{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1906173", "communityStandardTitle": [ "NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360820[alleleid]", "alleleId": 360820, "preferredName": "NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373977", "RCV": [ "RCV000414803", "RCV000416049", "RCV000576327", "RCV003155176", "RCV003476003", "RCV004551415", "RCV002480270" ], "variationId": 373977 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-152357937-G-A", "id": "2-152357937-G-A", "variant": "2:152357937 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.152357937G>A?assembly=hg19", "id": "chr2:g.152357937G>A" } ], "MyVariantInfo_hg38": [ { "@id": 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"ENSP00000416578.2:p.Arg7997_Ile8525delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" 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"ENSP00000380505.3:p.Arg7997_Ile8525delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277752" }, { "coordinates": [ { "allele": "T", "end": 19028, "endIntronDirection": "+", "endIntronOffset": 1370, "referenceAllele": "C", "start": 19028, "startIntronDirection": "+", "startIntronOffset": 1369 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000409198.5:c.18825+1370C>T" ], "proteinEffect": { "hgvs": "ENSP00000386259.1:n.18825+1370C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS281341" }, { "coordinates": [ { "allele": "T", "end": 8025, "endIntronDirection": "+", "endIntronOffset": 1926, "referenceAllele": "C", "start": 8025, "startIntronDirection": "+", "startIntronOffset": 1925 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000413693.5:c.8025+1926C>T" ], "proteinEffect": { "hgvs": "ENSP00000410961.1:n.8025+1926C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS283187" }, { "coordinates": [ { "allele": "T", "end": 518, "referenceAllele": "C", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000421461.6:c.518C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS286813" }, { "coordinates": [ { "allele": "T", "end": 609, "endIntronDirection": "+", "endIntronOffset": 1370, "referenceAllele": "C", "start": 609, "startIntronDirection": "+", "startIntronOffset": 1369 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000424585.1:c.609+1370C>T" ], "proteinEffect": { "hgvs": "ENSP00000404876.1:n.609+1370C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS288342" }, { "coordinates": [ { "allele": "T", "end": 24192, "referenceAllele": "C", "start": 24191 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000427231.6:c.23989C>T" ], "proteinEffect": { "hgvs": "ENSP00000416578.2:p.Arg7997Ter", "hgvsWellDefined": "ENSP00000416578.2:p.Arg7997_Ile8525delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS289597" }, { "coordinates": [ { "allele": "T", "end": 1394, "endIntronDirection": "+", "endIntronOffset": 4055, "referenceAllele": "C", "start": 1394, "startIntronDirection": "+", "startIntronOffset": 4054 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000434685.5:c.1394+4055C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS293160" }, { "coordinates": [ { "allele": "A", "end": 2949, "endIntronDirection": "-", "endIntronOffset": 1610, "referenceAllele": "G", "start": 2949, "startIntronDirection": "-", "startIntronOffset": 1611 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "ENST00000454583.6:c.2950-1611G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS302632" }, { "coordinates": [ { "allele": "T", "end": 225, "endIntronDirection": "+", "endIntronOffset": 4055, "referenceAllele": "C", "start": 225, "startIntronDirection": "+", "startIntronOffset": 4054 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000498015.2:n.225+4055C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS334112" }, { "coordinates": [ { "allele": "T", "end": 23989, "referenceAllele": "C", "start": 23988 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000603639.5:c.23989C>T" ], "proteinEffect": { "hgvs": "ENSP00000473894.1:p.Arg7997Ter", "hgvsWellDefined": "ENSP00000473894.1:p.Arg7997_Ile8525delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS398690" }, { "coordinates": [ { "allele": "T", "end": 23989, "referenceAllele": "C", "start": 23988 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000604864.5:c.23989C>T" ], "proteinEffect": { "hgvs": "ENSP00000474498.1:p.Arg7997Ter", "hgvsWellDefined": "ENSP00000474498.1:p.Arg7997_Ile8525delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS399216" }, { "coordinates": [ { "allele": "T", "end": 24297, "referenceAllele": "C", "start": 24296 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000618972.4:c.24094C>T" ], "proteinEffect": { "hgvs": "ENSP00000484342.1:p.Arg8032Ter", "hgvsWellDefined": "ENSP00000484342.1:p.Arg8032_Ile8560delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404172" }, { "coordinates": [ { "allele": "T", "end": 24192, "referenceAllele": "C", "start": 24191 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164507.1:c.23989C>T" ], "proteinEffect": { "hgvs": "NP_001157979.1:p.Arg7997Ter", "hgvsWellDefined": "NP_001157979.1:p.Arg7997_Ile8525delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014569" }, { "coordinates": [ { "allele": "T", "end": 24192, "referenceAllele": "C", "start": 24191 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164508.1:c.23989C>T" ], "proteinEffect": { "hgvs": "NP_001157980.1:p.Arg7997Ter", "hgvsWellDefined": "NP_001157980.1:p.Arg7997_Ile8525delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014570" }, { "@id": "http://reg.genome.network/allele/PA645454651", "coordinates": [ { "allele": "T", "end": 24297, "referenceAllele": "C", "start": 24296 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001271208.1:c.24094C>T", "LRG_202t1:c.24094C>T" ], "proteinEffect": { "hgvs": "NP_001258137.1:p.Arg8032Ter", "hgvsWellDefined": "NP_001258137.1:p.Arg8032_Ile8560delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020514" }, { "coordinates": [ { "allele": "T", "end": 19028, "endIntronDirection": "+", "endIntronOffset": 1370, "referenceAllele": "C", "start": 19028, "startIntronDirection": "+", "startIntronOffset": 1369 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_004543.4:c.18825+1370C>T" ], "proteinEffect": { "hgvs": "NP_004534.2:n.18825+1370C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS029700" }, { "coordinates": [ { "allele": "T", "end": 24118, "endIntronDirection": "+", "endIntronOffset": 1370, "referenceAllele": "C", "start": 24118, "startIntronDirection": "+", "startIntronOffset": 1369 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246590.1:c.23928+1370C>T" ], "proteinEffect": { "hgvs": "XP_005246647.1:n.23928+1370C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS057686" }, { "coordinates": [ { "allele": "T", "end": 24179, "referenceAllele": "C", "start": 24178 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246591.1:c.23989C>T" ], "proteinEffect": { "hgvs": "XP_005246648.1:p.Arg7997Ter", "hgvsWellDefined": "XP_005246648.1:p.Arg7997_Ile8494delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057687" }, { "coordinates": [ { "allele": "T", "end": 24179, "referenceAllele": "C", "start": 24178 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246592.1:c.23989C>T" ], "proteinEffect": { "hgvs": "XP_005246649.1:p.Arg7997Ter", "hgvsWellDefined": "XP_005246649.1:p.Arg7997_Ile8494delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057688" }, { "coordinates": [ { "allele": "T", "end": 24179, "referenceAllele": "C", "start": 24178 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246593.1:c.23989C>T" ], "proteinEffect": { "hgvs": "XP_005246650.1:p.Arg7997Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057689" }, { "coordinates": [ { "allele": "T", "end": 24086, "referenceAllele": "C", "start": 24085 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246594.1:c.23896C>T" ], "proteinEffect": { "hgvs": "XP_005246651.1:p.Arg7966Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057690" }, { "coordinates": [ { "allele": "T", "end": 24086, "referenceAllele": "C", "start": 24085 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246595.1:c.23896C>T" ], "proteinEffect": { "hgvs": "XP_005246652.1:p.Arg7966Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057691" }, { "coordinates": [ { "allele": "T", "end": 24118, "endIntronDirection": "+", "endIntronOffset": 1370, "referenceAllele": "C", "start": 24118, "startIntronDirection": "+", "startIntronOffset": 1369 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246596.1:c.23928+1370C>T" ], "proteinEffect": { "hgvs": "XP_005246653.1:n.23928+1370C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS057692" }, { "coordinates": [ { "allele": "T", "end": 24179, "referenceAllele": "C", "start": 24178 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246597.1:c.23989C>T" ], "proteinEffect": { "hgvs": "XP_005246654.1:p.Arg7997Ter", "hgvsWellDefined": "XP_005246654.1:p.Arg7997_Ile8463delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057693" }, { "coordinates": [ { "allele": "T", "end": 24179, "referenceAllele": "C", "start": 24178 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246598.1:c.23989C>T" ], "proteinEffect": { "hgvs": "XP_005246655.1:p.Arg7997Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057694" }, { "coordinates": [ { "allele": "T", "end": 24118, "endIntronDirection": "+", "endIntronOffset": 1370, "referenceAllele": "C", "start": 24118, "startIntronDirection": "+", "startIntronOffset": 1369 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246599.1:c.23928+1370C>T" ], "proteinEffect": { "hgvs": "XP_005246656.1:n.23928+1370C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS057695" }, { "coordinates": [ { "allele": "T", "end": 24025, "endIntronDirection": "+", "endIntronOffset": 1926, "referenceAllele": "C", "start": 24025, "startIntronDirection": "+", "startIntronOffset": 1925 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246600.1:c.23835+1926C>T" ], "proteinEffect": { "hgvs": "XP_005246657.1:n.23835+1926C>T" }, "referenceSequence": 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"XP_005246668.1:p.Arg7997_Ile8308delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057704" }, { "coordinates": [ { "allele": "T", "end": 23450, "referenceAllele": "C", "start": 23449 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246612.1:c.23260C>T" ], "proteinEffect": { "hgvs": "XP_005246669.1:p.Arg7754Ter", "hgvsWellDefined": "XP_005246669.1:p.Arg7754_Ile8282delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057705" }, { "coordinates": [ { "allele": "T", "end": 23450, "referenceAllele": "C", "start": 23449 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246613.1:c.23260C>T" ], "proteinEffect": { "hgvs": "XP_005246670.1:p.Arg7754Ter", "hgvsWellDefined": "XP_005246670.1:p.Arg7754_Ile8282delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057706" }, { "coordinates": [ { "allele": "T", "end": 24025, "endIntronDirection": "+", "endIntronOffset": 1926, "referenceAllele": "C", "start": 24025, "startIntronDirection": "+", "startIntronOffset": 1925 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246615.1:c.23835+1926C>T" ], "proteinEffect": { "hgvs": "XP_005246672.1:n.23835+1926C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS057707" }, { "coordinates": [ { "allele": "T", "end": 24086, "referenceAllele": "C", "start": 24085 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246616.1:c.23896C>T" ], "proteinEffect": { "hgvs": "XP_005246673.1:p.Arg7966Ter", "hgvsWellDefined": "XP_005246673.1:p.Arg7966_Thr8018delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValPheTrpLysGluArgGlyLysAsnAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057708" }, { "coordinates": [ { "allele": "T", "end": 21263, "referenceAllele": "C", "start": 21262 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246617.1:c.21073C>T" ], "proteinEffect": { "hgvs": "XP_005246674.1:p.Arg7025Ter", "hgvsWellDefined": "XP_005246674.1:p.Arg7025_Ile7553delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057709" }, { "coordinates": [ { "allele": "T", "end": 24118, "endIntronDirection": "+", "endIntronOffset": 1370, "referenceAllele": "C", "start": 24118, "startIntronDirection": "+", "startIntronOffset": 1369 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712541.1:c.23928+1370C>T" ], "proteinEffect": { "hgvs": "XP_006712604.1:n.23928+1370C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS069699" }, { "coordinates": [ { "allele": "T", "end": 24118, "endIntronDirection": "+", "endIntronOffset": 1370, "referenceAllele": "C", "start": 24118, "startIntronDirection": "+", "startIntronOffset": 1369 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712542.1:c.23928+1370C>T" ], "proteinEffect": { "hgvs": "XP_006712605.1:n.23928+1370C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS069700" }, { "coordinates": [ { "allele": "T", "end": 24086, "referenceAllele": "C", "start": 24085 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511224.1:c.23896C>T" ], "proteinEffect": { "hgvs": "XP_011509526.1:p.Arg7966Ter", "hgvsWellDefined": "XP_011509526.1:p.Arg7966_Ile8494delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078485" }, { "coordinates": [ { "allele": "T", "end": 23932, "endIntronDirection": "+", "endIntronOffset": 4055, "referenceAllele": "C", "start": 23932, "startIntronDirection": "+", "startIntronOffset": 4054 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511225.1:c.23742+4055C>T" ], "proteinEffect": { "hgvs": "XP_011509527.1:n.23742+4055C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS078486" }, { "coordinates": [ { "allele": "T", "end": 21992, "referenceAllele": "C", "start": 21991 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511226.1:c.21802C>T" ], "proteinEffect": { "hgvs": "XP_011509528.1:p.Arg7268Ter", "hgvsWellDefined": "XP_011509528.1:p.Arg7268_Ile7796delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078487" }, { "coordinates": [ { "allele": "T", "end": 19805, "referenceAllele": "C", "start": 19804 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511227.1:c.19615C>T" ], "proteinEffect": { "hgvs": "XP_011509529.1:p.Arg6539Ter", "hgvsWellDefined": "XP_011509529.1:p.Arg6539_Ile7067delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078488" }, { "coordinates": [ { "allele": "A", "end": 7838, "endIntronDirection": "+", "endIntronOffset": 18088, "referenceAllele": "G", "start": 7838, "startIntronDirection": "+", "startIntronOffset": 18087 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_922955.1:n.7838+18088G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS120017" }, { "coordinates": [ { "allele": "T", "end": 24118, "endIntronDirection": "+", "endIntronOffset": 1370, "referenceAllele": "C", "start": 24118, "startIntronDirection": "+", "startIntronOffset": 1369 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246590.2:c.23928+1370C>T" ], "proteinEffect": { "hgvs": "XP_005246647.1:n.23928+1370C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS532631" }, { "coordinates": [ { "allele": "T", "end": 24179, 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"XP_005246669.1:p.Arg7754_Ile8282delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532648" }, { "coordinates": [ { "allele": "T", "end": 23450, "referenceAllele": "C", "start": 23449 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246613.2:c.23260C>T" ], "proteinEffect": { "hgvs": "XP_005246670.1:p.Arg7754Ter", "hgvsWellDefined": "XP_005246670.1:p.Arg7754_Ile8282delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532649" }, { "coordinates": [ { "allele": "T", "end": 24025, "endIntronDirection": "+", "endIntronOffset": 1926, "referenceAllele": "C", "start": 24025, "startIntronDirection": "+", "startIntronOffset": 1925 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246615.2:c.23835+1926C>T" ], "proteinEffect": { "hgvs": "XP_005246672.1:n.23835+1926C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS532650" }, { "coordinates": [ { "allele": "T", "end": 21263, "referenceAllele": "C", "start": 21262 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246617.2:c.21073C>T" ], "proteinEffect": { "hgvs": "XP_005246674.1:p.Arg7025Ter", "hgvsWellDefined": "XP_005246674.1:p.Arg7025_Ile7553delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532651" }, { "coordinates": [ { "allele": "T", "end": 24118, "endIntronDirection": "+", "endIntronOffset": 1370, "referenceAllele": "C", "start": 24118, "startIntronDirection": "+", "startIntronOffset": 1369 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712541.2:c.23928+1370C>T" ], "proteinEffect": { "hgvs": "XP_006712604.1:n.23928+1370C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS538289" }, { "coordinates": [ { "allele": "T", "end": 24118, "endIntronDirection": "+", "endIntronOffset": 1370, "referenceAllele": "C", "start": 24118, "startIntronDirection": "+", "startIntronOffset": 1369 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712542.2:c.23928+1370C>T" ], "proteinEffect": { "hgvs": "XP_006712605.1:n.23928+1370C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS538290" }, { "coordinates": [ { "allele": "T", "end": 23932, "endIntronDirection": "+", "endIntronOffset": 4055, "referenceAllele": "C", "start": 23932, "startIntronDirection": "+", "startIntronOffset": 4054 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511225.2:c.23742+4055C>T" ], "proteinEffect": { "hgvs": "XP_011509527.1:n.23742+4055C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS542052" }, { "coordinates": [ { "allele": "T", "end": 21992, "referenceAllele": "C", "start": 21991 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511226.2:c.21802C>T" ], "proteinEffect": { "hgvs": "XP_011509528.1:p.Arg7268Ter", "hgvsWellDefined": "XP_011509528.1:p.Arg7268_Ile7796delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542053" }, { "coordinates": [ { "allele": "T", "end": 19805, "referenceAllele": "C", "start": 19804 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511227.2:c.19615C>T" ], "proteinEffect": { "hgvs": "XP_011509529.1:p.Arg6539Ter", "hgvsWellDefined": "XP_011509529.1:p.Arg6539_Ile7067delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542054" }, { "coordinates": [ { "allele": "T", "end": 24068, "referenceAllele": "C", "start": 24067 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004177.1:c.23878C>T" ], "proteinEffect": { "hgvs": "XP_016859666.1:p.Arg7960Ter", "hgvsWellDefined": "XP_016859666.1:p.Arg7960_Ile8488delinsValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559755" }, { "coordinates": [ { "allele": "T", "end": 24025, "endIntronDirection": "+", "endIntronOffset": 1926, "referenceAllele": "C", "start": 24025, "startIntronDirection": "+", "startIntronOffset": 1925 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004178.1:c.23835+1926C>T" ], "proteinEffect": { "hgvs": "XP_016859667.1:n.23835+1926C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS559756" }, { "coordinates": [ { "allele": "T", "end": 24025, "endIntronDirection": "+", "endIntronOffset": 1926, "referenceAllele": "C", "start": 24025, "startIntronDirection": "+", "startIntronOffset": 1925 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004179.1:c.23835+1926C>T" ], "proteinEffect": { "hgvs": "XP_016859668.1:n.23835+1926C>T" }, "referenceSequence": 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