{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16620107", "communityStandardTitle": [ "NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=409502[alleleid]", "alleleId": 409502, "preferredName": "NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419960", "RCV": [ "RCV000486461", "RCV002489152" ], "variationId": 419960 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2147228G>A?assembly=hg19", "id": "chr16:g.2147228G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2097227G>A?assembly=hg38", "id": "chr16:g.2097227G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794206", "rs": 1064794206 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2097227, "referenceAllele": "G", "start": 2097226 } ], "hgvs": [ "NC_000016.10:g.2097227G>A", "CM000678.2:g.2097227G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2147228, "referenceAllele": "G", "start": 2147227 } ], "hgvs": [ "NC_000016.9:g.2147228G>A", "CM000678.1:g.2147228G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2087229, "referenceAllele": "G", "start": 2087228 } ], "hgvs": [ "NC_000016.8:g.2087229G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 45994, "referenceAllele": "C", "start": 45993 } ], "hgvs": [ "NG_008617.1:g.45994C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001129" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 10629, "referenceAllele": "C", "start": 10628 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000262304.9:c.10420C>T" ], "proteinEffect": { "hgvs": "ENSP00000262304.4:p.Gln3474Ter", "hgvsWellDefined": "ENSP00000262304.4:p.Gln3475_Thr4303delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742318", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262304.9:c.10420C>T" }, "RefSeq": { "hgvs": "NM_001009944.3:c.10420C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262304.4:p.Gln3474Ter" }, "RefSeq": { "hgvs": "NP_001009944.3:p.Gln3474Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 10629, "referenceAllele": "C", "start": 10628 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000262304.8:c.10420C>T" ], "proteinEffect": { "hgvs": "ENSP00000262304.4:p.Gln3474Ter", "hgvsWellDefined": "ENSP00000262304.4:p.Gln3475_Thr4303delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250982" }, { "coordinates": [ { "allele": "T", "end": 10626, "referenceAllele": "C", "start": 10625 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000423118.5:c.10417C>T" ], "proteinEffect": { "hgvs": "ENSP00000399501.1:p.Gln3473Ter", "hgvsWellDefined": "ENSP00000399501.1:p.Gln3474_Thr4302delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287603" }, { "coordinates": [ { "allele": "T", "end": 4982, "referenceAllele": "C", "start": 4981 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000487932.5:c.4982C>T" ], "proteinEffect": { "hgvs": "ENSP00000457132.1:n.4982C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS326372" }, { "coordinates": [ { "allele": "T", "end": 10626, "referenceAllele": "C", "start": 10625 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_000296.3:c.10417C>T" ], "proteinEffect": { "hgvs": "NP_000287.3:p.Gln3473Ter", "hgvsWellDefined": "NP_000287.3:p.Gln3474_Thr4302delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006357" }, { "@id": "http://reg.genome.network/allele/PA645471262", "coordinates": [ { "allele": "T", "end": 10629, "referenceAllele": "C", "start": 10628 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_001009944.2:c.10420C>T" ], "proteinEffect": { "hgvs": "NP_001009944.2:p.Gln3474Ter", "hgvsWellDefined": "NP_001009944.2:p.Gln3475_Thr4303delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008121" }, { "coordinates": [ { "allele": "T", "end": 7528, "referenceAllele": "C", "start": 7527 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_005255370.2:c.7375C>T" ], "proteinEffect": { "hgvs": "XP_005255427.1:p.Gln2459Ter", "hgvsWellDefined": "XP_005255427.1:p.Gln2460_Thr3288delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060926" }, { "coordinates": [ { "allele": "T", "end": 10513, "referenceAllele": "C", "start": 10512 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522525.1:c.10498C>T" ], "proteinEffect": { "hgvs": "XP_011520827.1:p.Gln3500Ter", "hgvsWellDefined": "XP_011520827.1:p.Gln3501_Thr4329delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089676" }, { "coordinates": [ { "allele": "T", "end": 10510, "referenceAllele": "C", "start": 10509 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522526.1:c.10495C>T" ], "proteinEffect": { "hgvs": "XP_011520828.1:p.Gln3499Ter", "hgvsWellDefined": "XP_011520828.1:p.Gln3500_Thr4328delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089677" }, { "coordinates": [ { "allele": "T", "end": 10495, "referenceAllele": "C", "start": 10494 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522527.1:c.10480C>T" ], "proteinEffect": { "hgvs": "XP_011520829.1:p.Gln3494Ter", "hgvsWellDefined": "XP_011520829.1:p.Gln3495_Thr4323delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089678" }, { "coordinates": [ { "allele": "T", "end": 10489, "referenceAllele": "C", "start": 10488 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522528.1:c.10474C>T" ], "proteinEffect": { "hgvs": "XP_011520830.1:p.Gln3492Ter", "hgvsWellDefined": "XP_011520830.1:p.Gln3493_Thr4321delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089679" }, { "coordinates": [ { "allele": "T", "end": 10486, "referenceAllele": "C", "start": 10485 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522529.1:c.10471C>T" ], "proteinEffect": { "hgvs": "XP_011520831.1:p.Gln3491Ter", "hgvsWellDefined": "XP_011520831.1:p.Gln3492_Thr4320delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089680" }, { "coordinates": [ { "allele": "T", "end": 10651, "referenceAllele": "C", "start": 10650 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522530.1:c.10444C>T" ], "proteinEffect": { "hgvs": "XP_011520832.1:p.Gln3482Ter", "hgvsWellDefined": "XP_011520832.1:p.Gln3483_Thr4311delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089681" }, { "coordinates": [ { "allele": "T", "end": 10441, "referenceAllele": "C", "start": 10440 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522531.1:c.10426C>T" ], "proteinEffect": { "hgvs": "XP_011520833.1:p.Gln3476Ter", "hgvsWellDefined": "XP_011520833.1:p.Gln3477_Thr4305delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089682" }, { "coordinates": [ { "allele": "T", "end": 10579, "referenceAllele": "C", "start": 10578 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522532.1:c.10372C>T" ], "proteinEffect": { "hgvs": "XP_011520834.1:p.Gln3458Ter", "hgvsWellDefined": "XP_011520834.1:p.Gln3459_Thr4287delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089683" }, { "coordinates": [ { "allele": "T", "end": 10306, "referenceAllele": "C", "start": 10305 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522533.1:c.10291C>T" ], "proteinEffect": { "hgvs": "XP_011520835.1:p.Gln3431Ter", "hgvsWellDefined": "XP_011520835.1:p.Gln3432_Thr4260delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089684" }, { "coordinates": [ { "allele": "T", "end": 10255, "referenceAllele": "C", "start": 10254 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522534.1:c.10234C>T" ], "proteinEffect": { "hgvs": "XP_011520836.1:p.Gln3412Ter", "hgvsWellDefined": "XP_011520836.1:p.Gln3413_Thr4241delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089685" }, { "coordinates": [ { "allele": "T", "end": 8669, "referenceAllele": "C", "start": 8668 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522535.1:c.8320C>T" ], "proteinEffect": { "hgvs": "XP_011520837.1:p.Gln2774Ter", "hgvsWellDefined": "XP_011520837.1:p.Gln2775_Thr3603delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089686" }, { "coordinates": [ { "allele": "T", "end": 7586, "referenceAllele": "C", "start": 7585 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522537.1:c.7498C>T" ], "proteinEffect": { "hgvs": "XP_011520839.1:p.Gln2500Ter", "hgvsWellDefined": "XP_011520839.1:p.Gln2501_Thr3329delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089688" }, { "coordinates": [ { "allele": "T", "end": 10513, "referenceAllele": "C", "start": 10512 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XR_932867.1:n.10513C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128744" }, { "coordinates": [ { "allele": "T", "end": 10513, "referenceAllele": "C", "start": 10512 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XR_932868.1:n.10513C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128745" }, { "coordinates": [ { "allele": "T", "end": 10513, "referenceAllele": "C", "start": 10512 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XR_932869.1:n.10513C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128746" }, { "coordinates": [ { "allele": "T", "end": 10513, "referenceAllele": "C", "start": 10512 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XR_932870.1:n.10513C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128747" }, { "coordinates": [ { "allele": "T", "end": 8216, "referenceAllele": "C", "start": 8215 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_005255370.3:c.7375C>T" ], "proteinEffect": { "hgvs": "XP_005255427.1:p.Gln2459Ter", "hgvsWellDefined": "XP_005255427.1:p.Gln2460_Thr3288delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534274" }, { "coordinates": [ { "allele": "T", "end": 10655, "referenceAllele": "C", "start": 10654 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522528.3:c.10474C>T" ], "proteinEffect": { "hgvs": "XP_011520830.1:p.Gln3492Ter", "hgvsWellDefined": "XP_011520830.1:p.Gln3493_Thr4321delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546642" }, { "coordinates": [ { "allele": "T", "end": 10652, "referenceAllele": "C", "start": 10651 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522529.2:c.10471C>T" ], "proteinEffect": { "hgvs": "XP_011520831.1:p.Gln3491Ter", "hgvsWellDefined": "XP_011520831.1:p.Gln3492_Thr4320delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546643" }, { "coordinates": [ { "allele": "T", "end": 7587, "referenceAllele": "C", "start": 7586 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522537.2:c.7498C>T" ], "proteinEffect": { "hgvs": "XP_011520839.1:p.Gln2500Ter", "hgvsWellDefined": "XP_011520839.1:p.Gln2501_Thr3329delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546644" }, { "coordinates": [ { "allele": "T", "end": 10555, "referenceAllele": "C", "start": 10554 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450298.1:c.10540C>T" ], "proteinEffect": { "hgvs": "XP_024306066.1:p.Gln3514Ter", "hgvsWellDefined": "XP_024306066.1:p.Gln3515_Thr4343delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583838" }, { "coordinates": [ { "allele": "T", "end": 10483, "referenceAllele": "C", "start": 10482 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450299.1:c.10468C>T" ], "proteinEffect": { "hgvs": "XP_024306067.1:p.Gln3490Ter", "hgvsWellDefined": "XP_024306067.1:p.Gln3491_Thr4319delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583839" }, { "coordinates": [ { "allele": "T", "end": 10541, "referenceAllele": "C", "start": 10540 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450300.1:c.10330C>T" ], "proteinEffect": { "hgvs": "XP_024306068.1:p.Gln3444Ter", "hgvsWellDefined": "XP_024306068.1:p.Gln3445_Thr4273delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583840" }, { "coordinates": [ { "allele": "T", "end": 8772, "referenceAllele": "C", "start": 8771 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450301.1:c.8416C>T" ], "proteinEffect": { "hgvs": "XP_024306069.1:p.Gln2806Ter", "hgvsWellDefined": "XP_024306069.1:p.Gln2807_Thr3635delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583841" }, { "@id": "http://reg.genome.network/allele/PA2825111499", "coordinates": [ { "allele": "T", "end": 10626, "referenceAllele": "C", "start": 10625 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_000296.4:c.10417C>T" ], "proteinEffect": { "hgvs": "NP_000287.4:p.Gln3473Ter", "hgvsWellDefined": "NP_000287.4:p.Gln3474_Thr4302delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674777" }, { "@id": "http://reg.genome.network/allele/PA915956076", "coordinates": [ { "allele": "T", "end": 10629, "referenceAllele": "C", "start": 10628 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_001009944.3:c.10420C>T" ], "proteinEffect": { "hgvs": "NP_001009944.3:p.Gln3474Ter", "hgvsWellDefined": "NP_001009944.3:p.Gln3475_Thr4303delinsValLeuAlaGluGlyValSerSerProAlaProThrGlnAspThrHisMetGluThrAspLeuLeuSerSerLeuSerSerThrProGlyGluLysThrGluThrLeuAlaLeuGlnArgLeuGlyGluLeuGlyProProSerProGlyLeuAsnTrpGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675359", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262304.9:c.10420C>T" }, "RefSeq": { "hgvs": "NM_001009944.3:c.10420C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262304.4:p.Gln3474Ter" }, "RefSeq": { "hgvs": "NP_001009944.3:p.Gln3474Ter" } } } } ], "type": "nucleotide" }