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.102832538del | CA2610723244 | CYP17A1,WBP1L | c.1112del (p.Ile371ThrfsTer?) c.809del (p.Ile270ThrfsTer?) c.656del (p.Ile219ThrfsTer?) c.1025del (p.Ile342ThrfsTer?) n.874del c.*1569del (n.*1569del) | gnomAD v4 |
| 10 | g.102832538A= | CA1932870541 | CYP17A1,WBP1L | c.1112T= (p.Ile371=) c.809T= (p.Ile270=) c.656T= (p.Ile219=) c.1025T= (p.Ile342=) n.874T= c.*1569A= (n.*1569A=) | |
| 10 | g.102832538A>C | CA377938711 | CYP17A1,WBP1L | c.1112T>G (p.Ile371Ser) c.809T>G (p.Ile270Ser) c.656T>G (p.Ile219Ser) c.1025T>G (p.Ile342Ser) n.874T>G c.*1569A>C (n.*1569A>C) | |
| 10 | g.102832538A>G | CA5669403 | CYP17A1,WBP1L | c.1112T>C (p.Ile371Thr) c.809T>C (p.Ile270Thr) c.656T>C (p.Ile219Thr) c.1025T>C (p.Ile342Thr) n.874T>C c.*1569A>G (n.*1569A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.102832538A>T | CA377938712 | CYP17A1,WBP1L | c.1112T>A (p.Ile371Asn) c.809T>A (p.Ile270Asn) c.656T>A (p.Ile219Asn) c.1025T>A (p.Ile342Asn) n.874T>A c.*1569A>T (n.*1569A>T) | |
| 10 | g.102832539T>A | CA377938713 | CYP17A1,WBP1L | c.1111A>T (p.Ile371Phe) c.808A>T (p.Ile270Phe) c.655A>T (p.Ile219Phe) c.1024A>T (p.Ile342Phe) n.873A>T c.*1570T>A (n.*1570T>A) | |
| 10 | g.102832539T>C | CA377938714 | CYP17A1,WBP1L | c.1111A>G (p.Ile371Val) c.808A>G (p.Ile270Val) c.655A>G (p.Ile219Val) c.1024A>G (p.Ile342Val) n.873A>G c.*1570T>C (n.*1570T>C) | |
| 10 | g.102832539T>G | CA377938715 | CYP17A1,WBP1L | c.1111A>C (p.Ile371Leu) c.808A>C (p.Ile270Leu) c.655A>C (p.Ile219Leu) c.1024A>C (p.Ile342Leu) n.873A>C c.*1570T>G (n.*1570T>G) | |
| 10 | g.102832540G>A | CA471288391 | CYP17A1,WBP1L | c.1110C>T (p.Leu370=) c.807C>T (p.Leu269=) c.654C>T (p.Leu218=) c.1023C>T (p.Leu341=) n.872C>T c.*1571G>A (n.*1571G>A) | |
| 10 | g.102832540G>C | CA471288392 | CYP17A1,WBP1L | c.1110C>G (p.Leu370=) c.807C>G (p.Leu269=) c.654C>G (p.Leu218=) c.1023C>G (p.Leu341=) n.872C>G c.*1571G>C (n.*1571G>C) | |
| 10 | g.102832540G>T | CA471288394 | CYP17A1,WBP1L | c.1110C>A (p.Leu370=) c.807C>A (p.Leu269=) c.654C>A (p.Leu218=) c.1023C>A (p.Leu341=) n.872C>A c.*1571G>T (n.*1571G>T) | |
| 10 | g.102832541A>C | CA377938716 | CYP17A1,WBP1L | c.1109T>G (p.Leu370Arg) c.806T>G (p.Leu269Arg) c.653T>G (p.Leu218Arg) c.1022T>G (p.Leu341Arg) n.871T>G c.*1572A>C (n.*1572A>C) | |
| 10 | g.102832541A>G | CA377938717 | CYP17A1,WBP1L | c.1109T>C (p.Leu370Pro) c.806T>C (p.Leu269Pro) c.653T>C (p.Leu218Pro) c.1022T>C (p.Leu341Pro) n.871T>C c.*1572A>G (n.*1572A>G) | |
| 10 | g.102832541A>T | CA377938718 | CYP17A1,WBP1L | c.1109T>A (p.Leu370His) c.806T>A (p.Leu269His) c.653T>A (p.Leu218His) c.1022T>A (p.Leu341His) n.871T>A c.*1572A>T (n.*1572A>T) | |
| 10 | g.102832542G>A | CA377938719 | CYP17A1,WBP1L | c.1108C>T (p.Leu370Phe) c.805C>T (p.Leu269Phe) c.652C>T (p.Leu218Phe) c.1021C>T (p.Leu341Phe) n.870C>T c.*1573G>A (n.*1573G>A) | |
| 10 | g.102832542G>C | CA377938720 | CYP17A1,WBP1L | c.1108C>G (p.Leu370Val) c.805C>G (p.Leu269Val) c.652C>G (p.Leu218Val) c.1021C>G (p.Leu341Val) n.870C>G c.*1573G>C (n.*1573G>C) | |
| 10 | g.102832542G>T | CA377938721 | CYP17A1,WBP1L | c.1108C>A (p.Leu370Ile) c.805C>A (p.Leu269Ile) c.652C>A (p.Leu218Ile) c.1021C>A (p.Leu341Ile) n.870C>A c.*1573G>T (n.*1573G>T) | |
| 10 | g.102832543C>A | CA377938724 | CYP17A1,WBP1L | c.1107G>T (p.Met369Ile) c.804G>T (p.Met268Ile) c.651G>T (p.Met217Ile) c.1020G>T (p.Met340Ile) n.869G>T c.*1574C>A (n.*1574C>A) | |
| 10 | g.102832543C>G | CA377938723 | CYP17A1,WBP1L | c.1107G>C (p.Met369Ile) c.804G>C (p.Met268Ile) c.651G>C (p.Met217Ile) c.1020G>C (p.Met340Ile) n.869G>C c.*1574C>G (n.*1574C>G) | |
| 10 | g.102832543C>T | CA377938722 | CYP17A1,WBP1L | c.1107G>A (p.Met369Ile) c.804G>A (p.Met268Ile) c.651G>A (p.Met217Ile) c.1020G>A (p.Met340Ile) n.869G>A c.*1574C>T (n.*1574C>T) | |
| 10 | g.102832544A= | CA1932870546 | CYP17A1,WBP1L | c.1106T= (p.Met369=) c.803T= (p.Met268=) c.650T= (p.Met217=) c.1019T= (p.Met340=) n.868T= c.*1575A= (n.*1575A=) | |
| 10 | g.102832544A>C | CA377938725 | CYP17A1,WBP1L | c.1106T>G (p.Met369Arg) c.803T>G (p.Met268Arg) c.650T>G (p.Met217Arg) c.1019T>G (p.Met340Arg) n.868T>G c.*1575A>C (n.*1575A>C) | |
| 10 | g.102832544A>G | CA377938726 | CYP17A1,WBP1L | c.1106T>C (p.Met369Thr) c.803T>C (p.Met268Thr) c.650T>C (p.Met217Thr) c.1019T>C (p.Met340Thr) n.868T>C c.*1575A>G (n.*1575A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.102832544A>T | CA377938727 | CYP17A1,WBP1L | c.1106T>A (p.Met369Lys) c.803T>A (p.Met268Lys) c.650T>A (p.Met217Lys) c.1019T>A (p.Met340Lys) n.868T>A c.*1575A>T (n.*1575A>T) | |
| 10 | g.102832545T>A | CA377938728 | CYP17A1,WBP1L | c.1105A>T (p.Met369Leu) c.802A>T (p.Met268Leu) c.649A>T (p.Met217Leu) c.1018A>T (p.Met340Leu) n.867A>T c.*1576T>A (n.*1576T>A) | |
| 10 | g.102832545T>C | CA377938729 | CYP17A1,WBP1L | c.1105A>G (p.Met369Val) c.802A>G (p.Met268Val) c.649A>G (p.Met217Val) c.1018A>G (p.Met340Val) n.867A>G c.*1576T>C (n.*1576T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.102832545T>G | CA377938730 | CYP17A1,WBP1L | c.1105A>C (p.Met369Leu) c.802A>C (p.Met268Leu) c.649A>C (p.Met217Leu) c.1018A>C (p.Met340Leu) n.867A>C c.*1576T>G (n.*1576T>G) | |
| 10 | g.102832545T= | CA1932870550 | CYP17A1,WBP1L | c.1105A= (p.Met369=) c.802A= (p.Met268=) c.649A= (p.Met217=) c.1018A= (p.Met340=) n.867A= c.*1576T= (n.*1576T=) | |
| 10 | g.102832546del | CA2610723245 | CYP17A1,WBP1L | c.1104del (p.Met369CysfsTer?) c.801del (p.Met268CysfsTer?) c.648del (p.Met217CysfsTer?) c.1017del (p.Met340CysfsTer?) n.866del c.*1577del (n.*1577del) | gnomAD v4 |
| 10 | g.102832546A>C | CA471288415 | CYP17A1,WBP1L | c.1104T>G (p.Pro368=) c.801T>G (p.Pro267=) c.648T>G (p.Pro216=) c.1017T>G (p.Pro339=) n.866T>G c.*1577A>C (n.*1577A>C) | |
| 10 | g.102832546A>G | CA471288413 | CYP17A1,WBP1L | c.1104T>C (p.Pro368=) c.801T>C (p.Pro267=) c.648T>C (p.Pro216=) c.1017T>C (p.Pro339=) n.866T>C c.*1577A>G (n.*1577A>G) | |
| 10 | g.102832546A>T | CA471288411 | CYP17A1,WBP1L | c.1104T>A (p.Pro368=) c.801T>A (p.Pro267=) c.648T>A (p.Pro216=) c.1017T>A (p.Pro339=) n.866T>A c.*1577A>T (n.*1577A>T) | |
| 10 | g.102832547G>A | CA377938731 | CYP17A1,WBP1L | c.1103C>T (p.Pro368Leu) c.800C>T (p.Pro267Leu) c.647C>T (p.Pro216Leu) c.1016C>T (p.Pro339Leu) n.865C>T c.*1578G>A (n.*1578G>A) | |
| 10 | g.102832547G>C | CA377938732 | CYP17A1,WBP1L | c.1103C>G (p.Pro368Arg) c.800C>G (p.Pro267Arg) c.647C>G (p.Pro216Arg) c.1016C>G (p.Pro339Arg) n.865C>G c.*1578G>C (n.*1578G>C) | |
| 10 | g.102832547G>T | CA377938733 | CYP17A1,WBP1L | c.1103C>A (p.Pro368His) c.800C>A (p.Pro267His) c.647C>A (p.Pro216His) c.1016C>A (p.Pro339His) n.865C>A c.*1578G>T (n.*1578G>T) | |
| 10 | g.102832548G>A | CA377938734 | CYP17A1,WBP1L | c.1102C>T (p.Pro368Ser) c.799C>T (p.Pro267Ser) c.646C>T (p.Pro216Ser) c.1015C>T (p.Pro339Ser) n.864C>T c.*1579G>A (n.*1579G>A) | |
| 10 | g.102832548G>C | CA377938735 | CYP17A1,WBP1L | c.1102C>G (p.Pro368Ala) c.799C>G (p.Pro267Ala) c.646C>G (p.Pro216Ala) c.1015C>G (p.Pro339Ala) n.864C>G c.*1579G>C (n.*1579G>C) | |
| 10 | g.102832548G>T | CA377938736 | CYP17A1,WBP1L | c.1102C>A (p.Pro368Thr) c.799C>A (p.Pro267Thr) c.646C>A (p.Pro216Thr) c.1015C>A (p.Pro339Thr) n.864C>A c.*1579G>T (n.*1579G>T) | |
| 10 | g.102832549G>A | CA471288427 | CYP17A1,WBP1L | c.1101C>T (p.Ala367=) c.798C>T (p.Ala266=) c.645C>T (p.Ala215=) c.1014C>T (p.Ala338=) n.863C>T c.*1580G>A (n.*1580G>A) | |
| 10 | g.102832549G>C | CA471288429 | CYP17A1,WBP1L | c.1101C>G (p.Ala367=) c.798C>G (p.Ala266=) c.645C>G (p.Ala215=) c.1014C>G (p.Ala338=) n.863C>G c.*1580G>C (n.*1580G>C) | |
| 10 | g.102832549G>T | CA471288431 | CYP17A1,WBP1L | c.1101C>A (p.Ala367=) c.798C>A (p.Ala266=) c.645C>A (p.Ala215=) c.1014C>A (p.Ala338=) n.863C>A c.*1580G>T (n.*1580G>T) | |
| 10 | g.102832550G>A | CA5669404 | CYP17A1,WBP1L | c.1100C>T (p.Ala367Val) c.797C>T (p.Ala266Val) c.644C>T (p.Ala215Val) c.1013C>T (p.Ala338Val) n.862C>T c.*1581G>A (n.*1581G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.102832550G>C | CA377938738 | CYP17A1,WBP1L | c.1100C>G (p.Ala367Gly) c.797C>G (p.Ala266Gly) c.644C>G (p.Ala215Gly) c.1013C>G (p.Ala338Gly) n.862C>G c.*1581G>C (n.*1581G>C) | |
| 10 | g.102832550G= | CA1932870556 | CYP17A1,WBP1L | c.1100C= (p.Ala367=) c.797C= (p.Ala266=) c.644C= (p.Ala215=) c.1013C= (p.Ala338=) n.862C= c.*1581G= (n.*1581G=) | |
| 10 | g.102832550G>T | CA377938737 | CYP17A1,WBP1L | c.1100C>A (p.Ala367Asp) c.797C>A (p.Ala266Asp) c.644C>A (p.Ala215Asp) c.1013C>A (p.Ala338Asp) n.862C>A c.*1581G>T (n.*1581G>T) | gnomAD v4 |
| 10 | g.102832551C>A | CA377938739 | CYP17A1,WBP1L | c.1099G>T (p.Ala367Ser) c.796G>T (p.Ala266Ser) c.643G>T (p.Ala215Ser) c.1012G>T (p.Ala338Ser) n.861G>T c.*1582C>A (n.*1582C>A) | |
| 10 | g.102832551C>G | CA377938741 | CYP17A1,WBP1L | c.1099G>C (p.Ala367Pro) c.796G>C (p.Ala266Pro) c.643G>C (p.Ala215Pro) c.1012G>C (p.Ala338Pro) n.861G>C c.*1582C>G (n.*1582C>G) | |
| 10 | g.102832551C>T | CA377938740 | CYP17A1,WBP1L | c.1099G>A (p.Ala367Thr) c.796G>A (p.Ala266Thr) c.643G>A (p.Ala215Thr) c.1012G>A (p.Ala338Thr) n.861G>A c.*1582C>T (n.*1582C>T) | |
| 10 | g.102832552C>A | CA471288450 | CYP17A1,WBP1L | c.1098G>T (p.Val366=) c.795G>T (p.Val265=) c.642G>T (p.Val214=) c.1011G>T (p.Val337=) n.860G>T c.*1583C>A (n.*1583C>A) | |
| 10 | g.102832552C>G | CA471288453 | CYP17A1,WBP1L | c.1098G>C (p.Val366=) c.795G>C (p.Val265=) c.642G>C (p.Val214=) c.1011G>C (p.Val337=) n.860G>C c.*1583C>G (n.*1583C>G) |