{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA373851694", "communityStandardTitle": [ "NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1017213[alleleid]", "alleleId": 1017213, "preferredName": "NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1028515", "RCV": [ "RCV001329575" ], "variationId": 1028515 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.79955137C>A?assembly=hg19", "id": "chr9:g.79955137C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.77340221C>A?assembly=hg38", "id": "chr9:g.77340221C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1830740171", "rs": 1830740171 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 77340221, "referenceAllele": "C", "start": 77340220 } ], "hgvs": [ "NC_000009.12:g.77340221C>A", "CM000671.2:g.77340221C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 79955137, "referenceAllele": "C", "start": 79955136 } ], "hgvs": [ "NC_000009.11:g.79955137C>A", "CM000671.1:g.79955137C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 79144957, "referenceAllele": "C", "start": 79144956 } ], "hgvs": [ "NC_000009.10:g.79144957C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 167777, "referenceAllele": "C", "start": 167776 } ], "hgvs": [ "NG_008931.1:g.167777C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001309" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 6989, "referenceAllele": "C", "start": 6988 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "ENST00000360280.8:c.6818C>A" ], "proteinEffect": { "hgvs": "ENSP00000353422.3:p.Ser2273Ter", "hgvsWellDefined": "ENSP00000353422.3:p.Ser2273_Leu3174delinsIleAspThrValGlySerHisGlyAlaValLysCysLysGlyLeuLysMetAspTyrGlnValGlyValThrIleAspLeuSerSerPheAsnIleThrArgIleValThrPheThrProPheTyrMetIleLysAsnLysSerLysTyrHisIleSerValAlaGluGluGlyAsnAspLysTrpLeuSerLeuAspLeuGluGlnCysIleProPheTrpProGluTyrAlaSerSerLysLeuLeuIleGlnValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360280.8:c.6818C>A" }, "RefSeq": { "hgvs": "NM_033305.3:c.6818C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353422.3:p.Ser2273Ter" }, "RefSeq": { "hgvs": "NP_150648.2:p.Ser2273Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 6987, "referenceAllele": "C", "start": 6986 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "ENST00000643348.1:c.6818C>A" ], "proteinEffect": { "hgvs": "ENSP00000493592.1:p.Ser2273Ter", "hgvsWellDefined": "ENSP00000493592.1:p.Ser2273_His3095delinsIleAspThrValGlySerHisGlyAlaValLysCysLysGlyLeuLysMetAspTyrGlnValGlyValThrIleAspLeuSerSerPheAsnIleThrArgIleValThrPheThrProPheTyrMetIleLysAsnLysSerLysTyrHisIleSerValAlaGluGluGlyAsnAspLysTrpLeuSerLeuAspLeuGluGlnCysIleProPheTrpProGluTyrAlaSerSerLysLeuLeuIleGlnValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnLysIleGlnPheTyrArgGluTrpIleMetThrHisSerSerSerSerAspAspAspAspAspAspAspAspAspAspGluSerAspLeuAsnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767231" }, { "coordinates": [ { "allele": "A", "end": 6987, "referenceAllele": "C", "start": 6986 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "ENST00000645632.1:c.6818C>A" ], "proteinEffect": { "hgvs": "ENSP00000496361.1:p.Ser2273Ter", "hgvsWellDefined": "ENSP00000496361.1:p.Ser2273_Ile3069delinsIleAspThrValGlySerHisGlyAlaValLysCysLysGlyLeuLysMetAspTyrGlnValGlyValThrIleAspLeuSerSerPheAsnIleThrArgIleValThrPheThrProPheTyrMetIleLysAsnLysSerLysTyrHisIleSerValAlaGluGluGlyAsnAspLysTrpLeuSerLeuAspLeuGluGlnCysIleProPheTrpProGluTyrAlaSerSerLysLeuLeuIleGlnValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnAlaSerLysSerLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768467" }, { "coordinates": [ { "allele": "A", "end": 6989, "referenceAllele": "C", "start": 6988 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "ENST00000357409.9:c.6818C>A" ], "proteinEffect": { "hgvs": "ENSP00000349985.5:p.Ser2273Ter", "hgvsWellDefined": "ENSP00000349985.5:p.Ser2273_His3095delinsIleAspThrValGlySerHisGlyAlaValLysCysLysGlyLeuLysMetAspTyrGlnValGlyValThrIleAspLeuSerSerPheAsnIleThrArgIleValThrPheThrProPheTyrMetIleLysAsnLysSerLysTyrHisIleSerValAlaGluGluGlyAsnAspLysTrpLeuSerLeuAspLeuGluGlnCysIleProPheTrpProGluTyrAlaSerSerLysLeuLeuIleGlnValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnLysIleGlnPheTyrArgGluTrpIleMetThrHisSerSerSerSerAspAspAspAspAspAspAspAspAspAspGluSerAspLeuAsnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264092" }, { "coordinates": [ { "allele": "A", "end": 7078, "referenceAllele": "C", "start": 7077 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "ENST00000360280.7:c.6818C>A" ], "proteinEffect": { "hgvs": "ENSP00000353422.3:p.Ser2273Ter", "hgvsWellDefined": "ENSP00000353422.3:p.Ser2273_Leu3174delinsIleAspThrValGlySerHisGlyAlaValLysCysLysGlyLeuLysMetAspTyrGlnValGlyValThrIleAspLeuSerSerPheAsnIleThrArgIleValThrPheThrProPheTyrMetIleLysAsnLysSerLysTyrHisIleSerValAlaGluGluGlyAsnAspLysTrpLeuSerLeuAspLeuGluGlnCysIleProPheTrpProGluTyrAlaSerSerLysLeuLeuIleGlnValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265076" }, { "coordinates": [ { "allele": "A", "end": 7170, "referenceAllele": "C", "start": 7169 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "ENST00000376634.8:c.6818C>A" ], "proteinEffect": { "hgvs": "ENSP00000365821.4:p.Ser2273Ter", "hgvsWellDefined": "ENSP00000365821.4:p.Ser2273_Ile3069delinsIleAspThrValGlySerHisGlyAlaValLysCysLysGlyLeuLysMetAspTyrGlnValGlyValThrIleAspLeuSerSerPheAsnIleThrArgIleValThrPheThrProPheTyrMetIleLysAsnLysSerLysTyrHisIleSerValAlaGluGluGlyAsnAspLysTrpLeuSerLeuAspLeuGluGlnCysIleProPheTrpProGluTyrAlaSerSerLysLeuLeuIleGlnValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnAlaSerLysSerLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271249" }, { "coordinates": [ { "allele": "A", "end": 6961, "referenceAllele": "C", "start": 6960 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "ENST00000376636.7:c.6701C>A" ], "proteinEffect": { "hgvs": "ENSP00000365823.3:p.Ser2234Ter", "hgvsWellDefined": "ENSP00000365823.3:p.Ser2234_Leu3135delinsIleAspThrValGlySerHisGlyAlaValLysCysLysGlyLeuLysMetAspTyrGlnValGlyValThrIleAspLeuSerSerPheAsnIleThrArgIleValThrPheThrProPheTyrMetIleLysAsnLysSerLysTyrHisIleSerValAlaGluGluGlyAsnAspLysTrpLeuSerLeuAspLeuGluGlnCysIleProPheTrpProGluTyrAlaSerSerLysLeuLeuIleGlnValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271250" }, { "coordinates": [ { "allele": "A", "end": 21, "referenceAllele": "C", "start": 20 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "ENST00000539950.1:n.21C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS362143" }, { "@id": "http://reg.genome.network/allele/PA2825323243", "coordinates": [ { "allele": "A", "end": 6961, "referenceAllele": "C", "start": 6960 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "NM_001018037.1:c.6701C>A" ], "proteinEffect": { "hgvs": "NP_001018047.1:p.Ser2234Ter", "hgvsWellDefined": "NP_001018047.1:p.Ser2234_Leu3135delinsIleAspThrValGlySerHisGlyAlaValLysCysLysGlyLeuLysMetAspTyrGlnValGlyValThrIleAspLeuSerSerPheAsnIleThrArgIleValThrPheThrProPheTyrMetIleLysAsnLysSerLysTyrHisIleSerValAlaGluGluGlyAsnAspLysTrpLeuSerLeuAspLeuGluGlnCysIleProPheTrpProGluTyrAlaSerSerLysLeuLeuIleGlnValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008657" }, { "@id": "http://reg.genome.network/allele/PA2825324821", "coordinates": [ { "allele": "A", "end": 7078, "referenceAllele": "C", "start": 7077 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "NM_001018038.2:c.6818C>A" ], "proteinEffect": { "hgvs": "NP_001018048.1:p.Ser2273Ter", "hgvsWellDefined": "NP_001018048.1:p.Ser2273_Ile3069delinsIleAspThrValGlySerHisGlyAlaValLysCysLysGlyLeuLysMetAspTyrGlnValGlyValThrIleAspLeuSerSerPheAsnIleThrArgIleValThrPheThrProPheTyrMetIleLysAsnLysSerLysTyrHisIleSerValAlaGluGluGlyAsnAspLysTrpLeuSerLeuAspLeuGluGlnCysIleProPheTrpProGluTyrAlaSerSerLysLeuLeuIleGlnValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnAlaSerLysSerLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008658" }, { "@id": "http://reg.genome.network/allele/PA2829812646", "coordinates": [ { "allele": "A", "end": 7078, "referenceAllele": "C", "start": 7077 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "NM_015186.3:c.6818C>A" ], "proteinEffect": { "hgvs": "NP_056001.1:p.Ser2273Ter", "hgvsWellDefined": "NP_056001.1:p.Ser2273_His3095delinsIleAspThrValGlySerHisGlyAlaValLysCysLysGlyLeuLysMetAspTyrGlnValGlyValThrIleAspLeuSerSerPheAsnIleThrArgIleValThrPheThrProPheTyrMetIleLysAsnLysSerLysTyrHisIleSerValAlaGluGluGlyAsnAspLysTrpLeuSerLeuAspLeuGluGlnCysIleProPheTrpProGluTyrAlaSerSerLysLeuLeuIleGlnValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnLysIleGlnPheTyrArgGluTrpIleMetThrHisSerSerSerSerAspAspAspAspAspAspAspAspAspAspGluSerAspLeuAsnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033813" }, { "@id": "http://reg.genome.network/allele/PA2499294826", "coordinates": [ { "allele": "A", "end": 7078, "referenceAllele": "C", "start": 7077 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "NM_033305.2:c.6818C>A" ], "proteinEffect": { "hgvs": "NP_150648.2:p.Ser2273Ter", "hgvsWellDefined": "NP_150648.2:p.Ser2273_Leu3174delinsIleAspThrValGlySerHisGlyAlaValLysCysLysGlyLeuLysMetAspTyrGlnValGlyValThrIleAspLeuSerSerPheAsnIleThrArgIleValThrPheThrProPheTyrMetIleLysAsnLysSerLysTyrHisIleSerValAlaGluGluGlyAsnAspLysTrpLeuSerLeuAspLeuGluGlnCysIleProPheTrpProGluTyrAlaSerSerLysLeuLeuIleGlnValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039669" }, { "coordinates": [ { "allele": "A", "end": 7170, "referenceAllele": "C", "start": 7169 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "XR_242579.2:n.7170C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116307" }, { "coordinates": [ { "allele": "A", "end": 7170, "referenceAllele": "C", "start": 7169 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "XR_242580.3:n.7170C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116308" }, { "coordinates": [ { "allele": "A", "end": 7170, "referenceAllele": "C", "start": 7169 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "XR_929740.1:n.7170C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS125869" }, { "coordinates": [ { "allele": "A", "end": 7170, "referenceAllele": "C", "start": 7169 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "XR_001746259.1:n.7170C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594606" }, { "coordinates": [ { "allele": "A", "end": 7170, "referenceAllele": "C", "start": 7169 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "XR_001746260.1:n.7170C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594607" }, { "@id": "http://reg.genome.network/allele/PA2499294826", "coordinates": [ { "allele": "A", "end": 6989, "referenceAllele": "C", "start": 6988 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "NM_033305.3:c.6818C>A" ], "proteinEffect": { "hgvs": "NP_150648.2:p.Ser2273Ter", "hgvsWellDefined": "NP_150648.2:p.Ser2273_Leu3174delinsIleAspThrValGlySerHisGlyAlaValLysCysLysGlyLeuLysMetAspTyrGlnValGlyValThrIleAspLeuSerSerPheAsnIleThrArgIleValThrPheThrProPheTyrMetIleLysAsnLysSerLysTyrHisIleSerValAlaGluGluGlyAsnAspLysTrpLeuSerLeuAspLeuGluGlnCysIleProPheTrpProGluTyrAlaSerSerLysLeuLeuIleGlnValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671547", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360280.8:c.6818C>A" }, "RefSeq": { "hgvs": "NM_033305.3:c.6818C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353422.3:p.Ser2273Ter" }, "RefSeq": { "hgvs": "NP_150648.2:p.Ser2273Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825323243", "coordinates": [ { "allele": "A", "end": 6872, "referenceAllele": "C", "start": 6871 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "NM_001018037.2:c.6701C>A" ], "proteinEffect": { "hgvs": "NP_001018047.1:p.Ser2234Ter", "hgvsWellDefined": "NP_001018047.1:p.Ser2234_Leu3135delinsIleAspThrValGlySerHisGlyAlaValLysCysLysGlyLeuLysMetAspTyrGlnValGlyValThrIleAspLeuSerSerPheAsnIleThrArgIleValThrPheThrProPheTyrMetIleLysAsnLysSerLysTyrHisIleSerValAlaGluGluGlyAsnAspLysTrpLeuSerLeuAspLeuGluGlnCysIleProPheTrpProGluTyrAlaSerSerLysLeuLeuIleGlnValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675578" }, { "@id": "http://reg.genome.network/allele/PA2825324821", "coordinates": [ { "allele": "A", "end": 6989, "referenceAllele": "C", "start": 6988 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "NM_001018038.3:c.6818C>A" ], "proteinEffect": { "hgvs": "NP_001018048.1:p.Ser2273Ter", "hgvsWellDefined": "NP_001018048.1:p.Ser2273_Ile3069delinsIleAspThrValGlySerHisGlyAlaValLysCysLysGlyLeuLysMetAspTyrGlnValGlyValThrIleAspLeuSerSerPheAsnIleThrArgIleValThrPheThrProPheTyrMetIleLysAsnLysSerLysTyrHisIleSerValAlaGluGluGlyAsnAspLysTrpLeuSerLeuAspLeuGluGlnCysIleProPheTrpProGluTyrAlaSerSerLysLeuLeuIleGlnValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnAlaSerLysSerLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711409" }, { "@id": "http://reg.genome.network/allele/PA2829812646", "coordinates": [ { "allele": "A", "end": 6989, "referenceAllele": "C", "start": 6988 } ], "gene": "http://reg.genome.network/gene/GN001908", "geneNCBI_id": 23230, "geneSymbol": "VPS13A", "hgvs": [ "NM_015186.4:c.6818C>A" ], "proteinEffect": { "hgvs": "NP_056001.1:p.Ser2273Ter", "hgvsWellDefined": "NP_056001.1:p.Ser2273_His3095delinsIleAspThrValGlySerHisGlyAlaValLysCysLysGlyLeuLysMetAspTyrGlnValGlyValThrIleAspLeuSerSerPheAsnIleThrArgIleValThrPheThrProPheTyrMetIleLysAsnLysSerLysTyrHisIleSerValAlaGluGluGlyAsnAspLysTrpLeuSerLeuAspLeuGluGlnCysIleProPheTrpProGluTyrAlaSerSerLysLeuLeuIleGlnValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnLysIleGlnPheTyrArgGluTrpIleMetThrHisSerSerSerSerAspAspAspAspAspAspAspAspAspAspGluSerAspLeuAsnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728041" } ], "type": "nucleotide" }