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"A", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643193.1:c.402C>A" ], "proteinEffect": { "hgvs": "ENSP00000496559.1:p.Tyr134Ter", "hgvsWellDefined": 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"ENSP00000494350.1:p.Tyr134_Ser454delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAspGlyValSerProCysTrpProGlyTrpSerTer" 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"ENSP00000495165.1:p.Tyr134_Gln409delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767533" }, { "coordinates": [ { "allele": "A", "end": 83, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767642" }, { "coordinates": [ { "allele": "A", "end": 509, "referenceAllele": "C", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644122.1:c.402C>A" ], "proteinEffect": { "hgvs": "ENSP00000495236.1:p.Tyr134Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767645" }, { "coordinates": [ { "allele": "A", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644201.1:c.384C>A" ], "proteinEffect": { "hgvs": "ENSP00000495044.1:p.Tyr128Ter", "hgvsWellDefined": "ENSP00000495044.1:p.Tyr128_Asn173delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAlaPheMetSerTrpLeuValGlnMetSerArgPheLeuLeuValTyrGluLysLeuLysIleHisArgIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767694" }, { "coordinates": [ { "allele": "A", "end": 764, "referenceAllele": "C", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644268.1:n.764C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767733" }, { "coordinates": [ { "allele": "A", "end": 580, "referenceAllele": "C", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644375.1:c.468C>A" ], "proteinEffect": { "hgvs": "ENSP00000494315.1:p.Tyr156Ter", "hgvsWellDefined": "ENSP00000494315.1:p.Tyr156_Leu473delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, 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"ENSP00000493981.1:p.Tyr134_Pro464delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767877" }, { "coordinates": [ { "allele": "A", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644609.1:c.402C>A" ], "proteinEffect": { "hgvs": "ENSP00000496045.1:p.Tyr134Ter", "hgvsWellDefined": "ENSP00000496045.1:p.Tyr134_Leu450delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767899" }, { "coordinates": [ { "allele": "A", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644639.1:c.402C>A" ], "proteinEffect": { "hgvs": "ENSP00000496391.1:p.Tyr134Ter", "hgvsWellDefined": "ENSP00000496391.1:p.Tyr134_Leu161delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluGlyValTyrArgTyrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767913" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "C", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644674.1:n.303C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767930" }, { "coordinates": [ { "allele": "A", "end": 574, "referenceAllele": "C", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644681.1:c.129C>A" ], "proteinEffect": { "hgvs": "ENSP00000496455.1:p.Tyr43Ter", "hgvsWellDefined": 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"ENSP00000495591.1:p.Tyr134_Pro429delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768693" }, { "coordinates": [ { "allele": "A", "end": 376, "referenceAllele": "C", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646119.1:c.376C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768710" }, { "coordinates": [ { "allele": "A", "end": 470, "referenceAllele": "C", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646137.1:c.402C>A" ], "proteinEffect": { "hgvs": "ENSP00000495199.1:p.Tyr134Ter", "hgvsWellDefined": "ENSP00000495199.1:p.Tyr134_Ile446delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGluIleIlePheSerIleThrAlaPheValAsnLeuArgArgPheSerPheAspAsnPheSerLysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768720" }, { "coordinates": [ { "allele": "A", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646265.1:c.491C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768784" }, { "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646301.1:c.375C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768804" }, { "coordinates": [ { "allele": "A", "end": 570, "referenceAllele": "C", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646434.1:c.570C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768869" }, { "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "C", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646466.1:c.*332C>A" ], "proteinEffect": { "hgvs": "ENSP00000493511.1:n.*332C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768891" }, { "coordinates": [ { "allele": "A", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646489.1:c.510C>A" ], "proteinEffect": { "hgvs": "ENSP00000496268.1:p.Tyr170Ter", "hgvsWellDefined": "ENSP00000496268.1:p.Tyr170_Pro473delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768903" }, { "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "C", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646559.1:c.*332C>A" ], "proteinEffect": { "hgvs": "ENSP00000495838.1:n.*332C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768938" }, { "coordinates": [ { "allele": "A", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646600.1:c.*332C>A" ], "proteinEffect": { "hgvs": "ENSP00000494041.1:n.*332C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768965" }, { "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646682.1:c.*209C>A" ], "proteinEffect": { "hgvs": "ENSP00000496461.1:n.*209C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769008" }, { "coordinates": [ { "allele": "A", "end": 453, "referenceAllele": "C", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646879.1:c.402C>A" ], "proteinEffect": { "hgvs": "ENSP00000495209.1:p.Tyr134Ter", "hgvsWellDefined": "ENSP00000495209.1:p.Tyr134_Cys426delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769112" }, { "coordinates": [ { "allele": "A", "end": 435, "referenceAllele": "C", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646910.1:n.435C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769133" }, { "coordinates": [ { "allele": "A", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646943.1:c.402C>A" ], "proteinEffect": { "hgvs": "ENSP00000494666.1:p.Tyr134Ter", "hgvsWellDefined": "ENSP00000494666.1:p.Tyr134_Leu485delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769152" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647018.1:c.510C>A" ], "proteinEffect": { "hgvs": "ENSP00000493722.1:p.Tyr170Ter", "hgvsWellDefined": "ENSP00000493722.1:p.Tyr170_Gln454delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769193" }, { "coordinates": [ { "allele": "A", "end": 3016, "referenceAllele": "C", "start": 3015 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647031.1:n.3016C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769199" }, { "coordinates": [ { "allele": "A", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647048.1:c.226C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769208" }, { "coordinates": [ { "allele": "A", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647096.1:c.510C>A" ], "proteinEffect": { "hgvs": "ENSP00000494192.1:p.Tyr170Ter", "hgvsWellDefined": "ENSP00000494192.1:p.Tyr170_Pro500delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgPheLysAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769230" }, { "coordinates": [ { "allele": "A", "end": 297, "referenceAllele": "C", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647110.1:c.297C>A" ], "proteinEffect": { "hgvs": "ENSP00000494738.1:p.Tyr99Ter", "hgvsWellDefined": "ENSP00000494738.1:p.Tyr99_Leu453delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerGlyAspSerProAlaSerAlaSerArgValAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769238" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "C", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647334.1:c.508C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769357" }, { "coordinates": [ { "allele": "A", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647351.1:c.402C>A" ], "proteinEffect": { "hgvs": "ENSP00000494556.1:p.Tyr134Ter", "hgvsWellDefined": "ENSP00000494556.1:p.Tyr134_Leu487delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769368" }, { "coordinates": [ { "allele": "A", "end": 1101, "referenceAllele": "C", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647533.1:n.1101C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769468" }, { "coordinates": [ { "allele": "A", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000648936.2:c.402C>A" ], "proteinEffect": { "hgvs": "ENSP00000497130.1:p.Tyr134Ter", "hgvsWellDefined": "ENSP00000497130.1:p.Tyr134_Pro437delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770269", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.402C>A" }, "RefSeq": { "hgvs": "NM_003919.3:c.402C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:p.Tyr134Ter" }, "RefSeq": { "hgvs": "NP_003910.1:p.Tyr134Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "C", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000265735.11:c.402C>A" ], "proteinEffect": { "hgvs": "ENSP00000265735.6:p.Tyr134Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS251813" }, { "coordinates": [ { "allele": "A", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000415788.2:c.510C>A" ], "proteinEffect": { "hgvs": "ENSP00000405313.2:p.Tyr170Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS284151" }, { "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "C", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000425444.1:c.*332C>A" ], "proteinEffect": { "hgvs": "ENSP00000391892.1:n.*332C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS288762" }, { "coordinates": [ { "allele": "A", "end": 402, "referenceAllele": "C", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000428696.6:c.402C>A" ], "proteinEffect": { "hgvs": "ENSP00000397536.2:p.Tyr134Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS290318" }, { "coordinates": [ { "allele": "A", "end": 347, "referenceAllele": "C", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000437425.6:c.279C>A" ], "proteinEffect": { "hgvs": "ENSP00000394061.2:p.Tyr93Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS294460" }, { "coordinates": [ { "allele": "A", "end": 428, "referenceAllele": "C", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000445866.6:c.402C>A" ], "proteinEffect": { "hgvs": "ENSP00000398930.2:p.Tyr134Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS298479" }, { "coordinates": [ { "allele": "A", "end": 470, "referenceAllele": "C", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000447873.5:c.402C>A" ], "proteinEffect": { "hgvs": "ENSP00000388734.1:p.Tyr134Ter", "hgvsWellDefined": 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"coordinates": [ { "allele": "A", "end": 601, "referenceAllele": "C", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000450385.5:c.*440C>A" ], "proteinEffect": { "hgvs": "ENSP00000398344.1:n.*440C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS300679" }, { "@id": "http://reg.genome.network/allele/PA2825536312", "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "C", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099400.1:c.402C>A" ], "proteinEffect": { "hgvs": "NP_001092870.1:p.Tyr134Ter", "hgvsWellDefined": "NP_001092870.1:p.Tyr134_Leu451delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010734" }, { "@id": "http://reg.genome.network/allele/PA2825536690", "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "C", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099401.1:c.402C>A" ], "proteinEffect": { "hgvs": "NP_001092871.1:p.Tyr134Ter", "hgvsWellDefined": "NP_001092871.1:p.Tyr134_Pro462delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010735" }, { "@id": "http://reg.genome.network/allele/PA2826864682", "coordinates": [ { "allele": "A", "end": 390, "referenceAllele": "C", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001301139.1:c.279C>A" ], "proteinEffect": { "hgvs": "NP_001288068.1:p.Tyr93Ter", "hgvsWellDefined": "NP_001288068.1:p.Tyr93_Pro396delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025125" }, { "@id": "http://reg.genome.network/allele/PA658665576", "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "C", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_003919.2:c.402C>A" ], "proteinEffect": { "hgvs": "NP_003910.1:p.Tyr134Ter", "hgvsWellDefined": "NP_003910.1:p.Tyr134_Pro437delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029129" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_005250675.3:c.510C>A" ], "proteinEffect": { "hgvs": "XP_005250732.1:p.Tyr170Ter", "hgvsWellDefined": "XP_005250732.1:p.Tyr170_Pro473delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059257" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_005250677.3:c.510C>A" ], "proteinEffect": { "hgvs": "XP_005250734.1:p.Tyr170Ter", "hgvsWellDefined": "XP_005250734.1:p.Tyr170_Pro464delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059258" }, { "coordinates": [ { "allele": "T", "end": 2192, "endIntronDirection": "-", "endIntronOffset": 7929, "referenceAllele": "G", "start": 2192, "startIntronDirection": "-", "startIntronOffset": 7930 } ], "gene": "http://reg.genome.network/gene/GN016014", "geneNCBI_id": 64921, "geneSymbol": "CASD1", "hgvs": [ "XM_011516495.1:c.2128-7930G>T" ], "proteinEffect": { "hgvs": "XP_011514797.1:n.2128-7930G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS083696" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516663.1:c.510C>A" ], "proteinEffect": { "hgvs": "XP_011514965.1:p.Tyr170Ter", "hgvsWellDefined": "XP_011514965.1:p.Tyr170_Phe503delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083863" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516664.1:c.510C>A" ], "proteinEffect": { "hgvs": "XP_011514966.1:p.Tyr170Ter", "hgvsWellDefined": "XP_011514966.1:p.Tyr170_Phe494delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083864" }, { "coordinates": [ { "allele": "A", "end": 509, "referenceAllele": "C", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516665.1:c.402C>A" ], "proteinEffect": { "hgvs": "XP_011514967.1:p.Tyr134Ter", "hgvsWellDefined": "XP_011514967.1:p.Tyr134_Phe467delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083865" }, { "coordinates": [ { "allele": "A", "end": 509, "referenceAllele": "C", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516666.1:c.402C>A" ], "proteinEffect": { "hgvs": "XP_011514968.1:p.Tyr134Ter", "hgvsWellDefined": "XP_011514968.1:p.Tyr134_Phe458delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083866" }, { "coordinates": [ { "allele": "A", "end": 602, "referenceAllele": "C", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516667.1:c.315C>A" ], "proteinEffect": { "hgvs": "XP_011514969.1:p.Tyr105Ter", "hgvsWellDefined": "XP_011514969.1:p.Tyr105_Phe438delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083867" }, { "coordinates": [ { "allele": "A", "end": 352, "referenceAllele": "C", "start": 351 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516668.1:c.279C>A" ], "proteinEffect": { "hgvs": "XP_011514970.1:p.Tyr93Ter", "hgvsWellDefined": "XP_011514970.1:p.Tyr93_Phe426delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083868" }, { "coordinates": [ { "allele": "A", "end": 534, "referenceAllele": "C", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516669.1:c.129C>A" ], "proteinEffect": { "hgvs": "XP_011514971.1:p.Tyr43Ter", "hgvsWellDefined": "XP_011514971.1:p.Tyr43_Phe376delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083869" }, { "@id": "http://reg.genome.network/allele/PA2827382249", "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "C", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346713.1:c.510C>A" ], "proteinEffect": { "hgvs": "NP_001333642.1:p.Tyr170Ter", "hgvsWellDefined": "NP_001333642.1:p.Tyr170_Pro473delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517651" }, { "@id": "http://reg.genome.network/allele/PA2827382581", "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "C", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346715.1:c.510C>A" ], "proteinEffect": { "hgvs": "NP_001333644.1:p.Tyr170Ter", "hgvsWellDefined": "NP_001333644.1:p.Tyr170_Pro464delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517653" }, { "@id": "http://reg.genome.network/allele/PA2827382872", "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "C", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346717.1:c.402C>A" ], "proteinEffect": { "hgvs": "NP_001333646.1:p.Tyr134Ter", "hgvsWellDefined": "NP_001333646.1:p.Tyr134_Pro428delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517655" }, { "@id": "http://reg.genome.network/allele/PA2827383212", "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346719.1:c.315C>A" ], "proteinEffect": { "hgvs": "NP_001333648.1:p.Tyr105Ter", "hgvsWellDefined": "NP_001333648.1:p.Tyr105_Pro408delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517656" }, { "@id": "http://reg.genome.network/allele/PA2827383519", "coordinates": [ { "allele": "A", "end": 575, "referenceAllele": "C", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346720.1:c.129C>A" ], "proteinEffect": { "hgvs": "NP_001333649.1:p.Tyr43Ter", "hgvsWellDefined": "NP_001333649.1:p.Tyr43_Pro346delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517657" }, { "@id": "http://reg.genome.network/allele/PA2828066139", "coordinates": [ { "allele": "A", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362807.1:c.315C>A" ], "proteinEffect": { "hgvs": "NP_001349736.1:p.Tyr105Ter", "hgvsWellDefined": "NP_001349736.1:p.Tyr105_Pro399delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523075" }, { "@id": "http://reg.genome.network/allele/PA2828066433", "coordinates": [ { "allele": "A", "end": 575, "referenceAllele": "C", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362808.1:c.129C>A" ], "proteinEffect": { "hgvs": "NP_001349737.1:p.Tyr43Ter", "hgvsWellDefined": "NP_001349737.1:p.Tyr43_Pro337delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523076" }, { "@id": "http://reg.genome.network/allele/PA916043501", "coordinates": [ { "allele": "A", "end": 390, "referenceAllele": "C", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362809.1:c.279C>A" ], "proteinEffect": { "hgvs": "NP_001349738.1:p.Tyr93Ter", "hgvsWellDefined": "NP_001349738.1:p.Tyr93_Pro387delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523077" }, { "coordinates": [ { "allele": "T", "end": 2192, "endIntronDirection": "-", "endIntronOffset": 7929, "referenceAllele": "G", "start": 2192, "startIntronDirection": "-", "startIntronOffset": 7930 } ], "gene": "http://reg.genome.network/gene/GN016014", "geneNCBI_id": 64921, "geneSymbol": "CASD1", "hgvs": [ "XM_011516495.2:c.2128-7930G>T" ], "proteinEffect": { "hgvs": "XP_011514797.1:n.2128-7930G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS544191" }, { "coordinates": [ { "allele": "A", "end": 596, "referenceAllele": "C", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516663.2:c.510C>A" ], "proteinEffect": { "hgvs": "XP_011514965.1:p.Tyr170Ter", "hgvsWellDefined": "XP_011514965.1:p.Tyr170_Phe503delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544255" }, { "coordinates": [ { "allele": "A", "end": 596, "referenceAllele": "C", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516664.2:c.510C>A" ], "proteinEffect": { "hgvs": "XP_011514966.1:p.Tyr170Ter", "hgvsWellDefined": "XP_011514966.1:p.Tyr170_Phe494delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544256" }, { "coordinates": [ { "allele": "A", "end": 509, "referenceAllele": "C", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516665.3:c.402C>A" ], "proteinEffect": { "hgvs": "XP_011514967.1:p.Tyr134Ter", "hgvsWellDefined": "XP_011514967.1:p.Tyr134_Phe467delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544257" }, { "coordinates": [ { "allele": "A", "end": 509, "referenceAllele": "C", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516666.3:c.402C>A" ], "proteinEffect": { "hgvs": "XP_011514968.1:p.Tyr134Ter", "hgvsWellDefined": "XP_011514968.1:p.Tyr134_Phe458delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544258" }, { "coordinates": [ { "allele": "A", "end": 628, "referenceAllele": "C", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516667.2:c.315C>A" ], "proteinEffect": { "hgvs": "XP_011514969.1:p.Tyr105Ter", "hgvsWellDefined": "XP_011514969.1:p.Tyr105_Phe438delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544259" }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516669.3:c.129C>A" ], "proteinEffect": { "hgvs": "XP_011514971.1:p.Tyr43Ter", "hgvsWellDefined": "XP_011514971.1:p.Tyr43_Phe376delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544260" }, { "coordinates": [ { "allele": "A", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_017012763.1:c.315C>A" ], "proteinEffect": { "hgvs": "XP_016868252.1:p.Tyr105Ter", "hgvsWellDefined": "XP_016868252.1:p.Tyr105_Phe438delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566278" }, { "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_017012767.1:c.129C>A" ], "proteinEffect": { "hgvs": "XP_016868256.1:p.Tyr43Ter", "hgvsWellDefined": "XP_016868256.1:p.Tyr43_Phe367delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566279" }, { "coordinates": [ { "allele": "A", "end": 342, "referenceAllele": "C", "start": 341 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_024446985.1:c.279C>A" ], "proteinEffect": { "hgvs": "XP_024302753.1:p.Tyr93Ter", "hgvsWellDefined": "XP_024302753.1:p.Tyr93_Phe426delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580613" }, { "coordinates": [ { "allele": "A", "end": 347, "referenceAllele": "C", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_024446986.1:c.279C>A" ], "proteinEffect": { "hgvs": "XP_024302754.1:p.Tyr93Ter", "hgvsWellDefined": "XP_024302754.1:p.Tyr93_Phe417delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580614" }, { "@id": "http://reg.genome.network/allele/PA2825536312", "coordinates": [ { "allele": "A", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099400.2:c.402C>A" ], "proteinEffect": { "hgvs": "NP_001092870.1:p.Tyr134Ter", "hgvsWellDefined": "NP_001092870.1:p.Tyr134_Leu451delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676500" }, { "@id": "http://reg.genome.network/allele/PA2825536690", "coordinates": [ { "allele": "A", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099401.2:c.402C>A" ], "proteinEffect": { "hgvs": "NP_001092871.1:p.Tyr134Ter", "hgvsWellDefined": "NP_001092871.1:p.Tyr134_Pro462delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676501" }, { "@id": "http://reg.genome.network/allele/PA2826864682", "coordinates": [ { "allele": "A", "end": 314, "referenceAllele": "C", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001301139.2:c.279C>A" ], "proteinEffect": { "hgvs": "NP_001288068.1:p.Tyr93Ter", "hgvsWellDefined": "NP_001288068.1:p.Tyr93_Pro396delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683363" }, { "@id": "http://reg.genome.network/allele/PA2827382249", "coordinates": [ { "allele": "A", "end": 545, "referenceAllele": "C", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346713.2:c.510C>A" ], "proteinEffect": { "hgvs": "NP_001333642.1:p.Tyr170Ter", "hgvsWellDefined": "NP_001333642.1:p.Tyr170_Pro473delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687417" }, { "@id": "http://reg.genome.network/allele/PA2827382581", "coordinates": [ { "allele": "A", "end": 545, "referenceAllele": "C", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346715.2:c.510C>A" ], "proteinEffect": { "hgvs": "NP_001333644.1:p.Tyr170Ter", "hgvsWellDefined": "NP_001333644.1:p.Tyr170_Pro464delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687418" }, { "@id": "http://reg.genome.network/allele/PA2827382872", "coordinates": [ { "allele": "A", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346717.2:c.402C>A" ], "proteinEffect": { "hgvs": "NP_001333646.1:p.Tyr134Ter", "hgvsWellDefined": "NP_001333646.1:p.Tyr134_Pro428delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687419" }, { "@id": "http://reg.genome.network/allele/PA2827383212", "coordinates": [ { "allele": "A", "end": 607, "referenceAllele": "C", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346719.2:c.315C>A" ], "proteinEffect": { "hgvs": "NP_001333648.1:p.Tyr105Ter", "hgvsWellDefined": "NP_001333648.1:p.Tyr105_Pro408delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687420" }, { "@id": "http://reg.genome.network/allele/PA2827383519", "coordinates": [ { "allele": "A", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346720.2:c.129C>A" ], "proteinEffect": { "hgvs": "NP_001333649.1:p.Tyr43Ter", "hgvsWellDefined": "NP_001333649.1:p.Tyr43_Pro346delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687421" }, { "@id": "http://reg.genome.network/allele/PA2828066139", "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362807.2:c.315C>A" ], "proteinEffect": { "hgvs": "NP_001349736.1:p.Tyr105Ter", "hgvsWellDefined": "NP_001349736.1:p.Tyr105_Pro399delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690548" }, { "@id": "http://reg.genome.network/allele/PA2828066433", "coordinates": [ { "allele": "A", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362808.2:c.129C>A" ], "proteinEffect": { "hgvs": "NP_001349737.1:p.Tyr43Ter", "hgvsWellDefined": "NP_001349737.1:p.Tyr43_Pro337delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690549" }, { "@id": "http://reg.genome.network/allele/PA916043501", "coordinates": [ { "allele": "A", "end": 314, "referenceAllele": "C", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362809.2:c.279C>A" ], "proteinEffect": { "hgvs": "NP_001349738.1:p.Tyr93Ter", "hgvsWellDefined": "NP_001349738.1:p.Tyr93_Pro387delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690550" }, { "@id": "http://reg.genome.network/allele/PA658665576", "coordinates": [ { "allele": "A", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_003919.3:c.402C>A" ], "proteinEffect": { "hgvs": "NP_003910.1:p.Tyr134Ter", "hgvsWellDefined": "NP_003910.1:p.Tyr134_Pro437delinsAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695983", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.402C>A" }, "RefSeq": { "hgvs": "NM_003919.3:c.402C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:p.Tyr134Ter" }, "RefSeq": { "hgvs": "NP_003910.1:p.Tyr134Ter" } } } } ], "type": "nucleotide" }