UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |