WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6302066_6302112dup | CA2669843454 | WFS1 | c.2307_2353dup (p.Tyr785LeufsTer?) c.2248_2294dup c.2271_2317dup (p.Tyr773LeufsTer?) c.2022_2068dup (p.Tyr690LeufsTer?) c.1930_1976dup (n.1930_1976dup) n.2456_2502dup c.2280_2326dup (p.Tyr776LeufsTer?) | gnomAD v4 |
| 4 | g.6302091C>A | CA356178307 | WFS1 | c.2332C>A (p.His778Asn) c.2273C>A c.2296C>A (p.His766Asn) c.2047C>A (p.His683Asn) c.1955C>A (n.1955C>A) n.2481C>A c.2305C>A (p.His769Asn) | |
| 4 | g.6302091C= | CA1435772320 | WFS1 | c.2332C= (p.His778=) c.2273C= c.2296C= (p.His766=) c.2047C= (p.His683=) c.1955C= (n.1955C=) n.2481C= c.2305C= (p.His769=) | |
| 4 | g.6302091C>G | CA356178306 | WFS1 | c.2332C>G (p.His778Asp) c.2273C>G c.2296C>G (p.His766Asp) c.2047C>G (p.His683Asp) c.1955C>G (n.1955C>G) n.2481C>G c.2305C>G (p.His769Asp) | ClinVar dbSNP |
| 4 | g.6302091C>T | CA356178305 | WFS1 | c.2332C>T (p.His778Tyr) c.2273C>T c.2296C>T (p.His766Tyr) c.2047C>T (p.His683Tyr) c.1955C>T (n.1955C>T) n.2481C>T c.2305C>T (p.His769Tyr) | ClinVar dbSNP gnomAD v4 |
| 4 | g.6302092A>C | CA356178308 | WFS1 | c.2333A>C (p.His778Pro) c.2274A>C c.2297A>C (p.His766Pro) c.2048A>C (p.His683Pro) c.1956A>C (n.1956A>C) n.2482A>C c.2306A>C (p.His769Pro) | |
| 4 | g.6302092A>G | CA356178309 | WFS1 | c.2333A>G (p.His778Arg) c.2274A>G c.2297A>G (p.His766Arg) c.2048A>G (p.His683Arg) c.1956A>G (n.1956A>G) n.2482A>G c.2306A>G (p.His769Arg) | gnomAD v4 |
| 4 | g.6302092A>T | CA356178310 | WFS1 | c.2333A>T (p.His778Leu) c.2274A>T c.2297A>T (p.His766Leu) c.2048A>T (p.His683Leu) c.1956A>T (n.1956A>T) n.2482A>T c.2306A>T (p.His769Leu) | |
| 4 | g.6302093C>A | CA10619009 | WFS1 | c.2334C>A (p.His778Gln) c.2275C>A c.2298C>A (p.His766Gln) c.2049C>A (p.His683Gln) c.1957C>A (n.1957C>A) n.2483C>A c.2307C>A (p.His769Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6302093C= | CA1435772322 | WFS1 | c.2334C= (p.His778=) c.2275C= c.2298C= (p.His766=) c.2049C= (p.His683=) c.1957C= (n.1957C=) n.2483C= c.2307C= (p.His769=) | |
| 4 | g.6302093C>G | CA356178311 | WFS1 | c.2334C>G (p.His778Gln) c.2275C>G c.2298C>G (p.His766Gln) c.2049C>G (p.His683Gln) c.1957C>G (n.1957C>G) n.2483C>G c.2307C>G (p.His769Gln) | |
| 4 | g.6302093C>T | CA2839678 | WFS1 | c.2334C>T (p.His778=) c.2275C>T c.2298C>T (p.His766=) c.2049C>T (p.His683=) c.1957C>T (n.1957C>T) n.2483C>T c.2307C>T (p.His769=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302095_6302097del | CA2580617579 | WFS1 | c.2336_2338del (p.Ile779del) c.2277_2279del c.2300_2302del (p.Ile767del) c.2051_2053del (p.Ile684del) c.1959_1961del (n.1959_1961del) n.2485_2487del c.2309_2311del (p.Ile770del) | |
| 4 | g.6302094A= | CA1435772325 | WFS1 | c.2335A= (p.Ile779=) c.2276A= c.2299A= (p.Ile767=) c.2050A= (p.Ile684=) c.1958A= (n.1958A=) n.2484A= c.2308A= (p.Ile770=) | |
| 4 | g.6302094A>C | CA2839679 | WFS1 | c.2335A>C (p.Ile779Leu) c.2276A>C c.2299A>C (p.Ile767Leu) c.2050A>C (p.Ile684Leu) c.1958A>C (n.1958A>C) n.2484A>C c.2308A>C (p.Ile770Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302094A>G | CA356178312 | WFS1 | c.2335A>G (p.Ile779Val) c.2276A>G c.2299A>G (p.Ile767Val) c.2050A>G (p.Ile684Val) c.1958A>G (n.1958A>G) n.2484A>G c.2308A>G (p.Ile770Val) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6302094A>T | CA356178313 | WFS1 | c.2335A>T (p.Ile779Phe) c.2276A>T c.2299A>T (p.Ile767Phe) c.2050A>T (p.Ile684Phe) c.1958A>T (n.1958A>T) n.2484A>T c.2308A>T (p.Ile770Phe) | gnomAD v4 |
| 4 | g.6302095T>A | CA356178314 | WFS1 | c.2336T>A (p.Ile779Asn) c.2277T>A c.2300T>A (p.Ile767Asn) c.2051T>A (p.Ile684Asn) c.1959T>A (n.1959T>A) n.2485T>A c.2309T>A (p.Ile770Asn) | |
| 4 | g.6302095T>C | CA356178315 | WFS1 | c.2336T>C (p.Ile779Thr) c.2277T>C c.2300T>C (p.Ile767Thr) c.2051T>C (p.Ile684Thr) c.1959T>C (n.1959T>C) n.2485T>C c.2309T>C (p.Ile770Thr) | gnomAD v4 |
| 4 | g.6302095T>G | CA356178316 | WFS1 | c.2336T>G (p.Ile779Ser) c.2277T>G c.2300T>G (p.Ile767Ser) c.2051T>G (p.Ile684Ser) c.1959T>G (n.1959T>G) n.2485T>G c.2309T>G (p.Ile770Ser) | |
| 4 | g.6302096C>A | CA91797029 | WFS1 | c.2337C>A (p.Ile779=) c.2278C>A c.2301C>A (p.Ile767=) c.2052C>A (p.Ile684=) c.1960C>A (n.1960C>A) n.2486C>A c.2310C>A (p.Ile770=) | dbSNP |
| 4 | g.6302096C= | CA1435772328 | WFS1 | c.2337C= (p.Ile779=) c.2278C= c.2301C= (p.Ile767=) c.2052C= (p.Ile684=) c.1960C= (n.1960C=) n.2486C= c.2310C= (p.Ile770=) | |
| 4 | g.6302096C>G | CA356178317 | WFS1 | c.2337C>G (p.Ile779Met) c.2278C>G c.2301C>G (p.Ile767Met) c.2052C>G (p.Ile684Met) c.1960C>G (n.1960C>G) n.2486C>G c.2310C>G (p.Ile770Met) | gnomAD v4 |
| 4 | g.6302096C>T | CA438368249 | WFS1 | c.2337C>T (p.Ile779=) c.2278C>T c.2301C>T (p.Ile767=) c.2052C>T (p.Ile684=) c.1960C>T (n.1960C>T) n.2486C>T c.2310C>T (p.Ile770=) | dbSNP |
| 4 | g.6302097A>C | CA356178318 | WFS1 | c.2338A>C (p.Lys780Gln) c.2279A>C c.2302A>C (p.Lys768Gln) c.2053A>C (p.Lys685Gln) c.1961A>C (n.1961A>C) n.2487A>C c.2311A>C (p.Lys771Gln) | gnomAD v4 |
| 4 | g.6302097A>G | CA356178319 | WFS1 | c.2338A>G (p.Lys780Glu) c.2279A>G c.2302A>G (p.Lys768Glu) c.2053A>G (p.Lys685Glu) c.1961A>G (n.1961A>G) n.2487A>G c.2311A>G (p.Lys771Glu) | |
| 4 | g.6302097A>T | CA356178320 | WFS1 | c.2338A>T (p.Lys780Ter) c.2279A>T c.2302A>T (p.Lys768Ter) c.2053A>T (p.Lys685Ter) c.1961A>T (n.1961A>T) n.2487A>T c.2311A>T (p.Lys771Ter) | |
| 4 | g.6302100_6302102del | CA2669843458 | WFS1 | c.2341_2343del (p.Lys781del) c.2282_2284del c.2305_2307del (p.Lys769del) c.2056_2058del (p.Lys686del) c.1964_1966del (n.1964_1966del) n.2490_2492del c.2314_2316del (p.Lys772del) | gnomAD v4 |
| 4 | g.6302098A= | CA1435772329 | WFS1 | c.2339A= (p.Lys780=) c.2280A= c.2303A= (p.Lys768=) c.2054A= (p.Lys685=) c.1962A= (n.1962A=) n.2488A= c.2312A= (p.Lys771=) | |
| 4 | g.6302098A>C | CA356178321 | WFS1 | c.2339A>C (p.Lys780Thr) c.2280A>C c.2303A>C (p.Lys768Thr) c.2054A>C (p.Lys685Thr) c.1962A>C (n.1962A>C) n.2488A>C c.2312A>C (p.Lys771Thr) | |
| 4 | g.6302098A>G | CA356178322 | WFS1 | c.2339A>G (p.Lys780Arg) c.2280A>G c.2303A>G (p.Lys768Arg) c.2054A>G (p.Lys685Arg) c.1962A>G (n.1962A>G) n.2488A>G c.2312A>G (p.Lys771Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.6302098A>T | CA356178323 | WFS1 | c.2339A>T (p.Lys780Met) c.2280A>T c.2303A>T (p.Lys768Met) c.2054A>T (p.Lys685Met) c.1962A>T (n.1962A>T) n.2488A>T c.2312A>T (p.Lys771Met) | |
| 4 | g.6302099G>A | CA438368250 | WFS1 | c.2340G>A (p.Lys780=) c.2281G>A c.2304G>A (p.Lys768=) c.2055G>A (p.Lys685=) c.1963G>A (n.1963G>A) n.2489G>A c.2313G>A (p.Lys771=) | |
| 4 | g.6302099G>C | CA356178324 | WFS1 | c.2340G>C (p.Lys780Asn) c.2281G>C c.2304G>C (p.Lys768Asn) c.2055G>C (p.Lys685Asn) c.1963G>C (n.1963G>C) n.2489G>C c.2313G>C (p.Lys771Asn) | |
| 4 | g.6302099G>T | CA356178325 | WFS1 | c.2340G>T (p.Lys780Asn) c.2281G>T c.2304G>T (p.Lys768Asn) c.2055G>T (p.Lys685Asn) c.1963G>T (n.1963G>T) n.2489G>T c.2313G>T (p.Lys771Asn) | |
| 4 | g.6302100A>C | CA356178326 | WFS1 | c.2341A>C (p.Lys781Gln) c.2282A>C c.2305A>C (p.Lys769Gln) c.2056A>C (p.Lys686Gln) c.1964A>C (n.1964A>C) n.2490A>C c.2314A>C (p.Lys772Gln) | |
| 4 | g.6302100A>G | CA356178327 | WFS1 | c.2341A>G (p.Lys781Glu) c.2282A>G c.2305A>G (p.Lys769Glu) c.2056A>G (p.Lys686Glu) c.1964A>G (n.1964A>G) n.2490A>G c.2314A>G (p.Lys772Glu) | |
| 4 | g.6302100A>T | CA356178328 | WFS1 | c.2341A>T (p.Lys781Ter) c.2282A>T c.2305A>T (p.Lys769Ter) c.2056A>T (p.Lys686Ter) c.1964A>T (n.1964A>T) n.2490A>T c.2314A>T (p.Lys772Ter) | |
| 4 | g.6302101A= | CA1435772331 | WFS1 | c.2342A= (p.Lys781=) c.2283A= c.2306A= (p.Lys769=) c.2057A= (p.Lys686=) c.1965A= (n.1965A=) n.2491A= c.2315A= (p.Lys772=) | |
| 4 | g.6302101A>C | CA356178329 | WFS1 | c.2342A>C (p.Lys781Thr) c.2283A>C c.2306A>C (p.Lys769Thr) c.2057A>C (p.Lys686Thr) c.1965A>C (n.1965A>C) n.2491A>C c.2315A>C (p.Lys772Thr) | |
| 4 | g.6302101A>G | CA356178330 | WFS1 | c.2342A>G (p.Lys781Arg) c.2283A>G c.2306A>G (p.Lys769Arg) c.2057A>G (p.Lys686Arg) c.1965A>G (n.1965A>G) n.2491A>G c.2315A>G (p.Lys772Arg) | dbSNP gnomAD v4 |
| 4 | g.6302101A>T | CA356178331 | WFS1 | c.2342A>T (p.Lys781Met) c.2283A>T c.2306A>T (p.Lys769Met) c.2057A>T (p.Lys686Met) c.1965A>T (n.1965A>T) n.2491A>T c.2315A>T (p.Lys772Met) | |
| 4 | g.6302102G>A | CA438368251 | WFS1 | c.2343G>A (p.Lys781=) c.2284G>A c.2307G>A (p.Lys769=) c.2058G>A (p.Lys686=) c.1966G>A (n.1966G>A) n.2492G>A c.2316G>A (p.Lys772=) | gnomAD v4 |
| 4 | g.6302102G>C | CA356178332 | WFS1 | c.2343G>C (p.Lys781Asn) c.2284G>C c.2307G>C (p.Lys769Asn) c.2058G>C (p.Lys686Asn) c.1966G>C (n.1966G>C) n.2492G>C c.2316G>C (p.Lys772Asn) | gnomAD v4 |
| 4 | g.6302102G>T | CA356178333 | WFS1 | c.2343G>T (p.Lys781Asn) c.2284G>T c.2307G>T (p.Lys769Asn) c.2058G>T (p.Lys686Asn) c.1966G>T (n.1966G>T) n.2492G>T c.2316G>T (p.Lys772Asn) | |
| 4 | g.6302103T>A | CA356178334 | WFS1 | c.2344T>A (p.Phe782Ile) c.2285T>A c.2308T>A (p.Phe770Ile) c.2059T>A (p.Phe687Ile) c.1967T>A (n.1967T>A) n.2493T>A c.2317T>A (p.Phe773Ile) | |
| 4 | g.6302103T>C | CA356178335 | WFS1 | c.2344T>C (p.Phe782Leu) c.2285T>C c.2308T>C (p.Phe770Leu) c.2059T>C (p.Phe687Leu) c.1967T>C (n.1967T>C) n.2493T>C c.2317T>C (p.Phe773Leu) | |
| 4 | g.6302103T>G | CA356178336 | WFS1 | c.2344T>G (p.Phe782Val) c.2285T>G c.2308T>G (p.Phe770Val) c.2059T>G (p.Phe687Val) c.1967T>G (n.1967T>G) n.2493T>G c.2317T>G (p.Phe773Val) | |
| 4 | g.6302104T>A | CA356178337 | WFS1 | c.2345T>A (p.Phe782Tyr) c.2286T>A c.2309T>A (p.Phe770Tyr) c.2060T>A (p.Phe687Tyr) c.1968T>A (n.1968T>A) n.2494T>A c.2318T>A (p.Phe773Tyr) | |
| 4 | g.6302104T>C | CA356178338 | WFS1 | c.2345T>C (p.Phe782Ser) c.2286T>C c.2309T>C (p.Phe770Ser) c.2060T>C (p.Phe687Ser) c.1968T>C (n.1968T>C) n.2494T>C c.2318T>C (p.Phe773Ser) |