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.102832516G>A | CA5669397 | CYP17A1,WBP1L | c.1134C>T (p.Asp378=) c.831C>T (p.Asp277=) c.678C>T (p.Asp226=) c.1047C>T (p.Asp349=) n.896C>T c.*1547G>A (n.*1547G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.102832516G>C | CA377938663 | CYP17A1,WBP1L | c.1134C>G (p.Asp378Glu) c.831C>G (p.Asp277Glu) c.678C>G (p.Asp226Glu) c.1047C>G (p.Asp349Glu) n.896C>G c.*1547G>C (n.*1547G>C) | |
| 10 | g.102832516G= | CA1932870441 | CYP17A1,WBP1L | c.1134C= (p.Asp378=) c.831C= (p.Asp277=) c.678C= (p.Asp226=) c.1047C= (p.Asp349=) n.896C= c.*1547G= (n.*1547G=) | |
| 10 | g.102832516G>T | CA377938664 | CYP17A1,WBP1L | c.1134C>A (p.Asp378Glu) c.831C>A (p.Asp277Glu) c.678C>A (p.Asp226Glu) c.1047C>A (p.Asp349Glu) n.896C>A c.*1547G>T (n.*1547G>T) | gnomAD v4 |
| 10 | g.102832517T>A | CA377938665 | CYP17A1,WBP1L | c.1133A>T (p.Asp378Val) c.830A>T (p.Asp277Val) c.677A>T (p.Asp226Val) c.1046A>T (p.Asp349Val) n.895A>T c.*1548T>A (n.*1548T>A) | |
| 10 | g.102832517T>C | CA377938666 | CYP17A1,WBP1L | c.1133A>G (p.Asp378Gly) c.830A>G (p.Asp277Gly) c.677A>G (p.Asp226Gly) c.1046A>G (p.Asp349Gly) n.895A>G c.*1548T>C (n.*1548T>C) | gnomAD v4 |
| 10 | g.102832517T>G | CA377938667 | CYP17A1,WBP1L | c.1133A>C (p.Asp378Ala) c.830A>C (p.Asp277Ala) c.677A>C (p.Asp226Ala) c.1046A>C (p.Asp349Ala) n.895A>C c.*1548T>G (n.*1548T>G) | dbSNP gnomAD v4 |
| 10 | g.102832517T= | CA1932870448 | CYP17A1,WBP1L | c.1133A= (p.Asp378=) c.830A= (p.Asp277=) c.677A= (p.Asp226=) c.1046A= (p.Asp349=) n.895A= c.*1548T= (n.*1548T=) | |
| 10 | g.102832518C>A | CA377938668 | CYP17A1,WBP1L | c.1132G>T (p.Asp378Tyr) c.829G>T (p.Asp277Tyr) c.676G>T (p.Asp226Tyr) c.1045G>T (p.Asp349Tyr) n.894G>T c.*1549C>A (n.*1549C>A) | |
| 10 | g.102832518C>G | CA377938670 | CYP17A1,WBP1L | c.1132G>C (p.Asp378His) c.829G>C (p.Asp277His) c.676G>C (p.Asp226His) c.1045G>C (p.Asp349His) n.894G>C c.*1549C>G (n.*1549C>G) | |
| 10 | g.102832518C>T | CA377938669 | CYP17A1,WBP1L | c.1132G>A (p.Asp378Asn) c.829G>A (p.Asp277Asn) c.676G>A (p.Asp226Asn) c.1045G>A (p.Asp349Asn) n.894G>A c.*1549C>T (n.*1549C>T) | |
| 10 | g.102832519A>C | CA471288302 | CYP17A1,WBP1L | c.1131T>G (p.Val377=) c.828T>G (p.Val276=) c.675T>G (p.Val225=) c.1044T>G (p.Val348=) n.893T>G c.*1550A>C (n.*1550A>C) | |
| 10 | g.102832519A>G | CA471288305 | CYP17A1,WBP1L | c.1131T>C (p.Val377=) c.828T>C (p.Val276=) c.675T>C (p.Val225=) c.1044T>C (p.Val348=) n.893T>C c.*1550A>G (n.*1550A>G) | |
| 10 | g.102832519A>T | CA471288308 | CYP17A1,WBP1L | c.1131T>A (p.Val377=) c.828T>A (p.Val276=) c.675T>A (p.Val225=) c.1044T>A (p.Val348=) n.893T>A c.*1550A>T (n.*1550A>T) | |
| 10 | g.102832520A>C | CA377938671 | CYP17A1,WBP1L | c.1130T>G (p.Val377Gly) c.827T>G (p.Val276Gly) c.674T>G (p.Val225Gly) c.1043T>G (p.Val348Gly) n.892T>G c.*1551A>C (n.*1551A>C) | |
| 10 | g.102832520A>G | CA377938672 | CYP17A1,WBP1L | c.1130T>C (p.Val377Ala) c.827T>C (p.Val276Ala) c.674T>C (p.Val225Ala) c.1043T>C (p.Val348Ala) n.892T>C c.*1551A>G (n.*1551A>G) | |
| 10 | g.102832520A>T | CA377938673 | CYP17A1,WBP1L | c.1130T>A (p.Val377Asp) c.827T>A (p.Val276Asp) c.674T>A (p.Val225Asp) c.1043T>A (p.Val348Asp) n.892T>A c.*1551A>T (n.*1551A>T) | |
| 10 | g.102832521C>A | CA377938674 | CYP17A1,WBP1L | c.1129G>T (p.Val377Phe) c.826G>T (p.Val276Phe) c.673G>T (p.Val225Phe) c.1042G>T (p.Val348Phe) n.891G>T c.*1552C>A (n.*1552C>A) | |
| 10 | g.102832521C= | CA1932870455 | CYP17A1,WBP1L | c.1129G= (p.Val377=) c.826G= (p.Val276=) c.673G= (p.Val225=) c.1042G= (p.Val348=) n.891G= c.*1552C= (n.*1552C=) | |
| 10 | g.102832521C>G | CA377938675 | CYP17A1,WBP1L | c.1129G>C (p.Val377Leu) c.826G>C (p.Val276Leu) c.673G>C (p.Val225Leu) c.1042G>C (p.Val348Leu) n.891G>C c.*1552C>G (n.*1552C>G) | |
| 10 | g.102832521C>T | CA5669398 | CYP17A1,WBP1L | c.1129G>A (p.Val377Ile) c.826G>A (p.Val276Ile) c.673G>A (p.Val225Ile) c.1042G>A (p.Val348Ile) n.891G>A c.*1552C>T (n.*1552C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 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.102832522G>A | CA471288321 | CYP17A1,WBP1L | c.1128C>T (p.Asn376=) c.825C>T (p.Asn275=) c.672C>T (p.Asn224=) c.1041C>T (p.Asn347=) n.890C>T c.*1553G>A (n.*1553G>A) | ClinVar dbSNP gnomAD v4 |
| 10 | g.102832522G>C | CA377938676 | CYP17A1,WBP1L | c.1128C>G (p.Asn376Lys) c.825C>G (p.Asn275Lys) c.672C>G (p.Asn224Lys) c.1041C>G (p.Asn347Lys) n.890C>G c.*1553G>C (n.*1553G>C) | |
| 10 | g.102832522G= | CA1932870465 | CYP17A1,WBP1L | c.1128C= (p.Asn376=) c.825C= (p.Asn275=) c.672C= (p.Asn224=) c.1041C= (p.Asn347=) n.890C= c.*1553G= (n.*1553G=) | |
| 10 | g.102832522G>T | CA5669399 | CYP17A1,WBP1L | c.1128C>A (p.Asn376Lys) c.825C>A (p.Asn275Lys) c.672C>A (p.Asn224Lys) c.1041C>A (p.Asn347Lys) n.890C>A c.*1553G>T (n.*1553G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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 |