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"ENSP00000496124.1:p.Trp232_Cys671delinsMetAsnAlaPheIleLysThrAlaHisLysLysProIleAspLeuArgAlaIleGlyLysLeuProIleAlaMetArgAlaLeuThrAsnTyrGlnArgLeuCysGluAlaPheAspAlaGlnValArgLysAspIleGlnGlyThrGlnGlyAlaArgAlaIleTrpGlnAlaLeuSerHisAlaPheGlyArgArgLeuValLeuSerSerThrPheArgIleLeuAlaAspLeuLeuGlyPheAlaGlyProLeuCysIlePheGlyIleValAspHisLeuGlyLysGluAsnAspValPheGlnProLysThrGlnPheLeuGlyValTyrPheValSerSerGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleThrPheValGlyHisValSerPhePheLysGluAlaAspPheSerProSerValAlaPheAlaSerLeuSerLeuPheHisIleLeuValThrProLeuPheLeuLeuSerSerValValArgSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValGlyCysGluProGlnAlaSerSerProGlyGlyLeuSerGlyProHisArgProThrAlaGluProGlyProGlnCysArgTrpArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767346" }, { "coordinates": [ { "allele": "A", "end": 798, "referenceAllele": "G", "start": 797 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644472.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000495378.1:p.Trp232Ter", "hgvsWellDefined": "ENSP00000495378.1:p.Trp232_Ser445delinsMetAsnAlaPheIleLysThrAlaHisLysLysProIleAspLeuArgAlaIleGlyLysLeuProIleAlaMetArgAlaLeuThrAsnTyrGlnArgLeuCysGluAlaPheAspAlaGlnArgLysAspIleGlnGlyThrGlnGlyAlaArgAlaIleTrpGlnAlaLeuSerHisAlaPheGlyArgArgLeuValLeuSerSerThrPheArgIleLeuAlaAspLeuLeuGlyPheAlaGlyProLeuCysIlePheGlyIleValAspHisLeuGlyLysGluAsnAspValPheGlnProLysThrGlnPheLeuGlyValTyrPheValSerSerGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767832" }, { "coordinates": [ { "allele": "A", "end": 764, "referenceAllele": "G", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644484.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000493558.1:p.Trp232Ter", "hgvsWellDefined": "ENSP00000493558.1:p.Trp232_Gly557delinsMetAsnAlaPheIleLysThrAlaHisLysLysProIleAspLeuArgAlaIleGlyLysLeuProIleAlaMetArgAlaLeuThrAsnTyrGlnArgLeuCysGluAlaPheAspAlaGlnArgLysAspIleGlnGlyThrGlnGlyAlaArgAlaIleTrpGlnAlaLeuSerHisAlaPheGlyArgArgLeuValLeuSerSerThrPheArgIleLeuAlaAspLeuLeuGlyPheAlaGlyProLeuCysIlePheGlyIleValAspHisLeuGlyLysGluAsnAspValPheGlnProLysThrGlnPheLeuGlyValTyrPheValSerSerGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767838" }, { "coordinates": [ { "allele": "A", "end": 618, "referenceAllele": "G", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644542.1:c.*400G>A" ], "proteinEffect": { "hgvs": "ENSP00000495532.1:n.*400G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767872" }, { "coordinates": [ { "allele": "A", "end": 791, "referenceAllele": "G", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644675.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000494567.1:p.Trp232Ter", "hgvsWellDefined": "ENSP00000494567.1:p.Trp232_Ser619delinsMetAsnAlaPheIleLysThrAlaHisLysLysProIleAspLeuArgAlaIleGlyLysLeuProIleAlaMetArgAlaLeuThrAsnTyrGlnArgLeuCysGluAlaPheAspAlaGlnArgLysAspIleGlnGlyThrGlnGlyAlaArgAlaIleTrpGlnAlaLeuSerHisAlaPheGlyArgArgLeuValLeuSerSerThrPheArgIleLeuAlaAspLeuLeuGlyPheAlaGlyProLeuCysIlePheGlyIleValAspHisLeuGlyLysGluAsnAspValPheGlnProLysThrGlnPheLeuGlyValTyrPheValSerSerGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleThrPheValGlyHisValSerPhePheLysGluAlaAspPheSerProSerValAlaPheAlaSerLeuSerLeuPheHisIleLeuValThrProLeuPheLeuLeuSerSerValValArgSerThrValLysAlaLeuValArgGlyGluGlyCysLeuCysAlaSerArgAlaAlaCysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767931" }, { "coordinates": [ { "allele": "A", "end": 776, "referenceAllele": "G", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644757.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000495085.1:p.Trp232Ter", "hgvsWellDefined": "ENSP00000495085.1:p.Trp232_Val561delinsMetAsnAlaPheIleLysThrAlaHisLysLysProIleAspLeuArgAlaIleGlyLysLeuProIleAlaMetArgAlaLeuThrAsnTyrGlnArgLeuCysGluAlaPheAspAlaGlnValArgLysAspIleGlnGlyThrGlnGlyAlaArgAlaIleTrpGlnAlaLeuSerHisAlaPheGlyArgArgLeuValLeuSerSerThrPheArgIleLeuAlaAspLeuLeuGlyPheAlaGlyProLeuCysIlePheGlyIleValAspHisLeuGlyLysGluAsnAspValPheGlnProLysThrGlnPheLeuGlyValTyrPheValSerSerGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerSerTrpProHisTrpThrAlaLeuProProSerHisProGlyHisLeuHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767980" }, { "coordinates": [ { "allele": "A", "end": 726, "referenceAllele": "G", "start": 725 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644772.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000494321.1:p.Trp232Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS767987" }, { "coordinates": [ { "allele": "A", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645744.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000494564.1:p.Trp232Ter", "hgvsWellDefined": "ENSP00000494564.1:p.Trp232_Ser338delinsMetAsnAlaPheIleLysThrAlaHisLysLysProIleAspLeuArgAlaIleGlyLysLeuProIleAlaMetArgAlaLeuThrAsnTyrGlnArgLeuCysGluAlaPheAspAlaGlnArgLysAspIleGlnGlyThrGlnGlyAlaArgAlaIleTrpGlnAlaLeuSerHisAlaPheGlyArgArgLeuValLeuSerSerThrPheArgIleLeuAlaAspLeuLeuGlyPheAlaGlyProLeuCysIlePheGlyIleValAspHisLeuGlyLysGluAsnAspValPheGlnProLysPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768524" }, { "coordinates": [ { "allele": "A", "end": 868, "referenceAllele": "G", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645760.1:c.868G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768531" }, { "coordinates": [ { "allele": "A", "end": 763, "referenceAllele": "G", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645884.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000495516.1:p.Trp232Ter", "hgvsWellDefined": "ENSP00000495516.1:p.Trp232_Pro980delinsMetAsnAlaPheIleLysThrAlaHisLysLysProIleAspLeuArgAlaIleGlyLysLeuProIleAlaMetArgAlaLeuThrAsnTyrGlnArgLeuCysGluAlaPheAspAlaGlnArgLysAspIleGlnGlyThrGlnGlyAlaArgAlaIleTrpGlnAlaLeuSerHisAlaPheGlyArgArgLeuValLeuSerSerThrPheArgIleLeuAlaAspLeuLeuGlyPheAlaGlyProLeuCysIlePheGlyIleValAspHisLeuGlyLysGluAsnAspValPheGlnProLysThrGlnPheLeuGlyValTyrPheValSerSerGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleThrPheValGlyHisValSerPhePheLysGluAlaAspPheSerProSerValAlaPheAlaSerLeuSerLeuPheHisIleLeuValThrProLeuPheLeuLeuSerSerValValArgSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluValSerGlyAspLysMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768584" }, { "coordinates": [ { "allele": "A", "end": 764, "referenceAllele": "G", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646003.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000495259.1:p.Trp232Ter", "hgvsWellDefined": "ENSP00000495259.1:p.Trp232_Pro570delinsMetAsnAlaPheIleLysThrAlaHisLysLysProIleAspLeuArgAlaIleGlyLysLeuProIleAlaMetArgAlaLeuThrAsnTyrGlnArgLeuCysGluAlaPheAspAlaGlnArgLysAspIleGlnGlyThrGlnGlyAlaArgAlaIleTrpGlnAlaLeuSerHisAlaPheGlyArgArgLeuValLeuSerSerThrPheArgIleLeuAlaAspLeuLeuGlyPheAlaGlyProLeuCysIlePheGlyIleValAspHisLeuGlyLysGluAsnAspValPheGlnProLysThrGlnPheLeuGlyValTyrPheValSerSerGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleArgAlaLysAlaLysArgValProValGlnCysArgAspProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768646" }, { "coordinates": [ { "allele": "A", "end": 703, "referenceAllele": "G", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646207.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000495025.1:p.Trp232Ter", "hgvsWellDefined": "ENSP00000495025.1:p.Trp232_Ser490delinsMetAsnAlaPheIleLysThrAlaHisLysLysProIleAspLeuArgAlaIleGlyLysLeuProIleAlaMetArgAlaLeuThrAsnTyrGlnArgLeuCysGluAlaPheAspAlaGlnArgLysAspIleGlnGlyThrGlnGlyAlaArgAlaIleTrpGlnAlaLeuSerHisAlaPheGlyArgArgLeuValLeuSerSerThrPheArgIleLeuAlaAspLeuLeuGlyPheAlaGlyProLeuCysIlePheGlyIleValAspHisLeuGlyLysGluAsnAspValPheGlnProLysThrGlnPheLeuGlyValTyrPheValSerSerGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768754" }, { "coordinates": [ { "allele": "A", "end": 750, "referenceAllele": "G", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646276.1:c.674G>A" ], "proteinEffect": { "hgvs": "ENSP00000496070.1:p.Trp225Ter", "hgvsWellDefined": "ENSP00000496070.1:p.Trp225_Val553delinsMetAsnAlaPheIleLysThrAlaHisLysLysProIleAspLeuArgAlaIleGlyLysLeuProIleAlaMetArgAlaLeuThrAsnTyrGlnArgLeuCysGluAlaPheAspAlaGlnArgLysAspIleGlnGlyThrGlnGlyAlaArgAlaIleTrpGlnAlaLeuSerHisAlaPheGlyArgArgLeuValLeuSerSerThrPheArgIleLeuAlaAspLeuLeuGlyPheAlaGlyProLeuCysIlePheGlyIleValAspHisLeuGlyLysGluAsnAspValPheGlnProLysThrGlnPheLeuGlyValTyrPheValSerSerGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerSerTrpProHisTrpThrAlaLeuProProSerHisProGlyHisLeuHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768789" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646737.1:c.573G>A" ], "proteinEffect": { "hgvs": "ENSP00000494874.1:p.Val191=" }, "referenceSequence": "http://reg.genome.network/refseq/RS769041" }, { "coordinates": [ { "allele": "A", "end": 763, "referenceAllele": "G", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646902.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000494101.1:p.Trp232Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS769127" }, { "coordinates": [ { "allele": "A", "end": 753, "referenceAllele": "G", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646993.1:c.695G>A" ], "proteinEffect": { "hgvs": "ENSP00000493720.1:p.Trp232Ter", "hgvsWellDefined": "ENSP00000493720.1:p.Trp232_Cys558delinsMetAsnAlaPheIleLysThrAlaHisLysLysProIleAspLeuArgAlaIleGlyLysLeuProIleAlaMetArgAlaLeuThrAsnTyrGlnArgLeuCysGluAlaPheAspAlaGlnValArgLysAspIleGlnGlyThrGlnGlyAlaArgAlaIleTrpGlnAlaLeuSerHisAlaPheGlyArgArgLeuValLeuSerSerThrPheArgIleLeuAlaAspLeuLeuGlyPheAlaGlyProLeuCysIlePheGlyIleValAspHisLeuGlyLysGluAsnAspValPheGlnProLysThrGlnPheLeuGlyValTyrPheValSerSerGlnGluPheLeuAlaAsnAlaTyrValLeuAlaValLeuLeuPheLeuAlaLeuLeuLeuGlnArgThrPheLeuGlnAlaSerTyrTyrValAlaIleGluThrGlyIleAsnLeuArgGlyAlaIleGlnThrLysIleTyrAsnLysIleMetHisLeuSerThrSerAsnLeuSerMetGlyGluMetThrAlaGlyGlnIleCysAsnLeuValAlaIleAspThrAsnGlnLeuMetTrpPhePhePheLeuCysProAsnLeuTrpAlaMetProValGlnIleIleValGlyValIleLeuLeuTyrTyrIleLeuGlyValSerAlaLeuIleGlyAlaAlaValIleIleLeuLeuAlaProValGlnTyrPheValAlaThrLysLeuSerGlnAlaGlnArgSerThrLeuGluTyrSerAsnGluArgLeuLysGlnThrAsnGluMetLeuArgGlyIleLysLeuLeuLysLeuTyrAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769179" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "G", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647013.1:c.593G>A" ], "proteinEffect": { "hgvs": "ENSP00000496741.1:p.Trp198Ter", "hgvsWellDefined": 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