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 |
|---|---|---|---|---|---|
| 20 | g.51784304_51785229delinsCTAAGGCAGGAGAATCACTTGAACCCAGAAT | CA645610833 | SALL4 | c.2743-545_3123delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.412-545_792delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.1432-545_1812delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.2437-545_2817delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG c.2617-545_2997delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG | COSMIC |
| 20 | g.51784592G>A | CA9911986 | SALL4 | c.2835C>T (p.Asp945=) c.504C>T (p.Asp168=) c.1524C>T (p.Asp508=) c.2529C>T (p.Asp843=) c.2709C>T (p.Asp903=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784592G>C | CA409006226 | SALL4 | c.2835C>G (p.Asp945Glu) c.504C>G (p.Asp168Glu) c.1524C>G (p.Asp508Glu) c.2529C>G (p.Asp843Glu) c.2709C>G (p.Asp903Glu) | |
| 20 | g.51784592G= | CA2369155345 | SALL4 | c.2835C= (p.Asp945=) c.504C= (p.Asp168=) c.1524C= (p.Asp508=) c.2529C= (p.Asp843=) c.2709C= (p.Asp903=) | |
| 20 | g.51784592G>T | CA409006227 | SALL4 | c.2835C>A (p.Asp945Glu) c.504C>A (p.Asp168Glu) c.1524C>A (p.Asp508Glu) c.2529C>A (p.Asp843Glu) c.2709C>A (p.Asp903Glu) | dbSNP gnomAD v4 |
| 20 | g.51784593T>A | CA409006230 | SALL4 | c.2834A>T (p.Asp945Val) c.503A>T (p.Asp168Val) c.1523A>T (p.Asp508Val) c.2528A>T (p.Asp843Val) c.2708A>T (p.Asp903Val) | |
| 20 | g.51784593T>C | CA409006229 | SALL4 | c.2834A>G (p.Asp945Gly) c.503A>G (p.Asp168Gly) c.1523A>G (p.Asp508Gly) c.2528A>G (p.Asp843Gly) c.2708A>G (p.Asp903Gly) | dbSNP gnomAD v4 |
| 20 | g.51784593T>G | CA409006228 | SALL4 | c.2834A>C (p.Asp945Ala) c.503A>C (p.Asp168Ala) c.1523A>C (p.Asp508Ala) c.2528A>C (p.Asp843Ala) c.2708A>C (p.Asp903Ala) | |
| 20 | g.51784593T= | CA2369155346 | SALL4 | c.2834A= (p.Asp945=) c.503A= (p.Asp168=) c.1523A= (p.Asp508=) c.2528A= (p.Asp843=) c.2708A= (p.Asp903=) | |
| 20 | g.51784594C>A | CA409006231 | SALL4 | c.2833G>T (p.Asp945Tyr) c.502G>T (p.Asp168Tyr) c.1522G>T (p.Asp508Tyr) c.2527G>T (p.Asp843Tyr) c.2707G>T (p.Asp903Tyr) | |
| 20 | g.51784594C= | CA2369155347 | SALL4 | c.2833G= (p.Asp945=) c.502G= (p.Asp168=) c.1522G= (p.Asp508=) c.2527G= (p.Asp843=) c.2707G= (p.Asp903=) | |
| 20 | g.51784594C>G | CA409006232 | SALL4 | c.2833G>C (p.Asp945His) c.502G>C (p.Asp168His) c.1522G>C (p.Asp508His) c.2527G>C (p.Asp843His) c.2707G>C (p.Asp903His) | |
| 20 | g.51784594C>T | CA9911987 | SALL4 | c.2833G>A (p.Asp945Asn) c.502G>A (p.Asp168Asn) c.1522G>A (p.Asp508Asn) c.2527G>A (p.Asp843Asn) c.2707G>A (p.Asp903Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784594_51784595delinsTT | CA645610836 | SALL4 | c.2832_2833delinsAA (p.Asp945Asn) c.501_502delinsAA (p.Asp168Asn) c.1521_1522delinsAA (p.Asp508Asn) c.2526_2527delinsAA (p.Asp843Asn) c.2706_2707delinsAA (p.Asp903Asn) | COSMIC |
| 20 | g.51784595C>A | CA511025843 | SALL4 | c.2832G>T (p.Thr944=) c.501G>T (p.Thr167=) c.1521G>T (p.Thr507=) c.2526G>T (p.Thr842=) c.2706G>T (p.Thr902=) | |
| 20 | g.51784595C= | CA2369155348 | SALL4 | c.2832G= (p.Thr944=) c.501G= (p.Thr167=) c.1521G= (p.Thr507=) c.2526G= (p.Thr842=) c.2706G= (p.Thr902=) | |
| 20 | g.51784595C>G | CA511025844 | SALL4 | c.2832G>C (p.Thr944=) c.501G>C (p.Thr167=) c.1521G>C (p.Thr507=) c.2526G>C (p.Thr842=) c.2706G>C (p.Thr902=) | |
| 20 | g.51784595C>T | CA9911988 | SALL4 | c.2832G>A (p.Thr944=) c.501G>A (p.Thr167=) c.1521G>A (p.Thr507=) c.2526G>A (p.Thr842=) c.2706G>A (p.Thr902=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784596G>A | CA409006233 | SALL4 | c.2831C>T (p.Thr944Met) c.500C>T (p.Thr167Met) c.1520C>T (p.Thr507Met) c.2525C>T (p.Thr842Met) c.2705C>T (p.Thr902Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784596G>C | CA409006234 | SALL4 | c.2831C>G (p.Thr944Arg) c.500C>G (p.Thr167Arg) c.1520C>G (p.Thr507Arg) c.2525C>G (p.Thr842Arg) c.2705C>G (p.Thr902Arg) | gnomAD v4 |
| 20 | g.51784596G= | CA2369155349 | SALL4 | c.2831C= (p.Thr944=) c.500C= (p.Thr167=) c.1520C= (p.Thr507=) c.2525C= (p.Thr842=) c.2705C= (p.Thr902=) | |
| 20 | g.51784596G>T | CA409006235 | SALL4 | c.2831C>A (p.Thr944Lys) c.500C>A (p.Thr167Lys) c.1520C>A (p.Thr507Lys) c.2525C>A (p.Thr842Lys) c.2705C>A (p.Thr902Lys) | |
| 20 | g.51784597T>A | CA409006236 | SALL4 | c.2830A>T (p.Thr944Ser) c.499A>T (p.Thr167Ser) c.1519A>T (p.Thr507Ser) c.2524A>T (p.Thr842Ser) c.2704A>T (p.Thr902Ser) | |
| 20 | g.51784597T>C | CA9911989 | SALL4 | c.2830A>G (p.Thr944Ala) c.499A>G (p.Thr167Ala) c.1519A>G (p.Thr507Ala) c.2524A>G (p.Thr842Ala) c.2704A>G (p.Thr902Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51784597T>G | CA409006237 | SALL4 | c.2830A>C (p.Thr944Pro) c.499A>C (p.Thr167Pro) c.1519A>C (p.Thr507Pro) c.2524A>C (p.Thr842Pro) c.2704A>C (p.Thr902Pro) | |
| 20 | g.51784597T= | CA2369155350 | SALL4 | c.2830A= (p.Thr944=) c.499A= (p.Thr167=) c.1519A= (p.Thr507=) c.2524A= (p.Thr842=) c.2704A= (p.Thr902=) | |
| 20 | g.51784598A>C | CA511025848 | SALL4 | c.2829T>G (p.Gly943=) c.498T>G (p.Gly166=) c.1518T>G (p.Gly506=) c.2523T>G (p.Gly841=) c.2703T>G (p.Gly901=) | |
| 20 | g.51784598A>G | CA511025849 | SALL4 | c.2829T>C (p.Gly943=) c.498T>C (p.Gly166=) c.1518T>C (p.Gly506=) c.2523T>C (p.Gly841=) c.2703T>C (p.Gly901=) | |
| 20 | g.51784598A>T | CA511025850 | SALL4 | c.2829T>A (p.Gly943=) c.498T>A (p.Gly166=) c.1518T>A (p.Gly506=) c.2523T>A (p.Gly841=) c.2703T>A (p.Gly901=) | |
| 20 | g.51784599C>A | CA409006238 | SALL4 | c.2828G>T (p.Gly943Val) c.497G>T (p.Gly166Val) c.1517G>T (p.Gly506Val) c.2522G>T (p.Gly841Val) c.2702G>T (p.Gly901Val) | |
| 20 | g.51784599C>G | CA409006239 | SALL4 | c.2828G>C (p.Gly943Ala) c.497G>C (p.Gly166Ala) c.1517G>C (p.Gly506Ala) c.2522G>C (p.Gly841Ala) c.2702G>C (p.Gly901Ala) | |
| 20 | g.51784599C>T | CA409006240 | SALL4 | c.2828G>A (p.Gly943Asp) c.497G>A (p.Gly166Asp) c.1517G>A (p.Gly506Asp) c.2522G>A (p.Gly841Asp) c.2702G>A (p.Gly901Asp) | |
| 20 | g.51784600C>A | CA409006242 | SALL4 | c.2827G>T (p.Gly943Cys) c.496G>T (p.Gly166Cys) c.1516G>T (p.Gly506Cys) c.2521G>T (p.Gly841Cys) c.2701G>T (p.Gly901Cys) | |
| 20 | g.51784600C= | CA2369155351 | SALL4 | c.2827G= (p.Gly943=) c.496G= (p.Gly166=) c.1516G= (p.Gly506=) c.2521G= (p.Gly841=) c.2701G= (p.Gly901=) | |
| 20 | g.51784600C>G | CA409006243 | SALL4 | c.2827G>C (p.Gly943Arg) c.496G>C (p.Gly166Arg) c.1516G>C (p.Gly506Arg) c.2521G>C (p.Gly841Arg) c.2701G>C (p.Gly901Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.51784600C>T | CA409006241 | SALL4 | c.2827G>A (p.Gly943Ser) c.496G>A (p.Gly166Ser) c.1516G>A (p.Gly506Ser) c.2521G>A (p.Gly841Ser) c.2701G>A (p.Gly901Ser) | |
| 20 | g.51784601T>A | CA409006245 | SALL4 | c.2826A>T (p.Leu942Phe) c.495A>T (p.Leu165Phe) c.1515A>T (p.Leu505Phe) c.2520A>T (p.Leu840Phe) c.2700A>T (p.Leu900Phe) | |
| 20 | g.51784601T>C | CA511025854 | SALL4 | c.2826A>G (p.Leu942=) c.495A>G (p.Leu165=) c.1515A>G (p.Leu505=) c.2520A>G (p.Leu840=) c.2700A>G (p.Leu900=) | |
| 20 | g.51784601T>G | CA409006244 | SALL4 | c.2826A>C (p.Leu942Phe) c.495A>C (p.Leu165Phe) c.1515A>C (p.Leu505Phe) c.2520A>C (p.Leu840Phe) c.2700A>C (p.Leu900Phe) | |
| 20 | g.51784602A>C | CA409006246 | SALL4 | c.2825T>G (p.Leu942Ter) c.494T>G (p.Leu165Ter) c.1514T>G (p.Leu505Ter) c.2519T>G (p.Leu840Ter) c.2699T>G (p.Leu900Ter) | |
| 20 | g.51784602A>G | CA409006247 | SALL4 | c.2825T>C (p.Leu942Ser) c.494T>C (p.Leu165Ser) c.1514T>C (p.Leu505Ser) c.2519T>C (p.Leu840Ser) c.2699T>C (p.Leu900Ser) | gnomAD v4 |
| 20 | g.51784602A>T | CA409006248 | SALL4 | c.2825T>A (p.Leu942Ter) c.494T>A (p.Leu165Ter) c.1514T>A (p.Leu505Ter) c.2519T>A (p.Leu840Ter) c.2699T>A (p.Leu900Ter) | |
| 20 | g.51784603A>C | CA409006249 | SALL4 | c.2824T>G (p.Leu942Val) c.493T>G (p.Leu165Val) c.1513T>G (p.Leu505Val) c.2518T>G (p.Leu840Val) c.2698T>G (p.Leu900Val) | |
| 20 | g.51784603A>G | CA511025857 | SALL4 | c.2824T>C (p.Leu942=) c.493T>C (p.Leu165=) c.1513T>C (p.Leu505=) c.2518T>C (p.Leu840=) c.2698T>C (p.Leu900=) | gnomAD v4 |
| 20 | g.51784603A>T | CA409006250 | SALL4 | c.2824T>A (p.Leu942Ile) c.493T>A (p.Leu165Ile) c.1513T>A (p.Leu505Ile) c.2518T>A (p.Leu840Ile) c.2698T>A (p.Leu900Ile) | |
| 20 | g.51784604C>A | CA511025860 | SALL4 | c.2823G>T (p.Leu941=) c.492G>T (p.Leu164=) c.1512G>T (p.Leu504=) c.2517G>T (p.Leu839=) c.2697G>T (p.Leu899=) | dbSNP gnomAD v4 |
| 20 | g.51784604C= | CA2369155352 | SALL4 | c.2823G= (p.Leu941=) c.492G= (p.Leu164=) c.1512G= (p.Leu504=) c.2517G= (p.Leu839=) c.2697G= (p.Leu899=) | |
| 20 | g.51784604C>G | CA511025861 | SALL4 | c.2823G>C (p.Leu941=) c.492G>C (p.Leu164=) c.1512G>C (p.Leu504=) c.2517G>C (p.Leu839=) c.2697G>C (p.Leu899=) | |
| 20 | g.51784604C>T | CA9911990 | SALL4 | c.2823G>A (p.Leu941=) c.492G>A (p.Leu164=) c.1512G>A (p.Leu504=) c.2517G>A (p.Leu839=) c.2697G>A (p.Leu899=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51784605A= | CA2369155353 | SALL4 | c.2822T= (p.Leu941=) c.491T= (p.Leu164=) c.1511T= (p.Leu504=) c.2516T= (p.Leu839=) c.2696T= (p.Leu899=) |