{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1906309", "communityStandardTitle": [ "NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=628511[alleleid]", "alleleId": 628511, "preferredName": "NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/646106", "RCV": [ "RCV000800326", "RCV003467382" ], "variationId": 646106 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-152362703-G-A", "id": "2-152362703-G-A", "variant": "2:152362703 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.152362703G>A?assembly=hg19", "id": "chr2:g.152362703G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.151506189G>A?assembly=hg38", "id": "chr2:g.151506189G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/537560378", "rs": 537560378 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-152362703-G-A?dataset=gnomad_r2_1", "id": "2-152362703-G-A", "variant": "2:152362703 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-151506189-G-A?dataset=gnomad_r3", "id": "2-151506189-G-A", "variant": "2:151506189 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-151506189-G-A?dataset=gnomad_r4", "id": "2-151506189-G-A", "variant": "2:151506189 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 151506189, "referenceAllele": "G", "start": 151506188 } ], "hgvs": [ "NC_000002.12:g.151506189G>A", "CM000664.2:g.151506189G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 152362703, "referenceAllele": "G", "start": 152362702 } ], "hgvs": [ "NC_000002.11:g.152362703G>A", "CM000664.1:g.152362703G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 152070949, "referenceAllele": "G", "start": 152070948 } ], "hgvs": [ "NC_000002.10:g.152070949G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 233299, "referenceAllele": "C", "start": 233298 } ], "hgvs": [ "NG_009382.2:g.233299C>T", "LRG_202:g.233299C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001584" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2958, "referenceAllele": "C", "start": 2957 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000434685.6:c.2958C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS824863" }, { "coordinates": [ { "allele": "T", "end": 1305, "referenceAllele": "C", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000688161.1:n.1305C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831471" }, { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000688578.1:c.411C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831701" }, { "coordinates": [ { "allele": "T", "end": 6261, "referenceAllele": "C", "start": 6260 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000690043.1:c.6261C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832505" }, { "coordinates": [ { "allele": "T", "end": 2540, "referenceAllele": "C", "start": 2539 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000693000.1:n.2540C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS834010" }, { "coordinates": [ { "allele": "T", "end": 23818, "referenceAllele": "C", "start": 23817 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000397345.8:c.23626C>T" ], "proteinEffect": { "hgvs": "ENSP00000380505.3:p.Gln7876Ter", "hgvsWellDefined": "ENSP00000380505.3:p.Gln7876_Ile8525delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753632", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397345.8:c.23626C>T" }, "RefSeq": { "hgvs": "NM_001164508.2:c.23626C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380505.3:p.Gln7876Ter" }, "RefSeq": { "hgvs": "NP_001157980.2:p.Gln7876Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 23818, "referenceAllele": "C", "start": 23817 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000427231.7:c.23626C>T" ], "proteinEffect": { "hgvs": "ENSP00000416578.2:p.Gln7876Ter", "hgvsWellDefined": "ENSP00000416578.2:p.Gln7876_Ile8525delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755169", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000427231.7:c.23626C>T" }, "RefSeq": { "hgvs": "NM_001164507.2:c.23626C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000416578.2:p.Gln7876Ter" }, "RefSeq": { "hgvs": "NP_001157979.2:p.Gln7876Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 18726, "referenceAllele": "C", "start": 18725 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000172853.14:c.18523C>T" ], "proteinEffect": { "hgvs": "ENSP00000172853.10:p.Gln6175Ter", "hgvsWellDefined": "ENSP00000172853.10:p.Gln6175_Ile6669delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247675" }, { "coordinates": [ { "allele": "T", "end": 213, "referenceAllele": "C", "start": 212 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000397337.6:c.213C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS277747" }, { "coordinates": [ { "allele": "T", "end": 23829, "referenceAllele": "C", "start": 23828 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000397345.7:c.23626C>T" ], "proteinEffect": { "hgvs": "ENSP00000380505.3:p.Gln7876Ter", "hgvsWellDefined": "ENSP00000380505.3:p.Gln7876_Ile8525delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277752" }, { "coordinates": [ { "allele": "T", "end": 18726, "referenceAllele": "C", "start": 18725 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000409198.5:c.18523C>T" ], "proteinEffect": { "hgvs": "ENSP00000386259.1:p.Gln6175Ter", "hgvsWellDefined": "ENSP00000386259.1:p.Gln6175_Ile6669delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281341" }, { "coordinates": [ { "allele": "T", "end": 7816, "referenceAllele": "C", "start": 7815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000413693.5:c.7816C>T" ], "proteinEffect": { "hgvs": "ENSP00000410961.1:p.Gln2606Ter", "hgvsWellDefined": "ENSP00000410961.1:p.Gln2606_Ile3007delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS283187" }, { "coordinates": [ { "allele": "T", "end": 155, "referenceAllele": "C", "start": 154 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000421461.6:c.155C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS286813" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000424585.1:c.307C>T" ], "proteinEffect": { "hgvs": "ENSP00000404876.1:p.Gln103Ter", "hgvsWellDefined": "ENSP00000404876.1:p.Gln103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS288342" }, { "coordinates": [ { "allele": "T", "end": 23829, "referenceAllele": "C", "start": 23828 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000427231.6:c.23626C>T" ], "proteinEffect": { "hgvs": "ENSP00000416578.2:p.Gln7876Ter", "hgvsWellDefined": "ENSP00000416578.2:p.Gln7876_Ile8525delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS289597" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000434685.5:c.1278C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS293160" }, { "coordinates": [ { "allele": "A", "end": 3101, "endIntronDirection": "-", "endIntronOffset": 20, "referenceAllele": "G", "start": 3101, "startIntronDirection": "-", "startIntronOffset": 21 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "ENST00000454583.6:c.3102-21G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS302632" }, { "coordinates": [ { "allele": "A", "end": 242, "referenceAllele": "G", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "ENST00000467762.2:n.242G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS310837" }, { "coordinates": [ { "allele": "T", "end": 109, "referenceAllele": "C", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000498015.2:n.109C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS334112" }, { "coordinates": [ { "allele": "T", "end": 23626, "referenceAllele": "C", "start": 23625 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000603639.5:c.23626C>T" ], "proteinEffect": { "hgvs": "ENSP00000473894.1:p.Gln7876Ter", "hgvsWellDefined": "ENSP00000473894.1:p.Gln7876_Ile8525delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS398690" }, { "coordinates": [ { "allele": "T", "end": 23626, "referenceAllele": "C", "start": 23625 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000604864.5:c.23626C>T" ], "proteinEffect": { "hgvs": "ENSP00000474498.1:p.Gln7876Ter", "hgvsWellDefined": "ENSP00000474498.1:p.Gln7876_Ile8525delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS399216" }, { "coordinates": [ { "allele": "T", "end": 23934, "referenceAllele": "C", "start": 23933 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000618972.4:c.23731C>T" ], "proteinEffect": { "hgvs": "ENSP00000484342.1:p.Gln7911Ter", "hgvsWellDefined": "ENSP00000484342.1:p.Gln7911_Ile8560delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404172" }, { "coordinates": [ { "allele": "T", "end": 23829, "referenceAllele": "C", "start": 23828 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164507.1:c.23626C>T" ], "proteinEffect": { "hgvs": "NP_001157979.1:p.Gln7876Ter", "hgvsWellDefined": "NP_001157979.1:p.Gln7876_Ile8525delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014569" }, { "coordinates": [ { "allele": "T", "end": 23829, "referenceAllele": "C", "start": 23828 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164508.1:c.23626C>T" ], "proteinEffect": { "hgvs": "NP_001157980.1:p.Gln7876Ter", "hgvsWellDefined": "NP_001157980.1:p.Gln7876_Ile8525delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014570" }, { "coordinates": [ { "allele": "T", "end": 23934, "referenceAllele": "C", "start": 23933 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001271208.1:c.23731C>T", "LRG_202t1:c.23731C>T" ], "proteinEffect": { "hgvs": "NP_001258137.1:p.Gln7911Ter", "hgvsWellDefined": "NP_001258137.1:p.Gln7911_Ile8560delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020514" }, { "coordinates": [ { "allele": "T", "end": 18726, "referenceAllele": "C", "start": 18725 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_004543.4:c.18523C>T" ], "proteinEffect": { "hgvs": "NP_004534.2:p.Gln6175Ter", "hgvsWellDefined": "NP_004534.2:p.Gln6175_Ile6669delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029700" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246590.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246647.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246647.1:p.Gln7876_Ile8494delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057686" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246591.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246648.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246648.1:p.Gln7876_Ile8494delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057687" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246592.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246649.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246649.1:p.Gln7876_Ile8494delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057688" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246593.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246650.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246650.1:p.Gln7876_Ile8494delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057689" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246594.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246651.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246651.1:p.Gln7876_Ile8494delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057690" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246595.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246652.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246652.1:p.Gln7876_Ile8494delinsThrGlnAspHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057691" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246596.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246653.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246653.1:p.Gln7876_Ile8463delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057692" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246597.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246654.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246654.1:p.Gln7876_Ile8463delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057693" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246598.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246655.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246655.1:p.Gln7876_Ile8463delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057694" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246599.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246656.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246656.1:p.Gln7876_Ile8432delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057695" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246600.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246657.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246657.1:p.Gln7876_Ile8432delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057696" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246601.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246658.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246658.1:p.Gln7876_Ile8401delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057697" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246602.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246659.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246659.1:p.Gln7876_Ile8401delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057698" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246603.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246660.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246660.1:p.Gln7876_Ile8370delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057699" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246604.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246661.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246661.1:p.Gln7876_Ile8370delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057700" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246606.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246663.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246663.1:p.Gln7876_Ile8370delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057701" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246608.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246665.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246665.1:p.Gln7876_Ile8339delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057702" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246610.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246667.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246667.1:p.Gln7876_Ile8308delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057703" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246611.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246668.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246668.1:p.Gln7876_Ile8308delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057704" }, { "coordinates": [ { "allele": "T", "end": 23087, "referenceAllele": "C", "start": 23086 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246612.1:c.22897C>T" ], "proteinEffect": { "hgvs": "XP_005246669.1:p.Gln7633Ter", "hgvsWellDefined": "XP_005246669.1:p.Gln7633_Ile8282delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057705" }, { "coordinates": [ { "allele": "T", "end": 23087, "referenceAllele": "C", "start": 23086 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246613.1:c.22897C>T" ], "proteinEffect": { "hgvs": "XP_005246670.1:p.Gln7633Ter", "hgvsWellDefined": "XP_005246670.1:p.Gln7633_Ile8282delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057706" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246615.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246672.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246672.1:p.Gln7876_Ile8277delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057707" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246616.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246673.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246673.1:p.Gln7876_Thr8018delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValPheTrpLysGluArgGlyLysAsnAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057708" }, { "coordinates": [ { "allele": "T", "end": 20900, "referenceAllele": "C", "start": 20899 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246617.1:c.20710C>T" ], "proteinEffect": { "hgvs": "XP_005246674.1:p.Gln6904Ter", "hgvsWellDefined": "XP_005246674.1:p.Gln6904_Ile7553delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057709" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712541.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_006712604.1:p.Gln7876Ter", "hgvsWellDefined": "XP_006712604.1:p.Gln7876_Ile8370delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069699" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712542.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_006712605.1:p.Gln7876Ter", "hgvsWellDefined": "XP_006712605.1:p.Gln7876_Ile8370delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069700" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511224.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_011509526.1:p.Gln7876Ter", "hgvsWellDefined": "XP_011509526.1:p.Gln7876_Ile8494delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078485" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511225.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_011509527.1:p.Gln7876Ter", "hgvsWellDefined": "XP_011509527.1:p.Gln7876_Ile8277delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078486" }, { "coordinates": [ { "allele": "T", "end": 21629, "referenceAllele": "C", "start": 21628 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511226.1:c.21439C>T" ], "proteinEffect": { "hgvs": "XP_011509528.1:p.Gln7147Ter", "hgvsWellDefined": "XP_011509528.1:p.Gln7147_Ile7796delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078487" }, { "coordinates": [ { "allele": "T", "end": 19442, "referenceAllele": "C", "start": 19441 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511227.1:c.19252C>T" ], "proteinEffect": { "hgvs": "XP_011509529.1:p.Gln6418Ter", "hgvsWellDefined": "XP_011509529.1:p.Gln6418_Ile7067delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078488" }, { "coordinates": [ { "allele": "A", "end": 7838, "endIntronDirection": "+", "endIntronOffset": 22854, "referenceAllele": "G", "start": 7838, "startIntronDirection": "+", "startIntronOffset": 22853 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_922955.1:n.7838+22854G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS120017" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246590.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246647.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246647.1:p.Gln7876_Ile8494delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532631" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246591.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246648.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246648.1:p.Gln7876_Ile8494delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532632" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246592.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246649.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246649.1:p.Gln7876_Ile8494delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532633" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246593.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246650.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246650.1:p.Gln7876_Ile8494delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532634" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246594.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246651.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246651.1:p.Gln7876_Ile8494delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532635" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246596.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246653.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246653.1:p.Gln7876_Ile8463delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532636" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246597.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246654.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246654.1:p.Gln7876_Ile8463delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532637" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246598.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246655.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246655.1:p.Gln7876_Ile8463delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532638" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246599.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246656.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246656.1:p.Gln7876_Ile8432delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532639" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246601.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246658.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246658.1:p.Gln7876_Ile8401delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532640" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246602.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246659.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246659.1:p.Gln7876_Ile8401delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532641" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246603.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246660.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246660.1:p.Gln7876_Ile8370delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532642" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246604.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246661.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246661.1:p.Gln7876_Ile8370delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532643" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246606.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246663.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246663.1:p.Gln7876_Ile8370delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532644" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246608.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246665.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246665.1:p.Gln7876_Ile8339delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532645" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246610.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246667.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246667.1:p.Gln7876_Ile8308delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532646" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246611.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246668.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246668.1:p.Gln7876_Ile8308delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532647" }, { "coordinates": [ { "allele": "T", "end": 23087, "referenceAllele": "C", "start": 23086 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246612.2:c.22897C>T" ], "proteinEffect": { "hgvs": "XP_005246669.1:p.Gln7633Ter", "hgvsWellDefined": "XP_005246669.1:p.Gln7633_Ile8282delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532648" }, { "coordinates": [ { "allele": "T", "end": 23087, "referenceAllele": "C", "start": 23086 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246613.2:c.22897C>T" ], "proteinEffect": { "hgvs": "XP_005246670.1:p.Gln7633Ter", "hgvsWellDefined": "XP_005246670.1:p.Gln7633_Ile8282delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532649" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246615.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_005246672.1:p.Gln7876Ter", "hgvsWellDefined": "XP_005246672.1:p.Gln7876_Ile8277delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532650" }, { "coordinates": [ { "allele": "T", "end": 20900, "referenceAllele": "C", "start": 20899 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246617.2:c.20710C>T" ], "proteinEffect": { "hgvs": "XP_005246674.1:p.Gln6904Ter", "hgvsWellDefined": "XP_005246674.1:p.Gln6904_Ile7553delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532651" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712541.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_006712604.1:p.Gln7876Ter", "hgvsWellDefined": "XP_006712604.1:p.Gln7876_Ile8370delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538289" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712542.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_006712605.1:p.Gln7876Ter", "hgvsWellDefined": "XP_006712605.1:p.Gln7876_Ile8370delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538290" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511225.2:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_011509527.1:p.Gln7876Ter", "hgvsWellDefined": "XP_011509527.1:p.Gln7876_Ile8277delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542052" }, { "coordinates": [ { "allele": "T", "end": 21629, "referenceAllele": "C", "start": 21628 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511226.2:c.21439C>T" ], "proteinEffect": { "hgvs": "XP_011509528.1:p.Gln7147Ter", "hgvsWellDefined": "XP_011509528.1:p.Gln7147_Ile7796delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542053" }, { "coordinates": [ { "allele": "T", "end": 19442, "referenceAllele": "C", "start": 19441 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511227.2:c.19252C>T" ], "proteinEffect": { "hgvs": "XP_011509529.1:p.Gln6418Ter", "hgvsWellDefined": "XP_011509529.1:p.Gln6418_Ile7067delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542054" }, { "coordinates": [ { "allele": "T", "end": 23705, "referenceAllele": "C", "start": 23704 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004177.1:c.23515C>T" ], "proteinEffect": { "hgvs": "XP_016859666.1:p.Gln7839Ter", "hgvsWellDefined": "XP_016859666.1:p.Gln7839_Ile8488delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559755" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004178.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_016859667.1:p.Gln7876Ter", "hgvsWellDefined": "XP_016859667.1:p.Gln7876_Ile8463delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559756" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004179.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_016859668.1:p.Gln7876Ter", "hgvsWellDefined": "XP_016859668.1:p.Gln7876_Ile8370delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559757" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004180.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_016859669.1:p.Gln7876Ter", "hgvsWellDefined": "XP_016859669.1:p.Gln7876_Ile8370delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559758" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004181.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_016859670.1:p.Gln7876Ter", "hgvsWellDefined": "XP_016859670.1:p.Gln7876_Ile8339delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559759" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004182.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_016859671.1:p.Gln7876Ter", "hgvsWellDefined": "XP_016859671.1:p.Gln7876_Ile8308delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559760" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004183.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_016859672.1:p.Gln7876Ter", "hgvsWellDefined": "XP_016859672.1:p.Gln7876_Ile8277delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559761" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004184.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_016859673.1:p.Gln7876Ter", "hgvsWellDefined": "XP_016859673.1:p.Gln7876_Ile8277delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559762" }, { "coordinates": [ { "allele": "T", "end": 23816, "referenceAllele": "C", "start": 23815 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004185.1:c.23626C>T" ], "proteinEffect": { "hgvs": "XP_016859674.1:p.Gln7876Ter", "hgvsWellDefined": "XP_016859674.1:p.Gln7876_Ile8184delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559763" }, { "coordinates": [ { "allele": "A", "end": 10218, "endIntronDirection": "-", "endIntronOffset": 20, "referenceAllele": "G", "start": 10218, "startIntronDirection": "-", "startIntronOffset": 21 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738811.2:n.10219-21G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589261" }, { "coordinates": [ { "allele": "A", "end": 8599, "endIntronDirection": "-", "endIntronOffset": 20, "referenceAllele": "G", "start": 8599, "startIntronDirection": "-", "startIntronOffset": 21 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738812.2:n.8600-21G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589262" }, { "coordinates": [ { "allele": "A", "end": 10120, "endIntronDirection": "-", "endIntronOffset": 20, "referenceAllele": "G", "start": 10120, "startIntronDirection": "-", "startIntronOffset": 21 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738813.2:n.10121-21G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589263" }, { "coordinates": [ { "allele": "A", "end": 8501, "endIntronDirection": "-", "endIntronOffset": 20, "referenceAllele": "G", "start": 8501, "startIntronDirection": "-", "startIntronOffset": 21 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738814.2:n.8502-21G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589264" }, { "coordinates": [ { "allele": "A", "end": 8365, "endIntronDirection": "-", "endIntronOffset": 20, "referenceAllele": "G", "start": 8365, "startIntronDirection": "-", "startIntronOffset": 21 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738815.2:n.8366-21G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589265" }, { "coordinates": [ { "allele": "A", "end": 8213, "endIntronDirection": "-", "endIntronOffset": 20, "referenceAllele": "G", "start": 8213, "startIntronDirection": "-", "startIntronOffset": 21 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738816.2:n.8214-21G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589266" }, { "coordinates": [ { "allele": "A", "end": 8213, "endIntronDirection": "+", "endIntronOffset": 22854, "referenceAllele": "G", "start": 8213, "startIntronDirection": "+", "startIntronOffset": 22853 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738817.2:n.8213+22854G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589267" }, { "@id": "http://reg.genome.network/allele/PA916004484", "coordinates": [ { "allele": "T", "end": 23923, "referenceAllele": "C", "start": 23922 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001271208.2:c.23731C>T" ], "proteinEffect": { "hgvs": "NP_001258137.2:p.Gln7911Ter", "hgvsWellDefined": "NP_001258137.2:p.Gln7911_Ile8560delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664134" }, { "@id": "http://reg.genome.network/allele/PA2829544941", "coordinates": [ { "allele": "T", "end": 18715, "referenceAllele": "C", "start": 18714 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_004543.5:c.18523C>T" ], "proteinEffect": { "hgvs": "NP_004534.3:p.Gln6175Ter", "hgvsWellDefined": "NP_004534.3:p.Gln6175_Ile6669delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696177" }, { "@id": "http://reg.genome.network/allele/PA2825986604", "coordinates": [ { "allele": "T", "end": 23818, "referenceAllele": "C", "start": 23817 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164507.2:c.23626C>T" ], "proteinEffect": { "hgvs": "NP_001157979.2:p.Gln7876Ter", "hgvsWellDefined": "NP_001157979.2:p.Gln7876_Ile8525delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713104", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000427231.7:c.23626C>T" }, "RefSeq": { "hgvs": "NM_001164507.2:c.23626C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000416578.2:p.Gln7876Ter" }, "RefSeq": { "hgvs": "NP_001157979.2:p.Gln7876Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825993558", "coordinates": [ { "allele": "T", "end": 23818, "referenceAllele": "C", "start": 23817 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164508.2:c.23626C>T" ], "proteinEffect": { "hgvs": "NP_001157980.2:p.Gln7876Ter", "hgvsWellDefined": "NP_001157980.2:p.Gln7876_Ile8525delinsThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713105", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397345.8:c.23626C>T" }, "RefSeq": { "hgvs": "NM_001164508.2:c.23626C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380505.3:p.Gln7876Ter" }, "RefSeq": { "hgvs": "NP_001157980.2:p.Gln7876Ter" } } } } ], "type": "nucleotide" }