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.6302163T>A | CA356178449 | WFS1 | c.2404T>A (p.Ser802Thr) c.2345T>A c.2368T>A (p.Ser790Thr) c.2119T>A (p.Ser707Thr) n.2553T>A c.2377T>A (p.Ser793Thr) | |
4 | g.6302163T>C | CA356178450 | WFS1 | c.2404T>C (p.Ser802Pro) c.2345T>C c.2368T>C (p.Ser790Pro) c.2119T>C (p.Ser707Pro) n.2553T>C c.2377T>C (p.Ser793Pro) | |
4 | g.6302163T>G | CA356178451 | WFS1 | c.2404T>G (p.Ser802Ala) c.2345T>G c.2368T>G (p.Ser790Ala) c.2119T>G (p.Ser707Ala) n.2553T>G c.2377T>G (p.Ser793Ala) | |
4 | g.6302164C>A | CA277064 | WFS1 | c.2405C>A (p.Ser802Ter) c.2346C>A c.2369C>A (p.Ser790Ter) c.2120C>A (p.Ser707Ter) n.2554C>A c.2378C>A (p.Ser793Ter) | ClinVar dbSNP |
4 | g.6302164C= | CA1435772416 | WFS1 | c.2405C= (p.Ser802=) c.2346C= c.2369C= (p.Ser790=) c.2120C= (p.Ser707=) n.2554C= c.2378C= (p.Ser793=) | |
4 | g.6302164C>G | CA295582 | WFS1 | c.2405C>G (p.Ser802Trp) c.2346C>G c.2369C>G (p.Ser790Trp) c.2120C>G (p.Ser707Trp) n.2554C>G c.2378C>G (p.Ser793Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302164C>T | CA2839705 | WFS1 | c.2405C>T (p.Ser802Leu) c.2346C>T c.2369C>T (p.Ser790Leu) c.2120C>T (p.Ser707Leu) n.2554C>T c.2378C>T (p.Ser793Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302165G>A | CA2839706 | WFS1 | c.2406G>A (p.Ser802=) c.2347G>A c.2370G>A (p.Ser790=) c.2121G>A (p.Ser707=) n.2555G>A c.2379G>A (p.Ser793=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302165G>C | CA2839707 | WFS1 | c.2406G>C (p.Ser802=) c.2347G>C c.2370G>C (p.Ser790=) c.2121G>C (p.Ser707=) n.2555G>C c.2379G>C (p.Ser793=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302165G= | CA1435772420 | WFS1 | c.2406G= (p.Ser802=) c.2347G= c.2370G= (p.Ser790=) c.2121G= (p.Ser707=) n.2555G= c.2379G= (p.Ser793=) | |
4 | g.6302165G>T | CA438368276 | WFS1 | c.2406G>T (p.Ser802=) c.2347G>T c.2370G>T (p.Ser790=) c.2121G>T (p.Ser707=) n.2555G>T c.2379G>T (p.Ser793=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
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=) |