{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1906552", "communityStandardTitle": [ "NM_001164508.2(NEB):c.22711A>T (p.Lys7571Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3039775[alleleid]", "alleleId": 3039775, "preferredName": "NM_001164508.2(NEB):c.22711A>T (p.Lys7571Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2881216", "RCV": [ "RCV003628845" ], "variationId": 2881216 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-152374921-T-A", "id": "2-152374921-T-A", "variant": "2:152374921 T / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.152374921T>A?assembly=hg19", "id": "chr2:g.152374921T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.151518407T>A?assembly=hg38", "id": "chr2:g.151518407T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/748990736", "rs": 748990736 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-152374921-T-A?dataset=gnomad_r2_1", "id": "2-152374921-T-A", "variant": "2:152374921 T / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-151518407-T-A?dataset=gnomad_r4", "id": "2-151518407-T-A", "variant": "2:151518407 T / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 151518407, "referenceAllele": "T", "start": 151518406 } ], "hgvs": [ "NC_000002.12:g.151518407T>A", "CM000664.2:g.151518407T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 152374921, "referenceAllele": "T", "start": 152374920 } ], "hgvs": [ "NC_000002.11:g.152374921T>A", "CM000664.1:g.152374921T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 152083167, "referenceAllele": "T", "start": 152083166 } ], "hgvs": [ "NC_000002.10:g.152083167T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 221081, "referenceAllele": "A", "start": 221080 } ], "hgvs": [ "NG_009382.2:g.221081A>T", "LRG_202:g.221081A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001584" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2154, "referenceAllele": "A", "start": 2153 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000434685.6:c.2154A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS824863" }, { "coordinates": [ { "allele": "T", "end": 501, "referenceAllele": "A", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000688161.1:n.501A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831471" }, { "coordinates": [ { "allele": "T", "end": 5562, "referenceAllele": "A", "start": 5561 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000690043.1:c.5562A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832505" }, { "coordinates": [ { "allele": "T", "end": 1736, "referenceAllele": "A", "start": 1735 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000693000.1:n.1736A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS834010" }, { "coordinates": [ { "allele": "T", "end": 1509, "referenceAllele": "A", "start": 1508 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000693286.1:c.1509A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS834164" }, { "coordinates": [ { "allele": "T", "end": 22903, "referenceAllele": "A", "start": 22902 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000397345.8:c.22711A>T" ], "proteinEffect": { "hgvs": "ENSP00000380505.3:p.Lys7571Ter", "hgvsWellDefined": "ENSP00000380505.3:p.Lys7571_Ile8525delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753632", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397345.8:c.22711A>T" }, "RefSeq": { "hgvs": "NM_001164508.2:c.22711A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380505.3:p.Lys7571Ter" }, "RefSeq": { "hgvs": "NP_001157980.2:p.Lys7571Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 22903, "referenceAllele": "A", "start": 22902 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000427231.7:c.22711A>T" ], "proteinEffect": { "hgvs": "ENSP00000416578.2:p.Lys7571Ter", "hgvsWellDefined": "ENSP00000416578.2:p.Lys7571_Ile8525delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755169", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000427231.7:c.22711A>T" }, "RefSeq": { "hgvs": "NM_001164507.2:c.22711A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000416578.2:p.Lys7571Ter" }, "RefSeq": { "hgvs": "NP_001157979.2:p.Lys7571Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 17811, "referenceAllele": "A", "start": 17810 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000172853.14:c.17608A>T" ], "proteinEffect": { "hgvs": "ENSP00000172853.10:p.Lys5870Ter", "hgvsWellDefined": "ENSP00000172853.10:p.Lys5870_Ile6669delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247675" }, { "coordinates": [ { "allele": "T", "end": 22914, "referenceAllele": "A", "start": 22913 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000397345.7:c.22711A>T" ], "proteinEffect": { "hgvs": "ENSP00000380505.3:p.Lys7571Ter", "hgvsWellDefined": "ENSP00000380505.3:p.Lys7571_Ile8525delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277752" }, { "coordinates": [ { "allele": "T", "end": 17811, "referenceAllele": "A", "start": 17810 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000409198.5:c.17608A>T" ], "proteinEffect": { "hgvs": "ENSP00000386259.1:p.Lys5870Ter", "hgvsWellDefined": "ENSP00000386259.1:p.Lys5870_Ile6669delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281341" }, { "coordinates": [ { "allele": "T", "end": 6901, "referenceAllele": "A", "start": 6900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000413693.5:c.6901A>T" ], "proteinEffect": { "hgvs": "ENSP00000410961.1:p.Lys2301Ter", "hgvsWellDefined": "ENSP00000410961.1:p.Lys2301_Ile3007delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS283187" }, { "coordinates": [ { "allele": "T", "end": 22914, "referenceAllele": "A", "start": 22913 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000427231.6:c.22711A>T" ], "proteinEffect": { "hgvs": "ENSP00000416578.2:p.Lys7571Ter", "hgvsWellDefined": "ENSP00000416578.2:p.Lys7571_Ile8525delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS289597" }, { "coordinates": [ { "allele": "T", "end": 579, "referenceAllele": "A", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000434685.5:c.579A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS293160" }, { "coordinates": [ { "allele": "T", "end": 449, "referenceAllele": "A", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000483418.1:n.449A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322894" }, { "coordinates": [ { "allele": "T", "end": 22711, "referenceAllele": "A", "start": 22710 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000603639.5:c.22711A>T" ], "proteinEffect": { "hgvs": "ENSP00000473894.1:p.Lys7571Ter", "hgvsWellDefined": "ENSP00000473894.1:p.Lys7571_Ile8525delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS398690" }, { "coordinates": [ { "allele": "T", "end": 22711, "referenceAllele": "A", "start": 22710 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000604864.5:c.22711A>T" ], "proteinEffect": { "hgvs": "ENSP00000474498.1:p.Lys7571Ter", "hgvsWellDefined": "ENSP00000474498.1:p.Lys7571_Ile8525delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS399216" }, { "coordinates": [ { "allele": "T", "end": 23019, "referenceAllele": "A", "start": 23018 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "ENST00000618972.4:c.22816A>T" ], "proteinEffect": { "hgvs": "ENSP00000484342.1:p.Lys7606Ter", "hgvsWellDefined": "ENSP00000484342.1:p.Lys7606_Ile8560delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404172" }, { "coordinates": [ { "allele": "T", "end": 22914, "referenceAllele": "A", "start": 22913 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164507.1:c.22711A>T" ], "proteinEffect": { "hgvs": "NP_001157979.1:p.Lys7571Ter", "hgvsWellDefined": "NP_001157979.1:p.Lys7571_Ile8525delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014569" }, { "coordinates": [ { "allele": "T", "end": 22914, "referenceAllele": "A", "start": 22913 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164508.1:c.22711A>T" ], "proteinEffect": { "hgvs": "NP_001157980.1:p.Lys7571Ter", "hgvsWellDefined": "NP_001157980.1:p.Lys7571_Ile8525delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014570" }, { "coordinates": [ { "allele": "T", "end": 23019, "referenceAllele": "A", "start": 23018 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001271208.1:c.22816A>T", "LRG_202t1:c.22816A>T" ], "proteinEffect": { "hgvs": "NP_001258137.1:p.Lys7606Ter", "hgvsWellDefined": "NP_001258137.1:p.Lys7606_Ile8560delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020514" }, { "coordinates": [ { "allele": "T", "end": 17811, "referenceAllele": "A", "start": 17810 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_004543.4:c.17608A>T" ], "proteinEffect": { "hgvs": "NP_004534.2:p.Lys5870Ter", "hgvsWellDefined": "NP_004534.2:p.Lys5870_Ile6669delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029700" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246590.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246647.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246647.1:p.Lys7571_Ile8494delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057686" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246591.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246648.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246648.1:p.Lys7571_Ile8494delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057687" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246592.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246649.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246649.1:p.Lys7571_Ile8494delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057688" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246593.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246650.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246650.1:p.Lys7571_Ile8494delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057689" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246594.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246651.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246651.1:p.Lys7571_Ile8494delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057690" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246595.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246652.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246652.1:p.Lys7571_Ile8494delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057691" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246596.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246653.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246653.1:p.Lys7571_Ile8463delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057692" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246597.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246654.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246654.1:p.Lys7571_Ile8463delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057693" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246598.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246655.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246655.1:p.Lys7571_Ile8463delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057694" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246599.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246656.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246656.1:p.Lys7571_Ile8432delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057695" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246600.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246657.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246657.1:p.Lys7571_Ile8432delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057696" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246601.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246658.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246658.1:p.Lys7571_Ile8401delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057697" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246602.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246659.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246659.1:p.Lys7571_Ile8401delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057698" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246603.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246660.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246660.1:p.Lys7571_Ile8370delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057699" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246604.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246661.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246661.1:p.Lys7571_Ile8370delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057700" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246606.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246663.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246663.1:p.Lys7571_Ile8370delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057701" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246608.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246665.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246665.1:p.Lys7571_Ile8339delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057702" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246610.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246667.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246667.1:p.Lys7571_Ile8308delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057703" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246611.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246668.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246668.1:p.Lys7571_Ile8308delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057704" }, { "coordinates": [ { "allele": "T", "end": 22172, "referenceAllele": "A", "start": 22171 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246612.1:c.21982A>T" ], "proteinEffect": { "hgvs": "XP_005246669.1:p.Lys7328Ter", "hgvsWellDefined": "XP_005246669.1:p.Lys7328_Ile8282delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057705" }, { "coordinates": [ { "allele": "T", "end": 22172, "referenceAllele": "A", "start": 22171 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246613.1:c.21982A>T" ], "proteinEffect": { "hgvs": "XP_005246670.1:p.Lys7328Ter", "hgvsWellDefined": "XP_005246670.1:p.Lys7328_Ile8282delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057706" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246615.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246672.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246672.1:p.Lys7571_Ile8277delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057707" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246616.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246673.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246673.1:p.Lys7571_Thr8018delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValPheTrpLysGluArgGlyLysAsnAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057708" }, { "coordinates": [ { "allele": "T", "end": 19985, "referenceAllele": "A", "start": 19984 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246617.1:c.19795A>T" ], "proteinEffect": { "hgvs": "XP_005246674.1:p.Lys6599Ter", "hgvsWellDefined": "XP_005246674.1:p.Lys6599_Ile7553delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057709" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712541.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_006712604.1:p.Lys7571Ter", "hgvsWellDefined": "XP_006712604.1:p.Lys7571_Ile8370delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069699" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712542.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_006712605.1:p.Lys7571Ter", "hgvsWellDefined": "XP_006712605.1:p.Lys7571_Ile8370delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069700" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511224.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_011509526.1:p.Lys7571Ter", "hgvsWellDefined": "XP_011509526.1:p.Lys7571_Ile8494delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078485" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511225.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_011509527.1:p.Lys7571Ter", "hgvsWellDefined": "XP_011509527.1:p.Lys7571_Ile8277delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078486" }, { "coordinates": [ { "allele": "T", "end": 20714, "referenceAllele": "A", "start": 20713 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511226.1:c.20524A>T" ], "proteinEffect": { "hgvs": "XP_011509528.1:p.Lys6842Ter", "hgvsWellDefined": "XP_011509528.1:p.Lys6842_Ile7796delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078487" }, { "coordinates": [ { "allele": "T", "end": 18527, "referenceAllele": "A", "start": 18526 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511227.1:c.18337A>T" ], "proteinEffect": { "hgvs": "XP_011509529.1:p.Lys6113Ter", "hgvsWellDefined": "XP_011509529.1:p.Lys6113_Ile7067delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078488" }, { "coordinates": [ { "allele": "A", "end": 7838, "endIntronDirection": "-", "endIntronOffset": 15525, "referenceAllele": "T", "start": 7838, "startIntronDirection": "-", "startIntronOffset": 15526 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_922955.1:n.7839-15526T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS120017" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246590.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246647.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246647.1:p.Lys7571_Ile8494delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532631" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246591.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246648.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246648.1:p.Lys7571_Ile8494delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532632" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246592.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246649.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246649.1:p.Lys7571_Ile8494delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532633" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246593.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246650.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246650.1:p.Lys7571_Ile8494delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532634" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246594.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246651.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246651.1:p.Lys7571_Ile8494delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532635" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246596.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246653.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246653.1:p.Lys7571_Ile8463delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532636" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246597.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246654.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246654.1:p.Lys7571_Ile8463delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532637" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246598.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246655.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246655.1:p.Lys7571_Ile8463delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532638" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246599.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246656.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246656.1:p.Lys7571_Ile8432delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532639" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246601.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246658.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246658.1:p.Lys7571_Ile8401delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532640" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246602.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246659.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246659.1:p.Lys7571_Ile8401delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532641" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246603.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246660.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246660.1:p.Lys7571_Ile8370delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532642" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246604.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246661.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246661.1:p.Lys7571_Ile8370delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532643" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246606.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246663.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246663.1:p.Lys7571_Ile8370delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532644" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246608.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246665.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246665.1:p.Lys7571_Ile8339delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532645" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246610.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246667.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246667.1:p.Lys7571_Ile8308delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532646" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246611.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246668.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246668.1:p.Lys7571_Ile8308delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532647" }, { "coordinates": [ { "allele": "T", "end": 22172, "referenceAllele": "A", "start": 22171 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246612.2:c.21982A>T" ], "proteinEffect": { "hgvs": "XP_005246669.1:p.Lys7328Ter", "hgvsWellDefined": "XP_005246669.1:p.Lys7328_Ile8282delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532648" }, { "coordinates": [ { "allele": "T", "end": 22172, "referenceAllele": "A", "start": 22171 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246613.2:c.21982A>T" ], "proteinEffect": { "hgvs": "XP_005246670.1:p.Lys7328Ter", "hgvsWellDefined": "XP_005246670.1:p.Lys7328_Ile8282delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532649" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246615.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_005246672.1:p.Lys7571Ter", "hgvsWellDefined": "XP_005246672.1:p.Lys7571_Ile8277delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532650" }, { "coordinates": [ { "allele": "T", "end": 19985, "referenceAllele": "A", "start": 19984 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_005246617.2:c.19795A>T" ], "proteinEffect": { "hgvs": "XP_005246674.1:p.Lys6599Ter", "hgvsWellDefined": "XP_005246674.1:p.Lys6599_Ile7553delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532651" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712541.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_006712604.1:p.Lys7571Ter", "hgvsWellDefined": "XP_006712604.1:p.Lys7571_Ile8370delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538289" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_006712542.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_006712605.1:p.Lys7571Ter", "hgvsWellDefined": "XP_006712605.1:p.Lys7571_Ile8370delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538290" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511225.2:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_011509527.1:p.Lys7571Ter", "hgvsWellDefined": "XP_011509527.1:p.Lys7571_Ile8277delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542052" }, { "coordinates": [ { "allele": "T", "end": 20714, "referenceAllele": "A", "start": 20713 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511226.2:c.20524A>T" ], "proteinEffect": { "hgvs": "XP_011509528.1:p.Lys6842Ter", "hgvsWellDefined": "XP_011509528.1:p.Lys6842_Ile7796delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542053" }, { "coordinates": [ { "allele": "T", "end": 18527, "referenceAllele": "A", "start": 18526 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_011511227.2:c.18337A>T" ], "proteinEffect": { "hgvs": "XP_011509529.1:p.Lys6113Ter", "hgvsWellDefined": "XP_011509529.1:p.Lys6113_Ile7067delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542054" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004177.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_016859666.1:p.Lys7571Ter", "hgvsWellDefined": "XP_016859666.1:p.Lys7571_Ile8488delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559755" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004178.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_016859667.1:p.Lys7571Ter", "hgvsWellDefined": "XP_016859667.1:p.Lys7571_Ile8463delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559756" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004179.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_016859668.1:p.Lys7571Ter", "hgvsWellDefined": "XP_016859668.1:p.Lys7571_Ile8370delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559757" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004180.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_016859669.1:p.Lys7571Ter", "hgvsWellDefined": "XP_016859669.1:p.Lys7571_Ile8370delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559758" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004181.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_016859670.1:p.Lys7571Ter", "hgvsWellDefined": "XP_016859670.1:p.Lys7571_Ile8339delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559759" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004182.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_016859671.1:p.Lys7571Ter", "hgvsWellDefined": "XP_016859671.1:p.Lys7571_Ile8308delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559760" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004183.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_016859672.1:p.Lys7571Ter", "hgvsWellDefined": "XP_016859672.1:p.Lys7571_Ile8277delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559761" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004184.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_016859673.1:p.Lys7571Ter", "hgvsWellDefined": "XP_016859673.1:p.Lys7571_Ile8277delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559762" }, { "coordinates": [ { "allele": "T", "end": 22901, "referenceAllele": "A", "start": 22900 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "XM_017004185.1:c.22711A>T" ], "proteinEffect": { "hgvs": "XP_016859674.1:p.Lys7571Ter", "hgvsWellDefined": "XP_016859674.1:p.Lys7571_Ile8184delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559763" }, { "coordinates": [ { "allele": "A", "end": 8213, "endIntronDirection": "-", "endIntronOffset": 15525, "referenceAllele": "T", "start": 8213, "startIntronDirection": "-", "startIntronOffset": 15526 } ], "gene": "http://reg.genome.network/gene/GN023207", "geneNCBI_id": 55183, "geneSymbol": "RIF1", "hgvs": [ "XR_001738817.2:n.8214-15526T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589267" }, { "@id": "http://reg.genome.network/allele/PA2741846522", "coordinates": [ { "allele": "T", "end": 23008, "referenceAllele": "A", "start": 23007 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001271208.2:c.22816A>T" ], "proteinEffect": { "hgvs": "NP_001258137.2:p.Lys7606Ter", "hgvsWellDefined": "NP_001258137.2:p.Lys7606_Ile8560delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664134" }, { "@id": "http://reg.genome.network/allele/PA2829544630", "coordinates": [ { "allele": "T", "end": 17800, "referenceAllele": "A", "start": 17799 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_004543.5:c.17608A>T" ], "proteinEffect": { "hgvs": "NP_004534.3:p.Lys5870Ter", "hgvsWellDefined": "NP_004534.3:p.Lys5870_Ile6669delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696177" }, { "@id": "http://reg.genome.network/allele/PA2825986365", "coordinates": [ { "allele": "T", "end": 22903, "referenceAllele": "A", "start": 22902 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164507.2:c.22711A>T" ], "proteinEffect": { "hgvs": "NP_001157979.2:p.Lys7571Ter", "hgvsWellDefined": "NP_001157979.2:p.Lys7571_Ile8525delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713104", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000427231.7:c.22711A>T" }, "RefSeq": { "hgvs": "NM_001164507.2:c.22711A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000416578.2:p.Lys7571Ter" }, "RefSeq": { "hgvs": "NP_001157979.2:p.Lys7571Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825993319", "coordinates": [ { "allele": "T", "end": 22903, "referenceAllele": "A", "start": 22902 } ], "gene": "http://reg.genome.network/gene/GN007720", "geneNCBI_id": 4703, "geneSymbol": "NEB", "hgvs": [ "NM_001164508.2:c.22711A>T" ], "proteinEffect": { "hgvs": "NP_001157980.2:p.Lys7571Ter", "hgvsWellDefined": "NP_001157980.2:p.Lys7571_Ile8525delinsTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713105", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000397345.8:c.22711A>T" }, "RefSeq": { "hgvs": "NM_001164508.2:c.22711A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380505.3:p.Lys7571Ter" }, "RefSeq": { "hgvs": "NP_001157980.2:p.Lys7571Ter" } } } } ], "type": "nucleotide" }