Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
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) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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.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) | 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=) | 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) |