{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA376473544", "communityStandardTitle": [ "NM_003873.7(NRP1):c.1266C>A (p.Tyr422Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.33510663G>T?assembly=hg19", "id": "chr10:g.33510663G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.33221735G>T?assembly=hg38", "id": "chr10:g.33221735G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2229935", "rs": 2229935 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 33221735, "referenceAllele": "G", "start": 33221734 } ], "hgvs": [ "NC_000010.11:g.33221735G>T", "CM000672.2:g.33221735G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 33510663, "referenceAllele": "G", "start": 33510662 } ], "hgvs": [ "NC_000010.10:g.33510663G>T", "CM000672.1:g.33510663G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 33550669, "referenceAllele": "G", "start": 33550668 } ], "hgvs": [ "NC_000010.9:g.33550669G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 118171, "referenceAllele": "C", "start": 118170 } ], "hgvs": [ "NG_030328.1:g.118171C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004885" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1551, "referenceAllele": "C", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "ENST00000374867.7:c.1266C>A" ], "proteinEffect": { "hgvs": "ENSP00000364001.2:p.Tyr422Ter", "hgvsWellDefined": "ENSP00000364001.2:p.Tyr422_Ala923delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751514", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374867.7:c.1266C>A" }, "RefSeq": { "hgvs": "NM_003873.7:c.1266C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364001.2:p.Tyr422Ter" }, "RefSeq": { "hgvs": "NP_003864.5:p.Tyr422Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1792, "referenceAllele": "C", "start": 1791 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "ENST00000265371.8:c.1266C>A" ], "proteinEffect": { "hgvs": "ENSP00000265371.3:p.Tyr422Ter", "hgvsWellDefined": "ENSP00000265371.3:p.Tyr422_Ala923delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251730" }, { "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "C", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "ENST00000374816.7:c.1266C>A" ], "proteinEffect": { "hgvs": "ENSP00000363949.3:p.Tyr422Ter", "hgvsWellDefined": "ENSP00000363949.3:p.Tyr422_Leu641delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluGlyThrIleAsnThrAspGlnGluCysProCysAlaArgAlaLeuAlaLysAspAlaLysLysLysLysArgTrpAlaAspSerThrHisCysArgCysValArgSerIleHisGlyGluMetTrpSerSerGlyLysGlyValCysSerLeuAspAlaAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270429" }, { "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "C", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "ENST00000374821.9:c.1266C>A" ], "proteinEffect": { "hgvs": "ENSP00000363954.5:p.Tyr422Ter", "hgvsWellDefined": "ENSP00000363954.5:p.Tyr422_Lys609delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGlyIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270432" }, { "coordinates": [ { "allele": "A", "end": 1526, "referenceAllele": "C", "start": 1525 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "ENST00000374822.8:c.1266C>A" ], "proteinEffect": { "hgvs": "ENSP00000363955.4:p.Tyr422Ter", "hgvsWellDefined": "ENSP00000363955.4:p.Tyr422_Lys644delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGlyIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270433" }, { "coordinates": [ { "allele": "A", "end": 1266, "referenceAllele": "C", "start": 1265 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "ENST00000374823.9:c.1266C>A" ], "proteinEffect": { "hgvs": "ENSP00000363956.5:p.Tyr422Ter", "hgvsWellDefined": "ENSP00000363956.5:p.Tyr422_Ser704delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyAlaGluThrIlePheIleProLeuLeuTyrHisPheSerSerCysLeuSerTrpAspGlnLeuThrProValCysValLeuValThrProHisGlyArgGluLeuProArgAsnArgSerCysLeuAlaArgThrArgAlaSerSerPheProHisValIleTrpIleAspGluLeuPheLeuIleAlaThrThrIleCysAsnAsnAsnLeuSerHisPheGluSerGlnArgLeuGlyLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270434" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "ENST00000374867.6:c.1266C>A" ], "proteinEffect": { "hgvs": "ENSP00000364001.2:p.Tyr422Ter", "hgvsWellDefined": "ENSP00000364001.2:p.Tyr422_Ala923delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270456" }, { "coordinates": [ { "allele": "A", "end": 1338, "referenceAllele": "C", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "ENST00000374875.5:c.723C>A" ], "proteinEffect": { "hgvs": "ENSP00000364009.1:p.Tyr241Ter", "hgvsWellDefined": "ENSP00000364009.1:p.Tyr241_Ala735delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270461" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "ENST00000395995.5:c.1266C>A" ], "proteinEffect": { "hgvs": "ENSP00000379317.1:p.Tyr422Ter", "hgvsWellDefined": "ENSP00000379317.1:p.Tyr422_Ala906delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaArgSerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277033" }, { "coordinates": [ { "allele": "A", "end": 1813, "referenceAllele": "C", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "ENST00000432372.6:c.1266C>A" ], "proteinEffect": { "hgvs": "ENSP00000408911.2:p.Tyr422Ter", "hgvsWellDefined": "ENSP00000408911.2:p.Tyr422_Lys597delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysValArgAlaGlyAspTrpGluGluValIleProTyrValLeuAspPheAsnGlnGlyProLeuAlaPheSerArgGlyArgAlaSerTyrPheLeuProAlaMetThrLeuGluGluValCysAspGlyValSerLysThrLeuAspSerArgLysThrGlyIleTrpHisGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS292057" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "NM_001024628.2:c.1266C>A" ], "proteinEffect": { "hgvs": "NP_001019799.1:p.Tyr422Ter", "hgvsWellDefined": "NP_001019799.1:p.Tyr422_Lys644delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGlyIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008772" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "NM_001024629.2:c.1266C>A" ], "proteinEffect": { "hgvs": "NP_001019800.1:p.Tyr422Ter", "hgvsWellDefined": "NP_001019800.1:p.Tyr422_Lys609delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGlyIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008773" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "NM_001244972.1:c.1266C>A" ], "proteinEffect": { "hgvs": "NP_001231901.1:p.Tyr422Ter", "hgvsWellDefined": "NP_001231901.1:p.Tyr422_Ala917delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrAlaGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018745" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "NM_001244973.1:c.1266C>A" ], "proteinEffect": { "hgvs": "NP_001231902.1:p.Tyr422Ter", "hgvsWellDefined": "NP_001231902.1:p.Tyr422_Ala916delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018746" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "NM_003873.5:c.1266C>A" ], "proteinEffect": { "hgvs": "NP_003864.4:p.Tyr422Ter", "hgvsWellDefined": "NP_003864.4:p.Tyr422_Ala923delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029088" }, { "coordinates": [ { "allele": "A", "end": 1607, "referenceAllele": "C", "start": 1606 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "NR_045259.1:n.1607C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS051302" }, { "coordinates": [ { "allele": "A", "end": 1563, "referenceAllele": "C", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "XM_006717521.1:c.1266C>A" ], "proteinEffect": { "hgvs": "XP_006717584.1:p.Tyr422Ter", "hgvsWellDefined": "XP_006717584.1:p.Tyr422_Ala924delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrAlaGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072205" }, { "coordinates": [ { "allele": "A", "end": 1563, "referenceAllele": "C", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "XM_006717522.1:c.1266C>A" ], "proteinEffect": { "hgvs": "XP_006717585.1:p.Tyr422Ter", "hgvsWellDefined": "XP_006717585.1:p.Tyr422_Ala907delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrAlaGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaArgSerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072206" }, { "coordinates": [ { "allele": "A", "end": 1563, "referenceAllele": "C", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "XM_006717523.1:c.1266C>A" ], "proteinEffect": { "hgvs": "XP_006717586.1:p.Tyr422Ter", "hgvsWellDefined": "XP_006717586.1:p.Tyr422_Ala906delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaArgSerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072207" }, { "coordinates": [ { "allele": "A", "end": 1563, "referenceAllele": "C", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "XM_006717524.1:c.1266C>A" ], "proteinEffect": { "hgvs": "XP_006717587.1:p.Tyr422Ter", "hgvsWellDefined": "XP_006717587.1:p.Tyr422_Ala889delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrAlaGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072208" }, { "coordinates": [ { "allele": "A", "end": 1563, "referenceAllele": "C", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "XM_006717525.1:c.1266C>A" ], "proteinEffect": { "hgvs": "XP_006717588.1:p.Tyr422Ter", "hgvsWellDefined": "XP_006717588.1:p.Tyr422_Ala888delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072209" }, { "coordinates": [ { "allele": "A", "end": 1563, "referenceAllele": "C", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "XM_006717526.1:c.1266C>A" ], "proteinEffect": { "hgvs": "XP_006717589.1:p.Tyr422Ter", "hgvsWellDefined": "XP_006717589.1:p.Tyr422_Ile663delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerAlaArgLeuGluValSerThrLeuAsnLeuSerLeuHisAsnProProGlnGlnLysAlaLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072210" }, { "coordinates": [ { "allele": "A", "end": 1563, "referenceAllele": "C", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "XM_011519755.1:c.1266C>A" ], "proteinEffect": { "hgvs": "XP_011518057.1:p.Tyr422Ter", "hgvsWellDefined": "XP_011518057.1:p.Tyr422_Ile656delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerAlaArgLeuGluValSerThrLeuAsnLeuSerLeuHisAsnProProGlnGlnLysAlaLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086926" }, { "coordinates": [ { "allele": "A", "end": 1563, "referenceAllele": "C", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "XM_011519756.1:c.1266C>A" ], "proteinEffect": { "hgvs": "XP_011518058.1:p.Tyr422Ter", "hgvsWellDefined": "XP_011518058.1:p.Tyr422_Ile628delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerAlaArgLeuGluValSerThrLeuAsnLeuSerLeuHisAsnProProGlnGlnLysAlaLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086927" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "NM_001330068.1:c.1266C>A" ], "proteinEffect": { "hgvs": "NP_001316997.1:p.Tyr422Ter", "hgvsWellDefined": "NP_001316997.1:p.Tyr422_Ala906delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaArgSerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516487" }, { "coordinates": [ { "allele": "A", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "XM_006717521.2:c.1266C>A" ], "proteinEffect": { "hgvs": "XP_006717584.1:p.Tyr422Ter", "hgvsWellDefined": "XP_006717584.1:p.Tyr422_Ala924delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrAlaGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539434" }, { "coordinates": [ { "allele": "A", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "XM_006717522.2:c.1266C>A" ], "proteinEffect": { "hgvs": "XP_006717585.1:p.Tyr422Ter", "hgvsWellDefined": "XP_006717585.1:p.Tyr422_Ala907delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrAlaGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaArgSerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539435" }, { "coordinates": [ { "allele": "A", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "XM_006717524.2:c.1266C>A" ], "proteinEffect": { "hgvs": "XP_006717587.1:p.Tyr422Ter", "hgvsWellDefined": "XP_006717587.1:p.Tyr422_Ala889delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrAlaGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539436" }, { "coordinates": [ { "allele": "A", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "XM_006717525.2:c.1266C>A" ], "proteinEffect": { "hgvs": "XP_006717588.1:p.Tyr422Ter", "hgvsWellDefined": "XP_006717588.1:p.Tyr422_Ala888delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539437" }, { "coordinates": [ { "allele": "A", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "XM_006717526.2:c.1266C>A" ], "proteinEffect": { "hgvs": "XP_006717589.1:p.Tyr422Ter", "hgvsWellDefined": "XP_006717589.1:p.Tyr422_Ile663delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerAlaArgLeuGluValSerThrLeuAsnLeuSerLeuHisAsnProProGlnGlnLysAlaLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539438" }, { "coordinates": [ { "allele": "A", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "XM_011519755.3:c.1266C>A" ], "proteinEffect": { "hgvs": "XP_011518057.1:p.Tyr422Ter", "hgvsWellDefined": "XP_011518057.1:p.Tyr422_Ile656delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerAlaArgLeuGluValSerThrLeuAsnLeuSerLeuHisAsnProProGlnGlnLysAlaLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545472" }, { "coordinates": [ { "allele": "A", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "XM_011519756.2:c.1266C>A" ], "proteinEffect": { "hgvs": "XP_011518058.1:p.Tyr422Ter", "hgvsWellDefined": "XP_011518058.1:p.Tyr422_Ile628delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerAlaArgLeuGluValSerThrLeuAsnLeuSerLeuHisAsnProProGlnGlnLysAlaLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545473" }, { "coordinates": [ { "allele": "A", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "XM_017016865.2:c.1266C>A" ], "proteinEffect": { "hgvs": "XP_016872354.1:p.Tyr422Ter", "hgvsWellDefined": "XP_016872354.1:p.Tyr422_Ala899delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaArgSerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569182" }, { "coordinates": [ { "allele": "A", "end": 1333, "referenceAllele": "C", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "XM_017016866.2:c.723C>A" ], "proteinEffect": { "hgvs": "XP_016872355.1:p.Tyr241Ter", "hgvsWellDefined": "XP_016872355.1:p.Tyr241_Ala742delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569183" }, { "coordinates": [ { "allele": "A", "end": 1551, "referenceAllele": "C", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "NM_003873.6:c.1266C>A" ], "proteinEffect": { "hgvs": "NP_003864.4:p.Tyr422Ter", "hgvsWellDefined": "NP_003864.4:p.Tyr422_Ala923delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666223" }, { "coordinates": [ { "allele": "A", "end": 1551, "referenceAllele": "C", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "NM_001024628.3:c.1266C>A" ], "proteinEffect": { "hgvs": "NP_001019799.2:p.Tyr422Ter", "hgvsWellDefined": "NP_001019799.2:p.Tyr422_Lys644delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGlyIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711436" }, { "coordinates": [ { "allele": "A", "end": 1551, "referenceAllele": "C", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "NM_001024629.3:c.1266C>A" ], "proteinEffect": { "hgvs": "NP_001019800.2:p.Tyr422Ter", "hgvsWellDefined": "NP_001019800.2:p.Tyr422_Lys609delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGlyIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711437" }, { "coordinates": [ { "allele": "A", "end": 1551, "referenceAllele": "C", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "NM_001244972.2:c.1266C>A" ], "proteinEffect": { "hgvs": "NP_001231901.2:p.Tyr422Ter", "hgvsWellDefined": "NP_001231901.2:p.Tyr422_Ala917delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrAlaGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714574" }, { "coordinates": [ { "allele": "A", "end": 1551, "referenceAllele": "C", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "NM_001244973.2:c.1266C>A" ], "proteinEffect": { "hgvs": "NP_001231902.2:p.Tyr422Ter", "hgvsWellDefined": "NP_001231902.2:p.Tyr422_Ala916delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714575" }, { "coordinates": [ { "allele": "A", "end": 1551, "referenceAllele": "C", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "NM_001330068.2:c.1266C>A" ], "proteinEffect": { "hgvs": "NP_001316997.2:p.Tyr422Ter", "hgvsWellDefined": "NP_001316997.2:p.Tyr422_Ala906delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaArgSerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718587" }, { "@id": "http://reg.genome.network/allele/PA3076679900", "coordinates": [ { "allele": "A", "end": 1551, "referenceAllele": "C", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "NM_003873.7:c.1266C>A" ], "proteinEffect": { "hgvs": "NP_003864.5:p.Tyr422Ter", "hgvsWellDefined": "NP_003864.5:p.Tyr422_Ala923delinsGlyCysLysIleThrAspTyrProCysSerGlyMetLeuGlyMetValSerGlyLeuIleSerAspSerGlnIleThrSerSerAsnGlnGlyAspArgAsnTrpMetProGluAsnIleArgLeuValThrSerArgSerGlyTrpAlaLeuProProAlaProHisSerTyrIleAsnGluTrpLeuGlnIleAspLeuGlyGluGluLysIleValArgGlyIleIleIleGlnGlyGlyLysHisArgGluAsnLysValPheMetArgLysPheLysIleGlyTyrSerAsnAsnGlySerAspTrpLysMetIleMetAspAspSerLysArgLysAlaLysSerPheGluGlyAsnAsnAsnTyrAspThrProGluLeuArgThrPheProAlaLeuSerThrArgPheIleArgIleTyrProGluArgAlaThrHisGlyGlyLeuGlyLeuArgMetGluLeuLeuGlyCysGluValGluAlaProThrAlaGlyProThrThrProAsnGlyAsnLeuValAspGluCysAspAspAspGlnAlaAsnCysHisSerGlyThrGlyAspAspPheGlnLeuThrGlyGlyThrThrValLeuAlaThrGluLysProThrValIleAspSerThrIleGlnSerGluPheProThrTyrGlyPheAsnCysGluPheGlyTrpGlySerHisLysThrPheCysHisTrpGluHisAspAsnHisValGlnLeuLysTrpSerValLeuThrSerLysThrGlyProIleGlnAspHisThrGlyAspGlyAsnPheIleTyrSerGlnAlaAspGluAsnGlnLysGlyLysValAlaArgLeuValSerProValValTyrSerGlnAsnSerAlaHisCysMetThrPheTrpTyrHisMetSerGlySerHisValGlyThrLeuArgValLysLeuArgTyrGlnLysProGluGluTyrAspGlnLeuValTrpMetAlaIleGlyHisGlnGlyAspHisTrpLysGluGlyArgValLeuLeuHisLysSerLeuLysLeuTyrGlnValIlePheGluGlyGluIleGlyLysGlyAsnLeuGlyGlyIleAlaValAspAspIleSerIleAsnAsnHisIleSerGlnGluAspCysAlaLysProAlaAspLeuAspLysLysAsnProGluIleLysIleAspGluThrGlySerThrProGlyTyrGluGlyGluGlyGluGlyAspLysAsnIleSerArgLysProGlyAsnValLeuLysThrLeuAspProIleLeuIleThrIleIleAlaMetSerAlaLeuGlyValLeuLeuGlyAlaValCysGlyValValLeuTyrCysAlaCysTrpHisAsnGlyMetSerGluArgAsnLeuSerAlaLeuGluAsnTyrAsnPheGluLeuValAspGlyValLysLeuLysLysAspLysLeuAsnThrGlnSerThrTyrSerGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727446", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374867.7:c.1266C>A" }, "RefSeq": { "hgvs": "NM_003873.7:c.1266C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364001.2:p.Tyr422Ter" }, "RefSeq": { "hgvs": "NP_003864.5:p.Tyr422Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1369, "referenceAllele": "C", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN008004", "geneNCBI_id": 8829, "geneSymbol": "NRP1", "hgvs": [ "NR_045259.2:n.1369C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS730394" } ], "type": "nucleotide" }