Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.33800384T>ACA389413814NPAS3c.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
14g.33800384T>CCA389413812NPAS3c.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)
14g.33800384T>GCA389413810NPAS3c.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
14g.33800385C>ACA389413817NPAS3c.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)
14g.33800385C=CA2128327352NPAS3c.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=)
14g.33800385C>GCA389413818NPAS3c.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
14g.33800385C>TCA389413820NPAS3c.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
14g.33800388delCA2624512031NPAS3c.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
14g.33800386C>ACA486093080NPAS3c.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=)
14g.33800386C>GCA486093081NPAS3c.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=)
14g.33800386C>TCA486093082NPAS3c.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
14g.33800387C>ACA389413823NPAS3c.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
14g.33800387C>GCA389413825NPAS3c.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
14g.33800387C>TCA389413827NPAS3c.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)
14g.33800388C>ACA389413829NPAS3c.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)
14g.33800388C>GCA389413830NPAS3c.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)
14g.33800388C>TCA389413832NPAS3c.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)
14g.33800389G>ACA486093086NPAS3c.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
14g.33800389G>CCA486093087NPAS3c.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=)
14g.33800389G>TCA486093085NPAS3c.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
14g.33800389_33800390insAGCACTAGGAGAGCCATGGATCTCGACGACTCGCGTCCGATCTGGATCCAGCTGGTCGATGATTTCCGCATGCGGATCGTCACCGGCATCTGGCCCGCCGGAACCCGGATCCCCAGCGTGCGCGATCTCGCCA2513165665NPAS3c.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?)
14g.33800390C>ACA389413834NPAS3c.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)
14g.33800390C>GCA389413835NPAS3c.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)
14g.33800390C>TCA389413836NPAS3c.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)
14g.33800391A>CCA389413839NPAS3c.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
14g.33800391A>GCA389413843NPAS3c.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)
14g.33800391A>TCA389413842NPAS3c.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
14g.33800392G>ACA486093089NPAS3c.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=)
14g.33800392G>CCA389413846NPAS3c.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)
14g.33800392G=CA2128327355NPAS3c.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=)
14g.33800392G>TCA389413848NPAS3c.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
14g.33800393G>ACA389413853NPAS3c.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)
14g.33800393G>CCA389413855NPAS3c.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)
14g.33800393G>TCA389413852NPAS3c.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)
14g.33800401_33800403dupCA613803861NPAS3c.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
14g.33800398_33800403dupCA7150933NPAS3c.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
14g.33800401_33800403delCA613803862NPAS3c.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
14g.33800394G>ACA389413861NPAS3c.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
14g.33800394G>CCA389413857NPAS3c.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)
14g.33800394G=CA2128327360NPAS3c.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=)
14g.33800394G>TCA389413859NPAS3c.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)
14g.33800395C>ACA486093092NPAS3c.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=)
14g.33800395C=CA2128327363NPAS3c.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=)
14g.33800395C>GCA486093093NPAS3c.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
14g.33800395C>TCA7150934NPAS3c.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
14g.33800396G>ACA7150935NPAS3c.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
14g.33800396G>CCA389413865NPAS3c.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)
14g.33800396G=CA2128327366NPAS3c.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=)
14g.33800396G>TCA389413867NPAS3c.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
14g.33800397G>ACA389413869NPAS3c.2090G>A (p.Gly697Asp)
c.2099G>A (p.Gly700Asp)
c.1990G>A
c.793+2816G>A
c.1994G>A (p.Gly665Asp)
c.2051G>A (p.Gly684Asp)
c.2000G>A (p.Gly667Asp)
c.2105G>A (p.Gly702Asp)
c.2012G>A (p.Gly671Asp)
c.2111G>A (p.Gly704Asp)
c.2141G>A (p.Gly714Asp)
c.2132G>A (p.Gly711Asp)
c.2102G>A (p.Gly701Asp)
c.2045G>A (p.Gly682Asp)
c.1991G>A (p.Gly664Asp)
c.1784G>A (p.Gly595Asp)
c.2198G>A (p.Gly733Asp)
c.2192G>A (p.Gly731Asp)
c.2189G>A (p.Gly730Asp)
c.2249G>A (p.Gly750Asp)
c.2240G>A (p.Gly747Asp)
c.2159G>A (p.Gly720Asp)
c.2108G>A (p.Gly703Asp)
 dbSNP gnomAD v2 gnomAD v4
14g.33800397G>CCA389413871NPAS3c.2090G>C (p.Gly697Ala)
c.2099G>C (p.Gly700Ala)
c.1990G>C
c.793+2816G>C
c.1994G>C (p.Gly665Ala)
c.2051G>C (p.Gly684Ala)
c.2000G>C (p.Gly667Ala)
c.2105G>C (p.Gly702Ala)
c.2012G>C (p.Gly671Ala)
c.2111G>C (p.Gly704Ala)
c.2141G>C (p.Gly714Ala)
c.2132G>C (p.Gly711Ala)
c.2102G>C (p.Gly701Ala)
c.2045G>C (p.Gly682Ala)
c.1991G>C (p.Gly664Ala)
c.1784G>C (p.Gly595Ala)
c.2198G>C (p.Gly733Ala)
c.2192G>C (p.Gly731Ala)
c.2189G>C (p.Gly730Ala)
c.2249G>C (p.Gly750Ala)
c.2240G>C (p.Gly747Ala)
c.2159G>C (p.Gly720Ala)
c.2108G>C (p.Gly703Ala)
14g.33800397G=CA2128327369NPAS3c.2090G= (p.Gly697=)
c.2099G= (p.Gly700=)
c.1990G=
c.793+2816G=
c.1994G= (p.Gly665=)
c.2051G= (p.Gly684=)
c.2000G= (p.Gly667=)
c.2105G= (p.Gly702=)
c.2012G= (p.Gly671=)
c.2111G= (p.Gly704=)
c.2141G= (p.Gly714=)
c.2132G= (p.Gly711=)
c.2102G= (p.Gly701=)
c.2045G= (p.Gly682=)
c.1991G= (p.Gly664=)
c.1784G= (p.Gly595=)
c.2198G= (p.Gly733=)
c.2192G= (p.Gly731=)
c.2189G= (p.Gly730=)
c.2249G= (p.Gly750=)
c.2240G= (p.Gly747=)
c.2159G= (p.Gly720=)
c.2108G= (p.Gly703=)
14g.33800397G>TCA389413873NPAS3c.2090G>T (p.Gly697Val)
c.2099G>T (p.Gly700Val)
c.1990G>T
c.793+2816G>T
c.1994G>T (p.Gly665Val)
c.2051G>T (p.Gly684Val)
c.2000G>T (p.Gly667Val)
c.2105G>T (p.Gly702Val)
c.2012G>T (p.Gly671Val)
c.2111G>T (p.Gly704Val)
c.2141G>T (p.Gly714Val)
c.2132G>T (p.Gly711Val)
c.2102G>T (p.Gly701Val)
c.2045G>T (p.Gly682Val)
c.1991G>T (p.Gly664Val)
c.1784G>T (p.Gly595Val)
c.2198G>T (p.Gly733Val)
c.2192G>T (p.Gly731Val)
c.2189G>T (p.Gly730Val)
c.2249G>T (p.Gly750Val)
c.2240G>T (p.Gly747Val)
c.2159G>T (p.Gly720Val)
c.2108G>T (p.Gly703Val)
14g.33800398C>ACA486093097NPAS3c.2091C>A (p.Gly697=)
c.2100C>A (p.Gly700=)
c.1991C>A
c.793+2817C>A
c.1995C>A (p.Gly665=)
c.2052C>A (p.Gly684=)
c.2001C>A (p.Gly667=)
c.2106C>A (p.Gly702=)
c.2013C>A (p.Gly671=)
c.2112C>A (p.Gly704=)
c.2142C>A (p.Gly714=)
c.2133C>A (p.Gly711=)
c.2103C>A (p.Gly701=)
c.2046C>A (p.Gly682=)
c.1992C>A (p.Gly664=)
c.1785C>A (p.Gly595=)
c.2199C>A (p.Gly733=)
c.2193C>A (p.Gly731=)
c.2190C>A (p.Gly730=)
c.2250C>A (p.Gly750=)
c.2241C>A (p.Gly747=)
c.2160C>A (p.Gly720=)
c.2109C>A (p.Gly703=)
 gnomAD v4
14g.33800398C=CA2128327372NPAS3c.2091C= (p.Gly697=)
c.2100C= (p.Gly700=)
c.1991C=
c.793+2817C=
c.1995C= (p.Gly665=)
c.2052C= (p.Gly684=)
c.2001C= (p.Gly667=)
c.2106C= (p.Gly702=)
c.2013C= (p.Gly671=)
c.2112C= (p.Gly704=)
c.2142C= (p.Gly714=)
c.2133C= (p.Gly711=)
c.2103C= (p.Gly701=)
c.2046C= (p.Gly682=)
c.1992C= (p.Gly664=)
c.1785C= (p.Gly595=)
c.2199C= (p.Gly733=)
c.2193C= (p.Gly731=)
c.2190C= (p.Gly730=)
c.2250C= (p.Gly750=)
c.2241C= (p.Gly747=)
c.2160C= (p.Gly720=)
c.2109C= (p.Gly703=)
14g.33800398C>GCA486093098NPAS3c.2091C>G (p.Gly697=)
c.2100C>G (p.Gly700=)
c.1991C>G
c.793+2817C>G
c.1995C>G (p.Gly665=)
c.2052C>G (p.Gly684=)
c.2001C>G (p.Gly667=)
c.2106C>G (p.Gly702=)
c.2013C>G (p.Gly671=)
c.2112C>G (p.Gly704=)
c.2142C>G (p.Gly714=)
c.2133C>G (p.Gly711=)
c.2103C>G (p.Gly701=)
c.2046C>G (p.Gly682=)
c.1992C>G (p.Gly664=)
c.1785C>G (p.Gly595=)
c.2199C>G (p.Gly733=)
c.2193C>G (p.Gly731=)
c.2190C>G (p.Gly730=)
c.2250C>G (p.Gly750=)
c.2241C>G (p.Gly747=)
c.2160C>G (p.Gly720=)
c.2109C>G (p.Gly703=)
 gnomAD v4
14g.33800398C>TCA486093099NPAS3c.2091C>T (p.Gly697=)
c.2100C>T (p.Gly700=)
c.1991C>T
c.793+2817C>T
c.1995C>T (p.Gly665=)
c.2052C>T (p.Gly684=)
c.2001C>T (p.Gly667=)
c.2106C>T (p.Gly702=)
c.2013C>T (p.Gly671=)
c.2112C>T (p.Gly704=)
c.2142C>T (p.Gly714=)
c.2133C>T (p.Gly711=)
c.2103C>T (p.Gly701=)
c.2046C>T (p.Gly682=)
c.1992C>T (p.Gly664=)
c.1785C>T (p.Gly595=)
c.2199C>T (p.Gly733=)
c.2193C>T (p.Gly731=)
c.2190C>T (p.Gly730=)
c.2250C>T (p.Gly750=)
c.2241C>T (p.Gly747=)
c.2160C>T (p.Gly720=)
c.2109C>T (p.Gly703=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800399G>ACA389413875NPAS3c.2092G>A (p.Gly698Ser)
c.2101G>A (p.Gly701Ser)
c.1992G>A
c.793+2818G>A
c.1996G>A (p.Gly666Ser)
c.2053G>A (p.Gly685Ser)
c.2002G>A (p.Gly668Ser)
c.2107G>A (p.Gly703Ser)
c.2014G>A (p.Gly672Ser)
c.2113G>A (p.Gly705Ser)
c.2143G>A (p.Gly715Ser)
c.2134G>A (p.Gly712Ser)
c.2104G>A (p.Gly702Ser)
c.2047G>A (p.Gly683Ser)
c.1993G>A (p.Gly665Ser)
c.1786G>A (p.Gly596Ser)
c.2200G>A (p.Gly734Ser)
c.2194G>A (p.Gly732Ser)
c.2191G>A (p.Gly731Ser)
c.2251G>A (p.Gly751Ser)
c.2242G>A (p.Gly748Ser)
c.2161G>A (p.Gly721Ser)
c.2110G>A (p.Gly704Ser)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
14g.33800399G>CCA389413876NPAS3c.2092G>C (p.Gly698Arg)
c.2101G>C (p.Gly701Arg)
c.1992G>C
c.793+2818G>C
c.1996G>C (p.Gly666Arg)
c.2053G>C (p.Gly685Arg)
c.2002G>C (p.Gly668Arg)
c.2107G>C (p.Gly703Arg)
c.2014G>C (p.Gly672Arg)
c.2113G>C (p.Gly705Arg)
c.2143G>C (p.Gly715Arg)
c.2134G>C (p.Gly712Arg)
c.2104G>C (p.Gly702Arg)
c.2047G>C (p.Gly683Arg)
c.1993G>C (p.Gly665Arg)
c.1786G>C (p.Gly596Arg)
c.2200G>C (p.Gly734Arg)
c.2194G>C (p.Gly732Arg)
c.2191G>C (p.Gly731Arg)
c.2251G>C (p.Gly751Arg)
c.2242G>C (p.Gly748Arg)
c.2161G>C (p.Gly721Arg)
c.2110G>C (p.Gly704Arg)
14g.33800399G=CA2128327375NPAS3c.2092G= (p.Gly698=)
c.2101G= (p.Gly701=)
c.1992G=
c.793+2818G=
c.1996G= (p.Gly666=)
c.2053G= (p.Gly685=)
c.2002G= (p.Gly668=)
c.2107G= (p.Gly703=)
c.2014G= (p.Gly672=)
c.2113G= (p.Gly705=)
c.2143G= (p.Gly715=)
c.2134G= (p.Gly712=)
c.2104G= (p.Gly702=)
c.2047G= (p.Gly683=)
c.1993G= (p.Gly665=)
c.1786G= (p.Gly596=)
c.2200G= (p.Gly734=)
c.2194G= (p.Gly732=)
c.2191G= (p.Gly731=)
c.2251G= (p.Gly751=)
c.2242G= (p.Gly748=)
c.2161G= (p.Gly721=)
c.2110G= (p.Gly704=)
14g.33800399G>TCA389413878NPAS3c.2092G>T (p.Gly698Cys)
c.2101G>T (p.Gly701Cys)
c.1992G>T
c.793+2818G>T
c.1996G>T (p.Gly666Cys)
c.2053G>T (p.Gly685Cys)
c.2002G>T (p.Gly668Cys)
c.2107G>T (p.Gly703Cys)
c.2014G>T (p.Gly672Cys)
c.2113G>T (p.Gly705Cys)
c.2143G>T (p.Gly715Cys)
c.2134G>T (p.Gly712Cys)
c.2104G>T (p.Gly702Cys)
c.2047G>T (p.Gly683Cys)
c.1993G>T (p.Gly665Cys)
c.1786G>T (p.Gly596Cys)
c.2200G>T (p.Gly734Cys)
c.2194G>T (p.Gly732Cys)
c.2191G>T (p.Gly731Cys)
c.2251G>T (p.Gly751Cys)
c.2242G>T (p.Gly748Cys)
c.2161G>T (p.Gly721Cys)
c.2110G>T (p.Gly704Cys)
14g.33800400delCA2564778018NPAS3c.2093del (p.Gly698AlafsTer?)
c.2102del (p.Gly701AlafsTer?)
c.1993del
c.793+2819del
c.1997del (p.Gly666AlafsTer?)
c.2054del (p.Gly685AlafsTer?)
c.2003del (p.Gly668AlafsTer?)
c.2108del (p.Gly703AlafsTer?)
c.2015del (p.Gly672AlafsTer?)
c.2114del (p.Gly705AlafsTer?)
c.2144del (p.Gly715AlafsTer?)
c.2135del (p.Gly712AlafsTer?)
c.2105del (p.Gly702AlafsTer?)
c.2048del (p.Gly683AlafsTer?)
c.1994del (p.Gly665AlafsTer?)
c.1787del (p.Gly596AlafsTer?)
c.2201del (p.Gly734AlafsTer?)
c.2195del (p.Gly732AlafsTer?)
c.2192del (p.Gly731AlafsTer?)
c.2252del (p.Gly751AlafsTer?)
c.2243del (p.Gly748AlafsTer?)
c.2162del (p.Gly721AlafsTer?)
c.2111del (p.Gly704AlafsTer?)
14g.33800407_33800418delCA2575504025NPAS3c.2100_2111del (p.Gly701_Gly704del)
c.2109_2120del (p.Gly704_Gly707del)
c.2000_2011del
c.793+2826_793+2837del
c.2004_2015del (p.Gly669_Gly672del)
c.2061_2072del (p.Gly688_Gly691del)
c.2010_2021del (p.Gly671_Gly674del)
c.2115_2126del (p.Gly706_Gly709del)
c.2022_2033del (p.Gly675_Gly678del)
c.2121_2132del (p.Gly708_Gly711del)
c.2151_2162del (p.Gly718_Gly721del)
c.2142_2153del (p.Gly715_Gly718del)
c.2112_2123del (p.Gly705_Gly708del)
c.2055_2066del (p.Gly686_Gly689del)
c.2001_2012del (p.Gly668_Gly671del)
c.1794_1805del (p.Gly599_Gly602del)
c.2208_2219del (p.Gly737_Gly740del)
c.2202_2213del (p.Gly735_Gly738del)
c.2199_2210del (p.Gly734_Gly737del)
c.2259_2270del (p.Gly754_Gly757del)
c.2250_2261del (p.Gly751_Gly754del)
c.2169_2180del (p.Gly724_Gly727del)
c.2118_2129del (p.Gly707_Gly710del)
 gnomAD v4
14g.33800400G>ACA258719101NPAS3c.2093G>A (p.Gly698Asp)
c.2102G>A (p.Gly701Asp)
c.1993G>A
c.793+2819G>A
c.1997G>A (p.Gly666Asp)
c.2054G>A (p.Gly685Asp)
c.2003G>A (p.Gly668Asp)
c.2108G>A (p.Gly703Asp)
c.2015G>A (p.Gly672Asp)
c.2114G>A (p.Gly705Asp)
c.2144G>A (p.Gly715Asp)
c.2135G>A (p.Gly712Asp)
c.2105G>A (p.Gly702Asp)
c.2048G>A (p.Gly683Asp)
c.1994G>A (p.Gly665Asp)
c.1787G>A (p.Gly596Asp)
c.2201G>A (p.Gly734Asp)
c.2195G>A (p.Gly732Asp)
c.2192G>A (p.Gly731Asp)
c.2252G>A (p.Gly751Asp)
c.2243G>A (p.Gly748Asp)
c.2162G>A (p.Gly721Asp)
c.2111G>A (p.Gly704Asp)
 dbSNP gnomAD v4
14g.33800400G>CCA389413883NPAS3c.2093G>C (p.Gly698Ala)
c.2102G>C (p.Gly701Ala)
c.1993G>C
c.793+2819G>C
c.1997G>C (p.Gly666Ala)
c.2054G>C (p.Gly685Ala)
c.2003G>C (p.Gly668Ala)
c.2108G>C (p.Gly703Ala)
c.2015G>C (p.Gly672Ala)
c.2114G>C (p.Gly705Ala)
c.2144G>C (p.Gly715Ala)
c.2135G>C (p.Gly712Ala)
c.2105G>C (p.Gly702Ala)
c.2048G>C (p.Gly683Ala)
c.1994G>C (p.Gly665Ala)
c.1787G>C (p.Gly596Ala)
c.2201G>C (p.Gly734Ala)
c.2195G>C (p.Gly732Ala)
c.2192G>C (p.Gly731Ala)
c.2252G>C (p.Gly751Ala)
c.2243G>C (p.Gly748Ala)
c.2162G>C (p.Gly721Ala)
c.2111G>C (p.Gly704Ala)
14g.33800400G=CA2128327381NPAS3c.2093G= (p.Gly698=)
c.2102G= (p.Gly701=)
c.1993G=
c.793+2819G=
c.1997G= (p.Gly666=)
c.2054G= (p.Gly685=)
c.2003G= (p.Gly668=)
c.2108G= (p.Gly703=)
c.2015G= (p.Gly672=)
c.2114G= (p.Gly705=)
c.2144G= (p.Gly715=)
c.2135G= (p.Gly712=)
c.2105G= (p.Gly702=)
c.2048G= (p.Gly683=)
c.1994G= (p.Gly665=)
c.1787G= (p.Gly596=)
c.2201G= (p.Gly734=)
c.2195G= (p.Gly732=)
c.2192G= (p.Gly731=)
c.2252G= (p.Gly751=)
c.2243G= (p.Gly748=)
c.2162G= (p.Gly721=)
c.2111G= (p.Gly704=)
14g.33800400G>TCA389413881NPAS3c.2093G>T (p.Gly698Val)
c.2102G>T (p.Gly701Val)
c.1993G>T
c.793+2819G>T
c.1997G>T (p.Gly666Val)
c.2054G>T (p.Gly685Val)
c.2003G>T (p.Gly668Val)
c.2108G>T (p.Gly703Val)
c.2015G>T (p.Gly672Val)
c.2114G>T (p.Gly705Val)
c.2144G>T (p.Gly715Val)
c.2135G>T (p.Gly712Val)
c.2105G>T (p.Gly702Val)
c.2048G>T (p.Gly683Val)
c.1994G>T (p.Gly665Val)
c.1787G>T (p.Gly596Val)
c.2201G>T (p.Gly734Val)
c.2195G>T (p.Gly732Val)
c.2192G>T (p.Gly731Val)
c.2252G>T (p.Gly751Val)
c.2243G>T (p.Gly748Val)
c.2162G>T (p.Gly721Val)
c.2111G>T (p.Gly704Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800401C>ACA486093102NPAS3c.2094C>A (p.Gly698=)
c.2103C>A (p.Gly701=)
c.1994C>A
c.793+2820C>A
c.1998C>A (p.Gly666=)
c.2055C>A (p.Gly685=)
c.2004C>A (p.Gly668=)
c.2109C>A (p.Gly703=)
c.2016C>A (p.Gly672=)
c.2115C>A (p.Gly705=)
c.2145C>A (p.Gly715=)
c.2136C>A (p.Gly712=)
c.2106C>A (p.Gly702=)
c.2049C>A (p.Gly683=)
c.1995C>A (p.Gly665=)
c.1788C>A (p.Gly596=)
c.2202C>A (p.Gly734=)
c.2196C>A (p.Gly732=)
c.2193C>A (p.Gly731=)
c.2253C>A (p.Gly751=)
c.2244C>A (p.Gly748=)
c.2163C>A (p.Gly721=)
c.2112C>A (p.Gly704=)
 gnomAD v4
14g.33800401C=CA2128327387NPAS3c.2094C= (p.Gly698=)
c.2103C= (p.Gly701=)
c.1994C=
c.793+2820C=
c.1998C= (p.Gly666=)
c.2055C= (p.Gly685=)
c.2004C= (p.Gly668=)
c.2109C= (p.Gly703=)
c.2016C= (p.Gly672=)
c.2115C= (p.Gly705=)
c.2145C= (p.Gly715=)
c.2136C= (p.Gly712=)
c.2106C= (p.Gly702=)
c.2049C= (p.Gly683=)
c.1995C= (p.Gly665=)
c.1788C= (p.Gly596=)
c.2202C= (p.Gly734=)
c.2196C= (p.Gly732=)
c.2193C= (p.Gly731=)
c.2253C= (p.Gly751=)
c.2244C= (p.Gly748=)
c.2163C= (p.Gly721=)
c.2112C= (p.Gly704=)
14g.33800401C>GCA486093103NPAS3c.2094C>G (p.Gly698=)
c.2103C>G (p.Gly701=)
c.1994C>G
c.793+2820C>G
c.1998C>G (p.Gly666=)
c.2055C>G (p.Gly685=)
c.2004C>G (p.Gly668=)
c.2109C>G (p.Gly703=)
c.2016C>G (p.Gly672=)
c.2115C>G (p.Gly705=)
c.2145C>G (p.Gly715=)
c.2136C>G (p.Gly712=)
c.2106C>G (p.Gly702=)
c.2049C>G (p.Gly683=)
c.1995C>G (p.Gly665=)
c.1788C>G (p.Gly596=)
c.2202C>G (p.Gly734=)
c.2196C>G (p.Gly732=)
c.2193C>G (p.Gly731=)
c.2253C>G (p.Gly751=)
c.2244C>G (p.Gly748=)
c.2163C>G (p.Gly721=)
c.2112C>G (p.Gly704=)
 gnomAD v4
14g.33800401C>TCA7150936NPAS3c.2094C>T (p.Gly698=)
c.2103C>T (p.Gly701=)
c.1994C>T
c.793+2820C>T
c.1998C>T (p.Gly666=)
c.2055C>T (p.Gly685=)
c.2004C>T (p.Gly668=)
c.2109C>T (p.Gly703=)
c.2016C>T (p.Gly672=)
c.2115C>T (p.Gly705=)
c.2145C>T (p.Gly715=)
c.2136C>T (p.Gly712=)
c.2106C>T (p.Gly702=)
c.2049C>T (p.Gly683=)
c.1995C>T (p.Gly665=)
c.1788C>T (p.Gly596=)
c.2202C>T (p.Gly734=)
c.2196C>T (p.Gly732=)
c.2193C>T (p.Gly731=)
c.2253C>T (p.Gly751=)
c.2244C>T (p.Gly748=)
c.2163C>T (p.Gly721=)
c.2112C>T (p.Gly704=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800402G>ACA389413885NPAS3c.2095G>A (p.Gly699Ser)
c.2104G>A (p.Gly702Ser)
c.1995G>A
c.793+2821G>A
c.1999G>A (p.Gly667Ser)
c.2056G>A (p.Gly686Ser)
c.2005G>A (p.Gly669Ser)
c.2110G>A (p.Gly704Ser)
c.2017G>A (p.Gly673Ser)
c.2116G>A (p.Gly706Ser)
c.2146G>A (p.Gly716Ser)
c.2137G>A (p.Gly713Ser)
c.2107G>A (p.Gly703Ser)
c.2050G>A (p.Gly684Ser)
c.1996G>A (p.Gly666Ser)
c.1789G>A (p.Gly597Ser)
c.2203G>A (p.Gly735Ser)
c.2197G>A (p.Gly733Ser)
c.2194G>A (p.Gly732Ser)
c.2254G>A (p.Gly752Ser)
c.2245G>A (p.Gly749Ser)
c.2164G>A (p.Gly722Ser)
c.2113G>A (p.Gly705Ser)
14g.33800402G>CCA389413887NPAS3c.2095G>C (p.Gly699Arg)
c.2104G>C (p.Gly702Arg)
c.1995G>C
c.793+2821G>C
c.1999G>C (p.Gly667Arg)
c.2056G>C (p.Gly686Arg)
c.2005G>C (p.Gly669Arg)
c.2110G>C (p.Gly704Arg)
c.2017G>C (p.Gly673Arg)
c.2116G>C (p.Gly706Arg)
c.2146G>C (p.Gly716Arg)
c.2137G>C (p.Gly713Arg)
c.2107G>C (p.Gly703Arg)
c.2050G>C (p.Gly684Arg)
c.1996G>C (p.Gly666Arg)
c.1789G>C (p.Gly597Arg)
c.2203G>C (p.Gly735Arg)
c.2197G>C (p.Gly733Arg)
c.2194G>C (p.Gly732Arg)
c.2254G>C (p.Gly752Arg)
c.2245G>C (p.Gly749Arg)
c.2164G>C (p.Gly722Arg)
c.2113G>C (p.Gly705Arg)
 gnomAD v4
14g.33800402G=CA2128327392NPAS3c.2095G= (p.Gly699=)
c.2104G= (p.Gly702=)
c.1995G=
c.793+2821G=
c.1999G= (p.Gly667=)
c.2056G= (p.Gly686=)
c.2005G= (p.Gly669=)
c.2110G= (p.Gly704=)
c.2017G= (p.Gly673=)
c.2116G= (p.Gly706=)
c.2146G= (p.Gly716=)
c.2137G= (p.Gly713=)
c.2107G= (p.Gly703=)
c.2050G= (p.Gly684=)
c.1996G= (p.Gly666=)
c.1789G= (p.Gly597=)
c.2203G= (p.Gly735=)
c.2197G= (p.Gly733=)
c.2194G= (p.Gly732=)
c.2254G= (p.Gly752=)
c.2245G= (p.Gly749=)
c.2164G= (p.Gly722=)
c.2113G= (p.Gly705=)
14g.33800402G>TCA389413889NPAS3c.2095G>T (p.Gly699Cys)
c.2104G>T (p.Gly702Cys)
c.1995G>T
c.793+2821G>T
c.1999G>T (p.Gly667Cys)
c.2056G>T (p.Gly686Cys)
c.2005G>T (p.Gly669Cys)
c.2110G>T (p.Gly704Cys)
c.2017G>T (p.Gly673Cys)
c.2116G>T (p.Gly706Cys)
c.2146G>T (p.Gly716Cys)
c.2137G>T (p.Gly713Cys)
c.2107G>T (p.Gly703Cys)
c.2050G>T (p.Gly684Cys)
c.1996G>T (p.Gly666Cys)
c.1789G>T (p.Gly597Cys)
c.2203G>T (p.Gly735Cys)
c.2197G>T (p.Gly733Cys)
c.2194G>T (p.Gly732Cys)
c.2254G>T (p.Gly752Cys)
c.2245G>T (p.Gly749Cys)
c.2164G>T (p.Gly722Cys)
c.2113G>T (p.Gly705Cys)
 dbSNP gnomAD v2 gnomAD v4
14g.33800403dupCA2801126436NPAS3c.2096dup (p.Gly700TrpfsTer?)
c.2105dup (p.Gly703TrpfsTer?)
c.1996dup
c.793+2822dup
c.2000dup (p.Gly668TrpfsTer?)
c.2057dup (p.Gly687TrpfsTer?)
c.2006dup (p.Gly670TrpfsTer?)
c.2111dup (p.Gly705TrpfsTer?)
c.2018dup (p.Gly674TrpfsTer?)
c.2117dup (p.Gly707TrpfsTer?)
c.2147dup (p.Gly717TrpfsTer?)
c.2138dup (p.Gly714TrpfsTer?)
c.2108dup (p.Gly704TrpfsTer?)
c.2051dup (p.Gly685TrpfsTer?)
c.1997dup (p.Gly667TrpfsTer?)
c.1790dup (p.Gly598TrpfsTer?)
c.2204dup (p.Gly736TrpfsTer?)
c.2198dup (p.Gly734TrpfsTer?)
c.2195dup (p.Gly733TrpfsTer?)
c.2255dup (p.Gly753TrpfsTer?)
c.2246dup (p.Gly750TrpfsTer?)
c.2165dup (p.Gly723TrpfsTer?)
c.2114dup (p.Gly706TrpfsTer?)
14g.33800402_33800403dupCA2801126437NPAS3c.2095_2096dup (p.Gly700ValfsTer?)
c.2104_2105dup (p.Gly703ValfsTer?)
c.1995_1996dup
c.793+2821_793+2822dup
c.1999_2000dup (p.Gly668ValfsTer?)
c.2056_2057dup (p.Gly687ValfsTer?)
c.2005_2006dup (p.Gly670ValfsTer?)
c.2110_2111dup (p.Gly705ValfsTer?)
c.2017_2018dup (p.Gly674ValfsTer?)
c.2116_2117dup (p.Gly707ValfsTer?)
c.2146_2147dup (p.Gly717ValfsTer?)
c.2137_2138dup (p.Gly714ValfsTer?)
c.2107_2108dup (p.Gly704ValfsTer?)
c.2050_2051dup (p.Gly685ValfsTer?)
c.1996_1997dup (p.Gly667ValfsTer?)
c.1789_1790dup (p.Gly598ValfsTer?)
c.2203_2204dup (p.Gly736ValfsTer?)
c.2197_2198dup (p.Gly734ValfsTer?)
c.2194_2195dup (p.Gly733ValfsTer?)
c.2254_2255dup (p.Gly753ValfsTer?)
c.2245_2246dup (p.Gly750ValfsTer?)
c.2164_2165dup (p.Gly723ValfsTer?)
c.2113_2114dup (p.Gly706ValfsTer?)
14g.33800407_33800412dupCA7150937NPAS3c.2100_2105dup (p.Gly702_Gly703insGlyGly)
c.2109_2114dup (p.Gly705_Gly706insGlyGly)
c.2000_2005dup
c.793+2826_793+2831dup
c.2004_2009dup (p.Gly670_Gly671insGlyGly)
c.2061_2066dup (p.Gly689_Gly690insGlyGly)
c.2010_2015dup (p.Gly672_Gly673insGlyGly)
c.2115_2120dup (p.Gly707_Gly708insGlyGly)
c.2022_2027dup (p.Gly676_Gly677insGlyGly)
c.2121_2126dup (p.Gly709_Gly710insGlyGly)
c.2151_2156dup (p.Gly719_Gly720insGlyGly)
c.2142_2147dup (p.Gly716_Gly717insGlyGly)
c.2112_2117dup (p.Gly706_Gly707insGlyGly)
c.2055_2060dup (p.Gly687_Gly688insGlyGly)
c.2001_2006dup (p.Gly669_Gly670insGlyGly)
c.1794_1799dup (p.Gly600_Gly601insGlyGly)
c.2208_2213dup (p.Gly738_Gly739insGlyGly)
c.2202_2207dup (p.Gly736_Gly737insGlyGly)
c.2199_2204dup (p.Gly735_Gly736insGlyGly)
c.2259_2264dup (p.Gly755_Gly756insGlyGly)
c.2250_2255dup (p.Gly752_Gly753insGlyGly)
c.2169_2174dup (p.Gly725_Gly726insGlyGly)
c.2118_2123dup (p.Gly708_Gly709insGlyGly)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800407_33800412delCA2624512032NPAS3c.2100_2105del (p.Gly701_Gly702del)
c.2109_2114del (p.Gly704_Gly705del)
c.2000_2005del
c.793+2826_793+2831del
c.2004_2009del (p.Gly669_Gly670del)
c.2061_2066del (p.Gly688_Gly689del)
c.2010_2015del (p.Gly671_Gly672del)
c.2115_2120del (p.Gly706_Gly707del)
c.2022_2027del (p.Gly675_Gly676del)
c.2121_2126del (p.Gly708_Gly709del)
c.2151_2156del (p.Gly718_Gly719del)
c.2142_2147del (p.Gly715_Gly716del)
c.2112_2117del (p.Gly705_Gly706del)
c.2055_2060del (p.Gly686_Gly687del)
c.2001_2006del (p.Gly668_Gly669del)
c.1794_1799del (p.Gly599_Gly600del)
c.2208_2213del (p.Gly737_Gly738del)
c.2202_2207del (p.Gly735_Gly736del)
c.2199_2204del (p.Gly734_Gly735del)
c.2259_2264del (p.Gly754_Gly755del)
c.2250_2255del (p.Gly751_Gly752del)
c.2169_2174del (p.Gly724_Gly725del)
c.2118_2123del (p.Gly707_Gly708del)
 gnomAD v4
14g.33800403G>ACA389413891NPAS3c.2096G>A (p.Gly699Asp)
c.2105G>A (p.Gly702Asp)
c.1996G>A
c.793+2822G>A
c.2000G>A (p.Gly667Asp)
c.2057G>A (p.Gly686Asp)
c.2006G>A (p.Gly669Asp)
c.2111G>A (p.Gly704Asp)
c.2018G>A (p.Gly673Asp)
c.2117G>A (p.Gly706Asp)
c.2147G>A (p.Gly716Asp)
c.2138G>A (p.Gly713Asp)
c.2108G>A (p.Gly703Asp)
c.2051G>A (p.Gly684Asp)
c.1997G>A (p.Gly666Asp)
c.1790G>A (p.Gly597Asp)
c.2204G>A (p.Gly735Asp)
c.2198G>A (p.Gly733Asp)
c.2195G>A (p.Gly732Asp)
c.2255G>A (p.Gly752Asp)
c.2246G>A (p.Gly749Asp)
c.2165G>A (p.Gly722Asp)
c.2114G>A (p.Gly705Asp)
 gnomAD v4
14g.33800403G>CCA389413893NPAS3c.2096G>C (p.Gly699Ala)
c.2105G>C (p.Gly702Ala)
c.1996G>C
c.793+2822G>C
c.2000G>C (p.Gly667Ala)
c.2057G>C (p.Gly686Ala)
c.2006G>C (p.Gly669Ala)
c.2111G>C (p.Gly704Ala)
c.2018G>C (p.Gly673Ala)
c.2117G>C (p.Gly706Ala)
c.2147G>C (p.Gly716Ala)
c.2138G>C (p.Gly713Ala)
c.2108G>C (p.Gly703Ala)
c.2051G>C (p.Gly684Ala)
c.1997G>C (p.Gly666Ala)
c.1790G>C (p.Gly597Ala)
c.2204G>C (p.Gly735Ala)
c.2198G>C (p.Gly733Ala)
c.2195G>C (p.Gly732Ala)
c.2255G>C (p.Gly752Ala)
c.2246G>C (p.Gly749Ala)
c.2165G>C (p.Gly722Ala)
c.2114G>C (p.Gly705Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800403G=CA2128327395NPAS3c.2096G= (p.Gly699=)
c.2105G= (p.Gly702=)
c.1996G=
c.793+2822G=
c.2000G= (p.Gly667=)
c.2057G= (p.Gly686=)
c.2006G= (p.Gly669=)
c.2111G= (p.Gly704=)
c.2018G= (p.Gly673=)
c.2117G= (p.Gly706=)
c.2147G= (p.Gly716=)
c.2138G= (p.Gly713=)
c.2108G= (p.Gly703=)
c.2051G= (p.Gly684=)
c.1997G= (p.Gly666=)
c.1790G= (p.Gly597=)
c.2204G= (p.Gly735=)
c.2198G= (p.Gly733=)
c.2195G= (p.Gly732=)
c.2255G= (p.Gly752=)
c.2246G= (p.Gly749=)
c.2165G= (p.Gly722=)
c.2114G= (p.Gly705=)
14g.33800403G>TCA389413894NPAS3c.2096G>T (p.Gly699Val)
c.2105G>T (p.Gly702Val)
c.1996G>T
c.793+2822G>T
c.2000G>T (p.Gly667Val)
c.2057G>T (p.Gly686Val)
c.2006G>T (p.Gly669Val)
c.2111G>T (p.Gly704Val)
c.2018G>T (p.Gly673Val)
c.2117G>T (p.Gly706Val)
c.2147G>T (p.Gly716Val)
c.2138G>T (p.Gly713Val)
c.2108G>T (p.Gly703Val)
c.2051G>T (p.Gly684Val)
c.1997G>T (p.Gly666Val)
c.1790G>T (p.Gly597Val)
c.2204G>T (p.Gly735Val)
c.2198G>T (p.Gly733Val)
c.2195G>T (p.Gly732Val)
c.2255G>T (p.Gly752Val)
c.2246G>T (p.Gly749Val)
c.2165G>T (p.Gly722Val)
c.2114G>T (p.Gly705Val)
14g.33800404_33800411delCA2521474768NPAS3c.2097_2104del (p.Gly700ArgfsTer?)
c.2106_2113del (p.Gly703ArgfsTer?)
c.1997_2004del
c.793+2823_793+2830del
c.2001_2008del (p.Gly668ArgfsTer?)
c.2058_2065del (p.Gly687ArgfsTer?)
c.2007_2014del (p.Gly670ArgfsTer?)
c.2112_2119del (p.Gly705ArgfsTer?)
c.2019_2026del (p.Gly674ArgfsTer?)
c.2118_2125del (p.Gly707ArgfsTer?)
c.2148_2155del (p.Gly717ArgfsTer?)
c.2139_2146del (p.Gly714ArgfsTer?)
c.2109_2116del (p.Gly704ArgfsTer?)
c.2052_2059del (p.Gly685ArgfsTer?)
c.1998_2005del (p.Gly667ArgfsTer?)
c.1791_1798del (p.Gly598ArgfsTer?)
c.2205_2212del (p.Gly736ArgfsTer?)
c.2199_2206del (p.Gly734ArgfsTer?)
c.2196_2203del (p.Gly733ArgfsTer?)
c.2256_2263del (p.Gly753ArgfsTer?)
c.2247_2254del (p.Gly750ArgfsTer?)
c.2166_2173del (p.Gly723ArgfsTer?)
c.2115_2122del (p.Gly706ArgfsTer?)
14g.33800404delCA2624512033NPAS3c.2097del (p.Gly701ValfsTer?)
c.2106del (p.Gly704ValfsTer?)
c.1997del
c.793+2823del
c.2001del (p.Gly669ValfsTer?)
c.2058del (p.Gly688ValfsTer?)
c.2007del (p.Gly671ValfsTer?)
c.2112del (p.Gly706ValfsTer?)
c.2019del (p.Gly675ValfsTer?)
c.2118del (p.Gly708ValfsTer?)
c.2148del (p.Gly718ValfsTer?)
c.2139del (p.Gly715ValfsTer?)
c.2109del (p.Gly705ValfsTer?)
c.2052del (p.Gly686ValfsTer?)
c.1998del (p.Gly668ValfsTer?)
c.1791del (p.Gly599ValfsTer?)
c.2205del (p.Gly737ValfsTer?)
c.2199del (p.Gly735ValfsTer?)
c.2196del (p.Gly734ValfsTer?)
c.2256del (p.Gly754ValfsTer?)
c.2247del (p.Gly751ValfsTer?)
c.2166del (p.Gly724ValfsTer?)
c.2115del (p.Gly707ValfsTer?)
 gnomAD v4
14g.33800404T>ACA486093107NPAS3c.2097T>A (p.Gly699=)
c.2106T>A (p.Gly702=)
c.1997T>A
c.793+2823T>A
c.2001T>A (p.Gly667=)
c.2058T>A (p.Gly686=)
c.2007T>A (p.Gly669=)
c.2112T>A (p.Gly704=)
c.2019T>A (p.Gly673=)
c.2118T>A (p.Gly706=)
c.2148T>A (p.Gly716=)
c.2139T>A (p.Gly713=)
c.2109T>A (p.Gly703=)
c.2052T>A (p.Gly684=)
c.1998T>A (p.Gly666=)
c.1791T>A (p.Gly597=)
c.2205T>A (p.Gly735=)
c.2199T>A (p.Gly733=)
c.2196T>A (p.Gly732=)
c.2256T>A (p.Gly752=)
c.2247T>A (p.Gly749=)
c.2166T>A (p.Gly722=)
c.2115T>A (p.Gly705=)
14g.33800404T>CCA7150939NPAS3c.2097T>C (p.Gly699=)
c.2106T>C (p.Gly702=)
c.1997T>C
c.793+2823T>C
c.2001T>C (p.Gly667=)
c.2058T>C (p.Gly686=)
c.2007T>C (p.Gly669=)
c.2112T>C (p.Gly704=)
c.2019T>C (p.Gly673=)
c.2118T>C (p.Gly706=)
c.2148T>C (p.Gly716=)
c.2139T>C (p.Gly713=)
c.2109T>C (p.Gly703=)
c.2052T>C (p.Gly684=)
c.1998T>C (p.Gly666=)
c.1791T>C (p.Gly597=)
c.2205T>C (p.Gly735=)
c.2199T>C (p.Gly733=)
c.2196T>C (p.Gly732=)
c.2256T>C (p.Gly752=)
c.2247T>C (p.Gly749=)
c.2166T>C (p.Gly722=)
c.2115T>C (p.Gly705=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800404T>GCA7150938NPAS3c.2097T>G (p.Gly699=)
c.2106T>G (p.Gly702=)
c.1997T>G
c.793+2823T>G
c.2001T>G (p.Gly667=)
c.2058T>G (p.Gly686=)
c.2007T>G (p.Gly669=)
c.2112T>G (p.Gly704=)
c.2019T>G (p.Gly673=)
c.2118T>G (p.Gly706=)
c.2148T>G (p.Gly716=)
c.2139T>G (p.Gly713=)
c.2109T>G (p.Gly703=)
c.2052T>G (p.Gly684=)
c.1998T>G (p.Gly666=)
c.1791T>G (p.Gly597=)
c.2205T>G (p.Gly735=)
c.2199T>G (p.Gly733=)
c.2196T>G (p.Gly732=)
c.2256T>G (p.Gly752=)
c.2247T>G (p.Gly749=)
c.2166T>G (p.Gly722=)
c.2115T>G (p.Gly705=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800404T=CA2128327404NPAS3c.2097T= (p.Gly699=)
c.2106T= (p.Gly702=)
c.1997T=
c.793+2823T=
c.2001T= (p.Gly667=)
c.2058T= (p.Gly686=)
c.2007T= (p.Gly669=)
c.2112T= (p.Gly704=)
c.2019T= (p.Gly673=)
c.2118T= (p.Gly706=)
c.2148T= (p.Gly716=)
c.2139T= (p.Gly713=)
c.2109T= (p.Gly703=)
c.2052T= (p.Gly684=)
c.1998T= (p.Gly666=)
c.1791T= (p.Gly597=)
c.2205T= (p.Gly735=)
c.2199T= (p.Gly733=)
c.2196T= (p.Gly732=)
c.2256T= (p.Gly752=)
c.2247T= (p.Gly749=)
c.2166T= (p.Gly722=)
c.2115T= (p.Gly705=)
14g.33800404_33800422delinsTGGGGGTGGCGGTGGCGGGCA2128327402NPAS3c.2097_2115delinsTGGGGGTGGCGGTGGCGGG (p.Gly699=)
c.2106_2124delinsTGGGGGTGGCGGTGGCGGG (p.Gly702=)
c.1997_2015delinsTGGGGGTGGCGGTGGCGGG
c.793+2823_793+2841delinsTGGGGGTGGCGGTGGCGGG
c.2001_2019delinsTGGGGGTGGCGGTGGCGGG (p.Gly667=)
c.2058_2076delinsTGGGGGTGGCGGTGGCGGG (p.Gly686=)
c.2007_2025delinsTGGGGGTGGCGGTGGCGGG (p.Gly669=)
c.2112_2130delinsTGGGGGTGGCGGTGGCGGG (p.Gly704=)
c.2019_2037delinsTGGGGGTGGCGGTGGCGGG (p.Gly673=)
c.2118_2136delinsTGGGGGTGGCGGTGGCGGG (p.Gly706=)
c.2148_2166delinsTGGGGGTGGCGGTGGCGGG (p.Gly716=)
c.2139_2157delinsTGGGGGTGGCGGTGGCGGG (p.Gly713=)
c.2109_2127delinsTGGGGGTGGCGGTGGCGGG (p.Gly703=)
c.2052_2070delinsTGGGGGTGGCGGTGGCGGG (p.Gly684=)
c.1998_2016delinsTGGGGGTGGCGGTGGCGGG (p.Gly666=)
c.1791_1809delinsTGGGGGTGGCGGTGGCGGG (p.Gly597=)
c.2205_2223delinsTGGGGGTGGCGGTGGCGGG (p.Gly735=)
c.2199_2217delinsTGGGGGTGGCGGTGGCGGG (p.Gly733=)
c.2196_2214delinsTGGGGGTGGCGGTGGCGGG (p.Gly732=)
c.2256_2274delinsTGGGGGTGGCGGTGGCGGG (p.Gly752=)
c.2247_2265delinsTGGGGGTGGCGGTGGCGGG (p.Gly749=)
c.2166_2184delinsTGGGGGTGGCGGTGGCGGG (p.Gly722=)
c.2115_2133delinsTGGGGGTGGCGGTGGCGGG (p.Gly705=)
14g.33800405G>ACA258719120NPAS3c.2098G>A (p.Gly700Arg)
c.2107G>A (p.Gly703Arg)
c.1998G>A
c.793+2824G>A
c.2002G>A (p.Gly668Arg)
c.2059G>A (p.Gly687Arg)
c.2008G>A (p.Gly670Arg)
c.2113G>A (p.Gly705Arg)
c.2020G>A (p.Gly674Arg)
c.2119G>A (p.Gly707Arg)
c.2149G>A (p.Gly717Arg)
c.2140G>A (p.Gly714Arg)
c.2110G>A (p.Gly704Arg)
c.2053G>A (p.Gly685Arg)
c.1999G>A (p.Gly667Arg)
c.1792G>A (p.Gly598Arg)
c.2206G>A (p.Gly736Arg)
c.2200G>A (p.Gly734Arg)
c.2197G>A (p.Gly733Arg)
c.2257G>A (p.Gly753Arg)
c.2248G>A (p.Gly750Arg)
c.2167G>A (p.Gly723Arg)
c.2116G>A (p.Gly706Arg)
 dbSNP gnomAD v2 gnomAD v4
14g.33800405G>CCA389413901NPAS3c.2098G>C (p.Gly700Arg)
c.2107G>C (p.Gly703Arg)
c.1998G>C
c.793+2824G>C
c.2002G>C (p.Gly668Arg)
c.2059G>C (p.Gly687Arg)
c.2008G>C (p.Gly670Arg)
c.2113G>C (p.Gly705Arg)
c.2020G>C (p.Gly674Arg)
c.2119G>C (p.Gly707Arg)
c.2149G>C (p.Gly717Arg)
c.2140G>C (p.Gly714Arg)
c.2110G>C (p.Gly704Arg)
c.2053G>C (p.Gly685Arg)
c.1999G>C (p.Gly667Arg)
c.1792G>C (p.Gly598Arg)
c.2206G>C (p.Gly736Arg)
c.2200G>C (p.Gly734Arg)
c.2197G>C (p.Gly733Arg)
c.2257G>C (p.Gly753Arg)
c.2248G>C (p.Gly750Arg)
c.2167G>C (p.Gly723Arg)
c.2116G>C (p.Gly706Arg)
14g.33800405G=CA2128327411NPAS3c.2098G= (p.Gly700=)
c.2107G= (p.Gly703=)
c.1998G=
c.793+2824G=
c.2002G= (p.Gly668=)
c.2059G= (p.Gly687=)
c.2008G= (p.Gly670=)
c.2113G= (p.Gly705=)
c.2020G= (p.Gly674=)
c.2119G= (p.Gly707=)
c.2149G= (p.Gly717=)
c.2140G= (p.Gly714=)
c.2110G= (p.Gly704=)
c.2053G= (p.Gly685=)
c.1999G= (p.Gly667=)
c.1792G= (p.Gly598=)
c.2206G= (p.Gly736=)
c.2200G= (p.Gly734=)
c.2197G= (p.Gly733=)
c.2257G= (p.Gly753=)
c.2248G= (p.Gly750=)
c.2167G= (p.Gly723=)
c.2116G= (p.Gly706=)
14g.33800405G>TCA389413903NPAS3c.2098G>T (p.Gly700Trp)
c.2107G>T (p.Gly703Trp)
c.1998G>T
c.793+2824G>T
c.2002G>T (p.Gly668Trp)
c.2059G>T (p.Gly687Trp)
c.2008G>T (p.Gly670Trp)
c.2113G>T (p.Gly705Trp)
c.2020G>T (p.Gly674Trp)
c.2119G>T (p.Gly707Trp)
c.2149G>T (p.Gly717Trp)
c.2140G>T (p.Gly714Trp)
c.2110G>T (p.Gly704Trp)
c.2053G>T (p.Gly685Trp)
c.1999G>T (p.Gly667Trp)
c.1792G>T (p.Gly598Trp)
c.2206G>T (p.Gly736Trp)
c.2200G>T (p.Gly734Trp)
c.2197G>T (p.Gly733Trp)
c.2257G>T (p.Gly753Trp)
c.2248G>T (p.Gly750Trp)
c.2167G>T (p.Gly723Trp)
c.2116G>T (p.Gly706Trp)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800409dupCA258719119NPAS3c.2102dup (p.Gly702TrpfsTer?)
c.2111dup (p.Gly705TrpfsTer?)
c.2002dup
c.793+2828dup
c.2006dup (p.Gly670TrpfsTer?)
c.2063dup (p.Gly689TrpfsTer?)
c.2012dup (p.Gly672TrpfsTer?)
c.2117dup (p.Gly707TrpfsTer?)
c.2024dup (p.Gly676TrpfsTer?)
c.2123dup (p.Gly709TrpfsTer?)
c.2153dup (p.Gly719TrpfsTer?)
c.2144dup (p.Gly716TrpfsTer?)
c.2114dup (p.Gly706TrpfsTer?)
c.2057dup (p.Gly687TrpfsTer?)
c.2003dup (p.Gly669TrpfsTer?)
c.1796dup (p.Gly600TrpfsTer?)
c.2210dup (p.Gly738TrpfsTer?)
c.2204dup (p.Gly736TrpfsTer?)
c.2201dup (p.Gly735TrpfsTer?)
c.2261dup (p.Gly755TrpfsTer?)
c.2252dup (p.Gly752TrpfsTer?)
c.2171dup (p.Gly725TrpfsTer?)
c.2120dup (p.Gly708TrpfsTer?)
 dbSNP
14g.33800409delCA2624512034NPAS3c.2102del (p.Gly701ValfsTer?)
c.2111del (p.Gly704ValfsTer?)
c.2002del
c.793+2828del
c.2006del (p.Gly669ValfsTer?)
c.2063del (p.Gly688ValfsTer?)
c.2012del (p.Gly671ValfsTer?)
c.2117del (p.Gly706ValfsTer?)
c.2024del (p.Gly675ValfsTer?)
c.2123del (p.Gly708ValfsTer?)
c.2153del (p.Gly718ValfsTer?)
c.2144del (p.Gly715ValfsTer?)
c.2114del (p.Gly705ValfsTer?)
c.2057del (p.Gly686ValfsTer?)
c.2003del (p.Gly668ValfsTer?)
c.1796del (p.Gly599ValfsTer?)
c.2210del (p.Gly737ValfsTer?)
c.2204del (p.Gly735ValfsTer?)
c.2201del (p.Gly734ValfsTer?)
c.2261del (p.Gly754ValfsTer?)
c.2252del (p.Gly751ValfsTer?)
c.2171del (p.Gly724ValfsTer?)
c.2120del (p.Gly707ValfsTer?)
 gnomAD v4
14g.33800408_33800425delCA961818497NPAS3c.2101_2118del (p.Gly701_Gly706del)
c.2110_2127del (p.Gly704_Gly709del)
c.2001_2018del
c.793+2827_793+2844del
c.2005_2022del (p.Gly669_Gly674del)
c.2062_2079del (p.Gly688_Gly693del)
c.2011_2028del (p.Gly671_Gly676del)
c.2116_2133del (p.Gly706_Gly711del)
c.2023_2040del (p.Gly675_Gly680del)
c.2122_2139del (p.Gly708_Gly713del)
c.2152_2169del (p.Gly718_Gly723del)
c.2143_2160del (p.Gly715_Gly720del)
c.2113_2130del (p.Gly705_Gly710del)
c.2056_2073del (p.Gly686_Gly691del)
c.2002_2019del (p.Gly668_Gly673del)
c.1795_1812del (p.Gly599_Gly604del)
c.2209_2226del (p.Gly737_Gly742del)
c.2203_2220del (p.Gly735_Gly740del)
c.2200_2217del (p.Gly734_Gly739del)
c.2260_2277del (p.Gly754_Gly759del)
c.2251_2268del (p.Gly751_Gly756del)
c.2170_2187del (p.Gly724_Gly729del)
c.2119_2136del (p.Gly707_Gly712del)
 dbSNP gnomAD v3 gnomAD v4
14g.33800406G>ACA389413907NPAS3c.2099G>A (p.Gly700Glu)
c.2108G>A (p.Gly703Glu)
c.1999G>A
c.793+2825G>A
c.2003G>A (p.Gly668Glu)
c.2060G>A (p.Gly687Glu)
c.2009G>A (p.Gly670Glu)
c.2114G>A (p.Gly705Glu)
c.2021G>A (p.Gly674Glu)
c.2120G>A (p.Gly707Glu)
c.2150G>A (p.Gly717Glu)
c.2141G>A (p.Gly714Glu)
c.2111G>A (p.Gly704Glu)
c.2054G>A (p.Gly685Glu)
c.2000G>A (p.Gly667Glu)
c.1793G>A (p.Gly598Glu)
c.2207G>A (p.Gly736Glu)
c.2201G>A (p.Gly734Glu)
c.2198G>A (p.Gly733Glu)
c.2258G>A (p.Gly753Glu)
c.2249G>A (p.Gly750Glu)
c.2168G>A (p.Gly723Glu)
c.2117G>A (p.Gly706Glu)
 gnomAD v4
14g.33800406G>CCA389413909NPAS3c.2099G>C (p.Gly700Ala)
c.2108G>C (p.Gly703Ala)
c.1999G>C
c.793+2825G>C
c.2003G>C (p.Gly668Ala)
c.2060G>C (p.Gly687Ala)
c.2009G>C (p.Gly670Ala)
c.2114G>C (p.Gly705Ala)
c.2021G>C (p.Gly674Ala)
c.2120G>C (p.Gly707Ala)
c.2150G>C (p.Gly717Ala)
c.2141G>C (p.Gly714Ala)
c.2111G>C (p.Gly704Ala)
c.2054G>C (p.Gly685Ala)
c.2000G>C (p.Gly667Ala)
c.1793G>C (p.Gly598Ala)
c.2207G>C (p.Gly736Ala)
c.2201G>C (p.Gly734Ala)
c.2198G>C (p.Gly733Ala)
c.2258G>C (p.Gly753Ala)
c.2249G>C (p.Gly750Ala)
c.2168G>C (p.Gly723Ala)
c.2117G>C (p.Gly706Ala)
 gnomAD v4
14g.33800406G>TCA389413905NPAS3c.2099G>T (p.Gly700Val)
c.2108G>T (p.Gly703Val)
c.1999G>T
c.793+2825G>T
c.2003G>T (p.Gly668Val)
c.2060G>T (p.Gly687Val)
c.2009G>T (p.Gly670Val)
c.2114G>T (p.Gly705Val)
c.2021G>T (p.Gly674Val)
c.2120G>T (p.Gly707Val)
c.2150G>T (p.Gly717Val)
c.2141G>T (p.Gly714Val)
c.2111G>T (p.Gly704Val)
c.2054G>T (p.Gly685Val)
c.2000G>T (p.Gly667Val)
c.1793G>T (p.Gly598Val)
c.2207G>T (p.Gly736Val)
c.2201G>T (p.Gly734Val)
c.2198G>T (p.Gly733Val)
c.2258G>T (p.Gly753Val)
c.2249G>T (p.Gly750Val)
c.2168G>T (p.Gly723Val)
c.2117G>T (p.Gly706Val)
14g.33800407G>ACA486093108NPAS3c.2100G>A (p.Gly700=)
c.2109G>A (p.Gly703=)
c.2000G>A
c.793+2826G>A
c.2004G>A (p.Gly668=)
c.2061G>A (p.Gly687=)
c.2010G>A (p.Gly670=)
c.2115G>A (p.Gly705=)
c.2022G>A (p.Gly674=)
c.2121G>A (p.Gly707=)
c.2151G>A (p.Gly717=)
c.2142G>A (p.Gly714=)
c.2112G>A (p.Gly704=)
c.2055G>A (p.Gly685=)
c.2001G>A (p.Gly667=)
c.1794G>A (p.Gly598=)
c.2208G>A (p.Gly736=)
c.2202G>A (p.Gly734=)
c.2199G>A (p.Gly733=)
c.2259G>A (p.Gly753=)
c.2250G>A (p.Gly750=)
c.2169G>A (p.Gly723=)
c.2118G>A (p.Gly706=)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800407G>CCA486093109NPAS3c.2100G>C (p.Gly700=)
c.2109G>C (p.Gly703=)
c.2000G>C
c.793+2826G>C
c.2004G>C (p.Gly668=)
c.2061G>C (p.Gly687=)
c.2010G>C (p.Gly670=)
c.2115G>C (p.Gly705=)
c.2022G>C (p.Gly674=)
c.2121G>C (p.Gly707=)
c.2151G>C (p.Gly717=)
c.2142G>C (p.Gly714=)
c.2112G>C (p.Gly704=)
c.2055G>C (p.Gly685=)
c.2001G>C (p.Gly667=)
c.1794G>C (p.Gly598=)
c.2208G>C (p.Gly736=)
c.2202G>C (p.Gly734=)
c.2199G>C (p.Gly733=)
c.2259G>C (p.Gly753=)
c.2250G>C (p.Gly750=)
c.2169G>C (p.Gly723=)
c.2118G>C (p.Gly706=)
14g.33800407G>TCA486093110NPAS3c.2100G>T (p.Gly700=)
c.2109G>T (p.Gly703=)
c.2000G>T
c.793+2826G>T
c.2004G>T (p.Gly668=)
c.2061G>T (p.Gly687=)
c.2010G>T (p.Gly670=)
c.2115G>T (p.Gly705=)
c.2022G>T (p.Gly674=)
c.2121G>T (p.Gly707=)
c.2151G>T (p.Gly717=)
c.2142G>T (p.Gly714=)
c.2112G>T (p.Gly704=)
c.2055G>T (p.Gly685=)
c.2001G>T (p.Gly667=)
c.1794G>T (p.Gly598=)
c.2208G>T (p.Gly736=)
c.2202G>T (p.Gly734=)
c.2199G>T (p.Gly733=)
c.2259G>T (p.Gly753=)
c.2250G>T (p.Gly750=)
c.2169G>T (p.Gly723=)
c.2118G>T (p.Gly706=)
 gnomAD v4
14g.33800407_33800413delinsGGGTGGCCA2128327415NPAS3c.2100_2106delinsGGGTGGC (p.Gly700=)
c.2109_2115delinsGGGTGGC (p.Gly703=)
c.2000_2006delinsGGGTGGC
c.793+2826_793+2832delinsGGGTGGC
c.2004_2010delinsGGGTGGC (p.Gly668=)
c.2061_2067delinsGGGTGGC (p.Gly687=)
c.2010_2016delinsGGGTGGC (p.Gly670=)
c.2115_2121delinsGGGTGGC (p.Gly705=)
c.2022_2028delinsGGGTGGC (p.Gly674=)
c.2121_2127delinsGGGTGGC (p.Gly707=)
c.2151_2157delinsGGGTGGC (p.Gly717=)
c.2142_2148delinsGGGTGGC (p.Gly714=)
c.2112_2118delinsGGGTGGC (p.Gly704=)
c.2055_2061delinsGGGTGGC (p.Gly685=)
c.2001_2007delinsGGGTGGC (p.Gly667=)
c.1794_1800delinsGGGTGGC (p.Gly598=)
c.2208_2214delinsGGGTGGC (p.Gly736=)
c.2202_2208delinsGGGTGGC (p.Gly734=)
c.2199_2205delinsGGGTGGC (p.Gly733=)
c.2259_2265delinsGGGTGGC (p.Gly753=)
c.2250_2256delinsGGGTGGC (p.Gly750=)
c.2169_2175delinsGGGTGGC (p.Gly723=)
c.2118_2124delinsGGGTGGC (p.Gly706=)
14g.33800408G>ACA7150941NPAS3c.2101G>A (p.Gly701Ser)
c.2110G>A (p.Gly704Ser)
c.2001G>A
c.793+2827G>A
c.2005G>A (p.Gly669Ser)
c.2062G>A (p.Gly688Ser)
c.2011G>A (p.Gly671Ser)
c.2116G>A (p.Gly706Ser)
c.2023G>A (p.Gly675Ser)
c.2122G>A (p.Gly708Ser)
c.2152G>A (p.Gly718Ser)
c.2143G>A (p.Gly715Ser)
c.2113G>A (p.Gly705Ser)
c.2056G>A (p.Gly686Ser)
c.2002G>A (p.Gly668Ser)
c.1795G>A (p.Gly599Ser)
c.2209G>A (p.Gly737Ser)
c.2203G>A (p.Gly735Ser)
c.2200G>A (p.Gly734Ser)
c.2260G>A (p.Gly754Ser)
c.2251G>A (p.Gly751Ser)
c.2170G>A (p.Gly724Ser)
c.2119G>A (p.Gly707Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800408G>CCA389413913NPAS3c.2101G>C (p.Gly701Arg)
c.2110G>C (p.Gly704Arg)
c.2001G>C
c.793+2827G>C
c.2005G>C (p.Gly669Arg)
c.2062G>C (p.Gly688Arg)
c.2011G>C (p.Gly671Arg)
c.2116G>C (p.Gly706Arg)
c.2023G>C (p.Gly675Arg)
c.2122G>C (p.Gly708Arg)
c.2152G>C (p.Gly718Arg)
c.2143G>C (p.Gly715Arg)
c.2113G>C (p.Gly705Arg)
c.2056G>C (p.Gly686Arg)
c.2002G>C (p.Gly668Arg)
c.1795G>C (p.Gly599Arg)
c.2209G>C (p.Gly737Arg)
c.2203G>C (p.Gly735Arg)
c.2200G>C (p.Gly734Arg)
c.2260G>C (p.Gly754Arg)
c.2251G>C (p.Gly751Arg)
c.2170G>C (p.Gly724Arg)
c.2119G>C (p.Gly707Arg)
 COSMIC COSMIC
14g.33800408G=CA2128327419NPAS3c.2101G= (p.Gly701=)
c.2110G= (p.Gly704=)
c.2001G=
c.793+2827G=
c.2005G= (p.Gly669=)
c.2062G= (p.Gly688=)
c.2011G= (p.Gly671=)
c.2116G= (p.Gly706=)
c.2023G= (p.Gly675=)
c.2122G= (p.Gly708=)
c.2152G= (p.Gly718=)
c.2143G= (p.Gly715=)
c.2113G= (p.Gly705=)
c.2056G= (p.Gly686=)
c.2002G= (p.Gly668=)
c.1795G= (p.Gly599=)
c.2209G= (p.Gly737=)
c.2203G= (p.Gly735=)
c.2200G= (p.Gly734=)
c.2260G= (p.Gly754=)
c.2251G= (p.Gly751=)
c.2170G= (p.Gly724=)
c.2119G= (p.Gly707=)
14g.33800408G>TCA389413915NPAS3c.2101G>T (p.Gly701Cys)
c.2110G>T (p.Gly704Cys)
c.2001G>T
c.793+2827G>T
c.2005G>T (p.Gly669Cys)
c.2062G>T (p.Gly688Cys)
c.2011G>T (p.Gly671Cys)
c.2116G>T (p.Gly706Cys)
c.2023G>T (p.Gly675Cys)
c.2122G>T (p.Gly708Cys)
c.2152G>T (p.Gly718Cys)
c.2143G>T (p.Gly715Cys)
c.2113G>T (p.Gly705Cys)
c.2056G>T (p.Gly686Cys)
c.2002G>T (p.Gly668Cys)
c.1795G>T (p.Gly599Cys)
c.2209G>T (p.Gly737Cys)
c.2203G>T (p.Gly735Cys)
c.2200G>T (p.Gly734Cys)
c.2260G>T (p.Gly754Cys)
c.2251G>T (p.Gly751Cys)
c.2170G>T (p.Gly724Cys)
c.2119G>T (p.Gly707Cys)
 gnomAD v4
14g.33800416_33800421dupCA7150940NPAS3c.2109_2114dup (p.Gly705_Gly706insGlyGly)
c.2118_2123dup (p.Gly708_Gly709insGlyGly)
c.2009_2014dup
c.793+2835_793+2840dup
c.2013_2018dup (p.Gly673_Gly674insGlyGly)
c.2070_2075dup (p.Gly692_Gly693insGlyGly)
c.2019_2024dup (p.Gly675_Gly676insGlyGly)
c.2124_2129dup (p.Gly710_Gly711insGlyGly)
c.2031_2036dup (p.Gly679_Gly680insGlyGly)
c.2130_2135dup (p.Gly712_Gly713insGlyGly)
c.2160_2165dup (p.Gly722_Gly723insGlyGly)
c.2151_2156dup (p.Gly719_Gly720insGlyGly)
c.2121_2126dup (p.Gly709_Gly710insGlyGly)
c.2064_2069dup (p.Gly690_Gly691insGlyGly)
c.2010_2015dup (p.Gly672_Gly673insGlyGly)
c.1803_1808dup (p.Gly603_Gly604insGlyGly)
c.2217_2222dup (p.Gly741_Gly742insGlyGly)
c.2211_2216dup (p.Gly739_Gly740insGlyGly)
c.2208_2213dup (p.Gly738_Gly739insGlyGly)
c.2268_2273dup (p.Gly758_Gly759insGlyGly)
c.2259_2264dup (p.Gly755_Gly756insGlyGly)
c.2178_2183dup (p.Gly728_Gly729insGlyGly)
c.2127_2132dup (p.Gly711_Gly712insGlyGly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800416_33800421delCA613803863NPAS3c.2109_2114del (p.Gly704_Gly705del)
c.2118_2123del (p.Gly707_Gly708del)
c.2009_2014del
c.793+2835_793+2840del
c.2013_2018del (p.Gly672_Gly673del)
c.2070_2075del (p.Gly691_Gly692del)
c.2019_2024del (p.Gly674_Gly675del)
c.2124_2129del (p.Gly709_Gly710del)
c.2031_2036del (p.Gly678_Gly679del)
c.2130_2135del (p.Gly711_Gly712del)
c.2160_2165del (p.Gly721_Gly722del)
c.2151_2156del (p.Gly718_Gly719del)
c.2121_2126del (p.Gly708_Gly709del)
c.2064_2069del (p.Gly689_Gly690del)
c.2010_2015del (p.Gly671_Gly672del)
c.1803_1808del (p.Gly602_Gly603del)
c.2217_2222del (p.Gly740_Gly741del)
c.2211_2216del (p.Gly738_Gly739del)
c.2208_2213del (p.Gly737_Gly738del)
c.2268_2273del (p.Gly757_Gly758del)
c.2259_2264del (p.Gly754_Gly755del)
c.2178_2183del (p.Gly727_Gly728del)
c.2127_2132del (p.Gly710_Gly711del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800408_33800431delinsGGTGGCGGTGGCGGGGGGCTGCACCA2128327418NPAS3c.2101_2124delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly701=)
c.2110_2133delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly704=)
c.2001_2024delinsGGTGGCGGTGGCGGGGGGCTGCAC
c.793+2827_793+2850delinsGGTGGCGGTGGCGGGGGGCTGCAC
c.2005_2028delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly669=)
c.2062_2085delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly688=)
c.2011_2034delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly671=)
c.2116_2139delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly706=)
c.2023_2046delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly675=)
c.2122_2145delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly708=)
c.2152_2175delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly718=)
c.2143_2166delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly715=)
c.2113_2136delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly705=)
c.2056_2079delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly686=)
c.2002_2025delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly668=)
c.1795_1818delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly599=)
c.2209_2232delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly737=)
c.2203_2226delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly735=)
c.2200_2223delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly734=)
c.2260_2283delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly754=)
c.2251_2274delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly751=)
c.2170_2193delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly724=)
c.2119_2142delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly707=)
14g.33800409G>ACA7150942NPAS3c.2102G>A (p.Gly701Asp)
c.2111G>A (p.Gly704Asp)
c.2002G>A
c.793+2828G>A
c.2006G>A (p.Gly669Asp)
c.2063G>A (p.Gly688Asp)
c.2012G>A (p.Gly671Asp)
c.2117G>A (p.Gly706Asp)
c.2024G>A (p.Gly675Asp)
c.2123G>A (p.Gly708Asp)
c.2153G>A (p.Gly718Asp)
c.2144G>A (p.Gly715Asp)
c.2114G>A (p.Gly705Asp)
c.2057G>A (p.Gly686Asp)
c.2003G>A (p.Gly668Asp)
c.1796G>A (p.Gly599Asp)
c.2210G>A (p.Gly737Asp)
c.2204G>A (p.Gly735Asp)
c.2201G>A (p.Gly734Asp)
c.2261G>A (p.Gly754Asp)
c.2252G>A (p.Gly751Asp)
c.2171G>A (p.Gly724Asp)
c.2120G>A (p.Gly707Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800409G>CCA389413918NPAS3c.2102G>C (p.Gly701Ala)
c.2111G>C (p.Gly704Ala)
c.2002G>C
c.793+2828G>C
c.2006G>C (p.Gly669Ala)
c.2063G>C (p.Gly688Ala)
c.2012G>C (p.Gly671Ala)
c.2117G>C (p.Gly706Ala)
c.2024G>C (p.Gly675Ala)
c.2123G>C (p.Gly708Ala)
c.2153G>C (p.Gly718Ala)
c.2144G>C (p.Gly715Ala)
c.2114G>C (p.Gly705Ala)
c.2057G>C (p.Gly686Ala)
c.2003G>C (p.Gly668Ala)
c.1796G>C (p.Gly599Ala)
c.2210G>C (p.Gly737Ala)
c.2204G>C (p.Gly735Ala)
c.2201G>C (p.Gly734Ala)
c.2261G>C (p.Gly754Ala)
c.2252G>C (p.Gly751Ala)
c.2171G>C (p.Gly724Ala)
c.2120G>C (p.Gly707Ala)
14g.33800409G=CA2128327423NPAS3c.2102G= (p.Gly701=)
c.2111G= (p.Gly704=)
c.2002G=
c.793+2828G=
c.2006G= (p.Gly669=)
c.2063G= (p.Gly688=)
c.2012G= (p.Gly671=)
c.2117G= (p.Gly706=)
c.2024G= (p.Gly675=)
c.2123G= (p.Gly708=)
c.2153G= (p.Gly718=)
c.2144G= (p.Gly715=)
c.2114G= (p.Gly705=)
c.2057G= (p.Gly686=)
c.2003G= (p.Gly668=)
c.1796G= (p.Gly599=)
c.2210G= (p.Gly737=)
c.2204G= (p.Gly735=)
c.2201G= (p.Gly734=)
c.2261G= (p.Gly754=)
c.2252G= (p.Gly751=)
c.2171G= (p.Gly724=)
c.2120G= (p.Gly707=)
14g.33800409G>TCA389413920NPAS3c.2102G>T (p.Gly701Val)
c.2111G>T (p.Gly704Val)
c.2002G>T
c.793+2828G>T
c.2006G>T (p.Gly669Val)
c.2063G>T (p.Gly688Val)
c.2012G>T (p.Gly671Val)
c.2117G>T (p.Gly706Val)
c.2024G>T (p.Gly675Val)
c.2123G>T (p.Gly708Val)
c.2153G>T (p.Gly718Val)
c.2144G>T (p.Gly715Val)
c.2114G>T (p.Gly705Val)
c.2057G>T (p.Gly686Val)
c.2003G>T (p.Gly668Val)
c.1796G>T (p.Gly599Val)
c.2210G>T (p.Gly737Val)
c.2204G>T (p.Gly735Val)
c.2201G>T (p.Gly734Val)
c.2261G>T (p.Gly754Val)
c.2252G>T (p.Gly751Val)
c.2171G>T (p.Gly724Val)
c.2120G>T (p.Gly707Val)
14g.33800414_33800436delCA961818523NPAS3c.2107_2129del (p.Gly703HisfsTer?)
c.2116_2138del (p.Gly706HisfsTer?)
c.2007_2029del
c.793+2833_793+2855del
c.2011_2033del (p.Gly671HisfsTer?)
c.2068_2090del (p.Gly690HisfsTer?)
c.2017_2039del (p.Gly673HisfsTer?)
c.2122_2144del (p.Gly708HisfsTer?)
c.2029_2051del (p.Gly677HisfsTer?)
c.2128_2150del (p.Gly710HisfsTer?)
c.2158_2180del (p.Gly720HisfsTer?)
c.2149_2171del (p.Gly717HisfsTer?)
c.2119_2141del (p.Gly707HisfsTer?)
c.2062_2084del (p.Gly688HisfsTer?)
c.2008_2030del (p.Gly670HisfsTer?)
c.1801_1823del (p.Gly601HisfsTer?)
c.2215_2237del (p.Gly739HisfsTer?)
c.2209_2231del (p.Gly737HisfsTer?)
c.2206_2228del (p.Gly736HisfsTer?)
c.2266_2288del (p.Gly756HisfsTer?)
c.2257_2279del (p.Gly753HisfsTer?)
c.2176_2198del (p.Gly726HisfsTer?)
c.2125_2147del (p.Gly709HisfsTer?)
 dbSNP gnomAD v3 gnomAD v4
14g.33800410T>ACA486093112NPAS3c.2103T>A (p.Gly701=)
c.2112T>A (p.Gly704=)
c.2003T>A
c.793+2829T>A
c.2007T>A (p.Gly669=)
c.2064T>A (p.Gly688=)
c.2013T>A (p.Gly671=)
c.2118T>A (p.Gly706=)
c.2025T>A (p.Gly675=)
c.2124T>A (p.Gly708=)
c.2154T>A (p.Gly718=)
c.2145T>A (p.Gly715=)
c.2115T>A (p.Gly705=)
c.2058T>A (p.Gly686=)
c.2004T>A (p.Gly668=)
c.1797T>A (p.Gly599=)
c.2211T>A (p.Gly737=)
c.2205T>A (p.Gly735=)
c.2202T>A (p.Gly734=)
c.2262T>A (p.Gly754=)
c.2253T>A (p.Gly751=)
c.2172T>A (p.Gly724=)
c.2121T>A (p.Gly707=)
14g.33800410T>CCA486093113NPAS3c.2103T>C (p.Gly701=)
c.2112T>C (p.Gly704=)
c.2003T>C
c.793+2829T>C
c.2007T>C (p.Gly669=)
c.2064T>C (p.Gly688=)
c.2013T>C (p.Gly671=)
c.2118T>C (p.Gly706=)
c.2025T>C (p.Gly675=)
c.2124T>C (p.Gly708=)
c.2154T>C (p.Gly718=)
c.2145T>C (p.Gly715=)
c.2115T>C (p.Gly705=)
c.2058T>C (p.Gly686=)
c.2004T>C (p.Gly668=)
c.1797T>C (p.Gly599=)
c.2211T>C (p.Gly737=)
c.2205T>C (p.Gly735=)
c.2202T>C (p.Gly734=)
c.2262T>C (p.Gly754=)
c.2253T>C (p.Gly751=)
c.2172T>C (p.Gly724=)
c.2121T>C (p.Gly707=)
 gnomAD v3 gnomAD v4
14g.33800410T>GCA7150943NPAS3c.2103T>G (p.Gly701=)
c.2112T>G (p.Gly704=)
c.2003T>G
c.793+2829T>G
c.2007T>G (p.Gly669=)
c.2064T>G (p.Gly688=)
c.2013T>G (p.Gly671=)
c.2118T>G (p.Gly706=)
c.2025T>G (p.Gly675=)
c.2124T>G (p.Gly708=)
c.2154T>G (p.Gly718=)
c.2145T>G (p.Gly715=)
c.2115T>G (p.Gly705=)
c.2058T>G (p.Gly686=)
c.2004T>G (p.Gly668=)
c.1797T>G (p.Gly599=)
c.2211T>G (p.Gly737=)
c.2205T>G (p.Gly735=)
c.2202T>G (p.Gly734=)
c.2262T>G (p.Gly754=)
c.2253T>G (p.Gly751=)
c.2172T>G (p.Gly724=)
c.2121T>G (p.Gly707=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800410T=CA2128327427NPAS3c.2103T= (p.Gly701=)
c.2112T= (p.Gly704=)
c.2003T=
c.793+2829T=
c.2007T= (p.Gly669=)
c.2064T= (p.Gly688=)
c.2013T= (p.Gly671=)
c.2118T= (p.Gly706=)
c.2025T= (p.Gly675=)
c.2124T= (p.Gly708=)
c.2154T= (p.Gly718=)
c.2145T= (p.Gly715=)
c.2115T= (p.Gly705=)
c.2058T= (p.Gly686=)
c.2004T= (p.Gly668=)
c.1797T= (p.Gly599=)
c.2211T= (p.Gly737=)
c.2205T= (p.Gly735=)
c.2202T= (p.Gly734=)
c.2262T= (p.Gly754=)
c.2253T= (p.Gly751=)
c.2172T= (p.Gly724=)
c.2121T= (p.Gly707=)
14g.33800411G>ACA7150944NPAS3c.2104G>A (p.Gly702Ser)
c.2113G>A (p.Gly705Ser)
c.2004G>A
c.793+2830G>A
c.2008G>A (p.Gly670Ser)
c.2065G>A (p.Gly689Ser)
c.2014G>A (p.Gly672Ser)
c.2119G>A (p.Gly707Ser)
c.2026G>A (p.Gly676Ser)
c.2125G>A (p.Gly709Ser)
c.2155G>A (p.Gly719Ser)
c.2146G>A (p.Gly716Ser)
c.2116G>A (p.Gly706Ser)
c.2059G>A (p.Gly687Ser)
c.2005G>A (p.Gly669Ser)
c.1798G>A (p.Gly600Ser)
c.2212G>A (p.Gly738Ser)
c.2206G>A (p.Gly736Ser)
c.2203G>A (p.Gly735Ser)
c.2263G>A (p.Gly755Ser)
c.2254G>A (p.Gly752Ser)
c.2173G>A (p.Gly725Ser)
c.2122G>A (p.Gly708Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800411G>CCA389413926NPAS3c.2104G>C (p.Gly702Arg)
c.2113G>C (p.Gly705Arg)
c.2004G>C
c.793+2830G>C
c.2008G>C (p.Gly670Arg)
c.2065G>C (p.Gly689Arg)
c.2014G>C (p.Gly672Arg)
c.2119G>C (p.Gly707Arg)
c.2026G>C (p.Gly676Arg)
c.2125G>C (p.Gly709Arg)
c.2155G>C (p.Gly719Arg)
c.2146G>C (p.Gly716Arg)
c.2116G>C (p.Gly706Arg)
c.2059G>C (p.Gly687Arg)
c.2005G>C (p.Gly669Arg)
c.1798G>C (p.Gly600Arg)
c.2212G>C (p.Gly738Arg)
c.2206G>C (p.Gly736Arg)
c.2203G>C (p.Gly735Arg)
c.2263G>C (p.Gly755Arg)
c.2254G>C (p.Gly752Arg)
c.2173G>C (p.Gly725Arg)
c.2122G>C (p.Gly708Arg)
14g.33800411G=CA2128327431NPAS3c.2104G= (p.Gly702=)
c.2113G= (p.Gly705=)
c.2004G=
c.793+2830G=
c.2008G= (p.Gly670=)
c.2065G= (p.Gly689=)
c.2014G= (p.Gly672=)
c.2119G= (p.Gly707=)
c.2026G= (p.Gly676=)
c.2125G= (p.Gly709=)
c.2155G= (p.Gly719=)
c.2146G= (p.Gly716=)
c.2116G= (p.Gly706=)
c.2059G= (p.Gly687=)
c.2005G= (p.Gly669=)
c.1798G= (p.Gly600=)
c.2212G= (p.Gly738=)
c.2206G= (p.Gly736=)
c.2203G= (p.Gly735=)
c.2263G= (p.Gly755=)
c.2254G= (p.Gly752=)
c.2173G= (p.Gly725=)
c.2122G= (p.Gly708=)
14g.33800411G>TCA389413928NPAS3c.2104G>T (p.Gly702Cys)
c.2113G>T (p.Gly705Cys)
c.2004G>T
c.793+2830G>T
c.2008G>T (p.Gly670Cys)
c.2065G>T (p.Gly689Cys)
c.2014G>T (p.Gly672Cys)
c.2119G>T (p.Gly707Cys)
c.2026G>T (p.Gly676Cys)
c.2125G>T (p.Gly709Cys)
c.2155G>T (p.Gly719Cys)
c.2146G>T (p.Gly716Cys)
c.2116G>T (p.Gly706Cys)
c.2059G>T (p.Gly687Cys)
c.2005G>T (p.Gly669Cys)
c.1798G>T (p.Gly600Cys)
c.2212G>T (p.Gly738Cys)
c.2206G>T (p.Gly736Cys)
c.2203G>T (p.Gly735Cys)
c.2263G>T (p.Gly755Cys)
c.2254G>T (p.Gly752Cys)
c.2173G>T (p.Gly725Cys)
c.2122G>T (p.Gly708Cys)
14g.33800413_33800421dupCA2624512035NPAS3c.2106_2114dup (p.Gly705_Gly706insGlyGlyGly)
c.2115_2123dup (p.Gly708_Gly709insGlyGlyGly)
c.2006_2014dup
c.793+2832_793+2840dup
c.2010_2018dup (p.Gly673_Gly674insGlyGlyGly)
c.2067_2075dup (p.Gly692_Gly693insGlyGlyGly)
c.2016_2024dup (p.Gly675_Gly676insGlyGlyGly)
c.2121_2129dup (p.Gly710_Gly711insGlyGlyGly)
c.2028_2036dup (p.Gly679_Gly680insGlyGlyGly)
c.2127_2135dup (p.Gly712_Gly713insGlyGlyGly)
c.2157_2165dup (p.Gly722_Gly723insGlyGlyGly)
c.2148_2156dup (p.Gly719_Gly720insGlyGlyGly)
c.2118_2126dup (p.Gly709_Gly710insGlyGlyGly)
c.2061_2069dup (p.Gly690_Gly691insGlyGlyGly)
c.2007_2015dup (p.Gly672_Gly673insGlyGlyGly)
c.1800_1808dup (p.Gly603_Gly604insGlyGlyGly)
c.2214_2222dup (p.Gly741_Gly742insGlyGlyGly)
c.2208_2216dup (p.Gly739_Gly740insGlyGlyGly)
c.2205_2213dup (p.Gly738_Gly739insGlyGlyGly)
c.2265_2273dup (p.Gly758_Gly759insGlyGlyGly)
c.2256_2264dup (p.Gly755_Gly756insGlyGlyGly)
c.2175_2183dup (p.Gly728_Gly729insGlyGlyGly)
c.2124_2132dup (p.Gly711_Gly712insGlyGlyGly)
 gnomAD v4
14g.33800412G>ACA389413934NPAS3c.2105G>A (p.Gly702Asp)
c.2114G>A (p.Gly705Asp)
c.2005G>A
c.793+2831G>A
c.2009G>A (p.Gly670Asp)
c.2066G>A (p.Gly689Asp)
c.2015G>A (p.Gly672Asp)
c.2120G>A (p.Gly707Asp)
c.2027G>A (p.Gly676Asp)
c.2126G>A (p.Gly709Asp)
c.2156G>A (p.Gly719Asp)
c.2147G>A (p.Gly716Asp)
c.2117G>A (p.Gly706Asp)
c.2060G>A (p.Gly687Asp)
c.2006G>A (p.Gly669Asp)
c.1799G>A (p.Gly600Asp)
c.2213G>A (p.Gly738Asp)
c.2207G>A (p.Gly736Asp)
c.2204G>A (p.Gly735Asp)
c.2264G>A (p.Gly755Asp)
c.2255G>A (p.Gly752Asp)
c.2174G>A (p.Gly725Asp)
c.2123G>A (p.Gly708Asp)
 dbSNP gnomAD v2 gnomAD v4
14g.33800412G>CCA389413932NPAS3c.2105G>C (p.Gly702Ala)
c.2114G>C (p.Gly705Ala)
c.2005G>C
c.793+2831G>C
c.2009G>C (p.Gly670Ala)
c.2066G>C (p.Gly689Ala)
c.2015G>C (p.Gly672Ala)
c.2120G>C (p.Gly707Ala)
c.2027G>C (p.Gly676Ala)
c.2126G>C (p.Gly709Ala)
c.2156G>C (p.Gly719Ala)
c.2147G>C (p.Gly716Ala)
c.2117G>C (p.Gly706Ala)
c.2060G>C (p.Gly687Ala)
c.2006G>C (p.Gly669Ala)
c.1799G>C (p.Gly600Ala)
c.2213G>C (p.Gly738Ala)
c.2207G>C (p.Gly736Ala)
c.2204G>C (p.Gly735Ala)
c.2264G>C (p.Gly755Ala)
c.2255G>C (p.Gly752Ala)
c.2174G>C (p.Gly725Ala)
c.2123G>C (p.Gly708Ala)
14g.33800412G=CA2128327436NPAS3c.2105G= (p.Gly702=)
c.2114G= (p.Gly705=)
c.2005G=
c.793+2831G=
c.2009G= (p.Gly670=)
c.2066G= (p.Gly689=)
c.2015G= (p.Gly672=)
c.2120G= (p.Gly707=)
c.2027G= (p.Gly676=)
c.2126G= (p.Gly709=)
c.2156G= (p.Gly719=)
c.2147G= (p.Gly716=)
c.2117G= (p.Gly706=)
c.2060G= (p.Gly687=)
c.2006G= (p.Gly669=)
c.1799G= (p.Gly600=)
c.2213G= (p.Gly738=)
c.2207G= (p.Gly736=)
c.2204G= (p.Gly735=)
c.2264G= (p.Gly755=)
c.2255G= (p.Gly752=)
c.2174G= (p.Gly725=)
c.2123G= (p.Gly708=)
14g.33800412G>TCA389413930NPAS3c.2105G>T (p.Gly702Val)
c.2114G>T (p.Gly705Val)
c.2005G>T
c.793+2831G>T
c.2009G>T (p.Gly670Val)
c.2066G>T (p.Gly689Val)
c.2015G>T (p.Gly672Val)
c.2120G>T (p.Gly707Val)
c.2027G>T (p.Gly676Val)
c.2126G>T (p.Gly709Val)
c.2156G>T (p.Gly719Val)
c.2147G>T (p.Gly716Val)
c.2117G>T (p.Gly706Val)
c.2060G>T (p.Gly687Val)
c.2006G>T (p.Gly669Val)
c.1799G>T (p.Gly600Val)
c.2213G>T (p.Gly738Val)
c.2207G>T (p.Gly736Val)
c.2204G>T (p.Gly735Val)
c.2264G>T (p.Gly755Val)
c.2255G>T (p.Gly752Val)
c.2174G>T (p.Gly725Val)
c.2123G>T (p.Gly708Val)
14g.33800413C>ACA486093116NPAS3c.2106C>A (p.Gly702=)
c.2115C>A (p.Gly705=)
c.2006C>A
c.793+2832C>A
c.2010C>A (p.Gly670=)
c.2067C>A (p.Gly689=)
c.2016C>A (p.Gly672=)
c.2121C>A (p.Gly707=)
c.2028C>A (p.Gly676=)
c.2127C>A (p.Gly709=)
c.2157C>A (p.Gly719=)
c.2148C>A (p.Gly716=)
c.2118C>A (p.Gly706=)
c.2061C>A (p.Gly687=)
c.2007C>A (p.Gly669=)
c.1800C>A (p.Gly600=)
c.2214C>A (p.Gly738=)
c.2208C>A (p.Gly736=)
c.2205C>A (p.Gly735=)
c.2265C>A (p.Gly755=)
c.2256C>A (p.Gly752=)
c.2175C>A (p.Gly725=)
c.2124C>A (p.Gly708=)
 gnomAD v4
14g.33800413C=CA2128327437NPAS3c.2106C= (p.Gly702=)
c.2115C= (p.Gly705=)
c.2006C=
c.793+2832C=
c.2010C= (p.Gly670=)
c.2067C= (p.Gly689=)
c.2016C= (p.Gly672=)
c.2121C= (p.Gly707=)
c.2028C= (p.Gly676=)
c.2127C= (p.Gly709=)
c.2157C= (p.Gly719=)
c.2148C= (p.Gly716=)
c.2118C= (p.Gly706=)
c.2061C= (p.Gly687=)
c.2007C= (p.Gly669=)
c.1800C= (p.Gly600=)
c.2214C= (p.Gly738=)
c.2208C= (p.Gly736=)
c.2205C= (p.Gly735=)
c.2265C= (p.Gly755=)
c.2256C= (p.Gly752=)
c.2175C= (p.Gly725=)
c.2124C= (p.Gly708=)
14g.33800413C>GCA486093117NPAS3c.2106C>G (p.Gly702=)
c.2115C>G (p.Gly705=)
c.2006C>G
c.793+2832C>G
c.2010C>G (p.Gly670=)
c.2067C>G (p.Gly689=)
c.2016C>G (p.Gly672=)
c.2121C>G (p.Gly707=)
c.2028C>G (p.Gly676=)
c.2127C>G (p.Gly709=)
c.2157C>G (p.Gly719=)
c.2148C>G (p.Gly716=)
c.2118C>G (p.Gly706=)
c.2061C>G (p.Gly687=)
c.2007C>G (p.Gly669=)
c.1800C>G (p.Gly600=)
c.2214C>G (p.Gly738=)
c.2208C>G (p.Gly736=)
c.2205C>G (p.Gly735=)
c.2265C>G (p.Gly755=)
c.2256C>G (p.Gly752=)
c.2175C>G (p.Gly725=)
c.2124C>G (p.Gly708=)
 dbSNP gnomAD v4
14g.33800413C>TCA486093119NPAS3c.2106C>T (p.Gly702=)
c.2115C>T (p.Gly705=)
c.2006C>T
c.793+2832C>T
c.2010C>T (p.Gly670=)
c.2067C>T (p.Gly689=)
c.2016C>T (p.Gly672=)
c.2121C>T (p.Gly707=)
c.2028C>T (p.Gly676=)
c.2127C>T (p.Gly709=)
c.2157C>T (p.Gly719=)
c.2148C>T (p.Gly716=)
c.2118C>T (p.Gly706=)
c.2061C>T (p.Gly687=)
c.2007C>T (p.Gly669=)
c.1800C>T (p.Gly600=)
c.2214C>T (p.Gly738=)
c.2208C>T (p.Gly736=)
c.2205C>T (p.Gly735=)
c.2265C>T (p.Gly755=)
c.2256C>T (p.Gly752=)
c.2175C>T (p.Gly725=)
c.2124C>T (p.Gly708=)
 gnomAD v4
14g.33800414G>ACA389413936NPAS3c.2107G>A (p.Gly703Ser)
c.2116G>A (p.Gly706Ser)
c.2007G>A
c.793+2833G>A
c.2011G>A (p.Gly671Ser)
c.2068G>A (p.Gly690Ser)
c.2017G>A (p.Gly673Ser)
c.2122G>A (p.Gly708Ser)
c.2029G>A (p.Gly677Ser)
c.2128G>A (p.Gly710Ser)
c.2158G>A (p.Gly720Ser)
c.2149G>A (p.Gly717Ser)
c.2119G>A (p.Gly707Ser)
c.2062G>A (p.Gly688Ser)
c.2008G>A (p.Gly670Ser)
c.1801G>A (p.Gly601Ser)
c.2215G>A (p.Gly739Ser)
c.2209G>A (p.Gly737Ser)
c.2206G>A (p.Gly736Ser)
c.2266G>A (p.Gly756Ser)
c.2257G>A (p.Gly753Ser)
c.2176G>A (p.Gly726Ser)
c.2125G>A (p.Gly709Ser)
 gnomAD v4
14g.33800414G>CCA389413938NPAS3c.2107G>C (p.Gly703Arg)
c.2116G>C (p.Gly706Arg)
c.2007G>C
c.793+2833G>C
c.2011G>C (p.Gly671Arg)
c.2068G>C (p.Gly690Arg)
c.2017G>C (p.Gly673Arg)
c.2122G>C (p.Gly708Arg)
c.2029G>C (p.Gly677Arg)
c.2128G>C (p.Gly710Arg)
c.2158G>C (p.Gly720Arg)
c.2149G>C (p.Gly717Arg)
c.2119G>C (p.Gly707Arg)
c.2062G>C (p.Gly688Arg)
c.2008G>C (p.Gly670Arg)
c.1801G>C (p.Gly601Arg)
c.2215G>C (p.Gly739Arg)
c.2209G>C (p.Gly737Arg)
c.2206G>C (p.Gly736Arg)
c.2266G>C (p.Gly756Arg)
c.2257G>C (p.Gly753Arg)
c.2176G>C (p.Gly726Arg)
c.2125G>C (p.Gly709Arg)
14g.33800414G>TCA389413940NPAS3c.2107G>T (p.Gly703Cys)
c.2116G>T (p.Gly706Cys)
c.2007G>T
c.793+2833G>T
c.2011G>T (p.Gly671Cys)
c.2068G>T (p.Gly690Cys)
c.2017G>T (p.Gly673Cys)
c.2122G>T (p.Gly708Cys)
c.2029G>T (p.Gly677Cys)
c.2128G>T (p.Gly710Cys)
c.2158G>T (p.Gly720Cys)
c.2149G>T (p.Gly717Cys)
c.2119G>T (p.Gly707Cys)
c.2062G>T (p.Gly688Cys)
c.2008G>T (p.Gly670Cys)
c.1801G>T (p.Gly601Cys)
c.2215G>T (p.Gly739Cys)
c.2209G>T (p.Gly737Cys)
c.2206G>T (p.Gly736Cys)
c.2266G>T (p.Gly756Cys)
c.2257G>T (p.Gly753Cys)
c.2176G>T (p.Gly726Cys)
c.2125G>T (p.Gly709Cys)
14g.33800416_33800418delCA2541428685NPAS3c.2109_2111del (p.Gly704del)
c.2118_2120del (p.Gly707del)
c.2009_2011del
c.793+2835_793+2837del
c.2013_2015del (p.Gly672del)
c.2070_2072del (p.Gly691del)
c.2019_2021del (p.Gly674del)
c.2124_2126del (p.Gly709del)
c.2031_2033del (p.Gly678del)
c.2130_2132del (p.Gly711del)
c.2160_2162del (p.Gly721del)
c.2151_2153del (p.Gly718del)
c.2121_2123del (p.Gly708del)
c.2064_2066del (p.Gly689del)
c.2010_2012del (p.Gly671del)
c.1803_1805del (p.Gly602del)
c.2217_2219del (p.Gly740del)
c.2211_2213del (p.Gly738del)
c.2208_2210del (p.Gly737del)
c.2268_2270del (p.Gly757del)
c.2259_2261del (p.Gly754del)
c.2178_2180del (p.Gly727del)
c.2127_2129del (p.Gly710del)
14g.33800415G>ACA389413942NPAS3c.2108G>A (p.Gly703Asp)
c.2117G>A (p.Gly706Asp)
c.2008G>A
c.793+2834G>A
c.2012G>A (p.Gly671Asp)
c.2069G>A (p.Gly690Asp)
c.2018G>A (p.Gly673Asp)
c.2123G>A (p.Gly708Asp)
c.2030G>A (p.Gly677Asp)
c.2129G>A (p.Gly710Asp)
c.2159G>A (p.Gly720Asp)
c.2150G>A (p.Gly717Asp)
c.2120G>A (p.Gly707Asp)
c.2063G>A (p.Gly688Asp)
c.2009G>A (p.Gly670Asp)
c.1802G>A (p.Gly601Asp)
c.2216G>A (p.Gly739Asp)
c.2210G>A (p.Gly737Asp)
c.2207G>A (p.Gly736Asp)
c.2267G>A (p.Gly756Asp)
c.2258G>A (p.Gly753Asp)
c.2177G>A (p.Gly726Asp)
c.2126G>A (p.Gly709Asp)
 gnomAD v4
14g.33800415G>CCA389413944NPAS3c.2108G>C (p.Gly703Ala)
c.2117G>C (p.Gly706Ala)
c.2008G>C
c.793+2834G>C
c.2012G>C (p.Gly671Ala)
c.2069G>C (p.Gly690Ala)
c.2018G>C (p.Gly673Ala)
c.2123G>C (p.Gly708Ala)
c.2030G>C (p.Gly677Ala)
c.2129G>C (p.Gly710Ala)
c.2159G>C (p.Gly720Ala)
c.2150G>C (p.Gly717Ala)
c.2120G>C (p.Gly707Ala)
c.2063G>C (p.Gly688Ala)
c.2009G>C (p.Gly670Ala)
c.1802G>C (p.Gly601Ala)
c.2216G>C (p.Gly739Ala)
c.2210G>C (p.Gly737Ala)
c.2207G>C (p.Gly736Ala)
c.2267G>C (p.Gly756Ala)
c.2258G>C (p.Gly753Ala)
c.2177G>C (p.Gly726Ala)
c.2126G>C (p.Gly709Ala)
14g.33800415G=CA2128327439NPAS3c.2108G= (p.Gly703=)
c.2117G= (p.Gly706=)
c.2008G=
c.793+2834G=
c.2012G= (p.Gly671=)
c.2069G= (p.Gly690=)
c.2018G= (p.Gly673=)
c.2123G= (p.Gly708=)
c.2030G= (p.Gly677=)
c.2129G= (p.Gly710=)
c.2159G= (p.Gly720=)
c.2150G= (p.Gly717=)
c.2120G= (p.Gly707=)
c.2063G= (p.Gly688=)
c.2009G= (p.Gly670=)
c.1802G= (p.Gly601=)
c.2216G= (p.Gly739=)
c.2210G= (p.Gly737=)
c.2207G= (p.Gly736=)
c.2267G= (p.Gly756=)
c.2258G= (p.Gly753=)
c.2177G= (p.Gly726=)
c.2126G= (p.Gly709=)
14g.33800415G>TCA389413946NPAS3c.2108G>T (p.Gly703Val)
c.2117G>T (p.Gly706Val)
c.2008G>T
c.793+2834G>T
c.2012G>T (p.Gly671Val)
c.2069G>T (p.Gly690Val)
c.2018G>T (p.Gly673Val)
c.2123G>T (p.Gly708Val)
c.2030G>T (p.Gly677Val)
c.2129G>T (p.Gly710Val)
c.2159G>T (p.Gly720Val)
c.2150G>T (p.Gly717Val)
c.2120G>T (p.Gly707Val)
c.2063G>T (p.Gly688Val)
c.2009G>T (p.Gly670Val)
c.1802G>T (p.Gly601Val)
c.2216G>T (p.Gly739Val)
c.2210G>T (p.Gly737Val)
c.2207G>T (p.Gly736Val)
c.2267G>T (p.Gly756Val)
c.2258G>T (p.Gly753Val)
c.2177G>T (p.Gly726Val)
c.2126G>T (p.Gly709Val)
 dbSNP gnomAD v3 gnomAD v4
14g.33800416T>ACA486093122NPAS3c.2109T>A (p.Gly703=)
c.2118T>A (p.Gly706=)
c.2009T>A
c.793+2835T>A
c.2013T>A (p.Gly671=)
c.2070T>A (p.Gly690=)
c.2019T>A (p.Gly673=)
c.2124T>A (p.Gly708=)
c.2031T>A (p.Gly677=)
c.2130T>A (p.Gly710=)
c.2160T>A (p.Gly720=)
c.2151T>A (p.Gly717=)
c.2121T>A (p.Gly707=)
c.2064T>A (p.Gly688=)
c.2010T>A (p.Gly670=)
c.1803T>A (p.Gly601=)
c.2217T>A (p.Gly739=)
c.2211T>A (p.Gly737=)
c.2208T>A (p.Gly736=)
c.2268T>A (p.Gly756=)
c.2259T>A (p.Gly753=)
c.2178T>A (p.Gly726=)
c.2127T>A (p.Gly709=)
14g.33800416T>CCA486093123NPAS3c.2109T>C (p.Gly703=)
c.2118T>C (p.Gly706=)
c.2009T>C
c.793+2835T>C
c.2013T>C (p.Gly671=)
c.2070T>C (p.Gly690=)
c.2019T>C (p.Gly673=)
c.2124T>C (p.Gly708=)
c.2031T>C (p.Gly677=)
c.2130T>C (p.Gly710=)
c.2160T>C (p.Gly720=)
c.2151T>C (p.Gly717=)
c.2121T>C (p.Gly707=)
c.2064T>C (p.Gly688=)
c.2010T>C (p.Gly670=)
c.1803T>C (p.Gly601=)
c.2217T>C (p.Gly739=)
c.2211T>C (p.Gly737=)
c.2208T>C (p.Gly736=)
c.2268T>C (p.Gly756=)
c.2259T>C (p.Gly753=)
c.2178T>C (p.Gly726=)
c.2127T>C (p.Gly709=)
14g.33800416T>GCA486093124NPAS3c.2109T>G (p.Gly703=)
c.2118T>G (p.Gly706=)
c.2009T>G
c.793+2835T>G
c.2013T>G (p.Gly671=)
c.2070T>G (p.Gly690=)
c.2019T>G (p.Gly673=)
c.2124T>G (p.Gly708=)
c.2031T>G (p.Gly677=)
c.2130T>G (p.Gly710=)
c.2160T>G (p.Gly720=)
c.2151T>G (p.Gly717=)
c.2121T>G (p.Gly707=)
c.2064T>G (p.Gly688=)
c.2010T>G (p.Gly670=)
c.1803T>G (p.Gly601=)
c.2217T>G (p.Gly739=)
c.2211T>G (p.Gly737=)
c.2208T>G (p.Gly736=)
c.2268T>G (p.Gly756=)
c.2259T>G (p.Gly753=)
c.2178T>G (p.Gly726=)
c.2127T>G (p.Gly709=)
 dbSNP gnomAD v4
14g.33800417G>ACA389413948NPAS3c.2110G>A (p.Gly704Ser)
c.2119G>A (p.Gly707Ser)
c.2010G>A
c.793+2836G>A
c.2014G>A (p.Gly672Ser)
c.2071G>A (p.Gly691Ser)
c.2020G>A (p.Gly674Ser)
c.2125G>A (p.Gly709Ser)
c.2032G>A (p.Gly678Ser)
c.2131G>A (p.Gly711Ser)
c.2161G>A (p.Gly721Ser)
c.2152G>A (p.Gly718Ser)
c.2122G>A (p.Gly708Ser)
c.2065G>A (p.Gly689Ser)
c.2011G>A (p.Gly671Ser)
c.1804G>A (p.Gly602Ser)
c.2218G>A (p.Gly740Ser)
c.2212G>A (p.Gly738Ser)
c.2209G>A (p.Gly737Ser)
c.2269G>A (p.Gly757Ser)
c.2260G>A (p.Gly754Ser)
c.2179G>A (p.Gly727Ser)
c.2128G>A (p.Gly710Ser)
 gnomAD v4
14g.33800417G>CCA389413950NPAS3c.2110G>C (p.Gly704Arg)
c.2119G>C (p.Gly707Arg)
c.2010G>C
c.793+2836G>C
c.2014G>C (p.Gly672Arg)
c.2071G>C (p.Gly691Arg)
c.2020G>C (p.Gly674Arg)
c.2125G>C (p.Gly709Arg)
c.2032G>C (p.Gly678Arg)
c.2131G>C (p.Gly711Arg)
c.2161G>C (p.Gly721Arg)
c.2152G>C (p.Gly718Arg)
c.2122G>C (p.Gly708Arg)
c.2065G>C (p.Gly689Arg)
c.2011G>C (p.Gly671Arg)
c.1804G>C (p.Gly602Arg)
c.2218G>C (p.Gly740Arg)
c.2212G>C (p.Gly738Arg)
c.2209G>C (p.Gly737Arg)
c.2269G>C (p.Gly757Arg)
c.2260G>C (p.Gly754Arg)
c.2179G>C (p.Gly727Arg)
c.2128G>C (p.Gly710Arg)
 gnomAD v3 gnomAD v4
14g.33800417G>TCA389413952NPAS3c.2110G>T (p.Gly704Cys)
c.2119G>T (p.Gly707Cys)
c.2010G>T
c.793+2836G>T
c.2014G>T (p.Gly672Cys)
c.2071G>T (p.Gly691Cys)
c.2020G>T (p.Gly674Cys)
c.2125G>T (p.Gly709Cys)
c.2032G>T (p.Gly678Cys)
c.2131G>T (p.Gly711Cys)
c.2161G>T (p.Gly721Cys)
c.2152G>T (p.Gly718Cys)
c.2122G>T (p.Gly708Cys)
c.2065G>T (p.Gly689Cys)
c.2011G>T (p.Gly671Cys)
c.1804G>T (p.Gly602Cys)
c.2218G>T (p.Gly740Cys)
c.2212G>T (p.Gly738Cys)
c.2209G>T (p.Gly737Cys)
c.2269G>T (p.Gly757Cys)
c.2260G>T (p.Gly754Cys)
c.2179G>T (p.Gly727Cys)
c.2128G>T (p.Gly710Cys)
14g.33800418G>ACA7150945NPAS3c.2111G>A (p.Gly704Asp)
c.2120G>A (p.Gly707Asp)
c.2011G>A
c.793+2837G>A
c.2015G>A (p.Gly672Asp)
c.2072G>A (p.Gly691Asp)
c.2021G>A (p.Gly674Asp)
c.2126G>A (p.Gly709Asp)
c.2033G>A (p.Gly678Asp)
c.2132G>A (p.Gly711Asp)
c.2162G>A (p.Gly721Asp)
c.2153G>A (p.Gly718Asp)
c.2123G>A (p.Gly708Asp)
c.2066G>A (p.Gly689Asp)
c.2012G>A (p.Gly671Asp)
c.1805G>A (p.Gly602Asp)
c.2219G>A (p.Gly740Asp)
c.2213G>A (p.Gly738Asp)
c.2210G>A (p.Gly737Asp)
c.2270G>A (p.Gly757Asp)
c.2261G>A (p.Gly754Asp)
c.2180G>A (p.Gly727Asp)
c.2129G>A (p.Gly710Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800418G>CCA389413955NPAS3c.2111G>C (p.Gly704Ala)
c.2120G>C (p.Gly707Ala)
c.2011G>C
c.793+2837G>C
c.2015G>C (p.Gly672Ala)
c.2072G>C (p.Gly691Ala)
c.2021G>C (p.Gly674Ala)
c.2126G>C (p.Gly709Ala)
c.2033G>C (p.Gly678Ala)
c.2132G>C (p.Gly711Ala)
c.2162G>C (p.Gly721Ala)
c.2153G>C (p.Gly718Ala)
c.2123G>C (p.Gly708Ala)
c.2066G>C (p.Gly689Ala)
c.2012G>C (p.Gly671Ala)
c.1805G>C (p.Gly602Ala)
c.2219G>C (p.Gly740Ala)
c.2213G>C (p.Gly738Ala)
c.2210G>C (p.Gly737Ala)
c.2270G>C (p.Gly757Ala)
c.2261G>C (p.Gly754Ala)
c.2180G>C (p.Gly727Ala)
c.2129G>C (p.Gly710Ala)
14g.33800418G=CA2128327442NPAS3c.2111G= (p.Gly704=)
c.2120G= (p.Gly707=)
c.2011G=
c.793+2837G=
c.2015G= (p.Gly672=)
c.2072G= (p.Gly691=)
c.2021G= (p.Gly674=)
c.2126G= (p.Gly709=)
c.2033G= (p.Gly678=)
c.2132G= (p.Gly711=)
c.2162G= (p.Gly721=)
c.2153G= (p.Gly718=)
c.2123G= (p.Gly708=)
c.2066G= (p.Gly689=)
c.2012G= (p.Gly671=)
c.1805G= (p.Gly602=)
c.2219G= (p.Gly740=)
c.2213G= (p.Gly738=)
c.2210G= (p.Gly737=)
c.2270G= (p.Gly757=)
c.2261G= (p.Gly754=)
c.2180G= (p.Gly727=)
c.2129G= (p.Gly710=)
14g.33800418G>TCA389413957NPAS3c.2111G>T (p.Gly704Val)
c.2120G>T (p.Gly707Val)
c.2011G>T
c.793+2837G>T
c.2015G>T (p.Gly672Val)
c.2072G>T (p.Gly691Val)
c.2021G>T (p.Gly674Val)
c.2126G>T (p.Gly709Val)
c.2033G>T (p.Gly678Val)
c.2132G>T (p.Gly711Val)
c.2162G>T (p.Gly721Val)
c.2153G>T (p.Gly718Val)
c.2123G>T (p.Gly708Val)
c.2066G>T (p.Gly689Val)
c.2012G>T (p.Gly671Val)
c.1805G>T (p.Gly602Val)
c.2219G>T (p.Gly740Val)
c.2213G>T (p.Gly738Val)
c.2210G>T (p.Gly737Val)
c.2270G>T (p.Gly757Val)
c.2261G>T (p.Gly754Val)
c.2180G>T (p.Gly727Val)
c.2129G>T (p.Gly710Val)
 gnomAD v4
14g.33800419C>ACA486093129NPAS3c.2112C>A (p.Gly704=)
c.2121C>A (p.Gly707=)
c.2012C>A
c.793+2838C>A
c.2016C>A (p.Gly672=)
c.2073C>A (p.Gly691=)
c.2022C>A (p.Gly674=)
c.2127C>A (p.Gly709=)
c.2034C>A (p.Gly678=)
c.2133C>A (p.Gly711=)
c.2163C>A (p.Gly721=)
c.2154C>A (p.Gly718=)
c.2124C>A (p.Gly708=)
c.2067C>A (p.Gly689=)
c.2013C>A (p.Gly671=)
c.1806C>A (p.Gly602=)
c.2220C>A (p.Gly740=)
c.2214C>A (p.Gly738=)
c.2211C>A (p.Gly737=)
c.2271C>A (p.Gly757=)
c.2262C>A (p.Gly754=)
c.2181C>A (p.Gly727=)
c.2130C>A (p.Gly710=)
 dbSNP gnomAD v2 gnomAD v4
14g.33800419C=CA2128327445NPAS3c.2112C= (p.Gly704=)
c.2121C= (p.Gly707=)
c.2012C=
c.793+2838C=
c.2016C= (p.Gly672=)
c.2073C= (p.Gly691=)
c.2022C= (p.Gly674=)
c.2127C= (p.Gly709=)
c.2034C= (p.Gly678=)
c.2133C= (p.Gly711=)
c.2163C= (p.Gly721=)
c.2154C= (p.Gly718=)
c.2124C= (p.Gly708=)
c.2067C= (p.Gly689=)
c.2013C= (p.Gly671=)
c.1806C= (p.Gly602=)
c.2220C= (p.Gly740=)
c.2214C= (p.Gly738=)
c.2211C= (p.Gly737=)
c.2271C= (p.Gly757=)
c.2262C= (p.Gly754=)
c.2181C= (p.Gly727=)
c.2130C= (p.Gly710=)
14g.33800419C>GCA486093130NPAS3c.2112C>G (p.Gly704=)
c.2121C>G (p.Gly707=)
c.2012C>G
c.793+2838C>G
c.2016C>G (p.Gly672=)
c.2073C>G (p.Gly691=)
c.2022C>G (p.Gly674=)
c.2127C>G (p.Gly709=)
c.2034C>G (p.Gly678=)
c.2133C>G (p.Gly711=)
c.2163C>G (p.Gly721=)
c.2154C>G (p.Gly718=)
c.2124C>G (p.Gly708=)
c.2067C>G (p.Gly689=)
c.2013C>G (p.Gly671=)
c.1806C>G (p.Gly602=)
c.2220C>G (p.Gly740=)
c.2214C>G (p.Gly738=)
c.2211C>G (p.Gly737=)
c.2271C>G (p.Gly757=)
c.2262C>G (p.Gly754=)
c.2181C>G (p.Gly727=)
c.2130C>G (p.Gly710=)
 dbSNP gnomAD v4
14g.33800419C>TCA258719138NPAS3c.2112C>T (p.Gly704=)
c.2121C>T (p.Gly707=)
c.2012C>T
c.793+2838C>T
c.2016C>T (p.Gly672=)
c.2073C>T (p.Gly691=)
c.2022C>T (p.Gly674=)
c.2127C>T (p.Gly709=)
c.2034C>T (p.Gly678=)
c.2133C>T (p.Gly711=)
c.2163C>T (p.Gly721=)
c.2154C>T (p.Gly718=)
c.2124C>T (p.Gly708=)
c.2067C>T (p.Gly689=)
c.2013C>T (p.Gly671=)
c.1806C>T (p.Gly602=)
c.2220C>T (p.Gly740=)
c.2214C>T (p.Gly738=)
c.2211C>T (p.Gly737=)
c.2271C>T (p.Gly757=)
c.2262C>T (p.Gly754=)
c.2181C>T (p.Gly727=)
c.2130C>T (p.Gly710=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800420G>ACA7150946NPAS3c.2113G>A (p.Gly705Arg)
c.2122G>A (p.Gly708Arg)
c.2013G>A
c.793+2839G>A
c.2017G>A (p.Gly673Arg)
c.2074G>A (p.Gly692Arg)
c.2023G>A (p.Gly675Arg)
c.2128G>A (p.Gly710Arg)
c.2035G>A (p.Gly679Arg)
c.2134G>A (p.Gly712Arg)
c.2164G>A (p.Gly722Arg)
c.2155G>A (p.Gly719Arg)
c.2125G>A (p.Gly709Arg)
c.2068G>A (p.Gly690Arg)
c.2014G>A (p.Gly672Arg)
c.1807G>A (p.Gly603Arg)
c.2221G>A (p.Gly741Arg)
c.2215G>A (p.Gly739Arg)
c.2212G>A (p.Gly738Arg)
c.2272G>A (p.Gly758Arg)
c.2263G>A (p.Gly755Arg)
c.2182G>A (p.Gly728Arg)
c.2131G>A (p.Gly711Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800420G>CCA389413962NPAS3c.2113G>C (p.Gly705Arg)
c.2122G>C (p.Gly708Arg)
c.2013G>C
c.793+2839G>C
c.2017G>C (p.Gly673Arg)
c.2074G>C (p.Gly692Arg)
c.2023G>C (p.Gly675Arg)
c.2128G>C (p.Gly710Arg)
c.2035G>C (p.Gly679Arg)
c.2134G>C (p.Gly712Arg)
c.2164G>C (p.Gly722Arg)
c.2155G>C (p.Gly719Arg)
c.2125G>C (p.Gly709Arg)
c.2068G>C (p.Gly690Arg)
c.2014G>C (p.Gly672Arg)
c.1807G>C (p.Gly603Arg)
c.2221G>C (p.Gly741Arg)
c.2215G>C (p.Gly739Arg)
c.2212G>C (p.Gly738Arg)
c.2272G>C (p.Gly758Arg)
c.2263G>C (p.Gly755Arg)
c.2182G>C (p.Gly728Arg)
c.2131G>C (p.Gly711Arg)
14g.33800420G=CA2128327448NPAS3c.2113G= (p.Gly705=)
c.2122G= (p.Gly708=)
c.2013G=
c.793+2839G=
c.2017G= (p.Gly673=)
c.2074G= (p.Gly692=)
c.2023G= (p.Gly675=)
c.2128G= (p.Gly710=)
c.2035G= (p.Gly679=)
c.2134G= (p.Gly712=)
c.2164G= (p.Gly722=)
c.2155G= (p.Gly719=)
c.2125G= (p.Gly709=)
c.2068G= (p.Gly690=)
c.2014G= (p.Gly672=)
c.1807G= (p.Gly603=)
c.2221G= (p.Gly741=)
c.2215G= (p.Gly739=)
c.2212G= (p.Gly738=)
c.2272G= (p.Gly758=)
c.2263G= (p.Gly755=)
c.2182G= (p.Gly728=)
c.2131G= (p.Gly711=)
14g.33800420G>TCA389413960NPAS3c.2113G>T (p.Gly705Trp)
c.2122G>T (p.Gly708Trp)
c.2013G>T
c.793+2839G>T
c.2017G>T (p.Gly673Trp)
c.2074G>T (p.Gly692Trp)
c.2023G>T (p.Gly675Trp)
c.2128G>T (p.Gly710Trp)
c.2035G>T (p.Gly679Trp)
c.2134G>T (p.Gly712Trp)
c.2164G>T (p.Gly722Trp)
c.2155G>T (p.Gly719Trp)
c.2125G>T (p.Gly709Trp)
c.2068G>T (p.Gly690Trp)
c.2014G>T (p.Gly672Trp)
c.1807G>T (p.Gly603Trp)
c.2221G>T (p.Gly741Trp)
c.2215G>T (p.Gly739Trp)
c.2212G>T (p.Gly738Trp)
c.2272G>T (p.Gly758Trp)
c.2263G>T (p.Gly755Trp)
c.2182G>T (p.Gly728Trp)
c.2131G>T (p.Gly711Trp)
14g.33800425dupCA613803864NPAS3c.2118dup (p.Leu707AlafsTer?)
c.2127dup (p.Leu710AlafsTer?)
c.2018dup
c.793+2844dup
c.2022dup (p.Leu675AlafsTer?)
c.2079dup (p.Leu694AlafsTer?)
c.2028dup (p.Leu677AlafsTer?)
c.2133dup (p.Leu712AlafsTer?)
c.2040dup (p.Leu681AlafsTer?)
c.2139dup (p.Leu714AlafsTer?)
c.2169dup (p.Leu724AlafsTer?)
c.2160dup (p.Leu721AlafsTer?)
c.2130dup (p.Leu711AlafsTer?)
c.2073dup (p.Leu692AlafsTer?)
c.2019dup (p.Leu674AlafsTer?)
c.1812dup (p.Leu605AlafsTer?)
c.2226dup (p.Leu743AlafsTer?)
c.2220dup (p.Leu741AlafsTer?)
c.2217dup (p.Leu740AlafsTer?)
c.2277dup (p.Leu760AlafsTer?)
c.2268dup (p.Leu757AlafsTer?)
c.2187dup (p.Leu730AlafsTer?)
c.2136dup (p.Leu713AlafsTer?)
 gnomAD v2 gnomAD v4
14g.33800425delCA645582790NPAS3c.2118del (p.Leu707CysfsTer?)
c.2127del (p.Leu710CysfsTer?)
c.2018del
c.793+2844del
c.2022del (p.Leu675CysfsTer?)
c.2079del (p.Leu694CysfsTer?)
c.2028del (p.Leu677CysfsTer?)
c.2133del (p.Leu712CysfsTer?)
c.2040del (p.Leu681CysfsTer?)
c.2139del (p.Leu714CysfsTer?)
c.2169del (p.Leu724CysfsTer?)
c.2160del (p.Leu721CysfsTer?)
c.2130del (p.Leu711CysfsTer?)
c.2073del (p.Leu692CysfsTer?)
c.2019del (p.Leu674CysfsTer?)
c.1812del (p.Leu605CysfsTer?)
c.2226del (p.Leu743CysfsTer?)
c.2220del (p.Leu741CysfsTer?)
c.2217del (p.Leu740CysfsTer?)
c.2277del (p.Leu760CysfsTer?)
c.2268del (p.Leu757CysfsTer?)
c.2187del (p.Leu730CysfsTer?)
c.2136del (p.Leu713CysfsTer?)
 gnomAD v4 COSMIC
14g.33800421G>ACA389413967NPAS3c.2114G>A (p.Gly705Glu)
c.2123G>A (p.Gly708Glu)
c.2014G>A
c.793+2840G>A
c.2018G>A (p.Gly673Glu)
c.2075G>A (p.Gly692Glu)
c.2024G>A (p.Gly675Glu)
c.2129G>A (p.Gly710Glu)
c.2036G>A (p.Gly679Glu)
c.2135G>A (p.Gly712Glu)
c.2165G>A (p.Gly722Glu)
c.2156G>A (p.Gly719Glu)
c.2126G>A (p.Gly709Glu)
c.2069G>A (p.Gly690Glu)
c.2015G>A (p.Gly672Glu)
c.1808G>A (p.Gly603Glu)
c.2222G>A (p.Gly741Glu)
c.2216G>A (p.Gly739Glu)
c.2213G>A (p.Gly738Glu)
c.2273G>A (p.Gly758Glu)
c.2264G>A (p.Gly755Glu)
c.2183G>A (p.Gly728Glu)
c.2132G>A (p.Gly711Glu)
 gnomAD v4
14g.33800421G>CCA7150947NPAS3c.2114G>C (p.Gly705Ala)
c.2123G>C (p.Gly708Ala)
c.2014G>C
c.793+2840G>C
c.2018G>C (p.Gly673Ala)
c.2075G>C (p.Gly692Ala)
c.2024G>C (p.Gly675Ala)
c.2129G>C (p.Gly710Ala)
c.2036G>C (p.Gly679Ala)
c.2135G>C (p.Gly712Ala)
c.2165G>C (p.Gly722Ala)
c.2156G>C (p.Gly719Ala)
c.2126G>C (p.Gly709Ala)
c.2069G>C (p.Gly690Ala)
c.2015G>C (p.Gly672Ala)
c.1808G>C (p.Gly603Ala)
c.2222G>C (p.Gly741Ala)
c.2216G>C (p.Gly739Ala)
c.2213G>C (p.Gly738Ala)
c.2273G>C (p.Gly758Ala)
c.2264G>C (p.Gly755Ala)
c.2183G>C (p.Gly728Ala)
c.2132G>C (p.Gly711Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800421G=CA2128327450NPAS3c.2114G= (p.Gly705=)
c.2123G= (p.Gly708=)
c.2014G=
c.793+2840G=
c.2018G= (p.Gly673=)
c.2075G= (p.Gly692=)
c.2024G= (p.Gly675=)
c.2129G= (p.Gly710=)
c.2036G= (p.Gly679=)
c.2135G= (p.Gly712=)
c.2165G= (p.Gly722=)
c.2156G= (p.Gly719=)
c.2126G= (p.Gly709=)
c.2069G= (p.Gly690=)
c.2015G= (p.Gly672=)
c.1808G= (p.Gly603=)
c.2222G= (p.Gly741=)
c.2216G= (p.Gly739=)
c.2213G= (p.Gly738=)
c.2273G= (p.Gly758=)
c.2264G= (p.Gly755=)
c.2183G= (p.Gly728=)
c.2132G= (p.Gly711=)
14g.33800421G>TCA389413965NPAS3c.2114G>T (p.Gly705Val)
c.2123G>T (p.Gly708Val)
c.2014G>T
c.793+2840G>T
c.2018G>T (p.Gly673Val)
c.2075G>T (p.Gly692Val)
c.2024G>T (p.Gly675Val)
c.2129G>T (p.Gly710Val)
c.2036G>T (p.Gly679Val)
c.2135G>T (p.Gly712Val)
c.2165G>T (p.Gly722Val)
c.2156G>T (p.Gly719Val)
c.2126G>T (p.Gly709Val)
c.2069G>T (p.Gly690Val)
c.2015G>T (p.Gly672Val)
c.1808G>T (p.Gly603Val)
c.2222G>T (p.Gly741Val)
c.2216G>T (p.Gly739Val)
c.2213G>T (p.Gly738Val)
c.2273G>T (p.Gly758Val)
c.2264G>T (p.Gly755Val)
c.2183G>T (p.Gly728Val)
c.2132G>T (p.Gly711Val)
14g.33800422G>ACA7150948NPAS3c.2115G>A (p.Gly705=)
c.2124G>A (p.Gly708=)
c.2015G>A
c.793+2841G>A
c.2019G>A (p.Gly673=)
c.2076G>A (p.Gly692=)
c.2025G>A (p.Gly675=)
c.2130G>A (p.Gly710=)
c.2037G>A (p.Gly679=)
c.2136G>A (p.Gly712=)
c.2166G>A (p.Gly722=)
c.2157G>A (p.Gly719=)
c.2127G>A (p.Gly709=)
c.2070G>A (p.Gly690=)
c.2016G>A (p.Gly672=)
c.1809G>A (p.Gly603=)
c.2223G>A (p.Gly741=)
c.2217G>A (p.Gly739=)
c.2214G>A (p.Gly738=)
c.2274G>A (p.Gly758=)
c.2265G>A (p.Gly755=)
c.2184G>A (p.Gly728=)
c.2133G>A (p.Gly711=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800422G>CCA486093132NPAS3c.2115G>C (p.Gly705=)
c.2124G>C (p.Gly708=)
c.2015G>C
c.793+2841G>C
c.2019G>C (p.Gly673=)
c.2076G>C (p.Gly692=)
c.2025G>C (p.Gly675=)
c.2130G>C (p.Gly710=)
c.2037G>C (p.Gly679=)
c.2136G>C (p.Gly712=)
c.2166G>C (p.Gly722=)
c.2157G>C (p.Gly719=)
c.2127G>C (p.Gly709=)
c.2070G>C (p.Gly690=)
c.2016G>C (p.Gly672=)
c.1809G>C (p.Gly603=)
c.2223G>C (p.Gly741=)
c.2217G>C (p.Gly739=)
c.2214G>C (p.Gly738=)
c.2274G>C (p.Gly758=)
c.2265G>C (p.Gly755=)
c.2184G>C (p.Gly728=)
c.2133G>C (p.Gly711=)
14g.33800422G=CA2128327453NPAS3c.2115G= (p.Gly705=)
c.2124G= (p.Gly708=)
c.2015G=
c.793+2841G=
c.2019G= (p.Gly673=)
c.2076G= (p.Gly692=)
c.2025G= (p.Gly675=)
c.2130G= (p.Gly710=)
c.2037G= (p.Gly679=)
c.2136G= (p.Gly712=)
c.2166G= (p.Gly722=)
c.2157G= (p.Gly719=)
c.2127G= (p.Gly709=)
c.2070G= (p.Gly690=)
c.2016G= (p.Gly672=)
c.1809G= (p.Gly603=)
c.2223G= (p.Gly741=)
c.2217G= (p.Gly739=)
c.2214G= (p.Gly738=)
c.2274G= (p.Gly758=)
c.2265G= (p.Gly755=)
c.2184G= (p.Gly728=)
c.2133G= (p.Gly711=)
14g.33800422G>TCA486093134NPAS3c.2115G>T (p.Gly705=)
c.2124G>T (p.Gly708=)
c.2015G>T
c.793+2841G>T
c.2019G>T (p.Gly673=)
c.2076G>T (p.Gly692=)
c.2025G>T (p.Gly675=)
c.2130G>T (p.Gly710=)
c.2037G>T (p.Gly679=)
c.2136G>T (p.Gly712=)
c.2166G>T (p.Gly722=)
c.2157G>T (p.Gly719=)
c.2127G>T (p.Gly709=)
c.2070G>T (p.Gly690=)
c.2016G>T (p.Gly672=)
c.1809G>T (p.Gly603=)
c.2223G>T (p.Gly741=)
c.2217G>T (p.Gly739=)
c.2214G>T (p.Gly738=)
c.2274G>T (p.Gly758=)
c.2265G>T (p.Gly755=)
c.2184G>T (p.Gly728=)
c.2133G>T (p.Gly711=)
 dbSNP
14g.33800423G>ACA389413970NPAS3c.2116G>A (p.Gly706Arg)
c.2125G>A (p.Gly709Arg)
c.2016G>A
c.793+2842G>A
c.2020G>A (p.Gly674Arg)
c.2077G>A (p.Gly693Arg)
c.2026G>A (p.Gly676Arg)
c.2131G>A (p.Gly711Arg)
c.2038G>A (p.Gly680Arg)
c.2137G>A (p.Gly713Arg)
c.2167G>A (p.Gly723Arg)
c.2158G>A (p.Gly720Arg)
c.2128G>A (p.Gly710Arg)
c.2071G>A (p.Gly691Arg)
c.2017G>A (p.Gly673Arg)
c.1810G>A (p.Gly604Arg)
c.2224G>A (p.Gly742Arg)
c.2218G>A (p.Gly740Arg)
c.2215G>A (p.Gly739Arg)
c.2275G>A (p.Gly759Arg)
c.2266G>A (p.Gly756Arg)
c.2185G>A (p.Gly729Arg)
c.2134G>A (p.Gly712Arg)
 gnomAD v4
14g.33800423G>CCA389413972NPAS3c.2116G>C (p.Gly706Arg)
c.2125G>C (p.Gly709Arg)
c.2016G>C
c.793+2842G>C
c.2020G>C (p.Gly674Arg)
c.2077G>C (p.Gly693Arg)
c.2026G>C (p.Gly676Arg)
c.2131G>C (p.Gly711Arg)
c.2038G>C (p.Gly680Arg)
c.2137G>C (p.Gly713Arg)
c.2167G>C (p.Gly723Arg)
c.2158G>C (p.Gly720Arg)
c.2128G>C (p.Gly710Arg)
c.2071G>C (p.Gly691Arg)
c.2017G>C (p.Gly673Arg)
c.1810G>C (p.Gly604Arg)
c.2224G>C (p.Gly742Arg)
c.2218G>C (p.Gly740Arg)
c.2215G>C (p.Gly739Arg)
c.2275G>C (p.Gly759Arg)
c.2266G>C (p.Gly756Arg)
c.2185G>C (p.Gly729Arg)
c.2134G>C (p.Gly712Arg)
14g.33800423G>TCA389413974NPAS3c.2116G>T (p.Gly706Trp)
c.2125G>T (p.Gly709Trp)
c.2016G>T
c.793+2842G>T
c.2020G>T (p.Gly674Trp)
c.2077G>T (p.Gly693Trp)
c.2026G>T (p.Gly676Trp)
c.2131G>T (p.Gly711Trp)
c.2038G>T (p.Gly680Trp)
c.2137G>T (p.Gly713Trp)
c.2167G>T (p.Gly723Trp)
c.2158G>T (p.Gly720Trp)
c.2128G>T (p.Gly710Trp)
c.2071G>T (p.Gly691Trp)
c.2017G>T (p.Gly673Trp)
c.1810G>T (p.Gly604Trp)
c.2224G>T (p.Gly742Trp)
c.2218G>T (p.Gly740Trp)
c.2215G>T (p.Gly739Trp)
c.2275G>T (p.Gly759Trp)
c.2266G>T (p.Gly756Trp)
c.2185G>T (p.Gly729Trp)
c.2134G>T (p.Gly712Trp)
 gnomAD v4
14g.33800424G>ACA7150949NPAS3c.2117G>A (p.Gly706Glu)
c.2126G>A (p.Gly709Glu)
c.2017G>A
c.793+2843G>A
c.2021G>A (p.Gly674Glu)
c.2078G>A (p.Gly693Glu)
c.2027G>A (p.Gly676Glu)
c.2132G>A (p.Gly711Glu)
c.2039G>A (p.Gly680Glu)
c.2138G>A (p.Gly713Glu)
c.2168G>A (p.Gly723Glu)
c.2159G>A (p.Gly720Glu)
c.2129G>A (p.Gly710Glu)
c.2072G>A (p.Gly691Glu)
c.2018G>A (p.Gly673Glu)
c.1811G>A (p.Gly604Glu)
c.2225G>A (p.Gly742Glu)
c.2219G>A (p.Gly740Glu)
c.2216G>A (p.Gly739Glu)
c.2276G>A (p.Gly759Glu)
c.2267G>A (p.Gly756Glu)
c.2186G>A (p.Gly729Glu)
c.2135G>A (p.Gly712Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800424G>CCA389413976NPAS3c.2117G>C (p.Gly706Ala)
c.2126G>C (p.Gly709Ala)
c.2017G>C
c.793+2843G>C
c.2021G>C (p.Gly674Ala)
c.2078G>C (p.Gly693Ala)
c.2027G>C (p.Gly676Ala)
c.2132G>C (p.Gly711Ala)
c.2039G>C (p.Gly680Ala)
c.2138G>C (p.Gly713Ala)
c.2168G>C (p.Gly723Ala)
c.2159G>C (p.Gly720Ala)
c.2129G>C (p.Gly710Ala)
c.2072G>C (p.Gly691Ala)
c.2018G>C (p.Gly673Ala)
c.1811G>C (p.Gly604Ala)
c.2225G>C (p.Gly742Ala)
c.2219G>C (p.Gly740Ala)
c.2216G>C (p.Gly739Ala)
c.2276G>C (p.Gly759Ala)
c.2267G>C (p.Gly756Ala)
c.2186G>C (p.Gly729Ala)
c.2135G>C (p.Gly712Ala)
 dbSNP
14g.33800424G=CA2128327463NPAS3c.2117G= (p.Gly706=)
c.2126G= (p.Gly709=)
c.2017G=
c.793+2843G=
c.2021G= (p.Gly674=)
c.2078G= (p.Gly693=)
c.2027G= (p.Gly676=)
c.2132G= (p.Gly711=)
c.2039G= (p.Gly680=)
c.2138G= (p.Gly713=)
c.2168G= (p.Gly723=)
c.2159G= (p.Gly720=)
c.2129G= (p.Gly710=)
c.2072G= (p.Gly691=)
c.2018G= (p.Gly673=)
c.1811G= (p.Gly604=)
c.2225G= (p.Gly742=)
c.2219G= (p.Gly740=)
c.2216G= (p.Gly739=)
c.2276G= (p.Gly759=)
c.2267G= (p.Gly756=)
c.2186G= (p.Gly729=)
c.2135G= (p.Gly712=)
14g.33800424G>TCA389413978NPAS3c.2117G>T (p.Gly706Val)
c.2126G>T (p.Gly709Val)
c.2017G>T
c.793+2843G>T
c.2021G>T (p.Gly674Val)
c.2078G>T (p.Gly693Val)
c.2027G>T (p.Gly676Val)
c.2132G>T (p.Gly711Val)
c.2039G>T (p.Gly680Val)
c.2138G>T (p.Gly713Val)
c.2168G>T (p.Gly723Val)
c.2159G>T (p.Gly720Val)
c.2129G>T (p.Gly710Val)
c.2072G>T (p.Gly691Val)
c.2018G>T (p.Gly673Val)
c.1811G>T (p.Gly604Val)
c.2225G>T (p.Gly742Val)
c.2219G>T (p.Gly740Val)
c.2216G>T (p.Gly739Val)
c.2276G>T (p.Gly759Val)
c.2267G>T (p.Gly756Val)
c.2186G>T (p.Gly729Val)
c.2135G>T (p.Gly712Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800425G>ACA486093138NPAS3c.2118G>A (p.Gly706=)
c.2127G>A (p.Gly709=)
c.2018G>A
c.793+2844G>A
c.2022G>A (p.Gly674=)
c.2079G>A (p.Gly693=)
c.2028G>A (p.Gly676=)
c.2133G>A (p.Gly711=)
c.2040G>A (p.Gly680=)
c.2139G>A (p.Gly713=)
c.2169G>A (p.Gly723=)
c.2160G>A (p.Gly720=)
c.2130G>A (p.Gly710=)
c.2073G>A (p.Gly691=)
c.2019G>A (p.Gly673=)
c.1812G>A (p.Gly604=)
c.2226G>A (p.Gly742=)
c.2220G>A (p.Gly740=)
c.2217G>A (p.Gly739=)
c.2277G>A (p.Gly759=)
c.2268G>A (p.Gly756=)
c.2187G>A (p.Gly729=)
c.2136G>A (p.Gly712=)
 dbSNP gnomAD v4
14g.33800425G>CCA486093139NPAS3c.2118G>C (p.Gly706=)
c.2127G>C (p.Gly709=)
c.2018G>C
c.793+2844G>C
c.2022G>C (p.Gly674=)
c.2079G>C (p.Gly693=)
c.2028G>C (p.Gly676=)
c.2133G>C (p.Gly711=)
c.2040G>C (p.Gly680=)
c.2139G>C (p.Gly713=)
c.2169G>C (p.Gly723=)
c.2160G>C (p.Gly720=)
c.2130G>C (p.Gly710=)
c.2073G>C (p.Gly691=)
c.2019G>C (p.Gly673=)
c.1812G>C (p.Gly604=)
c.2226G>C (p.Gly742=)
c.2220G>C (p.Gly740=)
c.2217G>C (p.Gly739=)
c.2277G>C (p.Gly759=)
c.2268G>C (p.Gly756=)
c.2187G>C (p.Gly729=)
c.2136G>C (p.Gly712=)
 gnomAD v4
14g.33800425G=CA2128327466NPAS3c.2118G= (p.Gly706=)
c.2127G= (p.Gly709=)
c.2018G=
c.793+2844G=
c.2022G= (p.Gly674=)
c.2079G= (p.Gly693=)
c.2028G= (p.Gly676=)
c.2133G= (p.Gly711=)
c.2040G= (p.Gly680=)
c.2139G= (p.Gly713=)
c.2169G= (p.Gly723=)
c.2160G= (p.Gly720=)
c.2130G= (p.Gly710=)
c.2073G= (p.Gly691=)
c.2019G= (p.Gly673=)
c.1812G= (p.Gly604=)
c.2226G= (p.Gly742=)
c.2220G= (p.Gly740=)
c.2217G= (p.Gly739=)
c.2277G= (p.Gly759=)
c.2268G= (p.Gly756=)
c.2187G= (p.Gly729=)
c.2136G= (p.Gly712=)
14g.33800425G>TCA486093140NPAS3c.2118G>T (p.Gly706=)
c.2127G>T (p.Gly709=)
c.2018G>T
c.793+2844G>T
c.2022G>T (p.Gly674=)
c.2079G>T (p.Gly693=)
c.2028G>T (p.Gly676=)
c.2133G>T (p.Gly711=)
c.2040G>T (p.Gly680=)
c.2139G>T (p.Gly713=)
c.2169G>T (p.Gly723=)
c.2160G>T (p.Gly720=)
c.2130G>T (p.Gly710=)
c.2073G>T (p.Gly691=)
c.2019G>T (p.Gly673=)
c.1812G>T (p.Gly604=)
c.2226G>T (p.Gly742=)
c.2220G>T (p.Gly740=)
c.2217G>T (p.Gly739=)
c.2277G>T (p.Gly759=)
c.2268G>T (p.Gly756=)
c.2187G>T (p.Gly729=)
c.2136G>T (p.Gly712=)
 gnomAD v4
14g.33800426C>ACA389413981NPAS3c.2119C>A (p.Leu707Met)
c.2128C>A (p.Leu710Met)
c.2019C>A
c.793+2845C>A
c.2023C>A (p.Leu675Met)
c.2080C>A (p.Leu694Met)
c.2029C>A (p.Leu677Met)
c.2134C>A (p.Leu712Met)
c.2041C>A (p.Leu681Met)
c.2140C>A (p.Leu714Met)
c.2170C>A (p.Leu724Met)
c.2161C>A (p.Leu721Met)
c.2131C>A (p.Leu711Met)
c.2074C>A (p.Leu692Met)
c.2020C>A (p.Leu674Met)
c.1813C>A (p.Leu605Met)
c.2227C>A (p.Leu743Met)
c.2221C>A (p.Leu741Met)
c.2218C>A (p.Leu740Met)
c.2278C>A (p.Leu760Met)
c.2269C>A (p.Leu757Met)
c.2188C>A (p.Leu730Met)
c.2137C>A (p.Leu713Met)
 gnomAD v4
14g.33800426C=CA2128327469NPAS3c.2119C= (p.Leu707=)
c.2128C= (p.Leu710=)
c.2019C=
c.793+2845C=
c.2023C= (p.Leu675=)
c.2080C= (p.Leu694=)
c.2029C= (p.Leu677=)
c.2134C= (p.Leu712=)
c.2041C= (p.Leu681=)
c.2140C= (p.Leu714=)
c.2170C= (p.Leu724=)
c.2161C= (p.Leu721=)
c.2131C= (p.Leu711=)
c.2074C= (p.Leu692=)
c.2020C= (p.Leu674=)
c.1813C= (p.Leu605=)
c.2227C= (p.Leu743=)
c.2221C= (p.Leu741=)
c.2218C= (p.Leu740=)
c.2278C= (p.Leu760=)
c.2269C= (p.Leu757=)
c.2188C= (p.Leu730=)
c.2137C= (p.Leu713=)
14g.33800426C>GCA389413982NPAS3c.2119C>G (p.Leu707Val)
c.2128C>G (p.Leu710Val)
c.2019C>G
c.793+2845C>G
c.2023C>G (p.Leu675Val)
c.2080C>G (p.Leu694Val)
c.2029C>G (p.Leu677Val)
c.2134C>G (p.Leu712Val)
c.2041C>G (p.Leu681Val)
c.2140C>G (p.Leu714Val)
c.2170C>G (p.Leu724Val)
c.2161C>G (p.Leu721Val)
c.2131C>G (p.Leu711Val)
c.2074C>G (p.Leu692Val)
c.2020C>G (p.Leu674Val)
c.1813C>G (p.Leu605Val)
c.2227C>G (p.Leu743Val)
c.2221C>G (p.Leu741Val)
c.2218C>G (p.Leu740Val)
c.2278C>G (p.Leu760Val)
c.2269C>G (p.Leu757Val)
c.2188C>G (p.Leu730Val)
c.2137C>G (p.Leu713Val)
14g.33800426C>TCA7150950NPAS3c.2119C>T (p.Leu707=)
c.2128C>T (p.Leu710=)
c.2019C>T
c.793+2845C>T
c.2023C>T (p.Leu675=)
c.2080C>T (p.Leu694=)
c.2029C>T (p.Leu677=)
c.2134C>T (p.Leu712=)
c.2041C>T (p.Leu681=)
c.2140C>T (p.Leu714=)
c.2170C>T (p.Leu724=)
c.2161C>T (p.Leu721=)
c.2131C>T (p.Leu711=)
c.2074C>T (p.Leu692=)
c.2020C>T (p.Leu674=)
c.1813C>T (p.Leu605=)
c.2227C>T (p.Leu743=)
c.2221C>T (p.Leu741=)
c.2218C>T (p.Leu740=)
c.2278C>T (p.Leu760=)
c.2269C>T (p.Leu757=)
c.2188C>T (p.Leu730=)
c.2137C>T (p.Leu713=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800427T>ACA389413989NPAS3c.2120T>A (p.Leu707Gln)
c.2129T>A (p.Leu710Gln)
c.2020T>A
c.793+2846T>A
c.2024T>A (p.Leu675Gln)
c.2081T>A (p.Leu694Gln)
c.2030T>A (p.Leu677Gln)
c.2135T>A (p.Leu712Gln)
c.2042T>A (p.Leu681Gln)
c.2141T>A (p.Leu714Gln)
c.2171T>A (p.Leu724Gln)
c.2162T>A (p.Leu721Gln)
c.2132T>A (p.Leu711Gln)
c.2075T>A (p.Leu692Gln)
c.2021T>A (p.Leu674Gln)
c.1814T>A (p.Leu605Gln)
c.2228T>A (p.Leu743Gln)
c.2222T>A (p.Leu741Gln)
c.2219T>A (p.Leu740Gln)
c.2279T>A (p.Leu760Gln)
c.2270T>A (p.Leu757Gln)
c.2189T>A (p.Leu730Gln)
c.2138T>A (p.Leu713Gln)
14g.33800427T>CCA389413985NPAS3c.2120T>C (p.Leu707Pro)
c.2129T>C (p.Leu710Pro)
c.2020T>C
c.793+2846T>C
c.2024T>C (p.Leu675Pro)
c.2081T>C (p.Leu694Pro)
c.2030T>C (p.Leu677Pro)
c.2135T>C (p.Leu712Pro)
c.2042T>C (p.Leu681Pro)
c.2141T>C (p.Leu714Pro)
c.2171T>C (p.Leu724Pro)
c.2162T>C (p.Leu721Pro)
c.2132T>C (p.Leu711Pro)
c.2075T>C (p.Leu692Pro)
c.2021T>C (p.Leu674Pro)
c.1814T>C (p.Leu605Pro)
c.2228T>C (p.Leu743Pro)
c.2222T>C (p.Leu741Pro)
c.2219T>C (p.Leu740Pro)
c.2279T>C (p.Leu760Pro)
c.2270T>C (p.Leu757Pro)
c.2189T>C (p.Leu730Pro)
c.2138T>C (p.Leu713Pro)
14g.33800427T>GCA389413987NPAS3c.2120T>G (p.Leu707Arg)
c.2129T>G (p.Leu710Arg)
c.2020T>G
c.793+2846T>G
c.2024T>G (p.Leu675Arg)
c.2081T>G (p.Leu694Arg)
c.2030T>G (p.Leu677Arg)
c.2135T>G (p.Leu712Arg)
c.2042T>G (p.Leu681Arg)
c.2141T>G (p.Leu714Arg)
c.2171T>G (p.Leu724Arg)
c.2162T>G (p.Leu721Arg)
c.2132T>G (p.Leu711Arg)
c.2075T>G (p.Leu692Arg)
c.2021T>G (p.Leu674Arg)
c.1814T>G (p.Leu605Arg)
c.2228T>G (p.Leu743Arg)
c.2222T>G (p.Leu741Arg)
c.2219T>G (p.Leu740Arg)
c.2279T>G (p.Leu760Arg)
c.2270T>G (p.Leu757Arg)
c.2189T>G (p.Leu730Arg)
c.2138T>G (p.Leu713Arg)
14g.33800428G>ACA486093142NPAS3c.2121G>A (p.Leu707=)
c.2130G>A (p.Leu710=)
c.2021G>A
c.793+2847G>A
c.2025G>A (p.Leu675=)
c.2082G>A (p.Leu694=)
c.2031G>A (p.Leu677=)
c.2136G>A (p.Leu712=)
c.2043G>A (p.Leu681=)
c.2142G>A (p.Leu714=)
c.2172G>A (p.Leu724=)
c.2163G>A (p.Leu721=)
c.2133G>A (p.Leu711=)
c.2076G>A (p.Leu692=)
c.2022G>A (p.Leu674=)
c.1815G>A (p.Leu605=)
c.2229G>A (p.Leu743=)
c.2223G>A (p.Leu741=)
c.2220G>A (p.Leu740=)
c.2280G>A (p.Leu760=)
c.2271G>A (p.Leu757=)
c.2190G>A (p.Leu730=)
c.2139G>A (p.Leu713=)
 dbSNP gnomAD v2 gnomAD v4
14g.33800428G>CCA486093143NPAS3c.2121G>C (p.Leu707=)
c.2130G>C (p.Leu710=)
c.2021G>C
c.793+2847G>C
c.2025G>C (p.Leu675=)
c.2082G>C (p.Leu694=)
c.2031G>C (p.Leu677=)
c.2136G>C (p.Leu712=)
c.2043G>C (p.Leu681=)
c.2142G>C (p.Leu714=)
c.2172G>C (p.Leu724=)
c.2163G>C (p.Leu721=)
c.2133G>C (p.Leu711=)
c.2076G>C (p.Leu692=)
c.2022G>C (p.Leu674=)
c.1815G>C (p.Leu605=)
c.2229G>C (p.Leu743=)
c.2223G>C (p.Leu741=)
c.2220G>C (p.Leu740=)
c.2280G>C (p.Leu760=)
c.2271G>C (p.Leu757=)
c.2190G>C (p.Leu730=)
c.2139G>C (p.Leu713=)
 gnomAD v4
14g.33800428G=CA2128327471NPAS3c.2121G= (p.Leu707=)
c.2130G= (p.Leu710=)
c.2021G=
c.793+2847G=
c.2025G= (p.Leu675=)
c.2082G= (p.Leu694=)
c.2031G= (p.Leu677=)
c.2136G= (p.Leu712=)
c.2043G= (p.Leu681=)
c.2142G= (p.Leu714=)
c.2172G= (p.Leu724=)
c.2163G= (p.Leu721=)
c.2133G= (p.Leu711=)
c.2076G= (p.Leu692=)
c.2022G= (p.Leu674=)
c.1815G= (p.Leu605=)
c.2229G= (p.Leu743=)
c.2223G= (p.Leu741=)
c.2220G= (p.Leu740=)
c.2280G= (p.Leu760=)
c.2271G= (p.Leu757=)
c.2190G= (p.Leu730=)
c.2139G= (p.Leu713=)
14g.33800428G>TCA486093144NPAS3c.2121G>T (p.Leu707=)
c.2130G>T (p.Leu710=)
c.2021G>T
c.793+2847G>T
c.2025G>T (p.Leu675=)
c.2082G>T (p.Leu694=)
c.2031G>T (p.Leu677=)
c.2136G>T (p.Leu712=)
c.2043G>T (p.Leu681=)
c.2142G>T (p.Leu714=)
c.2172G>T (p.Leu724=)
c.2163G>T (p.Leu721=)
c.2133G>T (p.Leu711=)
c.2076G>T (p.Leu692=)
c.2022G>T (p.Leu674=)
c.1815G>T (p.Leu605=)
c.2229G>T (p.Leu743=)
c.2223G>T (p.Leu741=)
c.2220G>T (p.Leu740=)
c.2280G>T (p.Leu760=)
c.2271G>T (p.Leu757=)
c.2190G>T (p.Leu730=)
c.2139G>T (p.Leu713=)
14g.33800429C>ACA389413992NPAS3c.2122C>A (p.His708Asn)
c.2131C>A (p.His711Asn)
c.2022C>A
c.793+2848C>A
c.2026C>A (p.His676Asn)
c.2083C>A (p.His695Asn)
c.2032C>A (p.His678Asn)
c.2137C>A (p.His713Asn)
c.2044C>A (p.His682Asn)
c.2143C>A (p.His715Asn)
c.2173C>A (p.His725Asn)
c.2164C>A (p.His722Asn)
c.2134C>A (p.His712Asn)
c.2077C>A (p.His693Asn)
c.2023C>A (p.His675Asn)
c.1816C>A (p.His606Asn)
c.2230C>A (p.His744Asn)
c.2224C>A (p.His742Asn)
c.2221C>A (p.His741Asn)
c.2281C>A (p.His761Asn)
c.2272C>A (p.His758Asn)
c.2191C>A (p.His731Asn)
c.2140C>A (p.His714Asn)
 gnomAD v4
14g.33800429C=CA2128327474NPAS3c.2122C= (p.His708=)
c.2131C= (p.His711=)
c.2022C=
c.793+2848C=
c.2026C= (p.His676=)
c.2083C= (p.His695=)
c.2032C= (p.His678=)
c.2137C= (p.His713=)
c.2044C= (p.His682=)
c.2143C= (p.His715=)
c.2173C= (p.His725=)
c.2164C= (p.His722=)
c.2134C= (p.His712=)
c.2077C= (p.His693=)
c.2023C= (p.His675=)
c.1816C= (p.His606=)
c.2230C= (p.His744=)
c.2224C= (p.His742=)
c.2221C= (p.His741=)
c.2281C= (p.His761=)
c.2272C= (p.His758=)
c.2191C= (p.His731=)
c.2140C= (p.His714=)
14g.33800429C>GCA389413993NPAS3c.2122C>G (p.His708Asp)
c.2131C>G (p.His711Asp)
c.2022C>G
c.793+2848C>G
c.2026C>G (p.His676Asp)
c.2083C>G (p.His695Asp)
c.2032C>G (p.His678Asp)
c.2137C>G (p.His713Asp)
c.2044C>G (p.His682Asp)
c.2143C>G (p.His715Asp)
c.2173C>G (p.His725Asp)
c.2164C>G (p.His722Asp)
c.2134C>G (p.His712Asp)
c.2077C>G (p.His693Asp)
c.2023C>G (p.His675Asp)
c.1816C>G (p.His606Asp)
c.2230C>G (p.His744Asp)
c.2224C>G (p.His742Asp)
c.2221C>G (p.His741Asp)
c.2281C>G (p.His761Asp)
c.2272C>G (p.His758Asp)
c.2191C>G (p.His731Asp)
c.2140C>G (p.His714Asp)
14g.33800429C>TCA7150951NPAS3c.2122C>T (p.His708Tyr)
c.2131C>T (p.His711Tyr)
c.2022C>T
c.793+2848C>T
c.2026C>T (p.His676Tyr)
c.2083C>T (p.His695Tyr)
c.2032C>T (p.His678Tyr)
c.2137C>T (p.His713Tyr)
c.2044C>T (p.His682Tyr)
c.2143C>T (p.His715Tyr)
c.2173C>T (p.His725Tyr)
c.2164C>T (p.His722Tyr)
c.2134C>T (p.His712Tyr)
c.2077C>T (p.His693Tyr)
c.2023C>T (p.His675Tyr)
c.1816C>T (p.His606Tyr)
c.2230C>T (p.His744Tyr)
c.2224C>T (p.His742Tyr)
c.2221C>T (p.His741Tyr)
c.2281C>T (p.His761Tyr)
c.2272C>T (p.His758Tyr)
c.2191C>T (p.His731Tyr)
c.2140C>T (p.His714Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800430A=CA2128327476NPAS3c.2123A= (p.His708=)
c.2132A= (p.His711=)
c.2023A=
c.793+2849A=
c.2027A= (p.His676=)
c.2084A= (p.His695=)
c.2033A= (p.His678=)
c.2138A= (p.His713=)
c.2045A= (p.His682=)
c.2144A= (p.His715=)
c.2174A= (p.His725=)
c.2165A= (p.His722=)
c.2135A= (p.His712=)
c.2078A= (p.His693=)
c.2024A= (p.His675=)
c.1817A= (p.His606=)
c.2231A= (p.His744=)
c.2225A= (p.His742=)
c.2222A= (p.His741=)
c.2282A= (p.His761=)
c.2273A= (p.His758=)
c.2192A= (p.His731=)
c.2141A= (p.His714=)
14g.33800430A>CCA389413997NPAS3c.2123A>C (p.His708Pro)
c.2132A>C (p.His711Pro)
c.2023A>C
c.793+2849A>C
c.2027A>C (p.His676Pro)
c.2084A>C (p.His695Pro)
c.2033A>C (p.His678Pro)
c.2138A>C (p.His713Pro)
c.2045A>C (p.His682Pro)
c.2144A>C (p.His715Pro)
c.2174A>C (p.His725Pro)
c.2165A>C (p.His722Pro)
c.2135A>C (p.His712Pro)
c.2078A>C (p.His693Pro)
c.2024A>C (p.His675Pro)
c.1817A>C (p.His606Pro)
c.2231A>C (p.His744Pro)
c.2225A>C (p.His742Pro)
c.2222A>C (p.His741Pro)
c.2282A>C (p.His761Pro)
c.2273A>C (p.His758Pro)
c.2192A>C (p.His731Pro)
c.2141A>C (p.His714Pro)
 dbSNP gnomAD v4
14g.33800430A>GCA389413998NPAS3c.2123A>G (p.His708Arg)
c.2132A>G (p.His711Arg)
c.2023A>G
c.793+2849A>G
c.2027A>G (p.His676Arg)
c.2084A>G (p.His695Arg)
c.2033A>G (p.His678Arg)
c.2138A>G (p.His713Arg)
c.2045A>G (p.His682Arg)
c.2144A>G (p.His715Arg)
c.2174A>G (p.His725Arg)
c.2165A>G (p.His722Arg)
c.2135A>G (p.His712Arg)
c.2078A>G (p.His693Arg)
c.2024A>G (p.His675Arg)
c.1817A>G (p.His606Arg)
c.2231A>G (p.His744Arg)
c.2225A>G (p.His742Arg)
c.2222A>G (p.His741Arg)
c.2282A>G (p.His761Arg)
c.2273A>G (p.His758Arg)
c.2192A>G (p.His731Arg)
c.2141A>G (p.His714Arg)
14g.33800430A>TCA389414000NPAS3c.2123A>T (p.His708Leu)
c.2132A>T (p.His711Leu)
c.2023A>T
c.793+2849A>T
c.2027A>T (p.His676Leu)
c.2084A>T (p.His695Leu)
c.2033A>T (p.His678Leu)
c.2138A>T (p.His713Leu)
c.2045A>T (p.His682Leu)
c.2144A>T (p.His715Leu)
c.2174A>T (p.His725Leu)
c.2165A>T (p.His722Leu)
c.2135A>T (p.His712Leu)
c.2078A>T (p.His693Leu)
c.2024A>T (p.His675Leu)
c.1817A>T (p.His606Leu)
c.2231A>T (p.His744Leu)
c.2225A>T (p.His742Leu)
c.2222A>T (p.His741Leu)
c.2282A>T (p.His761Leu)
c.2273A>T (p.His758Leu)
c.2192A>T (p.His731Leu)
c.2141A>T (p.His714Leu)
14g.33800431C>ACA389414003NPAS3c.2124C>A (p.His708Gln)
c.2133C>A (p.His711Gln)
c.2024C>A
c.793+2850C>A
c.2028C>A (p.His676Gln)
c.2085C>A (p.His695Gln)
c.2034C>A (p.His678Gln)
c.2139C>A (p.His713Gln)
c.2046C>A (p.His682Gln)
c.2145C>A (p.His715Gln)
c.2175C>A (p.His725Gln)
c.2166C>A (p.His722Gln)
c.2136C>A (p.His712Gln)
c.2079C>A (p.His693Gln)
c.2025C>A (p.His675Gln)
c.1818C>A (p.His606Gln)
c.2232C>A (p.His744Gln)
c.2226C>A (p.His742Gln)
c.2223C>A (p.His741Gln)
c.2283C>A (p.His761Gln)
c.2274C>A (p.His758Gln)
c.2193C>A (p.His731Gln)
c.2142C>A (p.His714Gln)
14g.33800431C=CA2128327478NPAS3c.2124C= (p.His708=)
c.2133C= (p.His711=)
c.2024C=
c.793+2850C=
c.2028C= (p.His676=)
c.2085C= (p.His695=)
c.2034C= (p.His678=)
c.2139C= (p.His713=)
c.2046C= (p.His682=)
c.2145C= (p.His715=)
c.2175C= (p.His725=)
c.2166C= (p.His722=)
c.2136C= (p.His712=)
c.2079C= (p.His693=)
c.2025C= (p.His675=)
c.1818C= (p.His606=)
c.2232C= (p.His744=)
c.2226C= (p.His742=)
c.2223C= (p.His741=)
c.2283C= (p.His761=)
c.2274C= (p.His758=)
c.2193C= (p.His731=)
c.2142C= (p.His714=)
14g.33800431C>GCA389414004NPAS3c.2124C>G (p.His708Gln)
c.2133C>G (p.His711Gln)
c.2024C>G
c.793+2850C>G
c.2028C>G (p.His676Gln)
c.2085C>G (p.His695Gln)
c.2034C>G (p.His678Gln)
c.2139C>G (p.His713Gln)
c.2046C>G (p.His682Gln)
c.2145C>G (p.His715Gln)
c.2175C>G (p.His725Gln)
c.2166C>G (p.His722Gln)
c.2136C>G (p.His712Gln)
c.2079C>G (p.His693Gln)
c.2025C>G (p.His675Gln)
c.1818C>G (p.His606Gln)
c.2232C>G (p.His744Gln)
c.2226C>G (p.His742Gln)
c.2223C>G (p.His741Gln)
c.2283C>G (p.His761Gln)
c.2274C>G (p.His758Gln)
c.2193C>G (p.His731Gln)
c.2142C>G (p.His714Gln)
 gnomAD v4
14g.33800431C>TCA7150952NPAS3c.2124C>T (p.His708=)
c.2133C>T (p.His711=)
c.2024C>T
c.793+2850C>T
c.2028C>T (p.His676=)
c.2085C>T (p.His695=)
c.2034C>T (p.His678=)
c.2139C>T (p.His713=)
c.2046C>T (p.His682=)
c.2145C>T (p.His715=)
c.2175C>T (p.His725=)
c.2166C>T (p.His722=)
c.2136C>T (p.His712=)
c.2079C>T (p.His693=)
c.2025C>T (p.His675=)
c.1818C>T (p.His606=)
c.2232C>T (p.His744=)
c.2226C>T (p.His742=)
c.2223C>T (p.His741=)
c.2283C>T (p.His761=)
c.2274C>T (p.His758=)
c.2193C>T (p.His731=)
c.2142C>T (p.His714=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800432G>ACA389414007NPAS3c.2125G>A (p.Val709Met)
c.2134G>A (p.Val712Met)
c.2025G>A
c.793+2851G>A
c.2029G>A (p.Val677Met)
c.2086G>A (p.Val696Met)
c.2035G>A (p.Val679Met)
c.2140G>A (p.Val714Met)
c.2047G>A (p.Val683Met)
c.2146G>A (p.Val716Met)
c.2176G>A (p.Val726Met)
c.2167G>A (p.Val723Met)
c.2137G>A (p.Val713Met)
c.2080G>A (p.Val694Met)
c.2026G>A (p.Val676Met)
c.1819G>A (p.Val607Met)
c.2233G>A (p.Val745Met)
c.2227G>A (p.Val743Met)
c.2224G>A (p.Val742Met)
c.2284G>A (p.Val762Met)
c.2275G>A (p.Val759Met)
c.2194G>A (p.Val732Met)
c.2143G>A (p.Val715Met)
 dbSNP gnomAD v2 gnomAD v4
14g.33800432G>CCA389414009NPAS3c.2125G>C (p.Val709Leu)
c.2134G>C (p.Val712Leu)
c.2025G>C
c.793+2851G>C
c.2029G>C (p.Val677Leu)
c.2086G>C (p.Val696Leu)
c.2035G>C (p.Val679Leu)
c.2140G>C (p.Val714Leu)
c.2047G>C (p.Val683Leu)
c.2146G>C (p.Val716Leu)
c.2176G>C (p.Val726Leu)
c.2167G>C (p.Val723Leu)
c.2137G>C (p.Val713Leu)
c.2080G>C (p.Val694Leu)
c.2026G>C (p.Val676Leu)
c.1819G>C (p.Val607Leu)
c.2233G>C (p.Val745Leu)
c.2227G>C (p.Val743Leu)
c.2224G>C (p.Val742Leu)
c.2284G>C (p.Val762Leu)
c.2275G>C (p.Val759Leu)
c.2194G>C (p.Val732Leu)
c.2143G>C (p.Val715Leu)
14g.33800432G=CA2128327483NPAS3c.2125G= (p.Val709=)
c.2134G= (p.Val712=)
c.2025G=
c.793+2851G=
c.2029G= (p.Val677=)
c.2086G= (p.Val696=)
c.2035G= (p.Val679=)
c.2140G= (p.Val714=)
c.2047G= (p.Val683=)
c.2146G= (p.Val716=)
c.2176G= (p.Val726=)
c.2167G= (p.Val723=)
c.2137G= (p.Val713=)
c.2080G= (p.Val694=)
c.2026G= (p.Val676=)
c.1819G= (p.Val607=)
c.2233G= (p.Val745=)
c.2227G= (p.Val743=)
c.2224G= (p.Val742=)
c.2284G= (p.Val762=)
c.2275G= (p.Val759=)
c.2194G= (p.Val732=)
c.2143G= (p.Val715=)
14g.33800432G>TCA7150953NPAS3c.2125G>T (p.Val709Leu)
c.2134G>T (p.Val712Leu)
c.2025G>T
c.793+2851G>T
c.2029G>T (p.Val677Leu)
c.2086G>T (p.Val696Leu)
c.2035G>T (p.Val679Leu)
c.2140G>T (p.Val714Leu)
c.2047G>T (p.Val683Leu)
c.2146G>T (p.Val716Leu)
c.2176G>T (p.Val726Leu)
c.2167G>T (p.Val723Leu)
c.2137G>T (p.Val713Leu)
c.2080G>T (p.Val694Leu)
c.2026G>T (p.Val676Leu)
c.1819G>T (p.Val607Leu)
c.2233G>T (p.Val745Leu)
c.2227G>T (p.Val743Leu)
c.2224G>T (p.Val742Leu)
c.2284G>T (p.Val762Leu)
c.2275G>T (p.Val759Leu)
c.2194G>T (p.Val732Leu)
c.2143G>T (p.Val715Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800433T>ACA389414014NPAS3c.2126T>A (p.Val709Glu)
c.2135T>A (p.Val712Glu)
c.2026T>A
c.793+2852T>A
c.2030T>A (p.Val677Glu)
c.2087T>A (p.Val696Glu)
c.2036T>A (p.Val679Glu)
c.2141T>A (p.Val714Glu)
c.2048T>A (p.Val683Glu)
c.2147T>A (p.Val716Glu)
c.2177T>A (p.Val726Glu)
c.2168T>A (p.Val723Glu)
c.2138T>A (p.Val713Glu)
c.2081T>A (p.Val694Glu)
c.2027T>A (p.Val676Glu)
c.1820T>A (p.Val607Glu)
c.2234T>A (p.Val745Glu)
c.2228T>A (p.Val743Glu)
c.2225T>A (p.Val742Glu)
c.2285T>A (p.Val762Glu)
c.2276T>A (p.Val759Glu)
c.2195T>A (p.Val732Glu)
c.2144T>A (p.Val715Glu)
14g.33800433T>CCA389414016NPAS3c.2126T>C (p.Val709Ala)
c.2135T>C (p.Val712Ala)
c.2026T>C
c.793+2852T>C
c.2030T>C (p.Val677Ala)
c.2087T>C (p.Val696Ala)
c.2036T>C (p.Val679Ala)
c.2141T>C (p.Val714Ala)
c.2048T>C (p.Val683Ala)
c.2147T>C (p.Val716Ala)
c.2177T>C (p.Val726Ala)
c.2168T>C (p.Val723Ala)
c.2138T>C (p.Val713Ala)
c.2081T>C (p.Val694Ala)
c.2027T>C (p.Val676Ala)
c.1820T>C (p.Val607Ala)
c.2234T>C (p.Val745Ala)
c.2228T>C (p.Val743Ala)
c.2225T>C (p.Val742Ala)
c.2285T>C (p.Val762Ala)
c.2276T>C (p.Val759Ala)
c.2195T>C (p.Val732Ala)
c.2144T>C (p.Val715Ala)
14g.33800433T>GCA389414012NPAS3c.2126T>G (p.Val709Gly)
c.2135T>G (p.Val712Gly)
c.2026T>G
c.793+2852T>G
c.2030T>G (p.Val677Gly)
c.2087T>G (p.Val696Gly)
c.2036T>G (p.Val679Gly)
c.2141T>G (p.Val714Gly)
c.2048T>G (p.Val683Gly)
c.2147T>G (p.Val716Gly)
c.2177T>G (p.Val726Gly)
c.2168T>G (p.Val723Gly)
c.2138T>G (p.Val713Gly)
c.2081T>G (p.Val694Gly)
c.2027T>G (p.Val676Gly)
c.1820T>G (p.Val607Gly)
c.2234T>G (p.Val745Gly)
c.2228T>G (p.Val743Gly)
c.2225T>G (p.Val742Gly)
c.2285T>G (p.Val762Gly)
c.2276T>G (p.Val759Gly)
c.2195T>G (p.Val732Gly)
c.2144T>G (p.Val715Gly)
14g.33800434G>ACA486093153NPAS3c.2127G>A (p.Val709=)
c.2136G>A (p.Val712=)
c.2027G>A
c.793+2853G>A
c.2031G>A (p.Val677=)
c.2088G>A (p.Val696=)
c.2037G>A (p.Val679=)
c.2142G>A (p.Val714=)
c.2049G>A (p.Val683=)
c.2148G>A (p.Val716=)
c.2178G>A (p.Val726=)
c.2169G>A (p.Val723=)
c.2139G>A (p.Val713=)
c.2082G>A (p.Val694=)
c.2028G>A (p.Val676=)
c.1821G>A (p.Val607=)
c.2235G>A (p.Val745=)
c.2229G>A (p.Val743=)
c.2226G>A (p.Val742=)
c.2286G>A (p.Val762=)
c.2277G>A (p.Val759=)
c.2196G>A (p.Val732=)
c.2145G>A (p.Val715=)
 dbSNP gnomAD v3 gnomAD v4
14g.33800434G>CCA486093152NPAS3c.2127G>C (p.Val709=)
c.2136G>C (p.Val712=)
c.2027G>C
c.793+2853G>C
c.2031G>C (p.Val677=)
c.2088G>C (p.Val696=)
c.2037G>C (p.Val679=)
c.2142G>C (p.Val714=)
c.2049G>C (p.Val683=)
c.2148G>C (p.Val716=)
c.2178G>C (p.Val726=)
c.2169G>C (p.Val723=)
c.2139G>C (p.Val713=)
c.2082G>C (p.Val694=)
c.2028G>C (p.Val676=)
c.1821G>C (p.Val607=)
c.2235G>C (p.Val745=)
c.2229G>C (p.Val743=)
c.2226G>C (p.Val742=)
c.2286G>C (p.Val762=)
c.2277G>C (p.Val759=)
c.2196G>C (p.Val732=)
c.2145G>C (p.Val715=)
14g.33800434G=CA2128327485NPAS3c.2127G= (p.Val709=)
c.2136G= (p.Val712=)
c.2027G=
c.793+2853G=
c.2031G= (p.Val677=)
c.2088G= (p.Val696=)
c.2037G= (p.Val679=)
c.2142G= (p.Val714=)
c.2049G= (p.Val683=)
c.2148G= (p.Val716=)
c.2178G= (p.Val726=)
c.2169G= (p.Val723=)
c.2139G= (p.Val713=)
c.2082G= (p.Val694=)
c.2028G= (p.Val676=)
c.1821G= (p.Val607=)
c.2235G= (p.Val745=)
c.2229G= (p.Val743=)
c.2226G= (p.Val742=)
c.2286G= (p.Val762=)
c.2277G= (p.Val759=)
c.2196G= (p.Val732=)
c.2145G= (p.Val715=)
14g.33800434G>TCA486093151NPAS3c.2127G>T (p.Val709=)
c.2136G>T (p.Val712=)
c.2027G>T
c.793+2853G>T
c.2031G>T (p.Val677=)
c.2088G>T (p.Val696=)
c.2037G>T (p.Val679=)
c.2142G>T (p.Val714=)
c.2049G>T (p.Val683=)
c.2148G>T (p.Val716=)
c.2178G>T (p.Val726=)
c.2169G>T (p.Val723=)
c.2139G>T (p.Val713=)
c.2082G>T (p.Val694=)
c.2028G>T (p.Val676=)
c.1821G>T (p.Val607=)
c.2235G>T (p.Val745=)
c.2229G>T (p.Val743=)
c.2226G>T (p.Val742=)
c.2286G>T (p.Val762=)
c.2277G>T (p.Val759=)
c.2196G>T (p.Val732=)
c.2145G>T (p.Val715=)
14g.33800435G>ACA389414018NPAS3c.2128G>A (p.Ala710Thr)
c.2137G>A (p.Ala713Thr)
c.2028G>A
c.793+2854G>A
c.2032G>A (p.Ala678Thr)
c.2089G>A (p.Ala697Thr)
c.2038G>A (p.Ala680Thr)
c.2143G>A (p.Ala715Thr)
c.2050G>A (p.Ala684Thr)
c.2149G>A (p.Ala717Thr)
c.2179G>A (p.Ala727Thr)
c.2170G>A (p.Ala724Thr)
c.2140G>A (p.Ala714Thr)
c.2083G>A (p.Ala695Thr)
c.2029G>A (p.Ala677Thr)
c.1822G>A (p.Ala608Thr)
c.2236G>A (p.Ala746Thr)
c.2230G>A (p.Ala744Thr)
c.2227G>A (p.Ala743Thr)
c.2287G>A (p.Ala763Thr)
c.2278G>A (p.Ala760Thr)
c.2197G>A (p.Ala733Thr)
c.2146G>A (p.Ala716Thr)
 gnomAD v4
14g.33800435G>CCA389414020NPAS3c.2128G>C (p.Ala710Pro)
c.2137G>C (p.Ala713Pro)
c.2028G>C
c.793+2854G>C
c.2032G>C (p.Ala678Pro)
c.2089G>C (p.Ala697Pro)
c.2038G>C (p.Ala680Pro)
c.2143G>C (p.Ala715Pro)
c.2050G>C (p.Ala684Pro)
c.2149G>C (p.Ala717Pro)
c.2179G>C (p.Ala727Pro)
c.2170G>C (p.Ala724Pro)
c.2140G>C (p.Ala714Pro)
c.2083G>C (p.Ala695Pro)
c.2029G>C (p.Ala677Pro)
c.1822G>C (p.Ala608Pro)
c.2236G>C (p.Ala746Pro)
c.2230G>C (p.Ala744Pro)
c.2227G>C (p.Ala743Pro)
c.2287G>C (p.Ala763Pro)
c.2278G>C (p.Ala760Pro)
c.2197G>C (p.Ala733Pro)
c.2146G>C (p.Ala716Pro)
14g.33800435G>TCA389414022NPAS3c.2128G>T (p.Ala710Ser)
c.2137G>T (p.Ala713Ser)
c.2028G>T
c.793+2854G>T
c.2032G>T (p.Ala678Ser)
c.2089G>T (p.Ala697Ser)
c.2038G>T (p.Ala680Ser)
c.2143G>T (p.Ala715Ser)
c.2050G>T (p.Ala684Ser)
c.2149G>T (p.Ala717Ser)
c.2179G>T (p.Ala727Ser)
c.2170G>T (p.Ala724Ser)
c.2140G>T (p.Ala714Ser)
c.2083G>T (p.Ala695Ser)
c.2029G>T (p.Ala677Ser)
c.1822G>T (p.Ala608Ser)
c.2236G>T (p.Ala746Ser)
c.2230G>T (p.Ala744Ser)
c.2227G>T (p.Ala743Ser)
c.2287G>T (p.Ala763Ser)
c.2278G>T (p.Ala760Ser)
c.2197G>T (p.Ala733Ser)
c.2146G>T (p.Ala716Ser)
 gnomAD v4
14g.33800436C>ACA389414024NPAS3c.2129C>A (p.Ala710Asp)
c.2138C>A (p.Ala713Asp)
c.2029C>A
c.793+2855C>A
c.2033C>A (p.Ala678Asp)
c.2090C>A (p.Ala697Asp)
c.2039C>A (p.Ala680Asp)
c.2144C>A (p.Ala715Asp)
c.2051C>A (p.Ala684Asp)
c.2150C>A (p.Ala717Asp)
c.2180C>A (p.Ala727Asp)
c.2171C>A (p.Ala724Asp)
c.2141C>A (p.Ala714Asp)
c.2084C>A (p.Ala695Asp)
c.2030C>A (p.Ala677Asp)
c.1823C>A (p.Ala608Asp)
c.2237C>A (p.Ala746Asp)
c.2231C>A (p.Ala744Asp)
c.2228C>A (p.Ala743Asp)
c.2288C>A (p.Ala763Asp)
c.2279C>A (p.Ala760Asp)
c.2198C>A (p.Ala733Asp)
c.2147C>A (p.Ala716Asp)
 gnomAD v4
14g.33800436C=CA2128327489NPAS3c.2129C= (p.Ala710=)
c.2138C= (p.Ala713=)
c.2029C=
c.793+2855C=
c.2033C= (p.Ala678=)
c.2090C= (p.Ala697=)
c.2039C= (p.Ala680=)
c.2144C= (p.Ala715=)
c.2051C= (p.Ala684=)
c.2150C= (p.Ala717=)
c.2180C= (p.Ala727=)
c.2171C= (p.Ala724=)
c.2141C= (p.Ala714=)
c.2084C= (p.Ala695=)
c.2030C= (p.Ala677=)
c.1823C= (p.Ala608=)
c.2237C= (p.Ala746=)
c.2231C= (p.Ala744=)
c.2228C= (p.Ala743=)
c.2288C= (p.Ala763=)
c.2279C= (p.Ala760=)
c.2198C= (p.Ala733=)
c.2147C= (p.Ala716=)
14g.33800436C>GCA389414026NPAS3c.2129C>G (p.Ala710Gly)
c.2138C>G (p.Ala713Gly)
c.2029C>G
c.793+2855C>G
c.2033C>G (p.Ala678Gly)
c.2090C>G (p.Ala697Gly)
c.2039C>G (p.Ala680Gly)
c.2144C>G (p.Ala715Gly)
c.2051C>G (p.Ala684Gly)
c.2150C>G (p.Ala717Gly)
c.2180C>G (p.Ala727Gly)
c.2171C>G (p.Ala724Gly)
c.2141C>G (p.Ala714Gly)
c.2084C>G (p.Ala695Gly)
c.2030C>G (p.Ala677Gly)
c.1823C>G (p.Ala608Gly)
c.2237C>G (p.Ala746Gly)
c.2231C>G (p.Ala744Gly)
c.2228C>G (p.Ala743Gly)
c.2288C>G (p.Ala763Gly)
c.2279C>G (p.Ala760Gly)
c.2198C>G (p.Ala733Gly)
c.2147C>G (p.Ala716Gly)
14g.33800436C>TCA7150954NPAS3c.2129C>T (p.Ala710Val)
c.2138C>T (p.Ala713Val)
c.2029C>T
c.793+2855C>T
c.2033C>T (p.Ala678Val)
c.2090C>T (p.Ala697Val)
c.2039C>T (p.Ala680Val)
c.2144C>T (p.Ala715Val)
c.2051C>T (p.Ala684Val)
c.2150C>T (p.Ala717Val)
c.2180C>T (p.Ala727Val)
c.2171C>T (p.Ala724Val)
c.2141C>T (p.Ala714Val)
c.2084C>T (p.Ala695Val)
c.2030C>T (p.Ala677Val)
c.1823C>T (p.Ala608Val)
c.2237C>T (p.Ala746Val)
c.2231C>T (p.Ala744Val)
c.2228C>T (p.Ala743Val)
c.2288C>T (p.Ala763Val)
c.2279C>T (p.Ala760Val)
c.2198C>T (p.Ala733Val)
c.2147C>T (p.Ala716Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800437C>ACA486093158NPAS3c.2130C>A (p.Ala710=)
c.2139C>A (p.Ala713=)
c.2030C>A
c.793+2856C>A
c.2034C>A (p.Ala678=)
c.2091C>A (p.Ala697=)
c.2040C>A (p.Ala680=)
c.2145C>A (p.Ala715=)
c.2052C>A (p.Ala684=)
c.2151C>A (p.Ala717=)
c.2181C>A (p.Ala727=)
c.2172C>A (p.Ala724=)
c.2142C>A (p.Ala714=)
c.2085C>A (p.Ala695=)
c.2031C>A (p.Ala677=)
c.1824C>A (p.Ala608=)
c.2238C>A (p.Ala746=)
c.2232C>A (p.Ala744=)
c.2229C>A (p.Ala743=)
c.2289C>A (p.Ala763=)
c.2280C>A (p.Ala760=)
c.2199C>A (p.Ala733=)
c.2148C>A (p.Ala716=)
14g.33800437C=CA2128327493NPAS3c.2130C= (p.Ala710=)
c.2139C= (p.Ala713=)
c.2030C=
c.793+2856C=
c.2034C= (p.Ala678=)
c.2091C= (p.Ala697=)
c.2040C= (p.Ala680=)
c.2145C= (p.Ala715=)
c.2052C= (p.Ala684=)
c.2151C= (p.Ala717=)
c.2181C= (p.Ala727=)
c.2172C= (p.Ala724=)
c.2142C= (p.Ala714=)
c.2085C= (p.Ala695=)
c.2031C= (p.Ala677=)
c.1824C= (p.Ala608=)
c.2238C= (p.Ala746=)
c.2232C= (p.Ala744=)
c.2229C= (p.Ala743=)
c.2289C= (p.Ala763=)
c.2280C= (p.Ala760=)
c.2199C= (p.Ala733=)
c.2148C= (p.Ala716=)
14g.33800437C>GCA486093160NPAS3c.2130C>G (p.Ala710=)
c.2139C>G (p.Ala713=)
c.2030C>G
c.793+2856C>G
c.2034C>G (p.Ala678=)
c.2091C>G (p.Ala697=)
c.2040C>G (p.Ala680=)
c.2145C>G (p.Ala715=)
c.2052C>G (p.Ala684=)
c.2151C>G (p.Ala717=)
c.2181C>G (p.Ala727=)
c.2172C>G (p.Ala724=)
c.2142C>G (p.Ala714=)
c.2085C>G (p.Ala695=)
c.2031C>G (p.Ala677=)
c.1824C>G (p.Ala608=)
c.2238C>G (p.Ala746=)
c.2232C>G (p.Ala744=)
c.2229C>G (p.Ala743=)
c.2289C>G (p.Ala763=)
c.2280C>G (p.Ala760=)
c.2199C>G (p.Ala733=)
c.2148C>G (p.Ala716=)
14g.33800437C>TCA486093159NPAS3c.2130C>T (p.Ala710=)
c.2139C>T (p.Ala713=)
c.2030C>T
c.793+2856C>T
c.2034C>T (p.Ala678=)
c.2091C>T (p.Ala697=)
c.2040C>T (p.Ala680=)
c.2145C>T (p.Ala715=)
c.2052C>T (p.Ala684=)
c.2151C>T (p.Ala717=)
c.2181C>T (p.Ala727=)
c.2172C>T (p.Ala724=)
c.2142C>T (p.Ala714=)
c.2085C>T (p.Ala695=)
c.2031C>T (p.Ala677=)
c.1824C>T (p.Ala608=)
c.2238C>T (p.Ala746=)
c.2232C>T (p.Ala744=)
c.2229C>T (p.Ala743=)
c.2289C>T (p.Ala763=)
c.2280C>T (p.Ala760=)
c.2199C>T (p.Ala733=)
c.2148C>T (p.Ala716=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800438A=CA2128327496NPAS3c.2131A= (p.Ile711=)
c.2140A= (p.Ile714=)
c.2031A=
c.793+2857A=
c.2035A= (p.Ile679=)
c.2092A= (p.Ile698=)
c.2041A= (p.Ile681=)
c.2146A= (p.Ile716=)
c.2053A= (p.Ile685=)
c.2152A= (p.Ile718=)
c.2182A= (p.Ile728=)
c.2173A= (p.Ile725=)
c.2143A= (p.Ile715=)
c.2086A= (p.Ile696=)
c.2032A= (p.Ile678=)
c.1825A= (p.Ile609=)
c.2239A= (p.Ile747=)
c.2233A= (p.Ile745=)
c.2230A= (p.Ile744=)
c.2290A= (p.Ile764=)
c.2281A= (p.Ile761=)
c.2200A= (p.Ile734=)
c.2149A= (p.Ile717=)
14g.33800438A>CCA389414029NPAS3c.2131A>C (p.Ile711Leu)
c.2140A>C (p.Ile714Leu)
c.2031A>C
c.793+2857A>C
c.2035A>C (p.Ile679Leu)
c.2092A>C (p.Ile698Leu)
c.2041A>C (p.Ile681Leu)
c.2146A>C (p.Ile716Leu)
c.2053A>C (p.Ile685Leu)
c.2152A>C (p.Ile718Leu)
c.2182A>C (p.Ile728Leu)
c.2173A>C (p.Ile725Leu)
c.2143A>C (p.Ile715Leu)
c.2086A>C (p.Ile696Leu)
c.2032A>C (p.Ile678Leu)
c.1825A>C (p.Ile609Leu)
c.2239A>C (p.Ile747Leu)
c.2233A>C (p.Ile745Leu)
c.2230A>C (p.Ile744Leu)
c.2290A>C (p.Ile764Leu)
c.2281A>C (p.Ile761Leu)
c.2200A>C (p.Ile734Leu)
c.2149A>C (p.Ile717Leu)
14g.33800438A>GCA389414031NPAS3c.2131A>G (p.Ile711Val)
c.2140A>G (p.Ile714Val)
c.2031A>G
c.793+2857A>G
c.2035A>G (p.Ile679Val)
c.2092A>G (p.Ile698Val)
c.2041A>G (p.Ile681Val)
c.2146A>G (p.Ile716Val)
c.2053A>G (p.Ile685Val)
c.2152A>G (p.Ile718Val)
c.2182A>G (p.Ile728Val)
c.2173A>G (p.Ile725Val)
c.2143A>G (p.Ile715Val)
c.2086A>G (p.Ile696Val)
c.2032A>G (p.Ile678Val)
c.1825A>G (p.Ile609Val)
c.2239A>G (p.Ile747Val)
c.2233A>G (p.Ile745Val)
c.2230A>G (p.Ile744Val)
c.2290A>G (p.Ile764Val)
c.2281A>G (p.Ile761Val)
c.2200A>G (p.Ile734Val)
c.2149A>G (p.Ile717Val)
 dbSNP gnomAD v2 gnomAD v4
14g.33800438A>TCA389414033NPAS3c.2131A>T (p.Ile711Phe)
c.2140A>T (p.Ile714Phe)
c.2031A>T
c.793+2857A>T
c.2035A>T (p.Ile679Phe)
c.2092A>T (p.Ile698Phe)
c.2041A>T (p.Ile681Phe)
c.2146A>T (p.Ile716Phe)
c.2053A>T (p.Ile685Phe)
c.2152A>T (p.Ile718Phe)
c.2182A>T (p.Ile728Phe)
c.2173A>T (p.Ile725Phe)
c.2143A>T (p.Ile715Phe)
c.2086A>T (p.Ile696Phe)
c.2032A>T (p.Ile678Phe)
c.1825A>T (p.Ile609Phe)
c.2239A>T (p.Ile747Phe)
c.2233A>T (p.Ile745Phe)
c.2230A>T (p.Ile744Phe)
c.2290A>T (p.Ile764Phe)
c.2281A>T (p.Ile761Phe)
c.2200A>T (p.Ile734Phe)
c.2149A>T (p.Ile717Phe)
 gnomAD v4
14g.33800439T>ACA389414036NPAS3c.2132T>A (p.Ile711Asn)
c.2141T>A (p.Ile714Asn)
c.2032T>A
c.793+2858T>A
c.2036T>A (p.Ile679Asn)
c.2093T>A (p.Ile698Asn)
c.2042T>A (p.Ile681Asn)
c.2147T>A (p.Ile716Asn)
c.2054T>A (p.Ile685Asn)
c.2153T>A (p.Ile718Asn)
c.2183T>A (p.Ile728Asn)
c.2174T>A (p.Ile725Asn)
c.2144T>A (p.Ile715Asn)
c.2087T>A (p.Ile696Asn)
c.2033T>A (p.Ile678Asn)
c.1826T>A (p.Ile609Asn)
c.2240T>A (p.Ile747Asn)
c.2234T>A (p.Ile745Asn)
c.2231T>A (p.Ile744Asn)
c.2291T>A (p.Ile764Asn)
c.2282T>A (p.Ile761Asn)
c.2201T>A (p.Ile734Asn)
c.2150T>A (p.Ile717Asn)
14g.33800439T>CCA389414037NPAS3c.2132T>C (p.Ile711Thr)
c.2141T>C (p.Ile714Thr)
c.2032T>C
c.793+2858T>C
c.2036T>C (p.Ile679Thr)
c.2093T>C (p.Ile698Thr)
c.2042T>C (p.Ile681Thr)
c.2147T>C (p.Ile716Thr)
c.2054T>C (p.Ile685Thr)
c.2153T>C (p.Ile718Thr)
c.2183T>C (p.Ile728Thr)
c.2174T>C (p.Ile725Thr)
c.2144T>C (p.Ile715Thr)
c.2087T>C (p.Ile696Thr)
c.2033T>C (p.Ile678Thr)
c.1826T>C (p.Ile609Thr)
c.2240T>C (p.Ile747Thr)
c.2234T>C (p.Ile745Thr)
c.2231T>C (p.Ile744Thr)
c.2291T>C (p.Ile764Thr)
c.2282T>C (p.Ile761Thr)
c.2201T>C (p.Ile734Thr)
c.2150T>C (p.Ile717Thr)
 dbSNP gnomAD v3 gnomAD v4
14g.33800439T>GCA389414039NPAS3c.2132T>G (p.Ile711Ser)
c.2141T>G (p.Ile714Ser)
c.2032T>G
c.793+2858T>G
c.2036T>G (p.Ile679Ser)
c.2093T>G (p.Ile698Ser)
c.2042T>G (p.Ile681Ser)
c.2147T>G (p.Ile716Ser)
c.2054T>G (p.Ile685Ser)
c.2153T>G (p.Ile718Ser)
c.2183T>G (p.Ile728Ser)
c.2174T>G (p.Ile725Ser)
c.2144T>G (p.Ile715Ser)
c.2087T>G (p.Ile696Ser)
c.2033T>G (p.Ile678Ser)
c.1826T>G (p.Ile609Ser)
c.2240T>G (p.Ile747Ser)
c.2234T>G (p.Ile745Ser)
c.2231T>G (p.Ile744Ser)
c.2291T>G (p.Ile764Ser)
c.2282T>G (p.Ile761Ser)
c.2201T>G (p.Ile734Ser)
c.2150T>G (p.Ile717Ser)
 gnomAD v4
14g.33800439T=CA2128327499NPAS3c.2132T= (p.Ile711=)
c.2141T= (p.Ile714=)
c.2032T=
c.793+2858T=
c.2036T= (p.Ile679=)
c.2093T= (p.Ile698=)
c.2042T= (p.Ile681=)
c.2147T= (p.Ile716=)
c.2054T= (p.Ile685=)
c.2153T= (p.Ile718=)
c.2183T= (p.Ile728=)
c.2174T= (p.Ile725=)
c.2144T= (p.Ile715=)
c.2087T= (p.Ile696=)
c.2033T= (p.Ile678=)
c.1826T= (p.Ile609=)
c.2240T= (p.Ile747=)
c.2234T= (p.Ile745=)
c.2231T= (p.Ile744=)
c.2291T= (p.Ile764=)
c.2282T= (p.Ile761=)
c.2201T= (p.Ile734=)
c.2150T= (p.Ile717=)
14g.33800440T>ACA486093162NPAS3c.2133T>A (p.Ile711=)
c.2142T>A (p.Ile714=)
c.2033T>A
c.793+2859T>A
c.2037T>A (p.Ile679=)
c.2094T>A (p.Ile698=)
c.2043T>A (p.Ile681=)
c.2148T>A (p.Ile716=)
c.2055T>A (p.Ile685=)
c.2154T>A (p.Ile718=)
c.2184T>A (p.Ile728=)
c.2175T>A (p.Ile725=)
c.2145T>A (p.Ile715=)
c.2088T>A (p.Ile696=)
c.2034T>A (p.Ile678=)
c.1827T>A (p.Ile609=)
c.2241T>A (p.Ile747=)
c.2235T>A (p.Ile745=)
c.2232T>A (p.Ile744=)
c.2292T>A (p.Ile764=)
c.2283T>A (p.Ile761=)
c.2202T>A (p.Ile734=)
c.2151T>A (p.Ile717=)
14g.33800440T>CCA486093164NPAS3c.2133T>C (p.Ile711=)
c.2142T>C (p.Ile714=)
c.2033T>C
c.793+2859T>C
c.2037T>C (p.Ile679=)
c.2094T>C (p.Ile698=)
c.2043T>C (p.Ile681=)
c.2148T>C (p.Ile716=)
c.2055T>C (p.Ile685=)
c.2154T>C (p.Ile718=)
c.2184T>C (p.Ile728=)
c.2175T>C (p.Ile725=)
c.2145T>C (p.Ile715=)
c.2088T>C (p.Ile696=)
c.2034T>C (p.Ile678=)
c.1827T>C (p.Ile609=)
c.2241T>C (p.Ile747=)
c.2235T>C (p.Ile745=)
c.2232T>C (p.Ile744=)
c.2292T>C (p.Ile764=)
c.2283T>C (p.Ile761=)
c.2202T>C (p.Ile734=)
c.2151T>C (p.Ile717=)
14g.33800440T>GCA389414042NPAS3c.2133T>G (p.Ile711Met)
c.2142T>G (p.Ile714Met)
c.2033T>G
c.793+2859T>G
c.2037T>G (p.Ile679Met)
c.2094T>G (p.Ile698Met)
c.2043T>G (p.Ile681Met)
c.2148T>G (p.Ile716Met)
c.2055T>G (p.Ile685Met)
c.2154T>G (p.Ile718Met)
c.2184T>G (p.Ile728Met)
c.2175T>G (p.Ile725Met)
c.2145T>G (p.Ile715Met)
c.2088T>G (p.Ile696Met)
c.2034T>G (p.Ile678Met)
c.1827T>G (p.Ile609Met)
c.2241T>G (p.Ile747Met)
c.2235T>G (p.Ile745Met)
c.2232T>G (p.Ile744Met)
c.2292T>G (p.Ile764Met)
c.2283T>G (p.Ile761Met)
c.2202T>G (p.Ile734Met)
c.2151T>G (p.Ile717Met)
14g.33800441C>ACA389414048NPAS3c.2134C>A (p.Pro712Thr)
c.2143C>A (p.Pro715Thr)
c.2034C>A
c.793+2860C>A
c.2038C>A (p.Pro680Thr)
c.2095C>A (p.Pro699Thr)
c.2044C>A (p.Pro682Thr)
c.2149C>A (p.Pro717Thr)
c.2056C>A (p.Pro686Thr)
c.2155C>A (p.Pro719Thr)
c.2185C>A (p.Pro729Thr)
c.2176C>A (p.Pro726Thr)
c.2146C>A (p.Pro716Thr)
c.2089C>A (p.Pro697Thr)
c.2035C>A (p.Pro679Thr)
c.1828C>A (p.Pro610Thr)
c.2242C>A (p.Pro748Thr)
c.2236C>A (p.Pro746Thr)
c.2233C>A (p.Pro745Thr)
c.2293C>A (p.Pro765Thr)
c.2284C>A (p.Pro762Thr)
c.2203C>A (p.Pro735Thr)
c.2152C>A (p.Pro718Thr)
 gnomAD v4
14g.33800441C>GCA389414046NPAS3c.2134C>G (p.Pro712Ala)
c.2143C>G (p.Pro715Ala)
c.2034C>G
c.793+2860C>G
c.2038C>G (p.Pro680Ala)
c.2095C>G (p.Pro699Ala)
c.2044C>G (p.Pro682Ala)
c.2149C>G (p.Pro717Ala)
c.2056C>G (p.Pro686Ala)
c.2155C>G (p.Pro719Ala)
c.2185C>G (p.Pro729Ala)
c.2176C>G (p.Pro726Ala)
c.2146C>G (p.Pro716Ala)
c.2089C>G (p.Pro697Ala)
c.2035C>G (p.Pro679Ala)
c.1828C>G (p.Pro610Ala)
c.2242C>G (p.Pro748Ala)
c.2236C>G (p.Pro746Ala)
c.2233C>G (p.Pro745Ala)
c.2293C>G (p.Pro765Ala)
c.2284C>G (p.Pro762Ala)
c.2203C>G (p.Pro735Ala)
c.2152C>G (p.Pro718Ala)
14g.33800441C>TCA389414044NPAS3c.2134C>T (p.Pro712Ser)
c.2143C>T (p.Pro715Ser)
c.2034C>T
c.793+2860C>T
c.2038C>T (p.Pro680Ser)
c.2095C>T (p.Pro699Ser)
c.2044C>T (p.Pro682Ser)
c.2149C>T (p.Pro717Ser)
c.2056C>T (p.Pro686Ser)
c.2155C>T (p.Pro719Ser)
c.2185C>T (p.Pro729Ser)
c.2176C>T (p.Pro726Ser)
c.2146C>T (p.Pro716Ser)
c.2089C>T (p.Pro697Ser)
c.2035C>T (p.Pro679Ser)
c.1828C>T (p.Pro610Ser)
c.2242C>T (p.Pro748Ser)
c.2236C>T (p.Pro746Ser)
c.2233C>T (p.Pro745Ser)
c.2293C>T (p.Pro765Ser)
c.2284C>T (p.Pro762Ser)
c.2203C>T (p.Pro735Ser)
c.2152C>T (p.Pro718Ser)
 gnomAD v4
14g.33800442C>ACA389414049NPAS3c.2135C>A (p.Pro712His)
c.2144C>A (p.Pro715His)
c.2035C>A
c.793+2861C>A
c.2039C>A (p.Pro680His)
c.2096C>A (p.Pro699His)
c.2045C>A (p.Pro682His)
c.2150C>A (p.Pro717His)
c.2057C>A (p.Pro686His)
c.2156C>A (p.Pro719His)
c.2186C>A (p.Pro729His)
c.2177C>A (p.Pro726His)
c.2147C>A (p.Pro716His)
c.2090C>A (p.Pro697His)
c.2036C>A (p.Pro679His)
c.1829C>A (p.Pro610His)
c.2243C>A (p.Pro748His)
c.2237C>A (p.Pro746His)
c.2234C>A (p.Pro745His)
c.2294C>A (p.Pro765His)
c.2285C>A (p.Pro762His)
c.2204C>A (p.Pro735His)
c.2153C>A (p.Pro718His)
 gnomAD v4
14g.33800442C>GCA389414051NPAS3c.2135C>G (p.Pro712Arg)
c.2144C>G (p.Pro715Arg)
c.2035C>G
c.793+2861C>G
c.2039C>G (p.Pro680Arg)
c.2096C>G (p.Pro699Arg)
c.2045C>G (p.Pro682Arg)
c.2150C>G (p.Pro717Arg)
c.2057C>G (p.Pro686Arg)
c.2156C>G (p.Pro719Arg)
c.2186C>G (p.Pro729Arg)
c.2177C>G (p.Pro726Arg)
c.2147C>G (p.Pro716Arg)
c.2090C>G (p.Pro697Arg)
c.2036C>G (p.Pro679Arg)
c.1829C>G (p.Pro610Arg)
c.2243C>G (p.Pro748Arg)
c.2237C>G (p.Pro746Arg)
c.2234C>G (p.Pro745Arg)
c.2294C>G (p.Pro765Arg)
c.2285C>G (p.Pro762Arg)
c.2204C>G (p.Pro735Arg)
c.2153C>G (p.Pro718Arg)
14g.33800442C>TCA389414053NPAS3c.2135C>T (p.Pro712Leu)
c.2144C>T (p.Pro715Leu)
c.2035C>T
c.793+2861C>T
c.2039C>T (p.Pro680Leu)
c.2096C>T (p.Pro699Leu)
c.2045C>T (p.Pro682Leu)
c.2150C>T (p.Pro717Leu)
c.2057C>T (p.Pro686Leu)
c.2156C>T (p.Pro719Leu)
c.2186C>T (p.Pro729Leu)
c.2177C>T (p.Pro726Leu)
c.2147C>T (p.Pro716Leu)
c.2090C>T (p.Pro697Leu)
c.2036C>T (p.Pro679Leu)
c.1829C>T (p.Pro610Leu)
c.2243C>T (p.Pro748Leu)
c.2237C>T (p.Pro746Leu)
c.2234C>T (p.Pro745Leu)
c.2294C>T (p.Pro765Leu)
c.2285C>T (p.Pro762Leu)
c.2204C>T (p.Pro735Leu)
c.2153C>T (p.Pro718Leu)
14g.33800443C>ACA486093169NPAS3c.2136C>A (p.Pro712=)
c.2145C>A (p.Pro715=)
c.2036C>A
c.793+2862C>A
c.2040C>A (p.Pro680=)
c.2097C>A (p.Pro699=)
c.2046C>A (p.Pro682=)
c.2151C>A (p.Pro717=)
c.2058C>A (p.Pro686=)
c.2157C>A (p.Pro719=)
c.2187C>A (p.Pro729=)
c.2178C>A (p.Pro726=)
c.2148C>A (p.Pro716=)
c.2091C>A (p.Pro697=)
c.2037C>A (p.Pro679=)
c.1830C>A (p.Pro610=)
c.2244C>A (p.Pro748=)
c.2238C>A (p.Pro746=)
c.2235C>A (p.Pro745=)
c.2295C>A (p.Pro765=)
c.2286C>A (p.Pro762=)
c.2205C>A (p.Pro735=)
c.2154C>A (p.Pro718=)
 gnomAD v4
14g.33800443C=CA2128327504NPAS3c.2136C= (p.Pro712=)
c.2145C= (p.Pro715=)
c.2036C=
c.793+2862C=
c.2040C= (p.Pro680=)
c.2097C= (p.Pro699=)
c.2046C= (p.Pro682=)
c.2151C= (p.Pro717=)
c.2058C= (p.Pro686=)
c.2157C= (p.Pro719=)
c.2187C= (p.Pro729=)
c.2178C= (p.Pro726=)
c.2148C= (p.Pro716=)
c.2091C= (p.Pro697=)
c.2037C= (p.Pro679=)
c.1830C= (p.Pro610=)
c.2244C= (p.Pro748=)
c.2238C= (p.Pro746=)
c.2235C= (p.Pro745=)
c.2295C= (p.Pro765=)
c.2286C= (p.Pro762=)
c.2205C= (p.Pro735=)
c.2154C= (p.Pro718=)
14g.33800443C>GCA7150955NPAS3c.2136C>G (p.Pro712=)
c.2145C>G (p.Pro715=)
c.2036C>G
c.793+2862C>G
c.2040C>G (p.Pro680=)
c.2097C>G (p.Pro699=)
c.2046C>G (p.Pro682=)
c.2151C>G (p.Pro717=)
c.2058C>G (p.Pro686=)
c.2157C>G (p.Pro719=)
c.2187C>G (p.Pro729=)
c.2178C>G (p.Pro726=)
c.2148C>G (p.Pro716=)
c.2091C>G (p.Pro697=)
c.2037C>G (p.Pro679=)
c.1830C>G (p.Pro610=)
c.2244C>G (p.Pro748=)
c.2238C>G (p.Pro746=)
c.2235C>G (p.Pro745=)
c.2295C>G (p.Pro765=)
c.2286C>G (p.Pro762=)
c.2205C>G (p.Pro735=)
c.2154C>G (p.Pro718=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800443C>TCA7150956NPAS3c.2136C>T (p.Pro712=)
c.2145C>T (p.Pro715=)
c.2036C>T
c.793+2862C>T
c.2040C>T (p.Pro680=)
c.2097C>T (p.Pro699=)
c.2046C>T (p.Pro682=)
c.2151C>T (p.Pro717=)
c.2058C>T (p.Pro686=)
c.2157C>T (p.Pro719=)
c.2187C>T (p.Pro729=)
c.2178C>T (p.Pro726=)
c.2148C>T (p.Pro716=)
c.2091C>T (p.Pro697=)
c.2037C>T (p.Pro679=)
c.1830C>T (p.Pro610=)
c.2244C>T (p.Pro748=)
c.2238C>T (p.Pro746=)
c.2235C>T (p.Pro745=)
c.2295C>T (p.Pro765=)
c.2286C>T (p.Pro762=)
c.2205C>T (p.Pro735=)
c.2154C>T (p.Pro718=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800444G>ACA389414058NPAS3c.2137G>A (p.Asp713Asn)
c.2146G>A (p.Asp716Asn)
c.2037G>A
c.793+2863G>A
c.2041G>A (p.Asp681Asn)
c.2098G>A (p.Asp700Asn)
c.2047G>A (p.Asp683Asn)
c.2152G>A (p.Asp718Asn)
c.2059G>A (p.Asp687Asn)
c.2158G>A (p.Asp720Asn)
c.2188G>A (p.Asp730Asn)
c.2179G>A (p.Asp727Asn)
c.2149G>A (p.Asp717Asn)
c.2092G>A (p.Asp698Asn)
c.2038G>A (p.Asp680Asn)
c.1831G>A (p.Asp611Asn)
c.2245G>A (p.Asp749Asn)
c.2239G>A (p.Asp747Asn)
c.2236G>A (p.Asp746Asn)
c.2296G>A (p.Asp766Asn)
c.2287G>A (p.Asp763Asn)
c.2206G>A (p.Asp736Asn)
c.2155G>A (p.Asp719Asn)
 dbSNP gnomAD v4
14g.33800444G>CCA389414060NPAS3c.2137G>C (p.Asp713His)
c.2146G>C (p.Asp716His)
c.2037G>C
c.793+2863G>C
c.2041G>C (p.Asp681His)
c.2098G>C (p.Asp700His)
c.2047G>C (p.Asp683His)
c.2152G>C (p.Asp718His)
c.2059G>C (p.Asp687His)
c.2158G>C (p.Asp720His)
c.2188G>C (p.Asp730His)
c.2179G>C (p.Asp727His)
c.2149G>C (p.Asp717His)
c.2092G>C (p.Asp698His)
c.2038G>C (p.Asp680His)
c.1831G>C (p.Asp611His)
c.2245G>C (p.Asp749His)
c.2239G>C (p.Asp747His)
c.2236G>C (p.Asp746His)
c.2296G>C (p.Asp766His)
c.2287G>C (p.Asp763His)
c.2206G>C (p.Asp736His)
c.2155G>C (p.Asp719His)
14g.33800444G=CA2128327507NPAS3c.2137G= (p.Asp713=)
c.2146G= (p.Asp716=)
c.2037G=
c.793+2863G=
c.2041G= (p.Asp681=)
c.2098G= (p.Asp700=)
c.2047G= (p.Asp683=)
c.2152G= (p.Asp718=)
c.2059G= (p.Asp687=)
c.2158G= (p.Asp720=)
c.2188G= (p.Asp730=)
c.2179G= (p.Asp727=)
c.2149G= (p.Asp717=)
c.2092G= (p.Asp698=)
c.2038G= (p.Asp680=)
c.1831G= (p.Asp611=)
c.2245G= (p.Asp749=)
c.2239G= (p.Asp747=)
c.2236G= (p.Asp746=)
c.2296G= (p.Asp766=)
c.2287G= (p.Asp763=)
c.2206G= (p.Asp736=)
c.2155G= (p.Asp719=)
14g.33800444G>TCA389414061NPAS3c.2137G>T (p.Asp713Tyr)
c.2146G>T (p.Asp716Tyr)
c.2037G>T
c.793+2863G>T
c.2041G>T (p.Asp681Tyr)
c.2098G>T (p.Asp700Tyr)
c.2047G>T (p.Asp683Tyr)
c.2152G>T (p.Asp718Tyr)
c.2059G>T (p.Asp687Tyr)
c.2158G>T (p.Asp720Tyr)
c.2188G>T (p.Asp730Tyr)
c.2179G>T (p.Asp727Tyr)
c.2149G>T (p.Asp717Tyr)
c.2092G>T (p.Asp698Tyr)
c.2038G>T (p.Asp680Tyr)
c.1831G>T (p.Asp611Tyr)
c.2245G>T (p.Asp749Tyr)
c.2239G>T (p.Asp747Tyr)
c.2236G>T (p.Asp746Tyr)
c.2296G>T (p.Asp766Tyr)
c.2287G>T (p.Asp763Tyr)
c.2206G>T (p.Asp736Tyr)
c.2155G>T (p.Asp719Tyr)
 dbSNP gnomAD v2 gnomAD v4
14g.33800445A=CA2128327510NPAS3c.2138A= (p.Asp713=)
c.2147A= (p.Asp716=)
c.2038A=
c.793+2864A=
c.2042A= (p.Asp681=)
c.2099A= (p.Asp700=)
c.2048A= (p.Asp683=)
c.2153A= (p.Asp718=)
c.2060A= (p.Asp687=)
c.2159A= (p.Asp720=)
c.2189A= (p.Asp730=)
c.2180A= (p.Asp727=)
c.2150A= (p.Asp717=)
c.2093A= (p.Asp698=)
c.2039A= (p.Asp680=)
c.1832A= (p.Asp611=)
c.2246A= (p.Asp749=)
c.2240A= (p.Asp747=)
c.2237A= (p.Asp746=)
c.2297A= (p.Asp766=)
c.2288A= (p.Asp763=)
c.2207A= (p.Asp736=)
c.2156A= (p.Asp719=)
14g.33800445A>CCA389414062NPAS3c.2138A>C (p.Asp713Ala)
c.2147A>C (p.Asp716Ala)
c.2038A>C
c.793+2864A>C
c.2042A>C (p.Asp681Ala)
c.2099A>C (p.Asp700Ala)
c.2048A>C (p.Asp683Ala)
c.2153A>C (p.Asp718Ala)
c.2060A>C (p.Asp687Ala)
c.2159A>C (p.Asp720Ala)
c.2189A>C (p.Asp730Ala)
c.2180A>C (p.Asp727Ala)
c.2150A>C (p.Asp717Ala)
c.2093A>C (p.Asp698Ala)
c.2039A>C (p.Asp680Ala)
c.1832A>C (p.Asp611Ala)
c.2246A>C (p.Asp749Ala)
c.2240A>C (p.Asp747Ala)
c.2237A>C (p.Asp746Ala)
c.2297A>C (p.Asp766Ala)
c.2288A>C (p.Asp763Ala)
c.2207A>C (p.Asp736Ala)
c.2156A>C (p.Asp719Ala)
14g.33800445A>GCA389414063NPAS3c.2138A>G (p.Asp713Gly)
c.2147A>G (p.Asp716Gly)
c.2038A>G
c.793+2864A>G
c.2042A>G (p.Asp681Gly)
c.2099A>G (p.Asp700Gly)
c.2048A>G (p.Asp683Gly)
c.2153A>G (p.Asp718Gly)
c.2060A>G (p.Asp687Gly)
c.2159A>G (p.Asp720Gly)
c.2189A>G (p.Asp730Gly)
c.2180A>G (p.Asp727Gly)
c.2150A>G (p.Asp717Gly)
c.2093A>G (p.Asp698Gly)
c.2039A>G (p.Asp680Gly)
c.1832A>G (p.Asp611Gly)
c.2246A>G (p.Asp749Gly)
c.2240A>G (p.Asp747Gly)
c.2237A>G (p.Asp746Gly)
c.2297A>G (p.Asp766Gly)
c.2288A>G (p.Asp763Gly)
c.2207A>G (p.Asp736Gly)
c.2156A>G (p.Asp719Gly)
14g.33800445A>TCA389414064NPAS3c.2138A>T (p.Asp713Val)
c.2147A>T (p.Asp716Val)
c.2038A>T
c.793+2864A>T
c.2042A>T (p.Asp681Val)
c.2099A>T (p.Asp700Val)
c.2048A>T (p.Asp683Val)
c.2153A>T (p.Asp718Val)
c.2060A>T (p.Asp687Val)
c.2159A>T (p.Asp720Val)
c.2189A>T (p.Asp730Val)
c.2180A>T (p.Asp727Val)
c.2150A>T (p.Asp717Val)
c.2093A>T (p.Asp698Val)
c.2039A>T (p.Asp680Val)
c.1832A>T (p.Asp611Val)
c.2246A>T (p.Asp749Val)
c.2240A>T (p.Asp747Val)
c.2237A>T (p.Asp746Val)
c.2297A>T (p.Asp766Val)
c.2288A>T (p.Asp763Val)
c.2207A>T (p.Asp736Val)
c.2156A>T (p.Asp719Val)
 dbSNP gnomAD v2
14g.33800446C>ACA389414065NPAS3c.2139C>A (p.Asp713Glu)
c.2148C>A (p.Asp716Glu)
c.2039C>A
c.793+2865C>A
c.2043C>A (p.Asp681Glu)
c.2100C>A (p.Asp700Glu)
c.2049C>A (p.Asp683Glu)
c.2154C>A (p.Asp718Glu)
c.2061C>A (p.Asp687Glu)
c.2160C>A (p.Asp720Glu)
c.2190C>A (p.Asp730Glu)
c.2181C>A (p.Asp727Glu)
c.2151C>A (p.Asp717Glu)
c.2094C>A (p.Asp698Glu)
c.2040C>A (p.Asp680Glu)
c.1833C>A (p.Asp611Glu)
c.2247C>A (p.Asp749Glu)
c.2241C>A (p.Asp747Glu)
c.2238C>A (p.Asp746Glu)
c.2298C>A (p.Asp766Glu)
c.2289C>A (p.Asp763Glu)
c.2208C>A (p.Asp736Glu)
c.2157C>A (p.Asp719Glu)
14g.33800446C>GCA389414066NPAS3c.2139C>G (p.Asp713Glu)
c.2148C>G (p.Asp716Glu)
c.2039C>G
c.793+2865C>G
c.2043C>G (p.Asp681Glu)
c.2100C>G (p.Asp700Glu)
c.2049C>G (p.Asp683Glu)
c.2154C>G (p.Asp718Glu)
c.2061C>G (p.Asp687Glu)
c.2160C>G (p.Asp720Glu)
c.2190C>G (p.Asp730Glu)
c.2181C>G (p.Asp727Glu)
c.2151C>G (p.Asp717Glu)
c.2094C>G (p.Asp698Glu)
c.2040C>G (p.Asp680Glu)
c.1833C>G (p.Asp611Glu)
c.2247C>G (p.Asp749Glu)
c.2241C>G (p.Asp747Glu)
c.2238C>G (p.Asp746Glu)
c.2298C>G (p.Asp766Glu)
c.2289C>G (p.Asp763Glu)
c.2208C>G (p.Asp736Glu)
c.2157C>G (p.Asp719Glu)
14g.33800446C>TCA486093170NPAS3c.2139C>T (p.Asp713=)
c.2148C>T (p.Asp716=)
c.2039C>T
c.793+2865C>T
c.2043C>T (p.Asp681=)
c.2100C>T (p.Asp700=)
c.2049C>T (p.Asp683=)
c.2154C>T (p.Asp718=)
c.2061C>T (p.Asp687=)
c.2160C>T (p.Asp720=)
c.2190C>T (p.Asp730=)
c.2181C>T (p.Asp727=)
c.2151C>T (p.Asp717=)
c.2094C>T (p.Asp698=)
c.2040C>T (p.Asp680=)
c.1833C>T (p.Asp611=)
c.2247C>T (p.Asp749=)
c.2241C>T (p.Asp747=)
c.2238C>T (p.Asp746=)
c.2298C>T (p.Asp766=)
c.2289C>T (p.Asp763=)
c.2208C>T (p.Asp736=)
c.2157C>T (p.Asp719=)
14g.33800447T>ACA389414069NPAS3c.2140T>A (p.Ser714Thr)
c.2149T>A (p.Ser717Thr)
c.2040T>A
c.793+2866T>A
c.2044T>A (p.Ser682Thr)
c.2101T>A (p.Ser701Thr)
c.2050T>A (p.Ser684Thr)
c.2155T>A (p.Ser719Thr)
c.2062T>A (p.Ser688Thr)
c.2161T>A (p.Ser721Thr)
c.2191T>A (p.Ser731Thr)
c.2182T>A (p.Ser728Thr)
c.2152T>A (p.Ser718Thr)
c.2095T>A (p.Ser699Thr)
c.2041T>A (p.Ser681Thr)
c.1834T>A (p.Ser612Thr)
c.2248T>A (p.Ser750Thr)
c.2242T>A (p.Ser748Thr)
c.2239T>A (p.Ser747Thr)
c.2299T>A (p.Ser767Thr)
c.2290T>A (p.Ser764Thr)
c.2209T>A (p.Ser737Thr)
c.2158T>A (p.Ser720Thr)
14g.33800447T>CCA389414068NPAS3c.2140T>C (p.Ser714Pro)
c.2149T>C (p.Ser717Pro)
c.2040T>C
c.793+2866T>C
c.2044T>C (p.Ser682Pro)
c.2101T>C (p.Ser701Pro)
c.2050T>C (p.Ser684Pro)
c.2155T>C (p.Ser719Pro)
c.2062T>C (p.Ser688Pro)
c.2161T>C (p.Ser721Pro)
c.2191T>C (p.Ser731Pro)
c.2182T>C (p.Ser728Pro)
c.2152T>C (p.Ser718Pro)
c.2095T>C (p.Ser699Pro)
c.2041T>C (p.Ser681Pro)
c.1834T>C (p.Ser612Pro)
c.2248T>C (p.Ser750Pro)
c.2242T>C (p.Ser748Pro)
c.2239T>C (p.Ser747Pro)
c.2299T>C (p.Ser767Pro)
c.2290T>C (p.Ser764Pro)
c.2209T>C (p.Ser737Pro)
c.2158T>C (p.Ser720Pro)
14g.33800447T>GCA389414067NPAS3c.2140T>G (p.Ser714Ala)
c.2149T>G (p.Ser717Ala)
c.2040T>G
c.793+2866T>G
c.2044T>G (p.Ser682Ala)
c.2101T>G (p.Ser701Ala)
c.2050T>G (p.Ser684Ala)
c.2155T>G (p.Ser719Ala)
c.2062T>G (p.Ser688Ala)
c.2161T>G (p.Ser721Ala)
c.2191T>G (p.Ser731Ala)
c.2182T>G (p.Ser728Ala)
c.2152T>G (p.Ser718Ala)
c.2095T>G (p.Ser699Ala)
c.2041T>G (p.Ser681Ala)
c.1834T>G (p.Ser612Ala)
c.2248T>G (p.Ser750Ala)
c.2242T>G (p.Ser748Ala)
c.2239T>G (p.Ser747Ala)
c.2299T>G (p.Ser767Ala)
c.2290T>G (p.Ser764Ala)
c.2209T>G (p.Ser737Ala)
c.2158T>G (p.Ser720Ala)
14g.33800448C>ACA389414070NPAS3c.2141C>A (p.Ser714Ter)
c.2150C>A (p.Ser717Ter)
c.2041C>A
c.793+2867C>A
c.2045C>A (p.Ser682Ter)
c.2102C>A (p.Ser701Ter)
c.2051C>A (p.Ser684Ter)
c.2156C>A (p.Ser719Ter)
c.2063C>A (p.Ser688Ter)
c.2162C>A (p.Ser721Ter)
c.2192C>A (p.Ser731Ter)
c.2183C>A (p.Ser728Ter)
c.2153C>A (p.Ser718Ter)
c.2096C>A (p.Ser699Ter)
c.2042C>A (p.Ser681Ter)
c.1835C>A (p.Ser612Ter)
c.2249C>A (p.Ser750Ter)
c.2243C>A (p.Ser748Ter)
c.2240C>A (p.Ser747Ter)
c.2300C>A (p.Ser767Ter)
c.2291C>A (p.Ser764Ter)
c.2210C>A (p.Ser737Ter)
c.2159C>A (p.Ser720Ter)
 gnomAD v4
14g.33800448C=CA2128327515NPAS3c.2141C= (p.Ser714=)
c.2150C= (p.Ser717=)
c.2041C=
c.793+2867C=
c.2045C= (p.Ser682=)
c.2102C= (p.Ser701=)
c.2051C= (p.Ser684=)
c.2156C= (p.Ser719=)
c.2063C= (p.Ser688=)
c.2162C= (p.Ser721=)
c.2192C= (p.Ser731=)
c.2183C= (p.Ser728=)
c.2153C= (p.Ser718=)
c.2096C= (p.Ser699=)
c.2042C= (p.Ser681=)
c.1835C= (p.Ser612=)
c.2249C= (p.Ser750=)
c.2243C= (p.Ser748=)
c.2240C= (p.Ser747=)
c.2300C= (p.Ser767=)
c.2291C= (p.Ser764=)
c.2210C= (p.Ser737=)
c.2159C= (p.Ser720=)
14g.33800448C>GCA389414071NPAS3c.2141C>G (p.Ser714Trp)
c.2150C>G (p.Ser717Trp)
c.2041C>G
c.793+2867C>G
c.2045C>G (p.Ser682Trp)
c.2102C>G (p.Ser701Trp)
c.2051C>G (p.Ser684Trp)
c.2156C>G (p.Ser719Trp)
c.2063C>G (p.Ser688Trp)
c.2162C>G (p.Ser721Trp)
c.2192C>G (p.Ser731Trp)
c.2183C>G (p.Ser728Trp)
c.2153C>G (p.Ser718Trp)
c.2096C>G (p.Ser699Trp)
c.2042C>G (p.Ser681Trp)
c.1835C>G (p.Ser612Trp)
c.2249C>G (p.Ser750Trp)
c.2243C>G (p.Ser748Trp)
c.2240C>G (p.Ser747Trp)
c.2300C>G (p.Ser767Trp)
c.2291C>G (p.Ser764Trp)
c.2210C>G (p.Ser737Trp)
c.2159C>G (p.Ser720Trp)
14g.33800448C>TCA7150957NPAS3c.2141C>T (p.Ser714Leu)
c.2150C>T (p.Ser717Leu)
c.2041C>T
c.793+2867C>T
c.2045C>T (p.Ser682Leu)
c.2102C>T (p.Ser701Leu)
c.2051C>T (p.Ser684Leu)
c.2156C>T (p.Ser719Leu)
c.2063C>T (p.Ser688Leu)
c.2162C>T (p.Ser721Leu)
c.2192C>T (p.Ser731Leu)
c.2183C>T (p.Ser728Leu)
c.2153C>T (p.Ser718Leu)
c.2096C>T (p.Ser699Leu)
c.2042C>T (p.Ser681Leu)
c.1835C>T (p.Ser612Leu)
c.2249C>T (p.Ser750Leu)
c.2243C>T (p.Ser748Leu)
c.2240C>T (p.Ser747Leu)
c.2300C>T (p.Ser767Leu)
c.2291C>T (p.Ser764Leu)
c.2210C>T (p.Ser737Leu)
c.2159C>T (p.Ser720Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800449G>ACA486093171NPAS3c.2142G>A (p.Ser714=)
c.2151G>A (p.Ser717=)
c.2042G>A
c.793+2868G>A
c.2046G>A (p.Ser682=)
c.2103G>A (p.Ser701=)
c.2052G>A (p.Ser684=)
c.2157G>A (p.Ser719=)
c.2064G>A (p.Ser688=)
c.2163G>A (p.Ser721=)
c.2193G>A (p.Ser731=)
c.2184G>A (p.Ser728=)
c.2154G>A (p.Ser718=)
c.2097G>A (p.Ser699=)
c.2043G>A (p.Ser681=)
c.1836G>A (p.Ser612=)
c.2250G>A (p.Ser750=)
c.2244G>A (p.Ser748=)
c.2241G>A (p.Ser747=)
c.2301G>A (p.Ser767=)
c.2292G>A (p.Ser764=)
c.2211G>A (p.Ser737=)
c.2160G>A (p.Ser720=)
 dbSNP gnomAD v3 gnomAD v4
14g.33800449G>CCA486093172NPAS3c.2142G>C (p.Ser714=)
c.2151G>C (p.Ser717=)
c.2042G>C
c.793+2868G>C
c.2046G>C (p.Ser682=)
c.2103G>C (p.Ser701=)
c.2052G>C (p.Ser684=)
c.2157G>C (p.Ser719=)
c.2064G>C (p.Ser688=)
c.2163G>C (p.Ser721=)
c.2193G>C (p.Ser731=)
c.2184G>C (p.Ser728=)
c.2154G>C (p.Ser718=)
c.2097G>C (p.Ser699=)
c.2043G>C (p.Ser681=)
c.1836G>C (p.Ser612=)
c.2250G>C (p.Ser750=)
c.2244G>C (p.Ser748=)
c.2241G>C (p.Ser747=)
c.2301G>C (p.Ser767=)
c.2292G>C (p.Ser764=)
c.2211G>C (p.Ser737=)
c.2160G>C (p.Ser720=)
14g.33800449G=CA2128327519NPAS3c.2142G= (p.Ser714=)
c.2151G= (p.Ser717=)
c.2042G=
c.793+2868G=
c.2046G= (p.Ser682=)
c.2103G= (p.Ser701=)
c.2052G= (p.Ser684=)
c.2157G= (p.Ser719=)
c.2064G= (p.Ser688=)
c.2163G= (p.Ser721=)
c.2193G= (p.Ser731=)
c.2184G= (p.Ser728=)
c.2154G= (p.Ser718=)
c.2097G= (p.Ser699=)
c.2043G= (p.Ser681=)
c.1836G= (p.Ser612=)
c.2250G= (p.Ser750=)
c.2244G= (p.Ser748=)
c.2241G= (p.Ser747=)
c.2301G= (p.Ser767=)
c.2292G= (p.Ser764=)
c.2211G= (p.Ser737=)
c.2160G= (p.Ser720=)
14g.33800449G>TCA486093173NPAS3c.2142G>T (p.Ser714=)
c.2151G>T (p.Ser717=)
c.2042G>T
c.793+2868G>T
c.2046G>T (p.Ser682=)
c.2103G>T (p.Ser701=)
c.2052G>T (p.Ser684=)
c.2157G>T (p.Ser719=)
c.2064G>T (p.Ser688=)
c.2163G>T (p.Ser721=)
c.2193G>T (p.Ser731=)
c.2184G>T (p.Ser728=)
c.2154G>T (p.Ser718=)
c.2097G>T (p.Ser699=)
c.2043G>T (p.Ser681=)
c.1836G>T (p.Ser612=)
c.2250G>T (p.Ser750=)
c.2244G>T (p.Ser748=)
c.2241G>T (p.Ser747=)
c.2301G>T (p.Ser767=)
c.2292G>T (p.Ser764=)
c.2211G>T (p.Ser737=)
c.2160G>T (p.Ser720=)
 gnomAD v4
14g.33800450G>ACA7150958NPAS3c.2143G>A (p.Val715Ile)
c.2152G>A (p.Val718Ile)
c.2043G>A
c.793+2869G>A
c.2047G>A (p.Val683Ile)
c.2104G>A (p.Val702Ile)
c.2053G>A (p.Val685Ile)
c.2158G>A (p.Val720Ile)
c.2065G>A (p.Val689Ile)
c.2164G>A (p.Val722Ile)
c.2194G>A (p.Val732Ile)
c.2185G>A (p.Val729Ile)
c.2155G>A (p.Val719Ile)
c.2098G>A (p.Val700Ile)
c.2044G>A (p.Val682Ile)
c.1837G>A (p.Val613Ile)
c.2251G>A (p.Val751Ile)
c.2245G>A (p.Val749Ile)
c.2242G>A (p.Val748Ile)
c.2302G>A (p.Val768Ile)
c.2293G>A (p.Val765Ile)
c.2212G>A (p.Val738Ile)
c.2161G>A (p.Val721Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800450G>CCA389414073NPAS3c.2143G>C (p.Val715Leu)
c.2152G>C (p.Val718Leu)
c.2043G>C
c.793+2869G>C
c.2047G>C (p.Val683Leu)
c.2104G>C (p.Val702Leu)
c.2053G>C (p.Val685Leu)
c.2158G>C (p.Val720Leu)
c.2065G>C (p.Val689Leu)
c.2164G>C (p.Val722Leu)
c.2194G>C (p.Val732Leu)
c.2185G>C (p.Val729Leu)
c.2155G>C (p.Val719Leu)
c.2098G>C (p.Val700Leu)
c.2044G>C (p.Val682Leu)
c.1837G>C (p.Val613Leu)
c.2251G>C (p.Val751Leu)
c.2245G>C (p.Val749Leu)
c.2242G>C (p.Val748Leu)
c.2302G>C (p.Val768Leu)
c.2293G>C (p.Val765Leu)
c.2212G>C (p.Val738Leu)
c.2161G>C (p.Val721Leu)
14g.33800450G=CA2128327523NPAS3c.2143G= (p.Val715=)
c.2152G= (p.Val718=)
c.2043G=
c.793+2869G=
c.2047G= (p.Val683=)
c.2104G= (p.Val702=)
c.2053G= (p.Val685=)
c.2158G= (p.Val720=)
c.2065G= (p.Val689=)
c.2164G= (p.Val722=)
c.2194G= (p.Val732=)
c.2185G= (p.Val729=)
c.2155G= (p.Val719=)
c.2098G= (p.Val700=)
c.2044G= (p.Val682=)
c.1837G= (p.Val613=)
c.2251G= (p.Val751=)
c.2245G= (p.Val749=)
c.2242G= (p.Val748=)
c.2302G= (p.Val768=)
c.2293G= (p.Val765=)
c.2212G= (p.Val738=)
c.2161G= (p.Val721=)
14g.33800450G>TCA389414072NPAS3c.2143G>T (p.Val715Phe)
c.2152G>T (p.Val718Phe)
c.2043G>T
c.793+2869G>T
c.2047G>T (p.Val683Phe)
c.2104G>T (p.Val702Phe)
c.2053G>T (p.Val685Phe)
c.2158G>T (p.Val720Phe)
c.2065G>T (p.Val689Phe)
c.2164G>T (p.Val722Phe)
c.2194G>T (p.Val732Phe)
c.2185G>T (p.Val729Phe)
c.2155G>T (p.Val719Phe)
c.2098G>T (p.Val700Phe)
c.2044G>T (p.Val682Phe)
c.1837G>T (p.Val613Phe)
c.2251G>T (p.Val751Phe)
c.2245G>T (p.Val749Phe)
c.2242G>T (p.Val748Phe)
c.2302G>T (p.Val768Phe)
c.2293G>T (p.Val765Phe)
c.2212G>T (p.Val738Phe)
c.2161G>T (p.Val721Phe)
14g.33800451T>ACA389414074NPAS3c.2144T>A (p.Val715Asp)
c.2153T>A (p.Val718Asp)
c.2044T>A
c.793+2870T>A
c.2048T>A (p.Val683Asp)
c.2105T>A (p.Val702Asp)
c.2054T>A (p.Val685Asp)
c.2159T>A (p.Val720Asp)
c.2066T>A (p.Val689Asp)
c.2165T>A (p.Val722Asp)
c.2195T>A (p.Val732Asp)
c.2186T>A (p.Val729Asp)
c.2156T>A (p.Val719Asp)
c.2099T>A (p.Val700Asp)
c.2045T>A (p.Val682Asp)
c.1838T>A (p.Val613Asp)
c.2252T>A (p.Val751Asp)
c.2246T>A (p.Val749Asp)
c.2243T>A (p.Val748Asp)
c.2303T>A (p.Val768Asp)
c.2294T>A (p.Val765Asp)
c.2213T>A (p.Val738Asp)
c.2162T>A (p.Val721Asp)
14g.33800451T>CCA389414075NPAS3c.2144T>C (p.Val715Ala)
c.2153T>C (p.Val718Ala)
c.2044T>C
c.793+2870T>C
c.2048T>C (p.Val683Ala)
c.2105T>C (p.Val702Ala)
c.2054T>C (p.Val685Ala)
c.2159T>C (p.Val720Ala)
c.2066T>C (p.Val689Ala)
c.2165T>C (p.Val722Ala)
c.2195T>C (p.Val732Ala)
c.2186T>C (p.Val729Ala)
c.2156T>C (p.Val719Ala)
c.2099T>C (p.Val700Ala)
c.2045T>C (p.Val682Ala)
c.1838T>C (p.Val613Ala)
c.2252T>C (p.Val751Ala)
c.2246T>C (p.Val749Ala)
c.2243T>C (p.Val748Ala)
c.2303T>C (p.Val768Ala)
c.2294T>C (p.Val765Ala)
c.2213T>C (p.Val738Ala)
c.2162T>C (p.Val721Ala)
14g.33800451T>GCA389414076NPAS3c.2144T>G (p.Val715Gly)
c.2153T>G (p.Val718Gly)
c.2044T>G
c.793+2870T>G
c.2048T>G (p.Val683Gly)
c.2105T>G (p.Val702Gly)
c.2054T>G (p.Val685Gly)
c.2159T>G (p.Val720Gly)
c.2066T>G (p.Val689Gly)
c.2165T>G (p.Val722Gly)
c.2195T>G (p.Val732Gly)
c.2186T>G (p.Val729Gly)
c.2156T>G (p.Val719Gly)
c.2099T>G (p.Val700Gly)
c.2045T>G (p.Val682Gly)
c.1838T>G (p.Val613Gly)
c.2252T>G (p.Val751Gly)
c.2246T>G (p.Val749Gly)
c.2243T>G (p.Val748Gly)
c.2303T>G (p.Val768Gly)
c.2294T>G (p.Val765Gly)
c.2213T>G (p.Val738Gly)
c.2162T>G (p.Val721Gly)
14g.33800452C>ACA486093174NPAS3c.2145C>A (p.Val715=)
c.2154C>A (p.Val718=)
c.2045C>A
c.793+2871C>A
c.2049C>A (p.Val683=)
c.2106C>A (p.Val702=)
c.2055C>A (p.Val685=)
c.2160C>A (p.Val720=)
c.2067C>A (p.Val689=)
c.2166C>A (p.Val722=)
c.2196C>A (p.Val732=)
c.2187C>A (p.Val729=)
c.2157C>A (p.Val719=)
c.2100C>A (p.Val700=)
c.2046C>A (p.Val682=)
c.1839C>A (p.Val613=)
c.2253C>A (p.Val751=)
c.2247C>A (p.Val749=)
c.2244C>A (p.Val748=)
c.2304C>A (p.Val768=)
c.2295C>A (p.Val765=)
c.2214C>A (p.Val738=)
c.2163C>A (p.Val721=)
14g.33800452C>GCA486093176NPAS3c.2145C>G (p.Val715=)
c.2154C>G (p.Val718=)
c.2045C>G
c.793+2871C>G
c.2049C>G (p.Val683=)
c.2106C>G (p.Val702=)
c.2055C>G (p.Val685=)
c.2160C>G (p.Val720=)
c.2067C>G (p.Val689=)
c.2166C>G (p.Val722=)
c.2196C>G (p.Val732=)
c.2187C>G (p.Val729=)
c.2157C>G (p.Val719=)
c.2100C>G (p.Val700=)
c.2046C>G (p.Val682=)
c.1839C>G (p.Val613=)
c.2253C>G (p.Val751=)
c.2247C>G (p.Val749=)
c.2244C>G (p.Val748=)
c.2304C>G (p.Val768=)
c.2295C>G (p.Val765=)
c.2214C>G (p.Val738=)
c.2163C>G (p.Val721=)
14g.33800452C>TCA486093175NPAS3c.2145C>T (p.Val715=)
c.2154C>T (p.Val718=)
c.2045C>T
c.793+2871C>T
c.2049C>T (p.Val683=)
c.2106C>T (p.Val702=)
c.2055C>T (p.Val685=)
c.2160C>T (p.Val720=)
c.2067C>T (p.Val689=)
c.2166C>T (p.Val722=)
c.2196C>T (p.Val732=)
c.2187C>T (p.Val729=)
c.2157C>T (p.Val719=)
c.2100C>T (p.Val700=)
c.2046C>T (p.Val682=)
c.1839C>T (p.Val613=)
c.2253C>T (p.Val751=)
c.2247C>T (p.Val749=)
c.2244C>T (p.Val748=)
c.2304C>T (p.Val768=)
c.2295C>T (p.Val765=)
c.2214C>T (p.Val738=)
c.2163C>T (p.Val721=)
 gnomAD v4
14g.33800453C>ACA389414077NPAS3c.2146C>A (p.Leu716Ile)
c.2155C>A (p.Leu719Ile)
c.2046C>A
c.793+2872C>A
c.2050C>A (p.Leu684Ile)
c.2107C>A (p.Leu703Ile)
c.2056C>A (p.Leu686Ile)
c.2161C>A (p.Leu721Ile)
c.2068C>A (p.Leu690Ile)
c.2167C>A (p.Leu723Ile)
c.2197C>A (p.Leu733Ile)
c.2188C>A (p.Leu730Ile)
c.2158C>A (p.Leu720Ile)
c.2101C>A (p.Leu701Ile)
c.2047C>A (p.Leu683Ile)
c.1840C>A (p.Leu614Ile)
c.2254C>A (p.Leu752Ile)
c.2248C>A (p.Leu750Ile)
c.2245C>A (p.Leu749Ile)
c.2305C>A (p.Leu769Ile)
c.2296C>A (p.Leu766Ile)
c.2215C>A (p.Leu739Ile)
c.2164C>A (p.Leu722Ile)
 gnomAD v4
14g.33800453C>GCA389414078NPAS3c.2146C>G (p.Leu716Val)
c.2155C>G (p.Leu719Val)
c.2046C>G
c.793+2872C>G
c.2050C>G (p.Leu684Val)
c.2107C>G (p.Leu703Val)
c.2056C>G (p.Leu686Val)
c.2161C>G (p.Leu721Val)
c.2068C>G (p.Leu690Val)
c.2167C>G (p.Leu723Val)
c.2197C>G (p.Leu733Val)
c.2188C>G (p.Leu730Val)
c.2158C>G (p.Leu720Val)
c.2101C>G (p.Leu701Val)
c.2047C>G (p.Leu683Val)
c.1840C>G (p.Leu614Val)
c.2254C>G (p.Leu752Val)
c.2248C>G (p.Leu750Val)
c.2245C>G (p.Leu749Val)
c.2305C>G (p.Leu769Val)
c.2296C>G (p.Leu766Val)
c.2215C>G (p.Leu739Val)
c.2164C>G (p.Leu722Val)
14g.33800453C>TCA389414079NPAS3c.2146C>T (p.Leu716Phe)
c.2155C>T (p.Leu719Phe)
c.2046C>T
c.793+2872C>T
c.2050C>T (p.Leu684Phe)
c.2107C>T (p.Leu703Phe)
c.2056C>T (p.Leu686Phe)
c.2161C>T (p.Leu721Phe)
c.2068C>T (p.Leu690Phe)
c.2167C>T (p.Leu723Phe)
c.2197C>T (p.Leu733Phe)
c.2188C>T (p.Leu730Phe)
c.2158C>T (p.Leu720Phe)
c.2101C>T (p.Leu701Phe)
c.2047C>T (p.Leu683Phe)
c.1840C>T (p.Leu614Phe)
c.2254C>T (p.Leu752Phe)
c.2248C>T (p.Leu750Phe)
c.2245C>T (p.Leu749Phe)
c.2305C>T (p.Leu769Phe)
c.2296C>T (p.Leu766Phe)
c.2215C>T (p.Leu739Phe)
c.2164C>T (p.Leu722Phe)
 ClinVar
14g.33800454T>ACA389414080NPAS3c.2147T>A (p.Leu716His)
c.2156T>A (p.Leu719His)
c.2047T>A
c.793+2873T>A
c.2051T>A (p.Leu684His)
c.2108T>A (p.Leu703His)
c.2057T>A (p.Leu686His)
c.2162T>A (p.Leu721His)
c.2069T>A (p.Leu690His)
c.2168T>A (p.Leu723His)
c.2198T>A (p.Leu733His)
c.2189T>A (p.Leu730His)
c.2159T>A (p.Leu720His)
c.2102T>A (p.Leu701His)
c.2048T>A (p.Leu683His)
c.1841T>A (p.Leu614His)
c.2255T>A (p.Leu752His)
c.2249T>A (p.Leu750His)
c.2246T>A (p.Leu749His)
c.2306T>A (p.Leu769His)
c.2297T>A (p.Leu766His)
c.2216T>A (p.Leu739His)
c.2165T>A (p.Leu722His)
14g.33800454T>CCA389414081NPAS3c.2147T>C (p.Leu716Pro)
c.2156T>C (p.Leu719Pro)
c.2047T>C
c.793+2873T>C
c.2051T>C (p.Leu684Pro)
c.2108T>C (p.Leu703Pro)
c.2057T>C (p.Leu686Pro)
c.2162T>C (p.Leu721Pro)
c.2069T>C (p.Leu690Pro)
c.2168T>C (p.Leu723Pro)
c.2198T>C (p.Leu733Pro)
c.2189T>C (p.Leu730Pro)
c.2159T>C (p.Leu720Pro)
c.2102T>C (p.Leu701Pro)
c.2048T>C (p.Leu683Pro)
c.1841T>C (p.Leu614Pro)
c.2255T>C (p.Leu752Pro)
c.2249T>C (p.Leu750Pro)
c.2246T>C (p.Leu749Pro)
c.2306T>C (p.Leu769Pro)
c.2297T>C (p.Leu766Pro)
c.2216T>C (p.Leu739Pro)
c.2165T>C (p.Leu722Pro)
 dbSNP gnomAD v4
14g.33800454T>GCA389414082NPAS3c.2147T>G (p.Leu716Arg)
c.2156T>G (p.Leu719Arg)
c.2047T>G
c.793+2873T>G
c.2051T>G (p.Leu684Arg)
c.2108T>G (p.Leu703Arg)
c.2057T>G (p.Leu686Arg)
c.2162T>G (p.Leu721Arg)
c.2069T>G (p.Leu690Arg)
c.2168T>G (p.Leu723Arg)
c.2198T>G (p.Leu733Arg)
c.2189T>G (p.Leu730Arg)
c.2159T>G (p.Leu720Arg)
c.2102T>G (p.Leu701Arg)
c.2048T>G (p.Leu683Arg)
c.1841T>G (p.Leu614Arg)
c.2255T>G (p.Leu752Arg)
c.2249T>G (p.Leu750Arg)
c.2246T>G (p.Leu749Arg)
c.2306T>G (p.Leu769Arg)
c.2297T>G (p.Leu766Arg)
c.2216T>G (p.Leu739Arg)
c.2165T>G (p.Leu722Arg)
14g.33800455C>ACA486093179NPAS3c.2148C>A (p.Leu716=)
c.2157C>A (p.Leu719=)
c.2048C>A
c.793+2874C>A
c.2052C>A (p.Leu684=)
c.2109C>A (p.Leu703=)
c.2058C>A (p.Leu686=)
c.2163C>A (p.Leu721=)
c.2070C>A (p.Leu690=)
c.2169C>A (p.Leu723=)
c.2199C>A (p.Leu733=)
c.2190C>A (p.Leu730=)
c.2160C>A (p.Leu720=)
c.2103C>A (p.Leu701=)
c.2049C>A (p.Leu683=)
c.1842C>A (p.Leu614=)
c.2256C>A (p.Leu752=)
c.2250C>A (p.Leu750=)
c.2247C>A (p.Leu749=)
c.2307C>A (p.Leu769=)
c.2298C>A (p.Leu766=)
c.2217C>A (p.Leu739=)
c.2166C>A (p.Leu722=)
14g.33800455C=CA2128327528NPAS3c.2148C= (p.Leu716=)
c.2157C= (p.Leu719=)
c.2048C=
c.793+2874C=
c.2052C= (p.Leu684=)
c.2109C= (p.Leu703=)
c.2058C= (p.Leu686=)
c.2163C= (p.Leu721=)
c.2070C= (p.Leu690=)
c.2169C= (p.Leu723=)
c.2199C= (p.Leu733=)
c.2190C= (p.Leu730=)
c.2160C= (p.Leu720=)
c.2103C= (p.Leu701=)
c.2049C= (p.Leu683=)
c.1842C= (p.Leu614=)
c.2256C= (p.Leu752=)
c.2250C= (p.Leu750=)
c.2247C= (p.Leu749=)
c.2307C= (p.Leu769=)
c.2298C= (p.Leu766=)
c.2217C= (p.Leu739=)
c.2166C= (p.Leu722=)
14g.33800455C>GCA486093180NPAS3c.2148C>G (p.Leu716=)
c.2157C>G (p.Leu719=)
c.2048C>G
c.793+2874C>G
c.2052C>G (p.Leu684=)
c.2109C>G (p.Leu703=)
c.2058C>G (p.Leu686=)
c.2163C>G (p.Leu721=)
c.2070C>G (p.Leu690=)
c.2169C>G (p.Leu723=)
c.2199C>G (p.Leu733=)
c.2190C>G (p.Leu730=)
c.2160C>G (p.Leu720=)
c.2103C>G (p.Leu701=)
c.2049C>G (p.Leu683=)
c.1842C>G (p.Leu614=)
c.2256C>G (p.Leu752=)
c.2250C>G (p.Leu750=)
c.2247C>G (p.Leu749=)
c.2307C>G (p.Leu769=)
c.2298C>G (p.Leu766=)
c.2217C>G (p.Leu739=)
c.2166C>G (p.Leu722=)
14g.33800455C>TCA7150959NPAS3c.2148C>T (p.Leu716=)
c.2157C>T (p.Leu719=)
c.2048C>T
c.793+2874C>T
c.2052C>T (p.Leu684=)
c.2109C>T (p.Leu703=)
c.2058C>T (p.Leu686=)
c.2163C>T (p.Leu721=)
c.2070C>T (p.Leu690=)
c.2169C>T (p.Leu723=)
c.2199C>T (p.Leu733=)
c.2190C>T (p.Leu730=)
c.2160C>T (p.Leu720=)
c.2103C>T (p.Leu701=)
c.2049C>T (p.Leu683=)
c.1842C>T (p.Leu614=)
c.2256C>T (p.Leu752=)
c.2250C>T (p.Leu750=)
c.2247C>T (p.Leu749=)
c.2307C>T (p.Leu769=)
c.2298C>T (p.Leu766=)
c.2217C>T (p.Leu739=)
c.2166C>T (p.Leu722=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.33800456A>CCA389414085NPAS3c.2149A>C (p.Thr717Pro)
c.2158A>C (p.Thr720Pro)
c.2049A>C
c.793+2875A>C
c.2053A>C (p.Thr685Pro)
c.2110A>C (p.Thr704Pro)
c.2059A>C (p.Thr687Pro)
c.2164A>C (p.Thr722Pro)
c.2071A>C (p.Thr691Pro)
c.2170A>C (p.Thr724Pro)
c.2200A>C (p.Thr734Pro)
c.2191A>C (p.Thr731Pro)
c.2161A>C (p.Thr721Pro)
c.2104A>C (p.Thr702Pro)
c.2050A>C (p.Thr684Pro)
c.1843A>C (p.Thr615Pro)
c.2257A>C (p.Thr753Pro)
c.2251A>C (p.Thr751Pro)
c.2248A>C (p.Thr750Pro)
c.2308A>C (p.Thr770Pro)
c.2299A>C (p.Thr767Pro)
c.2218A>C (p.Thr740Pro)
c.2167A>C (p.Thr723Pro)
14g.33800456A>GCA389414083NPAS3c.2149A>G (p.Thr717Ala)
c.2158A>G (p.Thr720Ala)
c.2049A>G
c.793+2875A>G
c.2053A>G (p.Thr685Ala)
c.2110A>G (p.Thr704Ala)
c.2059A>G (p.Thr687Ala)
c.2164A>G (p.Thr722Ala)
c.2071A>G (p.Thr691Ala)
c.2170A>G (p.Thr724Ala)
c.2200A>G (p.Thr734Ala)
c.2191A>G (p.Thr731Ala)
c.2161A>G (p.Thr721Ala)
c.2104A>G (p.Thr702Ala)
c.2050A>G (p.Thr684Ala)
c.1843A>G (p.Thr615Ala)
c.2257A>G (p.Thr753Ala)
c.2251A>G (p.Thr751Ala)
c.2248A>G (p.Thr750Ala)
c.2308A>G (p.Thr770Ala)
c.2299A>G (p.Thr767Ala)
c.2218A>G (p.Thr740Ala)
c.2167A>G (p.Thr723Ala)
14g.33800456A>TCA389414084NPAS3c.2149A>T (p.Thr717Ser)
c.2158A>T (p.Thr720Ser)
c.2049A>T
c.793+2875A>T
c.2053A>T (p.Thr685Ser)
c.2110A>T (p.Thr704Ser)
c.2059A>T (p.Thr687Ser)
c.2164A>T (p.Thr722Ser)
c.2071A>T (p.Thr691Ser)
c.2170A>T (p.Thr724Ser)
c.2200A>T (p.Thr734Ser)
c.2191A>T (p.Thr731Ser)
c.2161A>T (p.Thr721Ser)
c.2104A>T (p.Thr702Ser)
c.2050A>T (p.Thr684Ser)
c.1843A>T (p.Thr615Ser)
c.2257A>T (p.Thr753Ser)
c.2251A>T (p.Thr751Ser)
c.2248A>T (p.Thr750Ser)
c.2308A>T (p.Thr770Ser)
c.2299A>T (p.Thr767Ser)
c.2218A>T (p.Thr740Ser)
c.2167A>T (p.Thr723Ser)
14g.33800457C>ACA389414086NPAS3c.2150C>A (p.Thr717Asn)
c.2159C>A (p.Thr720Asn)
c.2050C>A
c.793+2876C>A
c.2054C>A (p.Thr685Asn)
c.2111C>A (p.Thr704Asn)
c.2060C>A (p.Thr687Asn)
c.2165C>A (p.Thr722Asn)
c.2072C>A (p.Thr691Asn)
c.2171C>A (p.Thr724Asn)
c.2201C>A (p.Thr734Asn)
c.2192C>A (p.Thr731Asn)
c.2162C>A (p.Thr721Asn)
c.2105C>A (p.Thr702Asn)
c.2051C>A (p.Thr684Asn)
c.1844C>A (p.Thr615Asn)
c.2258C>A (p.Thr753Asn)
c.2252C>A (p.Thr751Asn)
c.2249C>A (p.Thr750Asn)
c.2309C>A (p.Thr770Asn)
c.2300C>A (p.Thr767Asn)
c.2219C>A (p.Thr740Asn)
c.2168C>A (p.Thr723Asn)
 gnomAD v4
14g.33800457C=CA2128327534NPAS3c.2150C= (p.Thr717=)
c.2159C= (p.Thr720=)
c.2050C=
c.793+2876C=
c.2054C= (p.Thr685=)
c.2111C= (p.Thr704=)
c.2060C= (p.Thr687=)
c.2165C= (p.Thr722=)
c.2072C= (p.Thr691=)
c.2171C= (p.Thr724=)
c.2201C= (p.Thr734=)
c.2192C= (p.Thr731=)
c.2162C= (p.Thr721=)
c.2105C= (p.Thr702=)
c.2051C= (p.Thr684=)
c.1844C= (p.Thr615=)
c.2258C= (p.Thr753=)
c.2252C= (p.Thr751=)
c.2249C= (p.Thr750=)
c.2309C= (p.Thr770=)
c.2300C= (p.Thr767=)
c.2219C= (p.Thr740=)
c.2168C= (p.Thr723=)
14g.33800457C>GCA389414087NPAS3c.2150C>G (p.Thr717Ser)
c.2159C>G (p.Thr720Ser)
c.2050C>G
c.793+2876C>G
c.2054C>G (p.Thr685Ser)
c.2111C>G (p.Thr704Ser)
c.2060C>G (p.Thr687Ser)
c.2165C>G (p.Thr722Ser)
c.2072C>G (p.Thr691Ser)
c.2171C>G (p.Thr724Ser)
c.2201C>G (p.Thr734Ser)
c.2192C>G (p.Thr731Ser)
c.2162C>G (p.Thr721Ser)
c.2105C>G (p.Thr702Ser)
c.2051C>G (p.Thr684Ser)
c.1844C>G (p.Thr615Ser)
c.2258C>G (p.Thr753Ser)
c.2252C>G (p.Thr751Ser)
c.2249C>G (p.Thr750Ser)
c.2309C>G (p.Thr770Ser)
c.2300C>G (p.Thr767Ser)
c.2219C>G (p.Thr740Ser)
c.2168C>G (p.Thr723Ser)
14g.33800457C>TCA389414088NPAS3c.2150C>T (p.Thr717Ile)
c.2159C>T (p.Thr720Ile)
c.2050C>T
c.793+2876C>T
c.2054C>T (p.Thr685Ile)
c.2111C>T (p.Thr704Ile)
c.2060C>T (p.Thr687Ile)
c.2165C>T (p.Thr722Ile)
c.2072C>T (p.Thr691Ile)
c.2171C>T (p.Thr724Ile)
c.2201C>T (p.Thr734Ile)
c.2192C>T (p.Thr731Ile)
c.2162C>T (p.Thr721Ile)
c.2105C>T (p.Thr702Ile)
c.2051C>T (p.Thr684Ile)
c.1844C>T (p.Thr615Ile)
c.2258C>T (p.Thr753Ile)
c.2252C>T (p.Thr751Ile)
c.2249C>T (p.Thr750Ile)
c.2309C>T (p.Thr770Ile)
c.2300C>T (p.Thr767Ile)
c.2219C>T (p.Thr740Ile)
c.2168C>T (p.Thr723Ile)
 dbSNP gnomAD v4
14g.33800460delCA2624512036NPAS3c.2153del (p.Pro718ArgfsTer?)
c.2162del (p.Pro721ArgfsTer?)
c.2053del
c.793+2879del
c.2057del (p.Pro686ArgfsTer?)
c.2114del (p.Pro705ArgfsTer?)
c.2063del (p.Pro688ArgfsTer?)
c.2168del (p.Pro723ArgfsTer?)
c.2075del (p.Pro692ArgfsTer?)
c.2174del (p.Pro725ArgfsTer?)
c.2204del (p.Pro735ArgfsTer?)
c.2195del (p.Pro732ArgfsTer?)
c.2165del (p.Pro722ArgfsTer?)
c.2108del (p.Pro703ArgfsTer?)
c.2054del (p.Pro685ArgfsTer?)
c.1847del (p.Pro616ArgfsTer?)
c.2261del (p.Pro754ArgfsTer?)
c.2255del (p.Pro752ArgfsTer?)
c.2252del (p.Pro751ArgfsTer?)
c.2312del (p.Pro771ArgfsTer?)
c.2303del (p.Pro768ArgfsTer?)
c.2222del (p.Pro741ArgfsTer?)
c.2171del (p.Pro724ArgfsTer?)
 gnomAD v4
14g.33800458C>ACA486093183NPAS3c.2151C>A (p.Thr717=)
c.2160C>A (p.Thr720=)
c.2051C>A
c.793+2877C>A
c.2055C>A (p.Thr685=)
c.2112C>A (p.Thr704=)
c.2061C>A (p.Thr687=)
c.2166C>A (p.Thr722=)
c.2073C>A (p.Thr691=)
c.2172C>A (p.Thr724=)
c.2202C>A (p.Thr734=)
c.2193C>A (p.Thr731=)
c.2163C>A (p.Thr721=)
c.2106C>A (p.Thr702=)
c.2052C>A (p.Thr684=)
c.1845C>A (p.Thr615=)
c.2259C>A (p.Thr753=)
c.2253C>A (p.Thr751=)
c.2250C>A (p.Thr750=)
c.2310C>A (p.Thr770=)
c.2301C>A (p.Thr767=)
c.2220C>A (p.Thr740=)
c.2169C>A (p.Thr723=)
 dbSNP gnomAD v4
14g.33800458C=CA2128327539NPAS3c.2151C= (p.Thr717=)
c.2160C= (p.Thr720=)
c.2051C=
c.793+2877C=
c.2055C= (p.Thr685=)
c.2112C= (p.Thr704=)
c.2061C= (p.Thr687=)
c.2166C= (p.Thr722=)
c.2073C= (p.Thr691=)
c.2172C= (p.Thr724=)
c.2202C= (p.Thr734=)
c.2193C= (p.Thr731=)
c.2163C= (p.Thr721=)
c.2106C= (p.Thr702=)
c.2052C= (p.Thr684=)
c.1845C= (p.Thr615=)
c.2259C= (p.Thr753=)
c.2253C= (p.Thr751=)
c.2250C= (p.Thr750=)
c.2310C= (p.Thr770=)
c.2301C= (p.Thr767=)
c.2220C= (p.Thr740=)
c.2169C= (p.Thr723=)
14g.33800458C>GCA486093184NPAS3c.2151C>G (p.Thr717=)
c.2160C>G (p.Thr720=)
c.2051C>G
c.793+2877C>G
c.2055C>G (p.Thr685=)
c.2112C>G (p.Thr704=)
c.2061C>G (p.Thr687=)
c.2166C>G (p.Thr722=)
c.2073C>G (p.Thr691=)
c.2172C>G (p.Thr724=)
c.2202C>G (p.Thr734=)
c.2193C>G (p.Thr731=)
c.2163C>G (p.Thr721=)
c.2106C>G (p.Thr702=)
c.2052C>G (p.Thr684=)
c.1845C>G (p.Thr615=)
c.2259C>G (p.Thr753=)
c.2253C>G (p.Thr751=)
c.2250C>G (p.Thr750=)
c.2310C>G (p.Thr770=)
c.2301C>G (p.Thr767=)
c.2220C>G (p.Thr740=)
c.2169C>G (p.Thr723=)
14g.33800458C>TCA486093185NPAS3c.2151C>T (p.Thr717=)
c.2160C>T (p.Thr720=)
c.2051C>T
c.793+2877C>T
c.2055C>T (p.Thr685=)
c.2112C>T (p.Thr704=)
c.2061C>T (p.Thr687=)
c.2166C>T (p.Thr722=)
c.2073C>T (p.Thr691=)
c.2172C>T (p.Thr724=)
c.2202C>T (p.Thr734=)
c.2193C>T (p.Thr731=)
c.2163C>T (p.Thr721=)
c.2106C>T (p.Thr702=)
c.2052C>T (p.Thr684=)
c.1845C>T (p.Thr615=)
c.2259C>T (p.Thr753=)
c.2253C>T (p.Thr751=)
c.2250C>T (p.Thr750=)
c.2310C>T (p.Thr770=)
c.2301C>T (p.Thr767=)
c.2220C>T (p.Thr740=)
c.2169C>T (p.Thr723=)
 dbSNP
14g.33800462_33800465dupCA705154827NPAS3c.2155_2158dup (p.Gly720AlafsTer?)
c.2164_2167dup (p.Gly723AlafsTer?)
c.2055_2058dup
c.793+2881_793+2884dup
c.2059_2062dup (p.Gly688AlafsTer?)
c.2116_2119dup (p.Gly707AlafsTer?)
c.2065_2068dup (p.Gly690AlafsTer?)
c.2170_2173dup (p.Gly725AlafsTer?)
c.2077_2080dup (p.Gly694AlafsTer?)
c.2176_2179dup (p.Gly727AlafsTer?)
c.2206_2209dup (p.Gly737AlafsTer?)
c.2197_2200dup (p.Gly734AlafsTer?)
c.2167_2170dup (p.Gly724AlafsTer?)
c.2110_2113dup (p.Gly705AlafsTer?)
c.2056_2059dup (p.Gly687AlafsTer?)
c.1849_1852dup (p.Gly618AlafsTer?)
c.2263_2266dup (p.Gly756AlafsTer?)
c.2257_2260dup (p.Gly754AlafsTer?)
c.2254_2257dup (p.Gly753AlafsTer?)
c.2314_2317dup (p.Gly773AlafsTer?)
c.2305_2308dup (p.Gly770AlafsTer?)
c.2224_2227dup (p.Gly743AlafsTer?)
c.2173_2176dup (p.Gly726AlafsTer?)
 dbSNP
14g.33800459C>ACA389414089NPAS3c.2152C>A (p.Pro718Thr)
c.2161C>A (p.Pro721Thr)
c.2052C>A
c.793+2878C>A
c.2056C>A (p.Pro686Thr)
c.2113C>A (p.Pro705Thr)
c.2062C>A (p.Pro688Thr)
c.2167C>A (p.Pro723Thr)
c.2074C>A (p.Pro692Thr)
c.2173C>A (p.Pro725Thr)
c.2203C>A (p.Pro735Thr)
c.2194C>A (p.Pro732Thr)
c.2164C>A (p.Pro722Thr)
c.2107C>A (p.Pro703Thr)
c.2053C>A (p.Pro685Thr)
c.1846C>A (p.Pro616Thr)
c.2260C>A (p.Pro754Thr)
c.2254C>A (p.Pro752Thr)
c.2251C>A (p.Pro751Thr)
c.2311C>A (p.Pro771Thr)
c.2302C>A (p.Pro768Thr)
c.2221C>A (p.Pro741Thr)
c.2170C>A (p.Pro724Thr)
 gnomAD v4
14g.33800459C=CA2128327543NPAS3c.2152C= (p.Pro718=)
c.2161C= (p.Pro721=)
c.2052C=
c.793+2878C=
c.2056C= (p.Pro686=)
c.2113C= (p.Pro705=)
c.2062C= (p.Pro688=)
c.2167C= (p.Pro723=)
c.2074C= (p.Pro692=)
c.2173C= (p.Pro725=)
c.2203C= (p.Pro735=)
c.2194C= (p.Pro732=)
c.2164C= (p.Pro722=)
c.2107C= (p.Pro703=)
c.2053C= (p.Pro685=)
c.1846C= (p.Pro616=)
c.2260C= (p.Pro754=)
c.2254C= (p.Pro752=)
c.2251C= (p.Pro751=)
c.2311C= (p.Pro771=)
c.2302C= (p.Pro768=)
c.2221C= (p.Pro741=)
c.2170C= (p.Pro724=)
14g.33800459C>GCA389414090NPAS3c.2152C>G (p.Pro718Ala)
c.2161C>G (p.Pro721Ala)
c.2052C>G
c.793+2878C>G
c.2056C>G (p.Pro686Ala)
c.2113C>G (p.Pro705Ala)
c.2062C>G (p.Pro688Ala)
c.2167C>G (p.Pro723Ala)
c.2074C>G (p.Pro692Ala)
c.2173C>G (p.Pro725Ala)
c.2203C>G (p.Pro735Ala)
c.2194C>G (p.Pro732Ala)
c.2164C>G (p.Pro722Ala)
c.2107C>G (p.Pro703Ala)
c.2053C>G (p.Pro685Ala)
c.1846C>G (p.Pro616Ala)
c.2260C>G (p.Pro754Ala)
c.2254C>G (p.Pro752Ala)
c.2251C>G (p.Pro751Ala)
c.2311C>G (p.Pro771Ala)
c.2302C>G (p.Pro768Ala)
c.2221C>G (p.Pro741Ala)
c.2170C>G (p.Pro724Ala)
14g.33800459C>TCA389414091NPAS3c.2152C>T (p.Pro718Ser)
c.2161C>T (p.Pro721Ser)
c.2052C>T
c.793+2878C>T
c.2056C>T (p.Pro686Ser)
c.2113C>T (p.Pro705Ser)
c.2062C>T (p.Pro688Ser)
c.2167C>T (p.Pro723Ser)
c.2074C>T (p.Pro692Ser)
c.2173C>T (p.Pro725Ser)
c.2203C>T (p.Pro735Ser)
c.2194C>T (p.Pro732Ser)
c.2164C>T (p.Pro722Ser)
c.2107C>T (p.Pro703Ser)
c.2053C>T (p.Pro685Ser)
c.1846C>T (p.Pro616Ser)
c.2260C>T (p.Pro754Ser)
c.2254C>T (p.Pro752Ser)
c.2251C>T (p.Pro751Ser)
c.2311C>T (p.Pro771Ser)
c.2302C>T (p.Pro768Ser)
c.2221C>T (p.Pro741Ser)
c.2170C>T (p.Pro724Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.33800460C>ACA389414092NPAS3c.2153C>A (p.Pro718Gln)
c.2162C>A (p.Pro721Gln)
c.2053C>A
c.793+2879C>A
c.2057C>A (p.Pro686Gln)
c.2114C>A (p.Pro705Gln)
c.2063C>A (p.Pro688Gln)
c.2168C>A (p.Pro723Gln)
c.2075C>A (p.Pro692Gln)
c.2174C>A (p.Pro725Gln)
c.2204C>A (p.Pro735Gln)
c.2195C>A (p.Pro732Gln)
c.2165C>A (p.Pro722Gln)
c.2108C>A (p.Pro703Gln)
c.2054C>A (p.Pro685Gln)
c.1847C>A (p.Pro616Gln)
c.2261C>A (p.Pro754Gln)
c.2255C>A (p.Pro752Gln)
c.2252C>A (p.Pro751Gln)
c.2312C>A (p.Pro771Gln)
c.2303C>A (p.Pro768Gln)
c.2222C>A (p.Pro741Gln)
c.2171C>A (p.Pro724Gln)
 gnomAD v4
14g.33800460C=CA2128327547NPAS3c.2153C= (p.Pro718=)
c.2162C= (p.Pro721=)
c.2053C=
c.793+2879C=
c.2057C= (p.Pro686=)
c.2114C= (p.Pro705=)
c.2063C= (p.Pro688=)
c.2168C= (p.Pro723=)
c.2075C= (p.Pro692=)
c.2174C= (p.Pro725=)
c.2204C= (p.Pro735=)
c.2195C= (p.Pro732=)
c.2165C= (p.Pro722=)
c.2108C= (p.Pro703=)
c.2054C= (p.Pro685=)
c.1847C= (p.Pro616=)
c.2261C= (p.Pro754=)
c.2255C= (p.Pro752=)
c.2252C= (p.Pro751=)
c.2312C= (p.Pro771=)
c.2303C= (p.Pro768=)
c.2222C= (p.Pro741=)
c.2171C= (p.Pro724=)
14g.33800460C>GCA389414093NPAS3c.2153C>G (p.Pro718Arg)
c.2162C>G (p.Pro721Arg)
c.2053C>G
c.793+2879C>G
c.2057C>G (p.Pro686Arg)
c.2114C>G (p.Pro705Arg)
c.2063C>G (p.Pro688Arg)
c.2168C>G (p.Pro723Arg)
c.2075C>G (p.Pro692Arg)
c.2174C>G (p.Pro725Arg)
c.2204C>G (p.Pro735Arg)
c.2195C>G (p.Pro732Arg)
c.2165C>G (p.Pro722Arg)
c.2108C>G (p.Pro703Arg)
c.2054C>G (p.Pro685Arg)
c.1847C>G (p.Pro616Arg)
c.2261C>G (p.Pro754Arg)
c.2255C>G (p.Pro752Arg)
c.2252C>G (p.Pro751Arg)
c.2312C>G (p.Pro771Arg)
c.2303C>G (p.Pro768Arg)
c.2222C>G (p.Pro741Arg)
c.2171C>G (p.Pro724Arg)
 dbSNP
14g.33800460C>TCA389414094NPAS3c.2153C>T (p.Pro718Leu)
c.2162C>T (p.Pro721Leu)
c.2053C>T
c.793+2879C>T
c.2057C>T (p.Pro686Leu)
c.2114C>T (p.Pro705Leu)
c.2063C>T (p.Pro688Leu)
c.2168C>T (p.Pro723Leu)
c.2075C>T (p.Pro692Leu)
c.2174C>T (p.Pro725Leu)
c.2204C>T (p.Pro735Leu)
c.2195C>T (p.Pro732Leu)
c.2165C>T (p.Pro722Leu)
c.2108C>T (p.Pro703Leu)
c.2054C>T (p.Pro685Leu)
c.1847C>T (p.Pro616Leu)
c.2261C>T (p.Pro754Leu)
c.2255C>T (p.Pro752Leu)
c.2252C>T (p.Pro751Leu)
c.2312C>T (p.Pro771Leu)
c.2303C>T (p.Pro768Leu)
c.2222C>T (p.Pro741Leu)
c.2171C>T (p.Pro724Leu)
 gnomAD v4
14g.33800461G>ACA486093190NPAS3c.2154G>A (p.Pro718=)
c.2163G>A (p.Pro721=)
c.2054G>A
c.793+2880G>A
c.2058G>A (p.Pro686=)
c.2115G>A (p.Pro705=)
c.2064G>A (p.Pro688=)
c.2169G>A (p.Pro723=)
c.2076G>A (p.Pro692=)
c.2175G>A (p.Pro725=)
c.2205G>A (p.Pro735=)
c.2196G>A (p.Pro732=)
c.2166G>A (p.Pro722=)
c.2109G>A (p.Pro703=)
c.2055G>A (p.Pro685=)
c.1848G>A (p.Pro616=)
c.2262G>A (p.Pro754=)
c.2256G>A (p.Pro752=)
c.2253G>A (p.Pro751=)
c.2313G>A (p.Pro771=)
c.2304G>A (p.Pro768=)
c.2223G>A (p.Pro741=)
c.2172G>A (p.Pro724=)
 gnomAD v4
14g.33800461G>CCA486093191NPAS3c.2154G>C (p.Pro718=)
c.2163G>C (p.Pro721=)
c.2054G>C
c.793+2880G>C
c.2058G>C (p.Pro686=)
c.2115G>C (p.Pro705=)
c.2064G>C (p.Pro688=)
c.2169G>C (p.Pro723=)
c.2076G>C (p.Pro692=)
c.2175G>C (p.Pro725=)
c.2205G>C (p.Pro735=)
c.2196G>C (p.Pro732=)
c.2166G>C (p.Pro722=)
c.2109G>C (p.Pro703=)
c.2055G>C (p.Pro685=)
c.1848G>C (p.Pro616=)
c.2262G>C (p.Pro754=)
c.2256G>C (p.Pro752=)
c.2253G>C (p.Pro751=)
c.2313G>C (p.Pro771=)
c.2304G>C (p.Pro768=)
c.2223G>C (p.Pro741=)
c.2172G>C (p.Pro724=)
14g.33800461G=CA2128327550NPAS3c.2154G= (p.Pro718=)
c.2163G= (p.Pro721=)
c.2054G=
c.793+2880G=
c.2058G= (p.Pro686=)
c.2115G= (p.Pro705=)
c.2064G= (p.Pro688=)
c.2169G= (p.Pro723=)
c.2076G= (p.Pro692=)
c.2175G= (p.Pro725=)
c.2205G= (p.Pro735=)
c.2196G= (p.Pro732=)
c.2166G= (p.Pro722=)
c.2109G= (p.Pro703=)
c.2055G= (p.Pro685=)
c.1848G= (p.Pro616=)
c.2262G= (p.Pro754=)
c.2256G= (p.Pro752=)
c.2253G= (p.Pro751=)
c.2313G= (p.Pro771=)
c.2304G= (p.Pro768=)
c.2223G= (p.Pro741=)
c.2172G= (p.Pro724=)
14g.33800461G>TCA258719192NPAS3c.2154G>T (p.Pro718=)
c.2163G>T (p.Pro721=)
c.2054G>T
c.793+2880G>T
c.2058G>T (p.Pro686=)
c.2115G>T (p.Pro705=)
c.2064G>T (p.Pro688=)
c.2169G>T (p.Pro723=)
c.2076G>T (p.Pro692=)
c.2175G>T (p.Pro725=)
c.2205G>T (p.Pro735=)
c.2196G>T (p.Pro732=)
c.2166G>T (p.Pro722=)
c.2109G>T (p.Pro703=)
c.2055G>T (p.Pro685=)
c.1848G>T (p.Pro616=)
c.2262G>T (p.Pro754=)
c.2256G>T (p.Pro752=)
c.2253G>T (p.Pro751=)
c.2313G>T (p.Pro771=)
c.2304G>T (p.Pro768=)
c.2223G>T (p.Pro741=)
c.2172G>T (p.Pro724=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800462C>ACA389414096NPAS3c.2155C>A (p.Pro719Thr)
c.2164C>A (p.Pro722Thr)
c.2055C>A
c.793+2881C>A
c.2059C>A (p.Pro687Thr)
c.2116C>A (p.Pro706Thr)
c.2065C>A (p.Pro689Thr)
c.2170C>A (p.Pro724Thr)
c.2077C>A (p.Pro693Thr)
c.2176C>A (p.Pro726Thr)
c.2206C>A (p.Pro736Thr)
c.2197C>A (p.Pro733Thr)
c.2167C>A (p.Pro723Thr)
c.2110C>A (p.Pro704Thr)
c.2056C>A (p.Pro686Thr)
c.1849C>A (p.Pro617Thr)
c.2263C>A (p.Pro755Thr)
c.2257C>A (p.Pro753Thr)
c.2254C>A (p.Pro752Thr)
c.2314C>A (p.Pro772Thr)
c.2305C>A (p.Pro769Thr)
c.2224C>A (p.Pro742Thr)
c.2173C>A (p.Pro725Thr)
14g.33800462C>GCA389414097NPAS3c.2155C>G (p.Pro719Ala)
c.2164C>G (p.Pro722Ala)
c.2055C>G
c.793+2881C>G
c.2059C>G (p.Pro687Ala)
c.2116C>G (p.Pro706Ala)
c.2065C>G (p.Pro689Ala)
c.2170C>G (p.Pro724Ala)
c.2077C>G (p.Pro693Ala)
c.2176C>G (p.Pro726Ala)
c.2206C>G (p.Pro736Ala)
c.2197C>G (p.Pro733Ala)
c.2167C>G (p.Pro723Ala)
c.2110C>G (p.Pro704Ala)
c.2056C>G (p.Pro686Ala)
c.1849C>G (p.Pro617Ala)
c.2263C>G (p.Pro755Ala)
c.2257C>G (p.Pro753Ala)
c.2254C>G (p.Pro752Ala)
c.2314C>G (p.Pro772Ala)
c.2305C>G (p.Pro769Ala)
c.2224C>G (p.Pro742Ala)
c.2173C>G (p.Pro725Ala)
14g.33800462C>TCA389414095NPAS3c.2155C>T (p.Pro719Ser)
c.2164C>T (p.Pro722Ser)
c.2055C>T
c.793+2881C>T
c.2059C>T (p.Pro687Ser)
c.2116C>T (p.Pro706Ser)
c.2065C>T (p.Pro689Ser)
c.2170C>T (p.Pro724Ser)
c.2077C>T (p.Pro693Ser)
c.2176C>T (p.Pro726Ser)
c.2206C>T (p.Pro736Ser)
c.2197C>T (p.Pro733Ser)
c.2167C>T (p.Pro723Ser)
c.2110C>T (p.Pro704Ser)
c.2056C>T (p.Pro686Ser)
c.1849C>T (p.Pro617Ser)
c.2263C>T (p.Pro755Ser)
c.2257C>T (p.Pro753Ser)
c.2254C>T (p.Pro752Ser)
c.2314C>T (p.Pro772Ser)
c.2305C>T (p.Pro769Ser)
c.2224C>T (p.Pro742Ser)
c.2173C>T (p.Pro725Ser)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800463C>ACA389414098NPAS3c.2156C>A (p.Pro719His)
c.2165C>A (p.Pro722His)
c.2056C>A
c.793+2882C>A
c.2060C>A (p.Pro687His)
c.2117C>A (p.Pro706His)
c.2066C>A (p.Pro689His)
c.2171C>A (p.Pro724His)
c.2078C>A (p.Pro693His)
c.2177C>A (p.Pro726His)
c.2207C>A (p.Pro736His)
c.2198C>A (p.Pro733His)
c.2168C>A (p.Pro723His)
c.2111C>A (p.Pro704His)
c.2057C>A (p.Pro686His)
c.1850C>A (p.Pro617His)
c.2264C>A (p.Pro755His)
c.2258C>A (p.Pro753His)
c.2255C>A (p.Pro752His)
c.2315C>A (p.Pro772His)
c.2306C>A (p.Pro769His)
c.2225C>A (p.Pro742His)
c.2174C>A (p.Pro725His)
 gnomAD v4
14g.33800463C>GCA389414099NPAS3c.2156C>G (p.Pro719Arg)
c.2165C>G (p.Pro722Arg)
c.2056C>G
c.793+2882C>G
c.2060C>G (p.Pro687Arg)
c.2117C>G (p.Pro706Arg)
c.2066C>G (p.Pro689Arg)
c.2171C>G (p.Pro724Arg)
c.2078C>G (p.Pro693Arg)
c.2177C>G (p.Pro726Arg)
c.2207C>G (p.Pro736Arg)
c.2198C>G (p.Pro733Arg)
c.2168C>G (p.Pro723Arg)
c.2111C>G (p.Pro704Arg)
c.2057C>G (p.Pro686Arg)
c.1850C>G (p.Pro617Arg)
c.2264C>G (p.Pro755Arg)
c.2258C>G (p.Pro753Arg)
c.2255C>G (p.Pro752Arg)
c.2315C>G (p.Pro772Arg)
c.2306C>G (p.Pro769Arg)
c.2225C>G (p.Pro742Arg)
c.2174C>G (p.Pro725Arg)
14g.33800463C>TCA389414100NPAS3c.2156C>T (p.Pro719Leu)
c.2165C>T (p.Pro722Leu)
c.2056C>T
c.793+2882C>T
c.2060C>T (p.Pro687Leu)
c.2117C>T (p.Pro706Leu)
c.2066C>T (p.Pro689Leu)
c.2171C>T (p.Pro724Leu)
c.2078C>T (p.Pro693Leu)
c.2177C>T (p.Pro726Leu)
c.2207C>T (p.Pro736Leu)
c.2198C>T (p.Pro733Leu)
c.2168C>T (p.Pro723Leu)
c.2111C>T (p.Pro704Leu)
c.2057C>T (p.Pro686Leu)
c.1850C>T (p.Pro617Leu)
c.2264C>T (p.Pro755Leu)
c.2258C>T (p.Pro753Leu)
c.2255C>T (p.Pro752Leu)
c.2315C>T (p.Pro772Leu)
c.2306C>T (p.Pro769Leu)
c.2225C>T (p.Pro742Leu)
c.2174C>T (p.Pro725Leu)
14g.33800464C>ACA486093195NPAS3c.2157C>A (p.Pro719=)
c.2166C>A (p.Pro722=)
c.2057C>A
c.793+2883C>A
c.2061C>A (p.Pro687=)
c.2118C>A (p.Pro706=)
c.2067C>A (p.Pro689=)
c.2172C>A (p.Pro724=)
c.2079C>A (p.Pro693=)
c.2178C>A (p.Pro726=)
c.2208C>A (p.Pro736=)
c.2199C>A (p.Pro733=)
c.2169C>A (p.Pro723=)
c.2112C>A (p.Pro704=)
c.2058C>A (p.Pro686=)
c.1851C>A (p.Pro617=)
c.2265C>A (p.Pro755=)
c.2259C>A (p.Pro753=)
c.2256C>A (p.Pro752=)
c.2316C>A (p.Pro772=)
c.2307C>A (p.Pro769=)
c.2226C>A (p.Pro742=)
c.2175C>A (p.Pro725=)
 gnomAD v4
14g.33800464C=CA2128327557NPAS3c.2157C= (p.Pro719=)
c.2166C= (p.Pro722=)
c.2057C=
c.793+2883C=
c.2061C= (p.Pro687=)
c.2118C= (p.Pro706=)
c.2067C= (p.Pro689=)
c.2172C= (p.Pro724=)
c.2079C= (p.Pro693=)
c.2178C= (p.Pro726=)
c.2208C= (p.Pro736=)
c.2199C= (p.Pro733=)
c.2169C= (p.Pro723=)
c.2112C= (p.Pro704=)
c.2058C= (p.Pro686=)
c.1851C= (p.Pro617=)
c.2265C= (p.Pro755=)
c.2259C= (p.Pro753=)
c.2256C= (p.Pro752=)
c.2316C= (p.Pro772=)
c.2307C= (p.Pro769=)
c.2226C= (p.Pro742=)
c.2175C= (p.Pro725=)
14g.33800464C>GCA7150960NPAS3c.2157C>G (p.Pro719=)
c.2166C>G (p.Pro722=)
c.2057C>G
c.793+2883C>G
c.2061C>G (p.Pro687=)
c.2118C>G (p.Pro706=)
c.2067C>G (p.Pro689=)
c.2172C>G (p.Pro724=)
c.2079C>G (p.Pro693=)
c.2178C>G (p.Pro726=)
c.2208C>G (p.Pro736=)
c.2199C>G (p.Pro733=)
c.2169C>G (p.Pro723=)
c.2112C>G (p.Pro704=)
c.2058C>G (p.Pro686=)
c.1851C>G (p.Pro617=)
c.2265C>G (p.Pro755=)
c.2259C>G (p.Pro753=)
c.2256C>G (p.Pro752=)
c.2316C>G (p.Pro772=)
c.2307C>G (p.Pro769=)
c.2226C>G (p.Pro742=)
c.2175C>G (p.Pro725=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800464C>TCA486093196NPAS3c.2157C>T (p.Pro719=)
c.2166C>T (p.Pro722=)
c.2057C>T
c.793+2883C>T
c.2061C>T (p.Pro687=)
c.2118C>T (p.Pro706=)
c.2067C>T (p.Pro689=)
c.2172C>T (p.Pro724=)
c.2079C>T (p.Pro693=)
c.2178C>T (p.Pro726=)
c.2208C>T (p.Pro736=)
c.2199C>T (p.Pro733=)
c.2169C>T (p.Pro723=)
c.2112C>T (p.Pro704=)
c.2058C>T (p.Pro686=)
c.1851C>T (p.Pro617=)
c.2265C>T (p.Pro755=)
c.2259C>T (p.Pro753=)
c.2256C>T (p.Pro752=)
c.2316C>T (p.Pro772=)
c.2307C>T (p.Pro769=)
c.2226C>T (p.Pro742=)
c.2175C>T (p.Pro725=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800465G>ACA389414101NPAS3c.2158G>A (p.Gly720Ser)
c.2167G>A (p.Gly723Ser)
c.2058G>A
c.793+2884G>A
c.2062G>A (p.Gly688Ser)
c.2119G>A (p.Gly707Ser)
c.2068G>A (p.Gly690Ser)
c.2173G>A (p.Gly725Ser)
c.2080G>A (p.Gly694Ser)
c.2179G>A (p.Gly727Ser)
c.2209G>A (p.Gly737Ser)
c.2200G>A (p.Gly734Ser)
c.2170G>A (p.Gly724Ser)
c.2113G>A (p.Gly705Ser)
c.2059G>A (p.Gly687Ser)
c.1852G>A (p.Gly618Ser)
c.2266G>A (p.Gly756Ser)
c.2260G>A (p.Gly754Ser)
c.2257G>A (p.Gly753Ser)
c.2317G>A (p.Gly773Ser)
c.2308G>A (p.Gly770Ser)
c.2227G>A (p.Gly743Ser)
c.2176G>A (p.Gly726Ser)
 dbSNP gnomAD v4
14g.33800465G>CCA389414102NPAS3c.2158G>C (p.Gly720Arg)
c.2167G>C (p.Gly723Arg)
c.2058G>C
c.793+2884G>C
c.2062G>C (p.Gly688Arg)
c.2119G>C (p.Gly707Arg)
c.2068G>C (p.Gly690Arg)
c.2173G>C (p.Gly725Arg)
c.2080G>C (p.Gly694Arg)
c.2179G>C (p.Gly727Arg)
c.2209G>C (p.Gly737Arg)
c.2200G>C (p.Gly734Arg)
c.2170G>C (p.Gly724Arg)
c.2113G>C (p.Gly705Arg)
c.2059G>C (p.Gly687Arg)
c.1852G>C (p.Gly618Arg)
c.2266G>C (p.Gly756Arg)
c.2260G>C (p.Gly754Arg)
c.2257G>C (p.Gly753Arg)
c.2317G>C (p.Gly773Arg)
c.2308G>C (p.Gly770Arg)
c.2227G>C (p.Gly743Arg)
c.2176G>C (p.Gly726Arg)
14g.33800465G=CA2128327560NPAS3c.2158G= (p.Gly720=)
c.2167G= (p.Gly723=)
c.2058G=
c.793+2884G=
c.2062G= (p.Gly688=)
c.2119G= (p.Gly707=)
c.2068G= (p.Gly690=)
c.2173G= (p.Gly725=)
c.2080G= (p.Gly694=)
c.2179G= (p.Gly727=)
c.2209G= (p.Gly737=)
c.2200G= (p.Gly734=)
c.2170G= (p.Gly724=)
c.2113G= (p.Gly705=)
c.2059G= (p.Gly687=)
c.1852G= (p.Gly618=)
c.2266G= (p.Gly756=)
c.2260G= (p.Gly754=)
c.2257G= (p.Gly753=)
c.2317G= (p.Gly773=)
c.2308G= (p.Gly770=)
c.2227G= (p.Gly743=)
c.2176G= (p.Gly726=)
14g.33800465G>TCA389414103NPAS3c.2158G>T (p.Gly720Cys)
c.2167G>T (p.Gly723Cys)
c.2058G>T
c.793+2884G>T
c.2062G>T (p.Gly688Cys)
c.2119G>T (p.Gly707Cys)
c.2068G>T (p.Gly690Cys)
c.2173G>T (p.Gly725Cys)
c.2080G>T (p.Gly694Cys)
c.2179G>T (p.Gly727Cys)
c.2209G>T (p.Gly737Cys)
c.2200G>T (p.Gly734Cys)
c.2170G>T (p.Gly724Cys)
c.2113G>T (p.Gly705Cys)
c.2059G>T (p.Gly687Cys)
c.1852G>T (p.Gly618Cys)
c.2266G>T (p.Gly756Cys)
c.2260G>T (p.Gly754Cys)
c.2257G>T (p.Gly753Cys)
c.2317G>T (p.Gly773Cys)
c.2308G>T (p.Gly770Cys)
c.2227G>T (p.Gly743Cys)
c.2176G>T (p.Gly726Cys)
14g.33800466G>ACA389414104NPAS3c.2159G>A (p.Gly720Asp)
c.2168G>A (p.Gly723Asp)
c.2059G>A
c.793+2885G>A
c.2063G>A (p.Gly688Asp)
c.2120G>A (p.Gly707Asp)
c.2069G>A (p.Gly690Asp)
c.2174G>A (p.Gly725Asp)
c.2081G>A (p.Gly694Asp)
c.2180G>A (p.Gly727Asp)
c.2210G>A (p.Gly737Asp)
c.2201G>A (p.Gly734Asp)
c.2171G>A (p.Gly724Asp)
c.2114G>A (p.Gly705Asp)
c.2060G>A (p.Gly687Asp)
c.1853G>A (p.Gly618Asp)
c.2267G>A (p.Gly756Asp)
c.2261G>A (p.Gly754Asp)
c.2258G>A (p.Gly753Asp)
c.2318G>A (p.Gly773Asp)
c.2309G>A (p.Gly770Asp)
c.2228G>A (p.Gly743Asp)
c.2177G>A (p.Gly726Asp)
 dbSNP gnomAD v4
14g.33800466G>CCA389414105NPAS3c.2159G>C (p.Gly720Ala)
c.2168G>C (p.Gly723Ala)
c.2059G>C
c.793+2885G>C
c.2063G>C (p.Gly688Ala)
c.2120G>C (p.Gly707Ala)
c.2069G>C (p.Gly690Ala)
c.2174G>C (p.Gly725Ala)
c.2081G>C (p.Gly694Ala)
c.2180G>C (p.Gly727Ala)
c.2210G>C (p.Gly737Ala)
c.2201G>C (p.Gly734Ala)
c.2171G>C (p.Gly724Ala)
c.2114G>C (p.Gly705Ala)
c.2060G>C (p.Gly687Ala)
c.1853G>C (p.Gly618Ala)
c.2267G>C (p.Gly756Ala)
c.2261G>C (p.Gly754Ala)
c.2258G>C (p.Gly753Ala)
c.2318G>C (p.Gly773Ala)
c.2309G>C (p.Gly770Ala)
c.2228G>C (p.Gly743Ala)
c.2177G>C (p.Gly726Ala)
14g.33800466G=CA2128327562NPAS3c.2159G= (p.Gly720=)
c.2168G= (p.Gly723=)
c.2059G=
c.793+2885G=
c.2063G= (p.Gly688=)
c.2120G= (p.Gly707=)
c.2069G= (p.Gly690=)
c.2174G= (p.Gly725=)
c.2081G= (p.Gly694=)
c.2180G= (p.Gly727=)
c.2210G= (p.Gly737=)
c.2201G= (p.Gly734=)
c.2171G= (p.Gly724=)
c.2114G= (p.Gly705=)
c.2060G= (p.Gly687=)
c.1853G= (p.Gly618=)
c.2267G= (p.Gly756=)
c.2261G= (p.Gly754=)
c.2258G= (p.Gly753=)
c.2318G= (p.Gly773=)
c.2309G= (p.Gly770=)
c.2228G= (p.Gly743=)
c.2177G= (p.Gly726=)
14g.33800466G>TCA389414106NPAS3c.2159G>T (p.Gly720Val)
c.2168G>T (p.Gly723Val)
c.2059G>T
c.793+2885G>T
c.2063G>T (p.Gly688Val)
c.2120G>T (p.Gly707Val)
c.2069G>T (p.Gly690Val)
c.2174G>T (p.Gly725Val)
c.2081G>T (p.Gly694Val)
c.2180G>T (p.Gly727Val)
c.2210G>T (p.Gly737Val)
c.2201G>T (p.Gly734Val)
c.2171G>T (p.Gly724Val)
c.2114G>T (p.Gly705Val)
c.2060G>T (p.Gly687Val)
c.1853G>T (p.Gly618Val)
c.2267G>T (p.Gly756Val)
c.2261G>T (p.Gly754Val)
c.2258G>T (p.Gly753Val)
c.2318G>T (p.Gly773Val)
c.2309G>T (p.Gly770Val)
c.2228G>T (p.Gly743Val)
c.2177G>T (p.Gly726Val)
14g.33800467C>ACA486093201NPAS3c.2160C>A (p.Gly720=)
c.2169C>A (p.Gly723=)
c.2060C>A
c.793+2886C>A
c.2064C>A (p.Gly688=)
c.2121C>A (p.Gly707=)
c.2070C>A (p.Gly690=)
c.2175C>A (p.Gly725=)
c.2082C>A (p.Gly694=)
c.2181C>A (p.Gly727=)
c.2211C>A (p.Gly737=)
c.2202C>A (p.Gly734=)
c.2172C>A (p.Gly724=)
c.2115C>A (p.Gly705=)
c.2061C>A (p.Gly687=)
c.1854C>A (p.Gly618=)
c.2268C>A (p.Gly756=)
c.2262C>A (p.Gly754=)
c.2259C>A (p.Gly753=)
c.2319C>A (p.Gly773=)
c.2310C>A (p.Gly770=)
c.2229C>A (p.Gly743=)
c.2178C>A (p.Gly726=)
 gnomAD v4
14g.33800467C=CA2128327563NPAS3c.2160C= (p.Gly720=)
c.2169C= (p.Gly723=)
c.2060C=
c.793+2886C=
c.2064C= (p.Gly688=)
c.2121C= (p.Gly707=)
c.2070C= (p.Gly690=)
c.2175C= (p.Gly725=)
c.2082C= (p.Gly694=)
c.2181C= (p.Gly727=)
c.2211C= (p.Gly737=)
c.2202C= (p.Gly734=)
c.2172C= (p.Gly724=)
c.2115C= (p.Gly705=)
c.2061C= (p.Gly687=)
c.1854C= (p.Gly618=)
c.2268C= (p.Gly756=)
c.2262C= (p.Gly754=)
c.2259C= (p.Gly753=)
c.2319C= (p.Gly773=)
c.2310C= (p.Gly770=)
c.2229C= (p.Gly743=)
c.2178C= (p.Gly726=)
14g.33800467C>GCA486093202NPAS3c.2160C>G (p.Gly720=)
c.2169C>G (p.Gly723=)
c.2060C>G
c.793+2886C>G
c.2064C>G (p.Gly688=)
c.2121C>G (p.Gly707=)
c.2070C>G (p.Gly690=)
c.2175C>G (p.Gly725=)
c.2082C>G (p.Gly694=)
c.2181C>G (p.Gly727=)
c.2211C>G (p.Gly737=)
c.2202C>G (p.Gly734=)
c.2172C>G (p.Gly724=)
c.2115C>G (p.Gly705=)
c.2061C>G (p.Gly687=)
c.1854C>G (p.Gly618=)
c.2268C>G (p.Gly756=)
c.2262C>G (p.Gly754=)
c.2259C>G (p.Gly753=)
c.2319C>G (p.Gly773=)
c.2310C>G (p.Gly770=)
c.2229C>G (p.Gly743=)
c.2178C>G (p.Gly726=)
14g.33800467C>TCA7150961NPAS3c.2160C>T (p.Gly720=)
c.2169C>T (p.Gly723=)
c.2060C>T
c.793+2886C>T
c.2064C>T (p.Gly688=)
c.2121C>T (p.Gly707=)
c.2070C>T (p.Gly690=)
c.2175C>T (p.Gly725=)
c.2082C>T (p.Gly694=)
c.2181C>T (p.Gly727=)
c.2211C>T (p.Gly737=)
c.2202C>T (p.Gly734=)
c.2172C>T (p.Gly724=)
c.2115C>T (p.Gly705=)
c.2061C>T (p.Gly687=)
c.1854C>T (p.Gly618=)
c.2268C>T (p.Gly756=)
c.2262C>T (p.Gly754=)
c.2259C>T (p.Gly753=)
c.2319C>T (p.Gly773=)
c.2310C>T (p.Gly770=)
c.2229C>T (p.Gly743=)
c.2178C>T (p.Gly726=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.33800468G>ACA389414108NPAS3c.2161G>A (p.Ala721Thr)
c.2170G>A (p.Ala724Thr)
c.2061G>A
c.793+2887G>A
c.2065G>A (p.Ala689Thr)
c.2122G>A (p.Ala708Thr)
c.2071G>A (p.Ala691Thr)
c.2176G>A (p.Ala726Thr)
c.2083G>A (p.Ala695Thr)
c.2182G>A (p.Ala728Thr)
c.2212G>A (p.Ala738Thr)
c.2203G>A (p.Ala735Thr)
c.2173G>A (p.Ala725Thr)
c.2116G>A (p.Ala706Thr)
c.2062G>A (p.Ala688Thr)
c.1855G>A (p.Ala619Thr)
c.2269G>A (p.Ala757Thr)
c.2263G>A (p.Ala755Thr)
c.2260G>A (p.Ala754Thr)
c.2320G>A (p.Ala774Thr)
c.2311G>A (p.Ala771Thr)
c.2230G>A (p.Ala744Thr)
c.2179G>A (p.Ala727Thr)
 dbSNP gnomAD v2 gnomAD v4
14g.33800468G>CCA389414109NPAS3c.2161G>C (p.Ala721Pro)
c.2170G>C (p.Ala724Pro)
c.2061G>C
c.793+2887G>C
c.2065G>C (p.Ala689Pro)
c.2122G>C (p.Ala708Pro)
c.2071G>C (p.Ala691Pro)
c.2176G>C (p.Ala726Pro)
c.2083G>C (p.Ala695Pro)
c.2182G>C (p.Ala728Pro)
c.2212G>C (p.Ala738Pro)
c.2203G>C (p.Ala735Pro)
c.2173G>C (p.Ala725Pro)
c.2116G>C (p.Ala706Pro)
c.2062G>C (p.Ala688Pro)
c.1855G>C (p.Ala619Pro)
c.2269G>C (p.Ala757Pro)
c.2263G>C (p.Ala755Pro)
c.2260G>C (p.Ala754Pro)
c.2320G>C (p.Ala774Pro)
c.2311G>C (p.Ala771Pro)
c.2230G>C (p.Ala744Pro)
c.2179G>C (p.Ala727Pro)
14g.33800468G=CA2128327565NPAS3c.2161G= (p.Ala721=)
c.2170G= (p.Ala724=)
c.2061G=
c.793+2887G=
c.2065G= (p.Ala689=)
c.2122G= (p.Ala708=)
c.2071G= (p.Ala691=)
c.2176G= (p.Ala726=)
c.2083G= (p.Ala695=)
c.2182G= (p.Ala728=)
c.2212G= (p.Ala738=)
c.2203G= (p.Ala735=)
c.2173G= (p.Ala725=)
c.2116G= (p.Ala706=)
c.2062G= (p.Ala688=)
c.1855G= (p.Ala619=)
c.2269G= (p.Ala757=)
c.2263G= (p.Ala755=)
c.2260G= (p.Ala754=)
c.2320G= (p.Ala774=)
c.2311G= (p.Ala771=)
c.2230G= (p.Ala744=)
c.2179G= (p.Ala727=)
14g.33800468G>TCA389414107NPAS3c.2161G>T (p.Ala721Ser)
c.2170G>T (p.Ala724Ser)
c.2061G>T
c.793+2887G>T
c.2065G>T (p.Ala689Ser)
c.2122G>T (p.Ala708Ser)
c.2071G>T (p.Ala691Ser)
c.2176G>T (p.Ala726Ser)
c.2083G>T (p.Ala695Ser)
c.2182G>T (p.Ala728Ser)
c.2212G>T (p.Ala738Ser)
c.2203G>T (p.Ala735Ser)
c.2173G>T (p.Ala725Ser)
c.2116G>T (p.Ala706Ser)
c.2062G>T (p.Ala688Ser)
c.1855G>T (p.Ala619Ser)
c.2269G>T (p.Ala757Ser)
c.2263G>T (p.Ala755Ser)
c.2260G>T (p.Ala754Ser)
c.2320G>T (p.Ala774Ser)
c.2311G>T (p.Ala771Ser)
c.2230G>T (p.Ala744Ser)
c.2179G>T (p.Ala727Ser)
 gnomAD v4
14g.33800469C>ACA389414110NPAS3c.2162C>A (p.Ala721Asp)
c.2171C>A (p.Ala724Asp)
c.2062C>A
c.793+2888C>A
c.2066C>A (p.Ala689Asp)
c.2123C>A (p.Ala708Asp)
c.2072C>A (p.Ala691Asp)
c.2177C>A (p.Ala726Asp)
c.2084C>A (p.Ala695Asp)
c.2183C>A (p.Ala728Asp)
c.2213C>A (p.Ala738Asp)
c.2204C>A (p.Ala735Asp)
c.2174C>A (p.Ala725Asp)
c.2117C>A (p.Ala706Asp)
c.2063C>A (p.Ala688Asp)
c.1856C>A (p.Ala619Asp)
c.2270C>A (p.Ala757Asp)
c.2264C>A (p.Ala755Asp)
c.2261C>A (p.Ala754Asp)
c.2321C>A (p.Ala774Asp)
c.2312C>A (p.Ala771Asp)
c.2231C>A (p.Ala744Asp)
c.2180C>A (p.Ala727Asp)
14g.33800469C>GCA389414111NPAS3c.2162C>G (p.Ala721Gly)
c.2171C>G (p.Ala724Gly)
c.2062C>G
c.793+2888C>G
c.2066C>G (p.Ala689Gly)
c.2123C>G (p.Ala708Gly)
c.2072C>G (p.Ala691Gly)
c.2177C>G (p.Ala726Gly)
c.2084C>G (p.Ala695Gly)
c.2183C>G (p.Ala728Gly)
c.2213C>G (p.Ala738Gly)
c.2204C>G (p.Ala735Gly)
c.2174C>G (p.Ala725Gly)
c.2117C>G (p.Ala706Gly)
c.2063C>G (p.Ala688Gly)
c.1856C>G (p.Ala619Gly)
c.2270C>G (p.Ala757Gly)
c.2264C>G (p.Ala755Gly)
c.2261C>G (p.Ala754Gly)
c.2321C>G (p.Ala774Gly)
c.2312C>G (p.Ala771Gly)
c.2231C>G (p.Ala744Gly)
c.2180C>G (p.Ala727Gly)
14g.33800469C>TCA389414112NPAS3c.2162C>T (p.Ala721Val)
c.2171C>T (p.Ala724Val)
c.2062C>T
c.793+2888C>T
c.2066C>T (p.Ala689Val)
c.2123C>T (p.Ala708Val)
c.2072C>T (p.Ala691Val)
c.2177C>T (p.Ala726Val)
c.2084C>T (p.Ala695Val)
c.2183C>T (p.Ala728Val)
c.2213C>T (p.Ala738Val)
c.2204C>T (p.Ala735Val)
c.2174C>T (p.Ala725Val)
c.2117C>T (p.Ala706Val)
c.2063C>T (p.Ala688Val)
c.1856C>T (p.Ala619Val)
c.2270C>T (p.Ala757Val)
c.2264C>T (p.Ala755Val)
c.2261C>T (p.Ala754Val)
c.2321C>T (p.Ala774Val)
c.2312C>T (p.Ala771Val)
c.2231C>T (p.Ala744Val)
c.2180C>T (p.Ala727Val)
 gnomAD v4
14g.33800470C>ACA486093205NPAS3c.2163C>A (p.Ala721=)
c.2172C>A (p.Ala724=)
c.2063C>A
c.793+2889C>A
c.2067C>A (p.Ala689=)
c.2124C>A (p.Ala708=)
c.2073C>A (p.Ala691=)
c.2178C>A (p.Ala726=)
c.2085C>A (p.Ala695=)
c.2184C>A (p.Ala728=)
c.2214C>A (p.Ala738=)
c.2205C>A (p.Ala735=)
c.2175C>A (p.Ala725=)
c.2118C>A (p.Ala706=)
c.2064C>A (p.Ala688=)
c.1857C>A (p.Ala619=)
c.2271C>A (p.Ala757=)
c.2265C>A (p.Ala755=)
c.2262C>A (p.Ala754=)
c.2322C>A (p.Ala774=)
c.2313C>A (p.Ala771=)
c.2232C>A (p.Ala744=)
c.2181C>A (p.Ala727=)
 dbSNP
14g.33800470C=CA2128327567NPAS3c.2163C= (p.Ala721=)
c.2172C= (p.Ala724=)
c.2063C=
c.793+2889C=
c.2067C= (p.Ala689=)
c.2124C= (p.Ala708=)
c.2073C= (p.Ala691=)
c.2178C= (p.Ala726=)
c.2085C= (p.Ala695=)
c.2184C= (p.Ala728=)
c.2214C= (p.Ala738=)
c.2205C= (p.Ala735=)
c.2175C= (p.Ala725=)
c.2118C= (p.Ala706=)
c.2064C= (p.Ala688=)
c.1857C= (p.Ala619=)
c.2271C= (p.Ala757=)
c.2265C= (p.Ala755=)
c.2262C= (p.Ala754=)
c.2322C= (p.Ala774=)
c.2313C= (p.Ala771=)
c.2232C= (p.Ala744=)
c.2181C= (p.Ala727=)
14g.33800470C>GCA486093206NPAS3c.2163C>G (p.Ala721=)
c.2172C>G (p.Ala724=)
c.2063C>G
c.793+2889C>G
c.2067C>G (p.Ala689=)
c.2124C>G (p.Ala708=)
c.2073C>G (p.Ala691=)
c.2178C>G (p.Ala726=)
c.2085C>G (p.Ala695=)
c.2184C>G (p.Ala728=)
c.2214C>G (p.Ala738=)
c.2205C>G (p.Ala735=)
c.2175C>G (p.Ala725=)
c.2118C>G (p.Ala706=)
c.2064C>G (p.Ala688=)
c.1857C>G (p.Ala619=)
c.2271C>G (p.Ala757=)
c.2265C>G (p.Ala755=)
c.2262C>G (p.Ala754=)
c.2322C>G (p.Ala774=)
c.2313C>G (p.Ala771=)
c.2232C>G (p.Ala744=)
c.2181C>G (p.Ala727=)
14g.33800470C>TCA486093207NPAS3c.2163C>T (p.Ala721=)
c.2172C>T (p.Ala724=)
c.2063C>T
c.793+2889C>T
c.2067C>T (p.Ala689=)
c.2124C>T (p.Ala708=)
c.2073C>T (p.Ala691=)
c.2178C>T (p.Ala726=)
c.2085C>T (p.Ala695=)
c.2184C>T (p.Ala728=)
c.2214C>T (p.Ala738=)
c.2205C>T (p.Ala735=)
c.2175C>T (p.Ala725=)
c.2118C>T (p.Ala706=)
c.2064C>T (p.Ala688=)
c.1857C>T (p.Ala619=)
c.2271C>T (p.Ala757=)
c.2265C>T (p.Ala755=)
c.2262C>T (p.Ala754=)
c.2322C>T (p.Ala774=)
c.2313C>T (p.Ala771=)
c.2232C>T (p.Ala744=)
c.2181C>T (p.Ala727=)
 dbSNP gnomAD v3 gnomAD v4
14g.33800471G>ACA389414113NPAS3c.2164G>A (p.Asp722Asn)
c.2173G>A (p.Asp725Asn)
c.2064G>A
c.793+2890G>A
c.2068G>A (p.Asp690Asn)
c.2125G>A (p.Asp709Asn)
c.2074G>A (p.Asp692Asn)
c.2179G>A (p.Asp727Asn)
c.2086G>A (p.Asp696Asn)
c.2185G>A (p.Asp729Asn)
c.2215G>A (p.Asp739Asn)
c.2206G>A (p.Asp736Asn)
c.2176G>A (p.Asp726Asn)
c.2119G>A (p.Asp707Asn)
c.2065G>A (p.Asp689Asn)
c.1858G>A (p.Asp620Asn)
c.2272G>A (p.Asp758Asn)
c.2266G>A (p.Asp756Asn)
c.2263G>A (p.Asp755Asn)
c.2323G>A (p.Asp775Asn)
c.2314G>A (p.Asp772Asn)
c.2233G>A (p.Asp745Asn)
c.2182G>A (p.Asp728Asn)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800471G>CCA389414114NPAS3c.2164G>C (p.Asp722His)
c.2173G>C (p.Asp725His)
c.2064G>C
c.793+2890G>C
c.2068G>C (p.Asp690His)
c.2125G>C (p.Asp709His)
c.2074G>C (p.Asp692His)
c.2179G>C (p.Asp727His)
c.2086G>C (p.Asp696His)
c.2185G>C (p.Asp729His)
c.2215G>C (p.Asp739His)
c.2206G>C (p.Asp736His)
c.2176G>C (p.Asp726His)
c.2119G>C (p.Asp707His)
c.2065G>C (p.Asp689His)
c.1858G>C (p.Asp620His)
c.2272G>C (p.Asp758His)
c.2266G>C (p.Asp756His)
c.2263G>C (p.Asp755His)
c.2323G>C (p.Asp775His)
c.2314G>C (p.Asp772His)
c.2233G>C (p.Asp745His)
c.2182G>C (p.Asp728His)
14g.33800471G=CA2128327571NPAS3c.2164G= (p.Asp722=)
c.2173G= (p.Asp725=)
c.2064G=
c.793+2890G=
c.2068G= (p.Asp690=)
c.2125G= (p.Asp709=)
c.2074G= (p.Asp692=)
c.2179G= (p.Asp727=)
c.2086G= (p.Asp696=)
c.2185G= (p.Asp729=)
c.2215G= (p.Asp739=)
c.2206G= (p.Asp736=)
c.2176G= (p.Asp726=)
c.2119G= (p.Asp707=)
c.2065G= (p.Asp689=)
c.1858G= (p.Asp620=)
c.2272G= (p.Asp758=)
c.2266G= (p.Asp756=)
c.2263G= (p.Asp755=)
c.2323G= (p.Asp775=)
c.2314G= (p.Asp772=)
c.2233G= (p.Asp745=)
c.2182G= (p.Asp728=)
14g.33800471G>TCA389414115NPAS3c.2164G>T (p.Asp722Tyr)
c.2173G>T (p.Asp725Tyr)
c.2064G>T
c.793+2890G>T
c.2068G>T (p.Asp690Tyr)
c.2125G>T (p.Asp709Tyr)
c.2074G>T (p.Asp692Tyr)
c.2179G>T (p.Asp727Tyr)
c.2086G>T (p.Asp696Tyr)
c.2185G>T (p.Asp729Tyr)
c.2215G>T (p.Asp739Tyr)
c.2206G>T (p.Asp736Tyr)
c.2176G>T (p.Asp726Tyr)
c.2119G>T (p.Asp707Tyr)
c.2065G>T (p.Asp689Tyr)
c.1858G>T (p.Asp620Tyr)
c.2272G>T (p.Asp758Tyr)
c.2266G>T (p.Asp756Tyr)
c.2263G>T (p.Asp755Tyr)
c.2323G>T (p.Asp775Tyr)
c.2314G>T (p.Asp772Tyr)
c.2233G>T (p.Asp745Tyr)
c.2182G>T (p.Asp728Tyr)
14g.33800472A=CA2128327573NPAS3c.2165A= (p.Asp722=)
c.2174A= (p.Asp725=)
c.2065A=
c.793+2891A=
c.2069A= (p.Asp690=)
c.2126A= (p.Asp709=)
c.2075A= (p.Asp692=)
c.2180A= (p.Asp727=)
c.2087A= (p.Asp696=)
c.2186A= (p.Asp729=)
c.2216A= (p.Asp739=)
c.2207A= (p.Asp736=)
c.2177A= (p.Asp726=)
c.2120A= (p.Asp707=)
c.2066A= (p.Asp689=)
c.1859A= (p.Asp620=)
c.2273A= (p.Asp758=)
c.2267A= (p.Asp756=)
c.2264A= (p.Asp755=)
c.2324A= (p.Asp775=)
c.2315A= (p.Asp772=)
c.2234A= (p.Asp745=)
c.2183A= (p.Asp728=)
14g.33800472A>CCA389414116NPAS3c.2165A>C (p.Asp722Ala)
c.2174A>C (p.Asp725Ala)
c.2065A>C
c.793+2891A>C
c.2069A>C (p.Asp690Ala)
c.2126A>C (p.Asp709Ala)
c.2075A>C (p.Asp692Ala)
c.2180A>C (p.Asp727Ala)
c.2087A>C (p.Asp696Ala)
c.2186A>C (p.Asp729Ala)
c.2216A>C (p.Asp739Ala)
c.2207A>C (p.Asp736Ala)
c.2177A>C (p.Asp726Ala)
c.2120A>C (p.Asp707Ala)
c.2066A>C (p.Asp689Ala)
c.1859A>C (p.Asp620Ala)
c.2273A>C (p.Asp758Ala)
c.2267A>C (p.Asp756Ala)
c.2264A>C (p.Asp755Ala)
c.2324A>C (p.Asp775Ala)
c.2315A>C (p.Asp772Ala)
c.2234A>C (p.Asp745Ala)
c.2183A>C (p.Asp728Ala)
14g.33800472A>GCA7150962NPAS3c.2165A>G (p.Asp722Gly)
c.2174A>G (p.Asp725Gly)
c.2065A>G
c.793+2891A>G
c.2069A>G (p.Asp690Gly)
c.2126A>G (p.Asp709Gly)
c.2075A>G (p.Asp692Gly)
c.2180A>G (p.Asp727Gly)
c.2087A>G (p.Asp696Gly)
c.2186A>G (p.Asp729Gly)
c.2216A>G (p.Asp739Gly)
c.2207A>G (p.Asp736Gly)
c.2177A>G (p.Asp726Gly)
c.2120A>G (p.Asp707Gly)
c.2066A>G (p.Asp689Gly)
c.1859A>G (p.Asp620Gly)
c.2273A>G (p.Asp758Gly)
c.2267A>G (p.Asp756Gly)
c.2264A>G (p.Asp755Gly)
c.2324A>G (p.Asp775Gly)
c.2315A>G (p.Asp772Gly)
c.2234A>G (p.Asp745Gly)
c.2183A>G (p.Asp728Gly)
 dbSNP ExAC gnomAD v4
14g.33800472A>TCA389414117NPAS3c.2165A>T (p.Asp722Val)
c.2174A>T (p.Asp725Val)
c.2065A>T
c.793+2891A>T
c.2069A>T (p.Asp690Val)
c.2126A>T (p.Asp709Val)
c.2075A>T (p.Asp692Val)
c.2180A>T (p.Asp727Val)
c.2087A>T (p.Asp696Val)
c.2186A>T (p.Asp729Val)
c.2216A>T (p.Asp739Val)
c.2207A>T (p.Asp736Val)
c.2177A>T (p.Asp726Val)
c.2120A>T (p.Asp707Val)
c.2066A>T (p.Asp689Val)
c.1859A>T (p.Asp620Val)
c.2273A>T (p.Asp758Val)
c.2267A>T (p.Asp756Val)
c.2264A>T (p.Asp755Val)
c.2324A>T (p.Asp775Val)
c.2315A>T (p.Asp772Val)
c.2234A>T (p.Asp745Val)
c.2183A>T (p.Asp728Val)
 COSMIC COSMIC COSMIC
14g.33800473C>ACA389414118NPAS3c.2166C>A (p.Asp722Glu)
c.2175C>A (p.Asp725Glu)
c.2066C>A
c.793+2892C>A
c.2070C>A (p.Asp690Glu)
c.2127C>A (p.Asp709Glu)
c.2076C>A (p.Asp692Glu)
c.2181C>A (p.Asp727Glu)
c.2088C>A (p.Asp696Glu)
c.2187C>A (p.Asp729Glu)
c.2217C>A (p.Asp739Glu)
c.2208C>A (p.Asp736Glu)
c.2178C>A (p.Asp726Glu)
c.2121C>A (p.Asp707Glu)
c.2067C>A (p.Asp689Glu)
c.1860C>A (p.Asp620Glu)
c.2274C>A (p.Asp758Glu)
c.2268C>A (p.Asp756Glu)
c.2265C>A (p.Asp755Glu)
c.2325C>A (p.Asp775Glu)
c.2316C>A (p.Asp772Glu)
c.2235C>A (p.Asp745Glu)
c.2184C>A (p.Asp728Glu)
 gnomAD v4
14g.33800473C=CA2128327576NPAS3c.2166C= (p.Asp722=)
c.2175C= (p.Asp725=)
c.2066C=
c.793+2892C=
c.2070C= (p.Asp690=)
c.2127C= (p.Asp709=)
c.2076C= (p.Asp692=)
c.2181C= (p.Asp727=)
c.2088C= (p.Asp696=)
c.2187C= (p.Asp729=)
c.2217C= (p.Asp739=)
c.2208C= (p.Asp736=)
c.2178C= (p.Asp726=)
c.2121C= (p.Asp707=)
c.2067C= (p.Asp689=)
c.1860C= (p.Asp620=)
c.2274C= (p.Asp758=)
c.2268C= (p.Asp756=)
c.2265C= (p.Asp755=)
c.2325C= (p.Asp775=)
c.2316C= (p.Asp772=)
c.2235C= (p.Asp745=)
c.2184C= (p.Asp728=)
14g.33800473C>GCA389414119NPAS3c.2166C>G (p.Asp722Glu)
c.2175C>G (p.Asp725Glu)
c.2066C>G
c.793+2892C>G
c.2070C>G (p.Asp690Glu)
c.2127C>G (p.Asp709Glu)
c.2076C>G (p.Asp692Glu)
c.2181C>G (p.Asp727Glu)
c.2088C>G (p.Asp696Glu)
c.2187C>G (p.Asp729Glu)
c.2217C>G (p.Asp739Glu)
c.2208C>G (p.Asp736Glu)
c.2178C>G (p.Asp726Glu)
c.2121C>G (p.Asp707Glu)
c.2067C>G (p.Asp689Glu)
c.1860C>G (p.Asp620Glu)
c.2274C>G (p.Asp758Glu)
c.2268C>G (p.Asp756Glu)
c.2265C>G (p.Asp755Glu)
c.2325C>G (p.Asp775Glu)
c.2316C>G (p.Asp772Glu)
c.2235C>G (p.Asp745Glu)
c.2184C>G (p.Asp728Glu)
14g.33800473C>TCA486093214NPAS3c.2166C>T (p.Asp722=)
c.2175C>T (p.Asp725=)
c.2066C>T
c.793+2892C>T
c.2070C>T (p.Asp690=)
c.2127C>T (p.Asp709=)
c.2076C>T (p.Asp692=)
c.2181C>T (p.Asp727=)
c.2088C>T (p.Asp696=)
c.2187C>T (p.Asp729=)
c.2217C>T (p.Asp739=)
c.2208C>T (p.Asp736=)
c.2178C>T (p.Asp726=)
c.2121C>T (p.Asp707=)
c.2067C>T (p.Asp689=)
c.1860C>T (p.Asp620=)
c.2274C>T (p.Asp758=)
c.2268C>T (p.Asp756=)
c.2265C>T (p.Asp755=)
c.2325C>T (p.Asp775=)
c.2316C>T (p.Asp772=)
c.2235C>T (p.Asp745=)
c.2184C>T (p.Asp728=)
 dbSNP gnomAD v4
14g.33800474G>ACA258719206NPAS3c.2167G>A (p.Gly723Ser)
c.2176G>A (p.Gly726Ser)
c.2067G>A
c.793+2893G>A
c.2071G>A (p.Gly691Ser)
c.2128G>A (p.Gly710Ser)
c.2077G>A (p.Gly693Ser)
c.2182G>A (p.Gly728Ser)
c.2089G>A (p.Gly697Ser)
c.2188G>A (p.Gly730Ser)
c.2218G>A (p.Gly740Ser)
c.2209G>A (p.Gly737Ser)
c.2179G>A (p.Gly727Ser)
c.2122G>A (p.Gly708Ser)
c.2068G>A (p.Gly690Ser)
c.1861G>A (p.Gly621Ser)
c.2275G>A (p.Gly759Ser)
c.2269G>A (p.Gly757Ser)
c.2266G>A (p.Gly756Ser)
c.2326G>A (p.Gly776Ser)
c.2317G>A (p.Gly773Ser)
c.2236G>A (p.Gly746Ser)
c.2185G>A (p.Gly729Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800474G>CCA389414120NPAS3c.2167G>C (p.Gly723Arg)
c.2176G>C (p.Gly726Arg)
c.2067G>C
c.793+2893G>C
c.2071G>C (p.Gly691Arg)
c.2128G>C (p.Gly710Arg)
c.2077G>C (p.Gly693Arg)
c.2182G>C (p.Gly728Arg)
c.2089G>C (p.Gly697Arg)
c.2188G>C (p.Gly730Arg)
c.2218G>C (p.Gly740Arg)
c.2209G>C (p.Gly737Arg)
c.2179G>C (p.Gly727Arg)
c.2122G>C (p.Gly708Arg)
c.2068G>C (p.Gly690Arg)
c.1861G>C (p.Gly621Arg)
c.2275G>C (p.Gly759Arg)
c.2269G>C (p.Gly757Arg)
c.2266G>C (p.Gly756Arg)
c.2326G>C (p.Gly776Arg)
c.2317G>C (p.Gly773Arg)
c.2236G>C (p.Gly746Arg)
c.2185G>C (p.Gly729Arg)
14g.33800474G=CA2128327581NPAS3c.2167G= (p.Gly723=)
c.2176G= (p.Gly726=)
c.2067G=
c.793+2893G=
c.2071G= (p.Gly691=)
c.2128G= (p.Gly710=)
c.2077G= (p.Gly693=)
c.2182G= (p.Gly728=)
c.2089G= (p.Gly697=)
c.2188G= (p.Gly730=)
c.2218G= (p.Gly740=)
c.2209G= (p.Gly737=)
c.2179G= (p.Gly727=)
c.2122G= (p.Gly708=)
c.2068G= (p.Gly690=)
c.1861G= (p.Gly621=)
c.2275G= (p.Gly759=)
c.2269G= (p.Gly757=)
c.2266G= (p.Gly756=)
c.2326G= (p.Gly776=)
c.2317G= (p.Gly773=)
c.2236G= (p.Gly746=)
c.2185G= (p.Gly729=)
14g.33800474G>TCA389414121NPAS3c.2167G>T (p.Gly723Cys)
c.2176G>T (p.Gly726Cys)
c.2067G>T
c.793+2893G>T
c.2071G>T (p.Gly691Cys)
c.2128G>T (p.Gly710Cys)
c.2077G>T (p.Gly693Cys)
c.2182G>T (p.Gly728Cys)
c.2089G>T (p.Gly697Cys)
c.2188G>T (p.Gly730Cys)
c.2218G>T (p.Gly740Cys)
c.2209G>T (p.Gly737Cys)
c.2179G>T (p.Gly727Cys)
c.2122G>T (p.Gly708Cys)
c.2068G>T (p.Gly690Cys)
c.1861G>T (p.Gly621Cys)
c.2275G>T (p.Gly759Cys)
c.2269G>T (p.Gly757Cys)
c.2266G>T (p.Gly756Cys)
c.2326G>T (p.Gly776Cys)
c.2317G>T (p.Gly773Cys)
c.2236G>T (p.Gly746Cys)
c.2185G>T (p.Gly729Cys)
14g.33800475G>ACA389414123NPAS3c.2168G>A (p.Gly723Asp)
c.2177G>A (p.Gly726Asp)
c.2068G>A
c.793+2894G>A
c.2072G>A (p.Gly691Asp)
c.2129G>A (p.Gly710Asp)
c.2078G>A (p.Gly693Asp)
c.2183G>A (p.Gly728Asp)
c.2090G>A (p.Gly697Asp)
c.2189G>A (p.Gly730Asp)
c.2219G>A (p.Gly740Asp)
c.2210G>A (p.Gly737Asp)
c.2180G>A (p.Gly727Asp)
c.2123G>A (p.Gly708Asp)
c.2069G>A (p.Gly690Asp)
c.1862G>A (p.Gly621Asp)
c.2276G>A (p.Gly759Asp)
c.2270G>A (p.Gly757Asp)
c.2267G>A (p.Gly756Asp)
c.2327G>A (p.Gly776Asp)
c.2318G>A (p.Gly773Asp)
c.2237G>A (p.Gly746Asp)
c.2186G>A (p.Gly729Asp)
 gnomAD v4
14g.33800475G>CCA389414124NPAS3c.2168G>C (p.Gly723Ala)
c.2177G>C (p.Gly726Ala)
c.2068G>C
c.793+2894G>C
c.2072G>C (p.Gly691Ala)
c.2129G>C (p.Gly710Ala)
c.2078G>C (p.Gly693Ala)
c.2183G>C (p.Gly728Ala)
c.2090G>C (p.Gly697Ala)
c.2189G>C (p.Gly730Ala)
c.2219G>C (p.Gly740Ala)
c.2210G>C (p.Gly737Ala)
c.2180G>C (p.Gly727Ala)
c.2123G>C (p.Gly708Ala)
c.2069G>C (p.Gly690Ala)
c.1862G>C (p.Gly621Ala)
c.2276G>C (p.Gly759Ala)
c.2270G>C (p.Gly757Ala)
c.2267G>C (p.Gly756Ala)
c.2327G>C (p.Gly776Ala)
c.2318G>C (p.Gly773Ala)
c.2237G>C (p.Gly746Ala)
c.2186G>C (p.Gly729Ala)
14g.33800475G=CA2128327584NPAS3c.2168G= (p.Gly723=)
c.2177G= (p.Gly726=)
c.2068G=
c.793+2894G=
c.2072G= (p.Gly691=)
c.2129G= (p.Gly710=)
c.2078G= (p.Gly693=)
c.2183G= (p.Gly728=)
c.2090G= (p.Gly697=)
c.2189G= (p.Gly730=)
c.2219G= (p.Gly740=)
c.2210G= (p.Gly737=)
c.2180G= (p.Gly727=)
c.2123G= (p.Gly708=)
c.2069G= (p.Gly690=)
c.1862G= (p.Gly621=)
c.2276G= (p.Gly759=)
c.2270G= (p.Gly757=)
c.2267G= (p.Gly756=)
c.2327G= (p.Gly776=)
c.2318G= (p.Gly773=)
c.2237G= (p.Gly746=)
c.2186G= (p.Gly729=)
14g.33800475G>TCA389414122NPAS3c.2168G>T (p.Gly723Val)
c.2177G>T (p.Gly726Val)
c.2068G>T
c.793+2894G>T
c.2072G>T (p.Gly691Val)
c.2129G>T (p.Gly710Val)
c.2078G>T (p.Gly693Val)
c.2183G>T (p.Gly728Val)
c.2090G>T (p.Gly697Val)
c.2189G>T (p.Gly730Val)
c.2219G>T (p.Gly740Val)
c.2210G>T (p.Gly737Val)
c.2180G>T (p.Gly727Val)
c.2123G>T (p.Gly708Val)
c.2069G>T (p.Gly690Val)
c.1862G>T (p.Gly621Val)
c.2276G>T (p.Gly759Val)
c.2270G>T (p.Gly757Val)
c.2267G>T (p.Gly756Val)
c.2327G>T (p.Gly776Val)
c.2318G>T (p.Gly773Val)
c.2237G>T (p.Gly746Val)
c.2186G>T (p.Gly729Val)
 gnomAD v4
14g.33800476C>ACA486093221NPAS3c.2169C>A (p.Gly723=)
c.2178C>A (p.Gly726=)
c.2069C>A
c.793+2895C>A
c.2073C>A (p.Gly691=)
c.2130C>A (p.Gly710=)
c.2079C>A (p.Gly693=)
c.2184C>A (p.Gly728=)
c.2091C>A (p.Gly697=)
c.2190C>A (p.Gly730=)
c.2220C>A (p.Gly740=)
c.2211C>A (p.Gly737=)
c.2181C>A (p.Gly727=)
c.2124C>A (p.Gly708=)
c.2070C>A (p.Gly690=)
c.1863C>A (p.Gly621=)
c.2277C>A (p.Gly759=)
c.2271C>A (p.Gly757=)
c.2268C>A (p.Gly756=)
c.2328C>A (p.Gly776=)
c.2319C>A (p.Gly773=)
c.2238C>A (p.Gly746=)
c.2187C>A (p.Gly729=)
 gnomAD v4
14g.33800476C=CA2128327587NPAS3c.2169C= (p.Gly723=)
c.2178C= (p.Gly726=)
c.2069C=
c.793+2895C=
c.2073C= (p.Gly691=)
c.2130C= (p.Gly710=)
c.2079C= (p.Gly693=)
c.2184C= (p.Gly728=)
c.2091C= (p.Gly697=)
c.2190C= (p.Gly730=)
c.2220C= (p.Gly740=)
c.2211C= (p.Gly737=)
c.2181C= (p.Gly727=)
c.2124C= (p.Gly708=)
c.2070C= (p.Gly690=)
c.1863C= (p.Gly621=)
c.2277C= (p.Gly759=)
c.2271C= (p.Gly757=)
c.2268C= (p.Gly756=)
c.2328C= (p.Gly776=)
c.2319C= (p.Gly773=)
c.2238C= (p.Gly746=)
c.2187C= (p.Gly729=)
14g.33800476C>GCA486093219NPAS3c.2169C>G (p.Gly723=)
c.2178C>G (p.Gly726=)
c.2069C>G
c.793+2895C>G
c.2073C>G (p.Gly691=)
c.2130C>G (p.Gly710=)
c.2079C>G (p.Gly693=)
c.2184C>G (p.Gly728=)
c.2091C>G (p.Gly697=)
c.2190C>G (p.Gly730=)
c.2220C>G (p.Gly740=)
c.2211C>G (p.Gly737=)
c.2181C>G (p.Gly727=)
c.2124C>G (p.Gly708=)
c.2070C>G (p.Gly690=)
c.1863C>G (p.Gly621=)
c.2277C>G (p.Gly759=)
c.2271C>G (p.Gly757=)
c.2268C>G (p.Gly756=)
c.2328C>G (p.Gly776=)
c.2319C>G (p.Gly773=)
c.2238C>G (p.Gly746=)
c.2187C>G (p.Gly729=)
 gnomAD v4
14g.33800476C>TCA486093220NPAS3c.2169C>T (p.Gly723=)
c.2178C>T (p.Gly726=)
c.2069C>T
c.793+2895C>T
c.2073C>T (p.Gly691=)
c.2130C>T (p.Gly710=)
c.2079C>T (p.Gly693=)
c.2184C>T (p.Gly728=)
c.2091C>T (p.Gly697=)
c.2190C>T (p.Gly730=)
c.2220C>T (p.Gly740=)
c.2211C>T (p.Gly737=)
c.2181C>T (p.Gly727=)
c.2124C>T (p.Gly708=)
c.2070C>T (p.Gly690=)
c.1863C>T (p.Gly621=)
c.2277C>T (p.Gly759=)
c.2271C>T (p.Gly757=)
c.2268C>T (p.Gly756=)
c.2328C>T (p.Gly776=)
c.2319C>T (p.Gly773=)
c.2238C>T (p.Gly746=)
c.2187C>T (p.Gly729=)
 dbSNP gnomAD v4
14g.33800476_33800477insACCTCCTCCTCCCA2801126438NPAS3c.2169_2170insACCTCCTCCTCC (p.Gly723_Ala724insThrSerSerSer)
c.2178_2179insACCTCCTCCTCC (p.Gly726_Ala727insThrSerSerSer)
c.2069_2070insACCTCCTCCTCC
c.793+2895_793+2896insACCTCCTCCTCC
c.2073_2074insACCTCCTCCTCC (p.Gly691_Ala692insThrSerSerSer)
c.2130_2131insACCTCCTCCTCC (p.Gly710_Ala711insThrSerSerSer)
c.2079_2080insACCTCCTCCTCC (p.Gly693_Ala694insThrSerSerSer)
c.2184_2185insACCTCCTCCTCC (p.Gly728_Ala729insThrSerSerSer)
c.2091_2092insACCTCCTCCTCC (p.Gly697_Ala698insThrSerSerSer)
c.2190_2191insACCTCCTCCTCC (p.Gly730_Ala731insThrSerSerSer)
c.2220_2221insACCTCCTCCTCC (p.Gly740_Ala741insThrSerSerSer)
c.2211_2212insACCTCCTCCTCC (p.Gly737_Ala738insThrSerSerSer)
c.2181_2182insACCTCCTCCTCC (p.Gly727_Ala728insThrSerSerSer)
c.2124_2125insACCTCCTCCTCC (p.Gly708_Ala709insThrSerSerSer)
c.2070_2071insACCTCCTCCTCC (p.Gly690_Ala691insThrSerSerSer)
c.1863_1864insACCTCCTCCTCC (p.Gly621_Ala622insThrSerSerSer)
c.2277_2278insACCTCCTCCTCC (p.Gly759_Ala760insThrSerSerSer)
c.2271_2272insACCTCCTCCTCC (p.Gly757_Ala758insThrSerSerSer)
c.2268_2269insACCTCCTCCTCC (p.Gly756_Ala757insThrSerSerSer)
c.2328_2329insACCTCCTCCTCC (p.Gly776_Ala777insThrSerSerSer)
c.2319_2320insACCTCCTCCTCC (p.Gly773_Ala774insThrSerSerSer)
c.2238_2239insACCTCCTCCTCC (p.Gly746_Ala747insThrSerSerSer)
c.2187_2188insACCTCCTCCTCC (p.Gly729_Ala730insThrSerSerSer)
14g.33800476_33800477insACGGCCGCCGCCCA2128327586NPAS3c.2169_2170insACGGCCGCCGCC (p.Gly723_Ala724insThrAlaAlaAla)
c.2178_2179insACGGCCGCCGCC (p.Gly726_Ala727insThrAlaAlaAla)
c.2069_2070insACGGCCGCCGCC
c.793+2895_793+2896insACGGCCGCCGCC
c.2073_2074insACGGCCGCCGCC (p.Gly691_Ala692insThrAlaAlaAla)
c.2130_2131insACGGCCGCCGCC (p.Gly710_Ala711insThrAlaAlaAla)
c.2079_2080insACGGCCGCCGCC (p.Gly693_Ala694insThrAlaAlaAla)
c.2184_2185insACGGCCGCCGCC (p.Gly728_Ala729insThrAlaAlaAla)
c.2091_2092insACGGCCGCCGCC (p.Gly697_Ala698insThrAlaAlaAla)
c.2190_2191insACGGCCGCCGCC (p.Gly730_Ala731insThrAlaAlaAla)
c.2220_2221insACGGCCGCCGCC (p.Gly740_Ala741insThrAlaAlaAla)
c.2211_2212insACGGCCGCCGCC (p.Gly737_Ala738insThrAlaAlaAla)
c.2181_2182insACGGCCGCCGCC (p.Gly727_Ala728insThrAlaAlaAla)
c.2124_2125insACGGCCGCCGCC (p.Gly708_Ala709insThrAlaAlaAla)
c.2070_2071insACGGCCGCCGCC (p.Gly690_Ala691insThrAlaAlaAla)
c.1863_1864insACGGCCGCCGCC (p.Gly621_Ala622insThrAlaAlaAla)
c.2277_2278insACGGCCGCCGCC (p.Gly759_Ala760insThrAlaAlaAla)
c.2271_2272insACGGCCGCCGCC (p.Gly757_Ala758insThrAlaAlaAla)
c.2268_2269insACGGCCGCCGCC (p.Gly756_Ala757insThrAlaAlaAla)
c.2328_2329insACGGCCGCCGCC (p.Gly776_Ala777insThrAlaAlaAla)
c.2319_2320insACGGCCGCCGCC (p.Gly773_Ala774insThrAlaAlaAla)
c.2238_2239insACGGCCGCCGCC (p.Gly746_Ala747insThrAlaAlaAla)
c.2187_2188insACGGCCGCCGCC (p.Gly729_Ala730insThrAlaAlaAla)
 dbSNP
14g.33800477G>ACA389414127NPAS3c.2170G>A (p.Ala724Thr)
c.2179G>A (p.Ala727Thr)
c.2070G>A
c.793+2896G>A
c.2074G>A (p.Ala692Thr)
c.2131G>A (p.Ala711Thr)
c.2080G>A (p.Ala694Thr)
c.2185G>A (p.Ala729Thr)
c.2092G>A (p.Ala698Thr)
c.2191G>A (p.Ala731Thr)
c.2221G>A (p.Ala741Thr)
c.2212G>A (p.Ala738Thr)
c.2182G>A (p.Ala728Thr)
c.2125G>A (p.Ala709Thr)
c.2071G>A (p.Ala691Thr)
c.1864G>A (p.Ala622Thr)
c.2278G>A (p.Ala760Thr)
c.2272G>A (p.Ala758Thr)
c.2269G>A (p.Ala757Thr)
c.2329G>A (p.Ala777Thr)
c.2320G>A (p.Ala774Thr)
c.2239G>A (p.Ala747Thr)
c.2188G>A (p.Ala730Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
14g.33800477G>CCA389414125NPAS3c.2170G>C (p.Ala724Pro)
c.2179G>C (p.Ala727Pro)
c.2070G>C
c.793+2896G>C
c.2074G>C (p.Ala692Pro)
c.2131G>C (p.Ala711Pro)
c.2080G>C (p.Ala694Pro)
c.2185G>C (p.Ala729Pro)
c.2092G>C (p.Ala698Pro)
c.2191G>C (p.Ala731Pro)
c.2221G>C (p.Ala741Pro)
c.2212G>C (p.Ala738Pro)
c.2182G>C (p.Ala728Pro)
c.2125G>C (p.Ala709Pro)
c.2071G>C (p.Ala691Pro)
c.1864G>C (p.Ala622Pro)
c.2278G>C (p.Ala760Pro)
c.2272G>C (p.Ala758Pro)
c.2269G>C (p.Ala757Pro)
c.2329G>C (p.Ala777Pro)
c.2320G>C (p.Ala774Pro)
c.2239G>C (p.Ala747Pro)
c.2188G>C (p.Ala730Pro)
 gnomAD v4
14g.33800477G=CA2128327590NPAS3c.2170G= (p.Ala724=)
c.2179G= (p.Ala727=)
c.2070G=
c.793+2896G=
c.2074G= (p.Ala692=)
c.2131G= (p.Ala711=)
c.2080G= (p.Ala694=)
c.2185G= (p.Ala729=)
c.2092G= (p.Ala698=)
c.2191G= (p.Ala731=)
c.2221G= (p.Ala741=)
c.2212G= (p.Ala738=)
c.2182G= (p.Ala728=)
c.2125G= (p.Ala709=)
c.2071G= (p.Ala691=)
c.1864G= (p.Ala622=)
c.2278G= (p.Ala760=)
c.2272G= (p.Ala758=)
c.2269G= (p.Ala757=)
c.2329G= (p.Ala777=)
c.2320G= (p.Ala774=)
c.2239G= (p.Ala747=)
c.2188G= (p.Ala730=)
14g.33800477G>TCA389414126NPAS3c.2170G>T (p.Ala724Ser)
c.2179G>T (p.Ala727Ser)
c.2070G>T
c.793+2896G>T
c.2074G>T (p.Ala692Ser)
c.2131G>T (p.Ala711Ser)
c.2080G>T (p.Ala694Ser)
c.2185G>T (p.Ala729Ser)
c.2092G>T (p.Ala698Ser)
c.2191G>T (p.Ala731Ser)
c.2221G>T (p.Ala741Ser)
c.2212G>T (p.Ala738Ser)
c.2182G>T (p.Ala728Ser)
c.2125G>T (p.Ala709Ser)
c.2071G>T (p.Ala691Ser)
c.1864G>T (p.Ala622Ser)
c.2278G>T (p.Ala760Ser)
c.2272G>T (p.Ala758Ser)
c.2269G>T (p.Ala757Ser)
c.2329G>T (p.Ala777Ser)
c.2320G>T (p.Ala774Ser)
c.2239G>T (p.Ala747Ser)
c.2188G>T (p.Ala730Ser)
14g.33800478C>ACA389414128NPAS3c.2171C>A (p.Ala724Glu)
c.2180C>A (p.Ala727Glu)
c.2071C>A
c.793+2897C>A
c.2075C>A (p.Ala692Glu)
c.2132C>A (p.Ala711Glu)
c.2081C>A (p.Ala694Glu)
c.2186C>A (p.Ala729Glu)
c.2093C>A (p.Ala698Glu)
c.2192C>A (p.Ala731Glu)
c.2222C>A (p.Ala741Glu)
c.2213C>A (p.Ala738Glu)
c.2183C>A (p.Ala728Glu)
c.2126C>A (p.Ala709Glu)
c.2072C>A (p.Ala691Glu)
c.1865C>A (p.Ala622Glu)
c.2279C>A (p.Ala760Glu)
c.2273C>A (p.Ala758Glu)
c.2270C>A (p.Ala757Glu)
c.2330C>A (p.Ala777Glu)
c.2321C>A (p.Ala774Glu)
c.2240C>A (p.Ala747Glu)
c.2189C>A (p.Ala730Glu)
 dbSNP gnomAD v2 gnomAD v4
14g.33800478C=CA2128327594NPAS3c.2171C= (p.Ala724=)
c.2180C= (p.Ala727=)
c.2071C=
c.793+2897C=
c.2075C= (p.Ala692=)
c.2132C= (p.Ala711=)
c.2081C= (p.Ala694=)
c.2186C= (p.Ala729=)
c.2093C= (p.Ala698=)
c.2192C= (p.Ala731=)
c.2222C= (p.Ala741=)
c.2213C= (p.Ala738=)
c.2183C= (p.Ala728=)
c.2126C= (p.Ala709=)
c.2072C= (p.Ala691=)
c.1865C= (p.Ala622=)
c.2279C= (p.Ala760=)
c.2273C= (p.Ala758=)
c.2270C= (p.Ala757=)
c.2330C= (p.Ala777=)
c.2321C= (p.Ala774=)
c.2240C= (p.Ala747=)
c.2189C= (p.Ala730=)
14g.33800478C>GCA389414129NPAS3c.2171C>G (p.Ala724Gly)
c.2180C>G (p.Ala727Gly)
c.2071C>G
c.793+2897C>G
c.2075C>G (p.Ala692Gly)
c.2132C>G (p.Ala711Gly)
c.2081C>G (p.Ala694Gly)
c.2186C>G (p.Ala729Gly)
c.2093C>G (p.Ala698Gly)
c.2192C>G (p.Ala731Gly)
c.2222C>G (p.Ala741Gly)
c.2213C>G (p.Ala738Gly)
c.2183C>G (p.Ala728Gly)
c.2126C>G (p.Ala709Gly)
c.2072C>G (p.Ala691Gly)
c.1865C>G (p.Ala622Gly)
c.2279C>G (p.Ala760Gly)
c.2273C>G (p.Ala758Gly)
c.2270C>G (p.Ala757Gly)
c.2330C>G (p.Ala777Gly)
c.2321C>G (p.Ala774Gly)
c.2240C>G (p.Ala747Gly)
c.2189C>G (p.Ala730Gly)
14g.33800478C>TCA389414130NPAS3c.2171C>T (p.Ala724Val)
c.2180C>T (p.Ala727Val)
c.2071C>T
c.793+2897C>T
c.2075C>T (p.Ala692Val)
c.2132C>T (p.Ala711Val)
c.2081C>T (p.Ala694Val)
c.2186C>T (p.Ala729Val)
c.2093C>T (p.Ala698Val)
c.2192C>T (p.Ala731Val)
c.2222C>T (p.Ala741Val)
c.2213C>T (p.Ala738Val)
c.2183C>T (p.Ala728Val)
c.2126C>T (p.Ala709Val)
c.2072C>T (p.Ala691Val)
c.1865C>T (p.Ala622Val)
c.2279C>T (p.Ala760Val)
c.2273C>T (p.Ala758Val)
c.2270C>T (p.Ala757Val)
c.2330C>T (p.Ala777Val)
c.2321C>T (p.Ala774Val)
c.2240C>T (p.Ala747Val)
c.2189C>T (p.Ala730Val)
 dbSNP gnomAD v3 gnomAD v4
14g.33800478_33800479insCACCA2801126439NPAS3c.2171_2172insCAC (p.Ala724_Ala725insThr)
c.2180_2181insCAC (p.Ala727_Ala728insThr)
c.2071_2072insCAC
c.793+2897_793+2898insCAC
c.2075_2076insCAC (p.Ala692_Ala693insThr)
c.2132_2133insCAC (p.Ala711_Ala712insThr)
c.2081_2082insCAC (p.Ala694_Ala695insThr)
c.2186_2187insCAC (p.Ala729_Ala730insThr)
c.2093_2094insCAC (p.Ala698_Ala699insThr)
c.2192_2193insCAC (p.Ala731_Ala732insThr)
c.2222_2223insCAC (p.Ala741_Ala742insThr)
c.2213_2214insCAC (p.Ala738_Ala739insThr)
c.2183_2184insCAC (p.Ala728_Ala729insThr)
c.2126_2127insCAC (p.Ala709_Ala710insThr)
c.2072_2073insCAC (p.Ala691_Ala692insThr)
c.1865_1866insCAC (p.Ala622_Ala623insThr)
c.2279_2280insCAC (p.Ala760_Ala761insThr)
c.2273_2274insCAC (p.Ala758_Ala759insThr)
c.2270_2271insCAC (p.Ala757_Ala758insThr)
c.2330_2331insCAC (p.Ala777_Ala778insThr)
c.2321_2322insCAC (p.Ala774_Ala775insThr)
c.2240_2241insCAC (p.Ala747_Ala748insThr)
c.2189_2190insCAC (p.Ala730_Ala731insThr)
14g.33800479G>ACA486093223NPAS3c.2172G>A (p.Ala724=)
c.2181G>A (p.Ala727=)
c.2072G>A
c.793+2898G>A
c.2076G>A (p.Ala692=)
c.2133G>A (p.Ala711=)
c.2082G>A (p.Ala694=)
c.2187G>A (p.Ala729=)
c.2094G>A (p.Ala698=)
c.2193G>A (p.Ala731=)
c.2223G>A (p.Ala741=)
c.2214G>A (p.Ala738=)
c.2184G>A (p.Ala728=)
c.2127G>A (p.Ala709=)
c.2073G>A (p.Ala691=)
c.1866G>A (p.Ala622=)
c.2280G>A (p.Ala760=)
c.2274G>A (p.Ala758=)
c.2271G>A (p.Ala757=)
c.2331G>A (p.Ala777=)
c.2322G>A (p.Ala774=)
c.2241G>A (p.Ala747=)
c.2190G>A (p.Ala730=)
 dbSNP gnomAD v4
14g.33800479G>CCA486093225NPAS3c.2172G>C (p.Ala724=)
c.2181G>C (p.Ala727=)
c.2072G>C
c.793+2898G>C
c.2076G>C (p.Ala692=)
c.2133G>C (p.Ala711=)
c.2082G>C (p.Ala694=)
c.2187G>C (p.Ala729=)
c.2094G>C (p.Ala698=)
c.2193G>C (p.Ala731=)
c.2223G>C (p.Ala741=)
c.2214G>C (p.Ala738=)
c.2184G>C (p.Ala728=)
c.2127G>C (p.Ala709=)
c.2073G>C (p.Ala691=)
c.1866G>C (p.Ala622=)
c.2280G>C (p.Ala760=)
c.2274G>C (p.Ala758=)
c.2271G>C (p.Ala757=)
c.2331G>C (p.Ala777=)
c.2322G>C (p.Ala774=)
c.2241G>C (p.Ala747=)
c.2190G>C (p.Ala730=)
14g.33800479G=CA2128327597NPAS3c.2172G= (p.Ala724=)
c.2181G= (p.Ala727=)
c.2072G=
c.793+2898G=
c.2076G= (p.Ala692=)
c.2133G= (p.Ala711=)
c.2082G= (p.Ala694=)
c.2187G= (p.Ala729=)
c.2094G= (p.Ala698=)
c.2193G= (p.Ala731=)
c.2223G= (p.Ala741=)
c.2214G= (p.Ala738=)
c.2184G= (p.Ala728=)
c.2127G= (p.Ala709=)
c.2073G= (p.Ala691=)
c.1866G= (p.Ala622=)
c.2280G= (p.Ala760=)
c.2274G= (p.Ala758=)
c.2271G= (p.Ala757=)
c.2331G= (p.Ala777=)
c.2322G= (p.Ala774=)
c.2241G= (p.Ala747=)
c.2190G= (p.Ala730=)
14g.33800479G>TCA486093224NPAS3c.2172G>T (p.Ala724=)
c.2181G>T (p.Ala727=)
c.2072G>T
c.793+2898G>T
c.2076G>T (p.Ala692=)
c.2133G>T (p.Ala711=)
c.2082G>T (p.Ala694=)
c.2187G>T (p.Ala729=)
c.2094G>T (p.Ala698=)
c.2193G>T (p.Ala731=)
c.2223G>T (p.Ala741=)
c.2214G>T (p.Ala738=)
c.2184G>T (p.Ala728=)
c.2127G>T (p.Ala709=)
c.2073G>T (p.Ala691=)
c.1866G>T (p.Ala622=)
c.2280G>T (p.Ala760=)
c.2274G>T (p.Ala758=)
c.2271G>T (p.Ala757=)
c.2331G>T (p.Ala777=)
c.2322G>T (p.Ala774=)
c.2241G>T (p.Ala747=)
c.2190G>T (p.Ala730=)
 gnomAD v4
14g.33800480G>ACA389414133NPAS3c.2173G>A (p.Ala725Thr)
c.2182G>A (p.Ala728Thr)
c.2073G>A
c.793+2899G>A
c.2077G>A (p.Ala693Thr)
c.2134G>A (p.Ala712Thr)
c.2083G>A (p.Ala695Thr)
c.2188G>A (p.Ala730Thr)
c.2095G>A (p.Ala699Thr)
c.2194G>A (p.Ala732Thr)
c.2224G>A (p.Ala742Thr)
c.2215G>A (p.Ala739Thr)
c.2185G>A (p.Ala729Thr)
c.2128G>A (p.Ala710Thr)
c.2074G>A (p.Ala692Thr)
c.1867G>A (p.Ala623Thr)
c.2281G>A (p.Ala761Thr)
c.2275G>A (p.Ala759Thr)
c.2272G>A (p.Ala758Thr)
c.2332G>A (p.Ala778Thr)
c.2323G>A (p.Ala775Thr)
c.2242G>A (p.Ala748Thr)
c.2191G>A (p.Ala731Thr)
 dbSNP gnomAD v4
14g.33800480G>CCA389414132NPAS3c.2173G>C (p.Ala725Pro)
c.2182G>C (p.Ala728Pro)
c.2073G>C
c.793+2899G>C
c.2077G>C (p.Ala693Pro)
c.2134G>C (p.Ala712Pro)
c.2083G>C (p.Ala695Pro)
c.2188G>C (p.Ala730Pro)
c.2095G>C (p.Ala699Pro)
c.2194G>C (p.Ala732Pro)
c.2224G>C (p.Ala742Pro)
c.2215G>C (p.Ala739Pro)
c.2185G>C (p.Ala729Pro)
c.2128G>C (p.Ala710Pro)
c.2074G>C (p.Ala692Pro)
c.1867G>C (p.Ala623Pro)
c.2281G>C (p.Ala761Pro)
c.2275G>C (p.Ala759Pro)
c.2272G>C (p.Ala758Pro)
c.2332G>C (p.Ala778Pro)
c.2323G>C (p.Ala775Pro)
c.2242G>C (p.Ala748Pro)
c.2191G>C (p.Ala731Pro)
 dbSNP gnomAD v4
14g.33800480G=CA2128327598NPAS3c.2173G= (p.Ala725=)
c.2182G= (p.Ala728=)
c.2073G=
c.793+2899G=
c.2077G= (p.Ala693=)
c.2134G= (p.Ala712=)
c.2083G= (p.Ala695=)
c.2188G= (p.Ala730=)
c.2095G= (p.Ala699=)
c.2194G= (p.Ala732=)
c.2224G= (p.Ala742=)
c.2215G= (p.Ala739=)
c.2185G= (p.Ala729=)
c.2128G= (p.Ala710=)
c.2074G= (p.Ala692=)
c.1867G= (p.Ala623=)
c.2281G= (p.Ala761=)
c.2275G= (p.Ala759=)
c.2272G= (p.Ala758=)
c.2332G= (p.Ala778=)
c.2323G= (p.Ala775=)
c.2242G= (p.Ala748=)
c.2191G= (p.Ala731=)
14g.33800480G>TCA389414131NPAS3c.2173G>T (p.Ala725Ser)
c.2182G>T (p.Ala728Ser)
c.2073G>T
c.793+2899G>T
c.2077G>T (p.Ala693Ser)
c.2134G>T (p.Ala712Ser)
c.2083G>T (p.Ala695Ser)
c.2188G>T (p.Ala730Ser)
c.2095G>T (p.Ala699Ser)
c.2194G>T (p.Ala732Ser)
c.2224G>T (p.Ala742Ser)
c.2215G>T (p.Ala739Ser)
c.2185G>T (p.Ala729Ser)
c.2128G>T (p.Ala710Ser)
c.2074G>T (p.Ala692Ser)
c.1867G>T (p.Ala623Ser)
c.2281G>T (p.Ala761Ser)
c.2275G>T (p.Ala759Ser)
c.2272G>T (p.Ala758Ser)
c.2332G>T (p.Ala778Ser)
c.2323G>T (p.Ala775Ser)
c.2242G>T (p.Ala748Ser)
c.2191G>T (p.Ala731Ser)
 gnomAD v4
14g.33800481C>ACA389414134NPAS3c.2174C>A (p.Ala725Asp)
c.2183C>A (p.Ala728Asp)
c.2074C>A
c.793+2900C>A
c.2078C>A (p.Ala693Asp)
c.2135C>A (p.Ala712Asp)
c.2084C>A (p.Ala695Asp)
c.2189C>A (p.Ala730Asp)
c.2096C>A (p.Ala699Asp)
c.2195C>A (p.Ala732Asp)
c.2225C>A (p.Ala742Asp)
c.2216C>A (p.Ala739Asp)
c.2186C>A (p.Ala729Asp)
c.2129C>A (p.Ala710Asp)
c.2075C>A (p.Ala692Asp)
c.1868C>A (p.Ala623Asp)
c.2282C>A (p.Ala761Asp)
c.2276C>A (p.Ala759Asp)
c.2273C>A (p.Ala758Asp)
c.2333C>A (p.Ala778Asp)
c.2324C>A (p.Ala775Asp)
c.2243C>A (p.Ala748Asp)
c.2192C>A (p.Ala731Asp)
 dbSNP gnomAD v4
14g.33800481C=CA2128327600NPAS3c.2174C= (p.Ala725=)
c.2183C= (p.Ala728=)
c.2074C=
c.793+2900C=
c.2078C= (p.Ala693=)
c.2135C= (p.Ala712=)
c.2084C= (p.Ala695=)
c.2189C= (p.Ala730=)
c.2096C= (p.Ala699=)
c.2195C= (p.Ala732=)
c.2225C= (p.Ala742=)
c.2216C= (p.Ala739=)
c.2186C= (p.Ala729=)
c.2129C= (p.Ala710=)
c.2075C= (p.Ala692=)
c.1868C= (p.Ala623=)
c.2282C= (p.Ala761=)
c.2276C= (p.Ala759=)
c.2273C= (p.Ala758=)
c.2333C= (p.Ala778=)
c.2324C= (p.Ala775=)
c.2243C= (p.Ala748=)
c.2192C= (p.Ala731=)
14g.33800481C>GCA389414135NPAS3c.2174C>G (p.Ala725Gly)
c.2183C>G (p.Ala728Gly)
c.2074C>G
c.793+2900C>G
c.2078C>G (p.Ala693Gly)
c.2135C>G (p.Ala712Gly)
c.2084C>G (p.Ala695Gly)
c.2189C>G (p.Ala730Gly)
c.2096C>G (p.Ala699Gly)
c.2195C>G (p.Ala732Gly)
c.2225C>G (p.Ala742Gly)
c.2216C>G (p.Ala739Gly)
c.2186C>G (p.Ala729Gly)
c.2129C>G (p.Ala710Gly)
c.2075C>G (p.Ala692Gly)
c.1868C>G (p.Ala623Gly)
c.2282C>G (p.Ala761Gly)
c.2276C>G (p.Ala759Gly)
c.2273C>G (p.Ala758Gly)
c.2333C>G (p.Ala778Gly)
c.2324C>G (p.Ala775Gly)
c.2243C>G (p.Ala748Gly)
c.2192C>G (p.Ala731Gly)
14g.33800481C>TCA389414136NPAS3c.2174C>T (p.Ala725Val)
c.2183C>T (p.Ala728Val)
c.2074C>T
c.793+2900C>T
c.2078C>T (p.Ala693Val)
c.2135C>T (p.Ala712Val)
c.2084C>T (p.Ala695Val)
c.2189C>T (p.Ala730Val)
c.2096C>T (p.Ala699Val)
c.2195C>T (p.Ala732Val)
c.2225C>T (p.Ala742Val)
c.2216C>T (p.Ala739Val)
c.2186C>T (p.Ala729Val)
c.2129C>T (p.Ala710Val)
c.2075C>T (p.Ala692Val)
c.1868C>T (p.Ala623Val)
c.2282C>T (p.Ala761Val)
c.2276C>T (p.Ala759Val)
c.2273C>T (p.Ala758Val)
c.2333C>T (p.Ala778Val)
c.2324C>T (p.Ala775Val)
c.2243C>T (p.Ala748Val)
c.2192C>T (p.Ala731Val)
 gnomAD v4
14g.33800482C>ACA486093227NPAS3c.2175C>A (p.Ala725=)
c.2184C>A (p.Ala728=)
c.2075C>A
c.793+2901C>A
c.2079C>A (p.Ala693=)
c.2136C>A (p.Ala712=)
c.2085C>A (p.Ala695=)
c.2190C>A (p.Ala730=)
c.2097C>A (p.Ala699=)
c.2196C>A (p.Ala732=)
c.2226C>A (p.Ala742=)
c.2217C>A (p.Ala739=)
c.2187C>A (p.Ala729=)
c.2130C>A (p.Ala710=)
c.2076C>A (p.Ala692=)
c.1869C>A (p.Ala623=)
c.2283C>A (p.Ala761=)
c.2277C>A (p.Ala759=)
c.2274C>A (p.Ala758=)
c.2334C>A (p.Ala778=)
c.2325C>A (p.Ala775=)
c.2244C>A (p.Ala748=)
c.2193C>A (p.Ala731=)
 gnomAD v4
14g.33800482C=CA2128327605NPAS3c.2175C= (p.Ala725=)
c.2184C= (p.Ala728=)
c.2075C=
c.793+2901C=
c.2079C= (p.Ala693=)
c.2136C= (p.Ala712=)
c.2085C= (p.Ala695=)
c.2190C= (p.Ala730=)
c.2097C= (p.Ala699=)
c.2196C= (p.Ala732=)
c.2226C= (p.Ala742=)
c.2217C= (p.Ala739=)
c.2187C= (p.Ala729=)
c.2130C= (p.Ala710=)
c.2076C= (p.Ala692=)
c.1869C= (p.Ala623=)
c.2283C= (p.Ala761=)
c.2277C= (p.Ala759=)
c.2274C= (p.Ala758=)
c.2334C= (p.Ala778=)
c.2325C= (p.Ala775=)
c.2244C= (p.Ala748=)
c.2193C= (p.Ala731=)
14g.33800482C>GCA486093229NPAS3c.2175C>G (p.Ala725=)
c.2184C>G (p.Ala728=)
c.2075C>G
c.793+2901C>G
c.2079C>G (p.Ala693=)
c.2136C>G (p.Ala712=)
c.2085C>G (p.Ala695=)
c.2190C>G (p.Ala730=)
c.2097C>G (p.Ala699=)
c.2196C>G (p.Ala732=)
c.2226C>G (p.Ala742=)
c.2217C>G (p.Ala739=)
c.2187C>G (p.Ala729=)
c.2130C>G (p.Ala710=)
c.2076C>G (p.Ala692=)
c.1869C>G (p.Ala623=)
c.2283C>G (p.Ala761=)
c.2277C>G (p.Ala759=)
c.2274C>G (p.Ala758=)
c.2334C>G (p.Ala778=)
c.2325C>G (p.Ala775=)
c.2244C>G (p.Ala748=)
c.2193C>G (p.Ala731=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.33800482C>TCA486093230NPAS3c.2175C>T (p.Ala725=)
c.2184C>T (p.Ala728=)
c.2075C>T
c.793+2901C>T
c.2079C>T (p.Ala693=)
c.2136C>T (p.Ala712=)
c.2085C>T (p.Ala695=)
c.2190C>T (p.Ala730=)
c.2097C>T (p.Ala699=)
c.2196C>T (p.Ala732=)
c.2226C>T (p.Ala742=)
c.2217C>T (p.Ala739=)
c.2187C>T (p.Ala729=)
c.2130C>T (p.Ala710=)
c.2076C>T (p.Ala692=)
c.1869C>T (p.Ala623=)
c.2283C>T (p.Ala761=)
c.2277C>T (p.Ala759=)
c.2274C>T (p.Ala758=)
c.2334C>T (p.Ala778=)
c.2325C>T (p.Ala775=)
c.2244C>T (p.Ala748=)
c.2193C>T (p.Ala731=)
 gnomAD v4
14g.33800483_33800484delCA2624512037NPAS3c.2176_2177del (p.Ala726ProfsTer?)
c.2185_2186del (p.Ala729ProfsTer?)
c.2076_2077del
c.793+2902_793+2903del
c.2080_2081del (p.Ala694ProfsTer?)
c.2137_2138del (p.Ala713ProfsTer?)
c.2086_2087del (p.Ala696ProfsTer?)
c.2191_2192del (p.Ala731ProfsTer?)
c.2098_2099del (p.Ala700ProfsTer?)
c.2197_2198del (p.Ala733ProfsTer?)
c.2227_2228del (p.Ala743ProfsTer?)
c.2218_2219del (p.Ala740ProfsTer?)
c.2188_2189del (p.Ala730ProfsTer?)
c.2131_2132del (p.Ala711ProfsTer?)
c.2077_2078del (p.Ala693ProfsTer?)
c.1870_1871del (p.Ala624ProfsTer?)
c.2284_2285del (p.Ala762ProfsTer?)
c.2278_2279del (p.Ala760ProfsTer?)
c.2275_2276del (p.Ala759ProfsTer?)
c.2335_2336del (p.Ala779ProfsTer?)
c.2326_2327del (p.Ala776ProfsTer?)
c.2245_2246del (p.Ala749ProfsTer?)
c.2194_2195del (p.Ala732ProfsTer?)
 gnomAD v4
14g.33800483G>ACA389414137NPAS3c.2176G>A (p.Ala726Thr)
c.2185G>A (p.Ala729Thr)
c.2076G>A
c.793+2902G>A
c.2080G>A (p.Ala694Thr)
c.2137G>A (p.Ala713Thr)
c.2086G>A (p.Ala696Thr)
c.2191G>A (p.Ala731Thr)
c.2098G>A (p.Ala700Thr)
c.2197G>A (p.Ala733Thr)
c.2227G>A (p.Ala743Thr)
c.2218G>A (p.Ala740Thr)
c.2188G>A (p.Ala730Thr)
c.2131G>A (p.Ala711Thr)
c.2077G>A (p.Ala693Thr)
c.1870G>A (p.Ala624Thr)
c.2284G>A (p.Ala762Thr)
c.2278G>A (p.Ala760Thr)
c.2275G>A (p.Ala759Thr)
c.2335G>A (p.Ala779Thr)
c.2326G>A (p.Ala776Thr)
c.2245G>A (p.Ala749Thr)
c.2194G>A (p.Ala732Thr)
 dbSNP gnomAD v4
14g.33800483G>CCA389414138NPAS3c.2176G>C (p.Ala726Pro)
c.2185G>C (p.Ala729Pro)
c.2076G>C
c.793+2902G>C
c.2080G>C (p.Ala694Pro)
c.2137G>C (p.Ala713Pro)
c.2086G>C (p.Ala696Pro)
c.2191G>C (p.Ala731Pro)
c.2098G>C (p.Ala700Pro)
c.2197G>C (p.Ala733Pro)
c.2227G>C (p.Ala743Pro)
c.2218G>C (p.Ala740Pro)
c.2188G>C (p.Ala730Pro)
c.2131G>C (p.Ala711Pro)
c.2077G>C (p.Ala693Pro)
c.1870G>C (p.Ala624Pro)
c.2284G>C (p.Ala762Pro)
c.2278G>C (p.Ala760Pro)
c.2275G>C (p.Ala759Pro)
c.2335G>C (p.Ala779Pro)
c.2326G>C (p.Ala776Pro)
c.2245G>C (p.Ala749Pro)
c.2194G>C (p.Ala732Pro)
14g.33800483G=CA2128327607NPAS3c.2176G= (p.Ala726=)
c.2185G= (p.Ala729=)
c.2076G=
c.793+2902G=
c.2080G= (p.Ala694=)
c.2137G= (p.Ala713=)
c.2086G= (p.Ala696=)
c.2191G= (p.Ala731=)
c.2098G= (p.Ala700=)
c.2197G= (p.Ala733=)
c.2227G= (p.Ala743=)
c.2218G= (p.Ala740=)
c.2188G= (p.Ala730=)
c.2131G= (p.Ala711=)
c.2077G= (p.Ala693=)
c.1870G= (p.Ala624=)
c.2284G= (p.Ala762=)
c.2278G= (p.Ala760=)
c.2275G= (p.Ala759=)
c.2335G= (p.Ala779=)
c.2326G= (p.Ala776=)
c.2245G= (p.Ala749=)
c.2194G= (p.Ala732=)
14g.33800483G>TCA389414139NPAS3c.2176G>T (p.Ala726Ser)
c.2185G>T (p.Ala729Ser)
c.2076G>T
c.793+2902G>T
c.2080G>T (p.Ala694Ser)
c.2137G>T (p.Ala713Ser)
c.2086G>T (p.Ala696Ser)
c.2191G>T (p.Ala731Ser)
c.2098G>T (p.Ala700Ser)
c.2197G>T (p.Ala733Ser)
c.2227G>T (p.Ala743Ser)
c.2218G>T (p.Ala740Ser)
c.2188G>T (p.Ala730Ser)
c.2131G>T (p.Ala711Ser)
c.2077G>T (p.Ala693Ser)
c.1870G>T (p.Ala624Ser)
c.2284G>T (p.Ala762Ser)
c.2278G>T (p.Ala760Ser)
c.2275G>T (p.Ala759Ser)
c.2335G>T (p.Ala779Ser)
c.2326G>T (p.Ala776Ser)
c.2245G>T (p.Ala749Ser)
c.2194G>T (p.Ala732Ser)
 dbSNP gnomAD v3 gnomAD v4
14g.33800484C>ACA389414140NPAS3c.2177C>A (p.Ala726Asp)
c.2186C>A (p.Ala729Asp)
c.2077C>A
c.793+2903C>A
c.2081C>A (p.Ala694Asp)
c.2138C>A (p.Ala713Asp)
c.2087C>A (p.Ala696Asp)
c.2192C>A (p.Ala731Asp)
c.2099C>A (p.Ala700Asp)
c.2198C>A (p.Ala733Asp)
c.2228C>A (p.Ala743Asp)
c.2219C>A (p.Ala740Asp)
c.2189C>A (p.Ala730Asp)
c.2132C>A (p.Ala711Asp)
c.2078C>A (p.Ala693Asp)
c.1871C>A (p.Ala624Asp)
c.2285C>A (p.Ala762Asp)
c.2279C>A (p.Ala760Asp)
c.2276C>A (p.Ala759Asp)
c.2336C>A (p.Ala779Asp)
c.2327C>A (p.Ala776Asp)
c.2246C>A (p.Ala749Asp)
c.2195C>A (p.Ala732Asp)
 dbSNP gnomAD v3 gnomAD v4
14g.33800484C=CA2128327611NPAS3c.2177C= (p.Ala726=)
c.2186C= (p.Ala729=)
c.2077C=
c.793+2903C=
c.2081C= (p.Ala694=)
c.2138C= (p.Ala713=)
c.2087C= (p.Ala696=)
c.2192C= (p.Ala731=)
c.2099C= (p.Ala700=)
c.2198C= (p.Ala733=)
c.2228C= (p.Ala743=)
c.2219C= (p.Ala740=)
c.2189C= (p.Ala730=)
c.2132C= (p.Ala711=)
c.2078C= (p.Ala693=)
c.1871C= (p.Ala624=)
c.2285C= (p.Ala762=)
c.2279C= (p.Ala760=)
c.2276C= (p.Ala759=)
c.2336C= (p.Ala779=)
c.2327C= (p.Ala776=)
c.2246C= (p.Ala749=)
c.2195C= (p.Ala732=)
14g.33800484C>GCA389414142NPAS3c.2177C>G (p.Ala726Gly)
c.2186C>G (p.Ala729Gly)
c.2077C>G
c.793+2903C>G
c.2081C>G (p.Ala694Gly)
c.2138C>G (p.Ala713Gly)
c.2087C>G (p.Ala696Gly)
c.2192C>G (p.Ala731Gly)
c.2099C>G (p.Ala700Gly)
c.2198C>G (p.Ala733Gly)
c.2228C>G (p.Ala743Gly)
c.2219C>G (p.Ala740Gly)
c.2189C>G (p.Ala730Gly)
c.2132C>G (p.Ala711Gly)
c.2078C>G (p.Ala693Gly)
c.1871C>G (p.Ala624Gly)
c.2285C>G (p.Ala762Gly)
c.2279C>G (p.Ala760Gly)
c.2276C>G (p.Ala759Gly)
c.2336C>G (p.Ala779Gly)
c.2327C>G (p.Ala776Gly)
c.2246C>G (p.Ala749Gly)
c.2195C>G (p.Ala732Gly)
14g.33800484C>TCA389414141NPAS3c.2177C>T (p.Ala726Val)
c.2186C>T (p.Ala729Val)
c.2077C>T
c.793+2903C>T
c.2081C>T (p.Ala694Val)
c.2138C>T (p.Ala713Val)
c.2087C>T (p.Ala696Val)
c.2192C>T (p.Ala731Val)
c.2099C>T (p.Ala700Val)
c.2198C>T (p.Ala733Val)
c.2228C>T (p.Ala743Val)
c.2219C>T (p.Ala740Val)
c.2189C>T (p.Ala730Val)
c.2132C>T (p.Ala711Val)
c.2078C>T (p.Ala693Val)
c.1871C>T (p.Ala624Val)
c.2285C>T (p.Ala762Val)
c.2279C>T (p.Ala760Val)
c.2276C>T (p.Ala759Val)
c.2336C>T (p.Ala779Val)
c.2327C>T (p.Ala776Val)
c.2246C>T (p.Ala749Val)
c.2195C>T (p.Ala732Val)
 gnomAD v4
14g.33800486delCA2624512038NPAS3c.2179del (p.Arg727AlafsTer?)
c.2188del (p.Arg730AlafsTer?)
c.2079del
c.793+2905del
c.2083del (p.Arg695AlafsTer?)
c.2140del (p.Arg714AlafsTer?)
c.2089del (p.Arg697AlafsTer?)
c.2194del (p.Arg732AlafsTer?)
c.2101del (p.Arg701AlafsTer?)
c.2200del (p.Arg734AlafsTer?)
c.2230del (p.Arg744AlafsTer?)
c.2221del (p.Arg741AlafsTer?)
c.2191del (p.Arg731AlafsTer?)
c.2134del (p.Arg712AlafsTer?)
c.2080del (p.Arg694AlafsTer?)
c.1873del (p.Arg625AlafsTer?)
c.2287del (p.Arg763AlafsTer?)
c.2281del (p.Arg761AlafsTer?)
c.2278del (p.Arg760AlafsTer?)
c.2338del (p.Arg780AlafsTer?)
c.2329del (p.Arg777AlafsTer?)
c.2248del (p.Arg750AlafsTer?)
c.2197del (p.Arg733AlafsTer?)
 gnomAD v4

Number of alleles fetched