Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6302447C>A | CA356179725 | WFS1 | c.2688C>A (p.Phe896Leu) c.2629C>A c.2652C>A (p.Phe884Leu) c.2403C>A (p.Phe801Leu) n.2837C>A c.2661C>A (p.Phe887Leu) | |
4 | g.6302447C= | CA1435772814 | WFS1 | c.2688C= (p.Phe896=) c.2629C= c.2652C= (p.Phe884=) c.2403C= (p.Phe801=) n.2837C= c.2661C= (p.Phe887=) | |
4 | g.6302447C>G | CA356179728 | WFS1 | c.2688C>G (p.Phe896Leu) c.2629C>G c.2652C>G (p.Phe884Leu) c.2403C>G (p.Phe801Leu) n.2837C>G c.2661C>G (p.Phe887Leu) | ClinVar dbSNP gnomAD v4 |
4 | g.6302447C>T | CA438211602 | WFS1 | c.2688C>T (p.Phe896=) c.2629C>T c.2652C>T (p.Phe884=) c.2403C>T (p.Phe801=) n.2837C>T c.2661C>T (p.Phe887=) | gnomAD v4 COSMIC |
4 | g.6302448C>A | CA356179731 | WFS1 | c.2689C>A (p.Pro897Thr) c.2630C>A c.2653C>A (p.Pro885Thr) c.2404C>A (p.Pro802Thr) n.2838C>A c.2662C>A (p.Pro888Thr) | |
4 | g.6302448C= | CA1435772816 | WFS1 | c.2689C= (p.Pro897=) c.2630C= c.2653C= (p.Pro885=) c.2404C= (p.Pro802=) n.2838C= c.2662C= (p.Pro888=) | |
4 | g.6302448C>G | CA356179734 | WFS1 | c.2689C>G (p.Pro897Ala) c.2630C>G c.2653C>G (p.Pro885Ala) c.2404C>G (p.Pro802Ala) n.2838C>G c.2662C>G (p.Pro888Ala) | |
4 | g.6302448C>T | CA356179739 | WFS1 | c.2689C>T (p.Pro897Ser) c.2630C>T c.2653C>T (p.Pro885Ser) c.2404C>T (p.Pro802Ser) n.2838C>T c.2662C>T (p.Pro888Ser) | dbSNP COSMIC |
4 | g.6302449C>A | CA356179742 | WFS1 | c.2690C>A (p.Pro897Gln) c.2631C>A c.2654C>A (p.Pro885Gln) c.2405C>A (p.Pro802Gln) n.2839C>A c.2663C>A (p.Pro888Gln) | |
4 | g.6302449C= | CA1435772818 | WFS1 | c.2690C= (p.Pro897=) c.2631C= c.2654C= (p.Pro885=) c.2405C= (p.Pro802=) n.2839C= c.2663C= (p.Pro888=) | |
4 | g.6302449C>G | CA356179743 | WFS1 | c.2690C>G (p.Pro897Arg) c.2631C>G c.2654C>G (p.Pro885Arg) c.2405C>G (p.Pro802Arg) n.2839C>G c.2663C>G (p.Pro888Arg) | dbSNP gnomAD v4 |
4 | g.6302449C>T | CA2839823 | WFS1 | c.2690C>T (p.Pro897Leu) c.2631C>T c.2654C>T (p.Pro885Leu) c.2405C>T (p.Pro802Leu) n.2839C>T c.2663C>T (p.Pro888Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302450A= | CA1435772819 | WFS1 | c.2691A= (p.Pro897=) c.2632A= c.2655A= (p.Pro885=) c.2406A= (p.Pro802=) n.2840A= c.2664A= (p.Pro888=) | |
4 | g.6302450A>C | CA438211608 | WFS1 | c.2691A>C (p.Pro897=) c.2632A>C c.2655A>C (p.Pro885=) c.2406A>C (p.Pro802=) n.2840A>C c.2664A>C (p.Pro888=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302450A>G | CA438211606 | WFS1 | c.2691A>G (p.Pro897=) c.2632A>G c.2655A>G (p.Pro885=) c.2406A>G (p.Pro802=) n.2840A>G c.2664A>G (p.Pro888=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302450A>T | CA438211604 | WFS1 | c.2691A>T (p.Pro897=) c.2632A>T c.2655A>T (p.Pro885=) c.2406A>T (p.Pro802=) n.2840A>T c.2664A>T (p.Pro888=) | |
4 | g.6302451T>A | CA356179749 | WFS1 | c.2692T>A (p.Phe898Ile) c.2633T>A c.2656T>A (p.Phe886Ile) c.2407T>A (p.Phe803Ile) n.2841T>A c.2665T>A (p.Phe889Ile) | |
4 | g.6302451T>C | CA356179759 | WFS1 | c.2692T>C (p.Phe898Leu) c.2633T>C c.2656T>C (p.Phe886Leu) c.2407T>C (p.Phe803Leu) n.2841T>C c.2665T>C (p.Phe889Leu) | |
4 | g.6302451T>G | CA356179762 | WFS1 | c.2692T>G (p.Phe898Val) c.2633T>G c.2656T>G (p.Phe886Val) c.2407T>G (p.Phe803Val) n.2841T>G c.2665T>G (p.Phe889Val) | |
4 | g.6302451_6302452insA | CA2586973661 | WFS1 | c.2692_2693insA (p.Phe898TyrfsTer?) c.2633_2634insA c.2656_2657insA (p.Phe886TyrfsTer?) c.2407_2408insA (p.Phe803TyrfsTer?) n.2841_2842insA c.2665_2666insA (p.Phe889TyrfsTer?) | gnomAD v4 |
4 | g.6302452T>A | CA356179772 | WFS1 | c.2693T>A (p.Phe898Tyr) c.2634T>A c.2657T>A (p.Phe886Tyr) c.2408T>A (p.Phe803Tyr) n.2842T>A c.2666T>A (p.Phe889Tyr) | |
4 | g.6302452T>C | CA356179774 | WFS1 | c.2693T>C (p.Phe898Ser) c.2634T>C c.2657T>C (p.Phe886Ser) c.2408T>C (p.Phe803Ser) n.2842T>C c.2666T>C (p.Phe889Ser) | |
4 | g.6302452T>G | CA356179766 | WFS1 | c.2693T>G (p.Phe898Cys) c.2634T>G c.2657T>G (p.Phe886Cys) c.2408T>G (p.Phe803Cys) n.2842T>G c.2666T>G (p.Phe889Cys) | gnomAD v4 |
4 | g.6302453C>A | CA356179776 | WFS1 | c.2694C>A (p.Phe898Leu) c.2635C>A c.2658C>A (p.Phe886Leu) c.2409C>A (p.Phe803Leu) n.2843C>A c.2667C>A (p.Phe889Leu) | dbSNP |
4 | g.6302453C= | CA1435772821 | WFS1 | c.2694C= (p.Phe898=) c.2635C= c.2658C= (p.Phe886=) c.2409C= (p.Phe803=) n.2843C= c.2667C= (p.Phe889=) | |
4 | g.6302453C>G | CA356179780 | WFS1 | c.2694C>G (p.Phe898Leu) c.2635C>G c.2658C>G (p.Phe886Leu) c.2409C>G (p.Phe803Leu) n.2843C>G c.2667C>G (p.Phe889Leu) | dbSNP gnomAD v4 |
4 | g.6302453C>T | CA2839824 | WFS1 | c.2694C>T (p.Phe898=) c.2635C>T c.2658C>T (p.Phe886=) c.2409C>T (p.Phe803=) n.2843C>T c.2667C>T (p.Phe889=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302454C>A | CA356179786 | WFS1 | c.2695C>A (p.Leu899Met) c.2636C>A c.2659C>A (p.Leu887Met) c.2410C>A (p.Leu804Met) n.2844C>A c.2668C>A (p.Leu890Met) | |
4 | g.6302454C= | CA1435772822 | WFS1 | c.2695C= (p.Leu899=) c.2636C= c.2659C= (p.Leu887=) c.2410C= (p.Leu804=) n.2844C= c.2668C= (p.Leu890=) | |
4 | g.6302454C>G | CA356179791 | WFS1 | c.2695C>G (p.Leu899Val) c.2636C>G c.2659C>G (p.Leu887Val) c.2410C>G (p.Leu804Val) n.2844C>G c.2668C>G (p.Leu890Val) | gnomAD v4 |
4 | g.6302454C>T | CA438211609 | WFS1 | c.2695C>T (p.Leu899=) c.2636C>T c.2659C>T (p.Leu887=) c.2410C>T (p.Leu804=) n.2844C>T c.2668C>T (p.Leu890=) | ClinVar dbSNP gnomAD v4 |
4 | g.6302455T>A | CA356179796 | WFS1 | c.2696T>A (p.Leu899Gln) c.2637T>A c.2660T>A (p.Leu887Gln) c.2411T>A (p.Leu804Gln) n.2845T>A c.2669T>A (p.Leu890Gln) | |
4 | g.6302455T>C | CA356179794 | WFS1 | c.2696T>C (p.Leu899Pro) c.2637T>C c.2660T>C (p.Leu887Pro) c.2411T>C (p.Leu804Pro) n.2845T>C c.2669T>C (p.Leu890Pro) | |
4 | g.6302455T>G | CA356179795 | WFS1 | c.2696T>G (p.Leu899Arg) c.2637T>G c.2660T>G (p.Leu887Arg) c.2411T>G (p.Leu804Arg) n.2845T>G c.2669T>G (p.Leu890Arg) | |
4 | g.6302456G>A | CA438211610 | WFS1 | c.2697G>A (p.Leu899=) c.2638G>A c.2661G>A (p.Leu887=) c.2412G>A (p.Leu804=) n.2846G>A c.2670G>A (p.Leu890=) | dbSNP gnomAD v4 |
4 | g.6302456G>C | CA438211611 | WFS1 | c.2697G>C (p.Leu899=) c.2638G>C c.2661G>C (p.Leu887=) c.2412G>C (p.Leu804=) n.2846G>C c.2670G>C (p.Leu890=) | |
4 | g.6302456G= | CA1435772823 | WFS1 | c.2697G= (p.Leu899=) c.2638G= c.2661G= (p.Leu887=) c.2412G= (p.Leu804=) n.2846G= c.2670G= (p.Leu890=) | |
4 | g.6302456G>T | CA438211612 | WFS1 | c.2697G>T (p.Leu899=) c.2638G>T c.2661G>T (p.Leu887=) c.2412G>T (p.Leu804=) n.2846G>T c.2670G>T (p.Leu890=) | |
4 | g.6302457T>A | CA356179797 | WFS1 | c.2698T>A (p.Ser900Thr) c.2639T>A c.2662T>A (p.Ser888Thr) c.2413T>A (p.Ser805Thr) n.2847T>A c.2671T>A (p.Ser891Thr) | |
4 | g.6302457T>C | CA356179798 | WFS1 | c.2698T>C (p.Ser900Pro) c.2639T>C c.2662T>C (p.Ser888Pro) c.2413T>C (p.Ser805Pro) n.2847T>C c.2671T>C (p.Ser891Pro) | |
4 | g.6302457T>G | CA356179806 | WFS1 | c.2698T>G (p.Ser900Ala) c.2639T>G c.2662T>G (p.Ser888Ala) c.2413T>G (p.Ser805Ala) n.2847T>G c.2671T>G (p.Ser891Ala) | ClinVar dbSNP |
4 | g.6302457T= | CA1435772825 | WFS1 | c.2698T= (p.Ser900=) c.2639T= c.2662T= (p.Ser888=) c.2413T= (p.Ser805=) n.2847T= c.2671T= (p.Ser891=) | |
4 | g.6302457_6302460delinsTCGG | CA1435772824 | WFS1 | c.2698_2701delinsTCGG (p.Ser900=) c.2639_2642delinsTCGG c.2662_2665delinsTCGG (p.Ser888=) c.2413_2416delinsTCGG (p.Ser805=) n.2847_2850delinsTCGG c.2671_2674delinsTCGG (p.Ser891=) | |
4 | g.6302458C>A | CA356179808 | WFS1 | c.2699C>A (p.Ser900Ter) c.2640C>A c.2663C>A (p.Ser888Ter) c.2414C>A (p.Ser805Ter) n.2848C>A c.2672C>A (p.Ser891Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302458C= | CA1435772828 | WFS1 | c.2699C= (p.Ser900=) c.2640C= c.2663C= (p.Ser888=) c.2414C= (p.Ser805=) n.2848C= c.2672C= (p.Ser891=) | |
4 | g.6302458C>G | CA356179811 | WFS1 | c.2699C>G (p.Ser900Trp) c.2640C>G c.2663C>G (p.Ser888Trp) c.2414C>G (p.Ser805Trp) n.2848C>G c.2672C>G (p.Ser891Trp) | |
4 | g.6302458C>T | CA323386 | WFS1 | c.2699C>T (p.Ser900Leu) c.2640C>T c.2663C>T (p.Ser888Leu) c.2414C>T (p.Ser805Leu) n.2848C>T c.2672C>T (p.Ser891Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302462_6302464del | CA549708056 | WFS1 | c.2703_2705del (p.Ala902del) c.2644_2646del c.2667_2669del (p.Ala890del) c.2418_2420del (p.Ala807del) n.2852_2854del c.2676_2678del (p.Ala893del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302459G>A | CA2839825 | WFS1 | c.2700G>A (p.Ser900=) c.2641G>A c.2664G>A (p.Ser888=) c.2415G>A (p.Ser805=) n.2849G>A c.2673G>A (p.Ser891=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302459G>C | CA2839826 | WFS1 | c.2700G>C (p.Ser900=) c.2641G>C c.2664G>C (p.Ser888=) c.2415G>C (p.Ser805=) n.2849G>C c.2673G>C (p.Ser891=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302459G= | CA1435772830 | WFS1 | c.2700G= (p.Ser900=) c.2641G= c.2664G= (p.Ser888=) c.2415G= (p.Ser805=) n.2849G= c.2673G= (p.Ser891=) | |
4 | g.6302459G>T | CA438211615 | WFS1 | c.2700G>T (p.Ser900=) c.2641G>T c.2664G>T (p.Ser888=) c.2415G>T (p.Ser805=) n.2849G>T c.2673G>T (p.Ser891=) | dbSNP gnomAD v4 |
4 | g.6302460G>A | CA356179822 | WFS1 | c.2701G>A (p.Ala901Thr) c.2642G>A c.2665G>A (p.Ala889Thr) c.2416G>A (p.Ala806Thr) n.2850G>A c.2674G>A (p.Ala892Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
4 | g.6302460G>C | CA356179828 | WFS1 | c.2701G>C (p.Ala901Pro) c.2642G>C c.2665G>C (p.Ala889Pro) c.2416G>C (p.Ala806Pro) n.2850G>C c.2674G>C (p.Ala892Pro) | |
4 | g.6302460G= | CA1435772831 | WFS1 | c.2701G= (p.Ala901=) c.2642G= c.2665G= (p.Ala889=) c.2416G= (p.Ala806=) n.2850G= c.2674G= (p.Ala892=) | |
4 | g.6302460G>T | CA356179825 | WFS1 | c.2701G>T (p.Ala901Ser) c.2642G>T c.2665G>T (p.Ala889Ser) c.2416G>T (p.Ala806Ser) n.2850G>T c.2674G>T (p.Ala892Ser) | |
4 | g.6302461C>A | CA356179831 | WFS1 | c.2702C>A (p.Ala901Glu) c.2643C>A c.2666C>A (p.Ala889Glu) c.2417C>A (p.Ala806Glu) n.2851C>A c.2675C>A (p.Ala892Glu) | |
4 | g.6302461C= | CA1435772832 | WFS1 | c.2702C= (p.Ala901=) c.2643C= c.2666C= (p.Ala889=) c.2417C= (p.Ala806=) n.2851C= c.2675C= (p.Ala892=) | |
4 | g.6302461C>G | CA356179833 | WFS1 | c.2702C>G (p.Ala901Gly) c.2643C>G c.2666C>G (p.Ala889Gly) c.2417C>G (p.Ala806Gly) n.2851C>G c.2675C>G (p.Ala892Gly) | |
4 | g.6302461C>T | CA323493 | WFS1 | c.2702C>T (p.Ala901Val) c.2643C>T c.2666C>T (p.Ala889Val) c.2417C>T (p.Ala806Val) n.2851C>T c.2675C>T (p.Ala892Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302462G>A | CA179687 | WFS1 | c.2703G>A (p.Ala901=) c.2644G>A c.2667G>A (p.Ala889=) c.2418G>A (p.Ala806=) n.2852G>A c.2676G>A (p.Ala892=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302462G>C | CA438211617 | WFS1 | c.2703G>C (p.Ala901=) c.2644G>C c.2667G>C (p.Ala889=) c.2418G>C (p.Ala806=) n.2852G>C c.2676G>C (p.Ala892=) | |
4 | g.6302462G= | CA1435772834 | WFS1 | c.2703G= (p.Ala901=) c.2644G= c.2667G= (p.Ala889=) c.2418G= (p.Ala806=) n.2852G= c.2676G= (p.Ala892=) | |
4 | g.6302462G>T | CA438211618 | WFS1 | c.2703G>T (p.Ala901=) c.2644G>T c.2667G>T (p.Ala889=) c.2418G>T (p.Ala806=) n.2852G>T c.2676G>T (p.Ala892=) | |
4 | g.6302463G>A | CA356179840 | WFS1 | c.2704G>A (p.Ala902Thr) c.2645G>A c.2668G>A (p.Ala890Thr) c.2419G>A (p.Ala807Thr) n.2853G>A c.2677G>A (p.Ala893Thr) | |
4 | g.6302463G>C | CA356179843 | WFS1 | c.2704G>C (p.Ala902Pro) c.2645G>C c.2668G>C (p.Ala890Pro) c.2419G>C (p.Ala807Pro) n.2853G>C c.2677G>C (p.Ala893Pro) | ClinVar |
4 | g.6302463G>T | CA356179846 | WFS1 | c.2704G>T (p.Ala902Ser) c.2645G>T c.2668G>T (p.Ala890Ser) c.2419G>T (p.Ala807Ser) n.2853G>T c.2677G>T (p.Ala893Ser) | gnomAD v4 |
4 | g.6302464C>A | CA356179849 | WFS1 | c.2705C>A (p.Ala902Asp) c.2646C>A c.2669C>A (p.Ala890Asp) c.2420C>A (p.Ala807Asp) n.2854C>A c.2678C>A (p.Ala893Asp) | |
4 | g.6302464C= | CA1435772837 | WFS1 | c.2705C= (p.Ala902=) c.2646C= c.2669C= (p.Ala890=) c.2420C= (p.Ala807=) n.2854C= c.2678C= (p.Ala893=) | |
4 | g.6302464C>G | CA356179852 | WFS1 | c.2705C>G (p.Ala902Gly) c.2646C>G c.2669C>G (p.Ala890Gly) c.2420C>G (p.Ala807Gly) n.2854C>G c.2678C>G (p.Ala893Gly) | |
4 | g.6302464C>T | CA2839827 | WFS1 | c.2705C>T (p.Ala902Val) c.2646C>T c.2669C>T (p.Ala890Val) c.2420C>T (p.Ala807Val) n.2854C>T c.2678C>T (p.Ala893Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302465C>A | CA438211620 | WFS1 | c.2706C>A (p.Ala902=) c.2647C>A c.2670C>A (p.Ala890=) c.2421C>A (p.Ala807=) n.2855C>A c.2679C>A (p.Ala893=) | |
4 | g.6302465C= | CA1435772839 | WFS1 | c.2706C= (p.Ala902=) c.2647C= c.2670C= (p.Ala890=) c.2421C= (p.Ala807=) n.2855C= c.2679C= (p.Ala893=) | |
4 | g.6302465C>G | CA438211621 | WFS1 | c.2706C>G (p.Ala902=) c.2647C>G c.2670C>G (p.Ala890=) c.2421C>G (p.Ala807=) n.2855C>G c.2679C>G (p.Ala893=) | dbSNP |
4 | g.6302465C>T | CA438211622 | WFS1 | c.2706C>T (p.Ala902=) c.2647C>T c.2670C>T (p.Ala890=) c.2421C>T (p.Ala807=) n.2855C>T c.2679C>T (p.Ala893=) | |
4 | g.6302466T>A | CA356179858 | WFS1 | c.2707T>A (p.Ter903Arg) c.2648T>A c.2671T>A (p.Ter891Arg) c.2422T>A (p.Ter808Arg) n.2856T>A c.2680T>A (p.Ter894Arg) | |
4 | g.6302466T>C | CA356179860 | WFS1 | c.2707T>C (p.Ter903Arg) c.2648T>C c.2671T>C (p.Ter891Arg) c.2422T>C (p.Ter808Arg) n.2856T>C c.2680T>C (p.Ter894Arg) | |
4 | g.6302466T>G | CA91797934 | WFS1 | c.2707T>G (p.Ter903Gly) c.2648T>G c.2671T>G (p.Ter891Gly) c.2422T>G (p.Ter808Gly) n.2856T>G c.2680T>G (p.Ter894Gly) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302466T= | CA1435772840 | WFS1 | c.2707T= (p.Ter903=) c.2648T= c.2671T= (p.Ter891=) c.2422T= (p.Ter808=) n.2856T= c.2680T= (p.Ter894=) | |
4 | g.6302467G>A | CA438211626 | WFS1 | c.2708G>A (p.Ter903=) c.2649G>A c.2672G>A (p.Ter891=) c.2423G>A (p.Ter808=) n.2857G>A c.2681G>A (p.Ter894=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302467G>C | CA356179864 | WFS1 | c.2708G>C (p.Ter903Ser) c.2649G>C c.2672G>C (p.Ter891Ser) c.2423G>C (p.Ter808Ser) n.2857G>C c.2681G>C (p.Ter894Ser) | |
4 | g.6302467G= | CA1435772841 | WFS1 | c.2708G= (p.Ter903=) c.2649G= c.2672G= (p.Ter891=) c.2423G= (p.Ter808=) n.2857G= c.2681G= (p.Ter894=) | |
4 | g.6302467G>T | CA356179867 | WFS1 | c.2708G>T (p.Ter903Leu) c.2649G>T c.2672G>T (p.Ter891Leu) c.2423G>T (p.Ter808Leu) n.2857G>T c.2681G>T (p.Ter894Leu) | gnomAD v4 |
4 | g.6302468A= | CA1435772842 | WFS1 | c.2709A= (p.Ter903=) c.2650A= c.2673A= (p.Ter891=) c.2424A= (p.Ter808=) n.2858A= c.2682A= (p.Ter894=) | |
4 | g.6302468A>C | CA2839828 | WFS1 | c.2709A>C (p.Ter903Cys) c.2650A>C c.2673A>C (p.Ter891Cys) c.2424A>C (p.Ter808Cys) n.2858A>C c.2682A>C (p.Ter894Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302468A>G | CA356179875 | WFS1 | c.2709A>G (p.Ter903Trp) c.2650A>G c.2673A>G (p.Ter891Trp) c.2424A>G (p.Ter808Trp) n.2858A>G c.2682A>G (p.Ter894Trp) | gnomAD v4 |
4 | g.6302468A>T | CA356179878 | WFS1 | c.2709A>T (p.Ter903Cys) c.2650A>T c.2673A>T (p.Ter891Cys) c.2424A>T (p.Ter808Cys) n.2858A>T c.2682A>T (p.Ter894Cys) | |
4 | g.6302469G>A | CA797211571 | WFS1 | c.*1G>A (n.*1G>A) c.2651G>A n.2859G>A | dbSNP gnomAD v4 |
4 | g.6302469G>C | CA2839830 | WFS1 | c.*1G>C (n.*1G>C) c.2651G>C n.2859G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302469G= | CA1435772844 | WFS1 | c.*1G= (n.*1G=) c.2651G= n.2859G= | |
4 | g.6302469G>T | CA2839829 | WFS1 | c.*1G>T (n.*1G>T) c.2651G>T n.2859G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302470G>C | CA549708057 | WFS1 | c.*2G>C (n.*2G>C) c.2652G>C n.2860G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302470G= | CA1435772845 | WFS1 | c.*2G= (n.*2G=) c.2652G= n.2860G= | |
4 | g.6302471A= | CA1435772846 | WFS1 | c.*3A= (n.*3A=) c.2653A= n.2861A= | |
4 | g.6302471A>C | CA549708058 | WFS1 | c.*3A>C (n.*3A>C) c.2653A>C n.2861A>C | dbSNP gnomAD v2 |
4 | g.6302472T>G | CA2839831 | WFS1 | c.*4T>G (n.*4T>G) c.2654T>G n.2862T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302472T= | CA1435772848 | WFS1 | c.*4T= (n.*4T=) c.2654T= n.2862T= | |
4 | g.6302474G>A | CA2669843479 | WFS1 | c.*6G>A (n.*6G>A) c.2656G>A n.2864G>A | gnomAD v4 |
4 | g.6302474_6302475delinsGT | CA1435772849 | WFS1 | c.*6_*7delinsGT (n.*6_*7delinsGT) c.2656_2657delinsGT n.2864_2865delinsGT | |
4 | g.6302474_6302476del | CA2760271243 | WFS1 | c.*6_*8del (n.*6_*8del) c.2656_2658del n.2864_2866del | |
4 | g.6302475del | CA2839832 | WFS1 | c.*7del (n.*7del) c.2657del n.2865del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302475T>G | CA1435772851 | WFS1 | c.*7T>G (n.*7T>G) c.2657T>G n.2865T>G | dbSNP |
4 | g.6302475T= | CA1435772850 | WFS1 | c.*7T= (n.*7T=) c.2657T= n.2865T= | |
4 | g.6302476C= | CA1435772853 | WFS1 | c.*8C= (n.*8C=) c.2658C= n.2866C= | |
4 | g.6302476C>T | CA2839833 | WFS1 | c.*8C>T (n.*8C>T) c.2658C>T n.2866C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302477C= | CA1435772854 | WFS1 | c.*9C= (n.*9C=) c.2659C= n.2867C= | |
4 | g.6302477C>G | CA91797951 | WFS1 | c.*9C>G (n.*9C>G) c.2659C>G n.2867C>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302477C>T | CA2839834 | WFS1 | c.*9C>T (n.*9C>T) c.2659C>T n.2867C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302477_6302503delinsCGCCACGAGGAGCTTCCAGTGCATGTT | CA1435772855 | WFS1 | c.*9_*35delinsCGCCACGAGGAGCTTCCAGTGCATGTT (n.*9_*35delinsCGCCACGAGGAGCTTCCAGTGCATGTT) c.2659_2685delinsCGCCACGAGGAGCTTCCAGTGCATGTT n.2867_2893delinsCGCCACGAGGAGCTTCCAGTGCATGTT | |
4 | g.6302478G>A | CA2839835 | WFS1 | c.*10G>A (n.*10G>A) c.2660G>A n.2868G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302478G= | CA1435772856 | WFS1 | c.*10G= (n.*10G=) c.2660G= n.2868G= | |
4 | g.6302478G>T | CA2669843480 | WFS1 | c.*10G>T (n.*10G>T) c.2660G>T n.2868G>T | gnomAD v4 |
4 | g.6302482_6302507del | CA1435772857 | WFS1 | c.*14_*39del (n.*14_*39del) c.2664_2689del n.2872_2897del | dbSNP |
4 | g.6302479C= | CA1435772859 | WFS1 | c.*11C= (n.*11C=) c.2661C= n.2869C= | |
4 | g.6302479C>G | CA91797957 | WFS1 | c.*11C>G (n.*11C>G) c.2661C>G n.2869C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302479C>T | CA549708059 | WFS1 | c.*11C>T (n.*11C>T) c.2661C>T n.2869C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302480C>A | CA2669843481 | WFS1 | c.*12C>A (n.*12C>A) c.2662C>A n.2870C>A | gnomAD v4 |
4 | g.6302481A= | CA1435772860 | WFS1 | c.*13A= (n.*13A=) c.2663A= n.2871A= | |
4 | g.6302481A>C | CA1435772861 | WFS1 | c.*13A>C (n.*13A>C) c.2663A>C n.2871A>C | dbSNP gnomAD v4 |
4 | g.6302482C= | CA1435772863 | WFS1 | c.*14C= (n.*14C=) c.2664C= n.2872C= | |
4 | g.6302482C>G | CA2669843482 | WFS1 | c.*14C>G (n.*14C>G) c.2664C>G n.2872C>G | gnomAD v4 |
4 | g.6302482C>T | CA2839836 | WFS1 | c.*14C>T (n.*14C>T) c.2664C>T n.2872C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302482_6302508delinsCGAGGAGCTTCCAGTGCATGTTGCCAT | CA1435772864 | WFS1 | c.*14_*40delinsCGAGGAGCTTCCAGTGCATGTTGCCAT (n.*14_*40delinsCGAGGAGCTTCCAGTGCATGTTGCCAT) c.2664_2690delinsCGAGGAGCTTCCAGTGCATGTTGCCAT n.2872_2898delinsCGAGGAGCTTCCAGTGCATGTTGCCAT | |
4 | g.6302483G>A | CA2839837 | WFS1 | c.*15G>A (n.*15G>A) c.2665G>A n.2873G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302483G= | CA1435772866 | WFS1 | c.*15G= (n.*15G=) c.2665G= n.2873G= | |
4 | g.6302483G>T | CA2669843483 | WFS1 | c.*15G>T (n.*15G>T) c.2665G>T n.2873G>T | gnomAD v4 |
4 | g.6302487_6302512del | CA549708060 | WFS1 | c.*19_*44del (n.*19_*44del) c.2669_2694del n.2877_2902del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302484A= | CA1435772867 | WFS1 | c.*16A= (n.*16A=) c.2666A= n.2874A= | |
4 | g.6302484A>C | CA2839839 | WFS1 | c.*16A>C (n.*16A>C) c.2666A>C n.2874A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302484A>G | CA2839838 | WFS1 | c.*16A>G (n.*16A>G) c.2666A>G n.2874A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302484A>T | CA2669843484 | WFS1 | c.*16A>T (n.*16A>T) c.2666A>T n.2874A>T | gnomAD v4 |
4 | g.6302485G>T | CA2669843486 | WFS1 | c.*17G>T (n.*17G>T) c.2667G>T n.2875G>T | gnomAD v4 |
4 | g.6302485_6302488dup | CA2669843485 | WFS1 | c.*17_*20dup (n.*17_*20dup) c.2667_2670dup n.2875_2878dup | gnomAD v4 |
4 | g.6302486G>A | CA2839840 | WFS1 | c.*18G>A (n.*18G>A) c.2668G>A n.2876G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302486G= | CA1435772869 | WFS1 | c.*18G= (n.*18G=) c.2668G= n.2876G= | |
4 | g.6302486G>T | CA2669843487 | WFS1 | c.*18G>T (n.*18G>T) c.2668G>T n.2876G>T | dbSNP gnomAD v4 |
4 | g.6302487A= | CA1435772870 | WFS1 | c.*19A= (n.*19A=) c.2669A= n.2877A= | |
4 | g.6302487A>C | CA2839841 | WFS1 | c.*19A>C (n.*19A>C) c.2669A>C n.2877A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302488G>A | CA549708061 | WFS1 | c.*20G>A (n.*20G>A) c.2670G>A n.2878G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302488G>C | CA2669843488 | WFS1 | c.*20G>C (n.*20G>C) c.2670G>C n.2878G>C | gnomAD v4 |
4 | g.6302488G= | CA1435772871 | WFS1 | c.*20G= (n.*20G=) c.2670G= n.2878G= | |
4 | g.6302488G>T | CA2669843489 | WFS1 | c.*20G>T (n.*20G>T) c.2670G>T n.2878G>T | gnomAD v4 |
4 | g.6302489C>G | CA2669843490 | WFS1 | c.*21C>G (n.*21C>G) c.2671C>G n.2879C>G | gnomAD v4 |
4 | g.6302489C>T | CA2669843491 | WFS1 | c.*21C>T (n.*21C>T) c.2671C>T n.2879C>T | gnomAD v4 |
4 | g.6302492C>A | CA2669843492 | WFS1 | c.*24C>A (n.*24C>A) c.2674C>A n.2882C>A | gnomAD v4 |
4 | g.6302492C>G | CA2669843493 | WFS1 | c.*24C>G (n.*24C>G) c.2674C>G n.2882C>G | gnomAD v4 |
4 | g.6302492C>T | CA2760271244 | WFS1 | c.*24C>T (n.*24C>T) c.2674C>T n.2882C>T | |
4 | g.6302493C= | CA1435772872 | WFS1 | c.*25C= (n.*25C=) c.2675C= n.2883C= | |
4 | g.6302493C>T | CA549708062 | WFS1 | c.*25C>T (n.*25C>T) c.2675C>T n.2883C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302494A= | CA1435772874 | WFS1 | c.*26A= (n.*26A=) c.2676A= n.2884A= | |
4 | g.6302494A>C | CA2669843494 | WFS1 | c.*26A>C (n.*26A>C) c.2676A>C n.2884A>C | gnomAD v4 |
4 | g.6302494A>G | CA91797976 | WFS1 | c.*26A>G (n.*26A>G) c.2676A>G n.2884A>G | dbSNP gnomAD v4 |
4 | g.6302494dup | CA549708063 | WFS1 | c.*26dup (n.*26dup) c.2676dup n.2884dup | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302495G>A | CA2839842 | WFS1 | c.*27G>A (n.*27G>A) c.2677G>A n.2885G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302495G>C | CA2839843 | WFS1 | c.*27G>C (n.*27G>C) c.2677G>C n.2885G>C | dbSNP ExAC gnomAD v4 |
4 | g.6302495G= | CA1435772876 | WFS1 | c.*27G= (n.*27G=) c.2677G= n.2885G= | |
4 | g.6302495G>T | CA2669843495 | WFS1 | c.*27G>T (n.*27G>T) c.2677G>T n.2885G>T | gnomAD v4 |
4 | g.6302496T>G | CA2839844 | WFS1 | c.*28T>G (n.*28T>G) c.2678T>G n.2886T>G | dbSNP ExAC gnomAD v4 |
4 | g.6302496T= | CA1435772877 | WFS1 | c.*28T= (n.*28T=) c.2678T= n.2886T= | |
4 | g.6302497G>A | CA2669843496 | WFS1 | c.*29G>A (n.*29G>A) c.2679G>A n.2887G>A | gnomAD v4 |
4 | g.6302497G>T | CA2669843497 | WFS1 | c.*29G>T (n.*29G>T) c.2679G>T n.2887G>T | gnomAD v4 |
4 | g.6302498C>A | CA2669843498 | WFS1 | c.*30C>A (n.*30C>A) c.2680C>A n.2888C>A | gnomAD v4 |
4 | g.6302498C= | CA1435772879 | WFS1 | c.*30C= (n.*30C=) c.2680C= n.2888C= | |
4 | g.6302498C>T | CA2839845 | WFS1 | c.*30C>T (n.*30C>T) c.2680C>T n.2888C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302499A= | CA1435772881 | WFS1 | c.*31A= (n.*31A=) c.2681A= n.2889A= | |
4 | g.6302499A>C | CA2839846 | WFS1 | c.*31A>C (n.*31A>C) c.2681A>C n.2889A>C | dbSNP ExAC gnomAD v4 |
4 | g.6302499A>G | CA2669843499 | WFS1 | c.*31A>G (n.*31A>G) c.2681A>G n.2889A>G | gnomAD v4 |
4 | g.6302500T>C | CA797211660 | WFS1 | c.*32T>C (n.*32T>C) c.2682T>C n.2890T>C | dbSNP |
4 | g.6302500T>G | CA2839847 | WFS1 | c.*32T>G (n.*32T>G) c.2682T>G n.2890T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302500T= | CA1435772883 | WFS1 | c.*32T= (n.*32T=) c.2682T= n.2890T= | |
4 | g.6302501G>A | CA1435772886 | WFS1 | c.*33G>A (n.*33G>A) c.2683G>A n.2891G>A | dbSNP |
4 | g.6302501G= | CA1435772885 | WFS1 | c.*33G= (n.*33G=) c.2683G= n.2891G= | |
4 | g.6302501G>T | CA2669843500 | WFS1 | c.*33G>T (n.*33G>T) c.2683G>T n.2891G>T | gnomAD v4 |
4 | g.6302502T>G | CA2839848 | WFS1 | c.*34T>G (n.*34T>G) c.2684T>G n.2892T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302502T= | CA1435772887 | WFS1 | c.*34T= (n.*34T=) c.2684T= n.2892T= | |
4 | g.6302503T>C | CA2760271245 | WFS1 | c.*35T>C (n.*35T>C) c.2685T>C n.2893T>C | |
4 | g.6302503T>G | CA2578035822 | WFS1 | c.*35T>G (n.*35T>G) c.2685T>G n.2893T>G | |
4 | g.6302505C>A | CA549708064 | WFS1 | c.*37C>A (n.*37C>A) c.2687C>A n.2895C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302505C= | CA1435772889 | WFS1 | c.*37C= (n.*37C=) c.2687C= n.2895C= | |
4 | g.6302505C>G | CA1435772890 | WFS1 | c.*37C>G (n.*37C>G) c.2687C>G n.2895C>G | dbSNP gnomAD v4 |
4 | g.6302505C>T | CA2669843501 | WFS1 | c.*37C>T (n.*37C>T) c.2687C>T n.2895C>T | gnomAD v4 |
4 | g.6302506C= | CA1435772893 | WFS1 | c.*38C= (n.*38C=) c.2688C= n.2896C= | |
4 | g.6302506C>T | CA549708065 | WFS1 | c.*38C>T (n.*38C>T) c.2688C>T n.2896C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302507A= | CA1435772895 | WFS1 | c.*39A= (n.*39A=) c.2689A= n.2897A= | |
4 | g.6302507A>C | CA91797988 | WFS1 | c.*39A>C (n.*39A>C) c.2689A>C n.2897A>C | dbSNP |
4 | g.6302507A>G | CA2578035824 | WFS1 | c.*39A>G (n.*39A>G) c.2689A>G n.2897A>G | dbSNP gnomAD v4 |
4 | g.6302508T>A | CA2669843503 | WFS1 | c.*40T>A (n.*40T>A) c.2690T>A n.2898T>A | gnomAD v4 |
4 | g.6302508T>C | CA2578035825 | WFS1 | c.*40T>C (n.*40T>C) c.2690T>C n.2898T>C | |
4 | g.6302510_6302525del | CA2669843502 | WFS1 | c.*42_*57del (n.*42_*57del) c.2692_2707del n.2900_2915del | gnomAD v4 |
4 | g.6302509G>A | CA2839849 | WFS1 | c.*41G>A (n.*41G>A) c.2691G>A n.2899G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302509G= | CA1435772896 | WFS1 | c.*41G= (n.*41G=) c.2691G= n.2899G= | |
4 | g.6302509G>T | CA2669843504 | WFS1 | c.*41G>T (n.*41G>T) c.2691G>T n.2899G>T | gnomAD v4 |
4 | g.6302510A= | CA1435772899 | WFS1 | c.*42A= (n.*42A=) c.2692A= n.2900A= | |
4 | g.6302510A>G | CA1435772898 | WFS1 | c.*42A>G (n.*42A>G) c.2692A>G n.2900A>G | dbSNP |
4 | g.6302510_6302517dup | CA2578035826 | WFS1 | c.*42_*49dup (n.*42_*49dup) c.2692_2699dup n.2900_2907dup | gnomAD v4 |
4 | g.6302511G>A | CA549708066 | WFS1 | c.*43G>A (n.*43G>A) c.2693G>A n.2901G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302511G>C | CA2669843505 | WFS1 | c.*43G>C (n.*43G>C) c.2693G>C n.2901G>C | gnomAD v4 |
4 | g.6302511G= | CA1435772900 | WFS1 | c.*43G= (n.*43G=) c.2693G= n.2901G= | |
4 | g.6302511G>T | CA2669843506 | WFS1 | c.*43G>T (n.*43G>T) c.2693G>T n.2901G>T | gnomAD v4 |
4 | g.6302512G>T | CA2669843507 | WFS1 | c.*44G>T (n.*44G>T) c.2694G>T n.2902G>T | gnomAD v4 |
4 | g.6302513C>A | CA797211682 | WFS1 | c.*45C>A (n.*45C>A) c.2695C>A n.2903C>A | dbSNP gnomAD v4 |
4 | g.6302513C= | CA1435772901 | WFS1 | c.*45C= (n.*45C=) c.2695C= n.2903C= | |
4 | g.6302513C>T | CA549708067 | WFS1 | c.*45C>T (n.*45C>T) c.2695C>T n.2903C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302514dup | CA2578035827 | WFS1 | c.*46dup (n.*46dup) c.2696dup n.2904dup | gnomAD v4 |
4 | g.6302514C>T | CA2578035828 | WFS1 | c.*46C>T (n.*46C>T) c.2696C>T n.2904C>T | gnomAD v4 |
4 | g.6302515T>A | CA1435772904 | WFS1 | c.*47T>A (n.*47T>A) c.2697T>A n.2905T>A | dbSNP gnomAD v4 |
4 | g.6302515T>C | CA2839850 | WFS1 | c.*47T>C (n.*47T>C) c.2697T>C n.2905T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302515T>G | CA1435772905 | WFS1 | c.*47T>G (n.*47T>G) c.2697T>G n.2905T>G | dbSNP |
4 | g.6302515T= | CA1435772903 | WFS1 | c.*47T= (n.*47T=) c.2697T= n.2905T= | |
4 | g.6302515_6302516insC | CA648122072 | WFS1 | c.*47_*48insC (n.*47_*48insC) c.2697_2698insC n.2905_2906insC | |
4 | g.6302516T>C | CA2578035831 | WFS1 | c.*48T>C (n.*48T>C) c.2698T>C n.2906T>C | |
4 | g.6302516T>G | CA2839851 | WFS1 | c.*48T>G (n.*48T>G) c.2698T>G n.2906T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302516T= | CA1435772907 | WFS1 | c.*48T= (n.*48T=) c.2698T= n.2906T= | |
4 | g.6302517T>C | CA2669843508 | WFS1 | c.*49T>C (n.*49T>C) c.2699T>C n.2907T>C | gnomAD v4 |
4 | g.6302517T>G | CA2669843509 | WFS1 | c.*49T>G (n.*49T>G) c.2699T>G n.2907T>G | gnomAD v4 |
4 | g.6302518C>A | CA2669843511 | WFS1 | c.*50C>A (n.*50C>A) c.2700C>A n.2908C>A | gnomAD v4 |
4 | g.6302521del | CA2669843510 | WFS1 | c.*53del (n.*53del) c.2703del n.2911del | gnomAD v4 |
4 | g.6302519C= | CA1435772908 | WFS1 | c.*51C= (n.*51C=) c.2701C= n.2909C= | |
4 | g.6302519C>G | CA2578035832 | WFS1 | c.*51C>G (n.*51C>G) c.2701C>G n.2909C>G | |
4 | g.6302519C>T | CA2839852 | WFS1 | c.*51C>T (n.*51C>T) c.2701C>T n.2909C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302520C>A | CA2669843512 | WFS1 | c.*52C>A (n.*52C>A) c.2702C>A n.2910C>A | gnomAD v4 |
4 | g.6302520C= | CA1435772909 | WFS1 | c.*52C= (n.*52C=) c.2702C= n.2910C= | |
4 | g.6302520C>T | CA91797999 | WFS1 | c.*52C>T (n.*52C>T) c.2702C>T n.2910C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302521C>A | CA2669843513 | WFS1 | c.*53C>A (n.*53C>A) c.2703C>A n.2911C>A | gnomAD v4 |
4 | g.6302521C= | CA1435772911 | WFS1 | c.*53C= (n.*53C=) c.2703C= n.2911C= | |
4 | g.6302521C>T | CA91798002 | WFS1 | c.*53C>T (n.*53C>T) c.2703C>T n.2911C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302522A= | CA1435772913 | WFS1 | c.*54A= (n.*54A=) c.2704A= n.2912A= | |
4 | g.6302522A>C | CA91798006 | WFS1 | c.*54A>C (n.*54A>C) c.2704A>C n.2912A>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302522A>G | CA10618108 | WFS1 | c.*54A>G (n.*54A>G) c.2704A>G n.2912A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302522A>T | CA2581399110 | WFS1 | c.*54A>T (n.*54A>T) c.2704A>T n.2912A>T | |
4 | g.6302523G>A | CA91798010 | WFS1 | c.*55G>A (n.*55G>A) c.2705G>A n.2913G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302523G>C | CA797211707 | WFS1 | c.*55G>C (n.*55G>C) c.2705G>C n.2913G>C | dbSNP gnomAD v4 |
4 | g.6302523G= | CA1435772915 | WFS1 | c.*55G= (n.*55G=) c.2705G= n.2913G= | |
4 | g.6302523G>T | CA2669843514 | WFS1 | c.*55G>T (n.*55G>T) c.2705G>T n.2913G>T | gnomAD v4 |
4 | g.6302524T>C | CA2669843515 | WFS1 | c.*56T>C (n.*56T>C) c.2706T>C n.2914T>C | gnomAD v4 |
4 | g.6302525G>A | CA2669843516 | WFS1 | c.*57G>A (n.*57G>A) c.2707G>A n.2915G>A | gnomAD v4 |
4 | g.6302525G>T | CA2669843517 | WFS1 | c.*57G>T (n.*57G>T) c.2707G>T n.2915G>T | gnomAD v4 |
4 | g.6302526T>A | CA1435772917 | WFS1 | c.*58T>A (n.*58T>A) c.2708T>A n.2916T>A | dbSNP |
4 | g.6302526T>C | CA2669843518 | WFS1 | c.*58T>C (n.*58T>C) c.2708T>C n.2916T>C | gnomAD v4 |
4 | g.6302526T= | CA1435772916 | WFS1 | c.*58T= (n.*58T=) c.2708T= n.2916T= | |
4 | g.6302527G>A | CA2669843520 | WFS1 | c.*59G>A (n.*59G>A) c.2709G>A n.2917G>A | gnomAD v4 |
4 | g.6302527G>T | CA2669843519 | WFS1 | c.*59G>T (n.*59G>T) c.2709G>T n.2917G>T | gnomAD v4 |
4 | g.6302528del | CA2669843521 | WFS1 | c.*60del (n.*60del) c.2710del n.2918del | gnomAD v4 |
4 | g.6302528G>A | CA2669843522 | WFS1 | c.*60G>A (n.*60G>A) c.2710G>A n.2918G>A | gnomAD v4 |
4 | g.6302528G>T | CA2578035833 | WFS1 | c.*60G>T (n.*60G>T) c.2710G>T n.2918G>T | gnomAD v4 |
4 | g.6302528_6302529delinsGC | CA1435772918 | WFS1 | c.*60_*61delinsGC (n.*60_*61delinsGC) c.2710_2711delinsGC n.2918_2919delinsGC | |
4 | g.6302529C>A | CA2669843523 | WFS1 | c.*61C>A (n.*61C>A) c.2711C>A n.2919C>A | gnomAD v4 |
4 | g.6302529C>T | CA2669843524 | WFS1 | c.*61C>T (n.*61C>T) c.2711C>T n.2919C>T | gnomAD v4 |
4 | g.6302532del | CA549708068 | WFS1 | c.*64del (n.*64del) c.2714del n.2922del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302530C>A | CA2669843525 | WFS1 | c.*62C>A (n.*62C>A) c.2712C>A n.2920C>A | gnomAD v4 |
4 | g.6302530C>T | CA2669843526 | WFS1 | c.*62C>T (n.*62C>T) c.2712C>T n.2920C>T | gnomAD v4 |
4 | g.6302531C>A | CA2669843527 | WFS1 | c.*63C>A (n.*63C>A) c.2713C>A n.2921C>A | gnomAD v4 |
4 | g.6302531C= | CA1435772920 | WFS1 | c.*63C= (n.*63C=) c.2713C= n.2921C= | |
4 | g.6302531C>T | CA91798014 | WFS1 | c.*63C>T (n.*63C>T) c.2713C>T n.2921C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302532C>T | CA2529714365 | WFS1 | c.*64C>T (n.*64C>T) c.2714C>T n.2922C>T | gnomAD v4 |
4 | g.6302534G>A | CA91798016 | WFS1 | c.*66G>A (n.*66G>A) c.2716G>A n.2924G>A | dbSNP gnomAD v4 |
4 | g.6302534G= | CA1435772921 | WFS1 | c.*66G= (n.*66G=) c.2716G= n.2924G= | |
4 | g.6302534G>T | CA2669843528 | WFS1 | c.*66G>T (n.*66G>T) c.2716G>T n.2924G>T | gnomAD v4 |
4 | g.6302535C>A | CA2669843530 | WFS1 | c.*67C>A (n.*67C>A) c.2717C>A n.2925C>A | gnomAD v4 |
4 | g.6302535C>T | CA2669843529 | WFS1 | c.*67C>T (n.*67C>T) c.2717C>T n.2925C>T | gnomAD v4 |
4 | g.6302536C>A | CA2669843531 | WFS1 | c.*68C>A (n.*68C>A) c.2718C>A n.2926C>A | gnomAD v4 |
4 | g.6302537C>A | CA2578035834 | WFS1 | c.*69C>A (n.*69C>A) c.2719C>A n.2927C>A | gnomAD v4 |
4 | g.6302537C= | CA1435772923 | WFS1 | c.*69C= (n.*69C=) c.2719C= n.2927C= | |
4 | g.6302537C>G | CA1435772924 | WFS1 | c.*69C>G (n.*69C>G) c.2719C>G n.2927C>G | dbSNP gnomAD v4 |
4 | g.6302537C>T | CA91798020 | WFS1 | c.*69C>T (n.*69C>T) c.2719C>T n.2927C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302538G>A | CA91798023 | WFS1 | c.*70G>A (n.*70G>A) c.2720G>A n.2928G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302538G>C | CA2669843532 | WFS1 | c.*70G>C (n.*70G>C) c.2720G>C n.2928G>C | gnomAD v4 |
4 | g.6302538G= | CA1435772927 | WFS1 | c.*70G= (n.*70G=) c.2720G= n.2928G= | |
4 | g.6302538G>T | CA2669843533 | WFS1 | c.*70G>T (n.*70G>T) c.2720G>T n.2928G>T | gnomAD v4 |
4 | g.6302539A= | CA1435772928 | WFS1 | c.*71A= (n.*71A=) c.2721A= n.2929A= | |
4 | g.6302539A>C | CA549708069 | WFS1 | c.*71A>C (n.*71A>C) c.2721A>C n.2929A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302539A>G | CA797211721 | WFS1 | c.*71A>G (n.*71A>G) c.2721A>G n.2929A>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302540C>A | CA2669843534 | WFS1 | c.*72C>A (n.*72C>A) c.2722C>A n.2930C>A | gnomAD v4 |
4 | g.6302540C>G | CA2669843535 | WFS1 | c.*72C>G (n.*72C>G) c.2722C>G n.2930C>G | gnomAD v4 |
4 | g.6302540C>T | CA2669843536 | WFS1 | c.*72C>T (n.*72C>T) c.2722C>T n.2930C>T | gnomAD v4 |
4 | g.6302542G>A | CA1435772931 | WFS1 | c.*74G>A (n.*74G>A) c.2724G>A n.2932G>A | dbSNP gnomAD v4 |
4 | g.6302542G>C | CA1058893062 | WFS1 | c.*74G>C (n.*74G>C) c.2724G>C n.2932G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302542G= | CA1435772930 | WFS1 | c.*74G= (n.*74G=) c.2724G= n.2932G= | |
4 | g.6302542G>T | CA2669843537 | WFS1 | c.*74G>T (n.*74G>T) c.2724G>T n.2932G>T | gnomAD v4 |
4 | g.6302543G>A | CA2669843538 | WFS1 | c.*75G>A (n.*75G>A) c.2725G>A n.2933G>A | gnomAD v4 |
4 | g.6302543G>T | CA2669843539 | WFS1 | c.*75G>T (n.*75G>T) c.2725G>T n.2933G>T | gnomAD v4 |
4 | g.6302544C>A | CA2669843540 | WFS1 | c.*76C>A (n.*76C>A) c.2726C>A n.2934C>A | gnomAD v4 |
4 | g.6302544C>T | CA2578035835 | WFS1 | c.*76C>T (n.*76C>T) c.2726C>T n.2934C>T | gnomAD v4 |
4 | g.6302545A= | CA1435772932 | WFS1 | c.*77A= (n.*77A=) c.2727A= n.2935A= | |
4 | g.6302545A>G | CA1435772933 | WFS1 | c.*77A>G (n.*77A>G) c.2727A>G n.2935A>G | dbSNP gnomAD v4 |
4 | g.6302545A>T | CA2669843541 | WFS1 | c.*77A>T (n.*77A>T) c.2727A>T n.2935A>T | gnomAD v4 |
4 | g.6302546T>C | CA91798026 | WFS1 | c.*78T>C (n.*78T>C) c.2728T>C n.2936T>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302546T= | CA1435772934 | WFS1 | c.*78T= (n.*78T=) c.2728T= n.2936T= | |
4 | g.6302547G>A | CA2578035836 | WFS1 | c.*79G>A (n.*79G>A) c.2729G>A n.2937G>A | gnomAD v4 |
4 | g.6302547G>T | CA2669843542 | WFS1 | c.*79G>T (n.*79G>T) c.2729G>T n.2937G>T | gnomAD v4 |