Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.6302267_6302272del | CA2760271240 | WFS1 | c.2508_2513del (p.Glu836_Ser838delinsAsp) c.2449_2454del c.2472_2477del (p.Glu824_Ser826delinsAsp) c.2223_2228del (p.Glu741_Ser743delinsAsp) n.2657_2662del c.2481_2486del (p.Glu827_Ser829delinsAsp) | |
4 | g.6302269dup | CA645523671 | WFS1 | c.2510dup (p.Ser838GlnfsTer?) c.2451dup c.2474dup (p.Ser826GlnfsTer?) c.2225dup (p.Ser743GlnfsTer?) n.2659dup c.2483dup (p.Ser829GlnfsTer?) | COSMIC |
4 | g.6302269T>A | CA356178651 | WFS1 | c.2510T>A (p.Phe837Tyr) c.2451T>A c.2474T>A (p.Phe825Tyr) c.2225T>A (p.Phe742Tyr) n.2659T>A c.2483T>A (p.Phe828Tyr) | |
4 | g.6302269T>C | CA356178652 | WFS1 | c.2510T>C (p.Phe837Ser) c.2451T>C c.2474T>C (p.Phe825Ser) c.2225T>C (p.Phe742Ser) n.2659T>C c.2483T>C (p.Phe828Ser) | |
4 | g.6302269T>G | CA356178650 | WFS1 | c.2510T>G (p.Phe837Cys) c.2451T>G c.2474T>G (p.Phe825Cys) c.2225T>G (p.Phe742Cys) n.2659T>G c.2483T>G (p.Phe828Cys) | |
4 | g.6302270C>A | CA356178653 | WFS1 | c.2511C>A (p.Phe837Leu) c.2452C>A c.2475C>A (p.Phe825Leu) c.2226C>A (p.Phe742Leu) n.2660C>A c.2484C>A (p.Phe828Leu) | |
4 | g.6302270C>G | CA356178654 | WFS1 | c.2511C>G (p.Phe837Leu) c.2452C>G c.2475C>G (p.Phe825Leu) c.2226C>G (p.Phe742Leu) n.2660C>G c.2484C>G (p.Phe828Leu) | |
4 | g.6302270C>T | CA438368326 | WFS1 | c.2511C>T (p.Phe837=) c.2452C>T c.2475C>T (p.Phe825=) c.2226C>T (p.Phe742=) n.2660C>T c.2484C>T (p.Phe828=) | gnomAD v4 |
4 | g.6302272_6302274del | CA2578035819 | WFS1 | c.2513_2515del (p.Ser838del) c.2454_2456del c.2477_2479del (p.Ser826del) c.2228_2230del (p.Ser743del) n.2662_2664del c.2486_2488del (p.Ser829del) | |
4 | g.6302271A>C | CA356178655 | WFS1 | c.2512A>C (p.Ser838Arg) c.2453A>C c.2476A>C (p.Ser826Arg) c.2227A>C (p.Ser743Arg) n.2661A>C c.2485A>C (p.Ser829Arg) | dbSNP |
4 | g.6302271A>G | CA356178656 | WFS1 | c.2512A>G (p.Ser838Gly) c.2453A>G c.2476A>G (p.Ser826Gly) c.2227A>G (p.Ser743Gly) n.2661A>G c.2485A>G (p.Ser829Gly) | |
4 | g.6302271A>T | CA356178657 | WFS1 | c.2512A>T (p.Ser838Cys) c.2453A>T c.2476A>T (p.Ser826Cys) c.2227A>T (p.Ser743Cys) n.2661A>T c.2485A>T (p.Ser829Cys) | gnomAD v4 |
4 | g.6302272G>A | CA356178658 | WFS1 | c.2513G>A (p.Ser838Asn) c.2454G>A c.2477G>A (p.Ser826Asn) c.2228G>A (p.Ser743Asn) n.2662G>A c.2486G>A (p.Ser829Asn) | ClinVar dbSNP gnomAD v4 |
4 | g.6302272G>C | CA356178659 | WFS1 | c.2513G>C (p.Ser838Thr) c.2454G>C c.2477G>C (p.Ser826Thr) c.2228G>C (p.Ser743Thr) n.2662G>C c.2486G>C (p.Ser829Thr) | |
4 | g.6302272G= | CA1435772556 | WFS1 | c.2513G= (p.Ser838=) c.2454G= c.2477G= (p.Ser826=) c.2228G= (p.Ser743=) n.2662G= c.2486G= (p.Ser829=) | |
4 | g.6302272G>T | CA356178660 | WFS1 | c.2513G>T (p.Ser838Ile) c.2454G>T c.2477G>T (p.Ser826Ile) c.2228G>T (p.Ser743Ile) n.2662G>T c.2486G>T (p.Ser829Ile) | |
4 | g.6302273C>A | CA356178661 | WFS1 | c.2514C>A (p.Ser838Arg) c.2455C>A c.2478C>A (p.Ser826Arg) c.2229C>A (p.Ser743Arg) n.2663C>A c.2487C>A (p.Ser829Arg) | |
4 | g.6302273C= | CA1435772557 | WFS1 | c.2514C= (p.Ser838=) c.2455C= c.2478C= (p.Ser826=) c.2229C= (p.Ser743=) n.2663C= c.2487C= (p.Ser829=) | |
4 | g.6302273C>G | CA356178662 | WFS1 | c.2514C>G (p.Ser838Arg) c.2455C>G c.2478C>G (p.Ser826Arg) c.2229C>G (p.Ser743Arg) n.2663C>G c.2487C>G (p.Ser829Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302273C>T | CA438368327 | WFS1 | c.2514C>T (p.Ser838=) c.2455C>T c.2478C>T (p.Ser826=) c.2229C>T (p.Ser743=) n.2663C>T c.2487C>T (p.Ser829=) | |
4 | g.6302274A>C | CA356178663 | WFS1 | c.2515A>C (p.Thr839Pro) c.2456A>C c.2479A>C (p.Thr827Pro) c.2230A>C (p.Thr744Pro) n.2664A>C c.2488A>C (p.Thr830Pro) | |
4 | g.6302274A>G | CA356178664 | WFS1 | c.2515A>G (p.Thr839Ala) c.2456A>G c.2479A>G (p.Thr827Ala) c.2230A>G (p.Thr744Ala) n.2664A>G c.2488A>G (p.Thr830Ala) | |
4 | g.6302274A>T | CA356178665 | WFS1 | c.2515A>T (p.Thr839Ser) c.2456A>T c.2479A>T (p.Thr827Ser) c.2230A>T (p.Thr744Ser) n.2664A>T c.2488A>T (p.Thr830Ser) | |
4 | g.6302275C>A | CA356178668 | WFS1 | c.2516C>A (p.Thr839Asn) c.2457C>A c.2480C>A (p.Thr827Asn) c.2231C>A (p.Thr744Asn) n.2665C>A c.2489C>A (p.Thr830Asn) | |
4 | g.6302275C= | CA1435772558 | WFS1 | c.2516C= (p.Thr839=) c.2457C= c.2480C= (p.Thr827=) c.2231C= (p.Thr744=) n.2665C= c.2489C= (p.Thr830=) | |
4 | g.6302275C>G | CA356178666 | WFS1 | c.2516C>G (p.Thr839Ser) c.2457C>G c.2480C>G (p.Thr827Ser) c.2231C>G (p.Thr744Ser) n.2665C>G c.2489C>G (p.Thr830Ser) | |
4 | g.6302275C>T | CA356178667 | WFS1 | c.2516C>T (p.Thr839Ile) c.2457C>T c.2480C>T (p.Thr827Ile) c.2231C>T (p.Thr744Ile) n.2665C>T c.2489C>T (p.Thr830Ile) | ClinVar dbSNP |
4 | g.6302276C>A | CA438368328 | WFS1 | c.2517C>A (p.Thr839=) c.2458C>A c.2481C>A (p.Thr827=) c.2232C>A (p.Thr744=) n.2666C>A c.2490C>A (p.Thr830=) | |
4 | g.6302276C= | CA1435772559 | WFS1 | c.2517C= (p.Thr839=) c.2458C= c.2481C= (p.Thr827=) c.2232C= (p.Thr744=) n.2666C= c.2490C= (p.Thr830=) | |
4 | g.6302276C>G | CA438368329 | WFS1 | c.2517C>G (p.Thr839=) c.2458C>G c.2481C>G (p.Thr827=) c.2232C>G (p.Thr744=) n.2666C>G c.2490C>G (p.Thr830=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302276C>T | CA10618107 | WFS1 | c.2517C>T (p.Thr839=) c.2458C>T c.2481C>T (p.Thr827=) c.2232C>T (p.Thr744=) n.2666C>T c.2490C>T (p.Thr830=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302277A= | CA1435772562 | WFS1 | c.2518A= (p.Ile840=) c.2459A= c.2482A= (p.Ile828=) c.2233A= (p.Ile745=) n.2667A= c.2491A= (p.Ile831=) | |
4 | g.6302277A>C | CA356178669 | WFS1 | c.2518A>C (p.Ile840Leu) c.2459A>C c.2482A>C (p.Ile828Leu) c.2233A>C (p.Ile745Leu) n.2667A>C c.2491A>C (p.Ile831Leu) | gnomAD v4 |
4 | g.6302277A>G | CA2839752 | WFS1 | c.2518A>G (p.Ile840Val) c.2459A>G c.2482A>G (p.Ile828Val) c.2233A>G (p.Ile745Val) n.2667A>G c.2491A>G (p.Ile831Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302277A>T | CA356178670 | WFS1 | c.2518A>T (p.Ile840Phe) c.2459A>T c.2482A>T (p.Ile828Phe) c.2233A>T (p.Ile745Phe) n.2667A>T c.2491A>T (p.Ile831Phe) | |
4 | g.6302278T>A | CA356178672 | WFS1 | c.2519T>A (p.Ile840Asn) c.2460T>A c.2483T>A (p.Ile828Asn) c.2234T>A (p.Ile745Asn) n.2668T>A c.2492T>A (p.Ile831Asn) | |
4 | g.6302278T>C | CA356178674 | WFS1 | c.2519T>C (p.Ile840Thr) c.2460T>C c.2483T>C (p.Ile828Thr) c.2234T>C (p.Ile745Thr) n.2668T>C c.2492T>C (p.Ile831Thr) | gnomAD v4 |
4 | g.6302278T>G | CA356178676 | WFS1 | c.2519T>G (p.Ile840Ser) c.2460T>G c.2483T>G (p.Ile828Ser) c.2234T>G (p.Ile745Ser) n.2668T>G c.2492T>G (p.Ile831Ser) | gnomAD v4 |
4 | g.6302278delinsGGA | CA2586973653 | WFS1 | c.2519delinsGGA (p.Ile840ArgfsTer?) c.2460delinsGGA c.2483delinsGGA (p.Ile828ArgfsTer?) c.2234delinsGGA (p.Ile745ArgfsTer?) n.2668delinsGGA c.2492delinsGGA (p.Ile831ArgfsTer?) | |
4 | g.6302278_6302279insGA | CA2586973654 | WFS1 | c.2519_2520insGA (p.Ile840MetfsTer?) c.2460_2461insGA c.2483_2484insGA (p.Ile828MetfsTer?) c.2234_2235insGA (p.Ile745MetfsTer?) n.2668_2669insGA c.2492_2493insGA (p.Ile831MetfsTer?) | |
4 | g.6302279C>A | CA2839753 | WFS1 | c.2520C>A (p.Ile840=) c.2461C>A c.2484C>A (p.Ile828=) c.2235C>A (p.Ile745=) n.2669C>A c.2493C>A (p.Ile831=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302279C= | CA1435772563 | WFS1 | c.2520C= (p.Ile840=) c.2461C= c.2484C= (p.Ile828=) c.2235C= (p.Ile745=) n.2669C= c.2493C= (p.Ile831=) | |
4 | g.6302279C>G | CA356178677 | WFS1 | c.2520C>G (p.Ile840Met) c.2461C>G c.2484C>G (p.Ile828Met) c.2235C>G (p.Ile745Met) n.2669C>G c.2493C>G (p.Ile831Met) | ClinVar dbSNP gnomAD v2 |
4 | g.6302279C>T | CA438368330 | WFS1 | c.2520C>T (p.Ile840=) c.2461C>T c.2484C>T (p.Ile828=) c.2235C>T (p.Ile745=) n.2669C>T c.2493C>T (p.Ile831=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302279_6302280insA | CA2760271241 | WFS1 | c.2520_2521insA (p.Leu841ThrfsTer?) c.2461_2462insA c.2484_2485insA (p.Leu829ThrfsTer?) c.2235_2236insA (p.Leu746ThrfsTer?) n.2669_2670insA c.2493_2494insA (p.Leu832ThrfsTer?) | |
4 | g.6302280C>A | CA356178679 | WFS1 | c.2521C>A (p.Leu841Met) c.2462C>A c.2485C>A (p.Leu829Met) c.2236C>A (p.Leu746Met) n.2670C>A c.2494C>A (p.Leu832Met) | |
4 | g.6302280C= | CA1435772564 | WFS1 | c.2521C= (p.Leu841=) c.2462C= c.2485C= (p.Leu829=) c.2236C= (p.Leu746=) n.2670C= c.2494C= (p.Leu832=) | |
4 | g.6302280C>G | CA356178681 | WFS1 | c.2521C>G (p.Leu841Val) c.2462C>G c.2485C>G (p.Leu829Val) c.2236C>G (p.Leu746Val) n.2670C>G c.2494C>G (p.Leu832Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302280C>T | CA438368331 | WFS1 | c.2521C>T (p.Leu841=) c.2462C>T c.2485C>T (p.Leu829=) c.2236C>T (p.Leu746=) n.2670C>T c.2494C>T (p.Leu832=) | |
4 | g.6302281_6302291del | CA2586973655 | WFS1 | c.2522_2532del (p.Leu841ProfsTer?) c.2463_2473del c.2486_2496del (p.Leu829ProfsTer?) c.2237_2247del (p.Leu746ProfsTer?) n.2671_2681del c.2495_2505del (p.Leu832ProfsTer?) | |
4 | g.6302281T>A | CA356178683 | WFS1 | c.2522T>A (p.Leu841Gln) c.2463T>A c.2486T>A (p.Leu829Gln) c.2237T>A (p.Leu746Gln) n.2671T>A c.2495T>A (p.Leu832Gln) | |
4 | g.6302281T>C | CA253199 | WFS1 | c.2522T>C (p.Leu841Pro) c.2463T>C c.2486T>C (p.Leu829Pro) c.2237T>C (p.Leu746Pro) n.2671T>C c.2495T>C (p.Leu832Pro) | ClinVar dbSNP |
4 | g.6302281T>G | CA356178690 | WFS1 | c.2522T>G (p.Leu841Arg) c.2463T>G c.2486T>G (p.Leu829Arg) c.2237T>G (p.Leu746Arg) n.2671T>G c.2495T>G (p.Leu832Arg) | |
4 | g.6302281T= | CA1435772567 | WFS1 | c.2522T= (p.Leu841=) c.2463T= c.2486T= (p.Leu829=) c.2237T= (p.Leu746=) n.2671T= c.2495T= (p.Leu832=) | |
4 | g.6302282G>A | CA438368332 | WFS1 | c.2523G>A (p.Leu841=) c.2464G>A c.2487G>A (p.Leu829=) c.2238G>A (p.Leu746=) n.2672G>A c.2496G>A (p.Leu832=) | ClinVar dbSNP gnomAD v4 |
4 | g.6302282G>C | CA438368333 | WFS1 | c.2523G>C (p.Leu841=) c.2464G>C c.2487G>C (p.Leu829=) c.2238G>C (p.Leu746=) n.2672G>C c.2496G>C (p.Leu832=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302282G= | CA1435772568 | WFS1 | c.2523G= (p.Leu841=) c.2464G= c.2487G= (p.Leu829=) c.2238G= (p.Leu746=) n.2672G= c.2496G= (p.Leu832=) | |
4 | g.6302282G>T | CA438368334 | WFS1 | c.2523G>T (p.Leu841=) c.2464G>T c.2487G>T (p.Leu829=) c.2238G>T (p.Leu746=) n.2672G>T c.2496G>T (p.Leu832=) | |
4 | g.6302283G>A | CA356178693 | WFS1 | c.2524G>A (p.Glu842Lys) c.2465G>A c.2488G>A (p.Glu830Lys) c.2239G>A (p.Glu747Lys) n.2673G>A c.2497G>A (p.Glu833Lys) | |
4 | g.6302283G>C | CA356178698 | WFS1 | c.2524G>C (p.Glu842Gln) c.2465G>C c.2488G>C (p.Glu830Gln) c.2239G>C (p.Glu747Gln) n.2673G>C c.2497G>C (p.Glu833Gln) | |
4 | g.6302283G>T | CA356178695 | WFS1 | c.2524G>T (p.Glu842Ter) c.2465G>T c.2488G>T (p.Glu830Ter) c.2239G>T (p.Glu747Ter) n.2673G>T c.2497G>T (p.Glu833Ter) | |
4 | g.6302284A>C | CA356178701 | WFS1 | c.2525A>C (p.Glu842Ala) c.2466A>C c.2489A>C (p.Glu830Ala) c.2240A>C (p.Glu747Ala) n.2674A>C c.2498A>C (p.Glu833Ala) | |
4 | g.6302284A>G | CA356178703 | WFS1 | c.2525A>G (p.Glu842Gly) c.2466A>G c.2489A>G (p.Glu830Gly) c.2240A>G (p.Glu747Gly) n.2674A>G c.2498A>G (p.Glu833Gly) | |
4 | g.6302284A>T | CA356178702 | WFS1 | c.2525A>T (p.Glu842Val) c.2466A>T c.2489A>T (p.Glu830Val) c.2240A>T (p.Glu747Val) n.2674A>T c.2498A>T (p.Glu833Val) | |
4 | g.6302285G>A | CA438368335 | WFS1 | c.2526G>A (p.Glu842=) c.2467G>A c.2490G>A (p.Glu830=) c.2241G>A (p.Glu747=) n.2675G>A c.2499G>A (p.Glu833=) | |
4 | g.6302285G>C | CA356178706 | WFS1 | c.2526G>C (p.Glu842Asp) c.2467G>C c.2490G>C (p.Glu830Asp) c.2241G>C (p.Glu747Asp) n.2675G>C c.2499G>C (p.Glu833Asp) | dbSNP |
4 | g.6302285G= | CA1435772569 | WFS1 | c.2526G= (p.Glu842=) c.2467G= c.2490G= (p.Glu830=) c.2241G= (p.Glu747=) n.2675G= c.2499G= (p.Glu833=) | |
4 | g.6302285G>T | CA356178708 | WFS1 | c.2526G>T (p.Glu842Asp) c.2467G>T c.2490G>T (p.Glu830Asp) c.2241G>T (p.Glu747Asp) n.2675G>T c.2499G>T (p.Glu833Asp) | |
4 | g.6302286G>A | CA356178709 | WFS1 | c.2527G>A (p.Gly843Ser) c.2468G>A c.2491G>A (p.Gly831Ser) c.2242G>A (p.Gly748Ser) n.2676G>A c.2500G>A (p.Gly834Ser) | |
4 | g.6302286G>C | CA356178713 | WFS1 | c.2527G>C (p.Gly843Arg) c.2468G>C c.2491G>C (p.Gly831Arg) c.2242G>C (p.Gly748Arg) n.2676G>C c.2500G>C (p.Gly834Arg) | |
4 | g.6302286G>T | CA356178711 | WFS1 | c.2527G>T (p.Gly843Cys) c.2468G>T c.2491G>T (p.Gly831Cys) c.2242G>T (p.Gly748Cys) n.2676G>T c.2500G>T (p.Gly834Cys) | |
4 | g.6302287G>A | CA253203 | WFS1 | c.2528G>A (p.Gly843Asp) c.2469G>A c.2492G>A (p.Gly831Asp) c.2243G>A (p.Gly748Asp) n.2677G>A c.2501G>A (p.Gly834Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302287G>C | CA320333 | WFS1 | c.2528G>C (p.Gly843Ala) c.2469G>C c.2492G>C (p.Gly831Ala) c.2243G>C (p.Gly748Ala) n.2677G>C c.2501G>C (p.Gly834Ala) | ClinVar dbSNP |
4 | g.6302287G= | CA1435772570 | WFS1 | c.2528G= (p.Gly843=) c.2469G= c.2492G= (p.Gly831=) c.2243G= (p.Gly748=) n.2677G= c.2501G= (p.Gly834=) | |
4 | g.6302287G>T | CA356178716 | WFS1 | c.2528G>T (p.Gly843Val) c.2469G>T c.2492G>T (p.Gly831Val) c.2243G>T (p.Gly748Val) n.2677G>T c.2501G>T (p.Gly834Val) | |
4 | g.6302288C>A | CA438368336 | WFS1 | c.2529C>A (p.Gly843=) c.2470C>A c.2493C>A (p.Gly831=) c.2244C>A (p.Gly748=) n.2678C>A c.2502C>A (p.Gly834=) | |
4 | g.6302288C= | CA1435772572 | WFS1 | c.2529C= (p.Gly843=) c.2470C= c.2493C= (p.Gly831=) c.2244C= (p.Gly748=) n.2678C= c.2502C= (p.Gly834=) | |
4 | g.6302288C>G | CA438368337 | WFS1 | c.2529C>G (p.Gly843=) c.2470C>G c.2493C>G (p.Gly831=) c.2244C>G (p.Gly748=) n.2678C>G c.2502C>G (p.Gly834=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302288C>T | CA91797243 | WFS1 | c.2529C>T (p.Gly843=) c.2470C>T c.2493C>T (p.Gly831=) c.2244C>T (p.Gly748=) n.2678C>T c.2502C>T (p.Gly834=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302289C>A | CA356178725 | WFS1 | c.2530C>A (p.Arg844Ser) c.2471C>A c.2494C>A (p.Arg832Ser) c.2245C>A (p.Arg749Ser) n.2679C>A c.2503C>A (p.Arg835Ser) | |
4 | g.6302289C= | CA1435772575 | WFS1 | c.2530C= (p.Arg844=) c.2471C= c.2494C= (p.Arg832=) c.2245C= (p.Arg749=) n.2679C= c.2503C= (p.Arg835=) | |
4 | g.6302289C>G | CA2839755 | WFS1 | c.2530C>G (p.Arg844Gly) c.2471C>G c.2494C>G (p.Arg832Gly) c.2245C>G (p.Arg749Gly) n.2679C>G c.2503C>G (p.Arg835Gly) | dbSNP ExAC |
4 | g.6302289C>T | CA2839754 | WFS1 | c.2530C>T (p.Arg844Cys) c.2471C>T c.2494C>T (p.Arg832Cys) c.2245C>T (p.Arg749Cys) n.2679C>T c.2503C>T (p.Arg835Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302290G>A | CA2839756 | WFS1 | c.2531G>A (p.Arg844His) c.2472G>A c.2495G>A (p.Arg832His) c.2246G>A (p.Arg749His) n.2680G>A c.2504G>A (p.Arg835His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302290G>C | CA356178731 | WFS1 | c.2531G>C (p.Arg844Pro) c.2472G>C c.2495G>C (p.Arg832Pro) c.2246G>C (p.Arg749Pro) n.2680G>C c.2504G>C (p.Arg835Pro) | |
4 | g.6302290G= | CA1435772576 | WFS1 | c.2531G= (p.Arg844=) c.2472G= c.2495G= (p.Arg832=) c.2246G= (p.Arg749=) n.2680G= c.2504G= (p.Arg835=) | |
4 | g.6302290G>T | CA356178733 | WFS1 | c.2531G>T (p.Arg844Leu) c.2472G>T c.2495G>T (p.Arg832Leu) c.2246G>T (p.Arg749Leu) n.2680G>T c.2504G>T (p.Arg835Leu) | |
4 | g.6302291C>A | CA438368338 | WFS1 | c.2532C>A (p.Arg844=) c.2473C>A c.2496C>A (p.Arg832=) c.2247C>A (p.Arg749=) n.2681C>A c.2505C>A (p.Arg835=) | |
4 | g.6302291C= | CA1435772578 | WFS1 | c.2532C= (p.Arg844=) c.2473C= c.2496C= (p.Arg832=) c.2247C= (p.Arg749=) n.2681C= c.2505C= (p.Arg835=) | |
4 | g.6302291C>G | CA438368340 | WFS1 | c.2532C>G (p.Arg844=) c.2473C>G c.2496C>G (p.Arg832=) c.2247C>G (p.Arg749=) n.2681C>G c.2505C>G (p.Arg835=) | |
4 | g.6302291C>T | CA438368339 | WFS1 | c.2532C>T (p.Arg844=) c.2473C>T c.2496C>T (p.Arg832=) c.2247C>T (p.Arg749=) n.2681C>T c.2505C>T (p.Arg835=) | dbSNP gnomAD v4 COSMIC |
4 | g.6302292C>A | CA356178736 | WFS1 | c.2533C>A (p.Leu845Met) c.2474C>A c.2497C>A (p.Leu833Met) c.2248C>A (p.Leu750Met) n.2682C>A c.2506C>A (p.Leu836Met) | |
4 | g.6302292C= | CA1435772580 | WFS1 | c.2533C= (p.Leu845=) c.2474C= c.2497C= (p.Leu833=) c.2248C= (p.Leu750=) n.2682C= c.2506C= (p.Leu836=) | |
4 | g.6302292C>G | CA356178735 | WFS1 | c.2533C>G (p.Leu845Val) c.2474C>G c.2497C>G (p.Leu833Val) c.2248C>G (p.Leu750Val) n.2682C>G c.2506C>G (p.Leu836Val) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302292C>T | CA2839757 | WFS1 | c.2533C>T (p.Leu845=) c.2474C>T c.2497C>T (p.Leu833=) c.2248C>T (p.Leu750=) n.2682C>T c.2506C>T (p.Leu836=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302293T>A | CA356178737 | WFS1 | c.2534T>A (p.Leu845Gln) c.2475T>A c.2498T>A (p.Leu833Gln) c.2249T>A (p.Leu750Gln) n.2683T>A c.2507T>A (p.Leu836Gln) | ClinVar dbSNP |
4 | g.6302293T>C | CA356178738 | WFS1 | c.2534T>C (p.Leu845Pro) c.2475T>C c.2498T>C (p.Leu833Pro) c.2249T>C (p.Leu750Pro) n.2683T>C c.2507T>C (p.Leu836Pro) | |
4 | g.6302293T>G | CA356178739 | WFS1 | c.2534T>G (p.Leu845Arg) c.2475T>G c.2498T>G (p.Leu833Arg) c.2249T>G (p.Leu750Arg) n.2683T>G c.2507T>G (p.Leu836Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302293T= | CA1435772581 | WFS1 | c.2534T= (p.Leu845=) c.2475T= c.2498T= (p.Leu833=) c.2249T= (p.Leu750=) n.2683T= c.2507T= (p.Leu836=) | |
4 | g.6302294G>A | CA438368341 | WFS1 | c.2535G>A (p.Leu845=) c.2476G>A c.2499G>A (p.Leu833=) c.2250G>A (p.Leu750=) n.2684G>A c.2508G>A (p.Leu836=) | ClinVar dbSNP |
4 | g.6302294G>C | CA438368342 | WFS1 | c.2535G>C (p.Leu845=) c.2476G>C c.2499G>C (p.Leu833=) c.2250G>C (p.Leu750=) n.2684G>C c.2508G>C (p.Leu836=) | dbSNP gnomAD v4 |
4 | g.6302294G= | CA1435772584 | WFS1 | c.2535G= (p.Leu845=) c.2476G= c.2499G= (p.Leu833=) c.2250G= (p.Leu750=) n.2684G= c.2508G= (p.Leu836=) | |
4 | g.6302294G>T | CA438368343 | WFS1 | c.2535G>T (p.Leu845=) c.2476G>T c.2499G>T (p.Leu833=) c.2250G>T (p.Leu750=) n.2684G>T c.2508G>T (p.Leu836=) | ClinVar dbSNP |
4 | g.6302296del | CA2841725580 | WFS1 | c.2537del (p.Gly846AlafsTer28) c.2478del c.2501del (p.Gly834AlafsTer28) c.2252del (p.Gly751AlafsTer28) n.2686del c.2510del (p.Gly837AlafsTer28) | |
4 | g.6302295G>A | CA222903 | WFS1 | c.2536G>A (p.Gly846Ser) c.2477G>A c.2500G>A (p.Gly834Ser) c.2251G>A (p.Gly751Ser) n.2685G>A c.2509G>A (p.Gly837Ser) | ClinVar dbSNP gnomAD v4 |
4 | g.6302295G>C | CA356178741 | WFS1 | c.2536G>C (p.Gly846Arg) c.2477G>C c.2500G>C (p.Gly834Arg) c.2251G>C (p.Gly751Arg) n.2685G>C c.2509G>C (p.Gly837Arg) | dbSNP |
4 | g.6302295G= | CA1435772585 | WFS1 | c.2536G= (p.Gly846=) c.2477G= c.2500G= (p.Gly834=) c.2251G= (p.Gly751=) n.2685G= c.2509G= (p.Gly837=) | |
4 | g.6302295G>T | CA356178742 | WFS1 | c.2536G>T (p.Gly846Cys) c.2477G>T c.2500G>T (p.Gly834Cys) c.2251G>T (p.Gly751Cys) n.2685G>T c.2509G>T (p.Gly837Cys) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302296G>A | CA356178744 | WFS1 | c.2537G>A (p.Gly846Asp) c.2478G>A c.2501G>A (p.Gly834Asp) c.2252G>A (p.Gly751Asp) n.2686G>A c.2510G>A (p.Gly837Asp) | ClinVar dbSNP |
4 | g.6302296G>C | CA356178747 | WFS1 | c.2537G>C (p.Gly846Ala) c.2478G>C c.2501G>C (p.Gly834Ala) c.2252G>C (p.Gly751Ala) n.2686G>C c.2510G>C (p.Gly837Ala) | |
4 | g.6302296G>T | CA356178746 | WFS1 | c.2537G>T (p.Gly846Val) c.2478G>T c.2501G>T (p.Gly834Val) c.2252G>T (p.Gly751Val) n.2686G>T c.2510G>T (p.Gly837Val) | gnomAD v4 |
4 | g.6302297C>A | CA438368344 | WFS1 | c.2538C>A (p.Gly846=) c.2479C>A c.2502C>A (p.Gly834=) c.2253C>A (p.Gly751=) n.2687C>A c.2511C>A (p.Gly837=) | dbSNP |
4 | g.6302297C= | CA1435772588 | WFS1 | c.2538C= (p.Gly846=) c.2479C= c.2502C= (p.Gly834=) c.2253C= (p.Gly751=) n.2687C= c.2511C= (p.Gly837=) | |
4 | g.6302297C>G | CA438368345 | WFS1 | c.2538C>G (p.Gly846=) c.2479C>G c.2502C>G (p.Gly834=) c.2253C>G (p.Gly751=) n.2687C>G c.2511C>G (p.Gly837=) | |
4 | g.6302297C>T | CA438368346 | WFS1 | c.2538C>T (p.Gly846=) c.2479C>T c.2502C>T (p.Gly834=) c.2253C>T (p.Gly751=) n.2687C>T c.2511C>T (p.Gly837=) | ClinVar gnomAD v4 |
4 | g.6302298A>C | CA356178748 | WFS1 | c.2539A>C (p.Ser847Arg) c.2480A>C c.2503A>C (p.Ser835Arg) c.2254A>C (p.Ser752Arg) n.2688A>C c.2512A>C (p.Ser838Arg) | |
4 | g.6302298A>G | CA356178750 | WFS1 | c.2539A>G (p.Ser847Gly) c.2480A>G c.2503A>G (p.Ser835Gly) c.2254A>G (p.Ser752Gly) n.2688A>G c.2512A>G (p.Ser838Gly) | |
4 | g.6302298A>T | CA356178752 | WFS1 | c.2539A>T (p.Ser847Cys) c.2480A>T c.2503A>T (p.Ser835Cys) c.2254A>T (p.Ser752Cys) n.2688A>T c.2512A>T (p.Ser838Cys) | |
4 | g.6302299G>A | CA356178755 | WFS1 | c.2540G>A (p.Ser847Asn) c.2481G>A c.2504G>A (p.Ser835Asn) c.2255G>A (p.Ser752Asn) n.2689G>A c.2513G>A (p.Ser838Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302299G>C | CA356178756 | WFS1 | c.2540G>C (p.Ser847Thr) c.2481G>C c.2504G>C (p.Ser835Thr) c.2255G>C (p.Ser752Thr) n.2689G>C c.2513G>C (p.Ser838Thr) | |
4 | g.6302299G= | CA1435772589 | WFS1 | c.2540G= (p.Ser847=) c.2481G= c.2504G= (p.Ser835=) c.2255G= (p.Ser752=) n.2689G= c.2513G= (p.Ser838=) | |
4 | g.6302299G>T | CA356178758 | WFS1 | c.2540G>T (p.Ser847Ile) c.2481G>T c.2504G>T (p.Ser835Ile) c.2255G>T (p.Ser752Ile) n.2689G>T c.2513G>T (p.Ser838Ile) | |
4 | g.6302300C>A | CA356178759 | WFS1 | c.2541C>A (p.Ser847Arg) c.2482C>A c.2505C>A (p.Ser835Arg) c.2256C>A (p.Ser752Arg) n.2690C>A c.2514C>A (p.Ser838Arg) | COSMIC |
4 | g.6302300C>G | CA356178761 | WFS1 | c.2541C>G (p.Ser847Arg) c.2482C>G c.2505C>G (p.Ser835Arg) c.2256C>G (p.Ser752Arg) n.2690C>G c.2514C>G (p.Ser838Arg) | |
4 | g.6302300C>T | CA438368347 | WFS1 | c.2541C>T (p.Ser847=) c.2482C>T c.2505C>T (p.Ser835=) c.2256C>T (p.Ser752=) n.2690C>T c.2514C>T (p.Ser838=) | |
4 | g.6302300dup | CA2586973656 | WFS1 | c.2541dup (p.Lys848GlnfsTer?) c.2482dup c.2505dup (p.Lys836GlnfsTer?) c.2256dup (p.Lys753GlnfsTer?) n.2690dup c.2514dup (p.Lys839GlnfsTer?) | |
4 | g.6302301A>C | CA356178763 | WFS1 | c.2542A>C (p.Lys848Gln) c.2483A>C c.2506A>C (p.Lys836Gln) c.2257A>C (p.Lys753Gln) n.2691A>C c.2515A>C (p.Lys839Gln) | |
4 | g.6302301A>G | CA356178764 | WFS1 | c.2542A>G (p.Lys848Glu) c.2483A>G c.2506A>G (p.Lys836Glu) c.2257A>G (p.Lys753Glu) n.2691A>G c.2515A>G (p.Lys839Glu) | gnomAD v4 |
4 | g.6302301A>T | CA356178766 | WFS1 | c.2542A>T (p.Lys848Ter) c.2483A>T c.2506A>T (p.Lys836Ter) c.2257A>T (p.Lys753Ter) n.2691A>T c.2515A>T (p.Lys839Ter) | |
4 | g.6302302A>C | CA356178771 | WFS1 | c.2543A>C (p.Lys848Thr) c.2484A>C c.2507A>C (p.Lys836Thr) c.2258A>C (p.Lys753Thr) n.2692A>C c.2516A>C (p.Lys839Thr) | |
4 | g.6302302A>G | CA356178768 | WFS1 | c.2543A>G (p.Lys848Arg) c.2484A>G c.2507A>G (p.Lys836Arg) c.2258A>G (p.Lys753Arg) n.2692A>G c.2516A>G (p.Lys839Arg) | |
4 | g.6302302A>T | CA356178770 | WFS1 | c.2543A>T (p.Lys848Met) c.2484A>T c.2507A>T (p.Lys836Met) c.2258A>T (p.Lys753Met) n.2692A>T c.2516A>T (p.Lys839Met) | |
4 | g.6302303G>A | CA438368348 | WFS1 | c.2544G>A (p.Lys848=) c.2485G>A c.2508G>A (p.Lys836=) c.2259G>A (p.Lys753=) n.2693G>A c.2517G>A (p.Lys839=) | |
4 | g.6302303G>C | CA10576641 | WFS1 | c.2544G>C (p.Lys848Asn) c.2485G>C c.2508G>C (p.Lys836Asn) c.2259G>C (p.Lys753Asn) n.2693G>C c.2517G>C (p.Lys839Asn) | ClinVar dbSNP |
4 | g.6302303G= | CA1435772591 | WFS1 | c.2544G= (p.Lys848=) c.2485G= c.2508G= (p.Lys836=) c.2259G= (p.Lys753=) n.2693G= c.2517G= (p.Lys839=) | |
4 | g.6302303G>T | CA356178774 | WFS1 | c.2544G>T (p.Lys848Asn) c.2485G>T c.2508G>T (p.Lys836Asn) c.2259G>T (p.Lys753Asn) n.2693G>T c.2517G>T (p.Lys839Asn) | |
4 | g.6302304T>A | CA356178776 | WFS1 | c.2545T>A (p.Trp849Arg) c.2486T>A c.2509T>A (p.Trp837Arg) c.2260T>A (p.Trp754Arg) n.2694T>A c.2518T>A (p.Trp840Arg) | |
4 | g.6302304T>C | CA356178777 | WFS1 | c.2545T>C (p.Trp849Arg) c.2486T>C c.2509T>C (p.Trp837Arg) c.2260T>C (p.Trp754Arg) n.2694T>C c.2518T>C (p.Trp840Arg) | gnomAD v4 |
4 | g.6302304T>G | CA356178778 | WFS1 | c.2545T>G (p.Trp849Gly) c.2486T>G c.2509T>G (p.Trp837Gly) c.2260T>G (p.Trp754Gly) n.2694T>G c.2518T>G (p.Trp840Gly) | dbSNP gnomAD v4 |
4 | g.6302304T= | CA1435772592 | WFS1 | c.2545T= (p.Trp849=) c.2486T= c.2509T= (p.Trp837=) c.2260T= (p.Trp754=) n.2694T= c.2518T= (p.Trp840=) | |
4 | g.6302305G>A | CA356178782 | WFS1 | c.2546G>A (p.Trp849Ter) c.2487G>A c.2510G>A (p.Trp837Ter) c.2261G>A (p.Trp754Ter) n.2695G>A c.2519G>A (p.Trp840Ter) | gnomAD v4 |
4 | g.6302305G>C | CA356178781 | WFS1 | c.2546G>C (p.Trp849Ser) c.2487G>C c.2510G>C (p.Trp837Ser) c.2261G>C (p.Trp754Ser) n.2695G>C c.2519G>C (p.Trp840Ser) | |
4 | g.6302305G>T | CA356178779 | WFS1 | c.2546G>T (p.Trp849Leu) c.2487G>T c.2510G>T (p.Trp837Leu) c.2261G>T (p.Trp754Leu) n.2695G>T c.2519G>T (p.Trp840Leu) | |
4 | g.6302306G>A | CA356178783 | WFS1 | c.2547G>A (p.Trp849Ter) c.2488G>A c.2511G>A (p.Trp837Ter) c.2262G>A (p.Trp754Ter) n.2696G>A c.2520G>A (p.Trp840Ter) | |
4 | g.6302306G>C | CA356178784 | WFS1 | c.2547G>C (p.Trp849Cys) c.2488G>C c.2511G>C (p.Trp837Cys) c.2262G>C (p.Trp754Cys) n.2696G>C c.2520G>C (p.Trp840Cys) | |
4 | g.6302306G= | CA1435772593 | WFS1 | c.2547G= (p.Trp849=) c.2488G= c.2511G= (p.Trp837=) c.2262G= (p.Trp754=) n.2696G= c.2520G= (p.Trp840=) | |
4 | g.6302306G>T | CA356178785 | WFS1 | c.2547G>T (p.Trp849Cys) c.2488G>T c.2511G>T (p.Trp837Cys) c.2262G>T (p.Trp754Cys) n.2696G>T c.2520G>T (p.Trp840Cys) | ClinVar dbSNP gnomAD v2 |
4 | g.6302307C>A | CA356178787 | WFS1 | c.2548C>A (p.Pro850Thr) c.2489C>A c.2512C>A (p.Pro838Thr) c.2263C>A (p.Pro755Thr) n.2697C>A c.2521C>A (p.Pro841Thr) | |
4 | g.6302307C>G | CA356178789 | WFS1 | c.2548C>G (p.Pro850Ala) c.2489C>G c.2512C>G (p.Pro838Ala) c.2263C>G (p.Pro755Ala) n.2697C>G c.2521C>G (p.Pro841Ala) | ClinVar dbSNP |
4 | g.6302307C>T | CA356178790 | WFS1 | c.2548C>T (p.Pro850Ser) c.2489C>T c.2512C>T (p.Pro838Ser) c.2263C>T (p.Pro755Ser) n.2697C>T c.2521C>T (p.Pro841Ser) | |
4 | g.6302308C>A | CA356178792 | WFS1 | c.2549C>A (p.Pro850His) c.2490C>A c.2513C>A (p.Pro838His) c.2264C>A (p.Pro755His) n.2698C>A c.2522C>A (p.Pro841His) | |
4 | g.6302308C= | CA1435772594 | WFS1 | c.2549C= (p.Pro850=) c.2490C= c.2513C= (p.Pro838=) c.2264C= (p.Pro755=) n.2698C= c.2522C= (p.Pro841=) | |
4 | g.6302308C>G | CA356178795 | WFS1 | c.2549C>G (p.Pro850Arg) c.2490C>G c.2513C>G (p.Pro838Arg) c.2264C>G (p.Pro755Arg) n.2698C>G c.2522C>G (p.Pro841Arg) | |
4 | g.6302308C>T | CA91797255 | WFS1 | c.2549C>T (p.Pro850Leu) c.2490C>T c.2513C>T (p.Pro838Leu) c.2264C>T (p.Pro755Leu) n.2698C>T c.2522C>T (p.Pro841Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302309T>A | CA438368349 | WFS1 | c.2550T>A (p.Pro850=) c.2491T>A c.2514T>A (p.Pro838=) c.2265T>A (p.Pro755=) n.2699T>A c.2523T>A (p.Pro841=) | |
4 | g.6302309T>C | CA2839758 | WFS1 | c.2550T>C (p.Pro850=) c.2491T>C c.2514T>C (p.Pro838=) c.2265T>C (p.Pro755=) n.2699T>C c.2523T>C (p.Pro841=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302309T>G | CA438368350 | WFS1 | c.2550T>G (p.Pro850=) c.2491T>G c.2514T>G (p.Pro838=) c.2265T>G (p.Pro755=) n.2699T>G c.2523T>G (p.Pro841=) | |
4 | g.6302309T= | CA1435772596 | WFS1 | c.2550T= (p.Pro850=) c.2491T= c.2514T= (p.Pro838=) c.2265T= (p.Pro755=) n.2699T= c.2523T= (p.Pro841=) | |
4 | g.6302310G>A | CA356178797 | WFS1 | c.2551G>A (p.Val851Ile) c.2492G>A c.2515G>A (p.Val839Ile) c.2266G>A (p.Val756Ile) n.2700G>A c.2524G>A (p.Val842Ile) | |
4 | g.6302310G>C | CA356178799 | WFS1 | c.2551G>C (p.Val851Leu) c.2492G>C c.2515G>C (p.Val839Leu) c.2266G>C (p.Val756Leu) n.2700G>C c.2524G>C (p.Val842Leu) | gnomAD v4 |
4 | g.6302310G>T | CA356178801 | WFS1 | c.2551G>T (p.Val851Phe) c.2492G>T c.2515G>T (p.Val839Phe) c.2266G>T (p.Val756Phe) n.2700G>T c.2524G>T (p.Val842Phe) | gnomAD v4 |
4 | g.6302311T>A | CA356178803 | WFS1 | c.2552T>A (p.Val851Asp) c.2493T>A c.2516T>A (p.Val839Asp) c.2267T>A (p.Val756Asp) n.2701T>A c.2525T>A (p.Val842Asp) | dbSNP |
4 | g.6302311T>C | CA2839760 | WFS1 | c.2552T>C (p.Val851Ala) c.2493T>C c.2516T>C (p.Val839Ala) c.2267T>C (p.Val756Ala) n.2701T>C c.2525T>C (p.Val842Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302311T>G | CA2839759 | WFS1 | c.2552T>G (p.Val851Gly) c.2493T>G c.2516T>G (p.Val839Gly) c.2267T>G (p.Val756Gly) n.2701T>G c.2525T>G (p.Val842Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302311T= | CA1435772597 | WFS1 | c.2552T= (p.Val851=) c.2493T= c.2516T= (p.Val839=) c.2267T= (p.Val756=) n.2701T= c.2525T= (p.Val842=) | |
4 | g.6302312C>A | CA438368351 | WFS1 | c.2553C>A (p.Val851=) c.2494C>A c.2517C>A (p.Val839=) c.2268C>A (p.Val756=) n.2702C>A c.2526C>A (p.Val842=) | gnomAD v4 |
4 | g.6302312C= | CA1435772599 | WFS1 | c.2553C= (p.Val851=) c.2494C= c.2517C= (p.Val839=) c.2268C= (p.Val756=) n.2702C= c.2526C= (p.Val842=) | |
4 | g.6302312C>G | CA91797264 | WFS1 | c.2553C>G (p.Val851=) c.2494C>G c.2517C>G (p.Val839=) c.2268C>G (p.Val756=) n.2702C>G c.2526C>G (p.Val842=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302312C>T | CA438368352 | WFS1 | c.2553C>T (p.Val851=) c.2494C>T c.2517C>T (p.Val839=) c.2268C>T (p.Val756=) n.2702C>T c.2526C>T (p.Val842=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302313T>A | CA356178809 | WFS1 | c.2554T>A (p.Phe852Ile) c.2495T>A c.2518T>A (p.Phe840Ile) c.2269T>A (p.Phe757Ile) n.2703T>A c.2527T>A (p.Phe843Ile) | |
4 | g.6302313T>C | CA356178811 | WFS1 | c.2554T>C (p.Phe852Leu) c.2495T>C c.2518T>C (p.Phe840Leu) c.2269T>C (p.Phe757Leu) n.2703T>C c.2527T>C (p.Phe843Leu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302313T>G | CA356178812 | WFS1 | c.2554T>G (p.Phe852Val) c.2495T>G c.2518T>G (p.Phe840Val) c.2269T>G (p.Phe757Val) n.2703T>G c.2527T>G (p.Phe843Val) | |
4 | g.6302313T= | CA1435772600 | WFS1 | c.2554T= (p.Phe852=) c.2495T= c.2518T= (p.Phe840=) c.2269T= (p.Phe757=) n.2703T= c.2527T= (p.Phe843=) | |
4 | g.6302314T>A | CA356178815 | WFS1 | c.2555T>A (p.Phe852Tyr) c.2496T>A c.2519T>A (p.Phe840Tyr) c.2270T>A (p.Phe757Tyr) n.2704T>A c.2528T>A (p.Phe843Tyr) | |
4 | g.6302314T>C | CA356178818 | WFS1 | c.2555T>C (p.Phe852Ser) c.2496T>C c.2519T>C (p.Phe840Ser) c.2270T>C (p.Phe757Ser) n.2704T>C c.2528T>C (p.Phe843Ser) | |
4 | g.6302314T>G | CA356178817 | WFS1 | c.2555T>G (p.Phe852Cys) c.2496T>G c.2519T>G (p.Phe840Cys) c.2270T>G (p.Phe757Cys) n.2704T>G c.2528T>G (p.Phe843Cys) | |
4 | g.6302315C>A | CA356178821 | WFS1 | c.2556C>A (p.Phe852Leu) c.2497C>A c.2520C>A (p.Phe840Leu) c.2271C>A (p.Phe757Leu) n.2705C>A c.2529C>A (p.Phe843Leu) | |
4 | g.6302315C= | CA1435772602 | WFS1 | c.2556C= (p.Phe852=) c.2497C= c.2520C= (p.Phe840=) c.2271C= (p.Phe757=) n.2705C= c.2529C= (p.Phe843=) | |
4 | g.6302315C>G | CA356178822 | WFS1 | c.2556C>G (p.Phe852Leu) c.2497C>G c.2520C>G (p.Phe840Leu) c.2271C>G (p.Phe757Leu) n.2705C>G c.2529C>G (p.Phe843Leu) | |
4 | g.6302315C>T | CA2839761 | WFS1 | c.2556C>T (p.Phe852=) c.2497C>T c.2520C>T (p.Phe840=) c.2271C>T (p.Phe757=) n.2705C>T c.2529C>T (p.Phe843=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302316G>A | CA356178825 | WFS1 | c.2557G>A (p.Glu853Lys) c.2498G>A c.2521G>A (p.Glu841Lys) c.2272G>A (p.Glu758Lys) n.2706G>A c.2530G>A (p.Glu844Lys) | |
4 | g.6302316G>C | CA356178826 | WFS1 | c.2557G>C (p.Glu853Gln) c.2498G>C c.2521G>C (p.Glu841Gln) c.2272G>C (p.Glu758Gln) n.2706G>C c.2530G>C (p.Glu844Gln) | ClinVar dbSNP |
4 | g.6302316G= | CA1435772603 | WFS1 | c.2557G= (p.Glu853=) c.2498G= c.2521G= (p.Glu841=) c.2272G= (p.Glu758=) n.2706G= c.2530G= (p.Glu844=) | |
4 | g.6302316G>T | CA2839762 | WFS1 | c.2557G>T (p.Glu853Ter) c.2498G>T c.2521G>T (p.Glu841Ter) c.2272G>T (p.Glu758Ter) n.2706G>T c.2530G>T (p.Glu844Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302317A>C | CA356178831 | WFS1 | c.2558A>C (p.Glu853Ala) c.2499A>C c.2522A>C (p.Glu841Ala) c.2273A>C (p.Glu758Ala) n.2707A>C c.2531A>C (p.Glu844Ala) | |
4 | g.6302317A>G | CA356178828 | WFS1 | c.2558A>G (p.Glu853Gly) c.2499A>G c.2522A>G (p.Glu841Gly) c.2273A>G (p.Glu758Gly) n.2707A>G c.2531A>G (p.Glu844Gly) | |
4 | g.6302317A>T | CA356178830 | WFS1 | c.2558A>T (p.Glu853Val) c.2499A>T c.2522A>T (p.Glu841Val) c.2273A>T (p.Glu758Val) n.2707A>T c.2531A>T (p.Glu844Val) | |
4 | g.6302318G>A | CA438368353 | WFS1 | c.2559G>A (p.Glu853=) c.2500G>A c.2523G>A (p.Glu841=) c.2274G>A (p.Glu758=) n.2708G>A c.2532G>A (p.Glu844=) | gnomAD v4 |
4 | g.6302318G>C | CA356178833 | WFS1 | c.2559G>C (p.Glu853Asp) c.2500G>C c.2523G>C (p.Glu841Asp) c.2274G>C (p.Glu758Asp) n.2708G>C c.2532G>C (p.Glu844Asp) | |
4 | g.6302318G>T | CA356178835 | WFS1 | c.2559G>T (p.Glu853Asp) c.2500G>T c.2523G>T (p.Glu841Asp) c.2274G>T (p.Glu758Asp) n.2708G>T c.2532G>T (p.Glu844Asp) | gnomAD v4 |
4 | g.6302319C>A | CA356178837 | WFS1 | c.2560C>A (p.Leu854Ile) c.2501C>A c.2524C>A (p.Leu842Ile) c.2275C>A (p.Leu759Ile) n.2709C>A c.2533C>A (p.Leu845Ile) | |
4 | g.6302319C= | CA1435772605 | WFS1 | c.2560C= (p.Leu854=) c.2501C= c.2524C= (p.Leu842=) c.2275C= (p.Leu759=) n.2709C= c.2533C= (p.Leu845=) | |
4 | g.6302319C>G | CA356178838 | WFS1 | c.2560C>G (p.Leu854Val) c.2501C>G c.2524C>G (p.Leu842Val) c.2275C>G (p.Leu759Val) n.2709C>G c.2533C>G (p.Leu845Val) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302319C>T | CA91797271 | WFS1 | c.2560C>T (p.Leu854Phe) c.2501C>T c.2524C>T (p.Leu842Phe) c.2275C>T (p.Leu759Phe) n.2709C>T c.2533C>T (p.Leu845Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302320T>A | CA356178841 | WFS1 | c.2561T>A (p.Leu854His) c.2502T>A c.2525T>A (p.Leu842His) c.2276T>A (p.Leu759His) n.2710T>A c.2534T>A (p.Leu845His) | |
4 | g.6302320T>C | CA356178843 | WFS1 | c.2561T>C (p.Leu854Pro) c.2502T>C c.2525T>C (p.Leu842Pro) c.2276T>C (p.Leu759Pro) n.2710T>C c.2534T>C (p.Leu845Pro) | |
4 | g.6302320T>G | CA356178842 | WFS1 | c.2561T>G (p.Leu854Arg) c.2502T>G c.2525T>G (p.Leu842Arg) c.2276T>G (p.Leu759Arg) n.2710T>G c.2534T>G (p.Leu845Arg) | |
4 | g.6302321C>A | CA438368354 | WFS1 | c.2562C>A (p.Leu854=) c.2503C>A c.2526C>A (p.Leu842=) c.2277C>A (p.Leu759=) n.2711C>A c.2535C>A (p.Leu845=) | |
4 | g.6302321C= | CA1435772607 | WFS1 | c.2562C= (p.Leu854=) c.2503C= c.2526C= (p.Leu842=) c.2277C= (p.Leu759=) n.2711C= c.2535C= (p.Leu845=) | |
4 | g.6302321C>G | CA438368355 | WFS1 | c.2562C>G (p.Leu854=) c.2503C>G c.2526C>G (p.Leu842=) c.2277C>G (p.Leu759=) n.2711C>G c.2535C>G (p.Leu845=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302321C>T | CA438368356 | WFS1 | c.2562C>T (p.Leu854=) c.2503C>T c.2526C>T (p.Leu842=) c.2277C>T (p.Leu759=) n.2711C>T c.2535C>T (p.Leu845=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302322A>C | CA356178845 | WFS1 | c.2563A>C (p.Lys855Gln) c.2504A>C c.2527A>C (p.Lys843Gln) c.2278A>C (p.Lys760Gln) n.2712A>C c.2536A>C (p.Lys846Gln) | |
4 | g.6302322A>G | CA356178846 | WFS1 | c.2563A>G (p.Lys855Glu) c.2504A>G c.2527A>G (p.Lys843Glu) c.2278A>G (p.Lys760Glu) n.2712A>G c.2536A>G (p.Lys846Glu) | |
4 | g.6302322A>T | CA356178848 | WFS1 | c.2563A>T (p.Lys855Ter) c.2504A>T c.2527A>T (p.Lys843Ter) c.2278A>T (p.Lys760Ter) n.2712A>T c.2536A>T (p.Lys846Ter) | |
4 | g.6302323A= | CA1435772610 | WFS1 | c.2564A= (p.Lys855=) c.2505A= c.2528A= (p.Lys843=) c.2279A= (p.Lys760=) n.2713A= c.2537A= (p.Lys846=) | |
4 | g.6302323A>C | CA356178851 | WFS1 | c.2564A>C (p.Lys855Thr) c.2505A>C c.2528A>C (p.Lys843Thr) c.2279A>C (p.Lys760Thr) n.2713A>C c.2537A>C (p.Lys846Thr) | |
4 | g.6302323A>G | CA2839763 | WFS1 | c.2564A>G (p.Lys855Arg) c.2505A>G c.2528A>G (p.Lys843Arg) c.2279A>G (p.Lys760Arg) n.2713A>G c.2537A>G (p.Lys846Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302323A>T | CA356178853 | WFS1 | c.2564A>T (p.Lys855Met) c.2505A>T c.2528A>T (p.Lys843Met) c.2279A>T (p.Lys760Met) n.2713A>T c.2537A>T (p.Lys846Met) | ClinVar dbSNP gnomAD v4 |
4 | g.6302324G>A | CA438368357 | WFS1 | c.2565G>A (p.Lys855=) c.2506G>A c.2529G>A (p.Lys843=) c.2280G>A (p.Lys760=) n.2714G>A c.2538G>A (p.Lys846=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302324G>C | CA356178855 | WFS1 | c.2565G>C (p.Lys855Asn) c.2506G>C c.2529G>C (p.Lys843Asn) c.2280G>C (p.Lys760Asn) n.2714G>C c.2538G>C (p.Lys846Asn) | |
4 | g.6302324G= | CA1435772611 | WFS1 | c.2565G= (p.Lys855=) c.2506G= c.2529G= (p.Lys843=) c.2280G= (p.Lys760=) n.2714G= c.2538G= (p.Lys846=) | |
4 | g.6302324G>T | CA356178857 | WFS1 | c.2565G>T (p.Lys855Asn) c.2506G>T c.2529G>T (p.Lys843Asn) c.2280G>T (p.Lys760Asn) n.2714G>T c.2538G>T (p.Lys846Asn) | |
4 | g.6302325G>A | CA356178859 | WFS1 | c.2566G>A (p.Ala856Thr) c.2507G>A c.2530G>A (p.Ala844Thr) c.2281G>A (p.Ala761Thr) n.2715G>A c.2539G>A (p.Ala847Thr) | |
4 | g.6302325G>C | CA356178861 | WFS1 | c.2566G>C (p.Ala856Pro) c.2507G>C c.2530G>C (p.Ala844Pro) c.2281G>C (p.Ala761Pro) n.2715G>C c.2539G>C (p.Ala847Pro) | |
4 | g.6302325G>T | CA356178863 | WFS1 | c.2566G>T (p.Ala856Ser) c.2507G>T c.2530G>T (p.Ala844Ser) c.2281G>T (p.Ala761Ser) n.2715G>T c.2539G>T (p.Ala847Ser) | |
4 | g.6302326C>A | CA356178865 | WFS1 | c.2567C>A (p.Ala856Asp) c.2508C>A c.2531C>A (p.Ala844Asp) c.2282C>A (p.Ala761Asp) n.2716C>A c.2540C>A (p.Ala847Asp) | |
4 | g.6302326C= | CA1435772612 | WFS1 | c.2567C= (p.Ala856=) c.2508C= c.2531C= (p.Ala844=) c.2282C= (p.Ala761=) n.2716C= c.2540C= (p.Ala847=) | |
4 | g.6302326C>G | CA2839765 | WFS1 | c.2567C>G (p.Ala856Gly) c.2508C>G c.2531C>G (p.Ala844Gly) c.2282C>G (p.Ala761Gly) n.2716C>G c.2540C>G (p.Ala847Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302326C>T | CA2839764 | WFS1 | c.2567C>T (p.Ala856Val) c.2508C>T c.2531C>T (p.Ala844Val) c.2282C>T (p.Ala761Val) n.2716C>T c.2540C>T (p.Ala847Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302327C>A | CA438368359 | WFS1 | c.2568C>A (p.Ala856=) c.2509C>A c.2532C>A (p.Ala844=) c.2283C>A (p.Ala761=) n.2717C>A c.2541C>A (p.Ala847=) | |
4 | g.6302327C= | CA1435772614 | WFS1 | c.2568C= (p.Ala856=) c.2509C= c.2532C= (p.Ala844=) c.2283C= (p.Ala761=) n.2717C= c.2541C= (p.Ala847=) | |
4 | g.6302327C>G | CA438368358 | WFS1 | c.2568C>G (p.Ala856=) c.2509C>G c.2532C>G (p.Ala844=) c.2283C>G (p.Ala761=) n.2717C>G c.2541C>G (p.Ala847=) | |
4 | g.6302327C>T | CA2839766 | WFS1 | c.2568C>T (p.Ala856=) c.2509C>T c.2532C>T (p.Ala844=) c.2283C>T (p.Ala761=) n.2717C>T c.2541C>T (p.Ala847=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.6302328A= | CA1435772616 | WFS1 | c.2569A= (p.Ile857=) c.2510A= c.2533A= (p.Ile845=) c.2284A= (p.Ile762=) n.2718A= c.2542A= (p.Ile848=) | |
4 | g.6302328A>C | CA356179155 | WFS1 | c.2569A>C (p.Ile857Leu) c.2510A>C c.2533A>C (p.Ile845Leu) c.2284A>C (p.Ile762Leu) n.2718A>C c.2542A>C (p.Ile848Leu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302328A>G | CA2839767 | WFS1 | c.2569A>G (p.Ile857Val) c.2510A>G c.2533A>G (p.Ile845Val) c.2284A>G (p.Ile762Val) n.2718A>G c.2542A>G (p.Ile848Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302328A>T | CA356179156 | WFS1 | c.2569A>T (p.Ile857Phe) c.2510A>T c.2533A>T (p.Ile845Phe) c.2284A>T (p.Ile762Phe) n.2718A>T c.2542A>T (p.Ile848Phe) | ClinVar gnomAD v4 |
4 | g.6302329T>A | CA356179157 | WFS1 | c.2570T>A (p.Ile857Asn) c.2511T>A c.2534T>A (p.Ile845Asn) c.2285T>A (p.Ile762Asn) n.2719T>A c.2543T>A (p.Ile848Asn) | |
4 | g.6302329T>C | CA356179158 | WFS1 | c.2570T>C (p.Ile857Thr) c.2511T>C c.2534T>C (p.Ile845Thr) c.2285T>C (p.Ile762Thr) n.2719T>C c.2543T>C (p.Ile848Thr) | |
4 | g.6302329T>G | CA2839768 | WFS1 | c.2570T>G (p.Ile857Ser) c.2511T>G c.2534T>G (p.Ile845Ser) c.2285T>G (p.Ile762Ser) n.2719T>G c.2543T>G (p.Ile848Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302329T= | CA1435772618 | WFS1 | c.2570T= (p.Ile857=) c.2511T= c.2534T= (p.Ile845=) c.2285T= (p.Ile762=) n.2719T= c.2543T= (p.Ile848=) | |
4 | g.6302330C>A | CA438211504 | WFS1 | c.2571C>A (p.Ile857=) c.2512C>A c.2535C>A (p.Ile845=) c.2286C>A (p.Ile762=) n.2720C>A c.2544C>A (p.Ile848=) | |
4 | g.6302330C= | CA1435772621 | WFS1 | c.2571C= (p.Ile857=) c.2512C= c.2535C= (p.Ile845=) c.2286C= (p.Ile762=) n.2720C= c.2544C= (p.Ile848=) | |
4 | g.6302330C>G | CA356179159 | WFS1 | c.2571C>G (p.Ile857Met) c.2512C>G c.2535C>G (p.Ile845Met) c.2286C>G (p.Ile762Met) n.2720C>G c.2544C>G (p.Ile848Met) | dbSNP gnomAD v2 |
4 | g.6302330C>T | CA91797798 | WFS1 | c.2571C>T (p.Ile857=) c.2512C>T c.2535C>T (p.Ile845=) c.2286C>T (p.Ile762=) n.2720C>T c.2544C>T (p.Ile848=) | dbSNP gnomAD v4 |
4 | g.6302331A= | CA1435772624 | WFS1 | c.2572A= (p.Ser858=) c.2513A= c.2536A= (p.Ser846=) c.2287A= (p.Ser763=) n.2721A= c.2545A= (p.Ser849=) | |
4 | g.6302331A>C | CA356179160 | WFS1 | c.2572A>C (p.Ser858Arg) c.2513A>C c.2536A>C (p.Ser846Arg) c.2287A>C (p.Ser763Arg) n.2721A>C c.2545A>C (p.Ser849Arg) | |
4 | g.6302331A>G | CA2839769 | WFS1 | c.2572A>G (p.Ser858Gly) c.2513A>G c.2536A>G (p.Ser846Gly) c.2287A>G (p.Ser763Gly) n.2721A>G c.2545A>G (p.Ser849Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302331A>T | CA356179161 | WFS1 | c.2572A>T (p.Ser858Cys) c.2513A>T c.2536A>T (p.Ser846Cys) c.2287A>T (p.Ser763Cys) n.2721A>T c.2545A>T (p.Ser849Cys) | |
4 | g.6302331_6302334dup | CA549708053 | WFS1 | c.2572_2575dup (p.Cys859Ter) c.2513_2516dup c.2536_2539dup (p.Cys847Ter) c.2287_2290dup (p.Cys764Ter) n.2721_2724dup c.2545_2548dup (p.Cys850Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302332G>A | CA356179164 | WFS1 | c.2573G>A (p.Ser858Asn) c.2514G>A c.2537G>A (p.Ser846Asn) c.2288G>A (p.Ser763Asn) n.2722G>A c.2546G>A (p.Ser849Asn) | gnomAD v4 |
4 | g.6302332G>C | CA356179162 | WFS1 | c.2573G>C (p.Ser858Thr) c.2514G>C c.2537G>C (p.Ser846Thr) c.2288G>C (p.Ser763Thr) n.2722G>C c.2546G>C (p.Ser849Thr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302332G= | CA1435772626 | WFS1 | c.2573G= (p.Ser858=) c.2514G= c.2537G= (p.Ser846=) c.2288G= (p.Ser763=) n.2722G= c.2546G= (p.Ser849=) | |
4 | g.6302332G>T | CA356179163 | WFS1 | c.2573G>T (p.Ser858Ile) c.2514G>T c.2537G>T (p.Ser846Ile) c.2288G>T (p.Ser763Ile) n.2722G>T c.2546G>T (p.Ser849Ile) | gnomAD v4 COSMIC |
4 | g.6302333C>A | CA356179165 | WFS1 | c.2574C>A (p.Ser858Arg) c.2515C>A c.2538C>A (p.Ser846Arg) c.2289C>A (p.Ser763Arg) n.2723C>A c.2547C>A (p.Ser849Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302333C= | CA1435772628 | WFS1 | c.2574C= (p.Ser858=) c.2515C= c.2538C= (p.Ser846=) c.2289C= (p.Ser763=) n.2723C= c.2547C= (p.Ser849=) | |
4 | g.6302333C>G | CA356179166 | WFS1 | c.2574C>G (p.Ser858Arg) c.2515C>G c.2538C>G (p.Ser846Arg) c.2289C>G (p.Ser763Arg) n.2723C>G c.2547C>G (p.Ser849Arg) | |
4 | g.6302333C>T | CA2839770 | WFS1 | c.2574C>T (p.Ser858=) c.2515C>T c.2538C>T (p.Ser846=) c.2289C>T (p.Ser763=) n.2723C>T c.2547C>T (p.Ser849=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.6302333dup | CA2841725581 | WFS1 | c.2574dup (p.Cys859LeufsTer?) c.2515dup c.2538dup (p.Cys847LeufsTer?) c.2289dup (p.Cys764LeufsTer?) n.2723dup c.2547dup (p.Cys850LeufsTer?) | |
4 | g.6302334T>A | CA356179167 | WFS1 | c.2575T>A (p.Cys859Ser) c.2516T>A c.2539T>A (p.Cys847Ser) c.2290T>A (p.Cys764Ser) n.2724T>A c.2548T>A (p.Cys850Ser) | |
4 | g.6302334T>C | CA356179168 | WFS1 | c.2575T>C (p.Cys859Arg) c.2516T>C c.2539T>C (p.Cys847Arg) c.2290T>C (p.Cys764Arg) n.2724T>C c.2548T>C (p.Cys850Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302334T>G | CA356179169 | WFS1 | c.2575T>G (p.Cys859Gly) c.2516T>G c.2539T>G (p.Cys847Gly) c.2290T>G (p.Cys764Gly) n.2724T>G c.2548T>G (p.Cys850Gly) | gnomAD v4 |
4 | g.6302334T= | CA1435772632 | WFS1 | c.2575T= (p.Cys859=) c.2516T= c.2539T= (p.Cys847=) c.2290T= (p.Cys764=) n.2724T= c.2548T= (p.Cys850=) | |
4 | g.6302335G>A | CA356179170 | WFS1 | c.2576G>A (p.Cys859Tyr) c.2517G>A c.2540G>A (p.Cys847Tyr) c.2291G>A (p.Cys764Tyr) n.2725G>A c.2549G>A (p.Cys850Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302335G>C | CA356179171 | WFS1 | c.2576G>C (p.Cys859Ser) c.2517G>C c.2540G>C (p.Cys847Ser) c.2291G>C (p.Cys764Ser) n.2725G>C c.2549G>C (p.Cys850Ser) | |
4 | g.6302335G= | CA1435772635 | WFS1 | c.2576G= (p.Cys859=) c.2517G= c.2540G= (p.Cys847=) c.2291G= (p.Cys764=) n.2725G= c.2549G= (p.Cys850=) | |
4 | g.6302335G>T | CA356179172 | WFS1 | c.2576G>T (p.Cys859Phe) c.2517G>T c.2540G>T (p.Cys847Phe) c.2291G>T (p.Cys764Phe) n.2725G>T c.2549G>T (p.Cys850Phe) | |
4 | g.6302336C>A | CA356179173 | WFS1 | c.2577C>A (p.Cys859Ter) c.2518C>A c.2541C>A (p.Cys847Ter) c.2292C>A (p.Cys764Ter) n.2726C>A c.2550C>A (p.Cys850Ter) | |
4 | g.6302336C>G | CA356179174 | WFS1 | c.2577C>G (p.Cys859Trp) c.2518C>G c.2541C>G (p.Cys847Trp) c.2292C>G (p.Cys764Trp) n.2726C>G c.2550C>G (p.Cys850Trp) | |
4 | g.6302336C>T | CA438211505 | WFS1 | c.2577C>T (p.Cys859=) c.2518C>T c.2541C>T (p.Cys847=) c.2292C>T (p.Cys764=) n.2726C>T c.2550C>T (p.Cys850=) | gnomAD v4 |
4 | g.6302337C>A | CA356179176 | WFS1 | c.2578C>A (p.Leu860Ile) c.2519C>A c.2542C>A (p.Leu848Ile) c.2293C>A (p.Leu765Ile) n.2727C>A c.2551C>A (p.Leu851Ile) | |
4 | g.6302337C>G | CA356179177 | WFS1 | c.2578C>G (p.Leu860Val) c.2519C>G c.2542C>G (p.Leu848Val) c.2293C>G (p.Leu765Val) n.2727C>G c.2551C>G (p.Leu851Val) | ClinVar dbSNP gnomAD v4 |
4 | g.6302337C>T | CA356179175 | WFS1 | c.2578C>T (p.Leu860Phe) c.2519C>T c.2542C>T (p.Leu848Phe) c.2293C>T (p.Leu765Phe) n.2727C>T c.2551C>T (p.Leu851Phe) | ClinVar gnomAD v4 |
4 | g.6302338T>A | CA356179178 | WFS1 | c.2579T>A (p.Leu860His) c.2520T>A c.2543T>A (p.Leu848His) c.2294T>A (p.Leu765His) n.2728T>A c.2552T>A (p.Leu851His) | |
4 | g.6302338T>C | CA356179179 | WFS1 | c.2579T>C (p.Leu860Pro) c.2520T>C c.2543T>C (p.Leu848Pro) c.2294T>C (p.Leu765Pro) n.2728T>C c.2552T>C (p.Leu851Pro) | |
4 | g.6302338T>G | CA356179180 | WFS1 | c.2579T>G (p.Leu860Arg) c.2520T>G c.2543T>G (p.Leu848Arg) c.2294T>G (p.Leu765Arg) n.2728T>G c.2552T>G (p.Leu851Arg) | |
4 | g.6302339C>A | CA438211506 | WFS1 | c.2580C>A (p.Leu860=) c.2521C>A c.2544C>A (p.Leu848=) c.2295C>A (p.Leu765=) n.2729C>A c.2553C>A (p.Leu851=) | |
4 | g.6302339C= | CA1435772637 | WFS1 | c.2580C= (p.Leu860=) c.2521C= c.2544C= (p.Leu848=) c.2295C= (p.Leu765=) n.2729C= c.2553C= (p.Leu851=) | |
4 | g.6302339C>G | CA438211507 | WFS1 | c.2580C>G (p.Leu860=) c.2521C>G c.2544C>G (p.Leu848=) c.2295C>G (p.Leu765=) n.2729C>G c.2553C>G (p.Leu851=) | |
4 | g.6302339C>T | CA91797802 | WFS1 | c.2580C>T (p.Leu860=) c.2521C>T c.2544C>T (p.Leu848=) c.2295C>T (p.Leu765=) n.2729C>T c.2553C>T (p.Leu851=) | dbSNP gnomAD v4 |
4 | g.6302340A= | CA1435772639 | WFS1 | c.2581A= (p.Asn861=) c.2522A= c.2545A= (p.Asn849=) c.2296A= (p.Asn766=) n.2730A= c.2554A= (p.Asn852=) | |
4 | g.6302340A>C | CA2839771 | WFS1 | c.2581A>C (p.Asn861His) c.2522A>C c.2545A>C (p.Asn849His) c.2296A>C (p.Asn766His) n.2730A>C c.2554A>C (p.Asn852His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302340A>G | CA356179181 | WFS1 | c.2581A>G (p.Asn861Asp) c.2522A>G c.2545A>G (p.Asn849Asp) c.2296A>G (p.Asn766Asp) n.2730A>G c.2554A>G (p.Asn852Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302340A>T | CA356179182 | WFS1 | c.2581A>T (p.Asn861Tyr) c.2522A>T c.2545A>T (p.Asn849Tyr) c.2296A>T (p.Asn766Tyr) n.2730A>T c.2554A>T (p.Asn852Tyr) | gnomAD v4 |
4 | g.6302341A= | CA1435772641 | WFS1 | c.2582A= (p.Asn861=) c.2523A= c.2546A= (p.Asn849=) c.2297A= (p.Asn766=) n.2731A= c.2555A= (p.Asn852=) | |
4 | g.6302341A>C | CA356179183 | WFS1 | c.2582A>C (p.Asn861Thr) c.2523A>C c.2546A>C (p.Asn849Thr) c.2297A>C (p.Asn766Thr) n.2731A>C c.2555A>C (p.Asn852Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302341A>G | CA2839772 | WFS1 | c.2582A>G (p.Asn861Ser) c.2523A>G c.2546A>G (p.Asn849Ser) c.2297A>G (p.Asn766Ser) n.2731A>G c.2555A>G (p.Asn852Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302341A>T | CA356179184 | WFS1 | c.2582A>T (p.Asn861Ile) c.2523A>T c.2546A>T (p.Asn849Ile) c.2297A>T (p.Asn766Ile) n.2731A>T c.2555A>T (p.Asn852Ile) | |
4 | g.6302342C>A | CA91797807 | WFS1 | c.2583C>A (p.Asn861Lys) c.2524C>A c.2547C>A (p.Asn849Lys) c.2298C>A (p.Asn766Lys) n.2732C>A c.2556C>A (p.Asn852Lys) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302342C= | CA1435772643 | WFS1 | c.2583C= (p.Asn861=) c.2524C= c.2547C= (p.Asn849=) c.2298C= (p.Asn766=) n.2732C= c.2556C= (p.Asn852=) | |
4 | g.6302342C>G | CA356179185 | WFS1 | c.2583C>G (p.Asn861Lys) c.2524C>G c.2547C>G (p.Asn849Lys) c.2298C>G (p.Asn766Lys) n.2732C>G c.2556C>G (p.Asn852Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302342C>T | CA438211508 | WFS1 | c.2583C>T (p.Asn861=) c.2524C>T c.2547C>T (p.Asn849=) c.2298C>T (p.Asn766=) n.2732C>T c.2556C>T (p.Asn852=) | gnomAD v4 |
4 | g.6302343T>A | CA356179186 | WFS1 | c.2584T>A (p.Cys862Ser) c.2525T>A c.2548T>A (p.Cys850Ser) c.2299T>A (p.Cys767Ser) n.2733T>A c.2557T>A (p.Cys853Ser) | |
4 | g.6302343T>C | CA356179187 | WFS1 | c.2584T>C (p.Cys862Arg) c.2525T>C c.2548T>C (p.Cys850Arg) c.2299T>C (p.Cys767Arg) n.2733T>C c.2557T>C (p.Cys853Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302343T>G | CA91797809 | WFS1 | c.2584T>G (p.Cys862Gly) c.2525T>G c.2548T>G (p.Cys850Gly) c.2299T>G (p.Cys767Gly) n.2733T>G c.2557T>G (p.Cys853Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302343T= | CA1435772645 | WFS1 | c.2584T= (p.Cys862=) c.2525T= c.2548T= (p.Cys850=) c.2299T= (p.Cys767=) n.2733T= c.2557T= (p.Cys853=) | |
4 | g.6302344G>A | CA2839773 | WFS1 | c.2585G>A (p.Cys862Tyr) c.2526G>A c.2549G>A (p.Cys850Tyr) c.2300G>A (p.Cys767Tyr) n.2734G>A c.2558G>A (p.Cys853Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302344G>C | CA356179189 | WFS1 | c.2585G>C (p.Cys862Ser) c.2526G>C c.2549G>C (p.Cys850Ser) c.2300G>C (p.Cys767Ser) n.2734G>C c.2558G>C (p.Cys853Ser) | |
4 | g.6302344G= | CA1435772647 | WFS1 | c.2585G= (p.Cys862=) c.2526G= c.2549G= (p.Cys850=) c.2300G= (p.Cys767=) n.2734G= c.2558G= (p.Cys853=) | |
4 | g.6302344G>T | CA356179188 | WFS1 | c.2585G>T (p.Cys862Phe) c.2526G>T c.2549G>T (p.Cys850Phe) c.2300G>T (p.Cys767Phe) n.2734G>T c.2558G>T (p.Cys853Phe) | |
4 | g.6302345C>A | CA356179190 | WFS1 | c.2586C>A (p.Cys862Ter) c.2527C>A c.2550C>A (p.Cys850Ter) c.2301C>A (p.Cys767Ter) n.2735C>A c.2559C>A (p.Cys853Ter) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302345C= | CA1435772650 | WFS1 | c.2586C= (p.Cys862=) c.2527C= c.2550C= (p.Cys850=) c.2301C= (p.Cys767=) n.2735C= c.2559C= (p.Cys853=) | |
4 | g.6302345C>G | CA356179191 | WFS1 | c.2586C>G (p.Cys862Trp) c.2527C>G c.2550C>G (p.Cys850Trp) c.2301C>G (p.Cys767Trp) n.2735C>G c.2559C>G (p.Cys853Trp) | |
4 | g.6302345C>T | CA438211509 | WFS1 | c.2586C>T (p.Cys862=) c.2527C>T c.2550C>T (p.Cys850=) c.2301C>T (p.Cys767=) n.2735C>T c.2559C>T (p.Cys853=) | ClinVar gnomAD v4 |
4 | g.6302346A= | CA1435772652 | WFS1 | c.2587A= (p.Met863=) c.2528A= c.2551A= (p.Met851=) c.2302A= (p.Met768=) n.2736A= c.2560A= (p.Met854=) | |
4 | g.6302346A>C | CA356179193 | WFS1 | c.2587A>C (p.Met863Leu) c.2528A>C c.2551A>C (p.Met851Leu) c.2302A>C (p.Met768Leu) n.2736A>C c.2560A>C (p.Met854Leu) | |
4 | g.6302346A>G | CA356179195 | WFS1 | c.2587A>G (p.Met863Val) c.2528A>G c.2551A>G (p.Met851Val) c.2302A>G (p.Met768Val) n.2736A>G c.2560A>G (p.Met854Val) | dbSNP gnomAD v4 |
4 | g.6302346A>T | CA356179197 | WFS1 | c.2587A>T (p.Met863Leu) c.2528A>T c.2551A>T (p.Met851Leu) c.2302A>T (p.Met768Leu) n.2736A>T c.2560A>T (p.Met854Leu) | |
4 | g.6302347T>A | CA356179199 | WFS1 | c.2588T>A (p.Met863Lys) c.2529T>A c.2552T>A (p.Met851Lys) c.2303T>A (p.Met768Lys) n.2737T>A c.2561T>A (p.Met854Lys) | |
4 | g.6302347T>C | CA356179201 | WFS1 | c.2588T>C (p.Met863Thr) c.2529T>C c.2552T>C (p.Met851Thr) c.2303T>C (p.Met768Thr) n.2737T>C c.2561T>C (p.Met854Thr) | ClinVar |
4 | g.6302347T>G | CA2839775 | WFS1 | c.2588T>G (p.Met863Arg) c.2529T>G c.2552T>G (p.Met851Arg) c.2303T>G (p.Met768Arg) n.2737T>G c.2561T>G (p.Met854Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302347T= | CA1435772655 | WFS1 | c.2588T= (p.Met863=) c.2529T= c.2552T= (p.Met851=) c.2303T= (p.Met768=) n.2737T= c.2561T= (p.Met854=) | |
4 | g.6302347_6302348dup | CA2839774 | WFS1 | c.2588_2589dup (p.Ala864TrpfsTer11) c.2529_2530dup c.2552_2553dup (p.Ala852TrpfsTer11) c.2303_2304dup (p.Ala769TrpfsTer11) n.2737_2738dup c.2561_2562dup (p.Ala855TrpfsTer11) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302348G>A | CA356179204 | WFS1 | c.2589G>A (p.Met863Ile) c.2530G>A c.2553G>A (p.Met851Ile) c.2304G>A (p.Met768Ile) n.2738G>A c.2562G>A (p.Met854Ile) | |
4 | g.6302348G>C | CA356179205 | WFS1 | c.2589G>C (p.Met863Ile) c.2530G>C c.2553G>C (p.Met851Ile) c.2304G>C (p.Met768Ile) n.2738G>C c.2562G>C (p.Met854Ile) | |
4 | g.6302348G>T | CA356179207 | WFS1 | c.2589G>T (p.Met863Ile) c.2530G>T c.2553G>T (p.Met851Ile) c.2304G>T (p.Met768Ile) n.2738G>T c.2562G>T (p.Met854Ile) | |
4 | g.6302349G>A | CA356179208 | WFS1 | c.2590G>A (p.Ala864Thr) c.2531G>A c.2554G>A (p.Ala852Thr) c.2305G>A (p.Ala769Thr) n.2739G>A c.2563G>A (p.Ala855Thr) | |
4 | g.6302349G>C | CA356179212 | WFS1 | c.2590G>C (p.Ala864Pro) c.2531G>C c.2554G>C (p.Ala852Pro) c.2305G>C (p.Ala769Pro) n.2739G>C c.2563G>C (p.Ala855Pro) | |
4 | g.6302349G= | CA1435772657 | WFS1 | c.2590G= (p.Ala864=) c.2531G= c.2554G= (p.Ala852=) c.2305G= (p.Ala769=) n.2739G= c.2563G= (p.Ala855=) | |
4 | g.6302349G>T | CA356179210 | WFS1 | c.2590G>T (p.Ala864Ser) c.2531G>T c.2554G>T (p.Ala852Ser) c.2305G>T (p.Ala769Ser) n.2739G>T c.2563G>T (p.Ala855Ser) | gnomAD v4 |
4 | g.6302350C>A | CA356179216 | WFS1 | c.2591C>A (p.Ala864Asp) c.2532C>A c.2555C>A (p.Ala852Asp) c.2306C>A (p.Ala769Asp) n.2740C>A c.2564C>A (p.Ala855Asp) | |
4 | g.6302350C= | CA1435772660 | WFS1 | c.2591C= (p.Ala864=) c.2532C= c.2555C= (p.Ala852=) c.2306C= (p.Ala769=) n.2740C= c.2564C= (p.Ala855=) | |
4 | g.6302350C>G | CA356179218 | WFS1 | c.2591C>G (p.Ala864Gly) c.2532C>G c.2555C>G (p.Ala852Gly) c.2306C>G (p.Ala769Gly) n.2740C>G c.2564C>G (p.Ala855Gly) | |
4 | g.6302350C>T | CA2839776 | WFS1 | c.2591C>T (p.Ala864Val) c.2532C>T c.2555C>T (p.Ala852Val) c.2306C>T (p.Ala769Val) n.2740C>T c.2564C>T (p.Ala855Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302352del | CA2841725582 | WFS1 | c.2593del (p.Gln865SerfsTer9) c.2534del c.2557del (p.Gln853SerfsTer9) c.2308del (p.Gln770SerfsTer9) n.2742del c.2566del (p.Gln856SerfsTer9) | |
4 | g.6302350_6302355dup | CA185112 | WFS1 | c.2591_2596dup (p.Gln865_Leu866insProGln) c.2532_2537dup c.2555_2560dup (p.Gln853_Leu854insProGln) c.2306_2311dup (p.Gln770_Leu771insProGln) n.2740_2745dup c.2564_2569dup (p.Gln856_Leu857insProGln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302351C>A | CA438211510 | WFS1 | c.2592C>A (p.Ala864=) c.2533C>A c.2556C>A (p.Ala852=) c.2307C>A (p.Ala769=) n.2741C>A c.2565C>A (p.Ala855=) | gnomAD v4 |
4 | g.6302351C= | CA1435772661 | WFS1 | c.2592C= (p.Ala864=) c.2533C= c.2556C= (p.Ala852=) c.2307C= (p.Ala769=) n.2741C= c.2565C= (p.Ala855=) | |
4 | g.6302351C>G | CA2839777 | WFS1 | c.2592C>G (p.Ala864=) c.2533C>G c.2556C>G (p.Ala852=) c.2307C>G (p.Ala769=) n.2741C>G c.2565C>G (p.Ala855=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302351C>T | CA438211511 | WFS1 | c.2592C>T (p.Ala864=) c.2533C>T c.2556C>T (p.Ala852=) c.2307C>T (p.Ala769=) n.2741C>T c.2565C>T (p.Ala855=) | gnomAD v4 |
4 | g.6302352C>A | CA356179224 | WFS1 | c.2593C>A (p.Gln865Lys) c.2534C>A c.2557C>A (p.Gln853Lys) c.2308C>A (p.Gln770Lys) n.2742C>A c.2566C>A (p.Gln856Lys) | |
4 | g.6302352C>G | CA356179221 | WFS1 | c.2593C>G (p.Gln865Glu) c.2534C>G c.2557C>G (p.Gln853Glu) c.2308C>G (p.Gln770Glu) n.2742C>G c.2566C>G (p.Gln856Glu) | |
4 | g.6302352C>T | CA356179223 | WFS1 | c.2593C>T (p.Gln865Ter) c.2534C>T c.2557C>T (p.Gln853Ter) c.2308C>T (p.Gln770Ter) n.2742C>T c.2566C>T (p.Gln856Ter) | gnomAD v4 |
4 | g.6302353A>C | CA356179226 | WFS1 | c.2594A>C (p.Gln865Pro) c.2535A>C c.2558A>C (p.Gln853Pro) c.2309A>C (p.Gln770Pro) n.2743A>C c.2567A>C (p.Gln856Pro) | ClinVar |
4 | g.6302353A>G | CA356179227 | WFS1 | c.2594A>G (p.Gln865Arg) c.2535A>G c.2558A>G (p.Gln853Arg) c.2309A>G (p.Gln770Arg) n.2743A>G c.2567A>G (p.Gln856Arg) | gnomAD v4 |
4 | g.6302353A>T | CA356179229 | WFS1 | c.2594A>T (p.Gln865Leu) c.2535A>T c.2558A>T (p.Gln853Leu) c.2309A>T (p.Gln770Leu) n.2743A>T c.2567A>T (p.Gln856Leu) | gnomAD v4 |
4 | g.6302354G>A | CA438211512 | WFS1 | c.2595G>A (p.Gln865=) c.2536G>A c.2559G>A (p.Gln853=) c.2310G>A (p.Gln770=) n.2744G>A c.2568G>A (p.Gln856=) | gnomAD v4 |
4 | g.6302354G>C | CA356179230 | WFS1 | c.2595G>C (p.Gln865His) c.2536G>C c.2559G>C (p.Gln853His) c.2310G>C (p.Gln770His) n.2744G>C c.2568G>C (p.Gln856His) | |
4 | g.6302354G>T | CA356179232 | WFS1 | c.2595G>T (p.Gln865His) c.2536G>T c.2559G>T (p.Gln853His) c.2310G>T (p.Gln770His) n.2744G>T c.2568G>T (p.Gln856His) | gnomAD v4 |
4 | g.6302355C>A | CA356179235 | WFS1 | c.2596C>A (p.Leu866Ile) c.2537C>A c.2560C>A (p.Leu854Ile) c.2311C>A (p.Leu771Ile) n.2745C>A c.2569C>A (p.Leu857Ile) | |
4 | g.6302355C= | CA1435772663 | WFS1 | c.2596C= (p.Leu866=) c.2537C= c.2560C= (p.Leu854=) c.2311C= (p.Leu771=) n.2745C= c.2569C= (p.Leu857=) | |
4 | g.6302355C>G | CA356179236 | WFS1 | c.2596C>G (p.Leu866Val) c.2537C>G c.2560C>G (p.Leu854Val) c.2311C>G (p.Leu771Val) n.2745C>G c.2569C>G (p.Leu857Val) | |
4 | g.6302355C>T | CA2839778 | WFS1 | c.2596C>T (p.Leu866Phe) c.2537C>T c.2560C>T (p.Leu854Phe) c.2311C>T (p.Leu771Phe) n.2745C>T c.2569C>T (p.Leu857Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302356T>A | CA356179237 | WFS1 | c.2597T>A (p.Leu866His) c.2538T>A c.2561T>A (p.Leu854His) c.2312T>A (p.Leu771His) n.2746T>A c.2570T>A (p.Leu857His) | |
4 | g.6302356T>C | CA2839779 | WFS1 | c.2597T>C (p.Leu866Pro) c.2538T>C c.2561T>C (p.Leu854Pro) c.2312T>C (p.Leu771Pro) n.2746T>C c.2570T>C (p.Leu857Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302356T>G | CA356179239 | WFS1 | c.2597T>G (p.Leu866Arg) c.2538T>G c.2561T>G (p.Leu854Arg) c.2312T>G (p.Leu771Arg) n.2746T>G c.2570T>G (p.Leu857Arg) | |
4 | g.6302356T= | CA1435772665 | WFS1 | c.2597T= (p.Leu866=) c.2538T= c.2561T= (p.Leu854=) c.2312T= (p.Leu771=) n.2746T= c.2570T= (p.Leu857=) | |
4 | g.6302357C>A | CA438211513 | WFS1 | c.2598C>A (p.Leu866=) c.2539C>A c.2562C>A (p.Leu854=) c.2313C>A (p.Leu771=) n.2747C>A c.2571C>A (p.Leu857=) | gnomAD v4 |
4 | g.6302357C= | CA1435772667 | WFS1 | c.2598C= (p.Leu866=) c.2539C= c.2562C= (p.Leu854=) c.2313C= (p.Leu771=) n.2747C= c.2571C= (p.Leu857=) | |
4 | g.6302357C>G | CA438211514 | WFS1 | c.2598C>G (p.Leu866=) c.2539C>G c.2562C>G (p.Leu854=) c.2313C>G (p.Leu771=) n.2747C>G c.2571C>G (p.Leu857=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302357C>T | CA438211515 | WFS1 | c.2598C>T (p.Leu866=) c.2539C>T c.2562C>T (p.Leu854=) c.2313C>T (p.Leu771=) n.2747C>T c.2571C>T (p.Leu857=) | gnomAD v4 |
4 | g.6302357_6302359del | CA2760271242 | WFS1 | c.2598_2600del (p.Ser867del) c.2539_2541del c.2562_2564del (p.Ser855del) c.2313_2315del (p.Ser772del) n.2747_2749del c.2571_2573del (p.Ser858del) | |
4 | g.6302358T>A | CA356179241 | WFS1 | c.2599T>A (p.Ser867Thr) c.2540T>A c.2563T>A (p.Ser855Thr) c.2314T>A (p.Ser772Thr) n.2748T>A c.2572T>A (p.Ser858Thr) | |
4 | g.6302358T>C | CA2839780 | WFS1 | c.2599T>C (p.Ser867Pro) c.2540T>C c.2563T>C (p.Ser855Pro) c.2314T>C (p.Ser772Pro) n.2748T>C c.2572T>C (p.Ser858Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302358T>G | CA356179243 | WFS1 | c.2599T>G (p.Ser867Ala) c.2540T>G c.2563T>G (p.Ser855Ala) c.2314T>G (p.Ser772Ala) n.2748T>G c.2572T>G (p.Ser858Ala) | |
4 | g.6302358T= | CA1435772670 | WFS1 | c.2599T= (p.Ser867=) c.2540T= c.2563T= (p.Ser855=) c.2314T= (p.Ser772=) n.2748T= c.2572T= (p.Ser858=) | |
4 | g.6302358_6302360delinsCCG | CA891862708 | WFS1 | c.2599_2601delinsCCG (p.Ser867Pro) c.2540_2542delinsCCG c.2563_2565delinsCCG (p.Ser855Pro) c.2314_2316delinsCCG (p.Ser772Pro) n.2748_2750delinsCCG c.2572_2574delinsCCG (p.Ser858Pro) | ClinVar dbSNP |
4 | g.6302358_6302360delinsTCA | CA1435772672 | WFS1 | c.2599_2601delinsTCA (p.Ser867=) c.2540_2542delinsTCA c.2563_2565delinsTCA (p.Ser855=) c.2314_2316delinsTCA (p.Ser772=) n.2748_2750delinsTCA c.2572_2574delinsTCA (p.Ser858=) | |
4 | g.6302359C>A | CA356179245 | WFS1 | c.2600C>A (p.Ser867Ter) c.2541C>A c.2564C>A (p.Ser855Ter) c.2315C>A (p.Ser772Ter) n.2749C>A c.2573C>A (p.Ser858Ter) | |
4 | g.6302359C= | CA1435772674 | WFS1 | c.2600C= (p.Ser867=) c.2541C= c.2564C= (p.Ser855=) c.2315C= (p.Ser772=) n.2749C= c.2573C= (p.Ser858=) | |
4 | g.6302359C>G | CA356179247 | WFS1 | c.2600C>G (p.Ser867Ter) c.2541C>G c.2564C>G (p.Ser855Ter) c.2315C>G (p.Ser772Ter) n.2749C>G c.2573C>G (p.Ser858Ter) | |
4 | g.6302359C>T | CA2839781 | WFS1 | c.2600C>T (p.Ser867Leu) c.2541C>T c.2564C>T (p.Ser855Leu) c.2315C>T (p.Ser772Leu) n.2749C>T c.2573C>T (p.Ser858Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302359_6302360delinsTG | CA2573138345 | WFS1 | c.2600_2601delinsTG (p.Ser867Leu) c.2541_2542delinsTG c.2564_2565delinsTG (p.Ser855Leu) c.2315_2316delinsTG (p.Ser772Leu) n.2749_2750delinsTG c.2573_2574delinsTG (p.Ser858Leu) | ClinVar |
4 | g.6302360A= | CA1435772676 | WFS1 | c.2601A= (p.Ser867=) c.2542A= c.2565A= (p.Ser855=) c.2316A= (p.Ser772=) n.2750A= c.2574A= (p.Ser858=) | |
4 | g.6302360A>C | CA438211516 | WFS1 | c.2601A>C (p.Ser867=) c.2542A>C c.2565A>C (p.Ser855=) c.2316A>C (p.Ser772=) n.2750A>C c.2574A>C (p.Ser858=) | dbSNP |
4 | g.6302360A>G | CA136356 | WFS1 | c.2601A>G (p.Ser867=) c.2542A>G c.2565A>G (p.Ser855=) c.2316A>G (p.Ser772=) n.2750A>G c.2574A>G (p.Ser858=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302360A>T | CA2839782 | WFS1 | c.2601A>T (p.Ser867=) c.2542A>T c.2565A>T (p.Ser855=) c.2316A>T (p.Ser772=) n.2750A>T c.2574A>T (p.Ser858=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302360dup | CA2669843473 | WFS1 | c.2601dup (p.Pro868ThrfsTer?) c.2542dup c.2565dup (p.Pro856ThrfsTer?) c.2316dup (p.Pro773ThrfsTer?) n.2750dup c.2574dup (p.Pro859ThrfsTer?) | gnomAD v4 |
4 | g.6302361C>A | CA356179250 | WFS1 | c.2602C>A (p.Pro868Thr) c.2543C>A c.2566C>A (p.Pro856Thr) c.2317C>A (p.Pro773Thr) n.2751C>A c.2575C>A (p.Pro859Thr) | |
4 | g.6302361C>G | CA356179254 | WFS1 | c.2602C>G (p.Pro868Ala) c.2543C>G c.2566C>G (p.Pro856Ala) c.2317C>G (p.Pro773Ala) n.2751C>G c.2575C>G (p.Pro859Ala) | |
4 | g.6302361C>T | CA356179251 | WFS1 | c.2602C>T (p.Pro868Ser) c.2543C>T c.2566C>T (p.Pro856Ser) c.2317C>T (p.Pro773Ser) n.2751C>T c.2575C>T (p.Pro859Ser) | |
4 | g.6302362C>A | CA356179256 | WFS1 | c.2603C>A (p.Pro868His) c.2544C>A c.2567C>A (p.Pro856His) c.2318C>A (p.Pro773His) n.2752C>A c.2576C>A (p.Pro859His) | |
4 | g.6302362C= | CA1435772679 | WFS1 | c.2603C= (p.Pro868=) c.2544C= c.2567C= (p.Pro856=) c.2318C= (p.Pro773=) n.2752C= c.2576C= (p.Pro859=) | |
4 | g.6302362C>G | CA356179259 | WFS1 | c.2603C>G (p.Pro868Arg) c.2544C>G c.2567C>G (p.Pro856Arg) c.2318C>G (p.Pro773Arg) n.2752C>G c.2576C>G (p.Pro859Arg) | ClinVar |
4 | g.6302362C>T | CA2839783 | WFS1 | c.2603C>T (p.Pro868Leu) c.2544C>T c.2567C>T (p.Pro856Leu) c.2318C>T (p.Pro773Leu) n.2752C>T c.2576C>T (p.Pro859Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302363C>A | CA438211517 | WFS1 | c.2604C>A (p.Pro868=) c.2545C>A c.2568C>A (p.Pro856=) c.2319C>A (p.Pro773=) n.2753C>A c.2577C>A (p.Pro859=) | |
4 | g.6302363C>G | CA438211518 | WFS1 | c.2604C>G (p.Pro868=) c.2545C>G c.2568C>G (p.Pro856=) c.2319C>G (p.Pro773=) n.2753C>G c.2577C>G (p.Pro859=) | |
4 | g.6302363C>T | CA438211519 | WFS1 | c.2604C>T (p.Pro868=) c.2545C>T c.2568C>T (p.Pro856=) c.2319C>T (p.Pro773=) n.2753C>T c.2577C>T (p.Pro859=) | gnomAD v4 |
4 | g.6302364A= | CA1435772680 | WFS1 | c.2605A= (p.Thr869=) c.2546A= c.2569A= (p.Thr857=) c.2320A= (p.Thr774=) n.2754A= c.2578A= (p.Thr860=) | |
4 | g.6302364A>C | CA356179261 | WFS1 | c.2605A>C (p.Thr869Pro) c.2546A>C c.2569A>C (p.Thr857Pro) c.2320A>C (p.Thr774Pro) n.2754A>C c.2578A>C (p.Thr860Pro) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302364A>G | CA356179262 | WFS1 | c.2605A>G (p.Thr869Ala) c.2546A>G c.2569A>G (p.Thr857Ala) c.2320A>G (p.Thr774Ala) n.2754A>G c.2578A>G (p.Thr860Ala) | |
4 | g.6302364A>T | CA356179264 | WFS1 | c.2605A>T (p.Thr869Ser) c.2546A>T c.2569A>T (p.Thr857Ser) c.2320A>T (p.Thr774Ser) n.2754A>T c.2578A>T (p.Thr860Ser) | |
4 | g.6302365C>A | CA356179266 | WFS1 | c.2606C>A (p.Thr869Asn) c.2547C>A c.2570C>A (p.Thr857Asn) c.2321C>A (p.Thr774Asn) n.2755C>A c.2579C>A (p.Thr860Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302365C= | CA1435772682 | WFS1 | c.2606C= (p.Thr869=) c.2547C= c.2570C= (p.Thr857=) c.2321C= (p.Thr774=) n.2755C= c.2579C= (p.Thr860=) | |
4 | g.6302365C>G | CA356179267 | WFS1 | c.2606C>G (p.Thr869Ser) c.2547C>G c.2570C>G (p.Thr857Ser) c.2321C>G (p.Thr774Ser) n.2755C>G c.2579C>G (p.Thr860Ser) | gnomAD v4 |
4 | g.6302365C>T | CA2839784 | WFS1 | c.2606C>T (p.Thr869Ile) c.2547C>T c.2570C>T (p.Thr857Ile) c.2321C>T (p.Thr774Ile) n.2755C>T c.2579C>T (p.Thr860Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302366C>A | CA438211521 | WFS1 | c.2607C>A (p.Thr869=) c.2548C>A c.2571C>A (p.Thr857=) c.2322C>A (p.Thr774=) n.2756C>A c.2580C>A (p.Thr860=) | dbSNP gnomAD v2 |
4 | g.6302366C= | CA1435772683 | WFS1 | c.2607C= (p.Thr869=) c.2548C= c.2571C= (p.Thr857=) c.2322C= (p.Thr774=) n.2756C= c.2580C= (p.Thr860=) | |
4 | g.6302366C>G | CA438211522 | WFS1 | c.2607C>G (p.Thr869=) c.2548C>G c.2571C>G (p.Thr857=) c.2322C>G (p.Thr774=) n.2756C>G c.2580C>G (p.Thr860=) | |
4 | g.6302366C>T | CA91797834 | WFS1 | c.2607C>T (p.Thr869=) c.2548C>T c.2571C>T (p.Thr857=) c.2322C>T (p.Thr774=) n.2756C>T c.2580C>T (p.Thr860=) | ClinVar dbSNP gnomAD v4 |
4 | g.6302367A>C | CA438211524 | WFS1 | c.2608A>C (p.Arg870=) c.2549A>C c.2572A>C (p.Arg858=) c.2323A>C (p.Arg775=) n.2757A>C c.2581A>C (p.Arg861=) | |
4 | g.6302367A>G | CA356179270 | WFS1 | c.2608A>G (p.Arg870Gly) c.2549A>G c.2572A>G (p.Arg858Gly) c.2323A>G (p.Arg775Gly) n.2757A>G c.2581A>G (p.Arg861Gly) | gnomAD v4 |
4 | g.6302367A>T | CA356179271 | WFS1 | c.2608A>T (p.Arg870Trp) c.2549A>T c.2572A>T (p.Arg858Trp) c.2323A>T (p.Arg775Trp) n.2757A>T c.2581A>T (p.Arg861Trp) | |
4 | g.6302368G>A | CA2839785 | WFS1 | c.2609G>A (p.Arg870Lys) c.2550G>A c.2573G>A (p.Arg858Lys) c.2324G>A (p.Arg775Lys) n.2758G>A c.2582G>A (p.Arg861Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302368G>C | CA356179273 | WFS1 | c.2609G>C (p.Arg870Thr) c.2550G>C c.2573G>C (p.Arg858Thr) c.2324G>C (p.Arg775Thr) n.2758G>C c.2582G>C (p.Arg861Thr) | gnomAD v4 |
4 | g.6302368G= | CA1435772685 | WFS1 | c.2609G= (p.Arg870=) c.2550G= c.2573G= (p.Arg858=) c.2324G= (p.Arg775=) n.2758G= c.2582G= (p.Arg861=) | |
4 | g.6302368G>T | CA356179275 | WFS1 | c.2609G>T (p.Arg870Met) c.2550G>T c.2573G>T (p.Arg858Met) c.2324G>T (p.Arg775Met) n.2758G>T c.2582G>T (p.Arg861Met) | gnomAD v4 |
4 | g.6302369G>A | CA438211525 | WFS1 | c.2610G>A (p.Arg870=) c.2551G>A c.2574G>A (p.Arg858=) c.2325G>A (p.Arg775=) n.2759G>A c.2583G>A (p.Arg861=) | dbSNP |
4 | g.6302369G>C | CA356179277 | WFS1 | c.2610G>C (p.Arg870Ser) c.2551G>C c.2574G>C (p.Arg858Ser) c.2325G>C (p.Arg775Ser) n.2759G>C c.2583G>C (p.Arg861Ser) | |
4 | g.6302369G= | CA1435772686 | WFS1 | c.2610G= (p.Arg870=) c.2551G= c.2574G= (p.Arg858=) c.2325G= (p.Arg775=) n.2759G= c.2583G= (p.Arg861=) | |
4 | g.6302369G>T | CA356179278 | WFS1 | c.2610G>T (p.Arg870Ser) c.2551G>T c.2574G>T (p.Arg858Ser) c.2325G>T (p.Arg775Ser) n.2759G>T c.2583G>T (p.Arg861Ser) | dbSNP gnomAD v2 |