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"XP_005246667.1:p.Gln7337_Ile8308delinsIleLeuLeuAlaLysThrValSerAsnLeuValSerGluAsnLysTyrLysAspHisValLysLysHisLeuAlaGlnGlySerTyrThrThrLeuProGluThrArgAspThrValHisValLysGluValThrLysHisValSerAspThrAsnTyrLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057703" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246611.1:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_005246668.1:p.Gln7337Ter", "hgvsWellDefined": "XP_005246668.1:p.Gln7337_Ile8308delinsIleLeuLeuAlaLysThrValSerAsnLeuValSerGluAsnLysTyrLysAspHisValLysLysHisLeuAlaGlnGlySerTyrThrThrLeuProGluThrArgAspThrValHisValLysGluValThrLysHisValSerAspThrAsnTyrLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057704" }, { "coordinates": [ { "allele": "T", "end": 21470, "referenceAllele": "C", "start": 21469 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246612.1:c.21280C>T" ], "proteinEffect": { "hgvs": "XP_005246669.1:p.Gln7094Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS057705" }, { "coordinates": [ { "allele": "T", "end": 21470, "referenceAllele": "C", "start": 21469 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246613.1:c.21280C>T" ], "proteinEffect": { "hgvs": "XP_005246670.1:p.Gln7094Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS057706" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246615.1:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_005246672.1:p.Gln7337Ter", "hgvsWellDefined": "XP_005246672.1:p.Gln7337_Ile8277delinsIleLeuLeuAlaLysThrValSerAsnLeuValSerGluAsnLysTyrLysAspHisValLysLysHisLeuAlaGlnGlySerTyrThrThrLeuProGluThrArgAspThrValHisValLysGluValThrLysHisValSerAspThrAsnTyrLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057707" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246616.1:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_005246673.1:p.Gln7337Ter", "hgvsWellDefined": "XP_005246673.1:p.Gln7337_Thr8018delinsIleLeuLeuAlaLysThrValSerAsnLeuValSerGluAsnLysTyrLysAspHisValLysLysHisLeuAlaGlnGlySerTyrThrThrLeuProGluThrArgAspThrValHisValLysGluValThrLysHisValSerAspThrAsnTyrLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValPheTrpLysGluArgGlyLysAsnAlaThrTer" 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"XM_006712542.1:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_006712605.1:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS069700" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511224.1:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_011509526.1:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS078485" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511225.1:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_011509527.1:p.Gln7337Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_922955.1:n.7839-7734G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS120017" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246590.2:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_005246647.1:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS532631" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246591.2:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_005246648.1:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS532632" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246592.2:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_005246649.1:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS532633" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246593.2:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_005246650.1:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS532634" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246594.2:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_005246651.1:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS532635" }, { "coordinates": [ { 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4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246606.2:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_005246663.1:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS532644" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246608.2:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_005246665.1:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS532645" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246610.2:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_005246667.1:p.Gln7337Ter", "hgvsWellDefined": "XP_005246667.1:p.Gln7337_Ile8308delinsIleLeuLeuAlaLysThrValSerAsnLeuValSerGluAsnLysTyrLysAspHisValLysLysHisLeuAlaGlnGlySerTyrThrThrLeuProGluThrArgAspThrValHisValLysGluValThrLysHisValSerAspThrAsnTyrLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532646" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246611.2:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_005246668.1:p.Gln7337Ter", "hgvsWellDefined": "XP_005246668.1:p.Gln7337_Ile8308delinsIleLeuLeuAlaLysThrValSerAsnLeuValSerGluAsnLysTyrLysAspHisValLysLysHisLeuAlaGlnGlySerTyrThrThrLeuProGluThrArgAspThrValHisValLysGluValThrLysHisValSerAspThrAsnTyrLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532647" }, { "coordinates": [ { "allele": "T", "end": 21470, "referenceAllele": "C", "start": 21469 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246612.2:c.21280C>T" ], "proteinEffect": { "hgvs": "XP_005246669.1:p.Gln7094Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS532648" }, { "coordinates": [ { "allele": "T", "end": 21470, "referenceAllele": "C", "start": 21469 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246613.2:c.21280C>T" ], "proteinEffect": { "hgvs": "XP_005246670.1:p.Gln7094Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS532649" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246615.2:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_005246672.1:p.Gln7337Ter", "hgvsWellDefined": "XP_005246672.1:p.Gln7337_Ile8277delinsIleLeuLeuAlaLysThrValSerAsnLeuValSerGluAsnLysTyrLysAspHisValLysLysHisLeuAlaGlnGlySerTyrThrThrLeuProGluThrArgAspThrValHisValLysGluValThrLysHisValSerAspThrAsnTyrLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532650" }, { "coordinates": [ { "allele": "T", "end": 19283, "referenceAllele": "C", "start": 19282 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246617.2:c.19093C>T" ], "proteinEffect": { "hgvs": "XP_005246674.1:p.Gln6365Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS532651" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712541.2:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_006712604.1:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS538289" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712542.2:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_006712605.1:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS538290" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511225.2:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_011509527.1:p.Gln7337Ter", "hgvsWellDefined": "XP_011509527.1:p.Gln7337_Ile8277delinsIleLeuLeuAlaLysThrValSerAsnLeuValSerGluAsnLysTyrLysAspHisValLysLysHisLeuAlaGlnGlySerTyrThrThrLeuProGluThrArgAspThrValHisValLysGluValThrLysHisValSerAspThrAsnTyrLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542052" }, { "coordinates": [ { "allele": "T", "end": 20012, "referenceAllele": "C", "start": 20011 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511226.2:c.19822C>T" ], "proteinEffect": { "hgvs": "XP_011509528.1:p.Gln6608Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS542053" }, { "coordinates": [ { "allele": "T", "end": 17825, "referenceAllele": "C", "start": 17824 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511227.2:c.17635C>T" ], "proteinEffect": { "hgvs": "XP_011509529.1:p.Gln5879Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS542054" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004177.1:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_016859666.1:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS559755" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004178.1:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_016859667.1:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS559756" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004179.1:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_016859668.1:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS559757" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004180.1:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_016859669.1:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS559758" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004181.1:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_016859670.1:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS559759" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004182.1:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_016859671.1:p.Gln7337Ter", "hgvsWellDefined": "XP_016859671.1:p.Gln7337_Ile8308delinsIleLeuLeuAlaLysThrValSerAsnLeuValSerGluAsnLysTyrLysAspHisValLysLysHisLeuAlaGlnGlySerTyrThrThrLeuProGluThrArgAspThrValHisValLysGluValThrLysHisValSerAspThrAsnTyrLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559760" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004183.1:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_016859672.1:p.Gln7337Ter", "hgvsWellDefined": "XP_016859672.1:p.Gln7337_Ile8277delinsIleLeuLeuAlaLysThrValSerAsnLeuValSerGluAsnLysTyrLysAspHisValLysLysHisLeuAlaGlnGlySerTyrThrThrLeuProGluThrArgAspThrValHisValLysGluValThrLysHisValSerAspThrAsnTyrLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559761" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004184.1:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_016859673.1:p.Gln7337Ter", "hgvsWellDefined": "XP_016859673.1:p.Gln7337_Ile8277delinsIleLeuLeuAlaLysThrValSerAsnLeuValSerGluAsnLysTyrLysAspHisValLysLysHisLeuAlaGlnGlySerTyrThrThrLeuProGluThrArgAspThrValHisValLysGluValThrLysHisValSerAspThrAsnTyrLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559762" }, { "coordinates": [ { "allele": "T", "end": 22199, "referenceAllele": "C", "start": 22198 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004185.1:c.22009C>T" ], "proteinEffect": { "hgvs": "XP_016859674.1:p.Gln7337Ter", "hgvsWellDefined": "XP_016859674.1:p.Gln7337_Ile8184delinsIleLeuLeuAlaLysThrValSerAsnLeuValSerGluAsnLysTyrLysAspHisValLysLysHisLeuAlaGlnGlySerTyrThrThrLeuProGluThrArgAspThrValHisValLysGluValThrLysHisValSerAspThrAsnTyrLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559763" }, { "coordinates": [ { "allele": "A", "end": 8213, "endIntronDirection": "-", "endIntronOffset": 7733, "referenceAllele": "G", "start": 8213, "startIntronDirection": "-", "startIntronOffset": 7734 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738817.2:n.8214-7734G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589267" }, { "coordinates": [ { "allele": "T", "end": 22306, "referenceAllele": "C", "start": 22305 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001271208.2:c.22114C>T" ], "proteinEffect": { "hgvs": "NP_001258137.2:p.Gln7372Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS664134" }, { "coordinates": [ { "allele": "T", "end": 17098, "referenceAllele": "C", "start": 17097 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_004543.5:c.16906C>T" ], "proteinEffect": { "hgvs": "NP_004534.3:p.Gln5636Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696177" }, { "coordinates": [ { "allele": "T", "end": 22201, "referenceAllele": "C", "start": 22200 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164507.2:c.22009C>T" ], "proteinEffect": { "hgvs": "NP_001157979.2:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS713104", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000427231.7:c.22009C>T" }, "RefSeq": { "hgvs": "NM_001164507.2:c.22009C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000416578.2:p.Gln7337Ter" }, "RefSeq": { "hgvs": "NP_001157979.2:p.Gln7337Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 22201, "referenceAllele": "C", "start": 22200 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164508.2:c.22009C>T" ], "proteinEffect": { "hgvs": "NP_001157980.2:p.Gln7337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS713105", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397345.8:c.22009C>T" }, "RefSeq": { "hgvs": "NM_001164508.2:c.22009C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380505.3:p.Gln7337Ter" }, "RefSeq": { "hgvs": "NP_001157980.2:p.Gln7337Ter" } } } } ], "type": "nucleotide" }