Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
4 | g.6302370del | CA2841725583 | WFS1 | c.2611del (p.Arg871GlyfsTer3) c.2552del c.2575del (p.Arg859GlyfsTer3) c.2326del (p.Arg776GlyfsTer3) n.2760del c.2584del (p.Arg862GlyfsTer3) | |
4 | g.6302370C>A | CA10576642 | WFS1 | c.2611C>A (p.Arg871=) c.2552C>A c.2575C>A (p.Arg859=) c.2326C>A (p.Arg776=) n.2760C>A c.2584C>A (p.Arg862=) | ClinVar dbSNP |
4 | g.6302370C= | CA1435772688 | WFS1 | c.2611C= (p.Arg871=) c.2552C= c.2575C= (p.Arg859=) c.2326C= (p.Arg776=) n.2760C= c.2584C= (p.Arg862=) | |
4 | g.6302370C>G | CA356179281 | WFS1 | c.2611C>G (p.Arg871Gly) c.2552C>G c.2575C>G (p.Arg859Gly) c.2326C>G (p.Arg776Gly) n.2760C>G c.2584C>G (p.Arg862Gly) | |
4 | g.6302370C>T | CA2839786 | WFS1 | c.2611C>T (p.Arg871Trp) c.2552C>T c.2575C>T (p.Arg859Trp) c.2326C>T (p.Arg776Trp) n.2760C>T c.2584C>T (p.Arg862Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302371G>A | CA253207 | WFS1 | c.2612G>A (p.Arg871Gln) c.2553G>A c.2576G>A (p.Arg859Gln) c.2327G>A (p.Arg776Gln) n.2761G>A c.2585G>A (p.Arg862Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302371G>C | CA356179282 | WFS1 | c.2612G>C (p.Arg871Pro) c.2553G>C c.2576G>C (p.Arg859Pro) c.2327G>C (p.Arg776Pro) n.2761G>C c.2585G>C (p.Arg862Pro) | |
4 | g.6302371G= | CA1435772691 | WFS1 | c.2612G= (p.Arg871=) c.2553G= c.2576G= (p.Arg859=) c.2327G= (p.Arg776=) n.2761G= c.2585G= (p.Arg862=) | |
4 | g.6302371G>T | CA356179283 | WFS1 | c.2612G>T (p.Arg871Leu) c.2553G>T c.2576G>T (p.Arg859Leu) c.2327G>T (p.Arg776Leu) n.2761G>T c.2585G>T (p.Arg862Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302372G>A | CA438211527 | WFS1 | c.2613G>A (p.Arg871=) c.2554G>A c.2577G>A (p.Arg859=) c.2328G>A (p.Arg776=) n.2762G>A c.2586G>A (p.Arg862=) | dbSNP gnomAD v2 |
4 | g.6302372G>C | CA438211528 | WFS1 | c.2613G>C (p.Arg871=) c.2554G>C c.2577G>C (p.Arg859=) c.2328G>C (p.Arg776=) n.2762G>C c.2586G>C (p.Arg862=) | |
4 | g.6302372G= | CA1435772693 | WFS1 | c.2613G= (p.Arg871=) c.2554G= c.2577G= (p.Arg859=) c.2328G= (p.Arg776=) n.2762G= c.2586G= (p.Arg862=) | |
4 | g.6302372G>T | CA438211530 | WFS1 | c.2613G>T (p.Arg871=) c.2554G>T c.2577G>T (p.Arg859=) c.2328G>T (p.Arg776=) n.2762G>T c.2586G>T (p.Arg862=) | |
4 | g.6302373C>A | CA356179285 | WFS1 | c.2614C>A (p.His872Asn) c.2555C>A c.2578C>A (p.His860Asn) c.2329C>A (p.His777Asn) n.2763C>A c.2587C>A (p.His863Asn) | |
4 | g.6302373C= | CA1435772694 | WFS1 | c.2614C= (p.His872=) c.2555C= c.2578C= (p.His860=) c.2329C= (p.His777=) n.2763C= c.2587C= (p.His863=) | |
4 | g.6302373C>G | CA356179286 | WFS1 | c.2614C>G (p.His872Asp) c.2555C>G c.2578C>G (p.His860Asp) c.2329C>G (p.His777Asp) n.2763C>G c.2587C>G (p.His863Asp) | |
4 | g.6302373C>T | CA356179287 | WFS1 | c.2614C>T (p.His872Tyr) c.2555C>T c.2578C>T (p.His860Tyr) c.2329C>T (p.His777Tyr) n.2763C>T c.2587C>T (p.His863Tyr) | dbSNP COSMIC |
4 | g.6302373_6302384del | CA2580617581 | WFS1 | c.2614_2625del (p.His872_Ile875del) c.2555_2566del c.2578_2589del (p.His860_Ile863del) c.2329_2340del (p.His777_Ile780del) n.2763_2774del c.2587_2598del (p.His863_Ile866del) | |
4 | g.6302374A>C | CA356179289 | WFS1 | c.2615A>C (p.His872Pro) c.2556A>C c.2579A>C (p.His860Pro) c.2330A>C (p.His777Pro) n.2764A>C c.2588A>C (p.His863Pro) | |
4 | g.6302374A>G | CA356179291 | WFS1 | c.2615A>G (p.His872Arg) c.2556A>G c.2579A>G (p.His860Arg) c.2330A>G (p.His777Arg) n.2764A>G c.2588A>G (p.His863Arg) | |
4 | g.6302374A>T | CA356179294 | WFS1 | c.2615A>T (p.His872Leu) c.2556A>T c.2579A>T (p.His860Leu) c.2330A>T (p.His777Leu) n.2764A>T c.2588A>T (p.His863Leu) | |
4 | g.6302375C>A | CA2839787 | WFS1 | c.2616C>A (p.His872Gln) c.2557C>A c.2580C>A (p.His860Gln) c.2331C>A (p.His777Gln) n.2765C>A c.2589C>A (p.His863Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302375C= | CA1435772696 | WFS1 | c.2616C= (p.His872=) c.2557C= c.2580C= (p.His860=) c.2331C= (p.His777=) n.2765C= c.2589C= (p.His863=) | |
4 | g.6302375C>G | CA16621817 | WFS1 | c.2616C>G (p.His872Gln) c.2557C>G c.2580C>G (p.His860Gln) c.2331C>G (p.His777Gln) n.2765C>G c.2589C>G (p.His863Gln) | ClinVar dbSNP gnomAD v4 |
4 | g.6302375C>T | CA2839788 | WFS1 | c.2616C>T (p.His872=) c.2557C>T c.2580C>T (p.His860=) c.2331C>T (p.His777=) n.2765C>T c.2589C>T (p.His863=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302376G>A | CA2839789 | WFS1 | c.2617G>A (p.Val873Met) c.2558G>A c.2581G>A (p.Val861Met) c.2332G>A (p.Val778Met) n.2766G>A c.2590G>A (p.Val864Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302376G>C | CA356179296 | WFS1 | c.2617G>C (p.Val873Leu) c.2558G>C c.2581G>C (p.Val861Leu) c.2332G>C (p.Val778Leu) n.2766G>C c.2590G>C (p.Val864Leu) | gnomAD v4 |
4 | g.6302376G= | CA1435772699 | WFS1 | c.2617G= (p.Val873=) c.2558G= c.2581G= (p.Val861=) c.2332G= (p.Val778=) n.2766G= c.2590G= (p.Val864=) | |
4 | g.6302376G>T | CA356179298 | WFS1 | c.2617G>T (p.Val873Leu) c.2558G>T c.2581G>T (p.Val861Leu) c.2332G>T (p.Val778Leu) n.2766G>T c.2590G>T (p.Val864Leu) | gnomAD v4 |
4 | g.6302377T>A | CA356179299 | WFS1 | c.2618T>A (p.Val873Glu) c.2559T>A c.2582T>A (p.Val861Glu) c.2333T>A (p.Val778Glu) n.2767T>A c.2591T>A (p.Val864Glu) | dbSNP |
4 | g.6302377T>C | CA356179301 | WFS1 | c.2618T>C (p.Val873Ala) c.2559T>C c.2582T>C (p.Val861Ala) c.2333T>C (p.Val778Ala) n.2767T>C c.2591T>C (p.Val864Ala) | |
4 | g.6302377T>G | CA321956 | WFS1 | c.2618T>G (p.Val873Gly) c.2559T>G c.2582T>G (p.Val861Gly) c.2333T>G (p.Val778Gly) n.2767T>G c.2591T>G (p.Val864Gly) | dbSNP COSMIC |
4 | g.6302377T= | CA1435772701 | WFS1 | c.2618T= (p.Val873=) c.2559T= c.2582T= (p.Val861=) c.2333T= (p.Val778=) n.2767T= c.2591T= (p.Val864=) | |
4 | g.6302378G>A | CA2839790 | WFS1 | c.2619G>A (p.Val873=) c.2560G>A c.2583G>A (p.Val861=) c.2334G>A (p.Val778=) n.2768G>A c.2592G>A (p.Val864=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302378G>C | CA438211534 | WFS1 | c.2619G>C (p.Val873=) c.2560G>C c.2583G>C (p.Val861=) c.2334G>C (p.Val778=) n.2768G>C c.2592G>C (p.Val864=) | |
4 | g.6302378G= | CA1435772702 | WFS1 | c.2619G= (p.Val873=) c.2560G= c.2583G= (p.Val861=) c.2334G= (p.Val778=) n.2768G= c.2592G= (p.Val864=) | |
4 | g.6302378G>T | CA438211535 | WFS1 | c.2619G>T (p.Val873=) c.2560G>T c.2583G>T (p.Val861=) c.2334G>T (p.Val778=) n.2768G>T c.2592G>T (p.Val864=) | |
4 | g.6302380_6302382del | CA2739270018 | WFS1 | c.2621_2623del (p.Lys874del) c.2562_2564del c.2585_2587del (p.Lys862del) c.2336_2338del (p.Lys779del) n.2770_2772del c.2594_2596del (p.Lys865del) | ClinVar |
4 | g.6302379A= | CA1435772704 | WFS1 | c.2620A= (p.Lys874=) c.2561A= c.2584A= (p.Lys862=) c.2335A= (p.Lys779=) n.2769A= c.2593A= (p.Lys865=) | |
4 | g.6302379A>C | CA356179307 | WFS1 | c.2620A>C (p.Lys874Gln) c.2561A>C c.2584A>C (p.Lys862Gln) c.2335A>C (p.Lys779Gln) n.2769A>C c.2593A>C (p.Lys865Gln) | |
4 | g.6302379A>G | CA356179313 | WFS1 | c.2620A>G (p.Lys874Glu) c.2561A>G c.2584A>G (p.Lys862Glu) c.2335A>G (p.Lys779Glu) n.2769A>G c.2593A>G (p.Lys865Glu) | gnomAD v4 |
4 | g.6302379A>T | CA2839791 | WFS1 | c.2620A>T (p.Lys874Ter) c.2561A>T c.2584A>T (p.Lys862Ter) c.2335A>T (p.Lys779Ter) n.2769A>T c.2593A>T (p.Lys865Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302380A= | CA1435772705 | WFS1 | c.2621A= (p.Lys874=) c.2562A= c.2585A= (p.Lys862=) c.2336A= (p.Lys779=) n.2770A= c.2594A= (p.Lys865=) | |
4 | g.6302380A>C | CA356179319 | WFS1 | c.2621A>C (p.Lys874Thr) c.2562A>C c.2585A>C (p.Lys862Thr) c.2336A>C (p.Lys779Thr) n.2770A>C c.2594A>C (p.Lys865Thr) | dbSNP |
4 | g.6302380A>G | CA356179320 | WFS1 | c.2621A>G (p.Lys874Arg) c.2562A>G c.2585A>G (p.Lys862Arg) c.2336A>G (p.Lys779Arg) n.2770A>G c.2594A>G (p.Lys865Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302380A>T | CA356179321 | WFS1 | c.2621A>T (p.Lys874Met) c.2562A>T c.2585A>T (p.Lys862Met) c.2336A>T (p.Lys779Met) n.2770A>T c.2594A>T (p.Lys865Met) | |
4 | g.6302381G>A | CA2839792 | WFS1 | c.2622G>A (p.Lys874=) c.2563G>A c.2586G>A (p.Lys862=) c.2337G>A (p.Lys779=) n.2771G>A c.2595G>A (p.Lys865=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302381G>C | CA356179323 | WFS1 | c.2622G>C (p.Lys874Asn) c.2563G>C c.2586G>C (p.Lys862Asn) c.2337G>C (p.Lys779Asn) n.2771G>C c.2595G>C (p.Lys865Asn) | |
4 | g.6302381G= | CA1435772706 | WFS1 | c.2622G= (p.Lys874=) c.2563G= c.2586G= (p.Lys862=) c.2337G= (p.Lys779=) n.2771G= c.2595G= (p.Lys865=) | |
4 | g.6302381G>T | CA356179325 | WFS1 | c.2622G>T (p.Lys874Asn) c.2563G>T c.2586G>T (p.Lys862Asn) c.2337G>T (p.Lys779Asn) n.2771G>T c.2595G>T (p.Lys865Asn) | ClinVar dbSNP gnomAD v4 |
4 | g.6302382A= | CA1435772707 | WFS1 | c.2623A= (p.Ile875=) c.2564A= c.2587A= (p.Ile863=) c.2338A= (p.Ile780=) n.2772A= c.2596A= (p.Ile866=) | |
4 | g.6302382A>C | CA356179328 | WFS1 | c.2623A>C (p.Ile875Leu) c.2564A>C c.2587A>C (p.Ile863Leu) c.2338A>C (p.Ile780Leu) n.2772A>C c.2596A>C (p.Ile866Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302382A>G | CA356179330 | WFS1 | c.2623A>G (p.Ile875Val) c.2564A>G c.2587A>G (p.Ile863Val) c.2338A>G (p.Ile780Val) n.2772A>G c.2596A>G (p.Ile866Val) | dbSNP |
4 | g.6302382A>T | CA356179333 | WFS1 | c.2623A>T (p.Ile875Phe) c.2564A>T c.2587A>T (p.Ile863Phe) c.2338A>T (p.Ile780Phe) n.2772A>T c.2596A>T (p.Ile866Phe) | |
4 | g.6302383T>A | CA356179341 | WFS1 | c.2624T>A (p.Ile875Asn) c.2565T>A c.2588T>A (p.Ile863Asn) c.2339T>A (p.Ile780Asn) n.2773T>A c.2597T>A (p.Ile866Asn) | gnomAD v4 |
4 | g.6302383T>C | CA91797851 | WFS1 | c.2624T>C (p.Ile875Thr) c.2565T>C c.2588T>C (p.Ile863Thr) c.2339T>C (p.Ile780Thr) n.2773T>C c.2597T>C (p.Ile866Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302383T>G | CA356179345 | WFS1 | c.2624T>G (p.Ile875Ser) c.2565T>G c.2588T>G (p.Ile863Ser) c.2339T>G (p.Ile780Ser) n.2773T>G c.2597T>G (p.Ile866Ser) | |
4 | g.6302383T= | CA1435772709 | WFS1 | c.2624T= (p.Ile875=) c.2565T= c.2588T= (p.Ile863=) c.2339T= (p.Ile780=) n.2773T= c.2597T= (p.Ile866=) | |
4 | g.6302384C>A | CA2839795 | WFS1 | c.2625C>A (p.Ile875=) c.2566C>A c.2589C>A (p.Ile863=) c.2340C>A (p.Ile780=) n.2774C>A c.2598C>A (p.Ile866=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302384C= | CA1435772710 | WFS1 | c.2625C= (p.Ile875=) c.2566C= c.2589C= (p.Ile863=) c.2340C= (p.Ile780=) n.2774C= c.2598C= (p.Ile866=) | |
4 | g.6302384C>G | CA2839794 | WFS1 | c.2625C>G (p.Ile875Met) c.2566C>G c.2589C>G (p.Ile863Met) c.2340C>G (p.Ile780Met) n.2774C>G c.2598C>G (p.Ile866Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302384C>T | CA2839793 | WFS1 | c.2625C>T (p.Ile875=) c.2566C>T c.2589C>T (p.Ile863=) c.2340C>T (p.Ile780=) n.2774C>T c.2598C>T (p.Ile866=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302384_6302385insTCG | CA1058892867 | WFS1 | c.2625_2626insTCG (p.Ile875_Glu876insSer) c.2566_2567insTCG c.2589_2590insTCG (p.Ile863_Glu864insSer) c.2340_2341insTCG (p.Ile780_Glu781insSer) n.2774_2775insTCG c.2598_2599insTCG (p.Ile866_Glu867insSer) | gnomAD v3 gnomAD v4 |
4 | g.6302385G>A | CA116903 | WFS1 | c.2626G>A (p.Glu876Lys) c.2567G>A c.2590G>A (p.Glu864Lys) c.2341G>A (p.Glu781Lys) n.2775G>A c.2599G>A (p.Glu867Lys) | ClinVar dbSNP |
4 | g.6302385G>C | CA356179356 | WFS1 | c.2626G>C (p.Glu876Gln) c.2567G>C c.2590G>C (p.Glu864Gln) c.2341G>C (p.Glu781Gln) n.2775G>C c.2599G>C (p.Glu867Gln) | |
4 | g.6302385G= | CA1435772712 | WFS1 | c.2626G= (p.Glu876=) c.2567G= c.2590G= (p.Glu864=) c.2341G= (p.Glu781=) n.2775G= c.2599G= (p.Glu867=) | |
4 | g.6302385G>T | CA356179358 | WFS1 | c.2626G>T (p.Glu876Ter) c.2567G>T c.2590G>T (p.Glu864Ter) c.2341G>T (p.Glu781Ter) n.2775G>T c.2599G>T (p.Glu867Ter) | gnomAD v4 |
4 | g.6302386A>C | CA356179364 | WFS1 | c.2627A>C (p.Glu876Ala) c.2568A>C c.2591A>C (p.Glu864Ala) c.2342A>C (p.Glu781Ala) n.2776A>C c.2600A>C (p.Glu867Ala) | |
4 | g.6302386A>G | CA356179366 | WFS1 | c.2627A>G (p.Glu876Gly) c.2568A>G c.2591A>G (p.Glu864Gly) c.2342A>G (p.Glu781Gly) n.2776A>G c.2600A>G (p.Glu867Gly) | gnomAD v4 |
4 | g.6302386A>T | CA356179362 | WFS1 | c.2627A>T (p.Glu876Val) c.2568A>T c.2591A>T (p.Glu864Val) c.2342A>T (p.Glu781Val) n.2776A>T c.2600A>T (p.Glu867Val) | |
4 | g.6302386_6302393del | CA1058892874 | WFS1 | c.2627_2634del (p.Glu876ValfsTer?) c.2568_2575del c.2591_2598del (p.Glu864ValfsTer?) c.2342_2349del (p.Glu781ValfsTer?) n.2776_2783del c.2600_2607del (p.Glu867ValfsTer?) | gnomAD v3 gnomAD v4 |
4 | g.6302387G>A | CA438211543 | WFS1 | c.2628G>A (p.Glu876=) c.2569G>A c.2592G>A (p.Glu864=) c.2343G>A (p.Glu781=) n.2777G>A c.2601G>A (p.Glu867=) | gnomAD v4 |
4 | g.6302387G>C | CA356179370 | WFS1 | c.2628G>C (p.Glu876Asp) c.2569G>C c.2592G>C (p.Glu864Asp) c.2343G>C (p.Glu781Asp) n.2777G>C c.2601G>C (p.Glu867Asp) | |
4 | g.6302387G>T | CA356179369 | WFS1 | c.2628G>T (p.Glu876Asp) c.2569G>T c.2592G>T (p.Glu864Asp) c.2343G>T (p.Glu781Asp) n.2777G>T c.2601G>T (p.Glu867Asp) | gnomAD v4 |
4 | g.6302388C>A | CA356179372 | WFS1 | c.2629C>A (p.His877Asn) c.2570C>A c.2593C>A (p.His865Asn) c.2344C>A (p.His782Asn) n.2778C>A c.2602C>A (p.His868Asn) | |
4 | g.6302388C>G | CA356179374 | WFS1 | c.2629C>G (p.His877Asp) c.2570C>G c.2593C>G (p.His865Asp) c.2344C>G (p.His782Asp) n.2778C>G c.2602C>G (p.His868Asp) | gnomAD v4 |
4 | g.6302388C>T | CA356179377 | WFS1 | c.2629C>T (p.His877Tyr) c.2570C>T c.2593C>T (p.His865Tyr) c.2344C>T (p.His782Tyr) n.2778C>T c.2602C>T (p.His868Tyr) | ClinVar gnomAD v4 |
4 | g.6302389A>C | CA356179379 | WFS1 | c.2630A>C (p.His877Pro) c.2571A>C c.2594A>C (p.His865Pro) c.2345A>C (p.His782Pro) n.2779A>C c.2603A>C (p.His868Pro) | |
4 | g.6302389A>G | CA356179383 | WFS1 | c.2630A>G (p.His877Arg) c.2571A>G c.2594A>G (p.His865Arg) c.2345A>G (p.His782Arg) n.2779A>G c.2603A>G (p.His868Arg) | gnomAD v4 |
4 | g.6302389A>T | CA356179385 | WFS1 | c.2630A>T (p.His877Leu) c.2571A>T c.2594A>T (p.His865Leu) c.2345A>T (p.His782Leu) n.2779A>T c.2603A>T (p.His868Leu) | |
4 | g.6302390C>A | CA2839797 | WFS1 | c.2631C>A (p.His877Gln) c.2572C>A c.2595C>A (p.His865Gln) c.2346C>A (p.His782Gln) n.2780C>A c.2604C>A (p.His868Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302390C= | CA1435772714 | WFS1 | c.2631C= (p.His877=) c.2572C= c.2595C= (p.His865=) c.2346C= (p.His782=) n.2780C= c.2604C= (p.His868=) | |
4 | g.6302390C>G | CA356179388 | WFS1 | c.2631C>G (p.His877Gln) c.2572C>G c.2595C>G (p.His865Gln) c.2346C>G (p.His782Gln) n.2780C>G c.2604C>G (p.His868Gln) | |
4 | g.6302390C>T | CA2839796 | WFS1 | c.2631C>T (p.His877=) c.2572C>T c.2595C>T (p.His865=) c.2346C>T (p.His782=) n.2780C>T c.2604C>T (p.His868=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302391G>A | CA182744 | WFS1 | c.2632G>A (p.Asp878Asn) c.2573G>A c.2596G>A (p.Asp866Asn) c.2347G>A (p.Asp783Asn) n.2781G>A c.2605G>A (p.Asp869Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302391G>C | CA356179394 | WFS1 | c.2632G>C (p.Asp878His) c.2573G>C c.2596G>C (p.Asp866His) c.2347G>C (p.Asp783His) n.2781G>C c.2605G>C (p.Asp869His) | |
4 | g.6302391G= | CA1435772716 | WFS1 | c.2632G= (p.Asp878=) c.2573G= c.2596G= (p.Asp866=) c.2347G= (p.Asp783=) n.2781G= c.2605G= (p.Asp869=) | |
4 | g.6302391G>T | CA2839798 | WFS1 | c.2632G>T (p.Asp878Tyr) c.2573G>T c.2596G>T (p.Asp866Tyr) c.2347G>T (p.Asp783Tyr) n.2781G>T c.2605G>T (p.Asp869Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302392A>C | CA356179402 | WFS1 | c.2633A>C (p.Asp878Ala) c.2574A>C c.2597A>C (p.Asp866Ala) c.2348A>C (p.Asp783Ala) n.2782A>C c.2606A>C (p.Asp869Ala) | |
4 | g.6302392A>G | CA356179399 | WFS1 | c.2633A>G (p.Asp878Gly) c.2574A>G c.2597A>G (p.Asp866Gly) c.2348A>G (p.Asp783Gly) n.2782A>G c.2606A>G (p.Asp869Gly) | ClinVar dbSNP gnomAD v4 |
4 | g.6302392A>T | CA356179397 | WFS1 | c.2633A>T (p.Asp878Val) c.2574A>T c.2597A>T (p.Asp866Val) c.2348A>T (p.Asp783Val) n.2782A>T c.2606A>T (p.Asp869Val) | |
4 | g.6302393C>A | CA356179404 | WFS1 | c.2634C>A (p.Asp878Glu) c.2575C>A c.2598C>A (p.Asp866Glu) c.2349C>A (p.Asp783Glu) n.2783C>A c.2607C>A (p.Asp869Glu) | |
4 | g.6302393C= | CA1435772718 | WFS1 | c.2634C= (p.Asp878=) c.2575C= c.2598C= (p.Asp866=) c.2349C= (p.Asp783=) n.2783C= c.2607C= (p.Asp869=) | |
4 | g.6302393C>G | CA2839799 | WFS1 | c.2634C>G (p.Asp878Glu) c.2575C>G c.2598C>G (p.Asp866Glu) c.2349C>G (p.Asp783Glu) n.2783C>G c.2607C>G (p.Asp869Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302393C>T | CA438211546 | WFS1 | c.2634C>T (p.Asp878=) c.2575C>T c.2598C>T (p.Asp866=) c.2349C>T (p.Asp783=) n.2783C>T c.2607C>T (p.Asp869=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302394T>A | CA356179409 | WFS1 | c.2635T>A (p.Trp879Arg) c.2576T>A c.2599T>A (p.Trp867Arg) c.2350T>A (p.Trp784Arg) n.2784T>A c.2608T>A (p.Trp870Arg) | |
4 | g.6302394T>C | CA356179410 | WFS1 | c.2635T>C (p.Trp879Arg) c.2576T>C c.2599T>C (p.Trp867Arg) c.2350T>C (p.Trp784Arg) n.2784T>C c.2608T>C (p.Trp870Arg) | dbSNP |
4 | g.6302394T>G | CA356179414 | WFS1 | c.2635T>G (p.Trp879Gly) c.2576T>G c.2599T>G (p.Trp867Gly) c.2350T>G (p.Trp784Gly) n.2784T>G c.2608T>G (p.Trp870Gly) | gnomAD v4 |
4 | g.6302394T= | CA1435772720 | WFS1 | c.2635T= (p.Trp879=) c.2576T= c.2599T= (p.Trp867=) c.2350T= (p.Trp784=) n.2784T= c.2608T= (p.Trp870=) | |
4 | g.6302400_6302416dup | CA2669843475 | WFS1 | c.2641_2657dup (p.Val887AlafsTer7) c.2582_2598dup c.2605_2621dup (p.Val875AlafsTer7) c.2356_2372dup (p.Val792AlafsTer7) n.2790_2806dup c.2614_2630dup (p.Val878AlafsTer7) | gnomAD v4 |
4 | g.6302400_6302416del | CA2669843476 | WFS1 | c.2641_2657del (p.Ser881ArgfsTer?) c.2582_2598del c.2605_2621del (p.Ser869ArgfsTer?) c.2356_2372del (p.Ser786ArgfsTer?) n.2790_2806del c.2614_2630del (p.Ser872ArgfsTer?) | gnomAD v4 |
4 | g.6302395G>A | CA356179417 | WFS1 | c.2636G>A (p.Trp879Ter) c.2577G>A c.2600G>A (p.Trp867Ter) c.2351G>A (p.Trp784Ter) n.2785G>A c.2609G>A (p.Trp870Ter) | ClinVar dbSNP gnomAD v4 |
4 | g.6302395G>C | CA356179420 | WFS1 | c.2636G>C (p.Trp879Ser) c.2577G>C c.2600G>C (p.Trp867Ser) c.2351G>C (p.Trp784Ser) n.2785G>C c.2609G>C (p.Trp870Ser) | |
4 | g.6302395G= | CA1435772721 | WFS1 | c.2636G= (p.Trp879=) c.2577G= c.2600G= (p.Trp867=) c.2351G= (p.Trp784=) n.2785G= c.2609G= (p.Trp870=) | |
4 | g.6302395G>T | CA356179422 | WFS1 | c.2636G>T (p.Trp879Leu) c.2577G>T c.2600G>T (p.Trp867Leu) c.2351G>T (p.Trp784Leu) n.2785G>T c.2609G>T (p.Trp870Leu) | |
4 | g.6302396G>A | CA356179424 | WFS1 | c.2637G>A (p.Trp879Ter) c.2578G>A c.2601G>A (p.Trp867Ter) c.2352G>A (p.Trp784Ter) n.2786G>A c.2610G>A (p.Trp870Ter) | |
4 | g.6302396G>C | CA356179426 | WFS1 | c.2637G>C (p.Trp879Cys) c.2578G>C c.2601G>C (p.Trp867Cys) c.2352G>C (p.Trp784Cys) n.2786G>C c.2610G>C (p.Trp870Cys) | ClinVar dbSNP gnomAD v4 |
4 | g.6302396G>T | CA356179429 | WFS1 | c.2637G>T (p.Trp879Cys) c.2578G>T c.2601G>T (p.Trp867Cys) c.2352G>T (p.Trp784Cys) n.2786G>T c.2610G>T (p.Trp870Cys) | |
4 | g.6302396_6302397insT | CA1058892891 | WFS1 | c.2637_2638insT (p.Arg880SerfsTer?) c.2578_2579insT c.2601_2602insT (p.Arg868SerfsTer?) c.2352_2353insT (p.Arg785SerfsTer?) n.2786_2787insT c.2610_2611insT (p.Arg871SerfsTer?) | gnomAD v3 gnomAD v4 |
4 | g.6302397C>A | CA356179434 | WFS1 | c.2638C>A (p.Arg880Ser) c.2579C>A c.2602C>A (p.Arg868Ser) c.2353C>A (p.Arg785Ser) n.2787C>A c.2611C>A (p.Arg871Ser) | |
4 | g.6302397C= | CA1435772723 | WFS1 | c.2638C= (p.Arg880=) c.2579C= c.2602C= (p.Arg868=) c.2353C= (p.Arg785=) n.2787C= c.2611C= (p.Arg871=) | |
4 | g.6302397C>G | CA356179436 | WFS1 | c.2638C>G (p.Arg880Gly) c.2579C>G c.2602C>G (p.Arg868Gly) c.2353C>G (p.Arg785Gly) n.2787C>G c.2611C>G (p.Arg871Gly) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302397C>T | CA2839800 | WFS1 | c.2638C>T (p.Arg880Cys) c.2579C>T c.2602C>T (p.Arg868Cys) c.2353C>T (p.Arg785Cys) n.2787C>T c.2611C>T (p.Arg871Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302398G>A | CA324220 | WFS1 | c.2639G>A (p.Arg880His) c.2580G>A c.2603G>A (p.Arg868His) c.2354G>A (p.Arg785His) n.2788G>A c.2612G>A (p.Arg871His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302398G>C | CA91797871 | WFS1 | c.2639G>C (p.Arg880Pro) c.2580G>C c.2603G>C (p.Arg868Pro) c.2354G>C (p.Arg785Pro) n.2788G>C c.2612G>C (p.Arg871Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302398G= | CA1435772725 | WFS1 | c.2639G= (p.Arg880=) c.2580G= c.2603G= (p.Arg868=) c.2354G= (p.Arg785=) n.2788G= c.2612G= (p.Arg871=) | |
4 | g.6302398G>T | CA356179437 | WFS1 | c.2639G>T (p.Arg880Leu) c.2580G>T c.2603G>T (p.Arg868Leu) c.2354G>T (p.Arg785Leu) n.2788G>T c.2612G>T (p.Arg871Leu) | |
4 | g.6302399C>A | CA438211551 | WFS1 | c.2640C>A (p.Arg880=) c.2581C>A c.2604C>A (p.Arg868=) c.2355C>A (p.Arg785=) n.2789C>A c.2613C>A (p.Arg871=) | gnomAD v4 |
4 | g.6302399C= | CA1435772727 | WFS1 | c.2640C= (p.Arg880=) c.2581C= c.2604C= (p.Arg868=) c.2355C= (p.Arg785=) n.2789C= c.2613C= (p.Arg871=) | |
4 | g.6302399C>G | CA438211552 | WFS1 | c.2640C>G (p.Arg880=) c.2581C>G c.2604C>G (p.Arg868=) c.2355C>G (p.Arg785=) n.2789C>G c.2613C>G (p.Arg871=) | |
4 | g.6302399C>T | CA2839801 | WFS1 | c.2640C>T (p.Arg880=) c.2581C>T c.2604C>T (p.Arg868=) c.2355C>T (p.Arg785=) n.2789C>T c.2613C>T (p.Arg871=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302400A= | CA1435772729 | WFS1 | c.2641A= (p.Ser881=) c.2582A= c.2605A= (p.Ser869=) c.2356A= (p.Ser786=) n.2790A= c.2614A= (p.Ser872=) | |
4 | g.6302400A>C | CA356179439 | WFS1 | c.2641A>C (p.Ser881Arg) c.2582A>C c.2605A>C (p.Ser869Arg) c.2356A>C (p.Ser786Arg) n.2790A>C c.2614A>C (p.Ser872Arg) | |
4 | g.6302400A>G | CA91797876 | WFS1 | c.2641A>G (p.Ser881Gly) c.2582A>G c.2605A>G (p.Ser869Gly) c.2356A>G (p.Ser786Gly) n.2790A>G c.2614A>G (p.Ser872Gly) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302400A>T | CA356179442 | WFS1 | c.2641A>T (p.Ser881Cys) c.2582A>T c.2605A>T (p.Ser869Cys) c.2356A>T (p.Ser786Cys) n.2790A>T c.2614A>T (p.Ser872Cys) | |
4 | g.6302400_6302411del | CA2586973657 | WFS1 | c.2641_2652del (p.Ser881_His884del) c.2582_2593del c.2605_2616del (p.Ser869_His872del) c.2356_2367del (p.Ser786_His789del) n.2790_2801del c.2614_2625del (p.Ser872_His875del) | |
4 | g.6302400_6302401insAGCACCGTGCAT | CA2586973659 | WFS1 | c.2641_2642insAGCACCGTGCAT (p.Ser881delinsLysHisArgAlaCys) c.2582_2583insAGCACCGTGCAT c.2605_2606insAGCACCGTGCAT (p.Ser869delinsLysHisArgAlaCys) c.2356_2357insAGCACCGTGCAT (p.Ser786delinsLysHisArgAlaCys) n.2790_2791insAGCACCGTGCAT c.2614_2615insAGCACCGTGCAT (p.Ser872delinsLysHisArgAlaCys) | |
4 | g.6302401G>A | CA2839802 | WFS1 | c.2642G>A (p.Ser881Asn) c.2583G>A c.2606G>A (p.Ser869Asn) c.2357G>A (p.Ser786Asn) n.2791G>A c.2615G>A (p.Ser872Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302401G>C | CA356179448 | WFS1 | c.2642G>C (p.Ser881Thr) c.2583G>C c.2606G>C (p.Ser869Thr) c.2357G>C (p.Ser786Thr) n.2791G>C c.2615G>C (p.Ser872Thr) | |
4 | g.6302401G= | CA1435772730 | WFS1 | c.2642G= (p.Ser881=) c.2583G= c.2606G= (p.Ser869=) c.2357G= (p.Ser786=) n.2791G= c.2615G= (p.Ser872=) | |
4 | g.6302401G>T | CA356179450 | WFS1 | c.2642G>T (p.Ser881Ile) c.2583G>T c.2606G>T (p.Ser869Ile) c.2357G>T (p.Ser786Ile) n.2791G>T c.2615G>T (p.Ser872Ile) | |
4 | g.6302403_6302414dup | CA2586973658 | WFS1 | c.2644_2655dup (p.Gly885_Ala886insThrValHisGly) c.2585_2596dup c.2608_2619dup (p.Gly873_Ala874insThrValHisGly) c.2359_2370dup (p.Gly790_Ala791insThrValHisGly) n.2793_2804dup c.2617_2628dup (p.Gly876_Ala877insThrValHisGly) | |
4 | g.6302403_6302414del | CA2669843477 | WFS1 | c.2644_2655del (p.Thr882_Gly885del) c.2585_2596del c.2608_2619del (p.Thr870_Gly873del) c.2359_2370del (p.Thr787_Gly790del) n.2793_2804del c.2617_2628del (p.Thr873_Gly876del) | gnomAD v4 |
4 | g.6302402_6302418dup | CA2669843478 | WFS1 | c.2643_2659dup (p.Val887AlafsTer7) c.2584_2600dup c.2607_2623dup (p.Val875AlafsTer7) c.2358_2374dup (p.Val792AlafsTer7) n.2792_2808dup c.2616_2632dup (p.Val878AlafsTer7) | gnomAD v4 |
4 | g.6302402C>A | CA356179453 | WFS1 | c.2643C>A (p.Ser881Arg) c.2584C>A c.2607C>A (p.Ser869Arg) c.2358C>A (p.Ser786Arg) n.2792C>A c.2616C>A (p.Ser872Arg) | |
4 | g.6302402C= | CA1435772732 | WFS1 | c.2643C= (p.Ser881=) c.2584C= c.2607C= (p.Ser869=) c.2358C= (p.Ser786=) n.2792C= c.2616C= (p.Ser872=) | |
4 | g.6302402C>G | CA356179454 | WFS1 | c.2643C>G (p.Ser881Arg) c.2584C>G c.2607C>G (p.Ser869Arg) c.2358C>G (p.Ser786Arg) n.2792C>G c.2616C>G (p.Ser872Arg) | gnomAD v4 |
4 | g.6302402C>T | CA438211556 | WFS1 | c.2643C>T (p.Ser881=) c.2584C>T c.2607C>T (p.Ser869=) c.2358C>T (p.Ser786=) n.2792C>T c.2616C>T (p.Ser872=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302403A= | CA1435772734 | WFS1 | c.2644A= (p.Thr882=) c.2585A= c.2608A= (p.Thr870=) c.2359A= (p.Thr787=) n.2793A= c.2617A= (p.Thr873=) | |
4 | g.6302403A>C | CA2839803 | WFS1 | c.2644A>C (p.Thr882Pro) c.2585A>C c.2608A>C (p.Thr870Pro) c.2359A>C (p.Thr787Pro) n.2793A>C c.2617A>C (p.Thr873Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302403A>G | CA356179458 | WFS1 | c.2644A>G (p.Thr882Ala) c.2585A>G c.2608A>G (p.Thr870Ala) c.2359A>G (p.Thr787Ala) n.2793A>G c.2617A>G (p.Thr873Ala) | |
4 | g.6302403A>T | CA356179461 | WFS1 | c.2644A>T (p.Thr882Ser) c.2585A>T c.2608A>T (p.Thr870Ser) c.2359A>T (p.Thr787Ser) n.2793A>T c.2617A>T (p.Thr873Ser) | |
4 | g.6302404C>A | CA356179468 | WFS1 | c.2645C>A (p.Thr882Asn) c.2586C>A c.2609C>A (p.Thr870Asn) c.2360C>A (p.Thr787Asn) n.2794C>A c.2618C>A (p.Thr873Asn) | |
4 | g.6302404C= | CA1435772736 | WFS1 | c.2645C= (p.Thr882=) c.2586C= c.2609C= (p.Thr870=) c.2360C= (p.Thr787=) n.2794C= c.2618C= (p.Thr873=) | |
4 | g.6302404C>G | CA356179466 | WFS1 | c.2645C>G (p.Thr882Ser) c.2586C>G c.2609C>G (p.Thr870Ser) c.2360C>G (p.Thr787Ser) n.2794C>G c.2618C>G (p.Thr873Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302404C>T | CA356179463 | WFS1 | c.2645C>T (p.Thr882Ile) c.2586C>T c.2609C>T (p.Thr870Ile) c.2360C>T (p.Thr787Ile) n.2794C>T c.2618C>T (p.Thr873Ile) | gnomAD v4 |
4 | g.6302409_6302420del | CA2586973660 | WFS1 | c.2650_2661del (p.His884_Val887del) c.2591_2602del c.2614_2625del (p.His872_Val875del) c.2365_2376del (p.His789_Val792del) n.2799_2810del c.2623_2634del (p.His875_Val878del) | ClinVar gnomAD v4 |
4 | g.6302405C>A | CA438211559 | WFS1 | c.2646C>A (p.Thr882=) c.2587C>A c.2610C>A (p.Thr870=) c.2361C>A (p.Thr787=) n.2795C>A c.2619C>A (p.Thr873=) | |
4 | g.6302405C= | CA1435772738 | WFS1 | c.2646C= (p.Thr882=) c.2587C= c.2610C= (p.Thr870=) c.2361C= (p.Thr787=) n.2795C= c.2619C= (p.Thr873=) | |
4 | g.6302405C>G | CA438211561 | WFS1 | c.2646C>G (p.Thr882=) c.2587C>G c.2610C>G (p.Thr870=) c.2361C>G (p.Thr787=) n.2795C>G c.2619C>G (p.Thr873=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302405C>T | CA179685 | WFS1 | c.2646C>T (p.Thr882=) c.2587C>T c.2610C>T (p.Thr870=) c.2361C>T (p.Thr787=) n.2795C>T c.2619C>T (p.Thr873=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302406G>A | CA285655 | WFS1 | c.2647G>A (p.Val883Met) c.2588G>A c.2611G>A (p.Val871Met) c.2362G>A (p.Val788Met) n.2796G>A c.2620G>A (p.Val874Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302406G>C | CA356179472 | WFS1 | c.2647G>C (p.Val883Leu) c.2588G>C c.2611G>C (p.Val871Leu) c.2362G>C (p.Val788Leu) n.2796G>C c.2620G>C (p.Val874Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302406G= | CA1435772740 | WFS1 | c.2647G= (p.Val883=) c.2588G= c.2611G= (p.Val871=) c.2362G= (p.Val788=) n.2796G= c.2620G= (p.Val874=) | |
4 | g.6302406G>T | CA356179475 | WFS1 | c.2647G>T (p.Val883Leu) c.2588G>T c.2611G>T (p.Val871Leu) c.2362G>T (p.Val788Leu) n.2796G>T c.2620G>T (p.Val874Leu) | |
4 | g.6302407T>A | CA356179477 | WFS1 | c.2648T>A (p.Val883Glu) c.2589T>A c.2612T>A (p.Val871Glu) c.2363T>A (p.Val788Glu) n.2797T>A c.2621T>A (p.Val874Glu) | |
4 | g.6302407T>C | CA356179480 | WFS1 | c.2648T>C (p.Val883Ala) c.2589T>C c.2612T>C (p.Val871Ala) c.2363T>C (p.Val788Ala) n.2797T>C c.2621T>C (p.Val874Ala) | |
4 | g.6302407T>G | CA2839804 | WFS1 | c.2648T>G (p.Val883Gly) c.2589T>G c.2612T>G (p.Val871Gly) c.2363T>G (p.Val788Gly) n.2797T>G c.2621T>G (p.Val874Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302407T= | CA1435772741 | WFS1 | c.2648T= (p.Val883=) c.2589T= c.2612T= (p.Val871=) c.2363T= (p.Val788=) n.2797T= c.2621T= (p.Val874=) | |
4 | g.6302408G>A | CA438211566 | WFS1 | c.2649G>A (p.Val883=) c.2590G>A c.2613G>A (p.Val871=) c.2364G>A (p.Val788=) n.2798G>A c.2622G>A (p.Val874=) | |
4 | g.6302408G>C | CA438211568 | WFS1 | c.2649G>C (p.Val883=) c.2590G>C c.2613G>C (p.Val871=) c.2364G>C (p.Val788=) n.2798G>C c.2622G>C (p.Val874=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302408G= | CA1435772743 | WFS1 | c.2649G= (p.Val883=) c.2590G= c.2613G= (p.Val871=) c.2364G= (p.Val788=) n.2798G= c.2622G= (p.Val874=) | |
4 | g.6302408G>T | CA438211567 | WFS1 | c.2649G>T (p.Val883=) c.2590G>T c.2613G>T (p.Val871=) c.2364G>T (p.Val788=) n.2798G>T c.2622G>T (p.Val874=) | gnomAD v3 gnomAD v4 |
4 | g.6302409C>A | CA356179483 | WFS1 | c.2650C>A (p.His884Asn) c.2591C>A c.2614C>A (p.His872Asn) c.2365C>A (p.His789Asn) n.2799C>A c.2623C>A (p.His875Asn) | |
4 | g.6302409C= | CA1435772744 | WFS1 | c.2650C= (p.His884=) c.2591C= c.2614C= (p.His872=) c.2365C= (p.His789=) n.2799C= c.2623C= (p.His875=) | |
4 | g.6302409C>G | CA356179485 | WFS1 | c.2650C>G (p.His884Asp) c.2591C>G c.2614C>G (p.His872Asp) c.2365C>G (p.His789Asp) n.2799C>G c.2623C>G (p.His875Asp) | |
4 | g.6302409C>T | CA356179486 | WFS1 | c.2650C>T (p.His884Tyr) c.2591C>T c.2614C>T (p.His872Tyr) c.2365C>T (p.His789Tyr) n.2799C>T c.2623C>T (p.His875Tyr) | dbSNP |
4 | g.6302410A= | CA1435772746 | WFS1 | c.2651A= (p.His884=) c.2592A= c.2615A= (p.His872=) c.2366A= (p.His789=) n.2800A= c.2624A= (p.His875=) | |
4 | g.6302410A>C | CA356179488 | WFS1 | c.2651A>C (p.His884Pro) c.2592A>C c.2615A>C (p.His872Pro) c.2366A>C (p.His789Pro) n.2800A>C c.2624A>C (p.His875Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302410A>G | CA2839805 | WFS1 | c.2651A>G (p.His884Arg) c.2592A>G c.2615A>G (p.His872Arg) c.2366A>G (p.His789Arg) n.2800A>G c.2624A>G (p.His875Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302410A>T | CA356179491 | WFS1 | c.2651A>T (p.His884Leu) c.2592A>T c.2615A>T (p.His872Leu) c.2366A>T (p.His789Leu) n.2800A>T c.2624A>T (p.His875Leu) | gnomAD v4 |
4 | g.6302411T>A | CA356179498 | WFS1 | c.2652T>A (p.His884Gln) c.2593T>A c.2616T>A (p.His872Gln) c.2367T>A (p.His789Gln) n.2801T>A c.2625T>A (p.His875Gln) | |
4 | g.6302411T>C | CA438211569 | WFS1 | c.2652T>C (p.His884=) c.2593T>C c.2616T>C (p.His872=) c.2367T>C (p.His789=) n.2801T>C c.2625T>C (p.His875=) | |
4 | g.6302411T>G | CA356179496 | WFS1 | c.2652T>G (p.His884Gln) c.2593T>G c.2616T>G (p.His872Gln) c.2367T>G (p.His789Gln) n.2801T>G c.2625T>G (p.His875Gln) | |
4 | g.6302412G>A | CA356179500 | WFS1 | c.2653G>A (p.Gly885Ser) c.2594G>A c.2617G>A (p.Gly873Ser) c.2368G>A (p.Gly790Ser) n.2802G>A c.2626G>A (p.Gly876Ser) | |
4 | g.6302412G>C | CA356179501 | WFS1 | c.2653G>C (p.Gly885Arg) c.2594G>C c.2617G>C (p.Gly873Arg) c.2368G>C (p.Gly790Arg) n.2802G>C c.2626G>C (p.Gly876Arg) | |
4 | g.6302412G>T | CA356179504 | WFS1 | c.2653G>T (p.Gly885Cys) c.2594G>T c.2617G>T (p.Gly873Cys) c.2368G>T (p.Gly790Cys) n.2802G>T c.2626G>T (p.Gly876Cys) | |
4 | g.6302413del | CA2834000483 | WFS1 | c.2654del (p.Gly885AlafsTer3) c.2595del c.2618del (p.Gly873AlafsTer3) c.2369del (p.Gly790AlafsTer3) n.2803del c.2627del (p.Gly876AlafsTer3) | |
4 | g.6302413G>A | CA356179505 | WFS1 | c.2654G>A (p.Gly885Asp) c.2595G>A c.2618G>A (p.Gly873Asp) c.2369G>A (p.Gly790Asp) n.2803G>A c.2627G>A (p.Gly876Asp) | dbSNP |
4 | g.6302413G>C | CA356179508 | WFS1 | c.2654G>C (p.Gly885Ala) c.2595G>C c.2618G>C (p.Gly873Ala) c.2369G>C (p.Gly790Ala) n.2803G>C c.2627G>C (p.Gly876Ala) | |
4 | g.6302413G= | CA1435772747 | WFS1 | c.2654G= (p.Gly885=) c.2595G= c.2618G= (p.Gly873=) c.2369G= (p.Gly790=) n.2803G= c.2627G= (p.Gly876=) | |
4 | g.6302413G>T | CA356179510 | WFS1 | c.2654G>T (p.Gly885Val) c.2595G>T c.2618G>T (p.Gly873Val) c.2369G>T (p.Gly790Val) n.2803G>T c.2627G>T (p.Gly876Val) | gnomAD v4 |
4 | g.6302414C>A | CA438211571 | WFS1 | c.2655C>A (p.Gly885=) c.2596C>A c.2619C>A (p.Gly873=) c.2370C>A (p.Gly790=) n.2804C>A c.2628C>A (p.Gly876=) | |
4 | g.6302414C= | CA1435772749 | WFS1 | c.2655C= (p.Gly885=) c.2596C= c.2619C= (p.Gly873=) c.2370C= (p.Gly790=) n.2804C= c.2628C= (p.Gly876=) | |
4 | g.6302414C>G | CA438211573 | WFS1 | c.2655C>G (p.Gly885=) c.2596C>G c.2619C>G (p.Gly873=) c.2370C>G (p.Gly790=) n.2804C>G c.2628C>G (p.Gly876=) | |
4 | g.6302414C>T | CA2839806 | WFS1 | c.2655C>T (p.Gly885=) c.2596C>T c.2619C>T (p.Gly873=) c.2370C>T (p.Gly790=) n.2804C>T c.2628C>T (p.Gly876=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302415G>A | CA2839807 | WFS1 | c.2656G>A (p.Ala886Thr) c.2597G>A c.2620G>A (p.Ala874Thr) c.2371G>A (p.Ala791Thr) n.2805G>A c.2629G>A (p.Ala877Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302415G>C | CA356179517 | WFS1 | c.2656G>C (p.Ala886Pro) c.2597G>C c.2620G>C (p.Ala874Pro) c.2371G>C (p.Ala791Pro) n.2805G>C c.2629G>C (p.Ala877Pro) | ClinVar dbSNP gnomAD v4 |
4 | g.6302415G= | CA1435772751 | WFS1 | c.2656G= (p.Ala886=) c.2597G= c.2620G= (p.Ala874=) c.2371G= (p.Ala791=) n.2805G= c.2629G= (p.Ala877=) | |
4 | g.6302415G>T | CA356179519 | WFS1 | c.2656G>T (p.Ala886Ser) c.2597G>T c.2620G>T (p.Ala874Ser) c.2371G>T (p.Ala791Ser) n.2805G>T c.2629G>T (p.Ala877Ser) | |
4 | g.6302416C>A | CA356179521 | WFS1 | c.2657C>A (p.Ala886Asp) c.2598C>A c.2621C>A (p.Ala874Asp) c.2372C>A (p.Ala791Asp) n.2806C>A c.2630C>A (p.Ala877Asp) | ClinVar dbSNP |
4 | g.6302416C= | CA1435772753 | WFS1 | c.2657C= (p.Ala886=) c.2598C= c.2621C= (p.Ala874=) c.2372C= (p.Ala791=) n.2806C= c.2630C= (p.Ala877=) | |
4 | g.6302416C>G | CA2839808 | WFS1 | c.2657C>G (p.Ala886Gly) c.2598C>G c.2621C>G (p.Ala874Gly) c.2372C>G (p.Ala791Gly) n.2806C>G c.2630C>G (p.Ala877Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302416C>T | CA356179524 | WFS1 | c.2657C>T (p.Ala886Val) c.2598C>T c.2621C>T (p.Ala874Val) c.2372C>T (p.Ala791Val) n.2806C>T c.2630C>T (p.Ala877Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302417C>A | CA438211574 | WFS1 | c.2658C>A (p.Ala886=) c.2599C>A c.2622C>A (p.Ala874=) c.2373C>A (p.Ala791=) n.2807C>A c.2631C>A (p.Ala877=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302417C= | CA1435772755 | WFS1 | c.2658C= (p.Ala886=) c.2599C= c.2622C= (p.Ala874=) c.2373C= (p.Ala791=) n.2807C= c.2631C= (p.Ala877=) | |
4 | g.6302417C>G | CA438211576 | WFS1 | c.2658C>G (p.Ala886=) c.2599C>G c.2622C>G (p.Ala874=) c.2373C>G (p.Ala791=) n.2807C>G c.2631C>G (p.Ala877=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302417C>T | CA2839809 | WFS1 | c.2658C>T (p.Ala886=) c.2599C>T c.2622C>T (p.Ala874=) c.2373C>T (p.Ala791=) n.2807C>T c.2631C>T (p.Ala877=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302418G>A | CA2839810 | WFS1 | c.2659G>A (p.Val887Met) c.2600G>A c.2623G>A (p.Val875Met) c.2374G>A (p.Val792Met) n.2808G>A c.2632G>A (p.Val878Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302418G>C | CA356179529 | WFS1 | c.2659G>C (p.Val887Leu) c.2600G>C c.2623G>C (p.Val875Leu) c.2374G>C (p.Val792Leu) n.2808G>C c.2632G>C (p.Val878Leu) | dbSNP |
4 | g.6302418G= | CA1435772758 | WFS1 | c.2659G= (p.Val887=) c.2600G= c.2623G= (p.Val875=) c.2374G= (p.Val792=) n.2808G= c.2632G= (p.Val878=) | |
4 | g.6302418G>T | CA356179527 | WFS1 | c.2659G>T (p.Val887Leu) c.2600G>T c.2623G>T (p.Val875Leu) c.2374G>T (p.Val792Leu) n.2808G>T c.2632G>T (p.Val878Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302419T>A | CA356179532 | WFS1 | c.2660T>A (p.Val887Glu) c.2601T>A c.2624T>A (p.Val875Glu) c.2375T>A (p.Val792Glu) n.2809T>A c.2633T>A (p.Val878Glu) | |
4 | g.6302419T>C | CA356179534 | WFS1 | c.2660T>C (p.Val887Ala) c.2601T>C c.2624T>C (p.Val875Ala) c.2375T>C (p.Val792Ala) n.2809T>C c.2633T>C (p.Val878Ala) | ClinVar dbSNP gnomAD v4 |
4 | g.6302419T>G | CA356179536 | WFS1 | c.2660T>G (p.Val887Gly) c.2601T>G c.2624T>G (p.Val875Gly) c.2375T>G (p.Val792Gly) n.2809T>G c.2633T>G (p.Val878Gly) | |
4 | g.6302419T= | CA1435772760 | WFS1 | c.2660T= (p.Val887=) c.2601T= c.2624T= (p.Val875=) c.2375T= (p.Val792=) n.2809T= c.2633T= (p.Val878=) | |
4 | g.6302420G>A | CA438211578 | WFS1 | c.2661G>A (p.Val887=) c.2602G>A c.2625G>A (p.Val875=) c.2376G>A (p.Val792=) n.2810G>A c.2634G>A (p.Val878=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302420G>C | CA438211579 | WFS1 | c.2661G>C (p.Val887=) c.2602G>C c.2625G>C (p.Val875=) c.2376G>C (p.Val792=) n.2810G>C c.2634G>C (p.Val878=) | gnomAD v4 |
4 | g.6302420G= | CA1435772762 | WFS1 | c.2661G= (p.Val887=) c.2602G= c.2625G= (p.Val875=) c.2376G= (p.Val792=) n.2810G= c.2634G= (p.Val878=) | |
4 | g.6302420G>T | CA438211580 | WFS1 | c.2661G>T (p.Val887=) c.2602G>T c.2625G>T (p.Val875=) c.2376G>T (p.Val792=) n.2810G>T c.2634G>T (p.Val878=) |