{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10654768", "communityStandardTitle": [ "NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=353909[alleleid]", "alleleId": 353909, "preferredName": "NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/369676", "RCV": [ "RCV000408619" ], "variationId": 369676 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2144128C>T?assembly=hg19", "id": "chr16:g.2144128C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2094127C>T?assembly=hg38", "id": "chr16:g.2094127C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516041", "rs": 1057516041 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2094127-C-T?dataset=gnomad_r4", "id": "16-2094127-C-T", "variant": "16:2094127 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 2094127, "referenceAllele": "C", "start": 2094126 } ], "hgvs": [ "NC_000016.10:g.2094127C>T", "CM000678.2:g.2094127C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 2144128, "referenceAllele": "C", "start": 2144127 } ], "hgvs": [ "NC_000016.9:g.2144128C>T", "CM000678.1:g.2144128C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 2084129, "referenceAllele": "C", "start": 2084128 } ], "hgvs": [ "NC_000016.8:g.2084129C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 49094, "referenceAllele": "G", "start": 49093 } ], "hgvs": [ "NG_008617.1:g.49094G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001129" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 10792, "referenceAllele": "G", "start": 10791 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000262304.9:c.10583G>A" ], "proteinEffect": { "hgvs": "ENSP00000262304.4:p.Trp3528Ter", "hgvsWellDefined": "ENSP00000262304.4:p.Trp3528_Thr4303delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742318", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262304.9:c.10583G>A" }, "RefSeq": { "hgvs": "NM_001009944.3:c.10583G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262304.4:p.Trp3528Ter" }, "RefSeq": { "hgvs": "NP_001009944.3:p.Trp3528Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 10792, "referenceAllele": "G", "start": 10791 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000262304.8:c.10583G>A" ], "proteinEffect": { "hgvs": "ENSP00000262304.4:p.Trp3528Ter", "hgvsWellDefined": "ENSP00000262304.4:p.Trp3528_Thr4303delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250982" }, { "coordinates": [ { "allele": "A", "end": 10789, "referenceAllele": "G", "start": 10788 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000423118.5:c.10580G>A" ], "proteinEffect": { "hgvs": "ENSP00000399501.1:p.Trp3527Ter", "hgvsWellDefined": "ENSP00000399501.1:p.Trp3527_Thr4302delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287603" }, { "coordinates": [ { "allele": "A", "end": 20, "referenceAllele": "G", "start": 19 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000472659.1:n.20G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS314582" }, { "coordinates": [ { "allele": "A", "end": 5145, "referenceAllele": "G", "start": 5144 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000487932.5:c.5145G>A" ], "proteinEffect": { "hgvs": "ENSP00000457132.1:n.5145G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS326372" }, { "coordinates": [ { "allele": "A", "end": 10789, "referenceAllele": "G", "start": 10788 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_000296.3:c.10580G>A" ], "proteinEffect": { "hgvs": "NP_000287.3:p.Trp3527Ter", "hgvsWellDefined": "NP_000287.3:p.Trp3527_Thr4302delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006357" }, { "@id": "http://reg.genome.network/allele/PA645471292", "coordinates": [ { "allele": "A", "end": 10792, "referenceAllele": "G", "start": 10791 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_001009944.2:c.10583G>A" ], "proteinEffect": { "hgvs": "NP_001009944.2:p.Trp3528Ter", "hgvsWellDefined": "NP_001009944.2:p.Trp3528_Thr4303delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008121" }, { "coordinates": [ { "allele": "A", "end": 7691, "referenceAllele": "G", "start": 7690 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_005255370.2:c.7538G>A" ], "proteinEffect": { "hgvs": "XP_005255427.1:p.Trp2513Ter", "hgvsWellDefined": "XP_005255427.1:p.Trp2513_Thr3288delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060926" }, { "coordinates": [ { "allele": "A", "end": 10676, "referenceAllele": "G", "start": 10675 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522525.1:c.10661G>A" ], "proteinEffect": { "hgvs": "XP_011520827.1:p.Trp3554Ter", "hgvsWellDefined": "XP_011520827.1:p.Trp3554_Thr4329delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089676" }, { "coordinates": [ { "allele": "A", "end": 10673, "referenceAllele": "G", "start": 10672 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522526.1:c.10658G>A" ], "proteinEffect": { "hgvs": "XP_011520828.1:p.Trp3553Ter", "hgvsWellDefined": "XP_011520828.1:p.Trp3553_Thr4328delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089677" }, { "coordinates": [ { "allele": "A", "end": 10658, "referenceAllele": "G", "start": 10657 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522527.1:c.10643G>A" ], "proteinEffect": { "hgvs": "XP_011520829.1:p.Trp3548Ter", "hgvsWellDefined": "XP_011520829.1:p.Trp3548_Thr4323delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089678" }, { "coordinates": [ { "allele": "A", "end": 10652, "referenceAllele": "G", "start": 10651 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522528.1:c.10637G>A" ], "proteinEffect": { "hgvs": "XP_011520830.1:p.Trp3546Ter", "hgvsWellDefined": "XP_011520830.1:p.Trp3546_Thr4321delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089679" }, { "coordinates": [ { "allele": "A", "end": 10649, "referenceAllele": "G", "start": 10648 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522529.1:c.10634G>A" ], "proteinEffect": { "hgvs": "XP_011520831.1:p.Trp3545Ter", "hgvsWellDefined": "XP_011520831.1:p.Trp3545_Thr4320delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089680" }, { "coordinates": [ { "allele": "A", "end": 10814, "referenceAllele": "G", "start": 10813 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522530.1:c.10607G>A" ], "proteinEffect": { "hgvs": "XP_011520832.1:p.Trp3536Ter", "hgvsWellDefined": "XP_011520832.1:p.Trp3536_Thr4311delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089681" }, { "coordinates": [ { "allele": "A", "end": 10604, "referenceAllele": "G", "start": 10603 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522531.1:c.10589G>A" ], "proteinEffect": { "hgvs": "XP_011520833.1:p.Trp3530Ter", "hgvsWellDefined": "XP_011520833.1:p.Trp3530_Thr4305delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089682" }, { "coordinates": [ { "allele": "A", "end": 10742, "referenceAllele": "G", "start": 10741 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522532.1:c.10535G>A" ], "proteinEffect": { "hgvs": "XP_011520834.1:p.Trp3512Ter", "hgvsWellDefined": "XP_011520834.1:p.Trp3512_Thr4287delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089683" }, { "coordinates": [ { "allele": "A", "end": 10469, "referenceAllele": "G", "start": 10468 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522533.1:c.10454G>A" ], "proteinEffect": { "hgvs": "XP_011520835.1:p.Trp3485Ter", "hgvsWellDefined": "XP_011520835.1:p.Trp3485_Thr4260delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089684" }, { "coordinates": [ { "allele": "A", "end": 10418, "referenceAllele": "G", "start": 10417 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522534.1:c.10397G>A" ], "proteinEffect": { "hgvs": "XP_011520836.1:p.Trp3466Ter", "hgvsWellDefined": 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10676, "referenceAllele": "G", "start": 10675 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XR_932870.1:n.10676G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128747" }, { "coordinates": [ { "allele": "T", "end": 213, "endIntronDirection": "-", "endIntronOffset": 550, "referenceAllele": "C", "start": 213, "startIntronDirection": "-", "startIntronOffset": 551 } ], "gene": "http://reg.genome.network/gene/GN056035", "geneNCBI_id": 105371049, "geneSymbol": "PKD1-AS1", "hgvs": [ "XR_933000.1:n.214-551C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128785" }, { "coordinates": [ { "allele": "T", "end": 303, "endIntronDirection": "-", "endIntronOffset": 593, "referenceAllele": "C", "start": 303, "startIntronDirection": "-", "startIntronOffset": 594 } ], "gene": "http://reg.genome.network/gene/GN056035", "geneNCBI_id": 105371049, "geneSymbol": "PKD1-AS1", "hgvs": [ "XR_933001.1:n.304-594C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128786" }, { "coordinates": [ { "allele": "T", "end": 212, "endIntronDirection": "-", "endIntronOffset": 550, "referenceAllele": "C", "start": 212, "startIntronDirection": "-", "startIntronOffset": 551 } ], "gene": "http://reg.genome.network/gene/GN056035", "geneNCBI_id": 105371049, "geneSymbol": "PKD1-AS1", "hgvs": [ "XR_933002.1:n.213-551C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128787" }, { "coordinates": [ { "allele": "T", "end": 212, "endIntronDirection": "-", "endIntronOffset": 593, "referenceAllele": "C", "start": 212, "startIntronDirection": "-", "startIntronOffset": 594 } ], "gene": "http://reg.genome.network/gene/GN056035", "geneNCBI_id": 105371049, "geneSymbol": "PKD1-AS1", "hgvs": [ "XR_933003.1:n.213-594C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128788" }, { "coordinates": [ { "allele": "T", "end": 303, "endIntronDirection": "-", "endIntronOffset": 593, "referenceAllele": "C", "start": 303, "startIntronDirection": "-", "startIntronOffset": 594 } ], "gene": "http://reg.genome.network/gene/GN056035", "geneNCBI_id": 105371049, "geneSymbol": "PKD1-AS1", "hgvs": [ "NR_135175.1:n.304-594C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS528096" }, { "coordinates": [ { "allele": "A", "end": 8379, "referenceAllele": "G", "start": 8378 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_005255370.3:c.7538G>A" ], "proteinEffect": { "hgvs": "XP_005255427.1:p.Trp2513Ter", "hgvsWellDefined": "XP_005255427.1:p.Trp2513_Thr3288delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534274" }, { "coordinates": [ { "allele": "A", "end": 10818, "referenceAllele": "G", "start": 10817 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522528.3:c.10637G>A" ], "proteinEffect": { "hgvs": "XP_011520830.1:p.Trp3546Ter", "hgvsWellDefined": "XP_011520830.1:p.Trp3546_Thr4321delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546642" }, { "coordinates": [ { "allele": "A", "end": 10815, "referenceAllele": "G", "start": 10814 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522529.2:c.10634G>A" ], "proteinEffect": { "hgvs": "XP_011520831.1:p.Trp3545Ter", "hgvsWellDefined": "XP_011520831.1:p.Trp3545_Thr4320delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546643" }, { "coordinates": [ { "allele": "A", "end": 7750, "referenceAllele": "G", "start": 7749 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522537.2:c.7661G>A" ], "proteinEffect": { "hgvs": "XP_011520839.1:p.Trp2554Ter", "hgvsWellDefined": "XP_011520839.1:p.Trp2554_Thr3329delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546644" }, { "coordinates": [ { "allele": "A", "end": 10718, "referenceAllele": "G", "start": 10717 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450298.1:c.10703G>A" ], "proteinEffect": { "hgvs": "XP_024306066.1:p.Trp3568Ter", "hgvsWellDefined": "XP_024306066.1:p.Trp3568_Thr4343delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583838" }, { "coordinates": [ { "allele": "A", "end": 10646, "referenceAllele": "G", "start": 10645 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450299.1:c.10631G>A" ], "proteinEffect": { "hgvs": "XP_024306067.1:p.Trp3544Ter", "hgvsWellDefined": "XP_024306067.1:p.Trp3544_Thr4319delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583839" }, { "coordinates": [ { "allele": "A", "end": 10704, "referenceAllele": "G", "start": 10703 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450300.1:c.10493G>A" ], "proteinEffect": { "hgvs": "XP_024306068.1:p.Trp3498Ter", "hgvsWellDefined": "XP_024306068.1:p.Trp3498_Thr4273delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583840" }, { "coordinates": [ { "allele": "A", "end": 8935, "referenceAllele": "G", "start": 8934 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450301.1:c.8579G>A" ], "proteinEffect": { "hgvs": "XP_024306069.1:p.Trp2860Ter", "hgvsWellDefined": "XP_024306069.1:p.Trp2860_Thr3635delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583841" }, { "@id": "http://reg.genome.network/allele/PA2825111525", "coordinates": [ { "allele": "A", "end": 10789, "referenceAllele": "G", "start": 10788 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_000296.4:c.10580G>A" ], "proteinEffect": { "hgvs": "NP_000287.4:p.Trp3527Ter", "hgvsWellDefined": "NP_000287.4:p.Trp3527_Thr4302delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674777" }, { "@id": "http://reg.genome.network/allele/PA915956084", "coordinates": [ { "allele": "A", "end": 10792, "referenceAllele": "G", "start": 10791 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_001009944.3:c.10583G>A" ], "proteinEffect": { "hgvs": "NP_001009944.3:p.Trp3528Ter", "hgvsWellDefined": "NP_001009944.3:p.Trp3528_Thr4303delinsGluGlnProGlnAlaAlaArgLeuSerArgThrGlyLeuValGluGlyLeuArgLysArgLeuLeuProAlaTrpCysAlaSerLeuAlaHisGlyLeuSerLeuLeuLeuValAlaValAlaValAlaValSerGlyTrpValGlyAlaSerPheProProGlyValSerValAlaTrpLeuLeuSerSerSerAlaSerPheLeuAlaSerPheLeuGlyTrpGluProLeuLysValLeuLeuGluAlaLeuTyrPheSerLeuValAlaLysArgLeuHisProAspGluAspAspThrLeuValGluSerProAlaValThrProValSerAlaArgValProArgValArgProProHisGlyPheAlaLeuPheLeuAlaLysGluGluAlaArgLysValLysArgLeuHisGlyMetLeuArgSerLeuLeuValTyrMetLeuPheLeuLeuValThrLeuLeuAlaSerTyrGlyAspAlaSerCysHisGlyHisAlaTyrArgLeuGlnSerAlaIleLysGlnGluLeuHisSerArgAlaPheLeuAlaIleThrArgSerGluGluLeuTrpProTrpMetAlaHisValLeuLeuProTyrValHisGlyAsnGlnSerSerProGluLeuGlyProProArgLeuArgGlnValArgLeuGlnGluAlaLeuTyrProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675359", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262304.9:c.10583G>A" }, "RefSeq": { "hgvs": "NM_001009944.3:c.10583G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262304.4:p.Trp3528Ter" }, "RefSeq": { "hgvs": "NP_001009944.3:p.Trp3528Ter" } } } } ], "type": "nucleotide" }