| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.33800513_33800521del | CA2575504026 | NPAS3 | c.2206_2214del (p.Thr736_Ala738del) c.2215_2223del (p.Thr739_Ala741del) c.2106_2114del c.793+2932_793+2940del c.2110_2118del (p.Thr704_Ala706del) c.2167_2175del (p.Thr723_Ala725del) c.2116_2124del (p.Thr706_Ala708del) c.2221_2229del (p.Thr741_Ala743del) c.2128_2136del (p.Thr710_Ala712del) c.2227_2235del (p.Thr743_Ala745del) c.2257_2265del (p.Thr753_Ala755del) c.2248_2256del (p.Thr750_Ala752del) c.2218_2226del (p.Thr740_Ala742del) c.2161_2169del (p.Thr721_Ala723del) c.2107_2115del (p.Thr703_Ala705del) c.1900_1908del (p.Thr634_Ala636del) c.2314_2322del (p.Thr772_Ala774del) c.2308_2316del (p.Thr770_Ala772del) c.2305_2313del (p.Thr769_Ala771del) c.2365_2373del (p.Thr789_Ala791del) c.2356_2364del (p.Thr786_Ala788del) c.2275_2283del (p.Thr759_Ala761del) c.2224_2232del (p.Thr742_Ala744del) | gnomAD v4 |
| 14 | g.33800517_33800531dup | CA258719220 | NPAS3 | c.2210_2224dup (p.Pro741_Val742insAlaAlaLeuAlaPro) c.2219_2233dup (p.Pro744_Val745insAlaAlaLeuAlaPro) c.2110_2124dup c.793+2936_793+2950dup c.2114_2128dup (p.Pro709_Val710insAlaAlaLeuAlaPro) c.2171_2185dup (p.Pro728_Val729insAlaAlaLeuAlaPro) c.2120_2134dup (p.Pro711_Val712insAlaAlaLeuAlaPro) c.2225_2239dup (p.Pro746_Val747insAlaAlaLeuAlaPro) c.2132_2146dup (p.Pro715_Val716insAlaAlaLeuAlaPro) c.2231_2245dup (p.Pro748_Val749insAlaAlaLeuAlaPro) c.2261_2275dup (p.Pro758_Val759insAlaAlaLeuAlaPro) c.2252_2266dup (p.Pro755_Val756insAlaAlaLeuAlaPro) c.2222_2236dup (p.Pro745_Val746insAlaAlaLeuAlaPro) c.2165_2179dup (p.Pro726_Val727insAlaAlaLeuAlaPro) c.2111_2125dup (p.Pro708_Val709insAlaAlaLeuAlaPro) c.1904_1918dup (p.Pro639_Val640insAlaAlaLeuAlaPro) c.2318_2332dup (p.Pro777_Val778insAlaAlaLeuAlaPro) c.2312_2326dup (p.Pro775_Val776insAlaAlaLeuAlaPro) c.2309_2323dup (p.Pro774_Val775insAlaAlaLeuAlaPro) c.2369_2383dup (p.Pro794_Val795insAlaAlaLeuAlaPro) c.2360_2374dup (p.Pro791_Val792insAlaAlaLeuAlaPro) c.2279_2293dup (p.Pro764_Val765insAlaAlaLeuAlaPro) c.2228_2242dup (p.Pro747_Val748insAlaAlaLeuAlaPro) | dbSNP |
| 14 | g.33800515C>A | CA486093296 | NPAS3 | c.2208C>A (p.Thr736=) c.2217C>A (p.Thr739=) c.2108C>A c.793+2934C>A c.2112C>A (p.Thr704=) c.2169C>A (p.Thr723=) c.2118C>A (p.Thr706=) c.2223C>A (p.Thr741=) c.2130C>A (p.Thr710=) c.2229C>A (p.Thr743=) c.2259C>A (p.Thr753=) c.2250C>A (p.Thr750=) c.2220C>A (p.Thr740=) c.2163C>A (p.Thr721=) c.2109C>A (p.Thr703=) c.1902C>A (p.Thr634=) c.2316C>A (p.Thr772=) c.2310C>A (p.Thr770=) c.2307C>A (p.Thr769=) c.2367C>A (p.Thr789=) c.2358C>A (p.Thr786=) c.2277C>A (p.Thr759=) c.2226C>A (p.Thr742=) | dbSNP gnomAD v4 |
| 14 | g.33800515C= | CA2128327663 | NPAS3 | c.2208C= (p.Thr736=) c.2217C= (p.Thr739=) c.2108C= c.793+2934C= c.2112C= (p.Thr704=) c.2169C= (p.Thr723=) c.2118C= (p.Thr706=) c.2223C= (p.Thr741=) c.2130C= (p.Thr710=) c.2229C= (p.Thr743=) c.2259C= (p.Thr753=) c.2250C= (p.Thr750=) c.2220C= (p.Thr740=) c.2163C= (p.Thr721=) c.2109C= (p.Thr703=) c.1902C= (p.Thr634=) c.2316C= (p.Thr772=) c.2310C= (p.Thr770=) c.2307C= (p.Thr769=) c.2367C= (p.Thr789=) c.2358C= (p.Thr786=) c.2277C= (p.Thr759=) c.2226C= (p.Thr742=) | |
| 14 | g.33800515C>G | CA486093297 | NPAS3 | c.2208C>G (p.Thr736=) c.2217C>G (p.Thr739=) c.2108C>G c.793+2934C>G c.2112C>G (p.Thr704=) c.2169C>G (p.Thr723=) c.2118C>G (p.Thr706=) c.2223C>G (p.Thr741=) c.2130C>G (p.Thr710=) c.2229C>G (p.Thr743=) c.2259C>G (p.Thr753=) c.2250C>G (p.Thr750=) c.2220C>G (p.Thr740=) c.2163C>G (p.Thr721=) c.2109C>G (p.Thr703=) c.1902C>G (p.Thr634=) c.2316C>G (p.Thr772=) c.2310C>G (p.Thr770=) c.2307C>G (p.Thr769=) c.2367C>G (p.Thr789=) c.2358C>G (p.Thr786=) c.2277C>G (p.Thr759=) c.2226C>G (p.Thr742=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800515C>T | CA7150963 | NPAS3 | c.2208C>T (p.Thr736=) c.2217C>T (p.Thr739=) c.2108C>T c.793+2934C>T c.2112C>T (p.Thr704=) c.2169C>T (p.Thr723=) c.2118C>T (p.Thr706=) c.2223C>T (p.Thr741=) c.2130C>T (p.Thr710=) c.2229C>T (p.Thr743=) c.2259C>T (p.Thr753=) c.2250C>T (p.Thr750=) c.2220C>T (p.Thr740=) c.2163C>T (p.Thr721=) c.2109C>T (p.Thr703=) c.1902C>T (p.Thr634=) c.2316C>T (p.Thr772=) c.2310C>T (p.Thr770=) c.2307C>T (p.Thr769=) c.2367C>T (p.Thr789=) c.2358C>T (p.Thr786=) c.2277C>T (p.Thr759=) c.2226C>T (p.Thr742=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800516G>A | CA389414206 | NPAS3 | c.2209G>A (p.Ala737Thr) c.2218G>A (p.Ala740Thr) c.2109G>A c.793+2935G>A c.2113G>A (p.Ala705Thr) c.2170G>A (p.Ala724Thr) c.2119G>A (p.Ala707Thr) c.2224G>A (p.Ala742Thr) c.2131G>A (p.Ala711Thr) c.2230G>A (p.Ala744Thr) c.2260G>A (p.Ala754Thr) c.2251G>A (p.Ala751Thr) c.2221G>A (p.Ala741Thr) c.2164G>A (p.Ala722Thr) c.2110G>A (p.Ala704Thr) c.1903G>A (p.Ala635Thr) c.2317G>A (p.Ala773Thr) c.2311G>A (p.Ala771Thr) c.2308G>A (p.Ala770Thr) c.2368G>A (p.Ala790Thr) c.2359G>A (p.Ala787Thr) c.2278G>A (p.Ala760Thr) c.2227G>A (p.Ala743Thr) | dbSNP gnomAD v4 |
| 14 | g.33800516G>C | CA389414207 | NPAS3 | c.2209G>C (p.Ala737Pro) c.2218G>C (p.Ala740Pro) c.2109G>C c.793+2935G>C c.2113G>C (p.Ala705Pro) c.2170G>C (p.Ala724Pro) c.2119G>C (p.Ala707Pro) c.2224G>C (p.Ala742Pro) c.2131G>C (p.Ala711Pro) c.2230G>C (p.Ala744Pro) c.2260G>C (p.Ala754Pro) c.2251G>C (p.Ala751Pro) c.2221G>C (p.Ala741Pro) c.2164G>C (p.Ala722Pro) c.2110G>C (p.Ala704Pro) c.1903G>C (p.Ala635Pro) c.2317G>C (p.Ala773Pro) c.2311G>C (p.Ala771Pro) c.2308G>C (p.Ala770Pro) c.2368G>C (p.Ala790Pro) c.2359G>C (p.Ala787Pro) c.2278G>C (p.Ala760Pro) c.2227G>C (p.Ala743Pro) | gnomAD v4 |
| 14 | g.33800516G= | CA2128327671 | NPAS3 | c.2209G= (p.Ala737=) c.2218G= (p.Ala740=) c.2109G= c.793+2935G= c.2113G= (p.Ala705=) c.2170G= (p.Ala724=) c.2119G= (p.Ala707=) c.2224G= (p.Ala742=) c.2131G= (p.Ala711=) c.2230G= (p.Ala744=) c.2260G= (p.Ala754=) c.2251G= (p.Ala751=) c.2221G= (p.Ala741=) c.2164G= (p.Ala722=) c.2110G= (p.Ala704=) c.1903G= (p.Ala635=) c.2317G= (p.Ala773=) c.2311G= (p.Ala771=) c.2308G= (p.Ala770=) c.2368G= (p.Ala790=) c.2359G= (p.Ala787=) c.2278G= (p.Ala760=) c.2227G= (p.Ala743=) | |
| 14 | g.33800516G>T | CA389414208 | NPAS3 | c.2209G>T (p.Ala737Ser) c.2218G>T (p.Ala740Ser) c.2109G>T c.793+2935G>T c.2113G>T (p.Ala705Ser) c.2170G>T (p.Ala724Ser) c.2119G>T (p.Ala707Ser) c.2224G>T (p.Ala742Ser) c.2131G>T (p.Ala711Ser) c.2230G>T (p.Ala744Ser) c.2260G>T (p.Ala754Ser) c.2251G>T (p.Ala751Ser) c.2221G>T (p.Ala741Ser) c.2164G>T (p.Ala722Ser) c.2110G>T (p.Ala704Ser) c.1903G>T (p.Ala635Ser) c.2317G>T (p.Ala773Ser) c.2311G>T (p.Ala771Ser) c.2308G>T (p.Ala770Ser) c.2368G>T (p.Ala790Ser) c.2359G>T (p.Ala787Ser) c.2278G>T (p.Ala760Ser) c.2227G>T (p.Ala743Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800517C>A | CA389414209 | NPAS3 | c.2210C>A (p.Ala737Glu) c.2219C>A (p.Ala740Glu) c.2110C>A c.793+2936C>A c.2114C>A (p.Ala705Glu) c.2171C>A (p.Ala724Glu) c.2120C>A (p.Ala707Glu) c.2225C>A (p.Ala742Glu) c.2132C>A (p.Ala711Glu) c.2231C>A (p.Ala744Glu) c.2261C>A (p.Ala754Glu) c.2252C>A (p.Ala751Glu) c.2222C>A (p.Ala741Glu) c.2165C>A (p.Ala722Glu) c.2111C>A (p.Ala704Glu) c.1904C>A (p.Ala635Glu) c.2318C>A (p.Ala773Glu) c.2312C>A (p.Ala771Glu) c.2309C>A (p.Ala770Glu) c.2369C>A (p.Ala790Glu) c.2360C>A (p.Ala787Glu) c.2279C>A (p.Ala760Glu) c.2228C>A (p.Ala743Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800517C= | CA2128327675 | NPAS3 | c.2210C= (p.Ala737=) c.2219C= (p.Ala740=) c.2110C= c.793+2936C= c.2114C= (p.Ala705=) c.2171C= (p.Ala724=) c.2120C= (p.Ala707=) c.2225C= (p.Ala742=) c.2132C= (p.Ala711=) c.2231C= (p.Ala744=) c.2261C= (p.Ala754=) c.2252C= (p.Ala751=) c.2222C= (p.Ala741=) c.2165C= (p.Ala722=) c.2111C= (p.Ala704=) c.1904C= (p.Ala635=) c.2318C= (p.Ala773=) c.2312C= (p.Ala771=) c.2309C= (p.Ala770=) c.2369C= (p.Ala790=) c.2360C= (p.Ala787=) c.2279C= (p.Ala760=) c.2228C= (p.Ala743=) | |
| 14 | g.33800517C>G | CA389414210 | NPAS3 | c.2210C>G (p.Ala737Gly) c.2219C>G (p.Ala740Gly) c.2110C>G c.793+2936C>G c.2114C>G (p.Ala705Gly) c.2171C>G (p.Ala724Gly) c.2120C>G (p.Ala707Gly) c.2225C>G (p.Ala742Gly) c.2132C>G (p.Ala711Gly) c.2231C>G (p.Ala744Gly) c.2261C>G (p.Ala754Gly) c.2252C>G (p.Ala751Gly) c.2222C>G (p.Ala741Gly) c.2165C>G (p.Ala722Gly) c.2111C>G (p.Ala704Gly) c.1904C>G (p.Ala635Gly) c.2318C>G (p.Ala773Gly) c.2312C>G (p.Ala771Gly) c.2309C>G (p.Ala770Gly) c.2369C>G (p.Ala790Gly) c.2360C>G (p.Ala787Gly) c.2279C>G (p.Ala760Gly) c.2228C>G (p.Ala743Gly) | |
| 14 | g.33800517C>T | CA389414211 | NPAS3 | c.2210C>T (p.Ala737Val) c.2219C>T (p.Ala740Val) c.2110C>T c.793+2936C>T c.2114C>T (p.Ala705Val) c.2171C>T (p.Ala724Val) c.2120C>T (p.Ala707Val) c.2225C>T (p.Ala742Val) c.2132C>T (p.Ala711Val) c.2231C>T (p.Ala744Val) c.2261C>T (p.Ala754Val) c.2252C>T (p.Ala751Val) c.2222C>T (p.Ala741Val) c.2165C>T (p.Ala722Val) c.2111C>T (p.Ala704Val) c.1904C>T (p.Ala635Val) c.2318C>T (p.Ala773Val) c.2312C>T (p.Ala771Val) c.2309C>T (p.Ala770Val) c.2369C>T (p.Ala790Val) c.2360C>T (p.Ala787Val) c.2279C>T (p.Ala760Val) c.2228C>T (p.Ala743Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.33800518G>A | CA486093299 | NPAS3 | c.2211G>A (p.Ala737=) c.2220G>A (p.Ala740=) c.2111G>A c.793+2937G>A c.2115G>A (p.Ala705=) c.2172G>A (p.Ala724=) c.2121G>A (p.Ala707=) c.2226G>A (p.Ala742=) c.2133G>A (p.Ala711=) c.2232G>A (p.Ala744=) c.2262G>A (p.Ala754=) c.2253G>A (p.Ala751=) c.2223G>A (p.Ala741=) c.2166G>A (p.Ala722=) c.2112G>A (p.Ala704=) c.1905G>A (p.Ala635=) c.2319G>A (p.Ala773=) c.2313G>A (p.Ala771=) c.2310G>A (p.Ala770=) c.2370G>A (p.Ala790=) c.2361G>A (p.Ala787=) c.2280G>A (p.Ala760=) c.2229G>A (p.Ala743=) | dbSNP gnomAD v4 |
| 14 | g.33800518G>C | CA486093301 | NPAS3 | c.2211G>C (p.Ala737=) c.2220G>C (p.Ala740=) c.2111G>C c.793+2937G>C c.2115G>C (p.Ala705=) c.2172G>C (p.Ala724=) c.2121G>C (p.Ala707=) c.2226G>C (p.Ala742=) c.2133G>C (p.Ala711=) c.2232G>C (p.Ala744=) c.2262G>C (p.Ala754=) c.2253G>C (p.Ala751=) c.2223G>C (p.Ala741=) c.2166G>C (p.Ala722=) c.2112G>C (p.Ala704=) c.1905G>C (p.Ala635=) c.2319G>C (p.Ala773=) c.2313G>C (p.Ala771=) c.2310G>C (p.Ala770=) c.2370G>C (p.Ala790=) c.2361G>C (p.Ala787=) c.2280G>C (p.Ala760=) c.2229G>C (p.Ala743=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800518G= | CA2128327677 | NPAS3 | c.2211G= (p.Ala737=) c.2220G= (p.Ala740=) c.2111G= c.793+2937G= c.2115G= (p.Ala705=) c.2172G= (p.Ala724=) c.2121G= (p.Ala707=) c.2226G= (p.Ala742=) c.2133G= (p.Ala711=) c.2232G= (p.Ala744=) c.2262G= (p.Ala754=) c.2253G= (p.Ala751=) c.2223G= (p.Ala741=) c.2166G= (p.Ala722=) c.2112G= (p.Ala704=) c.1905G= (p.Ala635=) c.2319G= (p.Ala773=) c.2313G= (p.Ala771=) c.2310G= (p.Ala770=) c.2370G= (p.Ala790=) c.2361G= (p.Ala787=) c.2280G= (p.Ala760=) c.2229G= (p.Ala743=) | |
| 14 | g.33800518G>T | CA486093300 | NPAS3 | c.2211G>T (p.Ala737=) c.2220G>T (p.Ala740=) c.2111G>T c.793+2937G>T c.2115G>T (p.Ala705=) c.2172G>T (p.Ala724=) c.2121G>T (p.Ala707=) c.2226G>T (p.Ala742=) c.2133G>T (p.Ala711=) c.2232G>T (p.Ala744=) c.2262G>T (p.Ala754=) c.2253G>T (p.Ala751=) c.2223G>T (p.Ala741=) c.2166G>T (p.Ala722=) c.2112G>T (p.Ala704=) c.1905G>T (p.Ala635=) c.2319G>T (p.Ala773=) c.2313G>T (p.Ala771=) c.2310G>T (p.Ala770=) c.2370G>T (p.Ala790=) c.2361G>T (p.Ala787=) c.2280G>T (p.Ala760=) c.2229G>T (p.Ala743=) | gnomAD v4 |
| 14 | g.33800519G>A | CA389414212 | NPAS3 | c.2212G>A (p.Ala738Thr) c.2221G>A (p.Ala741Thr) c.2112G>A c.793+2938G>A c.2116G>A (p.Ala706Thr) c.2173G>A (p.Ala725Thr) c.2122G>A (p.Ala708Thr) c.2227G>A (p.Ala743Thr) c.2134G>A (p.Ala712Thr) c.2233G>A (p.Ala745Thr) c.2263G>A (p.Ala755Thr) c.2254G>A (p.Ala752Thr) c.2224G>A (p.Ala742Thr) c.2167G>A (p.Ala723Thr) c.2113G>A (p.Ala705Thr) c.1906G>A (p.Ala636Thr) c.2320G>A (p.Ala774Thr) c.2314G>A (p.Ala772Thr) c.2311G>A (p.Ala771Thr) c.2371G>A (p.Ala791Thr) c.2362G>A (p.Ala788Thr) c.2281G>A (p.Ala761Thr) c.2230G>A (p.Ala744Thr) | gnomAD v4 |
| 14 | g.33800519G>C | CA389414213 | NPAS3 | c.2212G>C (p.Ala738Pro) c.2221G>C (p.Ala741Pro) c.2112G>C c.793+2938G>C c.2116G>C (p.Ala706Pro) c.2173G>C (p.Ala725Pro) c.2122G>C (p.Ala708Pro) c.2227G>C (p.Ala743Pro) c.2134G>C (p.Ala712Pro) c.2233G>C (p.Ala745Pro) c.2263G>C (p.Ala755Pro) c.2254G>C (p.Ala752Pro) c.2224G>C (p.Ala742Pro) c.2167G>C (p.Ala723Pro) c.2113G>C (p.Ala705Pro) c.1906G>C (p.Ala636Pro) c.2320G>C (p.Ala774Pro) c.2314G>C (p.Ala772Pro) c.2311G>C (p.Ala771Pro) c.2371G>C (p.Ala791Pro) c.2362G>C (p.Ala788Pro) c.2281G>C (p.Ala761Pro) c.2230G>C (p.Ala744Pro) | gnomAD v4 |
| 14 | g.33800519G>T | CA389414214 | NPAS3 | c.2212G>T (p.Ala738Ser) c.2221G>T (p.Ala741Ser) c.2112G>T c.793+2938G>T c.2116G>T (p.Ala706Ser) c.2173G>T (p.Ala725Ser) c.2122G>T (p.Ala708Ser) c.2227G>T (p.Ala743Ser) c.2134G>T (p.Ala712Ser) c.2233G>T (p.Ala745Ser) c.2263G>T (p.Ala755Ser) c.2254G>T (p.Ala752Ser) c.2224G>T (p.Ala742Ser) c.2167G>T (p.Ala723Ser) c.2113G>T (p.Ala705Ser) c.1906G>T (p.Ala636Ser) c.2320G>T (p.Ala774Ser) c.2314G>T (p.Ala772Ser) c.2311G>T (p.Ala771Ser) c.2371G>T (p.Ala791Ser) c.2362G>T (p.Ala788Ser) c.2281G>T (p.Ala761Ser) c.2230G>T (p.Ala744Ser) | gnomAD v4 |
| 14 | g.33800520C>A | CA389414217 | NPAS3 | c.2213C>A (p.Ala738Asp) c.2222C>A (p.Ala741Asp) c.2113C>A c.793+2939C>A c.2117C>A (p.Ala706Asp) c.2174C>A (p.Ala725Asp) c.2123C>A (p.Ala708Asp) c.2228C>A (p.Ala743Asp) c.2135C>A (p.Ala712Asp) c.2234C>A (p.Ala745Asp) c.2264C>A (p.Ala755Asp) c.2255C>A (p.Ala752Asp) c.2225C>A (p.Ala742Asp) c.2168C>A (p.Ala723Asp) c.2114C>A (p.Ala705Asp) c.1907C>A (p.Ala636Asp) c.2321C>A (p.Ala774Asp) c.2315C>A (p.Ala772Asp) c.2312C>A (p.Ala771Asp) c.2372C>A (p.Ala791Asp) c.2363C>A (p.Ala788Asp) c.2282C>A (p.Ala761Asp) c.2231C>A (p.Ala744Asp) | ClinVar gnomAD v4 |
| 14 | g.33800520C= | CA2128327680 | NPAS3 | c.2213C= (p.Ala738=) c.2222C= (p.Ala741=) c.2113C= c.793+2939C= c.2117C= (p.Ala706=) c.2174C= (p.Ala725=) c.2123C= (p.Ala708=) c.2228C= (p.Ala743=) c.2135C= (p.Ala712=) c.2234C= (p.Ala745=) c.2264C= (p.Ala755=) c.2255C= (p.Ala752=) c.2225C= (p.Ala742=) c.2168C= (p.Ala723=) c.2114C= (p.Ala705=) c.1907C= (p.Ala636=) c.2321C= (p.Ala774=) c.2315C= (p.Ala772=) c.2312C= (p.Ala771=) c.2372C= (p.Ala791=) c.2363C= (p.Ala788=) c.2282C= (p.Ala761=) c.2231C= (p.Ala744=) | |
| 14 | g.33800520C>G | CA389414215 | NPAS3 | c.2213C>G (p.Ala738Gly) c.2222C>G (p.Ala741Gly) c.2113C>G c.793+2939C>G c.2117C>G (p.Ala706Gly) c.2174C>G (p.Ala725Gly) c.2123C>G (p.Ala708Gly) c.2228C>G (p.Ala743Gly) c.2135C>G (p.Ala712Gly) c.2234C>G (p.Ala745Gly) c.2264C>G (p.Ala755Gly) c.2255C>G (p.Ala752Gly) c.2225C>G (p.Ala742Gly) c.2168C>G (p.Ala723Gly) c.2114C>G (p.Ala705Gly) c.1907C>G (p.Ala636Gly) c.2321C>G (p.Ala774Gly) c.2315C>G (p.Ala772Gly) c.2312C>G (p.Ala771Gly) c.2372C>G (p.Ala791Gly) c.2363C>G (p.Ala788Gly) c.2282C>G (p.Ala761Gly) c.2231C>G (p.Ala744Gly) | |
| 14 | g.33800520C>T | CA389414216 | NPAS3 | c.2213C>T (p.Ala738Val) c.2222C>T (p.Ala741Val) c.2113C>T c.793+2939C>T c.2117C>T (p.Ala706Val) c.2174C>T (p.Ala725Val) c.2123C>T (p.Ala708Val) c.2228C>T (p.Ala743Val) c.2135C>T (p.Ala712Val) c.2234C>T (p.Ala745Val) c.2264C>T (p.Ala755Val) c.2255C>T (p.Ala752Val) c.2225C>T (p.Ala742Val) c.2168C>T (p.Ala723Val) c.2114C>T (p.Ala705Val) c.1907C>T (p.Ala636Val) c.2321C>T (p.Ala774Val) c.2315C>T (p.Ala772Val) c.2312C>T (p.Ala771Val) c.2372C>T (p.Ala791Val) c.2363C>T (p.Ala788Val) c.2282C>T (p.Ala761Val) c.2231C>T (p.Ala744Val) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800522del | CA2624512041 | NPAS3 | c.2215del (p.Leu739TrpfsTer?) c.2224del (p.Leu742TrpfsTer?) c.2115del c.793+2941del c.2119del (p.Leu707TrpfsTer?) c.2176del (p.Leu726TrpfsTer?) c.2125del (p.Leu709TrpfsTer?) c.2230del (p.Leu744TrpfsTer?) c.2137del (p.Leu713TrpfsTer?) c.2236del (p.Leu746TrpfsTer?) c.2266del (p.Leu756TrpfsTer?) c.2257del (p.Leu753TrpfsTer?) c.2227del (p.Leu743TrpfsTer?) c.2170del (p.Leu724TrpfsTer?) c.2116del (p.Leu706TrpfsTer?) c.1909del (p.Leu637TrpfsTer?) c.2323del (p.Leu775TrpfsTer?) c.2317del (p.Leu773TrpfsTer?) c.2314del (p.Leu772TrpfsTer?) c.2374del (p.Leu792TrpfsTer?) c.2365del (p.Leu789TrpfsTer?) c.2284del (p.Leu762TrpfsTer?) c.2233del (p.Leu745TrpfsTer?) | gnomAD v4 |
| 14 | g.33800521C>A | CA486093303 | NPAS3 | c.2214C>A (p.Ala738=) c.2223C>A (p.Ala741=) c.2114C>A c.793+2940C>A c.2118C>A (p.Ala706=) c.2175C>A (p.Ala725=) c.2124C>A (p.Ala708=) c.2229C>A (p.Ala743=) c.2136C>A (p.Ala712=) c.2235C>A (p.Ala745=) c.2265C>A (p.Ala755=) c.2256C>A (p.Ala752=) c.2226C>A (p.Ala742=) c.2169C>A (p.Ala723=) c.2115C>A (p.Ala705=) c.1908C>A (p.Ala636=) c.2322C>A (p.Ala774=) c.2316C>A (p.Ala772=) c.2313C>A (p.Ala771=) c.2373C>A (p.Ala791=) c.2364C>A (p.Ala788=) c.2283C>A (p.Ala761=) c.2232C>A (p.Ala744=) | gnomAD v4 |
| 14 | g.33800521C>G | CA486093304 | NPAS3 | c.2214C>G (p.Ala738=) c.2223C>G (p.Ala741=) c.2114C>G c.793+2940C>G c.2118C>G (p.Ala706=) c.2175C>G (p.Ala725=) c.2124C>G (p.Ala708=) c.2229C>G (p.Ala743=) c.2136C>G (p.Ala712=) c.2235C>G (p.Ala745=) c.2265C>G (p.Ala755=) c.2256C>G (p.Ala752=) c.2226C>G (p.Ala742=) c.2169C>G (p.Ala723=) c.2115C>G (p.Ala705=) c.1908C>G (p.Ala636=) c.2322C>G (p.Ala774=) c.2316C>G (p.Ala772=) c.2313C>G (p.Ala771=) c.2373C>G (p.Ala791=) c.2364C>G (p.Ala788=) c.2283C>G (p.Ala761=) c.2232C>G (p.Ala744=) | |
| 14 | g.33800521C>T | CA486093306 | NPAS3 | c.2214C>T (p.Ala738=) c.2223C>T (p.Ala741=) c.2114C>T c.793+2940C>T c.2118C>T (p.Ala706=) c.2175C>T (p.Ala725=) c.2124C>T (p.Ala708=) c.2229C>T (p.Ala743=) c.2136C>T (p.Ala712=) c.2235C>T (p.Ala745=) c.2265C>T (p.Ala755=) c.2256C>T (p.Ala752=) c.2226C>T (p.Ala742=) c.2169C>T (p.Ala723=) c.2115C>T (p.Ala705=) c.1908C>T (p.Ala636=) c.2322C>T (p.Ala774=) c.2316C>T (p.Ala772=) c.2313C>T (p.Ala771=) c.2373C>T (p.Ala791=) c.2364C>T (p.Ala788=) c.2283C>T (p.Ala761=) c.2232C>T (p.Ala744=) | gnomAD v4 |
| 14 | g.33800522C>A | CA389414218 | NPAS3 | c.2215C>A (p.Leu739Met) c.2224C>A (p.Leu742Met) c.2115C>A c.793+2941C>A c.2119C>A (p.Leu707Met) c.2176C>A (p.Leu726Met) c.2125C>A (p.Leu709Met) c.2230C>A (p.Leu744Met) c.2137C>A (p.Leu713Met) c.2236C>A (p.Leu746Met) c.2266C>A (p.Leu756Met) c.2257C>A (p.Leu753Met) c.2227C>A (p.Leu743Met) c.2170C>A (p.Leu724Met) c.2116C>A (p.Leu706Met) c.1909C>A (p.Leu637Met) c.2323C>A (p.Leu775Met) c.2317C>A (p.Leu773Met) c.2314C>A (p.Leu772Met) c.2374C>A (p.Leu792Met) c.2365C>A (p.Leu789Met) c.2284C>A (p.Leu762Met) c.2233C>A (p.Leu745Met) | gnomAD v4 |
| 14 | g.33800522C>G | CA389414219 | NPAS3 | c.2215C>G (p.Leu739Val) c.2224C>G (p.Leu742Val) c.2115C>G c.793+2941C>G c.2119C>G (p.Leu707Val) c.2176C>G (p.Leu726Val) c.2125C>G (p.Leu709Val) c.2230C>G (p.Leu744Val) c.2137C>G (p.Leu713Val) c.2236C>G (p.Leu746Val) c.2266C>G (p.Leu756Val) c.2257C>G (p.Leu753Val) c.2227C>G (p.Leu743Val) c.2170C>G (p.Leu724Val) c.2116C>G (p.Leu706Val) c.1909C>G (p.Leu637Val) c.2323C>G (p.Leu775Val) c.2317C>G (p.Leu773Val) c.2314C>G (p.Leu772Val) c.2374C>G (p.Leu792Val) c.2365C>G (p.Leu789Val) c.2284C>G (p.Leu762Val) c.2233C>G (p.Leu745Val) | |
| 14 | g.33800522C>T | CA486093311 | NPAS3 | c.2215C>T (p.Leu739=) c.2224C>T (p.Leu742=) c.2115C>T c.793+2941C>T c.2119C>T (p.Leu707=) c.2176C>T (p.Leu726=) c.2125C>T (p.Leu709=) c.2230C>T (p.Leu744=) c.2137C>T (p.Leu713=) c.2236C>T (p.Leu746=) c.2266C>T (p.Leu756=) c.2257C>T (p.Leu753=) c.2227C>T (p.Leu743=) c.2170C>T (p.Leu724=) c.2116C>T (p.Leu706=) c.1909C>T (p.Leu637=) c.2323C>T (p.Leu775=) c.2317C>T (p.Leu773=) c.2314C>T (p.Leu772=) c.2374C>T (p.Leu792=) c.2365C>T (p.Leu789=) c.2284C>T (p.Leu762=) c.2233C>T (p.Leu745=) | gnomAD v4 |
| 14 | g.33800523T>A | CA389414220 | NPAS3 | c.2216T>A (p.Leu739Gln) c.2225T>A (p.Leu742Gln) c.2116T>A c.793+2942T>A c.2120T>A (p.Leu707Gln) c.2177T>A (p.Leu726Gln) c.2126T>A (p.Leu709Gln) c.2231T>A (p.Leu744Gln) c.2138T>A (p.Leu713Gln) c.2237T>A (p.Leu746Gln) c.2267T>A (p.Leu756Gln) c.2258T>A (p.Leu753Gln) c.2228T>A (p.Leu743Gln) c.2171T>A (p.Leu724Gln) c.2117T>A (p.Leu706Gln) c.1910T>A (p.Leu637Gln) c.2324T>A (p.Leu775Gln) c.2318T>A (p.Leu773Gln) c.2315T>A (p.Leu772Gln) c.2375T>A (p.Leu792Gln) c.2366T>A (p.Leu789Gln) c.2285T>A (p.Leu762Gln) c.2234T>A (p.Leu745Gln) | gnomAD v4 |
| 14 | g.33800523T>C | CA389414221 | NPAS3 | c.2216T>C (p.Leu739Pro) c.2225T>C (p.Leu742Pro) c.2116T>C c.793+2942T>C c.2120T>C (p.Leu707Pro) c.2177T>C (p.Leu726Pro) c.2126T>C (p.Leu709Pro) c.2231T>C (p.Leu744Pro) c.2138T>C (p.Leu713Pro) c.2237T>C (p.Leu746Pro) c.2267T>C (p.Leu756Pro) c.2258T>C (p.Leu753Pro) c.2228T>C (p.Leu743Pro) c.2171T>C (p.Leu724Pro) c.2117T>C (p.Leu706Pro) c.1910T>C (p.Leu637Pro) c.2324T>C (p.Leu775Pro) c.2318T>C (p.Leu773Pro) c.2315T>C (p.Leu772Pro) c.2375T>C (p.Leu792Pro) c.2366T>C (p.Leu789Pro) c.2285T>C (p.Leu762Pro) c.2234T>C (p.Leu745Pro) | dbSNP gnomAD v4 |
| 14 | g.33800523T>G | CA389414222 | NPAS3 | c.2216T>G (p.Leu739Arg) c.2225T>G (p.Leu742Arg) c.2116T>G c.793+2942T>G c.2120T>G (p.Leu707Arg) c.2177T>G (p.Leu726Arg) c.2126T>G (p.Leu709Arg) c.2231T>G (p.Leu744Arg) c.2138T>G (p.Leu713Arg) c.2237T>G (p.Leu746Arg) c.2267T>G (p.Leu756Arg) c.2258T>G (p.Leu753Arg) c.2228T>G (p.Leu743Arg) c.2171T>G (p.Leu724Arg) c.2117T>G (p.Leu706Arg) c.1910T>G (p.Leu637Arg) c.2324T>G (p.Leu775Arg) c.2318T>G (p.Leu773Arg) c.2315T>G (p.Leu772Arg) c.2375T>G (p.Leu792Arg) c.2366T>G (p.Leu789Arg) c.2285T>G (p.Leu762Arg) c.2234T>G (p.Leu745Arg) | |
| 14 | g.33800524G>A | CA486093313 | NPAS3 | c.2217G>A (p.Leu739=) c.2226G>A (p.Leu742=) c.2117G>A c.793+2943G>A c.2121G>A (p.Leu707=) c.2178G>A (p.Leu726=) c.2127G>A (p.Leu709=) c.2232G>A (p.Leu744=) c.2139G>A (p.Leu713=) c.2238G>A (p.Leu746=) c.2268G>A (p.Leu756=) c.2259G>A (p.Leu753=) c.2229G>A (p.Leu743=) c.2172G>A (p.Leu724=) c.2118G>A (p.Leu706=) c.1911G>A (p.Leu637=) c.2325G>A (p.Leu775=) c.2319G>A (p.Leu773=) c.2316G>A (p.Leu772=) c.2376G>A (p.Leu792=) c.2367G>A (p.Leu789=) c.2286G>A (p.Leu762=) c.2235G>A (p.Leu745=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800524G>C | CA486093314 | NPAS3 | c.2217G>C (p.Leu739=) c.2226G>C (p.Leu742=) c.2117G>C c.793+2943G>C c.2121G>C (p.Leu707=) c.2178G>C (p.Leu726=) c.2127G>C (p.Leu709=) c.2232G>C (p.Leu744=) c.2139G>C (p.Leu713=) c.2238G>C (p.Leu746=) c.2268G>C (p.Leu756=) c.2259G>C (p.Leu753=) c.2229G>C (p.Leu743=) c.2172G>C (p.Leu724=) c.2118G>C (p.Leu706=) c.1911G>C (p.Leu637=) c.2325G>C (p.Leu775=) c.2319G>C (p.Leu773=) c.2316G>C (p.Leu772=) c.2376G>C (p.Leu792=) c.2367G>C (p.Leu789=) c.2286G>C (p.Leu762=) c.2235G>C (p.Leu745=) | |
| 14 | g.33800524G= | CA2128327683 | NPAS3 | c.2217G= (p.Leu739=) c.2226G= (p.Leu742=) c.2117G= c.793+2943G= c.2121G= (p.Leu707=) c.2178G= (p.Leu726=) c.2127G= (p.Leu709=) c.2232G= (p.Leu744=) c.2139G= (p.Leu713=) c.2238G= (p.Leu746=) c.2268G= (p.Leu756=) c.2259G= (p.Leu753=) c.2229G= (p.Leu743=) c.2172G= (p.Leu724=) c.2118G= (p.Leu706=) c.1911G= (p.Leu637=) c.2325G= (p.Leu775=) c.2319G= (p.Leu773=) c.2316G= (p.Leu772=) c.2376G= (p.Leu792=) c.2367G= (p.Leu789=) c.2286G= (p.Leu762=) c.2235G= (p.Leu745=) | |
| 14 | g.33800524G>T | CA486093316 | NPAS3 | c.2217G>T (p.Leu739=) c.2226G>T (p.Leu742=) c.2117G>T c.793+2943G>T c.2121G>T (p.Leu707=) c.2178G>T (p.Leu726=) c.2127G>T (p.Leu709=) c.2232G>T (p.Leu744=) c.2139G>T (p.Leu713=) c.2238G>T (p.Leu746=) c.2268G>T (p.Leu756=) c.2259G>T (p.Leu753=) c.2229G>T (p.Leu743=) c.2172G>T (p.Leu724=) c.2118G>T (p.Leu706=) c.1911G>T (p.Leu637=) c.2325G>T (p.Leu775=) c.2319G>T (p.Leu773=) c.2316G>T (p.Leu772=) c.2376G>T (p.Leu792=) c.2367G>T (p.Leu789=) c.2286G>T (p.Leu762=) c.2235G>T (p.Leu745=) | gnomAD v4 |
| 14 | g.33800525del | CA2624512042 | NPAS3 | c.2218del (p.Ala740ProfsTer?) c.2227del (p.Ala743ProfsTer?) c.2118del c.793+2944del c.2122del (p.Ala708ProfsTer?) c.2179del (p.Ala727ProfsTer?) c.2128del (p.Ala710ProfsTer?) c.2233del (p.Ala745ProfsTer?) c.2140del (p.Ala714ProfsTer?) c.2239del (p.Ala747ProfsTer?) c.2269del (p.Ala757ProfsTer?) c.2260del (p.Ala754ProfsTer?) c.2230del (p.Ala744ProfsTer?) c.2173del (p.Ala725ProfsTer?) c.2119del (p.Ala707ProfsTer?) c.1912del (p.Ala638ProfsTer?) c.2326del (p.Ala776ProfsTer?) c.2320del (p.Ala774ProfsTer?) c.2317del (p.Ala773ProfsTer?) c.2377del (p.Ala793ProfsTer?) c.2368del (p.Ala790ProfsTer?) c.2287del (p.Ala763ProfsTer?) c.2236del (p.Ala746ProfsTer?) | gnomAD v4 |
| 14 | g.33800525G>A | CA389414225 | NPAS3 | c.2218G>A (p.Ala740Thr) c.2227G>A (p.Ala743Thr) c.2118G>A c.793+2944G>A c.2122G>A (p.Ala708Thr) c.2179G>A (p.Ala727Thr) c.2128G>A (p.Ala710Thr) c.2233G>A (p.Ala745Thr) c.2140G>A (p.Ala714Thr) c.2239G>A (p.Ala747Thr) c.2269G>A (p.Ala757Thr) c.2260G>A (p.Ala754Thr) c.2230G>A (p.Ala744Thr) c.2173G>A (p.Ala725Thr) c.2119G>A (p.Ala707Thr) c.1912G>A (p.Ala638Thr) c.2326G>A (p.Ala776Thr) c.2320G>A (p.Ala774Thr) c.2317G>A (p.Ala773Thr) c.2377G>A (p.Ala793Thr) c.2368G>A (p.Ala790Thr) c.2287G>A (p.Ala763Thr) c.2236G>A (p.Ala746Thr) | gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.33800525G>C | CA389414224 | NPAS3 | c.2218G>C (p.Ala740Pro) c.2227G>C (p.Ala743Pro) c.2118G>C c.793+2944G>C c.2122G>C (p.Ala708Pro) c.2179G>C (p.Ala727Pro) c.2128G>C (p.Ala710Pro) c.2233G>C (p.Ala745Pro) c.2140G>C (p.Ala714Pro) c.2239G>C (p.Ala747Pro) c.2269G>C (p.Ala757Pro) c.2260G>C (p.Ala754Pro) c.2230G>C (p.Ala744Pro) c.2173G>C (p.Ala725Pro) c.2119G>C (p.Ala707Pro) c.1912G>C (p.Ala638Pro) c.2326G>C (p.Ala776Pro) c.2320G>C (p.Ala774Pro) c.2317G>C (p.Ala773Pro) c.2377G>C (p.Ala793Pro) c.2368G>C (p.Ala790Pro) c.2287G>C (p.Ala763Pro) c.2236G>C (p.Ala746Pro) | gnomAD v4 |
| 14 | g.33800525G>T | CA389414223 | NPAS3 | c.2218G>T (p.Ala740Ser) c.2227G>T (p.Ala743Ser) c.2118G>T c.793+2944G>T c.2122G>T (p.Ala708Ser) c.2179G>T (p.Ala727Ser) c.2128G>T (p.Ala710Ser) c.2233G>T (p.Ala745Ser) c.2140G>T (p.Ala714Ser) c.2239G>T (p.Ala747Ser) c.2269G>T (p.Ala757Ser) c.2260G>T (p.Ala754Ser) c.2230G>T (p.Ala744Ser) c.2173G>T (p.Ala725Ser) c.2119G>T (p.Ala707Ser) c.1912G>T (p.Ala638Ser) c.2326G>T (p.Ala776Ser) c.2320G>T (p.Ala774Ser) c.2317G>T (p.Ala773Ser) c.2377G>T (p.Ala793Ser) c.2368G>T (p.Ala790Ser) c.2287G>T (p.Ala763Ser) c.2236G>T (p.Ala746Ser) | gnomAD v4 |
| 14 | g.33800526C>A | CA258719222 | NPAS3 | c.2219C>A (p.Ala740Asp) c.2228C>A (p.Ala743Asp) c.2119C>A c.793+2945C>A c.2123C>A (p.Ala708Asp) c.2180C>A (p.Ala727Asp) c.2129C>A (p.Ala710Asp) c.2234C>A (p.Ala745Asp) c.2141C>A (p.Ala714Asp) c.2240C>A (p.Ala747Asp) c.2270C>A (p.Ala757Asp) c.2261C>A (p.Ala754Asp) c.2231C>A (p.Ala744Asp) c.2174C>A (p.Ala725Asp) c.2120C>A (p.Ala707Asp) c.1913C>A (p.Ala638Asp) c.2327C>A (p.Ala776Asp) c.2321C>A (p.Ala774Asp) c.2318C>A (p.Ala773Asp) c.2378C>A (p.Ala793Asp) c.2369C>A (p.Ala790Asp) c.2288C>A (p.Ala763Asp) c.2237C>A (p.Ala746Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800526C= | CA2128327687 | NPAS3 | c.2219C= (p.Ala740=) c.2228C= (p.Ala743=) c.2119C= c.793+2945C= c.2123C= (p.Ala708=) c.2180C= (p.Ala727=) c.2129C= (p.Ala710=) c.2234C= (p.Ala745=) c.2141C= (p.Ala714=) c.2240C= (p.Ala747=) c.2270C= (p.Ala757=) c.2261C= (p.Ala754=) c.2231C= (p.Ala744=) c.2174C= (p.Ala725=) c.2120C= (p.Ala707=) c.1913C= (p.Ala638=) c.2327C= (p.Ala776=) c.2321C= (p.Ala774=) c.2318C= (p.Ala773=) c.2378C= (p.Ala793=) c.2369C= (p.Ala790=) c.2288C= (p.Ala763=) c.2237C= (p.Ala746=) | |
| 14 | g.33800526C>G | CA389414226 | NPAS3 | c.2219C>G (p.Ala740Gly) c.2228C>G (p.Ala743Gly) c.2119C>G c.793+2945C>G c.2123C>G (p.Ala708Gly) c.2180C>G (p.Ala727Gly) c.2129C>G (p.Ala710Gly) c.2234C>G (p.Ala745Gly) c.2141C>G (p.Ala714Gly) c.2240C>G (p.Ala747Gly) c.2270C>G (p.Ala757Gly) c.2261C>G (p.Ala754Gly) c.2231C>G (p.Ala744Gly) c.2174C>G (p.Ala725Gly) c.2120C>G (p.Ala707Gly) c.1913C>G (p.Ala638Gly) c.2327C>G (p.Ala776Gly) c.2321C>G (p.Ala774Gly) c.2318C>G (p.Ala773Gly) c.2378C>G (p.Ala793Gly) c.2369C>G (p.Ala790Gly) c.2288C>G (p.Ala763Gly) c.2237C>G (p.Ala746Gly) | gnomAD v4 |
| 14 | g.33800526C>T | CA389414227 | NPAS3 | c.2219C>T (p.Ala740Val) c.2228C>T (p.Ala743Val) c.2119C>T c.793+2945C>T c.2123C>T (p.Ala708Val) c.2180C>T (p.Ala727Val) c.2129C>T (p.Ala710Val) c.2234C>T (p.Ala745Val) c.2141C>T (p.Ala714Val) c.2240C>T (p.Ala747Val) c.2270C>T (p.Ala757Val) c.2261C>T (p.Ala754Val) c.2231C>T (p.Ala744Val) c.2174C>T (p.Ala725Val) c.2120C>T (p.Ala707Val) c.1913C>T (p.Ala638Val) c.2327C>T (p.Ala776Val) c.2321C>T (p.Ala774Val) c.2318C>T (p.Ala773Val) c.2378C>T (p.Ala793Val) c.2369C>T (p.Ala790Val) c.2288C>T (p.Ala763Val) c.2237C>T (p.Ala746Val) | gnomAD v4 |
| 14 | g.33800530dup | CA2624512043 | NPAS3 | c.2223dup (p.Val742ArgfsTer?) c.2232dup (p.Val745ArgfsTer?) c.2123dup c.793+2949dup c.2127dup (p.Val710ArgfsTer?) c.2184dup (p.Val729ArgfsTer?) c.2133dup (p.Val712ArgfsTer?) c.2238dup (p.Val747ArgfsTer?) c.2145dup (p.Val716ArgfsTer?) c.2244dup (p.Val749ArgfsTer?) c.2274dup (p.Val759ArgfsTer?) c.2265dup (p.Val756ArgfsTer?) c.2235dup (p.Val746ArgfsTer?) c.2178dup (p.Val727ArgfsTer?) c.2124dup (p.Val709ArgfsTer?) c.1917dup (p.Val640ArgfsTer?) c.2331dup (p.Val778ArgfsTer?) c.2325dup (p.Val776ArgfsTer?) c.2322dup (p.Val775ArgfsTer?) c.2382dup (p.Val795ArgfsTer?) c.2373dup (p.Val792ArgfsTer?) c.2292dup (p.Val765ArgfsTer?) c.2241dup (p.Val748ArgfsTer?) | gnomAD v4 |
| 14 | g.33800530del | CA613803865 | NPAS3 | c.2223del (p.Val742SerfsTer?) c.2232del (p.Val745SerfsTer?) c.2123del c.793+2949del c.2127del (p.Val710SerfsTer?) c.2184del (p.Val729SerfsTer?) c.2133del (p.Val712SerfsTer?) c.2238del (p.Val747SerfsTer?) c.2145del (p.Val716SerfsTer?) c.2244del (p.Val749SerfsTer?) c.2274del (p.Val759SerfsTer?) c.2265del (p.Val756SerfsTer?) c.2235del (p.Val746SerfsTer?) c.2178del (p.Val727SerfsTer?) c.2124del (p.Val709SerfsTer?) c.1917del (p.Val640SerfsTer?) c.2331del (p.Val778SerfsTer?) c.2325del (p.Val776SerfsTer?) c.2322del (p.Val775SerfsTer?) c.2382del (p.Val795SerfsTer?) c.2373del (p.Val792SerfsTer?) c.2292del (p.Val765SerfsTer?) c.2241del (p.Val748SerfsTer?) | gnomAD v2 gnomAD v4 |
| 14 | g.33800527C>A | CA486093323 | NPAS3 | c.2220C>A (p.Ala740=) c.2229C>A (p.Ala743=) c.2120C>A c.793+2946C>A c.2124C>A (p.Ala708=) c.2181C>A (p.Ala727=) c.2130C>A (p.Ala710=) c.2235C>A (p.Ala745=) c.2142C>A (p.Ala714=) c.2241C>A (p.Ala747=) c.2271C>A (p.Ala757=) c.2262C>A (p.Ala754=) c.2232C>A (p.Ala744=) c.2175C>A (p.Ala725=) c.2121C>A (p.Ala707=) c.1914C>A (p.Ala638=) c.2328C>A (p.Ala776=) c.2322C>A (p.Ala774=) c.2319C>A (p.Ala773=) c.2379C>A (p.Ala793=) c.2370C>A (p.Ala790=) c.2289C>A (p.Ala763=) c.2238C>A (p.Ala746=) | gnomAD v4 |