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.51788963_51788965del | CA2653358930 | SALL4 | c.2640_2642del (p.Ser881del) c.309_311del (p.Ser104del) c.1329_1331del (p.Ser444del) c.2334_2336del (p.Ser779del) c.2514_2516del (p.Ser839del) | gnomAD v4 |
| 20 | g.51788963C>A | CA511025869 | SALL4 | c.2640G>T (p.Ser880=) c.309G>T (p.Ser103=) c.1329G>T (p.Ser443=) c.2334G>T (p.Ser778=) c.2514G>T (p.Ser838=) | gnomAD v4 |
| 20 | g.51788963C= | CA2369157350 | SALL4 | c.2640G= (p.Ser880=) c.309G= (p.Ser103=) c.1329G= (p.Ser443=) c.2334G= (p.Ser778=) c.2514G= (p.Ser838=) | |
| 20 | g.51788963C>G | CA9912039 | SALL4 | c.2640G>C (p.Ser880=) c.309G>C (p.Ser103=) c.1329G>C (p.Ser443=) c.2334G>C (p.Ser778=) c.2514G>C (p.Ser838=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51788963C>T | CA9912040 | SALL4 | c.2640G>A (p.Ser880=) c.309G>A (p.Ser103=) c.1329G>A (p.Ser443=) c.2334G>A (p.Ser778=) c.2514G>A (p.Ser838=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.51788964G>A | CA409006661 | SALL4 | c.2639C>T (p.Ser880Leu) c.308C>T (p.Ser103Leu) c.1328C>T (p.Ser443Leu) c.2333C>T (p.Ser778Leu) c.2513C>T (p.Ser838Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.51788964G>C | CA409006662 | SALL4 | c.2639C>G (p.Ser880Trp) c.308C>G (p.Ser103Trp) c.1328C>G (p.Ser443Trp) c.2333C>G (p.Ser778Trp) c.2513C>G (p.Ser838Trp) | |
| 20 | g.51788964G= | CA2369157351 | SALL4 | c.2639C= (p.Ser880=) c.308C= (p.Ser103=) c.1328C= (p.Ser443=) c.2333C= (p.Ser778=) c.2513C= (p.Ser838=) | |
| 20 | g.51788964G>T | CA409006663 | SALL4 | c.2639C>A (p.Ser880Ter) c.308C>A (p.Ser103Ter) c.1328C>A (p.Ser443Ter) c.2333C>A (p.Ser778Ter) c.2513C>A (p.Ser838Ter) | |
| 20 | g.51788965A>C | CA409006666 | SALL4 | c.2638T>G (p.Ser880Ala) c.307T>G (p.Ser103Ala) c.1327T>G (p.Ser443Ala) c.2332T>G (p.Ser778Ala) c.2512T>G (p.Ser838Ala) | |
| 20 | g.51788965A>G | CA409006665 | SALL4 | c.2638T>C (p.Ser880Pro) c.307T>C (p.Ser103Pro) c.1327T>C (p.Ser443Pro) c.2332T>C (p.Ser778Pro) c.2512T>C (p.Ser838Pro) | |
| 20 | g.51788965A>T | CA409006664 | SALL4 | c.2638T>A (p.Ser880Thr) c.307T>A (p.Ser103Thr) c.1327T>A (p.Ser443Thr) c.2332T>A (p.Ser778Thr) c.2512T>A (p.Ser838Thr) | |
| 20 | g.51788966G>A | CA9912041 | SALL4 | c.2637C>T (p.Phe879=) c.306C>T (p.Phe102=) c.1326C>T (p.Phe442=) c.2331C>T (p.Phe777=) c.2511C>T (p.Phe837=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.51788966G>C | CA409006667 | SALL4 | c.2637C>G (p.Phe879Leu) c.306C>G (p.Phe102Leu) c.1326C>G (p.Phe442Leu) c.2331C>G (p.Phe777Leu) c.2511C>G (p.Phe837Leu) | |
| 20 | g.51788966G= | CA2369157352 | SALL4 | c.2637C= (p.Phe879=) c.306C= (p.Phe102=) c.1326C= (p.Phe442=) c.2331C= (p.Phe777=) c.2511C= (p.Phe837=) | |
| 20 | g.51788966G>T | CA409006668 | SALL4 | c.2637C>A (p.Phe879Leu) c.306C>A (p.Phe102Leu) c.1326C>A (p.Phe442Leu) c.2331C>A (p.Phe777Leu) c.2511C>A (p.Phe837Leu) | |
| 20 | g.51788967A>C | CA409006669 | SALL4 | c.2636T>G (p.Phe879Cys) c.305T>G (p.Phe102Cys) c.1325T>G (p.Phe442Cys) c.2330T>G (p.Phe777Cys) c.2510T>G (p.Phe837Cys) | |
| 20 | g.51788967A>G | CA409006670 | SALL4 | c.2636T>C (p.Phe879Ser) c.305T>C (p.Phe102Ser) c.1325T>C (p.Phe442Ser) c.2330T>C (p.Phe777Ser) c.2510T>C (p.Phe837Ser) | |
| 20 | g.51788967A>T | CA409006671 | SALL4 | c.2636T>A (p.Phe879Tyr) c.305T>A (p.Phe102Tyr) c.1325T>A (p.Phe442Tyr) c.2330T>A (p.Phe777Tyr) c.2510T>A (p.Phe837Tyr) | |
| 20 | g.51788968A>C | CA409006674 | SALL4 | c.2635T>G (p.Phe879Val) c.304T>G (p.Phe102Val) c.1324T>G (p.Phe442Val) c.2329T>G (p.Phe777Val) c.2509T>G (p.Phe837Val) | |
| 20 | g.51788968A>G | CA409006672 | SALL4 | c.2635T>C (p.Phe879Leu) c.304T>C (p.Phe102Leu) c.1324T>C (p.Phe442Leu) c.2329T>C (p.Phe777Leu) c.2509T>C (p.Phe837Leu) | |
| 20 | g.51788968A>T | CA409006673 | SALL4 | c.2635T>A (p.Phe879Ile) c.304T>A (p.Phe102Ile) c.1324T>A (p.Phe442Ile) c.2329T>A (p.Phe777Ile) c.2509T>A (p.Phe837Ile) | |
| 20 | g.51788969G>A | CA511025873 | SALL4 | c.2634C>T (p.Asn878=) c.303C>T (p.Asn101=) c.1323C>T (p.Asn441=) c.2328C>T (p.Asn776=) c.2508C>T (p.Asn836=) | dbSNP |
| 20 | g.51788969G>C | CA409006675 | SALL4 | c.2634C>G (p.Asn878Lys) c.303C>G (p.Asn101Lys) c.1323C>G (p.Asn441Lys) c.2328C>G (p.Asn776Lys) c.2508C>G (p.Asn836Lys) | |
| 20 | g.51788969G>T | CA409006676 | SALL4 | c.2634C>A (p.Asn878Lys) c.303C>A (p.Asn101Lys) c.1323C>A (p.Asn441Lys) c.2328C>A (p.Asn776Lys) c.2508C>A (p.Asn836Lys) | |
| 20 | g.51788970T>A | CA409006677 | SALL4 | c.2633A>T (p.Asn878Ile) c.302A>T (p.Asn101Ile) c.1322A>T (p.Asn441Ile) c.2327A>T (p.Asn776Ile) c.2507A>T (p.Asn836Ile) | |
| 20 | g.51788970T>C | CA409006678 | SALL4 | c.2633A>G (p.Asn878Ser) c.302A>G (p.Asn101Ser) c.1322A>G (p.Asn441Ser) c.2327A>G (p.Asn776Ser) c.2507A>G (p.Asn836Ser) | gnomAD v4 |
| 20 | g.51788970T>G | CA409006679 | SALL4 | c.2633A>C (p.Asn878Thr) c.302A>C (p.Asn101Thr) c.1322A>C (p.Asn441Thr) c.2327A>C (p.Asn776Thr) c.2507A>C (p.Asn836Thr) | |
| 20 | g.51788971T>A | CA409006680 | SALL4 | c.2632A>T (p.Asn878Tyr) c.301A>T (p.Asn101Tyr) c.1321A>T (p.Asn441Tyr) c.2326A>T (p.Asn776Tyr) c.2506A>T (p.Asn836Tyr) | |
| 20 | g.51788971T>C | CA409006682 | SALL4 | c.2632A>G (p.Asn878Asp) c.301A>G (p.Asn101Asp) c.1321A>G (p.Asn441Asp) c.2326A>G (p.Asn776Asp) c.2506A>G (p.Asn836Asp) | |
| 20 | g.51788971T>G | CA409006681 | SALL4 | c.2632A>C (p.Asn878His) c.301A>C (p.Asn101His) c.1321A>C (p.Asn441His) c.2326A>C (p.Asn776His) c.2506A>C (p.Asn836His) | |
| 20 | g.51788972C>A | CA409006683 | SALL4 | c.2631G>T (p.Lys877Asn) c.300G>T (p.Lys100Asn) c.1320G>T (p.Lys440Asn) c.2325G>T (p.Lys775Asn) c.2505G>T (p.Lys835Asn) | |
| 20 | g.51788972C>G | CA409006684 | SALL4 | c.2631G>C (p.Lys877Asn) c.300G>C (p.Lys100Asn) c.1320G>C (p.Lys440Asn) c.2325G>C (p.Lys775Asn) c.2505G>C (p.Lys835Asn) | |
| 20 | g.51788972C>T | CA511025875 | SALL4 | c.2631G>A (p.Lys877=) c.300G>A (p.Lys100=) c.1320G>A (p.Lys440=) c.2325G>A (p.Lys775=) c.2505G>A (p.Lys835=) | |
| 20 | g.51788973T>A | CA409006685 | SALL4 | c.2630A>T (p.Lys877Met) c.299A>T (p.Lys100Met) c.1319A>T (p.Lys440Met) c.2324A>T (p.Lys775Met) c.2504A>T (p.Lys835Met) | |
| 20 | g.51788973T>C | CA409006686 | SALL4 | c.2630A>G (p.Lys877Arg) c.299A>G (p.Lys100Arg) c.1319A>G (p.Lys440Arg) c.2324A>G (p.Lys775Arg) c.2504A>G (p.Lys835Arg) | |
| 20 | g.51788973T>G | CA409006687 | SALL4 | c.2630A>C (p.Lys877Thr) c.299A>C (p.Lys100Thr) c.1319A>C (p.Lys440Thr) c.2324A>C (p.Lys775Thr) c.2504A>C (p.Lys835Thr) | |
| 20 | g.51788974T>A | CA409006688 | SALL4 | c.2629A>T (p.Lys877Ter) c.298A>T (p.Lys100Ter) c.1318A>T (p.Lys440Ter) c.2323A>T (p.Lys775Ter) c.2503A>T (p.Lys835Ter) | |
| 20 | g.51788974T>C | CA409006689 | SALL4 | c.2629A>G (p.Lys877Glu) c.298A>G (p.Lys100Glu) c.1318A>G (p.Lys440Glu) c.2323A>G (p.Lys775Glu) c.2503A>G (p.Lys835Glu) | |
| 20 | g.51788974T>G | CA409006690 | SALL4 | c.2629A>C (p.Lys877Gln) c.298A>C (p.Lys100Gln) c.1318A>C (p.Lys440Gln) c.2323A>C (p.Lys775Gln) c.2503A>C (p.Lys835Gln) | |
| 20 | g.51788975C>A | CA511025877 | SALL4 | c.2628G>T (p.Gly876=) c.297G>T (p.Gly99=) c.1317G>T (p.Gly439=) c.2322G>T (p.Gly774=) c.2502G>T (p.Gly834=) | dbSNP |
| 20 | g.51788975C= | CA2369157353 | SALL4 | c.2628G= (p.Gly876=) c.297G= (p.Gly99=) c.1317G= (p.Gly439=) c.2322G= (p.Gly774=) c.2502G= (p.Gly834=) | |
| 20 | g.51788975C>G | CA511025878 | SALL4 | c.2628G>C (p.Gly876=) c.297G>C (p.Gly99=) c.1317G>C (p.Gly439=) c.2322G>C (p.Gly774=) c.2502G>C (p.Gly834=) | |
| 20 | g.51788975C>T | CA511025879 | SALL4 | c.2628G>A (p.Gly876=) c.297G>A (p.Gly99=) c.1317G>A (p.Gly439=) c.2322G>A (p.Gly774=) c.2502G>A (p.Gly834=) | dbSNP gnomAD v4 |
| 20 | g.51788976C>A | CA409006691 | SALL4 | c.2627G>T (p.Gly876Val) c.296G>T (p.Gly99Val) c.1316G>T (p.Gly439Val) c.2321G>T (p.Gly774Val) c.2501G>T (p.Gly834Val) | |
| 20 | g.51788976C>G | CA409006692 | SALL4 | c.2627G>C (p.Gly876Ala) c.296G>C (p.Gly99Ala) c.1316G>C (p.Gly439Ala) c.2321G>C (p.Gly774Ala) c.2501G>C (p.Gly834Ala) | |
| 20 | g.51788976C>T | CA409006693 | SALL4 | c.2627G>A (p.Gly876Glu) c.296G>A (p.Gly99Glu) c.1316G>A (p.Gly439Glu) c.2321G>A (p.Gly774Glu) c.2501G>A (p.Gly834Glu) | |
| 20 | g.51788977C>A | CA409006695 | SALL4 | c.2626G>T (p.Gly876Trp) c.295G>T (p.Gly99Trp) c.1315G>T (p.Gly439Trp) c.2320G>T (p.Gly774Trp) c.2500G>T (p.Gly834Trp) | |
| 20 | g.51788977C= | CA2369157354 | SALL4 | c.2626G= (p.Gly876=) c.295G= (p.Gly99=) c.1315G= (p.Gly439=) c.2320G= (p.Gly774=) c.2500G= (p.Gly834=) | |
| 20 | g.51788977C>G | CA9912042 | SALL4 | c.2626G>C (p.Gly876Arg) c.295G>C (p.Gly99Arg) c.1315G>C (p.Gly439Arg) c.2320G>C (p.Gly774Arg) c.2500G>C (p.Gly834Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |