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"referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642933.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000496237.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000496237.1:p.Arg97_Leu451delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766996" }, { "coordinates": [ { "allele": "T", "end": 236, "referenceAllele": "C", "start": 235 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643020.1:c.236C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767045" }, { "coordinates": [ { "allele": "T", "end": 343, "referenceAllele": "C", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643041.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000495311.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000495311.1:p.Arg97_Gln370delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProGluGluGlnMetLysArgProPheIleGlnValPheGlnAsnLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767056" }, { "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643128.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000496678.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000496678.1:p.Arg97_Gln418delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767106" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "C", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643193.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000496559.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000496559.1:p.Arg97_Phe458delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767145" }, { "coordinates": [ { "allele": "T", "end": 159, "endIntronDirection": "-", "endIntronOffset": 4905, "referenceAllele": "C", "start": 159, "startIntronDirection": "-", "startIntronOffset": 4906 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643206.1:c.110-4906C>T" ], "proteinEffect": { "hgvs": "ENSP00000496172.1:n.110-4906C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767151" }, { "coordinates": [ { "allele": "T", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643272.1:c.397C>T" ], "proteinEffect": { "hgvs": "ENSP00000494488.1:p.Arg133Ter", "hgvsWellDefined": "ENSP00000494488.1:p.Arg133_Pro464delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767189" }, { "coordinates": [ { "allele": "T", "end": 1593, "referenceAllele": "C", "start": 1592 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643358.1:n.1593C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767240" }, { "coordinates": [ { "allele": "T", "end": 151, "referenceAllele": "C", "start": 150 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643368.1:n.151C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767244" }, { "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643605.1:c.*276C>T" ], "proteinEffect": { "hgvs": "ENSP00000496480.1:n.*276C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767370" }, { "coordinates": [ { "allele": "T", "end": 344, "referenceAllele": "C", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643610.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000494350.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000494350.1:p.Arg97_Ser454delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAspGlyValSerProCysTrpProGlyTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767374" }, { "coordinates": [ { "allele": "T", "end": 357, "referenceAllele": "C", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643714.1:n.357C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767431" }, { "coordinates": [ { "allele": "T", "end": 388, "referenceAllele": "C", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643903.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000495165.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000495165.1:p.Arg97_Gln409delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767533" }, { "coordinates": [ { "allele": "T", "end": 400, "referenceAllele": "C", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644087.1:c.*219C>T" ], "proteinEffect": { "hgvs": "ENSP00000495249.1:n.*219C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767625" }, { "coordinates": [ { "allele": "T", "end": 338, "referenceAllele": "C", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644116.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000495276.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000495276.1:p.Arg97_Leu476delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767642" }, { "coordinates": [ { "allele": "T", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644122.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000495236.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000495236.1:p.Arg97_Ile482delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGluIleIlePheSerIleThrAlaPheValAsnLeuArgArgPheSerPheAspAsnPheSerLysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767645" }, { "coordinates": [ { "allele": "T", "end": 271, "referenceAllele": "C", "start": 270 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644201.1:c.271C>T" ], "proteinEffect": { "hgvs": "ENSP00000495044.1:p.Arg91Ter", "hgvsWellDefined": "ENSP00000495044.1:p.Arg91_Asn173delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAlaPheMetSerTrpLeuValGlnMetSerArgPheLeuLeuValTyrGluLysLeuLysIleHisArgIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767694" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644375.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000494315.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000494315.1:p.Arg97_Leu473delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluCysHisLeuGlnLeuGlnSerLeuProGluAlaLeuSerSerHisCysProGluLysGluTyrPheIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767787" }, { "coordinates": [ { "allele": "T", "end": 377, "referenceAllele": "C", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644551.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000493981.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000493981.1:p.Arg97_Pro464delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767877" }, { "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644609.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000496045.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000496045.1:p.Arg97_Leu450delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767899" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644639.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000496391.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000496391.1:p.Arg97_Leu161delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluGlyValTyrArgTyrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767913" }, { "coordinates": [ { "allele": "T", "end": 190, "referenceAllele": "C", "start": 189 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644674.1:n.190C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767930" }, { "coordinates": [ { "allele": "T", "end": 461, "referenceAllele": "C", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644681.1:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000496455.1:p.Arg6Ter", "hgvsWellDefined": "ENSP00000496455.1:p.Arg6_Leu360delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767936" }, { "coordinates": [ { "allele": "T", "end": 242, "referenceAllele": "C", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644682.1:c.242C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767937" }, { "coordinates": [ { "allele": "T", "end": 398, "referenceAllele": "C", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644816.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000494898.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000494898.1:p.Arg97_Leu460delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768014" }, { "coordinates": [ { "allele": "T", "end": 173, "endIntronDirection": "+", "endIntronOffset": 1416, "referenceAllele": "C", "start": 173, "startIntronDirection": "+", "startIntronOffset": 1415 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644924.1:n.173+1416C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768078" }, { "coordinates": [ { "allele": "T", "end": 10, "referenceAllele": "C", "start": 9 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644966.1:c.10C>T" ], "proteinEffect": { "hgvs": "ENSP00000495105.1:p.Arg4Ter", "hgvsWellDefined": "ENSP00000495105.1:p.Arg4_Leu105delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerGlyAspSerProAlaSerAlaSerArgValGlyValTyrArgTyrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768095" }, { "coordinates": [ { "allele": "T", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645101.1:c.397C>T" ], "proteinEffect": { "hgvs": "ENSP00000494975.1:p.Arg133Ter", "hgvsWellDefined": "ENSP00000494975.1:p.Arg133_Pro491delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768173" }, { "coordinates": [ { "allele": "T", "end": 435, "referenceAllele": "C", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645109.1:c.397C>T" ], "proteinEffect": { "hgvs": "ENSP00000495931.1:p.Arg133Ter", "hgvsWellDefined": "ENSP00000495931.1:p.Arg133_Gln454delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768178" }, { "coordinates": [ { "allele": "T", "end": 169, "referenceAllele": "C", "start": 168 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645262.1:c.166C>T" ], "proteinEffect": { "hgvs": "ENSP00000494164.1:p.Arg56Ter", "hgvsWellDefined": "ENSP00000494164.1:p.Arg56_Leu410delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768254" }, { "coordinates": [ { "allele": "T", "end": 343, "referenceAllele": "C", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645390.1:n.343C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768325" }, { "coordinates": [ { "allele": "T", "end": 287, "referenceAllele": "C", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645445.1:c.287C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768356" }, { "coordinates": [ { "allele": "T", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645535.1:c.16C>T" ], "proteinEffect": { "hgvs": "ENSP00000493984.1:p.Arg6Ter", "hgvsWellDefined": "ENSP00000493984.1:p.Arg6_Leu360delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768410" }, { "coordinates": [ { "allele": "T", "end": 357, "referenceAllele": "C", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645579.1:n.357C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768441" }, { "coordinates": [ { "allele": "T", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645725.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000495480.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000495480.1:p.Arg97_Pro455delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" 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"ENSP00000495591.1:p.Arg97_Pro429delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768693" }, { "coordinates": [ { "allele": "T", "end": 263, "referenceAllele": "C", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646119.1:c.263C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768710" }, { "coordinates": [ { "allele": "T", "end": 357, "referenceAllele": "C", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646137.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000495199.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000495199.1:p.Arg97_Ile446delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGluIleIlePheSerIleThrAlaPheValAsnLeuArgArgPheSerPheAspAsnPheSerLysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768720" }, { "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "C", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646265.1:c.378C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768784" }, { "coordinates": [ { "allele": "T", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646301.1:c.262C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768804" }, { "coordinates": [ { "allele": "T", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646434.1:c.457C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768869" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "C", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646466.1:c.*219C>T" ], "proteinEffect": { "hgvs": "ENSP00000493511.1:n.*219C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768891" }, { "coordinates": [ { "allele": "T", "end": 439, "referenceAllele": "C", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646489.1:c.397C>T" ], "proteinEffect": { "hgvs": "ENSP00000496268.1:p.Arg133Ter", "hgvsWellDefined": "ENSP00000496268.1:p.Arg133_Pro473delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768903" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646559.1:c.*219C>T" ], "proteinEffect": { "hgvs": "ENSP00000495838.1:n.*219C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768938" }, { "coordinates": [ { "allele": "T", "end": 439, "referenceAllele": "C", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646600.1:c.*219C>T" ], "proteinEffect": { "hgvs": "ENSP00000494041.1:n.*219C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768965" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ 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"ENSP00000495209.1:p.Arg97_Cys426delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769112" }, { "coordinates": [ { "allele": "T", "end": 322, "referenceAllele": "C", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646910.1:n.322C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769133" }, { "coordinates": [ { "allele": "T", "end": 317, "referenceAllele": "C", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646943.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000494666.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000494666.1:p.Arg97_Leu485delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769152" }, { "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647018.1:c.397C>T" ], "proteinEffect": { "hgvs": "ENSP00000493722.1:p.Arg133Ter", "hgvsWellDefined": "ENSP00000493722.1:p.Arg133_Gln454delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769193" }, { "coordinates": [ { "allele": "T", "end": 113, "referenceAllele": "C", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647048.1:c.113C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769208" }, { "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647096.1:c.397C>T" ], "proteinEffect": { "hgvs": "ENSP00000494192.1:p.Arg133Ter", "hgvsWellDefined": "ENSP00000494192.1:p.Arg133_Pro500delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgPheLysAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769230" }, { "coordinates": [ { "allele": "T", "end": 184, "referenceAllele": "C", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647110.1:c.184C>T" ], "proteinEffect": { "hgvs": "ENSP00000494738.1:p.Arg62Ter", "hgvsWellDefined": "ENSP00000494738.1:p.Arg62_Leu453delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerGlyAspSerProAlaSerAlaSerArgValAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769238" }, { "coordinates": [ { "allele": "T", "end": 395, "referenceAllele": "C", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647334.1:c.395C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769357" }, { "coordinates": [ { "allele": "T", "end": 317, "referenceAllele": "C", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647351.1:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000494556.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000494556.1:p.Arg97_Leu487delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769368" }, { "coordinates": [ { "allele": "T", "end": 324, "referenceAllele": "C", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000648936.2:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000497130.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000497130.1:p.Arg97_Pro437delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770269", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.289C>T" }, "RefSeq": { "hgvs": "NM_003919.3:c.289C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:p.Arg97Ter" }, "RefSeq": { "hgvs": "NP_003910.1:p.Arg97Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 400, "referenceAllele": "C", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000265735.11:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000265735.6:p.Arg97Ter", "hgvsWellDefined": "ENSP00000265735.6:p.Arg97_Pro437delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251813" }, { "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "C", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000415788.2:c.397C>T" ], "proteinEffect": { "hgvs": "ENSP00000405313.2:p.Arg133Ter", "hgvsWellDefined": "ENSP00000405313.2:p.Arg133_Cys471delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS284151" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000425444.1:c.*219C>T" ], "proteinEffect": { "hgvs": "ENSP00000391892.1:n.*219C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS288762" }, { "coordinates": [ { "allele": "T", "end": 289, "referenceAllele": "C", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000428696.6:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000397536.2:p.Arg97Ter", "hgvsWellDefined": "ENSP00000397536.2:p.Arg97_Leu451delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290318" }, { "coordinates": [ { "allele": "T", "end": 234, "referenceAllele": "C", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000437425.6:c.166C>T" ], "proteinEffect": { "hgvs": "ENSP00000394061.2:p.Arg56Ter", "hgvsWellDefined": "ENSP00000394061.2:p.Arg56_Pro396delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294460" }, { "coordinates": [ { "allele": "T", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000445866.6:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000398930.2:p.Arg97Ter", "hgvsWellDefined": "ENSP00000398930.2:p.Arg97_Pro462delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS298479" }, { "coordinates": [ { "allele": "T", "end": 357, "referenceAllele": "C", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000447873.5:c.289C>T" ], "proteinEffect": { "hgvs": "ENSP00000388734.1:p.Arg97Ter", "hgvsWellDefined": "ENSP00000388734.1:p.Arg97_Pro428delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299469" }, { "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000450385.5:c.*327C>T" ], "proteinEffect": { "hgvs": "ENSP00000398344.1:n.*327C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS300679" }, { "@id": "http://reg.genome.network/allele/PA2825536279", "coordinates": [ { "allele": "T", "end": 400, "referenceAllele": "C", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099400.1:c.289C>T" ], "proteinEffect": { "hgvs": "NP_001092870.1:p.Arg97Ter", "hgvsWellDefined": "NP_001092870.1:p.Arg97_Leu451delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010734" }, { "@id": "http://reg.genome.network/allele/PA2825536657", "coordinates": [ { "allele": "T", "end": 400, "referenceAllele": "C", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099401.1:c.289C>T" ], "proteinEffect": { "hgvs": "NP_001092871.1:p.Arg97Ter", "hgvsWellDefined": "NP_001092871.1:p.Arg97_Pro462delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010735" }, { "@id": "http://reg.genome.network/allele/PA2826864607", "coordinates": [ { "allele": "T", "end": 277, "referenceAllele": "C", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001301139.1:c.166C>T" ], "proteinEffect": { "hgvs": "NP_001288068.1:p.Arg56Ter", "hgvsWellDefined": "NP_001288068.1:p.Arg56_Pro396delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025125" }, { "@id": "http://reg.genome.network/allele/PA253598", "coordinates": [ { "allele": "T", "end": 400, "referenceAllele": "C", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_003919.2:c.289C>T" ], "proteinEffect": { "hgvs": "NP_003910.1:p.Arg97Ter", "hgvsWellDefined": "NP_003910.1:p.Arg97_Pro437delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029129" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_005250675.3:c.397C>T" ], "proteinEffect": { "hgvs": "XP_005250732.1:p.Arg133Ter", "hgvsWellDefined": "XP_005250732.1:p.Arg133_Pro473delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059257" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_005250677.3:c.397C>T" ], "proteinEffect": { "hgvs": "XP_005250734.1:p.Arg133Ter", "hgvsWellDefined": "XP_005250734.1:p.Arg133_Pro464delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059258" }, { "coordinates": [ { "allele": "A", "end": 2192, "endIntronDirection": "-", "endIntronOffset": 3012, "referenceAllele": "G", "start": 2192, "startIntronDirection": "-", "startIntronOffset": 3013 } ], "gene": "http://reg.genome.network/gene/GN016014", "geneNCBI_id": 64921, "geneSymbol": "CASD1", "hgvs": [ "XM_011516495.1:c.2128-3013G>A" ], "proteinEffect": { "hgvs": "XP_011514797.1:n.2128-3013G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS083696" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516663.1:c.397C>T" ], "proteinEffect": { "hgvs": "XP_011514965.1:p.Arg133Ter", "hgvsWellDefined": "XP_011514965.1:p.Arg133_Phe503delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083863" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516664.1:c.397C>T" ], "proteinEffect": { "hgvs": "XP_011514966.1:p.Arg133Ter", "hgvsWellDefined": "XP_011514966.1:p.Arg133_Phe494delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083864" }, { "coordinates": [ { "allele": "T", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516665.1:c.289C>T" ], "proteinEffect": { "hgvs": "XP_011514967.1:p.Arg97Ter", "hgvsWellDefined": "XP_011514967.1:p.Arg97_Phe467delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083865" }, { "coordinates": [ { "allele": "T", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516666.1:c.289C>T" ], "proteinEffect": { "hgvs": "XP_011514968.1:p.Arg97Ter", "hgvsWellDefined": "XP_011514968.1:p.Arg97_Phe458delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083866" }, { "coordinates": [ { "allele": "T", "end": 489, "referenceAllele": "C", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516667.1:c.202C>T" ], "proteinEffect": { "hgvs": "XP_011514969.1:p.Arg68Ter", "hgvsWellDefined": "XP_011514969.1:p.Arg68_Phe438delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083867" }, { "coordinates": [ { "allele": "T", "end": 239, "referenceAllele": "C", "start": 238 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516668.1:c.166C>T" ], "proteinEffect": { "hgvs": "XP_011514970.1:p.Arg56Ter", "hgvsWellDefined": "XP_011514970.1:p.Arg56_Phe426delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083868" }, { "coordinates": [ { "allele": "T", "end": 421, "referenceAllele": "C", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516669.1:c.16C>T" ], "proteinEffect": { "hgvs": "XP_011514971.1:p.Arg6Ter", "hgvsWellDefined": "XP_011514971.1:p.Arg6_Phe376delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083869" }, { "@id": "http://reg.genome.network/allele/PA2827382216", "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "C", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346713.1:c.397C>T" ], "proteinEffect": { "hgvs": "NP_001333642.1:p.Arg133Ter", "hgvsWellDefined": "NP_001333642.1:p.Arg133_Pro473delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517651" }, { "@id": "http://reg.genome.network/allele/PA2827382548", "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "C", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346715.1:c.397C>T" ], "proteinEffect": { "hgvs": "NP_001333644.1:p.Arg133Ter", "hgvsWellDefined": "NP_001333644.1:p.Arg133_Pro464delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517653" }, { "@id": "http://reg.genome.network/allele/PA2827382839", "coordinates": [ { "allele": "T", "end": 400, "referenceAllele": "C", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346717.1:c.289C>T" ], "proteinEffect": { "hgvs": "NP_001333646.1:p.Arg97Ter", "hgvsWellDefined": "NP_001333646.1:p.Arg97_Pro428delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517655" }, { "@id": "http://reg.genome.network/allele/PA2827383179", "coordinates": [ { "allele": "T", "end": 570, "referenceAllele": "C", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346719.1:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001333648.1:p.Arg68Ter", "hgvsWellDefined": "NP_001333648.1:p.Arg68_Pro408delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517656" }, { "@id": "http://reg.genome.network/allele/PA2827383486", "coordinates": [ { "allele": "T", "end": 462, "referenceAllele": "C", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346720.1:c.16C>T" ], "proteinEffect": { "hgvs": "NP_001333649.1:p.Arg6Ter", "hgvsWellDefined": "NP_001333649.1:p.Arg6_Pro346delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517657" }, { "@id": "http://reg.genome.network/allele/PA2828066123", "coordinates": [ { "allele": "T", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362807.1:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001349736.1:p.Arg68Ter", "hgvsWellDefined": "NP_001349736.1:p.Arg68_Pro399delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523075" }, { "@id": "http://reg.genome.network/allele/PA2828066403", "coordinates": [ { "allele": "T", "end": 462, "referenceAllele": "C", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362808.1:c.16C>T" ], "proteinEffect": { "hgvs": "NP_001349737.1:p.Arg6Ter", "hgvsWellDefined": "NP_001349737.1:p.Arg6_Pro337delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523076" }, { "@id": "http://reg.genome.network/allele/PA2828066712", "coordinates": [ { "allele": "T", "end": 277, "referenceAllele": "C", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362809.1:c.166C>T" ], "proteinEffect": { "hgvs": "NP_001349738.1:p.Arg56Ter", "hgvsWellDefined": "NP_001349738.1:p.Arg56_Pro387delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523077" }, { "coordinates": [ { "allele": "A", "end": 2192, "endIntronDirection": "-", "endIntronOffset": 3012, "referenceAllele": "G", "start": 2192, "startIntronDirection": "-", "startIntronOffset": 3013 } ], "gene": "http://reg.genome.network/gene/GN016014", "geneNCBI_id": 64921, "geneSymbol": "CASD1", "hgvs": [ "XM_011516495.2:c.2128-3013G>A" ], "proteinEffect": { "hgvs": "XP_011514797.1:n.2128-3013G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS544191" }, { "coordinates": [ { "allele": "T", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516663.2:c.397C>T" ], "proteinEffect": { "hgvs": "XP_011514965.1:p.Arg133Ter", "hgvsWellDefined": "XP_011514965.1:p.Arg133_Phe503delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544255" }, { "coordinates": [ { "allele": "T", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516664.2:c.397C>T" ], "proteinEffect": { "hgvs": "XP_011514966.1:p.Arg133Ter", "hgvsWellDefined": "XP_011514966.1:p.Arg133_Phe494delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544256" }, { "coordinates": [ { "allele": "T", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516665.3:c.289C>T" ], "proteinEffect": { "hgvs": "XP_011514967.1:p.Arg97Ter", "hgvsWellDefined": "XP_011514967.1:p.Arg97_Phe467delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544257" }, { "coordinates": [ { "allele": "T", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516666.3:c.289C>T" ], "proteinEffect": { "hgvs": "XP_011514968.1:p.Arg97Ter", "hgvsWellDefined": "XP_011514968.1:p.Arg97_Phe458delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544258" }, { "coordinates": [ { "allele": "T", "end": 515, "referenceAllele": "C", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516667.2:c.202C>T" ], "proteinEffect": { "hgvs": "XP_011514969.1:p.Arg68Ter", "hgvsWellDefined": "XP_011514969.1:p.Arg68_Phe438delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544259" }, { "coordinates": [ { "allele": "T", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516669.3:c.16C>T" ], "proteinEffect": { "hgvs": "XP_011514971.1:p.Arg6Ter", "hgvsWellDefined": "XP_011514971.1:p.Arg6_Phe376delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544260" }, { "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_017012763.1:c.202C>T" ], "proteinEffect": { "hgvs": "XP_016868252.1:p.Arg68Ter", "hgvsWellDefined": "XP_016868252.1:p.Arg68_Phe438delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566278" }, { "coordinates": [ { "allele": "T", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_017012767.1:c.16C>T" ], "proteinEffect": { "hgvs": "XP_016868256.1:p.Arg6Ter", "hgvsWellDefined": "XP_016868256.1:p.Arg6_Phe367delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566279" }, { "coordinates": [ { "allele": "T", "end": 229, "referenceAllele": "C", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_024446985.1:c.166C>T" ], "proteinEffect": { "hgvs": "XP_024302753.1:p.Arg56Ter", "hgvsWellDefined": "XP_024302753.1:p.Arg56_Phe426delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580613" }, { "coordinates": [ { "allele": "T", "end": 234, "referenceAllele": "C", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_024446986.1:c.166C>T" ], "proteinEffect": { "hgvs": "XP_024302754.1:p.Arg56Ter", "hgvsWellDefined": "XP_024302754.1:p.Arg56_Phe417delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580614" }, { "@id": "http://reg.genome.network/allele/PA2825536279", "coordinates": [ { "allele": "T", "end": 324, "referenceAllele": "C", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099400.2:c.289C>T" ], "proteinEffect": { "hgvs": "NP_001092870.1:p.Arg97Ter", "hgvsWellDefined": "NP_001092870.1:p.Arg97_Leu451delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676500" }, { "@id": "http://reg.genome.network/allele/PA2825536657", "coordinates": [ { "allele": "T", "end": 324, "referenceAllele": "C", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099401.2:c.289C>T" ], "proteinEffect": { "hgvs": "NP_001092871.1:p.Arg97Ter", "hgvsWellDefined": "NP_001092871.1:p.Arg97_Pro462delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676501" }, { "@id": "http://reg.genome.network/allele/PA2826864607", "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "C", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001301139.2:c.166C>T" ], "proteinEffect": { "hgvs": "NP_001288068.1:p.Arg56Ter", "hgvsWellDefined": "NP_001288068.1:p.Arg56_Pro396delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683363" }, { "@id": "http://reg.genome.network/allele/PA2827382216", "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "C", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346713.2:c.397C>T" ], "proteinEffect": { "hgvs": "NP_001333642.1:p.Arg133Ter", "hgvsWellDefined": "NP_001333642.1:p.Arg133_Pro473delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687417" }, { "@id": "http://reg.genome.network/allele/PA2827382548", "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "C", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346715.2:c.397C>T" ], "proteinEffect": { "hgvs": "NP_001333644.1:p.Arg133Ter", "hgvsWellDefined": "NP_001333644.1:p.Arg133_Pro464delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687418" }, { "@id": "http://reg.genome.network/allele/PA2827382839", "coordinates": [ { "allele": "T", "end": 324, "referenceAllele": "C", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346717.2:c.289C>T" ], "proteinEffect": { "hgvs": "NP_001333646.1:p.Arg97Ter", "hgvsWellDefined": "NP_001333646.1:p.Arg97_Pro428delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687419" }, { "@id": "http://reg.genome.network/allele/PA2827383179", "coordinates": [ { "allele": "T", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346719.2:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001333648.1:p.Arg68Ter", "hgvsWellDefined": "NP_001333648.1:p.Arg68_Pro408delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687420" }, { "@id": "http://reg.genome.network/allele/PA2827383486", "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346720.2:c.16C>T" ], "proteinEffect": { "hgvs": "NP_001333649.1:p.Arg6Ter", "hgvsWellDefined": "NP_001333649.1:p.Arg6_Pro346delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687421" }, { "@id": "http://reg.genome.network/allele/PA2828066123", "coordinates": [ { "allele": "T", "end": 500, "referenceAllele": "C", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362807.2:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001349736.1:p.Arg68Ter", "hgvsWellDefined": "NP_001349736.1:p.Arg68_Pro399delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690548" }, { "@id": "http://reg.genome.network/allele/PA2828066403", "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362808.2:c.16C>T" ], "proteinEffect": { "hgvs": "NP_001349737.1:p.Arg6Ter", "hgvsWellDefined": "NP_001349737.1:p.Arg6_Pro337delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690549" }, { "@id": "http://reg.genome.network/allele/PA2828066712", "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "C", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362809.2:c.166C>T" ], "proteinEffect": { "hgvs": "NP_001349738.1:p.Arg56Ter", "hgvsWellDefined": "NP_001349738.1:p.Arg56_Pro387delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690550" }, { "@id": "http://reg.genome.network/allele/PA253598", "coordinates": [ { "allele": "T", "end": 324, "referenceAllele": "C", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_003919.3:c.289C>T" ], "proteinEffect": { "hgvs": "NP_003910.1:p.Arg97Ter", "hgvsWellDefined": "NP_003910.1:p.Arg97_Pro437delinsProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695983", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.289C>T" }, "RefSeq": { "hgvs": "NM_003919.3:c.289C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:p.Arg97Ter" }, "RefSeq": { "hgvs": "NP_003910.1:p.Arg97Ter" } } } } ], "type": "nucleotide" }