UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.33800574_33800585del | CA2624512051 | NPAS3 | c.2267_2278del (p.Arg756_His759del) c.2276_2287del (p.Arg759_His762del) c.2167_2178del c.793+2993_793+3004del c.2171_2182del (p.Arg724_His727del) c.2228_2239del (p.Arg743_His746del) c.2177_2188del (p.Arg726_His729del) c.2282_2293del (p.Arg761_His764del) c.2189_2200del (p.Arg730_His733del) c.2288_2299del (p.Arg763_His766del) c.2318_2329del (p.Arg773_His776del) c.2309_2320del (p.Arg770_His773del) c.2279_2290del (p.Arg760_His763del) c.2222_2233del (p.Arg741_His744del) c.2168_2179del (p.Arg723_His726del) c.1961_1972del (p.Arg654_His657del) c.2375_2386del (p.Arg792_His795del) c.2369_2380del (p.Arg790_His793del) c.2366_2377del (p.Arg789_His792del) c.2426_2437del (p.Arg809_His812del) c.2417_2428del (p.Arg806_His809del) c.2336_2347del (p.Arg779_His782del) c.2285_2296del (p.Arg762_His765del) | gnomAD v4 |
| 14 | g.33800581G>A | CA486093437 | NPAS3 | c.2274G>A (p.Lys758=) c.2283G>A (p.Lys761=) c.2174G>A c.793+3000G>A c.2178G>A (p.Lys726=) c.2235G>A (p.Lys745=) c.2184G>A (p.Lys728=) c.2289G>A (p.Lys763=) c.2196G>A (p.Lys732=) c.2295G>A (p.Lys765=) c.2325G>A (p.Lys775=) c.2316G>A (p.Lys772=) c.2286G>A (p.Lys762=) c.2229G>A (p.Lys743=) c.2175G>A (p.Lys725=) c.1968G>A (p.Lys656=) c.2382G>A (p.Lys794=) c.2376G>A (p.Lys792=) c.2373G>A (p.Lys791=) c.2433G>A (p.Lys811=) c.2424G>A (p.Lys808=) c.2343G>A (p.Lys781=) c.2292G>A (p.Lys764=) | gnomAD v4 |
| 14 | g.33800581G>C | CA389414336 | NPAS3 | c.2274G>C (p.Lys758Asn) c.2283G>C (p.Lys761Asn) c.2174G>C c.793+3000G>C c.2178G>C (p.Lys726Asn) c.2235G>C (p.Lys745Asn) c.2184G>C (p.Lys728Asn) c.2289G>C (p.Lys763Asn) c.2196G>C (p.Lys732Asn) c.2295G>C (p.Lys765Asn) c.2325G>C (p.Lys775Asn) c.2316G>C (p.Lys772Asn) c.2286G>C (p.Lys762Asn) c.2229G>C (p.Lys743Asn) c.2175G>C (p.Lys725Asn) c.1968G>C (p.Lys656Asn) c.2382G>C (p.Lys794Asn) c.2376G>C (p.Lys792Asn) c.2373G>C (p.Lys791Asn) c.2433G>C (p.Lys811Asn) c.2424G>C (p.Lys808Asn) c.2343G>C (p.Lys781Asn) c.2292G>C (p.Lys764Asn) | dbSNP |
| 14 | g.33800581G= | CA2128328009 | NPAS3 | c.2274G= (p.Lys758=) c.2283G= (p.Lys761=) c.2174G= c.793+3000G= c.2178G= (p.Lys726=) c.2235G= (p.Lys745=) c.2184G= (p.Lys728=) c.2289G= (p.Lys763=) c.2196G= (p.Lys732=) c.2295G= (p.Lys765=) c.2325G= (p.Lys775=) c.2316G= (p.Lys772=) c.2286G= (p.Lys762=) c.2229G= (p.Lys743=) c.2175G= (p.Lys725=) c.1968G= (p.Lys656=) c.2382G= (p.Lys794=) c.2376G= (p.Lys792=) c.2373G= (p.Lys791=) c.2433G= (p.Lys811=) c.2424G= (p.Lys808=) c.2343G= (p.Lys781=) c.2292G= (p.Lys764=) | |
| 14 | g.33800581G>T | CA389414337 | NPAS3 | c.2274G>T (p.Lys758Asn) c.2283G>T (p.Lys761Asn) c.2174G>T c.793+3000G>T c.2178G>T (p.Lys726Asn) c.2235G>T (p.Lys745Asn) c.2184G>T (p.Lys728Asn) c.2289G>T (p.Lys763Asn) c.2196G>T (p.Lys732Asn) c.2295G>T (p.Lys765Asn) c.2325G>T (p.Lys775Asn) c.2316G>T (p.Lys772Asn) c.2286G>T (p.Lys762Asn) c.2229G>T (p.Lys743Asn) c.2175G>T (p.Lys725Asn) c.1968G>T (p.Lys656Asn) c.2382G>T (p.Lys794Asn) c.2376G>T (p.Lys792Asn) c.2373G>T (p.Lys791Asn) c.2433G>T (p.Lys811Asn) c.2424G>T (p.Lys808Asn) c.2343G>T (p.Lys781Asn) c.2292G>T (p.Lys764Asn) | gnomAD v4 |
| 14 | g.33800582C>A | CA389414338 | NPAS3 | c.2275C>A (p.His759Asn) c.2284C>A (p.His762Asn) c.2175C>A c.793+3001C>A c.2179C>A (p.His727Asn) c.2236C>A (p.His746Asn) c.2185C>A (p.His729Asn) c.2290C>A (p.His764Asn) c.2197C>A (p.His733Asn) c.2296C>A (p.His766Asn) c.2326C>A (p.His776Asn) c.2317C>A (p.His773Asn) c.2287C>A (p.His763Asn) c.2230C>A (p.His744Asn) c.2176C>A (p.His726Asn) c.1969C>A (p.His657Asn) c.2383C>A (p.His795Asn) c.2377C>A (p.His793Asn) c.2374C>A (p.His792Asn) c.2434C>A (p.His812Asn) c.2425C>A (p.His809Asn) c.2344C>A (p.His782Asn) c.2293C>A (p.His765Asn) | gnomAD v4 |
| 14 | g.33800582C>G | CA389414340 | NPAS3 | c.2275C>G (p.His759Asp) c.2284C>G (p.His762Asp) c.2175C>G c.793+3001C>G c.2179C>G (p.His727Asp) c.2236C>G (p.His746Asp) c.2185C>G (p.His729Asp) c.2290C>G (p.His764Asp) c.2197C>G (p.His733Asp) c.2296C>G (p.His766Asp) c.2326C>G (p.His776Asp) c.2317C>G (p.His773Asp) c.2287C>G (p.His763Asp) c.2230C>G (p.His744Asp) c.2176C>G (p.His726Asp) c.1969C>G (p.His657Asp) c.2383C>G (p.His795Asp) c.2377C>G (p.His793Asp) c.2374C>G (p.His792Asp) c.2434C>G (p.His812Asp) c.2425C>G (p.His809Asp) c.2344C>G (p.His782Asp) c.2293C>G (p.His765Asp) | |
| 14 | g.33800582C>T | CA389414339 | NPAS3 | c.2275C>T (p.His759Tyr) c.2284C>T (p.His762Tyr) c.2175C>T c.793+3001C>T c.2179C>T (p.His727Tyr) c.2236C>T (p.His746Tyr) c.2185C>T (p.His729Tyr) c.2290C>T (p.His764Tyr) c.2197C>T (p.His733Tyr) c.2296C>T (p.His766Tyr) c.2326C>T (p.His776Tyr) c.2317C>T (p.His773Tyr) c.2287C>T (p.His763Tyr) c.2230C>T (p.His744Tyr) c.2176C>T (p.His726Tyr) c.1969C>T (p.His657Tyr) c.2383C>T (p.His795Tyr) c.2377C>T (p.His793Tyr) c.2374C>T (p.His792Tyr) c.2434C>T (p.His812Tyr) c.2425C>T (p.His809Tyr) c.2344C>T (p.His782Tyr) c.2293C>T (p.His765Tyr) | gnomAD v4 |
| 14 | g.33800583A>C | CA389414341 | NPAS3 | c.2276A>C (p.His759Pro) c.2285A>C (p.His762Pro) c.2176A>C c.793+3002A>C c.2180A>C (p.His727Pro) c.2237A>C (p.His746Pro) c.2186A>C (p.His729Pro) c.2291A>C (p.His764Pro) c.2198A>C (p.His733Pro) c.2297A>C (p.His766Pro) c.2327A>C (p.His776Pro) c.2318A>C (p.His773Pro) c.2288A>C (p.His763Pro) c.2231A>C (p.His744Pro) c.2177A>C (p.His726Pro) c.1970A>C (p.His657Pro) c.2384A>C (p.His795Pro) c.2378A>C (p.His793Pro) c.2375A>C (p.His792Pro) c.2435A>C (p.His812Pro) c.2426A>C (p.His809Pro) c.2345A>C (p.His782Pro) c.2294A>C (p.His765Pro) | gnomAD v4 |
| 14 | g.33800583A>G | CA389414342 | NPAS3 | c.2276A>G (p.His759Arg) c.2285A>G (p.His762Arg) c.2176A>G c.793+3002A>G c.2180A>G (p.His727Arg) c.2237A>G (p.His746Arg) c.2186A>G (p.His729Arg) c.2291A>G (p.His764Arg) c.2198A>G (p.His733Arg) c.2297A>G (p.His766Arg) c.2327A>G (p.His776Arg) c.2318A>G (p.His773Arg) c.2288A>G (p.His763Arg) c.2231A>G (p.His744Arg) c.2177A>G (p.His726Arg) c.1970A>G (p.His657Arg) c.2384A>G (p.His795Arg) c.2378A>G (p.His793Arg) c.2375A>G (p.His792Arg) c.2435A>G (p.His812Arg) c.2426A>G (p.His809Arg) c.2345A>G (p.His782Arg) c.2294A>G (p.His765Arg) | gnomAD v4 |
| 14 | g.33800583A>T | CA389414343 | NPAS3 | c.2276A>T (p.His759Leu) c.2285A>T (p.His762Leu) c.2176A>T c.793+3002A>T c.2180A>T (p.His727Leu) c.2237A>T (p.His746Leu) c.2186A>T (p.His729Leu) c.2291A>T (p.His764Leu) c.2198A>T (p.His733Leu) c.2297A>T (p.His766Leu) c.2327A>T (p.His776Leu) c.2318A>T (p.His773Leu) c.2288A>T (p.His763Leu) c.2231A>T (p.His744Leu) c.2177A>T (p.His726Leu) c.1970A>T (p.His657Leu) c.2384A>T (p.His795Leu) c.2378A>T (p.His793Leu) c.2375A>T (p.His792Leu) c.2435A>T (p.His812Leu) c.2426A>T (p.His809Leu) c.2345A>T (p.His782Leu) c.2294A>T (p.His765Leu) | |
| 14 | g.33800584C>A | CA389414344 | NPAS3 | c.2277C>A (p.His759Gln) c.2286C>A (p.His762Gln) c.2177C>A c.793+3003C>A c.2181C>A (p.His727Gln) c.2238C>A (p.His746Gln) c.2187C>A (p.His729Gln) c.2292C>A (p.His764Gln) c.2199C>A (p.His733Gln) c.2298C>A (p.His766Gln) c.2328C>A (p.His776Gln) c.2319C>A (p.His773Gln) c.2289C>A (p.His763Gln) c.2232C>A (p.His744Gln) c.2178C>A (p.His726Gln) c.1971C>A (p.His657Gln) c.2385C>A (p.His795Gln) c.2379C>A (p.His793Gln) c.2376C>A (p.His792Gln) c.2436C>A (p.His812Gln) c.2427C>A (p.His809Gln) c.2346C>A (p.His782Gln) c.2295C>A (p.His765Gln) | gnomAD v4 |
| 14 | g.33800584C= | CA2128328012 | NPAS3 | c.2277C= (p.His759=) c.2286C= (p.His762=) c.2177C= c.793+3003C= c.2181C= (p.His727=) c.2238C= (p.His746=) c.2187C= (p.His729=) c.2292C= (p.His764=) c.2199C= (p.His733=) c.2298C= (p.His766=) c.2328C= (p.His776=) c.2319C= (p.His773=) c.2289C= (p.His763=) c.2232C= (p.His744=) c.2178C= (p.His726=) c.1971C= (p.His657=) c.2385C= (p.His795=) c.2379C= (p.His793=) c.2376C= (p.His792=) c.2436C= (p.His812=) c.2427C= (p.His809=) c.2346C= (p.His782=) c.2295C= (p.His765=) | |
| 14 | g.33800584C>G | CA389414345 | NPAS3 | c.2277C>G (p.His759Gln) c.2286C>G (p.His762Gln) c.2177C>G c.793+3003C>G c.2181C>G (p.His727Gln) c.2238C>G (p.His746Gln) c.2187C>G (p.His729Gln) c.2292C>G (p.His764Gln) c.2199C>G (p.His733Gln) c.2298C>G (p.His766Gln) c.2328C>G (p.His776Gln) c.2319C>G (p.His773Gln) c.2289C>G (p.His763Gln) c.2232C>G (p.His744Gln) c.2178C>G (p.His726Gln) c.1971C>G (p.His657Gln) c.2385C>G (p.His795Gln) c.2379C>G (p.His793Gln) c.2376C>G (p.His792Gln) c.2436C>G (p.His812Gln) c.2427C>G (p.His809Gln) c.2346C>G (p.His782Gln) c.2295C>G (p.His765Gln) | gnomAD v4 |
| 14 | g.33800584C>T | CA486093445 | NPAS3 | c.2277C>T (p.His759=) c.2286C>T (p.His762=) c.2177C>T c.793+3003C>T c.2181C>T (p.His727=) c.2238C>T (p.His746=) c.2187C>T (p.His729=) c.2292C>T (p.His764=) c.2199C>T (p.His733=) c.2298C>T (p.His766=) c.2328C>T (p.His776=) c.2319C>T (p.His773=) c.2289C>T (p.His763=) c.2232C>T (p.His744=) c.2178C>T (p.His726=) c.1971C>T (p.His657=) c.2385C>T (p.His795=) c.2379C>T (p.His793=) c.2376C>T (p.His792=) c.2436C>T (p.His812=) c.2427C>T (p.His809=) c.2346C>T (p.His782=) c.2295C>T (p.His765=) | dbSNP gnomAD v4 |
| 14 | g.33800587del | CA2624512053 | NPAS3 | c.2280del (p.Asn762ThrfsTer?) c.2289del (p.Asn765ThrfsTer?) c.2180del c.793+3006del c.2184del (p.Asn730ThrfsTer?) c.2241del (p.Asn749ThrfsTer?) c.2190del (p.Asn732ThrfsTer?) c.2295del (p.Asn767ThrfsTer?) c.2202del (p.Asn736ThrfsTer?) c.2301del (p.Asn769ThrfsTer?) c.2331del (p.Asn779ThrfsTer?) c.2322del (p.Asn776ThrfsTer?) c.2292del (p.Asn766ThrfsTer?) c.2235del (p.Asn747ThrfsTer?) c.2181del (p.Asn729ThrfsTer?) c.1974del (p.Asn660ThrfsTer?) c.2388del (p.Asn798ThrfsTer?) c.2382del (p.Asn796ThrfsTer?) c.2379del (p.Asn795ThrfsTer?) c.2439del (p.Asn815ThrfsTer?) c.2430del (p.Asn812ThrfsTer?) c.2349del (p.Asn785ThrfsTer?) c.2298del (p.Asn768ThrfsTer?) | gnomAD v4 |
| 14 | g.33800585C>A | CA389414348 | NPAS3 | c.2278C>A (p.Pro760Thr) c.2287C>A (p.Pro763Thr) c.2178C>A c.793+3004C>A c.2182C>A (p.Pro728Thr) c.2239C>A (p.Pro747Thr) c.2188C>A (p.Pro730Thr) c.2293C>A (p.Pro765Thr) c.2200C>A (p.Pro734Thr) c.2299C>A (p.Pro767Thr) c.2329C>A (p.Pro777Thr) c.2320C>A (p.Pro774Thr) c.2290C>A (p.Pro764Thr) c.2233C>A (p.Pro745Thr) c.2179C>A (p.Pro727Thr) c.1972C>A (p.Pro658Thr) c.2386C>A (p.Pro796Thr) c.2380C>A (p.Pro794Thr) c.2377C>A (p.Pro793Thr) c.2437C>A (p.Pro813Thr) c.2428C>A (p.Pro810Thr) c.2347C>A (p.Pro783Thr) c.2296C>A (p.Pro766Thr) | gnomAD v4 |
| 14 | g.33800585C>G | CA389414347 | NPAS3 | c.2278C>G (p.Pro760Ala) c.2287C>G (p.Pro763Ala) c.2178C>G c.793+3004C>G c.2182C>G (p.Pro728Ala) c.2239C>G (p.Pro747Ala) c.2188C>G (p.Pro730Ala) c.2293C>G (p.Pro765Ala) c.2200C>G (p.Pro734Ala) c.2299C>G (p.Pro767Ala) c.2329C>G (p.Pro777Ala) c.2320C>G (p.Pro774Ala) c.2290C>G (p.Pro764Ala) c.2233C>G (p.Pro745Ala) c.2179C>G (p.Pro727Ala) c.1972C>G (p.Pro658Ala) c.2386C>G (p.Pro796Ala) c.2380C>G (p.Pro794Ala) c.2377C>G (p.Pro793Ala) c.2437C>G (p.Pro813Ala) c.2428C>G (p.Pro810Ala) c.2347C>G (p.Pro783Ala) c.2296C>G (p.Pro766Ala) | |
| 14 | g.33800585C>T | CA389414346 | NPAS3 | c.2278C>T (p.Pro760Ser) c.2287C>T (p.Pro763Ser) c.2178C>T c.793+3004C>T c.2182C>T (p.Pro728Ser) c.2239C>T (p.Pro747Ser) c.2188C>T (p.Pro730Ser) c.2293C>T (p.Pro765Ser) c.2200C>T (p.Pro734Ser) c.2299C>T (p.Pro767Ser) c.2329C>T (p.Pro777Ser) c.2320C>T (p.Pro774Ser) c.2290C>T (p.Pro764Ser) c.2233C>T (p.Pro745Ser) c.2179C>T (p.Pro727Ser) c.1972C>T (p.Pro658Ser) c.2386C>T (p.Pro796Ser) c.2380C>T (p.Pro794Ser) c.2377C>T (p.Pro793Ser) c.2437C>T (p.Pro813Ser) c.2428C>T (p.Pro810Ser) c.2347C>T (p.Pro783Ser) c.2296C>T (p.Pro766Ser) | |
| 14 | g.33800586C>A | CA389414349 | NPAS3 | c.2279C>A (p.Pro760His) c.2288C>A (p.Pro763His) c.2179C>A c.793+3005C>A c.2183C>A (p.Pro728His) c.2240C>A (p.Pro747His) c.2189C>A (p.Pro730His) c.2294C>A (p.Pro765His) c.2201C>A (p.Pro734His) c.2300C>A (p.Pro767His) c.2330C>A (p.Pro777His) c.2321C>A (p.Pro774His) c.2291C>A (p.Pro764His) c.2234C>A (p.Pro745His) c.2180C>A (p.Pro727His) c.1973C>A (p.Pro658His) c.2387C>A (p.Pro796His) c.2381C>A (p.Pro794His) c.2378C>A (p.Pro793His) c.2438C>A (p.Pro813His) c.2429C>A (p.Pro810His) c.2348C>A (p.Pro783His) c.2297C>A (p.Pro766His) | gnomAD v4 |
| 14 | g.33800586C>G | CA389414350 | NPAS3 | c.2279C>G (p.Pro760Arg) c.2288C>G (p.Pro763Arg) c.2179C>G c.793+3005C>G c.2183C>G (p.Pro728Arg) c.2240C>G (p.Pro747Arg) c.2189C>G (p.Pro730Arg) c.2294C>G (p.Pro765Arg) c.2201C>G (p.Pro734Arg) c.2300C>G (p.Pro767Arg) c.2330C>G (p.Pro777Arg) c.2321C>G (p.Pro774Arg) c.2291C>G (p.Pro764Arg) c.2234C>G (p.Pro745Arg) c.2180C>G (p.Pro727Arg) c.1973C>G (p.Pro658Arg) c.2387C>G (p.Pro796Arg) c.2381C>G (p.Pro794Arg) c.2378C>G (p.Pro793Arg) c.2438C>G (p.Pro813Arg) c.2429C>G (p.Pro810Arg) c.2348C>G (p.Pro783Arg) c.2297C>G (p.Pro766Arg) | gnomAD v4 |
| 14 | g.33800586C>T | CA389414351 | NPAS3 | c.2279C>T (p.Pro760Leu) c.2288C>T (p.Pro763Leu) c.2179C>T c.793+3005C>T c.2183C>T (p.Pro728Leu) c.2240C>T (p.Pro747Leu) c.2189C>T (p.Pro730Leu) c.2294C>T (p.Pro765Leu) c.2201C>T (p.Pro734Leu) c.2300C>T (p.Pro767Leu) c.2330C>T (p.Pro777Leu) c.2321C>T (p.Pro774Leu) c.2291C>T (p.Pro764Leu) c.2234C>T (p.Pro745Leu) c.2180C>T (p.Pro727Leu) c.1973C>T (p.Pro658Leu) c.2387C>T (p.Pro796Leu) c.2381C>T (p.Pro794Leu) c.2378C>T (p.Pro793Leu) c.2438C>T (p.Pro813Leu) c.2429C>T (p.Pro810Leu) c.2348C>T (p.Pro783Leu) c.2297C>T (p.Pro766Leu) | gnomAD v4 |
| 14 | g.33800587C>A | CA486093450 | NPAS3 | c.2280C>A (p.Pro760=) c.2289C>A (p.Pro763=) c.2180C>A c.793+3006C>A c.2184C>A (p.Pro728=) c.2241C>A (p.Pro747=) c.2190C>A (p.Pro730=) c.2295C>A (p.Pro765=) c.2202C>A (p.Pro734=) c.2301C>A (p.Pro767=) c.2331C>A (p.Pro777=) c.2322C>A (p.Pro774=) c.2292C>A (p.Pro764=) c.2235C>A (p.Pro745=) c.2181C>A (p.Pro727=) c.1974C>A (p.Pro658=) c.2388C>A (p.Pro796=) c.2382C>A (p.Pro794=) c.2379C>A (p.Pro793=) c.2439C>A (p.Pro813=) c.2430C>A (p.Pro810=) c.2349C>A (p.Pro783=) c.2298C>A (p.Pro766=) | gnomAD v4 |
| 14 | g.33800587C>G | CA486093451 | NPAS3 | c.2280C>G (p.Pro760=) c.2289C>G (p.Pro763=) c.2180C>G c.793+3006C>G c.2184C>G (p.Pro728=) c.2241C>G (p.Pro747=) c.2190C>G (p.Pro730=) c.2295C>G (p.Pro765=) c.2202C>G (p.Pro734=) c.2301C>G (p.Pro767=) c.2331C>G (p.Pro777=) c.2322C>G (p.Pro774=) c.2292C>G (p.Pro764=) c.2235C>G (p.Pro745=) c.2181C>G (p.Pro727=) c.1974C>G (p.Pro658=) c.2388C>G (p.Pro796=) c.2382C>G (p.Pro794=) c.2379C>G (p.Pro793=) c.2439C>G (p.Pro813=) c.2430C>G (p.Pro810=) c.2349C>G (p.Pro783=) c.2298C>G (p.Pro766=) | |
| 14 | g.33800587C>T | CA486093452 | NPAS3 | c.2280C>T (p.Pro760=) c.2289C>T (p.Pro763=) c.2180C>T c.793+3006C>T c.2184C>T (p.Pro728=) c.2241C>T (p.Pro747=) c.2190C>T (p.Pro730=) c.2295C>T (p.Pro765=) c.2202C>T (p.Pro734=) c.2301C>T (p.Pro767=) c.2331C>T (p.Pro777=) c.2322C>T (p.Pro774=) c.2292C>T (p.Pro764=) c.2235C>T (p.Pro745=) c.2181C>T (p.Pro727=) c.1974C>T (p.Pro658=) c.2388C>T (p.Pro796=) c.2382C>T (p.Pro794=) c.2379C>T (p.Pro793=) c.2439C>T (p.Pro813=) c.2430C>T (p.Pro810=) c.2349C>T (p.Pro783=) c.2298C>T (p.Pro766=) | gnomAD v4 |
| 14 | g.33800588G>A | CA389414352 | NPAS3 | c.2281G>A (p.Gly761Arg) c.2290G>A (p.Gly764Arg) c.2181G>A c.793+3007G>A c.2185G>A (p.Gly729Arg) c.2242G>A (p.Gly748Arg) c.2191G>A (p.Gly731Arg) c.2296G>A (p.Gly766Arg) c.2203G>A (p.Gly735Arg) c.2302G>A (p.Gly768Arg) c.2332G>A (p.Gly778Arg) c.2323G>A (p.Gly775Arg) c.2293G>A (p.Gly765Arg) c.2236G>A (p.Gly746Arg) c.2182G>A (p.Gly728Arg) c.1975G>A (p.Gly659Arg) c.2389G>A (p.Gly797Arg) c.2383G>A (p.Gly795Arg) c.2380G>A (p.Gly794Arg) c.2440G>A (p.Gly814Arg) c.2431G>A (p.Gly811Arg) c.2350G>A (p.Gly784Arg) c.2299G>A (p.Gly767Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800588G>C | CA389414353 | NPAS3 | c.2281G>C (p.Gly761Arg) c.2290G>C (p.Gly764Arg) c.2181G>C c.793+3007G>C c.2185G>C (p.Gly729Arg) c.2242G>C (p.Gly748Arg) c.2191G>C (p.Gly731Arg) c.2296G>C (p.Gly766Arg) c.2203G>C (p.Gly735Arg) c.2302G>C (p.Gly768Arg) c.2332G>C (p.Gly778Arg) c.2323G>C (p.Gly775Arg) c.2293G>C (p.Gly765Arg) c.2236G>C (p.Gly746Arg) c.2182G>C (p.Gly728Arg) c.1975G>C (p.Gly659Arg) c.2389G>C (p.Gly797Arg) c.2383G>C (p.Gly795Arg) c.2380G>C (p.Gly794Arg) c.2440G>C (p.Gly814Arg) c.2431G>C (p.Gly811Arg) c.2350G>C (p.Gly784Arg) c.2299G>C (p.Gly767Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800588G= | CA2128328015 | NPAS3 | c.2281G= (p.Gly761=) c.2290G= (p.Gly764=) c.2181G= c.793+3007G= c.2185G= (p.Gly729=) c.2242G= (p.Gly748=) c.2191G= (p.Gly731=) c.2296G= (p.Gly766=) c.2203G= (p.Gly735=) c.2302G= (p.Gly768=) c.2332G= (p.Gly778=) c.2323G= (p.Gly775=) c.2293G= (p.Gly765=) c.2236G= (p.Gly746=) c.2182G= (p.Gly728=) c.1975G= (p.Gly659=) c.2389G= (p.Gly797=) c.2383G= (p.Gly795=) c.2380G= (p.Gly794=) c.2440G= (p.Gly814=) c.2431G= (p.Gly811=) c.2350G= (p.Gly784=) c.2299G= (p.Gly767=) | |
| 14 | g.33800588G>T | CA389414354 | NPAS3 | c.2281G>T (p.Gly761Trp) c.2290G>T (p.Gly764Trp) c.2181G>T c.793+3007G>T c.2185G>T (p.Gly729Trp) c.2242G>T (p.Gly748Trp) c.2191G>T (p.Gly731Trp) c.2296G>T (p.Gly766Trp) c.2203G>T (p.Gly735Trp) c.2302G>T (p.Gly768Trp) c.2332G>T (p.Gly778Trp) c.2323G>T (p.Gly775Trp) c.2293G>T (p.Gly765Trp) c.2236G>T (p.Gly746Trp) c.2182G>T (p.Gly728Trp) c.1975G>T (p.Gly659Trp) c.2389G>T (p.Gly797Trp) c.2383G>T (p.Gly795Trp) c.2380G>T (p.Gly794Trp) c.2440G>T (p.Gly814Trp) c.2431G>T (p.Gly811Trp) c.2350G>T (p.Gly784Trp) c.2299G>T (p.Gly767Trp) | gnomAD v4 |
| 14 | g.33800590del | CA2624512054 | NPAS3 | c.2283del (p.Asn762ThrfsTer?) c.2292del (p.Asn765ThrfsTer?) c.2183del c.793+3009del c.2187del (p.Asn730ThrfsTer?) c.2244del (p.Asn749ThrfsTer?) c.2193del (p.Asn732ThrfsTer?) c.2298del (p.Asn767ThrfsTer?) c.2205del (p.Asn736ThrfsTer?) c.2304del (p.Asn769ThrfsTer?) c.2334del (p.Asn779ThrfsTer?) c.2325del (p.Asn776ThrfsTer?) c.2295del (p.Asn766ThrfsTer?) c.2238del (p.Asn747ThrfsTer?) c.2184del (p.Asn729ThrfsTer?) c.1977del (p.Asn660ThrfsTer?) c.2391del (p.Asn798ThrfsTer?) c.2385del (p.Asn796ThrfsTer?) c.2382del (p.Asn795ThrfsTer?) c.2442del (p.Asn815ThrfsTer?) c.2433del (p.Asn812ThrfsTer?) c.2352del (p.Asn785ThrfsTer?) c.2301del (p.Asn768ThrfsTer?) | gnomAD v4 |
| 14 | g.33800589G>A | CA389414355 | NPAS3 | c.2282G>A (p.Gly761Glu) c.2291G>A (p.Gly764Glu) c.2182G>A c.793+3008G>A c.2186G>A (p.Gly729Glu) c.2243G>A (p.Gly748Glu) c.2192G>A (p.Gly731Glu) c.2297G>A (p.Gly766Glu) c.2204G>A (p.Gly735Glu) c.2303G>A (p.Gly768Glu) c.2333G>A (p.Gly778Glu) c.2324G>A (p.Gly775Glu) c.2294G>A (p.Gly765Glu) c.2237G>A (p.Gly746Glu) c.2183G>A (p.Gly728Glu) c.1976G>A (p.Gly659Glu) c.2390G>A (p.Gly797Glu) c.2384G>A (p.Gly795Glu) c.2381G>A (p.Gly794Glu) c.2441G>A (p.Gly814Glu) c.2432G>A (p.Gly811Glu) c.2351G>A (p.Gly784Glu) c.2300G>A (p.Gly767Glu) | gnomAD v4 |
| 14 | g.33800589G>C | CA389414357 | NPAS3 | c.2282G>C (p.Gly761Ala) c.2291G>C (p.Gly764Ala) c.2182G>C c.793+3008G>C c.2186G>C (p.Gly729Ala) c.2243G>C (p.Gly748Ala) c.2192G>C (p.Gly731Ala) c.2297G>C (p.Gly766Ala) c.2204G>C (p.Gly735Ala) c.2303G>C (p.Gly768Ala) c.2333G>C (p.Gly778Ala) c.2324G>C (p.Gly775Ala) c.2294G>C (p.Gly765Ala) c.2237G>C (p.Gly746Ala) c.2183G>C (p.Gly728Ala) c.1976G>C (p.Gly659Ala) c.2390G>C (p.Gly797Ala) c.2384G>C (p.Gly795Ala) c.2381G>C (p.Gly794Ala) c.2441G>C (p.Gly814Ala) c.2432G>C (p.Gly811Ala) c.2351G>C (p.Gly784Ala) c.2300G>C (p.Gly767Ala) | |
| 14 | g.33800589G>T | CA389414356 | NPAS3 | c.2282G>T (p.Gly761Val) c.2291G>T (p.Gly764Val) c.2182G>T c.793+3008G>T c.2186G>T (p.Gly729Val) c.2243G>T (p.Gly748Val) c.2192G>T (p.Gly731Val) c.2297G>T (p.Gly766Val) c.2204G>T (p.Gly735Val) c.2303G>T (p.Gly768Val) c.2333G>T (p.Gly778Val) c.2324G>T (p.Gly775Val) c.2294G>T (p.Gly765Val) c.2237G>T (p.Gly746Val) c.2183G>T (p.Gly728Val) c.1976G>T (p.Gly659Val) c.2390G>T (p.Gly797Val) c.2384G>T (p.Gly795Val) c.2381G>T (p.Gly794Val) c.2441G>T (p.Gly814Val) c.2432G>T (p.Gly811Val) c.2351G>T (p.Gly784Val) c.2300G>T (p.Gly767Val) | gnomAD v4 |
| 14 | g.33800590G>A | CA486093455 | NPAS3 | c.2283G>A (p.Gly761=) c.2292G>A (p.Gly764=) c.2183G>A c.793+3009G>A c.2187G>A (p.Gly729=) c.2244G>A (p.Gly748=) c.2193G>A (p.Gly731=) c.2298G>A (p.Gly766=) c.2205G>A (p.Gly735=) c.2304G>A (p.Gly768=) c.2334G>A (p.Gly778=) c.2325G>A (p.Gly775=) c.2295G>A (p.Gly765=) c.2238G>A (p.Gly746=) c.2184G>A (p.Gly728=) c.1977G>A (p.Gly659=) c.2391G>A (p.Gly797=) c.2385G>A (p.Gly795=) c.2382G>A (p.Gly794=) c.2442G>A (p.Gly814=) c.2433G>A (p.Gly811=) c.2352G>A (p.Gly784=) c.2301G>A (p.Gly767=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800590G>C | CA486093456 | NPAS3 | c.2283G>C (p.Gly761=) c.2292G>C (p.Gly764=) c.2183G>C c.793+3009G>C c.2187G>C (p.Gly729=) c.2244G>C (p.Gly748=) c.2193G>C (p.Gly731=) c.2298G>C (p.Gly766=) c.2205G>C (p.Gly735=) c.2304G>C (p.Gly768=) c.2334G>C (p.Gly778=) c.2325G>C (p.Gly775=) c.2295G>C (p.Gly765=) c.2238G>C (p.Gly746=) c.2184G>C (p.Gly728=) c.1977G>C (p.Gly659=) c.2391G>C (p.Gly797=) c.2385G>C (p.Gly795=) c.2382G>C (p.Gly794=) c.2442G>C (p.Gly814=) c.2433G>C (p.Gly811=) c.2352G>C (p.Gly784=) c.2301G>C (p.Gly767=) | |
| 14 | g.33800590G>T | CA486093458 | NPAS3 | c.2283G>T (p.Gly761=) c.2292G>T (p.Gly764=) c.2183G>T c.793+3009G>T c.2187G>T (p.Gly729=) c.2244G>T (p.Gly748=) c.2193G>T (p.Gly731=) c.2298G>T (p.Gly766=) c.2205G>T (p.Gly735=) c.2304G>T (p.Gly768=) c.2334G>T (p.Gly778=) c.2325G>T (p.Gly775=) c.2295G>T (p.Gly765=) c.2238G>T (p.Gly746=) c.2184G>T (p.Gly728=) c.1977G>T (p.Gly659=) c.2391G>T (p.Gly797=) c.2385G>T (p.Gly795=) c.2382G>T (p.Gly794=) c.2442G>T (p.Gly814=) c.2433G>T (p.Gly811=) c.2352G>T (p.Gly784=) c.2301G>T (p.Gly767=) | gnomAD v4 |
| 14 | g.33800591A>C | CA389414358 | NPAS3 | c.2284A>C (p.Asn762His) c.2293A>C (p.Asn765His) c.2184A>C c.793+3010A>C c.2188A>C (p.Asn730His) c.2245A>C (p.Asn749His) c.2194A>C (p.Asn732His) c.2299A>C (p.Asn767His) c.2206A>C (p.Asn736His) c.2305A>C (p.Asn769His) c.2335A>C (p.Asn779His) c.2326A>C (p.Asn776His) c.2296A>C (p.Asn766His) c.2239A>C (p.Asn747His) c.2185A>C (p.Asn729His) c.1978A>C (p.Asn660His) c.2392A>C (p.Asn798His) c.2386A>C (p.Asn796His) c.2383A>C (p.Asn795His) c.2443A>C (p.Asn815His) c.2434A>C (p.Asn812His) c.2353A>C (p.Asn785His) c.2302A>C (p.Asn768His) | gnomAD v4 |
| 14 | g.33800591A>G | CA389414359 | NPAS3 | c.2284A>G (p.Asn762Asp) c.2293A>G (p.Asn765Asp) c.2184A>G c.793+3010A>G c.2188A>G (p.Asn730Asp) c.2245A>G (p.Asn749Asp) c.2194A>G (p.Asn732Asp) c.2299A>G (p.Asn767Asp) c.2206A>G (p.Asn736Asp) c.2305A>G (p.Asn769Asp) c.2335A>G (p.Asn779Asp) c.2326A>G (p.Asn776Asp) c.2296A>G (p.Asn766Asp) c.2239A>G (p.Asn747Asp) c.2185A>G (p.Asn729Asp) c.1978A>G (p.Asn660Asp) c.2392A>G (p.Asn798Asp) c.2386A>G (p.Asn796Asp) c.2383A>G (p.Asn795Asp) c.2443A>G (p.Asn815Asp) c.2434A>G (p.Asn812Asp) c.2353A>G (p.Asn785Asp) c.2302A>G (p.Asn768Asp) | |
| 14 | g.33800591A>T | CA389414360 | NPAS3 | c.2284A>T (p.Asn762Tyr) c.2293A>T (p.Asn765Tyr) c.2184A>T c.793+3010A>T c.2188A>T (p.Asn730Tyr) c.2245A>T (p.Asn749Tyr) c.2194A>T (p.Asn732Tyr) c.2299A>T (p.Asn767Tyr) c.2206A>T (p.Asn736Tyr) c.2305A>T (p.Asn769Tyr) c.2335A>T (p.Asn779Tyr) c.2326A>T (p.Asn776Tyr) c.2296A>T (p.Asn766Tyr) c.2239A>T (p.Asn747Tyr) c.2185A>T (p.Asn729Tyr) c.1978A>T (p.Asn660Tyr) c.2392A>T (p.Asn798Tyr) c.2386A>T (p.Asn796Tyr) c.2383A>T (p.Asn795Tyr) c.2443A>T (p.Asn815Tyr) c.2434A>T (p.Asn812Tyr) c.2353A>T (p.Asn785Tyr) c.2302A>T (p.Asn768Tyr) | |
| 14 | g.33800592A= | CA2128328020 | NPAS3 | c.2285A= (p.Asn762=) c.2294A= (p.Asn765=) c.2185A= c.793+3011A= c.2189A= (p.Asn730=) c.2246A= (p.Asn749=) c.2195A= (p.Asn732=) c.2300A= (p.Asn767=) c.2207A= (p.Asn736=) c.2306A= (p.Asn769=) c.2336A= (p.Asn779=) c.2327A= (p.Asn776=) c.2297A= (p.Asn766=) c.2240A= (p.Asn747=) c.2186A= (p.Asn729=) c.1979A= (p.Asn660=) c.2393A= (p.Asn798=) c.2387A= (p.Asn796=) c.2384A= (p.Asn795=) c.2444A= (p.Asn815=) c.2435A= (p.Asn812=) c.2354A= (p.Asn785=) c.2303A= (p.Asn768=) | |
| 14 | g.33800592A>C | CA389414361 | NPAS3 | c.2285A>C (p.Asn762Thr) c.2294A>C (p.Asn765Thr) c.2185A>C c.793+3011A>C c.2189A>C (p.Asn730Thr) c.2246A>C (p.Asn749Thr) c.2195A>C (p.Asn732Thr) c.2300A>C (p.Asn767Thr) c.2207A>C (p.Asn736Thr) c.2306A>C (p.Asn769Thr) c.2336A>C (p.Asn779Thr) c.2327A>C (p.Asn776Thr) c.2297A>C (p.Asn766Thr) c.2240A>C (p.Asn747Thr) c.2186A>C (p.Asn729Thr) c.1979A>C (p.Asn660Thr) c.2393A>C (p.Asn798Thr) c.2387A>C (p.Asn796Thr) c.2384A>C (p.Asn795Thr) c.2444A>C (p.Asn815Thr) c.2435A>C (p.Asn812Thr) c.2354A>C (p.Asn785Thr) c.2303A>C (p.Asn768Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800592A>G | CA389414362 | NPAS3 | c.2285A>G (p.Asn762Ser) c.2294A>G (p.Asn765Ser) c.2185A>G c.793+3011A>G c.2189A>G (p.Asn730Ser) c.2246A>G (p.Asn749Ser) c.2195A>G (p.Asn732Ser) c.2300A>G (p.Asn767Ser) c.2207A>G (p.Asn736Ser) c.2306A>G (p.Asn769Ser) c.2336A>G (p.Asn779Ser) c.2327A>G (p.Asn776Ser) c.2297A>G (p.Asn766Ser) c.2240A>G (p.Asn747Ser) c.2186A>G (p.Asn729Ser) c.1979A>G (p.Asn660Ser) c.2393A>G (p.Asn798Ser) c.2387A>G (p.Asn796Ser) c.2384A>G (p.Asn795Ser) c.2444A>G (p.Asn815Ser) c.2435A>G (p.Asn812Ser) c.2354A>G (p.Asn785Ser) c.2303A>G (p.Asn768Ser) | gnomAD v4 |
| 14 | g.33800592A>T | CA389414363 | NPAS3 | c.2285A>T (p.Asn762Ile) c.2294A>T (p.Asn765Ile) c.2185A>T c.793+3011A>T c.2189A>T (p.Asn730Ile) c.2246A>T (p.Asn749Ile) c.2195A>T (p.Asn732Ile) c.2300A>T (p.Asn767Ile) c.2207A>T (p.Asn736Ile) c.2306A>T (p.Asn769Ile) c.2336A>T (p.Asn779Ile) c.2327A>T (p.Asn776Ile) c.2297A>T (p.Asn766Ile) c.2240A>T (p.Asn747Ile) c.2186A>T (p.Asn729Ile) c.1979A>T (p.Asn660Ile) c.2393A>T (p.Asn798Ile) c.2387A>T (p.Asn796Ile) c.2384A>T (p.Asn795Ile) c.2444A>T (p.Asn815Ile) c.2435A>T (p.Asn812Ile) c.2354A>T (p.Asn785Ile) c.2303A>T (p.Asn768Ile) | |
| 14 | g.33800592_33800598delinsACGGCGG | CA2128328022 | NPAS3 | c.2285_2291delinsACGGCGG (p.Asn762=) c.2294_2300delinsACGGCGG (p.Asn765=) c.2185_2191delinsACGGCGG c.793+3011_793+3017delinsACGGCGG c.2189_2195delinsACGGCGG (p.Asn730=) c.2246_2252delinsACGGCGG (p.Asn749=) c.2195_2201delinsACGGCGG (p.Asn732=) c.2300_2306delinsACGGCGG (p.Asn767=) c.2207_2213delinsACGGCGG (p.Asn736=) c.2306_2312delinsACGGCGG (p.Asn769=) c.2336_2342delinsACGGCGG (p.Asn779=) c.2327_2333delinsACGGCGG (p.Asn776=) c.2297_2303delinsACGGCGG (p.Asn766=) c.2240_2246delinsACGGCGG (p.Asn747=) c.2186_2192delinsACGGCGG (p.Asn729=) c.1979_1985delinsACGGCGG (p.Asn660=) c.2393_2399delinsACGGCGG (p.Asn798=) c.2387_2393delinsACGGCGG (p.Asn796=) c.2384_2390delinsACGGCGG (p.Asn795=) c.2444_2450delinsACGGCGG (p.Asn815=) c.2435_2441delinsACGGCGG (p.Asn812=) c.2354_2360delinsACGGCGG (p.Asn785=) c.2303_2309delinsACGGCGG (p.Asn768=) | |
| 14 | g.33800593C>A | CA389414364 | NPAS3 | c.2286C>A (p.Asn762Lys) c.2295C>A (p.Asn765Lys) c.2186C>A c.793+3012C>A c.2190C>A (p.Asn730Lys) c.2247C>A (p.Asn749Lys) c.2196C>A (p.Asn732Lys) c.2301C>A (p.Asn767Lys) c.2208C>A (p.Asn736Lys) c.2307C>A (p.Asn769Lys) c.2337C>A (p.Asn779Lys) c.2328C>A (p.Asn776Lys) c.2298C>A (p.Asn766Lys) c.2241C>A (p.Asn747Lys) c.2187C>A (p.Asn729Lys) c.1980C>A (p.Asn660Lys) c.2394C>A (p.Asn798Lys) c.2388C>A (p.Asn796Lys) c.2385C>A (p.Asn795Lys) c.2445C>A (p.Asn815Lys) c.2436C>A (p.Asn812Lys) c.2355C>A (p.Asn785Lys) c.2304C>A (p.Asn768Lys) | gnomAD v4 |
| 14 | g.33800593C= | CA2128328027 | NPAS3 | c.2286C= (p.Asn762=) c.2295C= (p.Asn765=) c.2186C= c.793+3012C= c.2190C= (p.Asn730=) c.2247C= (p.Asn749=) c.2196C= (p.Asn732=) c.2301C= (p.Asn767=) c.2208C= (p.Asn736=) c.2307C= (p.Asn769=) c.2337C= (p.Asn779=) c.2328C= (p.Asn776=) c.2298C= (p.Asn766=) c.2241C= (p.Asn747=) c.2187C= (p.Asn729=) c.1980C= (p.Asn660=) c.2394C= (p.Asn798=) c.2388C= (p.Asn796=) c.2385C= (p.Asn795=) c.2445C= (p.Asn815=) c.2436C= (p.Asn812=) c.2355C= (p.Asn785=) c.2304C= (p.Asn768=) | |
| 14 | g.33800593C>G | CA389414365 | NPAS3 | c.2286C>G (p.Asn762Lys) c.2295C>G (p.Asn765Lys) c.2186C>G c.793+3012C>G c.2190C>G (p.Asn730Lys) c.2247C>G (p.Asn749Lys) c.2196C>G (p.Asn732Lys) c.2301C>G (p.Asn767Lys) c.2208C>G (p.Asn736Lys) c.2307C>G (p.Asn769Lys) c.2337C>G (p.Asn779Lys) c.2328C>G (p.Asn776Lys) c.2298C>G (p.Asn766Lys) c.2241C>G (p.Asn747Lys) c.2187C>G (p.Asn729Lys) c.1980C>G (p.Asn660Lys) c.2394C>G (p.Asn798Lys) c.2388C>G (p.Asn796Lys) c.2385C>G (p.Asn795Lys) c.2445C>G (p.Asn815Lys) c.2436C>G (p.Asn812Lys) c.2355C>G (p.Asn785Lys) c.2304C>G (p.Asn768Lys) | |
| 14 | g.33800593C>T | CA486093464 | NPAS3 | c.2286C>T (p.Asn762=) c.2295C>T (p.Asn765=) c.2186C>T c.793+3012C>T c.2190C>T (p.Asn730=) c.2247C>T (p.Asn749=) c.2196C>T (p.Asn732=) c.2301C>T (p.Asn767=) c.2208C>T (p.Asn736=) c.2307C>T (p.Asn769=) c.2337C>T (p.Asn779=) c.2328C>T (p.Asn776=) c.2298C>T (p.Asn766=) c.2241C>T (p.Asn747=) c.2187C>T (p.Asn729=) c.1980C>T (p.Asn660=) c.2394C>T (p.Asn798=) c.2388C>T (p.Asn796=) c.2385C>T (p.Asn795=) c.2445C>T (p.Asn815=) c.2436C>T (p.Asn812=) c.2355C>T (p.Asn785=) c.2304C>T (p.Asn768=) | dbSNP gnomAD v4 |
| 14 | g.33800596_33800601del | CA2128328025 | NPAS3 | c.2289_2294del (p.Gly764_Gly765del) c.2298_2303del (p.Gly767_Gly768del) c.2189_2194del c.793+3015_793+3020del c.2193_2198del (p.Gly732_Gly733del) c.2250_2255del (p.Gly751_Gly752del) c.2199_2204del (p.Gly734_Gly735del) c.2304_2309del (p.Gly769_Gly770del) c.2211_2216del (p.Gly738_Gly739del) c.2310_2315del (p.Gly771_Gly772del) c.2340_2345del (p.Gly781_Gly782del) c.2331_2336del (p.Gly778_Gly779del) c.2301_2306del (p.Gly768_Gly769del) c.2244_2249del (p.Gly749_Gly750del) c.2190_2195del (p.Gly731_Gly732del) c.1983_1988del (p.Gly662_Gly663del) c.2397_2402del (p.Gly800_Gly801del) c.2391_2396del (p.Gly798_Gly799del) c.2388_2393del (p.Gly797_Gly798del) c.2448_2453del (p.Gly817_Gly818del) c.2439_2444del (p.Gly814_Gly815del) c.2358_2363del (p.Gly787_Gly788del) c.2307_2312del (p.Gly770_Gly771del) | dbSNP gnomAD v4 |
| 14 | g.33800593_33800614delinsCGGCGGCGGGGGCGGGGGCGGG | CA2128328028 | NPAS3 | c.2286_2307delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn762=) c.2295_2316delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn765=) c.2186_2207delinsCGGCGGCGGGGGCGGGGGCGGG c.793+3012_793+3033delinsCGGCGGCGGGGGCGGGGGCGGG c.2190_2211delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn730=) c.2247_2268delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn749=) c.2196_2217delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn732=) c.2301_2322delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn767=) c.2208_2229delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn736=) c.2307_2328delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn769=) c.2337_2358delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn779=) c.2328_2349delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn776=) c.2298_2319delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn766=) c.2241_2262delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn747=) c.2187_2208delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn729=) c.1980_2001delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn660=) c.2394_2415delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn798=) c.2388_2409delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn796=) c.2385_2406delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn795=) c.2445_2466delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn815=) c.2436_2457delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn812=) c.2355_2376delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn785=) c.2304_2325delinsCGGCGGCGGGGGCGGGGGCGGG (p.Asn768=) |