| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.33800407_33800418del | CA2575504025 | NPAS3 | c.2100_2111del (p.Gly701_Gly704del) c.2109_2120del (p.Gly704_Gly707del) c.2000_2011del c.793+2826_793+2837del c.2004_2015del (p.Gly669_Gly672del) c.2061_2072del (p.Gly688_Gly691del) c.2010_2021del (p.Gly671_Gly674del) c.2115_2126del (p.Gly706_Gly709del) c.2022_2033del (p.Gly675_Gly678del) c.2121_2132del (p.Gly708_Gly711del) c.2151_2162del (p.Gly718_Gly721del) c.2142_2153del (p.Gly715_Gly718del) c.2112_2123del (p.Gly705_Gly708del) c.2055_2066del (p.Gly686_Gly689del) c.2001_2012del (p.Gly668_Gly671del) c.1794_1805del (p.Gly599_Gly602del) c.2208_2219del (p.Gly737_Gly740del) c.2202_2213del (p.Gly735_Gly738del) c.2199_2210del (p.Gly734_Gly737del) c.2259_2270del (p.Gly754_Gly757del) c.2250_2261del (p.Gly751_Gly754del) c.2169_2180del (p.Gly724_Gly727del) c.2118_2129del (p.Gly707_Gly710del) | gnomAD v4 |
| 14 | g.33800404_33800422delinsTGGGGGTGGCGGTGGCGGG | CA2128327402 | NPAS3 | c.2097_2115delinsTGGGGGTGGCGGTGGCGGG (p.Gly699=) c.2106_2124delinsTGGGGGTGGCGGTGGCGGG (p.Gly702=) c.1997_2015delinsTGGGGGTGGCGGTGGCGGG c.793+2823_793+2841delinsTGGGGGTGGCGGTGGCGGG c.2001_2019delinsTGGGGGTGGCGGTGGCGGG (p.Gly667=) c.2058_2076delinsTGGGGGTGGCGGTGGCGGG (p.Gly686=) c.2007_2025delinsTGGGGGTGGCGGTGGCGGG (p.Gly669=) c.2112_2130delinsTGGGGGTGGCGGTGGCGGG (p.Gly704=) c.2019_2037delinsTGGGGGTGGCGGTGGCGGG (p.Gly673=) c.2118_2136delinsTGGGGGTGGCGGTGGCGGG (p.Gly706=) c.2148_2166delinsTGGGGGTGGCGGTGGCGGG (p.Gly716=) c.2139_2157delinsTGGGGGTGGCGGTGGCGGG (p.Gly713=) c.2109_2127delinsTGGGGGTGGCGGTGGCGGG (p.Gly703=) c.2052_2070delinsTGGGGGTGGCGGTGGCGGG (p.Gly684=) c.1998_2016delinsTGGGGGTGGCGGTGGCGGG (p.Gly666=) c.1791_1809delinsTGGGGGTGGCGGTGGCGGG (p.Gly597=) c.2205_2223delinsTGGGGGTGGCGGTGGCGGG (p.Gly735=) c.2199_2217delinsTGGGGGTGGCGGTGGCGGG (p.Gly733=) c.2196_2214delinsTGGGGGTGGCGGTGGCGGG (p.Gly732=) c.2256_2274delinsTGGGGGTGGCGGTGGCGGG (p.Gly752=) c.2247_2265delinsTGGGGGTGGCGGTGGCGGG (p.Gly749=) c.2166_2184delinsTGGGGGTGGCGGTGGCGGG (p.Gly722=) c.2115_2133delinsTGGGGGTGGCGGTGGCGGG (p.Gly705=) | |
| 14 | g.33800408_33800425del | CA961818497 | NPAS3 | c.2101_2118del (p.Gly701_Gly706del) c.2110_2127del (p.Gly704_Gly709del) c.2001_2018del c.793+2827_793+2844del c.2005_2022del (p.Gly669_Gly674del) c.2062_2079del (p.Gly688_Gly693del) c.2011_2028del (p.Gly671_Gly676del) c.2116_2133del (p.Gly706_Gly711del) c.2023_2040del (p.Gly675_Gly680del) c.2122_2139del (p.Gly708_Gly713del) c.2152_2169del (p.Gly718_Gly723del) c.2143_2160del (p.Gly715_Gly720del) c.2113_2130del (p.Gly705_Gly710del) c.2056_2073del (p.Gly686_Gly691del) c.2002_2019del (p.Gly668_Gly673del) c.1795_1812del (p.Gly599_Gly604del) c.2209_2226del (p.Gly737_Gly742del) c.2203_2220del (p.Gly735_Gly740del) c.2200_2217del (p.Gly734_Gly739del) c.2260_2277del (p.Gly754_Gly759del) c.2251_2268del (p.Gly751_Gly756del) c.2170_2187del (p.Gly724_Gly729del) c.2119_2136del (p.Gly707_Gly712del) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800416_33800421dup | CA7150940 | NPAS3 | c.2109_2114dup (p.Gly705_Gly706insGlyGly) c.2118_2123dup (p.Gly708_Gly709insGlyGly) c.2009_2014dup c.793+2835_793+2840dup c.2013_2018dup (p.Gly673_Gly674insGlyGly) c.2070_2075dup (p.Gly692_Gly693insGlyGly) c.2019_2024dup (p.Gly675_Gly676insGlyGly) c.2124_2129dup (p.Gly710_Gly711insGlyGly) c.2031_2036dup (p.Gly679_Gly680insGlyGly) c.2130_2135dup (p.Gly712_Gly713insGlyGly) c.2160_2165dup (p.Gly722_Gly723insGlyGly) c.2151_2156dup (p.Gly719_Gly720insGlyGly) c.2121_2126dup (p.Gly709_Gly710insGlyGly) c.2064_2069dup (p.Gly690_Gly691insGlyGly) c.2010_2015dup (p.Gly672_Gly673insGlyGly) c.1803_1808dup (p.Gly603_Gly604insGlyGly) c.2217_2222dup (p.Gly741_Gly742insGlyGly) c.2211_2216dup (p.Gly739_Gly740insGlyGly) c.2208_2213dup (p.Gly738_Gly739insGlyGly) c.2268_2273dup (p.Gly758_Gly759insGlyGly) c.2259_2264dup (p.Gly755_Gly756insGlyGly) c.2178_2183dup (p.Gly728_Gly729insGlyGly) c.2127_2132dup (p.Gly711_Gly712insGlyGly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800416_33800421del | CA613803863 | NPAS3 | c.2109_2114del (p.Gly704_Gly705del) c.2118_2123del (p.Gly707_Gly708del) c.2009_2014del c.793+2835_793+2840del c.2013_2018del (p.Gly672_Gly673del) c.2070_2075del (p.Gly691_Gly692del) c.2019_2024del (p.Gly674_Gly675del) c.2124_2129del (p.Gly709_Gly710del) c.2031_2036del (p.Gly678_Gly679del) c.2130_2135del (p.Gly711_Gly712del) c.2160_2165del (p.Gly721_Gly722del) c.2151_2156del (p.Gly718_Gly719del) c.2121_2126del (p.Gly708_Gly709del) c.2064_2069del (p.Gly689_Gly690del) c.2010_2015del (p.Gly671_Gly672del) c.1803_1808del (p.Gly602_Gly603del) c.2217_2222del (p.Gly740_Gly741del) c.2211_2216del (p.Gly738_Gly739del) c.2208_2213del (p.Gly737_Gly738del) c.2268_2273del (p.Gly757_Gly758del) c.2259_2264del (p.Gly754_Gly755del) c.2178_2183del (p.Gly727_Gly728del) c.2127_2132del (p.Gly710_Gly711del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800408_33800431delinsGGTGGCGGTGGCGGGGGGCTGCAC | CA2128327418 | NPAS3 | c.2101_2124delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly701=) c.2110_2133delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly704=) c.2001_2024delinsGGTGGCGGTGGCGGGGGGCTGCAC c.793+2827_793+2850delinsGGTGGCGGTGGCGGGGGGCTGCAC c.2005_2028delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly669=) c.2062_2085delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly688=) c.2011_2034delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly671=) c.2116_2139delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly706=) c.2023_2046delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly675=) c.2122_2145delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly708=) c.2152_2175delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly718=) c.2143_2166delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly715=) c.2113_2136delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly705=) c.2056_2079delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly686=) c.2002_2025delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly668=) c.1795_1818delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly599=) c.2209_2232delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly737=) c.2203_2226delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly735=) c.2200_2223delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly734=) c.2260_2283delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly754=) c.2251_2274delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly751=) c.2170_2193delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly724=) c.2119_2142delinsGGTGGCGGTGGCGGGGGGCTGCAC (p.Gly707=) | |
| 14 | g.33800414_33800436del | CA961818523 | NPAS3 | c.2107_2129del (p.Gly703HisfsTer?) c.2116_2138del (p.Gly706HisfsTer?) c.2007_2029del c.793+2833_793+2855del c.2011_2033del (p.Gly671HisfsTer?) c.2068_2090del (p.Gly690HisfsTer?) c.2017_2039del (p.Gly673HisfsTer?) c.2122_2144del (p.Gly708HisfsTer?) c.2029_2051del (p.Gly677HisfsTer?) c.2128_2150del (p.Gly710HisfsTer?) c.2158_2180del (p.Gly720HisfsTer?) c.2149_2171del (p.Gly717HisfsTer?) c.2119_2141del (p.Gly707HisfsTer?) c.2062_2084del (p.Gly688HisfsTer?) c.2008_2030del (p.Gly670HisfsTer?) c.1801_1823del (p.Gly601HisfsTer?) c.2215_2237del (p.Gly739HisfsTer?) c.2209_2231del (p.Gly737HisfsTer?) c.2206_2228del (p.Gly736HisfsTer?) c.2266_2288del (p.Gly756HisfsTer?) c.2257_2279del (p.Gly753HisfsTer?) c.2176_2198del (p.Gly726HisfsTer?) c.2125_2147del (p.Gly709HisfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800413_33800421dup | CA2624512035 | NPAS3 | c.2106_2114dup (p.Gly705_Gly706insGlyGlyGly) c.2115_2123dup (p.Gly708_Gly709insGlyGlyGly) c.2006_2014dup c.793+2832_793+2840dup c.2010_2018dup (p.Gly673_Gly674insGlyGlyGly) c.2067_2075dup (p.Gly692_Gly693insGlyGlyGly) c.2016_2024dup (p.Gly675_Gly676insGlyGlyGly) c.2121_2129dup (p.Gly710_Gly711insGlyGlyGly) c.2028_2036dup (p.Gly679_Gly680insGlyGlyGly) c.2127_2135dup (p.Gly712_Gly713insGlyGlyGly) c.2157_2165dup (p.Gly722_Gly723insGlyGlyGly) c.2148_2156dup (p.Gly719_Gly720insGlyGlyGly) c.2118_2126dup (p.Gly709_Gly710insGlyGlyGly) c.2061_2069dup (p.Gly690_Gly691insGlyGlyGly) c.2007_2015dup (p.Gly672_Gly673insGlyGlyGly) c.1800_1808dup (p.Gly603_Gly604insGlyGlyGly) c.2214_2222dup (p.Gly741_Gly742insGlyGlyGly) c.2208_2216dup (p.Gly739_Gly740insGlyGlyGly) c.2205_2213dup (p.Gly738_Gly739insGlyGlyGly) c.2265_2273dup (p.Gly758_Gly759insGlyGlyGly) c.2256_2264dup (p.Gly755_Gly756insGlyGlyGly) c.2175_2183dup (p.Gly728_Gly729insGlyGlyGly) c.2124_2132dup (p.Gly711_Gly712insGlyGlyGly) | gnomAD v4 |
| 14 | g.33800416_33800418del | CA2541428685 | NPAS3 | c.2109_2111del (p.Gly704del) c.2118_2120del (p.Gly707del) c.2009_2011del c.793+2835_793+2837del c.2013_2015del (p.Gly672del) c.2070_2072del (p.Gly691del) c.2019_2021del (p.Gly674del) c.2124_2126del (p.Gly709del) c.2031_2033del (p.Gly678del) c.2130_2132del (p.Gly711del) c.2160_2162del (p.Gly721del) c.2151_2153del (p.Gly718del) c.2121_2123del (p.Gly708del) c.2064_2066del (p.Gly689del) c.2010_2012del (p.Gly671del) c.1803_1805del (p.Gly602del) c.2217_2219del (p.Gly740del) c.2211_2213del (p.Gly738del) c.2208_2210del (p.Gly737del) c.2268_2270del (p.Gly757del) c.2259_2261del (p.Gly754del) c.2178_2180del (p.Gly727del) c.2127_2129del (p.Gly710del) | |
| 14 | g.33800415G>A | CA389413942 | NPAS3 | c.2108G>A (p.Gly703Asp) c.2117G>A (p.Gly706Asp) c.2008G>A c.793+2834G>A c.2012G>A (p.Gly671Asp) c.2069G>A (p.Gly690Asp) c.2018G>A (p.Gly673Asp) c.2123G>A (p.Gly708Asp) c.2030G>A (p.Gly677Asp) c.2129G>A (p.Gly710Asp) c.2159G>A (p.Gly720Asp) c.2150G>A (p.Gly717Asp) c.2120G>A (p.Gly707Asp) c.2063G>A (p.Gly688Asp) c.2009G>A (p.Gly670Asp) c.1802G>A (p.Gly601Asp) c.2216G>A (p.Gly739Asp) c.2210G>A (p.Gly737Asp) c.2207G>A (p.Gly736Asp) c.2267G>A (p.Gly756Asp) c.2258G>A (p.Gly753Asp) c.2177G>A (p.Gly726Asp) c.2126G>A (p.Gly709Asp) | gnomAD v4 |
| 14 | g.33800415G>C | CA389413944 | NPAS3 | c.2108G>C (p.Gly703Ala) c.2117G>C (p.Gly706Ala) c.2008G>C c.793+2834G>C c.2012G>C (p.Gly671Ala) c.2069G>C (p.Gly690Ala) c.2018G>C (p.Gly673Ala) c.2123G>C (p.Gly708Ala) c.2030G>C (p.Gly677Ala) c.2129G>C (p.Gly710Ala) c.2159G>C (p.Gly720Ala) c.2150G>C (p.Gly717Ala) c.2120G>C (p.Gly707Ala) c.2063G>C (p.Gly688Ala) c.2009G>C (p.Gly670Ala) c.1802G>C (p.Gly601Ala) c.2216G>C (p.Gly739Ala) c.2210G>C (p.Gly737Ala) c.2207G>C (p.Gly736Ala) c.2267G>C (p.Gly756Ala) c.2258G>C (p.Gly753Ala) c.2177G>C (p.Gly726Ala) c.2126G>C (p.Gly709Ala) | |
| 14 | g.33800415G= | CA2128327439 | NPAS3 | c.2108G= (p.Gly703=) c.2117G= (p.Gly706=) c.2008G= c.793+2834G= c.2012G= (p.Gly671=) c.2069G= (p.Gly690=) c.2018G= (p.Gly673=) c.2123G= (p.Gly708=) c.2030G= (p.Gly677=) c.2129G= (p.Gly710=) c.2159G= (p.Gly720=) c.2150G= (p.Gly717=) c.2120G= (p.Gly707=) c.2063G= (p.Gly688=) c.2009G= (p.Gly670=) c.1802G= (p.Gly601=) c.2216G= (p.Gly739=) c.2210G= (p.Gly737=) c.2207G= (p.Gly736=) c.2267G= (p.Gly756=) c.2258G= (p.Gly753=) c.2177G= (p.Gly726=) c.2126G= (p.Gly709=) | |
| 14 | g.33800415G>T | CA389413946 | NPAS3 | c.2108G>T (p.Gly703Val) c.2117G>T (p.Gly706Val) c.2008G>T c.793+2834G>T c.2012G>T (p.Gly671Val) c.2069G>T (p.Gly690Val) c.2018G>T (p.Gly673Val) c.2123G>T (p.Gly708Val) c.2030G>T (p.Gly677Val) c.2129G>T (p.Gly710Val) c.2159G>T (p.Gly720Val) c.2150G>T (p.Gly717Val) c.2120G>T (p.Gly707Val) c.2063G>T (p.Gly688Val) c.2009G>T (p.Gly670Val) c.1802G>T (p.Gly601Val) c.2216G>T (p.Gly739Val) c.2210G>T (p.Gly737Val) c.2207G>T (p.Gly736Val) c.2267G>T (p.Gly756Val) c.2258G>T (p.Gly753Val) c.2177G>T (p.Gly726Val) c.2126G>T (p.Gly709Val) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800416T>A | CA486093122 | NPAS3 | c.2109T>A (p.Gly703=) c.2118T>A (p.Gly706=) c.2009T>A c.793+2835T>A c.2013T>A (p.Gly671=) c.2070T>A (p.Gly690=) c.2019T>A (p.Gly673=) c.2124T>A (p.Gly708=) c.2031T>A (p.Gly677=) c.2130T>A (p.Gly710=) c.2160T>A (p.Gly720=) c.2151T>A (p.Gly717=) c.2121T>A (p.Gly707=) c.2064T>A (p.Gly688=) c.2010T>A (p.Gly670=) c.1803T>A (p.Gly601=) c.2217T>A (p.Gly739=) c.2211T>A (p.Gly737=) c.2208T>A (p.Gly736=) c.2268T>A (p.Gly756=) c.2259T>A (p.Gly753=) c.2178T>A (p.Gly726=) c.2127T>A (p.Gly709=) | |
| 14 | g.33800416T>C | CA486093123 | NPAS3 | c.2109T>C (p.Gly703=) c.2118T>C (p.Gly706=) c.2009T>C c.793+2835T>C c.2013T>C (p.Gly671=) c.2070T>C (p.Gly690=) c.2019T>C (p.Gly673=) c.2124T>C (p.Gly708=) c.2031T>C (p.Gly677=) c.2130T>C (p.Gly710=) c.2160T>C (p.Gly720=) c.2151T>C (p.Gly717=) c.2121T>C (p.Gly707=) c.2064T>C (p.Gly688=) c.2010T>C (p.Gly670=) c.1803T>C (p.Gly601=) c.2217T>C (p.Gly739=) c.2211T>C (p.Gly737=) c.2208T>C (p.Gly736=) c.2268T>C (p.Gly756=) c.2259T>C (p.Gly753=) c.2178T>C (p.Gly726=) c.2127T>C (p.Gly709=) | |
| 14 | g.33800416T>G | CA486093124 | NPAS3 | c.2109T>G (p.Gly703=) c.2118T>G (p.Gly706=) c.2009T>G c.793+2835T>G c.2013T>G (p.Gly671=) c.2070T>G (p.Gly690=) c.2019T>G (p.Gly673=) c.2124T>G (p.Gly708=) c.2031T>G (p.Gly677=) c.2130T>G (p.Gly710=) c.2160T>G (p.Gly720=) c.2151T>G (p.Gly717=) c.2121T>G (p.Gly707=) c.2064T>G (p.Gly688=) c.2010T>G (p.Gly670=) c.1803T>G (p.Gly601=) c.2217T>G (p.Gly739=) c.2211T>G (p.Gly737=) c.2208T>G (p.Gly736=) c.2268T>G (p.Gly756=) c.2259T>G (p.Gly753=) c.2178T>G (p.Gly726=) c.2127T>G (p.Gly709=) | dbSNP gnomAD v4 |
| 14 | g.33800417G>A | CA389413948 | NPAS3 | c.2110G>A (p.Gly704Ser) c.2119G>A (p.Gly707Ser) c.2010G>A c.793+2836G>A c.2014G>A (p.Gly672Ser) c.2071G>A (p.Gly691Ser) c.2020G>A (p.Gly674Ser) c.2125G>A (p.Gly709Ser) c.2032G>A (p.Gly678Ser) c.2131G>A (p.Gly711Ser) c.2161G>A (p.Gly721Ser) c.2152G>A (p.Gly718Ser) c.2122G>A (p.Gly708Ser) c.2065G>A (p.Gly689Ser) c.2011G>A (p.Gly671Ser) c.1804G>A (p.Gly602Ser) c.2218G>A (p.Gly740Ser) c.2212G>A (p.Gly738Ser) c.2209G>A (p.Gly737Ser) c.2269G>A (p.Gly757Ser) c.2260G>A (p.Gly754Ser) c.2179G>A (p.Gly727Ser) c.2128G>A (p.Gly710Ser) | gnomAD v4 |
| 14 | g.33800417G>C | CA389413950 | NPAS3 | c.2110G>C (p.Gly704Arg) c.2119G>C (p.Gly707Arg) c.2010G>C c.793+2836G>C c.2014G>C (p.Gly672Arg) c.2071G>C (p.Gly691Arg) c.2020G>C (p.Gly674Arg) c.2125G>C (p.Gly709Arg) c.2032G>C (p.Gly678Arg) c.2131G>C (p.Gly711Arg) c.2161G>C (p.Gly721Arg) c.2152G>C (p.Gly718Arg) c.2122G>C (p.Gly708Arg) c.2065G>C (p.Gly689Arg) c.2011G>C (p.Gly671Arg) c.1804G>C (p.Gly602Arg) c.2218G>C (p.Gly740Arg) c.2212G>C (p.Gly738Arg) c.2209G>C (p.Gly737Arg) c.2269G>C (p.Gly757Arg) c.2260G>C (p.Gly754Arg) c.2179G>C (p.Gly727Arg) c.2128G>C (p.Gly710Arg) | gnomAD v3 gnomAD v4 |
| 14 | g.33800417G>T | CA389413952 | NPAS3 | c.2110G>T (p.Gly704Cys) c.2119G>T (p.Gly707Cys) c.2010G>T c.793+2836G>T c.2014G>T (p.Gly672Cys) c.2071G>T (p.Gly691Cys) c.2020G>T (p.Gly674Cys) c.2125G>T (p.Gly709Cys) c.2032G>T (p.Gly678Cys) c.2131G>T (p.Gly711Cys) c.2161G>T (p.Gly721Cys) c.2152G>T (p.Gly718Cys) c.2122G>T (p.Gly708Cys) c.2065G>T (p.Gly689Cys) c.2011G>T (p.Gly671Cys) c.1804G>T (p.Gly602Cys) c.2218G>T (p.Gly740Cys) c.2212G>T (p.Gly738Cys) c.2209G>T (p.Gly737Cys) c.2269G>T (p.Gly757Cys) c.2260G>T (p.Gly754Cys) c.2179G>T (p.Gly727Cys) c.2128G>T (p.Gly710Cys) | |
| 14 | g.33800418G>A | CA7150945 | NPAS3 | c.2111G>A (p.Gly704Asp) c.2120G>A (p.Gly707Asp) c.2011G>A c.793+2837G>A c.2015G>A (p.Gly672Asp) c.2072G>A (p.Gly691Asp) c.2021G>A (p.Gly674Asp) c.2126G>A (p.Gly709Asp) c.2033G>A (p.Gly678Asp) c.2132G>A (p.Gly711Asp) c.2162G>A (p.Gly721Asp) c.2153G>A (p.Gly718Asp) c.2123G>A (p.Gly708Asp) c.2066G>A (p.Gly689Asp) c.2012G>A (p.Gly671Asp) c.1805G>A (p.Gly602Asp) c.2219G>A (p.Gly740Asp) c.2213G>A (p.Gly738Asp) c.2210G>A (p.Gly737Asp) c.2270G>A (p.Gly757Asp) c.2261G>A (p.Gly754Asp) c.2180G>A (p.Gly727Asp) c.2129G>A (p.Gly710Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800418G>C | CA389413955 | NPAS3 | c.2111G>C (p.Gly704Ala) c.2120G>C (p.Gly707Ala) c.2011G>C c.793+2837G>C c.2015G>C (p.Gly672Ala) c.2072G>C (p.Gly691Ala) c.2021G>C (p.Gly674Ala) c.2126G>C (p.Gly709Ala) c.2033G>C (p.Gly678Ala) c.2132G>C (p.Gly711Ala) c.2162G>C (p.Gly721Ala) c.2153G>C (p.Gly718Ala) c.2123G>C (p.Gly708Ala) c.2066G>C (p.Gly689Ala) c.2012G>C (p.Gly671Ala) c.1805G>C (p.Gly602Ala) c.2219G>C (p.Gly740Ala) c.2213G>C (p.Gly738Ala) c.2210G>C (p.Gly737Ala) c.2270G>C (p.Gly757Ala) c.2261G>C (p.Gly754Ala) c.2180G>C (p.Gly727Ala) c.2129G>C (p.Gly710Ala) | |
| 14 | g.33800418G= | CA2128327442 | NPAS3 | c.2111G= (p.Gly704=) c.2120G= (p.Gly707=) c.2011G= c.793+2837G= c.2015G= (p.Gly672=) c.2072G= (p.Gly691=) c.2021G= (p.Gly674=) c.2126G= (p.Gly709=) c.2033G= (p.Gly678=) c.2132G= (p.Gly711=) c.2162G= (p.Gly721=) c.2153G= (p.Gly718=) c.2123G= (p.Gly708=) c.2066G= (p.Gly689=) c.2012G= (p.Gly671=) c.1805G= (p.Gly602=) c.2219G= (p.Gly740=) c.2213G= (p.Gly738=) c.2210G= (p.Gly737=) c.2270G= (p.Gly757=) c.2261G= (p.Gly754=) c.2180G= (p.Gly727=) c.2129G= (p.Gly710=) | |
| 14 | g.33800418G>T | CA389413957 | NPAS3 | c.2111G>T (p.Gly704Val) c.2120G>T (p.Gly707Val) c.2011G>T c.793+2837G>T c.2015G>T (p.Gly672Val) c.2072G>T (p.Gly691Val) c.2021G>T (p.Gly674Val) c.2126G>T (p.Gly709Val) c.2033G>T (p.Gly678Val) c.2132G>T (p.Gly711Val) c.2162G>T (p.Gly721Val) c.2153G>T (p.Gly718Val) c.2123G>T (p.Gly708Val) c.2066G>T (p.Gly689Val) c.2012G>T (p.Gly671Val) c.1805G>T (p.Gly602Val) c.2219G>T (p.Gly740Val) c.2213G>T (p.Gly738Val) c.2210G>T (p.Gly737Val) c.2270G>T (p.Gly757Val) c.2261G>T (p.Gly754Val) c.2180G>T (p.Gly727Val) c.2129G>T (p.Gly710Val) | gnomAD v4 |
| 14 | g.33800419C>A | CA486093129 | NPAS3 | c.2112C>A (p.Gly704=) c.2121C>A (p.Gly707=) c.2012C>A c.793+2838C>A c.2016C>A (p.Gly672=) c.2073C>A (p.Gly691=) c.2022C>A (p.Gly674=) c.2127C>A (p.Gly709=) c.2034C>A (p.Gly678=) c.2133C>A (p.Gly711=) c.2163C>A (p.Gly721=) c.2154C>A (p.Gly718=) c.2124C>A (p.Gly708=) c.2067C>A (p.Gly689=) c.2013C>A (p.Gly671=) c.1806C>A (p.Gly602=) c.2220C>A (p.Gly740=) c.2214C>A (p.Gly738=) c.2211C>A (p.Gly737=) c.2271C>A (p.Gly757=) c.2262C>A (p.Gly754=) c.2181C>A (p.Gly727=) c.2130C>A (p.Gly710=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800419C= | CA2128327445 | NPAS3 | c.2112C= (p.Gly704=) c.2121C= (p.Gly707=) c.2012C= c.793+2838C= c.2016C= (p.Gly672=) c.2073C= (p.Gly691=) c.2022C= (p.Gly674=) c.2127C= (p.Gly709=) c.2034C= (p.Gly678=) c.2133C= (p.Gly711=) c.2163C= (p.Gly721=) c.2154C= (p.Gly718=) c.2124C= (p.Gly708=) c.2067C= (p.Gly689=) c.2013C= (p.Gly671=) c.1806C= (p.Gly602=) c.2220C= (p.Gly740=) c.2214C= (p.Gly738=) c.2211C= (p.Gly737=) c.2271C= (p.Gly757=) c.2262C= (p.Gly754=) c.2181C= (p.Gly727=) c.2130C= (p.Gly710=) | |
| 14 | g.33800419C>G | CA486093130 | NPAS3 | c.2112C>G (p.Gly704=) c.2121C>G (p.Gly707=) c.2012C>G c.793+2838C>G c.2016C>G (p.Gly672=) c.2073C>G (p.Gly691=) c.2022C>G (p.Gly674=) c.2127C>G (p.Gly709=) c.2034C>G (p.Gly678=) c.2133C>G (p.Gly711=) c.2163C>G (p.Gly721=) c.2154C>G (p.Gly718=) c.2124C>G (p.Gly708=) c.2067C>G (p.Gly689=) c.2013C>G (p.Gly671=) c.1806C>G (p.Gly602=) c.2220C>G (p.Gly740=) c.2214C>G (p.Gly738=) c.2211C>G (p.Gly737=) c.2271C>G (p.Gly757=) c.2262C>G (p.Gly754=) c.2181C>G (p.Gly727=) c.2130C>G (p.Gly710=) | dbSNP gnomAD v4 |
| 14 | g.33800419C>T | CA258719138 | NPAS3 | c.2112C>T (p.Gly704=) c.2121C>T (p.Gly707=) c.2012C>T c.793+2838C>T c.2016C>T (p.Gly672=) c.2073C>T (p.Gly691=) c.2022C>T (p.Gly674=) c.2127C>T (p.Gly709=) c.2034C>T (p.Gly678=) c.2133C>T (p.Gly711=) c.2163C>T (p.Gly721=) c.2154C>T (p.Gly718=) c.2124C>T (p.Gly708=) c.2067C>T (p.Gly689=) c.2013C>T (p.Gly671=) c.1806C>T (p.Gly602=) c.2220C>T (p.Gly740=) c.2214C>T (p.Gly738=) c.2211C>T (p.Gly737=) c.2271C>T (p.Gly757=) c.2262C>T (p.Gly754=) c.2181C>T (p.Gly727=) c.2130C>T (p.Gly710=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800420G>A | CA7150946 | NPAS3 | c.2113G>A (p.Gly705Arg) c.2122G>A (p.Gly708Arg) c.2013G>A c.793+2839G>A c.2017G>A (p.Gly673Arg) c.2074G>A (p.Gly692Arg) c.2023G>A (p.Gly675Arg) c.2128G>A (p.Gly710Arg) c.2035G>A (p.Gly679Arg) c.2134G>A (p.Gly712Arg) c.2164G>A (p.Gly722Arg) c.2155G>A (p.Gly719Arg) c.2125G>A (p.Gly709Arg) c.2068G>A (p.Gly690Arg) c.2014G>A (p.Gly672Arg) c.1807G>A (p.Gly603Arg) c.2221G>A (p.Gly741Arg) c.2215G>A (p.Gly739Arg) c.2212G>A (p.Gly738Arg) c.2272G>A (p.Gly758Arg) c.2263G>A (p.Gly755Arg) c.2182G>A (p.Gly728Arg) c.2131G>A (p.Gly711Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800420G>C | CA389413962 | NPAS3 | c.2113G>C (p.Gly705Arg) c.2122G>C (p.Gly708Arg) c.2013G>C c.793+2839G>C c.2017G>C (p.Gly673Arg) c.2074G>C (p.Gly692Arg) c.2023G>C (p.Gly675Arg) c.2128G>C (p.Gly710Arg) c.2035G>C (p.Gly679Arg) c.2134G>C (p.Gly712Arg) c.2164G>C (p.Gly722Arg) c.2155G>C (p.Gly719Arg) c.2125G>C (p.Gly709Arg) c.2068G>C (p.Gly690Arg) c.2014G>C (p.Gly672Arg) c.1807G>C (p.Gly603Arg) c.2221G>C (p.Gly741Arg) c.2215G>C (p.Gly739Arg) c.2212G>C (p.Gly738Arg) c.2272G>C (p.Gly758Arg) c.2263G>C (p.Gly755Arg) c.2182G>C (p.Gly728Arg) c.2131G>C (p.Gly711Arg) | |
| 14 | g.33800420G= | CA2128327448 | NPAS3 | c.2113G= (p.Gly705=) c.2122G= (p.Gly708=) c.2013G= c.793+2839G= c.2017G= (p.Gly673=) c.2074G= (p.Gly692=) c.2023G= (p.Gly675=) c.2128G= (p.Gly710=) c.2035G= (p.Gly679=) c.2134G= (p.Gly712=) c.2164G= (p.Gly722=) c.2155G= (p.Gly719=) c.2125G= (p.Gly709=) c.2068G= (p.Gly690=) c.2014G= (p.Gly672=) c.1807G= (p.Gly603=) c.2221G= (p.Gly741=) c.2215G= (p.Gly739=) c.2212G= (p.Gly738=) c.2272G= (p.Gly758=) c.2263G= (p.Gly755=) c.2182G= (p.Gly728=) c.2131G= (p.Gly711=) | |
| 14 | g.33800420G>T | CA389413960 | NPAS3 | c.2113G>T (p.Gly705Trp) c.2122G>T (p.Gly708Trp) c.2013G>T c.793+2839G>T c.2017G>T (p.Gly673Trp) c.2074G>T (p.Gly692Trp) c.2023G>T (p.Gly675Trp) c.2128G>T (p.Gly710Trp) c.2035G>T (p.Gly679Trp) c.2134G>T (p.Gly712Trp) c.2164G>T (p.Gly722Trp) c.2155G>T (p.Gly719Trp) c.2125G>T (p.Gly709Trp) c.2068G>T (p.Gly690Trp) c.2014G>T (p.Gly672Trp) c.1807G>T (p.Gly603Trp) c.2221G>T (p.Gly741Trp) c.2215G>T (p.Gly739Trp) c.2212G>T (p.Gly738Trp) c.2272G>T (p.Gly758Trp) c.2263G>T (p.Gly755Trp) c.2182G>T (p.Gly728Trp) c.2131G>T (p.Gly711Trp) | |
| 14 | g.33800425dup | CA613803864 | NPAS3 | c.2118dup (p.Leu707AlafsTer?) c.2127dup (p.Leu710AlafsTer?) c.2018dup c.793+2844dup c.2022dup (p.Leu675AlafsTer?) c.2079dup (p.Leu694AlafsTer?) c.2028dup (p.Leu677AlafsTer?) c.2133dup (p.Leu712AlafsTer?) c.2040dup (p.Leu681AlafsTer?) c.2139dup (p.Leu714AlafsTer?) c.2169dup (p.Leu724AlafsTer?) c.2160dup (p.Leu721AlafsTer?) c.2130dup (p.Leu711AlafsTer?) c.2073dup (p.Leu692AlafsTer?) c.2019dup (p.Leu674AlafsTer?) c.1812dup (p.Leu605AlafsTer?) c.2226dup (p.Leu743AlafsTer?) c.2220dup (p.Leu741AlafsTer?) c.2217dup (p.Leu740AlafsTer?) c.2277dup (p.Leu760AlafsTer?) c.2268dup (p.Leu757AlafsTer?) c.2187dup (p.Leu730AlafsTer?) c.2136dup (p.Leu713AlafsTer?) | gnomAD v2 gnomAD v4 |
| 14 | g.33800425del | CA645582790 | NPAS3 | c.2118del (p.Leu707CysfsTer?) c.2127del (p.Leu710CysfsTer?) c.2018del c.793+2844del c.2022del (p.Leu675CysfsTer?) c.2079del (p.Leu694CysfsTer?) c.2028del (p.Leu677CysfsTer?) c.2133del (p.Leu712CysfsTer?) c.2040del (p.Leu681CysfsTer?) c.2139del (p.Leu714CysfsTer?) c.2169del (p.Leu724CysfsTer?) c.2160del (p.Leu721CysfsTer?) c.2130del (p.Leu711CysfsTer?) c.2073del (p.Leu692CysfsTer?) c.2019del (p.Leu674CysfsTer?) c.1812del (p.Leu605CysfsTer?) c.2226del (p.Leu743CysfsTer?) c.2220del (p.Leu741CysfsTer?) c.2217del (p.Leu740CysfsTer?) c.2277del (p.Leu760CysfsTer?) c.2268del (p.Leu757CysfsTer?) c.2187del (p.Leu730CysfsTer?) c.2136del (p.Leu713CysfsTer?) | gnomAD v4 COSMIC |
| 14 | g.33800421G>A | CA389413967 | NPAS3 | c.2114G>A (p.Gly705Glu) c.2123G>A (p.Gly708Glu) c.2014G>A c.793+2840G>A c.2018G>A (p.Gly673Glu) c.2075G>A (p.Gly692Glu) c.2024G>A (p.Gly675Glu) c.2129G>A (p.Gly710Glu) c.2036G>A (p.Gly679Glu) c.2135G>A (p.Gly712Glu) c.2165G>A (p.Gly722Glu) c.2156G>A (p.Gly719Glu) c.2126G>A (p.Gly709Glu) c.2069G>A (p.Gly690Glu) c.2015G>A (p.Gly672Glu) c.1808G>A (p.Gly603Glu) c.2222G>A (p.Gly741Glu) c.2216G>A (p.Gly739Glu) c.2213G>A (p.Gly738Glu) c.2273G>A (p.Gly758Glu) c.2264G>A (p.Gly755Glu) c.2183G>A (p.Gly728Glu) c.2132G>A (p.Gly711Glu) | gnomAD v4 |
| 14 | g.33800421G>C | CA7150947 | NPAS3 | c.2114G>C (p.Gly705Ala) c.2123G>C (p.Gly708Ala) c.2014G>C c.793+2840G>C c.2018G>C (p.Gly673Ala) c.2075G>C (p.Gly692Ala) c.2024G>C (p.Gly675Ala) c.2129G>C (p.Gly710Ala) c.2036G>C (p.Gly679Ala) c.2135G>C (p.Gly712Ala) c.2165G>C (p.Gly722Ala) c.2156G>C (p.Gly719Ala) c.2126G>C (p.Gly709Ala) c.2069G>C (p.Gly690Ala) c.2015G>C (p.Gly672Ala) c.1808G>C (p.Gly603Ala) c.2222G>C (p.Gly741Ala) c.2216G>C (p.Gly739Ala) c.2213G>C (p.Gly738Ala) c.2273G>C (p.Gly758Ala) c.2264G>C (p.Gly755Ala) c.2183G>C (p.Gly728Ala) c.2132G>C (p.Gly711Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800421G= | CA2128327450 | NPAS3 | c.2114G= (p.Gly705=) c.2123G= (p.Gly708=) c.2014G= c.793+2840G= c.2018G= (p.Gly673=) c.2075G= (p.Gly692=) c.2024G= (p.Gly675=) c.2129G= (p.Gly710=) c.2036G= (p.Gly679=) c.2135G= (p.Gly712=) c.2165G= (p.Gly722=) c.2156G= (p.Gly719=) c.2126G= (p.Gly709=) c.2069G= (p.Gly690=) c.2015G= (p.Gly672=) c.1808G= (p.Gly603=) c.2222G= (p.Gly741=) c.2216G= (p.Gly739=) c.2213G= (p.Gly738=) c.2273G= (p.Gly758=) c.2264G= (p.Gly755=) c.2183G= (p.Gly728=) c.2132G= (p.Gly711=) | |
| 14 | g.33800421G>T | CA389413965 | NPAS3 | c.2114G>T (p.Gly705Val) c.2123G>T (p.Gly708Val) c.2014G>T c.793+2840G>T c.2018G>T (p.Gly673Val) c.2075G>T (p.Gly692Val) c.2024G>T (p.Gly675Val) c.2129G>T (p.Gly710Val) c.2036G>T (p.Gly679Val) c.2135G>T (p.Gly712Val) c.2165G>T (p.Gly722Val) c.2156G>T (p.Gly719Val) c.2126G>T (p.Gly709Val) c.2069G>T (p.Gly690Val) c.2015G>T (p.Gly672Val) c.1808G>T (p.Gly603Val) c.2222G>T (p.Gly741Val) c.2216G>T (p.Gly739Val) c.2213G>T (p.Gly738Val) c.2273G>T (p.Gly758Val) c.2264G>T (p.Gly755Val) c.2183G>T (p.Gly728Val) c.2132G>T (p.Gly711Val) | |
| 14 | g.33800422G>A | CA7150948 | NPAS3 | c.2115G>A (p.Gly705=) c.2124G>A (p.Gly708=) c.2015G>A c.793+2841G>A c.2019G>A (p.Gly673=) c.2076G>A (p.Gly692=) c.2025G>A (p.Gly675=) c.2130G>A (p.Gly710=) c.2037G>A (p.Gly679=) c.2136G>A (p.Gly712=) c.2166G>A (p.Gly722=) c.2157G>A (p.Gly719=) c.2127G>A (p.Gly709=) c.2070G>A (p.Gly690=) c.2016G>A (p.Gly672=) c.1809G>A (p.Gly603=) c.2223G>A (p.Gly741=) c.2217G>A (p.Gly739=) c.2214G>A (p.Gly738=) c.2274G>A (p.Gly758=) c.2265G>A (p.Gly755=) c.2184G>A (p.Gly728=) c.2133G>A (p.Gly711=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800422G>C | CA486093132 | NPAS3 | c.2115G>C (p.Gly705=) c.2124G>C (p.Gly708=) c.2015G>C c.793+2841G>C c.2019G>C (p.Gly673=) c.2076G>C (p.Gly692=) c.2025G>C (p.Gly675=) c.2130G>C (p.Gly710=) c.2037G>C (p.Gly679=) c.2136G>C (p.Gly712=) c.2166G>C (p.Gly722=) c.2157G>C (p.Gly719=) c.2127G>C (p.Gly709=) c.2070G>C (p.Gly690=) c.2016G>C (p.Gly672=) c.1809G>C (p.Gly603=) c.2223G>C (p.Gly741=) c.2217G>C (p.Gly739=) c.2214G>C (p.Gly738=) c.2274G>C (p.Gly758=) c.2265G>C (p.Gly755=) c.2184G>C (p.Gly728=) c.2133G>C (p.Gly711=) | |
| 14 | g.33800422G= | CA2128327453 | NPAS3 | c.2115G= (p.Gly705=) c.2124G= (p.Gly708=) c.2015G= c.793+2841G= c.2019G= (p.Gly673=) c.2076G= (p.Gly692=) c.2025G= (p.Gly675=) c.2130G= (p.Gly710=) c.2037G= (p.Gly679=) c.2136G= (p.Gly712=) c.2166G= (p.Gly722=) c.2157G= (p.Gly719=) c.2127G= (p.Gly709=) c.2070G= (p.Gly690=) c.2016G= (p.Gly672=) c.1809G= (p.Gly603=) c.2223G= (p.Gly741=) c.2217G= (p.Gly739=) c.2214G= (p.Gly738=) c.2274G= (p.Gly758=) c.2265G= (p.Gly755=) c.2184G= (p.Gly728=) c.2133G= (p.Gly711=) | |
| 14 | g.33800422G>T | CA486093134 | NPAS3 | c.2115G>T (p.Gly705=) c.2124G>T (p.Gly708=) c.2015G>T c.793+2841G>T c.2019G>T (p.Gly673=) c.2076G>T (p.Gly692=) c.2025G>T (p.Gly675=) c.2130G>T (p.Gly710=) c.2037G>T (p.Gly679=) c.2136G>T (p.Gly712=) c.2166G>T (p.Gly722=) c.2157G>T (p.Gly719=) c.2127G>T (p.Gly709=) c.2070G>T (p.Gly690=) c.2016G>T (p.Gly672=) c.1809G>T (p.Gly603=) c.2223G>T (p.Gly741=) c.2217G>T (p.Gly739=) c.2214G>T (p.Gly738=) c.2274G>T (p.Gly758=) c.2265G>T (p.Gly755=) c.2184G>T (p.Gly728=) c.2133G>T (p.Gly711=) | dbSNP |
| 14 | g.33800423G>A | CA389413970 | NPAS3 | c.2116G>A (p.Gly706Arg) c.2125G>A (p.Gly709Arg) c.2016G>A c.793+2842G>A c.2020G>A (p.Gly674Arg) c.2077G>A (p.Gly693Arg) c.2026G>A (p.Gly676Arg) c.2131G>A (p.Gly711Arg) c.2038G>A (p.Gly680Arg) c.2137G>A (p.Gly713Arg) c.2167G>A (p.Gly723Arg) c.2158G>A (p.Gly720Arg) c.2128G>A (p.Gly710Arg) c.2071G>A (p.Gly691Arg) c.2017G>A (p.Gly673Arg) c.1810G>A (p.Gly604Arg) c.2224G>A (p.Gly742Arg) c.2218G>A (p.Gly740Arg) c.2215G>A (p.Gly739Arg) c.2275G>A (p.Gly759Arg) c.2266G>A (p.Gly756Arg) c.2185G>A (p.Gly729Arg) c.2134G>A (p.Gly712Arg) | gnomAD v4 |
| 14 | g.33800423G>C | CA389413972 | NPAS3 | c.2116G>C (p.Gly706Arg) c.2125G>C (p.Gly709Arg) c.2016G>C c.793+2842G>C c.2020G>C (p.Gly674Arg) c.2077G>C (p.Gly693Arg) c.2026G>C (p.Gly676Arg) c.2131G>C (p.Gly711Arg) c.2038G>C (p.Gly680Arg) c.2137G>C (p.Gly713Arg) c.2167G>C (p.Gly723Arg) c.2158G>C (p.Gly720Arg) c.2128G>C (p.Gly710Arg) c.2071G>C (p.Gly691Arg) c.2017G>C (p.Gly673Arg) c.1810G>C (p.Gly604Arg) c.2224G>C (p.Gly742Arg) c.2218G>C (p.Gly740Arg) c.2215G>C (p.Gly739Arg) c.2275G>C (p.Gly759Arg) c.2266G>C (p.Gly756Arg) c.2185G>C (p.Gly729Arg) c.2134G>C (p.Gly712Arg) | |
| 14 | g.33800423G>T | CA389413974 | NPAS3 | c.2116G>T (p.Gly706Trp) c.2125G>T (p.Gly709Trp) c.2016G>T c.793+2842G>T c.2020G>T (p.Gly674Trp) c.2077G>T (p.Gly693Trp) c.2026G>T (p.Gly676Trp) c.2131G>T (p.Gly711Trp) c.2038G>T (p.Gly680Trp) c.2137G>T (p.Gly713Trp) c.2167G>T (p.Gly723Trp) c.2158G>T (p.Gly720Trp) c.2128G>T (p.Gly710Trp) c.2071G>T (p.Gly691Trp) c.2017G>T (p.Gly673Trp) c.1810G>T (p.Gly604Trp) c.2224G>T (p.Gly742Trp) c.2218G>T (p.Gly740Trp) c.2215G>T (p.Gly739Trp) c.2275G>T (p.Gly759Trp) c.2266G>T (p.Gly756Trp) c.2185G>T (p.Gly729Trp) c.2134G>T (p.Gly712Trp) | gnomAD v4 |
| 14 | g.33800424G>A | CA7150949 | NPAS3 | c.2117G>A (p.Gly706Glu) c.2126G>A (p.Gly709Glu) c.2017G>A c.793+2843G>A c.2021G>A (p.Gly674Glu) c.2078G>A (p.Gly693Glu) c.2027G>A (p.Gly676Glu) c.2132G>A (p.Gly711Glu) c.2039G>A (p.Gly680Glu) c.2138G>A (p.Gly713Glu) c.2168G>A (p.Gly723Glu) c.2159G>A (p.Gly720Glu) c.2129G>A (p.Gly710Glu) c.2072G>A (p.Gly691Glu) c.2018G>A (p.Gly673Glu) c.1811G>A (p.Gly604Glu) c.2225G>A (p.Gly742Glu) c.2219G>A (p.Gly740Glu) c.2216G>A (p.Gly739Glu) c.2276G>A (p.Gly759Glu) c.2267G>A (p.Gly756Glu) c.2186G>A (p.Gly729Glu) c.2135G>A (p.Gly712Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800424G>C | CA389413976 | NPAS3 | c.2117G>C (p.Gly706Ala) c.2126G>C (p.Gly709Ala) c.2017G>C c.793+2843G>C c.2021G>C (p.Gly674Ala) c.2078G>C (p.Gly693Ala) c.2027G>C (p.Gly676Ala) c.2132G>C (p.Gly711Ala) c.2039G>C (p.Gly680Ala) c.2138G>C (p.Gly713Ala) c.2168G>C (p.Gly723Ala) c.2159G>C (p.Gly720Ala) c.2129G>C (p.Gly710Ala) c.2072G>C (p.Gly691Ala) c.2018G>C (p.Gly673Ala) c.1811G>C (p.Gly604Ala) c.2225G>C (p.Gly742Ala) c.2219G>C (p.Gly740Ala) c.2216G>C (p.Gly739Ala) c.2276G>C (p.Gly759Ala) c.2267G>C (p.Gly756Ala) c.2186G>C (p.Gly729Ala) c.2135G>C (p.Gly712Ala) | dbSNP |
| 14 | g.33800424G= | CA2128327463 | NPAS3 | c.2117G= (p.Gly706=) c.2126G= (p.Gly709=) c.2017G= c.793+2843G= c.2021G= (p.Gly674=) c.2078G= (p.Gly693=) c.2027G= (p.Gly676=) c.2132G= (p.Gly711=) c.2039G= (p.Gly680=) c.2138G= (p.Gly713=) c.2168G= (p.Gly723=) c.2159G= (p.Gly720=) c.2129G= (p.Gly710=) c.2072G= (p.Gly691=) c.2018G= (p.Gly673=) c.1811G= (p.Gly604=) c.2225G= (p.Gly742=) c.2219G= (p.Gly740=) c.2216G= (p.Gly739=) c.2276G= (p.Gly759=) c.2267G= (p.Gly756=) c.2186G= (p.Gly729=) c.2135G= (p.Gly712=) | |
| 14 | g.33800424G>T | CA389413978 | NPAS3 | c.2117G>T (p.Gly706Val) c.2126G>T (p.Gly709Val) c.2017G>T c.793+2843G>T c.2021G>T (p.Gly674Val) c.2078G>T (p.Gly693Val) c.2027G>T (p.Gly676Val) c.2132G>T (p.Gly711Val) c.2039G>T (p.Gly680Val) c.2138G>T (p.Gly713Val) c.2168G>T (p.Gly723Val) c.2159G>T (p.Gly720Val) c.2129G>T (p.Gly710Val) c.2072G>T (p.Gly691Val) c.2018G>T (p.Gly673Val) c.1811G>T (p.Gly604Val) c.2225G>T (p.Gly742Val) c.2219G>T (p.Gly740Val) c.2216G>T (p.Gly739Val) c.2276G>T (p.Gly759Val) c.2267G>T (p.Gly756Val) c.2186G>T (p.Gly729Val) c.2135G>T (p.Gly712Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800425G>A | CA486093138 | NPAS3 | c.2118G>A (p.Gly706=) c.2127G>A (p.Gly709=) c.2018G>A c.793+2844G>A c.2022G>A (p.Gly674=) c.2079G>A (p.Gly693=) c.2028G>A (p.Gly676=) c.2133G>A (p.Gly711=) c.2040G>A (p.Gly680=) c.2139G>A (p.Gly713=) c.2169G>A (p.Gly723=) c.2160G>A (p.Gly720=) c.2130G>A (p.Gly710=) c.2073G>A (p.Gly691=) c.2019G>A (p.Gly673=) c.1812G>A (p.Gly604=) c.2226G>A (p.Gly742=) c.2220G>A (p.Gly740=) c.2217G>A (p.Gly739=) c.2277G>A (p.Gly759=) c.2268G>A (p.Gly756=) c.2187G>A (p.Gly729=) c.2136G>A (p.Gly712=) | dbSNP gnomAD v4 |
| 14 | g.33800425G>C | CA486093139 | NPAS3 | c.2118G>C (p.Gly706=) c.2127G>C (p.Gly709=) c.2018G>C c.793+2844G>C c.2022G>C (p.Gly674=) c.2079G>C (p.Gly693=) c.2028G>C (p.Gly676=) c.2133G>C (p.Gly711=) c.2040G>C (p.Gly680=) c.2139G>C (p.Gly713=) c.2169G>C (p.Gly723=) c.2160G>C (p.Gly720=) c.2130G>C (p.Gly710=) c.2073G>C (p.Gly691=) c.2019G>C (p.Gly673=) c.1812G>C (p.Gly604=) c.2226G>C (p.Gly742=) c.2220G>C (p.Gly740=) c.2217G>C (p.Gly739=) c.2277G>C (p.Gly759=) c.2268G>C (p.Gly756=) c.2187G>C (p.Gly729=) c.2136G>C (p.Gly712=) | gnomAD v4 |