Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.12992769_12992772delCA288074854ELAC2c.*53_*56del (n.*53_*56del)
n.2421_2424del
n.2363_2366del
n.3364_3367del
n.2080_2083del
c.1933_1936del
 dbSNP gnomAD v4
17g.12992772G>ACA8400778ELAC2c.*46C>T (n.*46C>T)
n.2414C>T
n.2356C>T
n.3357C>T
n.2073C>T
c.1926C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.12992772G=CA2248421203ELAC2c.*46C= (n.*46C=)
n.2414C=
n.2356C=
n.3357C=
n.2073C=
c.1926C=
17g.12992772G>TCA2576177845ELAC2c.*46C>A (n.*46C>A)
n.2414C>A
n.2356C>A
n.3357C>A
n.2073C>A
c.1926C>A
 dbSNP
17g.12992773_12992775delCA2636192897ELAC2c.*44_*46del (n.*44_*46del)
n.2412_2414del
n.2354_2356del
n.3355_3357del
n.2071_2073del
c.1924_1926del
 gnomAD v4
17g.12992773G>ACA726211089ELAC2c.*45C>T (n.*45C>T)
n.2413C>T
n.2355C>T
n.3356C>T
n.2072C>T
c.1925C>T
 dbSNP gnomAD v4
17g.12992773G=CA2248421205ELAC2c.*45C= (n.*45C=)
n.2413C=
n.2355C=
n.3356C=
n.2072C=
c.1925C=
17g.12992773G>TCA2248421206ELAC2c.*45C>A (n.*45C>A)
n.2413C>A
n.2355C>A
n.3356C>A
n.2072C>A
c.1925C>A
 dbSNP gnomAD v4
17g.12992774G>CCA624926679ELAC2c.*44C>G (n.*44C>G)
n.2412C>G
n.2354C>G
n.3355C>G
n.2071C>G
c.1924C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.12992774G=CA2248421209ELAC2c.*44C= (n.*44C=)
n.2412C=
n.2354C=
n.3355C=
n.2071C=
c.1924C=
17g.12992774G>TCA2576177846ELAC2c.*44C>A (n.*44C>A)
n.2412C>A
n.2354C>A
n.3355C>A
n.2071C>A
c.1924C>A
 gnomAD v4
17g.12992775G>ACA624926680ELAC2c.*43C>T (n.*43C>T)
n.2411C>T
n.2353C>T
n.3354C>T
n.2070C>T
c.1923C>T
 dbSNP gnomAD v2 gnomAD v4
17g.12992775G=CA2248421212ELAC2c.*43C= (n.*43C=)
n.2411C=
n.2353C=
n.3354C=
n.2070C=
c.1923C=
17g.12992775G>TCA2636192909ELAC2c.*43C>A (n.*43C>A)
n.2411C>A
n.2353C>A
n.3354C>A
n.2070C>A
c.1923C>A
 gnomAD v4
17g.12992776C>ACA2636192911ELAC2c.*42G>T (n.*42G>T)
n.2410G>T
n.2352G>T
n.3353G>T
n.2069G>T
c.1922G>T
 gnomAD v4
17g.12992776C>TCA2636192912ELAC2c.*42G>A (n.*42G>A)
n.2410G>A
n.2352G>A
n.3353G>A
n.2069G>A
c.1922G>A
 gnomAD v4
17g.12992777A>GCA2576177848ELAC2c.*41T>C (n.*41T>C)
n.2409T>C
n.2351T>C
n.3352T>C
n.2068T>C
c.1921T>C
17g.12992779A=CA2248421214ELAC2c.*39T= (n.*39T=)
n.2407T=
n.2349T=
n.3350T=
n.2066T=
c.1919T=
17g.12992779A>GCA2248421215ELAC2c.*39T>C (n.*39T>C)
n.2407T>C
n.2349T>C
n.3350T>C
n.2066T>C
c.1919T>C
 dbSNP
17g.12992780A>CCA2636192914ELAC2c.*38T>G (n.*38T>G)
n.2406T>G
n.2348T>G
n.3349T>G
n.2065T>G
c.1918T>G
 gnomAD v4
17g.12992781G>ACA624926681ELAC2c.*37C>T (n.*37C>T)
n.2405C>T
n.2347C>T
n.3348C>T
n.2064C>T
c.1917C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.12992781G=CA2248421216ELAC2c.*37C= (n.*37C=)
n.2405C=
n.2347C=
n.3348C=
n.2064C=
c.1917C=
17g.12992781G>TCA2636192917ELAC2c.*37C>A (n.*37C>A)
n.2405C>A
n.2347C>A
n.3348C>A
n.2064C>A
c.1917C>A
 gnomAD v4
17g.12992782A>TCA2636192920ELAC2c.*36T>A (n.*36T>A)
n.2404T>A
n.2346T>A
n.3347T>A
n.2063T>A
c.1916T>A
 gnomAD v4
17g.12992787_12992788dupCA2808527061ELAC2c.*35_*36dup (n.*35_*36dup)
n.2403_2404dup
n.2345_2346dup
n.3346_3347dup
n.2062_2063dup
c.1915_1916dup
17g.12992783C=CA2248421218ELAC2c.*35G= (n.*35G=)
n.2403G=
n.2345G=
n.3346G=
n.2062G=
c.1915G=
17g.12992783C>GCA8400780ELAC2c.*35G>C (n.*35G>C)
n.2403G>C
n.2345G>C
n.3346G>C
n.2062G>C
c.1915G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.12992783C>TCA8400779ELAC2c.*35G>A (n.*35G>A)
n.2403G>A
n.2345G>A
n.3346G>A
n.2062G>A
c.1915G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.12992784A>GCA2576177850ELAC2c.*34T>C (n.*34T>C)
n.2402T>C
n.2344T>C
n.3345T>C
n.2061T>C
c.1914T>C
 gnomAD v4
17g.12992785C>ACA8400781ELAC2c.*33G>T (n.*33G>T)
n.2401G>T
n.2343G>T
n.3344G>T
n.2060G>T
c.1913G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.12992785C=CA2248421222ELAC2c.*33G= (n.*33G=)
n.2401G=
n.2343G=
n.3344G=
n.2060G=
c.1913G=
17g.12992785C>GCA2576177852ELAC2c.*33G>C (n.*33G>C)
n.2401G>C
n.2343G>C
n.3344G>C
n.2060G>C
c.1913G>C
 gnomAD v4
17g.12992786A=CA2248421225ELAC2c.*32T= (n.*32T=)
n.2400T=
n.2342T=
n.3343T=
n.2059T=
c.1912T=
17g.12992786A>CCA2636192936ELAC2c.*32T>G (n.*32T>G)
n.2400T>G
n.2342T>G
n.3343T>G
n.2059T>G
c.1912T>G
 gnomAD v4
17g.12992786A>GCA288074873ELAC2c.*32T>C (n.*32T>C)
n.2400T>C
n.2342T>C
n.3343T>C
n.2059T>C
c.1912T>C
 dbSNP gnomAD v2 gnomAD v4
17g.12992787C=CA2248421228ELAC2c.*31G= (n.*31G=)
n.2399G=
n.2341G=
n.3342G=
n.2058G=
c.1911G=
17g.12992787C>TCA8400782ELAC2c.*31G>A (n.*31G>A)
n.2399G>A
n.2341G>A
n.3342G>A
n.2058G>A
c.1911G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.12992788A>TCA2636192938ELAC2c.*30T>A (n.*30T>A)
n.2398T>A
n.2340T>A
n.3341T>A
n.2057T>A
c.1910T>A
 gnomAD v4
17g.12992789G>CCA624926690ELAC2c.*29C>G (n.*29C>G)
n.2397C>G
n.2339C>G
n.3340C>G
n.2056C>G
c.1909C>G
 dbSNP gnomAD v2 gnomAD v4
17g.12992789G=CA2248421233ELAC2c.*29C= (n.*29C=)
n.2397C=
n.2339C=
n.3340C=
n.2056C=
c.1909C=
17g.12992789G>TCA2840256611ELAC2c.*29C>A (n.*29C>A)
n.2397C>A
n.2339C>A
n.3340C>A
n.2056C>A
c.1909C>A
17g.12992790C>ACA2840256612ELAC2c.*28G>T (n.*28G>T)
n.2396G>T
n.2338G>T
n.3339G>T
n.2055G>T
c.1908G>T
17g.12992791C=CA2248421235ELAC2c.*27G= (n.*27G=)
n.2395G=
n.2337G=
n.3338G=
n.2054G=
c.1907G=
17g.12992791C>TCA2248421236ELAC2c.*27G>A (n.*27G>A)
n.2395G>A
n.2337G>A
n.3338G>A
n.2054G>A
c.1907G>A
 dbSNP
17g.12992793_12992795delCA2636192941ELAC2c.*25_*27del (n.*25_*27del)
n.2393_2395del
n.2335_2337del
n.3336_3338del
n.2052_2054del
c.1905_1907del
 gnomAD v4
17g.12992792T>ACA2840256613ELAC2c.*26A>T (n.*26A>T)
n.2394A>T
n.2336A>T
n.3337A>T
n.2053A>T
c.1906A>T
17g.12992796G>ACA981619982ELAC2c.*22C>T (n.*22C>T)
n.2390C>T
n.2332C>T
n.3333C>T
n.2049C>T
c.1902C>T
 dbSNP gnomAD v3 gnomAD v4
17g.12992796G=CA2248421238ELAC2c.*22C= (n.*22C=)
n.2390C=
n.2332C=
n.3333C=
n.2049C=
c.1902C=
17g.12992797A=CA2248421239ELAC2c.*21T= (n.*21T=)
n.2389T=
n.2331T=
n.3332T=
n.2048T=
c.1901T=
17g.12992797A>CCA624926692ELAC2c.*21T>G (n.*21T>G)
n.2389T>G
n.2331T>G
n.3332T>G
n.2048T>G
c.1901T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.12992797A>GCA2636192949ELAC2c.*21T>C (n.*21T>C)
n.2389T>C
n.2331T>C
n.3332T>C
n.2048T>C
c.1901T>C
 gnomAD v4
17g.12992798G>ACA2636192951ELAC2c.*20C>T (n.*20C>T)
n.2388C>T
n.2330C>T
n.3331C>T
n.2047C>T
c.1900C>T
 dbSNP gnomAD v4
17g.12992799T>ACA288074876ELAC2c.*19A>T (n.*19A>T)
n.2387A>T
n.2329A>T
n.3330A>T
n.2046A>T
c.1899A>T
 dbSNP
17g.12992799T=CA2248421242ELAC2c.*19A= (n.*19A=)
n.2387A=
n.2329A=
n.3330A=
n.2046A=
c.1899A=
17g.12992800T>CCA2248421244ELAC2c.*18A>G (n.*18A>G)
n.2386A>G
n.2328A>G
n.3329A>G
n.2045A>G
c.1898A>G
 dbSNP
17g.12992800T=CA2248421243ELAC2c.*18A= (n.*18A=)
n.2386A=
n.2328A=
n.3329A=
n.2045A=
c.1898A=
17g.12992801C=CA2248421246ELAC2c.*17G= (n.*17G=)
n.2385G=
n.2327G=
n.3328G=
n.2044G=
c.1897G=
17g.12992801C>GCA8400783ELAC2c.*17G>C (n.*17G>C)
n.2385G>C
n.2327G>C
n.3328G>C
n.2044G>C
c.1897G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.12992802A=CA2248421250ELAC2c.*16T= (n.*16T=)
n.2384T=
n.2326T=
n.3327T=
n.2043T=
c.1896T=
17g.12992802A>GCA288074877ELAC2c.*16T>C (n.*16T>C)
n.2384T>C
n.2326T>C
n.3327T>C
n.2043T>C
c.1896T>C
 dbSNP gnomAD v2
17g.12992803G>CCA2636192955ELAC2c.*15C>G (n.*15C>G)
n.2383C>G
n.2325C>G
n.3326C>G
n.2042C>G
c.1895C>G
 gnomAD v4
17g.12992804G>ACA624926696ELAC2c.*14C>T (n.*14C>T)
n.2382C>T
n.2324C>T
n.3325C>T
n.2041C>T
c.1894C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.12992804G=CA2248421253ELAC2c.*14C= (n.*14C=)
n.2382C=
n.2324C=
n.3325C=
n.2041C=
c.1894C=
17g.12992804G>TCA2636192957ELAC2c.*14C>A (n.*14C>A)
n.2382C>A
n.2324C>A
n.3325C>A
n.2041C>A
c.1894C>A
 gnomAD v4
17g.12992805G>ACA8400784ELAC2c.*13C>T (n.*13C>T)
n.2381C>T
n.2323C>T
n.3324C>T
n.2040C>T
c.1893C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.12992805G=CA2248421257ELAC2c.*13C= (n.*13C=)
n.2381C=
n.2323C=
n.3324C=
n.2040C=
c.1893C=
17g.12992805G>TCA2840256614ELAC2c.*13C>A (n.*13C>A)
n.2381C>A
n.2323C>A
n.3324C>A
n.2040C>A
c.1893C>A
17g.12992807C>GCA498009547ELAC2c.*11G>C (n.*11G>C)
n.2379G>C
n.2321G>C
n.3322G>C
n.2038G>C
c.1891G>C
17g.12992809C=CA2248421259ELAC2c.*9G= (n.*9G=)
n.2377G=
n.2319G=
n.3320G=
n.2036G=
c.1889G=
17g.12992809C>TCA8400785ELAC2c.*9G>A (n.*9G>A)
n.2377G>A
n.2319G>A
n.3320G>A
n.2036G>A
c.1889G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.12992810_12992811delCA2840256615ELAC2c.*8_*9del (n.*8_*9del)
n.2376_2377del
n.2318_2319del
n.3319_3320del
n.2035_2036del
c.1888_1889del
17g.12992810C=CA2248421263ELAC2c.*8G= (n.*8G=)
n.2376G=
n.2318G=
n.3319G=
n.2035G=
c.1888G=
17g.12992810C>TCA624926699ELAC2c.*8G>A (n.*8G>A)
n.2376G>A
n.2318G>A
n.3319G>A
n.2035G>A
c.1888G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.12992811C>TCA2636192963ELAC2c.*7G>A (n.*7G>A)
n.2375G>A
n.2317G>A
n.3318G>A
n.2034G>A
c.1887G>A
 gnomAD v4
17g.12992812A=CA2248421264ELAC2c.*6T= (n.*6T=)
n.2374T=
n.2316T=
n.3317T=
n.2033T=
c.1886T=
17g.12992813G>TCA2839710227ELAC2c.*5C>A (n.*5C>A)
n.2373C>A
n.2315C>A
n.3316C>A
n.2032C>A
c.1885C>A
17g.12992813_12992815dupCA624926702ELAC2c.*3_*5dup (n.*3_*5dup)
n.2371_2373dup
n.2313_2315dup
n.3314_3316dup
n.2030_2032dup
c.1883_1885dup
 dbSNP gnomAD v2 gnomAD v4
17g.12992814A=CA2248421270ELAC2c.*4T= (n.*4T=)
n.2372T=
n.2314T=
n.3315T=
n.2031T=
c.1884T=
17g.12992814A>GCA8400786ELAC2c.*4T>C (n.*4T>C)
n.2372T>C
n.2314T>C
n.3315T>C
n.2031T>C
c.1884T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.12992816C=CA2248421274ELAC2c.*2G= (n.*2G=)
n.2370G=
n.2312G=
n.3313G=
n.2029G=
c.1882G=
17g.12992816C>TCA288074887ELAC2c.*2G>A (n.*2G>A)
n.2370G>A
n.2312G>A
n.3313G>A
n.2029G>A
c.1882G>A
 dbSNP gnomAD v3 gnomAD v4
17g.12992817T>ACA288074889ELAC2c.*1A>T (n.*1A>T)
n.2369A>T
n.2311A>T
n.3312A>T
n.2028A>T
c.1881A>T
 dbSNP
17g.12992817T>CCA2636192977ELAC2c.*1A>G (n.*1A>G)
n.2369A>G
n.2311A>G
n.3312A>G
n.2028A>G
c.1881A>G
 gnomAD v4
17g.12992817T=CA2248421276ELAC2c.*1A= (n.*1A=)
n.2369A=
n.2311A=
n.3312A=
n.2028A=
c.1881A=
17g.12992818T>ACA398221989ELAC2c.2481A>T (p.Ter827Cys)
c.2424A>T (p.Ter808Cys)
c.2361A>T (p.Ter787Cys)
n.2368A>T
n.2310A>T
n.3311A>T
n.2027A>T
c.1880A>T
c.2478A>T (p.Ter826Cys)
c.2640A>T (p.Ter880Cys)
c.2562A>T (p.Ter854Cys)
c.2559A>T (p.Ter853Cys)
c.2556A>T (p.Ter852Cys)
c.2520A>T (p.Ter840Cys)
c.2439A>T (p.Ter813Cys)
c.2358A>T (p.Ter786Cys)
c.2277A>T (p.Ter759Cys)
c.2274A>T (p.Ter758Cys)
c.2199A>T (p.Ter733Cys)
c.2196A>T (p.Ter732Cys)
17g.12992818T>CCA288074902ELAC2c.2481A>G (p.Ter827Trp)
c.2424A>G (p.Ter808Trp)
c.2361A>G (p.Ter787Trp)
n.2368A>G
n.2310A>G
n.3311A>G
n.2027A>G
c.1880A>G
c.2478A>G (p.Ter826Trp)
c.2640A>G (p.Ter880Trp)
c.2562A>G (p.Ter854Trp)
c.2559A>G (p.Ter853Trp)
c.2556A>G (p.Ter852Trp)
c.2520A>G (p.Ter840Trp)
c.2439A>G (p.Ter813Trp)
c.2358A>G (p.Ter786Trp)
c.2277A>G (p.Ter759Trp)
c.2274A>G (p.Ter758Trp)
c.2199A>G (p.Ter733Trp)
c.2196A>G (p.Ter732Trp)
 dbSNP gnomAD v3 gnomAD v4
17g.12992818T>GCA398221990ELAC2c.2481A>C (p.Ter827Cys)
c.2424A>C (p.Ter808Cys)
c.2361A>C (p.Ter787Cys)
n.2368A>C
n.2310A>C
n.3311A>C
n.2027A>C
c.1880A>C
c.2478A>C (p.Ter826Cys)
c.2640A>C (p.Ter880Cys)
c.2562A>C (p.Ter854Cys)
c.2559A>C (p.Ter853Cys)
c.2556A>C (p.Ter852Cys)
c.2520A>C (p.Ter840Cys)
c.2439A>C (p.Ter813Cys)
c.2358A>C (p.Ter786Cys)
c.2277A>C (p.Ter759Cys)
c.2274A>C (p.Ter758Cys)
c.2199A>C (p.Ter733Cys)
c.2196A>C (p.Ter732Cys)
17g.12992818T=CA2248421280ELAC2c.2481A= (p.Ter827=)
c.2424A= (p.Ter808=)
c.2361A= (p.Ter787=)
n.2368A=
n.2310A=
n.3311A=
n.2027A=
c.1880A=
c.2478A= (p.Ter826=)
c.2640A= (p.Ter880=)
c.2562A= (p.Ter854=)
c.2559A= (p.Ter853=)
c.2556A= (p.Ter852=)
c.2520A= (p.Ter840=)
c.2439A= (p.Ter813=)
c.2358A= (p.Ter786=)
c.2277A= (p.Ter759=)
c.2274A= (p.Ter758=)
c.2199A= (p.Ter733=)
c.2196A= (p.Ter732=)
17g.12992819C>ACA398221991ELAC2c.2480G>T (p.Ter827Leu)
c.2423G>T (p.Ter808Leu)
c.2360G>T (p.Ter787Leu)
n.2367G>T
n.2309G>T
n.3310G>T
n.2026G>T
c.1879G>T
c.2477G>T (p.Ter826Leu)
c.2639G>T (p.Ter880Leu)
c.2561G>T (p.Ter854Leu)
c.2558G>T (p.Ter853Leu)
c.2555G>T (p.Ter852Leu)
c.2519G>T (p.Ter840Leu)
c.2438G>T (p.Ter813Leu)
c.2357G>T (p.Ter786Leu)
c.2276G>T (p.Ter759Leu)
c.2273G>T (p.Ter758Leu)
c.2198G>T (p.Ter733Leu)
c.2195G>T (p.Ter732Leu)
17g.12992819C=CA2248421284ELAC2c.2480G= (p.Ter827=)
c.2423G= (p.Ter808=)
c.2360G= (p.Ter787=)
n.2367G=
n.2309G=
n.3310G=
n.2026G=
c.1879G=
c.2477G= (p.Ter826=)
c.2639G= (p.Ter880=)
c.2561G= (p.Ter854=)
c.2558G= (p.Ter853=)
c.2555G= (p.Ter852=)
c.2519G= (p.Ter840=)
c.2438G= (p.Ter813=)
c.2357G= (p.Ter786=)
c.2276G= (p.Ter759=)
c.2273G= (p.Ter758=)
c.2198G= (p.Ter733=)
c.2195G= (p.Ter732=)
17g.12992819C>GCA398221992ELAC2c.2480G>C (p.Ter827Ser)
c.2423G>C (p.Ter808Ser)
c.2360G>C (p.Ter787Ser)
n.2367G>C
n.2309G>C
n.3310G>C
n.2026G>C
c.1879G>C
c.2477G>C (p.Ter826Ser)
c.2639G>C (p.Ter880Ser)
c.2561G>C (p.Ter854Ser)
c.2558G>C (p.Ter853Ser)
c.2555G>C (p.Ter852Ser)
c.2519G>C (p.Ter840Ser)
c.2438G>C (p.Ter813Ser)
c.2357G>C (p.Ter786Ser)
c.2276G>C (p.Ter759Ser)
c.2273G>C (p.Ter758Ser)
c.2198G>C (p.Ter733Ser)
c.2195G>C (p.Ter732Ser)
17g.12992819C>TCA288074904ELAC2c.2480G>A (p.Ter827=)
c.2423G>A (p.Ter808=)
c.2360G>A (p.Ter787=)
n.2367G>A
n.2309G>A
n.3310G>A
n.2026G>A
c.1879G>A
c.2477G>A (p.Ter826=)
c.2639G>A (p.Ter880=)
c.2561G>A (p.Ter854=)
c.2558G>A (p.Ter853=)
c.2555G>A (p.Ter852=)
c.2519G>A (p.Ter840=)
c.2438G>A (p.Ter813=)
c.2357G>A (p.Ter786=)
c.2276G>A (p.Ter759=)
c.2273G>A (p.Ter758=)
c.2198G>A (p.Ter733=)
c.2195G>A (p.Ter732=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.12992820A>CCA398221993ELAC2c.2479T>G (p.Ter827Gly)
c.2422T>G (p.Ter808Gly)
c.2359T>G (p.Ter787Gly)
n.2366T>G
n.2308T>G
n.3309T>G
n.2025T>G
c.1878T>G
c.2476T>G (p.Ter826Gly)
c.2638T>G (p.Ter880Gly)
c.2560T>G (p.Ter854Gly)
c.2557T>G (p.Ter853Gly)
c.2554T>G (p.Ter852Gly)
c.2518T>G (p.Ter840Gly)
c.2437T>G (p.Ter813Gly)
c.2356T>G (p.Ter786Gly)
c.2275T>G (p.Ter759Gly)
c.2272T>G (p.Ter758Gly)
c.2197T>G (p.Ter733Gly)
c.2194T>G (p.Ter732Gly)
17g.12992820A>GCA398221995ELAC2c.2479T>C (p.Ter827Arg)
c.2422T>C (p.Ter808Arg)
c.2359T>C (p.Ter787Arg)
n.2366T>C
n.2308T>C
n.3309T>C
n.2025T>C
c.1878T>C
c.2476T>C (p.Ter826Arg)
c.2638T>C (p.Ter880Arg)
c.2560T>C (p.Ter854Arg)
c.2557T>C (p.Ter853Arg)
c.2554T>C (p.Ter852Arg)
c.2518T>C (p.Ter840Arg)
c.2437T>C (p.Ter813Arg)
c.2356T>C (p.Ter786Arg)
c.2275T>C (p.Ter759Arg)
c.2272T>C (p.Ter758Arg)
c.2197T>C (p.Ter733Arg)
c.2194T>C (p.Ter732Arg)
17g.12992820A>TCA398221994ELAC2c.2479T>A (p.Ter827Arg)
c.2422T>A (p.Ter808Arg)
c.2359T>A (p.Ter787Arg)
n.2366T>A
n.2308T>A
n.3309T>A
n.2025T>A
c.1878T>A
c.2476T>A (p.Ter826Arg)
c.2638T>A (p.Ter880Arg)
c.2560T>A (p.Ter854Arg)
c.2557T>A (p.Ter853Arg)
c.2554T>A (p.Ter852Arg)
c.2518T>A (p.Ter840Arg)
c.2437T>A (p.Ter813Arg)
c.2356T>A (p.Ter786Arg)
c.2275T>A (p.Ter759Arg)
c.2272T>A (p.Ter758Arg)
c.2197T>A (p.Ter733Arg)
c.2194T>A (p.Ter732Arg)
17g.12992821C>ACA398221996ELAC2c.2478G>T (p.Gln826His)
c.2421G>T (p.Gln807His)
c.2358G>T (p.Gln786His)
n.2365G>T
n.2307G>T
n.3308G>T
n.2024G>T
c.1877G>T
c.2475G>T (p.Gln825His)
c.2637G>T (p.Gln879His)
c.2559G>T (p.Gln853His)
c.2556G>T (p.Gln852His)
c.2553G>T (p.Gln851His)
c.2517G>T (p.Gln839His)
c.2436G>T (p.Gln812His)
c.2355G>T (p.Gln785His)
c.2274G>T (p.Gln758His)
c.2271G>T (p.Gln757His)
c.2196G>T (p.Gln732His)
c.2193G>T (p.Gln731His)
17g.12992821C>GCA398221997ELAC2c.2478G>C (p.Gln826His)
c.2421G>C (p.Gln807His)
c.2358G>C (p.Gln786His)
n.2365G>C
n.2307G>C
n.3308G>C
n.2024G>C
c.1877G>C
c.2475G>C (p.Gln825His)
c.2637G>C (p.Gln879His)
c.2559G>C (p.Gln853His)
c.2556G>C (p.Gln852His)
c.2553G>C (p.Gln851His)
c.2517G>C (p.Gln839His)
c.2436G>C (p.Gln812His)
c.2355G>C (p.Gln785His)
c.2274G>C (p.Gln758His)
c.2271G>C (p.Gln757His)
c.2196G>C (p.Gln732His)
c.2193G>C (p.Gln731His)
17g.12992821C>TCA498009550ELAC2c.2478G>A (p.Gln826=)
c.2421G>A (p.Gln807=)
c.2358G>A (p.Gln786=)
n.2365G>A
n.2307G>A
n.3308G>A
n.2024G>A
c.1877G>A
c.2475G>A (p.Gln825=)
c.2637G>A (p.Gln879=)
c.2559G>A (p.Gln853=)
c.2556G>A (p.Gln852=)
c.2553G>A (p.Gln851=)
c.2517G>A (p.Gln839=)
c.2436G>A (p.Gln812=)
c.2355G>A (p.Gln785=)
c.2274G>A (p.Gln758=)
c.2271G>A (p.Gln757=)
c.2196G>A (p.Gln732=)
c.2193G>A (p.Gln731=)
17g.12992822T>ACA398221998ELAC2c.2477A>T (p.Gln826Leu)
c.2420A>T (p.Gln807Leu)
c.2357A>T (p.Gln786Leu)
n.2364A>T
n.2306A>T
n.3307A>T
n.2023A>T
c.1876A>T
c.2474A>T (p.Gln825Leu)
c.2636A>T (p.Gln879Leu)
c.2558A>T (p.Gln853Leu)
c.2555A>T (p.Gln852Leu)
c.2552A>T (p.Gln851Leu)
c.2516A>T (p.Gln839Leu)
c.2435A>T (p.Gln812Leu)
c.2354A>T (p.Gln785Leu)
c.2273A>T (p.Gln758Leu)
c.2270A>T (p.Gln757Leu)
c.2195A>T (p.Gln732Leu)
c.2192A>T (p.Gln731Leu)
17g.12992822T>CCA398221999ELAC2c.2477A>G (p.Gln826Arg)
c.2420A>G (p.Gln807Arg)
c.2357A>G (p.Gln786Arg)
n.2364A>G
n.2306A>G
n.3307A>G
n.2023A>G
c.1876A>G
c.2474A>G (p.Gln825Arg)
c.2636A>G (p.Gln879Arg)
c.2558A>G (p.Gln853Arg)
c.2555A>G (p.Gln852Arg)
c.2552A>G (p.Gln851Arg)
c.2516A>G (p.Gln839Arg)
c.2435A>G (p.Gln812Arg)
c.2354A>G (p.Gln785Arg)
c.2273A>G (p.Gln758Arg)
c.2270A>G (p.Gln757Arg)
c.2195A>G (p.Gln732Arg)
c.2192A>G (p.Gln731Arg)
 gnomAD v4
17g.12992822T>GCA398222000ELAC2c.2477A>C (p.Gln826Pro)
c.2420A>C (p.Gln807Pro)
c.2357A>C (p.Gln786Pro)
n.2364A>C
n.2306A>C
n.3307A>C
n.2023A>C
c.1876A>C
c.2474A>C (p.Gln825Pro)
c.2636A>C (p.Gln879Pro)
c.2558A>C (p.Gln853Pro)
c.2555A>C (p.Gln852Pro)
c.2552A>C (p.Gln851Pro)
c.2516A>C (p.Gln839Pro)
c.2435A>C (p.Gln812Pro)
c.2354A>C (p.Gln785Pro)
c.2273A>C (p.Gln758Pro)
c.2270A>C (p.Gln757Pro)
c.2195A>C (p.Gln732Pro)
c.2192A>C (p.Gln731Pro)
 gnomAD v4
17g.12992825_12992840delCA645591207ELAC2c.2462_2477del (p.Lys821SerfsTer?)
c.2405_2420del (p.Lys802SerfsTer?)
c.2342_2357del (p.Lys781SerfsTer?)
n.2349_2364del
n.2291_2306del
n.3292_3307del
n.2008_2023del
c.1861_1876del
c.2459_2474del (p.Lys820SerfsTer?)
c.2621_2636del (p.Lys874SerfsTer?)
c.2543_2558del (p.Lys848SerfsTer?)
c.2540_2555del (p.Lys847SerfsTer?)
c.2537_2552del (p.Lys846SerfsTer?)
c.2501_2516del (p.Lys834SerfsTer?)
c.2420_2435del (p.Lys807SerfsTer?)
c.2339_2354del (p.Lys780SerfsTer?)
c.2258_2273del (p.Lys753SerfsTer?)
c.2255_2270del (p.Lys752SerfsTer?)
c.2180_2195del (p.Lys727SerfsTer?)
c.2177_2192del (p.Lys726SerfsTer?)
 COSMIC
17g.12992823G>ACA398222001ELAC2c.2476C>T (p.Gln826Ter)
c.2419C>T (p.Gln807Ter)
c.2356C>T (p.Gln786Ter)
n.2363C>T
n.2305C>T
n.3306C>T
n.2022C>T
c.1875C>T
c.2473C>T (p.Gln825Ter)
c.2635C>T (p.Gln879Ter)
c.2557C>T (p.Gln853Ter)
c.2554C>T (p.Gln852Ter)
c.2551C>T (p.Gln851Ter)
c.2515C>T (p.Gln839Ter)
c.2434C>T (p.Gln812Ter)
c.2353C>T (p.Gln785Ter)
c.2272C>T (p.Gln758Ter)
c.2269C>T (p.Gln757Ter)
c.2194C>T (p.Gln732Ter)
c.2191C>T (p.Gln731Ter)
 gnomAD v4
17g.12992823G>CCA398222002ELAC2c.2476C>G (p.Gln826Glu)
c.2419C>G (p.Gln807Glu)
c.2356C>G (p.Gln786Glu)
n.2363C>G
n.2305C>G
n.3306C>G
n.2022C>G
c.1875C>G
c.2473C>G (p.Gln825Glu)
c.2635C>G (p.Gln879Glu)
c.2557C>G (p.Gln853Glu)
c.2554C>G (p.Gln852Glu)
c.2551C>G (p.Gln851Glu)
c.2515C>G (p.Gln839Glu)
c.2434C>G (p.Gln812Glu)
c.2353C>G (p.Gln785Glu)
c.2272C>G (p.Gln758Glu)
c.2269C>G (p.Gln757Glu)
c.2194C>G (p.Gln732Glu)
c.2191C>G (p.Gln731Glu)
17g.12992823G>TCA398222003ELAC2c.2476C>A (p.Gln826Lys)
c.2419C>A (p.Gln807Lys)
c.2356C>A (p.Gln786Lys)
n.2363C>A
n.2305C>A
n.3306C>A
n.2022C>A
c.1875C>A
c.2473C>A (p.Gln825Lys)
c.2635C>A (p.Gln879Lys)
c.2557C>A (p.Gln853Lys)
c.2554C>A (p.Gln852Lys)
c.2551C>A (p.Gln851Lys)
c.2515C>A (p.Gln839Lys)
c.2434C>A (p.Gln812Lys)
c.2353C>A (p.Gln785Lys)
c.2272C>A (p.Gln758Lys)
c.2269C>A (p.Gln757Lys)
c.2194C>A (p.Gln732Lys)
c.2191C>A (p.Gln731Lys)
17g.12992824G>ACA498009551ELAC2c.2475C>T (p.Ala825=)
c.2418C>T (p.Ala806=)
c.2355C>T (p.Ala785=)
n.2362C>T
n.2304C>T
n.3305C>T
n.2021C>T
c.1874C>T
c.2472C>T (p.Ala824=)
c.2634C>T (p.Ala878=)
c.2556C>T (p.Ala852=)
c.2553C>T (p.Ala851=)
c.2550C>T (p.Ala850=)
c.2514C>T (p.Ala838=)
c.2433C>T (p.Ala811=)
c.2352C>T (p.Ala784=)
c.2271C>T (p.Ala757=)
c.2268C>T (p.Ala756=)
c.2193C>T (p.Ala731=)
c.2190C>T (p.Ala730=)
17g.12992824G>CCA498009552ELAC2c.2475C>G (p.Ala825=)
c.2418C>G (p.Ala806=)
c.2355C>G (p.Ala785=)
n.2362C>G
n.2304C>G
n.3305C>G
n.2021C>G
c.1874C>G
c.2472C>G (p.Ala824=)
c.2634C>G (p.Ala878=)
c.2556C>G (p.Ala852=)
c.2553C>G (p.Ala851=)
c.2550C>G (p.Ala850=)
c.2514C>G (p.Ala838=)
c.2433C>G (p.Ala811=)
c.2352C>G (p.Ala784=)
c.2271C>G (p.Ala757=)
c.2268C>G (p.Ala756=)
c.2193C>G (p.Ala731=)
c.2190C>G (p.Ala730=)
17g.12992824G>TCA498009553ELAC2c.2475C>A (p.Ala825=)
c.2418C>A (p.Ala806=)
c.2355C>A (p.Ala785=)
n.2362C>A
n.2304C>A
n.3305C>A
n.2021C>A
c.1874C>A
c.2472C>A (p.Ala824=)
c.2634C>A (p.Ala878=)
c.2556C>A (p.Ala852=)
c.2553C>A (p.Ala851=)
c.2550C>A (p.Ala850=)
c.2514C>A (p.Ala838=)
c.2433C>A (p.Ala811=)
c.2352C>A (p.Ala784=)
c.2271C>A (p.Ala757=)
c.2268C>A (p.Ala756=)
c.2193C>A (p.Ala731=)
c.2190C>A (p.Ala730=)
17g.12992824_12992838delinsGGCTCTGACCTTCTTCA2248421286ELAC2c.2461_2475delinsAAGAAGGTCAGAGCC (p.Lys821=)
c.2404_2418delinsAAGAAGGTCAGAGCC (p.Lys802=)
c.2341_2355delinsAAGAAGGTCAGAGCC (p.Lys781=)
n.2348_2362delinsAAGAAGGTCAGAGCC
n.2290_2304delinsAAGAAGGTCAGAGCC
n.3291_3305delinsAAGAAGGTCAGAGCC
n.2007_2021delinsAAGAAGGTCAGAGCC
c.1860_1874delinsAAGAAGGTCAGAGCC
c.2458_2472delinsAAGAAGGTCAGAGCC (p.Lys820=)
c.2620_2634delinsAAGAAGGTCAGAGCC (p.Lys874=)
c.2542_2556delinsAAGAAGGTCAGAGCC (p.Lys848=)
c.2539_2553delinsAAGAAGGTCAGAGCC (p.Lys847=)
c.2536_2550delinsAAGAAGGTCAGAGCC (p.Lys846=)
c.2500_2514delinsAAGAAGGTCAGAGCC (p.Lys834=)
c.2419_2433delinsAAGAAGGTCAGAGCC (p.Lys807=)
c.2338_2352delinsAAGAAGGTCAGAGCC (p.Lys780=)
c.2257_2271delinsAAGAAGGTCAGAGCC (p.Lys753=)
c.2254_2268delinsAAGAAGGTCAGAGCC (p.Lys752=)
c.2179_2193delinsAAGAAGGTCAGAGCC (p.Lys727=)
c.2176_2190delinsAAGAAGGTCAGAGCC (p.Lys726=)
17g.12992825G>ACA398222004ELAC2c.2474C>T (p.Ala825Val)
c.2417C>T (p.Ala806Val)
c.2354C>T (p.Ala785Val)
n.2361C>T
n.2303C>T
n.3304C>T
n.2020C>T
c.1873C>T
c.2471C>T (p.Ala824Val)
c.2633C>T (p.Ala878Val)
c.2555C>T (p.Ala852Val)
c.2552C>T (p.Ala851Val)
c.2549C>T (p.Ala850Val)
c.2513C>T (p.Ala838Val)
c.2432C>T (p.Ala811Val)
c.2351C>T (p.Ala784Val)
c.2270C>T (p.Ala757Val)
c.2267C>T (p.Ala756Val)
c.2192C>T (p.Ala731Val)
c.2189C>T (p.Ala730Val)
 dbSNP gnomAD v2 gnomAD v4
17g.12992825G>CCA398222005ELAC2c.2474C>G (p.Ala825Gly)
c.2417C>G (p.Ala806Gly)
c.2354C>G (p.Ala785Gly)
n.2361C>G
n.2303C>G
n.3304C>G
n.2020C>G
c.1873C>G
c.2471C>G (p.Ala824Gly)
c.2633C>G (p.Ala878Gly)
c.2555C>G (p.Ala852Gly)
c.2552C>G (p.Ala851Gly)
c.2549C>G (p.Ala850Gly)
c.2513C>G (p.Ala838Gly)
c.2432C>G (p.Ala811Gly)
c.2351C>G (p.Ala784Gly)
c.2270C>G (p.Ala757Gly)
c.2267C>G (p.Ala756Gly)
c.2192C>G (p.Ala731Gly)
c.2189C>G (p.Ala730Gly)
17g.12992825G=CA2248421289ELAC2c.2474C= (p.Ala825=)
c.2417C= (p.Ala806=)
c.2354C= (p.Ala785=)
n.2361C=
n.2303C=
n.3304C=
n.2020C=
c.1873C=
c.2471C= (p.Ala824=)
c.2633C= (p.Ala878=)
c.2555C= (p.Ala852=)
c.2552C= (p.Ala851=)
c.2549C= (p.Ala850=)
c.2513C= (p.Ala838=)
c.2432C= (p.Ala811=)
c.2351C= (p.Ala784=)
c.2270C= (p.Ala757=)
c.2267C= (p.Ala756=)
c.2192C= (p.Ala731=)
c.2189C= (p.Ala730=)
17g.12992825G>TCA398222006ELAC2c.2474C>A (p.Ala825Asp)
c.2417C>A (p.Ala806Asp)
c.2354C>A (p.Ala785Asp)
n.2361C>A
n.2303C>A
n.3304C>A
n.2020C>A
c.1873C>A
c.2471C>A (p.Ala824Asp)
c.2633C>A (p.Ala878Asp)
c.2555C>A (p.Ala852Asp)
c.2552C>A (p.Ala851Asp)
c.2549C>A (p.Ala850Asp)
c.2513C>A (p.Ala838Asp)
c.2432C>A (p.Ala811Asp)
c.2351C>A (p.Ala784Asp)
c.2270C>A (p.Ala757Asp)
c.2267C>A (p.Ala756Asp)
c.2192C>A (p.Ala731Asp)
c.2189C>A (p.Ala730Asp)
17g.12992826_12992839delCA624926705ELAC2c.2461_2474del (p.Lys821ProfsTer?)
c.2404_2417del (p.Lys802ProfsTer?)
c.2341_2354del (p.Lys781ProfsTer?)
n.2348_2361del
n.2290_2303del
n.3291_3304del
n.2007_2020del
c.1860_1873del
c.2458_2471del (p.Lys820ProfsTer?)
c.2620_2633del (p.Lys874ProfsTer?)
c.2542_2555del (p.Lys848ProfsTer?)
c.2539_2552del (p.Lys847ProfsTer?)
c.2536_2549del (p.Lys846ProfsTer?)
c.2500_2513del (p.Lys834ProfsTer?)
c.2419_2432del (p.Lys807ProfsTer?)
c.2338_2351del (p.Lys780ProfsTer?)
c.2257_2270del (p.Lys753ProfsTer?)
c.2254_2267del (p.Lys752ProfsTer?)
c.2179_2192del (p.Lys727ProfsTer?)
c.2176_2189del (p.Lys726ProfsTer?)
 dbSNP gnomAD v2 gnomAD v4
17g.12992826C>ACA398222009ELAC2c.2473G>T (p.Ala825Ser)
c.2416G>T (p.Ala806Ser)
c.2353G>T (p.Ala785Ser)
n.2360G>T
n.2302G>T
n.3303G>T
n.2019G>T
c.1872G>T
c.2470G>T (p.Ala824Ser)
c.2632G>T (p.Ala878Ser)
c.2554G>T (p.Ala852Ser)
c.2551G>T (p.Ala851Ser)
c.2548G>T (p.Ala850Ser)
c.2512G>T (p.Ala838Ser)
c.2431G>T (p.Ala811Ser)
c.2350G>T (p.Ala784Ser)
c.2269G>T (p.Ala757Ser)
c.2266G>T (p.Ala756Ser)
c.2191G>T (p.Ala731Ser)
c.2188G>T (p.Ala730Ser)
17g.12992826C>GCA398222007ELAC2c.2473G>C (p.Ala825Pro)
c.2416G>C (p.Ala806Pro)
c.2353G>C (p.Ala785Pro)
n.2360G>C
n.2302G>C
n.3303G>C
n.2019G>C
c.1872G>C
c.2470G>C (p.Ala824Pro)
c.2632G>C (p.Ala878Pro)
c.2554G>C (p.Ala852Pro)
c.2551G>C (p.Ala851Pro)
c.2548G>C (p.Ala850Pro)
c.2512G>C (p.Ala838Pro)
c.2431G>C (p.Ala811Pro)
c.2350G>C (p.Ala784Pro)
c.2269G>C (p.Ala757Pro)
c.2266G>C (p.Ala756Pro)
c.2191G>C (p.Ala731Pro)
c.2188G>C (p.Ala730Pro)
17g.12992826C>TCA398222008ELAC2c.2473G>A (p.Ala825Thr)
c.2416G>A (p.Ala806Thr)
c.2353G>A (p.Ala785Thr)
n.2360G>A
n.2302G>A
n.3303G>A
n.2019G>A
c.1872G>A
c.2470G>A (p.Ala824Thr)
c.2632G>A (p.Ala878Thr)
c.2554G>A (p.Ala852Thr)
c.2551G>A (p.Ala851Thr)
c.2548G>A (p.Ala850Thr)
c.2512G>A (p.Ala838Thr)
c.2431G>A (p.Ala811Thr)
c.2350G>A (p.Ala784Thr)
c.2269G>A (p.Ala757Thr)
c.2266G>A (p.Ala756Thr)
c.2191G>A (p.Ala731Thr)
c.2188G>A (p.Ala730Thr)
17g.12992828_12992829delCA2580612852ELAC2c.2472_2473del (p.Arg824SerfsTer?)
c.2415_2416del (p.Arg805SerfsTer?)
c.2352_2353del (p.Arg784SerfsTer?)
n.2359_2360del
n.2301_2302del
n.3302_3303del
n.2018_2019del
c.1871_1872del
c.2469_2470del (p.Arg823SerfsTer?)
c.2631_2632del (p.Arg877SerfsTer?)
c.2553_2554del (p.Arg851SerfsTer?)
c.2550_2551del (p.Arg850SerfsTer?)
c.2547_2548del (p.Arg849SerfsTer?)
c.2511_2512del (p.Arg837SerfsTer?)
c.2430_2431del (p.Arg810SerfsTer?)
c.2349_2350del (p.Arg783SerfsTer?)
c.2268_2269del (p.Arg756SerfsTer?)
c.2265_2266del (p.Arg755SerfsTer?)
c.2190_2191del (p.Arg730SerfsTer?)
c.2187_2188del (p.Arg729SerfsTer?)
 ClinVar dbSNP
17g.12992827T>ACA398222010ELAC2c.2472A>T (p.Arg824Ser)
c.2415A>T (p.Arg805Ser)
c.2352A>T (p.Arg784Ser)
n.2359A>T
n.2301A>T
n.3302A>T
n.2018A>T
c.1871A>T
c.2469A>T (p.Arg823Ser)
c.2631A>T (p.Arg877Ser)
c.2553A>T (p.Arg851Ser)
c.2550A>T (p.Arg850Ser)
c.2547A>T (p.Arg849Ser)
c.2511A>T (p.Arg837Ser)
c.2430A>T (p.Arg810Ser)
c.2349A>T (p.Arg783Ser)
c.2268A>T (p.Arg756Ser)
c.2265A>T (p.Arg755Ser)
c.2190A>T (p.Arg730Ser)
c.2187A>T (p.Arg729Ser)
17g.12992827T>CCA498009554ELAC2c.2472A>G (p.Arg824=)
c.2415A>G (p.Arg805=)
c.2352A>G (p.Arg784=)
n.2359A>G
n.2301A>G
n.3302A>G
n.2018A>G
c.1871A>G
c.2469A>G (p.Arg823=)
c.2631A>G (p.Arg877=)
c.2553A>G (p.Arg851=)
c.2550A>G (p.Arg850=)
c.2547A>G (p.Arg849=)
c.2511A>G (p.Arg837=)
c.2430A>G (p.Arg810=)
c.2349A>G (p.Arg783=)
c.2268A>G (p.Arg756=)
c.2265A>G (p.Arg755=)
c.2190A>G (p.Arg730=)
c.2187A>G (p.Arg729=)
17g.12992827T>GCA398222011ELAC2c.2472A>C (p.Arg824Ser)
c.2415A>C (p.Arg805Ser)
c.2352A>C (p.Arg784Ser)
n.2359A>C
n.2301A>C
n.3302A>C
n.2018A>C
c.1871A>C
c.2469A>C (p.Arg823Ser)
c.2631A>C (p.Arg877Ser)
c.2553A>C (p.Arg851Ser)
c.2550A>C (p.Arg850Ser)
c.2547A>C (p.Arg849Ser)
c.2511A>C (p.Arg837Ser)
c.2430A>C (p.Arg810Ser)
c.2349A>C (p.Arg783Ser)
c.2268A>C (p.Arg756Ser)
c.2265A>C (p.Arg755Ser)
c.2190A>C (p.Arg730Ser)
c.2187A>C (p.Arg729Ser)
 dbSNP
17g.12992827T=CA2248421293ELAC2c.2472A= (p.Arg824=)
c.2415A= (p.Arg805=)
c.2352A= (p.Arg784=)
n.2359A=
n.2301A=
n.3302A=
n.2018A=
c.1871A=
c.2469A= (p.Arg823=)
c.2631A= (p.Arg877=)
c.2553A= (p.Arg851=)
c.2550A= (p.Arg850=)
c.2547A= (p.Arg849=)
c.2511A= (p.Arg837=)
c.2430A= (p.Arg810=)
c.2349A= (p.Arg783=)
c.2268A= (p.Arg756=)
c.2265A= (p.Arg755=)
c.2190A= (p.Arg730=)
c.2187A= (p.Arg729=)
17g.12992828C>ACA398222012ELAC2c.2471G>T (p.Arg824Ile)
c.2414G>T (p.Arg805Ile)
c.2351G>T (p.Arg784Ile)
n.2358G>T
n.2300G>T
n.3301G>T
n.2017G>T
c.1870G>T
c.2468G>T (p.Arg823Ile)
c.2630G>T (p.Arg877Ile)
c.2552G>T (p.Arg851Ile)
c.2549G>T (p.Arg850Ile)
c.2546G>T (p.Arg849Ile)
c.2510G>T (p.Arg837Ile)
c.2429G>T (p.Arg810Ile)
c.2348G>T (p.Arg783Ile)
c.2267G>T (p.Arg756Ile)
c.2264G>T (p.Arg755Ile)
c.2189G>T (p.Arg730Ile)
c.2186G>T (p.Arg729Ile)
 dbSNP gnomAD v4
17g.12992828C=CA2248421295ELAC2c.2471G= (p.Arg824=)
c.2414G= (p.Arg805=)
c.2351G= (p.Arg784=)
n.2358G=
n.2300G=
n.3301G=
n.2017G=
c.1870G=
c.2468G= (p.Arg823=)
c.2630G= (p.Arg877=)
c.2552G= (p.Arg851=)
c.2549G= (p.Arg850=)
c.2546G= (p.Arg849=)
c.2510G= (p.Arg837=)
c.2429G= (p.Arg810=)
c.2348G= (p.Arg783=)
c.2267G= (p.Arg756=)
c.2264G= (p.Arg755=)
c.2189G= (p.Arg730=)
c.2186G= (p.Arg729=)
17g.12992828C>GCA398222013ELAC2c.2471G>C (p.Arg824Thr)
c.2414G>C (p.Arg805Thr)
c.2351G>C (p.Arg784Thr)
n.2358G>C
n.2300G>C
n.3301G>C
n.2017G>C
c.1870G>C
c.2468G>C (p.Arg823Thr)
c.2630G>C (p.Arg877Thr)
c.2552G>C (p.Arg851Thr)
c.2549G>C (p.Arg850Thr)
c.2546G>C (p.Arg849Thr)
c.2510G>C (p.Arg837Thr)
c.2429G>C (p.Arg810Thr)
c.2348G>C (p.Arg783Thr)
c.2267G>C (p.Arg756Thr)
c.2264G>C (p.Arg755Thr)
c.2189G>C (p.Arg730Thr)
c.2186G>C (p.Arg729Thr)
17g.12992828C>TCA398222014ELAC2c.2471G>A (p.Arg824Lys)
c.2414G>A (p.Arg805Lys)
c.2351G>A (p.Arg784Lys)
n.2358G>A
n.2300G>A
n.3301G>A
n.2017G>A
c.1870G>A
c.2468G>A (p.Arg823Lys)
c.2630G>A (p.Arg877Lys)
c.2552G>A (p.Arg851Lys)
c.2549G>A (p.Arg850Lys)
c.2546G>A (p.Arg849Lys)
c.2510G>A (p.Arg837Lys)
c.2429G>A (p.Arg810Lys)
c.2348G>A (p.Arg783Lys)
c.2267G>A (p.Arg756Lys)
c.2264G>A (p.Arg755Lys)
c.2189G>A (p.Arg730Lys)
c.2186G>A (p.Arg729Lys)
17g.12992829T>ACA398222015ELAC2c.2470A>T (p.Arg824Ter)
c.2413A>T (p.Arg805Ter)
c.2350A>T (p.Arg784Ter)
n.2357A>T
n.2299A>T
n.3300A>T
n.2016A>T
c.1869A>T
c.2467A>T (p.Arg823Ter)
c.2629A>T (p.Arg877Ter)
c.2551A>T (p.Arg851Ter)
c.2548A>T (p.Arg850Ter)
c.2545A>T (p.Arg849Ter)
c.2509A>T (p.Arg837Ter)
c.2428A>T (p.Arg810Ter)
c.2347A>T (p.Arg783Ter)
c.2266A>T (p.Arg756Ter)
c.2263A>T (p.Arg755Ter)
c.2188A>T (p.Arg730Ter)
c.2185A>T (p.Arg729Ter)
17g.12992829T>CCA398222016ELAC2c.2470A>G (p.Arg824Gly)
c.2413A>G (p.Arg805Gly)
c.2350A>G (p.Arg784Gly)
n.2357A>G
n.2299A>G
n.3300A>G
n.2016A>G
c.1869A>G
c.2467A>G (p.Arg823Gly)
c.2629A>G (p.Arg877Gly)
c.2551A>G (p.Arg851Gly)
c.2548A>G (p.Arg850Gly)
c.2545A>G (p.Arg849Gly)
c.2509A>G (p.Arg837Gly)
c.2428A>G (p.Arg810Gly)
c.2347A>G (p.Arg783Gly)
c.2266A>G (p.Arg756Gly)
c.2263A>G (p.Arg755Gly)
c.2188A>G (p.Arg730Gly)
c.2185A>G (p.Arg729Gly)
 dbSNP
17g.12992829T>GCA498009555ELAC2c.2470A>C (p.Arg824=)
c.2413A>C (p.Arg805=)
c.2350A>C (p.Arg784=)
n.2357A>C
n.2299A>C
n.3300A>C
n.2016A>C
c.1869A>C
c.2467A>C (p.Arg823=)
c.2629A>C (p.Arg877=)
c.2551A>C (p.Arg851=)
c.2548A>C (p.Arg850=)
c.2545A>C (p.Arg849=)
c.2509A>C (p.Arg837=)
c.2428A>C (p.Arg810=)
c.2347A>C (p.Arg783=)
c.2266A>C (p.Arg756=)
c.2263A>C (p.Arg755=)
c.2188A>C (p.Arg730=)
c.2185A>C (p.Arg729=)
17g.12992830G>ACA498009556ELAC2c.2469C>T (p.Val823=)
c.2412C>T (p.Val804=)
c.2349C>T (p.Val783=)
n.2356C>T
n.2298C>T
n.3299C>T
n.2015C>T
c.1868C>T
c.2466C>T (p.Val822=)
c.2628C>T (p.Val876=)
c.2550C>T (p.Val850=)
c.2547C>T (p.Val849=)
c.2544C>T (p.Val848=)
c.2508C>T (p.Val836=)
c.2427C>T (p.Val809=)
c.2346C>T (p.Val782=)
c.2265C>T (p.Val755=)
c.2262C>T (p.Val754=)
c.2187C>T (p.Val729=)
c.2184C>T (p.Val728=)
17g.12992830G>CCA498009557ELAC2c.2469C>G (p.Val823=)
c.2412C>G (p.Val804=)
c.2349C>G (p.Val783=)
n.2356C>G
n.2298C>G
n.3299C>G
n.2015C>G
c.1868C>G
c.2466C>G (p.Val822=)
c.2628C>G (p.Val876=)
c.2550C>G (p.Val850=)
c.2547C>G (p.Val849=)
c.2544C>G (p.Val848=)
c.2508C>G (p.Val836=)
c.2427C>G (p.Val809=)
c.2346C>G (p.Val782=)
c.2265C>G (p.Val755=)
c.2262C>G (p.Val754=)
c.2187C>G (p.Val729=)
c.2184C>G (p.Val728=)
17g.12992830G>TCA498009558ELAC2c.2469C>A (p.Val823=)
c.2412C>A (p.Val804=)
c.2349C>A (p.Val783=)
n.2356C>A
n.2298C>A
n.3299C>A
n.2015C>A
c.1868C>A
c.2466C>A (p.Val822=)
c.2628C>A (p.Val876=)
c.2550C>A (p.Val850=)
c.2547C>A (p.Val849=)
c.2544C>A (p.Val848=)
c.2508C>A (p.Val836=)
c.2427C>A (p.Val809=)
c.2346C>A (p.Val782=)
c.2265C>A (p.Val755=)
c.2262C>A (p.Val754=)
c.2187C>A (p.Val729=)
c.2184C>A (p.Val728=)
17g.12992831A>CCA398222017ELAC2c.2468T>G (p.Val823Gly)
c.2411T>G (p.Val804Gly)
c.2348T>G (p.Val783Gly)
n.2355T>G
n.2297T>G
n.3298T>G
n.2014T>G
c.1867T>G
c.2465T>G (p.Val822Gly)
c.2627T>G (p.Val876Gly)
c.2549T>G (p.Val850Gly)
c.2546T>G (p.Val849Gly)
c.2543T>G (p.Val848Gly)
c.2507T>G (p.Val836Gly)
c.2426T>G (p.Val809Gly)
c.2345T>G (p.Val782Gly)
c.2264T>G (p.Val755Gly)
c.2261T>G (p.Val754Gly)
c.2186T>G (p.Val729Gly)
c.2183T>G (p.Val728Gly)
17g.12992831A>GCA398222018ELAC2c.2468T>C (p.Val823Ala)
c.2411T>C (p.Val804Ala)
c.2348T>C (p.Val783Ala)
n.2355T>C
n.2297T>C
n.3298T>C
n.2014T>C
c.1867T>C
c.2465T>C (p.Val822Ala)
c.2627T>C (p.Val876Ala)
c.2549T>C (p.Val850Ala)
c.2546T>C (p.Val849Ala)
c.2543T>C (p.Val848Ala)
c.2507T>C (p.Val836Ala)
c.2426T>C (p.Val809Ala)
c.2345T>C (p.Val782Ala)
c.2264T>C (p.Val755Ala)
c.2261T>C (p.Val754Ala)
c.2186T>C (p.Val729Ala)
c.2183T>C (p.Val728Ala)
17g.12992831A>TCA398222019ELAC2c.2468T>A (p.Val823Asp)
c.2411T>A (p.Val804Asp)
c.2348T>A (p.Val783Asp)
n.2355T>A
n.2297T>A
n.3298T>A
n.2014T>A
c.1867T>A
c.2465T>A (p.Val822Asp)
c.2627T>A (p.Val876Asp)
c.2549T>A (p.Val850Asp)
c.2546T>A (p.Val849Asp)
c.2543T>A (p.Val848Asp)
c.2507T>A (p.Val836Asp)
c.2426T>A (p.Val809Asp)
c.2345T>A (p.Val782Asp)
c.2264T>A (p.Val755Asp)
c.2261T>A (p.Val754Asp)
c.2186T>A (p.Val729Asp)
c.2183T>A (p.Val728Asp)
17g.12992832C>ACA8400787ELAC2c.2467G>T (p.Val823Phe)
c.2410G>T (p.Val804Phe)
c.2347G>T (p.Val783Phe)
n.2354G>T
n.2296G>T
n.3297G>T
n.2013G>T
c.1866G>T
c.2464G>T (p.Val822Phe)
c.2626G>T (p.Val876Phe)
c.2548G>T (p.Val850Phe)
c.2545G>T (p.Val849Phe)
c.2542G>T (p.Val848Phe)
c.2506G>T (p.Val836Phe)
c.2425G>T (p.Val809Phe)
c.2344G>T (p.Val782Phe)
c.2263G>T (p.Val755Phe)
c.2260G>T (p.Val754Phe)
c.2185G>T (p.Val729Phe)
c.2182G>T (p.Val728Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.12992832C=CA2248421301ELAC2c.2467G= (p.Val823=)
c.2410G= (p.Val804=)
c.2347G= (p.Val783=)
n.2354G=
n.2296G=
n.3297G=
n.2013G=
c.1866G=
c.2464G= (p.Val822=)
c.2626G= (p.Val876=)
c.2548G= (p.Val850=)
c.2545G= (p.Val849=)
c.2542G= (p.Val848=)
c.2506G= (p.Val836=)
c.2425G= (p.Val809=)
c.2344G= (p.Val782=)
c.2263G= (p.Val755=)
c.2260G= (p.Val754=)
c.2185G= (p.Val729=)
c.2182G= (p.Val728=)
17g.12992832C>GCA398222020ELAC2c.2467G>C (p.Val823Leu)
c.2410G>C (p.Val804Leu)
c.2347G>C (p.Val783Leu)
n.2354G>C
n.2296G>C
n.3297G>C
n.2013G>C
c.1866G>C
c.2464G>C (p.Val822Leu)
c.2626G>C (p.Val876Leu)
c.2548G>C (p.Val850Leu)
c.2545G>C (p.Val849Leu)
c.2542G>C (p.Val848Leu)
c.2506G>C (p.Val836Leu)
c.2425G>C (p.Val809Leu)
c.2344G>C (p.Val782Leu)
c.2263G>C (p.Val755Leu)
c.2260G>C (p.Val754Leu)
c.2185G>C (p.Val729Leu)
c.2182G>C (p.Val728Leu)
 gnomAD v4
17g.12992832C>TCA288074910ELAC2c.2467G>A (p.Val823Ile)
c.2410G>A (p.Val804Ile)
c.2347G>A (p.Val783Ile)
n.2354G>A
n.2296G>A
n.3297G>A
n.2013G>A
c.1866G>A
c.2464G>A (p.Val822Ile)
c.2626G>A (p.Val876Ile)
c.2548G>A (p.Val850Ile)
c.2545G>A (p.Val849Ile)
c.2542G>A (p.Val848Ile)
c.2506G>A (p.Val836Ile)
c.2425G>A (p.Val809Ile)
c.2344G>A (p.Val782Ile)
c.2263G>A (p.Val755Ile)
c.2260G>A (p.Val754Ile)
c.2185G>A (p.Val729Ile)
c.2182G>A (p.Val728Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.12992832_12992835delinsCCTTCA2248421300ELAC2c.2464_2467delinsAAGG (p.Lys822=)
c.2407_2410delinsAAGG (p.Lys803=)
c.2344_2347delinsAAGG (p.Lys782=)
n.2351_2354delinsAAGG
n.2293_2296delinsAAGG
n.3294_3297delinsAAGG
n.2010_2013delinsAAGG
c.1863_1866delinsAAGG
c.2461_2464delinsAAGG (p.Lys821=)
c.2623_2626delinsAAGG (p.Lys875=)
c.2545_2548delinsAAGG (p.Lys849=)
c.2542_2545delinsAAGG (p.Lys848=)
c.2539_2542delinsAAGG (p.Lys847=)
c.2503_2506delinsAAGG (p.Lys835=)
c.2422_2425delinsAAGG (p.Lys808=)
c.2341_2344delinsAAGG (p.Lys781=)
c.2260_2263delinsAAGG (p.Lys754=)
c.2257_2260delinsAAGG (p.Lys753=)
c.2182_2185delinsAAGG (p.Lys728=)
c.2179_2182delinsAAGG (p.Lys727=)
17g.12992833C>ACA398222021ELAC2c.2466G>T (p.Lys822Asn)
c.2409G>T (p.Lys803Asn)
c.2346G>T (p.Lys782Asn)
n.2353G>T
n.2295G>T
n.3296G>T
n.2012G>T
c.1865G>T
c.2463G>T (p.Lys821Asn)
c.2625G>T (p.Lys875Asn)
c.2547G>T (p.Lys849Asn)
c.2544G>T (p.Lys848Asn)
c.2541G>T (p.Lys847Asn)
c.2505G>T (p.Lys835Asn)
c.2424G>T (p.Lys808Asn)
c.2343G>T (p.Lys781Asn)
c.2262G>T (p.Lys754Asn)
c.2259G>T (p.Lys753Asn)
c.2184G>T (p.Lys728Asn)
c.2181G>T (p.Lys727Asn)
17g.12992833C=CA2248421306ELAC2c.2466G= (p.Lys822=)
c.2409G= (p.Lys803=)
c.2346G= (p.Lys782=)
n.2353G=
n.2295G=
n.3296G=
n.2012G=
c.1865G=
c.2463G= (p.Lys821=)
c.2625G= (p.Lys875=)
c.2547G= (p.Lys849=)
c.2544G= (p.Lys848=)
c.2541G= (p.Lys847=)
c.2505G= (p.Lys835=)
c.2424G= (p.Lys808=)
c.2343G= (p.Lys781=)
c.2262G= (p.Lys754=)
c.2259G= (p.Lys753=)
c.2184G= (p.Lys728=)
c.2181G= (p.Lys727=)
17g.12992833C>GCA398222022ELAC2c.2466G>C (p.Lys822Asn)
c.2409G>C (p.Lys803Asn)
c.2346G>C (p.Lys782Asn)
n.2353G>C
n.2295G>C
n.3296G>C
n.2012G>C
c.1865G>C
c.2463G>C (p.Lys821Asn)
c.2625G>C (p.Lys875Asn)
c.2547G>C (p.Lys849Asn)
c.2544G>C (p.Lys848Asn)
c.2541G>C (p.Lys847Asn)
c.2505G>C (p.Lys835Asn)
c.2424G>C (p.Lys808Asn)
c.2343G>C (p.Lys781Asn)
c.2262G>C (p.Lys754Asn)
c.2259G>C (p.Lys753Asn)
c.2184G>C (p.Lys728Asn)
c.2181G>C (p.Lys727Asn)
 dbSNP
17g.12992833C>TCA288074916ELAC2c.2466G>A (p.Lys822=)
c.2409G>A (p.Lys803=)
c.2346G>A (p.Lys782=)
n.2353G>A
n.2295G>A
n.3296G>A
n.2012G>A
c.1865G>A
c.2463G>A (p.Lys821=)
c.2625G>A (p.Lys875=)
c.2547G>A (p.Lys849=)
c.2544G>A (p.Lys848=)
c.2541G>A (p.Lys847=)
c.2505G>A (p.Lys835=)
c.2424G>A (p.Lys808=)
c.2343G>A (p.Lys781=)
c.2262G>A (p.Lys754=)
c.2259G>A (p.Lys753=)
c.2184G>A (p.Lys728=)
c.2181G>A (p.Lys727=)
 dbSNP
17g.12992836_12992838delCA8400788ELAC2c.2464_2466del (p.Lys822del)
c.2407_2409del (p.Lys803del)
c.2344_2346del (p.Lys782del)
n.2351_2353del
n.2293_2295del
n.3294_3296del
n.2010_2012del
c.1863_1865del
c.2461_2463del (p.Lys821del)
c.2623_2625del (p.Lys875del)
c.2545_2547del (p.Lys849del)
c.2542_2544del (p.Lys848del)
c.2539_2541del (p.Lys847del)
c.2503_2505del (p.Lys835del)
c.2422_2424del (p.Lys808del)
c.2341_2343del (p.Lys781del)
c.2260_2262del (p.Lys754del)
c.2257_2259del (p.Lys753del)
c.2182_2184del (p.Lys728del)
c.2179_2181del (p.Lys727del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.12992834T>ACA398222023ELAC2c.2465A>T (p.Lys822Met)
c.2408A>T (p.Lys803Met)
c.2345A>T (p.Lys782Met)
n.2352A>T
n.2294A>T
n.3295A>T
n.2011A>T
c.1864A>T
c.2462A>T (p.Lys821Met)
c.2624A>T (p.Lys875Met)
c.2546A>T (p.Lys849Met)
c.2543A>T (p.Lys848Met)
c.2540A>T (p.Lys847Met)
c.2504A>T (p.Lys835Met)
c.2423A>T (p.Lys808Met)
c.2342A>T (p.Lys781Met)
c.2261A>T (p.Lys754Met)
c.2258A>T (p.Lys753Met)
c.2183A>T (p.Lys728Met)
c.2180A>T (p.Lys727Met)
 gnomAD v4
17g.12992834T>CCA398222024ELAC2c.2465A>G (p.Lys822Arg)
c.2408A>G (p.Lys803Arg)
c.2345A>G (p.Lys782Arg)
n.2352A>G
n.2294A>G
n.3295A>G
n.2011A>G
c.1864A>G
c.2462A>G (p.Lys821Arg)
c.2624A>G (p.Lys875Arg)
c.2546A>G (p.Lys849Arg)
c.2543A>G (p.Lys848Arg)
c.2540A>G (p.Lys847Arg)
c.2504A>G (p.Lys835Arg)
c.2423A>G (p.Lys808Arg)
c.2342A>G (p.Lys781Arg)
c.2261A>G (p.Lys754Arg)
c.2258A>G (p.Lys753Arg)
c.2183A>G (p.Lys728Arg)
c.2180A>G (p.Lys727Arg)
17g.12992834T>GCA398222025ELAC2c.2465A>C (p.Lys822Thr)
c.2408A>C (p.Lys803Thr)
c.2345A>C (p.Lys782Thr)
n.2352A>C
n.2294A>C
n.3295A>C
n.2011A>C
c.1864A>C
c.2462A>C (p.Lys821Thr)
c.2624A>C (p.Lys875Thr)
c.2546A>C (p.Lys849Thr)
c.2543A>C (p.Lys848Thr)
c.2540A>C (p.Lys847Thr)
c.2504A>C (p.Lys835Thr)
c.2423A>C (p.Lys808Thr)
c.2342A>C (p.Lys781Thr)
c.2261A>C (p.Lys754Thr)
c.2258A>C (p.Lys753Thr)
c.2183A>C (p.Lys728Thr)
c.2180A>C (p.Lys727Thr)
 ClinVar
17g.12992835T>ACA398222026ELAC2c.2464A>T (p.Lys822Ter)
c.2407A>T (p.Lys803Ter)
c.2344A>T (p.Lys782Ter)
n.2351A>T
n.2293A>T
n.3294A>T
n.2010A>T
c.1863A>T
c.2461A>T (p.Lys821Ter)
c.2623A>T (p.Lys875Ter)
c.2545A>T (p.Lys849Ter)
c.2542A>T (p.Lys848Ter)
c.2539A>T (p.Lys847Ter)
c.2503A>T (p.Lys835Ter)
c.2422A>T (p.Lys808Ter)
c.2341A>T (p.Lys781Ter)
c.2260A>T (p.Lys754Ter)
c.2257A>T (p.Lys753Ter)
c.2182A>T (p.Lys728Ter)
c.2179A>T (p.Lys727Ter)
17g.12992835T>CCA398222027ELAC2c.2464A>G (p.Lys822Glu)
c.2407A>G (p.Lys803Glu)
c.2344A>G (p.Lys782Glu)
n.2351A>G
n.2293A>G
n.3294A>G
n.2010A>G
c.1863A>G
c.2461A>G (p.Lys821Glu)
c.2623A>G (p.Lys875Glu)
c.2545A>G (p.Lys849Glu)
c.2542A>G (p.Lys848Glu)
c.2539A>G (p.Lys847Glu)
c.2503A>G (p.Lys835Glu)
c.2422A>G (p.Lys808Glu)
c.2341A>G (p.Lys781Glu)
c.2260A>G (p.Lys754Glu)
c.2257A>G (p.Lys753Glu)
c.2182A>G (p.Lys728Glu)
c.2179A>G (p.Lys727Glu)
 gnomAD v4
17g.12992835T>GCA398222028ELAC2c.2464A>C (p.Lys822Gln)
c.2407A>C (p.Lys803Gln)
c.2344A>C (p.Lys782Gln)
n.2351A>C
n.2293A>C
n.3294A>C
n.2010A>C
c.1863A>C
c.2461A>C (p.Lys821Gln)
c.2623A>C (p.Lys875Gln)
c.2545A>C (p.Lys849Gln)
c.2542A>C (p.Lys848Gln)
c.2539A>C (p.Lys847Gln)
c.2503A>C (p.Lys835Gln)
c.2422A>C (p.Lys808Gln)
c.2341A>C (p.Lys781Gln)
c.2260A>C (p.Lys754Gln)
c.2257A>C (p.Lys753Gln)
c.2182A>C (p.Lys728Gln)
c.2179A>C (p.Lys727Gln)
17g.12992836C>ACA398222029ELAC2c.2463G>T (p.Lys821Asn)
c.2406G>T (p.Lys802Asn)
c.2343G>T (p.Lys781Asn)
n.2350G>T
n.2292G>T
n.3293G>T
n.2009G>T
c.1862G>T
c.2460G>T (p.Lys820Asn)
c.2622G>T (p.Lys874Asn)
c.2544G>T (p.Lys848Asn)
c.2541G>T (p.Lys847Asn)
c.2538G>T (p.Lys846Asn)
c.2502G>T (p.Lys834Asn)
c.2421G>T (p.Lys807Asn)
c.2340G>T (p.Lys780Asn)
c.2259G>T (p.Lys753Asn)
c.2256G>T (p.Lys752Asn)
c.2181G>T (p.Lys727Asn)
c.2178G>T (p.Lys726Asn)
17g.12992836C>GCA398222030ELAC2c.2463G>C (p.Lys821Asn)
c.2406G>C (p.Lys802Asn)
c.2343G>C (p.Lys781Asn)
n.2350G>C
n.2292G>C
n.3293G>C
n.2009G>C
c.1862G>C
c.2460G>C (p.Lys820Asn)
c.2622G>C (p.Lys874Asn)
c.2544G>C (p.Lys848Asn)
c.2541G>C (p.Lys847Asn)
c.2538G>C (p.Lys846Asn)
c.2502G>C (p.Lys834Asn)
c.2421G>C (p.Lys807Asn)
c.2340G>C (p.Lys780Asn)
c.2259G>C (p.Lys753Asn)
c.2256G>C (p.Lys752Asn)
c.2181G>C (p.Lys727Asn)
c.2178G>C (p.Lys726Asn)
17g.12992836C>TCA498009559ELAC2c.2463G>A (p.Lys821=)
c.2406G>A (p.Lys802=)
c.2343G>A (p.Lys781=)
n.2350G>A
n.2292G>A
n.3293G>A
n.2009G>A
c.1862G>A
c.2460G>A (p.Lys820=)
c.2622G>A (p.Lys874=)
c.2544G>A (p.Lys848=)
c.2541G>A (p.Lys847=)
c.2538G>A (p.Lys846=)
c.2502G>A (p.Lys834=)
c.2421G>A (p.Lys807=)
c.2340G>A (p.Lys780=)
c.2259G>A (p.Lys753=)
c.2256G>A (p.Lys752=)
c.2181G>A (p.Lys727=)
c.2178G>A (p.Lys726=)
17g.12992837T>ACA398222033ELAC2c.2462A>T (p.Lys821Met)
c.2405A>T (p.Lys802Met)
c.2342A>T (p.Lys781Met)
n.2349A>T
n.2291A>T
n.3292A>T
n.2008A>T
c.1861A>T
c.2459A>T (p.Lys820Met)
c.2621A>T (p.Lys874Met)
c.2543A>T (p.Lys848Met)
c.2540A>T (p.Lys847Met)
c.2537A>T (p.Lys846Met)
c.2501A>T (p.Lys834Met)
c.2420A>T (p.Lys807Met)
c.2339A>T (p.Lys780Met)
c.2258A>T (p.Lys753Met)
c.2255A>T (p.Lys752Met)
c.2180A>T (p.Lys727Met)
c.2177A>T (p.Lys726Met)
17g.12992837T>CCA398222031ELAC2c.2462A>G (p.Lys821Arg)
c.2405A>G (p.Lys802Arg)
c.2342A>G (p.Lys781Arg)
n.2349A>G
n.2291A>G
n.3292A>G
n.2008A>G
c.1861A>G
c.2459A>G (p.Lys820Arg)
c.2621A>G (p.Lys874Arg)
c.2543A>G (p.Lys848Arg)
c.2540A>G (p.Lys847Arg)
c.2537A>G (p.Lys846Arg)
c.2501A>G (p.Lys834Arg)
c.2420A>G (p.Lys807Arg)
c.2339A>G (p.Lys780Arg)
c.2258A>G (p.Lys753Arg)
c.2255A>G (p.Lys752Arg)
c.2180A>G (p.Lys727Arg)
c.2177A>G (p.Lys726Arg)
17g.12992837T>GCA398222032ELAC2c.2462A>C (p.Lys821Thr)
c.2405A>C (p.Lys802Thr)
c.2342A>C (p.Lys781Thr)
n.2349A>C
n.2291A>C
n.3292A>C
n.2008A>C
c.1861A>C
c.2459A>C (p.Lys820Thr)
c.2621A>C (p.Lys874Thr)
c.2543A>C (p.Lys848Thr)
c.2540A>C (p.Lys847Thr)
c.2537A>C (p.Lys846Thr)
c.2501A>C (p.Lys834Thr)
c.2420A>C (p.Lys807Thr)
c.2339A>C (p.Lys780Thr)
c.2258A>C (p.Lys753Thr)
c.2255A>C (p.Lys752Thr)
c.2180A>C (p.Lys727Thr)
c.2177A>C (p.Lys726Thr)
17g.12992838T>ACA398222034ELAC2c.2461A>T (p.Lys821Ter)
c.2404A>T (p.Lys802Ter)
c.2341A>T (p.Lys781Ter)
n.2348A>T
n.2290A>T
n.3291A>T
n.2007A>T
c.1860A>T
c.2458A>T (p.Lys820Ter)
c.2620A>T (p.Lys874Ter)
c.2542A>T (p.Lys848Ter)
c.2539A>T (p.Lys847Ter)
c.2536A>T (p.Lys846Ter)
c.2500A>T (p.Lys834Ter)
c.2419A>T (p.Lys807Ter)
c.2338A>T (p.Lys780Ter)
c.2257A>T (p.Lys753Ter)
c.2254A>T (p.Lys752Ter)
c.2179A>T (p.Lys727Ter)
c.2176A>T (p.Lys726Ter)
17g.12992838T>CCA398222035ELAC2c.2461A>G (p.Lys821Glu)
c.2404A>G (p.Lys802Glu)
c.2341A>G (p.Lys781Glu)
n.2348A>G
n.2290A>G
n.3291A>G
n.2007A>G
c.1860A>G
c.2458A>G (p.Lys820Glu)
c.2620A>G (p.Lys874Glu)
c.2542A>G (p.Lys848Glu)
c.2539A>G (p.Lys847Glu)
c.2536A>G (p.Lys846Glu)
c.2500A>G (p.Lys834Glu)
c.2419A>G (p.Lys807Glu)
c.2338A>G (p.Lys780Glu)
c.2257A>G (p.Lys753Glu)
c.2254A>G (p.Lys752Glu)
c.2179A>G (p.Lys727Glu)
c.2176A>G (p.Lys726Glu)
17g.12992838T>GCA398222036ELAC2c.2461A>C (p.Lys821Gln)
c.2404A>C (p.Lys802Gln)
c.2341A>C (p.Lys781Gln)
n.2348A>C
n.2290A>C
n.3291A>C
n.2007A>C
c.1860A>C
c.2458A>C (p.Lys820Gln)
c.2620A>C (p.Lys874Gln)
c.2542A>C (p.Lys848Gln)
c.2539A>C (p.Lys847Gln)
c.2536A>C (p.Lys846Gln)
c.2500A>C (p.Lys834Gln)
c.2419A>C (p.Lys807Gln)
c.2338A>C (p.Lys780Gln)
c.2257A>C (p.Lys753Gln)
c.2254A>C (p.Lys752Gln)
c.2179A>C (p.Lys727Gln)
c.2176A>C (p.Lys726Gln)
 dbSNP gnomAD v2 gnomAD v4
17g.12992838T=CA2248421309ELAC2c.2461A= (p.Lys821=)
c.2404A= (p.Lys802=)
c.2341A= (p.Lys781=)
n.2348A=
n.2290A=
n.3291A=
n.2007A=
c.1860A=
c.2458A= (p.Lys820=)
c.2620A= (p.Lys874=)
c.2542A= (p.Lys848=)
c.2539A= (p.Lys847=)
c.2536A= (p.Lys846=)
c.2500A= (p.Lys834=)
c.2419A= (p.Lys807=)
c.2338A= (p.Lys780=)
c.2257A= (p.Lys753=)
c.2254A= (p.Lys752=)
c.2179A= (p.Lys727=)
c.2176A= (p.Lys726=)
17g.12992839G>ACA498009560ELAC2c.2460C>T (p.Ala820=)
c.2403C>T (p.Ala801=)
c.2340C>T (p.Ala780=)
n.2347C>T
n.2289C>T
n.3290C>T
n.2006C>T
c.1859C>T
c.2457C>T (p.Ala819=)
c.2619C>T (p.Ala873=)
c.2541C>T (p.Ala847=)
c.2538C>T (p.Ala846=)
c.2535C>T (p.Ala845=)
c.2499C>T (p.Ala833=)
c.2418C>T (p.Ala806=)
c.2337C>T (p.Ala779=)
c.2256C>T (p.Ala752=)
c.2253C>T (p.Ala751=)
c.2178C>T (p.Ala726=)
c.2175C>T (p.Ala725=)
17g.12992839G>CCA498009561ELAC2c.2460C>G (p.Ala820=)
c.2403C>G (p.Ala801=)
c.2340C>G (p.Ala780=)
n.2347C>G
n.2289C>G
n.3290C>G
n.2006C>G
c.1859C>G
c.2457C>G (p.Ala819=)
c.2619C>G (p.Ala873=)
c.2541C>G (p.Ala847=)
c.2538C>G (p.Ala846=)
c.2535C>G (p.Ala845=)
c.2499C>G (p.Ala833=)
c.2418C>G (p.Ala806=)
c.2337C>G (p.Ala779=)
c.2256C>G (p.Ala752=)
c.2253C>G (p.Ala751=)
c.2178C>G (p.Ala726=)
c.2175C>G (p.Ala725=)
17g.12992839G>TCA498009562ELAC2c.2460C>A (p.Ala820=)
c.2403C>A (p.Ala801=)
c.2340C>A (p.Ala780=)
n.2347C>A
n.2289C>A
n.3290C>A
n.2006C>A
c.1859C>A
c.2457C>A (p.Ala819=)
c.2619C>A (p.Ala873=)
c.2541C>A (p.Ala847=)
c.2538C>A (p.Ala846=)
c.2535C>A (p.Ala845=)
c.2499C>A (p.Ala833=)
c.2418C>A (p.Ala806=)
c.2337C>A (p.Ala779=)
c.2256C>A (p.Ala752=)
c.2253C>A (p.Ala751=)
c.2178C>A (p.Ala726=)
c.2175C>A (p.Ala725=)
17g.12992840G>ACA398222037ELAC2c.2459C>T (p.Ala820Val)
c.2402C>T (p.Ala801Val)
c.2339C>T (p.Ala780Val)
n.2346C>T
n.2288C>T
n.3289C>T
n.2005C>T
c.1858C>T
c.2456C>T (p.Ala819Val)
c.2618C>T (p.Ala873Val)
c.2540C>T (p.Ala847Val)
c.2537C>T (p.Ala846Val)
c.2534C>T (p.Ala845Val)
c.2498C>T (p.Ala833Val)
c.2417C>T (p.Ala806Val)
c.2336C>T (p.Ala779Val)
c.2255C>T (p.Ala752Val)
c.2252C>T (p.Ala751Val)
c.2177C>T (p.Ala726Val)
c.2174C>T (p.Ala725Val)
 dbSNP gnomAD v4
17g.12992840G>CCA398222038ELAC2c.2459C>G (p.Ala820Gly)
c.2402C>G (p.Ala801Gly)
c.2339C>G (p.Ala780Gly)
n.2346C>G
n.2288C>G
n.3289C>G
n.2005C>G
c.1858C>G
c.2456C>G (p.Ala819Gly)
c.2618C>G (p.Ala873Gly)
c.2540C>G (p.Ala847Gly)
c.2537C>G (p.Ala846Gly)
c.2534C>G (p.Ala845Gly)
c.2498C>G (p.Ala833Gly)
c.2417C>G (p.Ala806Gly)
c.2336C>G (p.Ala779Gly)
c.2255C>G (p.Ala752Gly)
c.2252C>G (p.Ala751Gly)
c.2177C>G (p.Ala726Gly)
c.2174C>G (p.Ala725Gly)
 ClinVar dbSNP gnomAD v4
17g.12992840G=CA2248421315ELAC2c.2459C= (p.Ala820=)
c.2402C= (p.Ala801=)
c.2339C= (p.Ala780=)
n.2346C=
n.2288C=
n.3289C=
n.2005C=
c.1858C=
c.2456C= (p.Ala819=)
c.2618C= (p.Ala873=)
c.2540C= (p.Ala847=)
c.2537C= (p.Ala846=)
c.2534C= (p.Ala845=)
c.2498C= (p.Ala833=)
c.2417C= (p.Ala806=)
c.2336C= (p.Ala779=)
c.2255C= (p.Ala752=)
c.2252C= (p.Ala751=)
c.2177C= (p.Ala726=)
c.2174C= (p.Ala725=)
17g.12992840G>TCA398222039ELAC2c.2459C>A (p.Ala820Asp)
c.2402C>A (p.Ala801Asp)
c.2339C>A (p.Ala780Asp)
n.2346C>A
n.2288C>A
n.3289C>A
n.2005C>A
c.1858C>A
c.2456C>A (p.Ala819Asp)
c.2618C>A (p.Ala873Asp)
c.2540C>A (p.Ala847Asp)
c.2537C>A (p.Ala846Asp)
c.2534C>A (p.Ala845Asp)
c.2498C>A (p.Ala833Asp)
c.2417C>A (p.Ala806Asp)
c.2336C>A (p.Ala779Asp)
c.2255C>A (p.Ala752Asp)
c.2252C>A (p.Ala751Asp)
c.2177C>A (p.Ala726Asp)
c.2174C>A (p.Ala725Asp)
 dbSNP gnomAD v2 gnomAD v4
17g.12992841C>ACA398222040ELAC2c.2458G>T (p.Ala820Ser)
c.2401G>T (p.Ala801Ser)
c.2338G>T (p.Ala780Ser)
n.2345G>T
n.2287G>T
n.3288G>T
n.2004G>T
c.1857G>T
c.2455G>T (p.Ala819Ser)
c.2617G>T (p.Ala873Ser)
c.2539G>T (p.Ala847Ser)
c.2536G>T (p.Ala846Ser)
c.2533G>T (p.Ala845Ser)
c.2497G>T (p.Ala833Ser)
c.2416G>T (p.Ala806Ser)
c.2335G>T (p.Ala779Ser)
c.2254G>T (p.Ala752Ser)
c.2251G>T (p.Ala751Ser)
c.2176G>T (p.Ala726Ser)
c.2173G>T (p.Ala725Ser)
 gnomAD v4
17g.12992841C=CA2248421319ELAC2c.2458G= (p.Ala820=)
c.2401G= (p.Ala801=)
c.2338G= (p.Ala780=)
n.2345G=
n.2287G=
n.3288G=
n.2004G=
c.1857G=
c.2455G= (p.Ala819=)
c.2617G= (p.Ala873=)
c.2539G= (p.Ala847=)
c.2536G= (p.Ala846=)
c.2533G= (p.Ala845=)
c.2497G= (p.Ala833=)
c.2416G= (p.Ala806=)
c.2335G= (p.Ala779=)
c.2254G= (p.Ala752=)
c.2251G= (p.Ala751=)
c.2176G= (p.Ala726=)
c.2173G= (p.Ala725=)
17g.12992841C>GCA398222041ELAC2c.2458G>C (p.Ala820Pro)
c.2401G>C (p.Ala801Pro)
c.2338G>C (p.Ala780Pro)
n.2345G>C
n.2287G>C
n.3288G>C
n.2004G>C
c.1857G>C
c.2455G>C (p.Ala819Pro)
c.2617G>C (p.Ala873Pro)
c.2539G>C (p.Ala847Pro)
c.2536G>C (p.Ala846Pro)
c.2533G>C (p.Ala845Pro)
c.2497G>C (p.Ala833Pro)
c.2416G>C (p.Ala806Pro)
c.2335G>C (p.Ala779Pro)
c.2254G>C (p.Ala752Pro)
c.2251G>C (p.Ala751Pro)
c.2176G>C (p.Ala726Pro)
c.2173G>C (p.Ala725Pro)
 gnomAD v4
17g.12992841C>TCA398222042ELAC2c.2458G>A (p.Ala820Thr)
c.2401G>A (p.Ala801Thr)
c.2338G>A (p.Ala780Thr)
n.2345G>A
n.2287G>A
n.3288G>A
n.2004G>A
c.1857G>A
c.2455G>A (p.Ala819Thr)
c.2617G>A (p.Ala873Thr)
c.2539G>A (p.Ala847Thr)
c.2536G>A (p.Ala846Thr)
c.2533G>A (p.Ala845Thr)
c.2497G>A (p.Ala833Thr)
c.2416G>A (p.Ala806Thr)
c.2335G>A (p.Ala779Thr)
c.2254G>A (p.Ala752Thr)
c.2251G>A (p.Ala751Thr)
c.2176G>A (p.Ala726Thr)
c.2173G>A (p.Ala725Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.12992842C>ACA398222043ELAC2c.2457G>T (p.Gln819His)
c.2400G>T (p.Gln800His)
c.2337G>T (p.Gln779His)
n.2344G>T
n.2286G>T
n.3287G>T
n.2003G>T
c.1856G>T
c.2454G>T (p.Gln818His)
c.2616G>T (p.Gln872His)
c.2538G>T (p.Gln846His)
c.2535G>T (p.Gln845His)
c.2532G>T (p.Gln844His)
c.2496G>T (p.Gln832His)
c.2415G>T (p.Gln805His)
c.2334G>T (p.Gln778His)
c.2253G>T (p.Gln751His)
c.2250G>T (p.Gln750His)
c.2175G>T (p.Gln725His)
c.2172G>T (p.Gln724His)
17g.12992842C=CA2248421325ELAC2c.2457G= (p.Gln819=)
c.2400G= (p.Gln800=)
c.2337G= (p.Gln779=)
n.2344G=
n.2286G=
n.3287G=
n.2003G=
c.1856G=
c.2454G= (p.Gln818=)
c.2616G= (p.Gln872=)
c.2538G= (p.Gln846=)
c.2535G= (p.Gln845=)
c.2532G= (p.Gln844=)
c.2496G= (p.Gln832=)
c.2415G= (p.Gln805=)
c.2334G= (p.Gln778=)
c.2253G= (p.Gln751=)
c.2250G= (p.Gln750=)
c.2175G= (p.Gln725=)
c.2172G= (p.Gln724=)
17g.12992842C>GCA398222044ELAC2c.2457G>C (p.Gln819His)
c.2400G>C (p.Gln800His)
c.2337G>C (p.Gln779His)
n.2344G>C
n.2286G>C
n.3287G>C
n.2003G>C
c.1856G>C
c.2454G>C (p.Gln818His)
c.2616G>C (p.Gln872His)
c.2538G>C (p.Gln846His)
c.2535G>C (p.Gln845His)
c.2532G>C (p.Gln844His)
c.2496G>C (p.Gln832His)
c.2415G>C (p.Gln805His)
c.2334G>C (p.Gln778His)
c.2253G>C (p.Gln751His)
c.2250G>C (p.Gln750His)
c.2175G>C (p.Gln725His)
c.2172G>C (p.Gln724His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.12992842C>TCA8400789ELAC2c.2457G>A (p.Gln819=)
c.2400G>A (p.Gln800=)
c.2337G>A (p.Gln779=)
n.2344G>A
n.2286G>A
n.3287G>A
n.2003G>A
c.1856G>A
c.2454G>A (p.Gln818=)
c.2616G>A (p.Gln872=)
c.2538G>A (p.Gln846=)
c.2535G>A (p.Gln845=)
c.2532G>A (p.Gln844=)
c.2496G>A (p.Gln832=)
c.2415G>A (p.Gln805=)
c.2334G>A (p.Gln778=)
c.2253G>A (p.Gln751=)
c.2250G>A (p.Gln750=)
c.2175G>A (p.Gln725=)
c.2172G>A (p.Gln724=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.12992843T>ACA398222046ELAC2c.2456A>T (p.Gln819Leu)
c.2399A>T (p.Gln800Leu)
c.2336A>T (p.Gln779Leu)
n.2343A>T
n.2285A>T
n.3286A>T
n.2002A>T
c.1855A>T
c.2453A>T (p.Gln818Leu)
c.2615A>T (p.Gln872Leu)
c.2537A>T (p.Gln846Leu)
c.2534A>T (p.Gln845Leu)
c.2531A>T (p.Gln844Leu)
c.2495A>T (p.Gln832Leu)
c.2414A>T (p.Gln805Leu)
c.2333A>T (p.Gln778Leu)
c.2252A>T (p.Gln751Leu)
c.2249A>T (p.Gln750Leu)
c.2174A>T (p.Gln725Leu)
c.2171A>T (p.Gln724Leu)
 gnomAD v4
17g.12992843T>CCA398222047ELAC2c.2456A>G (p.Gln819Arg)
c.2399A>G (p.Gln800Arg)
c.2336A>G (p.Gln779Arg)
n.2343A>G
n.2285A>G
n.3286A>G
n.2002A>G
c.1855A>G
c.2453A>G (p.Gln818Arg)
c.2615A>G (p.Gln872Arg)
c.2537A>G (p.Gln846Arg)
c.2534A>G (p.Gln845Arg)
c.2531A>G (p.Gln844Arg)
c.2495A>G (p.Gln832Arg)
c.2414A>G (p.Gln805Arg)
c.2333A>G (p.Gln778Arg)
c.2252A>G (p.Gln751Arg)
c.2249A>G (p.Gln750Arg)
c.2174A>G (p.Gln725Arg)
c.2171A>G (p.Gln724Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.12992843T>GCA398222045ELAC2c.2456A>C (p.Gln819Pro)
c.2399A>C (p.Gln800Pro)
c.2336A>C (p.Gln779Pro)
n.2343A>C
n.2285A>C
n.3286A>C
n.2002A>C
c.1855A>C
c.2453A>C (p.Gln818Pro)
c.2615A>C (p.Gln872Pro)
c.2537A>C (p.Gln846Pro)
c.2534A>C (p.Gln845Pro)
c.2531A>C (p.Gln844Pro)
c.2495A>C (p.Gln832Pro)
c.2414A>C (p.Gln805Pro)
c.2333A>C (p.Gln778Pro)
c.2252A>C (p.Gln751Pro)
c.2249A>C (p.Gln750Pro)
c.2174A>C (p.Gln725Pro)
c.2171A>C (p.Gln724Pro)
17g.12992843T=CA2248421332ELAC2c.2456A= (p.Gln819=)
c.2399A= (p.Gln800=)
c.2336A= (p.Gln779=)
n.2343A=
n.2285A=
n.3286A=
n.2002A=
c.1855A=
c.2453A= (p.Gln818=)
c.2615A= (p.Gln872=)
c.2537A= (p.Gln846=)
c.2534A= (p.Gln845=)
c.2531A= (p.Gln844=)
c.2495A= (p.Gln832=)
c.2414A= (p.Gln805=)
c.2333A= (p.Gln778=)
c.2252A= (p.Gln751=)
c.2249A= (p.Gln750=)
c.2174A= (p.Gln725=)
c.2171A= (p.Gln724=)
17g.12992844G>ACA398222050ELAC2c.2455C>T (p.Gln819Ter)
c.2398C>T (p.Gln800Ter)
c.2335C>T (p.Gln779Ter)
n.2342C>T
n.2284C>T
n.3285C>T
n.2001C>T
c.1854C>T
c.2452C>T (p.Gln818Ter)
c.2614C>T (p.Gln872Ter)
c.2536C>T (p.Gln846Ter)
c.2533C>T (p.Gln845Ter)
c.2530C>T (p.Gln844Ter)
c.2494C>T (p.Gln832Ter)
c.2413C>T (p.Gln805Ter)
c.2332C>T (p.Gln778Ter)
c.2251C>T (p.Gln751Ter)
c.2248C>T (p.Gln750Ter)
c.2173C>T (p.Gln725Ter)
c.2170C>T (p.Gln724Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.12992844G>CCA398222048ELAC2c.2455C>G (p.Gln819Glu)
c.2398C>G (p.Gln800Glu)
c.2335C>G (p.Gln779Glu)
n.2342C>G
n.2284C>G
n.3285C>G
n.2001C>G
c.1854C>G
c.2452C>G (p.Gln818Glu)
c.2614C>G (p.Gln872Glu)
c.2536C>G (p.Gln846Glu)
c.2533C>G (p.Gln845Glu)
c.2530C>G (p.Gln844Glu)
c.2494C>G (p.Gln832Glu)
c.2413C>G (p.Gln805Glu)
c.2332C>G (p.Gln778Glu)
c.2251C>G (p.Gln751Glu)
c.2248C>G (p.Gln750Glu)
c.2173C>G (p.Gln725Glu)
c.2170C>G (p.Gln724Glu)
17g.12992844G=CA2248421336ELAC2c.2455C= (p.Gln819=)
c.2398C= (p.Gln800=)
c.2335C= (p.Gln779=)
n.2342C=
n.2284C=
n.3285C=
n.2001C=
c.1854C=
c.2452C= (p.Gln818=)
c.2614C= (p.Gln872=)
c.2536C= (p.Gln846=)
c.2533C= (p.Gln845=)
c.2530C= (p.Gln844=)
c.2494C= (p.Gln832=)
c.2413C= (p.Gln805=)
c.2332C= (p.Gln778=)
c.2251C= (p.Gln751=)
c.2248C= (p.Gln750=)
c.2173C= (p.Gln725=)
c.2170C= (p.Gln724=)
17g.12992844G>TCA398222049ELAC2c.2455C>A (p.Gln819Lys)
c.2398C>A (p.Gln800Lys)
c.2335C>A (p.Gln779Lys)
n.2342C>A
n.2284C>A
n.3285C>A
n.2001C>A
c.1854C>A
c.2452C>A (p.Gln818Lys)
c.2614C>A (p.Gln872Lys)
c.2536C>A (p.Gln846Lys)
c.2533C>A (p.Gln845Lys)
c.2530C>A (p.Gln844Lys)
c.2494C>A (p.Gln832Lys)
c.2413C>A (p.Gln805Lys)
c.2332C>A (p.Gln778Lys)
c.2251C>A (p.Gln751Lys)
c.2248C>A (p.Gln750Lys)
c.2173C>A (p.Gln725Lys)
c.2170C>A (p.Gln724Lys)
17g.12992845T>ACA498009563ELAC2c.2454A>T (p.Pro818=)
c.2397A>T (p.Pro799=)
c.2334A>T (p.Pro778=)
n.2341A>T
n.2283A>T
n.3284A>T
n.2000A>T
c.1853A>T
c.2451A>T (p.Pro817=)
c.2613A>T (p.Pro871=)
c.2535A>T (p.Pro845=)
c.2532A>T (p.Pro844=)
c.2529A>T (p.Pro843=)
c.2493A>T (p.Pro831=)
c.2412A>T (p.Pro804=)
c.2331A>T (p.Pro777=)
c.2250A>T (p.Pro750=)
c.2247A>T (p.Pro749=)
c.2172A>T (p.Pro724=)
c.2169A>T (p.Pro723=)
17g.12992845T>CCA498009564ELAC2c.2454A>G (p.Pro818=)
c.2397A>G (p.Pro799=)
c.2334A>G (p.Pro778=)
n.2341A>G
n.2283A>G
n.3284A>G
n.2000A>G
c.1853A>G
c.2451A>G (p.Pro817=)
c.2613A>G (p.Pro871=)
c.2535A>G (p.Pro845=)
c.2532A>G (p.Pro844=)
c.2529A>G (p.Pro843=)
c.2493A>G (p.Pro831=)
c.2412A>G (p.Pro804=)
c.2331A>G (p.Pro777=)
c.2250A>G (p.Pro750=)
c.2247A>G (p.Pro749=)
c.2172A>G (p.Pro724=)
c.2169A>G (p.Pro723=)
 ClinVar dbSNP gnomAD v4
17g.12992845T>GCA498009565ELAC2c.2454A>C (p.Pro818=)
c.2397A>C (p.Pro799=)
c.2334A>C (p.Pro778=)
n.2341A>C
n.2283A>C
n.3284A>C
n.2000A>C
c.1853A>C
c.2451A>C (p.Pro817=)
c.2613A>C (p.Pro871=)
c.2535A>C (p.Pro845=)
c.2532A>C (p.Pro844=)
c.2529A>C (p.Pro843=)
c.2493A>C (p.Pro831=)
c.2412A>C (p.Pro804=)
c.2331A>C (p.Pro777=)
c.2250A>C (p.Pro750=)
c.2247A>C (p.Pro749=)
c.2172A>C (p.Pro724=)
c.2169A>C (p.Pro723=)
17g.12992845T=CA2248421338ELAC2c.2454A= (p.Pro818=)
c.2397A= (p.Pro799=)
c.2334A= (p.Pro778=)
n.2341A=
n.2283A=
n.3284A=
n.2000A=
c.1853A=
c.2451A= (p.Pro817=)
c.2613A= (p.Pro871=)
c.2535A= (p.Pro845=)
c.2532A= (p.Pro844=)
c.2529A= (p.Pro843=)
c.2493A= (p.Pro831=)
c.2412A= (p.Pro804=)
c.2331A= (p.Pro777=)
c.2250A= (p.Pro750=)
c.2247A= (p.Pro749=)
c.2172A= (p.Pro724=)
c.2169A= (p.Pro723=)
17g.12992846G>ACA8400790ELAC2c.2453C>T (p.Pro818Leu)
c.2396C>T (p.Pro799Leu)
c.2333C>T (p.Pro778Leu)
n.2340C>T
n.2282C>T
n.3283C>T
n.1999C>T
c.1852C>T
c.2450C>T (p.Pro817Leu)
c.2612C>T (p.Pro871Leu)
c.2534C>T (p.Pro845Leu)
c.2531C>T (p.Pro844Leu)
c.2528C>T (p.Pro843Leu)
c.2492C>T (p.Pro831Leu)
c.2411C>T (p.Pro804Leu)
c.2330C>T (p.Pro777Leu)
c.2249C>T (p.Pro750Leu)
c.2246C>T (p.Pro749Leu)
c.2171C>T (p.Pro724Leu)
c.2168C>T (p.Pro723Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.12992846G>CCA398222051ELAC2c.2453C>G (p.Pro818Arg)
c.2396C>G (p.Pro799Arg)
c.2333C>G (p.Pro778Arg)
n.2340C>G
n.2282C>G
n.3283C>G
n.1999C>G
c.1852C>G
c.2450C>G (p.Pro817Arg)
c.2612C>G (p.Pro871Arg)
c.2534C>G (p.Pro845Arg)
c.2531C>G (p.Pro844Arg)
c.2528C>G (p.Pro843Arg)
c.2492C>G (p.Pro831Arg)
c.2411C>G (p.Pro804Arg)
c.2330C>G (p.Pro777Arg)
c.2249C>G (p.Pro750Arg)
c.2246C>G (p.Pro749Arg)
c.2171C>G (p.Pro724Arg)
c.2168C>G (p.Pro723Arg)
17g.12992846G=CA2248421341ELAC2c.2453C= (p.Pro818=)
c.2396C= (p.Pro799=)
c.2333C= (p.Pro778=)
n.2340C=
n.2282C=
n.3283C=
n.1999C=
c.1852C=
c.2450C= (p.Pro817=)
c.2612C= (p.Pro871=)
c.2534C= (p.Pro845=)
c.2531C= (p.Pro844=)
c.2528C= (p.Pro843=)
c.2492C= (p.Pro831=)
c.2411C= (p.Pro804=)
c.2330C= (p.Pro777=)
c.2249C= (p.Pro750=)
c.2246C= (p.Pro749=)
c.2171C= (p.Pro724=)
c.2168C= (p.Pro723=)
17g.12992846G>TCA398222052ELAC2c.2453C>A (p.Pro818Gln)
c.2396C>A (p.Pro799Gln)
c.2333C>A (p.Pro778Gln)
n.2340C>A
n.2282C>A
n.3283C>A
n.1999C>A
c.1852C>A
c.2450C>A (p.Pro817Gln)
c.2612C>A (p.Pro871Gln)
c.2534C>A (p.Pro845Gln)
c.2531C>A (p.Pro844Gln)
c.2528C>A (p.Pro843Gln)
c.2492C>A (p.Pro831Gln)
c.2411C>A (p.Pro804Gln)
c.2330C>A (p.Pro777Gln)
c.2249C>A (p.Pro750Gln)
c.2246C>A (p.Pro749Gln)
c.2171C>A (p.Pro724Gln)
c.2168C>A (p.Pro723Gln)
17g.12992847G>ACA398222053ELAC2c.2452C>T (p.Pro818Ser)
c.2395C>T (p.Pro799Ser)
c.2332C>T (p.Pro778Ser)
n.2339C>T
n.2281C>T
n.3282C>T
n.1998C>T
c.1851C>T
c.2449C>T (p.Pro817Ser)
c.2611C>T (p.Pro871Ser)
c.2533C>T (p.Pro845Ser)
c.2530C>T (p.Pro844Ser)
c.2527C>T (p.Pro843Ser)
c.2491C>T (p.Pro831Ser)
c.2410C>T (p.Pro804Ser)
c.2329C>T (p.Pro777Ser)
c.2248C>T (p.Pro750Ser)
c.2245C>T (p.Pro749Ser)
c.2170C>T (p.Pro724Ser)
c.2167C>T (p.Pro723Ser)
 gnomAD v4
17g.12992847G>CCA398222054ELAC2c.2452C>G (p.Pro818Ala)
c.2395C>G (p.Pro799Ala)
c.2332C>G (p.Pro778Ala)
n.2339C>G
n.2281C>G
n.3282C>G
n.1998C>G
c.1851C>G
c.2449C>G (p.Pro817Ala)
c.2611C>G (p.Pro871Ala)
c.2533C>G (p.Pro845Ala)
c.2530C>G (p.Pro844Ala)
c.2527C>G (p.Pro843Ala)
c.2491C>G (p.Pro831Ala)
c.2410C>G (p.Pro804Ala)
c.2329C>G (p.Pro777Ala)
c.2248C>G (p.Pro750Ala)
c.2245C>G (p.Pro749Ala)
c.2170C>G (p.Pro724Ala)
c.2167C>G (p.Pro723Ala)
17g.12992847G>TCA398222055ELAC2c.2452C>A (p.Pro818Thr)
c.2395C>A (p.Pro799Thr)
c.2332C>A (p.Pro778Thr)
n.2339C>A
n.2281C>A
n.3282C>A
n.1998C>A
c.1851C>A
c.2449C>A (p.Pro817Thr)
c.2611C>A (p.Pro871Thr)
c.2533C>A (p.Pro845Thr)
c.2530C>A (p.Pro844Thr)
c.2527C>A (p.Pro843Thr)
c.2491C>A (p.Pro831Thr)
c.2410C>A (p.Pro804Thr)
c.2329C>A (p.Pro777Thr)
c.2248C>A (p.Pro750Thr)
c.2245C>A (p.Pro749Thr)
c.2170C>A (p.Pro724Thr)
c.2167C>A (p.Pro723Thr)
17g.12992848C>ACA398222056ELAC2c.2451G>T (p.Glu817Asp)
c.2394G>T (p.Glu798Asp)
c.2331G>T (p.Glu777Asp)
n.2338G>T
n.2280G>T
n.3281G>T
n.1997G>T
c.1850G>T
c.2448G>T (p.Glu816Asp)
c.2610G>T (p.Glu870Asp)
c.2532G>T (p.Glu844Asp)
c.2529G>T (p.Glu843Asp)
c.2526G>T (p.Glu842Asp)
c.2490G>T (p.Glu830Asp)
c.2409G>T (p.Glu803Asp)
c.2328G>T (p.Glu776Asp)
c.2247G>T (p.Glu749Asp)
c.2244G>T (p.Glu748Asp)
c.2169G>T (p.Glu723Asp)
c.2166G>T (p.Glu722Asp)
17g.12992848C>GCA398222057ELAC2c.2451G>C (p.Glu817Asp)
c.2394G>C (p.Glu798Asp)
c.2331G>C (p.Glu777Asp)
n.2338G>C
n.2280G>C
n.3281G>C
n.1997G>C
c.1850G>C
c.2448G>C (p.Glu816Asp)
c.2610G>C (p.Glu870Asp)
c.2532G>C (p.Glu844Asp)
c.2529G>C (p.Glu843Asp)
c.2526G>C (p.Glu842Asp)
c.2490G>C (p.Glu830Asp)
c.2409G>C (p.Glu803Asp)
c.2328G>C (p.Glu776Asp)
c.2247G>C (p.Glu749Asp)
c.2244G>C (p.Glu748Asp)
c.2169G>C (p.Glu723Asp)
c.2166G>C (p.Glu722Asp)
17g.12992848C>TCA498009566ELAC2c.2451G>A (p.Glu817=)
c.2394G>A (p.Glu798=)
c.2331G>A (p.Glu777=)
n.2338G>A
n.2280G>A
n.3281G>A
n.1997G>A
c.1850G>A
c.2448G>A (p.Glu816=)
c.2610G>A (p.Glu870=)
c.2532G>A (p.Glu844=)
c.2529G>A (p.Glu843=)
c.2526G>A (p.Glu842=)
c.2490G>A (p.Glu830=)
c.2409G>A (p.Glu803=)
c.2328G>A (p.Glu776=)
c.2247G>A (p.Glu749=)
c.2244G>A (p.Glu748=)
c.2169G>A (p.Glu723=)
c.2166G>A (p.Glu722=)
17g.12992849T>ACA398222058ELAC2c.2450A>T (p.Glu817Val)
c.2393A>T (p.Glu798Val)
c.2330A>T (p.Glu777Val)
n.2337A>T
n.2279A>T
n.3280A>T
n.1996A>T
c.1849A>T
c.2447A>T (p.Glu816Val)
c.2609A>T (p.Glu870Val)
c.2531A>T (p.Glu844Val)
c.2528A>T (p.Glu843Val)
c.2525A>T (p.Glu842Val)
c.2489A>T (p.Glu830Val)
c.2408A>T (p.Glu803Val)
c.2327A>T (p.Glu776Val)
c.2246A>T (p.Glu749Val)
c.2243A>T (p.Glu748Val)
c.2168A>T (p.Glu723Val)
c.2165A>T (p.Glu722Val)
17g.12992849T>CCA398222059ELAC2c.2450A>G (p.Glu817Gly)
c.2393A>G (p.Glu798Gly)
c.2330A>G (p.Glu777Gly)
n.2337A>G
n.2279A>G
n.3280A>G
n.1996A>G
c.1849A>G
c.2447A>G (p.Glu816Gly)
c.2609A>G (p.Glu870Gly)
c.2531A>G (p.Glu844Gly)
c.2528A>G (p.Glu843Gly)
c.2525A>G (p.Glu842Gly)
c.2489A>G (p.Glu830Gly)
c.2408A>G (p.Glu803Gly)
c.2327A>G (p.Glu776Gly)
c.2246A>G (p.Glu749Gly)
c.2243A>G (p.Glu748Gly)
c.2168A>G (p.Glu723Gly)
c.2165A>G (p.Glu722Gly)
17g.12992849T>GCA398222060ELAC2c.2450A>C (p.Glu817Ala)
c.2393A>C (p.Glu798Ala)
c.2330A>C (p.Glu777Ala)
n.2337A>C
n.2279A>C
n.3280A>C
n.1996A>C
c.1849A>C
c.2447A>C (p.Glu816Ala)
c.2609A>C (p.Glu870Ala)
c.2531A>C (p.Glu844Ala)
c.2528A>C (p.Glu843Ala)
c.2525A>C (p.Glu842Ala)
c.2489A>C (p.Glu830Ala)
c.2408A>C (p.Glu803Ala)
c.2327A>C (p.Glu776Ala)
c.2246A>C (p.Glu749Ala)
c.2243A>C (p.Glu748Ala)
c.2168A>C (p.Glu723Ala)
c.2165A>C (p.Glu722Ala)
17g.12992850C>ACA398222062ELAC2c.2449G>T (p.Glu817Ter)
c.2392G>T (p.Glu798Ter)
c.2329G>T (p.Glu777Ter)
n.2336G>T
n.2278G>T
n.3279G>T
n.1995G>T
c.1848G>T
c.2446G>T (p.Glu816Ter)
c.2608G>T (p.Glu870Ter)
c.2530G>T (p.Glu844Ter)
c.2527G>T (p.Glu843Ter)
c.2524G>T (p.Glu842Ter)
c.2488G>T (p.Glu830Ter)
c.2407G>T (p.Glu803Ter)
c.2326G>T (p.Glu776Ter)
c.2245G>T (p.Glu749Ter)
c.2242G>T (p.Glu748Ter)
c.2167G>T (p.Glu723Ter)
c.2164G>T (p.Glu722Ter)
17g.12992850C=CA2248421345ELAC2c.2449G= (p.Glu817=)
c.2392G= (p.Glu798=)
c.2329G= (p.Glu777=)
n.2336G=
n.2278G=
n.3279G=
n.1995G=
c.1848G=
c.2446G= (p.Glu816=)
c.2608G= (p.Glu870=)
c.2530G= (p.Glu844=)
c.2527G= (p.Glu843=)
c.2524G= (p.Glu842=)
c.2488G= (p.Glu830=)
c.2407G= (p.Glu803=)
c.2326G= (p.Glu776=)
c.2245G= (p.Glu749=)
c.2242G= (p.Glu748=)
c.2167G= (p.Glu723=)
c.2164G= (p.Glu722=)
17g.12992850C>GCA398222061ELAC2c.2449G>C (p.Glu817Gln)
c.2392G>C (p.Glu798Gln)
c.2329G>C (p.Glu777Gln)
n.2336G>C
n.2278G>C
n.3279G>C
n.1995G>C
c.1848G>C
c.2446G>C (p.Glu816Gln)
c.2608G>C (p.Glu870Gln)
c.2530G>C (p.Glu844Gln)
c.2527G>C (p.Glu843Gln)
c.2524G>C (p.Glu842Gln)
c.2488G>C (p.Glu830Gln)
c.2407G>C (p.Glu803Gln)
c.2326G>C (p.Glu776Gln)
c.2245G>C (p.Glu749Gln)
c.2242G>C (p.Glu748Gln)
c.2167G>C (p.Glu723Gln)
c.2164G>C (p.Glu722Gln)
17g.12992850C>TCA8400791ELAC2c.2449G>A (p.Glu817Lys)
c.2392G>A (p.Glu798Lys)
c.2329G>A (p.Glu777Lys)
n.2336G>A
n.2278G>A
n.3279G>A
n.1995G>A
c.1848G>A
c.2446G>A (p.Glu816Lys)
c.2608G>A (p.Glu870Lys)
c.2530G>A (p.Glu844Lys)
c.2527G>A (p.Glu843Lys)
c.2524G>A (p.Glu842Lys)
c.2488G>A (p.Glu830Lys)
c.2407G>A (p.Glu803Lys)
c.2326G>A (p.Glu776Lys)
c.2245G>A (p.Glu749Lys)
c.2242G>A (p.Glu748Lys)
c.2167G>A (p.Glu723Lys)
c.2164G>A (p.Glu722Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.12992850_12992852delinsCCTCA2248421348ELAC2c.2447_2449delinsAGG (p.Glu816=)
c.2390_2392delinsAGG (p.Glu797=)
c.2327_2329delinsAGG (p.Glu776=)
n.2334_2336delinsAGG
n.2276_2278delinsAGG
n.3277_3279delinsAGG
n.1993_1995delinsAGG
c.1846_1848delinsAGG
c.2444_2446delinsAGG (p.Glu815=)
c.2606_2608delinsAGG (p.Glu869=)
c.2528_2530delinsAGG (p.Glu843=)
c.2525_2527delinsAGG (p.Glu842=)
c.2522_2524delinsAGG (p.Glu841=)
c.2486_2488delinsAGG (p.Glu829=)
c.2405_2407delinsAGG (p.Glu802=)
c.2324_2326delinsAGG (p.Glu775=)
c.2243_2245delinsAGG (p.Glu748=)
c.2240_2242delinsAGG (p.Glu747=)
c.2165_2167delinsAGG (p.Glu722=)
c.2162_2164delinsAGG (p.Glu721=)
17g.12992851C>ACA398222063ELAC2c.2448G>T (p.Glu816Asp)
c.2391G>T (p.Glu797Asp)
c.2328G>T (p.Glu776Asp)
n.2335G>T
n.2277G>T
n.3278G>T
n.1994G>T
c.1847G>T
c.2445G>T (p.Glu815Asp)
c.2607G>T (p.Glu869Asp)
c.2529G>T (p.Glu843Asp)
c.2526G>T (p.Glu842Asp)
c.2523G>T (p.Glu841Asp)
c.2487G>T (p.Glu829Asp)
c.2406G>T (p.Glu802Asp)
c.2325G>T (p.Glu775Asp)
c.2244G>T (p.Glu748Asp)
c.2241G>T (p.Glu747Asp)
c.2166G>T (p.Glu722Asp)
c.2163G>T (p.Glu721Asp)
17g.12992851C>GCA398222064ELAC2c.2448G>C (p.Glu816Asp)
c.2391G>C (p.Glu797Asp)
c.2328G>C (p.Glu776Asp)
n.2335G>C
n.2277G>C
n.3278G>C
n.1994G>C
c.1847G>C
c.2445G>C (p.Glu815Asp)
c.2607G>C (p.Glu869Asp)
c.2529G>C (p.Glu843Asp)
c.2526G>C (p.Glu842Asp)
c.2523G>C (p.Glu841Asp)
c.2487G>C (p.Glu829Asp)
c.2406G>C (p.Glu802Asp)
c.2325G>C (p.Glu775Asp)
c.2244G>C (p.Glu748Asp)
c.2241G>C (p.Glu747Asp)
c.2166G>C (p.Glu722Asp)
c.2163G>C (p.Glu721Asp)
17g.12992851C>TCA498009567ELAC2c.2448G>A (p.Glu816=)
c.2391G>A (p.Glu797=)
c.2328G>A (p.Glu776=)
n.2335G>A
n.2277G>A
n.3278G>A
n.1994G>A
c.1847G>A
c.2445G>A (p.Glu815=)
c.2607G>A (p.Glu869=)
c.2529G>A (p.Glu843=)
c.2526G>A (p.Glu842=)
c.2523G>A (p.Glu841=)
c.2487G>A (p.Glu829=)
c.2406G>A (p.Glu802=)
c.2325G>A (p.Glu775=)
c.2244G>A (p.Glu748=)
c.2241G>A (p.Glu747=)
c.2166G>A (p.Glu722=)
c.2163G>A (p.Glu721=)
17g.12992851_12992854delinsCTCTCA2248421351ELAC2c.2445_2448delinsAGAG (p.Thr815=)
c.2388_2391delinsAGAG (p.Thr796=)
c.2325_2328delinsAGAG (p.Thr775=)
n.2332_2335delinsAGAG
n.2274_2277delinsAGAG
n.3275_3278delinsAGAG
n.1991_1994delinsAGAG
c.1844_1847delinsAGAG
c.2442_2445delinsAGAG (p.Thr814=)
c.2604_2607delinsAGAG (p.Thr868=)
c.2526_2529delinsAGAG (p.Thr842=)
c.2523_2526delinsAGAG (p.Thr841=)
c.2520_2523delinsAGAG (p.Thr840=)
c.2484_2487delinsAGAG (p.Thr828=)
c.2403_2406delinsAGAG (p.Thr801=)
c.2322_2325delinsAGAG (p.Thr774=)
c.2241_2244delinsAGAG (p.Thr747=)
c.2238_2241delinsAGAG (p.Thr746=)
c.2163_2166delinsAGAG (p.Thr721=)
c.2160_2163delinsAGAG (p.Thr720=)
17g.12992853_12992854delCA624926720ELAC2c.2447_2448del (p.Glu816GlyfsTer?)
c.2390_2391del (p.Glu797GlyfsTer?)
c.2327_2328del (p.Glu776GlyfsTer?)
n.2334_2335del
n.2276_2277del
n.3277_3278del
n.1993_1994del
c.1846_1847del
c.2444_2445del (p.Glu815GlyfsTer?)
c.2606_2607del (p.Glu869GlyfsTer?)
c.2528_2529del (p.Glu843GlyfsTer?)
c.2525_2526del (p.Glu842GlyfsTer?)
c.2522_2523del (p.Glu841GlyfsTer?)
c.2486_2487del (p.Glu829GlyfsTer?)
c.2405_2406del (p.Glu802GlyfsTer?)
c.2324_2325del (p.Glu775GlyfsTer?)
c.2243_2244del (p.Glu748GlyfsTer?)
c.2240_2241del (p.Glu747GlyfsTer?)
c.2165_2166del (p.Glu722GlyfsTer?)
c.2162_2163del (p.Glu721GlyfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.12992852T>ACA398222065ELAC2c.2447A>T (p.Glu816Val)
c.2390A>T (p.Glu797Val)
c.2327A>T (p.Glu776Val)
n.2334A>T
n.2276A>T
n.3277A>T
n.1993A>T
c.1846A>T
c.2444A>T (p.Glu815Val)
c.2606A>T (p.Glu869Val)
c.2528A>T (p.Glu843Val)
c.2525A>T (p.Glu842Val)
c.2522A>T (p.Glu841Val)
c.2486A>T (p.Glu829Val)
c.2405A>T (p.Glu802Val)
c.2324A>T (p.Glu775Val)
c.2243A>T (p.Glu748Val)
c.2240A>T (p.Glu747Val)
c.2165A>T (p.Glu722Val)
c.2162A>T (p.Glu721Val)
17g.12992852T>CCA398222066ELAC2c.2447A>G (p.Glu816Gly)
c.2390A>G (p.Glu797Gly)
c.2327A>G (p.Glu776Gly)
n.2334A>G
n.2276A>G
n.3277A>G
n.1993A>G
c.1846A>G
c.2444A>G (p.Glu815Gly)
c.2606A>G (p.Glu869Gly)
c.2528A>G (p.Glu843Gly)
c.2525A>G (p.Glu842Gly)
c.2522A>G (p.Glu841Gly)
c.2486A>G (p.Glu829Gly)
c.2405A>G (p.Glu802Gly)
c.2324A>G (p.Glu775Gly)
c.2243A>G (p.Glu748Gly)
c.2240A>G (p.Glu747Gly)
c.2165A>G (p.Glu722Gly)
c.2162A>G (p.Glu721Gly)
 gnomAD v4
17g.12992852T>GCA398222067ELAC2c.2447A>C (p.Glu816Ala)
c.2390A>C (p.Glu797Ala)
c.2327A>C (p.Glu776Ala)
n.2334A>C
n.2276A>C
n.3277A>C
n.1993A>C
c.1846A>C
c.2444A>C (p.Glu815Ala)
c.2606A>C (p.Glu869Ala)
c.2528A>C (p.Glu843Ala)
c.2525A>C (p.Glu842Ala)
c.2522A>C (p.Glu841Ala)
c.2486A>C (p.Glu829Ala)
c.2405A>C (p.Glu802Ala)
c.2324A>C (p.Glu775Ala)
c.2243A>C (p.Glu748Ala)
c.2240A>C (p.Glu747Ala)
c.2165A>C (p.Glu722Ala)
c.2162A>C (p.Glu721Ala)
17g.12992852_12992854delCA726211189ELAC2c.2445_2447del (p.Glu816del)
c.2388_2390del (p.Glu797del)
c.2325_2327del (p.Glu776del)
n.2332_2334del
n.2274_2276del
n.3275_3277del
n.1991_1993del
c.1844_1846del
c.2442_2444del (p.Glu815del)
c.2604_2606del (p.Glu869del)
c.2526_2528del (p.Glu843del)
c.2523_2525del (p.Glu842del)
c.2520_2522del (p.Glu841del)
c.2484_2486del (p.Glu829del)
c.2403_2405del (p.Glu802del)
c.2322_2324del (p.Glu775del)
c.2241_2243del (p.Glu748del)
c.2238_2240del (p.Glu747del)
c.2163_2165del (p.Glu722del)
c.2160_2162del (p.Glu721del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.12992853C>ACA398222068ELAC2c.2446G>T (p.Glu816Ter)
c.2389G>T (p.Glu797Ter)
c.2326G>T (p.Glu776Ter)
n.2333G>T
n.2275G>T
n.3276G>T
n.1992G>T
c.1845G>T
c.2443G>T (p.Glu815Ter)
c.2605G>T (p.Glu869Ter)
c.2527G>T (p.Glu843Ter)
c.2524G>T (p.Glu842Ter)
c.2521G>T (p.Glu841Ter)
c.2485G>T (p.Glu829Ter)
c.2404G>T (p.Glu802Ter)
c.2323G>T (p.Glu775Ter)
c.2242G>T (p.Glu748Ter)
c.2239G>T (p.Glu747Ter)
c.2164G>T (p.Glu722Ter)
c.2161G>T (p.Glu721Ter)
17g.12992853C=CA2248421365ELAC2c.2446G= (p.Glu816=)
c.2389G= (p.Glu797=)
c.2326G= (p.Glu776=)
n.2333G=
n.2275G=
n.3276G=
n.1992G=
c.1845G=
c.2443G= (p.Glu815=)
c.2605G= (p.Glu869=)
c.2527G= (p.Glu843=)
c.2524G= (p.Glu842=)
c.2521G= (p.Glu841=)
c.2485G= (p.Glu829=)
c.2404G= (p.Glu802=)
c.2323G= (p.Glu775=)
c.2242G= (p.Glu748=)
c.2239G= (p.Glu747=)
c.2164G= (p.Glu722=)
c.2161G= (p.Glu721=)
17g.12992853C>GCA398222069ELAC2c.2446G>C (p.Glu816Gln)
c.2389G>C (p.Glu797Gln)
c.2326G>C (p.Glu776Gln)
n.2333G>C
n.2275G>C
n.3276G>C
n.1992G>C
c.1845G>C
c.2443G>C (p.Glu815Gln)
c.2605G>C (p.Glu869Gln)
c.2527G>C (p.Glu843Gln)
c.2524G>C (p.Glu842Gln)
c.2521G>C (p.Glu841Gln)
c.2485G>C (p.Glu829Gln)
c.2404G>C (p.Glu802Gln)
c.2323G>C (p.Glu775Gln)
c.2242G>C (p.Glu748Gln)
c.2239G>C (p.Glu747Gln)
c.2164G>C (p.Glu722Gln)
c.2161G>C (p.Glu721Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.12992853C>TCA398222070ELAC2c.2446G>A (p.Glu816Lys)
c.2389G>A (p.Glu797Lys)
c.2326G>A (p.Glu776Lys)
n.2333G>A
n.2275G>A
n.3276G>A
n.1992G>A
c.1845G>A
c.2443G>A (p.Glu815Lys)
c.2605G>A (p.Glu869Lys)
c.2527G>A (p.Glu843Lys)
c.2524G>A (p.Glu842Lys)
c.2521G>A (p.Glu841Lys)
c.2485G>A (p.Glu829Lys)
c.2404G>A (p.Glu802Lys)
c.2323G>A (p.Glu775Lys)
c.2242G>A (p.Glu748Lys)
c.2239G>A (p.Glu747Lys)
c.2164G>A (p.Glu722Lys)
c.2161G>A (p.Glu721Lys)
17g.12992853_12992855delinsCTGCA2248421366ELAC2c.2444_2446delinsCAG (p.Thr815=)
c.2387_2389delinsCAG (p.Thr796=)
c.2324_2326delinsCAG (p.Thr775=)
n.2331_2333delinsCAG
n.2273_2275delinsCAG
n.3274_3276delinsCAG
n.1990_1992delinsCAG
c.1843_1845delinsCAG
c.2441_2443delinsCAG (p.Thr814=)
c.2603_2605delinsCAG (p.Thr868=)
c.2525_2527delinsCAG (p.Thr842=)
c.2522_2524delinsCAG (p.Thr841=)
c.2519_2521delinsCAG (p.Thr840=)
c.2483_2485delinsCAG (p.Thr828=)
c.2402_2404delinsCAG (p.Thr801=)
c.2321_2323delinsCAG (p.Thr774=)
c.2240_2242delinsCAG (p.Thr747=)
c.2237_2239delinsCAG (p.Thr746=)
c.2162_2164delinsCAG (p.Thr721=)
c.2159_2161delinsCAG (p.Thr720=)
17g.12992854T>ACA498009568ELAC2c.2445A>T (p.Thr815=)
c.2388A>T (p.Thr796=)
c.2325A>T (p.Thr775=)
n.2332A>T
n.2274A>T
n.3275A>T
n.1991A>T
c.1844A>T
c.2442A>T (p.Thr814=)
c.2604A>T (p.Thr868=)
c.2526A>T (p.Thr842=)
c.2523A>T (p.Thr841=)
c.2520A>T (p.Thr840=)
c.2484A>T (p.Thr828=)
c.2403A>T (p.Thr801=)
c.2322A>T (p.Thr774=)
c.2241A>T (p.Thr747=)
c.2238A>T (p.Thr746=)
c.2163A>T (p.Thr721=)
c.2160A>T (p.Thr720=)
17g.12992854T>CCA498009569ELAC2c.2445A>G (p.Thr815=)
c.2388A>G (p.Thr796=)
c.2325A>G (p.Thr775=)
n.2332A>G
n.2274A>G
n.3275A>G
n.1991A>G
c.1844A>G
c.2442A>G (p.Thr814=)
c.2604A>G (p.Thr868=)
c.2526A>G (p.Thr842=)
c.2523A>G (p.Thr841=)
c.2520A>G (p.Thr840=)
c.2484A>G (p.Thr828=)
c.2403A>G (p.Thr801=)
c.2322A>G (p.Thr774=)
c.2241A>G (p.Thr747=)
c.2238A>G (p.Thr746=)
c.2163A>G (p.Thr721=)
c.2160A>G (p.Thr720=)
 dbSNP gnomAD v3 gnomAD v4
17g.12992854T>GCA498009570ELAC2c.2445A>C (p.Thr815=)
c.2388A>C (p.Thr796=)
c.2325A>C (p.Thr775=)
n.2332A>C
n.2274A>C
n.3275A>C
n.1991A>C
c.1844A>C
c.2442A>C (p.Thr814=)
c.2604A>C (p.Thr868=)
c.2526A>C (p.Thr842=)
c.2523A>C (p.Thr841=)
c.2520A>C (p.Thr840=)
c.2484A>C (p.Thr828=)
c.2403A>C (p.Thr801=)
c.2322A>C (p.Thr774=)
c.2241A>C (p.Thr747=)
c.2238A>C (p.Thr746=)
c.2163A>C (p.Thr721=)
c.2160A>C (p.Thr720=)
17g.12992854T=CA2248421369ELAC2c.2445A= (p.Thr815=)
c.2388A= (p.Thr796=)
c.2325A= (p.Thr775=)
n.2332A=
n.2274A=
n.3275A=
n.1991A=
c.1844A=
c.2442A= (p.Thr814=)
c.2604A= (p.Thr868=)
c.2526A= (p.Thr842=)
c.2523A= (p.Thr841=)
c.2520A= (p.Thr840=)
c.2484A= (p.Thr828=)
c.2403A= (p.Thr801=)
c.2322A= (p.Thr774=)
c.2241A= (p.Thr747=)
c.2238A= (p.Thr746=)
c.2163A= (p.Thr721=)
c.2160A= (p.Thr720=)
17g.12992858_12992859delCA8400792ELAC2c.2444_2445del (p.Thr815ArgfsTer?)
c.2387_2388del (p.Thr796ArgfsTer?)
c.2324_2325del (p.Thr775ArgfsTer?)
n.2331_2332del
n.2273_2274del
n.3274_3275del
n.1990_1991del
c.1843_1844del
c.2441_2442del (p.Thr814ArgfsTer?)
c.2603_2604del (p.Thr868ArgfsTer?)
c.2525_2526del (p.Thr842ArgfsTer?)
c.2522_2523del (p.Thr841ArgfsTer?)
c.2519_2520del (p.Thr840ArgfsTer?)
c.2483_2484del (p.Thr828ArgfsTer?)
c.2402_2403del (p.Thr801ArgfsTer?)
c.2321_2322del (p.Thr774ArgfsTer?)
c.2240_2241del (p.Thr747ArgfsTer?)
c.2237_2238del (p.Thr746ArgfsTer?)
c.2162_2163del (p.Thr721ArgfsTer?)
c.2159_2160del (p.Thr720ArgfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.12992855G>ACA398222071ELAC2c.2444C>T (p.Thr815Ile)
c.2387C>T (p.Thr796Ile)
c.2324C>T (p.Thr775Ile)
n.2331C>T
n.2273C>T
n.3274C>T
n.1990C>T
c.1843C>T
c.2441C>T (p.Thr814Ile)
c.2603C>T (p.Thr868Ile)
c.2525C>T (p.Thr842Ile)
c.2522C>T (p.Thr841Ile)
c.2519C>T (p.Thr840Ile)
c.2483C>T (p.Thr828Ile)
c.2402C>T (p.Thr801Ile)
c.2321C>T (p.Thr774Ile)
c.2240C>T (p.Thr747Ile)
c.2237C>T (p.Thr746Ile)
c.2162C>T (p.Thr721Ile)
c.2159C>T (p.Thr720Ile)
 gnomAD v4
17g.12992855G>CCA288074925ELAC2c.2444C>G (p.Thr815Arg)
c.2387C>G (p.Thr796Arg)
c.2324C>G (p.Thr775Arg)
n.2331C>G
n.2273C>G
n.3274C>G
n.1990C>G
c.1843C>G
c.2441C>G (p.Thr814Arg)
c.2603C>G (p.Thr868Arg)
c.2525C>G (p.Thr842Arg)
c.2522C>G (p.Thr841Arg)
c.2519C>G (p.Thr840Arg)
c.2483C>G (p.Thr828Arg)
c.2402C>G (p.Thr801Arg)
c.2321C>G (p.Thr774Arg)
c.2240C>G (p.Thr747Arg)
c.2237C>G (p.Thr746Arg)
c.2162C>G (p.Thr721Arg)
c.2159C>G (p.Thr720Arg)
 dbSNP
17g.12992855G=CA2248421372ELAC2c.2444C= (p.Thr815=)
c.2387C= (p.Thr796=)
c.2324C= (p.Thr775=)
n.2331C=
n.2273C=
n.3274C=
n.1990C=
c.1843C=
c.2441C= (p.Thr814=)
c.2603C= (p.Thr868=)
c.2525C= (p.Thr842=)
c.2522C= (p.Thr841=)
c.2519C= (p.Thr840=)
c.2483C= (p.Thr828=)
c.2402C= (p.Thr801=)
c.2321C= (p.Thr774=)
c.2240C= (p.Thr747=)
c.2237C= (p.Thr746=)
c.2162C= (p.Thr721=)
c.2159C= (p.Thr720=)
17g.12992855G>TCA398222072ELAC2c.2444C>A (p.Thr815Lys)
c.2387C>A (p.Thr796Lys)
c.2324C>A (p.Thr775Lys)
n.2331C>A
n.2273C>A
n.3274C>A
n.1990C>A
c.1843C>A
c.2441C>A (p.Thr814Lys)
c.2603C>A (p.Thr868Lys)
c.2525C>A (p.Thr842Lys)
c.2522C>A (p.Thr841Lys)
c.2519C>A (p.Thr840Lys)
c.2483C>A (p.Thr828Lys)
c.2402C>A (p.Thr801Lys)
c.2321C>A (p.Thr774Lys)
c.2240C>A (p.Thr747Lys)
c.2237C>A (p.Thr746Lys)
c.2162C>A (p.Thr721Lys)
c.2159C>A (p.Thr720Lys)
17g.12992856T>ACA398222075ELAC2c.2443A>T (p.Thr815Ser)
c.2386A>T (p.Thr796Ser)
c.2323A>T (p.Thr775Ser)
n.2330A>T
n.2272A>T
n.3273A>T
n.1989A>T
c.1842A>T
c.2440A>T (p.Thr814Ser)
c.2602A>T (p.Thr868Ser)
c.2524A>T (p.Thr842Ser)
c.2521A>T (p.Thr841Ser)
c.2518A>T (p.Thr840Ser)
c.2482A>T (p.Thr828Ser)
c.2401A>T (p.Thr801Ser)
c.2320A>T (p.Thr774Ser)
c.2239A>T (p.Thr747Ser)
c.2236A>T (p.Thr746Ser)
c.2161A>T (p.Thr721Ser)
c.2158A>T (p.Thr720Ser)
17g.12992856T>CCA398222074ELAC2c.2443A>G (p.Thr815Ala)
c.2386A>G (p.Thr796Ala)
c.2323A>G (p.Thr775Ala)
n.2330A>G
n.2272A>G
n.3273A>G
n.1989A>G
c.1842A>G
c.2440A>G (p.Thr814Ala)
c.2602A>G (p.Thr868Ala)
c.2524A>G (p.Thr842Ala)
c.2521A>G (p.Thr841Ala)
c.2518A>G (p.Thr840Ala)
c.2482A>G (p.Thr828Ala)
c.2401A>G (p.Thr801Ala)
c.2320A>G (p.Thr774Ala)
c.2239A>G (p.Thr747Ala)
c.2236A>G (p.Thr746Ala)
c.2161A>G (p.Thr721Ala)
c.2158A>G (p.Thr720Ala)
 gnomAD v4
17g.12992856T>GCA398222073ELAC2c.2443A>C (p.Thr815Pro)
c.2386A>C (p.Thr796Pro)
c.2323A>C (p.Thr775Pro)
n.2330A>C
n.2272A>C
n.3273A>C
n.1989A>C
c.1842A>C
c.2440A>C (p.Thr814Pro)
c.2602A>C (p.Thr868Pro)
c.2524A>C (p.Thr842Pro)
c.2521A>C (p.Thr841Pro)
c.2518A>C (p.Thr840Pro)
c.2482A>C (p.Thr828Pro)
c.2401A>C (p.Thr801Pro)
c.2320A>C (p.Thr774Pro)
c.2239A>C (p.Thr747Pro)
c.2236A>C (p.Thr746Pro)
c.2161A>C (p.Thr721Pro)
c.2158A>C (p.Thr720Pro)
17g.12992857G>ACA498009571ELAC2c.2442C>T (p.His814=)
c.2385C>T (p.His795=)
c.2322C>T (p.His774=)
n.2329C>T
n.2271C>T
n.3272C>T
n.1988C>T
c.1841C>T
c.2439C>T (p.His813=)
c.2601C>T (p.His867=)
c.2523C>T (p.His841=)
c.2520C>T (p.His840=)
c.2517C>T (p.His839=)
c.2481C>T (p.His827=)
c.2400C>T (p.His800=)
c.2319C>T (p.His773=)
c.2238C>T (p.His746=)
c.2235C>T (p.His745=)
c.2160C>T (p.His720=)
c.2157C>T (p.His719=)
17g.12992857G>CCA398222076ELAC2c.2442C>G (p.His814Gln)
c.2385C>G (p.His795Gln)
c.2322C>G (p.His774Gln)
n.2329C>G
n.2271C>G
n.3272C>G
n.1988C>G
c.1841C>G
c.2439C>G (p.His813Gln)
c.2601C>G (p.His867Gln)
c.2523C>G (p.His841Gln)
c.2520C>G (p.His840Gln)
c.2517C>G (p.His839Gln)
c.2481C>G (p.His827Gln)
c.2400C>G (p.His800Gln)
c.2319C>G (p.His773Gln)
c.2238C>G (p.His746Gln)
c.2235C>G (p.His745Gln)
c.2160C>G (p.His720Gln)
c.2157C>G (p.His719Gln)
17g.12992857G>TCA398222077ELAC2c.2442C>A (p.His814Gln)
c.2385C>A (p.His795Gln)
c.2322C>A (p.His774Gln)
n.2329C>A
n.2271C>A
n.3272C>A
n.1988C>A
c.1841C>A
c.2439C>A (p.His813Gln)
c.2601C>A (p.His867Gln)
c.2523C>A (p.His841Gln)
c.2520C>A (p.His840Gln)
c.2517C>A (p.His839Gln)
c.2481C>A (p.His827Gln)
c.2400C>A (p.His800Gln)
c.2319C>A (p.His773Gln)
c.2238C>A (p.His746Gln)
c.2235C>A (p.His745Gln)
c.2160C>A (p.His720Gln)
c.2157C>A (p.His719Gln)
 gnomAD v4
17g.12992858T>ACA398222078ELAC2c.2441A>T (p.His814Leu)
c.2384A>T (p.His795Leu)
c.2321A>T (p.His774Leu)
n.2328A>T
n.2270A>T
n.3271A>T
n.1987A>T
c.1840A>T
c.2438A>T (p.His813Leu)
c.2600A>T (p.His867Leu)
c.2522A>T (p.His841Leu)
c.2519A>T (p.His840Leu)
c.2516A>T (p.His839Leu)
c.2480A>T (p.His827Leu)
c.2399A>T (p.His800Leu)
c.2318A>T (p.His773Leu)
c.2237A>T (p.His746Leu)
c.2234A>T (p.His745Leu)
c.2159A>T (p.His720Leu)
c.2156A>T (p.His719Leu)
17g.12992858T>CCA398222079ELAC2c.2441A>G (p.His814Arg)
c.2384A>G (p.His795Arg)
c.2321A>G (p.His774Arg)
n.2328A>G
n.2270A>G
n.3271A>G
n.1987A>G
c.1840A>G
c.2438A>G (p.His813Arg)
c.2600A>G (p.His867Arg)
c.2522A>G (p.His841Arg)
c.2519A>G (p.His840Arg)
c.2516A>G (p.His839Arg)
c.2480A>G (p.His827Arg)
c.2399A>G (p.His800Arg)
c.2318A>G (p.His773Arg)
c.2237A>G (p.His746Arg)
c.2234A>G (p.His745Arg)
c.2159A>G (p.His720Arg)
c.2156A>G (p.His719Arg)
 gnomAD v4
17g.12992858T>GCA398222080ELAC2c.2441A>C (p.His814Pro)
c.2384A>C (p.His795Pro)
c.2321A>C (p.His774Pro)
n.2328A>C
n.2270A>C
n.3271A>C
n.1987A>C
c.1840A>C
c.2438A>C (p.His813Pro)
c.2600A>C (p.His867Pro)
c.2522A>C (p.His841Pro)
c.2519A>C (p.His840Pro)
c.2516A>C (p.His839Pro)
c.2480A>C (p.His827Pro)
c.2399A>C (p.His800Pro)
c.2318A>C (p.His773Pro)
c.2237A>C (p.His746Pro)
c.2234A>C (p.His745Pro)
c.2159A>C (p.His720Pro)
c.2156A>C (p.His719Pro)
17g.12992859G>ACA398222083ELAC2c.2440C>T (p.His814Tyr)
c.2383C>T (p.His795Tyr)
c.2320C>T (p.His774Tyr)
n.2327C>T
n.2269C>T
n.3270C>T
n.1986C>T
c.1839C>T
c.2437C>T (p.His813Tyr)
c.2599C>T (p.His867Tyr)
c.2521C>T (p.His841Tyr)
c.2518C>T (p.His840Tyr)
c.2515C>T (p.His839Tyr)
c.2479C>T (p.His827Tyr)
c.2398C>T (p.His800Tyr)
c.2317C>T (p.His773Tyr)
c.2236C>T (p.His746Tyr)
c.2233C>T (p.His745Tyr)
c.2158C>T (p.His720Tyr)
c.2155C>T (p.His719Tyr)
 COSMIC
17g.12992859G>CCA398222082ELAC2c.2440C>G (p.His814Asp)
c.2383C>G (p.His795Asp)
c.2320C>G (p.His774Asp)
n.2327C>G
n.2269C>G
n.3270C>G
n.1986C>G
c.1839C>G
c.2437C>G (p.His813Asp)
c.2599C>G (p.His867Asp)
c.2521C>G (p.His841Asp)
c.2518C>G (p.His840Asp)
c.2515C>G (p.His839Asp)
c.2479C>G (p.His827Asp)
c.2398C>G (p.His800Asp)
c.2317C>G (p.His773Asp)
c.2236C>G (p.His746Asp)
c.2233C>G (p.His745Asp)
c.2158C>G (p.His720Asp)
c.2155C>G (p.His719Asp)
17g.12992859G>TCA398222081ELAC2c.2440C>A (p.His814Asn)
c.2383C>A (p.His795Asn)
c.2320C>A (p.His774Asn)
n.2327C>A
n.2269C>A
n.3270C>A
n.1986C>A
c.1839C>A
c.2437C>A (p.His813Asn)
c.2599C>A (p.His867Asn)
c.2521C>A (p.His841Asn)
c.2518C>A (p.His840Asn)
c.2515C>A (p.His839Asn)
c.2479C>A (p.His827Asn)
c.2398C>A (p.His800Asn)
c.2317C>A (p.His773Asn)
c.2236C>A (p.His746Asn)
c.2233C>A (p.His745Asn)
c.2158C>A (p.His720Asn)
c.2155C>A (p.His719Asn)
17g.12992860G>ACA498009573ELAC2c.2439C>T (p.Ala813=)
c.2382C>T (p.Ala794=)
c.2319C>T (p.Ala773=)
n.2326C>T
n.2268C>T
n.3269C>T
n.1985C>T
c.1838C>T
c.2436C>T (p.Ala812=)
c.2598C>T (p.Ala866=)
c.2520C>T (p.Ala840=)
c.2517C>T (p.Ala839=)
c.2514C>T (p.Ala838=)
c.2478C>T (p.Ala826=)
c.2397C>T (p.Ala799=)
c.2316C>T (p.Ala772=)
c.2235C>T (p.Ala745=)
c.2232C>T (p.Ala744=)
c.2157C>T (p.Ala719=)
c.2154C>T (p.Ala718=)
17g.12992860G>CCA498009574ELAC2c.2439C>G (p.Ala813=)
c.2382C>G (p.Ala794=)
c.2319C>G (p.Ala773=)
n.2326C>G
n.2268C>G
n.3269C>G
n.1985C>G
c.1838C>G
c.2436C>G (p.Ala812=)
c.2598C>G (p.Ala866=)
c.2520C>G (p.Ala840=)
c.2517C>G (p.Ala839=)
c.2514C>G (p.Ala838=)
c.2478C>G (p.Ala826=)
c.2397C>G (p.Ala799=)
c.2316C>G (p.Ala772=)
c.2235C>G (p.Ala745=)
c.2232C>G (p.Ala744=)
c.2157C>G (p.Ala719=)
c.2154C>G (p.Ala718=)
17g.12992860G>TCA498009575ELAC2c.2439C>A (p.Ala813=)
c.2382C>A (p.Ala794=)
c.2319C>A (p.Ala773=)
n.2326C>A
n.2268C>A
n.3269C>A
n.1985C>A
c.1838C>A
c.2436C>A (p.Ala812=)
c.2598C>A (p.Ala866=)
c.2520C>A (p.Ala840=)
c.2517C>A (p.Ala839=)
c.2514C>A (p.Ala838=)
c.2478C>A (p.Ala826=)
c.2397C>A (p.Ala799=)
c.2316C>A (p.Ala772=)
c.2235C>A (p.Ala745=)
c.2232C>A (p.Ala744=)
c.2157C>A (p.Ala719=)
c.2154C>A (p.Ala718=)
 gnomAD v4
17g.12992861G>ACA398222084ELAC2c.2438C>T (p.Ala813Val)
c.2381C>T (p.Ala794Val)
c.2318C>T (p.Ala773Val)
n.2325C>T
n.2267C>T
n.3268C>T
n.1984C>T
c.1837C>T
c.2435C>T (p.Ala812Val)
c.2597C>T (p.Ala866Val)
c.2519C>T (p.Ala840Val)
c.2516C>T (p.Ala839Val)
c.2513C>T (p.Ala838Val)
c.2477C>T (p.Ala826Val)
c.2396C>T (p.Ala799Val)
c.2315C>T (p.Ala772Val)
c.2234C>T (p.Ala745Val)
c.2231C>T (p.Ala744Val)
c.2156C>T (p.Ala719Val)
c.2153C>T (p.Ala718Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.12992861G>CCA398222085ELAC2c.2438C>G (p.Ala813Gly)
c.2381C>G (p.Ala794Gly)
c.2318C>G (p.Ala773Gly)
n.2325C>G
n.2267C>G
n.3268C>G
n.1984C>G
c.1837C>G
c.2435C>G (p.Ala812Gly)
c.2597C>G (p.Ala866Gly)
c.2519C>G (p.Ala840Gly)
c.2516C>G (p.Ala839Gly)
c.2513C>G (p.Ala838Gly)
c.2477C>G (p.Ala826Gly)
c.2396C>G (p.Ala799Gly)
c.2315C>G (p.Ala772Gly)
c.2234C>G (p.Ala745Gly)
c.2231C>G (p.Ala744Gly)
c.2156C>G (p.Ala719Gly)
c.2153C>G (p.Ala718Gly)
 gnomAD v4
17g.12992861G=CA2248421376ELAC2c.2438C= (p.Ala813=)
c.2381C= (p.Ala794=)
c.2318C= (p.Ala773=)
n.2325C=
n.2267C=
n.3268C=
n.1984C=
c.1837C=
c.2435C= (p.Ala812=)
c.2597C= (p.Ala866=)
c.2519C= (p.Ala840=)
c.2516C= (p.Ala839=)
c.2513C= (p.Ala838=)
c.2477C= (p.Ala826=)
c.2396C= (p.Ala799=)
c.2315C= (p.Ala772=)
c.2234C= (p.Ala745=)
c.2231C= (p.Ala744=)
c.2156C= (p.Ala719=)
c.2153C= (p.Ala718=)
17g.12992861G>TCA398222086ELAC2c.2438C>A (p.Ala813Asp)
c.2381C>A (p.Ala794Asp)
c.2318C>A (p.Ala773Asp)
n.2325C>A
n.2267C>A
n.3268C>A
n.1984C>A
c.1837C>A
c.2435C>A (p.Ala812Asp)
c.2597C>A (p.Ala866Asp)
c.2519C>A (p.Ala840Asp)
c.2516C>A (p.Ala839Asp)
c.2513C>A (p.Ala838Asp)
c.2477C>A (p.Ala826Asp)
c.2396C>A (p.Ala799Asp)
c.2315C>A (p.Ala772Asp)
c.2234C>A (p.Ala745Asp)
c.2231C>A (p.Ala744Asp)
c.2156C>A (p.Ala719Asp)
c.2153C>A (p.Ala718Asp)
17g.12992862C>ACA398222087ELAC2c.2437G>T (p.Ala813Ser)
c.2380G>T (p.Ala794Ser)
c.2317G>T (p.Ala773Ser)
n.2324G>T
n.2266G>T
n.3267G>T
n.1983G>T
c.1836G>T
c.2434G>T (p.Ala812Ser)
c.2596G>T (p.Ala866Ser)
c.2518G>T (p.Ala840Ser)
c.2515G>T (p.Ala839Ser)
c.2512G>T (p.Ala838Ser)
c.2476G>T (p.Ala826Ser)
c.2395G>T (p.Ala799Ser)
c.2314G>T (p.Ala772Ser)
c.2233G>T (p.Ala745Ser)
c.2230G>T (p.Ala744Ser)
c.2155G>T (p.Ala719Ser)
c.2152G>T (p.Ala718Ser)
 gnomAD v4
17g.12992862C=CA2248421379ELAC2c.2437G= (p.Ala813=)
c.2380G= (p.Ala794=)
c.2317G= (p.Ala773=)
n.2324G=
n.2266G=
n.3267G=
n.1983G=
c.1836G=
c.2434G= (p.Ala812=)
c.2596G= (p.Ala866=)
c.2518G= (p.Ala840=)
c.2515G= (p.Ala839=)
c.2512G= (p.Ala838=)
c.2476G= (p.Ala826=)
c.2395G= (p.Ala799=)
c.2314G= (p.Ala772=)
c.2233G= (p.Ala745=)
c.2230G= (p.Ala744=)
c.2155G= (p.Ala719=)
c.2152G= (p.Ala718=)
17g.12992862C>GCA8400793ELAC2c.2437G>C (p.Ala813Pro)
c.2380G>C (p.Ala794Pro)
c.2317G>C (p.Ala773Pro)
n.2324G>C
n.2266G>C
n.3267G>C
n.1983G>C
c.1836G>C
c.2434G>C (p.Ala812Pro)
c.2596G>C (p.Ala866Pro)
c.2518G>C (p.Ala840Pro)
c.2515G>C (p.Ala839Pro)
c.2512G>C (p.Ala838Pro)
c.2476G>C (p.Ala826Pro)
c.2395G>C (p.Ala799Pro)
c.2314G>C (p.Ala772Pro)
c.2233G>C (p.Ala745Pro)
c.2230G>C (p.Ala744Pro)
c.2155G>C (p.Ala719Pro)
c.2152G>C (p.Ala718Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.12992862C>TCA398222088ELAC2c.2437G>A (p.Ala813Thr)
c.2380G>A (p.Ala794Thr)
c.2317G>A (p.Ala773Thr)
n.2324G>A
n.2266G>A
n.3267G>A
n.1983G>A
c.1836G>A
c.2434G>A (p.Ala812Thr)
c.2596G>A (p.Ala866Thr)
c.2518G>A (p.Ala840Thr)
c.2515G>A (p.Ala839Thr)
c.2512G>A (p.Ala838Thr)
c.2476G>A (p.Ala826Thr)
c.2395G>A (p.Ala799Thr)
c.2314G>A (p.Ala772Thr)
c.2233G>A (p.Ala745Thr)
c.2230G>A (p.Ala744Thr)
c.2155G>A (p.Ala719Thr)
c.2152G>A (p.Ala718Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.12992863C>ACA498009576ELAC2c.2436G>T (p.Arg812=)
c.2379G>T (p.Arg793=)
c.2316G>T (p.Arg772=)
n.2323G>T
n.2265G>T
n.3266G>T
n.1982G>T
c.1835G>T
c.2433G>T (p.Arg811=)
c.2595G>T (p.Arg865=)
c.2517G>T (p.Arg839=)
c.2514G>T (p.Arg838=)
c.2511G>T (p.Arg837=)
c.2475G>T (p.Arg825=)
c.2394G>T (p.Arg798=)
c.2313G>T (p.Arg771=)
c.2232G>T (p.Arg744=)
c.2229G>T (p.Arg743=)
c.2154G>T (p.Arg718=)
c.2151G>T (p.Arg717=)
17g.12992863C=CA2248421381ELAC2c.2436G= (p.Arg812=)
c.2379G= (p.Arg793=)
c.2316G= (p.Arg772=)
n.2323G=
n.2265G=
n.3266G=
n.1982G=
c.1835G=
c.2433G= (p.Arg811=)
c.2595G= (p.Arg865=)
c.2517G= (p.Arg839=)
c.2514G= (p.Arg838=)
c.2511G= (p.Arg837=)
c.2475G= (p.Arg825=)
c.2394G= (p.Arg798=)
c.2313G= (p.Arg771=)
c.2232G= (p.Arg744=)
c.2229G= (p.Arg743=)
c.2154G= (p.Arg718=)
c.2151G= (p.Arg717=)
17g.12992863C>GCA498009577ELAC2c.2436G>C (p.Arg812=)
c.2379G>C (p.Arg793=)
c.2316G>C (p.Arg772=)
n.2323G>C
n.2265G>C
n.3266G>C
n.1982G>C
c.1835G>C
c.2433G>C (p.Arg811=)
c.2595G>C (p.Arg865=)
c.2517G>C (p.Arg839=)
c.2514G>C (p.Arg838=)
c.2511G>C (p.Arg837=)
c.2475G>C (p.Arg825=)
c.2394G>C (p.Arg798=)
c.2313G>C (p.Arg771=)
c.2232G>C (p.Arg744=)
c.2229G>C (p.Arg743=)
c.2154G>C (p.Arg718=)
c.2151G>C (p.Arg717=)
17g.12992863C>TCA498009578ELAC2c.2436G>A (p.Arg812=)
c.2379G>A (p.Arg793=)
c.2316G>A (p.Arg772=)
n.2323G>A
n.2265G>A
n.3266G>A
n.1982G>A
c.1835G>A
c.2433G>A (p.Arg811=)
c.2595G>A (p.Arg865=)
c.2517G>A (p.Arg839=)
c.2514G>A (p.Arg838=)
c.2511G>A (p.Arg837=)
c.2475G>A (p.Arg825=)
c.2394G>A (p.Arg798=)
c.2313G>A (p.Arg771=)
c.2232G>A (p.Arg744=)
c.2229G>A (p.Arg743=)
c.2154G>A (p.Arg718=)
c.2151G>A (p.Arg717=)
 dbSNP gnomAD v2 gnomAD v4
17g.12992864C>ACA8400794ELAC2c.2435G>T (p.Arg812Leu)
c.2378G>T (p.Arg793Leu)
c.2315G>T (p.Arg772Leu)
n.2322G>T
n.2264G>T
n.3265G>T
n.1981G>T
c.1834G>T
c.2432G>T (p.Arg811Leu)
c.2594G>T (p.Arg865Leu)
c.2516G>T (p.Arg839Leu)
c.2513G>T (p.Arg838Leu)
c.2510G>T (p.Arg837Leu)
c.2474G>T (p.Arg825Leu)
c.2393G>T (p.Arg798Leu)
c.2312G>T (p.Arg771Leu)
c.2231G>T (p.Arg744Leu)
c.2228G>T (p.Arg743Leu)
c.2153G>T (p.Arg718Leu)
c.2150G>T (p.Arg717Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.12992864C=CA2248421384ELAC2c.2435G= (p.Arg812=)
c.2378G= (p.Arg793=)
c.2315G= (p.Arg772=)
n.2322G=
n.2264G=
n.3265G=
n.1981G=
c.1834G=
c.2432G= (p.Arg811=)
c.2594G= (p.Arg865=)
c.2516G= (p.Arg839=)
c.2513G= (p.Arg838=)
c.2510G= (p.Arg837=)
c.2474G= (p.Arg825=)
c.2393G= (p.Arg798=)
c.2312G= (p.Arg771=)
c.2231G= (p.Arg744=)
c.2228G= (p.Arg743=)
c.2153G= (p.Arg718=)
c.2150G= (p.Arg717=)
17g.12992864C>GCA398222090ELAC2c.2435G>C (p.Arg812Pro)
c.2378G>C (p.Arg793Pro)
c.2315G>C (p.Arg772Pro)
n.2322G>C
n.2264G>C
n.3265G>C
n.1981G>C
c.1834G>C
c.2432G>C (p.Arg811Pro)
c.2594G>C (p.Arg865Pro)
c.2516G>C (p.Arg839Pro)
c.2513G>C (p.Arg838Pro)
c.2510G>C (p.Arg837Pro)
c.2474G>C (p.Arg825Pro)
c.2393G>C (p.Arg798Pro)
c.2312G>C (p.Arg771Pro)
c.2231G>C (p.Arg744Pro)
c.2228G>C (p.Arg743Pro)
c.2153G>C (p.Arg718Pro)
c.2150G>C (p.Arg717Pro)
 gnomAD v4
17g.12992864C>TCA398222089ELAC2c.2435G>A (p.Arg812Gln)
c.2378G>A (p.Arg793Gln)
c.2315G>A (p.Arg772Gln)
n.2322G>A
n.2264G>A
n.3265G>A
n.1981G>A
c.1834G>A
c.2432G>A (p.Arg811Gln)
c.2594G>A (p.Arg865Gln)
c.2516G>A (p.Arg839Gln)
c.2513G>A (p.Arg838Gln)
c.2510G>A (p.Arg837Gln)
c.2474G>A (p.Arg825Gln)
c.2393G>A (p.Arg798Gln)
c.2312G>A (p.Arg771Gln)
c.2231G>A (p.Arg744Gln)
c.2228G>A (p.Arg743Gln)
c.2153G>A (p.Arg718Gln)
c.2150G>A (p.Arg717Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.12992865G>ACA8400795ELAC2c.2434C>T (p.Arg812Trp)
c.2377C>T (p.Arg793Trp)
c.2314C>T (p.Arg772Trp)
n.2321C>T
n.2263C>T
n.3264C>T
n.1980C>T
c.1833C>T
c.2431C>T (p.Arg811Trp)
c.2593C>T (p.Arg865Trp)
c.2515C>T (p.Arg839Trp)
c.2512C>T (p.Arg838Trp)
c.2509C>T (p.Arg837Trp)
c.2473C>T (p.Arg825Trp)
c.2392C>T (p.Arg798Trp)
c.2311C>T (p.Arg771Trp)
c.2230C>T (p.Arg744Trp)
c.2227C>T (p.Arg743Trp)
c.2152C>T (p.Arg718Trp)
c.2149C>T (p.Arg717Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.12992865G>CCA398222091ELAC2c.2434C>G (p.Arg812Gly)
c.2377C>G (p.Arg793Gly)
c.2314C>G (p.Arg772Gly)
n.2321C>G
n.2263C>G
n.3264C>G
n.1980C>G
c.1833C>G
c.2431C>G (p.Arg811Gly)
c.2593C>G (p.Arg865Gly)
c.2515C>G (p.Arg839Gly)
c.2512C>G (p.Arg838Gly)
c.2509C>G (p.Arg837Gly)
c.2473C>G (p.Arg825Gly)
c.2392C>G (p.Arg798Gly)
c.2311C>G (p.Arg771Gly)
c.2230C>G (p.Arg744Gly)
c.2227C>G (p.Arg743Gly)
c.2152C>G (p.Arg718Gly)
c.2149C>G (p.Arg717Gly)
17g.12992865G=CA2248421388ELAC2c.2434C= (p.Arg812=)
c.2377C= (p.Arg793=)
c.2314C= (p.Arg772=)
n.2321C=
n.2263C=
n.3264C=
n.1980C=
c.1833C=
c.2431C= (p.Arg811=)
c.2593C= (p.Arg865=)
c.2515C= (p.Arg839=)
c.2512C= (p.Arg838=)
c.2509C= (p.Arg837=)
c.2473C= (p.Arg825=)
c.2392C= (p.Arg798=)
c.2311C= (p.Arg771=)
c.2230C= (p.Arg744=)
c.2227C= (p.Arg743=)
c.2152C= (p.Arg718=)
c.2149C= (p.Arg717=)
17g.12992865G>TCA498009579ELAC2c.2434C>A (p.Arg812=)
c.2377C>A (p.Arg793=)
c.2314C>A (p.Arg772=)
n.2321C>A
n.2263C>A
n.3264C>A
n.1980C>A
c.1833C>A
c.2431C>A (p.Arg811=)
c.2593C>A (p.Arg865=)
c.2515C>A (p.Arg839=)
c.2512C>A (p.Arg838=)
c.2509C>A (p.Arg837=)
c.2473C>A (p.Arg825=)
c.2392C>A (p.Arg798=)
c.2311C>A (p.Arg771=)
c.2230C>A (p.Arg744=)
c.2227C>A (p.Arg743=)
c.2152C>A (p.Arg718=)
c.2149C>A (p.Arg717=)
17g.12992866C>ACA398222092ELAC2c.2433G>T (p.Lys811Asn)
c.2376G>T (p.Lys792Asn)
c.2313G>T (p.Lys771Asn)
n.2320G>T
n.2262G>T
n.3263G>T
n.1979G>T
c.1832G>T
c.2430G>T (p.Lys810Asn)
c.2592G>T (p.Lys864Asn)
c.2514G>T (p.Lys838Asn)
c.2511G>T (p.Lys837Asn)
c.2508G>T (p.Lys836Asn)
c.2472G>T (p.Lys824Asn)
c.2391G>T (p.Lys797Asn)
c.2310G>T (p.Lys770Asn)
c.2229G>T (p.Lys743Asn)
c.2226G>T (p.Lys742Asn)
c.2151G>T (p.Lys717Asn)
c.2148G>T (p.Lys716Asn)
17g.12992866C>GCA398222093ELAC2c.2433G>C (p.Lys811Asn)
c.2376G>C (p.Lys792Asn)
c.2313G>C (p.Lys771Asn)
n.2320G>C
n.2262G>C
n.3263G>C
n.1979G>C
c.1832G>C
c.2430G>C (p.Lys810Asn)
c.2592G>C (p.Lys864Asn)
c.2514G>C (p.Lys838Asn)
c.2511G>C (p.Lys837Asn)
c.2508G>C (p.Lys836Asn)
c.2472G>C (p.Lys824Asn)
c.2391G>C (p.Lys797Asn)
c.2310G>C (p.Lys770Asn)
c.2229G>C (p.Lys743Asn)
c.2226G>C (p.Lys742Asn)
c.2151G>C (p.Lys717Asn)
c.2148G>C (p.Lys716Asn)
17g.12992866C>TCA498009580ELAC2c.2433G>A (p.Lys811=)
c.2376G>A (p.Lys792=)
c.2313G>A (p.Lys771=)
n.2320G>A
n.2262G>A
n.3263G>A
n.1979G>A
c.1832G>A
c.2430G>A (p.Lys810=)
c.2592G>A (p.Lys864=)
c.2514G>A (p.Lys838=)
c.2511G>A (p.Lys837=)
c.2508G>A (p.Lys836=)
c.2472G>A (p.Lys824=)
c.2391G>A (p.Lys797=)
c.2310G>A (p.Lys770=)
c.2229G>A (p.Lys743=)
c.2226G>A (p.Lys742=)
c.2151G>A (p.Lys717=)
c.2148G>A (p.Lys716=)
 dbSNP
17g.12992867T>ACA398222094ELAC2c.2432A>T (p.Lys811Met)
c.2375A>T (p.Lys792Met)
c.2312A>T (p.Lys771Met)
n.2319A>T
n.2261A>T
n.3262A>T
n.1978A>T
c.1831A>T
c.2429A>T (p.Lys810Met)
c.2591A>T (p.Lys864Met)
c.2513A>T (p.Lys838Met)
c.2510A>T (p.Lys837Met)
c.2507A>T (p.Lys836Met)
c.2471A>T (p.Lys824Met)
c.2390A>T (p.Lys797Met)
c.2309A>T (p.Lys770Met)
c.2228A>T (p.Lys743Met)
c.2225A>T (p.Lys742Met)
c.2150A>T (p.Lys717Met)
c.2147A>T (p.Lys716Met)
17g.12992867T>CCA398222095ELAC2c.2432A>G (p.Lys811Arg)
c.2375A>G (p.Lys792Arg)
c.2312A>G (p.Lys771Arg)
n.2319A>G
n.2261A>G
n.3262A>G
n.1978A>G
c.1831A>G
c.2429A>G (p.Lys810Arg)
c.2591A>G (p.Lys864Arg)
c.2513A>G (p.Lys838Arg)
c.2510A>G (p.Lys837Arg)
c.2507A>G (p.Lys836Arg)
c.2471A>G (p.Lys824Arg)
c.2390A>G (p.Lys797Arg)
c.2309A>G (p.Lys770Arg)
c.2228A>G (p.Lys743Arg)
c.2225A>G (p.Lys742Arg)
c.2150A>G (p.Lys717Arg)
c.2147A>G (p.Lys716Arg)
17g.12992867T>GCA398222096ELAC2c.2432A>C (p.Lys811Thr)
c.2375A>C (p.Lys792Thr)
c.2312A>C (p.Lys771Thr)
n.2319A>C
n.2261A>C
n.3262A>C
n.1978A>C
c.1831A>C
c.2429A>C (p.Lys810Thr)
c.2591A>C (p.Lys864Thr)
c.2513A>C (p.Lys838Thr)
c.2510A>C (p.Lys837Thr)
c.2507A>C (p.Lys836Thr)
c.2471A>C (p.Lys824Thr)
c.2390A>C (p.Lys797Thr)
c.2309A>C (p.Lys770Thr)
c.2228A>C (p.Lys743Thr)
c.2225A>C (p.Lys742Thr)
c.2150A>C (p.Lys717Thr)
c.2147A>C (p.Lys716Thr)
17g.12992868T>ACA398222097ELAC2c.2431A>T (p.Lys811Ter)
c.2374A>T (p.Lys792Ter)
c.2311A>T (p.Lys771Ter)
n.2318A>T
n.2260A>T
n.3261A>T
n.1977A>T
c.1830A>T
c.2428A>T (p.Lys810Ter)
c.2590A>T (p.Lys864Ter)
c.2512A>T (p.Lys838Ter)
c.2509A>T (p.Lys837Ter)
c.2506A>T (p.Lys836Ter)
c.2470A>T (p.Lys824Ter)
c.2389A>T (p.Lys797Ter)
c.2308A>T (p.Lys770Ter)
c.2227A>T (p.Lys743Ter)
c.2224A>T (p.Lys742Ter)
c.2149A>T (p.Lys717Ter)
c.2146A>T (p.Lys716Ter)
17g.12992868T>CCA8400796ELAC2c.2431A>G (p.Lys811Glu)
c.2374A>G (p.Lys792Glu)
c.2311A>G (p.Lys771Glu)
n.2318A>G
n.2260A>G
n.3261A>G
n.1977A>G
c.1830A>G
c.2428A>G (p.Lys810Glu)
c.2590A>G (p.Lys864Glu)
c.2512A>G (p.Lys838Glu)
c.2509A>G (p.Lys837Glu)
c.2506A>G (p.Lys836Glu)
c.2470A>G (p.Lys824Glu)
c.2389A>G (p.Lys797Glu)
c.2308A>G (p.Lys770Glu)
c.2227A>G (p.Lys743Glu)
c.2224A>G (p.Lys742Glu)
c.2149A>G (p.Lys717Glu)
c.2146A>G (p.Lys716Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.12992868T>GCA398222098ELAC2c.2431A>C (p.Lys811Gln)
c.2374A>C (p.Lys792Gln)
c.2311A>C (p.Lys771Gln)
n.2318A>C
n.2260A>C
n.3261A>C
n.1977A>C
c.1830A>C
c.2428A>C (p.Lys810Gln)
c.2590A>C (p.Lys864Gln)
c.2512A>C (p.Lys838Gln)
c.2509A>C (p.Lys837Gln)
c.2506A>C (p.Lys836Gln)
c.2470A>C (p.Lys824Gln)
c.2389A>C (p.Lys797Gln)
c.2308A>C (p.Lys770Gln)
c.2227A>C (p.Lys743Gln)
c.2224A>C (p.Lys742Gln)
c.2149A>C (p.Lys717Gln)
c.2146A>C (p.Lys716Gln)
17g.12992868T=CA2248421391ELAC2c.2431A= (p.Lys811=)
c.2374A= (p.Lys792=)
c.2311A= (p.Lys771=)
n.2318A=
n.2260A=
n.3261A=
n.1977A=
c.1830A=
c.2428A= (p.Lys810=)
c.2590A= (p.Lys864=)
c.2512A= (p.Lys838=)
c.2509A= (p.Lys837=)
c.2506A= (p.Lys836=)
c.2470A= (p.Lys824=)
c.2389A= (p.Lys797=)
c.2308A= (p.Lys770=)
c.2227A= (p.Lys743=)
c.2224A= (p.Lys742=)
c.2149A= (p.Lys717=)
c.2146A= (p.Lys716=)
17g.12992869C>ACA398222099ELAC2c.2430G>T (p.Gln810His)
c.2373G>T (p.Gln791His)
c.2310G>T (p.Gln770His)
n.2317G>T
n.2259G>T
n.3260G>T
n.1976G>T
c.1829G>T
c.2427G>T (p.Gln809His)
c.2589G>T (p.Gln863His)
c.2511G>T (p.Gln837His)
c.2508G>T (p.Gln836His)
c.2505G>T (p.Gln835His)
c.2469G>T (p.Gln823His)
c.2388G>T (p.Gln796His)
c.2307G>T (p.Gln769His)
c.2226G>T (p.Gln742His)
c.2223G>T (p.Gln741His)
c.2148G>T (p.Gln716His)
c.2145G>T (p.Gln715His)
17g.12992869C>GCA398222100ELAC2c.2430G>C (p.Gln810His)
c.2373G>C (p.Gln791His)
c.2310G>C (p.Gln770His)
n.2317G>C
n.2259G>C
n.3260G>C
n.1976G>C
c.1829G>C
c.2427G>C (p.Gln809His)
c.2589G>C (p.Gln863His)
c.2511G>C (p.Gln837His)
c.2508G>C (p.Gln836His)
c.2505G>C (p.Gln835His)
c.2469G>C (p.Gln823His)
c.2388G>C (p.Gln796His)
c.2307G>C (p.Gln769His)
c.2226G>C (p.Gln742His)
c.2223G>C (p.Gln741His)
c.2148G>C (p.Gln716His)
c.2145G>C (p.Gln715His)
 gnomAD v4
17g.12992869C>TCA498009581ELAC2c.2430G>A (p.Gln810=)
c.2373G>A (p.Gln791=)
c.2310G>A (p.Gln770=)
n.2317G>A
n.2259G>A
n.3260G>A
n.1976G>A
c.1829G>A
c.2427G>A (p.Gln809=)
c.2589G>A (p.Gln863=)
c.2511G>A (p.Gln837=)
c.2508G>A (p.Gln836=)
c.2505G>A (p.Gln835=)
c.2469G>A (p.Gln823=)
c.2388G>A (p.Gln796=)
c.2307G>A (p.Gln769=)
c.2226G>A (p.Gln742=)
c.2223G>A (p.Gln741=)
c.2148G>A (p.Gln716=)
c.2145G>A (p.Gln715=)
17g.12992870T>ACA398222102ELAC2c.2429A>T (p.Gln810Leu)
c.2372A>T (p.Gln791Leu)
c.2309A>T (p.Gln770Leu)
n.2316A>T
n.2258A>T
n.3259A>T
n.1975A>T
c.1828A>T
c.2426A>T (p.Gln809Leu)
c.2588A>T (p.Gln863Leu)
c.2510A>T (p.Gln837Leu)
c.2507A>T (p.Gln836Leu)
c.2504A>T (p.Gln835Leu)
c.2468A>T (p.Gln823Leu)
c.2387A>T (p.Gln796Leu)
c.2306A>T (p.Gln769Leu)
c.2225A>T (p.Gln742Leu)
c.2222A>T (p.Gln741Leu)
c.2147A>T (p.Gln716Leu)
c.2144A>T (p.Gln715Leu)
17g.12992870T>CCA398222103ELAC2c.2429A>G (p.Gln810Arg)
c.2372A>G (p.Gln791Arg)
c.2309A>G (p.Gln770Arg)
n.2316A>G
n.2258A>G
n.3259A>G
n.1975A>G
c.1828A>G
c.2426A>G (p.Gln809Arg)
c.2588A>G (p.Gln863Arg)
c.2510A>G (p.Gln837Arg)
c.2507A>G (p.Gln836Arg)
c.2504A>G (p.Gln835Arg)
c.2468A>G (p.Gln823Arg)
c.2387A>G (p.Gln796Arg)
c.2306A>G (p.Gln769Arg)
c.2225A>G (p.Gln742Arg)
c.2222A>G (p.Gln741Arg)
c.2147A>G (p.Gln716Arg)
c.2144A>G (p.Gln715Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.12992870T>GCA398222101ELAC2c.2429A>C (p.Gln810Pro)
c.2372A>C (p.Gln791Pro)
c.2309A>C (p.Gln770Pro)
n.2316A>C
n.2258A>C
n.3259A>C
n.1975A>C
c.1828A>C
c.2426A>C (p.Gln809Pro)
c.2588A>C (p.Gln863Pro)
c.2510A>C (p.Gln837Pro)
c.2507A>C (p.Gln836Pro)
c.2504A>C (p.Gln835Pro)
c.2468A>C (p.Gln823Pro)
c.2387A>C (p.Gln796Pro)
c.2306A>C (p.Gln769Pro)
c.2225A>C (p.Gln742Pro)
c.2222A>C (p.Gln741Pro)
c.2147A>C (p.Gln716Pro)
c.2144A>C (p.Gln715Pro)
17g.12992870T=CA2248421394ELAC2c.2429A= (p.Gln810=)
c.2372A= (p.Gln791=)
c.2309A= (p.Gln770=)
n.2316A=
n.2258A=
n.3259A=
n.1975A=
c.1828A=
c.2426A= (p.Gln809=)
c.2588A= (p.Gln863=)
c.2510A= (p.Gln837=)
c.2507A= (p.Gln836=)
c.2504A= (p.Gln835=)
c.2468A= (p.Gln823=)
c.2387A= (p.Gln796=)
c.2306A= (p.Gln769=)
c.2225A= (p.Gln742=)
c.2222A= (p.Gln741=)
c.2147A= (p.Gln716=)
c.2144A= (p.Gln715=)
17g.12992871G>ACA398222105ELAC2c.2428C>T (p.Gln810Ter)
c.2371C>T (p.Gln791Ter)
c.2308C>T (p.Gln770Ter)
n.2315C>T
n.2257C>T
n.3258C>T
n.1974C>T
c.1827C>T
c.2425C>T (p.Gln809Ter)
c.2587C>T (p.Gln863Ter)
c.2509C>T (p.Gln837Ter)
c.2506C>T (p.Gln836Ter)
c.2503C>T (p.Gln835Ter)
c.2467C>T (p.Gln823Ter)
c.2386C>T (p.Gln796Ter)
c.2305C>T (p.Gln769Ter)
c.2224C>T (p.Gln742Ter)
c.2221C>T (p.Gln741Ter)
c.2146C>T (p.Gln716Ter)
c.2143C>T (p.Gln715Ter)
 dbSNP COSMIC
17g.12992871G>CCA398222104ELAC2c.2428C>G (p.Gln810Glu)
c.2371C>G (p.Gln791Glu)
c.2308C>G (p.Gln770Glu)
n.2315C>G
n.2257C>G
n.3258C>G
n.1974C>G
c.1827C>G
c.2425C>G (p.Gln809Glu)
c.2587C>G (p.Gln863Glu)
c.2509C>G (p.Gln837Glu)
c.2506C>G (p.Gln836Glu)
c.2503C>G (p.Gln835Glu)
c.2467C>G (p.Gln823Glu)
c.2386C>G (p.Gln796Glu)
c.2305C>G (p.Gln769Glu)
c.2224C>G (p.Gln742Glu)
c.2221C>G (p.Gln741Glu)
c.2146C>G (p.Gln716Glu)
c.2143C>G (p.Gln715Glu)
17g.12992871G>TCA398222106ELAC2c.2428C>A (p.Gln810Lys)
c.2371C>A (p.Gln791Lys)
c.2308C>A (p.Gln770Lys)
n.2315C>A
n.2257C>A
n.3258C>A
n.1974C>A
c.1827C>A
c.2425C>A (p.Gln809Lys)
c.2587C>A (p.Gln863Lys)
c.2509C>A (p.Gln837Lys)
c.2506C>A (p.Gln836Lys)
c.2503C>A (p.Gln835Lys)
c.2467C>A (p.Gln823Lys)
c.2386C>A (p.Gln796Lys)
c.2305C>A (p.Gln769Lys)
c.2224C>A (p.Gln742Lys)
c.2221C>A (p.Gln741Lys)
c.2146C>A (p.Gln716Lys)
c.2143C>A (p.Gln715Lys)
17g.12992872C>ACA398222107ELAC2c.2427G>T (p.Gln809His)
c.2370G>T (p.Gln790His)
c.2307G>T (p.Gln769His)
n.2314G>T
n.2256G>T
n.3257G>T
n.1973G>T
c.1826G>T
c.2424G>T (p.Gln808His)
c.2586G>T (p.Gln862His)
c.2508G>T (p.Gln836His)
c.2505G>T (p.Gln835His)
c.2502G>T (p.Gln834His)
c.2466G>T (p.Gln822His)
c.2385G>T (p.Gln795His)
c.2304G>T (p.Gln768His)
c.2223G>T (p.Gln741His)
c.2220G>T (p.Gln740His)
c.2145G>T (p.Gln715His)
c.2142G>T (p.Gln714His)
17g.12992872C=CA2248421398ELAC2c.2427G= (p.Gln809=)
c.2370G= (p.Gln790=)
c.2307G= (p.Gln769=)
n.2314G=
n.2256G=
n.3257G=
n.1973G=
c.1826G=
c.2424G= (p.Gln808=)
c.2586G= (p.Gln862=)
c.2508G= (p.Gln836=)
c.2505G= (p.Gln835=)
c.2502G= (p.Gln834=)
c.2466G= (p.Gln822=)
c.2385G= (p.Gln795=)
c.2304G= (p.Gln768=)
c.2223G= (p.Gln741=)
c.2220G= (p.Gln740=)
c.2145G= (p.Gln715=)
c.2142G= (p.Gln714=)
17g.12992872C>GCA398222108ELAC2c.2427G>C (p.Gln809His)
c.2370G>C (p.Gln790His)
c.2307G>C (p.Gln769His)
n.2314G>C
n.2256G>C
n.3257G>C
n.1973G>C
c.1826G>C
c.2424G>C (p.Gln808His)
c.2586G>C (p.Gln862His)
c.2508G>C (p.Gln836His)
c.2505G>C (p.Gln835His)
c.2502G>C (p.Gln834His)
c.2466G>C (p.Gln822His)
c.2385G>C (p.Gln795His)
c.2304G>C (p.Gln768His)
c.2223G>C (p.Gln741His)
c.2220G>C (p.Gln740His)
c.2145G>C (p.Gln715His)
c.2142G>C (p.Gln714His)
17g.12992872C>TCA8400797ELAC2c.2427G>A (p.Gln809=)
c.2370G>A (p.Gln790=)
c.2307G>A (p.Gln769=)
n.2314G>A
n.2256G>A
n.3257G>A
n.1973G>A
c.1826G>A
c.2424G>A (p.Gln808=)
c.2586G>A (p.Gln862=)
c.2508G>A (p.Gln836=)
c.2505G>A (p.Gln835=)
c.2502G>A (p.Gln834=)
c.2466G>A (p.Gln822=)
c.2385G>A (p.Gln795=)
c.2304G>A (p.Gln768=)
c.2223G>A (p.Gln741=)
c.2220G>A (p.Gln740=)
c.2145G>A (p.Gln715=)
c.2142G>A (p.Gln714=)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched