{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4348932", "communityStandardTitle": [ "NM_003919.3(SGCE):c.21G>A (p.Trp7Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=577025[alleleid]", "alleleId": 577025, "preferredName": "NM_003919.3(SGCE):c.21G>A (p.Trp7Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/586563", "RCV": [ "RCV000713246", "RCV001340319" ], "variationId": 586563 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-94285390-C-T", "id": "7-94285390-C-T", "variant": "7:94285390 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.94285390C>T?assembly=hg19", "id": "chr7:g.94285390C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.94656078C>T?assembly=hg38", "id": "chr7:g.94656078C>T" } ], "dbSNP": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS755235" }, { "coordinates": [ { "allele": "A", "end": 100, "referenceAllele": "G", "start": 99 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000437425.7:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000394061.2:p.Trp7Ter", "hgvsWellDefined": "ENSP00000394061.2:p.Trp7_Pro396delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755662" }, { "coordinates": [ { "allele": "A", "end": 69, "referenceAllele": "G", "start": 68 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000445866.7:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000398930.2:p.Trp7Ter", "hgvsWellDefined": "ENSP00000398930.2:p.Trp7_Pro462delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756062" }, { "coordinates": [ { "allele": "A", "end": 130, "referenceAllele": "G", "start": 129 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000447873.6:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000388734.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000388734.1:p.Trp7_Pro428delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756146" }, { "coordinates": [ { "allele": "A", "end": 70, "referenceAllele": "G", "start": 69 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000450385.6:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000398344.2:p.Trp7Ter", "hgvsWellDefined": "ENSP00000398344.2:p.Trp7_Phe60delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrGlyThrLeuArgSerGluCysIleProIleSerArgCysProLeuCysSerCysPheGlyLysArgIlePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756285" }, { "coordinates": [ { "allele": "A", "end": 70, "referenceAllele": "G", "start": 69 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642169.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000496346.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000496346.1:p.Trp7_Leu45delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAspAsnCysLeuGlnGlnAlaHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766594" }, { "coordinates": [ { "allele": "A", "end": 42, "referenceAllele": "G", "start": 41 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642394.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000493751.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000493751.1:p.Trp7_Pro387delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766719" }, { "coordinates": [ { "allele": "A", "end": 72, "referenceAllele": "G", "start": 71 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642441.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000495994.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000495994.1:p.Trp7_Leu478delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766746" }, { "coordinates": [ { "allele": "A", "end": 13, "referenceAllele": "G", "start": 12 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642564.1:n.13G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766814" }, { "coordinates": [ { "allele": "A", "end": 50, "referenceAllele": "G", "start": 49 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642638.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000495555.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000495555.1:p.Trp7_Lys43delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValGluTyrGluArgAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766852" }, { "coordinates": [ { "allele": "A", "end": 59, "referenceAllele": "G", "start": 58 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642707.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000495270.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000495270.1:p.Trp7_Pro489delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766886" }, { "coordinates": [ { "allele": "A", "end": 89, "referenceAllele": "G", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642754.1:n.89G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766911" }, { "coordinates": [ { "allele": "A", "end": 110, "referenceAllele": "G", "start": 109 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642759.1:n.110G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766912" }, { "coordinates": [ { "allele": "A", "end": 109, "referenceAllele": "G", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642904.1:n.109G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766982" }, { "coordinates": [ { "allele": "A", "end": 64, "referenceAllele": "G", "start": 63 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000642933.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000496237.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000496237.1:p.Trp7_Leu451delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766996" }, { "coordinates": [ { "allele": "A", "end": 75, "referenceAllele": "G", "start": 74 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643041.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000495311.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000495311.1:p.Trp7_Gln370delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProGluGluGlnMetLysArgProPheIleGlnValPheGlnAsnLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767056" }, { "coordinates": [ { "allele": "A", "end": 68, "referenceAllele": "G", "start": 67 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643128.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000496678.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000496678.1:p.Trp7_Gln418delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767106" }, { "coordinates": [ { "allele": "A", "end": 98, "referenceAllele": "G", "start": 97 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643193.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000496559.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000496559.1:p.Trp7_Phe458delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767145" }, { "coordinates": [ { "allele": "A", "end": 71, "referenceAllele": "G", "start": 70 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643206.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000496172.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000496172.1:p.Trp7_Leu45delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAspAsnCysLeuGlnGlnAlaHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767151" }, { "coordinates": [ { "allele": "A", "end": 88, "referenceAllele": "G", "start": 87 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643272.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000494488.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000494488.1:p.Trp7_Pro464delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767189" }, { "coordinates": [ { "allele": "A", "end": 89, "referenceAllele": "G", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643605.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000496480.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000496480.1:p.Trp7_Tyr62delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrGlyProGluValArgThrGlyArgValGlnTrpProThrProValIleProAlaLeuTrpGlnAlaGluLeuPheTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767370" }, { "coordinates": [ { "allele": "A", "end": 76, "referenceAllele": "G", "start": 75 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643610.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000494350.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000494350.1:p.Trp7_Ser454delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAspGlyValSerProCysTrpProGlyTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767374" }, { "coordinates": [ { "allele": "A", "end": 89, "referenceAllele": "G", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643714.1:n.89G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767431" }, { "coordinates": [ { "allele": "A", "end": 120, "referenceAllele": "G", "start": 119 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643903.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000495165.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000495165.1:p.Trp7_Gln409delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767533" }, { "coordinates": [ { "allele": "A", "end": 70, "referenceAllele": "G", "start": 69 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644087.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000495249.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000495249.1:p.Trp7_Lys43delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValGluTyrGluArgAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767625" }, { "coordinates": [ { "allele": "A", "end": 70, "referenceAllele": "G", "start": 69 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644116.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000495276.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000495276.1:p.Trp7_Leu476delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767642" }, { "coordinates": [ { "allele": "A", "end": 128, "referenceAllele": "G", "start": 127 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644122.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000495236.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000495236.1:p.Trp7_Ile482delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGluIleIlePheSerIleThrAlaPheValAsnLeuArgArgPheSerPheAspAsnPheSerLysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767645" }, { "coordinates": [ { "allele": "A", "end": 3, "referenceAllele": "G", "start": 2 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644201.1:c.3G>A" ], "proteinEffect": { "hgvs": "ENSP00000495044.1:p.Trp1Ter", "hgvsWellDefined": "ENSP00000495044.1:p.Trp1_Asn173delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAlaPheMetSerTrpLeuValGlnMetSerArgPheLeuLeuValTyrGluLysLeuLysIleHisArgIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767694" }, { "coordinates": [ { "allele": "A", "end": 133, "referenceAllele": "G", "start": 132 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644375.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000494315.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000494315.1:p.Trp7_Leu473delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluCysHisLeuGlnLeuGlnSerLeuProGluAlaLeuSerSerHisCysProGluLysGluTyrPheIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767787" }, { "coordinates": [ { "allele": "A", "end": 109, "referenceAllele": "G", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644551.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000493981.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000493981.1:p.Trp7_Pro464delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767877" }, { "coordinates": [ { "allele": "A", "end": 83, "referenceAllele": "G", "start": 82 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644609.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000496045.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000496045.1:p.Trp7_Leu450delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767899" }, { "coordinates": [ { "allele": "A", "end": 48, "referenceAllele": "G", "start": 47 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644639.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000496391.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000496391.1:p.Trp7_Leu161delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluGlyValTyrArgTyrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767913" }, { "coordinates": [ { "allele": "A", "end": 219, "endIntronDirection": "+", "endIntronOffset": 276, "referenceAllele": "G", "start": 219, "startIntronDirection": "+", "startIntronOffset": 275 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644681.1:c.-227+276G>A" ], "proteinEffect": { "hgvs": "ENSP00000496455.1:n.-227+276G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767936" }, { "coordinates": [ { "allele": "A", "end": 130, "referenceAllele": "G", "start": 129 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644816.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000494898.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000494898.1:p.Trp7_Leu460delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768014" }, { "coordinates": [ { "allele": "A", "end": 69, "referenceAllele": "G", "start": 68 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645101.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000494975.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000494975.1:p.Trp7_Pro491delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768173" }, { "coordinates": [ { "allele": "A", "end": 59, "referenceAllele": "G", "start": 58 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645109.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000495931.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000495931.1:p.Trp7_Gln454delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768178" }, { "coordinates": [ { "allele": "A", "end": 24, "referenceAllele": "G", "start": 23 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645262.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000494164.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000494164.1:p.Trp7_Leu410delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768254" }, { "coordinates": [ { "allele": "A", "end": 75, "referenceAllele": "G", "start": 74 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645390.1:n.75G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768325" }, { "coordinates": [ { "allele": "A", "end": 19, "referenceAllele": "G", "start": 18 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645445.1:c.19G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768356" }, { "coordinates": [ { "allele": "A", "end": 195, "endIntronDirection": "+", "endIntronOffset": 276, "referenceAllele": "G", "start": 195, "startIntronDirection": "+", "startIntronOffset": 275 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645535.1:c.-165+276G>A" ], "proteinEffect": { "hgvs": "ENSP00000493984.1:n.-165+276G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768410" }, { "coordinates": [ { "allele": "A", "end": 89, "referenceAllele": "G", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645579.1:n.89G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768441" }, { "coordinates": [ { "allele": "A", "end": 47, "referenceAllele": "G", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645725.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000495480.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000495480.1:p.Trp7_Pro455delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768519" }, { "coordinates": [ { "allele": "A", "end": 51, "referenceAllele": "G", "start": 50 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645920.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000494490.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000494490.1:p.Trp7_Lys43delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValGluTyrGluArgAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768609" }, { "coordinates": [ { "allele": "A", "end": 92, "referenceAllele": "G", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646098.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000495591.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000495591.1:p.Trp7_Pro429delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768693" }, { "coordinates": [ { "allele": "A", "end": 89, "referenceAllele": "G", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646137.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000495199.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000495199.1:p.Trp7_Ile446delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGluIleIlePheSerIleThrAlaPheValAsnLeuArgArgPheSerPheAspAsnPheSerLysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768720" }, { "coordinates": [ { "allele": "A", "end": 2, "referenceAllele": "G", "start": 1 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646265.1:c.2G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768784" }, { "coordinates": [ { "allele": "A", "end": 19, "referenceAllele": "G", "start": 18 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646434.1:c.19G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768869" }, { "coordinates": [ { "allele": "A", "end": 72, "referenceAllele": "G", "start": 71 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646466.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000493511.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000493511.1:p.Trp7_Lys43delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValGluTyrGluArgAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768891" }, { "coordinates": [ { "allele": "A", "end": 63, "referenceAllele": "G", "start": 62 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646489.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000496268.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000496268.1:p.Trp7_Pro473delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768903" }, { "coordinates": [ { "allele": "A", "end": 96, "referenceAllele": "G", "start": 95 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646559.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000495838.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000495838.1:p.Trp7_Lys43delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValGluTyrGluArgAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768938" }, { "coordinates": [ { "allele": "A", "end": 109, "referenceAllele": "G", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646600.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000494041.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000494041.1:p.Trp7_Lys43delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValGluTyrGluArgAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768965" }, { "coordinates": [ { "allele": "A", "end": 88, "referenceAllele": "G", "start": 87 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646682.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000496461.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000496461.1:p.Trp7_Lys43delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValGluTyrGluArgAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769008" }, { "coordinates": [ { "allele": "A", "end": 88, "referenceAllele": "G", "start": 87 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646761.1:n.88G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769054" }, { "coordinates": [ { "allele": "A", "end": 72, "referenceAllele": "G", "start": 71 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646879.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000495209.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000495209.1:p.Trp7_Cys426delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769112" }, { "coordinates": [ { "allele": "A", "end": 54, "referenceAllele": "G", "start": 53 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646910.1:n.54G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769133" }, { "coordinates": [ { "allele": "A", "end": 49, "referenceAllele": "G", "start": 48 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646943.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000494666.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000494666.1:p.Trp7_Leu485delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769152" }, { "coordinates": [ { "allele": "A", "end": 75, "referenceAllele": "G", "start": 74 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647018.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000493722.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000493722.1:p.Trp7_Gln454delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769193" }, { "coordinates": [ { "allele": "A", "end": 39, "referenceAllele": "G", "start": 38 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647096.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000494192.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000494192.1:p.Trp7_Pro500delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgPheLysAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769230" }, { "coordinates": [ { "allele": "A", "end": 19, "referenceAllele": "G", "start": 18 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647334.1:c.19G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769357" }, { "coordinates": [ { "allele": "A", "end": 49, "referenceAllele": "G", "start": 48 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647351.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000494556.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000494556.1:p.Trp7_Leu487delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769368" }, { "coordinates": [ { "allele": "A", "end": 56, "referenceAllele": "G", "start": 55 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000648936.2:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000497130.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000497130.1:p.Trp7_Pro437delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770269", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.21G>A" }, "RefSeq": { "hgvs": "NM_003919.3:c.21G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:p.Trp7Ter" }, "RefSeq": { "hgvs": "NP_003910.1:p.Trp7Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "G", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000265735.11:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000265735.6:p.Trp7Ter", "hgvsWellDefined": "ENSP00000265735.6:p.Trp7_Pro437delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251813" }, { "coordinates": [ { "allele": "A", "end": 109, "referenceAllele": "G", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000415788.2:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000405313.2:p.Trp7Ter", "hgvsWellDefined": "ENSP00000405313.2:p.Trp7_Cys471delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS284151" }, { "coordinates": [ { "allele": "A", "end": 96, "referenceAllele": "G", "start": 95 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000425444.1:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000391892.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000391892.1:p.Trp7_Lys43delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValGluTyrGluArgAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS288762" }, { "coordinates": [ { "allele": "A", "end": 21, "referenceAllele": "G", "start": 20 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000428696.6:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000397536.2:p.Trp7Ter", "hgvsWellDefined": "ENSP00000397536.2:p.Trp7_Leu451delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290318" }, { "coordinates": [ { "allele": "A", "end": 89, "referenceAllele": "G", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000437425.6:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000394061.2:p.Trp7Ter", "hgvsWellDefined": "ENSP00000394061.2:p.Trp7_Pro396delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294460" }, { "coordinates": [ { "allele": "A", "end": 47, "referenceAllele": "G", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000445866.6:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000398930.2:p.Trp7Ter", "hgvsWellDefined": "ENSP00000398930.2:p.Trp7_Pro462delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS298479" }, { "coordinates": [ { "allele": "A", "end": 89, "referenceAllele": "G", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000447873.5:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000388734.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000388734.1:p.Trp7_Pro428delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299469" }, { "coordinates": [ { "allele": "A", "end": 50, "referenceAllele": "G", "start": 49 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000450385.5:c.21G>A" ], "proteinEffect": { "hgvs": "ENSP00000398344.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000398344.1:p.Trp7_Lys43delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValGluTyrGluArgAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS300679" }, { "@id": "http://reg.genome.network/allele/PA2825536200", "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "G", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099400.1:c.21G>A" ], "proteinEffect": { "hgvs": "NP_001092870.1:p.Trp7Ter", "hgvsWellDefined": "NP_001092870.1:p.Trp7_Leu451delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010734" }, { "@id": "http://reg.genome.network/allele/PA2825536577", "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "G", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099401.1:c.21G>A" ], "proteinEffect": { "hgvs": "NP_001092871.1:p.Trp7Ter", "hgvsWellDefined": "NP_001092871.1:p.Trp7_Pro462delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010735" }, { "@id": "http://reg.genome.network/allele/PA2826864533", "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "G", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001301139.1:c.21G>A" ], "proteinEffect": { "hgvs": "NP_001288068.1:p.Trp7Ter", "hgvsWellDefined": "NP_001288068.1:p.Trp7_Pro396delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025125" }, { "@id": "http://reg.genome.network/allele/PA891851976", "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "G", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_003919.2:c.21G>A" ], "proteinEffect": { "hgvs": "NP_003910.1:p.Trp7Ter", "hgvsWellDefined": "NP_003910.1:p.Trp7_Pro437delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029129" }, { "coordinates": [ { "allele": "A", "end": 104, "referenceAllele": "G", "start": 103 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_005250675.3:c.21G>A" ], "proteinEffect": { "hgvs": "XP_005250732.1:p.Trp7Ter", "hgvsWellDefined": "XP_005250732.1:p.Trp7_Pro473delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059257" }, { "coordinates": [ { "allele": "A", "end": 104, "referenceAllele": "G", "start": 103 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_005250677.3:c.21G>A" ], "proteinEffect": { "hgvs": "XP_005250734.1:p.Trp7Ter", "hgvsWellDefined": "XP_005250734.1:p.Trp7_Pro464delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059258" }, { "coordinates": [ { "allele": "A", "end": 104, "referenceAllele": "G", "start": 103 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516663.1:c.21G>A" ], "proteinEffect": { "hgvs": "XP_011514965.1:p.Trp7Ter", "hgvsWellDefined": "XP_011514965.1:p.Trp7_Phe503delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083863" }, { "coordinates": [ { "allele": "A", "end": 104, "referenceAllele": "G", "start": 103 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516664.1:c.21G>A" ], "proteinEffect": { "hgvs": "XP_011514966.1:p.Trp7Ter", "hgvsWellDefined": "XP_011514966.1:p.Trp7_Phe494delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083864" }, { "coordinates": [ { "allele": "A", "end": 128, "referenceAllele": "G", "start": 127 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516665.1:c.21G>A" ], "proteinEffect": { "hgvs": "XP_011514967.1:p.Trp7Ter", "hgvsWellDefined": "XP_011514967.1:p.Trp7_Phe467delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083865" }, { "coordinates": [ { "allele": "A", "end": 128, "referenceAllele": "G", "start": 127 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516666.1:c.21G>A" ], "proteinEffect": { "hgvs": "XP_011514968.1:p.Trp7Ter", "hgvsWellDefined": "XP_011514968.1:p.Trp7_Phe458delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083866" }, { "coordinates": [ { "allele": "A", "end": 51, "referenceAllele": "G", "start": 50 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516667.1:c.-237G>A" ], "proteinEffect": { "hgvs": "XP_011514969.1:n.-237G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS083867" }, { "coordinates": [ { "allele": "A", "end": 94, "referenceAllele": "G", "start": 93 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516668.1:c.21G>A" ], "proteinEffect": { "hgvs": "XP_011514970.1:p.Trp7Ter", "hgvsWellDefined": "XP_011514970.1:p.Trp7_Phe426delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083868" }, { "coordinates": [ { "allele": "A", "end": 91, "referenceAllele": "G", "start": 90 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516669.1:c.-315G>A" ], "proteinEffect": { "hgvs": "XP_011514971.1:n.-315G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS083869" }, { "@id": "http://reg.genome.network/allele/PA2827382133", "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "G", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346713.1:c.21G>A" ], "proteinEffect": { "hgvs": "NP_001333642.1:p.Trp7Ter", "hgvsWellDefined": "NP_001333642.1:p.Trp7_Pro473delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517651" }, { "@id": "http://reg.genome.network/allele/PA2827382488", "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "G", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346715.1:c.21G>A" ], "proteinEffect": { "hgvs": "NP_001333644.1:p.Trp7Ter", "hgvsWellDefined": "NP_001333644.1:p.Trp7_Pro464delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517653" }, { "@id": "http://reg.genome.network/allele/PA2827382758", "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "G", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346717.1:c.21G>A" ], "proteinEffect": { "hgvs": "NP_001333646.1:p.Trp7Ter", "hgvsWellDefined": "NP_001333646.1:p.Trp7_Pro428delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517655" }, { "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "G", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346719.1:c.-237G>A" ], "proteinEffect": { "hgvs": "NP_001333648.1:n.-237G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS517656" }, { "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "G", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346720.1:c.-315G>A" ], "proteinEffect": { "hgvs": "NP_001333649.1:n.-315G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS517657" }, { "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "G", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362807.1:c.-243G>A" ], "proteinEffect": { "hgvs": "NP_001349736.1:n.-243G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS523075" }, { "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "G", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362808.1:c.-315G>A" ], "proteinEffect": { "hgvs": "NP_001349737.1:n.-315G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS523076" }, { "@id": "http://reg.genome.network/allele/PA2828066663", "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "G", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362809.1:c.21G>A" ], "proteinEffect": { "hgvs": "NP_001349738.1:p.Trp7Ter", "hgvsWellDefined": "NP_001349738.1:p.Trp7_Pro387delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523077" }, { "coordinates": [ { "allele": "A", "end": 107, "referenceAllele": "G", "start": 106 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516663.2:c.21G>A" ], "proteinEffect": { "hgvs": "XP_011514965.1:p.Trp7Ter", "hgvsWellDefined": "XP_011514965.1:p.Trp7_Phe503delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544255" }, { "coordinates": [ { "allele": "A", "end": 107, "referenceAllele": "G", "start": 106 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516664.2:c.21G>A" ], "proteinEffect": { "hgvs": "XP_011514966.1:p.Trp7Ter", "hgvsWellDefined": "XP_011514966.1:p.Trp7_Phe494delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544256" }, { "coordinates": [ { "allele": "A", "end": 128, "referenceAllele": "G", "start": 127 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516665.3:c.21G>A" ], "proteinEffect": { "hgvs": "XP_011514967.1:p.Trp7Ter", "hgvsWellDefined": "XP_011514967.1:p.Trp7_Phe467delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544257" }, { "coordinates": [ { "allele": "A", "end": 128, "referenceAllele": "G", "start": 127 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516666.3:c.21G>A" ], "proteinEffect": { "hgvs": "XP_011514968.1:p.Trp7Ter", "hgvsWellDefined": "XP_011514968.1:p.Trp7_Phe458delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544258" }, { "coordinates": [ { "allele": "A", "end": 77, "referenceAllele": "G", "start": 76 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516667.2:c.-237G>A" ], "proteinEffect": { "hgvs": "XP_011514969.1:n.-237G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS544259" }, { "coordinates": [ { "allele": "A", "end": 90, "referenceAllele": "G", "start": 89 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516669.3:c.-315G>A" ], "proteinEffect": { "hgvs": "XP_011514971.1:n.-315G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS544260" }, { "coordinates": [ { "allele": "A", "end": 104, "referenceAllele": "G", "start": 103 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_017012767.1:c.-315G>A" ], "proteinEffect": { "hgvs": "XP_016868256.1:n.-315G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS566279" }, { "coordinates": [ { "allele": "A", "end": 84, "referenceAllele": "G", "start": 83 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_024446985.1:c.21G>A" ], "proteinEffect": { "hgvs": "XP_024302753.1:p.Trp7Ter", "hgvsWellDefined": "XP_024302753.1:p.Trp7_Phe426delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580613" }, { "coordinates": [ { "allele": "A", "end": 89, "referenceAllele": "G", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_024446986.1:c.21G>A" ], "proteinEffect": { "hgvs": "XP_024302754.1:p.Trp7Ter", "hgvsWellDefined": "XP_024302754.1:p.Trp7_Phe417delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580614" }, { "@id": "http://reg.genome.network/allele/PA2825536200", "coordinates": [ { "allele": "A", "end": 56, "referenceAllele": "G", "start": 55 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099400.2:c.21G>A" ], "proteinEffect": { "hgvs": "NP_001092870.1:p.Trp7Ter", "hgvsWellDefined": "NP_001092870.1:p.Trp7_Leu451delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676500" }, { "@id": "http://reg.genome.network/allele/PA2825536577", "coordinates": [ { "allele": "A", "end": 56, "referenceAllele": "G", "start": 55 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099401.2:c.21G>A" ], "proteinEffect": { "hgvs": "NP_001092871.1:p.Trp7Ter", "hgvsWellDefined": "NP_001092871.1:p.Trp7_Pro462delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676501" }, { "@id": "http://reg.genome.network/allele/PA2826864533", "coordinates": [ { "allele": "A", "end": 56, "referenceAllele": "G", "start": 55 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001301139.2:c.21G>A" ], "proteinEffect": { "hgvs": "NP_001288068.1:p.Trp7Ter", "hgvsWellDefined": "NP_001288068.1:p.Trp7_Pro396delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683363" }, { "@id": "http://reg.genome.network/allele/PA2827382133", "coordinates": [ { "allele": "A", "end": 56, "referenceAllele": "G", "start": 55 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346713.2:c.21G>A" ], "proteinEffect": { "hgvs": "NP_001333642.1:p.Trp7Ter", "hgvsWellDefined": "NP_001333642.1:p.Trp7_Pro473delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687417" }, { "@id": "http://reg.genome.network/allele/PA2827382488", "coordinates": [ { "allele": "A", "end": 56, "referenceAllele": "G", "start": 55 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346715.2:c.21G>A" ], "proteinEffect": { "hgvs": "NP_001333644.1:p.Trp7Ter", "hgvsWellDefined": "NP_001333644.1:p.Trp7_Pro464delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrAlaPheLeuLeuSerCysAlaAspGlyIleAsnGlyThrValAsnTrpLysThrArgGlnAlaAsnAsnPheIleIleSerArgLysMetAlaAlaGlyMetLysAspValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687418" }, { "@id": "http://reg.genome.network/allele/PA2827382758", "coordinates": [ { "allele": "A", "end": 56, "referenceAllele": "G", "start": 55 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346717.2:c.21G>A" ], "proteinEffect": { "hgvs": "NP_001333646.1:p.Trp7Ter", "hgvsWellDefined": "NP_001333646.1:p.Trp7_Pro428delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687419" }, { "coordinates": [ { "allele": "A", "end": 56, "referenceAllele": "G", "start": 55 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346719.2:c.-237G>A" ], "proteinEffect": { "hgvs": "NP_001333648.1:n.-237G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS687420" }, { "coordinates": [ { "allele": "A", "end": 56, "referenceAllele": "G", "start": 55 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346720.2:c.-315G>A" ], "proteinEffect": { "hgvs": "NP_001333649.1:n.-315G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS687421" }, { "coordinates": [ { "allele": "A", "end": 56, "referenceAllele": "G", "start": 55 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362807.2:c.-243G>A" ], "proteinEffect": { "hgvs": "NP_001349736.1:n.-243G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS690548" }, { "coordinates": [ { "allele": "A", "end": 56, "referenceAllele": "G", "start": 55 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362808.2:c.-315G>A" ], "proteinEffect": { "hgvs": "NP_001349737.1:n.-315G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS690549" }, { "@id": "http://reg.genome.network/allele/PA2828066663", "coordinates": [ { "allele": "A", "end": 56, "referenceAllele": "G", "start": 55 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362809.2:c.21G>A" ], "proteinEffect": { "hgvs": "NP_001349738.1:p.Trp7Ter", "hgvsWellDefined": "NP_001349738.1:p.Trp7_Pro387delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690550" }, { "@id": "http://reg.genome.network/allele/PA891851976", "coordinates": [ { "allele": "A", "end": 56, "referenceAllele": "G", "start": 55 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_003919.3:c.21G>A" ], "proteinEffect": { "hgvs": "NP_003910.1:p.Trp7Ter", "hgvsWellDefined": "NP_003910.1:p.Trp7_Pro437delinsGluLeuGlyAspProCysAlaTrpThrGlyGlnGlyArgGlyThrArgArgMetSerProAlaThrThrGlyThrPheLeuLeuThrValTyrSerIlePheSerLysValHisSerAspArgAsnValTyrProSerAlaGlyValLeuPheValHisValLeuGluArgGluTyrPheLysGlyGluPheProProTyrProLysProGlyGluIleSerAsnAspProIleThrPheAsnThrAsnLeuMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695983", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.21G>A" }, "RefSeq": { "hgvs": "NM_003919.3:c.21G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:p.Trp7Ter" }, "RefSeq": { "hgvs": "NP_003910.1:p.Trp7Ter" } } } } ], "type": "nucleotide" }