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.6302188_6302218del | CA913107300 | WFS1 | c.2429_2459del (p.Val810AlafsTer?) c.2370_2400del c.2393_2423del (p.Val798AlafsTer?) c.2144_2174del (p.Val715AlafsTer?) n.2578_2608del c.2402_2432del (p.Val801AlafsTer?) | |
| 4 | g.6302203T>A | CA356178524 | WFS1 | c.2444T>A (p.Val815Glu) c.2385T>A c.2408T>A (p.Val803Glu) c.2159T>A (p.Val720Glu) n.2593T>A c.2417T>A (p.Val806Glu) | |
| 4 | g.6302203T>C | CA356178525 | WFS1 | c.2444T>C (p.Val815Ala) c.2385T>C c.2408T>C (p.Val803Ala) c.2159T>C (p.Val720Ala) n.2593T>C c.2417T>C (p.Val806Ala) | |
| 4 | g.6302203T>G | CA356178526 | WFS1 | c.2444T>G (p.Val815Gly) c.2385T>G c.2408T>G (p.Val803Gly) c.2159T>G (p.Val720Gly) n.2593T>G c.2417T>G (p.Val806Gly) | gnomAD v4 |
| 4 | g.6302204G>A | CA438368292 | WFS1 | c.2445G>A (p.Val815=) c.2386G>A c.2409G>A (p.Val803=) c.2160G>A (p.Val720=) n.2594G>A c.2418G>A (p.Val806=) | gnomAD v4 |
| 4 | g.6302204G>C | CA438368293 | WFS1 | c.2445G>C (p.Val815=) c.2386G>C c.2409G>C (p.Val803=) c.2160G>C (p.Val720=) n.2594G>C c.2418G>C (p.Val806=) | |
| 4 | g.6302204G>T | CA438368294 | WFS1 | c.2445G>T (p.Val815=) c.2386G>T c.2409G>T (p.Val803=) c.2160G>T (p.Val720=) n.2594G>T c.2418G>T (p.Val806=) | COSMIC |
| 4 | g.6302205C>A | CA356178527 | WFS1 | c.2446C>A (p.Leu816Met) c.2387C>A c.2410C>A (p.Leu804Met) c.2161C>A (p.Leu721Met) n.2595C>A c.2419C>A (p.Leu807Met) | |
| 4 | g.6302205C= | CA1435772473 | WFS1 | c.2446C= (p.Leu816=) c.2387C= c.2410C= (p.Leu804=) c.2161C= (p.Leu721=) n.2595C= c.2419C= (p.Leu807=) | |
| 4 | g.6302205C>G | CA356178528 | WFS1 | c.2446C>G (p.Leu816Val) c.2387C>G c.2410C>G (p.Leu804Val) c.2161C>G (p.Leu721Val) n.2595C>G c.2419C>G (p.Leu807Val) | |
| 4 | g.6302205C>T | CA2839727 | WFS1 | c.2446C>T (p.Leu816=) c.2387C>T c.2410C>T (p.Leu804=) c.2161C>T (p.Leu721=) n.2595C>T c.2419C>T (p.Leu807=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6302206T>A | CA356178529 | WFS1 | c.2447T>A (p.Leu816Gln) c.2388T>A c.2411T>A (p.Leu804Gln) c.2162T>A (p.Leu721Gln) n.2596T>A c.2420T>A (p.Leu807Gln) | |
| 4 | g.6302206T>C | CA356178530 | WFS1 | c.2447T>C (p.Leu816Pro) c.2388T>C c.2411T>C (p.Leu804Pro) c.2162T>C (p.Leu721Pro) n.2596T>C c.2420T>C (p.Leu807Pro) | ClinVar dbSNP |
| 4 | g.6302206T>G | CA356178531 | WFS1 | c.2447T>G (p.Leu816Arg) c.2388T>G c.2411T>G (p.Leu804Arg) c.2162T>G (p.Leu721Arg) n.2596T>G c.2420T>G (p.Leu807Arg) | gnomAD v4 |
| 4 | g.6302206T= | CA1435772474 | WFS1 | c.2447T= (p.Leu816=) c.2388T= c.2411T= (p.Leu804=) c.2162T= (p.Leu721=) n.2596T= c.2420T= (p.Leu807=) | |
| 4 | g.6302207G>A | CA438368296 | WFS1 | c.2448G>A (p.Leu816=) c.2389G>A c.2412G>A (p.Leu804=) c.2163G>A (p.Leu721=) n.2597G>A c.2421G>A (p.Leu807=) | gnomAD v4 |
| 4 | g.6302207G>C | CA438368297 | WFS1 | c.2448G>C (p.Leu816=) c.2389G>C c.2412G>C (p.Leu804=) c.2163G>C (p.Leu721=) n.2597G>C c.2421G>C (p.Leu807=) | |
| 4 | g.6302207G>T | CA438368295 | WFS1 | c.2448G>T (p.Leu816=) c.2389G>T c.2412G>T (p.Leu804=) c.2163G>T (p.Leu721=) n.2597G>T c.2421G>T (p.Leu807=) | |
| 4 | g.6302208C>A | CA438368298 | WFS1 | c.2449C>A (p.Arg817=) c.2390C>A c.2413C>A (p.Arg805=) c.2164C>A (p.Arg722=) n.2598C>A c.2422C>A (p.Arg808=) | gnomAD v4 |
| 4 | g.6302208C= | CA1435772476 | WFS1 | c.2449C= (p.Arg817=) c.2390C= c.2413C= (p.Arg805=) c.2164C= (p.Arg722=) n.2598C= c.2422C= (p.Arg808=) | |
| 4 | g.6302208C>G | CA356178532 | WFS1 | c.2449C>G (p.Arg817Gly) c.2390C>G c.2413C>G (p.Arg805Gly) c.2164C>G (p.Arg722Gly) n.2598C>G c.2422C>G (p.Arg808Gly) | |
| 4 | g.6302208C>T | CA2839728 | WFS1 | c.2449C>T (p.Arg817Trp) c.2390C>T c.2413C>T (p.Arg805Trp) c.2164C>T (p.Arg722Trp) n.2598C>T c.2422C>T (p.Arg808Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.6302209G>A | CA179681 | WFS1 | c.2450G>A (p.Arg817Gln) c.2391G>A c.2414G>A (p.Arg805Gln) c.2165G>A (p.Arg722Gln) n.2599G>A c.2423G>A (p.Arg808Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302209G>C | CA356178533 | WFS1 | c.2450G>C (p.Arg817Pro) c.2391G>C c.2414G>C (p.Arg805Pro) c.2165G>C (p.Arg722Pro) n.2599G>C c.2423G>C (p.Arg808Pro) | gnomAD v4 |
| 4 | g.6302209G= | CA1435772477 | WFS1 | c.2450G= (p.Arg817=) c.2391G= c.2414G= (p.Arg805=) c.2165G= (p.Arg722=) n.2599G= c.2423G= (p.Arg808=) | |
| 4 | g.6302209G>T | CA356178534 | WFS1 | c.2450G>T (p.Arg817Leu) c.2391G>T c.2414G>T (p.Arg805Leu) c.2165G>T (p.Arg722Leu) n.2599G>T c.2423G>T (p.Arg808Leu) | gnomAD v4 |
| 4 | g.6302210G>A | CA438368299 | WFS1 | c.2451G>A (p.Arg817=) c.2392G>A c.2415G>A (p.Arg805=) c.2166G>A (p.Arg722=) n.2600G>A c.2424G>A (p.Arg808=) | |
| 4 | g.6302210G>C | CA438368300 | WFS1 | c.2451G>C (p.Arg817=) c.2392G>C c.2415G>C (p.Arg805=) c.2166G>C (p.Arg722=) n.2600G>C c.2424G>C (p.Arg808=) | gnomAD v4 |
| 4 | g.6302210G= | CA1435772479 | WFS1 | c.2451G= (p.Arg817=) c.2392G= c.2415G= (p.Arg805=) c.2166G= (p.Arg722=) n.2600G= c.2424G= (p.Arg808=) | |
| 4 | g.6302210G>T | CA2839729 | WFS1 | c.2451G>T (p.Arg817=) c.2392G>T c.2415G>T (p.Arg805=) c.2166G>T (p.Arg722=) n.2600G>T c.2424G>T (p.Arg808=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6302211G>A | CA356178535 | WFS1 | c.2452G>A (p.Ala818Thr) c.2393G>A c.2416G>A (p.Ala806Thr) c.2167G>A (p.Ala723Thr) n.2601G>A c.2425G>A (p.Ala809Thr) | dbSNP gnomAD v4 |
| 4 | g.6302211G>C | CA2839730 | WFS1 | c.2452G>C (p.Ala818Pro) c.2393G>C c.2416G>C (p.Ala806Pro) c.2167G>C (p.Ala723Pro) n.2601G>C c.2425G>C (p.Ala809Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.6302211G= | CA1435772481 | WFS1 | c.2452G= (p.Ala818=) c.2393G= c.2416G= (p.Ala806=) c.2167G= (p.Ala723=) n.2601G= c.2425G= (p.Ala809=) | |
| 4 | g.6302211G>T | CA356178536 | WFS1 | c.2452G>T (p.Ala818Ser) c.2393G>T c.2416G>T (p.Ala806Ser) c.2167G>T (p.Ala723Ser) n.2601G>T c.2425G>T (p.Ala809Ser) | |
| 4 | g.6302212C>A | CA356178539 | WFS1 | c.2453C>A (p.Ala818Asp) c.2394C>A c.2417C>A (p.Ala806Asp) c.2168C>A (p.Ala723Asp) n.2602C>A c.2426C>A (p.Ala809Asp) | gnomAD v4 |
| 4 | g.6302212C= | CA1435772482 | WFS1 | c.2453C= (p.Ala818=) c.2394C= c.2417C= (p.Ala806=) c.2168C= (p.Ala723=) n.2602C= c.2426C= (p.Ala809=) | |
| 4 | g.6302212C>G | CA356178538 | WFS1 | c.2453C>G (p.Ala818Gly) c.2394C>G c.2417C>G (p.Ala806Gly) c.2168C>G (p.Ala723Gly) n.2602C>G c.2426C>G (p.Ala809Gly) | |
| 4 | g.6302212C>T | CA356178537 | WFS1 | c.2453C>T (p.Ala818Val) c.2394C>T c.2417C>T (p.Ala806Val) c.2168C>T (p.Ala723Val) n.2602C>T c.2426C>T (p.Ala809Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6302213C>A | CA438368301 | WFS1 | c.2454C>A (p.Ala818=) c.2395C>A c.2418C>A (p.Ala806=) c.2169C>A (p.Ala723=) n.2603C>A c.2427C>A (p.Ala809=) | |
| 4 | g.6302213C>G | CA438368302 | WFS1 | c.2454C>G (p.Ala818=) c.2395C>G c.2418C>G (p.Ala806=) c.2169C>G (p.Ala723=) n.2603C>G c.2427C>G (p.Ala809=) | |
| 4 | g.6302213C>T | CA438368303 | WFS1 | c.2454C>T (p.Ala818=) c.2395C>T c.2418C>T (p.Ala806=) c.2169C>T (p.Ala723=) n.2603C>T c.2427C>T (p.Ala809=) | gnomAD v4 |
| 4 | g.6302214A>C | CA356178540 | WFS1 | c.2455A>C (p.Ser819Arg) c.2396A>C c.2419A>C (p.Ser807Arg) c.2170A>C (p.Ser724Arg) n.2604A>C c.2428A>C (p.Ser810Arg) | |
| 4 | g.6302214A>G | CA356178541 | WFS1 | c.2455A>G (p.Ser819Gly) c.2396A>G c.2419A>G (p.Ser807Gly) c.2170A>G (p.Ser724Gly) n.2604A>G c.2428A>G (p.Ser810Gly) | gnomAD v4 |
| 4 | g.6302214A>T | CA356178542 | WFS1 | c.2455A>T (p.Ser819Cys) c.2396A>T c.2419A>T (p.Ser807Cys) c.2170A>T (p.Ser724Cys) n.2604A>T c.2428A>T (p.Ser810Cys) | |
| 4 | g.6302215G>A | CA356178543 | WFS1 | c.2456G>A (p.Ser819Asn) c.2397G>A c.2420G>A (p.Ser807Asn) c.2171G>A (p.Ser724Asn) n.2605G>A c.2429G>A (p.Ser810Asn) | |
| 4 | g.6302215G>C | CA2839732 | WFS1 | c.2456G>C (p.Ser819Thr) c.2397G>C c.2420G>C (p.Ser807Thr) c.2171G>C (p.Ser724Thr) n.2605G>C c.2429G>C (p.Ser810Thr) | dbSNP ExAC gnomAD v2 |
| 4 | g.6302215G= | CA1435772484 | WFS1 | c.2456G= (p.Ser819=) c.2397G= c.2420G= (p.Ser807=) c.2171G= (p.Ser724=) n.2605G= c.2429G= (p.Ser810=) | |
| 4 | g.6302215G>T | CA2839731 | WFS1 | c.2456G>T (p.Ser819Ile) c.2397G>T c.2420G>T (p.Ser807Ile) c.2171G>T (p.Ser724Ile) n.2605G>T c.2429G>T (p.Ser810Ile) | dbSNP ExAC gnomAD v4 |
| 4 | g.6302216C>A | CA356178544 | WFS1 | c.2457C>A (p.Ser819Arg) c.2398C>A c.2421C>A (p.Ser807Arg) c.2172C>A (p.Ser724Arg) n.2606C>A c.2430C>A (p.Ser810Arg) | |
| 4 | g.6302216C= | CA1435772485 | WFS1 | c.2457C= (p.Ser819=) c.2398C= c.2421C= (p.Ser807=) c.2172C= (p.Ser724=) n.2606C= c.2430C= (p.Ser810=) |