Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6302163_6302166del | CA2578035808 | WFS1 | c.2404_2407del (p.Ser802AlafsTer?) c.2345_2348del c.2368_2371del (p.Ser790AlafsTer?) c.2119_2122del (p.Ser707AlafsTer?) n.2553_2556del c.2377_2380del (p.Ser793AlafsTer?) | gnomAD v4 |
4 | g.6302163_6302168del | CA2554632095 | WFS1 | c.2404_2409del (p.Ser802_Arg803del) c.2345_2350del c.2368_2373del (p.Ser790_Arg791del) c.2119_2124del (p.Ser707_Arg708del) n.2553_2558del c.2377_2382del (p.Ser793_Arg794del) | |
4 | g.6302163_6302186del | CA2739270017 | WFS1 | c.2404_2427del (p.Ser802_Asp809del) c.2345_2368del c.2368_2391del (p.Ser790_Asp797del) c.2119_2142del (p.Ser707_Asp714del) n.2553_2576del c.2377_2400del (p.Ser793_Asp800del) | ClinVar |
4 | g.6302166C>A | CA356178452 | WFS1 | c.2407C>A (p.Arg803Ser) c.2348C>A c.2371C>A (p.Arg791Ser) c.2122C>A (p.Arg708Ser) n.2556C>A c.2380C>A (p.Arg794Ser) | gnomAD v4 |
4 | g.6302166C= | CA1435772421 | WFS1 | c.2407C= (p.Arg803=) c.2348C= c.2371C= (p.Arg791=) c.2122C= (p.Arg708=) n.2556C= c.2380C= (p.Arg794=) | |
4 | g.6302166C>G | CA356178453 | WFS1 | c.2407C>G (p.Arg803Gly) c.2348C>G c.2371C>G (p.Arg791Gly) c.2122C>G (p.Arg708Gly) n.2556C>G c.2380C>G (p.Arg794Gly) | |
4 | g.6302166C>T | CA2839708 | WFS1 | c.2407C>T (p.Arg803Cys) c.2348C>T c.2371C>T (p.Arg791Cys) c.2122C>T (p.Arg708Cys) n.2556C>T c.2380C>T (p.Arg794Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302167G>A | CA10619015 | WFS1 | c.2408G>A (p.Arg803His) c.2349G>A c.2372G>A (p.Arg791His) c.2123G>A (p.Arg708His) n.2557G>A c.2381G>A (p.Arg794His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302167G>C | CA2839709 | WFS1 | c.2408G>C (p.Arg803Pro) c.2349G>C c.2372G>C (p.Arg791Pro) c.2123G>C (p.Arg708Pro) n.2557G>C c.2381G>C (p.Arg794Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302167G= | CA1435772423 | WFS1 | c.2408G= (p.Arg803=) c.2349G= c.2372G= (p.Arg791=) c.2123G= (p.Arg708=) n.2557G= c.2381G= (p.Arg794=) | |
4 | g.6302167G>T | CA356178454 | WFS1 | c.2408G>T (p.Arg803Leu) c.2349G>T c.2372G>T (p.Arg791Leu) c.2123G>T (p.Arg708Leu) n.2557G>T c.2381G>T (p.Arg794Leu) | |
4 | g.6302168C>A | CA438368277 | WFS1 | c.2409C>A (p.Arg803=) c.2350C>A c.2373C>A (p.Arg791=) c.2124C>A (p.Arg708=) n.2558C>A c.2382C>A (p.Arg794=) | |
4 | g.6302168C>G | CA438368278 | WFS1 | c.2409C>G (p.Arg803=) c.2350C>G c.2373C>G (p.Arg791=) c.2124C>G (p.Arg708=) n.2558C>G c.2382C>G (p.Arg794=) | |
4 | g.6302168C>T | CA438368279 | WFS1 | c.2409C>T (p.Arg803=) c.2350C>T c.2373C>T (p.Arg791=) c.2124C>T (p.Arg708=) n.2558C>T c.2382C>T (p.Arg794=) | ClinVar gnomAD v4 |
4 | g.6302169A>C | CA356178455 | WFS1 | c.2410A>C (p.Ser804Arg) c.2351A>C c.2374A>C (p.Ser792Arg) c.2125A>C (p.Ser709Arg) n.2559A>C c.2383A>C (p.Ser795Arg) | gnomAD v4 |
4 | g.6302169A>G | CA356178456 | WFS1 | c.2410A>G (p.Ser804Gly) c.2351A>G c.2374A>G (p.Ser792Gly) c.2125A>G (p.Ser709Gly) n.2559A>G c.2383A>G (p.Ser795Gly) | gnomAD v4 |
4 | g.6302169A>T | CA356178457 | WFS1 | c.2410A>T (p.Ser804Cys) c.2351A>T c.2374A>T (p.Ser792Cys) c.2125A>T (p.Ser709Cys) n.2559A>T c.2383A>T (p.Ser795Cys) | |
4 | g.6302170G>A | CA356178460 | WFS1 | c.2411G>A (p.Ser804Asn) c.2352G>A c.2375G>A (p.Ser792Asn) c.2126G>A (p.Ser709Asn) n.2560G>A c.2384G>A (p.Ser795Asn) | |
4 | g.6302170G>C | CA356178459 | WFS1 | c.2411G>C (p.Ser804Thr) c.2352G>C c.2375G>C (p.Ser792Thr) c.2126G>C (p.Ser709Thr) n.2560G>C c.2384G>C (p.Ser795Thr) | |
4 | g.6302170G>T | CA356178458 | WFS1 | c.2411G>T (p.Ser804Ile) c.2352G>T c.2375G>T (p.Ser792Ile) c.2126G>T (p.Ser709Ile) n.2560G>T c.2384G>T (p.Ser795Ile) | gnomAD v4 |
4 | g.6302171C>A | CA356178461 | WFS1 | c.2412C>A (p.Ser804Arg) c.2353C>A c.2376C>A (p.Ser792Arg) c.2127C>A (p.Ser709Arg) n.2561C>A c.2385C>A (p.Ser795Arg) | |
4 | g.6302171C= | CA1435772425 | WFS1 | c.2412C= (p.Ser804=) c.2353C= c.2376C= (p.Ser792=) c.2127C= (p.Ser709=) n.2561C= c.2385C= (p.Ser795=) | |
4 | g.6302171C>G | CA356178462 | WFS1 | c.2412C>G (p.Ser804Arg) c.2353C>G c.2376C>G (p.Ser792Arg) c.2127C>G (p.Ser709Arg) n.2561C>G c.2385C>G (p.Ser795Arg) | dbSNP gnomAD v4 |
4 | g.6302171C>T | CA438368280 | WFS1 | c.2412C>T (p.Ser804=) c.2353C>T c.2376C>T (p.Ser792=) c.2127C>T (p.Ser709=) n.2561C>T c.2385C>T (p.Ser795=) | dbSNP gnomAD v4 |
4 | g.6302172C>A | CA356178463 | WFS1 | c.2413C>A (p.Arg805Ser) c.2354C>A c.2377C>A (p.Arg793Ser) c.2128C>A (p.Arg710Ser) n.2562C>A c.2386C>A (p.Arg796Ser) | |
4 | g.6302172C= | CA1435772427 | WFS1 | c.2413C= (p.Arg805=) c.2354C= c.2377C= (p.Arg793=) c.2128C= (p.Arg710=) n.2562C= c.2386C= (p.Arg796=) | |
4 | g.6302172C>G | CA356178464 | WFS1 | c.2413C>G (p.Arg805Gly) c.2354C>G c.2377C>G (p.Arg793Gly) c.2128C>G (p.Arg710Gly) n.2562C>G c.2386C>G (p.Arg796Gly) | |
4 | g.6302172C>T | CA91797127 | WFS1 | c.2413C>T (p.Arg805Cys) c.2354C>T c.2377C>T (p.Arg793Cys) c.2128C>T (p.Arg710Cys) n.2562C>T c.2386C>T (p.Arg796Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302172_6302174delinsCGC | CA1435772428 | WFS1 | c.2413_2415delinsCGC (p.Arg805=) c.2354_2356delinsCGC c.2377_2379delinsCGC (p.Arg793=) c.2128_2130delinsCGC (p.Arg710=) n.2562_2564delinsCGC c.2386_2388delinsCGC (p.Arg796=) | |
4 | g.6302172_6302174delinsGAG | CA91797124 | WFS1 | c.2413_2415delinsGAG (p.Arg805Glu) c.2354_2356delinsGAG c.2377_2379delinsGAG (p.Arg793Glu) c.2128_2130delinsGAG (p.Arg710Glu) n.2562_2564delinsGAG c.2386_2388delinsGAG (p.Arg796Glu) | dbSNP |
4 | g.6302173G>A | CA2839710 | WFS1 | c.2414G>A (p.Arg805His) c.2355G>A c.2378G>A (p.Arg793His) c.2129G>A (p.Arg710His) n.2563G>A c.2387G>A (p.Arg796His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302173G>C | CA356178465 | WFS1 | c.2414G>C (p.Arg805Pro) c.2355G>C c.2378G>C (p.Arg793Pro) c.2129G>C (p.Arg710Pro) n.2563G>C c.2387G>C (p.Arg796Pro) | gnomAD v4 |
4 | g.6302173G= | CA1435772430 | WFS1 | c.2414G= (p.Arg805=) c.2355G= c.2378G= (p.Arg793=) c.2129G= (p.Arg710=) n.2563G= c.2387G= (p.Arg796=) | |
4 | g.6302173G>T | CA356178466 | WFS1 | c.2414G>T (p.Arg805Leu) c.2355G>T c.2378G>T (p.Arg793Leu) c.2129G>T (p.Arg710Leu) n.2563G>T c.2387G>T (p.Arg796Leu) | |
4 | g.6302174C>A | CA438368282 | WFS1 | c.2415C>A (p.Arg805=) c.2356C>A c.2379C>A (p.Arg793=) c.2130C>A (p.Arg710=) n.2564C>A c.2388C>A (p.Arg796=) | |
4 | g.6302174C= | CA1435772431 | WFS1 | c.2415C= (p.Arg805=) c.2356C= c.2379C= (p.Arg793=) c.2130C= (p.Arg710=) n.2564C= c.2388C= (p.Arg796=) | |
4 | g.6302174C>G | CA438368281 | WFS1 | c.2415C>G (p.Arg805=) c.2356C>G c.2379C>G (p.Arg793=) c.2130C>G (p.Arg710=) n.2564C>G c.2388C>G (p.Arg796=) | |
4 | g.6302174C>T | CA2839711 | WFS1 | c.2415C>T (p.Arg805=) c.2356C>T c.2379C>T (p.Arg793=) c.2130C>T (p.Arg710=) n.2564C>T c.2388C>T (p.Arg796=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302174_6302177delinsCGAG | CA1435772432 | WFS1 | c.2415_2418delinsCGAG (p.Arg805=) c.2356_2359delinsCGAG c.2379_2382delinsCGAG (p.Arg793=) c.2130_2133delinsCGAG (p.Arg710=) n.2564_2567delinsCGAG c.2388_2391delinsCGAG (p.Arg796=) | |
4 | g.6302175G>A | CA247675 | WFS1 | c.2416G>A (p.Glu806Lys) c.2357G>A c.2380G>A (p.Glu794Lys) c.2131G>A (p.Glu711Lys) n.2565G>A c.2389G>A (p.Glu797Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302175G>C | CA356178467 | WFS1 | c.2416G>C (p.Glu806Gln) c.2357G>C c.2380G>C (p.Glu794Gln) c.2131G>C (p.Glu711Gln) n.2565G>C c.2389G>C (p.Glu797Gln) | |
4 | g.6302175G= | CA1435772434 | WFS1 | c.2416G= (p.Glu806=) c.2357G= c.2380G= (p.Glu794=) c.2131G= (p.Glu711=) n.2565G= c.2389G= (p.Glu797=) | |
4 | g.6302175G>T | CA356178468 | WFS1 | c.2416G>T (p.Glu806Ter) c.2357G>T c.2380G>T (p.Glu794Ter) c.2131G>T (p.Glu711Ter) n.2565G>T c.2389G>T (p.Glu797Ter) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302175_6302176insGGCCGG | CA2526109292 | WFS1 | c.2416_2417insGGCCGG (p.Arg805_Glu806insGlyPro) c.2357_2358insGGCCGG c.2380_2381insGGCCGG (p.Arg793_Glu794insGlyPro) c.2131_2132insGGCCGG (p.Arg710_Glu711insGlyPro) n.2565_2566insGGCCGG c.2389_2390insGGCCGG (p.Arg796_Glu797insGlyPro) | |
4 | g.6302180_6302182dup | CA2669843465 | WFS1 | c.2421_2423dup (p.Glu807_Asp808insGlu) c.2362_2364dup c.2385_2387dup (p.Glu795_Asp796insGlu) c.2136_2138dup (p.Glu712_Asp713insGlu) n.2570_2572dup c.2394_2396dup (p.Glu798_Asp799insGlu) | gnomAD v4 |
4 | g.6302180_6302182del | CA2839712 | WFS1 | c.2421_2423del (p.Glu807del) c.2362_2364del c.2385_2387del (p.Glu795del) c.2136_2138del (p.Glu712del) n.2570_2572del c.2394_2396del (p.Glu798del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302176A= | CA1435772436 | WFS1 | c.2417A= (p.Glu806=) c.2358A= c.2381A= (p.Glu794=) c.2132A= (p.Glu711=) n.2566A= c.2390A= (p.Glu797=) | |
4 | g.6302176A>C | CA356178470 | WFS1 | c.2417A>C (p.Glu806Ala) c.2358A>C c.2381A>C (p.Glu794Ala) c.2132A>C (p.Glu711Ala) n.2566A>C c.2390A>C (p.Glu797Ala) | |
4 | g.6302176A>G | CA2839713 | WFS1 | c.2417A>G (p.Glu806Gly) c.2358A>G c.2381A>G (p.Glu794Gly) c.2132A>G (p.Glu711Gly) n.2566A>G c.2390A>G (p.Glu797Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302176A>T | CA356178469 | WFS1 | c.2417A>T (p.Glu806Val) c.2358A>T c.2381A>T (p.Glu794Val) c.2132A>T (p.Glu711Val) n.2566A>T c.2390A>T (p.Glu797Val) | |
4 | g.6302177G>A | CA438368283 | WFS1 | c.2418G>A (p.Glu806=) c.2359G>A c.2382G>A (p.Glu794=) c.2133G>A (p.Glu711=) n.2567G>A c.2391G>A (p.Glu797=) | |
4 | g.6302177G>C | CA356178471 | WFS1 | c.2418G>C (p.Glu806Asp) c.2359G>C c.2382G>C (p.Glu794Asp) c.2133G>C (p.Glu711Asp) n.2567G>C c.2391G>C (p.Glu797Asp) | gnomAD v4 |
4 | g.6302177G>T | CA356178472 | WFS1 | c.2418G>T (p.Glu806Asp) c.2359G>T c.2382G>T (p.Glu794Asp) c.2133G>T (p.Glu711Asp) n.2567G>T c.2391G>T (p.Glu797Asp) | |
4 | g.6302177_6302191dup | CA549707932 | WFS1 | c.2418_2432dup (p.Thr811_Lys812insGluAspAspValThr) c.2359_2373dup c.2382_2396dup (p.Thr799_Lys800insGluAspAspValThr) c.2133_2147dup (p.Thr716_Lys717insGluAspAspValThr) n.2567_2581dup c.2391_2405dup (p.Thr802_Lys803insGluAspAspValThr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302178G>A | CA2839714 | WFS1 | c.2419G>A (p.Glu807Lys) c.2360G>A c.2383G>A (p.Glu795Lys) c.2134G>A (p.Glu712Lys) n.2568G>A c.2392G>A (p.Glu798Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302178G>C | CA356178473 | WFS1 | c.2419G>C (p.Glu807Gln) c.2360G>C c.2383G>C (p.Glu795Gln) c.2134G>C (p.Glu712Gln) n.2568G>C c.2392G>C (p.Glu798Gln) | |
4 | g.6302178G= | CA1435772438 | WFS1 | c.2419G= (p.Glu807=) c.2360G= c.2383G= (p.Glu795=) c.2134G= (p.Glu712=) n.2568G= c.2392G= (p.Glu798=) | |
4 | g.6302178G>T | CA356178474 | WFS1 | c.2419G>T (p.Glu807Ter) c.2360G>T c.2383G>T (p.Glu795Ter) c.2134G>T (p.Glu712Ter) n.2568G>T c.2392G>T (p.Glu798Ter) | |
4 | g.6302178_6302192dup | CA2760271235 | WFS1 | c.2419_2433dup (p.Thr811_Lys812insGluAspAspValThr) c.2360_2374dup c.2383_2397dup (p.Thr799_Lys800insGluAspAspValThr) c.2134_2148dup (p.Thr716_Lys717insGluAspAspValThr) n.2568_2582dup c.2392_2406dup (p.Thr802_Lys803insGluAspAspValThr) | |
4 | g.6302179A>C | CA356178475 | WFS1 | c.2420A>C (p.Glu807Ala) c.2361A>C c.2384A>C (p.Glu795Ala) c.2135A>C (p.Glu712Ala) n.2569A>C c.2393A>C (p.Glu798Ala) | |
4 | g.6302179A>G | CA356178476 | WFS1 | c.2420A>G (p.Glu807Gly) c.2361A>G c.2384A>G (p.Glu795Gly) c.2135A>G (p.Glu712Gly) n.2569A>G c.2393A>G (p.Glu798Gly) | gnomAD v4 |
4 | g.6302179A>T | CA356178477 | WFS1 | c.2420A>T (p.Glu807Val) c.2361A>T c.2384A>T (p.Glu795Val) c.2135A>T (p.Glu712Val) n.2569A>T c.2393A>T (p.Glu798Val) | |
4 | g.6302180G>A | CA2839715 | WFS1 | c.2421G>A (p.Glu807=) c.2362G>A c.2385G>A (p.Glu795=) c.2136G>A (p.Glu712=) n.2570G>A c.2394G>A (p.Glu798=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302180G>C | CA179679 | WFS1 | c.2421G>C (p.Glu807Asp) c.2362G>C c.2385G>C (p.Glu795Asp) c.2136G>C (p.Glu712Asp) n.2570G>C c.2394G>C (p.Glu798Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302180G= | CA1435772439 | WFS1 | c.2421G= (p.Glu807=) c.2362G= c.2385G= (p.Glu795=) c.2136G= (p.Glu712=) n.2570G= c.2394G= (p.Glu798=) | |
4 | g.6302180G>T | CA356178478 | WFS1 | c.2421G>T (p.Glu807Asp) c.2362G>T c.2385G>T (p.Glu795Asp) c.2136G>T (p.Glu712Asp) n.2570G>T c.2394G>T (p.Glu798Asp) | |
4 | g.6302180_6302183delinsGGAC | CA1435772440 | WFS1 | c.2421_2424delinsGGAC (p.Glu807=) c.2362_2365delinsGGAC c.2385_2388delinsGGAC (p.Glu795=) c.2136_2139delinsGGAC (p.Glu712=) n.2570_2573delinsGGAC c.2394_2397delinsGGAC (p.Glu798=) | |
4 | g.6302180_6302185delinsCGACGT | CA2499217326 | WFS1 | c.2421_2426delinsCGACGT (p.Glu807_Asp809delinsAspAspVal) c.2362_2367delinsCGACGT c.2385_2390delinsCGACGT (p.Glu795_Asp797delinsAspAspVal) c.2136_2141delinsCGACGT (p.Glu712_Asp714delinsAspAspVal) n.2570_2575delinsCGACGT c.2394_2399delinsCGACGT (p.Glu798_Asp800delinsAspAspVal) | ClinVar dbSNP |
4 | g.6302181G>A | CA356178479 | WFS1 | c.2422G>A (p.Asp808Asn) c.2363G>A c.2386G>A (p.Asp796Asn) c.2137G>A (p.Asp713Asn) n.2571G>A c.2395G>A (p.Asp799Asn) | |
4 | g.6302181G>C | CA356178480 | WFS1 | c.2422G>C (p.Asp808His) c.2363G>C c.2386G>C (p.Asp796His) c.2137G>C (p.Asp713His) n.2571G>C c.2395G>C (p.Asp799His) | |
4 | g.6302181G= | CA1435772443 | WFS1 | c.2422G= (p.Asp808=) c.2363G= c.2386G= (p.Asp796=) c.2137G= (p.Asp713=) n.2571G= c.2395G= (p.Asp799=) | |
4 | g.6302181G>T | CA356178481 | WFS1 | c.2422G>T (p.Asp808Tyr) c.2363G>T c.2386G>T (p.Asp796Tyr) c.2137G>T (p.Asp713Tyr) n.2571G>T c.2395G>T (p.Asp799Tyr) | dbSNP |
4 | g.6302185_6302187dup | CA136352 | WFS1 | c.2426_2428dup (p.Asp809_Val810insAsp) c.2367_2369dup c.2390_2392dup (p.Asp797_Val798insAsp) c.2141_2143dup (p.Asp714_Val715insAsp) n.2575_2577dup c.2399_2401dup (p.Asp800_Val801insAsp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302185_6302187del | CA2839716 | WFS1 | c.2426_2428del (p.Asp809del) c.2367_2369del c.2390_2392del (p.Asp797del) c.2141_2143del (p.Asp714del) n.2575_2577del c.2399_2401del (p.Asp800del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302182A>C | CA356178484 | WFS1 | c.2423A>C (p.Asp808Ala) c.2364A>C c.2387A>C (p.Asp796Ala) c.2138A>C (p.Asp713Ala) n.2572A>C c.2396A>C (p.Asp799Ala) | |
4 | g.6302182A>G | CA356178483 | WFS1 | c.2423A>G (p.Asp808Gly) c.2364A>G c.2387A>G (p.Asp796Gly) c.2138A>G (p.Asp713Gly) n.2572A>G c.2396A>G (p.Asp799Gly) | |
4 | g.6302182A>T | CA356178482 | WFS1 | c.2423A>T (p.Asp808Val) c.2364A>T c.2387A>T (p.Asp796Val) c.2138A>T (p.Asp713Val) n.2572A>T c.2396A>T (p.Asp799Val) | |
4 | g.6302183C>A | CA356178485 | WFS1 | c.2424C>A (p.Asp808Glu) c.2365C>A c.2388C>A (p.Asp796Glu) c.2139C>A (p.Asp713Glu) n.2573C>A c.2397C>A (p.Asp799Glu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302183C= | CA1435772445 | WFS1 | c.2424C= (p.Asp808=) c.2365C= c.2388C= (p.Asp796=) c.2139C= (p.Asp713=) n.2573C= c.2397C= (p.Asp799=) | |
4 | g.6302183C>G | CA91797145 | WFS1 | c.2424C>G (p.Asp808Glu) c.2365C>G c.2388C>G (p.Asp796Glu) c.2139C>G (p.Asp713Glu) n.2573C>G c.2397C>G (p.Asp799Glu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302183C>T | CA2839717 | WFS1 | c.2424C>T (p.Asp808=) c.2365C>T c.2388C>T (p.Asp796=) c.2139C>T (p.Asp713=) n.2573C>T c.2397C>T (p.Asp799=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302184G>A | CA356178487 | WFS1 | c.2425G>A (p.Asp809Asn) c.2366G>A c.2389G>A (p.Asp797Asn) c.2140G>A (p.Asp714Asn) n.2574G>A c.2398G>A (p.Asp800Asn) | ClinVar dbSNP |
4 | g.6302184G>C | CA356178488 | WFS1 | c.2425G>C (p.Asp809His) c.2366G>C c.2389G>C (p.Asp797His) c.2140G>C (p.Asp714His) n.2574G>C c.2398G>C (p.Asp800His) | |
4 | g.6302184G= | CA1435772447 | WFS1 | c.2425G= (p.Asp809=) c.2366G= c.2389G= (p.Asp797=) c.2140G= (p.Asp714=) n.2574G= c.2398G= (p.Asp800=) | |
4 | g.6302184G>T | CA356178486 | WFS1 | c.2425G>T (p.Asp809Tyr) c.2366G>T c.2389G>T (p.Asp797Tyr) c.2140G>T (p.Asp714Tyr) n.2574G>T c.2398G>T (p.Asp800Tyr) | |
4 | g.6302185A= | CA1435772449 | WFS1 | c.2426A= (p.Asp809=) c.2367A= c.2390A= (p.Asp797=) c.2141A= (p.Asp714=) n.2575A= c.2399A= (p.Asp800=) | |
4 | g.6302185A>C | CA356178489 | WFS1 | c.2426A>C (p.Asp809Ala) c.2367A>C c.2390A>C (p.Asp797Ala) c.2141A>C (p.Asp714Ala) n.2575A>C c.2399A>C (p.Asp800Ala) | |
4 | g.6302185A>G | CA356178490 | WFS1 | c.2426A>G (p.Asp809Gly) c.2367A>G c.2390A>G (p.Asp797Gly) c.2141A>G (p.Asp714Gly) n.2575A>G c.2399A>G (p.Asp800Gly) | |
4 | g.6302185A>T | CA356178491 | WFS1 | c.2426A>T (p.Asp809Val) c.2367A>T c.2390A>T (p.Asp797Val) c.2141A>T (p.Asp714Val) n.2575A>T c.2399A>T (p.Asp800Val) | ClinVar |
4 | g.6302185_6302186insACG | CA325474 | WFS1 | c.2426_2427insACG (p.Asp809delinsGluArg) c.2367_2368insACG c.2390_2391insACG (p.Asp797delinsGluArg) c.2141_2142insACG (p.Asp714delinsGluArg) n.2575_2576insACG c.2399_2400insACG (p.Asp800delinsGluArg) | ClinVar dbSNP |
4 | g.6302186C>A | CA356178492 | WFS1 | c.2427C>A (p.Asp809Glu) c.2368C>A c.2391C>A (p.Asp797Glu) c.2142C>A (p.Asp714Glu) n.2576C>A c.2400C>A (p.Asp800Glu) | |
4 | g.6302186C= | CA1435772452 | WFS1 | c.2427C= (p.Asp809=) c.2368C= c.2391C= (p.Asp797=) c.2142C= (p.Asp714=) n.2576C= c.2400C= (p.Asp800=) | |
4 | g.6302186C>G | CA356178493 | WFS1 | c.2427C>G (p.Asp809Glu) c.2368C>G c.2391C>G (p.Asp797Glu) c.2142C>G (p.Asp714Glu) n.2576C>G c.2400C>G (p.Asp800Glu) | |
4 | g.6302186C>T | CA2839718 | WFS1 | c.2427C>T (p.Asp809=) c.2368C>T c.2391C>T (p.Asp797=) c.2142C>T (p.Asp714=) n.2576C>T c.2400C>T (p.Asp800=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302187G>A | CA2839719 | WFS1 | c.2428G>A (p.Val810Ile) c.2369G>A c.2392G>A (p.Val798Ile) c.2143G>A (p.Val715Ile) n.2577G>A c.2401G>A (p.Val801Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302187G>C | CA2839720 | WFS1 | c.2428G>C (p.Val810Leu) c.2369G>C c.2392G>C (p.Val798Leu) c.2143G>C (p.Val715Leu) n.2577G>C c.2401G>C (p.Val801Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302187G= | CA1435772453 | WFS1 | c.2428G= (p.Val810=) c.2369G= c.2392G= (p.Val798=) c.2143G= (p.Val715=) n.2577G= c.2401G= (p.Val801=) | |
4 | g.6302187G>T | CA356178494 | WFS1 | c.2428G>T (p.Val810Phe) c.2369G>T c.2392G>T (p.Val798Phe) c.2143G>T (p.Val715Phe) n.2577G>T c.2401G>T (p.Val801Phe) | |
4 | g.6302188_6302218del | CA913107300 | WFS1 | c.2429_2459del (p.Val810AlafsTer?) c.2370_2400del c.2393_2423del (p.Val798AlafsTer?) c.2144_2174del (p.Val715AlafsTer?) n.2578_2608del c.2402_2432del (p.Val801AlafsTer?) | |
4 | g.6302187_6302188insGAC | CA2586973651 | WFS1 | c.2428_2429insGAC (p.Val810delinsGlyLeu) c.2369_2370insGAC c.2392_2393insGAC (p.Val798delinsGlyLeu) c.2143_2144insGAC (p.Val715delinsGlyLeu) n.2577_2578insGAC c.2401_2402insGAC (p.Val801delinsGlyLeu) | |
4 | g.6302188T>A | CA356178495 | WFS1 | c.2429T>A (p.Val810Asp) c.2370T>A c.2393T>A (p.Val798Asp) c.2144T>A (p.Val715Asp) n.2578T>A c.2402T>A (p.Val801Asp) | |
4 | g.6302188T>C | CA356178496 | WFS1 | c.2429T>C (p.Val810Ala) c.2370T>C c.2393T>C (p.Val798Ala) c.2144T>C (p.Val715Ala) n.2578T>C c.2402T>C (p.Val801Ala) | |
4 | g.6302188T>G | CA356178497 | WFS1 | c.2429T>G (p.Val810Gly) c.2370T>G c.2393T>G (p.Val798Gly) c.2144T>G (p.Val715Gly) n.2578T>G c.2402T>G (p.Val801Gly) | |
4 | g.6302189C>A | CA438368284 | WFS1 | c.2430C>A (p.Val810=) c.2371C>A c.2394C>A (p.Val798=) c.2145C>A (p.Val715=) n.2579C>A c.2403C>A (p.Val801=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302189C= | CA1435772455 | WFS1 | c.2430C= (p.Val810=) c.2371C= c.2394C= (p.Val798=) c.2145C= (p.Val715=) n.2579C= c.2403C= (p.Val801=) | |
4 | g.6302189C>G | CA438368285 | WFS1 | c.2430C>G (p.Val810=) c.2371C>G c.2394C>G (p.Val798=) c.2145C>G (p.Val715=) n.2579C>G c.2403C>G (p.Val801=) | dbSNP gnomAD v4 |
4 | g.6302189C>T | CA438368286 | WFS1 | c.2430C>T (p.Val810=) c.2371C>T c.2394C>T (p.Val798=) c.2145C>T (p.Val715=) n.2579C>T c.2403C>T (p.Val801=) | ClinVar gnomAD v4 |
4 | g.6302190A= | CA1435772456 | WFS1 | c.2431A= (p.Thr811=) c.2372A= c.2395A= (p.Thr799=) c.2146A= (p.Thr716=) n.2580A= c.2404A= (p.Thr802=) | |
4 | g.6302190A>C | CA356178498 | WFS1 | c.2431A>C (p.Thr811Pro) c.2372A>C c.2395A>C (p.Thr799Pro) c.2146A>C (p.Thr716Pro) n.2580A>C c.2404A>C (p.Thr802Pro) | |
4 | g.6302190A>G | CA356178499 | WFS1 | c.2431A>G (p.Thr811Ala) c.2372A>G c.2395A>G (p.Thr799Ala) c.2146A>G (p.Thr716Ala) n.2580A>G c.2404A>G (p.Thr802Ala) | |
4 | g.6302190A>T | CA356178500 | WFS1 | c.2431A>T (p.Thr811Ser) c.2372A>T c.2395A>T (p.Thr799Ser) c.2146A>T (p.Thr716Ser) n.2580A>T c.2404A>T (p.Thr802Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302191C>A | CA356178501 | WFS1 | c.2432C>A (p.Thr811Asn) c.2373C>A c.2396C>A (p.Thr799Asn) c.2147C>A (p.Thr716Asn) n.2581C>A c.2405C>A (p.Thr802Asn) | |
4 | g.6302191C>G | CA356178502 | WFS1 | c.2432C>G (p.Thr811Ser) c.2373C>G c.2396C>G (p.Thr799Ser) c.2147C>G (p.Thr716Ser) n.2581C>G c.2405C>G (p.Thr802Ser) | gnomAD v4 |
4 | g.6302191C>T | CA356178503 | WFS1 | c.2432C>T (p.Thr811Ile) c.2373C>T c.2396C>T (p.Thr799Ile) c.2147C>T (p.Thr716Ile) n.2581C>T c.2405C>T (p.Thr802Ile) | |
4 | g.6302192C>A | CA438368288 | WFS1 | c.2433C>A (p.Thr811=) c.2374C>A c.2397C>A (p.Thr799=) c.2148C>A (p.Thr716=) n.2582C>A c.2406C>A (p.Thr802=) | gnomAD v4 |
4 | g.6302192C= | CA1435772458 | WFS1 | c.2433C= (p.Thr811=) c.2374C= c.2397C= (p.Thr799=) c.2148C= (p.Thr716=) n.2582C= c.2406C= (p.Thr802=) | |
4 | g.6302192C>G | CA2839721 | WFS1 | c.2433C>G (p.Thr811=) c.2374C>G c.2397C>G (p.Thr799=) c.2148C>G (p.Thr716=) n.2582C>G c.2406C>G (p.Thr802=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302192C>T | CA438368287 | WFS1 | c.2433C>T (p.Thr811=) c.2374C>T c.2397C>T (p.Thr799=) c.2148C>T (p.Thr716=) n.2582C>T c.2406C>T (p.Thr802=) | dbSNP |
4 | g.6302193A= | CA1435772461 | WFS1 | c.2434A= (p.Lys812=) c.2375A= c.2398A= (p.Lys800=) c.2149A= (p.Lys717=) n.2583A= c.2407A= (p.Lys803=) | |
4 | g.6302193A>C | CA356178505 | WFS1 | c.2434A>C (p.Lys812Gln) c.2375A>C c.2398A>C (p.Lys800Gln) c.2149A>C (p.Lys717Gln) n.2583A>C c.2407A>C (p.Lys803Gln) | |
4 | g.6302193A>G | CA321406 | WFS1 | c.2434A>G (p.Lys812Glu) c.2375A>G c.2398A>G (p.Lys800Glu) c.2149A>G (p.Lys717Glu) n.2583A>G c.2407A>G (p.Lys803Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302193A>T | CA356178504 | WFS1 | c.2434A>T (p.Lys812Ter) c.2375A>T c.2398A>T (p.Lys800Ter) c.2149A>T (p.Lys717Ter) n.2583A>T c.2407A>T (p.Lys803Ter) | |
4 | g.6302194A>C | CA356178506 | WFS1 | c.2435A>C (p.Lys812Thr) c.2376A>C c.2399A>C (p.Lys800Thr) c.2150A>C (p.Lys717Thr) n.2584A>C c.2408A>C (p.Lys803Thr) | |
4 | g.6302194A>G | CA356178507 | WFS1 | c.2435A>G (p.Lys812Arg) c.2376A>G c.2399A>G (p.Lys800Arg) c.2150A>G (p.Lys717Arg) n.2584A>G c.2408A>G (p.Lys803Arg) | |
4 | g.6302194A>T | CA356178508 | WFS1 | c.2435A>T (p.Lys812Met) c.2376A>T c.2399A>T (p.Lys800Met) c.2150A>T (p.Lys717Met) n.2584A>T c.2408A>T (p.Lys803Met) | |
4 | g.6302195G>A | CA438368289 | WFS1 | c.2436G>A (p.Lys812=) c.2377G>A c.2400G>A (p.Lys800=) c.2151G>A (p.Lys717=) n.2585G>A c.2409G>A (p.Lys803=) | |
4 | g.6302195G>C | CA356178509 | WFS1 | c.2436G>C (p.Lys812Asn) c.2377G>C c.2400G>C (p.Lys800Asn) c.2151G>C (p.Lys717Asn) n.2585G>C c.2409G>C (p.Lys803Asn) | |
4 | g.6302195G>T | CA356178510 | WFS1 | c.2436G>T (p.Lys812Asn) c.2377G>T c.2400G>T (p.Lys800Asn) c.2151G>T (p.Lys717Asn) n.2585G>T c.2409G>T (p.Lys803Asn) | |
4 | g.6302196G>A | CA356178512 | WFS1 | c.2437G>A (p.Asp813Asn) c.2378G>A c.2401G>A (p.Asp801Asn) c.2152G>A (p.Asp718Asn) n.2586G>A c.2410G>A (p.Asp804Asn) | |
4 | g.6302196G>C | CA356178511 | WFS1 | c.2437G>C (p.Asp813His) c.2378G>C c.2401G>C (p.Asp801His) c.2152G>C (p.Asp718His) n.2586G>C c.2410G>C (p.Asp804His) | |
4 | g.6302196G= | CA1435772462 | WFS1 | c.2437G= (p.Asp813=) c.2378G= c.2401G= (p.Asp801=) c.2152G= (p.Asp718=) n.2586G= c.2410G= (p.Asp804=) | |
4 | g.6302196G>T | CA2839722 | WFS1 | c.2437G>T (p.Asp813Tyr) c.2378G>T c.2401G>T (p.Asp801Tyr) c.2152G>T (p.Asp718Tyr) n.2586G>T c.2410G>T (p.Asp804Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302197A>C | CA356178513 | WFS1 | c.2438A>C (p.Asp813Ala) c.2379A>C c.2402A>C (p.Asp801Ala) c.2153A>C (p.Asp718Ala) n.2587A>C c.2411A>C (p.Asp804Ala) | |
4 | g.6302197A>G | CA356178514 | WFS1 | c.2438A>G (p.Asp813Gly) c.2379A>G c.2402A>G (p.Asp801Gly) c.2153A>G (p.Asp718Gly) n.2587A>G c.2411A>G (p.Asp804Gly) | |
4 | g.6302197A>T | CA356178515 | WFS1 | c.2438A>T (p.Asp813Val) c.2379A>T c.2402A>T (p.Asp801Val) c.2153A>T (p.Asp718Val) n.2587A>T c.2411A>T (p.Asp804Val) | |
4 | g.6302198C>A | CA356178516 | WFS1 | c.2439C>A (p.Asp813Glu) c.2380C>A c.2403C>A (p.Asp801Glu) c.2154C>A (p.Asp718Glu) n.2588C>A c.2412C>A (p.Asp804Glu) | |
4 | g.6302198C>G | CA356178517 | WFS1 | c.2439C>G (p.Asp813Glu) c.2380C>G c.2403C>G (p.Asp801Glu) c.2154C>G (p.Asp718Glu) n.2588C>G c.2412C>G (p.Asp804Glu) | |
4 | g.6302198C>T | CA438368290 | WFS1 | c.2439C>T (p.Asp813=) c.2380C>T c.2403C>T (p.Asp801=) c.2154C>T (p.Asp718=) n.2588C>T c.2412C>T (p.Asp804=) | |
4 | g.6302199A= | CA1435772464 | WFS1 | c.2440A= (p.Ile814=) c.2381A= c.2404A= (p.Ile802=) c.2155A= (p.Ile719=) n.2589A= c.2413A= (p.Ile805=) | |
4 | g.6302199A>C | CA356178518 | WFS1 | c.2440A>C (p.Ile814Leu) c.2381A>C c.2404A>C (p.Ile802Leu) c.2155A>C (p.Ile719Leu) n.2589A>C c.2413A>C (p.Ile805Leu) | |
4 | g.6302199A>G | CA2839723 | WFS1 | c.2440A>G (p.Ile814Val) c.2381A>G c.2404A>G (p.Ile802Val) c.2155A>G (p.Ile719Val) n.2589A>G c.2413A>G (p.Ile805Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.6302199A>T | CA356178519 | WFS1 | c.2440A>T (p.Ile814Phe) c.2381A>T c.2404A>T (p.Ile802Phe) c.2155A>T (p.Ile719Phe) n.2589A>T c.2413A>T (p.Ile805Phe) | |
4 | g.6302200T>A | CA356178520 | WFS1 | c.2441T>A (p.Ile814Asn) c.2382T>A c.2405T>A (p.Ile802Asn) c.2156T>A (p.Ile719Asn) n.2590T>A c.2414T>A (p.Ile805Asn) | |
4 | g.6302200T>C | CA356178521 | WFS1 | c.2441T>C (p.Ile814Thr) c.2382T>C c.2405T>C (p.Ile802Thr) c.2156T>C (p.Ile719Thr) n.2590T>C c.2414T>C (p.Ile805Thr) | ClinVar dbSNP |
4 | g.6302200T>G | CA356178522 | WFS1 | c.2441T>G (p.Ile814Ser) c.2382T>G c.2405T>G (p.Ile802Ser) c.2156T>G (p.Ile719Ser) n.2590T>G c.2414T>G (p.Ile805Ser) | |
4 | g.6302200T= | CA1435772465 | WFS1 | c.2441T= (p.Ile814=) c.2382T= c.2405T= (p.Ile802=) c.2156T= (p.Ile719=) n.2590T= c.2414T= (p.Ile805=) | |
4 | g.6302201C>A | CA438368291 | WFS1 | c.2442C>A (p.Ile814=) c.2383C>A c.2406C>A (p.Ile802=) c.2157C>A (p.Ile719=) n.2591C>A c.2415C>A (p.Ile805=) | gnomAD v4 |
4 | g.6302201C= | CA1435772467 | WFS1 | c.2442C= (p.Ile814=) c.2383C= c.2406C= (p.Ile802=) c.2157C= (p.Ile719=) n.2591C= c.2415C= (p.Ile805=) | |
4 | g.6302201C>G | CA2839724 | WFS1 | c.2442C>G (p.Ile814Met) c.2383C>G c.2406C>G (p.Ile802Met) c.2157C>G (p.Ile719Met) n.2591C>G c.2415C>G (p.Ile805Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302201C>T | CA179677 | WFS1 | c.2442C>T (p.Ile814=) c.2383C>T c.2406C>T (p.Ile802=) c.2157C>T (p.Ile719=) n.2591C>T c.2415C>T (p.Ile805=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302202G>A | CA2839725 | WFS1 | c.2443G>A (p.Val815Met) c.2384G>A c.2407G>A (p.Val803Met) c.2158G>A (p.Val720Met) n.2592G>A c.2416G>A (p.Val806Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.6302202G>C | CA2839726 | WFS1 | c.2443G>C (p.Val815Leu) c.2384G>C c.2407G>C (p.Val803Leu) c.2158G>C (p.Val720Leu) n.2592G>C c.2416G>C (p.Val806Leu) | dbSNP ExAC |
4 | g.6302202G= | CA1435772470 | WFS1 | c.2443G= (p.Val815=) c.2384G= c.2407G= (p.Val803=) c.2158G= (p.Val720=) n.2592G= c.2416G= (p.Val806=) | |
4 | g.6302202G>T | CA356178523 | WFS1 | c.2443G>T (p.Val815Leu) c.2384G>T c.2407G>T (p.Val803Leu) c.2158G>T (p.Val720Leu) n.2592G>T c.2416G>T (p.Val806Leu) | |
4 | g.6302203T>A | CA356178524 | WFS1 | c.2444T>A (p.Val815Glu) c.2385T>A c.2408T>A (p.Val803Glu) c.2159T>A (p.Val720Glu) n.2593T>A c.2417T>A (p.Val806Glu) | |
4 | g.6302203T>C | CA356178525 | WFS1 | c.2444T>C (p.Val815Ala) c.2385T>C c.2408T>C (p.Val803Ala) c.2159T>C (p.Val720Ala) n.2593T>C c.2417T>C (p.Val806Ala) | |
4 | g.6302203T>G | CA356178526 | WFS1 | c.2444T>G (p.Val815Gly) c.2385T>G c.2408T>G (p.Val803Gly) c.2159T>G (p.Val720Gly) n.2593T>G c.2417T>G (p.Val806Gly) | gnomAD v4 |
4 | g.6302204G>A | CA438368292 | WFS1 | c.2445G>A (p.Val815=) c.2386G>A c.2409G>A (p.Val803=) c.2160G>A (p.Val720=) n.2594G>A c.2418G>A (p.Val806=) | gnomAD v4 |
4 | g.6302204G>C | CA438368293 | WFS1 | c.2445G>C (p.Val815=) c.2386G>C c.2409G>C (p.Val803=) c.2160G>C (p.Val720=) n.2594G>C c.2418G>C (p.Val806=) | |
4 | g.6302204G>T | CA438368294 | WFS1 | c.2445G>T (p.Val815=) c.2386G>T c.2409G>T (p.Val803=) c.2160G>T (p.Val720=) n.2594G>T c.2418G>T (p.Val806=) | COSMIC |
4 | g.6302205C>A | CA356178527 | WFS1 | c.2446C>A (p.Leu816Met) c.2387C>A c.2410C>A (p.Leu804Met) c.2161C>A (p.Leu721Met) n.2595C>A c.2419C>A (p.Leu807Met) | |
4 | g.6302205C= | CA1435772473 | WFS1 | c.2446C= (p.Leu816=) c.2387C= c.2410C= (p.Leu804=) c.2161C= (p.Leu721=) n.2595C= c.2419C= (p.Leu807=) | |
4 | g.6302205C>G | CA356178528 | WFS1 | c.2446C>G (p.Leu816Val) c.2387C>G c.2410C>G (p.Leu804Val) c.2161C>G (p.Leu721Val) n.2595C>G c.2419C>G (p.Leu807Val) | |
4 | g.6302205C>T | CA2839727 | WFS1 | c.2446C>T (p.Leu816=) c.2387C>T c.2410C>T (p.Leu804=) c.2161C>T (p.Leu721=) n.2595C>T c.2419C>T (p.Leu807=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302206T>A | CA356178529 | WFS1 | c.2447T>A (p.Leu816Gln) c.2388T>A c.2411T>A (p.Leu804Gln) c.2162T>A (p.Leu721Gln) n.2596T>A c.2420T>A (p.Leu807Gln) | |
4 | g.6302206T>C | CA356178530 | WFS1 | c.2447T>C (p.Leu816Pro) c.2388T>C c.2411T>C (p.Leu804Pro) c.2162T>C (p.Leu721Pro) n.2596T>C c.2420T>C (p.Leu807Pro) | ClinVar dbSNP |
4 | g.6302206T>G | CA356178531 | WFS1 | c.2447T>G (p.Leu816Arg) c.2388T>G c.2411T>G (p.Leu804Arg) c.2162T>G (p.Leu721Arg) n.2596T>G c.2420T>G (p.Leu807Arg) | gnomAD v4 |
4 | g.6302206T= | CA1435772474 | WFS1 | c.2447T= (p.Leu816=) c.2388T= c.2411T= (p.Leu804=) c.2162T= (p.Leu721=) n.2596T= c.2420T= (p.Leu807=) | |
4 | g.6302207G>A | CA438368296 | WFS1 | c.2448G>A (p.Leu816=) c.2389G>A c.2412G>A (p.Leu804=) c.2163G>A (p.Leu721=) n.2597G>A c.2421G>A (p.Leu807=) | gnomAD v4 |
4 | g.6302207G>C | CA438368297 | WFS1 | c.2448G>C (p.Leu816=) c.2389G>C c.2412G>C (p.Leu804=) c.2163G>C (p.Leu721=) n.2597G>C c.2421G>C (p.Leu807=) | |
4 | g.6302207G>T | CA438368295 | WFS1 | c.2448G>T (p.Leu816=) c.2389G>T c.2412G>T (p.Leu804=) c.2163G>T (p.Leu721=) n.2597G>T c.2421G>T (p.Leu807=) | |
4 | g.6302208C>A | CA438368298 | WFS1 | c.2449C>A (p.Arg817=) c.2390C>A c.2413C>A (p.Arg805=) c.2164C>A (p.Arg722=) n.2598C>A c.2422C>A (p.Arg808=) | gnomAD v4 |
4 | g.6302208C= | CA1435772476 | WFS1 | c.2449C= (p.Arg817=) c.2390C= c.2413C= (p.Arg805=) c.2164C= (p.Arg722=) n.2598C= c.2422C= (p.Arg808=) | |
4 | g.6302208C>G | CA356178532 | WFS1 | c.2449C>G (p.Arg817Gly) c.2390C>G c.2413C>G (p.Arg805Gly) c.2164C>G (p.Arg722Gly) n.2598C>G c.2422C>G (p.Arg808Gly) | |
4 | g.6302208C>T | CA2839728 | WFS1 | c.2449C>T (p.Arg817Trp) c.2390C>T c.2413C>T (p.Arg805Trp) c.2164C>T (p.Arg722Trp) n.2598C>T c.2422C>T (p.Arg808Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302209G>A | CA179681 | WFS1 | c.2450G>A (p.Arg817Gln) c.2391G>A c.2414G>A (p.Arg805Gln) c.2165G>A (p.Arg722Gln) n.2599G>A c.2423G>A (p.Arg808Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302209G>C | CA356178533 | WFS1 | c.2450G>C (p.Arg817Pro) c.2391G>C c.2414G>C (p.Arg805Pro) c.2165G>C (p.Arg722Pro) n.2599G>C c.2423G>C (p.Arg808Pro) | gnomAD v4 |
4 | g.6302209G= | CA1435772477 | WFS1 | c.2450G= (p.Arg817=) c.2391G= c.2414G= (p.Arg805=) c.2165G= (p.Arg722=) n.2599G= c.2423G= (p.Arg808=) | |
4 | g.6302209G>T | CA356178534 | WFS1 | c.2450G>T (p.Arg817Leu) c.2391G>T c.2414G>T (p.Arg805Leu) c.2165G>T (p.Arg722Leu) n.2599G>T c.2423G>T (p.Arg808Leu) | gnomAD v4 |
4 | g.6302210G>A | CA438368299 | WFS1 | c.2451G>A (p.Arg817=) c.2392G>A c.2415G>A (p.Arg805=) c.2166G>A (p.Arg722=) n.2600G>A c.2424G>A (p.Arg808=) | |
4 | g.6302210G>C | CA438368300 | WFS1 | c.2451G>C (p.Arg817=) c.2392G>C c.2415G>C (p.Arg805=) c.2166G>C (p.Arg722=) n.2600G>C c.2424G>C (p.Arg808=) | gnomAD v4 |
4 | g.6302210G= | CA1435772479 | WFS1 | c.2451G= (p.Arg817=) c.2392G= c.2415G= (p.Arg805=) c.2166G= (p.Arg722=) n.2600G= c.2424G= (p.Arg808=) | |
4 | g.6302210G>T | CA2839729 | WFS1 | c.2451G>T (p.Arg817=) c.2392G>T c.2415G>T (p.Arg805=) c.2166G>T (p.Arg722=) n.2600G>T c.2424G>T (p.Arg808=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302211G>A | CA356178535 | WFS1 | c.2452G>A (p.Ala818Thr) c.2393G>A c.2416G>A (p.Ala806Thr) c.2167G>A (p.Ala723Thr) n.2601G>A c.2425G>A (p.Ala809Thr) | dbSNP gnomAD v4 |
4 | g.6302211G>C | CA2839730 | WFS1 | c.2452G>C (p.Ala818Pro) c.2393G>C c.2416G>C (p.Ala806Pro) c.2167G>C (p.Ala723Pro) n.2601G>C c.2425G>C (p.Ala809Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302211G= | CA1435772481 | WFS1 | c.2452G= (p.Ala818=) c.2393G= c.2416G= (p.Ala806=) c.2167G= (p.Ala723=) n.2601G= c.2425G= (p.Ala809=) | |
4 | g.6302211G>T | CA356178536 | WFS1 | c.2452G>T (p.Ala818Ser) c.2393G>T c.2416G>T (p.Ala806Ser) c.2167G>T (p.Ala723Ser) n.2601G>T c.2425G>T (p.Ala809Ser) | |
4 | g.6302212C>A | CA356178539 | WFS1 | c.2453C>A (p.Ala818Asp) c.2394C>A c.2417C>A (p.Ala806Asp) c.2168C>A (p.Ala723Asp) n.2602C>A c.2426C>A (p.Ala809Asp) | gnomAD v4 |
4 | g.6302212C= | CA1435772482 | WFS1 | c.2453C= (p.Ala818=) c.2394C= c.2417C= (p.Ala806=) c.2168C= (p.Ala723=) n.2602C= c.2426C= (p.Ala809=) | |
4 | g.6302212C>G | CA356178538 | WFS1 | c.2453C>G (p.Ala818Gly) c.2394C>G c.2417C>G (p.Ala806Gly) c.2168C>G (p.Ala723Gly) n.2602C>G c.2426C>G (p.Ala809Gly) | |
4 | g.6302212C>T | CA356178537 | WFS1 | c.2453C>T (p.Ala818Val) c.2394C>T c.2417C>T (p.Ala806Val) c.2168C>T (p.Ala723Val) n.2602C>T c.2426C>T (p.Ala809Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302213C>A | CA438368301 | WFS1 | c.2454C>A (p.Ala818=) c.2395C>A c.2418C>A (p.Ala806=) c.2169C>A (p.Ala723=) n.2603C>A c.2427C>A (p.Ala809=) | |
4 | g.6302213C>G | CA438368302 | WFS1 | c.2454C>G (p.Ala818=) c.2395C>G c.2418C>G (p.Ala806=) c.2169C>G (p.Ala723=) n.2603C>G c.2427C>G (p.Ala809=) | |
4 | g.6302213C>T | CA438368303 | WFS1 | c.2454C>T (p.Ala818=) c.2395C>T c.2418C>T (p.Ala806=) c.2169C>T (p.Ala723=) n.2603C>T c.2427C>T (p.Ala809=) | gnomAD v4 |
4 | g.6302214A>C | CA356178540 | WFS1 | c.2455A>C (p.Ser819Arg) c.2396A>C c.2419A>C (p.Ser807Arg) c.2170A>C (p.Ser724Arg) n.2604A>C c.2428A>C (p.Ser810Arg) | |
4 | g.6302214A>G | CA356178541 | WFS1 | c.2455A>G (p.Ser819Gly) c.2396A>G c.2419A>G (p.Ser807Gly) c.2170A>G (p.Ser724Gly) n.2604A>G c.2428A>G (p.Ser810Gly) | gnomAD v4 |
4 | g.6302214A>T | CA356178542 | WFS1 | c.2455A>T (p.Ser819Cys) c.2396A>T c.2419A>T (p.Ser807Cys) c.2170A>T (p.Ser724Cys) n.2604A>T c.2428A>T (p.Ser810Cys) | |
4 | g.6302215G>A | CA356178543 | WFS1 | c.2456G>A (p.Ser819Asn) c.2397G>A c.2420G>A (p.Ser807Asn) c.2171G>A (p.Ser724Asn) n.2605G>A c.2429G>A (p.Ser810Asn) | |
4 | g.6302215G>C | CA2839732 | WFS1 | c.2456G>C (p.Ser819Thr) c.2397G>C c.2420G>C (p.Ser807Thr) c.2171G>C (p.Ser724Thr) n.2605G>C c.2429G>C (p.Ser810Thr) | dbSNP ExAC gnomAD v2 |
4 | g.6302215G= | CA1435772484 | WFS1 | c.2456G= (p.Ser819=) c.2397G= c.2420G= (p.Ser807=) c.2171G= (p.Ser724=) n.2605G= c.2429G= (p.Ser810=) | |
4 | g.6302215G>T | CA2839731 | WFS1 | c.2456G>T (p.Ser819Ile) c.2397G>T c.2420G>T (p.Ser807Ile) c.2171G>T (p.Ser724Ile) n.2605G>T c.2429G>T (p.Ser810Ile) | dbSNP ExAC gnomAD v4 |
4 | g.6302216C>A | CA356178544 | WFS1 | c.2457C>A (p.Ser819Arg) c.2398C>A c.2421C>A (p.Ser807Arg) c.2172C>A (p.Ser724Arg) n.2606C>A c.2430C>A (p.Ser810Arg) | |
4 | g.6302216C= | CA1435772485 | WFS1 | c.2457C= (p.Ser819=) c.2398C= c.2421C= (p.Ser807=) c.2172C= (p.Ser724=) n.2606C= c.2430C= (p.Ser810=) | |
4 | g.6302216C>G | CA356178545 | WFS1 | c.2457C>G (p.Ser819Arg) c.2398C>G c.2421C>G (p.Ser807Arg) c.2172C>G (p.Ser724Arg) n.2606C>G c.2430C>G (p.Ser810Arg) | |
4 | g.6302216C>T | CA91797179 | WFS1 | c.2457C>T (p.Ser819=) c.2398C>T c.2421C>T (p.Ser807=) c.2172C>T (p.Ser724=) n.2606C>T c.2430C>T (p.Ser810=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302217A= | CA1435772487 | WFS1 | c.2458A= (p.Ser820=) c.2399A= c.2422A= (p.Ser808=) c.2173A= (p.Ser725=) n.2607A= c.2431A= (p.Ser811=) | |
4 | g.6302217A>C | CA356178546 | WFS1 | c.2458A>C (p.Ser820Arg) c.2399A>C c.2422A>C (p.Ser808Arg) c.2173A>C (p.Ser725Arg) n.2607A>C c.2431A>C (p.Ser811Arg) | |
4 | g.6302217A>G | CA356178547 | WFS1 | c.2458A>G (p.Ser820Gly) c.2399A>G c.2422A>G (p.Ser808Gly) c.2173A>G (p.Ser725Gly) n.2607A>G c.2431A>G (p.Ser811Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302217A>T | CA356178548 | WFS1 | c.2458A>T (p.Ser820Cys) c.2399A>T c.2422A>T (p.Ser808Cys) c.2173A>T (p.Ser725Cys) n.2607A>T c.2431A>T (p.Ser811Cys) | |
4 | g.6302218G>A | CA2839733 | WFS1 | c.2459G>A (p.Ser820Asn) c.2400G>A c.2423G>A (p.Ser808Asn) c.2174G>A (p.Ser725Asn) n.2608G>A c.2432G>A (p.Ser811Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302218G>C | CA356178549 | WFS1 | c.2459G>C (p.Ser820Thr) c.2400G>C c.2423G>C (p.Ser808Thr) c.2174G>C (p.Ser725Thr) n.2608G>C c.2432G>C (p.Ser811Thr) | |
4 | g.6302218G= | CA1435772488 | WFS1 | c.2459G= (p.Ser820=) c.2400G= c.2423G= (p.Ser808=) c.2174G= (p.Ser725=) n.2608G= c.2432G= (p.Ser811=) | |
4 | g.6302218G>T | CA356178550 | WFS1 | c.2459G>T (p.Ser820Ile) c.2400G>T c.2423G>T (p.Ser808Ile) c.2174G>T (p.Ser725Ile) n.2608G>T c.2432G>T (p.Ser811Ile) | |
4 | g.6302219C>A | CA356178551 | WFS1 | c.2460C>A (p.Ser820Arg) c.2401C>A c.2424C>A (p.Ser808Arg) c.2175C>A (p.Ser725Arg) n.2609C>A c.2433C>A (p.Ser811Arg) | gnomAD v4 |
4 | g.6302219C= | CA1435772489 | WFS1 | c.2460C= (p.Ser820=) c.2401C= c.2424C= (p.Ser808=) c.2175C= (p.Ser725=) n.2609C= c.2433C= (p.Ser811=) | |
4 | g.6302219C>G | CA356178552 | WFS1 | c.2460C>G (p.Ser820Arg) c.2401C>G c.2424C>G (p.Ser808Arg) c.2175C>G (p.Ser725Arg) n.2609C>G c.2433C>G (p.Ser811Arg) | |
4 | g.6302219C>T | CA208765 | WFS1 | c.2460C>T (p.Ser820=) c.2401C>T c.2424C>T (p.Ser808=) c.2175C>T (p.Ser725=) n.2609C>T c.2433C>T (p.Ser811=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302220G>A | CA325167 | WFS1 | c.2461G>A (p.Glu821Lys) c.2402G>A c.2425G>A (p.Glu809Lys) c.2176G>A (p.Glu726Lys) n.2610G>A c.2434G>A (p.Glu812Lys) | ClinVar dbSNP |
4 | g.6302220G>C | CA356178553 | WFS1 | c.2461G>C (p.Glu821Gln) c.2402G>C c.2425G>C (p.Glu809Gln) c.2176G>C (p.Glu726Gln) n.2610G>C c.2434G>C (p.Glu812Gln) | |
4 | g.6302220G= | CA1435772491 | WFS1 | c.2461G= (p.Glu821=) c.2402G= c.2425G= (p.Glu809=) c.2176G= (p.Glu726=) n.2610G= c.2434G= (p.Glu812=) | |
4 | g.6302220G>T | CA356178554 | WFS1 | c.2461G>T (p.Glu821Ter) c.2402G>T c.2425G>T (p.Glu809Ter) c.2176G>T (p.Glu726Ter) n.2610G>T c.2434G>T (p.Glu812Ter) | |
4 | g.6302221A>C | CA356178555 | WFS1 | c.2462A>C (p.Glu821Ala) c.2403A>C c.2426A>C (p.Glu809Ala) c.2177A>C (p.Glu726Ala) n.2611A>C c.2435A>C (p.Glu812Ala) | |
4 | g.6302221A>G | CA356178556 | WFS1 | c.2462A>G (p.Glu821Gly) c.2403A>G c.2426A>G (p.Glu809Gly) c.2177A>G (p.Glu726Gly) n.2611A>G c.2435A>G (p.Glu812Gly) | |
4 | g.6302221A>T | CA356178557 | WFS1 | c.2462A>T (p.Glu821Val) c.2403A>T c.2426A>T (p.Glu809Val) c.2177A>T (p.Glu726Val) n.2611A>T c.2435A>T (p.Glu812Val) | |
4 | g.6302222G>A | CA438368304 | WFS1 | c.2463G>A (p.Glu821=) c.2404G>A c.2427G>A (p.Glu809=) c.2178G>A (p.Glu726=) n.2612G>A c.2436G>A (p.Glu812=) | ClinVar dbSNP |
4 | g.6302222G>C | CA356178558 | WFS1 | c.2463G>C (p.Glu821Asp) c.2404G>C c.2427G>C (p.Glu809Asp) c.2178G>C (p.Glu726Asp) n.2612G>C c.2436G>C (p.Glu812Asp) | |
4 | g.6302222G= | CA1435772493 | WFS1 | c.2463G= (p.Glu821=) c.2404G= c.2427G= (p.Glu809=) c.2178G= (p.Glu726=) n.2612G= c.2436G= (p.Glu812=) | |
4 | g.6302222G>T | CA356178559 | WFS1 | c.2463G>T (p.Glu821Asp) c.2404G>T c.2427G>T (p.Glu809Asp) c.2178G>T (p.Glu726Asp) n.2612G>T c.2436G>T (p.Glu812Asp) | COSMIC |
4 | g.6302223T>A | CA356178560 | WFS1 | c.2464T>A (p.Phe822Ile) c.2405T>A c.2428T>A (p.Phe810Ile) c.2179T>A (p.Phe727Ile) n.2613T>A c.2437T>A (p.Phe813Ile) | |
4 | g.6302223T>C | CA356178561 | WFS1 | c.2464T>C (p.Phe822Leu) c.2405T>C c.2428T>C (p.Phe810Leu) c.2179T>C (p.Phe727Leu) n.2613T>C c.2437T>C (p.Phe813Leu) | |
4 | g.6302223T>G | CA356178562 | WFS1 | c.2464T>G (p.Phe822Val) c.2405T>G c.2428T>G (p.Phe810Val) c.2179T>G (p.Phe727Val) n.2613T>G c.2437T>G (p.Phe813Val) | |
4 | g.6302224T>A | CA356178563 | WFS1 | c.2465T>A (p.Phe822Tyr) c.2406T>A c.2429T>A (p.Phe810Tyr) c.2180T>A (p.Phe727Tyr) n.2614T>A c.2438T>A (p.Phe813Tyr) | |
4 | g.6302224T>C | CA356178564 | WFS1 | c.2465T>C (p.Phe822Ser) c.2406T>C c.2429T>C (p.Phe810Ser) c.2180T>C (p.Phe727Ser) n.2614T>C c.2438T>C (p.Phe813Ser) | gnomAD v4 |
4 | g.6302224T>G | CA356178565 | WFS1 | c.2465T>G (p.Phe822Cys) c.2406T>G c.2429T>G (p.Phe810Cys) c.2180T>G (p.Phe727Cys) n.2614T>G c.2438T>G (p.Phe813Cys) | |
4 | g.6302225C>A | CA356178566 | WFS1 | c.2466C>A (p.Phe822Leu) c.2407C>A c.2430C>A (p.Phe810Leu) c.2181C>A (p.Phe727Leu) n.2615C>A c.2439C>A (p.Phe813Leu) | gnomAD v4 COSMIC |
4 | g.6302225C= | CA1435772495 | WFS1 | c.2466C= (p.Phe822=) c.2407C= c.2430C= (p.Phe810=) c.2181C= (p.Phe727=) n.2615C= c.2439C= (p.Phe813=) | |
4 | g.6302225C>G | CA356178567 | WFS1 | c.2466C>G (p.Phe822Leu) c.2407C>G c.2430C>G (p.Phe810Leu) c.2181C>G (p.Phe727Leu) n.2615C>G c.2439C>G (p.Phe813Leu) | ClinVar dbSNP |
4 | g.6302225C>T | CA438368305 | WFS1 | c.2466C>T (p.Phe822=) c.2407C>T c.2430C>T (p.Phe810=) c.2181C>T (p.Phe727=) n.2615C>T c.2439C>T (p.Phe813=) | |
4 | g.6302226A>C | CA356178568 | WFS1 | c.2467A>C (p.Lys823Gln) c.2408A>C c.2431A>C (p.Lys811Gln) c.2182A>C (p.Lys728Gln) n.2616A>C c.2440A>C (p.Lys814Gln) | |
4 | g.6302226A>G | CA356178569 | WFS1 | c.2467A>G (p.Lys823Glu) c.2408A>G c.2431A>G (p.Lys811Glu) c.2182A>G (p.Lys728Glu) n.2616A>G c.2440A>G (p.Lys814Glu) | |
4 | g.6302226A>T | CA356178570 | WFS1 | c.2467A>T (p.Lys823Ter) c.2408A>T c.2431A>T (p.Lys811Ter) c.2182A>T (p.Lys728Ter) n.2616A>T c.2440A>T (p.Lys814Ter) | |
4 | g.6302227A= | CA1435772496 | WFS1 | c.2468A= (p.Lys823=) c.2409A= c.2432A= (p.Lys811=) c.2183A= (p.Lys728=) n.2617A= c.2441A= (p.Lys814=) | |
4 | g.6302227A>C | CA356178571 | WFS1 | c.2468A>C (p.Lys823Thr) c.2409A>C c.2432A>C (p.Lys811Thr) c.2183A>C (p.Lys728Thr) n.2617A>C c.2441A>C (p.Lys814Thr) | |
4 | g.6302227A>G | CA2839734 | WFS1 | c.2468A>G (p.Lys823Arg) c.2409A>G c.2432A>G (p.Lys811Arg) c.2183A>G (p.Lys728Arg) n.2617A>G c.2441A>G (p.Lys814Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302227A>T | CA91797188 | WFS1 | c.2468A>T (p.Lys823Met) c.2409A>T c.2432A>T (p.Lys811Met) c.2183A>T (p.Lys728Met) n.2617A>T c.2441A>T (p.Lys814Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302227_6302228delinsGA | CA2573052348 | WFS1 | c.2468_2469delinsGA (p.Lys823Arg) c.2409_2410delinsGA c.2432_2433delinsGA (p.Lys811Arg) c.2183_2184delinsGA (p.Lys728Arg) n.2617_2618delinsGA c.2441_2442delinsGA (p.Lys814Arg) | ClinVar dbSNP |
4 | g.6302228del | CA2669843466 | WFS1 | c.2469del (p.Ser824AlafsTer?) c.2410del c.2433del (p.Ser812AlafsTer?) c.2184del (p.Ser729AlafsTer?) n.2618del c.2442del (p.Ser815AlafsTer?) | gnomAD v4 |
4 | g.6302228G>A | CA136354 | WFS1 | c.2469G>A (p.Lys823=) c.2410G>A c.2433G>A (p.Lys811=) c.2184G>A (p.Lys728=) n.2618G>A c.2442G>A (p.Lys814=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302228G>C | CA2839735 | WFS1 | c.2469G>C (p.Lys823Asn) c.2410G>C c.2433G>C (p.Lys811Asn) c.2184G>C (p.Lys728Asn) n.2618G>C c.2442G>C (p.Lys814Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302228G= | CA1435772498 | WFS1 | c.2469G= (p.Lys823=) c.2410G= c.2433G= (p.Lys811=) c.2184G= (p.Lys728=) n.2618G= c.2442G= (p.Lys814=) | |
4 | g.6302228G>T | CA356178572 | WFS1 | c.2469G>T (p.Lys823Asn) c.2410G>T c.2433G>T (p.Lys811Asn) c.2184G>T (p.Lys728Asn) n.2618G>T c.2442G>T (p.Lys814Asn) | dbSNP |
4 | g.6302229A= | CA1435772500 | WFS1 | c.2470A= (p.Ser824=) c.2411A= c.2434A= (p.Ser812=) c.2185A= (p.Ser729=) n.2619A= c.2443A= (p.Ser815=) | |
4 | g.6302229A>C | CA356178573 | WFS1 | c.2470A>C (p.Ser824Arg) c.2411A>C c.2434A>C (p.Ser812Arg) c.2185A>C (p.Ser729Arg) n.2619A>C c.2443A>C (p.Ser815Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302229A>G | CA356178574 | WFS1 | c.2470A>G (p.Ser824Gly) c.2411A>G c.2434A>G (p.Ser812Gly) c.2185A>G (p.Ser729Gly) n.2619A>G c.2443A>G (p.Ser815Gly) | gnomAD v4 |
4 | g.6302229A>T | CA356178575 | WFS1 | c.2470A>T (p.Ser824Cys) c.2411A>T c.2434A>T (p.Ser812Cys) c.2185A>T (p.Ser729Cys) n.2619A>T c.2443A>T (p.Ser815Cys) | |
4 | g.6302230G>A | CA356178577 | WFS1 | c.2471G>A (p.Ser824Asn) c.2412G>A c.2435G>A (p.Ser812Asn) c.2186G>A (p.Ser729Asn) n.2620G>A c.2444G>A (p.Ser815Asn) | |
4 | g.6302230G>C | CA356178578 | WFS1 | c.2471G>C (p.Ser824Thr) c.2412G>C c.2435G>C (p.Ser812Thr) c.2186G>C (p.Ser729Thr) n.2620G>C c.2444G>C (p.Ser815Thr) | gnomAD v4 |
4 | g.6302230G>T | CA356178576 | WFS1 | c.2471G>T (p.Ser824Ile) c.2412G>T c.2435G>T (p.Ser812Ile) c.2186G>T (p.Ser729Ile) n.2620G>T c.2444G>T (p.Ser815Ile) | |
4 | g.6302231C>A | CA356178580 | WFS1 | c.2472C>A (p.Ser824Arg) c.2413C>A c.2436C>A (p.Ser812Arg) c.2187C>A (p.Ser729Arg) n.2621C>A c.2445C>A (p.Ser815Arg) | gnomAD v4 |
4 | g.6302231C= | CA1435772501 | WFS1 | c.2472C= (p.Ser824=) c.2413C= c.2436C= (p.Ser812=) c.2187C= (p.Ser729=) n.2621C= c.2445C= (p.Ser815=) | |
4 | g.6302231C>G | CA356178579 | WFS1 | c.2472C>G (p.Ser824Arg) c.2413C>G c.2436C>G (p.Ser812Arg) c.2187C>G (p.Ser729Arg) n.2621C>G c.2445C>G (p.Ser815Arg) | gnomAD v4 |
4 | g.6302231C>T | CA2839736 | WFS1 | c.2472C>T (p.Ser824=) c.2413C>T c.2436C>T (p.Ser812=) c.2187C>T (p.Ser729=) n.2621C>T c.2445C>T (p.Ser815=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302232G>A | CA2839737 | WFS1 | c.2473G>A (p.Val825Met) c.2414G>A c.2437G>A (p.Val813Met) c.2188G>A (p.Val730Met) n.2622G>A c.2446G>A (p.Val816Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302232G>C | CA91797198 | WFS1 | c.2473G>C (p.Val825Leu) c.2414G>C c.2437G>C (p.Val813Leu) c.2188G>C (p.Val730Leu) n.2622G>C c.2446G>C (p.Val816Leu) | dbSNP |
4 | g.6302232G= | CA1435772503 | WFS1 | c.2473G= (p.Val825=) c.2414G= c.2437G= (p.Val813=) c.2188G= (p.Val730=) n.2622G= c.2446G= (p.Val816=) | |
4 | g.6302232G>T | CA356178581 | WFS1 | c.2473G>T (p.Val825Leu) c.2414G>T c.2437G>T (p.Val813Leu) c.2188G>T (p.Val730Leu) n.2622G>T c.2446G>T (p.Val816Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302233T>A | CA356178582 | WFS1 | c.2474T>A (p.Val825Glu) c.2415T>A c.2438T>A (p.Val813Glu) c.2189T>A (p.Val730Glu) n.2623T>A c.2447T>A (p.Val816Glu) | |
4 | g.6302233T>C | CA356178583 | WFS1 | c.2474T>C (p.Val825Ala) c.2415T>C c.2438T>C (p.Val813Ala) c.2189T>C (p.Val730Ala) n.2623T>C c.2447T>C (p.Val816Ala) | |
4 | g.6302233T>G | CA356178584 | WFS1 | c.2474T>G (p.Val825Gly) c.2415T>G c.2438T>G (p.Val813Gly) c.2189T>G (p.Val730Gly) n.2623T>G c.2447T>G (p.Val816Gly) | |
4 | g.6302234G>A | CA438368308 | WFS1 | c.2475G>A (p.Val825=) c.2416G>A c.2439G>A (p.Val813=) c.2190G>A (p.Val730=) n.2624G>A c.2448G>A (p.Val816=) | |
4 | g.6302234G>C | CA438368307 | WFS1 | c.2475G>C (p.Val825=) c.2416G>C c.2439G>C (p.Val813=) c.2190G>C (p.Val730=) n.2624G>C c.2448G>C (p.Val816=) | dbSNP gnomAD v4 |
4 | g.6302234G= | CA1435772505 | WFS1 | c.2475G= (p.Val825=) c.2416G= c.2439G= (p.Val813=) c.2190G= (p.Val730=) n.2624G= c.2448G= (p.Val816=) | |
4 | g.6302234G>T | CA438368306 | WFS1 | c.2475G>T (p.Val825=) c.2416G>T c.2439G>T (p.Val813=) c.2190G>T (p.Val730=) n.2624G>T c.2448G>T (p.Val816=) | gnomAD v4 |
4 | g.6302235C>A | CA356178585 | WFS1 | c.2476C>A (p.Leu826Met) c.2417C>A c.2440C>A (p.Leu814Met) c.2191C>A (p.Leu731Met) n.2625C>A c.2449C>A (p.Leu817Met) | gnomAD v4 |
4 | g.6302235C>G | CA356178586 | WFS1 | c.2476C>G (p.Leu826Val) c.2417C>G c.2440C>G (p.Leu814Val) c.2191C>G (p.Leu731Val) n.2625C>G c.2449C>G (p.Leu817Val) | |
4 | g.6302235C>T | CA438368309 | WFS1 | c.2476C>T (p.Leu826=) c.2417C>T c.2440C>T (p.Leu814=) c.2191C>T (p.Leu731=) n.2625C>T c.2449C>T (p.Leu817=) | gnomAD v4 |
4 | g.6302236T>A | CA356178587 | WFS1 | c.2477T>A (p.Leu826Gln) c.2418T>A c.2441T>A (p.Leu814Gln) c.2192T>A (p.Leu731Gln) n.2626T>A c.2450T>A (p.Leu817Gln) | |
4 | g.6302236T>C | CA356178588 | WFS1 | c.2477T>C (p.Leu826Pro) c.2418T>C c.2441T>C (p.Leu814Pro) c.2192T>C (p.Leu731Pro) n.2626T>C c.2450T>C (p.Leu817Pro) | |
4 | g.6302236T>G | CA356178589 | WFS1 | c.2477T>G (p.Leu826Arg) c.2418T>G c.2441T>G (p.Leu814Arg) c.2192T>G (p.Leu731Arg) n.2626T>G c.2450T>G (p.Leu817Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302236T= | CA1435772506 | WFS1 | c.2477T= (p.Leu826=) c.2418T= c.2441T= (p.Leu814=) c.2192T= (p.Leu731=) n.2626T= c.2450T= (p.Leu817=) | |
4 | g.6302237G>A | CA438368310 | WFS1 | c.2478G>A (p.Leu826=) c.2419G>A c.2442G>A (p.Leu814=) c.2193G>A (p.Leu731=) n.2627G>A c.2451G>A (p.Leu817=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302237G>C | CA438368311 | WFS1 | c.2478G>C (p.Leu826=) c.2419G>C c.2442G>C (p.Leu814=) c.2193G>C (p.Leu731=) n.2627G>C c.2451G>C (p.Leu817=) | gnomAD v4 |
4 | g.6302237G= | CA1435772507 | WFS1 | c.2478G= (p.Leu826=) c.2419G= c.2442G= (p.Leu814=) c.2193G= (p.Leu731=) n.2627G= c.2451G= (p.Leu817=) | |
4 | g.6302237G>T | CA438368312 | WFS1 | c.2478G>T (p.Leu826=) c.2419G>T c.2442G>T (p.Leu814=) c.2193G>T (p.Leu731=) n.2627G>T c.2451G>T (p.Leu817=) | |
4 | g.6302238C>A | CA356178592 | WFS1 | c.2479C>A (p.Leu827Ile) c.2420C>A c.2443C>A (p.Leu815Ile) c.2194C>A (p.Leu732Ile) n.2628C>A c.2452C>A (p.Leu818Ile) | |
4 | g.6302238C= | CA1435772509 | WFS1 | c.2479C= (p.Leu827=) c.2420C= c.2443C= (p.Leu815=) c.2194C= (p.Leu732=) n.2628C= c.2452C= (p.Leu818=) | |
4 | g.6302238C>G | CA356178591 | WFS1 | c.2479C>G (p.Leu827Val) c.2420C>G c.2443C>G (p.Leu815Val) c.2194C>G (p.Leu732Val) n.2628C>G c.2452C>G (p.Leu818Val) | |
4 | g.6302238C>T | CA356178590 | WFS1 | c.2479C>T (p.Leu827Phe) c.2420C>T c.2443C>T (p.Leu815Phe) c.2194C>T (p.Leu732Phe) n.2628C>T c.2452C>T (p.Leu818Phe) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302239T>A | CA356178593 | WFS1 | c.2480T>A (p.Leu827His) c.2421T>A c.2444T>A (p.Leu815His) c.2195T>A (p.Leu732His) n.2629T>A c.2453T>A (p.Leu818His) | |
4 | g.6302239T>C | CA356178594 | WFS1 | c.2480T>C (p.Leu827Pro) c.2421T>C c.2444T>C (p.Leu815Pro) c.2195T>C (p.Leu732Pro) n.2629T>C c.2453T>C (p.Leu818Pro) | |
4 | g.6302239T>G | CA356178595 | WFS1 | c.2480T>G (p.Leu827Arg) c.2421T>G c.2444T>G (p.Leu815Arg) c.2195T>G (p.Leu732Arg) n.2629T>G c.2453T>G (p.Leu818Arg) | gnomAD v4 |
4 | g.6302239_6302240insG | CA2554158005 | WFS1 | c.2480_2481insG (p.Ser828GlnfsTer?) c.2421_2422insG c.2444_2445insG (p.Ser816GlnfsTer?) c.2195_2196insG (p.Ser733GlnfsTer?) n.2629_2630insG c.2453_2454insG (p.Ser819GlnfsTer?) | |
4 | g.6302240C>A | CA2839738 | WFS1 | c.2481C>A (p.Leu827=) c.2422C>A c.2445C>A (p.Leu815=) c.2196C>A (p.Leu732=) n.2630C>A c.2454C>A (p.Leu818=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302240C= | CA1435772511 | WFS1 | c.2481C= (p.Leu827=) c.2422C= c.2445C= (p.Leu815=) c.2196C= (p.Leu732=) n.2630C= c.2454C= (p.Leu818=) | |
4 | g.6302240C>G | CA2839739 | WFS1 | c.2481C>G (p.Leu827=) c.2422C>G c.2445C>G (p.Leu815=) c.2196C>G (p.Leu732=) n.2630C>G c.2454C>G (p.Leu818=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302240C>T | CA2839740 | WFS1 | c.2481C>T (p.Leu827=) c.2422C>T c.2445C>T (p.Leu815=) c.2196C>T (p.Leu732=) n.2630C>T c.2454C>T (p.Leu818=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302240_6302241insTTTTTTA | CA2669843467 | WFS1 | c.2481_2482insTTTTTTA (p.Ser828PhefsTer?) c.2422_2423insTTTTTTA c.2445_2446insTTTTTTA (p.Ser816PhefsTer?) c.2196_2197insTTTTTTA (p.Ser733PhefsTer?) n.2630_2631insTTTTTTA c.2454_2455insTTTTTTA (p.Ser819PhefsTer?) | gnomAD v4 |
4 | g.6302241A= | CA1435772514 | WFS1 | c.2482A= (p.Ser828=) c.2423A= c.2446A= (p.Ser816=) c.2197A= (p.Ser733=) n.2631A= c.2455A= (p.Ser819=) | |
4 | g.6302241A>C | CA2839742 | WFS1 | c.2482A>C (p.Ser828Arg) c.2423A>C c.2446A>C (p.Ser816Arg) c.2197A>C (p.Ser733Arg) n.2631A>C c.2455A>C (p.Ser819Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302241A>G | CA2839741 | WFS1 | c.2482A>G (p.Ser828Gly) c.2423A>G c.2446A>G (p.Ser816Gly) c.2197A>G (p.Ser733Gly) n.2631A>G c.2455A>G (p.Ser819Gly) | dbSNP ExAC gnomAD v2 |
4 | g.6302241A>T | CA356178596 | WFS1 | c.2482A>T (p.Ser828Cys) c.2423A>T c.2446A>T (p.Ser816Cys) c.2197A>T (p.Ser733Cys) n.2631A>T c.2455A>T (p.Ser819Cys) | |
4 | g.6302242del | CA2524291021 | WFS1 | c.2483del (p.Ser828ThrfsTer?) c.2424del c.2447del (p.Ser816ThrfsTer?) c.2198del (p.Ser733ThrfsTer?) n.2632del c.2456del (p.Ser819ThrfsTer?) | |
4 | g.6302242G>A | CA356178597 | WFS1 | c.2483G>A (p.Ser828Asn) c.2424G>A c.2447G>A (p.Ser816Asn) c.2198G>A (p.Ser733Asn) n.2632G>A c.2456G>A (p.Ser819Asn) | |
4 | g.6302242G>C | CA356178598 | WFS1 | c.2483G>C (p.Ser828Thr) c.2424G>C c.2447G>C (p.Ser816Thr) c.2198G>C (p.Ser733Thr) n.2632G>C c.2456G>C (p.Ser819Thr) | |
4 | g.6302242G>T | CA356178599 | WFS1 | c.2483G>T (p.Ser828Ile) c.2424G>T c.2447G>T (p.Ser816Ile) c.2198G>T (p.Ser733Ile) n.2632G>T c.2456G>T (p.Ser819Ile) | |
4 | g.6302242_6302244del | CA2669843468 | WFS1 | c.2483_2485del (p.Ser828_Leu829delinsMet) c.2424_2426del c.2447_2449del (p.Ser816_Leu817delinsMet) c.2198_2200del (p.Ser733_Leu734delinsMet) n.2632_2634del c.2456_2458del (p.Ser819_Leu820delinsMet) | gnomAD v4 |
4 | g.6302243C>A | CA356178600 | WFS1 | c.2484C>A (p.Ser828Arg) c.2425C>A c.2448C>A (p.Ser816Arg) c.2199C>A (p.Ser733Arg) n.2633C>A c.2457C>A (p.Ser819Arg) | |
4 | g.6302243C= | CA1435772516 | WFS1 | c.2484C= (p.Ser828=) c.2425C= c.2448C= (p.Ser816=) c.2199C= (p.Ser733=) n.2633C= c.2457C= (p.Ser819=) | |
4 | g.6302243C>G | CA356178601 | WFS1 | c.2484C>G (p.Ser828Arg) c.2425C>G c.2448C>G (p.Ser816Arg) c.2199C>G (p.Ser733Arg) n.2633C>G c.2457C>G (p.Ser819Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302243C>T | CA438368313 | WFS1 | c.2484C>T (p.Ser828=) c.2425C>T c.2448C>T (p.Ser816=) c.2199C>T (p.Ser733=) n.2633C>T c.2457C>T (p.Ser819=) | gnomAD v4 |
4 | g.6302244C>A | CA2839744 | WFS1 | c.2485C>A (p.Leu829Met) c.2426C>A c.2449C>A (p.Leu817Met) c.2200C>A (p.Leu734Met) n.2634C>A c.2458C>A (p.Leu820Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302244C= | CA1435772519 | WFS1 | c.2485C= (p.Leu829=) c.2426C= c.2449C= (p.Leu817=) c.2200C= (p.Leu734=) n.2634C= c.2458C= (p.Leu820=) | |
4 | g.6302244C>G | CA356178602 | WFS1 | c.2485C>G (p.Leu829Val) c.2426C>G c.2449C>G (p.Leu817Val) c.2200C>G (p.Leu734Val) n.2634C>G c.2458C>G (p.Leu820Val) | ClinVar gnomAD v4 |
4 | g.6302244C>T | CA2839743 | WFS1 | c.2485C>T (p.Leu829=) c.2426C>T c.2449C>T (p.Leu817=) c.2200C>T (p.Leu734=) n.2634C>T c.2458C>T (p.Leu820=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302245T>A | CA356178603 | WFS1 | c.2486T>A (p.Leu829Gln) c.2427T>A c.2450T>A (p.Leu817Gln) c.2201T>A (p.Leu734Gln) n.2635T>A c.2459T>A (p.Leu820Gln) | |
4 | g.6302245T>C | CA356178604 | WFS1 | c.2486T>C (p.Leu829Pro) c.2427T>C c.2450T>C (p.Leu817Pro) c.2201T>C (p.Leu734Pro) n.2635T>C c.2459T>C (p.Leu820Pro) | |
4 | g.6302245T>G | CA356178605 | WFS1 | c.2486T>G (p.Leu829Arg) c.2427T>G c.2450T>G (p.Leu817Arg) c.2201T>G (p.Leu734Arg) n.2635T>G c.2459T>G (p.Leu820Arg) | |
4 | g.6302246G>A | CA438368314 | WFS1 | c.2487G>A (p.Leu829=) c.2428G>A c.2451G>A (p.Leu817=) c.2202G>A (p.Leu734=) n.2636G>A c.2460G>A (p.Leu820=) | |
4 | g.6302246G>C | CA438368315 | WFS1 | c.2487G>C (p.Leu829=) c.2428G>C c.2451G>C (p.Leu817=) c.2202G>C (p.Leu734=) n.2636G>C c.2460G>C (p.Leu820=) | |
4 | g.6302246G>T | CA438368316 | WFS1 | c.2487G>T (p.Leu829=) c.2428G>T c.2451G>T (p.Leu817=) c.2202G>T (p.Leu734=) n.2636G>T c.2460G>T (p.Leu820=) | |
4 | g.6302246_6302247insATA | CA2669843469 | WFS1 | c.2487_2488insATA (p.Leu829_Arg830insIle) c.2428_2429insATA c.2451_2452insATA (p.Leu817_Arg818insIle) c.2202_2203insATA (p.Leu734_Arg735insIle) n.2636_2637insATA c.2460_2461insATA (p.Leu820_Arg821insIle) | gnomAD v4 |
4 | g.6302247C>A | CA356178606 | WFS1 | c.2488C>A (p.Arg830Ser) c.2429C>A c.2452C>A (p.Arg818Ser) c.2203C>A (p.Arg735Ser) n.2637C>A c.2461C>A (p.Arg821Ser) | gnomAD v4 |
4 | g.6302247C= | CA1435772520 | WFS1 | c.2488C= (p.Arg830=) c.2429C= c.2452C= (p.Arg818=) c.2203C= (p.Arg735=) n.2637C= c.2461C= (p.Arg821=) | |
4 | g.6302247C>G | CA356178607 | WFS1 | c.2488C>G (p.Arg830Gly) c.2429C>G c.2452C>G (p.Arg818Gly) c.2203C>G (p.Arg735Gly) n.2637C>G c.2461C>G (p.Arg821Gly) | |
4 | g.6302247C>T | CA289140 | WFS1 | c.2488C>T (p.Arg830Cys) c.2429C>T c.2452C>T (p.Arg818Cys) c.2203C>T (p.Arg735Cys) n.2637C>T c.2461C>T (p.Arg821Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302247_6302295delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG | CA1435772522 | WFS1 | c.2488_2536delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG (p.Arg830=) c.2429_2477delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG c.2452_2500delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG (p.Arg818=) c.2203_2251delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG (p.Arg735=) n.2637_2685delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG c.2461_2509delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG (p.Arg821=) | |
4 | g.6302247_6302248insA | CA2760271236 | WFS1 | c.2488_2489insA (p.Arg830GlnfsTer?) c.2429_2430insA c.2452_2453insA (p.Arg818GlnfsTer?) c.2203_2204insA (p.Arg735GlnfsTer?) n.2637_2638insA c.2461_2462insA (p.Arg821GlnfsTer?) | |
4 | g.6302248G>A | CA321767 | WFS1 | c.2489G>A (p.Arg830His) c.2430G>A c.2453G>A (p.Arg818His) c.2204G>A (p.Arg735His) n.2638G>A c.2462G>A (p.Arg821His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302248G>C | CA356178608 | WFS1 | c.2489G>C (p.Arg830Pro) c.2430G>C c.2453G>C (p.Arg818Pro) c.2204G>C (p.Arg735Pro) n.2638G>C c.2462G>C (p.Arg821Pro) | |
4 | g.6302248G= | CA1435772524 | WFS1 | c.2489G= (p.Arg830=) c.2430G= c.2453G= (p.Arg818=) c.2204G= (p.Arg735=) n.2638G= c.2462G= (p.Arg821=) | |
4 | g.6302248G>T | CA356178609 | WFS1 | c.2489G>T (p.Arg830Leu) c.2430G>T c.2453G>T (p.Arg818Leu) c.2204G>T (p.Arg735Leu) n.2638G>T c.2462G>T (p.Arg821Leu) | gnomAD v4 |
4 | g.6302249_6302253del | CA2669843470 | WFS1 | c.2490_2494del (p.Gly832ProfsTer?) c.2431_2435del c.2454_2458del (p.Gly820ProfsTer?) c.2205_2209del (p.Gly737ProfsTer?) n.2639_2643del c.2463_2467del (p.Gly823ProfsTer?) | gnomAD v4 |
4 | g.6302250_6302297del | CA1435772523 | WFS1 | c.2491_2538del (p.Gln831_Gly846del) c.2432_2479del c.2455_2502del (p.Gln819_Gly834del) c.2206_2253del (p.Gln736_Gly751del) n.2640_2687del c.2464_2511del (p.Gln822_Gly837del) | ClinVar dbSNP gnomAD v4 |
4 | g.6302248_6302249insAGT | CA2760271237 | WFS1 | c.2489_2490insAGT (p.Arg830_Gln831insVal) c.2430_2431insAGT c.2453_2454insAGT (p.Arg818_Gln819insVal) c.2204_2205insAGT (p.Arg735_Gln736insVal) n.2638_2639insAGT c.2462_2463insAGT (p.Arg821_Gln822insVal) | |
4 | g.6302249C>A | CA438368318 | WFS1 | c.2490C>A (p.Arg830=) c.2431C>A c.2454C>A (p.Arg818=) c.2205C>A (p.Arg735=) n.2639C>A c.2463C>A (p.Arg821=) | |
4 | g.6302249C= | CA1435772526 | WFS1 | c.2490C= (p.Arg830=) c.2431C= c.2454C= (p.Arg818=) c.2205C= (p.Arg735=) n.2639C= c.2463C= (p.Arg821=) | |
4 | g.6302249C>G | CA438368317 | WFS1 | c.2490C>G (p.Arg830=) c.2431C>G c.2454C>G (p.Arg818=) c.2205C>G (p.Arg735=) n.2639C>G c.2463C>G (p.Arg821=) | |
4 | g.6302249C>T | CA182630 | WFS1 | c.2490C>T (p.Arg830=) c.2431C>T c.2454C>T (p.Arg818=) c.2205C>T (p.Arg735=) n.2639C>T c.2463C>T (p.Arg821=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302250C>A | CA356178610 | WFS1 | c.2491C>A (p.Gln831Lys) c.2432C>A c.2455C>A (p.Gln819Lys) c.2206C>A (p.Gln736Lys) n.2640C>A c.2464C>A (p.Gln822Lys) | |
4 | g.6302250C= | CA1435772528 | WFS1 | c.2491C= (p.Gln831=) c.2432C= c.2455C= (p.Gln819=) c.2206C= (p.Gln736=) n.2640C= c.2464C= (p.Gln822=) | |
4 | g.6302250C>G | CA356178611 | WFS1 | c.2491C>G (p.Gln831Glu) c.2432C>G c.2455C>G (p.Gln819Glu) c.2206C>G (p.Gln736Glu) n.2640C>G c.2464C>G (p.Gln822Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302250C>T | CA253194 | WFS1 | c.2491C>T (p.Gln831Ter) c.2432C>T c.2455C>T (p.Gln819Ter) c.2206C>T (p.Gln736Ter) n.2640C>T c.2464C>T (p.Gln822Ter) | ClinVar dbSNP |
4 | g.6302251A= | CA1435772531 | WFS1 | c.2492A= (p.Gln831=) c.2433A= c.2456A= (p.Gln819=) c.2207A= (p.Gln736=) n.2641A= c.2465A= (p.Gln822=) | |
4 | g.6302251A>C | CA356178614 | WFS1 | c.2492A>C (p.Gln831Pro) c.2433A>C c.2456A>C (p.Gln819Pro) c.2207A>C (p.Gln736Pro) n.2641A>C c.2465A>C (p.Gln822Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302251A>G | CA356178612 | WFS1 | c.2492A>G (p.Gln831Arg) c.2433A>G c.2456A>G (p.Gln819Arg) c.2207A>G (p.Gln736Arg) n.2641A>G c.2465A>G (p.Gln822Arg) | dbSNP gnomAD v4 |
4 | g.6302251A>T | CA356178613 | WFS1 | c.2492A>T (p.Gln831Leu) c.2433A>T c.2456A>T (p.Gln819Leu) c.2207A>T (p.Gln736Leu) n.2641A>T c.2465A>T (p.Gln822Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302252G>A | CA438368319 | WFS1 | c.2493G>A (p.Gln831=) c.2434G>A c.2457G>A (p.Gln819=) c.2208G>A (p.Gln736=) n.2642G>A c.2466G>A (p.Gln822=) | dbSNP gnomAD v2 |
4 | g.6302252G>C | CA356178615 | WFS1 | c.2493G>C (p.Gln831His) c.2434G>C c.2457G>C (p.Gln819His) c.2208G>C (p.Gln736His) n.2642G>C c.2466G>C (p.Gln822His) | |
4 | g.6302252G= | CA1435772532 | WFS1 | c.2493G= (p.Gln831=) c.2434G= c.2457G= (p.Gln819=) c.2208G= (p.Gln736=) n.2642G= c.2466G= (p.Gln822=) | |
4 | g.6302252G>T | CA356178616 | WFS1 | c.2493G>T (p.Gln831His) c.2434G>T c.2457G>T (p.Gln819His) c.2208G>T (p.Gln736His) n.2642G>T c.2466G>T (p.Gln822His) | |
4 | g.6302253G>A | CA356178617 | WFS1 | c.2494G>A (p.Gly832Ser) c.2435G>A c.2458G>A (p.Gly820Ser) c.2209G>A (p.Gly737Ser) n.2643G>A c.2467G>A (p.Gly823Ser) | |
4 | g.6302253G>C | CA2839745 | WFS1 | c.2494G>C (p.Gly832Arg) c.2435G>C c.2458G>C (p.Gly820Arg) c.2209G>C (p.Gly737Arg) n.2643G>C c.2467G>C (p.Gly823Arg) | dbSNP ExAC gnomAD v2 |
4 | g.6302253G= | CA1435772534 | WFS1 | c.2494G= (p.Gly832=) c.2435G= c.2458G= (p.Gly820=) c.2209G= (p.Gly737=) n.2643G= c.2467G= (p.Gly823=) | |
4 | g.6302253G>T | CA356178618 | WFS1 | c.2494G>T (p.Gly832Cys) c.2435G>T c.2458G>T (p.Gly820Cys) c.2209G>T (p.Gly737Cys) n.2643G>T c.2467G>T (p.Gly823Cys) | |
4 | g.6302254G>A | CA2839747 | WFS1 | c.2495G>A (p.Gly832Asp) c.2436G>A c.2459G>A (p.Gly820Asp) c.2210G>A (p.Gly737Asp) n.2644G>A c.2468G>A (p.Gly823Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302254G>C | CA356178619 | WFS1 | c.2495G>C (p.Gly832Ala) c.2436G>C c.2459G>C (p.Gly820Ala) c.2210G>C (p.Gly737Ala) n.2644G>C c.2468G>C (p.Gly823Ala) | |
4 | g.6302254G= | CA1435772535 | WFS1 | c.2495G= (p.Gly832=) c.2436G= c.2459G= (p.Gly820=) c.2210G= (p.Gly737=) n.2644G= c.2468G= (p.Gly823=) | |
4 | g.6302254G>T | CA2839746 | WFS1 | c.2495G>T (p.Gly832Val) c.2436G>T c.2459G>T (p.Gly820Val) c.2210G>T (p.Gly737Val) n.2644G>T c.2468G>T (p.Gly823Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302254_6302255insA | CA2760271238 | WFS1 | c.2495_2496insA (p.Ser833GlnfsTer?) c.2436_2437insA c.2459_2460insA (p.Ser821GlnfsTer?) c.2210_2211insA (p.Ser738GlnfsTer?) n.2644_2645insA c.2468_2469insA (p.Ser824GlnfsTer?) | |
4 | g.6302255C>A | CA438368320 | WFS1 | c.2496C>A (p.Gly832=) c.2437C>A c.2460C>A (p.Gly820=) c.2211C>A (p.Gly737=) n.2645C>A c.2469C>A (p.Gly823=) | |
4 | g.6302255C>G | CA438368321 | WFS1 | c.2496C>G (p.Gly832=) c.2437C>G c.2460C>G (p.Gly820=) c.2211C>G (p.Gly737=) n.2645C>G c.2469C>G (p.Gly823=) | |
4 | g.6302255C>T | CA438368322 | WFS1 | c.2496C>T (p.Gly832=) c.2437C>T c.2460C>T (p.Gly820=) c.2211C>T (p.Gly737=) n.2645C>T c.2469C>T (p.Gly823=) | |
4 | g.6302256del | CA2669843471 | WFS1 | c.2497del (p.Ser833AlafsTer?) c.2438del c.2461del (p.Ser821AlafsTer?) c.2212del (p.Ser738AlafsTer?) n.2646del c.2470del (p.Ser824AlafsTer?) | gnomAD v4 |
4 | g.6302256A>C | CA356178620 | WFS1 | c.2497A>C (p.Ser833Arg) c.2438A>C c.2461A>C (p.Ser821Arg) c.2212A>C (p.Ser738Arg) n.2646A>C c.2470A>C (p.Ser824Arg) | |
4 | g.6302256A>G | CA356178621 | WFS1 | c.2497A>G (p.Ser833Gly) c.2438A>G c.2461A>G (p.Ser821Gly) c.2212A>G (p.Ser738Gly) n.2646A>G c.2470A>G (p.Ser824Gly) | gnomAD v4 |
4 | g.6302256A>T | CA356178622 | WFS1 | c.2497A>T (p.Ser833Cys) c.2438A>T c.2461A>T (p.Ser821Cys) c.2212A>T (p.Ser738Cys) n.2646A>T c.2470A>T (p.Ser824Cys) | |
4 | g.6302257G>A | CA356178625 | WFS1 | c.2498G>A (p.Ser833Asn) c.2439G>A c.2462G>A (p.Ser821Asn) c.2213G>A (p.Ser738Asn) n.2647G>A c.2471G>A (p.Ser824Asn) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302257G>C | CA356178624 | WFS1 | c.2498G>C (p.Ser833Thr) c.2439G>C c.2462G>C (p.Ser821Thr) c.2213G>C (p.Ser738Thr) n.2647G>C c.2471G>C (p.Ser824Thr) | |
4 | g.6302257G= | CA1435772537 | WFS1 | c.2498G= (p.Ser833=) c.2439G= c.2462G= (p.Ser821=) c.2213G= (p.Ser738=) n.2647G= c.2471G= (p.Ser824=) | |
4 | g.6302257G>T | CA356178623 | WFS1 | c.2498G>T (p.Ser833Ile) c.2439G>T c.2462G>T (p.Ser821Ile) c.2213G>T (p.Ser738Ile) n.2647G>T c.2471G>T (p.Ser824Ile) | gnomAD v4 |
4 | g.6302258C>A | CA356178626 | WFS1 | c.2499C>A (p.Ser833Arg) c.2440C>A c.2463C>A (p.Ser821Arg) c.2214C>A (p.Ser738Arg) n.2648C>A c.2472C>A (p.Ser824Arg) | gnomAD v4 |
4 | g.6302258C= | CA1435772539 | WFS1 | c.2499C= (p.Ser833=) c.2440C= c.2463C= (p.Ser821=) c.2214C= (p.Ser738=) n.2648C= c.2472C= (p.Ser824=) | |
4 | g.6302258C>G | CA356178627 | WFS1 | c.2499C>G (p.Ser833Arg) c.2440C>G c.2463C>G (p.Ser821Arg) c.2214C>G (p.Ser738Arg) n.2648C>G c.2472C>G (p.Ser824Arg) | |
4 | g.6302258C>T | CA438368323 | WFS1 | c.2499C>T (p.Ser833=) c.2440C>T c.2463C>T (p.Ser821=) c.2214C>T (p.Ser738=) n.2648C>T c.2472C>T (p.Ser824=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302259C>A | CA356178628 | WFS1 | c.2500C>A (p.Leu834Ile) c.2441C>A c.2464C>A (p.Leu822Ile) c.2215C>A (p.Leu739Ile) n.2649C>A c.2473C>A (p.Leu825Ile) | gnomAD v4 |
4 | g.6302259C>G | CA356178629 | WFS1 | c.2500C>G (p.Leu834Val) c.2441C>G c.2464C>G (p.Leu822Val) c.2215C>G (p.Leu739Val) n.2649C>G c.2473C>G (p.Leu825Val) | |
4 | g.6302259C>T | CA356178630 | WFS1 | c.2500C>T (p.Leu834Phe) c.2441C>T c.2464C>T (p.Leu822Phe) c.2215C>T (p.Leu739Phe) n.2649C>T c.2473C>T (p.Leu825Phe) | |
4 | g.6302259_6302260delinsCT | CA1435772541 | WFS1 | c.2500_2501delinsCT (p.Leu834=) c.2441_2442delinsCT c.2464_2465delinsCT (p.Leu822=) c.2215_2216delinsCT (p.Leu739=) n.2649_2650delinsCT c.2473_2474delinsCT (p.Leu825=) | |
4 | g.6302260_6302261dup | CA917120731 | WFS1 | c.2501_2502dup (p.Ile835SerfsTer?) c.2442_2443dup c.2465_2466dup (p.Ile823SerfsTer?) c.2216_2217dup (p.Ile740SerfsTer?) n.2650_2651dup c.2474_2475dup (p.Ile826SerfsTer?) | dbSNP |
4 | g.6302260del | CA549707949 | WFS1 | c.2501del (p.Leu834ProfsTer?) c.2442del c.2465del (p.Leu822ProfsTer?) c.2216del (p.Leu739ProfsTer?) n.2650del c.2474del (p.Leu825ProfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302260T>A | CA356178631 | WFS1 | c.2501T>A (p.Leu834His) c.2442T>A c.2465T>A (p.Leu822His) c.2216T>A (p.Leu739His) n.2650T>A c.2474T>A (p.Leu825His) | |
4 | g.6302260T>C | CA356178632 | WFS1 | c.2501T>C (p.Leu834Pro) c.2442T>C c.2465T>C (p.Leu822Pro) c.2216T>C (p.Leu739Pro) n.2650T>C c.2474T>C (p.Leu825Pro) | |
4 | g.6302260T>G | CA356178633 | WFS1 | c.2501T>G (p.Leu834Arg) c.2442T>G c.2465T>G (p.Leu822Arg) c.2216T>G (p.Leu739Arg) n.2650T>G c.2474T>G (p.Leu825Arg) | |
4 | g.6302262_6302264del | CA2586973652 | WFS1 | c.2503_2505del (p.Ile835del) c.2444_2446del c.2467_2469del (p.Ile823del) c.2218_2220del (p.Ile740del) n.2652_2654del c.2476_2478del (p.Ile826del) | |
4 | g.6302261C>A | CA2839749 | WFS1 | c.2502C>A (p.Leu834=) c.2443C>A c.2466C>A (p.Leu822=) c.2217C>A (p.Leu739=) n.2651C>A c.2475C>A (p.Leu825=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302261C= | CA1435772544 | WFS1 | c.2502C= (p.Leu834=) c.2443C= c.2466C= (p.Leu822=) c.2217C= (p.Leu739=) n.2651C= c.2475C= (p.Leu825=) | |
4 | g.6302261C>G | CA438368324 | WFS1 | c.2502C>G (p.Leu834=) c.2443C>G c.2466C>G (p.Leu822=) c.2217C>G (p.Leu739=) n.2651C>G c.2475C>G (p.Leu825=) | |
4 | g.6302261C>T | CA2839748 | WFS1 | c.2502C>T (p.Leu834=) c.2443C>T c.2466C>T (p.Leu822=) c.2217C>T (p.Leu739=) n.2651C>T c.2475C>T (p.Leu825=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302261_6302262delinsCA | CA1435772545 | WFS1 | c.2502_2503delinsCA (p.Leu834=) c.2443_2444delinsCA c.2466_2467delinsCA (p.Leu822=) c.2217_2218delinsCA (p.Leu739=) n.2651_2652delinsCA c.2475_2476delinsCA (p.Leu825=) | |
4 | g.6302262del | CA917120736 | WFS1 | c.2503del (p.Ile835SerfsTer?) c.2444del c.2467del (p.Ile823SerfsTer?) c.2218del (p.Ile740SerfsTer?) n.2652del c.2476del (p.Ile826SerfsTer?) | dbSNP |
4 | g.6302262A>C | CA356178634 | WFS1 | c.2503A>C (p.Ile835Leu) c.2444A>C c.2467A>C (p.Ile823Leu) c.2218A>C (p.Ile740Leu) n.2652A>C c.2476A>C (p.Ile826Leu) | |
4 | g.6302262A>G | CA356178635 | WFS1 | c.2503A>G (p.Ile835Val) c.2444A>G c.2467A>G (p.Ile823Val) c.2218A>G (p.Ile740Val) n.2652A>G c.2476A>G (p.Ile826Val) | |
4 | g.6302262A>T | CA356178636 | WFS1 | c.2503A>T (p.Ile835Phe) c.2444A>T c.2467A>T (p.Ile823Phe) c.2218A>T (p.Ile740Phe) n.2652A>T c.2476A>T (p.Ile826Phe) | gnomAD v4 |
4 | g.6302263T>A | CA356178639 | WFS1 | c.2504T>A (p.Ile835Asn) c.2445T>A c.2468T>A (p.Ile823Asn) c.2219T>A (p.Ile740Asn) n.2653T>A c.2477T>A (p.Ile826Asn) | |
4 | g.6302263T>C | CA356178638 | WFS1 | c.2504T>C (p.Ile835Thr) c.2445T>C c.2468T>C (p.Ile823Thr) c.2219T>C (p.Ile740Thr) n.2653T>C c.2477T>C (p.Ile826Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302263T>G | CA356178637 | WFS1 | c.2504T>G (p.Ile835Ser) c.2445T>G c.2468T>G (p.Ile823Ser) c.2219T>G (p.Ile740Ser) n.2653T>G c.2477T>G (p.Ile826Ser) | |
4 | g.6302263T= | CA1435772548 | WFS1 | c.2504T= (p.Ile835=) c.2445T= c.2468T= (p.Ile823=) c.2219T= (p.Ile740=) n.2653T= c.2477T= (p.Ile826=) | |
4 | g.6302264C>A | CA438368325 | WFS1 | c.2505C>A (p.Ile835=) c.2446C>A c.2469C>A (p.Ile823=) c.2220C>A (p.Ile740=) n.2654C>A c.2478C>A (p.Ile826=) | |
4 | g.6302264C= | CA1435772550 | WFS1 | c.2505C= (p.Ile835=) c.2446C= c.2469C= (p.Ile823=) c.2220C= (p.Ile740=) n.2654C= c.2478C= (p.Ile826=) | |
4 | g.6302264C>G | CA2839750 | WFS1 | c.2505C>G (p.Ile835Met) c.2446C>G c.2469C>G (p.Ile823Met) c.2220C>G (p.Ile740Met) n.2654C>G c.2478C>G (p.Ile826Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302264C>T | CA289144 | WFS1 | c.2505C>T (p.Ile835=) c.2446C>T c.2469C>T (p.Ile823=) c.2220C>T (p.Ile740=) n.2654C>T c.2478C>T (p.Ile826=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302265del | CA2760271239 | WFS1 | c.2506del (p.Glu836SerfsTer?) c.2447del c.2470del (p.Glu824SerfsTer?) c.2221del (p.Glu741SerfsTer?) n.2655del c.2479del (p.Glu827SerfsTer?) | |
4 | g.6302265G>A | CA179683 | WFS1 | c.2506G>A (p.Glu836Lys) c.2447G>A c.2470G>A (p.Glu824Lys) c.2221G>A (p.Glu741Lys) n.2655G>A c.2479G>A (p.Glu827Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302265G>C | CA356178640 | WFS1 | c.2506G>C (p.Glu836Gln) c.2447G>C c.2470G>C (p.Glu824Gln) c.2221G>C (p.Glu741Gln) n.2655G>C c.2479G>C (p.Glu827Gln) | |
4 | g.6302265G= | CA1435772552 | WFS1 | c.2506G= (p.Glu836=) c.2447G= c.2470G= (p.Glu824=) c.2221G= (p.Glu741=) n.2655G= c.2479G= (p.Glu827=) | |
4 | g.6302265G>T | CA356178641 | WFS1 | c.2506G>T (p.Glu836Ter) c.2447G>T c.2470G>T (p.Glu824Ter) c.2221G>T (p.Glu741Ter) n.2655G>T c.2479G>T (p.Glu827Ter) | gnomAD v4 |
4 | g.6302266A>C | CA356178642 | WFS1 | c.2507A>C (p.Glu836Ala) c.2448A>C c.2471A>C (p.Glu824Ala) c.2222A>C (p.Glu741Ala) n.2656A>C c.2480A>C (p.Glu827Ala) | |
4 | g.6302266A>G | CA356178643 | WFS1 | c.2507A>G (p.Glu836Gly) c.2448A>G c.2471A>G (p.Glu824Gly) c.2222A>G (p.Glu741Gly) n.2656A>G c.2480A>G (p.Glu827Gly) | |
4 | g.6302266A>T | CA356178644 | WFS1 | c.2507A>T (p.Glu836Val) c.2448A>T c.2471A>T (p.Glu824Val) c.2222A>T (p.Glu741Val) n.2656A>T c.2480A>T (p.Glu827Val) |