Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) |