Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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=) | |
4 | g.6302421A= | CA1435772764 | WFS1 | c.2662A= (p.Lys888=) c.2603A= c.2626A= (p.Lys876=) c.2377A= (p.Lys793=) n.2811A= c.2635A= (p.Lys879=) | |
4 | g.6302421A>C | CA356179539 | WFS1 | c.2662A>C (p.Lys888Gln) c.2603A>C c.2626A>C (p.Lys876Gln) c.2377A>C (p.Lys793Gln) n.2811A>C c.2635A>C (p.Lys879Gln) | dbSNP gnomAD v4 |
4 | g.6302421A>G | CA356179542 | WFS1 | c.2662A>G (p.Lys888Glu) c.2603A>G c.2626A>G (p.Lys876Glu) c.2377A>G (p.Lys793Glu) n.2811A>G c.2635A>G (p.Lys879Glu) | |
4 | g.6302421A>T | CA356179544 | WFS1 | c.2662A>T (p.Lys888Ter) c.2603A>T c.2626A>T (p.Lys876Ter) c.2377A>T (p.Lys793Ter) n.2811A>T c.2635A>T (p.Lys879Ter) | |
4 | g.6302422A= | CA1435772766 | WFS1 | c.2663A= (p.Lys888=) c.2604A= c.2627A= (p.Lys876=) c.2378A= (p.Lys793=) n.2812A= c.2636A= (p.Lys879=) | |
4 | g.6302422A>C | CA2839811 | WFS1 | c.2663A>C (p.Lys888Thr) c.2604A>C c.2627A>C (p.Lys876Thr) c.2378A>C (p.Lys793Thr) n.2812A>C c.2636A>C (p.Lys879Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302422A>G | CA2839812 | WFS1 | c.2663A>G (p.Lys888Arg) c.2604A>G c.2627A>G (p.Lys876Arg) c.2378A>G (p.Lys793Arg) n.2812A>G c.2636A>G (p.Lys879Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302422A>T | CA356179549 | WFS1 | c.2663A>T (p.Lys888Met) c.2604A>T c.2627A>T (p.Lys876Met) c.2378A>T (p.Lys793Met) n.2812A>T c.2636A>T (p.Lys879Met) | |
4 | g.6302423G>A | CA438211581 | WFS1 | c.2664G>A (p.Lys888=) c.2605G>A c.2628G>A (p.Lys876=) c.2379G>A (p.Lys793=) n.2813G>A c.2637G>A (p.Lys879=) | dbSNP |
4 | g.6302423G>C | CA356179552 | WFS1 | c.2664G>C (p.Lys888Asn) c.2605G>C c.2628G>C (p.Lys876Asn) c.2379G>C (p.Lys793Asn) n.2813G>C c.2637G>C (p.Lys879Asn) | |
4 | g.6302423G= | CA1435772768 | WFS1 | c.2664G= (p.Lys888=) c.2605G= c.2628G= (p.Lys876=) c.2379G= (p.Lys793=) n.2813G= c.2637G= (p.Lys879=) | |
4 | g.6302423G>T | CA356179554 | WFS1 | c.2664G>T (p.Lys888Asn) c.2605G>T c.2628G>T (p.Lys876Asn) c.2379G>T (p.Lys793Asn) n.2813G>T c.2637G>T (p.Lys879Asn) | |
4 | g.6302424T>A | CA356179557 | WFS1 | c.2665T>A (p.Phe889Ile) c.2606T>A c.2629T>A (p.Phe877Ile) c.2380T>A (p.Phe794Ile) n.2814T>A c.2638T>A (p.Phe880Ile) | |
4 | g.6302424T>C | CA356179559 | WFS1 | c.2665T>C (p.Phe889Leu) c.2606T>C c.2629T>C (p.Phe877Leu) c.2380T>C (p.Phe794Leu) n.2814T>C c.2638T>C (p.Phe880Leu) | |
4 | g.6302424T>G | CA356179561 | WFS1 | c.2665T>G (p.Phe889Val) c.2606T>G c.2629T>G (p.Phe877Val) c.2380T>G (p.Phe794Val) n.2814T>G c.2638T>G (p.Phe880Val) | gnomAD v4 |
4 | g.6302425T>A | CA356179566 | WFS1 | c.2666T>A (p.Phe889Tyr) c.2607T>A c.2630T>A (p.Phe877Tyr) c.2381T>A (p.Phe794Tyr) n.2815T>A c.2639T>A (p.Phe880Tyr) | |
4 | g.6302425T>C | CA356179567 | WFS1 | c.2666T>C (p.Phe889Ser) c.2607T>C c.2630T>C (p.Phe877Ser) c.2381T>C (p.Phe794Ser) n.2815T>C c.2639T>C (p.Phe880Ser) | |
4 | g.6302425T>G | CA356179564 | WFS1 | c.2666T>G (p.Phe889Cys) c.2607T>G c.2630T>G (p.Phe877Cys) c.2381T>G (p.Phe794Cys) n.2815T>G c.2639T>G (p.Phe880Cys) | |
4 | g.6302426C>A | CA356179570 | WFS1 | c.2667C>A (p.Phe889Leu) c.2608C>A c.2631C>A (p.Phe877Leu) c.2382C>A (p.Phe794Leu) n.2816C>A c.2640C>A (p.Phe880Leu) | |
4 | g.6302426C= | CA1435772770 | WFS1 | c.2667C= (p.Phe889=) c.2608C= c.2631C= (p.Phe877=) c.2382C= (p.Phe794=) n.2816C= c.2640C= (p.Phe880=) | |
4 | g.6302426C>G | CA356179572 | WFS1 | c.2667C>G (p.Phe889Leu) c.2608C>G c.2631C>G (p.Phe877Leu) c.2382C>G (p.Phe794Leu) n.2816C>G c.2640C>G (p.Phe880Leu) | |
4 | g.6302426C>T | CA2839813 | WFS1 | c.2667C>T (p.Phe889=) c.2608C>T c.2631C>T (p.Phe877=) c.2382C>T (p.Phe794=) n.2816C>T c.2640C>T (p.Phe880=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302427G>A | CA2839814 | WFS1 | c.2668G>A (p.Ala890Thr) c.2609G>A c.2632G>A (p.Ala878Thr) c.2383G>A (p.Ala795Thr) n.2817G>A c.2641G>A (p.Ala881Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302427G>C | CA356179579 | WFS1 | c.2668G>C (p.Ala890Pro) c.2609G>C c.2632G>C (p.Ala878Pro) c.2383G>C (p.Ala795Pro) n.2817G>C c.2641G>C (p.Ala881Pro) | gnomAD v4 |
4 | g.6302427G= | CA1435772772 | WFS1 | c.2668G= (p.Ala890=) c.2609G= c.2632G= (p.Ala878=) c.2383G= (p.Ala795=) n.2817G= c.2641G= (p.Ala881=) | |
4 | g.6302427G>T | CA356179581 | WFS1 | c.2668G>T (p.Ala890Ser) c.2609G>T c.2632G>T (p.Ala878Ser) c.2383G>T (p.Ala795Ser) n.2817G>T c.2641G>T (p.Ala881Ser) | gnomAD v4 |
4 | g.6302428C>A | CA356179584 | WFS1 | c.2669C>A (p.Ala890Asp) c.2610C>A c.2633C>A (p.Ala878Asp) c.2384C>A (p.Ala795Asp) n.2818C>A c.2642C>A (p.Ala881Asp) | |
4 | g.6302428C>G | CA356179586 | WFS1 | c.2669C>G (p.Ala890Gly) c.2610C>G c.2633C>G (p.Ala878Gly) c.2384C>G (p.Ala795Gly) n.2818C>G c.2642C>G (p.Ala881Gly) | |
4 | g.6302428C>T | CA356179588 | WFS1 | c.2669C>T (p.Ala890Val) c.2610C>T c.2633C>T (p.Ala878Val) c.2384C>T (p.Ala795Val) n.2818C>T c.2642C>T (p.Ala881Val) | |
4 | g.6302428_6302434delinsCCTTCGA | CA1435772775 | WFS1 | c.2669_2675delinsCCTTCGA (p.Ala890=) c.2610_2616delinsCCTTCGA c.2633_2639delinsCCTTCGA (p.Ala878=) c.2384_2390delinsCCTTCGA (p.Ala795=) n.2818_2824delinsCCTTCGA c.2642_2648delinsCCTTCGA (p.Ala881=) | |
4 | g.6302429C>A | CA438211586 | WFS1 | c.2670C>A (p.Ala890=) c.2611C>A c.2634C>A (p.Ala878=) c.2385C>A (p.Ala795=) n.2819C>A c.2643C>A (p.Ala881=) | |
4 | g.6302429C= | CA1435772778 | WFS1 | c.2670C= (p.Ala890=) c.2611C= c.2634C= (p.Ala878=) c.2385C= (p.Ala795=) n.2819C= c.2643C= (p.Ala881=) | |
4 | g.6302429C>G | CA438211588 | WFS1 | c.2670C>G (p.Ala890=) c.2611C>G c.2634C>G (p.Ala878=) c.2385C>G (p.Ala795=) n.2819C>G c.2643C>G (p.Ala881=) | |
4 | g.6302429C>T | CA438211587 | WFS1 | c.2670C>T (p.Ala890=) c.2611C>T c.2634C>T (p.Ala878=) c.2385C>T (p.Ala795=) n.2819C>T c.2643C>T (p.Ala881=) | dbSNP gnomAD v4 |
4 | g.6302433_6302438del | CA797211390 | WFS1 | c.2674_2679del (p.Asp892_Phe893del) c.2615_2620del c.2638_2643del (p.Asp880_Phe881del) c.2389_2394del (p.Asp797_Phe798del) n.2823_2828del c.2647_2652del (p.Asp883_Phe884del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302430T>A | CA356179591 | WFS1 | c.2671T>A (p.Phe891Ile) c.2612T>A c.2635T>A (p.Phe879Ile) c.2386T>A (p.Phe796Ile) n.2820T>A c.2644T>A (p.Phe882Ile) | |
4 | g.6302430T>C | CA356179593 | WFS1 | c.2671T>C (p.Phe891Leu) c.2612T>C c.2635T>C (p.Phe879Leu) c.2386T>C (p.Phe796Leu) n.2820T>C c.2644T>C (p.Phe882Leu) | |
4 | g.6302430T>G | CA356179596 | WFS1 | c.2671T>G (p.Phe891Val) c.2612T>G c.2635T>G (p.Phe879Val) c.2386T>G (p.Phe796Val) n.2820T>G c.2644T>G (p.Phe882Val) | |
4 | g.6302431T>A | CA356179603 | WFS1 | c.2672T>A (p.Phe891Tyr) c.2613T>A c.2636T>A (p.Phe879Tyr) c.2387T>A (p.Phe796Tyr) n.2821T>A c.2645T>A (p.Phe882Tyr) | |
4 | g.6302431T>C | CA356179609 | WFS1 | c.2672T>C (p.Phe891Ser) c.2613T>C c.2636T>C (p.Phe879Ser) c.2387T>C (p.Phe796Ser) n.2821T>C c.2645T>C (p.Phe882Ser) | |
4 | g.6302431T>G | CA356179600 | WFS1 | c.2672T>G (p.Phe891Cys) c.2613T>G c.2636T>G (p.Phe879Cys) c.2387T>G (p.Phe796Cys) n.2821T>G c.2645T>G (p.Phe882Cys) | |
4 | g.6302432C>A | CA356179612 | WFS1 | c.2673C>A (p.Phe891Leu) c.2614C>A c.2637C>A (p.Phe879Leu) c.2388C>A (p.Phe796Leu) n.2822C>A c.2646C>A (p.Phe882Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302432C= | CA1435772783 | WFS1 | c.2673C= (p.Phe891=) c.2614C= c.2637C= (p.Phe879=) c.2388C= (p.Phe796=) n.2822C= c.2646C= (p.Phe882=) | |
4 | g.6302432C>G | CA356179613 | WFS1 | c.2673C>G (p.Phe891Leu) c.2614C>G c.2637C>G (p.Phe879Leu) c.2388C>G (p.Phe796Leu) n.2822C>G c.2646C>G (p.Phe882Leu) | |
4 | g.6302432C>T | CA2839815 | WFS1 | c.2673C>T (p.Phe891=) c.2614C>T c.2637C>T (p.Phe879=) c.2388C>T (p.Phe796=) n.2822C>T c.2646C>T (p.Phe882=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302432_6302436delinsCGACT | CA1435772782 | WFS1 | c.2673_2677delinsCGACT (p.Phe891=) c.2614_2618delinsCGACT c.2637_2641delinsCGACT (p.Phe879=) c.2388_2392delinsCGACT (p.Phe796=) n.2822_2826delinsCGACT c.2646_2650delinsCGACT (p.Phe882=) | |
4 | g.6302433G>A | CA2839816 | WFS1 | c.2674G>A (p.Asp892Asn) c.2615G>A c.2638G>A (p.Asp880Asn) c.2389G>A (p.Asp797Asn) n.2823G>A c.2647G>A (p.Asp883Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302433G>C | CA2839817 | WFS1 | c.2674G>C (p.Asp892His) c.2615G>C c.2638G>C (p.Asp880His) c.2389G>C (p.Asp797His) n.2823G>C c.2647G>C (p.Asp883His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302433G= | CA1435772784 | WFS1 | c.2674G= (p.Asp892=) c.2615G= c.2638G= (p.Asp880=) c.2389G= (p.Asp797=) n.2823G= c.2647G= (p.Asp883=) | |
4 | g.6302433G>T | CA356179620 | WFS1 | c.2674G>T (p.Asp892Tyr) c.2615G>T c.2638G>T (p.Asp880Tyr) c.2389G>T (p.Asp797Tyr) n.2823G>T c.2647G>T (p.Asp883Tyr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302433_6302436del | CA1058892966 | WFS1 | c.2674_2677del (p.Asp892SerfsTer?) c.2615_2618del c.2638_2641del (p.Asp880SerfsTer?) c.2389_2392del (p.Asp797SerfsTer?) n.2823_2826del c.2647_2650del (p.Asp883SerfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302434A= | CA1435772787 | WFS1 | c.2675A= (p.Asp892=) c.2616A= c.2639A= (p.Asp880=) c.2390A= (p.Asp797=) n.2824A= c.2648A= (p.Asp883=) | |
4 | g.6302434A>C | CA356179623 | WFS1 | c.2675A>C (p.Asp892Ala) c.2616A>C c.2639A>C (p.Asp880Ala) c.2390A>C (p.Asp797Ala) n.2824A>C c.2648A>C (p.Asp883Ala) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302434A>G | CA356179631 | WFS1 | c.2675A>G (p.Asp892Gly) c.2616A>G c.2639A>G (p.Asp880Gly) c.2390A>G (p.Asp797Gly) n.2824A>G c.2648A>G (p.Asp883Gly) | |
4 | g.6302434A>T | CA356179628 | WFS1 | c.2675A>T (p.Asp892Val) c.2616A>T c.2639A>T (p.Asp880Val) c.2390A>T (p.Asp797Val) n.2824A>T c.2648A>T (p.Asp883Val) | |
4 | g.6302434_6302437delinsACTT | CA1435772786 | WFS1 | c.2675_2678delinsACTT (p.Asp892=) c.2616_2619delinsACTT c.2639_2642delinsACTT (p.Asp880=) c.2390_2393delinsACTT (p.Asp797=) n.2824_2827delinsACTT c.2648_2651delinsACTT (p.Asp883=) | |
4 | g.6302435C>A | CA356179633 | WFS1 | c.2676C>A (p.Asp892Glu) c.2617C>A c.2640C>A (p.Asp880Glu) c.2391C>A (p.Asp797Glu) n.2825C>A c.2649C>A (p.Asp883Glu) | |
4 | g.6302435C= | CA1435772791 | WFS1 | c.2676C= (p.Asp892=) c.2617C= c.2640C= (p.Asp880=) c.2391C= (p.Asp797=) n.2825C= c.2649C= (p.Asp883=) | |
4 | g.6302435C>G | CA356179635 | WFS1 | c.2676C>G (p.Asp892Glu) c.2617C>G c.2640C>G (p.Asp880Glu) c.2391C>G (p.Asp797Glu) n.2825C>G c.2649C>G (p.Asp883Glu) | gnomAD v4 |
4 | g.6302435C>T | CA2839819 | WFS1 | c.2676C>T (p.Asp892=) c.2617C>T c.2640C>T (p.Asp880=) c.2391C>T (p.Asp797=) n.2825C>T c.2649C>T (p.Asp883=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302435_6302439delinsCTTCT | CA1435772792 | WFS1 | c.2676_2680delinsCTTCT (p.Asp892=) c.2617_2621delinsCTTCT c.2640_2644delinsCTTCT (p.Asp880=) c.2391_2395delinsCTTCT (p.Asp797=) n.2825_2829delinsCTTCT c.2649_2653delinsCTTCT (p.Asp883=) | |
4 | g.6302438_6302440dup | CA1435772790 | WFS1 | c.2679_2681dup (p.Phe894_Phe895insPhe) c.2620_2622dup c.2643_2645dup (p.Phe882_Phe883insPhe) c.2394_2396dup (p.Phe799_Phe800insPhe) n.2828_2830dup c.2652_2654dup (p.Phe885_Phe886insPhe) | ClinVar dbSNP gnomAD v4 |
4 | g.6302438_6302440del | CA2839818 | WFS1 | c.2679_2681del (p.Phe894del) c.2620_2622del c.2643_2645del (p.Phe882del) c.2394_2396del (p.Phe799del) n.2828_2830del c.2652_2654del (p.Phe885del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302436T>A | CA356179642 | WFS1 | c.2677T>A (p.Phe893Ile) c.2618T>A c.2641T>A (p.Phe881Ile) c.2392T>A (p.Phe798Ile) n.2826T>A c.2650T>A (p.Phe884Ile) | |
4 | g.6302436T>C | CA356179647 | WFS1 | c.2677T>C (p.Phe893Leu) c.2618T>C c.2641T>C (p.Phe881Leu) c.2392T>C (p.Phe798Leu) n.2826T>C c.2650T>C (p.Phe884Leu) | |
4 | g.6302436T>G | CA356179645 | WFS1 | c.2677T>G (p.Phe893Val) c.2618T>G c.2641T>G (p.Phe881Val) c.2392T>G (p.Phe798Val) n.2826T>G c.2650T>G (p.Phe884Val) | |
4 | g.6302436_6302438delinsTTC | CA1435772794 | WFS1 | c.2677_2679delinsTTC (p.Phe893=) c.2618_2620delinsTTC c.2641_2643delinsTTC (p.Phe881=) c.2392_2394delinsTTC (p.Phe798=) n.2826_2828delinsTTC c.2650_2652delinsTTC (p.Phe884=) | |
4 | g.6302438_6302441del | CA549708054 | WFS1 | c.2679_2682del (p.Phe894SerfsTer?) c.2620_2623del c.2643_2646del (p.Phe882SerfsTer?) c.2394_2397del (p.Phe799SerfsTer?) n.2828_2831del c.2652_2655del (p.Phe885SerfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302437T>A | CA356179650 | WFS1 | c.2678T>A (p.Phe893Tyr) c.2619T>A c.2642T>A (p.Phe881Tyr) c.2393T>A (p.Phe798Tyr) n.2827T>A c.2651T>A (p.Phe884Tyr) | |
4 | g.6302437T>C | CA356179657 | WFS1 | c.2678T>C (p.Phe893Ser) c.2619T>C c.2642T>C (p.Phe881Ser) c.2393T>C (p.Phe798Ser) n.2827T>C c.2651T>C (p.Phe884Ser) | |
4 | g.6302437T>G | CA356179656 | WFS1 | c.2678T>G (p.Phe893Cys) c.2619T>G c.2642T>G (p.Phe881Cys) c.2393T>G (p.Phe798Cys) n.2827T>G c.2651T>G (p.Phe884Cys) | |
4 | g.6302438_6302439del | CA324155 | WFS1 | c.2679_2680del (p.Phe895LeufsTer?) c.2620_2621del c.2643_2644del (p.Phe883LeufsTer?) c.2394_2395del (p.Phe800LeufsTer?) n.2828_2829del c.2652_2653del (p.Phe886LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302438C>A | CA356179660 | WFS1 | c.2679C>A (p.Phe893Leu) c.2620C>A c.2643C>A (p.Phe881Leu) c.2394C>A (p.Phe798Leu) n.2828C>A c.2652C>A (p.Phe884Leu) | |
4 | g.6302438C>G | CA356179661 | WFS1 | c.2679C>G (p.Phe893Leu) c.2620C>G c.2643C>G (p.Phe881Leu) c.2394C>G (p.Phe798Leu) n.2828C>G c.2652C>G (p.Phe884Leu) | |
4 | g.6302438C>T | CA438211591 | WFS1 | c.2679C>T (p.Phe893=) c.2620C>T c.2643C>T (p.Phe881=) c.2394C>T (p.Phe798=) n.2828C>T c.2652C>T (p.Phe884=) | gnomAD v4 |
4 | g.6302438_6302441delinsCTTT | CA1435772797 | WFS1 | c.2679_2682delinsCTTT (p.Phe893=) c.2620_2623delinsCTTT c.2643_2646delinsCTTT (p.Phe881=) c.2394_2397delinsCTTT (p.Phe798=) n.2828_2831delinsCTTT c.2652_2655delinsCTTT (p.Phe884=) | |
4 | g.6302439T>A | CA356179662 | WFS1 | c.2680T>A (p.Phe894Ile) c.2621T>A c.2644T>A (p.Phe882Ile) c.2395T>A (p.Phe799Ile) n.2829T>A c.2653T>A (p.Phe885Ile) | |
4 | g.6302439T>C | CA356179663 | WFS1 | c.2680T>C (p.Phe894Leu) c.2621T>C c.2644T>C (p.Phe882Leu) c.2395T>C (p.Phe799Leu) n.2829T>C c.2653T>C (p.Phe885Leu) | |
4 | g.6302439T>G | CA356179664 | WFS1 | c.2680T>G (p.Phe894Val) c.2621T>G c.2644T>G (p.Phe882Val) c.2395T>G (p.Phe799Val) n.2829T>G c.2653T>G (p.Phe885Val) | |
4 | g.6302442_6302443del | CA2839820 | WFS1 | c.2683_2684del (p.Phe895LeufsTer?) c.2624_2625del c.2647_2648del (p.Phe883LeufsTer?) c.2398_2399del (p.Phe800LeufsTer?) n.2832_2833del c.2656_2657del (p.Phe886LeufsTer?) | dbSNP ExAC gnomAD v3 gnomAD v4 |
4 | g.6302441_6302443del | CA549708055 | WFS1 | c.2682_2684del (p.Phe895del) c.2623_2625del c.2646_2648del (p.Phe883del) c.2397_2399del (p.Phe800del) n.2831_2833del c.2655_2657del (p.Phe886del) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302440T>A | CA356179666 | WFS1 | c.2681T>A (p.Phe894Tyr) c.2622T>A c.2645T>A (p.Phe882Tyr) c.2396T>A (p.Phe799Tyr) n.2830T>A c.2654T>A (p.Phe885Tyr) | |
4 | g.6302440T>C | CA356179668 | WFS1 | c.2681T>C (p.Phe894Ser) c.2622T>C c.2645T>C (p.Phe882Ser) c.2396T>C (p.Phe799Ser) n.2830T>C c.2654T>C (p.Phe885Ser) | dbSNP |
4 | g.6302440T>G | CA2839821 | WFS1 | c.2681T>G (p.Phe894Cys) c.2622T>G c.2645T>G (p.Phe882Cys) c.2396T>G (p.Phe799Cys) n.2830T>G c.2654T>G (p.Phe885Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302440T= | CA1435772800 | WFS1 | c.2681T= (p.Phe894=) c.2622T= c.2645T= (p.Phe882=) c.2396T= (p.Phe799=) n.2830T= c.2654T= (p.Phe885=) | |
4 | g.6302440_6302444delinsTTTTC | CA1435772801 | WFS1 | c.2681_2685delinsTTTTC (p.Phe894=) c.2622_2626delinsTTTTC c.2645_2649delinsTTTTC (p.Phe882=) c.2396_2400delinsTTTTC (p.Phe799=) n.2830_2834delinsTTTTC c.2654_2658delinsTTTTC (p.Phe885=) | |
4 | g.6302441T>A | CA91797914 | WFS1 | c.2682T>A (p.Phe894Leu) c.2623T>A c.2646T>A (p.Phe882Leu) c.2397T>A (p.Phe799Leu) n.2831T>A c.2655T>A (p.Phe885Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302441T>C | CA438211593 | WFS1 | c.2682T>C (p.Phe894=) c.2623T>C c.2646T>C (p.Phe882=) c.2397T>C (p.Phe799=) n.2831T>C c.2655T>C (p.Phe885=) | gnomAD v4 |
4 | g.6302441T>G | CA356179678 | WFS1 | c.2682T>G (p.Phe894Leu) c.2623T>G c.2646T>G (p.Phe882Leu) c.2397T>G (p.Phe799Leu) n.2831T>G c.2655T>G (p.Phe885Leu) | dbSNP |
4 | g.6302441T= | CA1435772804 | WFS1 | c.2682T= (p.Phe894=) c.2623T= c.2646T= (p.Phe882=) c.2397T= (p.Phe799=) n.2831T= c.2655T= (p.Phe885=) | |
4 | g.6302443_6302446del | CA276185 | WFS1 | c.2684_2687del (p.Phe895SerfsTer?) c.2625_2628del c.2648_2651del (p.Phe883SerfsTer?) c.2399_2402del (p.Phe800SerfsTer?) n.2833_2836del c.2657_2660del (p.Phe886SerfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302442T>A | CA356179690 | WFS1 | c.2683T>A (p.Phe895Ile) c.2624T>A c.2647T>A (p.Phe883Ile) c.2398T>A (p.Phe800Ile) n.2832T>A c.2656T>A (p.Phe886Ile) | |
4 | g.6302442T>C | CA356179688 | WFS1 | c.2683T>C (p.Phe895Leu) c.2624T>C c.2647T>C (p.Phe883Leu) c.2398T>C (p.Phe800Leu) n.2832T>C c.2656T>C (p.Phe886Leu) | |
4 | g.6302442T>G | CA356179686 | WFS1 | c.2683T>G (p.Phe895Val) c.2624T>G c.2647T>G (p.Phe883Val) c.2398T>G (p.Phe800Val) n.2832T>G c.2656T>G (p.Phe886Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302442T= | CA1435772805 | WFS1 | c.2683T= (p.Phe895=) c.2624T= c.2647T= (p.Phe883=) c.2398T= (p.Phe800=) n.2832T= c.2656T= (p.Phe886=) | |
4 | g.6302443T>A | CA356179692 | WFS1 | c.2684T>A (p.Phe895Tyr) c.2625T>A c.2648T>A (p.Phe883Tyr) c.2399T>A (p.Phe800Tyr) n.2833T>A c.2657T>A (p.Phe886Tyr) | |
4 | g.6302443T>C | CA356179695 | WFS1 | c.2684T>C (p.Phe895Ser) c.2625T>C c.2648T>C (p.Phe883Ser) c.2399T>C (p.Phe800Ser) n.2833T>C c.2657T>C (p.Phe886Ser) | |
4 | g.6302443T>G | CA356179697 | WFS1 | c.2684T>G (p.Phe895Cys) c.2625T>G c.2648T>G (p.Phe883Cys) c.2399T>G (p.Phe800Cys) n.2833T>G c.2657T>G (p.Phe886Cys) | |
4 | g.6302443_6302444delinsTC | CA1435772807 | WFS1 | c.2684_2685delinsTC (p.Phe895=) c.2625_2626delinsTC c.2648_2649delinsTC (p.Phe883=) c.2399_2400delinsTC (p.Phe800=) n.2833_2834delinsTC c.2657_2658delinsTC (p.Phe886=) | |
4 | g.6302444del | CA91797917 | WFS1 | c.2685del (p.Phe896SerfsTer?) c.2626del c.2649del (p.Phe884SerfsTer?) c.2400del (p.Phe801SerfsTer?) n.2834del c.2658del (p.Phe887SerfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302444C>A | CA356179700 | WFS1 | c.2685C>A (p.Phe895Leu) c.2626C>A c.2649C>A (p.Phe883Leu) c.2400C>A (p.Phe800Leu) n.2834C>A c.2658C>A (p.Phe886Leu) | |
4 | g.6302444C>G | CA356179702 | WFS1 | c.2685C>G (p.Phe895Leu) c.2626C>G c.2649C>G (p.Phe883Leu) c.2400C>G (p.Phe800Leu) n.2834C>G c.2658C>G (p.Phe886Leu) | ClinVar |
4 | g.6302444C>T | CA438211599 | WFS1 | c.2685C>T (p.Phe895=) c.2626C>T c.2649C>T (p.Phe883=) c.2400C>T (p.Phe800=) n.2834C>T c.2658C>T (p.Phe886=) | |
4 | g.6302445T>A | CA356179705 | WFS1 | c.2686T>A (p.Phe896Ile) c.2627T>A c.2650T>A (p.Phe884Ile) c.2401T>A (p.Phe801Ile) n.2835T>A c.2659T>A (p.Phe887Ile) | |
4 | g.6302445T>C | CA356179708 | WFS1 | c.2686T>C (p.Phe896Leu) c.2627T>C c.2650T>C (p.Phe884Leu) c.2401T>C (p.Phe801Leu) n.2835T>C c.2659T>C (p.Phe887Leu) | |
4 | g.6302445T>G | CA2839822 | WFS1 | c.2686T>G (p.Phe896Val) c.2627T>G c.2650T>G (p.Phe884Val) c.2401T>G (p.Phe801Val) n.2835T>G c.2659T>G (p.Phe887Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302445T= | CA1435772809 | WFS1 | c.2686T= (p.Phe896=) c.2627T= c.2650T= (p.Phe884=) c.2401T= (p.Phe801=) n.2835T= c.2659T= (p.Phe887=) | |
4 | g.6302446T>A | CA320140 | WFS1 | c.2687T>A (p.Phe896Tyr) c.2628T>A c.2651T>A (p.Phe884Tyr) c.2402T>A (p.Phe801Tyr) n.2836T>A c.2660T>A (p.Phe887Tyr) | ClinVar dbSNP gnomAD v2 |
4 | g.6302446T>C | CA356179723 | WFS1 | c.2687T>C (p.Phe896Ser) c.2628T>C c.2651T>C (p.Phe884Ser) c.2402T>C (p.Phe801Ser) n.2836T>C c.2660T>C (p.Phe887Ser) | gnomAD v4 |
4 | g.6302446T>G | CA356179713 | WFS1 | c.2687T>G (p.Phe896Cys) c.2628T>G c.2651T>G (p.Phe884Cys) c.2402T>G (p.Phe801Cys) n.2836T>G c.2660T>G (p.Phe887Cys) | |
4 | g.6302446T= | CA1435772812 | WFS1 | c.2687T= (p.Phe896=) c.2628T= c.2651T= (p.Phe884=) c.2402T= (p.Phe801=) n.2836T= c.2660T= (p.Phe887=) | |
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 |