.2189A>T (p.Glu730Val) c.2180A>T (p.Glu727Val) c.2099A>T (p.Glu700Val) c.2048A>T (p.Glu683Val) | gnomAD v4 |
14 | g.33800338G>A | CA486093028 | NPAS3 | c.2031G>A (p.Glu677=) c.2040G>A (p.Glu680=) c.1931G>A c.793+2757G>A c.1935G>A (p.Glu645=) c.1992G>A (p.Glu664=) c.1941G>A (p.Glu647=) c.2046G>A (p.Glu682=) c.1953G>A (p.Glu651=) c.2052G>A (p.Glu684=) c.2082G>A (p.Glu694=) c.2073G>A (p.Glu691=) c.2043G>A (p.Glu681=) c.1986G>A (p.Glu662=) c.1932G>A (p.Glu644=) c.1725G>A (p.Glu575=) c.2139G>A (p.Glu713=) c.2133G>A (p.Glu711=) c.2130G>A (p.Glu710=) c.2190G>A (p.Glu730=) c.2181G>A (p.Glu727=) c.2100G>A (p.Glu700=) c.2049G>A (p.Glu683=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800338G>C | CA389413603 | NPAS3 | c.2031G>C (p.Glu677Asp) c.2040G>C (p.Glu680Asp) c.1931G>C c.793+2757G>C c.1935G>C (p.Glu645Asp) c.1992G>C (p.Glu664Asp) c.1941G>C (p.Glu647Asp) c.2046G>C (p.Glu682Asp) c.1953G>C (p.Glu651Asp) c.2052G>C (p.Glu684Asp) c.2082G>C (p.Glu694Asp) c.2073G>C (p.Glu691Asp) c.2043G>C (p.Glu681Asp) c.1986G>C (p.Glu662Asp) c.1932G>C (p.Glu644Asp) c.1725G>C (p.Glu575Asp) c.2139G>C (p.Glu713Asp) c.2133G>C (p.Glu711Asp) c.2130G>C (p.Glu710Asp) c.2190G>C (p.Glu730Asp) c.2181G>C (p.Glu727Asp) c.2100G>C (p.Glu700Asp) c.2049G>C (p.Glu683Asp) | |
14 | g.33800338G= | CA2128327278 | NPAS3 | c.2031G= (p.Glu677=) c.2040G= (p.Glu680=) c.1931G= c.793+2757G= c.1935G= (p.Glu645=) c.1992G= (p.Glu664=) c.1941G= (p.Glu647=) c.2046G= (p.Glu682=) c.1953G= (p.Glu651=) c.2052G= (p.Glu684=) c.2082G= (p.Glu694=) c.2073G= (p.Glu691=) c.2043G= (p.Glu681=) c.1986G= (p.Glu662=) c.1932G= (p.Glu644=) c.1725G= (p.Glu575=) c.2139G= (p.Glu713=) c.2133G= (p.Glu711=) c.2130G= (p.Glu710=) c.2190G= (p.Glu730=) c.2181G= (p.Glu727=) c.2100G= (p.Glu700=) c.2049G= (p.Glu683=) | |
14 | g.33800338G>T | CA389413602 | NPAS3 | c.2031G>T (p.Glu677Asp) c.2040G>T (p.Glu680Asp) c.1931G>T c.793+2757G>T c.1935G>T (p.Glu645Asp) c.1992G>T (p.Glu664Asp) c.1941G>T (p.Glu647Asp) c.2046G>T (p.Glu682Asp) c.1953G>T (p.Glu651Asp) c.2052G>T (p.Glu684Asp) c.2082G>T (p.Glu694Asp) c.2073G>T (p.Glu691Asp) c.2043G>T (p.Glu681Asp) c.1986G>T (p.Glu662Asp) c.1932G>T (p.Glu644Asp) c.1725G>T (p.Glu575Asp) c.2139G>T (p.Glu713Asp) c.2133G>T (p.Glu711Asp) c.2130G>T (p.Glu710Asp) c.2190G>T (p.Glu730Asp) c.2181G>T (p.Glu727Asp) c.2100G>T (p.Glu700Asp) c.2049G>T (p.Glu683Asp) | |
14 | g.33800339T>A | CA389413608 | NPAS3 | c.2032T>A (p.Ser678Thr) c.2041T>A (p.Ser681Thr) c.1932T>A c.793+2758T>A c.1936T>A (p.Ser646Thr) c.1993T>A (p.Ser665Thr) c.1942T>A (p.Ser648Thr) c.2047T>A (p.Ser683Thr) c.1954T>A (p.Ser652Thr) c.2053T>A (p.Ser685Thr) c.2083T>A (p.Ser695Thr) c.2074T>A (p.Ser692Thr) c.2044T>A (p.Ser682Thr) c.1987T>A (p.Ser663Thr) c.1933T>A (p.Ser645Thr) c.1726T>A (p.Ser576Thr) c.2140T>A (p.Ser714Thr) c.2134T>A (p.Ser712Thr) c.2131T>A (p.Ser711Thr) c.2191T>A (p.Ser731Thr) c.2182T>A (p.Ser728Thr) c.2101T>A (p.Ser701Thr) c.2050T>A (p.Ser684Thr) | |
14 | g.33800339T>C | CA389413605 | NPAS3 | c.2032T>C (p.Ser678Pro) c.2041T>C (p.Ser681Pro) c.1932T>C c.793+2758T>C c.1936T>C (p.Ser646Pro) c.1993T>C (p.Ser665Pro) c.1942T>C (p.Ser648Pro) c.2047T>C (p.Ser683Pro) c.1954T>C (p.Ser652Pro) c.2053T>C (p.Ser685Pro) c.2083T>C (p.Ser695Pro) c.2074T>C (p.Ser692Pro) c.2044T>C (p.Ser682Pro) c.1987T>C (p.Ser663Pro) c.1933T>C (p.Ser645Pro) c.1726T>C (p.Ser576Pro) c.2140T>C (p.Ser714Pro) c.2134T>C (p.Ser712Pro) c.2131T>C (p.Ser711Pro) c.2191T>C (p.Ser731Pro) c.2182T>C (p.Ser728Pro) c.2101T>C (p.Ser701Pro) c.2050T>C (p.Ser684Pro) | |
14 | g.33800339T>G | CA389413607 | NPAS3 | c.2032T>G (p.Ser678Ala) c.2041T>G (p.Ser681Ala) c.1932T>G c.793+2758T>G c.1936T>G (p.Ser646Ala) c.1993T>G (p.Ser665Ala) c.1942T>G (p.Ser648Ala) c.2047T>G (p.Ser683Ala) c.1954T>G (p.Ser652Ala) c.2053T>G (p.Ser685Ala) c.2083T>G (p.Ser695Ala) c.2074T>G (p.Ser692Ala) c.2044T>G (p.Ser682Ala) c.1987T>G (p.Ser663Ala) c.1933T>G (p.Ser645Ala) c.1726T>G (p.Ser576Ala) c.2140T>G (p.Ser714Ala) c.2134T>G (p.Ser712Ala) c.2131T>G (p.Ser711Ala) c.2191T>G (p.Ser731Ala) c.2182T>G (p.Ser728Ala) c.2101T>G (p.Ser701Ala) c.2050T>G (p.Ser684Ala) | |
14 | g.33800340C>A | CA389413611 | NPAS3 | c.2033C>A (p.Ser678Tyr) c.2042C>A (p.Ser681Tyr) c.1933C>A c.793+2759C>A c.1937C>A (p.Ser646Tyr) c.1994C>A (p.Ser665Tyr) c.1943C>A (p.Ser648Tyr) c.2048C>A (p.Ser683Tyr) c.1955C>A (p.Ser652Tyr) c.2054C>A (p.Ser685Tyr) c.2084C>A (p.Ser695Tyr) c.2075C>A (p.Ser692Tyr) c.2045C>A (p.Ser682Tyr) c.1988C>A (p.Ser663Tyr) c.1934C>A (p.Ser645Tyr) c.1727C>A (p.Ser576Tyr) c.2141C>A (p.Ser714Tyr) c.2135C>A (p.Ser712Tyr) c.2132C>A (p.Ser711Tyr) c.2192C>A (p.Ser731Tyr) c.2183C>A (p.Ser728Tyr) c.2102C>A (p.Ser701Tyr) c.2051C>A (p.Ser684Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.33800340C= | CA2128327281 | NPAS3 | c.2033C= (p.Ser678=) c.2042C= (p.Ser681=) c.1933C= c.793+2759C= c.1937C= (p.Ser646=) c.1994C= (p.Ser665=) c.1943C= (p.Ser648=) c.2048C= (p.Ser683=) c.1955C= (p.Ser652=) c.2054C= (p.Ser685=) c.2084C= (p.Ser695=) c.2075C= (p.Ser692=) c.2045C= (p.Ser682=) c.1988C= (p.Ser663=) c.1934C= (p.Ser645=) c.1727C= (p.Ser576=) c.2141C= (p.Ser714=) c.2135C= (p.Ser712=) c.2132C= (p.Ser711=) c.2192C= (p.Ser731=) c.2183C= (p.Ser728=) c.2102C= (p.Ser701=) c.2051C= (p.Ser684=) | |
14 | g.33800340C>G | CA389413613 | NPAS3 | c.2033C>G (p.Ser678Cys) c.2042C>G (p.Ser681Cys) c.1933C>G c.793+2759C>G c.1937C>G (p.Ser646Cys) c.1994C>G (p.Ser665Cys) c.1943C>G (p.Ser648Cys) c.2048C>G (p.Ser683Cys) c.1955C>G (p.Ser652Cys) c.2054C>G (p.Ser685Cys) c.2084C>G (p.Ser695Cys) c.2075C>G (p.Ser692Cys) c.2045C>G (p.Ser682Cys) c.1988C>G (p.Ser663Cys) c.1934C>G (p.Ser645Cys) c.1727C>G (p.Ser576Cys) c.2141C>G (p.Ser714Cys) c.2135C>G (p.Ser712Cys) c.2132C>G (p.Ser711Cys) c.2192C>G (p.Ser731Cys) c.2183C>G (p.Ser728Cys) c.2102C>G (p.Ser701Cys) c.2051C>G (p.Ser684Cys) | |
14 | g.33800340C>T | CA7150925 | NPAS3 | c.2033C>T (p.Ser678Phe) c.2042C>T (p.Ser681Phe) c.1933C>T c.793+2759C>T c.1937C>T (p.Ser646Phe) c.1994C>T (p.Ser665Phe) c.1943C>T (p.Ser648Phe) c.2048C>T (p.Ser683Phe) c.1955C>T (p.Ser652Phe) c.2054C>T (p.Ser685Phe) c.2084C>T (p.Ser695Phe) c.2075C>T (p.Ser692Phe) c.2045C>T (p.Ser682Phe) c.1988C>T (p.Ser663Phe) c.1934C>T (p.Ser645Phe) c.1727C>T (p.Ser576Phe) c.2141C>T (p.Ser714Phe) c.2135C>T (p.Ser712Phe) c.2132C>T (p.Ser711Phe) c.2192C>T (p.Ser731Phe) c.2183C>T (p.Ser728Phe) c.2102C>T (p.Ser701Phe) c.2051C>T (p.Ser684Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.33800341C>A | CA486093031 | NPAS3 | c.2034C>A (p.Ser678=) c.2043C>A (p.Ser681=) c.1934C>A c.793+2760C>A c.1938C>A (p.Ser646=) c.1995C>A (p.Ser665=) c.1944C>A (p.Ser648=) c.2049C>A (p.Ser683=) c.1956C>A (p.Ser652=) c.2055C>A (p.Ser685=) c.2085C>A (p.Ser695=) c.2076C>A (p.Ser692=) c.2046C>A (p.Ser682=) c.1989C>A (p.Ser663=) c.1935C>A (p.Ser645=) c.1728C>A (p.Ser576=) c.2142C>A (p.Ser714=) c.2136C>A (p.Ser712=) c.2133C>A (p.Ser711=) c.2193C>A (p.Ser731=) c.2184C>A (p.Ser728=) c.2103C>A (p.Ser701=) c.2052C>A (p.Ser684=) | gnomAD v4 |
14 | g.33800341C>G | CA486093029 | NPAS3 | c.2034C>G (p.Ser678=) c.2043C>G (p.Ser681=) c.1934C>G c.793+2760C>G c.1938C>G (p.Ser646=) c.1995C>G (p.Ser665=) c.1944C>G (p.Ser648=) c.2049C>G (p.Ser683=) c.1956C>G (p.Ser652=) c.2055C>G (p.Ser685=) c.2085C>G (p.Ser695=) c.2076C>G (p.Ser692=) c.2046C>G (p.Ser682=) c.1989C>G (p.Ser663=) c.1935C>G (p.Ser645=) c.1728C>G (p.Ser576=) c.2142C>G (p.Ser714=) c.2136C>G (p.Ser712=) c.2133C>G (p.Ser711=) c.2193C>G (p.Ser731=) c.2184C>G (p.Ser728=) c.2103C>G (p.Ser701=) c.2052C>G (p.Ser684=) | |
14 | g.33800341C>T | CA486093030 | NPAS3 | c.2034C>T (p.Ser678=) c.2043C>T (p.Ser681=) c.1934C>T c.793+2760C>T c.1938C>T (p.Ser646=) c.1995C>T (p.Ser665=) c.1944C>T (p.Ser648=) c.2049C>T (p.Ser683=) c.1956C>T (p.Ser652=) c.2055C>T (p.Ser685=) c.2085C>T (p.Ser695=) c.2076C>T (p.Ser692=) c.2046C>T (p.Ser682=) c.1989C>T (p.Ser663=) c.1935C>T (p.Ser645=) c.1728C>T (p.Ser576=) c.2142C>T (p.Ser714=) c.2136C>T (p.Ser712=) c.2133C>T (p.Ser711=) c.2193C>T (p.Ser731=) c.2184C>T (p.Ser728=) c.2103C>T (p.Ser701=) c.2052C>T (p.Ser684=) | gnomAD v4 |
14 | g.33800342C>A | CA389413616 | NPAS3 | c.2035C>A (p.Pro679Thr) c.2044C>A (p.Pro682Thr) c.1935C>A c.793+2761C>A c.1939C>A (p.Pro647Thr) c.1996C>A (p.Pro666Thr) c.1945C>A (p.Pro649Thr) c.2050C>A (p.Pro684Thr) c.1957C>A (p.Pro653Thr) c.2056C>A (p.Pro686Thr) c.2086C>A (p.Pro696Thr) c.2077C>A (p.Pro693Thr) c.2047C>A (p.Pro683Thr) c.1990C>A (p.Pro664Thr) c.1936C>A (p.Pro646Thr) c.1729C>A (p.Pro577Thr) c.2143C>A (p.Pro715Thr) c.2137C>A (p.Pro713Thr) c.2134C>A (p.Pro712Thr) c.2194C>A (p.Pro732Thr) c.2185C>A (p.Pro729Thr) c.2104C>A (p.Pro702Thr) c.2053C>A (p.Pro685Thr) | |
14 | g.33800342C>G | CA389413617 | NPAS3 | c.2035C>G (p.Pro679Ala) c.2044C>G (p.Pro682Ala) c.1935C>G c.793+2761C>G c.1939C>G (p.Pro647Ala) c.1996C>G (p.Pro666Ala) c.1945C>G (p.Pro649Ala) c.2050C>G (p.Pro684Ala) c.1957C>G (p.Pro653Ala) c.2056C>G (p.Pro686Ala) c.2086C>G (p.Pro696Ala) c.2077C>G (p.Pro693Ala) c.2047C>G (p.Pro683Ala) c.1990C>G (p.Pro664Ala) c.1936C>G (p.Pro646Ala) c.1729C>G (p.Pro577Ala) c.2143C>G (p.Pro715Ala) c.2137C>G (p.Pro713Ala) c.2134C>G (p.Pro712Ala) c.2194C>G (p.Pro732Ala) c.2185C>G (p.Pro729Ala) c.2104C>G (p.Pro702Ala) c.2053C>G (p.Pro685Ala) | |
14 | g.33800342C>T | CA389413619 | NPAS3 | c.2035C>T (p.Pro679Ser) c.2044C>T (p.Pro682Ser) c.1935C>T c.793+2761C>T c.1939C>T (p.Pro647Ser) c.1996C>T (p.Pro666Ser) c.1945C>T (p.Pro649Ser) c.2050C>T (p.Pro684Ser) c.1957C>T (p.Pro653Ser) c.2056C>T (p.Pro686Ser) c.2086C>T (p.Pro696Ser) c.2077C>T (p.Pro693Ser) c.2047C>T (p.Pro683Ser) c.1990C>T (p.Pro664Ser) c.1936C>T (p.Pro646Ser) c.1729C>T (p.Pro577Ser) c.2143C>T (p.Pro715Ser) c.2137C>T (p.Pro713Ser) c.2134C>T (p.Pro712Ser) c.2194C>T (p.Pro732Ser) c.2185C>T (p.Pro729Ser) c.2104C>T (p.Pro702Ser) c.2053C>T (p.Pro685Ser) | |
14 | g.33800343C>A | CA389413621 | NPAS3 | c.2036C>A (p.Pro679His) c.2045C>A (p.Pro682His) c.1936C>A c.793+2762C>A c.1940C>A (p.Pro647His) c.1997C>A (p.Pro666His) c.1946C>A (p.Pro649His) c.2051C>A (p.Pro684His) c.1958C>A (p.Pro653His) c.2057C>A (p.Pro686His) c.2087C>A (p.Pro696His) c.2078C>A (p.Pro693His) c.2048C>A (p.Pro683His) c.1991C>A (p.Pro664His) c.1937C>A (p.Pro646His) c.1730C>A (p.Pro577His) c.2144C>A (p.Pro715His) c.2138C>A (p.Pro713His) c.2135C>A (p.Pro712His) c.2195C>A (p.Pro732His) c.2186C>A (p.Pro729His) c.2105C>A (p.Pro702His) c.2054C>A (p.Pro685His) | |
14 | g.33800343C>G | CA389413623 | NPAS3 | c.2036C>G (p.Pro679Arg) c.2045C>G (p.Pro682Arg) c.1936C>G c.793+2762C>G c.1940C>G (p.Pro647Arg) c.1997C>G (p.Pro666Arg) c.1946C>G (p.Pro649Arg) c.2051C>G (p.Pro684Arg) c.1958C>G (p.Pro653Arg) c.2057C>G (p.Pro686Arg) c.2087C>G (p.Pro696Arg) c.2078C>G (p.Pro693Arg) c.2048C>G (p.Pro683Arg) c.1991C>G (p.Pro664Arg) c.1937C>G (p.Pro646Arg) c.1730C>G (p.Pro577Arg) c.2144C>G (p.Pro715Arg) c.2138C>G (p.Pro713Arg) c.2135C>G (p.Pro712Arg) c.2195C>G (p.Pro732Arg) c.2186C>G (p.Pro729Arg) c.2105C>G (p.Pro702Arg) c.2054C>G (p.Pro685Arg) | gnomAD v4 |
14 | g.33800343C>T | CA389413625 | NPAS3 | c.2036C>T (p.Pro679Leu) c.2045C>T (p.Pro682Leu) c.1936C>T c.793+2762C>T c.1940C>T (p.Pro647Leu) c.1997C>T (p.Pro666Leu) c.1946C>T (p.Pro649Leu) c.2051C>T (p.Pro684Leu) c.1958C>T (p.Pro653Leu) c.2057C>T (p.Pro686Leu) c.2087C>T (p.Pro696Leu) c.2078C>T (p.Pro693Leu) c.2048C>T (p.Pro683Leu) c.1991C>T (p.Pro664Leu) c.1937C>T (p.Pro646Leu) c.1730C>T (p.Pro577Leu) c.2144C>T (p.Pro715Leu) c.2138C>T (p.Pro713Leu) c.2135C>T (p.Pro712Leu) c.2195C>T (p.Pro732Leu) c.2186C>T (p.Pro729Leu) c.2105C>T (p.Pro702Leu) c.2054C>T (p.Pro685Leu) | gnomAD v4 |
14 | g.33800344C>A | CA7150926 | NPAS3 | c.2037C>A (p.Pro679=) c.2046C>A (p.Pro682=) c.1937C>A c.793+2763C>A c.1941C>A (p.Pro647=) c.1998C>A (p.Pro666=) c.1947C>A (p.Pro649=) c.2052C>A (p.Pro684=) c.1959C>A (p.Pro653=) c.2058C>A (p.Pro686=) c.2088C>A (p.Pro696=) c.2079C>A (p.Pro693=) c.2049C>A (p.Pro683=) c.1992C>A (p.Pro664=) c.1938C>A (p.Pro646=) c.1731C>A (p.Pro577=) c.2145C>A (p.Pro715=) c.2139C>A (p.Pro713=) c.2136C>A (p.Pro712=) c.2196C>A (p.Pro732=) c.2187C>A (p.Pro729=) c.2106C>A (p.Pro702=) c.2055C>A (p.Pro685=) | dbSNP ExAC gnomAD v2 |
14 | g.33800344C= | CA2128327286 | NPAS3 | c.2037C= (p.Pro679=) c.2046C= (p.Pro682=) c.1937C= c.793+2763C= c.1941C= (p.Pro647=) c.1998C= (p.Pro666=) c.1947C= (p.Pro649=) c.2052C= (p.Pro684=) c.1959C= (p.Pro653=) c.2058C= (p.Pro686=) c.2088C= (p.Pro696=) c.2079C= (p.Pro693=) c.2049C= (p.Pro683=) c.1992C= (p.Pro664=) c.1938C= (p.Pro646=) c.1731C= (p.Pro577=) c.2145C= (p.Pro715=) c.2139C= (p.Pro713=) c.2136C= (p.Pro712=) c.2196C= (p.Pro732=) c.2187C= (p.Pro729=) c.2106C= (p.Pro702=) c.2055C= (p.Pro685=) | |
14 | g.33800344C>G | CA486093032 | NPAS3 | c.2037C>G (p.Pro679=) c.2046C>G (p.Pro682=) c.1937C>G c.793+2763C>G c.1941C>G (p.Pro647=) c.1998C>G (p.Pro666=) c.1947C>G (p.Pro649=) c.2052C>G (p.Pro684=) c.1959C>G (p.Pro653=) c.2058C>G (p.Pro686=) c.2088C>G (p.Pro696=) c.2079C>G (p.Pro693=) c.2049C>G (p.Pro683=) c.1992C>G (p.Pro664=) c.1938C>G (p.Pro646=) c.1731C>G (p.Pro577=) c.2145C>G (p.Pro715=) c.2139C>G (p.Pro713=) c.2136C>G (p.Pro712=) c.2196C>G (p.Pro732=) c.2187C>G (p.Pro729=) c.2106C>G (p.Pro702=) c.2055C>G (p.Pro685=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800344C>T | CA486093033 | NPAS3 | c.2037C>T (p.Pro679=) c.2046C>T (p.Pro682=) c.1937C>T c.793+2763C>T c.1941C>T (p.Pro647=) c.1998C>T (p.Pro666=) c.1947C>T (p.Pro649=) c.2052C>T (p.Pro684=) c.1959C>T (p.Pro653=) c.2058C>T (p.Pro686=) c.2088C>T (p.Pro696=) c.2079C>T (p.Pro693=) c.2049C>T (p.Pro683=) c.1992C>T (p.Pro664=) c.1938C>T (p.Pro646=) c.1731C>T (p.Pro577=) c.2145C>T (p.Pro715=) c.2139C>T (p.Pro713=) c.2136C>T (p.Pro712=) c.2196C>T (p.Pro732=) c.2187C>T (p.Pro729=) c.2106C>T (p.Pro702=) c.2055C>T (p.Pro685=) | gnomAD v4 |
14 | g.33800345T>A | CA389413632 | NPAS3 | c.2038T>A (p.Tyr680Asn) c.2047T>A (p.Tyr683Asn) c.1938T>A c.793+2764T>A c.1942T>A (p.Tyr648Asn) c.1999T>A (p.Tyr667Asn) c.1948T>A (p.Tyr650Asn) c.2053T>A (p.Tyr685Asn) c.1960T>A (p.Tyr654Asn) c.2059T>A (p.Tyr687Asn) c.2089T>A (p.Tyr697Asn) c.2080T>A (p.Tyr694Asn) c.2050T>A (p.Tyr684Asn) c.1993T>A (p.Tyr665Asn) c.1939T>A (p.Tyr647Asn) c.1732T>A (p.Tyr578Asn) c.2146T>A (p.Tyr716Asn) c.2140T>A (p.Tyr714Asn) c.2137T>A (p.Tyr713Asn) c.2197T>A (p.Tyr733Asn) c.2188T>A (p.Tyr730Asn) c.2107T>A (p.Tyr703Asn) c.2056T>A (p.Tyr686Asn) | |
14 | g.33800345T>C | CA258719052 | NPAS3 | c.2038T>C (p.Tyr680His) c.2047T>C (p.Tyr683His) c.1938T>C c.793+2764T>C c.1942T>C (p.Tyr648His) c.1999T>C (p.Tyr667His) c.1948T>C (p.Tyr650His) c.2053T>C (p.Tyr685His) c.1960T>C (p.Tyr654His) c.2059T>C (p.Tyr687His) c.2089T>C (p.Tyr697His) c.2080T>C (p.Tyr694His) c.2050T>C (p.Tyr684His) c.1993T>C (p.Tyr665His) c.1939T>C (p.Tyr647His) c.1732T>C (p.Tyr578His) c.2146T>C (p.Tyr716His) c.2140T>C (p.Tyr714His) c.2137T>C (p.Tyr713His) c.2197T>C (p.Tyr733His) c.2188T>C (p.Tyr730His) c.2107T>C (p.Tyr703His) c.2056T>C (p.Tyr686His) | dbSNP |
14 | g.33800345T>G | CA389413630 | NPAS3 | c.2038T>G (p.Tyr680Asp) c.2047T>G (p.Tyr683Asp) c.1938T>G c.793+2764T>G c.1942T>G (p.Tyr648Asp) c.1999T>G (p.Tyr667Asp) c.1948T>G (p.Tyr650Asp) c.2053T>G (p.Tyr685Asp) c.1960T>G (p.Tyr654Asp) c.2059T>G (p.Tyr687Asp) c.2089T>G (p.Tyr697Asp) c.2080T>G (p.Tyr694Asp) c.2050T>G (p.Tyr684Asp) c.1993T>G (p.Tyr665Asp) c.1939T>G (p.Tyr647Asp) c.1732T>G (p.Tyr578Asp) c.2146T>G (p.Tyr716Asp) c.2140T>G (p.Tyr714Asp) c.2137T>G (p.Tyr713Asp) c.2197T>G (p.Tyr733Asp) c.2188T>G (p.Tyr730Asp) c.2107T>G (p.Tyr703Asp) c.2056T>G (p.Tyr686Asp) | |
14 | g.33800345T= | CA2128327290 | NPAS3 | c.2038T= (p.Tyr680=) c.2047T= (p.Tyr683=) c.1938T= c.793+2764T= c.1942T= (p.Tyr648=) c.1999T= (p.Tyr667=) c.1948T= (p.Tyr650=) c.2053T= (p.Tyr685=) c.1960T= (p.Tyr654=) c.2059T= (p.Tyr687=) c.2089T= (p.Tyr697=) c.2080T= (p.Tyr694=) c.2050T= (p.Tyr684=) c.1993T= (p.Tyr665=) c.1939T= (p.Tyr647=) c.1732T= (p.Tyr578=) c.2146T= (p.Tyr716=) c.2140T= (p.Tyr714=) c.2137T= (p.Tyr713=) c.2197T= (p.Tyr733=) c.2188T= (p.Tyr730=) c.2107T= (p.Tyr703=) c.2056T= (p.Tyr686=) | |
14 | g.33800346A= | CA2128327292 | NPAS3 | c.2039A= (p.Tyr680=) c.2048A= (p.Tyr683=) c.1939A= c.793+2765A= c.1943A= (p.Tyr648=) c.2000A= (p.Tyr667=) c.1949A= (p.Tyr650=) c.2054A= (p.Tyr685=) c.1961A= (p.Tyr654=) c.2060A= (p.Tyr687=) c.2090A= (p.Tyr697=) c.2081A= (p.Tyr694=) c.2051A= (p.Tyr684=) c.1994A= (p.Tyr665=) c.1940A= (p.Tyr647=) c.1733A= (p.Tyr578=) c.2147A= (p.Tyr716=) c.2141A= (p.Tyr714=) c.2138A= (p.Tyr713=) c.2198A= (p.Tyr733=) c.2189A= (p.Tyr730=) c.2108A= (p.Tyr703=) c.2057A= (p.Tyr686=) | |
14 | g.33800346A>C | CA389413634 | NPAS3 | c.2039A>C (p.Tyr680Ser) c.2048A>C (p.Tyr683Ser) c.1939A>C c.793+2765A>C c.1943A>C (p.Tyr648Ser) c.2000A>C (p.Tyr667Ser) c.1949A>C (p.Tyr650Ser) c.2054A>C (p.Tyr685Ser) c.1961A>C (p.Tyr654Ser) c.2060A>C (p.Tyr687Ser) c.2090A>C (p.Tyr697Ser) c.2081A>C (p.Tyr694Ser) c.2051A>C (p.Tyr684Ser) c.1994A>C (p.Tyr665Ser) c.1940A>C (p.Tyr647Ser) c.1733A>C (p.Tyr578Ser) c.2147A>C (p.Tyr716Ser) c.2141A>C (p.Tyr714Ser) c.2138A>C (p.Tyr713Ser) c.2198A>C (p.Tyr733Ser) c.2189A>C (p.Tyr730Ser) c.2108A>C (p.Tyr703Ser) c.2057A>C (p.Tyr686Ser) | |
14 | g.33800346A>G | CA389413636 | NPAS3 | c.2039A>G (p.Tyr680Cys) c.2048A>G (p.Tyr683Cys) c.1939A>G c.793+2765A>G c.1943A>G (p.Tyr648Cys) c.2000A>G (p.Tyr667Cys) c.1949A>G (p.Tyr650Cys) c.2054A>G (p.Tyr685Cys) c.1961A>G (p.Tyr654Cys) c.2060A>G (p.Tyr687Cys) c.2090A>G (p.Tyr697Cys) c.2081A>G (p.Tyr694Cys) c.2051A>G (p.Tyr684Cys) c.1994A>G (p.Tyr665Cys) c.1940A>G (p.Tyr647Cys) c.1733A>G (p.Tyr578Cys) c.2147A>G (p.Tyr716Cys) c.2141A>G (p.Tyr714Cys) c.2138A>G (p.Tyr713Cys) c.2198A>G (p.Tyr733Cys) c.2189A>G (p.Tyr730Cys) c.2108A>G (p.Tyr703Cys) c.2057A>G (p.Tyr686Cys) | dbSNP gnomAD v4 |
14 | g.33800346A>T | CA389413638 | NPAS3 | c.2039A>T (p.Tyr680Phe) c.2048A>T (p.Tyr683Phe) c.1939A>T c.793+2765A>T c.1943A>T (p.Tyr648Phe) c.2000A>T (p.Tyr667Phe) c.1949A>T (p.Tyr650Phe) c.2054A>T (p.Tyr685Phe) c.1961A>T (p.Tyr654Phe) c.2060A>T (p.Tyr687Phe) c.2090A>T (p.Tyr697Phe) c.2081A>T (p.Tyr694Phe) c.2051A>T (p.Tyr684Phe) c.1994A>T (p.Tyr665Phe) c.1940A>T (p.Tyr647Phe) c.1733A>T (p.Tyr578Phe) c.2147A>T (p.Tyr716Phe) c.2141A>T (p.Tyr714Phe) c.2138A>T (p.Tyr713Phe) c.2198A>T (p.Tyr733Phe) c.2189A>T (p.Tyr730Phe) c.2108A>T (p.Tyr703Phe) c.2057A>T (p.Tyr686Phe) | |
14 | g.33800347C>A | CA389413640 | NPAS3 | c.2040C>A (p.Tyr680Ter) c.2049C>A (p.Tyr683Ter) c.1940C>A c.793+2766C>A c.1944C>A (p.Tyr648Ter) c.2001C>A (p.Tyr667Ter) c.1950C>A (p.Tyr650Ter) c.2055C>A (p.Tyr685Ter) c.1962C>A (p.Tyr654Ter) c.2061C>A (p.Tyr687Ter) c.2091C>A (p.Tyr697Ter) c.2082C>A (p.Tyr694Ter) c.2052C>A (p.Tyr684Ter) c.1995C>A (p.Tyr665Ter) c.1941C>A (p.Tyr647Ter) c.1734C>A (p.Tyr578Ter) c.2148C>A (p.Tyr716Ter) c.2142C>A (p.Tyr714Ter) c.2139C>A (p.Tyr713Ter) c.2199C>A (p.Tyr733Ter) c.2190C>A (p.Tyr730Ter) c.2109C>A (p.Tyr703Ter) c.2058C>A (p.Tyr686Ter) | |
14 | g.33800347C>G | CA389413642 | NPAS3 | c.2040C>G (p.Tyr680Ter) c.2049C>G (p.Tyr683Ter) c.1940C>G c.793+2766C>G c.1944C>G (p.Tyr648Ter) c.2001C>G (p.Tyr667Ter) c.1950C>G (p.Tyr650Ter) c.2055C>G (p.Tyr685Ter) c.1962C>G (p.Tyr654Ter) c.2061C>G (p.Tyr687Ter) c.2091C>G (p.Tyr697Ter) c.2082C>G (p.Tyr694Ter) c.2052C>G (p.Tyr684Ter) c.1995C>G (p.Tyr665Ter) c.1941C>G (p.Tyr647Ter) c.1734C>G (p.Tyr578Ter) c.2148C>G (p.Tyr716Ter) c.2142C>G (p.Tyr714Ter) c.2139C>G (p.Tyr713Ter) c.2199C>G (p.Tyr733Ter) c.2190C>G (p.Tyr730Ter) c.2109C>G (p.Tyr703Ter) c.2058C>G (p.Tyr686Ter) | gnomAD v4 |
14 | g.33800347C>T | CA486093034 | NPAS3 | c.2040C>T (p.Tyr680=) c.2049C>T (p.Tyr683=) c.1940C>T c.793+2766C>T c.1944C>T (p.Tyr648=) c.2001C>T (p.Tyr667=) c.1950C>T (p.Tyr650=) c.2055C>T (p.Tyr685=) c.1962C>T (p.Tyr654=) c.2061C>T (p.Tyr687=) c.2091C>T (p.Tyr697=) c.2082C>T (p.Tyr694=) c.2052C>T (p.Tyr684=) c.1995C>T (p.Tyr665=) c.1941C>T (p.Tyr647=) c.1734C>T (p.Tyr578=) c.2148C>T (p.Tyr716=) c.2142C>T (p.Tyr714=) c.2139C>T (p.Tyr713=) c.2199C>T (p.Tyr733=) c.2190C>T (p.Tyr730=) c.2109C>T (p.Tyr703=) c.2058C>T (p.Tyr686=) | |
14 | g.33800348A>C | CA389413645 | NPAS3 | c.2041A>C (p.Ser681Arg) c.2050A>C (p.Ser684Arg) c.1941A>C c.793+2767A>C c.1945A>C (p.Ser649Arg) c.2002A>C (p.Ser668Arg) c.1951A>C (p.Ser651Arg) c.2056A>C (p.Ser686Arg) c.1963A>C (p.Ser655Arg) c.2062A>C (p.Ser688Arg) c.2092A>C (p.Ser698Arg) c.2083A>C (p.Ser695Arg) c.2053A>C (p.Ser685Arg) c.1996A>C (p.Ser666Arg) c.1942A>C (p.Ser648Arg) c.1735A>C (p.Ser579Arg) c.2149A>C (p.Ser717Arg) c.2143A>C (p.Ser715Arg) c.2140A>C (p.Ser714Arg) c.2200A>C (p.Ser734Arg) c.2191A>C (p.Ser731Arg) c.2110A>C (p.Ser704Arg) c.2059A>C (p.Ser687Arg) | COSMIC COSMIC |
14 | g.33800348A>G | CA389413646 | NPAS3 | c.2041A>G (p.Ser681Gly) c.2050A>G (p.Ser684Gly) c.1941A>G c.793+2767A>G c.1945A>G (p.Ser649Gly) c.2002A>G (p.Ser668Gly) c.1951A>G (p.Ser651Gly) c.2056A>G (p.Ser686Gly) c.1963A>G (p.Ser655Gly) c.2062A>G (p.Ser688Gly) c.2092A>G (p.Ser698Gly) c.2083A>G (p.Ser695Gly) c.2053A>G (p.Ser685Gly) c.1996A>G (p.Ser666Gly) c.1942A>G (p.Ser648Gly) c.1735A>G (p.Ser579Gly) c.2149A>G (p.Ser717Gly) c.2143A>G (p.Ser715Gly) c.2140A>G (p.Ser714Gly) c.2200A>G (p.Ser734Gly) c.2191A>G (p.Ser731Gly) c.2110A>G (p.Ser704Gly) c.2059A>G (p.Ser687Gly) | |
14 | g.33800348A>T | CA389413649 | NPAS3 | c.2041A>T (p.Ser681Cys) c.2050A>T (p.Ser684Cys) c.1941A>T c.793+2767A>T c.1945A>T (p.Ser649Cys) c.2002A>T (p.Ser668Cys) c.1951A>T (p.Ser651Cys) c.2056A>T (p.Ser686Cys) c.1963A>T (p.Ser655Cys) c.2062A>T (p.Ser688Cys) c.2092A>T (p.Ser698Cys) c.2083A>T (p.Ser695Cys) c.2053A>T (p.Ser685Cys) c.1996A>T (p.Ser666Cys) c.1942A>T (p.Ser648Cys) c.1735A>T (p.Ser579Cys) c.2149A>T (p.Ser717Cys) c.2143A>T (p.Ser715Cys) c.2140A>T (p.Ser714Cys) c.2200A>T (p.Ser734Cys) c.2191A>T (p.Ser731Cys) c.2110A>T (p.Ser704Cys) c.2059A>T (p.Ser687Cys) | |
14 | g.33800349G>A | CA389413651 | NPAS3 | c.2042G>A (p.Ser681Asn) c.2051G>A (p.Ser684Asn) c.1942G>A c.793+2768G>A c.1946G>A (p.Ser649Asn) c.2003G>A (p.Ser668Asn) c.1952G>A (p.Ser651Asn) c.2057G>A (p.Ser686Asn) c.1964G>A (p.Ser655Asn) c.2063G>A (p.Ser688Asn) c.2093G>A (p.Ser698Asn) c.2084G>A (p.Ser695Asn) c.2054G>A (p.Ser685Asn) c.1997G>A (p.Ser666Asn) c.1943G>A (p.Ser648Asn) c.1736G>A (p.Ser579Asn) c.2150G>A (p.Ser717Asn) c.2144G>A (p.Ser715Asn) c.2141G>A (p.Ser714Asn) c.2201G>A (p.Ser734Asn) c.2192G>A (p.Ser731Asn) c.2111G>A (p.Ser704Asn) c.2060G>A (p.Ser687Asn) | |
14 | g.33800349G>C | CA389413652 | NPAS3 | c.2042G>C (p.Ser681Thr) c.2051G>C (p.Ser684Thr) c.1942G>C c.793+2768G>C c.1946G>C (p.Ser649Thr) c.2003G>C (p.Ser668Thr) c.1952G>C (p.Ser651Thr) c.2057G>C (p.Ser686Thr) c.1964G>C (p.Ser655Thr) c.2063G>C (p.Ser688Thr) c.2093G>C (p.Ser698Thr) c.2084G>C (p.Ser695Thr) c.2054G>C (p.Ser685Thr) c.1997G>C (p.Ser666Thr) c.1943G>C (p.Ser648Thr) c.1736G>C (p.Ser579Thr) c.2150G>C (p.Ser717Thr) c.2144G>C (p.Ser715Thr) c.2141G>C (p.Ser714Thr) c.2201G>C (p.Ser734Thr) c.2192G>C (p.Ser731Thr) c.2111G>C (p.Ser704Thr) c.2060G>C (p.Ser687Thr) | |
14 | g.33800349G>T | CA389413654 | NPAS3 | c.2042G>T (p.Ser681Ile) c.2051G>T (p.Ser684Ile) c.1942G>T c.793+2768G>T c.1946G>T (p.Ser649Ile) c.2003G>T (p.Ser668Ile) c.1952G>T (p.Ser651Ile) c.2057G>T (p.Ser686Ile) c.1964G>T (p.Ser655Ile) c.2063G>T (p.Ser688Ile) c.2093G>T (p.Ser698Ile) c.2084G>T (p.Ser695Ile) c.2054G>T (p.Ser685Ile) c.1997G>T (p.Ser666Ile) c.1943G>T (p.Ser648Ile) c.1736G>T (p.Ser579Ile) c.2150G>T (p.Ser717Ile) c.2144G>T (p.Ser715Ile) c.2141G>T (p.Ser714Ile) c.2201G>T (p.Ser734Ile) c.2192G>T (p.Ser731Ile) c.2111G>T (p.Ser704Ile) c.2060G>T (p.Ser687Ile) | |
14 | g.33800350C>A | CA389413658 | NPAS3 | c.2043C>A (p.Ser681Arg) c.2052C>A (p.Ser684Arg) c.1943C>A c.793+2769C>A c.1947C>A (p.Ser649Arg) c.2004C>A (p.Ser668Arg) c.1953C>A (p.Ser651Arg) c.2058C>A (p.Ser686Arg) c.1965C>A (p.Ser655Arg) c.2064C>A (p.Ser688Arg) c.2094C>A (p.Ser698Arg) c.2085C>A (p.Ser695Arg) c.2055C>A (p.Ser685Arg) c.1998C>A (p.Ser666Arg) c.1944C>A (p.Ser648Arg) c.1737C>A (p.Ser579Arg) c.2151C>A (p.Ser717Arg) c.2145C>A (p.Ser715Arg) c.2142C>A (p.Ser714Arg) c.2202C>A (p.Ser734Arg) c.2193C>A (p.Ser731Arg) c.2112C>A (p.Ser704Arg) c.2061C>A (p.Ser687Arg) | |
14 | g.33800350C>G | CA389413656 | NPAS3 | c.2043C>G (p.Ser681Arg) c.2052C>G (p.Ser684Arg) c.1943C>G c.793+2769C>G c.1947C>G (p.Ser649Arg) c.2004C>G (p.Ser668Arg) c.1953C>G (p.Ser651Arg) c.2058C>G (p.Ser686Arg) c.1965C>G (p.Ser655Arg) c.2064C>G (p.Ser688Arg) c.2094C>G (p.Ser698Arg) c.2085C>G (p.Ser695Arg) c.2055C>G (p.Ser685Arg) c.1998C>G (p.Ser666Arg) c.1944C>G (p.Ser648Arg) c.1737C>G (p.Ser579Arg) c.2151C>G (p.Ser717Arg) c.2145C>G (p.Ser715Arg) c.2142C>G (p.Ser714Arg) c.2202C>G (p.Ser734Arg) c.2193C>G (p.Ser731Arg) c.2112C>G (p.Ser704Arg) c.2061C>G (p.Ser687Arg) | |
14 | g.33800350C>T | CA486093036 | NPAS3 | c.2043C>T (p.Ser681=) c.2052C>T (p.Ser684=) c.1943C>T c.793+2769C>T c.1947C>T (p.Ser649=) c.2004C>T (p.Ser668=) c.1953C>T (p.Ser651=) c.2058C>T (p.Ser686=) c.1965C>T (p.Ser655=) c.2064C>T (p.Ser688=) c.2094C>T (p.Ser698=) c.2085C>T (p.Ser695=) c.2055C>T (p.Ser685=) c.1998C>T (p.Ser666=) c.1944C>T (p.Ser648=) c.1737C>T (p.Ser579=) c.2151C>T (p.Ser717=) c.2145C>T (p.Ser715=) c.2142C>T (p.Ser714=) c.2202C>T (p.Ser734=) c.2193C>T (p.Ser731=) c.2112C>T (p.Ser704=) c.2061C>T (p.Ser687=) | |
14 | g.33800351A= | CA2128327294 | NPAS3 | c.2044A= (p.Met682=) c.2053A= (p.Met685=) c.1944A= c.793+2770A= c.1948A= (p.Met650=) c.2005A= (p.Met669=) c.1954A= (p.Met652=) c.2059A= (p.Met687=) c.1966A= (p.Met656=) c.2065A= (p.Met689=) c.2095A= (p.Met699=) c.2086A= (p.Met696=) c.2056A= (p.Met686=) c.1999A= (p.Met667=) c.1945A= (p.Met649=) c.1738A= (p.Met580=) c.2152A= (p.Met718=) c.2146A= (p.Met716=) c.2143A= (p.Met715=) c.2203A= (p.Met735=) c.2194A= (p.Met732=) c.2113A= (p.Met705=) c.2062A= (p.Met688=) | |
14 | g.33800351A>C | CA389413661 | NPAS3 | c.2044A>C (p.Met682Leu) c.2053A>C (p.Met685Leu) c.1944A>C c.793+2770A>C c.1948A>C (p.Met650Leu) c.2005A>C (p.Met669Leu) c.1954A>C (p.Met652Leu) c.2059A>C (p.Met687Leu) c.1966A>C (p.Met656Leu) c.2065A>C (p.Met689Leu) c.2095A>C (p.Met699Leu) c.2086A>C (p.Met696Leu) c.2056A>C (p.Met686Leu) c.1999A>C (p.Met667Leu) c.1945A>C (p.Met649Leu) c.1738A>C (p.Met580Leu) c.2152A>C (p.Met718Leu) c.2146A>C (p.Met716Leu) c.2143A>C (p.Met715Leu) c.2203A>C (p.Met735Leu) c.2194A>C (p.Met732Leu) c.2113A>C (p.Met705Leu) c.2062A>C (p.Met688Leu) | |
14 | g.33800351A>G | CA389413662 | NPAS3 | c.2044A>G (p.Met682Val) c.2053A>G (p.Met685Val) c.1944A>G c.793+2770A>G c.1948A>G (p.Met650Val) c.2005A>G (p.Met669Val) c.1954A>G (p.Met652Val) c.2059A>G (p.Met687Val) c.1966A>G (p.Met656Val) c.2065A>G (p.Met689Val) c.2095A>G (p.Met699Val) c.2086A>G (p.Met696Val) c.2056A>G (p.Met686Val) c.1999A>G (p.Met667Val) c.1945A>G (p.Met649Val) c.1738A>G (p.Met580Val) c.2152A>G (p.Met718Val) c.2146A>G (p.Met716Val) c.2143A>G (p.Met715Val) c.2203A>G (p.Met735Val) c.2194A>G (p.Met732Val) c.2113A>G (p.Met705Val) c.2062A>G (p.Met688Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800351A>T | CA389413664 | NPAS3 | c.2044A>T (p.Met682Leu) c.2053A>T (p.Met685Leu) c.1944A>T c.793+2770A>T c.1948A>T (p.Met650Leu) c.2005A>T (p.Met669Leu) c.1954A>T (p.Met652Leu) c.2059A>T (p.Met687Leu) c.1966A>T (p.Met656Leu) c.2065A>T (p.Met689Leu) c.2095A>T (p.Met699Leu) c.2086A>T (p.Met696Leu) c.2056A>T (p.Met686Leu) c.1999A>T (p.Met667Leu) c.1945A>T (p.Met649Leu) c.1738A>T (p.Met580Leu) c.2152A>T (p.Met718Leu) c.2146A>T (p.Met716Leu) c.2143A>T (p.Met715Leu) c.2203A>T (p.Met735Leu) c.2194A>T (p.Met732Leu) c.2113A>T (p.Met705Leu) c.2062A>T (p.Met688Leu) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.33800352T>A | CA389413666 | NPAS3 | c.2045T>A (p.Met682Lys) c.2054T>A (p.Met685Lys) c.1945T>A c.793+2771T>A c.1949T>A (p.Met650Lys) c.2006T>A (p.Met669Lys) c.1955T>A (p.Met652Lys) c.2060T>A (p.Met687Lys) c.1967T>A (p.Met656Lys) c.2066T>A (p.Met689Lys) c.2096T>A (p.Met699Lys) c.2087T>A (p.Met696Lys) c.2057T>A (p.Met686Lys) c.2000T>A (p.Met667Lys) c.1946T>A (p.Met649Lys) c.1739T>A (p.Met580Lys) c.2153T>A (p.Met718Lys) c.2147T>A (p.Met716Lys) c.2144T>A (p.Met715Lys) c.2204T>A (p.Met735Lys) c.2195T>A (p.Met732Lys) c.2114T>A (p.Met705Lys) c.2063T>A (p.Met688Lys) | |
14 | g.33800352T>C | CA389413668 | NPAS3 | c.2045T>C (p.Met682Thr) c.2054T>C (p.Met685Thr) c.1945T>C c.793+2771T>C c.1949T>C (p.Met650Thr) c.2006T>C (p.Met669Thr) c.1955T>C (p.Met652Thr) c.2060T>C (p.Met687Thr) c.1967T>C (p.Met656Thr) c.2066T>C (p.Met689Thr) c.2096T>C (p.Met699Thr) c.2087T>C (p.Met696Thr) c.2057T>C (p.Met686Thr) c.2000T>C (p.Met667Thr) c.1946T>C (p.Met649Thr) c.1739T>C (p.Met580Thr) c.2153T>C (p.Met718Thr) c.2147T>C (p.Met716Thr) c.2144T>C (p.Met715Thr) c.2204T>C (p.Met735Thr) c.2195T>C (p.Met732Thr) c.2114T>C (p.Met705Thr) c.2063T>C (p.Met688Thr) | |
14 | g.33800352T>G | CA389413670 | NPAS3 | c.2045T>G (p.Met682Arg) c.2054T>G (p.Met685Arg) c.1945T>G c.793+2771T>G c.1949T>G (p.Met650Arg) c.2006T>G (p.Met669Arg) c.1955T>G (p.Met652Arg) c.2060T>G (p.Met687Arg) c.1967T>G (p.Met656Arg) c.2066T>G (p.Met689Arg) c.2096T>G (p.Met699Arg) c.2087T>G (p.Met696Arg) c.2057T>G (p.Met686Arg) c.2000T>G (p.Met667Arg) c.1946T>G (p.Met649Arg) c.1739T>G (p.Met580Arg) c.2153T>G (p.Met718Arg) c.2147T>G (p.Met716Arg) c.2144T>G (p.Met715Arg) c.2204T>G (p.Met735Arg) c.2195T>G (p.Met732Arg) c.2114T>G (p.Met705Arg) c.2063T>G (p.Met688Arg) | |
14 | g.33800353G>A | CA389413672 | NPAS3 | c.2046G>A (p.Met682Ile) c.2055G>A (p.Met685Ile) c.1946G>A c.793+2772G>A c.1950G>A (p.Met650Ile) c.2007G>A (p.Met669Ile) c.1956G>A (p.Met652Ile) c.2061G>A (p.Met687Ile) c.1968G>A (p.Met656Ile) c.2067G>A (p.Met689Ile) c.2097G>A (p.Met699Ile) c.2088G>A (p.Met696Ile) c.2058G>A (p.Met686Ile) c.2001G>A (p.Met667Ile) c.1947G>A (p.Met649Ile) c.1740G>A (p.Met580Ile) c.2154G>A (p.Met718Ile) c.2148G>A (p.Met716Ile) c.2145G>A (p.Met715Ile) c.2205G>A (p.Met735Ile) c.2196G>A (p.Met732Ile) c.2115G>A (p.Met705Ile) c.2064G>A (p.Met688Ile) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800353G>C | CA389413674 | NPAS3 | c.2046G>C (p.Met682Ile) c.2055G>C (p.Met685Ile) c.1946G>C c.793+2772G>C c.1950G>C (p.Met650Ile) c.2007G>C (p.Met669Ile) c.1956G>C (p.Met652Ile) c.2061G>C (p.Met687Ile) c.1968G>C (p.Met656Ile) c.2067G>C (p.Met689Ile) c.2097G>C (p.Met699Ile) c.2088G>C (p.Met696Ile) c.2058G>C (p.Met686Ile) c.2001G>C (p.Met667Ile) c.1947G>C (p.Met649Ile) c.1740G>C (p.Met580Ile) c.2154G>C (p.Met718Ile) c.2148G>C (p.Met716Ile) c.2145G>C (p.Met715Ile) c.2205G>C (p.Met735Ile) c.2196G>C (p.Met732Ile) c.2115G>C (p.Met705Ile) c.2064G>C (p.Met688Ile) | COSMIC COSMIC COSMIC |
14 | g.33800353G= | CA2128327298 | NPAS3 | c.2046G= (p.Met682=) c.2055G= (p.Met685=) c.1946G= c.793+2772G= c.1950G= (p.Met650=) c.2007G= (p.Met669=) c.1956G= (p.Met652=) c.2061G= (p.Met687=) c.1968G= (p.Met656=) c.2067G= (p.Met689=) c.2097G= (p.Met699=) c.2088G= (p.Met696=) c.2058G= (p.Met686=) c.2001G= (p.Met667=) c.1947G= (p.Met649=) c.1740G= (p.Met580=) c.2154G= (p.Met718=) c.2148G= (p.Met716=) c.2145G= (p.Met715=) c.2205G= (p.Met735=) c.2196G= (p.Met732=) c.2115G= (p.Met705=) c.2064G= (p.Met688=) | |
14 | g.33800353G>T | CA389413676 | NPAS3 | c.2046G>T (p.Met682Ile) c.2055G>T (p.Met685Ile) c.1946G>T c.793+2772G>T c.1950G>T (p.Met650Ile) c.2007G>T (p.Met669Ile) c.1956G>T (p.Met652Ile) c.2061G>T (p.Met687Ile) c.1968G>T (p.Met656Ile) c.2067G>T (p.Met689Ile) c.2097G>T (p.Met699Ile) c.2088G>T (p.Met696Ile) c.2058G>T (p.Met686Ile) c.2001G>T (p.Met667Ile) c.1947G>T (p.Met649Ile) c.1740G>T (p.Met580Ile) c.2154G>T (p.Met718Ile) c.2148G>T (p.Met716Ile) c.2145G>T (p.Met715Ile) c.2205G>T (p.Met735Ile) c.2196G>T (p.Met732Ile) c.2115G>T (p.Met705Ile) c.2064G>T (p.Met688Ile) | gnomAD v4 |
14 | g.33800354A>C | CA389413679 | NPAS3 | c.2047A>C (p.Thr683Pro) c.2056A>C (p.Thr686Pro) c.1947A>C c.793+2773A>C c.1951A>C (p.Thr651Pro) c.2008A>C (p.Thr670Pro) c.1957A>C (p.Thr653Pro) c.2062A>C (p.Thr688Pro) c.1969A>C (p.Thr657Pro) c.2068A>C (p.Thr690Pro) c.2098A>C (p.Thr700Pro) c.2089A>C (p.Thr697Pro) c.2059A>C (p.Thr687Pro) c.2002A>C (p.Thr668Pro) c.1948A>C (p.Thr650Pro) c.1741A>C (p.Thr581Pro) c.2155A>C (p.Thr719Pro) c.2149A>C (p.Thr717Pro) c.2146A>C (p.Thr716Pro) c.2206A>C (p.Thr736Pro) c.2197A>C (p.Thr733Pro) c.2116A>C (p.Thr706Pro) c.2065A>C (p.Thr689Pro) | gnomAD v4 |
14 | g.33800354A>G | CA389413681 | NPAS3 | c.2047A>G (p.Thr683Ala) c.2056A>G (p.Thr686Ala) c.1947A>G c.793+2773A>G c.1951A>G (p.Thr651Ala) c.2008A>G (p.Thr670Ala) c.1957A>G (p.Thr653Ala) c.2062A>G (p.Thr688Ala) c.1969A>G (p.Thr657Ala) c.2068A>G (p.Thr690Ala) c.2098A>G (p.Thr700Ala) c.2089A>G (p.Thr697Ala) c.2059A>G (p.Thr687Ala) c.2002A>G (p.Thr668Ala) c.1948A>G (p.Thr650Ala) c.1741A>G (p.Thr581Ala) c.2155A>G (p.Thr719Ala) c.2149A>G (p.Thr717Ala) c.2146A>G (p.Thr716Ala) c.2206A>G (p.Thr736Ala) c.2197A>G (p.Thr733Ala) c.2116A>G (p.Thr706Ala) c.2065A>G (p.Thr689Ala) | gnomAD v4 |
14 | g.33800354A>T | CA389413682 | NPAS3 | c.2047A>T (p.Thr683Ser) c.2056A>T (p.Thr686Ser) c.1947A>T c.793+2773A>T c.1951A>T (p.Thr651Ser) c.2008A>T (p.Thr670Ser) c.1957A>T (p.Thr653Ser) c.2062A>T (p.Thr688Ser) c.1969A>T (p.Thr657Ser) c.2068A>T (p.Thr690Ser) c.2098A>T (p.Thr700Ser) c.2089A>T (p.Thr697Ser) c.2059A>T (p.Thr687Ser) c.2002A>T (p.Thr668Ser) c.1948A>T (p.Thr650Ser) c.1741A>T (p.Thr581Ser) c.2155A>T (p.Thr719Ser) c.2149A>T (p.Thr717Ser) c.2146A>T (p.Thr716Ser) c.2206A>T (p.Thr736Ser) c.2197A>T (p.Thr733Ser) c.2116A>T (p.Thr706Ser) c.2065A>T (p.Thr689Ser) | |
14 | g.33800355C>A | CA389413686 | NPAS3 | c.2048C>A (p.Thr683Asn) c.2057C>A (p.Thr686Asn) c.1948C>A c.793+2774C>A c.1952C>A (p.Thr651Asn) c.2009C>A (p.Thr670Asn) c.1958C>A (p.Thr653Asn) c.2063C>A (p.Thr688Asn) c.1970C>A (p.Thr657Asn) c.2069C>A (p.Thr690Asn) c.2099C>A (p.Thr700Asn) c.2090C>A (p.Thr697Asn) c.2060C>A (p.Thr687Asn) c.2003C>A (p.Thr668Asn) c.1949C>A (p.Thr650Asn) c.1742C>A (p.Thr581Asn) c.2156C>A (p.Thr719Asn) c.2150C>A (p.Thr717Asn) c.2147C>A (p.Thr716Asn) c.2207C>A (p.Thr736Asn) c.2198C>A (p.Thr733Asn) c.2117C>A (p.Thr706Asn) c.2066C>A (p.Thr689Asn) | gnomAD v4 |
14 | g.33800355C>G | CA389413687 | NPAS3 | c.2048C>G (p.Thr683Ser) c.2057C>G (p.Thr686Ser) c.1948C>G c.793+2774C>G c.1952C>G (p.Thr651Ser) c.2009C>G (p.Thr670Ser) c.1958C>G (p.Thr653Ser) c.2063C>G (p.Thr688Ser) c.1970C>G (p.Thr657Ser) c.2069C>G (p.Thr690Ser) c.2099C>G (p.Thr700Ser) c.2090C>G (p.Thr697Ser) c.2060C>G (p.Thr687Ser) c.2003C>G (p.Thr668Ser) c.1949C>G (p.Thr650Ser) c.1742C>G (p.Thr581Ser) c.2156C>G (p.Thr719Ser) c.2150C>G (p.Thr717Ser) c.2147C>G (p.Thr716Ser) c.2207C>G (p.Thr736Ser) c.2198C>G (p.Thr733Ser) c.2117C>G (p.Thr706Ser) c.2066C>G (p.Thr689Ser) | |
14 | g.33800355C>T | CA389413684 | NPAS3 | c.2048C>T (p.Thr683Ile) c.2057C>T (p.Thr686Ile) c.1948C>T c.793+2774C>T c.1952C>T (p.Thr651Ile) c.2009C>T (p.Thr670Ile) c.1958C>T (p.Thr653Ile) c.2063C>T (p.Thr688Ile) c.1970C>T (p.Thr657Ile) c.2069C>T (p.Thr690Ile) c.2099C>T (p.Thr700Ile) c.2090C>T (p.Thr697Ile) c.2060C>T (p.Thr687Ile) c.2003C>T (p.Thr668Ile) c.1949C>T (p.Thr650Ile) c.1742C>T (p.Thr581Ile) c.2156C>T (p.Thr719Ile) c.2150C>T (p.Thr717Ile) c.2147C>T (p.Thr716Ile) c.2207C>T (p.Thr736Ile) c.2198C>T (p.Thr733Ile) c.2117C>T (p.Thr706Ile) c.2066C>T (p.Thr689Ile) | |
14 | g.33800356C>A | CA486093042 | NPAS3 | c.2049C>A (p.Thr683=) c.2058C>A (p.Thr686=) c.1949C>A c.793+2775C>A c.1953C>A (p.Thr651=) c.2010C>A (p.Thr670=) c.1959C>A (p.Thr653=) c.2064C>A (p.Thr688=) c.1971C>A (p.Thr657=) c.2070C>A (p.Thr690=) c.2100C>A (p.Thr700=) c.2091C>A (p.Thr697=) c.2061C>A (p.Thr687=) c.2004C>A (p.Thr668=) c.1950C>A (p.Thr650=) c.1743C>A (p.Thr581=) c.2157C>A (p.Thr719=) c.2151C>A (p.Thr717=) c.2148C>A (p.Thr716=) c.2208C>A (p.Thr736=) c.2199C>A (p.Thr733=) c.2118C>A (p.Thr706=) c.2067C>A (p.Thr689=) | |
14 | g.33800356C= | CA2128327299 | NPAS3 | c.2049C= (p.Thr683=) c.2058C= (p.Thr686=) c.1949C= c.793+2775C= c.1953C= (p.Thr651=) c.2010C= (p.Thr670=) c.1959C= (p.Thr653=) c.2064C= (p.Thr688=) c.1971C= (p.Thr657=) c.2070C= (p.Thr690=) c.2100C= (p.Thr700=) c.2091C= (p.Thr697=) c.2061C= (p.Thr687=) c.2004C= (p.Thr668=) c.1950C= (p.Thr650=) c.1743C= (p.Thr581=) c.2157C= (p.Thr719=) c.2151C= (p.Thr717=) c.2148C= (p.Thr716=) c.2208C= (p.Thr736=) c.2199C= (p.Thr733=) c.2118C= (p.Thr706=) c.2067C= (p.Thr689=) | |
14 | g.33800356C>G | CA486093043 | NPAS3 | c.2049C>G (p.Thr683=) c.2058C>G (p.Thr686=) c.1949C>G c.793+2775C>G c.1953C>G (p.Thr651=) c.2010C>G (p.Thr670=) c.1959C>G (p.Thr653=) c.2064C>G (p.Thr688=) c.1971C>G (p.Thr657=) c.2070C>G (p.Thr690=) c.2100C>G (p.Thr700=) c.2091C>G (p.Thr697=) c.2061C>G (p.Thr687=) c.2004C>G (p.Thr668=) c.1950C>G (p.Thr650=) c.1743C>G (p.Thr581=) c.2157C>G (p.Thr719=) c.2151C>G (p.Thr717=) c.2148C>G (p.Thr716=) c.2208C>G (p.Thr736=) c.2199C>G (p.Thr733=) c.2118C>G (p.Thr706=) c.2067C>G (p.Thr689=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.33800356C>T | CA486093044 | NPAS3 | c.2049C>T (p.Thr683=) c.2058C>T (p.Thr686=) c.1949C>T c.793+2775C>T c.1953C>T (p.Thr651=) c.2010C>T (p.Thr670=) c.1959C>T (p.Thr653=) c.2064C>T (p.Thr688=) c.1971C>T (p.Thr657=) c.2070C>T (p.Thr690=) c.2100C>T (p.Thr700=) c.2091C>T (p.Thr697=) c.2061C>T (p.Thr687=) c.2004C>T (p.Thr668=) c.1950C>T (p.Thr650=) c.1743C>T (p.Thr581=) c.2157C>T (p.Thr719=) c.2151C>T (p.Thr717=) c.2148C>T (p.Thr716=) c.2208C>T (p.Thr736=) c.2199C>T (p.Thr733=) c.2118C>T (p.Thr706=) c.2067C>T (p.Thr689=) | |
14 | g.33800357A>C | CA389413689 | NPAS3 | c.2050A>C (p.Lys684Gln) c.2059A>C (p.Lys687Gln) c.1950A>C c.793+2776A>C c.1954A>C (p.Lys652Gln) c.2011A>C (p.Lys671Gln) c.1960A>C (p.Lys654Gln) c.2065A>C (p.Lys689Gln) c.1972A>C (p.Lys658Gln) c.2071A>C (p.Lys691Gln) c.2101A>C (p.Lys701Gln) c.2092A>C (p.Lys698Gln) c.2062A>C (p.Lys688Gln) c.2005A>C (p.Lys669Gln) c.1951A>C (p.Lys651Gln) c.1744A>C (p.Lys582Gln) c.2158A>C (p.Lys720Gln) c.2152A>C (p.Lys718Gln) c.2149A>C (p.Lys717Gln) c.2209A>C (p.Lys737Gln) c.2200A>C (p.Lys734Gln) c.2119A>C (p.Lys707Gln) c.2068A>C (p.Lys690Gln) | |
14 | g.33800357A>G | CA389413690 | NPAS3 | c.2050A>G (p.Lys684Glu) c.2059A>G (p.Lys687Glu) c.1950A>G c.793+2776A>G c.1954A>G (p.Lys652Glu) c.2011A>G (p.Lys671Glu) c.1960A>G (p.Lys654Glu) c.2065A>G (p.Lys689Glu) c.1972A>G (p.Lys658Glu) c.2071A>G (p.Lys691Glu) c.2101A>G (p.Lys701Glu) c.2092A>G (p.Lys698Glu) c.2062A>G (p.Lys688Glu) c.2005A>G (p.Lys669Glu) c.1951A>G (p.Lys651Glu) c.1744A>G (p.Lys582Glu) c.2158A>G (p.Lys720Glu) c.2152A>G (p.Lys718Glu) c.2149A>G (p.Lys717Glu) c.2209A>G (p.Lys737Glu) c.2200A>G (p.Lys734Glu) c.2119A>G (p.Lys707Glu) c.2068A>G (p.Lys690Glu) | |
14 | g.33800357A>T | CA389413692 | NPAS3 | c.2050A>T (p.Lys684Ter) c.2059A>T (p.Lys687Ter) c.1950A>T c.793+2776A>T c.1954A>T (p.Lys652Ter) c.2011A>T (p.Lys671Ter) c.1960A>T (p.Lys654Ter) c.2065A>T (p.Lys689Ter) c.1972A>T (p.Lys658Ter) c.2071A>T (p.Lys691Ter) c.2101A>T (p.Lys701Ter) c.2092A>T (p.Lys698Ter) c.2062A>T (p.Lys688Ter) c.2005A>T (p.Lys669Ter) c.1951A>T (p.Lys651Ter) c.1744A>T (p.Lys582Ter) c.2158A>T (p.Lys720Ter) c.2152A>T (p.Lys718Ter) c.2149A>T (p.Lys717Ter) c.2209A>T (p.Lys737Ter) c.2200A>T (p.Lys734Ter) c.2119A>T (p.Lys707Ter) c.2068A>T (p.Lys690Ter) | |
14 | g.33800358A>C | CA389413694 | NPAS3 | c.2051A>C (p.Lys684Thr) c.2060A>C (p.Lys687Thr) c.1951A>C c.793+2777A>C c.1955A>C (p.Lys652Thr) c.2012A>C (p.Lys671Thr) c.1961A>C (p.Lys654Thr) c.2066A>C (p.Lys689Thr) c.1973A>C (p.Lys658Thr) c.2072A>C (p.Lys691Thr) c.2102A>C (p.Lys701Thr) c.2093A>C (p.Lys698Thr) c.2063A>C (p.Lys688Thr) c.2006A>C (p.Lys669Thr) c.1952A>C (p.Lys651Thr) c.1745A>C (p.Lys582Thr) c.2159A>C (p.Lys720Thr) c.2153A>C (p.Lys718Thr) c.2150A>C (p.Lys717Thr) c.2210A>C (p.Lys737Thr) c.2201A>C (p.Lys734Thr) c.2120A>C (p.Lys707Thr) c.2069A>C (p.Lys690Thr) | gnomAD v4 |
14 | g.33800358A>G | CA389413695 | NPAS3 | c.2051A>G (p.Lys684Arg) c.2060A>G (p.Lys687Arg) c.1951A>G c.793+2777A>G c.1955A>G (p.Lys652Arg) c.2012A>G (p.Lys671Arg) c.1961A>G (p.Lys654Arg) c.2066A>G (p.Lys689Arg) c.1973A>G (p.Lys658Arg) c.2072A>G (p.Lys691Arg) c.2102A>G (p.Lys701Arg) c.2093A>G (p.Lys698Arg) c.2063A>G (p.Lys688Arg) c.2006A>G (p.Lys669Arg) c.1952A>G (p.Lys651Arg) c.1745A>G (p.Lys582Arg) c.2159A>G (p.Lys720Arg) c.2153A>G (p.Lys718Arg) c.2150A>G (p.Lys717Arg) c.2210A>G (p.Lys737Arg) c.2201A>G (p.Lys734Arg) c.2120A>G (p.Lys707Arg) c.2069A>G (p.Lys690Arg) | |
14 | g.33800358A>T | CA389413697 | NPAS3 | c.2051A>T (p.Lys684Met) c.2060A>T (p.Lys687Met) c.1951A>T c.793+2777A>T c.1955A>T (p.Lys652Met) c.2012A>T (p.Lys671Met) c.1961A>T (p.Lys654Met) c.2066A>T (p.Lys689Met) c.1973A>T (p.Lys658Met) c.2072A>T (p.Lys691Met) c.2102A>T (p.Lys701Met) c.2093A>T (p.Lys698Met) c.2063A>T (p.Lys688Met) c.2006A>T (p.Lys669Met) c.1952A>T (p.Lys651Met) c.1745A>T (p.Lys582Met) c.2159A>T (p.Lys720Met) c.2153A>T (p.Lys718Met) c.2150A>T (p.Lys717Met) c.2210A>T (p.Lys737Met) c.2201A>T (p.Lys734Met) c.2120A>T (p.Lys707Met) c.2069A>T (p.Lys690Met) | |
14 | g.33800359G>A | CA486093045 | NPAS3 | c.2052G>A (p.Lys684=) c.2061G>A (p.Lys687=) c.1952G>A c.793+2778G>A c.1956G>A (p.Lys652=) c.2013G>A (p.Lys671=) c.1962G>A (p.Lys654=) c.2067G>A (p.Lys689=) c.1974G>A (p.Lys658=) c.2073G>A (p.Lys691=) c.2103G>A (p.Lys701=) c.2094G>A (p.Lys698=) c.2064G>A (p.Lys688=) c.2007G>A (p.Lys669=) c.1953G>A (p.Lys651=) c.1746G>A (p.Lys582=) c.2160G>A (p.Lys720=) c.2154G>A (p.Lys718=) c.2151G>A (p.Lys717=) c.2211G>A (p.Lys737=) c.2202G>A (p.Lys734=) c.2121G>A (p.Lys707=) c.2070G>A (p.Lys690=) | |
14 | g.33800359G>C | CA389413699 | NPAS3 | c.2052G>C (p.Lys684Asn) c.2061G>C (p.Lys687Asn) c.1952G>C c.793+2778G>C c.1956G>C (p.Lys652Asn) c.2013G>C (p.Lys671Asn) c.1962G>C (p.Lys654Asn) c.2067G>C (p.Lys689Asn) c.1974G>C (p.Lys658Asn) c.2073G>C (p.Lys691Asn) c.2103G>C (p.Lys701Asn) c.2094G>C (p.Lys698Asn) c.2064G>C (p.Lys688Asn) c.2007G>C (p.Lys669Asn) c.1953G>C (p.Lys651Asn) c.1746G>C (p.Lys582Asn) c.2160G>C (p.Lys720Asn) c.2154G>C (p.Lys718Asn) c.2151G>C (p.Lys717Asn) c.2211G>C (p.Lys737Asn) c.2202G>C (p.Lys734Asn) c.2121G>C (p.Lys707Asn) c.2070G>C (p.Lys690Asn) | |
14 | g.33800359G>T | CA389413701 | NPAS3 | c.2052G>T (p.Lys684Asn) c.2061G>T (p.Lys687Asn) c.1952G>T c.793+2778G>T c.1956G>T (p.Lys652Asn) c.2013G>T (p.Lys671Asn) c.1962G>T (p.Lys654Asn) c.2067G>T (p.Lys689Asn) c.1974G>T (p.Lys658Asn) c.2073G>T (p.Lys691Asn) c.2103G>T (p.Lys701Asn) c.2094G>T (p.Lys698Asn) c.2064G>T (p.Lys688Asn) c.2007G>T (p.Lys669Asn) c.1953G>T (p.Lys651Asn) c.1746G>T (p.Lys582Asn) c.2160G>T (p.Lys720Asn) c.2154G>T (p.Lys718Asn) c.2151G>T (p.Lys717Asn) c.2211G>T (p.Lys737Asn) c.2202G>T (p.Lys734Asn) c.2121G>T (p.Lys707Asn) c.2070G>T (p.Lys690Asn) | |
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 |