{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1905979", "communityStandardTitle": [ "NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=425402[alleleid]", "alleleId": 425402, "preferredName": "NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/432817", "RCV": [ "RCV000498615", "RCV000670685", "RCV003470620" ], "variationId": 432817 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-152350373-G-C", "id": "2-152350373-G-C", "variant": "2:152350373 G / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.152350373G>C?assembly=hg19", "id": "chr2:g.152350373G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.151493859G>C?assembly=hg38", "id": "chr2:g.151493859G>C" } ], "dbSNP": [ { 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247675" }, { "coordinates": [ { "allele": "G", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000397337.6:c.989C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS277747" }, { "coordinates": [ { "allele": "G", "end": 24791, "referenceAllele": "C", "start": 24790 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000397345.7:c.24588C>G" ], "proteinEffect": { "hgvs": "ENSP00000380505.3:p.Tyr8196Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS277752" }, { "coordinates": [ { "allele": "G", "end": 19223, "referenceAllele": "C", "start": 19222 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000409198.5:c.19020C>G" ], "proteinEffect": { "hgvs": "ENSP00000386259.1:p.Tyr6340Ter", "hgvsWellDefined": "ENSP00000386259.1:p.Tyr6340_Ile6669delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281341" }, { "coordinates": [ { "allele": "G", "end": 8211, "endIntronDirection": "+", "endIntronOffset": 302, "referenceAllele": "C", "start": 8211, "startIntronDirection": "+", "startIntronOffset": 301 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000413693.5:c.8211+302C>G" ], "proteinEffect": { "hgvs": "ENSP00000410961.1:n.8211+302C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS283187" }, { "coordinates": [ { "allele": "G", "end": 1024, "referenceAllele": "C", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000421461.6:c.1024C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS286813" }, { "coordinates": [ { "allele": "G", "end": 24791, "referenceAllele": "C", "start": 24790 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 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"ENSP00000416578.2:p.Tyr8196_Ile8525delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS289597" }, { "coordinates": [ { "allele": "G", "end": 1487, "endIntronDirection": "+", "endIntronOffset": 302, "referenceAllele": "C", "start": 1487, "startIntronDirection": "+", "startIntronOffset": 301 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000434685.5:c.1487+302C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS293160" }, { "coordinates": [ { "allele": "C", "end": 2655, "endIntronDirection": "-", "endIntronOffset": 1369, "referenceAllele": "G", "start": 2655, "startIntronDirection": "-", "startIntronOffset": 1370 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "ENST00000454583.6:c.2656-1370G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS302632" }, { "coordinates": [ { "allele": "C", "end": 480, "endIntronDirection": "-", "endIntronOffset": 1369, "referenceAllele": "G", "start": 480, "startIntronDirection": "-", "startIntronOffset": 1370 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "ENST00000457745.1:n.481-1370G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS304086" }, { "coordinates": [ { "allele": "G", "end": 225, "endIntronDirection": "-", "endIntronOffset": 1364, "referenceAllele": "C", "start": 225, "startIntronDirection": "-", "startIntronOffset": 1365 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000498015.2:n.226-1365C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS334112" }, { "coordinates": [ { "allele": "G", "end": 24588, "referenceAllele": "C", "start": 24587 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000603639.5:c.24588C>G" ], "proteinEffect": { "hgvs": "ENSP00000473894.1:p.Tyr8196Ter", "hgvsWellDefined": "ENSP00000473894.1:p.Tyr8196_Ile8525delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS398690" }, { "coordinates": [ { "allele": "G", "end": 24588, "referenceAllele": "C", "start": 24587 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000604864.5:c.24588C>G" ], "proteinEffect": { "hgvs": "ENSP00000474498.1:p.Tyr8196Ter", "hgvsWellDefined": "ENSP00000474498.1:p.Tyr8196_Ile8525delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS399216" }, { "coordinates": [ { "allele": "G", "end": 24896, "referenceAllele": "C", "start": 24895 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000618972.4:c.24693C>G" ], "proteinEffect": { "hgvs": "ENSP00000484342.1:p.Tyr8231Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS404172" }, { "coordinates": [ { "allele": "G", "end": 24791, "referenceAllele": "C", "start": 24790 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164507.1:c.24588C>G" ], "proteinEffect": { "hgvs": "NP_001157979.1:p.Tyr8196Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS014569" }, { "coordinates": [ { "allele": "G", "end": 24791, "referenceAllele": "C", "start": 24790 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164508.1:c.24588C>G" ], "proteinEffect": { "hgvs": "NP_001157980.1:p.Tyr8196Ter", "hgvsWellDefined": "NP_001157980.1:p.Tyr8196_Ile8525delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014570" }, { "@id": "http://reg.genome.network/allele/PA645454685", "coordinates": [ { "allele": "G", "end": 24896, "referenceAllele": "C", "start": 24895 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001271208.1:c.24693C>G", "LRG_202t1:c.24693C>G" ], "proteinEffect": { "hgvs": "NP_001258137.1:p.Tyr8231Ter", "hgvsWellDefined": "NP_001258137.1:p.Tyr8231_Ile8560delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020514" }, { "coordinates": [ { "allele": "G", "end": 19223, "referenceAllele": "C", "start": 19222 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_004543.4:c.19020C>G" ], "proteinEffect": { "hgvs": "NP_004534.2:p.Tyr6340Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS029700" }, { "coordinates": [ { "allele": "G", "end": 24685, "referenceAllele": "C", "start": 24684 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246590.1:c.24495C>G" ], "proteinEffect": { "hgvs": "XP_005246647.1:p.Tyr8165Ter", "hgvsWellDefined": "XP_005246647.1:p.Tyr8165_Ile8494delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057686" }, { "coordinates": [ { "allele": "G", "end": 24685, "referenceAllele": "C", "start": 24684 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246591.1:c.24495C>G" ], "proteinEffect": { "hgvs": "XP_005246648.1:p.Tyr8165Ter", "hgvsWellDefined": "XP_005246648.1:p.Tyr8165_Ile8494delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057687" }, { "coordinates": [ { "allele": "G", "end": 24685, "referenceAllele": "C", "start": 24684 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246592.1:c.24495C>G" ], "proteinEffect": { "hgvs": "XP_005246649.1:p.Tyr8165Ter", "hgvsWellDefined": "XP_005246649.1:p.Tyr8165_Ile8494delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057688" }, { "coordinates": [ { "allele": "G", "end": 24769, "endIntronDirection": "+", "endIntronOffset": 302, "referenceAllele": "C", "start": 24769, "startIntronDirection": "+", "startIntronOffset": 301 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246593.1:c.24579+302C>G" ], "proteinEffect": { "hgvs": "XP_005246650.1:n.24579+302C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS057689" }, { "coordinates": [ { "allele": "G", "end": 24685, "referenceAllele": "C", "start": 24684 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246594.1:c.24495C>G" ], "proteinEffect": { "hgvs": "XP_005246651.1:p.Tyr8165Ter", "hgvsWellDefined": "XP_005246651.1:p.Tyr8165_Ile8494delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057690" }, { "coordinates": [ { "allele": "G", "end": 24685, "referenceAllele": "C", "start": 24684 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246595.1:c.24495C>G" ], "proteinEffect": { "hgvs": "XP_005246652.1:p.Tyr8165Ter", "hgvsWellDefined": "XP_005246652.1:p.Tyr8165_Ile8494delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057691" }, { "coordinates": [ { "allele": "G", "end": 24592, "referenceAllele": "C", "start": 24591 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246596.1:c.24402C>G" ], "proteinEffect": { "hgvs": "XP_005246653.1:p.Tyr8134Ter", "hgvsWellDefined": "XP_005246653.1:p.Tyr8134_Ile8463delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057692" }, { "coordinates": [ { "allele": "G", "end": 24592, "referenceAllele": "C", "start": 24591 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246597.1:c.24402C>G" ], "proteinEffect": { "hgvs": "XP_005246654.1:p.Tyr8134Ter", "hgvsWellDefined": "XP_005246654.1:p.Tyr8134_Ile8463delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057693" }, { "coordinates": [ { "allele": "G", "end": 24769, "endIntronDirection": "+", "endIntronOffset": 302, "referenceAllele": "C", "start": 24769, "startIntronDirection": "+", "startIntronOffset": 301 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246598.1:c.24579+302C>G" ], "proteinEffect": { "hgvs": "XP_005246655.1:n.24579+302C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS057694" }, { "coordinates": [ { "allele": "G", "end": 24499, "referenceAllele": "C", "start": 24498 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246599.1:c.24309C>G" ], "proteinEffect": { "hgvs": "XP_005246656.1:p.Tyr8103Ter", "hgvsWellDefined": "XP_005246656.1:p.Tyr8103_Ile8432delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057695" }, { "coordinates": [ { "allele": "G", "end": 24499, "referenceAllele": "C", "start": 24498 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246600.1:c.24309C>G" ], "proteinEffect": { "hgvs": "XP_005246657.1:p.Tyr8103Ter", "hgvsWellDefined": "XP_005246657.1:p.Tyr8103_Ile8432delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057696" }, { "coordinates": [ { "allele": "G", "end": 24406, "referenceAllele": "C", "start": 24405 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246601.1:c.24216C>G" ], "proteinEffect": { "hgvs": "XP_005246658.1:p.Tyr8072Ter", "hgvsWellDefined": "XP_005246658.1:p.Tyr8072_Ile8401delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057697" }, { "coordinates": [ { "allele": "G", "end": 24406, "referenceAllele": "C", "start": 24405 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246602.1:c.24216C>G" ], "proteinEffect": { "hgvs": "XP_005246659.1:p.Tyr8072Ter", "hgvsWellDefined": "XP_005246659.1:p.Tyr8072_Ile8401delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057698" }, { "coordinates": [ { "allele": "G", "end": 24313, "referenceAllele": "C", "start": 24312 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246603.1:c.24123C>G" ], "proteinEffect": { "hgvs": "XP_005246660.1:p.Tyr8041Ter", "hgvsWellDefined": "XP_005246660.1:p.Tyr8041_Ile8370delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057699" }, { "coordinates": [ { "allele": "G", "end": 24397, "endIntronDirection": "+", "endIntronOffset": 302, "referenceAllele": "C", "start": 24397, "startIntronDirection": "+", "startIntronOffset": 301 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246604.1:c.24207+302C>G" ], "proteinEffect": { "hgvs": "XP_005246661.1:n.24207+302C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS057700" }, { "coordinates": [ { "allele": "G", "end": 24313, "referenceAllele": "C", "start": 24312 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246606.1:c.24123C>G" ], "proteinEffect": { "hgvs": "XP_005246663.1:p.Tyr8041Ter", "hgvsWellDefined": "XP_005246663.1:p.Tyr8041_Ile8370delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057701" }, { "coordinates": [ { "allele": "G", "end": 24220, "referenceAllele": "C", "start": 24219 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246608.1:c.24030C>G" ], "proteinEffect": { "hgvs": "XP_005246665.1:p.Tyr8010Ter", "hgvsWellDefined": "XP_005246665.1:p.Tyr8010_Ile8339delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057702" }, { "coordinates": [ { "allele": "G", "end": 24127, "referenceAllele": "C", "start": 24126 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246610.1:c.23937C>G" ], "proteinEffect": { "hgvs": "XP_005246667.1:p.Tyr7979Ter", "hgvsWellDefined": "XP_005246667.1:p.Tyr7979_Ile8308delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057703" }, { "coordinates": [ { "allele": "G", "end": 24211, "endIntronDirection": "-", "endIntronOffset": 413, "referenceAllele": "C", "start": 24211, "startIntronDirection": "-", "startIntronOffset": 414 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246611.1:c.24022-414C>G" ], "proteinEffect": { "hgvs": "XP_005246668.1:n.24022-414C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS057704" }, { "coordinates": [ { "allele": "G", "end": 24049, "referenceAllele": "C", "start": 24048 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246612.1:c.23859C>G" ], "proteinEffect": { "hgvs": "XP_005246669.1:p.Tyr7953Ter", "hgvsWellDefined": "XP_005246669.1:p.Tyr7953_Ile8282delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057705" }, { "coordinates": [ { "allele": "G", "end": 24049, "referenceAllele": "C", "start": 24048 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246613.1:c.23859C>G" ], "proteinEffect": { "hgvs": "XP_005246670.1:p.Tyr7953Ter", "hgvsWellDefined": "XP_005246670.1:p.Tyr7953_Ile8282delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057706" }, { "coordinates": [ { "allele": "G", "end": 24211, "endIntronDirection": "+", "endIntronOffset": 302, "referenceAllele": "C", "start": 24211, "startIntronDirection": "+", "startIntronOffset": 301 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246615.1:c.24021+302C>G" ], "proteinEffect": { "hgvs": "XP_005246672.1:n.24021+302C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS057707" }, { "coordinates": [ { "allele": "G", "end": 21862, "referenceAllele": "C", "start": 21861 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246617.1:c.21672C>G" ], "proteinEffect": { "hgvs": "XP_005246674.1:p.Tyr7224Ter", "hgvsWellDefined": "XP_005246674.1:p.Tyr7224_Ile7553delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057709" }, { "coordinates": [ { "allele": "G", "end": 24313, "referenceAllele": "C", "start": 24312 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712541.1:c.24123C>G" ], "proteinEffect": { "hgvs": "XP_006712604.1:p.Tyr8041Ter", "hgvsWellDefined": "XP_006712604.1:p.Tyr8041_Ile8370delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069699" }, { "coordinates": [ { "allele": "G", "end": 24313, "referenceAllele": "C", "start": 24312 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712542.1:c.24123C>G" ], "proteinEffect": { "hgvs": "XP_006712605.1:p.Tyr8041Ter", "hgvsWellDefined": "XP_006712605.1:p.Tyr8041_Ile8370delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069700" }, { "coordinates": [ { "allele": "G", "end": 24685, "referenceAllele": "C", "start": 24684 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511224.1:c.24495C>G" ], "proteinEffect": { "hgvs": "XP_011509526.1:p.Tyr8165Ter", "hgvsWellDefined": "XP_011509526.1:p.Tyr8165_Ile8494delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078485" }, { "coordinates": [ { "allele": "G", "end": 24034, "referenceAllele": "C", "start": 24033 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511225.1:c.23844C>G" ], "proteinEffect": { "hgvs": "XP_011509527.1:p.Tyr7948Ter", "hgvsWellDefined": "XP_011509527.1:p.Tyr7948_Ile8277delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078486" }, { "coordinates": [ { "allele": "G", "end": 22591, "referenceAllele": "C", "start": 22590 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511226.1:c.22401C>G" ], "proteinEffect": { "hgvs": "XP_011509528.1:p.Tyr7467Ter", "hgvsWellDefined": "XP_011509528.1:p.Tyr7467_Ile7796delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078487" }, { "coordinates": [ { "allele": "G", "end": 20404, "referenceAllele": "C", "start": 20403 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511227.1:c.20214C>G" ], "proteinEffect": { "hgvs": "XP_011509529.1:p.Tyr6738Ter", "hgvsWellDefined": "XP_011509529.1:p.Tyr6738_Ile7067delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078488" }, { "coordinates": [ { "allele": "C", "end": 7838, "endIntronDirection": "-", "endIntronOffset": 1369, "referenceAllele": "G", "start": 7838, "startIntronDirection": "-", "startIntronOffset": 1370 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_922954.1:n.7839-1370G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS120016" }, { "coordinates": [ { "allele": "C", "end": 7838, "endIntronDirection": "+", "endIntronOffset": 10524, "referenceAllele": "G", "start": 7838, "startIntronDirection": "+", "startIntronOffset": 10523 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_922955.1:n.7838+10524G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS120017" }, { "coordinates": [ { "allele": "C", "end": 7838, "endIntronDirection": "-", "endIntronOffset": 1369, "referenceAllele": "G", "start": 7838, "startIntronDirection": "-", "startIntronOffset": 1370 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_922956.1:n.7839-1370G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS120018" }, { "coordinates": [ { "allele": "C", "end": 7838, "endIntronDirection": "-", "endIntronOffset": 3926, "referenceAllele": "G", "start": 7838, "startIntronDirection": "-", "startIntronOffset": 3927 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_922957.1:n.7839-3927G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS120019" }, { "coordinates": [ { "allele": "G", "end": 24685, "referenceAllele": "C", "start": 24684 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246590.2:c.24495C>G" ], "proteinEffect": { "hgvs": "XP_005246647.1:p.Tyr8165Ter", "hgvsWellDefined": "XP_005246647.1:p.Tyr8165_Ile8494delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532631" }, { "coordinates": [ { "allele": "G", "end": 24685, "referenceAllele": "C", "start": 24684 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246591.2:c.24495C>G" ], "proteinEffect": { "hgvs": "XP_005246648.1:p.Tyr8165Ter", "hgvsWellDefined": "XP_005246648.1:p.Tyr8165_Ile8494delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532632" }, { "coordinates": [ { "allele": "G", "end": 24685, "referenceAllele": "C", "start": 24684 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246592.2:c.24495C>G" ], "proteinEffect": { "hgvs": "XP_005246649.1:p.Tyr8165Ter", "hgvsWellDefined": "XP_005246649.1:p.Tyr8165_Ile8494delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS532645" }, { "coordinates": [ { "allele": "G", "end": 24127, "referenceAllele": "C", "start": 24126 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246610.2:c.23937C>G" ], "proteinEffect": { "hgvs": "XP_005246667.1:p.Tyr7979Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS532646" }, { "coordinates": [ { "allele": "G", "end": 24211, "endIntronDirection": "-", "endIntronOffset": 413, "referenceAllele": "C", "start": 24211, "startIntronDirection": "-", "startIntronOffset": 414 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246611.2:c.24022-414C>G" ], "proteinEffect": { "hgvs": "XP_005246668.1:n.24022-414C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS532647" }, { "coordinates": [ { "allele": "G", "end": 24049, "referenceAllele": "C", "start": 24048 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246612.2:c.23859C>G" ], "proteinEffect": { "hgvs": "XP_005246669.1:p.Tyr7953Ter", "hgvsWellDefined": "XP_005246669.1:p.Tyr7953_Ile8282delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532648" }, { "coordinates": [ { "allele": "G", "end": 24049, "referenceAllele": "C", "start": 24048 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246613.2:c.23859C>G" ], "proteinEffect": { "hgvs": "XP_005246670.1:p.Tyr7953Ter", "hgvsWellDefined": "XP_005246670.1:p.Tyr7953_Ile8282delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532649" }, { "coordinates": [ { "allele": "G", "end": 24211, "endIntronDirection": "+", "endIntronOffset": 302, "referenceAllele": "C", "start": 24211, "startIntronDirection": "+", "startIntronOffset": 301 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246615.2:c.24021+302C>G" ], "proteinEffect": { "hgvs": "XP_005246672.1:n.24021+302C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS532650" }, { "coordinates": [ { "allele": "G", "end": 21862, "referenceAllele": "C", "start": 21861 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246617.2:c.21672C>G" ], "proteinEffect": { "hgvs": "XP_005246674.1:p.Tyr7224Ter", "hgvsWellDefined": "XP_005246674.1:p.Tyr7224_Ile7553delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532651" }, { "coordinates": [ { "allele": "G", "end": 24313, "referenceAllele": "C", "start": 24312 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712541.2:c.24123C>G" ], "proteinEffect": { "hgvs": "XP_006712604.1:p.Tyr8041Ter", "hgvsWellDefined": "XP_006712604.1:p.Tyr8041_Ile8370delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538289" }, { "coordinates": [ { "allele": "G", "end": 24313, "referenceAllele": "C", "start": 24312 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712542.2:c.24123C>G" ], "proteinEffect": { "hgvs": "XP_006712605.1:p.Tyr8041Ter", "hgvsWellDefined": "XP_006712605.1:p.Tyr8041_Ile8370delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538290" }, { "coordinates": [ { "allele": "G", "end": 24034, "referenceAllele": "C", "start": 24033 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511225.2:c.23844C>G" ], "proteinEffect": { "hgvs": "XP_011509527.1:p.Tyr7948Ter", "hgvsWellDefined": "XP_011509527.1:p.Tyr7948_Ile8277delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542052" }, { "coordinates": [ { "allele": "G", "end": 22591, "referenceAllele": "C", "start": 22590 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511226.2:c.22401C>G" ], "proteinEffect": { "hgvs": "XP_011509528.1:p.Tyr7467Ter", "hgvsWellDefined": "XP_011509528.1:p.Tyr7467_Ile7796delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542053" }, { "coordinates": [ { "allele": "G", "end": 20404, "referenceAllele": "C", "start": 20403 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511227.2:c.20214C>G" ], "proteinEffect": { "hgvs": "XP_011509529.1:p.Tyr6738Ter", "hgvsWellDefined": "XP_011509529.1:p.Tyr6738_Ile7067delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542054" }, { "coordinates": [ { "allele": "G", "end": 24667, "referenceAllele": "C", "start": 24666 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004177.1:c.24477C>G" ], "proteinEffect": { "hgvs": "XP_016859666.1:p.Tyr8159Ter", "hgvsWellDefined": "XP_016859666.1:p.Tyr8159_Ile8488delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559755" }, { "coordinates": [ { "allele": "G", "end": 24592, "referenceAllele": "C", "start": 24591 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004178.1:c.24402C>G" ], "proteinEffect": { "hgvs": "XP_016859667.1:p.Tyr8134Ter", "hgvsWellDefined": "XP_016859667.1:p.Tyr8134_Ile8463delinsLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559756" }, { "coordinates": [ { "allele": "G", "end": 24313, "referenceAllele": "C", "start": 24312 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004179.1:c.24123C>G" ], "proteinEffect": { "hgvs": "XP_016859668.1:p.Tyr8041Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS559757" }, { "coordinates": [ { "allele": "G", "end": 24313, "referenceAllele": "C", "start": 24312 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004180.1:c.24123C>G" ], "proteinEffect": { "hgvs": "XP_016859669.1:p.Tyr8041Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS589265" }, { "coordinates": [ { "allele": "C", "end": 8213, "endIntronDirection": "+", "endIntronOffset": 10524, "referenceAllele": "G", "start": 8213, "startIntronDirection": "+", "startIntronOffset": 10523 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738816.2:n.8213+10524G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS589266" }, { "coordinates": [ { "allele": "C", "end": 8213, "endIntronDirection": "+", "endIntronOffset": 10524, "referenceAllele": "G", "start": 8213, "startIntronDirection": "+", "startIntronOffset": 10523 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738817.2:n.8213+10524G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS589267" }, { "@id": "http://reg.genome.network/allele/PA916004628", "coordinates": [ { "allele": "G", "end": 24885, "referenceAllele": "C", "start": 24884 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001271208.2:c.24693C>G" ], "proteinEffect": { "hgvs": "NP_001258137.2:p.Tyr8231Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS664134" }, { "@id": "http://reg.genome.network/allele/PA2829545145", "coordinates": [ { "allele": "G", "end": 19212, "referenceAllele": "C", "start": 19211 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_004543.5:c.19020C>G" ], "proteinEffect": { "hgvs": "NP_004534.3:p.Tyr6340Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS696177" }, { "@id": "http://reg.genome.network/allele/PA2825986900", "coordinates": [ { "allele": "G", "end": 24780, "referenceAllele": "C", "start": 24779 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164507.2:c.24588C>G" ], "proteinEffect": { "hgvs": "NP_001157979.2:p.Tyr8196Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS713104", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000427231.7:c.24588C>G" }, "RefSeq": { "hgvs": "NM_001164507.2:c.24588C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000416578.2:p.Tyr8196Ter" }, "RefSeq": { "hgvs": "NP_001157979.2:p.Tyr8196Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825993855", "coordinates": [ { "allele": "G", "end": 24780, "referenceAllele": "C", "start": 24779 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164508.2:c.24588C>G" ], "proteinEffect": { "hgvs": "NP_001157980.2:p.Tyr8196Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS713105", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397345.8:c.24588C>G" }, "RefSeq": { "hgvs": "NM_001164508.2:c.24588C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380505.3:p.Tyr8196Ter" }, "RefSeq": { "hgvs": "NP_001157980.2:p.Tyr8196Ter" } } } } ], "type": "nucleotide" }