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 |
|---|---|---|---|---|---|
| 10 | g.102832521_102832524delinsCGTT | CA1932870458 | CYP17A1,WBP1L | c.1126_1129delinsAACG (p.Asn376=) c.823_826delinsAACG (p.Asn275=) c.670_673delinsAACG (p.Asn224=) c.1039_1042delinsAACG (p.Asn347=) n.888_891delinsAACG c.*1552_*1555delinsCGTT (n.*1552_*1555delinsCGTT) | |
| 10 | g.102832523_102832525del | CA595636696 | CYP17A1,WBP1L | c.1126_1128del (p.Asn376del) c.823_825del (p.Asn275del) c.670_672del (p.Asn224del) c.1039_1041del (p.Asn347del) n.888_890del c.*1554_*1556del (n.*1554_*1556del) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102832523T>A | CA377938677 | CYP17A1,WBP1L | c.1127A>T (p.Asn376Ile) c.824A>T (p.Asn275Ile) c.671A>T (p.Asn224Ile) c.1040A>T (p.Asn347Ile) n.889A>T c.*1554T>A (n.*1554T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.102832523T>C | CA377938678 | CYP17A1,WBP1L | c.1127A>G (p.Asn376Ser) c.824A>G (p.Asn275Ser) c.671A>G (p.Asn224Ser) c.1040A>G (p.Asn347Ser) n.889A>G c.*1554T>C (n.*1554T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102832523T>G | CA377938679 | CYP17A1,WBP1L | c.1127A>C (p.Asn376Thr) c.824A>C (p.Asn275Thr) c.671A>C (p.Asn224Thr) c.1040A>C (p.Asn347Thr) n.889A>C c.*1554T>G (n.*1554T>G) | |
| 10 | g.102832523T= | CA1932870470 | CYP17A1,WBP1L | c.1127A= (p.Asn376=) c.824A= (p.Asn275=) c.671A= (p.Asn224=) c.1040A= (p.Asn347=) n.889A= c.*1554T= (n.*1554T=) | |
| 10 | g.102832524T>A | CA377938681 | CYP17A1,WBP1L | c.1126A>T (p.Asn376Tyr) c.823A>T (p.Asn275Tyr) c.670A>T (p.Asn224Tyr) c.1039A>T (p.Asn347Tyr) n.888A>T c.*1555T>A (n.*1555T>A) | |
| 10 | g.102832524T>C | CA377938682 | CYP17A1,WBP1L | c.1126A>G (p.Asn376Asp) c.823A>G (p.Asn275Asp) c.670A>G (p.Asn224Asp) c.1039A>G (p.Asn347Asp) n.888A>G c.*1555T>C (n.*1555T>C) | gnomAD v4 |
| 10 | g.102832524T>G | CA377938680 | CYP17A1,WBP1L | c.1126A>C (p.Asn376His) c.823A>C (p.Asn275His) c.670A>C (p.Asn224His) c.1039A>C (p.Asn347His) n.888A>C c.*1555T>G (n.*1555T>G) | |
| 10 | g.102832525G>A | CA471288332 | CYP17A1,WBP1L | c.1125C>T (p.Ala375=) c.822C>T (p.Ala274=) c.669C>T (p.Ala223=) c.1038C>T (p.Ala346=) n.887C>T c.*1556G>A (n.*1556G>A) | |
| 10 | g.102832525G>C | CA471288334 | CYP17A1,WBP1L | c.1125C>G (p.Ala375=) c.822C>G (p.Ala274=) c.669C>G (p.Ala223=) c.1038C>G (p.Ala346=) n.887C>G c.*1556G>C (n.*1556G>C) | |
| 10 | g.102832525G>T | CA471288330 | CYP17A1,WBP1L | c.1125C>A (p.Ala375=) c.822C>A (p.Ala274=) c.669C>A (p.Ala223=) c.1038C>A (p.Ala346=) n.887C>A c.*1556G>T (n.*1556G>T) | gnomAD v4 |
| 10 | g.102832526G>A | CA377938683 | CYP17A1,WBP1L | c.1124C>T (p.Ala375Val) c.821C>T (p.Ala274Val) c.668C>T (p.Ala223Val) c.1037C>T (p.Ala346Val) n.886C>T c.*1557G>A (n.*1557G>A) | |
| 10 | g.102832526G>C | CA377938685 | CYP17A1,WBP1L | c.1124C>G (p.Ala375Gly) c.821C>G (p.Ala274Gly) c.668C>G (p.Ala223Gly) c.1037C>G (p.Ala346Gly) n.886C>G c.*1557G>C (n.*1557G>C) | |
| 10 | g.102832526G>T | CA377938684 | CYP17A1,WBP1L | c.1124C>A (p.Ala375Asp) c.821C>A (p.Ala274Asp) c.668C>A (p.Ala223Asp) c.1037C>A (p.Ala346Asp) n.886C>A c.*1557G>T (n.*1557G>T) | gnomAD v4 |
| 10 | g.102832527C>A | CA377938686 | CYP17A1,WBP1L | c.1123G>T (p.Ala375Ser) c.820G>T (p.Ala274Ser) c.667G>T (p.Ala223Ser) c.1036G>T (p.Ala346Ser) n.885G>T c.*1558C>A (n.*1558C>A) | |
| 10 | g.102832527C= | CA1932870478 | CYP17A1,WBP1L | c.1123G= (p.Ala375=) c.820G= (p.Ala274=) c.667G= (p.Ala223=) c.1036G= (p.Ala346=) n.885G= c.*1558C= (n.*1558C=) | |
| 10 | g.102832527C>G | CA377938687 | CYP17A1,WBP1L | c.1123G>C (p.Ala375Pro) c.820G>C (p.Ala274Pro) c.667G>C (p.Ala223Pro) c.1036G>C (p.Ala346Pro) n.885G>C c.*1558C>G (n.*1558C>G) | |
| 10 | g.102832527C>T | CA377938688 | CYP17A1,WBP1L | c.1123G>A (p.Ala375Thr) c.820G>A (p.Ala274Thr) c.667G>A (p.Ala223Thr) c.1036G>A (p.Ala346Thr) n.885G>A c.*1558C>T (n.*1558C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.102832528del | CA2610723240 | CYP17A1,WBP1L | c.1123del (p.Ala375ProfsTer?) c.820del (p.Ala274ProfsTer?) c.667del (p.Ala223ProfsTer?) c.1036del (p.Ala346ProfsTer?) n.885del c.*1559del (n.*1559del) | gnomAD v4 |
| 10 | g.102832528C>A | CA377938689 | CYP17A1,WBP1L | c.1122G>T (p.Lys374Asn) c.819G>T (p.Lys273Asn) c.666G>T (p.Lys222Asn) c.1035G>T (p.Lys345Asn) n.884G>T c.*1559C>A (n.*1559C>A) | gnomAD v4 |
| 10 | g.102832528C= | CA1932870497 | CYP17A1,WBP1L | c.1122G= (p.Lys374=) c.819G= (p.Lys273=) c.666G= (p.Lys222=) c.1035G= (p.Lys345=) n.884G= c.*1559C= (n.*1559C=) | |
| 10 | g.102832528C>G | CA377938690 | CYP17A1,WBP1L | c.1122G>C (p.Lys374Asn) c.819G>C (p.Lys273Asn) c.666G>C (p.Lys222Asn) c.1035G>C (p.Lys345Asn) n.884G>C c.*1559C>G (n.*1559C>G) | |
| 10 | g.102832528C>T | CA471288342 | CYP17A1,WBP1L | c.1122G>A (p.Lys374=) c.819G>A (p.Lys273=) c.666G>A (p.Lys222=) c.1035G>A (p.Lys345=) n.884G>A c.*1559C>T (n.*1559C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.102832529T>A | CA377938691 | CYP17A1,WBP1L | c.1121A>T (p.Lys374Met) c.818A>T (p.Lys273Met) c.665A>T (p.Lys222Met) c.1034A>T (p.Lys345Met) n.883A>T c.*1560T>A (n.*1560T>A) | gnomAD v4 |
| 10 | g.102832529T>C | CA377938692 | CYP17A1,WBP1L | c.1121A>G (p.Lys374Arg) c.818A>G (p.Lys273Arg) c.665A>G (p.Lys222Arg) c.1034A>G (p.Lys345Arg) n.883A>G c.*1560T>C (n.*1560T>C) | |
| 10 | g.102832529T>G | CA377938693 | CYP17A1,WBP1L | c.1121A>C (p.Lys374Thr) c.818A>C (p.Lys273Thr) c.665A>C (p.Lys222Thr) c.1034A>C (p.Lys345Thr) n.883A>C c.*1560T>G (n.*1560T>G) | |
| 10 | g.102832530T>A | CA377938694 | CYP17A1,WBP1L | c.1120A>T (p.Lys374Ter) c.817A>T (p.Lys273Ter) c.664A>T (p.Lys222Ter) c.1033A>T (p.Lys345Ter) n.882A>T c.*1561T>A (n.*1561T>A) | |
| 10 | g.102832530T>C | CA377938695 | CYP17A1,WBP1L | c.1120A>G (p.Lys374Glu) c.817A>G (p.Lys273Glu) c.664A>G (p.Lys222Glu) c.1033A>G (p.Lys345Glu) n.882A>G c.*1561T>C (n.*1561T>C) | |
| 10 | g.102832530T>G | CA377938696 | CYP17A1,WBP1L | c.1120A>C (p.Lys374Gln) c.817A>C (p.Lys273Gln) c.664A>C (p.Lys222Gln) c.1033A>C (p.Lys345Gln) n.882A>C c.*1561T>G (n.*1561T>G) | gnomAD v4 |
| 10 | g.102832532_102832533del | CA2610723241 | CYP17A1,WBP1L | c.1119_1120del (p.His373GlnfsTer5) c.816_817del (p.His272GlnfsTer5) c.663_664del (p.His221GlnfsTer5) c.1032_1033del (p.His344GlnfsTer5) n.881_882del c.*1563_*1564del (n.*1563_*1564del) | gnomAD v4 |
| 10 | g.102832531G>A | CA5669400 | CYP17A1,WBP1L | c.1119C>T (p.His373=) c.816C>T (p.His272=) c.663C>T (p.His221=) c.1032C>T (p.His344=) n.881C>T c.*1562G>A (n.*1562G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.102832531G>C | CA377938697 | CYP17A1,WBP1L | c.1119C>G (p.His373Gln) c.816C>G (p.His272Gln) c.663C>G (p.His221Gln) c.1032C>G (p.His344Gln) n.881C>G c.*1562G>C (n.*1562G>C) | |
| 10 | g.102832531G= | CA1932870499 | CYP17A1,WBP1L | c.1119C= (p.His373=) c.816C= (p.His272=) c.663C= (p.His221=) c.1032C= (p.His344=) n.881C= c.*1562G= (n.*1562G=) | |
| 10 | g.102832531G>T | CA377938698 | CYP17A1,WBP1L | c.1119C>A (p.His373Gln) c.816C>A (p.His272Gln) c.663C>A (p.His221Gln) c.1032C>A (p.His344Gln) n.881C>A c.*1562G>T (n.*1562G>T) | gnomAD v4 |
| 10 | g.102832532T>A | CA5669401 | CYP17A1,WBP1L | c.1118A>T (p.His373Leu) c.815A>T (p.His272Leu) c.662A>T (p.His221Leu) c.1031A>T (p.His344Leu) n.880A>T c.*1563T>A (n.*1563T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.102832532T>C | CA377938699 | CYP17A1,WBP1L | c.1118A>G (p.His373Arg) c.815A>G (p.His272Arg) c.662A>G (p.His221Arg) c.1031A>G (p.His344Arg) n.880A>G c.*1563T>C (n.*1563T>C) | |
| 10 | g.102832532T>G | CA377938700 | CYP17A1,WBP1L | c.1118A>C (p.His373Pro) c.815A>C (p.His272Pro) c.662A>C (p.His221Pro) c.1031A>C (p.His344Pro) n.880A>C c.*1563T>G (n.*1563T>G) | |
| 10 | g.102832532T= | CA1932870504 | CYP17A1,WBP1L | c.1118A= (p.His373=) c.815A= (p.His272=) c.662A= (p.His221=) c.1031A= (p.His344=) n.880A= c.*1563T= (n.*1563T=) | |
| 10 | g.102832533G>A | CA377938701 | CYP17A1,WBP1L | c.1117C>T (p.His373Tyr) c.814C>T (p.His272Tyr) c.661C>T (p.His221Tyr) c.1030C>T (p.His344Tyr) n.879C>T c.*1564G>A (n.*1564G>A) | ClinVar dbSNP gnomAD v4 |
| 10 | g.102832533G>C | CA377938702 | CYP17A1,WBP1L | c.1117C>G (p.His373Asp) c.814C>G (p.His272Asp) c.661C>G (p.His221Asp) c.1030C>G (p.His344Asp) n.879C>G c.*1564G>C (n.*1564G>C) | ClinVar dbSNP gnomAD v4 |
| 10 | g.102832533G= | CA1932870514 | CYP17A1,WBP1L | c.1117C= (p.His373=) c.814C= (p.His272=) c.661C= (p.His221=) c.1030C= (p.His344=) n.879C= c.*1564G= (n.*1564G=) | |
| 10 | g.102832533G>T | CA377938703 | CYP17A1,WBP1L | c.1117C>A (p.His373Asn) c.814C>A (p.His272Asn) c.661C>A (p.His221Asn) c.1030C>A (p.His344Asn) n.879C>A c.*1564G>T (n.*1564G>T) | ClinVar dbSNP gnomAD v4 |
| 10 | g.102832537dup | CA5669402 | CYP17A1,WBP1L | c.1117dup (p.His373ProfsTer6) c.814dup (p.His272ProfsTer6) c.661dup (p.His221ProfsTer6) c.1030dup (p.His344ProfsTer6) n.879dup c.*1568dup (n.*1568dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.102832537del | CA2610723242 | CYP17A1,WBP1L | c.1117del (p.His373ThrfsTer?) c.814del (p.His272ThrfsTer?) c.661del (p.His221ThrfsTer?) c.1030del (p.His344ThrfsTer?) n.879del c.*1568del (n.*1568del) | gnomAD v4 |
| 10 | g.102832536_102832537del | CA2610723243 | CYP17A1,WBP1L | c.1116_1117del (p.His373GlnfsTer5) c.813_814del (p.His272GlnfsTer5) c.660_661del (p.His221GlnfsTer5) c.1029_1030del (p.His344GlnfsTer5) n.878_879del c.*1567_*1568del (n.*1567_*1568del) | gnomAD v4 |
| 10 | g.102832534G>A | CA471288363 | CYP17A1,WBP1L | c.1116C>T (p.Pro372=) c.813C>T (p.Pro271=) c.660C>T (p.Pro220=) c.1029C>T (p.Pro343=) n.878C>T c.*1565G>A (n.*1565G>A) | ClinVar dbSNP gnomAD v4 |
| 10 | g.102832534G>C | CA471288367 | CYP17A1,WBP1L | c.1116C>G (p.Pro372=) c.813C>G (p.Pro271=) c.660C>G (p.Pro220=) c.1029C>G (p.Pro343=) n.878C>G c.*1565G>C (n.*1565G>C) | |
| 10 | g.102832534G>T | CA471288370 | CYP17A1,WBP1L | c.1116C>A (p.Pro372=) c.813C>A (p.Pro271=) c.660C>A (p.Pro220=) c.1029C>A (p.Pro343=) n.878C>A c.*1565G>T (n.*1565G>T) | |
| 10 | g.102832535G>A | CA377938704 | CYP17A1,WBP1L | c.1115C>T (p.Pro372Leu) c.812C>T (p.Pro271Leu) c.659C>T (p.Pro220Leu) c.1028C>T (p.Pro343Leu) n.877C>T c.*1566G>A (n.*1566G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |