{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA119370", "communityStandardTitle": [ "NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23238[alleleid]", "alleleId": 23238, "preferredName": "NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8199", "RCV": [ "RCV000008682", "RCV002293410" ], "variationId": 8199 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2141807G>A?assembly=hg19", "id": "chr16:g.2141807G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2091806G>A?assembly=hg38", "id": "chr16:g.2091806G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/199476096", "rs": 199476096 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2091806-G-A?dataset=gnomad_r4", "id": "16-2091806-G-A", "variant": "16:2091806 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2091806, "referenceAllele": "G", "start": 2091805 } ], "hgvs": [ "NC_000016.10:g.2091806G>A", "CM000678.2:g.2091806G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2141807, "referenceAllele": "G", "start": 2141806 } ], "hgvs": [ "NC_000016.9:g.2141807G>A", "CM000678.1:g.2141807G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2081808, "referenceAllele": "G", "start": 2081807 } ], "hgvs": [ "NC_000016.8:g.2081808G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 51415, "referenceAllele": "C", "start": 51414 } ], "hgvs": [ "NG_008617.1:g.51415C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001129" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 11721, "referenceAllele": "C", "start": 11720 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000262304.9:c.11512C>T" ], "proteinEffect": { "hgvs": "ENSP00000262304.4:p.Gln3838Ter", "hgvsWellDefined": "ENSP00000262304.4:p.Gln3838_Thr4303delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742318", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262304.9:c.11512C>T" }, "RefSeq": { "hgvs": "NM_001009944.3:c.11512C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262304.4:p.Gln3838Ter" }, "RefSeq": { "hgvs": "NP_001009944.3:p.Gln3838Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 11721, "referenceAllele": "C", "start": 11720 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000262304.8:c.11512C>T" ], "proteinEffect": { "hgvs": "ENSP00000262304.4:p.Gln3838Ter", "hgvsWellDefined": "ENSP00000262304.4:p.Gln3838_Thr4303delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250982" }, { "coordinates": [ { "allele": "T", "end": 11718, "referenceAllele": "C", "start": 11717 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000423118.5:c.11509C>T" ], "proteinEffect": { "hgvs": "ENSP00000399501.1:p.Gln3837Ter", "hgvsWellDefined": "ENSP00000399501.1:p.Gln3837_Thr4302delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287603" }, { "coordinates": [ { "allele": "T", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000485120.1:n.501C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS324229" }, { "coordinates": [ { "allele": "T", "end": 6074, "referenceAllele": "C", "start": 6073 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000487932.5:c.6074C>T" ], "proteinEffect": { "hgvs": "ENSP00000457132.1:n.6074C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS326372" }, { "coordinates": [ { "allele": "T", "end": 173, "referenceAllele": "C", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000561668.5:c.173C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS376264" }, { "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "ENST00000564313.1:n.208C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS378005" }, { "@id": "http://reg.genome.network/allele/PA119371", "coordinates": [ { "allele": "T", "end": 11718, "referenceAllele": "C", "start": 11717 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_000296.3:c.11509C>T" ], "proteinEffect": { "hgvs": "NP_000287.3:p.Gln3837Ter", "hgvsWellDefined": "NP_000287.3:p.Gln3837_Thr4302delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006357" }, { "@id": "http://reg.genome.network/allele/PA119372", "coordinates": [ { "allele": "T", "end": 11721, "referenceAllele": "C", "start": 11720 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_001009944.2:c.11512C>T" ], "proteinEffect": { "hgvs": "NP_001009944.2:p.Gln3838Ter", "hgvsWellDefined": "NP_001009944.2:p.Gln3838_Thr4303delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008121" }, { "coordinates": [ { "allele": "T", "end": 8620, "referenceAllele": "C", "start": 8619 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_005255370.2:c.8467C>T" ], "proteinEffect": { "hgvs": "XP_005255427.1:p.Gln2823Ter", "hgvsWellDefined": "XP_005255427.1:p.Gln2823_Thr3288delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060926" }, { "coordinates": [ { "allele": "T", "end": 11605, "referenceAllele": "C", "start": 11604 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522525.1:c.11590C>T" ], "proteinEffect": { "hgvs": "XP_011520827.1:p.Gln3864Ter", "hgvsWellDefined": "XP_011520827.1:p.Gln3864_Thr4329delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089676" }, { "coordinates": [ { "allele": "T", "end": 11602, "referenceAllele": "C", "start": 11601 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522526.1:c.11587C>T" ], "proteinEffect": { "hgvs": "XP_011520828.1:p.Gln3863Ter", "hgvsWellDefined": "XP_011520828.1:p.Gln3863_Thr4328delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089677" }, { "coordinates": [ { "allele": "T", "end": 11587, "referenceAllele": "C", "start": 11586 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522527.1:c.11572C>T" ], "proteinEffect": { "hgvs": "XP_011520829.1:p.Gln3858Ter", "hgvsWellDefined": "XP_011520829.1:p.Gln3858_Thr4323delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089678" }, { "coordinates": [ { "allele": "T", "end": 11581, "referenceAllele": "C", "start": 11580 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522528.1:c.11566C>T" ], "proteinEffect": { "hgvs": "XP_011520830.1:p.Gln3856Ter", "hgvsWellDefined": "XP_011520830.1:p.Gln3856_Thr4321delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089679" }, { "coordinates": [ { "allele": "T", "end": 11578, "referenceAllele": "C", "start": 11577 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522529.1:c.11563C>T" ], "proteinEffect": { "hgvs": "XP_011520831.1:p.Gln3855Ter", "hgvsWellDefined": "XP_011520831.1:p.Gln3855_Thr4320delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089680" }, { "coordinates": [ { "allele": "T", "end": 11743, "referenceAllele": "C", "start": 11742 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522530.1:c.11536C>T" ], "proteinEffect": { "hgvs": "XP_011520832.1:p.Gln3846Ter", "hgvsWellDefined": "XP_011520832.1:p.Gln3846_Thr4311delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089681" }, { "coordinates": [ { "allele": "T", "end": 11533, "referenceAllele": "C", "start": 11532 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522531.1:c.11518C>T" ], "proteinEffect": { "hgvs": "XP_011520833.1:p.Gln3840Ter", "hgvsWellDefined": "XP_011520833.1:p.Gln3840_Thr4305delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089682" }, { "coordinates": [ { "allele": "T", "end": 11671, "referenceAllele": "C", "start": 11670 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522532.1:c.11464C>T" ], "proteinEffect": { "hgvs": "XP_011520834.1:p.Gln3822Ter", "hgvsWellDefined": "XP_011520834.1:p.Gln3822_Thr4287delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089683" }, { "coordinates": [ { "allele": "T", "end": 11398, "referenceAllele": "C", "start": 11397 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522533.1:c.11383C>T" ], "proteinEffect": { "hgvs": "XP_011520835.1:p.Gln3795Ter", "hgvsWellDefined": "XP_011520835.1:p.Gln3795_Thr4260delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089684" }, { "coordinates": [ { "allele": "T", "end": 11347, "referenceAllele": "C", "start": 11346 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522534.1:c.11326C>T" ], "proteinEffect": { "hgvs": "XP_011520836.1:p.Gln3776Ter", "hgvsWellDefined": "XP_011520836.1:p.Gln3776_Thr4241delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089685" }, { "coordinates": [ { "allele": "T", "end": 9761, "referenceAllele": "C", "start": 9760 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522535.1:c.9412C>T" ], "proteinEffect": { "hgvs": "XP_011520837.1:p.Gln3138Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089686" }, { "coordinates": [ { "allele": "T", "end": 8678, "referenceAllele": "C", "start": 8677 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522537.1:c.8590C>T" ], "proteinEffect": { "hgvs": "XP_011520839.1:p.Gln2864Ter", "hgvsWellDefined": "XP_011520839.1:p.Gln2864_Thr3329delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089688" }, { "coordinates": [ { "allele": "T", "end": 11605, "referenceAllele": "C", "start": 11604 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XR_932867.1:n.11605C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128744" }, { "coordinates": [ { "allele": "T", "end": 11352, "referenceAllele": "C", "start": 11351 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XR_932868.1:n.11352C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128745" }, { "coordinates": [ { "allele": "T", "end": 11352, "referenceAllele": "C", "start": 11351 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XR_932869.1:n.11352C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128746" }, { "coordinates": [ { "allele": "A", "end": 89, "endIntronDirection": "+", "endIntronOffset": 192, "referenceAllele": "G", "start": 89, "startIntronDirection": "+", "startIntronOffset": 191 } ], "gene": "http://reg.genome.network/gene/GN056035", "geneNCBI_id": 105371049, "geneSymbol": "PKD1-AS1", "hgvs": [ "XR_933000.1:n.89+192G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128785" }, { "coordinates": [ { "allele": "A", "end": 179, "endIntronDirection": "+", "endIntronOffset": 192, "referenceAllele": "G", "start": 179, "startIntronDirection": "+", "startIntronOffset": 191 } ], "gene": "http://reg.genome.network/gene/GN056035", "geneNCBI_id": 105371049, "geneSymbol": "PKD1-AS1", "hgvs": [ "XR_933001.1:n.179+192G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128786" }, { "coordinates": [ { "allele": "A", "end": 88, "endIntronDirection": "+", "endIntronOffset": 198, "referenceAllele": "G", "start": 88, "startIntronDirection": "+", "startIntronOffset": 197 } ], "gene": "http://reg.genome.network/gene/GN056035", "geneNCBI_id": 105371049, "geneSymbol": "PKD1-AS1", "hgvs": [ "XR_933002.1:n.88+198G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128787" }, { "coordinates": [ { "allele": "A", "end": 88, "endIntronDirection": "+", "endIntronOffset": 198, "referenceAllele": "G", "start": 88, "startIntronDirection": "+", "startIntronOffset": 197 } ], "gene": "http://reg.genome.network/gene/GN056035", "geneNCBI_id": 105371049, "geneSymbol": "PKD1-AS1", "hgvs": [ "XR_933003.1:n.88+198G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128788" }, { "coordinates": [ { "allele": "A", "end": 179, "endIntronDirection": "+", "endIntronOffset": 192, "referenceAllele": "G", "start": 179, "startIntronDirection": "+", "startIntronOffset": 191 } ], "gene": "http://reg.genome.network/gene/GN056035", "geneNCBI_id": 105371049, "geneSymbol": "PKD1-AS1", "hgvs": [ "NR_135175.1:n.179+192G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS528096" }, { "coordinates": [ { "allele": "T", "end": 9308, "referenceAllele": "C", "start": 9307 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_005255370.3:c.8467C>T" ], "proteinEffect": { "hgvs": "XP_005255427.1:p.Gln2823Ter", "hgvsWellDefined": "XP_005255427.1:p.Gln2823_Thr3288delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534274" }, { "coordinates": [ { "allele": "T", "end": 11747, "referenceAllele": "C", "start": 11746 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522528.3:c.11566C>T" ], "proteinEffect": { "hgvs": "XP_011520830.1:p.Gln3856Ter", "hgvsWellDefined": "XP_011520830.1:p.Gln3856_Thr4321delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546642" }, { "coordinates": [ { "allele": "T", "end": 11744, "referenceAllele": "C", "start": 11743 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522529.2:c.11563C>T" ], "proteinEffect": { "hgvs": "XP_011520831.1:p.Gln3855Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546643" }, { "coordinates": [ { "allele": "T", "end": 8679, "referenceAllele": "C", "start": 8678 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_011522537.2:c.8590C>T" ], "proteinEffect": { "hgvs": "XP_011520839.1:p.Gln2864Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546644" }, { "coordinates": [ { "allele": "T", "end": 11647, "referenceAllele": "C", "start": 11646 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450298.1:c.11632C>T" ], "proteinEffect": { "hgvs": "XP_024306066.1:p.Gln3878Ter", "hgvsWellDefined": "XP_024306066.1:p.Gln3878_Thr4343delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583838" }, { "coordinates": [ { "allele": "T", "end": 11575, "referenceAllele": "C", "start": 11574 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450299.1:c.11560C>T" ], "proteinEffect": { "hgvs": "XP_024306067.1:p.Gln3854Ter", "hgvsWellDefined": "XP_024306067.1:p.Gln3854_Thr4319delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583839" }, { "coordinates": [ { "allele": "T", "end": 11633, "referenceAllele": "C", "start": 11632 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450300.1:c.11422C>T" ], "proteinEffect": { "hgvs": "XP_024306068.1:p.Gln3808Ter", "hgvsWellDefined": "XP_024306068.1:p.Gln3808_Thr4273delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583840" }, { "coordinates": [ { "allele": "T", "end": 9864, "referenceAllele": "C", "start": 9863 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "XM_024450301.1:c.9508C>T" ], "proteinEffect": { "hgvs": "XP_024306069.1:p.Gln3170Ter", "hgvsWellDefined": "XP_024306069.1:p.Gln3170_Thr3635delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583841" }, { "@id": "http://reg.genome.network/allele/PA2825111726", "coordinates": [ { "allele": "T", "end": 11718, "referenceAllele": "C", "start": 11717 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_000296.4:c.11509C>T" ], "proteinEffect": { "hgvs": "NP_000287.4:p.Gln3837Ter", "hgvsWellDefined": "NP_000287.4:p.Gln3837_Thr4302delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674777" }, { "@id": "http://reg.genome.network/allele/PA915956147", "coordinates": [ { "allele": "T", "end": 11721, "referenceAllele": "C", "start": 11720 } ], "gene": "http://reg.genome.network/gene/GN009008", "geneNCBI_id": 5310, "geneSymbol": "PKD1", "hgvs": [ "NM_001009944.3:c.11512C>T" ], "proteinEffect": { "hgvs": "NP_001009944.3:p.Gln3838Ter", "hgvsWellDefined": "NP_001009944.3:p.Gln3838_Thr4303delinsLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675359", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262304.9:c.11512C>T" }, "RefSeq": { "hgvs": "NM_001009944.3:c.11512C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262304.4:p.Gln3838Ter" }, "RefSeq": { "hgvs": "NP_001009944.3:p.Gln3838Ter" } } } } ], "type": "nucleotide" }