Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.12992779A= | CA2248421214 | ELAC2 | c.*39T= (n.*39T=) n.2407T= n.2349T= n.3350T= n.2066T= c.1919T= | |
17 | g.12992779A>G | CA2248421215 | ELAC2 | c.*39T>C (n.*39T>C) n.2407T>C n.2349T>C n.3350T>C n.2066T>C c.1919T>C | dbSNP |
17 | g.12992780A>C | CA2636192914 | ELAC2 | c.*38T>G (n.*38T>G) n.2406T>G n.2348T>G n.3349T>G n.2065T>G c.1918T>G | gnomAD v4 |
17 | g.12992781G>A | CA624926681 | ELAC2 | c.*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 |
17 | g.12992781G= | CA2248421216 | ELAC2 | c.*37C= (n.*37C=) n.2405C= n.2347C= n.3348C= n.2064C= c.1917C= | |
17 | g.12992781G>T | CA2636192917 | ELAC2 | c.*37C>A (n.*37C>A) n.2405C>A n.2347C>A n.3348C>A n.2064C>A c.1917C>A | gnomAD v4 |
17 | g.12992782A>T | CA2636192920 | ELAC2 | c.*36T>A (n.*36T>A) n.2404T>A n.2346T>A n.3347T>A n.2063T>A c.1916T>A | gnomAD v4 |
17 | g.12992787_12992788dup | CA2808527061 | ELAC2 | c.*35_*36dup (n.*35_*36dup) n.2403_2404dup n.2345_2346dup n.3346_3347dup n.2062_2063dup c.1915_1916dup | |
17 | g.12992783C= | CA2248421218 | ELAC2 | c.*35G= (n.*35G=) n.2403G= n.2345G= n.3346G= n.2062G= c.1915G= | |
17 | g.12992783C>G | CA8400780 | ELAC2 | c.*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 |
17 | g.12992783C>T | CA8400779 | ELAC2 | c.*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 |
17 | g.12992784A>G | CA2576177850 | ELAC2 | c.*34T>C (n.*34T>C) n.2402T>C n.2344T>C n.3345T>C n.2061T>C c.1914T>C | gnomAD v4 |
17 | g.12992785C>A | CA8400781 | ELAC2 | c.*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 |
17 | g.12992785C= | CA2248421222 | ELAC2 | c.*33G= (n.*33G=) n.2401G= n.2343G= n.3344G= n.2060G= c.1913G= | |
17 | g.12992785C>G | CA2576177852 | ELAC2 | c.*33G>C (n.*33G>C) n.2401G>C n.2343G>C n.3344G>C n.2060G>C c.1913G>C | gnomAD v4 |
17 | g.12992786A= | CA2248421225 | ELAC2 | c.*32T= (n.*32T=) n.2400T= n.2342T= n.3343T= n.2059T= c.1912T= | |
17 | g.12992786A>C | CA2636192936 | ELAC2 | c.*32T>G (n.*32T>G) n.2400T>G n.2342T>G n.3343T>G n.2059T>G c.1912T>G | gnomAD v4 |
17 | g.12992786A>G | CA288074873 | ELAC2 | c.*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 |
17 | g.12992787C= | CA2248421228 | ELAC2 | c.*31G= (n.*31G=) n.2399G= n.2341G= n.3342G= n.2058G= c.1911G= | |
17 | g.12992787C>T | CA8400782 | ELAC2 | c.*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 |
17 | g.12992788A>T | CA2636192938 | ELAC2 | c.*30T>A (n.*30T>A) n.2398T>A n.2340T>A n.3341T>A n.2057T>A c.1910T>A | gnomAD v4 |
17 | g.12992789G>C | CA624926690 | ELAC2 | c.*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 |
17 | g.12992789G= | CA2248421233 | ELAC2 | c.*29C= (n.*29C=) n.2397C= n.2339C= n.3340C= n.2056C= c.1909C= | |
17 | g.12992789G>T | CA2840256611 | ELAC2 | c.*29C>A (n.*29C>A) n.2397C>A n.2339C>A n.3340C>A n.2056C>A c.1909C>A | |
17 | g.12992790C>A | CA2840256612 | ELAC2 | c.*28G>T (n.*28G>T) n.2396G>T n.2338G>T n.3339G>T n.2055G>T c.1908G>T | |
17 | g.12992791C= | CA2248421235 | ELAC2 | c.*27G= (n.*27G=) n.2395G= n.2337G= n.3338G= n.2054G= c.1907G= | |
17 | g.12992791C>T | CA2248421236 | ELAC2 | c.*27G>A (n.*27G>A) n.2395G>A n.2337G>A n.3338G>A n.2054G>A c.1907G>A | dbSNP |
17 | g.12992793_12992795del | CA2636192941 | ELAC2 | c.*25_*27del (n.*25_*27del) n.2393_2395del n.2335_2337del n.3336_3338del n.2052_2054del c.1905_1907del | gnomAD v4 |
17 | g.12992792T>A | CA2840256613 | ELAC2 | c.*26A>T (n.*26A>T) n.2394A>T n.2336A>T n.3337A>T n.2053A>T c.1906A>T | |
17 | g.12992796G>A | CA981619982 | ELAC2 | c.*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 |
17 | g.12992796G= | CA2248421238 | ELAC2 | c.*22C= (n.*22C=) n.2390C= n.2332C= n.3333C= n.2049C= c.1902C= | |
17 | g.12992797A= | CA2248421239 | ELAC2 | c.*21T= (n.*21T=) n.2389T= n.2331T= n.3332T= n.2048T= c.1901T= | |
17 | g.12992797A>C | CA624926692 | ELAC2 | c.*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 |
17 | g.12992797A>G | CA2636192949 | ELAC2 | c.*21T>C (n.*21T>C) n.2389T>C n.2331T>C n.3332T>C n.2048T>C c.1901T>C | gnomAD v4 |
17 | g.12992798G>A | CA2636192951 | ELAC2 | c.*20C>T (n.*20C>T) n.2388C>T n.2330C>T n.3331C>T n.2047C>T c.1900C>T | dbSNP gnomAD v4 |
17 | g.12992799T>A | CA288074876 | ELAC2 | c.*19A>T (n.*19A>T) n.2387A>T n.2329A>T n.3330A>T n.2046A>T c.1899A>T | dbSNP |
17 | g.12992799T= | CA2248421242 | ELAC2 | c.*19A= (n.*19A=) n.2387A= n.2329A= n.3330A= n.2046A= c.1899A= | |
17 | g.12992800T>C | CA2248421244 | ELAC2 | c.*18A>G (n.*18A>G) n.2386A>G n.2328A>G n.3329A>G n.2045A>G c.1898A>G | dbSNP |
17 | g.12992800T= | CA2248421243 | ELAC2 | c.*18A= (n.*18A=) n.2386A= n.2328A= n.3329A= n.2045A= c.1898A= | |
17 | g.12992801C= | CA2248421246 | ELAC2 | c.*17G= (n.*17G=) n.2385G= n.2327G= n.3328G= n.2044G= c.1897G= | |
17 | g.12992801C>G | CA8400783 | ELAC2 | c.*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 |
17 | g.12992802A= | CA2248421250 | ELAC2 | c.*16T= (n.*16T=) n.2384T= n.2326T= n.3327T= n.2043T= c.1896T= | |
17 | g.12992802A>G | CA288074877 | ELAC2 | c.*16T>C (n.*16T>C) n.2384T>C n.2326T>C n.3327T>C n.2043T>C c.1896T>C | dbSNP gnomAD v2 |
17 | g.12992803G>C | CA2636192955 | ELAC2 | c.*15C>G (n.*15C>G) n.2383C>G n.2325C>G n.3326C>G n.2042C>G c.1895C>G | gnomAD v4 |
17 | g.12992804G>A | CA624926696 | ELAC2 | c.*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 |
17 | g.12992804G= | CA2248421253 | ELAC2 | c.*14C= (n.*14C=) n.2382C= n.2324C= n.3325C= n.2041C= c.1894C= | |
17 | g.12992804G>T | CA2636192957 | ELAC2 | c.*14C>A (n.*14C>A) n.2382C>A n.2324C>A n.3325C>A n.2041C>A c.1894C>A | gnomAD v4 |
17 | g.12992805G>A | CA8400784 | ELAC2 | c.*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 |
17 | g.12992805G= | CA2248421257 | ELAC2 | c.*13C= (n.*13C=) n.2381C= n.2323C= n.3324C= n.2040C= c.1893C= | |
17 | g.12992805G>T | CA2840256614 | ELAC2 | c.*13C>A (n.*13C>A) n.2381C>A n.2323C>A n.3324C>A n.2040C>A c.1893C>A | |
17 | g.12992807C>G | CA498009547 | ELAC2 | c.*11G>C (n.*11G>C) n.2379G>C n.2321G>C n.3322G>C n.2038G>C c.1891G>C | |
17 | g.12992809C= | CA2248421259 | ELAC2 | c.*9G= (n.*9G=) n.2377G= n.2319G= n.3320G= n.2036G= c.1889G= | |
17 | g.12992809C>T | CA8400785 | ELAC2 | c.*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 |
17 | g.12992810_12992811del | CA2840256615 | ELAC2 | c.*8_*9del (n.*8_*9del) n.2376_2377del n.2318_2319del n.3319_3320del n.2035_2036del c.1888_1889del | |
17 | g.12992810C= | CA2248421263 | ELAC2 | c.*8G= (n.*8G=) n.2376G= n.2318G= n.3319G= n.2035G= c.1888G= | |
17 | g.12992810C>T | CA624926699 | ELAC2 | c.*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 |
17 | g.12992811C>T | CA2636192963 | ELAC2 | c.*7G>A (n.*7G>A) n.2375G>A n.2317G>A n.3318G>A n.2034G>A c.1887G>A | gnomAD v4 |
17 | g.12992812A= | CA2248421264 | ELAC2 | c.*6T= (n.*6T=) n.2374T= n.2316T= n.3317T= n.2033T= c.1886T= | |
17 | g.12992813G>T | CA2839710227 | ELAC2 | c.*5C>A (n.*5C>A) n.2373C>A n.2315C>A n.3316C>A n.2032C>A c.1885C>A | |
17 | g.12992813_12992815dup | CA624926702 | ELAC2 | c.*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 |
17 | g.12992814A= | CA2248421270 | ELAC2 | c.*4T= (n.*4T=) n.2372T= n.2314T= n.3315T= n.2031T= c.1884T= | |
17 | g.12992814A>G | CA8400786 | ELAC2 | c.*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 |
17 | g.12992816C= | CA2248421274 | ELAC2 | c.*2G= (n.*2G=) n.2370G= n.2312G= n.3313G= n.2029G= c.1882G= | |
17 | g.12992816C>T | CA288074887 | ELAC2 | c.*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 |
17 | g.12992817T>A | CA288074889 | ELAC2 | c.*1A>T (n.*1A>T) n.2369A>T n.2311A>T n.3312A>T n.2028A>T c.1881A>T | dbSNP |
17 | g.12992817T>C | CA2636192977 | ELAC2 | c.*1A>G (n.*1A>G) n.2369A>G n.2311A>G n.3312A>G n.2028A>G c.1881A>G | gnomAD v4 |
17 | g.12992817T= | CA2248421276 | ELAC2 | c.*1A= (n.*1A=) n.2369A= n.2311A= n.3312A= n.2028A= c.1881A= | |
17 | g.12992818T>A | CA398221989 | ELAC2 | c.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) | |
17 | g.12992818T>C | CA288074902 | ELAC2 | c.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 |
17 | g.12992818T>G | CA398221990 | ELAC2 | c.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) | |
17 | g.12992818T= | CA2248421280 | ELAC2 | c.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=) | |
17 | g.12992819C>A | CA398221991 | ELAC2 | c.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) | |
17 | g.12992819C= | CA2248421284 | ELAC2 | c.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=) | |
17 | g.12992819C>G | CA398221992 | ELAC2 | c.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) | |
17 | g.12992819C>T | CA288074904 | ELAC2 | c.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 |
17 | g.12992820A>C | CA398221993 | ELAC2 | c.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) | |
17 | g.12992820A>G | CA398221995 | ELAC2 | c.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) | |
17 | g.12992820A>T | CA398221994 | ELAC2 | c.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) | |
17 | g.12992821C>A | CA398221996 | ELAC2 | c.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) | |
17 | g.12992821C>G | CA398221997 | ELAC2 | c.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) | |
17 | g.12992821C>T | CA498009550 | ELAC2 | c.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=) | |
17 | g.12992822T>A | CA398221998 | ELAC2 | c.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) | |
17 | g.12992822T>C | CA398221999 | ELAC2 | c.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 |
17 | g.12992822T>G | CA398222000 | ELAC2 | c.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 |
17 | g.12992825_12992840del | CA645591207 | ELAC2 | c.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 |
17 | g.12992823G>A | CA398222001 | ELAC2 | c.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 |
17 | g.12992823G>C | CA398222002 | ELAC2 | c.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) | |
17 | g.12992823G>T | CA398222003 | ELAC2 | c.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) | |
17 | g.12992824G>A | CA498009551 | ELAC2 | c.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=) | |
17 | g.12992824G>C | CA498009552 | ELAC2 | c.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=) | |
17 | g.12992824G>T | CA498009553 | ELAC2 | c.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=) | |
17 | g.12992824_12992838delinsGGCTCTGACCTTCTT | CA2248421286 | ELAC2 | c.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=) | |
17 | g.12992825G>A | CA398222004 | ELAC2 | c.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 |
17 | g.12992825G>C | CA398222005 | ELAC2 | c.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) | |
17 | g.12992825G= | CA2248421289 | ELAC2 | c.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=) | |
17 | g.12992825G>T | CA398222006 | ELAC2 | c.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) | |
17 | g.12992826_12992839del | CA624926705 | ELAC2 | c.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 |
17 | g.12992826C>A | CA398222009 | ELAC2 | c.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) | |
17 | g.12992826C>G | CA398222007 | ELAC2 | c.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) | |
17 | g.12992826C>T | CA398222008 | ELAC2 | c.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) | |
17 | g.12992828_12992829del | CA2580612852 | ELAC2 | c.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 |
17 | g.12992827T>A | CA398222010 | ELAC2 | c.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) | |
17 | g.12992827T>C | CA498009554 | ELAC2 | c.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=) | |
17 | g.12992827T>G | CA398222011 | ELAC2 | c.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 |
17 | g.12992827T= | CA2248421293 | ELAC2 | c.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=) | |
17 | g.12992828C>A | CA398222012 | ELAC2 | c.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 |
17 | g.12992828C= | CA2248421295 | ELAC2 | c.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=) | |
17 | g.12992828C>G | CA398222013 | ELAC2 | c.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) | |
17 | g.12992828C>T | CA398222014 | ELAC2 | c.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) | |
17 | g.12992829T>A | CA398222015 | ELAC2 | c.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) | |
17 | g.12992829T>C | CA398222016 | ELAC2 | c.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 |
17 | g.12992829T>G | CA498009555 | ELAC2 | c.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=) | |
17 | g.12992830G>A | CA498009556 | ELAC2 | c.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=) | |
17 | g.12992830G>C | CA498009557 | ELAC2 | c.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=) | |
17 | g.12992830G>T | CA498009558 | ELAC2 | c.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=) | |
17 | g.12992831A>C | CA398222017 | ELAC2 | c.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) | |
17 | g.12992831A>G | CA398222018 | ELAC2 | c.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) | |
17 | g.12992831A>T | CA398222019 | ELAC2 | c.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) | |
17 | g.12992832C>A | CA8400787 | ELAC2 | c.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 |
17 | g.12992832C= | CA2248421301 | ELAC2 | c.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=) | |
17 | g.12992832C>G | CA398222020 | ELAC2 | c.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 |
17 | g.12992832C>T | CA288074910 | ELAC2 | c.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 |
17 | g.12992832_12992835delinsCCTT | CA2248421300 | ELAC2 | c.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=) | |
17 | g.12992833C>A | CA398222021 | ELAC2 | c.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) | |
17 | g.12992833C= | CA2248421306 | ELAC2 | c.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=) | |
17 | g.12992833C>G | CA398222022 | ELAC2 | c.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 |
17 | g.12992833C>T | CA288074916 | ELAC2 | c.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 |
17 | g.12992836_12992838del | CA8400788 | ELAC2 | c.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 |
17 | g.12992834T>A | CA398222023 | ELAC2 | c.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 |
17 | g.12992834T>C | CA398222024 | ELAC2 | c.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) | |
17 | g.12992834T>G | CA398222025 | ELAC2 | c.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 |
17 | g.12992835T>A | CA398222026 | ELAC2 | c.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) | |
17 | g.12992835T>C | CA398222027 | ELAC2 | c.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 |
17 | g.12992835T>G | CA398222028 | ELAC2 | c.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) | |
17 | g.12992836C>A | CA398222029 | ELAC2 | c.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) | |
17 | g.12992836C>G | CA398222030 | ELAC2 | c.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) | |
17 | g.12992836C>T | CA498009559 | ELAC2 | c.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=) | |
17 | g.12992837T>A | CA398222033 | ELAC2 | c.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) | |
17 | g.12992837T>C | CA398222031 | ELAC2 | c.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) | |
17 | g.12992837T>G | CA398222032 | ELAC2 | c.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) | |
17 | g.12992838T>A | CA398222034 | ELAC2 | c.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) | |
17 | g.12992838T>C | CA398222035 | ELAC2 | c.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) | |
17 | g.12992838T>G | CA398222036 | ELAC2 | c.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 |
17 | g.12992838T= | CA2248421309 | ELAC2 | c.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=) | |
17 | g.12992839G>A | CA498009560 | ELAC2 | c.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=) | |
17 | g.12992839G>C | CA498009561 | ELAC2 | c.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=) | |
17 | g.12992839G>T | CA498009562 | ELAC2 | c.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=) | |
17 | g.12992840G>A | CA398222037 | ELAC2 | c.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 |
17 | g.12992840G>C | CA398222038 | ELAC2 | c.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 |
17 | g.12992840G= | CA2248421315 | ELAC2 | c.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=) | |
17 | g.12992840G>T | CA398222039 | ELAC2 | c.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 |
17 | g.12992841C>A | CA398222040 | ELAC2 | c.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 |
17 | g.12992841C= | CA2248421319 | ELAC2 | c.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=) | |
17 | g.12992841C>G | CA398222041 | ELAC2 | c.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 |
17 | g.12992841C>T | CA398222042 | ELAC2 | c.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 |
17 | g.12992842C>A | CA398222043 | ELAC2 | c.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) | |
17 | g.12992842C= | CA2248421325 | ELAC2 | c.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=) | |
17 | g.12992842C>G | CA398222044 | ELAC2 | c.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 |
17 | g.12992842C>T | CA8400789 | ELAC2 | c.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 |
17 | g.12992843T>A | CA398222046 | ELAC2 | c.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 |
17 | g.12992843T>C | CA398222047 | ELAC2 | c.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 |
17 | g.12992843T>G | CA398222045 | ELAC2 | c.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) | |
17 | g.12992843T= | CA2248421332 | ELAC2 | c.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=) | |
17 | g.12992844G>A | CA398222050 | ELAC2 | c.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 |
17 | g.12992844G>C | CA398222048 | ELAC2 | c.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) | |
17 | g.12992844G= | CA2248421336 | ELAC2 | c.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=) | |
17 | g.12992844G>T | CA398222049 | ELAC2 | c.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) | |
17 | g.12992845T>A | CA498009563 | ELAC2 | c.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=) | |
17 | g.12992845T>C | CA498009564 | ELAC2 | c.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 |
17 | g.12992845T>G | CA498009565 | ELAC2 | c.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=) | |
17 | g.12992845T= | CA2248421338 | ELAC2 | c.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=) | |
17 | g.12992846G>A | CA8400790 | ELAC2 | c.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 |
17 | g.12992846G>C | CA398222051 | ELAC2 | c.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) | |
17 | g.12992846G= | CA2248421341 | ELAC2 | c.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=) | |
17 | g.12992846G>T | CA398222052 | ELAC2 | c.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) | |
17 | g.12992847G>A | CA398222053 | ELAC2 | c.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 |
17 | g.12992847G>C | CA398222054 | ELAC2 | c.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) | |
17 | g.12992847G>T | CA398222055 | ELAC2 | c.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) | |
17 | g.12992848C>A | CA398222056 | ELAC2 | c.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) | |
17 | g.12992848C>G | CA398222057 | ELAC2 | c.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) | |
17 | g.12992848C>T | CA498009566 | ELAC2 | c.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=) | |
17 | g.12992849T>A | CA398222058 | ELAC2 | c.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) | |
17 | g.12992849T>C | CA398222059 | ELAC2 | c.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) | |
17 | g.12992849T>G | CA398222060 | ELAC2 | c.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) | |
17 | g.12992850C>A | CA398222062 | ELAC2 | c.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) | |
17 | g.12992850C= | CA2248421345 | ELAC2 | c.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=) | |
17 | g.12992850C>G | CA398222061 | ELAC2 | c.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) | |
17 | g.12992850C>T | CA8400791 | ELAC2 | c.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 |
17 | g.12992850_12992852delinsCCT | CA2248421348 | ELAC2 | c.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=) | |
17 | g.12992851C>A | CA398222063 | ELAC2 | c.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) | |
17 | g.12992851C>G | CA398222064 | ELAC2 | c.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) | |
17 | g.12992851C>T | CA498009567 | ELAC2 | c.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=) | |
17 | g.12992851_12992854delinsCTCT | CA2248421351 | ELAC2 | c.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=) | |
17 | g.12992853_12992854del | CA624926720 | ELAC2 | c.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 |
17 | g.12992852T>A | CA398222065 | ELAC2 | c.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) | |
17 | g.12992852T>C | CA398222066 | ELAC2 | c.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 |
17 | g.12992852T>G | CA398222067 | ELAC2 | c.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) | |
17 | g.12992852_12992854del | CA726211189 | ELAC2 | c.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 |
17 | g.12992853C>A | CA398222068 | ELAC2 | c.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) | |
17 | g.12992853C= | CA2248421365 | ELAC2 | c.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=) | |
17 | g.12992853C>G | CA398222069 | ELAC2 | c.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 |
17 | g.12992853C>T | CA398222070 | ELAC2 | c.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) | |
17 | g.12992853_12992855delinsCTG | CA2248421366 | ELAC2 | c.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=) | |
17 | g.12992854T>A | CA498009568 | ELAC2 | c.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=) | |
17 | g.12992854T>C | CA498009569 | ELAC2 | c.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 |
17 | g.12992854T>G | CA498009570 | ELAC2 | c.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=) | |
17 | g.12992854T= | CA2248421369 | ELAC2 | c.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=) | |
17 | g.12992858_12992859del | CA8400792 | ELAC2 | c.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 |
17 | g.12992855G>A | CA398222071 | ELAC2 | c.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 |
17 | g.12992855G>C | CA288074925 | ELAC2 | c.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 |
17 | g.12992855G= | CA2248421372 | ELAC2 | c.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=) | |
17 | g.12992855G>T | CA398222072 | ELAC2 | c.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) | |
17 | g.12992856T>A | CA398222075 | ELAC2 | c.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) | |
17 | g.12992856T>C | CA398222074 | ELAC2 | c.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 |
17 | g.12992856T>G | CA398222073 | ELAC2 | c.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) | |
17 | g.12992857G>A | CA498009571 | ELAC2 | c.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=) | |
17 | g.12992857G>C | CA398222076 | ELAC2 | c.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) | |
17 | g.12992857G>T | CA398222077 | ELAC2 | c.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 |
17 | g.12992858T>A | CA398222078 | ELAC2 | c.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) | |
17 | g.12992858T>C | CA398222079 | ELAC2 | c.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 |
17 | g.12992858T>G | CA398222080 | ELAC2 | c.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) | |
17 | g.12992859G>A | CA398222083 | ELAC2 | c.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 |
17 | g.12992859G>C | CA398222082 | ELAC2 | c.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) | |
17 | g.12992859G>T | CA398222081 | ELAC2 | c.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) | |
17 | g.12992860G>A | CA498009573 | ELAC2 | c.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=) | |
17 | g.12992860G>C | CA498009574 | ELAC2 | c.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=) | |
17 | g.12992860G>T | CA498009575 | ELAC2 | c.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 |
17 | g.12992861G>A | CA398222084 | ELAC2 | c.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 |
17 | g.12992861G>C | CA398222085 | ELAC2 | c.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 |
17 | g.12992861G= | CA2248421376 | ELAC2 | c.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=) | |
17 | g.12992861G>T | CA398222086 | ELAC2 | c.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) | |
17 | g.12992862C>A | CA398222087 | ELAC2 | c.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 |
17 | g.12992862C= | CA2248421379 | ELAC2 | c.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=) | |
17 | g.12992862C>G | CA8400793 | ELAC2 | c.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 |
17 | g.12992862C>T | CA398222088 | ELAC2 | c.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 |
17 | g.12992863C>A | CA498009576 | ELAC2 | c.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=) | |
17 | g.12992863C= | CA2248421381 | ELAC2 | c.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=) | |
17 | g.12992863C>G | CA498009577 | ELAC2 | c.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=) | |
17 | g.12992863C>T | CA498009578 | ELAC2 | c.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 |
17 | g.12992864C>A | CA8400794 | ELAC2 | c.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 |
17 | g.12992864C= | CA2248421384 | ELAC2 | c.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=) | |
17 | g.12992864C>G | CA398222090 | ELAC2 | c.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 |
17 | g.12992864C>T | CA398222089 | ELAC2 | c.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 |
17 | g.12992865G>A | CA8400795 | ELAC2 | c.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 |
17 | g.12992865G>C | CA398222091 | ELAC2 | c.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) | |
17 | g.12992865G= | CA2248421388 | ELAC2 | c.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=) | |
17 | g.12992865G>T | CA498009579 | ELAC2 | c.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=) | |
17 | g.12992866C>A | CA398222092 | ELAC2 | c.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) | |
17 | g.12992866C>G | CA398222093 | ELAC2 | c.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) | |
17 | g.12992866C>T | CA498009580 | ELAC2 | c.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 |
17 | g.12992867T>A | CA398222094 | ELAC2 | c.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) | |
17 | g.12992867T>C | CA398222095 | ELAC2 | c.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) | |
17 | g.12992867T>G | CA398222096 | ELAC2 | c.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) | |
17 | g.12992868T>A | CA398222097 | ELAC2 | c.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) | |
17 | g.12992868T>C | CA8400796 | ELAC2 | c.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 |
17 | g.12992868T>G | CA398222098 | ELAC2 | c.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) | |
17 | g.12992868T= | CA2248421391 | ELAC2 | c.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=) | |
17 | g.12992869C>A | CA398222099 | ELAC2 | c.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) | |
17 | g.12992869C>G | CA398222100 | ELAC2 | c.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 |
17 | g.12992869C>T | CA498009581 | ELAC2 | c.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=) | |
17 | g.12992870T>A | CA398222102 | ELAC2 | c.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) | |
17 | g.12992870T>C | CA398222103 | ELAC2 | c.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 |
17 | g.12992870T>G | CA398222101 | ELAC2 | c.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) | |
17 | g.12992870T= | CA2248421394 | ELAC2 | c.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=) | |
17 | g.12992871G>A | CA398222105 | ELAC2 | c.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 |
17 | g.12992871G>C | CA398222104 | ELAC2 | c.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) | |
17 | g.12992871G>T | CA398222106 | ELAC2 | c.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) | |
17 | g.12992872C>A | CA398222107 | ELAC2 | c.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) | |
17 | g.12992872C= | CA2248421398 | ELAC2 | c.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=) | |
17 | g.12992872C>G | CA398222108 | ELAC2 | c.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) | |
17 | g.12992872C>T | CA8400797 | ELAC2 | c.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 |
17 | g.12992873T>A | CA288074940 | ELAC2 | c.2426A>T (p.Gln809Leu) c.2369A>T (p.Gln790Leu) c.2306A>T (p.Gln769Leu) n.2313A>T n.2255A>T n.3256A>T n.1972A>T c.1825A>T c.2423A>T (p.Gln808Leu) c.2585A>T (p.Gln862Leu) c.2507A>T (p.Gln836Leu) c.2504A>T (p.Gln835Leu) c.2501A>T (p.Gln834Leu) c.2465A>T (p.Gln822Leu) c.2384A>T (p.Gln795Leu) c.2303A>T (p.Gln768Leu) c.2222A>T (p.Gln741Leu) c.2219A>T (p.Gln740Leu) c.2144A>T (p.Gln715Leu) c.2141A>T (p.Gln714Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992873T>C | CA398222110 | ELAC2 | c.2426A>G (p.Gln809Arg) c.2369A>G (p.Gln790Arg) c.2306A>G (p.Gln769Arg) n.2313A>G n.2255A>G n.3256A>G n.1972A>G c.1825A>G c.2423A>G (p.Gln808Arg) c.2585A>G (p.Gln862Arg) c.2507A>G (p.Gln836Arg) c.2504A>G (p.Gln835Arg) c.2501A>G (p.Gln834Arg) c.2465A>G (p.Gln822Arg) c.2384A>G (p.Gln795Arg) c.2303A>G (p.Gln768Arg) c.2222A>G (p.Gln741Arg) c.2219A>G (p.Gln740Arg) c.2144A>G (p.Gln715Arg) c.2141A>G (p.Gln714Arg) | gnomAD v4 |
17 | g.12992873T>G | CA398222109 | ELAC2 | c.2426A>C (p.Gln809Pro) c.2369A>C (p.Gln790Pro) c.2306A>C (p.Gln769Pro) n.2313A>C n.2255A>C n.3256A>C n.1972A>C c.1825A>C c.2423A>C (p.Gln808Pro) c.2585A>C (p.Gln862Pro) c.2507A>C (p.Gln836Pro) c.2504A>C (p.Gln835Pro) c.2501A>C (p.Gln834Pro) c.2465A>C (p.Gln822Pro) c.2384A>C (p.Gln795Pro) c.2303A>C (p.Gln768Pro) c.2222A>C (p.Gln741Pro) c.2219A>C (p.Gln740Pro) c.2144A>C (p.Gln715Pro) c.2141A>C (p.Gln714Pro) | |
17 | g.12992873T= | CA2248421402 | ELAC2 | c.2426A= (p.Gln809=) c.2369A= (p.Gln790=) c.2306A= (p.Gln769=) n.2313A= n.2255A= n.3256A= n.1972A= c.1825A= c.2423A= (p.Gln808=) c.2585A= (p.Gln862=) c.2507A= (p.Gln836=) c.2504A= (p.Gln835=) c.2501A= (p.Gln834=) c.2465A= (p.Gln822=) c.2384A= (p.Gln795=) c.2303A= (p.Gln768=) c.2222A= (p.Gln741=) c.2219A= (p.Gln740=) c.2144A= (p.Gln715=) c.2141A= (p.Gln714=) | |
17 | g.12992874G>A | CA398222111 | ELAC2 | c.2425C>T (p.Gln809Ter) c.2368C>T (p.Gln790Ter) c.2305C>T (p.Gln769Ter) n.2312C>T n.2254C>T n.3255C>T n.1971C>T c.1824C>T c.2422C>T (p.Gln808Ter) c.2584C>T (p.Gln862Ter) c.2506C>T (p.Gln836Ter) c.2503C>T (p.Gln835Ter) c.2500C>T (p.Gln834Ter) c.2464C>T (p.Gln822Ter) c.2383C>T (p.Gln795Ter) c.2302C>T (p.Gln768Ter) c.2221C>T (p.Gln741Ter) c.2218C>T (p.Gln740Ter) c.2143C>T (p.Gln715Ter) c.2140C>T (p.Gln714Ter) | |
17 | g.12992874G>C | CA398222113 | ELAC2 | c.2425C>G (p.Gln809Glu) c.2368C>G (p.Gln790Glu) c.2305C>G (p.Gln769Glu) n.2312C>G n.2254C>G n.3255C>G n.1971C>G c.1824C>G c.2422C>G (p.Gln808Glu) c.2584C>G (p.Gln862Glu) c.2506C>G (p.Gln836Glu) c.2503C>G (p.Gln835Glu) c.2500C>G (p.Gln834Glu) c.2464C>G (p.Gln822Glu) c.2383C>G (p.Gln795Glu) c.2302C>G (p.Gln768Glu) c.2221C>G (p.Gln741Glu) c.2218C>G (p.Gln740Glu) c.2143C>G (p.Gln715Glu) c.2140C>G (p.Gln714Glu) | |
17 | g.12992874G>T | CA398222112 | ELAC2 | c.2425C>A (p.Gln809Lys) c.2368C>A (p.Gln790Lys) c.2305C>A (p.Gln769Lys) n.2312C>A n.2254C>A n.3255C>A n.1971C>A c.1824C>A c.2422C>A (p.Gln808Lys) c.2584C>A (p.Gln862Lys) c.2506C>A (p.Gln836Lys) c.2503C>A (p.Gln835Lys) c.2500C>A (p.Gln834Lys) c.2464C>A (p.Gln822Lys) c.2383C>A (p.Gln795Lys) c.2302C>A (p.Gln768Lys) c.2221C>A (p.Gln741Lys) c.2218C>A (p.Gln740Lys) c.2143C>A (p.Gln715Lys) c.2140C>A (p.Gln714Lys) | gnomAD v4 |
17 | g.12992875A>C | CA498009584 | ELAC2 | c.2424T>G (p.Pro808=) c.2367T>G (p.Pro789=) c.2304T>G (p.Pro768=) n.2311T>G n.2253T>G n.3254T>G n.1970T>G c.1823T>G c.2421T>G (p.Pro807=) c.2583T>G (p.Pro861=) c.2505T>G (p.Pro835=) c.2502T>G (p.Pro834=) c.2499T>G (p.Pro833=) c.2463T>G (p.Pro821=) c.2382T>G (p.Pro794=) c.2301T>G (p.Pro767=) c.2220T>G (p.Pro740=) c.2217T>G (p.Pro739=) c.2142T>G (p.Pro714=) c.2139T>G (p.Pro713=) | dbSNP |
17 | g.12992875A>G | CA498009582 | ELAC2 | c.2424T>C (p.Pro808=) c.2367T>C (p.Pro789=) c.2304T>C (p.Pro768=) n.2311T>C n.2253T>C n.3254T>C n.1970T>C c.1823T>C c.2421T>C (p.Pro807=) c.2583T>C (p.Pro861=) c.2505T>C (p.Pro835=) c.2502T>C (p.Pro834=) c.2499T>C (p.Pro833=) c.2463T>C (p.Pro821=) c.2382T>C (p.Pro794=) c.2301T>C (p.Pro767=) c.2220T>C (p.Pro740=) c.2217T>C (p.Pro739=) c.2142T>C (p.Pro714=) c.2139T>C (p.Pro713=) | dbSNP |
17 | g.12992875A>T | CA498009583 | ELAC2 | c.2424T>A (p.Pro808=) c.2367T>A (p.Pro789=) c.2304T>A (p.Pro768=) n.2311T>A n.2253T>A n.3254T>A n.1970T>A c.1823T>A c.2421T>A (p.Pro807=) c.2583T>A (p.Pro861=) c.2505T>A (p.Pro835=) c.2502T>A (p.Pro834=) c.2499T>A (p.Pro833=) c.2463T>A (p.Pro821=) c.2382T>A (p.Pro794=) c.2301T>A (p.Pro767=) c.2220T>A (p.Pro740=) c.2217T>A (p.Pro739=) c.2142T>A (p.Pro714=) c.2139T>A (p.Pro713=) | dbSNP |
17 | g.12992875_12992877delinsAGG | CA2248421405 | ELAC2 | c.2422_2424delinsCCT (p.Pro808=) c.2365_2367delinsCCT (p.Pro789=) c.2302_2304delinsCCT (p.Pro768=) n.2309_2311delinsCCT n.2251_2253delinsCCT n.3252_3254delinsCCT n.1968_1970delinsCCT c.1821_1823delinsCCT c.2419_2421delinsCCT (p.Pro807=) c.2581_2583delinsCCT (p.Pro861=) c.2503_2505delinsCCT (p.Pro835=) c.2500_2502delinsCCT (p.Pro834=) c.2497_2499delinsCCT (p.Pro833=) c.2461_2463delinsCCT (p.Pro821=) c.2380_2382delinsCCT (p.Pro794=) c.2299_2301delinsCCT (p.Pro767=) c.2218_2220delinsCCT (p.Pro740=) c.2215_2217delinsCCT (p.Pro739=) c.2140_2142delinsCCT (p.Pro714=) c.2137_2139delinsCCT (p.Pro713=) | |
17 | g.12992875_12992877delinsGGC | CA288074943 | ELAC2 | c.2422_2424delinsGCC (p.Pro808Ala) c.2365_2367delinsGCC (p.Pro789Ala) c.2302_2304delinsGCC (p.Pro768Ala) n.2309_2311delinsGCC n.2251_2253delinsGCC n.3252_3254delinsGCC n.1968_1970delinsGCC c.1821_1823delinsGCC c.2419_2421delinsGCC (p.Pro807Ala) c.2581_2583delinsGCC (p.Pro861Ala) c.2503_2505delinsGCC (p.Pro835Ala) c.2500_2502delinsGCC (p.Pro834Ala) c.2497_2499delinsGCC (p.Pro833Ala) c.2461_2463delinsGCC (p.Pro821Ala) c.2380_2382delinsGCC (p.Pro794Ala) c.2299_2301delinsGCC (p.Pro767Ala) c.2218_2220delinsGCC (p.Pro740Ala) c.2215_2217delinsGCC (p.Pro739Ala) c.2140_2142delinsGCC (p.Pro714Ala) c.2137_2139delinsGCC (p.Pro713Ala) | dbSNP |
17 | g.12992876G>A | CA398222114 | ELAC2 | c.2423C>T (p.Pro808Leu) c.2366C>T (p.Pro789Leu) c.2303C>T (p.Pro768Leu) n.2310C>T n.2252C>T n.3253C>T n.1969C>T c.1822C>T c.2420C>T (p.Pro807Leu) c.2582C>T (p.Pro861Leu) c.2504C>T (p.Pro835Leu) c.2501C>T (p.Pro834Leu) c.2498C>T (p.Pro833Leu) c.2462C>T (p.Pro821Leu) c.2381C>T (p.Pro794Leu) c.2300C>T (p.Pro767Leu) c.2219C>T (p.Pro740Leu) c.2216C>T (p.Pro739Leu) c.2141C>T (p.Pro714Leu) c.2138C>T (p.Pro713Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992876G>C | CA398222116 | ELAC2 | c.2423C>G (p.Pro808Arg) c.2366C>G (p.Pro789Arg) c.2303C>G (p.Pro768Arg) n.2310C>G n.2252C>G n.3253C>G n.1969C>G c.1822C>G c.2420C>G (p.Pro807Arg) c.2582C>G (p.Pro861Arg) c.2504C>G (p.Pro835Arg) c.2501C>G (p.Pro834Arg) c.2498C>G (p.Pro833Arg) c.2462C>G (p.Pro821Arg) c.2381C>G (p.Pro794Arg) c.2300C>G (p.Pro767Arg) c.2219C>G (p.Pro740Arg) c.2216C>G (p.Pro739Arg) c.2141C>G (p.Pro714Arg) c.2138C>G (p.Pro713Arg) | |
17 | g.12992876G= | CA2248421408 | ELAC2 | c.2423C= (p.Pro808=) c.2366C= (p.Pro789=) c.2303C= (p.Pro768=) n.2310C= n.2252C= n.3253C= n.1969C= c.1822C= c.2420C= (p.Pro807=) c.2582C= (p.Pro861=) c.2504C= (p.Pro835=) c.2501C= (p.Pro834=) c.2498C= (p.Pro833=) c.2462C= (p.Pro821=) c.2381C= (p.Pro794=) c.2300C= (p.Pro767=) c.2219C= (p.Pro740=) c.2216C= (p.Pro739=) c.2141C= (p.Pro714=) c.2138C= (p.Pro713=) | |
17 | g.12992876G>T | CA398222115 | ELAC2 | c.2423C>A (p.Pro808His) c.2366C>A (p.Pro789His) c.2303C>A (p.Pro768His) n.2310C>A n.2252C>A n.3253C>A n.1969C>A c.1822C>A c.2420C>A (p.Pro807His) c.2582C>A (p.Pro861His) c.2504C>A (p.Pro835His) c.2501C>A (p.Pro834His) c.2498C>A (p.Pro833His) c.2462C>A (p.Pro821His) c.2381C>A (p.Pro794His) c.2300C>A (p.Pro767His) c.2219C>A (p.Pro740His) c.2216C>A (p.Pro739His) c.2141C>A (p.Pro714His) c.2138C>A (p.Pro713His) | |
17 | g.12992877G>A | CA398222117 | ELAC2 | c.2422C>T (p.Pro808Ser) c.2365C>T (p.Pro789Ser) c.2302C>T (p.Pro768Ser) n.2309C>T n.2251C>T n.3252C>T n.1968C>T c.1821C>T c.2419C>T (p.Pro807Ser) c.2581C>T (p.Pro861Ser) c.2503C>T (p.Pro835Ser) c.2500C>T (p.Pro834Ser) c.2497C>T (p.Pro833Ser) c.2461C>T (p.Pro821Ser) c.2380C>T (p.Pro794Ser) c.2299C>T (p.Pro767Ser) c.2218C>T (p.Pro740Ser) c.2215C>T (p.Pro739Ser) c.2140C>T (p.Pro714Ser) c.2137C>T (p.Pro713Ser) | ClinVar dbSNP |
17 | g.12992877G>C | CA398222118 | ELAC2 | c.2422C>G (p.Pro808Ala) c.2365C>G (p.Pro789Ala) c.2302C>G (p.Pro768Ala) n.2309C>G n.2251C>G n.3252C>G n.1968C>G c.1821C>G c.2419C>G (p.Pro807Ala) c.2581C>G (p.Pro861Ala) c.2503C>G (p.Pro835Ala) c.2500C>G (p.Pro834Ala) c.2497C>G (p.Pro833Ala) c.2461C>G (p.Pro821Ala) c.2380C>G (p.Pro794Ala) c.2299C>G (p.Pro767Ala) c.2218C>G (p.Pro740Ala) c.2215C>G (p.Pro739Ala) c.2140C>G (p.Pro714Ala) c.2137C>G (p.Pro713Ala) | |
17 | g.12992877G= | CA2248421411 | ELAC2 | c.2422C= (p.Pro808=) c.2365C= (p.Pro789=) c.2302C= (p.Pro768=) n.2309C= n.2251C= n.3252C= n.1968C= c.1821C= c.2419C= (p.Pro807=) c.2581C= (p.Pro861=) c.2503C= (p.Pro835=) c.2500C= (p.Pro834=) c.2497C= (p.Pro833=) c.2461C= (p.Pro821=) c.2380C= (p.Pro794=) c.2299C= (p.Pro767=) c.2218C= (p.Pro740=) c.2215C= (p.Pro739=) c.2140C= (p.Pro714=) c.2137C= (p.Pro713=) | |
17 | g.12992877G>T | CA398222119 | ELAC2 | c.2422C>A (p.Pro808Thr) c.2365C>A (p.Pro789Thr) c.2302C>A (p.Pro768Thr) n.2309C>A n.2251C>A n.3252C>A n.1968C>A c.1821C>A c.2419C>A (p.Pro807Thr) c.2581C>A (p.Pro861Thr) c.2503C>A (p.Pro835Thr) c.2500C>A (p.Pro834Thr) c.2497C>A (p.Pro833Thr) c.2461C>A (p.Pro821Thr) c.2380C>A (p.Pro794Thr) c.2299C>A (p.Pro767Thr) c.2218C>A (p.Pro740Thr) c.2215C>A (p.Pro739Thr) c.2140C>A (p.Pro714Thr) c.2137C>A (p.Pro713Thr) | |
17 | g.12992878C>A | CA398222120 | ELAC2 | c.2421G>T (p.Glu807Asp) c.2364G>T (p.Glu788Asp) c.2301G>T (p.Glu767Asp) n.2308G>T n.2250G>T n.3251G>T n.1967G>T c.1820G>T c.2418G>T (p.Glu806Asp) c.2580G>T (p.Glu860Asp) c.2502G>T (p.Glu834Asp) c.2499G>T (p.Glu833Asp) c.2496G>T (p.Glu832Asp) c.2460G>T (p.Glu820Asp) c.2379G>T (p.Glu793Asp) c.2298G>T (p.Glu766Asp) c.2217G>T (p.Glu739Asp) c.2214G>T (p.Glu738Asp) c.2139G>T (p.Glu713Asp) c.2136G>T (p.Glu712Asp) | |
17 | g.12992878C>G | CA398222121 | ELAC2 | c.2421G>C (p.Glu807Asp) c.2364G>C (p.Glu788Asp) c.2301G>C (p.Glu767Asp) n.2308G>C n.2250G>C n.3251G>C n.1967G>C c.1820G>C c.2418G>C (p.Glu806Asp) c.2580G>C (p.Glu860Asp) c.2502G>C (p.Glu834Asp) c.2499G>C (p.Glu833Asp) c.2496G>C (p.Glu832Asp) c.2460G>C (p.Glu820Asp) c.2379G>C (p.Glu793Asp) c.2298G>C (p.Glu766Asp) c.2217G>C (p.Glu739Asp) c.2214G>C (p.Glu738Asp) c.2139G>C (p.Glu713Asp) c.2136G>C (p.Glu712Asp) | |
17 | g.12992878C>T | CA498009585 | ELAC2 | c.2421G>A (p.Glu807=) c.2364G>A (p.Glu788=) c.2301G>A (p.Glu767=) n.2308G>A n.2250G>A n.3251G>A n.1967G>A c.1820G>A c.2418G>A (p.Glu806=) c.2580G>A (p.Glu860=) c.2502G>A (p.Glu834=) c.2499G>A (p.Glu833=) c.2496G>A (p.Glu832=) c.2460G>A (p.Glu820=) c.2379G>A (p.Glu793=) c.2298G>A (p.Glu766=) c.2217G>A (p.Glu739=) c.2214G>A (p.Glu738=) c.2139G>A (p.Glu713=) c.2136G>A (p.Glu712=) | ClinVar dbSNP |
17 | g.12992879T>A | CA398222122 | ELAC2 | c.2420A>T (p.Glu807Val) c.2363A>T (p.Glu788Val) c.2300A>T (p.Glu767Val) n.2307A>T n.2249A>T n.3250A>T n.1966A>T c.1819A>T c.2417A>T (p.Glu806Val) c.2579A>T (p.Glu860Val) c.2501A>T (p.Glu834Val) c.2498A>T (p.Glu833Val) c.2495A>T (p.Glu832Val) c.2459A>T (p.Glu820Val) c.2378A>T (p.Glu793Val) c.2297A>T (p.Glu766Val) c.2216A>T (p.Glu739Val) c.2213A>T (p.Glu738Val) c.2138A>T (p.Glu713Val) c.2135A>T (p.Glu712Val) | |
17 | g.12992879T>C | CA398222123 | ELAC2 | c.2420A>G (p.Glu807Gly) c.2363A>G (p.Glu788Gly) c.2300A>G (p.Glu767Gly) n.2307A>G n.2249A>G n.3250A>G n.1966A>G c.1819A>G c.2417A>G (p.Glu806Gly) c.2579A>G (p.Glu860Gly) c.2501A>G (p.Glu834Gly) c.2498A>G (p.Glu833Gly) c.2495A>G (p.Glu832Gly) c.2459A>G (p.Glu820Gly) c.2378A>G (p.Glu793Gly) c.2297A>G (p.Glu766Gly) c.2216A>G (p.Glu739Gly) c.2213A>G (p.Glu738Gly) c.2138A>G (p.Glu713Gly) c.2135A>G (p.Glu712Gly) | dbSNP |
17 | g.12992879T>G | CA398222124 | ELAC2 | c.2420A>C (p.Glu807Ala) c.2363A>C (p.Glu788Ala) c.2300A>C (p.Glu767Ala) n.2307A>C n.2249A>C n.3250A>C n.1966A>C c.1819A>C c.2417A>C (p.Glu806Ala) c.2579A>C (p.Glu860Ala) c.2501A>C (p.Glu834Ala) c.2498A>C (p.Glu833Ala) c.2495A>C (p.Glu832Ala) c.2459A>C (p.Glu820Ala) c.2378A>C (p.Glu793Ala) c.2297A>C (p.Glu766Ala) c.2216A>C (p.Glu739Ala) c.2213A>C (p.Glu738Ala) c.2138A>C (p.Glu713Ala) c.2135A>C (p.Glu712Ala) |