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.6302303G>A | CA438368348 | WFS1 | c.2544G>A (p.Lys848=) c.2485G>A c.2508G>A (p.Lys836=) c.2259G>A (p.Lys753=) n.2693G>A c.2517G>A (p.Lys839=) | |
| 4 | g.6302303G>C | CA10576641 | WFS1 | c.2544G>C (p.Lys848Asn) c.2485G>C c.2508G>C (p.Lys836Asn) c.2259G>C (p.Lys753Asn) n.2693G>C c.2517G>C (p.Lys839Asn) | ClinVar dbSNP |
| 4 | g.6302303G= | CA1435772591 | WFS1 | c.2544G= (p.Lys848=) c.2485G= c.2508G= (p.Lys836=) c.2259G= (p.Lys753=) n.2693G= c.2517G= (p.Lys839=) | |
| 4 | g.6302303G>T | CA356178774 | WFS1 | c.2544G>T (p.Lys848Asn) c.2485G>T c.2508G>T (p.Lys836Asn) c.2259G>T (p.Lys753Asn) n.2693G>T c.2517G>T (p.Lys839Asn) | |
| 4 | g.6302304T>A | CA356178776 | WFS1 | c.2545T>A (p.Trp849Arg) c.2486T>A c.2509T>A (p.Trp837Arg) c.2260T>A (p.Trp754Arg) n.2694T>A c.2518T>A (p.Trp840Arg) | |
| 4 | g.6302304T>C | CA356178777 | WFS1 | c.2545T>C (p.Trp849Arg) c.2486T>C c.2509T>C (p.Trp837Arg) c.2260T>C (p.Trp754Arg) n.2694T>C c.2518T>C (p.Trp840Arg) | gnomAD v4 |
| 4 | g.6302304T>G | CA356178778 | WFS1 | c.2545T>G (p.Trp849Gly) c.2486T>G c.2509T>G (p.Trp837Gly) c.2260T>G (p.Trp754Gly) n.2694T>G c.2518T>G (p.Trp840Gly) | dbSNP gnomAD v4 |
| 4 | g.6302304T= | CA1435772592 | WFS1 | c.2545T= (p.Trp849=) c.2486T= c.2509T= (p.Trp837=) c.2260T= (p.Trp754=) n.2694T= c.2518T= (p.Trp840=) | |
| 4 | g.6302305G>A | CA356178782 | WFS1 | c.2546G>A (p.Trp849Ter) c.2487G>A c.2510G>A (p.Trp837Ter) c.2261G>A (p.Trp754Ter) n.2695G>A c.2519G>A (p.Trp840Ter) | gnomAD v4 |
| 4 | g.6302305G>C | CA356178781 | WFS1 | c.2546G>C (p.Trp849Ser) c.2487G>C c.2510G>C (p.Trp837Ser) c.2261G>C (p.Trp754Ser) n.2695G>C c.2519G>C (p.Trp840Ser) | |
| 4 | g.6302305G>T | CA356178779 | WFS1 | c.2546G>T (p.Trp849Leu) c.2487G>T c.2510G>T (p.Trp837Leu) c.2261G>T (p.Trp754Leu) n.2695G>T c.2519G>T (p.Trp840Leu) | |
| 4 | g.6302306G>A | CA356178783 | WFS1 | c.2547G>A (p.Trp849Ter) c.2488G>A c.2511G>A (p.Trp837Ter) c.2262G>A (p.Trp754Ter) n.2696G>A c.2520G>A (p.Trp840Ter) | |
| 4 | g.6302306G>C | CA356178784 | WFS1 | c.2547G>C (p.Trp849Cys) c.2488G>C c.2511G>C (p.Trp837Cys) c.2262G>C (p.Trp754Cys) n.2696G>C c.2520G>C (p.Trp840Cys) | |
| 4 | g.6302306G= | CA1435772593 | WFS1 | c.2547G= (p.Trp849=) c.2488G= c.2511G= (p.Trp837=) c.2262G= (p.Trp754=) n.2696G= c.2520G= (p.Trp840=) | |
| 4 | g.6302306G>T | CA356178785 | WFS1 | c.2547G>T (p.Trp849Cys) c.2488G>T c.2511G>T (p.Trp837Cys) c.2262G>T (p.Trp754Cys) n.2696G>T c.2520G>T (p.Trp840Cys) | ClinVar dbSNP gnomAD v2 |
| 4 | g.6302307C>A | CA356178787 | WFS1 | c.2548C>A (p.Pro850Thr) c.2489C>A c.2512C>A (p.Pro838Thr) c.2263C>A (p.Pro755Thr) n.2697C>A c.2521C>A (p.Pro841Thr) | |
| 4 | g.6302307C>G | CA356178789 | WFS1 | c.2548C>G (p.Pro850Ala) c.2489C>G c.2512C>G (p.Pro838Ala) c.2263C>G (p.Pro755Ala) n.2697C>G c.2521C>G (p.Pro841Ala) | ClinVar dbSNP |
| 4 | g.6302307C>T | CA356178790 | WFS1 | c.2548C>T (p.Pro850Ser) c.2489C>T c.2512C>T (p.Pro838Ser) c.2263C>T (p.Pro755Ser) n.2697C>T c.2521C>T (p.Pro841Ser) | |
| 4 | g.6302308C>A | CA356178792 | WFS1 | c.2549C>A (p.Pro850His) c.2490C>A c.2513C>A (p.Pro838His) c.2264C>A (p.Pro755His) n.2698C>A c.2522C>A (p.Pro841His) | |
| 4 | g.6302308C= | CA1435772594 | WFS1 | c.2549C= (p.Pro850=) c.2490C= c.2513C= (p.Pro838=) c.2264C= (p.Pro755=) n.2698C= c.2522C= (p.Pro841=) | |
| 4 | g.6302308C>G | CA356178795 | WFS1 | c.2549C>G (p.Pro850Arg) c.2490C>G c.2513C>G (p.Pro838Arg) c.2264C>G (p.Pro755Arg) n.2698C>G c.2522C>G (p.Pro841Arg) | |
| 4 | g.6302308C>T | CA91797255 | WFS1 | c.2549C>T (p.Pro850Leu) c.2490C>T c.2513C>T (p.Pro838Leu) c.2264C>T (p.Pro755Leu) n.2698C>T c.2522C>T (p.Pro841Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302309T>A | CA438368349 | WFS1 | c.2550T>A (p.Pro850=) c.2491T>A c.2514T>A (p.Pro838=) c.2265T>A (p.Pro755=) n.2699T>A c.2523T>A (p.Pro841=) | |
| 4 | g.6302309T>C | CA2839758 | WFS1 | c.2550T>C (p.Pro850=) c.2491T>C c.2514T>C (p.Pro838=) c.2265T>C (p.Pro755=) n.2699T>C c.2523T>C (p.Pro841=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302309T>G | CA438368350 | WFS1 | c.2550T>G (p.Pro850=) c.2491T>G c.2514T>G (p.Pro838=) c.2265T>G (p.Pro755=) n.2699T>G c.2523T>G (p.Pro841=) | |
| 4 | g.6302309T= | CA1435772596 | WFS1 | c.2550T= (p.Pro850=) c.2491T= c.2514T= (p.Pro838=) c.2265T= (p.Pro755=) n.2699T= c.2523T= (p.Pro841=) | |
| 4 | g.6302310G>A | CA356178797 | WFS1 | c.2551G>A (p.Val851Ile) c.2492G>A c.2515G>A (p.Val839Ile) c.2266G>A (p.Val756Ile) n.2700G>A c.2524G>A (p.Val842Ile) | |
| 4 | g.6302310G>C | CA356178799 | WFS1 | c.2551G>C (p.Val851Leu) c.2492G>C c.2515G>C (p.Val839Leu) c.2266G>C (p.Val756Leu) n.2700G>C c.2524G>C (p.Val842Leu) | gnomAD v4 |
| 4 | g.6302310G>T | CA356178801 | WFS1 | c.2551G>T (p.Val851Phe) c.2492G>T c.2515G>T (p.Val839Phe) c.2266G>T (p.Val756Phe) n.2700G>T c.2524G>T (p.Val842Phe) | gnomAD v4 |
| 4 | g.6302311T>A | CA356178803 | WFS1 | c.2552T>A (p.Val851Asp) c.2493T>A c.2516T>A (p.Val839Asp) c.2267T>A (p.Val756Asp) n.2701T>A c.2525T>A (p.Val842Asp) | dbSNP |
| 4 | g.6302311T>C | CA2839760 | WFS1 | c.2552T>C (p.Val851Ala) c.2493T>C c.2516T>C (p.Val839Ala) c.2267T>C (p.Val756Ala) n.2701T>C c.2525T>C (p.Val842Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6302311T>G | CA2839759 | WFS1 | c.2552T>G (p.Val851Gly) c.2493T>G c.2516T>G (p.Val839Gly) c.2267T>G (p.Val756Gly) n.2701T>G c.2525T>G (p.Val842Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6302311T= | CA1435772597 | WFS1 | c.2552T= (p.Val851=) c.2493T= c.2516T= (p.Val839=) c.2267T= (p.Val756=) n.2701T= c.2525T= (p.Val842=) | |
| 4 | g.6302312C>A | CA438368351 | WFS1 | c.2553C>A (p.Val851=) c.2494C>A c.2517C>A (p.Val839=) c.2268C>A (p.Val756=) n.2702C>A c.2526C>A (p.Val842=) | gnomAD v4 |
| 4 | g.6302312C= | CA1435772599 | WFS1 | c.2553C= (p.Val851=) c.2494C= c.2517C= (p.Val839=) c.2268C= (p.Val756=) n.2702C= c.2526C= (p.Val842=) | |
| 4 | g.6302312C>G | CA91797264 | WFS1 | c.2553C>G (p.Val851=) c.2494C>G c.2517C>G (p.Val839=) c.2268C>G (p.Val756=) n.2702C>G c.2526C>G (p.Val842=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302312C>T | CA438368352 | WFS1 | c.2553C>T (p.Val851=) c.2494C>T c.2517C>T (p.Val839=) c.2268C>T (p.Val756=) n.2702C>T c.2526C>T (p.Val842=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302313T>A | CA356178809 | WFS1 | c.2554T>A (p.Phe852Ile) c.2495T>A c.2518T>A (p.Phe840Ile) c.2269T>A (p.Phe757Ile) n.2703T>A c.2527T>A (p.Phe843Ile) | |
| 4 | g.6302313T>C | CA356178811 | WFS1 | c.2554T>C (p.Phe852Leu) c.2495T>C c.2518T>C (p.Phe840Leu) c.2269T>C (p.Phe757Leu) n.2703T>C c.2527T>C (p.Phe843Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6302313T>G | CA356178812 | WFS1 | c.2554T>G (p.Phe852Val) c.2495T>G c.2518T>G (p.Phe840Val) c.2269T>G (p.Phe757Val) n.2703T>G c.2527T>G (p.Phe843Val) | |
| 4 | g.6302313T= | CA1435772600 | WFS1 | c.2554T= (p.Phe852=) c.2495T= c.2518T= (p.Phe840=) c.2269T= (p.Phe757=) n.2703T= c.2527T= (p.Phe843=) | |
| 4 | g.6302314T>A | CA356178815 | WFS1 | c.2555T>A (p.Phe852Tyr) c.2496T>A c.2519T>A (p.Phe840Tyr) c.2270T>A (p.Phe757Tyr) n.2704T>A c.2528T>A (p.Phe843Tyr) | |
| 4 | g.6302314T>C | CA356178818 | WFS1 | c.2555T>C (p.Phe852Ser) c.2496T>C c.2519T>C (p.Phe840Ser) c.2270T>C (p.Phe757Ser) n.2704T>C c.2528T>C (p.Phe843Ser) | |
| 4 | g.6302314T>G | CA356178817 | WFS1 | c.2555T>G (p.Phe852Cys) c.2496T>G c.2519T>G (p.Phe840Cys) c.2270T>G (p.Phe757Cys) n.2704T>G c.2528T>G (p.Phe843Cys) | |
| 4 | g.6302315C>A | CA356178821 | WFS1 | c.2556C>A (p.Phe852Leu) c.2497C>A c.2520C>A (p.Phe840Leu) c.2271C>A (p.Phe757Leu) n.2705C>A c.2529C>A (p.Phe843Leu) | |
| 4 | g.6302315C= | CA1435772602 | WFS1 | c.2556C= (p.Phe852=) c.2497C= c.2520C= (p.Phe840=) c.2271C= (p.Phe757=) n.2705C= c.2529C= (p.Phe843=) | |
| 4 | g.6302315C>G | CA356178822 | WFS1 | c.2556C>G (p.Phe852Leu) c.2497C>G c.2520C>G (p.Phe840Leu) c.2271C>G (p.Phe757Leu) n.2705C>G c.2529C>G (p.Phe843Leu) | |
| 4 | g.6302315C>T | CA2839761 | WFS1 | c.2556C>T (p.Phe852=) c.2497C>T c.2520C>T (p.Phe840=) c.2271C>T (p.Phe757=) n.2705C>T c.2529C>T (p.Phe843=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6302316G>A | CA356178825 | WFS1 | c.2557G>A (p.Glu853Lys) c.2498G>A c.2521G>A (p.Glu841Lys) c.2272G>A (p.Glu758Lys) n.2706G>A c.2530G>A (p.Glu844Lys) | |
| 4 | g.6302316G>C | CA356178826 | WFS1 | c.2557G>C (p.Glu853Gln) c.2498G>C c.2521G>C (p.Glu841Gln) c.2272G>C (p.Glu758Gln) n.2706G>C c.2530G>C (p.Glu844Gln) | ClinVar dbSNP |