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"ENSP00000495311.1:p.Glu65_Gln370delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProGluGluGlnMetLysArgProPheIleGlnValPheGlnAsnLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767056" }, { "coordinates": [ { "allele": "T", "end": 240, "referenceAllele": "G", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643128.1:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000496678.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000496678.1:p.Glu65_Gln418delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767106" }, { "coordinates": [ { "allele": "T", "end": 270, "referenceAllele": "G", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643193.1:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000496559.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000496559.1:p.Glu65_Phe458delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767145" }, { "coordinates": [ { "allele": "T", "end": 159, "endIntronDirection": "-", "endIntronOffset": 6360, "referenceAllele": "G", "start": 159, "startIntronDirection": "-", "startIntronOffset": 6361 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643206.1:c.110-6361G>T" ], "proteinEffect": { "hgvs": "ENSP00000496172.1:n.110-6361G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767151" }, { "coordinates": [ { "allele": "T", "end": 368, "referenceAllele": "G", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643272.1:c.301G>T" ], "proteinEffect": { "hgvs": "ENSP00000494488.1:p.Glu101Ter", "hgvsWellDefined": "ENSP00000494488.1:p.Glu101_Pro464delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767189" }, { "coordinates": [ { "allele": "T", "end": 138, "referenceAllele": "G", "start": 137 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643358.1:n.138G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767240" }, { "coordinates": [ { "allele": "T", "end": 55, "referenceAllele": "G", "start": 54 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643368.1:n.55G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767244" }, { "coordinates": [ { "allele": "T", "end": 437, "referenceAllele": "G", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643605.1:c.*180G>T" ], "proteinEffect": { "hgvs": "ENSP00000496480.1:n.*180G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767370" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643610.1:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000494350.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000494350.1:p.Glu65_Ser454delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAspGlyValSerProCysTrpProGlyTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767374" }, { "coordinates": [ { "allele": "T", "end": 261, "referenceAllele": "G", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643714.1:n.261G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767431" }, { "coordinates": [ { "allele": "T", "end": 292, "referenceAllele": "G", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643903.1:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000495165.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000495165.1:p.Glu65_Gln409delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767533" }, { "coordinates": [ { "allele": "T", "end": 304, "referenceAllele": "G", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644087.1:c.*123G>T" ], "proteinEffect": { "hgvs": "ENSP00000495249.1:n.*123G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767625" }, { "coordinates": [ { "allele": "T", "end": 242, "referenceAllele": "G", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644116.1:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000495276.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000495276.1:p.Glu65_Leu476delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767642" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644122.1:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000495236.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000495236.1:p.Glu65_Ile482delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGluIleIlePheSerIleThrAlaPheValAsnLeuArgArgPheSerPheAspAsnPheSerLysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767645" }, { "coordinates": [ { "allele": "T", "end": 175, "referenceAllele": "G", "start": 174 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644201.1:c.175G>T" ], "proteinEffect": { "hgvs": "ENSP00000495044.1:p.Glu59Ter", "hgvsWellDefined": "ENSP00000495044.1:p.Glu59_Asn173delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAlaPheMetSerTrpLeuValGlnMetSerArgPheLeuLeuValTyrGluLysLeuLysIleHisArgIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767694" }, { "coordinates": [ { "allele": "T", "end": 305, "referenceAllele": "G", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644375.1:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000494315.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000494315.1:p.Glu65_Leu473delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluCysHisLeuGlnLeuGlnSerLeuProGluAlaLeuSerSerHisCysProGluLysGluTyrPheIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767787" }, { "coordinates": [ { "allele": "T", "end": 281, "referenceAllele": "G", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644551.1:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000493981.1:p.Glu65Ter", "hgvsWellDefined": 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"ENSP00000496045.1:p.Glu65_Leu450delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767899" }, { "coordinates": [ { "allele": "T", "end": 220, "referenceAllele": "G", "start": 219 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644639.1:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000496391.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000496391.1:p.Glu65_Leu161delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluGlyValTyrArgTyrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767913" }, { "coordinates": [ { "allele": "T", "end": 94, "referenceAllele": "G", "start": 93 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644674.1:n.94G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767930" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644681.1:c.-81G>T" ], "proteinEffect": { "hgvs": "ENSP00000496455.1:n.-81G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767936" }, { "coordinates": [ { "allele": "T", "end": 146, "referenceAllele": "G", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644682.1:c.146G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767937" }, { "coordinates": [ { "allele": "T", "end": 302, "referenceAllele": "G", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644816.1:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000494898.1:p.Glu65Ter", 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"ENSP00000494898.1:p.Glu65_Leu460delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768014" }, { "coordinates": [ { "allele": "T", "end": 134, "referenceAllele": "G", "start": 133 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644924.1:n.134G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768078" }, { "coordinates": [ { "allele": "T", "end": 349, "referenceAllele": "G", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645101.1:c.301G>T" ], "proteinEffect": { "hgvs": "ENSP00000494975.1:p.Glu101Ter", "hgvsWellDefined": "ENSP00000494975.1:p.Glu101_Pro491delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768173" }, { "coordinates": [ { "allele": "T", "end": 339, "referenceAllele": "G", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645109.1:c.301G>T" ], "proteinEffect": { "hgvs": "ENSP00000495931.1:p.Glu101Ter", "hgvsWellDefined": "ENSP00000495931.1:p.Glu101_Gln454delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768178" }, { "coordinates": [ { "allele": "T", "end": 112, "endIntronDirection": "-", "endIntronOffset": 1398, "referenceAllele": "G", "start": 112, "startIntronDirection": "-", "startIntronOffset": 1399 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645262.1:c.110-1399G>T" ], "proteinEffect": { "hgvs": "ENSP00000494164.1:n.110-1399G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768254" }, { "coordinates": [ { "allele": "T", "end": 247, "referenceAllele": "G", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645390.1:n.247G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768325" }, { "coordinates": [ { "allele": "T", "end": 191, "referenceAllele": "G", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645445.1:c.191G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768356" }, { "coordinates": [ { "allele": "T", "end": 279, "referenceAllele": "G", "start": 278 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645535.1:c.-81G>T" ], "proteinEffect": { "hgvs": "ENSP00000493984.1:n.-81G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768410" }, { "coordinates": [ { "allele": "T", "end": 261, "referenceAllele": "G", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645579.1:n.261G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768441" }, { "coordinates": [ { "allele": "T", "end": 219, "referenceAllele": "G", "start": 218 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645725.1:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000495480.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000495480.1:p.Glu65_Pro455delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768519" }, { "coordinates": [ { "allele": "T", "end": 201, "endIntronDirection": "-", "endIntronOffset": 1398, "referenceAllele": "G", "start": 201, "startIntronDirection": "-", "startIntronOffset": 1399 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645920.1:c.*40-1399G>T" ], "proteinEffect": { "hgvs": "ENSP00000494490.1:n.*40-1399G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768609" }, { "coordinates": [ { "allele": "T", "end": 264, "referenceAllele": "G", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646098.1:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000495591.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000495591.1:p.Glu65_Pro429delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" 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"ENSP00000494666.1:p.Glu65_Leu485delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769152" }, { "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "G", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647018.1:c.301G>T" ], "proteinEffect": { "hgvs": "ENSP00000493722.1:p.Glu101Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS769193" }, { "coordinates": [ { "allele": "T", "end": 56, "endIntronDirection": "-", "endIntronOffset": 1398, "referenceAllele": "G", "start": 56, "startIntronDirection": "-", "startIntronOffset": 1399 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647048.1:c.57-1399G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769208" }, { "coordinates": [ { "allele": "T", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647096.1:c.301G>T" ], "proteinEffect": { "hgvs": "ENSP00000494192.1:p.Glu101Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS769230" }, { "coordinates": [ { "allele": "T", "end": 88, "referenceAllele": "G", "start": 87 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647110.1:c.88G>T" ], "proteinEffect": { "hgvs": "ENSP00000494738.1:p.Glu30Ter", "hgvsWellDefined": "ENSP00000494738.1:p.Glu30_Leu453delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerGlyAspSerProAlaSerAlaSerArgValAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769238" }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "G", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647334.1:c.299G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769357" }, { "coordinates": [ { "allele": "T", "end": 221, "referenceAllele": "G", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647351.1:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000494556.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000494556.1:p.Glu65_Leu487delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769368" }, { "coordinates": [ { "allele": "T", "end": 228, "referenceAllele": "G", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000648936.2:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000497130.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000497130.1:p.Glu65_Pro437delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770269", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.193G>T" }, "RefSeq": { "hgvs": "NM_003919.3:c.193G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:p.Glu65Ter" }, "RefSeq": { "hgvs": "NP_003910.1:p.Glu65Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 304, "referenceAllele": "G", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000265735.11:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000265735.6:p.Glu65Ter", "hgvsWellDefined": "ENSP00000265735.6:p.Glu65_Pro437delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251813" }, { "coordinates": [ { "allele": "T", "end": 389, "referenceAllele": "G", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000415788.2:c.301G>T" ], "proteinEffect": { "hgvs": "ENSP00000405313.2:p.Glu101Ter", "hgvsWellDefined": "ENSP00000405313.2:p.Glu101_Cys471delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS284151" }, { "coordinates": [ { "allele": "T", "end": 330, "referenceAllele": "G", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000425444.1:c.*123G>T" ], "proteinEffect": { "hgvs": "ENSP00000391892.1:n.*123G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS288762" }, { "coordinates": [ { "allele": "T", "end": 193, "referenceAllele": "G", "start": 192 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000428696.6:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000397536.2:p.Glu65Ter", "hgvsWellDefined": "ENSP00000397536.2:p.Glu65_Leu451delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290318" }, { "coordinates": [ { "allele": "T", "end": 177, "endIntronDirection": "-", "endIntronOffset": 1398, "referenceAllele": "G", "start": 177, "startIntronDirection": "-", "startIntronOffset": 1399 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000437425.6:c.110-1399G>T" ], "proteinEffect": { "hgvs": "ENSP00000394061.2:n.110-1399G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS294460" }, { "coordinates": [ { "allele": "T", "end": 219, "referenceAllele": "G", "start": 218 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000445866.6:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000398930.2:p.Glu65Ter", "hgvsWellDefined": "ENSP00000398930.2:p.Glu65_Pro462delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS298479" }, { "coordinates": [ { "allele": "T", "end": 261, "referenceAllele": "G", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000447873.5:c.193G>T" ], "proteinEffect": { "hgvs": "ENSP00000388734.1:p.Glu65Ter", "hgvsWellDefined": "ENSP00000388734.1:p.Glu65_Pro428delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299469" }, { "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000450385.5:c.*231G>T" ], "proteinEffect": { "hgvs": "ENSP00000398344.1:n.*231G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS300679" }, { "@id": "http://reg.genome.network/allele/PA2825536252", "coordinates": [ { "allele": "T", "end": 304, "referenceAllele": "G", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099400.1:c.193G>T" ], "proteinEffect": { "hgvs": "NP_001092870.1:p.Glu65Ter", "hgvsWellDefined": "NP_001092870.1:p.Glu65_Leu451delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010734" }, { "@id": "http://reg.genome.network/allele/PA2825536629", "coordinates": [ { "allele": "T", "end": 304, "referenceAllele": "G", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099401.1:c.193G>T" ], "proteinEffect": { "hgvs": "NP_001092871.1:p.Glu65Ter", "hgvsWellDefined": "NP_001092871.1:p.Glu65_Pro462delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS029129" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "G", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_005250675.3:c.301G>T" ], "proteinEffect": { "hgvs": "XP_005250732.1:p.Glu101Ter", "hgvsWellDefined": "XP_005250732.1:p.Glu101_Pro473delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059257" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "G", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_005250677.3:c.301G>T" ], "proteinEffect": { "hgvs": "XP_005250734.1:p.Glu101Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS059258" }, { "coordinates": [ { "allele": "A", "end": 2192, "endIntronDirection": "-", "endIntronOffset": 1557, "referenceAllele": "C", "start": 2192, "startIntronDirection": "-", "startIntronOffset": 1558 } ], "gene": "http://reg.genome.network/gene/GN016014", "geneNCBI_id": 64921, "geneSymbol": "CASD1", "hgvs": [ "XM_011516495.1:c.2128-1558C>A" ], "proteinEffect": { "hgvs": "XP_011514797.1:n.2128-1558C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS083696" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "G", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516663.1:c.301G>T" ], "proteinEffect": { "hgvs": "XP_011514965.1:p.Glu101Ter", "hgvsWellDefined": "XP_011514965.1:p.Glu101_Phe503delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083863" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "G", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516664.1:c.301G>T" ], "proteinEffect": { "hgvs": "XP_011514966.1:p.Glu101Ter", "hgvsWellDefined": "XP_011514966.1:p.Glu101_Phe494delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083864" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516665.1:c.193G>T" ], "proteinEffect": { "hgvs": "XP_011514967.1:p.Glu65Ter", "hgvsWellDefined": "XP_011514967.1:p.Glu65_Phe467delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083865" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516666.1:c.193G>T" ], "proteinEffect": { "hgvs": "XP_011514968.1:p.Glu65Ter", "hgvsWellDefined": "XP_011514968.1:p.Glu65_Phe458delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083866" }, { "coordinates": [ { "allele": "T", "end": 393, "referenceAllele": "G", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516667.1:c.106G>T" ], "proteinEffect": { "hgvs": "XP_011514969.1:p.Glu36Ter", "hgvsWellDefined": "XP_011514969.1:p.Glu36_Phe438delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083867" }, { "coordinates": [ { "allele": "T", "end": 182, "endIntronDirection": "-", "endIntronOffset": 1398, "referenceAllele": "G", "start": 182, "startIntronDirection": "-", "startIntronOffset": 1399 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516668.1:c.110-1399G>T" ], "proteinEffect": { "hgvs": "XP_011514970.1:n.110-1399G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS083868" }, { "coordinates": [ { "allele": "T", "end": 325, "referenceAllele": "G", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516669.1:c.-81G>T" ], "proteinEffect": { "hgvs": "XP_011514971.1:n.-81G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS083869" }, { "@id": "http://reg.genome.network/allele/PA2827382188", "coordinates": [ { "allele": "T", "end": 412, "referenceAllele": "G", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346713.1:c.301G>T" ], "proteinEffect": { "hgvs": "NP_001333642.1:p.Glu101Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS517651" }, { "@id": "http://reg.genome.network/allele/PA2827382520", "coordinates": [ { "allele": "T", "end": 412, "referenceAllele": "G", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346715.1:c.301G>T" ], "proteinEffect": { "hgvs": "NP_001333644.1:p.Glu101Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS517653" }, { "@id": "http://reg.genome.network/allele/PA2827382812", "coordinates": [ { "allele": "T", "end": 304, "referenceAllele": "G", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346717.1:c.193G>T" ], "proteinEffect": { "hgvs": "NP_001333646.1:p.Glu65Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS517655" }, { "@id": "http://reg.genome.network/allele/PA2827383151", "coordinates": [ { "allele": "T", "end": 474, "referenceAllele": "G", "start": 473 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346719.1:c.106G>T" ], "proteinEffect": { "hgvs": "NP_001333648.1:p.Glu36Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS517656" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "G", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346720.1:c.-81G>T" ], "proteinEffect": { "hgvs": "NP_001333649.1:n.-81G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS517657" }, { "@id": "http://reg.genome.network/allele/PA2828066095", "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "G", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362807.1:c.106G>T" ], "proteinEffect": { "hgvs": "NP_001349736.1:p.Glu36Ter", "hgvsWellDefined": "NP_001349736.1:p.Glu36_Pro399delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523075" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "G", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362808.1:c.-81G>T" ], "proteinEffect": { "hgvs": "NP_001349737.1:n.-81G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS523076" }, { "coordinates": [ { "allele": "T", "end": 220, "endIntronDirection": "-", "endIntronOffset": 1398, "referenceAllele": "G", "start": 220, "startIntronDirection": "-", "startIntronOffset": 1399 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362809.1:c.110-1399G>T" ], "proteinEffect": { "hgvs": "NP_001349738.1:n.110-1399G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS523077" }, { "coordinates": [ { "allele": "A", "end": 2192, "endIntronDirection": "-", "endIntronOffset": 1557, "referenceAllele": "C", "start": 2192, "startIntronDirection": "-", "startIntronOffset": 1558 } ], "gene": "http://reg.genome.network/gene/GN016014", "geneNCBI_id": 64921, "geneSymbol": "CASD1", "hgvs": [ "XM_011516495.2:c.2128-1558C>A" ], "proteinEffect": { "hgvs": "XP_011514797.1:n.2128-1558C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS544191" }, { "coordinates": [ { "allele": "T", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516663.2:c.301G>T" ], "proteinEffect": { "hgvs": "XP_011514965.1:p.Glu101Ter", "hgvsWellDefined": "XP_011514965.1:p.Glu101_Phe503delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544255" }, { "coordinates": [ { "allele": "T", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516664.2:c.301G>T" ], "proteinEffect": { "hgvs": "XP_011514966.1:p.Glu101Ter", "hgvsWellDefined": "XP_011514966.1:p.Glu101_Phe494delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544256" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516665.3:c.193G>T" ], "proteinEffect": { "hgvs": "XP_011514967.1:p.Glu65Ter", "hgvsWellDefined": "XP_011514967.1:p.Glu65_Phe467delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544257" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516666.3:c.193G>T" ], "proteinEffect": { "hgvs": "XP_011514968.1:p.Glu65Ter", "hgvsWellDefined": "XP_011514968.1:p.Glu65_Phe458delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544258" }, { "coordinates": [ { "allele": "T", "end": 419, "referenceAllele": "G", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516667.2:c.106G>T" ], "proteinEffect": { "hgvs": "XP_011514969.1:p.Glu36Ter", "hgvsWellDefined": "XP_011514969.1:p.Glu36_Phe438delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544259" }, { "coordinates": [ { "allele": "T", "end": 324, "referenceAllele": "G", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516669.3:c.-81G>T" ], "proteinEffect": { "hgvs": "XP_011514971.1:n.-81G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS544260" }, { "coordinates": [ { "allele": "T", "end": 255, "referenceAllele": "G", "start": 254 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_017012763.1:c.106G>T" ], "proteinEffect": { "hgvs": "XP_016868252.1:p.Glu36Ter", "hgvsWellDefined": "XP_016868252.1:p.Glu36_Phe438delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566278" }, { "coordinates": [ { "allele": "T", "end": 338, "referenceAllele": "G", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_017012767.1:c.-81G>T" ], "proteinEffect": { "hgvs": "XP_016868256.1:n.-81G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS566279" }, { "coordinates": [ { "allele": "T", "end": 172, "endIntronDirection": "-", "endIntronOffset": 1398, "referenceAllele": "G", "start": 172, "startIntronDirection": "-", "startIntronOffset": 1399 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_024446985.1:c.110-1399G>T" ], "proteinEffect": { "hgvs": "XP_024302753.1:n.110-1399G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580613" }, { "coordinates": [ { "allele": "T", "end": 177, "endIntronDirection": "-", "endIntronOffset": 1398, "referenceAllele": "G", "start": 177, "startIntronDirection": "-", "startIntronOffset": 1399 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_024446986.1:c.110-1399G>T" ], "proteinEffect": { "hgvs": "XP_024302754.1:n.110-1399G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580614" }, { "@id": "http://reg.genome.network/allele/PA2825536252", "coordinates": [ { "allele": "T", "end": 228, "referenceAllele": "G", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099400.2:c.193G>T" ], "proteinEffect": { "hgvs": "NP_001092870.1:p.Glu65Ter", "hgvsWellDefined": "NP_001092870.1:p.Glu65_Leu451delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676500" }, { "@id": "http://reg.genome.network/allele/PA2825536629", "coordinates": [ { "allele": "T", "end": 228, "referenceAllele": "G", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099401.2:c.193G>T" ], "proteinEffect": { "hgvs": "NP_001092871.1:p.Glu65Ter", "hgvsWellDefined": "NP_001092871.1:p.Glu65_Pro462delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676501" }, { "coordinates": [ { "allele": "T", "end": 144, "endIntronDirection": "-", "endIntronOffset": 1398, "referenceAllele": "G", "start": 144, "startIntronDirection": "-", "startIntronOffset": 1399 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001301139.2:c.110-1399G>T" ], "proteinEffect": { "hgvs": "NP_001288068.1:n.110-1399G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS683363" }, { "@id": "http://reg.genome.network/allele/PA2827382188", "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "G", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346713.2:c.301G>T" ], "proteinEffect": { "hgvs": "NP_001333642.1:p.Glu101Ter", "hgvsWellDefined": "NP_001333642.1:p.Glu101_Pro473delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687417" }, { "@id": "http://reg.genome.network/allele/PA2827382520", "coordinates": [ { "allele": "T", "end": 336, "referenceAllele": "G", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346715.2:c.301G>T" ], "proteinEffect": { "hgvs": "NP_001333644.1:p.Glu101Ter", "hgvsWellDefined": "NP_001333644.1:p.Glu101_Pro464delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687418" }, { "@id": "http://reg.genome.network/allele/PA2827382812", "coordinates": [ { "allele": "T", "end": 228, "referenceAllele": "G", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346717.2:c.193G>T" ], "proteinEffect": { "hgvs": "NP_001333646.1:p.Glu65Ter", "hgvsWellDefined": "NP_001333646.1:p.Glu65_Pro428delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687419" }, { "@id": "http://reg.genome.network/allele/PA2827383151", "coordinates": [ { "allele": "T", "end": 398, "referenceAllele": "G", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346719.2:c.106G>T" ], "proteinEffect": { "hgvs": "NP_001333648.1:p.Glu36Ter", "hgvsWellDefined": "NP_001333648.1:p.Glu36_Pro408delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687420" }, { "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "G", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346720.2:c.-81G>T" ], "proteinEffect": { "hgvs": "NP_001333649.1:n.-81G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS687421" }, { "@id": "http://reg.genome.network/allele/PA2828066095", "coordinates": [ { "allele": "T", "end": 404, "referenceAllele": "G", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362807.2:c.106G>T" ], "proteinEffect": { "hgvs": "NP_001349736.1:p.Glu36Ter", "hgvsWellDefined": "NP_001349736.1:p.Glu36_Pro399delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690548" }, { "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "G", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362808.2:c.-81G>T" ], "proteinEffect": { "hgvs": "NP_001349737.1:n.-81G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS690549" }, { "coordinates": [ { "allele": "T", "end": 144, "endIntronDirection": "-", "endIntronOffset": 1398, "referenceAllele": "G", "start": 144, "startIntronDirection": "-", "startIntronOffset": 1399 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362809.2:c.110-1399G>T" ], "proteinEffect": { "hgvs": "NP_001349738.1:n.110-1399G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS690550" }, { "@id": "http://reg.genome.network/allele/PA645439167", "coordinates": [ { "allele": "T", "end": 228, "referenceAllele": "G", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_003919.3:c.193G>T" ], "proteinEffect": { "hgvs": "NP_003910.1:p.Glu65Ter", "hgvsWellDefined": "NP_003910.1:p.Glu65_Pro437delinsTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695983", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.193G>T" }, "RefSeq": { "hgvs": "NM_003919.3:c.193G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:p.Glu65Ter" }, "RefSeq": { "hgvs": "NP_003910.1:p.Glu65Ter" } } } } ], "type": "nucleotide" }