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 |
|---|---|---|---|---|---|
| 9 | g.95101723A= | CA1865459507 | AOPEP,FANCC | n.410+20943A= n.2476T= c.1661T= (p.Leu554=) c.1806T= (n.1806T=) c.980T= (p.Leu327=) c.1496T= (p.Leu499=) c.1205T= (p.Leu402=) c.2319+20943A= (n.2319+20943A=) c.1040T= (p.Leu347=) | |
| 9 | g.95101723A>C | CA374104245 | AOPEP,FANCC | n.410+20943A>C n.2476T>G c.1661T>G (p.Leu554Arg) c.1806T>G (n.1806T>G) c.980T>G (p.Leu327Arg) c.1496T>G (p.Leu499Arg) c.1205T>G (p.Leu402Arg) c.2319+20943A>C (n.2319+20943A>C) c.1040T>G (p.Leu347Arg) | gnomAD v4 |
| 9 | g.95101723A>G | CA284829 | AOPEP,FANCC | n.410+20943A>G n.2476T>C c.1661T>C (p.Leu554Pro) c.1806T>C (n.1806T>C) c.980T>C (p.Leu327Pro) c.1496T>C (p.Leu499Pro) c.1205T>C (p.Leu402Pro) c.2319+20943A>G (n.2319+20943A>G) c.1040T>C (p.Leu347Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95101723A>T | CA374104246 | AOPEP,FANCC | n.410+20943A>T n.2476T>A c.1661T>A (p.Leu554Gln) c.1806T>A (n.1806T>A) c.980T>A (p.Leu327Gln) c.1496T>A (p.Leu499Gln) c.1205T>A (p.Leu402Gln) c.2319+20943A>T (n.2319+20943A>T) c.1040T>A (p.Leu347Gln) | |
| 9 | g.95101724G>A | CA5137289 | AOPEP,FANCC | n.410+20944G>A n.2475C>T c.1660C>T (p.Leu554=) c.1805C>T (n.1805C>T) c.979C>T (p.Leu327=) c.1495C>T (p.Leu499=) c.1204C>T (p.Leu402=) c.2319+20944G>A (n.2319+20944G>A) c.1039C>T (p.Leu347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95101724G>C | CA374104247 | AOPEP,FANCC | n.410+20944G>C n.2475C>G c.1660C>G (p.Leu554Val) c.1805C>G (n.1805C>G) c.979C>G (p.Leu327Val) c.1495C>G (p.Leu499Val) c.1204C>G (p.Leu402Val) c.2319+20944G>C (n.2319+20944G>C) c.1039C>G (p.Leu347Val) | |
| 9 | g.95101724G= | CA1865459508 | AOPEP,FANCC | n.410+20944G= n.2475C= c.1660C= (p.Leu554=) c.1805C= (n.1805C=) c.979C= (p.Leu327=) c.1495C= (p.Leu499=) c.1204C= (p.Leu402=) c.2319+20944G= (n.2319+20944G=) c.1039C= (p.Leu347=) | |
| 9 | g.95101724G>T | CA374104248 | AOPEP,FANCC | n.410+20944G>T n.2475C>A c.1660C>A (p.Leu554Met) c.1805C>A (n.1805C>A) c.979C>A (p.Leu327Met) c.1495C>A (p.Leu499Met) c.1204C>A (p.Leu402Met) c.2319+20944G>T (n.2319+20944G>T) c.1039C>A (p.Leu347Met) | |
| 9 | g.95101725C>A | CA374104249 | AOPEP,FANCC | n.410+20945C>A n.2474G>T c.1659G>T (p.Glu553Asp) c.1804G>T (n.1804G>T) c.978G>T (p.Glu326Asp) c.1494G>T (p.Glu498Asp) c.1203G>T (p.Glu401Asp) c.2319+20945C>A (n.2319+20945C>A) c.1038G>T (p.Glu346Asp) | |
| 9 | g.95101725C= | CA1865459509 | AOPEP,FANCC | n.410+20945C= n.2474G= c.1659G= (p.Glu553=) c.1804G= (n.1804G=) c.978G= (p.Glu326=) c.1494G= (p.Glu498=) c.1203G= (p.Glu401=) c.2319+20945C= (n.2319+20945C=) c.1038G= (p.Glu346=) | |
| 9 | g.95101725C>G | CA374104250 | AOPEP,FANCC | n.410+20945C>G n.2474G>C c.1659G>C (p.Glu553Asp) c.1804G>C (n.1804G>C) c.978G>C (p.Glu326Asp) c.1494G>C (p.Glu498Asp) c.1203G>C (p.Glu401Asp) c.2319+20945C>G (n.2319+20945C>G) c.1038G>C (p.Glu346Asp) | |
| 9 | g.95101725C>T | CA466092045 | AOPEP,FANCC | n.410+20945C>T n.2474G>A c.1659G>A (p.Glu553=) c.1804G>A (n.1804G>A) c.978G>A (p.Glu326=) c.1494G>A (p.Glu498=) c.1203G>A (p.Glu401=) c.2319+20945C>T (n.2319+20945C>T) c.1038G>A (p.Glu346=) | |
| 9 | g.95101726T>A | CA374104251 | AOPEP,FANCC | n.410+20946T>A n.2473A>T c.1658A>T (p.Glu553Val) c.1803A>T (n.1803A>T) c.977A>T (p.Glu326Val) c.1493A>T (p.Glu498Val) c.1202A>T (p.Glu401Val) c.2319+20946T>A (n.2319+20946T>A) c.1037A>T (p.Glu346Val) | ClinVar |
| 9 | g.95101726T>C | CA374104252 | AOPEP,FANCC | n.410+20946T>C n.2473A>G c.1658A>G (p.Glu553Gly) c.1803A>G (n.1803A>G) c.977A>G (p.Glu326Gly) c.1493A>G (p.Glu498Gly) c.1202A>G (p.Glu401Gly) c.2319+20946T>C (n.2319+20946T>C) c.1037A>G (p.Glu346Gly) | |
| 9 | g.95101726T>G | CA374104253 | AOPEP,FANCC | n.410+20946T>G n.2473A>C c.1658A>C (p.Glu553Ala) c.1803A>C (n.1803A>C) c.977A>C (p.Glu326Ala) c.1493A>C (p.Glu498Ala) c.1202A>C (p.Glu401Ala) c.2319+20946T>G (n.2319+20946T>G) c.1037A>C (p.Glu346Ala) | |
| 9 | g.95101727_95101730dup | CA2580080687 | AOPEP,FANCC | n.410+20947_410+20950dup n.2470_2473dup c.1655_1658dup (p.Leu554ArgfsTer?) c.1800_1803dup (n.1800_1803dup) c.974_977dup (p.Leu327ArgfsTer?) c.1490_1493dup (p.Leu499ArgfsTer?) c.1199_1202dup (p.Leu402ArgfsTer?) c.2319+20947_2319+20950dup (n.2319+20947_2319+20950dup) c.1034_1037dup (p.Leu347ArgfsTer?) | ClinVar |
| 9 | g.95101726_95101743dup | CA915947014 | AOPEP,FANCC | n.410+20946_410+20963dup n.2456_2473dup c.1641_1658dup (p.Lys552_Glu553insAspArgGluLeuLeuLys) c.1786_1803dup (n.1786_1803dup) c.960_977dup (p.Lys325_Glu326insAspArgGluLeuLeuLys) c.1476_1493dup (p.Lys497_Glu498insAspArgGluLeuLeuLys) c.1185_1202dup (p.Lys400_Glu401insAspArgGluLeuLeuLys) c.2319+20946_2319+20963dup (n.2319+20946_2319+20963dup) c.1020_1037dup (p.Lys345_Glu346insAspArgGluLeuLeuLys) | ClinVar dbSNP gnomAD v4 |
| 9 | g.95101727C>A | CA374104254 | AOPEP,FANCC | n.410+20947C>A n.2472G>T c.1657G>T (p.Glu553Ter) c.1802G>T (n.1802G>T) c.976G>T (p.Glu326Ter) c.1492G>T (p.Glu498Ter) c.1201G>T (p.Glu401Ter) c.2319+20947C>A (n.2319+20947C>A) c.1036G>T (p.Glu346Ter) | |
| 9 | g.95101727C= | CA1865459510 | AOPEP,FANCC | n.410+20947C= n.2472G= c.1657G= (p.Glu553=) c.1802G= (n.1802G=) c.976G= (p.Glu326=) c.1492G= (p.Glu498=) c.1201G= (p.Glu401=) c.2319+20947C= (n.2319+20947C=) c.1036G= (p.Glu346=) | |
| 9 | g.95101727C>G | CA374104255 | AOPEP,FANCC | n.410+20947C>G n.2472G>C c.1657G>C (p.Glu553Gln) c.1802G>C (n.1802G>C) c.976G>C (p.Glu326Gln) c.1492G>C (p.Glu498Gln) c.1201G>C (p.Glu401Gln) c.2319+20947C>G (n.2319+20947C>G) c.1036G>C (p.Glu346Gln) | |
| 9 | g.95101727C>T | CA374104256 | AOPEP,FANCC | n.410+20947C>T n.2472G>A c.1657G>A (p.Glu553Lys) c.1802G>A (n.1802G>A) c.976G>A (p.Glu326Lys) c.1492G>A (p.Glu498Lys) c.1201G>A (p.Glu401Lys) c.2319+20947C>T (n.2319+20947C>T) c.1036G>A (p.Glu346Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95101728T>A | CA374104258 | AOPEP,FANCC | n.410+20948T>A n.2471A>T c.1656A>T (p.Lys552Asn) c.1801A>T (n.1801A>T) c.975A>T (p.Lys325Asn) c.1491A>T (p.Lys497Asn) c.1200A>T (p.Lys400Asn) c.2319+20948T>A (n.2319+20948T>A) c.1035A>T (p.Lys345Asn) | |
| 9 | g.95101728T>C | CA466092046 | AOPEP,FANCC | n.410+20948T>C n.2471A>G c.1656A>G (p.Lys552=) c.1801A>G (n.1801A>G) c.975A>G (p.Lys325=) c.1491A>G (p.Lys497=) c.1200A>G (p.Lys400=) c.2319+20948T>C (n.2319+20948T>C) c.1035A>G (p.Lys345=) | ClinVar |
| 9 | g.95101728T>G | CA374104257 | AOPEP,FANCC | n.410+20948T>G n.2471A>C c.1656A>C (p.Lys552Asn) c.1801A>C (n.1801A>C) c.975A>C (p.Lys325Asn) c.1491A>C (p.Lys497Asn) c.1200A>C (p.Lys400Asn) c.2319+20948T>G (n.2319+20948T>G) c.1035A>C (p.Lys345Asn) | |
| 9 | g.95101729T>A | CA374104259 | AOPEP,FANCC | n.410+20949T>A n.2470A>T c.1655A>T (p.Lys552Ile) c.1800A>T (n.1800A>T) c.974A>T (p.Lys325Ile) c.1490A>T (p.Lys497Ile) c.1199A>T (p.Lys400Ile) c.2319+20949T>A (n.2319+20949T>A) c.1034A>T (p.Lys345Ile) | |
| 9 | g.95101729T>C | CA374104260 | AOPEP,FANCC | n.410+20949T>C n.2470A>G c.1655A>G (p.Lys552Arg) c.1800A>G (n.1800A>G) c.974A>G (p.Lys325Arg) c.1490A>G (p.Lys497Arg) c.1199A>G (p.Lys400Arg) c.2319+20949T>C (n.2319+20949T>C) c.1034A>G (p.Lys345Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.95101729T>G | CA374104261 | AOPEP,FANCC | n.410+20949T>G n.2470A>C c.1655A>C (p.Lys552Thr) c.1800A>C (n.1800A>C) c.974A>C (p.Lys325Thr) c.1490A>C (p.Lys497Thr) c.1199A>C (p.Lys400Thr) c.2319+20949T>G (n.2319+20949T>G) c.1034A>C (p.Lys345Thr) | |
| 9 | g.95101729T= | CA1865459511 | AOPEP,FANCC | n.410+20949T= n.2470A= c.1655A= (p.Lys552=) c.1800A= (n.1800A=) c.974A= (p.Lys325=) c.1490A= (p.Lys497=) c.1199A= (p.Lys400=) c.2319+20949T= (n.2319+20949T=) c.1034A= (p.Lys345=) | |
| 9 | g.95101730T>A | CA374104262 | AOPEP,FANCC | n.410+20950T>A n.2469A>T c.1654A>T (p.Lys552Ter) c.1799A>T (n.1799A>T) c.973A>T (p.Lys325Ter) c.1489A>T (p.Lys497Ter) c.1198A>T (p.Lys400Ter) c.2319+20950T>A (n.2319+20950T>A) c.1033A>T (p.Lys345Ter) | |
| 9 | g.95101730T>C | CA374104263 | AOPEP,FANCC | n.410+20950T>C n.2469A>G c.1654A>G (p.Lys552Glu) c.1799A>G (n.1799A>G) c.973A>G (p.Lys325Glu) c.1489A>G (p.Lys497Glu) c.1198A>G (p.Lys400Glu) c.2319+20950T>C (n.2319+20950T>C) c.1033A>G (p.Lys345Glu) | ClinVar gnomAD v4 |
| 9 | g.95101730T>G | CA374104264 | AOPEP,FANCC | n.410+20950T>G n.2469A>C c.1654A>C (p.Lys552Gln) c.1799A>C (n.1799A>C) c.973A>C (p.Lys325Gln) c.1489A>C (p.Lys497Gln) c.1198A>C (p.Lys400Gln) c.2319+20950T>G (n.2319+20950T>G) c.1033A>C (p.Lys345Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.95101730T= | CA1865459512 | AOPEP,FANCC | n.410+20950T= n.2469A= c.1654A= (p.Lys552=) c.1799A= (n.1799A=) c.973A= (p.Lys325=) c.1489A= (p.Lys497=) c.1198A= (p.Lys400=) c.2319+20950T= (n.2319+20950T=) c.1033A= (p.Lys345=) | |
| 9 | g.95101731A>C | CA466092047 | AOPEP,FANCC | n.410+20951A>C n.2468T>G c.1653T>G (p.Leu551=) c.1798T>G (n.1798T>G) c.972T>G (p.Leu324=) c.1488T>G (p.Leu496=) c.1197T>G (p.Leu399=) c.2319+20951A>C (n.2319+20951A>C) c.1032T>G (p.Leu344=) | |
| 9 | g.95101731A>G | CA466092048 | AOPEP,FANCC | n.410+20951A>G n.2468T>C c.1653T>C (p.Leu551=) c.1798T>C (n.1798T>C) c.972T>C (p.Leu324=) c.1488T>C (p.Leu496=) c.1197T>C (p.Leu399=) c.2319+20951A>G (n.2319+20951A>G) c.1032T>C (p.Leu344=) | |
| 9 | g.95101731A>T | CA466092049 | AOPEP,FANCC | n.410+20951A>T n.2468T>A c.1653T>A (p.Leu551=) c.1798T>A (n.1798T>A) c.972T>A (p.Leu324=) c.1488T>A (p.Leu496=) c.1197T>A (p.Leu399=) c.2319+20951A>T (n.2319+20951A>T) c.1032T>A (p.Leu344=) | |
| 9 | g.95101732dup | CA2573144781 | AOPEP,FANCC | n.410+20952dup n.2468dup c.1653dup (p.Lys552Ter) c.1798dup (n.1798dup) c.972dup (p.Lys325Ter) c.1488dup (p.Lys497Ter) c.1197dup (p.Lys400Ter) c.2319+20952dup (n.2319+20952dup) c.1032dup (p.Lys345Ter) | ClinVar dbSNP |
| 9 | g.95101732A>C | CA374104265 | AOPEP,FANCC | n.410+20952A>C n.2467T>G c.1652T>G (p.Leu551Arg) c.1797T>G (n.1797T>G) c.971T>G (p.Leu324Arg) c.1487T>G (p.Leu496Arg) c.1196T>G (p.Leu399Arg) c.2319+20952A>C (n.2319+20952A>C) c.1031T>G (p.Leu344Arg) | |
| 9 | g.95101732A>G | CA374104267 | AOPEP,FANCC | n.410+20952A>G n.2467T>C c.1652T>C (p.Leu551Pro) c.1797T>C (n.1797T>C) c.971T>C (p.Leu324Pro) c.1487T>C (p.Leu496Pro) c.1196T>C (p.Leu399Pro) c.2319+20952A>G (n.2319+20952A>G) c.1031T>C (p.Leu344Pro) | |
| 9 | g.95101732A>T | CA374104266 | AOPEP,FANCC | n.410+20952A>T n.2467T>A c.1652T>A (p.Leu551His) c.1797T>A (n.1797T>A) c.971T>A (p.Leu324His) c.1487T>A (p.Leu496His) c.1196T>A (p.Leu399His) c.2319+20952A>T (n.2319+20952A>T) c.1031T>A (p.Leu344His) | ClinVar |
| 9 | g.95101732_95101733dup | CA2582342008 | AOPEP,FANCC | n.410+20952_410+20953dup n.2466_2467dup c.1651_1652dup (p.Lys552LeufsTer?) c.1796_1797dup (n.1796_1797dup) c.970_971dup (p.Lys325LeufsTer?) c.1486_1487dup (p.Lys497LeufsTer?) c.1195_1196dup (p.Lys400LeufsTer?) c.2319+20952_2319+20953dup (n.2319+20952_2319+20953dup) c.1030_1031dup (p.Lys345LeufsTer?) | ClinVar |
| 9 | g.95101733G>A | CA374104268 | AOPEP,FANCC | n.410+20953G>A n.2466C>T c.1651C>T (p.Leu551Phe) c.1796C>T (n.1796C>T) c.970C>T (p.Leu324Phe) c.1486C>T (p.Leu496Phe) c.1195C>T (p.Leu399Phe) c.2319+20953G>A (n.2319+20953G>A) c.1030C>T (p.Leu344Phe) | |
| 9 | g.95101733G>C | CA374104270 | AOPEP,FANCC | n.410+20953G>C n.2466C>G c.1651C>G (p.Leu551Val) c.1796C>G (n.1796C>G) c.970C>G (p.Leu324Val) c.1486C>G (p.Leu496Val) c.1195C>G (p.Leu399Val) c.2319+20953G>C (n.2319+20953G>C) c.1030C>G (p.Leu344Val) | |
| 9 | g.95101733G>T | CA374104273 | AOPEP,FANCC | n.410+20953G>T n.2466C>A c.1651C>A (p.Leu551Ile) c.1796C>A (n.1796C>A) c.970C>A (p.Leu324Ile) c.1486C>A (p.Leu496Ile) c.1195C>A (p.Leu399Ile) c.2319+20953G>T (n.2319+20953G>T) c.1030C>A (p.Leu344Ile) | |
| 9 | g.95101734G>A | CA466092050 | AOPEP,FANCC | n.410+20954G>A n.2465C>T c.1650C>T (p.Leu550=) c.1795C>T (n.1795C>T) c.969C>T (p.Leu323=) c.1485C>T (p.Leu495=) c.1194C>T (p.Leu398=) c.2319+20954G>A (n.2319+20954G>A) c.1029C>T (p.Leu343=) | gnomAD v4 |
| 9 | g.95101734G>C | CA466092051 | AOPEP,FANCC | n.410+20954G>C n.2465C>G c.1650C>G (p.Leu550=) c.1795C>G (n.1795C>G) c.969C>G (p.Leu323=) c.1485C>G (p.Leu495=) c.1194C>G (p.Leu398=) c.2319+20954G>C (n.2319+20954G>C) c.1029C>G (p.Leu343=) | gnomAD v4 |
| 9 | g.95101734G>T | CA466092052 | AOPEP,FANCC | n.410+20954G>T n.2465C>A c.1650C>A (p.Leu550=) c.1795C>A (n.1795C>A) c.969C>A (p.Leu323=) c.1485C>A (p.Leu495=) c.1194C>A (p.Leu398=) c.2319+20954G>T (n.2319+20954G>T) c.1029C>A (p.Leu343=) | |
| 9 | g.95101735A>C | CA374104276 | AOPEP,FANCC | n.410+20955A>C n.2464T>G c.1649T>G (p.Leu550Arg) c.1794T>G (n.1794T>G) c.968T>G (p.Leu323Arg) c.1484T>G (p.Leu495Arg) c.1193T>G (p.Leu398Arg) c.2319+20955A>C (n.2319+20955A>C) c.1028T>G (p.Leu343Arg) | |
| 9 | g.95101735A>G | CA374104278 | AOPEP,FANCC | n.410+20955A>G n.2464T>C c.1649T>C (p.Leu550Pro) c.1794T>C (n.1794T>C) c.968T>C (p.Leu323Pro) c.1484T>C (p.Leu495Pro) c.1193T>C (p.Leu398Pro) c.2319+20955A>G (n.2319+20955A>G) c.1028T>C (p.Leu343Pro) | |
| 9 | g.95101735A>T | CA374104280 | AOPEP,FANCC | n.410+20955A>T n.2464T>A c.1649T>A (p.Leu550His) c.1794T>A (n.1794T>A) c.968T>A (p.Leu323His) c.1484T>A (p.Leu495His) c.1193T>A (p.Leu398His) c.2319+20955A>T (n.2319+20955A>T) c.1028T>A (p.Leu343His) | |
| 9 | g.95101736G>A | CA374104283 | AOPEP,FANCC | n.410+20956G>A n.2463C>T c.1648C>T (p.Leu550Phe) c.1793C>T (n.1793C>T) c.967C>T (p.Leu323Phe) c.1483C>T (p.Leu495Phe) c.1192C>T (p.Leu398Phe) c.2319+20956G>A (n.2319+20956G>A) c.1027C>T (p.Leu343Phe) | dbSNP gnomAD v4 |