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.33800567_33800574del | CA2624512050 | NPAS3 | c.2260_2267del (p.Ser754GlyfsTer?) c.2269_2276del (p.Ser757GlyfsTer?) c.2160_2167del c.793+2986_793+2993del c.2164_2171del (p.Ser722GlyfsTer?) c.2221_2228del (p.Ser741GlyfsTer?) c.2170_2177del (p.Ser724GlyfsTer?) c.2275_2282del (p.Ser759GlyfsTer?) c.2182_2189del (p.Ser728GlyfsTer?) c.2281_2288del (p.Ser761GlyfsTer?) c.2311_2318del (p.Ser771GlyfsTer?) c.2302_2309del (p.Ser768GlyfsTer?) c.2272_2279del (p.Ser758GlyfsTer?) c.2215_2222del (p.Ser739GlyfsTer?) c.2161_2168del (p.Ser721GlyfsTer?) c.1954_1961del (p.Ser652GlyfsTer?) c.2368_2375del (p.Ser790GlyfsTer?) c.2362_2369del (p.Ser788GlyfsTer?) c.2359_2366del (p.Ser787GlyfsTer?) c.2419_2426del (p.Ser807GlyfsTer?) c.2410_2417del (p.Ser804GlyfsTer?) c.2329_2336del (p.Ser777GlyfsTer?) c.2278_2285del (p.Ser760GlyfsTer?) | gnomAD v4 |
| 14 | g.33800572G>A | CA258719237 | NPAS3 | c.2265G>A (p.Pro755=) c.2274G>A (p.Pro758=) c.2165G>A c.793+2991G>A c.2169G>A (p.Pro723=) c.2226G>A (p.Pro742=) c.2175G>A (p.Pro725=) c.2280G>A (p.Pro760=) c.2187G>A (p.Pro729=) c.2286G>A (p.Pro762=) c.2316G>A (p.Pro772=) c.2307G>A (p.Pro769=) c.2277G>A (p.Pro759=) c.2220G>A (p.Pro740=) c.2166G>A (p.Pro722=) c.1959G>A (p.Pro653=) c.2373G>A (p.Pro791=) c.2367G>A (p.Pro789=) c.2364G>A (p.Pro788=) c.2424G>A (p.Pro808=) c.2415G>A (p.Pro805=) c.2334G>A (p.Pro778=) c.2283G>A (p.Pro761=) | dbSNP gnomAD v4 |
| 14 | g.33800572G>C | CA486093417 | NPAS3 | c.2265G>C (p.Pro755=) c.2274G>C (p.Pro758=) c.2165G>C c.793+2991G>C c.2169G>C (p.Pro723=) c.2226G>C (p.Pro742=) c.2175G>C (p.Pro725=) c.2280G>C (p.Pro760=) c.2187G>C (p.Pro729=) c.2286G>C (p.Pro762=) c.2316G>C (p.Pro772=) c.2307G>C (p.Pro769=) c.2277G>C (p.Pro759=) c.2220G>C (p.Pro740=) c.2166G>C (p.Pro722=) c.1959G>C (p.Pro653=) c.2373G>C (p.Pro791=) c.2367G>C (p.Pro789=) c.2364G>C (p.Pro788=) c.2424G>C (p.Pro808=) c.2415G>C (p.Pro805=) c.2334G>C (p.Pro778=) c.2283G>C (p.Pro761=) | |
| 14 | g.33800572G= | CA2128327995 | NPAS3 | c.2265G= (p.Pro755=) c.2274G= (p.Pro758=) c.2165G= c.793+2991G= c.2169G= (p.Pro723=) c.2226G= (p.Pro742=) c.2175G= (p.Pro725=) c.2280G= (p.Pro760=) c.2187G= (p.Pro729=) c.2286G= (p.Pro762=) c.2316G= (p.Pro772=) c.2307G= (p.Pro769=) c.2277G= (p.Pro759=) c.2220G= (p.Pro740=) c.2166G= (p.Pro722=) c.1959G= (p.Pro653=) c.2373G= (p.Pro791=) c.2367G= (p.Pro789=) c.2364G= (p.Pro788=) c.2424G= (p.Pro808=) c.2415G= (p.Pro805=) c.2334G= (p.Pro778=) c.2283G= (p.Pro761=) | |
| 14 | g.33800572G>T | CA486093421 | NPAS3 | c.2265G>T (p.Pro755=) c.2274G>T (p.Pro758=) c.2165G>T c.793+2991G>T c.2169G>T (p.Pro723=) c.2226G>T (p.Pro742=) c.2175G>T (p.Pro725=) c.2280G>T (p.Pro760=) c.2187G>T (p.Pro729=) c.2286G>T (p.Pro762=) c.2316G>T (p.Pro772=) c.2307G>T (p.Pro769=) c.2277G>T (p.Pro759=) c.2220G>T (p.Pro740=) c.2166G>T (p.Pro722=) c.1959G>T (p.Pro653=) c.2373G>T (p.Pro791=) c.2367G>T (p.Pro789=) c.2364G>T (p.Pro788=) c.2424G>T (p.Pro808=) c.2415G>T (p.Pro805=) c.2334G>T (p.Pro778=) c.2283G>T (p.Pro761=) | gnomAD v4 |
| 14 | g.33800573C>A | CA486093424 | NPAS3 | c.2266C>A (p.Arg756=) c.2275C>A (p.Arg759=) c.2166C>A c.793+2992C>A c.2170C>A (p.Arg724=) c.2227C>A (p.Arg743=) c.2176C>A (p.Arg726=) c.2281C>A (p.Arg761=) c.2188C>A (p.Arg730=) c.2287C>A (p.Arg763=) c.2317C>A (p.Arg773=) c.2308C>A (p.Arg770=) c.2278C>A (p.Arg760=) c.2221C>A (p.Arg741=) c.2167C>A (p.Arg723=) c.1960C>A (p.Arg654=) c.2374C>A (p.Arg792=) c.2368C>A (p.Arg790=) c.2365C>A (p.Arg789=) c.2425C>A (p.Arg809=) c.2416C>A (p.Arg806=) c.2335C>A (p.Arg779=) c.2284C>A (p.Arg762=) | gnomAD v4 |
| 14 | g.33800573C>G | CA389414318 | NPAS3 | c.2266C>G (p.Arg756Gly) c.2275C>G (p.Arg759Gly) c.2166C>G c.793+2992C>G c.2170C>G (p.Arg724Gly) c.2227C>G (p.Arg743Gly) c.2176C>G (p.Arg726Gly) c.2281C>G (p.Arg761Gly) c.2188C>G (p.Arg730Gly) c.2287C>G (p.Arg763Gly) c.2317C>G (p.Arg773Gly) c.2308C>G (p.Arg770Gly) c.2278C>G (p.Arg760Gly) c.2221C>G (p.Arg741Gly) c.2167C>G (p.Arg723Gly) c.1960C>G (p.Arg654Gly) c.2374C>G (p.Arg792Gly) c.2368C>G (p.Arg790Gly) c.2365C>G (p.Arg789Gly) c.2425C>G (p.Arg809Gly) c.2416C>G (p.Arg806Gly) c.2335C>G (p.Arg779Gly) c.2284C>G (p.Arg762Gly) | gnomAD v4 |
| 14 | g.33800573C>T | CA389414319 | NPAS3 | c.2266C>T (p.Arg756Trp) c.2275C>T (p.Arg759Trp) c.2166C>T c.793+2992C>T c.2170C>T (p.Arg724Trp) c.2227C>T (p.Arg743Trp) c.2176C>T (p.Arg726Trp) c.2281C>T (p.Arg761Trp) c.2188C>T (p.Arg730Trp) c.2287C>T (p.Arg763Trp) c.2317C>T (p.Arg773Trp) c.2308C>T (p.Arg770Trp) c.2278C>T (p.Arg760Trp) c.2221C>T (p.Arg741Trp) c.2167C>T (p.Arg723Trp) c.1960C>T (p.Arg654Trp) c.2374C>T (p.Arg792Trp) c.2368C>T (p.Arg790Trp) c.2365C>T (p.Arg789Trp) c.2425C>T (p.Arg809Trp) c.2416C>T (p.Arg806Trp) c.2335C>T (p.Arg779Trp) c.2284C>T (p.Arg762Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 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.33800574G>A | CA258719238 | NPAS3 | c.2267G>A (p.Arg756Gln) c.2276G>A (p.Arg759Gln) c.2167G>A c.793+2993G>A c.2171G>A (p.Arg724Gln) c.2228G>A (p.Arg743Gln) c.2177G>A (p.Arg726Gln) c.2282G>A (p.Arg761Gln) c.2189G>A (p.Arg730Gln) c.2288G>A (p.Arg763Gln) c.2318G>A (p.Arg773Gln) c.2309G>A (p.Arg770Gln) c.2279G>A (p.Arg760Gln) c.2222G>A (p.Arg741Gln) c.2168G>A (p.Arg723Gln) c.1961G>A (p.Arg654Gln) c.2375G>A (p.Arg792Gln) c.2369G>A (p.Arg790Gln) c.2366G>A (p.Arg789Gln) c.2426G>A (p.Arg809Gln) c.2417G>A (p.Arg806Gln) c.2336G>A (p.Arg779Gln) c.2285G>A (p.Arg762Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.33800574G>C | CA389414320 | NPAS3 | c.2267G>C (p.Arg756Pro) c.2276G>C (p.Arg759Pro) c.2167G>C c.793+2993G>C c.2171G>C (p.Arg724Pro) c.2228G>C (p.Arg743Pro) c.2177G>C (p.Arg726Pro) c.2282G>C (p.Arg761Pro) c.2189G>C (p.Arg730Pro) c.2288G>C (p.Arg763Pro) c.2318G>C (p.Arg773Pro) c.2309G>C (p.Arg770Pro) c.2279G>C (p.Arg760Pro) c.2222G>C (p.Arg741Pro) c.2168G>C (p.Arg723Pro) c.1961G>C (p.Arg654Pro) c.2375G>C (p.Arg792Pro) c.2369G>C (p.Arg790Pro) c.2366G>C (p.Arg789Pro) c.2426G>C (p.Arg809Pro) c.2417G>C (p.Arg806Pro) c.2336G>C (p.Arg779Pro) c.2285G>C (p.Arg762Pro) | |
| 14 | g.33800574G= | CA2128327998 | NPAS3 | c.2267G= (p.Arg756=) c.2276G= (p.Arg759=) c.2167G= c.793+2993G= c.2171G= (p.Arg724=) c.2228G= (p.Arg743=) c.2177G= (p.Arg726=) c.2282G= (p.Arg761=) c.2189G= (p.Arg730=) c.2288G= (p.Arg763=) c.2318G= (p.Arg773=) c.2309G= (p.Arg770=) c.2279G= (p.Arg760=) c.2222G= (p.Arg741=) c.2168G= (p.Arg723=) c.1961G= (p.Arg654=) c.2375G= (p.Arg792=) c.2369G= (p.Arg790=) c.2366G= (p.Arg789=) c.2426G= (p.Arg809=) c.2417G= (p.Arg806=) c.2336G= (p.Arg779=) c.2285G= (p.Arg762=) | |
| 14 | g.33800574G>T | CA389414321 | NPAS3 | c.2267G>T (p.Arg756Leu) c.2276G>T (p.Arg759Leu) c.2167G>T c.793+2993G>T c.2171G>T (p.Arg724Leu) c.2228G>T (p.Arg743Leu) c.2177G>T (p.Arg726Leu) c.2282G>T (p.Arg761Leu) c.2189G>T (p.Arg730Leu) c.2288G>T (p.Arg763Leu) c.2318G>T (p.Arg773Leu) c.2309G>T (p.Arg770Leu) c.2279G>T (p.Arg760Leu) c.2222G>T (p.Arg741Leu) c.2168G>T (p.Arg723Leu) c.1961G>T (p.Arg654Leu) c.2375G>T (p.Arg792Leu) c.2369G>T (p.Arg790Leu) c.2366G>T (p.Arg789Leu) c.2426G>T (p.Arg809Leu) c.2417G>T (p.Arg806Leu) c.2336G>T (p.Arg779Leu) c.2285G>T (p.Arg762Leu) | gnomAD v4 |
| 14 | g.33800575G>A | CA486093425 | NPAS3 | c.2268G>A (p.Arg756=) c.2277G>A (p.Arg759=) c.2168G>A c.793+2994G>A c.2172G>A (p.Arg724=) c.2229G>A (p.Arg743=) c.2178G>A (p.Arg726=) c.2283G>A (p.Arg761=) c.2190G>A (p.Arg730=) c.2289G>A (p.Arg763=) c.2319G>A (p.Arg773=) c.2310G>A (p.Arg770=) c.2280G>A (p.Arg760=) c.2223G>A (p.Arg741=) c.2169G>A (p.Arg723=) c.1962G>A (p.Arg654=) c.2376G>A (p.Arg792=) c.2370G>A (p.Arg790=) c.2367G>A (p.Arg789=) c.2427G>A (p.Arg809=) c.2418G>A (p.Arg806=) c.2337G>A (p.Arg779=) c.2286G>A (p.Arg762=) | dbSNP gnomAD v4 |
| 14 | g.33800575G>C | CA486093427 | NPAS3 | c.2268G>C (p.Arg756=) c.2277G>C (p.Arg759=) c.2168G>C c.793+2994G>C c.2172G>C (p.Arg724=) c.2229G>C (p.Arg743=) c.2178G>C (p.Arg726=) c.2283G>C (p.Arg761=) c.2190G>C (p.Arg730=) c.2289G>C (p.Arg763=) c.2319G>C (p.Arg773=) c.2310G>C (p.Arg770=) c.2280G>C (p.Arg760=) c.2223G>C (p.Arg741=) c.2169G>C (p.Arg723=) c.1962G>C (p.Arg654=) c.2376G>C (p.Arg792=) c.2370G>C (p.Arg790=) c.2367G>C (p.Arg789=) c.2427G>C (p.Arg809=) c.2418G>C (p.Arg806=) c.2337G>C (p.Arg779=) c.2286G>C (p.Arg762=) | |
| 14 | g.33800575G= | CA2128328000 | NPAS3 | c.2268G= (p.Arg756=) c.2277G= (p.Arg759=) c.2168G= c.793+2994G= c.2172G= (p.Arg724=) c.2229G= (p.Arg743=) c.2178G= (p.Arg726=) c.2283G= (p.Arg761=) c.2190G= (p.Arg730=) c.2289G= (p.Arg763=) c.2319G= (p.Arg773=) c.2310G= (p.Arg770=) c.2280G= (p.Arg760=) c.2223G= (p.Arg741=) c.2169G= (p.Arg723=) c.1962G= (p.Arg654=) c.2376G= (p.Arg792=) c.2370G= (p.Arg790=) c.2367G= (p.Arg789=) c.2427G= (p.Arg809=) c.2418G= (p.Arg806=) c.2337G= (p.Arg779=) c.2286G= (p.Arg762=) | |
| 14 | g.33800575G>T | CA486093429 | NPAS3 | c.2268G>T (p.Arg756=) c.2277G>T (p.Arg759=) c.2168G>T c.793+2994G>T c.2172G>T (p.Arg724=) c.2229G>T (p.Arg743=) c.2178G>T (p.Arg726=) c.2283G>T (p.Arg761=) c.2190G>T (p.Arg730=) c.2289G>T (p.Arg763=) c.2319G>T (p.Arg773=) c.2310G>T (p.Arg770=) c.2280G>T (p.Arg760=) c.2223G>T (p.Arg741=) c.2169G>T (p.Arg723=) c.1962G>T (p.Arg654=) c.2376G>T (p.Arg792=) c.2370G>T (p.Arg790=) c.2367G>T (p.Arg789=) c.2427G>T (p.Arg809=) c.2418G>T (p.Arg806=) c.2337G>T (p.Arg779=) c.2286G>T (p.Arg762=) | gnomAD v4 |
| 14 | g.33800576G>A | CA389414324 | NPAS3 | c.2269G>A (p.Asp757Asn) c.2278G>A (p.Asp760Asn) c.2169G>A c.793+2995G>A c.2173G>A (p.Asp725Asn) c.2230G>A (p.Asp744Asn) c.2179G>A (p.Asp727Asn) c.2284G>A (p.Asp762Asn) c.2191G>A (p.Asp731Asn) c.2290G>A (p.Asp764Asn) c.2320G>A (p.Asp774Asn) c.2311G>A (p.Asp771Asn) c.2281G>A (p.Asp761Asn) c.2224G>A (p.Asp742Asn) c.2170G>A (p.Asp724Asn) c.1963G>A (p.Asp655Asn) c.2377G>A (p.Asp793Asn) c.2371G>A (p.Asp791Asn) c.2368G>A (p.Asp790Asn) c.2428G>A (p.Asp810Asn) c.2419G>A (p.Asp807Asn) c.2338G>A (p.Asp780Asn) c.2287G>A (p.Asp763Asn) | gnomAD v4 |
| 14 | g.33800576G>C | CA389414322 | NPAS3 | c.2269G>C (p.Asp757His) c.2278G>C (p.Asp760His) c.2169G>C c.793+2995G>C c.2173G>C (p.Asp725His) c.2230G>C (p.Asp744His) c.2179G>C (p.Asp727His) c.2284G>C (p.Asp762His) c.2191G>C (p.Asp731His) c.2290G>C (p.Asp764His) c.2320G>C (p.Asp774His) c.2311G>C (p.Asp771His) c.2281G>C (p.Asp761His) c.2224G>C (p.Asp742His) c.2170G>C (p.Asp724His) c.1963G>C (p.Asp655His) c.2377G>C (p.Asp793His) c.2371G>C (p.Asp791His) c.2368G>C (p.Asp790His) c.2428G>C (p.Asp810His) c.2419G>C (p.Asp807His) c.2338G>C (p.Asp780His) c.2287G>C (p.Asp763His) | |
| 14 | g.33800576G>T | CA389414323 | NPAS3 | c.2269G>T (p.Asp757Tyr) c.2278G>T (p.Asp760Tyr) c.2169G>T c.793+2995G>T c.2173G>T (p.Asp725Tyr) c.2230G>T (p.Asp744Tyr) c.2179G>T (p.Asp727Tyr) c.2284G>T (p.Asp762Tyr) c.2191G>T (p.Asp731Tyr) c.2290G>T (p.Asp764Tyr) c.2320G>T (p.Asp774Tyr) c.2311G>T (p.Asp771Tyr) c.2281G>T (p.Asp761Tyr) c.2224G>T (p.Asp742Tyr) c.2170G>T (p.Asp724Tyr) c.1963G>T (p.Asp655Tyr) c.2377G>T (p.Asp793Tyr) c.2371G>T (p.Asp791Tyr) c.2368G>T (p.Asp790Tyr) c.2428G>T (p.Asp810Tyr) c.2419G>T (p.Asp807Tyr) c.2338G>T (p.Asp780Tyr) c.2287G>T (p.Asp763Tyr) | gnomAD v4 |
| 14 | g.33800577A>C | CA389414325 | NPAS3 | c.2270A>C (p.Asp757Ala) c.2279A>C (p.Asp760Ala) c.2170A>C c.793+2996A>C c.2174A>C (p.Asp725Ala) c.2231A>C (p.Asp744Ala) c.2180A>C (p.Asp727Ala) c.2285A>C (p.Asp762Ala) c.2192A>C (p.Asp731Ala) c.2291A>C (p.Asp764Ala) c.2321A>C (p.Asp774Ala) c.2312A>C (p.Asp771Ala) c.2282A>C (p.Asp761Ala) c.2225A>C (p.Asp742Ala) c.2171A>C (p.Asp724Ala) c.1964A>C (p.Asp655Ala) c.2378A>C (p.Asp793Ala) c.2372A>C (p.Asp791Ala) c.2369A>C (p.Asp790Ala) c.2429A>C (p.Asp810Ala) c.2420A>C (p.Asp807Ala) c.2339A>C (p.Asp780Ala) c.2288A>C (p.Asp763Ala) | |
| 14 | g.33800577A>G | CA389414326 | NPAS3 | c.2270A>G (p.Asp757Gly) c.2279A>G (p.Asp760Gly) c.2170A>G c.793+2996A>G c.2174A>G (p.Asp725Gly) c.2231A>G (p.Asp744Gly) c.2180A>G (p.Asp727Gly) c.2285A>G (p.Asp762Gly) c.2192A>G (p.Asp731Gly) c.2291A>G (p.Asp764Gly) c.2321A>G (p.Asp774Gly) c.2312A>G (p.Asp771Gly) c.2282A>G (p.Asp761Gly) c.2225A>G (p.Asp742Gly) c.2171A>G (p.Asp724Gly) c.1964A>G (p.Asp655Gly) c.2378A>G (p.Asp793Gly) c.2372A>G (p.Asp791Gly) c.2369A>G (p.Asp790Gly) c.2429A>G (p.Asp810Gly) c.2420A>G (p.Asp807Gly) c.2339A>G (p.Asp780Gly) c.2288A>G (p.Asp763Gly) | gnomAD v4 |
| 14 | g.33800577A>T | CA389414327 | NPAS3 | c.2270A>T (p.Asp757Val) c.2279A>T (p.Asp760Val) c.2170A>T c.793+2996A>T c.2174A>T (p.Asp725Val) c.2231A>T (p.Asp744Val) c.2180A>T (p.Asp727Val) c.2285A>T (p.Asp762Val) c.2192A>T (p.Asp731Val) c.2291A>T (p.Asp764Val) c.2321A>T (p.Asp774Val) c.2312A>T (p.Asp771Val) c.2282A>T (p.Asp761Val) c.2225A>T (p.Asp742Val) c.2171A>T (p.Asp724Val) c.1964A>T (p.Asp655Val) c.2378A>T (p.Asp793Val) c.2372A>T (p.Asp791Val) c.2369A>T (p.Asp790Val) c.2429A>T (p.Asp810Val) c.2420A>T (p.Asp807Val) c.2339A>T (p.Asp780Val) c.2288A>T (p.Asp763Val) | |
| 14 | g.33800578C>A | CA389414328 | NPAS3 | c.2271C>A (p.Asp757Glu) c.2280C>A (p.Asp760Glu) c.2171C>A c.793+2997C>A c.2175C>A (p.Asp725Glu) c.2232C>A (p.Asp744Glu) c.2181C>A (p.Asp727Glu) c.2286C>A (p.Asp762Glu) c.2193C>A (p.Asp731Glu) c.2292C>A (p.Asp764Glu) c.2322C>A (p.Asp774Glu) c.2313C>A (p.Asp771Glu) c.2283C>A (p.Asp761Glu) c.2226C>A (p.Asp742Glu) c.2172C>A (p.Asp724Glu) c.1965C>A (p.Asp655Glu) c.2379C>A (p.Asp793Glu) c.2373C>A (p.Asp791Glu) c.2370C>A (p.Asp790Glu) c.2430C>A (p.Asp810Glu) c.2421C>A (p.Asp807Glu) c.2340C>A (p.Asp780Glu) c.2289C>A (p.Asp763Glu) | gnomAD v4 |
| 14 | g.33800578C>G | CA389414329 | NPAS3 | c.2271C>G (p.Asp757Glu) c.2280C>G (p.Asp760Glu) c.2171C>G c.793+2997C>G c.2175C>G (p.Asp725Glu) c.2232C>G (p.Asp744Glu) c.2181C>G (p.Asp727Glu) c.2286C>G (p.Asp762Glu) c.2193C>G (p.Asp731Glu) c.2292C>G (p.Asp764Glu) c.2322C>G (p.Asp774Glu) c.2313C>G (p.Asp771Glu) c.2283C>G (p.Asp761Glu) c.2226C>G (p.Asp742Glu) c.2172C>G (p.Asp724Glu) c.1965C>G (p.Asp655Glu) c.2379C>G (p.Asp793Glu) c.2373C>G (p.Asp791Glu) c.2370C>G (p.Asp790Glu) c.2430C>G (p.Asp810Glu) c.2421C>G (p.Asp807Glu) c.2340C>G (p.Asp780Glu) c.2289C>G (p.Asp763Glu) | gnomAD v4 |
| 14 | g.33800578C>T | CA486093432 | NPAS3 | c.2271C>T (p.Asp757=) c.2280C>T (p.Asp760=) c.2171C>T c.793+2997C>T c.2175C>T (p.Asp725=) c.2232C>T (p.Asp744=) c.2181C>T (p.Asp727=) c.2286C>T (p.Asp762=) c.2193C>T (p.Asp731=) c.2292C>T (p.Asp764=) c.2322C>T (p.Asp774=) c.2313C>T (p.Asp771=) c.2283C>T (p.Asp761=) c.2226C>T (p.Asp742=) c.2172C>T (p.Asp724=) c.1965C>T (p.Asp655=) c.2379C>T (p.Asp793=) c.2373C>T (p.Asp791=) c.2370C>T (p.Asp790=) c.2430C>T (p.Asp810=) c.2421C>T (p.Asp807=) c.2340C>T (p.Asp780=) c.2289C>T (p.Asp763=) | |
| 14 | g.33800579A= | CA2128328004 | NPAS3 | c.2272A= (p.Lys758=) c.2281A= (p.Lys761=) c.2172A= c.793+2998A= c.2176A= (p.Lys726=) c.2233A= (p.Lys745=) c.2182A= (p.Lys728=) c.2287A= (p.Lys763=) c.2194A= (p.Lys732=) c.2293A= (p.Lys765=) c.2323A= (p.Lys775=) c.2314A= (p.Lys772=) c.2284A= (p.Lys762=) c.2227A= (p.Lys743=) c.2173A= (p.Lys725=) c.1966A= (p.Lys656=) c.2380A= (p.Lys794=) c.2374A= (p.Lys792=) c.2371A= (p.Lys791=) c.2431A= (p.Lys811=) c.2422A= (p.Lys808=) c.2341A= (p.Lys781=) c.2290A= (p.Lys764=) | |
| 14 | g.33800579A>C | CA389414330 | NPAS3 | c.2272A>C (p.Lys758Gln) c.2281A>C (p.Lys761Gln) c.2172A>C c.793+2998A>C c.2176A>C (p.Lys726Gln) c.2233A>C (p.Lys745Gln) c.2182A>C (p.Lys728Gln) c.2287A>C (p.Lys763Gln) c.2194A>C (p.Lys732Gln) c.2293A>C (p.Lys765Gln) c.2323A>C (p.Lys775Gln) c.2314A>C (p.Lys772Gln) c.2284A>C (p.Lys762Gln) c.2227A>C (p.Lys743Gln) c.2173A>C (p.Lys725Gln) c.1966A>C (p.Lys656Gln) c.2380A>C (p.Lys794Gln) c.2374A>C (p.Lys792Gln) c.2371A>C (p.Lys791Gln) c.2431A>C (p.Lys811Gln) c.2422A>C (p.Lys808Gln) c.2341A>C (p.Lys781Gln) c.2290A>C (p.Lys764Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.33800579A>G | CA389414331 | NPAS3 | c.2272A>G (p.Lys758Glu) c.2281A>G (p.Lys761Glu) c.2172A>G c.793+2998A>G c.2176A>G (p.Lys726Glu) c.2233A>G (p.Lys745Glu) c.2182A>G (p.Lys728Glu) c.2287A>G (p.Lys763Glu) c.2194A>G (p.Lys732Glu) c.2293A>G (p.Lys765Glu) c.2323A>G (p.Lys775Glu) c.2314A>G (p.Lys772Glu) c.2284A>G (p.Lys762Glu) c.2227A>G (p.Lys743Glu) c.2173A>G (p.Lys725Glu) c.1966A>G (p.Lys656Glu) c.2380A>G (p.Lys794Glu) c.2374A>G (p.Lys792Glu) c.2371A>G (p.Lys791Glu) c.2431A>G (p.Lys811Glu) c.2422A>G (p.Lys808Glu) c.2341A>G (p.Lys781Glu) c.2290A>G (p.Lys764Glu) | dbSNP gnomAD v4 |
| 14 | g.33800579A>T | CA389414332 | NPAS3 | c.2272A>T (p.Lys758Ter) c.2281A>T (p.Lys761Ter) c.2172A>T c.793+2998A>T c.2176A>T (p.Lys726Ter) c.2233A>T (p.Lys745Ter) c.2182A>T (p.Lys728Ter) c.2287A>T (p.Lys763Ter) c.2194A>T (p.Lys732Ter) c.2293A>T (p.Lys765Ter) c.2323A>T (p.Lys775Ter) c.2314A>T (p.Lys772Ter) c.2284A>T (p.Lys762Ter) c.2227A>T (p.Lys743Ter) c.2173A>T (p.Lys725Ter) c.1966A>T (p.Lys656Ter) c.2380A>T (p.Lys794Ter) c.2374A>T (p.Lys792Ter) c.2371A>T (p.Lys791Ter) c.2431A>T (p.Lys811Ter) c.2422A>T (p.Lys808Ter) c.2341A>T (p.Lys781Ter) c.2290A>T (p.Lys764Ter) | |
| 14 | g.33800580del | CA2624512052 | NPAS3 | c.2273del (p.Lys758SerfsTer?) c.2282del (p.Lys761SerfsTer?) c.2173del c.793+2999del c.2177del (p.Lys726SerfsTer?) c.2234del (p.Lys745SerfsTer?) c.2183del (p.Lys728SerfsTer?) c.2288del (p.Lys763SerfsTer?) c.2195del (p.Lys732SerfsTer?) c.2294del (p.Lys765SerfsTer?) c.2324del (p.Lys775SerfsTer?) c.2315del (p.Lys772SerfsTer?) c.2285del (p.Lys762SerfsTer?) c.2228del (p.Lys743SerfsTer?) c.2174del (p.Lys725SerfsTer?) c.1967del (p.Lys656SerfsTer?) c.2381del (p.Lys794SerfsTer?) c.2375del (p.Lys792SerfsTer?) c.2372del (p.Lys791SerfsTer?) c.2432del (p.Lys811SerfsTer?) c.2423del (p.Lys808SerfsTer?) c.2342del (p.Lys781SerfsTer?) c.2291del (p.Lys764SerfsTer?) | gnomAD v4 |
| 14 | g.33800580A>C | CA389414333 | NPAS3 | c.2273A>C (p.Lys758Thr) c.2282A>C (p.Lys761Thr) c.2173A>C c.793+2999A>C c.2177A>C (p.Lys726Thr) c.2234A>C (p.Lys745Thr) c.2183A>C (p.Lys728Thr) c.2288A>C (p.Lys763Thr) c.2195A>C (p.Lys732Thr) c.2294A>C (p.Lys765Thr) c.2324A>C (p.Lys775Thr) c.2315A>C (p.Lys772Thr) c.2285A>C (p.Lys762Thr) c.2228A>C (p.Lys743Thr) c.2174A>C (p.Lys725Thr) c.1967A>C (p.Lys656Thr) c.2381A>C (p.Lys794Thr) c.2375A>C (p.Lys792Thr) c.2372A>C (p.Lys791Thr) c.2432A>C (p.Lys811Thr) c.2423A>C (p.Lys808Thr) c.2342A>C (p.Lys781Thr) c.2291A>C (p.Lys764Thr) | |
| 14 | g.33800580A>G | CA389414334 | NPAS3 | c.2273A>G (p.Lys758Arg) c.2282A>G (p.Lys761Arg) c.2173A>G c.793+2999A>G c.2177A>G (p.Lys726Arg) c.2234A>G (p.Lys745Arg) c.2183A>G (p.Lys728Arg) c.2288A>G (p.Lys763Arg) c.2195A>G (p.Lys732Arg) c.2294A>G (p.Lys765Arg) c.2324A>G (p.Lys775Arg) c.2315A>G (p.Lys772Arg) c.2285A>G (p.Lys762Arg) c.2228A>G (p.Lys743Arg) c.2174A>G (p.Lys725Arg) c.1967A>G (p.Lys656Arg) c.2381A>G (p.Lys794Arg) c.2375A>G (p.Lys792Arg) c.2372A>G (p.Lys791Arg) c.2432A>G (p.Lys811Arg) c.2423A>G (p.Lys808Arg) c.2342A>G (p.Lys781Arg) c.2291A>G (p.Lys764Arg) | gnomAD v4 |
| 14 | g.33800580A>T | CA389414335 | NPAS3 | c.2273A>T (p.Lys758Met) c.2282A>T (p.Lys761Met) c.2173A>T c.793+2999A>T c.2177A>T (p.Lys726Met) c.2234A>T (p.Lys745Met) c.2183A>T (p.Lys728Met) c.2288A>T (p.Lys763Met) c.2195A>T (p.Lys732Met) c.2294A>T (p.Lys765Met) c.2324A>T (p.Lys775Met) c.2315A>T (p.Lys772Met) c.2285A>T (p.Lys762Met) c.2228A>T (p.Lys743Met) c.2174A>T (p.Lys725Met) c.1967A>T (p.Lys656Met) c.2381A>T (p.Lys794Met) c.2375A>T (p.Lys792Met) c.2372A>T (p.Lys791Met) c.2432A>T (p.Lys811Met) c.2423A>T (p.Lys808Met) c.2342A>T (p.Lys781Met) c.2291A>T (p.Lys764Met) | 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 |