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.102830846C>A | CA377938096 | CYP17A1,WBP1L | c.1383G>T (p.Gln461His) c.1080G>T (p.Gln360His) c.927G>T (p.Gln309His) c.1296G>T (p.Gln432His) c.1386G>T (p.Gln462His) n.1145G>T c.*528C>A (n.*528C>A) | gnomAD v4 |
| 10 | g.102830846C>G | CA377938097 | CYP17A1,WBP1L | c.1383G>C (p.Gln461His) c.1080G>C (p.Gln360His) c.927G>C (p.Gln309His) c.1296G>C (p.Gln432His) c.1386G>C (p.Gln462His) n.1145G>C c.*528C>G (n.*528C>G) | |
| 10 | g.102830846C>T | CA471287153 | CYP17A1,WBP1L | c.1383G>A (p.Gln461=) c.1080G>A (p.Gln360=) c.927G>A (p.Gln309=) c.1296G>A (p.Gln432=) c.1386G>A (p.Gln462=) n.1145G>A c.*528C>T (n.*528C>T) | |
| 10 | g.102830847T>A | CA377938098 | CYP17A1,WBP1L | c.1382A>T (p.Gln461Leu) c.1079A>T (p.Gln360Leu) c.926A>T (p.Gln309Leu) c.1295A>T (p.Gln432Leu) c.1385A>T (p.Gln462Leu) n.1144A>T c.*529T>A (n.*529T>A) | |
| 10 | g.102830847T>C | CA377938099 | CYP17A1,WBP1L | c.1382A>G (p.Gln461Arg) c.1079A>G (p.Gln360Arg) c.926A>G (p.Gln309Arg) c.1295A>G (p.Gln432Arg) c.1385A>G (p.Gln462Arg) n.1144A>G c.*529T>C (n.*529T>C) | gnomAD v4 |
| 10 | g.102830847T>G | CA377938100 | CYP17A1,WBP1L | c.1382A>C (p.Gln461Pro) c.1079A>C (p.Gln360Pro) c.926A>C (p.Gln309Pro) c.1295A>C (p.Gln432Pro) c.1385A>C (p.Gln462Pro) n.1144A>C c.*529T>G (n.*529T>G) | |
| 10 | g.102830848G>A | CA377938101 | CYP17A1,WBP1L | c.1381C>T (p.Gln461Ter) c.1078C>T (p.Gln360Ter) c.925C>T (p.Gln309Ter) c.1294C>T (p.Gln432Ter) c.1384C>T (p.Gln462Ter) n.1143C>T c.*530G>A (n.*530G>A) | ClinVar gnomAD v4 |
| 10 | g.102830848G>C | CA377938102 | CYP17A1,WBP1L | c.1381C>G (p.Gln461Glu) c.1078C>G (p.Gln360Glu) c.925C>G (p.Gln309Glu) c.1294C>G (p.Gln432Glu) c.1384C>G (p.Gln462Glu) n.1143C>G c.*530G>C (n.*530G>C) | |
| 10 | g.102830848G>T | CA377938103 | CYP17A1,WBP1L | c.1381C>A (p.Gln461Lys) c.1078C>A (p.Gln360Lys) c.925C>A (p.Gln309Lys) c.1294C>A (p.Gln432Lys) c.1384C>A (p.Gln462Lys) n.1143C>A c.*530G>T (n.*530G>T) | gnomAD v4 |
| 10 | g.102830853_102830855del | CA2574654671 | CYP17A1,WBP1L | c.1379_1381del (p.Leu460del) c.1076_1078del (p.Leu359del) c.923_925del (p.Leu308del) c.1292_1294del (p.Leu431del) c.1382_1384del (p.Leu461del) n.1141_1143del c.*535_*537del (n.*535_*537del) | |
| 10 | g.102830849C>A | CA471287155 | CYP17A1,WBP1L | c.1380G>T (p.Leu460=) c.1077G>T (p.Leu359=) c.924G>T (p.Leu308=) c.1293G>T (p.Leu431=) c.1383G>T (p.Leu461=) n.1142G>T c.*531C>A (n.*531C>A) | |
| 10 | g.102830849C>G | CA471287156 | CYP17A1,WBP1L | c.1380G>C (p.Leu460=) c.1077G>C (p.Leu359=) c.924G>C (p.Leu308=) c.1293G>C (p.Leu431=) c.1383G>C (p.Leu461=) n.1142G>C c.*531C>G (n.*531C>G) | |
| 10 | g.102830849C>T | CA471287157 | CYP17A1,WBP1L | c.1380G>A (p.Leu460=) c.1077G>A (p.Leu359=) c.924G>A (p.Leu308=) c.1293G>A (p.Leu431=) c.1383G>A (p.Leu461=) n.1142G>A c.*531C>T (n.*531C>T) | gnomAD v4 |
| 10 | g.102830850A>C | CA377938104 | CYP17A1,WBP1L | c.1379T>G (p.Leu460Arg) c.1076T>G (p.Leu359Arg) c.923T>G (p.Leu308Arg) c.1292T>G (p.Leu431Arg) c.1382T>G (p.Leu461Arg) n.1141T>G c.*532A>C (n.*532A>C) | |
| 10 | g.102830850A>G | CA377938105 | CYP17A1,WBP1L | c.1379T>C (p.Leu460Pro) c.1076T>C (p.Leu359Pro) c.923T>C (p.Leu308Pro) c.1292T>C (p.Leu431Pro) c.1382T>C (p.Leu461Pro) n.1141T>C c.*532A>G (n.*532A>G) | |
| 10 | g.102830850A>T | CA377938106 | CYP17A1,WBP1L | c.1379T>A (p.Leu460Gln) c.1076T>A (p.Leu359Gln) c.923T>A (p.Leu308Gln) c.1292T>A (p.Leu431Gln) c.1382T>A (p.Leu461Gln) n.1141T>A c.*532A>T (n.*532A>T) | |
| 10 | g.102830851G>A | CA5669331 | CYP17A1,WBP1L | c.1378C>T (p.Leu460=) c.1075C>T (p.Leu359=) c.922C>T (p.Leu308=) c.1291C>T (p.Leu431=) c.1381C>T (p.Leu461=) n.1140C>T c.*533G>A (n.*533G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.102830851G>C | CA377938108 | CYP17A1,WBP1L | c.1378C>G (p.Leu460Val) c.1075C>G (p.Leu359Val) c.922C>G (p.Leu308Val) c.1291C>G (p.Leu431Val) c.1381C>G (p.Leu461Val) n.1140C>G c.*533G>C (n.*533G>C) | |
| 10 | g.102830851G= | CA1932866888 | CYP17A1,WBP1L | c.1378C= (p.Leu460=) c.1075C= (p.Leu359=) c.922C= (p.Leu308=) c.1291C= (p.Leu431=) c.1381C= (p.Leu461=) n.1140C= c.*533G= (n.*533G=) | |
| 10 | g.102830851G>T | CA377938107 | CYP17A1,WBP1L | c.1378C>A (p.Leu460Met) c.1075C>A (p.Leu359Met) c.922C>A (p.Leu308Met) c.1291C>A (p.Leu431Met) c.1381C>A (p.Leu461Met) n.1140C>A c.*533G>T (n.*533G>T) | gnomAD v4 |
| 10 | g.102830852C>A | CA471287163 | CYP17A1,WBP1L | c.1377G>T (p.Leu459=) c.1074G>T (p.Leu358=) c.921G>T (p.Leu307=) c.1290G>T (p.Leu430=) c.1380G>T (p.Leu460=) n.1139G>T c.*534C>A (n.*534C>A) | gnomAD v4 |
| 10 | g.102830852C= | CA1932866900 | CYP17A1,WBP1L | c.1377G= (p.Leu459=) c.1074G= (p.Leu358=) c.921G= (p.Leu307=) c.1290G= (p.Leu430=) c.1380G= (p.Leu460=) n.1139G= c.*534C= (n.*534C=) | |
| 10 | g.102830852C>G | CA471287161 | CYP17A1,WBP1L | c.1377G>C (p.Leu459=) c.1074G>C (p.Leu358=) c.921G>C (p.Leu307=) c.1290G>C (p.Leu430=) c.1380G>C (p.Leu460=) n.1139G>C c.*534C>G (n.*534C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.102830852C>T | CA471287160 | CYP17A1,WBP1L | c.1377G>A (p.Leu459=) c.1074G>A (p.Leu358=) c.921G>A (p.Leu307=) c.1290G>A (p.Leu430=) c.1380G>A (p.Leu460=) n.1139G>A c.*534C>T (n.*534C>T) | gnomAD v4 |
| 10 | g.102830853A>C | CA377938109 | CYP17A1,WBP1L | c.1376T>G (p.Leu459Arg) c.1073T>G (p.Leu358Arg) c.920T>G (p.Leu307Arg) c.1289T>G (p.Leu430Arg) c.1379T>G (p.Leu460Arg) n.1138T>G c.*535A>C (n.*535A>C) | |
| 10 | g.102830853A>G | CA377938110 | CYP17A1,WBP1L | c.1376T>C (p.Leu459Pro) c.1073T>C (p.Leu358Pro) c.920T>C (p.Leu307Pro) c.1289T>C (p.Leu430Pro) c.1379T>C (p.Leu460Pro) n.1138T>C c.*535A>G (n.*535A>G) | |
| 10 | g.102830853A>T | CA377938111 | CYP17A1,WBP1L | c.1376T>A (p.Leu459Gln) c.1073T>A (p.Leu358Gln) c.920T>A (p.Leu307Gln) c.1289T>A (p.Leu430Gln) c.1379T>A (p.Leu460Gln) n.1138T>A c.*535A>T (n.*535A>T) | |
| 10 | g.102830854G>A | CA471287164 | CYP17A1,WBP1L | c.1375C>T (p.Leu459=) c.1072C>T (p.Leu358=) c.919C>T (p.Leu307=) c.1288C>T (p.Leu430=) c.1378C>T (p.Leu460=) n.1137C>T c.*536G>A (n.*536G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.102830854G>C | CA377938112 | CYP17A1,WBP1L | c.1375C>G (p.Leu459Val) c.1072C>G (p.Leu358Val) c.919C>G (p.Leu307Val) c.1288C>G (p.Leu430Val) c.1378C>G (p.Leu460Val) n.1137C>G c.*536G>C (n.*536G>C) | |
| 10 | g.102830854G= | CA1932866911 | CYP17A1,WBP1L | c.1375C= (p.Leu459=) c.1072C= (p.Leu358=) c.919C= (p.Leu307=) c.1288C= (p.Leu430=) c.1378C= (p.Leu460=) n.1137C= c.*536G= (n.*536G=) | |
| 10 | g.102830854G>T | CA377938113 | CYP17A1,WBP1L | c.1375C>A (p.Leu459Met) c.1072C>A (p.Leu358Met) c.919C>A (p.Leu307Met) c.1288C>A (p.Leu430Met) c.1378C>A (p.Leu460Met) n.1137C>A c.*536G>T (n.*536G>T) | gnomAD v4 COSMIC |
| 10 | g.102830855C>A | CA377938114 | CYP17A1,WBP1L | c.1374G>T (p.Trp458Cys) c.1071G>T (p.Trp357Cys) c.918G>T (p.Trp306Cys) c.1287G>T (p.Trp429Cys) c.1377G>T (p.Trp459Cys) n.1136G>T c.*537C>A (n.*537C>A) | gnomAD v4 |
| 10 | g.102830855C>G | CA377938115 | CYP17A1,WBP1L | c.1374G>C (p.Trp458Cys) c.1071G>C (p.Trp357Cys) c.918G>C (p.Trp306Cys) c.1287G>C (p.Trp429Cys) c.1377G>C (p.Trp459Cys) n.1136G>C c.*537C>G (n.*537C>G) | |
| 10 | g.102830855C>T | CA377938116 | CYP17A1,WBP1L | c.1374G>A (p.Trp458Ter) c.1071G>A (p.Trp357Ter) c.918G>A (p.Trp306Ter) c.1287G>A (p.Trp429Ter) c.1377G>A (p.Trp459Ter) n.1136G>A c.*537C>T (n.*537C>T) | gnomAD v4 |
| 10 | g.102830856C>A | CA377938117 | CYP17A1,WBP1L | c.1373G>T (p.Trp458Leu) c.1070G>T (p.Trp357Leu) c.917G>T (p.Trp306Leu) c.1286G>T (p.Trp429Leu) c.1376G>T (p.Trp459Leu) n.1135G>T c.*538C>A (n.*538C>A) | gnomAD v4 |
| 10 | g.102830856C>G | CA377938118 | CYP17A1,WBP1L | c.1373G>C (p.Trp458Ser) c.1070G>C (p.Trp357Ser) c.917G>C (p.Trp306Ser) c.1286G>C (p.Trp429Ser) c.1376G>C (p.Trp459Ser) n.1135G>C c.*538C>G (n.*538C>G) | |
| 10 | g.102830856C>T | CA377938119 | CYP17A1,WBP1L | c.1373G>A (p.Trp458Ter) c.1070G>A (p.Trp357Ter) c.917G>A (p.Trp306Ter) c.1286G>A (p.Trp429Ter) c.1376G>A (p.Trp459Ter) n.1135G>A c.*538C>T (n.*538C>T) | gnomAD v4 |
| 10 | g.102830857A>C | CA377938120 | CYP17A1,WBP1L | c.1372T>G (p.Trp458Gly) c.1069T>G (p.Trp357Gly) c.916T>G (p.Trp306Gly) c.1285T>G (p.Trp429Gly) c.1375T>G (p.Trp459Gly) n.1134T>G c.*539A>C (n.*539A>C) | |
| 10 | g.102830857A>G | CA377938121 | CYP17A1,WBP1L | c.1372T>C (p.Trp458Arg) c.1069T>C (p.Trp357Arg) c.916T>C (p.Trp306Arg) c.1285T>C (p.Trp429Arg) c.1375T>C (p.Trp459Arg) n.1134T>C c.*539A>G (n.*539A>G) | |
| 10 | g.102830857A>T | CA377938122 | CYP17A1,WBP1L | c.1372T>A (p.Trp458Arg) c.1069T>A (p.Trp357Arg) c.916T>A (p.Trp306Arg) c.1285T>A (p.Trp429Arg) c.1375T>A (p.Trp459Arg) n.1134T>A c.*539A>T (n.*539A>T) | |
| 10 | g.102830857_102830858delinsAG | CA1932866918 | CYP17A1,WBP1L | c.1371_1372delinsCT (p.Ala457=) c.1068_1069delinsCT (p.Ala356=) c.915_916delinsCT (p.Ala305=) c.1284_1285delinsCT (p.Ala428=) c.1374_1375delinsCT (p.Ala458=) n.1133_1134delinsCT c.*539_*540delinsAG (n.*539_*540delinsAG) | |
| 10 | g.102830858G>A | CA471287169 | CYP17A1,WBP1L | c.1371C>T (p.Ala457=) c.1068C>T (p.Ala356=) c.915C>T (p.Ala305=) c.1284C>T (p.Ala428=) c.1374C>T (p.Ala458=) n.1133C>T c.*540G>A (n.*540G>A) | dbSNP gnomAD v2 |
| 10 | g.102830858G>C | CA471287170 | CYP17A1,WBP1L | c.1371C>G (p.Ala457=) c.1068C>G (p.Ala356=) c.915C>G (p.Ala305=) c.1284C>G (p.Ala428=) c.1374C>G (p.Ala458=) n.1133C>G c.*540G>C (n.*540G>C) | |
| 10 | g.102830858G= | CA1932866922 | CYP17A1,WBP1L | c.1371C= (p.Ala457=) c.1068C= (p.Ala356=) c.915C= (p.Ala305=) c.1284C= (p.Ala428=) c.1374C= (p.Ala458=) n.1133C= c.*540G= (n.*540G=) | |
| 10 | g.102830858G>T | CA471287171 | CYP17A1,WBP1L | c.1371C>A (p.Ala457=) c.1068C>A (p.Ala356=) c.915C>A (p.Ala305=) c.1284C>A (p.Ala428=) c.1374C>A (p.Ala458=) n.1133C>A c.*540G>T (n.*540G>T) | gnomAD v4 |
| 10 | g.102830859del | CA5669332 | CYP17A1,WBP1L | c.1371del (p.Trp458GlyfsTer28) c.1068del (p.Trp357GlyfsTer28) c.915del (p.Trp306GlyfsTer28) c.1284del (p.Trp429GlyfsTer28) c.1374del (p.Trp459GlyfsTer28) n.1133del c.*541del (n.*541del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.102830859G>A | CA377938123 | CYP17A1,WBP1L | c.1370C>T (p.Ala457Val) c.1067C>T (p.Ala356Val) c.914C>T (p.Ala305Val) c.1283C>T (p.Ala428Val) c.1373C>T (p.Ala458Val) n.1132C>T c.*541G>A (n.*541G>A) | gnomAD v4 |
| 10 | g.102830859G>C | CA377938124 | CYP17A1,WBP1L | c.1370C>G (p.Ala457Gly) c.1067C>G (p.Ala356Gly) c.914C>G (p.Ala305Gly) c.1283C>G (p.Ala428Gly) c.1373C>G (p.Ala458Gly) n.1132C>G c.*541G>C (n.*541G>C) | |
| 10 | g.102830859G>T | CA377938125 | CYP17A1,WBP1L | c.1370C>A (p.Ala457Asp) c.1067C>A (p.Ala356Asp) c.914C>A (p.Ala305Asp) c.1283C>A (p.Ala428Asp) c.1373C>A (p.Ala458Asp) n.1132C>A c.*541G>T (n.*541G>T) | gnomAD v4 |
| 10 | g.102830860C>A | CA377938126 | CYP17A1,WBP1L | c.1369G>T (p.Ala457Ser) c.1066G>T (p.Ala356Ser) c.913G>T (p.Ala305Ser) c.1282G>T (p.Ala428Ser) c.1372G>T (p.Ala458Ser) n.1131G>T c.*542C>A (n.*542C>A) | gnomAD v4 |