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"ENSP00000496237.1:p.Arg102_Leu451delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766996" }, { "coordinates": [ { "allele": "T", "end": 251, "referenceAllele": "C", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643020.1:c.251C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767045" }, { "coordinates": [ { "allele": "T", "end": 358, "referenceAllele": "C", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643041.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000495311.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000495311.1:p.Arg102_Gln370delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProGluGluGlnMetLysArgProPheIleGlnValPheGlnAsnLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767056" }, { "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643128.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000496678.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000496678.1:p.Arg102_Gln418delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767106" }, { "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643193.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000496559.1:p.Arg102Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767145" }, { "coordinates": [ { "allele": "T", "end": 159, "endIntronDirection": "-", "endIntronOffset": 4890, "referenceAllele": "C", "start": 159, "startIntronDirection": "-", "startIntronOffset": 4891 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643206.1:c.110-4891C>T" ], "proteinEffect": { "hgvs": "ENSP00000496172.1:n.110-4891C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767151" }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643272.1:c.412C>T" ], "proteinEffect": { "hgvs": "ENSP00000494488.1:p.Arg138Ter", "hgvsWellDefined": "ENSP00000494488.1:p.Arg138_Pro464delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767189" }, { "coordinates": [ { "allele": "T", "end": 1608, "referenceAllele": "C", "start": 1607 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643358.1:n.1608C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767240" }, { "coordinates": [ { "allele": "T", "end": 166, "referenceAllele": "C", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643368.1:n.166C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767244" }, { "coordinates": [ { "allele": "T", "end": 548, "referenceAllele": "C", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643605.1:c.*291C>T" ], "proteinEffect": { "hgvs": "ENSP00000496480.1:n.*291C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767370" }, { "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643610.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000494350.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000494350.1:p.Arg102_Ser454delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAspGlyValSerProCysTrpProGlyTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767374" }, { "coordinates": [ { "allele": "T", "end": 372, "referenceAllele": "C", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643714.1:n.372C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767431" }, { "coordinates": [ { "allele": "T", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643903.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000495165.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000495165.1:p.Arg102_Gln409delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767533" }, { "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644087.1:c.*234C>T" ], "proteinEffect": { "hgvs": "ENSP00000495249.1:n.*234C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767625" }, { "coordinates": [ { "allele": "T", "end": 353, "referenceAllele": "C", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644116.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000495276.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000495276.1:p.Arg102_Leu476delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767642" }, { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644122.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000495236.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000495236.1:p.Arg102_Ile482delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGluIleIlePheSerIleThrAlaPheValAsnLeuArgArgPheSerPheAspAsnPheSerLysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767645" }, { "coordinates": [ { "allele": "T", "end": 286, "referenceAllele": "C", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644201.1:c.286C>T" ], "proteinEffect": { "hgvs": "ENSP00000495044.1:p.Arg96Ter", "hgvsWellDefined": "ENSP00000495044.1:p.Arg96_Asn173delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAlaPheMetSerTrpLeuValGlnMetSerArgPheLeuLeuValTyrGluLysLeuLysIleHisArgIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767694" }, { "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644375.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000494315.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000494315.1:p.Arg102_Leu473delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluCysHisLeuGlnLeuGlnSerLeuProGluAlaLeuSerSerHisCysProGluLysGluTyrPheIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767787" }, { "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "C", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644551.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000493981.1:p.Arg102Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767877" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "C", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644609.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000496045.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000496045.1:p.Arg102_Leu450delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767899" }, { "coordinates": [ { "allele": "T", "end": 331, "referenceAllele": "C", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644639.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000496391.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000496391.1:p.Arg102_Leu161delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluGlyValTyrArgTyrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767913" }, { "coordinates": [ { "allele": "T", "end": 205, "referenceAllele": "C", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644674.1:n.205C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767930" }, { "coordinates": [ { "allele": "T", 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767936" }, { "coordinates": [ { "allele": "T", "end": 257, "referenceAllele": "C", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644682.1:c.257C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767937" }, { "coordinates": [ { "allele": "T", "end": 413, "referenceAllele": "C", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644816.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000494898.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000494898.1:p.Arg102_Leu460delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768014" }, { "coordinates": [ { "allele": "T", "end": 173, "endIntronDirection": "+", "endIntronOffset": 1431, "referenceAllele": "C", "start": 173, "startIntronDirection": "+", "startIntronOffset": 1430 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644924.1:n.173+1431C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768078" }, { "coordinates": [ { "allele": "T", "end": 25, "referenceAllele": "C", "start": 24 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644966.1:c.25C>T" ], "proteinEffect": { "hgvs": "ENSP00000495105.1:p.Arg9Ter", "hgvsWellDefined": "ENSP00000495105.1:p.Arg9_Leu105delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerGlyAspSerProAlaSerAlaSerArgValGlyValTyrArgTyrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768095" }, { "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645101.1:c.412C>T" ], "proteinEffect": { "hgvs": "ENSP00000494975.1:p.Arg138Ter", "hgvsWellDefined": "ENSP00000494975.1:p.Arg138_Pro491delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768173" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645109.1:c.412C>T" ], "proteinEffect": { "hgvs": "ENSP00000495931.1:p.Arg138Ter", "hgvsWellDefined": "ENSP00000495931.1:p.Arg138_Gln454delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768178" }, { "coordinates": [ { "allele": "T", "end": 184, "referenceAllele": "C", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645262.1:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000494164.1:p.Arg61Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS768254" }, { "coordinates": [ { "allele": "T", "end": 358, "referenceAllele": "C", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645390.1:n.358C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768325" }, { "coordinates": [ { "allele": "T", "end": 302, "referenceAllele": "C", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645445.1:c.302C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768356" }, { "coordinates": [ { "allele": "T", "end": 390, "referenceAllele": "C", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645535.1:c.31C>T" ], "proteinEffect": { "hgvs": "ENSP00000493984.1:p.Arg11Ter", "hgvsWellDefined": "ENSP00000493984.1:p.Arg11_Leu360delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768410" }, { "coordinates": [ { "allele": "T", "end": 372, "referenceAllele": "C", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645579.1:n.372C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768441" }, { "coordinates": [ { "allele": "T", "end": 330, "referenceAllele": "C", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645725.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000495480.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000495480.1:p.Arg102_Pro455delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768519" }, { "coordinates": [ { "allele": "T", "end": 273, "referenceAllele": "C", "start": 272 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645920.1:c.*111C>T" ], "proteinEffect": { "hgvs": "ENSP00000494490.1:n.*111C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768609" }, { "coordinates": [ { "allele": "T", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646098.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000495591.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000495591.1:p.Arg102_Pro429delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768693" }, { "coordinates": [ { "allele": "T", "end": 278, "referenceAllele": "C", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646119.1:c.278C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768710" }, { "coordinates": [ { "allele": "T", "end": 372, "referenceAllele": "C", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646137.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000495199.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000495199.1:p.Arg102_Ile446delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGluIleIlePheSerIleThrAlaPheValAsnLeuArgArgPheSerPheAspAsnPheSerLysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768720" }, { "coordinates": [ { "allele": "T", "end": 393, "referenceAllele": "C", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646265.1:c.393C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768784" }, { "coordinates": [ { "allele": "T", "end": 277, "referenceAllele": "C", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646301.1:c.277C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768804" }, { "coordinates": [ { "allele": "T", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646434.1:c.472C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768869" }, { "coordinates": [ { "allele": "T", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646466.1:c.*234C>T" ], "proteinEffect": { "hgvs": "ENSP00000493511.1:n.*234C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768891" }, { "coordinates": [ { "allele": "T", "end": 454, "referenceAllele": "C", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646489.1:c.412C>T" ], "proteinEffect": { "hgvs": "ENSP00000496268.1:p.Arg138Ter", "hgvsWellDefined": "ENSP00000496268.1:p.Arg138_Pro473delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768903" }, { "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646559.1:c.*234C>T" ], "proteinEffect": { "hgvs": "ENSP00000495838.1:n.*234C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768938" }, { "coordinates": [ { "allele": "T", "end": 454, "referenceAllele": "C", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646600.1:c.*234C>T" ], "proteinEffect": { "hgvs": "ENSP00000494041.1:n.*234C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768965" }, { "coordinates": [ { "allele": "T", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646682.1:c.*111C>T" ], "proteinEffect": { "hgvs": "ENSP00000496461.1:n.*111C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769008" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "C", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646761.1:n.248C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769054" }, { "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646879.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000495209.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000495209.1:p.Arg102_Cys426delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769112" }, { "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "C", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646910.1:n.337C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769133" }, { "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646943.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000494666.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000494666.1:p.Arg102_Leu485delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769152" }, { "coordinates": [ { "allele": "T", "end": 466, "referenceAllele": "C", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647018.1:c.412C>T" ], "proteinEffect": { "hgvs": "ENSP00000493722.1:p.Arg138Ter", "hgvsWellDefined": "ENSP00000493722.1:p.Arg138_Gln454delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769193" }, { "coordinates": [ { "allele": "T", "end": 128, "referenceAllele": "C", "start": 127 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647048.1:c.128C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769208" }, { "coordinates": [ { "allele": "T", "end": 430, "referenceAllele": "C", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647096.1:c.412C>T" ], "proteinEffect": { "hgvs": "ENSP00000494192.1:p.Arg138Ter", "hgvsWellDefined": "ENSP00000494192.1:p.Arg138_Pro500delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgPheLysAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769230" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "C", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647110.1:c.199C>T" ], "proteinEffect": { "hgvs": "ENSP00000494738.1:p.Arg67Ter", "hgvsWellDefined": "ENSP00000494738.1:p.Arg67_Leu453delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerGlyAspSerProAlaSerAlaSerArgValAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769238" }, { "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647334.1:c.410C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769357" }, { "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647351.1:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000494556.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000494556.1:p.Arg102_Leu487delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769368" }, { "coordinates": [ { "allele": "T", "end": 339, "referenceAllele": "C", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000648936.2:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000497130.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000497130.1:p.Arg102_Pro437delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770269", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.304C>T" }, "RefSeq": { "hgvs": "NM_003919.3:c.304C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:p.Arg102Ter" }, "RefSeq": { "hgvs": "NP_003910.1:p.Arg102Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000265735.11:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000265735.6:p.Arg102Ter", "hgvsWellDefined": "ENSP00000265735.6:p.Arg102_Pro437delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251813" }, { "coordinates": [ { "allele": "T", "end": 500, "referenceAllele": "C", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000415788.2:c.412C>T" ], "proteinEffect": { "hgvs": "ENSP00000405313.2:p.Arg138Ter", "hgvsWellDefined": "ENSP00000405313.2:p.Arg138_Cys471delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS284151" }, { "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000425444.1:c.*234C>T" ], "proteinEffect": { "hgvs": "ENSP00000391892.1:n.*234C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS288762" }, { "coordinates": [ { "allele": "T", "end": 304, "referenceAllele": "C", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000428696.6:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000397536.2:p.Arg102Ter", "hgvsWellDefined": "ENSP00000397536.2:p.Arg102_Leu451delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290318" }, { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "C", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000437425.6:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000394061.2:p.Arg61Ter", "hgvsWellDefined": "ENSP00000394061.2:p.Arg61_Pro396delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294460" }, { "coordinates": [ { "allele": "T", "end": 330, "referenceAllele": "C", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000445866.6:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000398930.2:p.Arg102Ter", "hgvsWellDefined": "ENSP00000398930.2:p.Arg102_Pro462delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS298479" }, { "coordinates": [ { "allele": "T", "end": 372, "referenceAllele": "C", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000447873.5:c.304C>T" ], "proteinEffect": { "hgvs": "ENSP00000388734.1:p.Arg102Ter", "hgvsWellDefined": "ENSP00000388734.1:p.Arg102_Pro428delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299469" }, { "coordinates": [ { "allele": "T", "end": 503, "referenceAllele": "C", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000450385.5:c.*342C>T" ], "proteinEffect": { "hgvs": "ENSP00000398344.1:n.*342C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS300679" }, { "@id": "http://reg.genome.network/allele/PA2825536285", "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099400.1:c.304C>T" ], "proteinEffect": { "hgvs": "NP_001092870.1:p.Arg102Ter", "hgvsWellDefined": "NP_001092870.1:p.Arg102_Leu451delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010734" }, { "@id": "http://reg.genome.network/allele/PA2825536666", "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099401.1:c.304C>T" ], "proteinEffect": { "hgvs": "NP_001092871.1:p.Arg102Ter", "hgvsWellDefined": "NP_001092871.1:p.Arg102_Pro462delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010735" }, { "@id": "http://reg.genome.network/allele/PA2826864627", "coordinates": [ { "allele": "T", "end": 292, "referenceAllele": "C", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001301139.1:c.181C>T" ], "proteinEffect": { "hgvs": "NP_001288068.1:p.Arg61Ter", "hgvsWellDefined": "NP_001288068.1:p.Arg61_Pro396delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025125" }, { "@id": "http://reg.genome.network/allele/PA253600", "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_003919.2:c.304C>T" ], "proteinEffect": { "hgvs": "NP_003910.1:p.Arg102Ter", "hgvsWellDefined": "NP_003910.1:p.Arg102_Pro437delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029129" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_005250675.3:c.412C>T" ], "proteinEffect": { "hgvs": "XP_005250732.1:p.Arg138Ter", "hgvsWellDefined": "XP_005250732.1:p.Arg138_Pro473delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059257" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_005250677.3:c.412C>T" ], "proteinEffect": { "hgvs": "XP_005250734.1:p.Arg138Ter", "hgvsWellDefined": "XP_005250734.1:p.Arg138_Pro464delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059258" }, { "coordinates": [ { "allele": "A", "end": 2192, "endIntronDirection": "-", "endIntronOffset": 3027, "referenceAllele": "G", "start": 2192, "startIntronDirection": "-", "startIntronOffset": 3028 } ], "gene": "http://reg.genome.network/gene/GN016014", "geneNCBI_id": 64921, "geneSymbol": "CASD1", "hgvs": [ "XM_011516495.1:c.2128-3028G>A" ], "proteinEffect": { "hgvs": "XP_011514797.1:n.2128-3028G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS083696" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516663.1:c.412C>T" ], "proteinEffect": { "hgvs": "XP_011514965.1:p.Arg138Ter", "hgvsWellDefined": "XP_011514965.1:p.Arg138_Phe503delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083863" }, { "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516664.1:c.412C>T" ], "proteinEffect": { "hgvs": "XP_011514966.1:p.Arg138Ter", "hgvsWellDefined": "XP_011514966.1:p.Arg138_Phe494delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083864" }, { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516665.1:c.304C>T" ], "proteinEffect": { "hgvs": "XP_011514967.1:p.Arg102Ter", "hgvsWellDefined": "XP_011514967.1:p.Arg102_Phe467delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083865" }, { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516666.1:c.304C>T" ], "proteinEffect": { "hgvs": "XP_011514968.1:p.Arg102Ter", "hgvsWellDefined": "XP_011514968.1:p.Arg102_Phe458delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083866" }, { "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "C", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516667.1:c.217C>T" ], "proteinEffect": { "hgvs": "XP_011514969.1:p.Arg73Ter", "hgvsWellDefined": "XP_011514969.1:p.Arg73_Phe438delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083867" }, { "coordinates": [ { "allele": "T", "end": 254, "referenceAllele": "C", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516668.1:c.181C>T" ], "proteinEffect": { "hgvs": "XP_011514970.1:p.Arg61Ter", "hgvsWellDefined": "XP_011514970.1:p.Arg61_Phe426delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083868" }, { "coordinates": [ { "allele": "T", "end": 436, "referenceAllele": "C", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516669.1:c.31C>T" ], "proteinEffect": { "hgvs": "XP_011514971.1:p.Arg11Ter", "hgvsWellDefined": "XP_011514971.1:p.Arg11_Phe376delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083869" }, { "@id": "http://reg.genome.network/allele/PA2827382223", "coordinates": [ { "allele": "T", "end": 523, "referenceAllele": "C", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346713.1:c.412C>T" ], "proteinEffect": { "hgvs": "NP_001333642.1:p.Arg138Ter", "hgvsWellDefined": "NP_001333642.1:p.Arg138_Pro473delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517651" }, { "@id": "http://reg.genome.network/allele/PA2827382556", "coordinates": [ { "allele": "T", "end": 523, "referenceAllele": "C", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346715.1:c.412C>T" ], "proteinEffect": { "hgvs": "NP_001333644.1:p.Arg138Ter", "hgvsWellDefined": "NP_001333644.1:p.Arg138_Pro464delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517653" }, { "@id": "http://reg.genome.network/allele/PA2827382847", "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346717.1:c.304C>T" ], "proteinEffect": { "hgvs": "NP_001333646.1:p.Arg102Ter", "hgvsWellDefined": "NP_001333646.1:p.Arg102_Pro428delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517655" }, { "@id": "http://reg.genome.network/allele/PA2827383186", "coordinates": [ { "allele": "T", "end": 585, "referenceAllele": "C", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346719.1:c.217C>T" ], "proteinEffect": { "hgvs": "NP_001333648.1:p.Arg73Ter", "hgvsWellDefined": "NP_001333648.1:p.Arg73_Pro408delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517656" }, { "@id": "http://reg.genome.network/allele/PA2827383493", "coordinates": [ { "allele": "T", "end": 477, "referenceAllele": "C", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346720.1:c.31C>T" ], "proteinEffect": { "hgvs": "NP_001333649.1:p.Arg11Ter", "hgvsWellDefined": "NP_001333649.1:p.Arg11_Pro346delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517657" }, { "@id": "http://reg.genome.network/allele/PA916043483", "coordinates": [ { "allele": "T", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362807.1:c.217C>T" ], "proteinEffect": { "hgvs": "NP_001349736.1:p.Arg73Ter", "hgvsWellDefined": "NP_001349736.1:p.Arg73_Pro399delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523075" }, { "@id": "http://reg.genome.network/allele/PA2828066407", "coordinates": [ { "allele": "T", "end": 477, "referenceAllele": "C", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362808.1:c.31C>T" ], "proteinEffect": { "hgvs": "NP_001349737.1:p.Arg11Ter", "hgvsWellDefined": "NP_001349737.1:p.Arg11_Pro337delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523076" }, { "@id": "http://reg.genome.network/allele/PA2828066718", "coordinates": [ { "allele": "T", "end": 292, "referenceAllele": "C", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362809.1:c.181C>T" ], "proteinEffect": { "hgvs": "NP_001349738.1:p.Arg61Ter", "hgvsWellDefined": "NP_001349738.1:p.Arg61_Pro387delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523077" }, { "coordinates": [ { "allele": "A", "end": 2192, "endIntronDirection": "-", "endIntronOffset": 3027, "referenceAllele": "G", "start": 2192, "startIntronDirection": "-", "startIntronOffset": 3028 } ], "gene": "http://reg.genome.network/gene/GN016014", "geneNCBI_id": 64921, "geneSymbol": "CASD1", "hgvs": [ "XM_011516495.2:c.2128-3028G>A" ], "proteinEffect": { "hgvs": "XP_011514797.1:n.2128-3028G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS544191" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516663.2:c.412C>T" ], "proteinEffect": { "hgvs": "XP_011514965.1:p.Arg138Ter", "hgvsWellDefined": "XP_011514965.1:p.Arg138_Phe503delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544255" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516664.2:c.412C>T" ], "proteinEffect": { "hgvs": "XP_011514966.1:p.Arg138Ter", "hgvsWellDefined": "XP_011514966.1:p.Arg138_Phe494delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544256" }, { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516665.3:c.304C>T" ], "proteinEffect": { "hgvs": "XP_011514967.1:p.Arg102Ter", "hgvsWellDefined": "XP_011514967.1:p.Arg102_Phe467delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544257" }, { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516666.3:c.304C>T" ], "proteinEffect": { "hgvs": "XP_011514968.1:p.Arg102Ter", "hgvsWellDefined": "XP_011514968.1:p.Arg102_Phe458delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544258" }, { "coordinates": [ { "allele": "T", "end": 530, "referenceAllele": "C", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516667.2:c.217C>T" ], "proteinEffect": { "hgvs": "XP_011514969.1:p.Arg73Ter", "hgvsWellDefined": "XP_011514969.1:p.Arg73_Phe438delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544259" }, { "coordinates": [ { "allele": "T", "end": 435, "referenceAllele": "C", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516669.3:c.31C>T" ], "proteinEffect": { "hgvs": "XP_011514971.1:p.Arg11Ter", "hgvsWellDefined": "XP_011514971.1:p.Arg11_Phe376delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544260" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "C", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_017012763.1:c.217C>T" ], "proteinEffect": { "hgvs": "XP_016868252.1:p.Arg73Ter", "hgvsWellDefined": "XP_016868252.1:p.Arg73_Phe438delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566278" }, { "coordinates": [ { "allele": "T", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_017012767.1:c.31C>T" ], "proteinEffect": { "hgvs": "XP_016868256.1:p.Arg11Ter", "hgvsWellDefined": "XP_016868256.1:p.Arg11_Phe367delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566279" }, { "coordinates": [ { "allele": "T", "end": 244, "referenceAllele": "C", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_024446985.1:c.181C>T" ], "proteinEffect": { "hgvs": "XP_024302753.1:p.Arg61Ter", "hgvsWellDefined": "XP_024302753.1:p.Arg61_Phe426delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580613" }, { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "C", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_024446986.1:c.181C>T" ], "proteinEffect": { "hgvs": "XP_024302754.1:p.Arg61Ter", "hgvsWellDefined": "XP_024302754.1:p.Arg61_Phe417delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580614" }, { "@id": "http://reg.genome.network/allele/PA2825536285", "coordinates": [ { "allele": "T", "end": 339, "referenceAllele": "C", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099400.2:c.304C>T" ], "proteinEffect": { "hgvs": "NP_001092870.1:p.Arg102Ter", "hgvsWellDefined": "NP_001092870.1:p.Arg102_Leu451delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676500" }, { "@id": "http://reg.genome.network/allele/PA2825536666", "coordinates": [ { "allele": "T", "end": 339, "referenceAllele": "C", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099401.2:c.304C>T" ], "proteinEffect": { "hgvs": "NP_001092871.1:p.Arg102Ter", "hgvsWellDefined": "NP_001092871.1:p.Arg102_Pro462delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676501" }, { "@id": "http://reg.genome.network/allele/PA2826864627", "coordinates": [ { "allele": "T", "end": 216, "referenceAllele": "C", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001301139.2:c.181C>T" ], "proteinEffect": { "hgvs": "NP_001288068.1:p.Arg61Ter", "hgvsWellDefined": "NP_001288068.1:p.Arg61_Pro396delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683363" }, { "@id": "http://reg.genome.network/allele/PA2827382223", "coordinates": [ { "allele": "T", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346713.2:c.412C>T" ], "proteinEffect": { "hgvs": "NP_001333642.1:p.Arg138Ter", "hgvsWellDefined": "NP_001333642.1:p.Arg138_Pro473delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687417" }, { "@id": "http://reg.genome.network/allele/PA2827382556", "coordinates": [ { "allele": "T", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346715.2:c.412C>T" ], "proteinEffect": { "hgvs": "NP_001333644.1:p.Arg138Ter", "hgvsWellDefined": "NP_001333644.1:p.Arg138_Pro464delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687418" }, { "@id": "http://reg.genome.network/allele/PA2827382847", "coordinates": [ { "allele": "T", "end": 339, "referenceAllele": "C", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346717.2:c.304C>T" ], "proteinEffect": { "hgvs": "NP_001333646.1:p.Arg102Ter", "hgvsWellDefined": "NP_001333646.1:p.Arg102_Pro428delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687419" }, { "@id": "http://reg.genome.network/allele/PA2827383186", "coordinates": [ { "allele": "T", "end": 509, "referenceAllele": "C", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346719.2:c.217C>T" ], "proteinEffect": { "hgvs": "NP_001333648.1:p.Arg73Ter", "hgvsWellDefined": "NP_001333648.1:p.Arg73_Pro408delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687420" }, { "@id": "http://reg.genome.network/allele/PA2827383493", "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346720.2:c.31C>T" ], "proteinEffect": { "hgvs": "NP_001333649.1:p.Arg11Ter", "hgvsWellDefined": "NP_001333649.1:p.Arg11_Pro346delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687421" }, { "@id": "http://reg.genome.network/allele/PA916043483", "coordinates": [ { "allele": "T", "end": 515, "referenceAllele": "C", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362807.2:c.217C>T" ], "proteinEffect": { "hgvs": "NP_001349736.1:p.Arg73Ter", "hgvsWellDefined": "NP_001349736.1:p.Arg73_Pro399delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690548" }, { "@id": "http://reg.genome.network/allele/PA2828066407", "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362808.2:c.31C>T" ], "proteinEffect": { "hgvs": "NP_001349737.1:p.Arg11Ter", "hgvsWellDefined": "NP_001349737.1:p.Arg11_Pro337delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690549" }, { "@id": "http://reg.genome.network/allele/PA2828066718", "coordinates": [ { "allele": "T", "end": 216, "referenceAllele": "C", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362809.2:c.181C>T" ], "proteinEffect": { "hgvs": "NP_001349738.1:p.Arg61Ter", "hgvsWellDefined": "NP_001349738.1:p.Arg61_Pro387delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690550" }, { "@id": "http://reg.genome.network/allele/PA253600", "coordinates": [ { "allele": "T", "end": 339, "referenceAllele": "C", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_003919.3:c.304C>T" ], "proteinEffect": { "hgvs": "NP_003910.1:p.Arg102Ter", "hgvsWellDefined": "NP_003910.1:p.Arg102_Pro437delinsTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695983", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.304C>T" }, "RefSeq": { "hgvs": "NM_003919.3:c.304C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:p.Arg102Ter" }, "RefSeq": { "hgvs": "NP_003910.1:p.Arg102Ter" } } } } ], "type": "nucleotide" }