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"ENSP00000494450.1:p.Arg933_Lys1581delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" 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"ENSP00000496282.1:p.Arg385Ter", "hgvsWellDefined": "ENSP00000496282.1:p.Arg385_Ser680delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgAspArgIleProProCysTrpProGlyTrpSerTer" }, 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"ENST00000644675.1:c.*969C>T" ], "proteinEffect": { "hgvs": "ENSP00000494567.1:n.*969C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767931" }, { "coordinates": [ { "allele": "T", "end": 2869, "referenceAllele": "C", "start": 2868 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644757.1:c.*1102C>T" ], "proteinEffect": { "hgvs": "ENSP00000495085.1:n.*1102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767980" }, { "coordinates": [ { "allele": "T", "end": 2894, "referenceAllele": "C", "start": 2893 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644772.1:c.2863C>T" ], "proteinEffect": { "hgvs": "ENSP00000494321.1:p.Arg955Ter", "hgvsWellDefined": "ENSP00000494321.1:p.Arg955_Lys1603delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" 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"http://reg.genome.network/refseq/RS768531" }, { "coordinates": [ { "allele": "T", "end": 2865, "referenceAllele": "C", "start": 2864 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645884.1:c.2797C>T" ], "proteinEffect": { "hgvs": "ENSP00000495516.1:p.Arg933Ter", "hgvsWellDefined": "ENSP00000495516.1:p.Arg933_Pro980delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluValSerGlyAspLysMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768584" }, { "coordinates": [ { "allele": "T", "end": 2635, "referenceAllele": "C", "start": 2634 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646003.1:c.*853C>T" ], "proteinEffect": { "hgvs": "ENSP00000495259.1:n.*853C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768646" }, { "coordinates": [ { 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"coordinates": [ { "allele": "T", "end": 2862, "referenceAllele": "C", "start": 2861 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646902.1:c.2794C>T" ], "proteinEffect": { "hgvs": "ENSP00000494101.1:p.Arg932Ter", "hgvsWellDefined": "ENSP00000494101.1:p.Arg932_Lys1570delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769127" }, { "coordinates": [ { "allele": "T", "end": 2928, "referenceAllele": "C", "start": 2927 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646993.1:c.*1193C>T" ], "proteinEffect": { "hgvs": "ENSP00000493720.1:n.*1193C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769179" }, { "coordinates": [ { "allele": "T", "end": 2803, "referenceAllele": "C", "start": 2802 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647013.1:c.2803C>T" ], "proteinEffect": { "hgvs": "ENSP00000496741.1:n.2803C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769189" }, { "coordinates": [ { "allele": "T", "end": 2616, "referenceAllele": "C", "start": 2615 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647015.1:c.2548C>T" ], "proteinEffect": { "hgvs": "ENSP00000495389.1:p.Arg850Ter", "hgvsWellDefined": "ENSP00000495389.1:p.Arg850_Lys1498delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769191" }, { "coordinates": [ { "allele": "T", "end": 4672, "referenceAllele": "C", "start": 4671 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647086.1:c.*2527C>T" ], "proteinEffect": { "hgvs": "ENSP00000493677.1:n.*2527C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769226" }, { "coordinates": [ { "allele": "T", "end": 2747, "referenceAllele": "C", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647158.1:c.*938C>T" ], "proteinEffect": { "hgvs": "ENSP00000495744.1:n.*938C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769267" }, { "coordinates": [ { "allele": "T", "end": 2869, "referenceAllele": "C", "start": 2868 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.8:c.2800C>T" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Arg934Ter", "hgvsWellDefined": "ENSP00000303960.4:p.Arg934_Lys1582delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255198" }, { "coordinates": [ { "allele": "T", "end": 2866, "referenceAllele": "C", "start": 2865 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.7:c.2797C>T" ], "proteinEffect": { "hgvs": "ENSP00000374467.3:p.Arg933Ter", "hgvsWellDefined": "ENSP00000374467.3:p.Arg933_Lys1581delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274297" }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "C", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000526921.5:n.481C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS352714" }, { "coordinates": [ { "allele": "T", "end": 2810, "referenceAllele": "C", "start": 2809 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000527905.5:c.2767C>T" ], "proteinEffect": { "hgvs": "ENSP00000431653.1:p.Arg923Ter", "hgvsWellDefined": "ENSP00000431653.1:p.Arg923_Pro997delinsGlnAspGlnGluLeuGluLysArgArgGlnLeuArgAlaArgArgMetThrThrCysArgProCysCysThrSerValLeuArgSerHisGlyGluProAlaProSerThrCysProProProAlaSerCysSerCysArgCysTrpSerSerHisSerCysSerSerThrTrpSerTrpTrpProSerThrThrGlyTrpProSerGlyProThrAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS353525" }, { "coordinates": [ { "allele": "T", "end": 466, "referenceAllele": "C", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000529967.5:n.466C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS355293" }, { "@id": "http://reg.genome.network/allele/PA248481", "coordinates": [ { "allele": "T", "end": 2866, "referenceAllele": "C", "start": 2865 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.4:c.2797C>T" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Arg933Ter", "hgvsWellDefined": "NP_000343.2:p.Arg933_Lys1581delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006415" }, { "@id": "http://reg.genome.network/allele/PA248482", "coordinates": [ { "allele": "T", "end": 2869, "referenceAllele": "C", "start": 2868 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.1:c.2800C>T" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Arg934Ter", "hgvsWellDefined": "NP_001274103.1:p.Arg934_Lys1582delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023254" }, { "coordinates": [ { "allele": "T", "end": 2860, "referenceAllele": "C", "start": 2859 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520331.1:c.2797C>T" ], "proteinEffect": { "hgvs": "XP_011518633.1:p.Arg933Ter", "hgvsWellDefined": "XP_011518633.1:p.Arg933_Lys1581delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087499" }, { "coordinates": [ { "allele": "T", "end": 2863, "referenceAllele": "C", "start": 2862 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520332.1:c.2800C>T" ], "proteinEffect": { "hgvs": "XP_011518634.1:p.Arg934Ter", "hgvsWellDefined": "XP_011518634.1:p.Arg934_His1477delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgCysHisHisHisArgArgArgGlyGluPheGlnProGlyThrGluAlaAlaValLeuProGlyProGlyLeuArgGluGluAspGlnHisLeuHisHisGlyArgGlyHisGlyPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087500" }, { "coordinates": [ { "allele": "T", "end": 1419, "referenceAllele": "C", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520333.1:c.1297C>T" ], "proteinEffect": { "hgvs": "XP_011518635.1:p.Arg433Ter", "hgvsWellDefined": "XP_011518635.1:p.Arg433_Lys1081delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087501" }, { "coordinates": [ { "allele": "T", "end": 2863, "referenceAllele": "C", "start": 2862 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520334.1:c.2800C>T" ], "proteinEffect": { "hgvs": "XP_011518636.1:p.Arg934Ter", "hgvsWellDefined": "XP_011518636.1:p.Arg934_Pro981delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluValSerGlyAspLysMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087502" }, { "coordinates": [ { "allele": "T", "end": 2863, "referenceAllele": "C", "start": 2862 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930890.1:n.2863C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127017" }, { "coordinates": [ { "allele": "T", "end": 2863, "referenceAllele": "C", "start": 2862 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930891.1:n.2863C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127018" }, { "coordinates": [ { "allele": "T", "end": 2863, "referenceAllele": "C", "start": 2862 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930892.1:n.2863C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127019" }, { "coordinates": [ { "allele": "T", "end": 2860, "referenceAllele": "C", "start": 2859 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930893.1:n.2860C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127020" }, { "@id": "http://reg.genome.network/allele/PA916030870", "coordinates": [ { "allele": "T", "end": 2932, "referenceAllele": "C", "start": 2931 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.1:c.2863C>T" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Arg955Ter", "hgvsWellDefined": "NP_001338224.1:p.Arg955_Lys1603delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520088" }, { "@id": "http://reg.genome.network/allele/PA2827604597", "coordinates": [ { "allele": "T", "end": 2866, "referenceAllele": "C", "start": 2865 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.1:c.2797C>T" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Arg933Ter", "hgvsWellDefined": "NP_001338225.1:p.Arg933_Lys1581delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520089" }, { "@id": "http://reg.genome.network/allele/PA2827605823", "coordinates": [ { "allele": "T", "end": 2863, "referenceAllele": "C", "start": 2862 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.1:c.2794C>T" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Arg932Ter", "hgvsWellDefined": "NP_001338226.1:p.Arg932_Lys1580delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520090" }, { "coordinates": [ { "allele": "T", "end": 2866, "referenceAllele": "C", "start": 2865 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.1:n.2866C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530635" }, { "coordinates": [ { "allele": "T", "end": 2938, "referenceAllele": "C", "start": 2937 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018197.2:c.2866C>T" ], "proteinEffect": { "hgvs": "XP_016873686.1:p.Arg956Ter", "hgvsWellDefined": "XP_016873686.1:p.Arg956_Lys1604delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570195" }, { "coordinates": [ { "allele": "T", "end": 2934, "referenceAllele": "C", "start": 2933 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018199.1:c.2863C>T" ], "proteinEffect": { "hgvs": "XP_016873688.1:p.Arg955Ter", "hgvsWellDefined": "XP_016873688.1:p.Arg955_Lys1603delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570196" }, { "coordinates": [ { "allele": "T", "end": 2938, "referenceAllele": "C", "start": 2937 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018201.2:c.2866C>T" ], "proteinEffect": { "hgvs": "XP_016873690.1:p.Arg956Ter", "hgvsWellDefined": "XP_016873690.1:p.Arg956_His1499delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgCysHisHisHisArgArgArgGlyGluPheGlnProGlyThrGluAlaAlaValLeuProGlyProGlyLeuArgGluGluAspGlnHisLeuHisHisGlyArgGlyHisGlyPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570197" }, { "coordinates": [ { "allele": "T", "end": 2730, "referenceAllele": "C", "start": 2729 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018202.1:c.1363C>T" ], "proteinEffect": { "hgvs": "XP_016873691.1:p.Arg455Ter", "hgvsWellDefined": "XP_016873691.1:p.Arg455_Lys1103delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570198" }, { "coordinates": [ { "allele": "T", "end": 1842, "referenceAllele": "C", "start": 1841 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018204.1:c.754C>T" ], "proteinEffect": { "hgvs": "XP_016873693.1:p.Arg252Ter", "hgvsWellDefined": "XP_016873693.1:p.Arg252_Lys900delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570199" }, { "coordinates": [ { "allele": "T", "end": 3881, "referenceAllele": "C", "start": 3880 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_024448668.1:c.1165C>T" ], "proteinEffect": { "hgvs": "XP_024304436.1:p.Arg389Ter", "hgvsWellDefined": "XP_024304436.1:p.Arg389_Lys1037delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582236" }, { "coordinates": [ { "allele": "T", "end": 2938, "referenceAllele": "C", "start": 2937 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747945.2:n.2938C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596022" }, { "coordinates": [ { "allele": "T", "end": 2869, "referenceAllele": "C", "start": 2868 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747946.2:n.2869C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596023" }, { "coordinates": [ { "allele": "T", "end": 2938, "referenceAllele": "C", "start": 2937 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_002957189.1:n.2938C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603325" }, { "@id": "http://reg.genome.network/allele/PA248481", "coordinates": [ { "allele": "T", "end": 2866, "referenceAllele": "C", "start": 2865 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.6:c.2797C>T" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Arg933Ter", "hgvsWellDefined": "NP_000343.2:p.Arg933_Lys1581delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.2797C>T" }, "RefSeq": { "hgvs": "NM_000352.6:c.2797C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Arg933Ter" }, "RefSeq": { "hgvs": "NP_000343.2:p.Arg933Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA248482", "coordinates": [ { "allele": "T", "end": 2869, "referenceAllele": "C", "start": 2868 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.2:c.2800C>T" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Arg934Ter", "hgvsWellDefined": "NP_001274103.1:p.Arg934_Lys1582delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682368" }, { "@id": "http://reg.genome.network/allele/PA916030870", "coordinates": [ { "allele": "T", "end": 2932, "referenceAllele": "C", "start": 2931 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.2:c.2863C>T" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Arg955Ter", "hgvsWellDefined": "NP_001338224.1:p.Arg955_Lys1603delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688742" }, { "@id": "http://reg.genome.network/allele/PA2827604597", "coordinates": [ { "allele": "T", "end": 2866, "referenceAllele": "C", "start": 2865 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.2:c.2797C>T" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Arg933Ter", "hgvsWellDefined": "NP_001338225.1:p.Arg933_Lys1581delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688743" }, { "@id": "http://reg.genome.network/allele/PA2827605823", "coordinates": [ { "allele": "T", "end": 2863, "referenceAllele": "C", "start": 2862 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.2:c.2794C>T" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Arg932Ter", "hgvsWellDefined": "NP_001338226.1:p.Arg932_Lys1580delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688744" }, { "coordinates": [ { "allele": "T", "end": 2866, "referenceAllele": "C", "start": 2865 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.2:n.2866C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704497" }, { "@id": "http://reg.genome.network/allele/PA248482", "coordinates": [ { "allele": "T", "end": 2869, "referenceAllele": "C", "start": 2868 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.3:c.2800C>T" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Arg934Ter", "hgvsWellDefined": "NP_001274103.1:p.Arg934_Lys1582delinsGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716342" } ], "type": "nucleotide" }