{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16041025", "communityStandardTitle": [ "NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357439[alleleid]", "alleleId": 357439, "preferredName": "NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370246", "RCV": [ "RCV000410089" ], "variationId": 370246 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.51524215G>C?assembly=hg19", "id": "chr6:g.51524215G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.51659417G>C?assembly=hg38", "id": "chr6:g.51659417G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516345", "rs": 1057516345 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-51524215-G-C?dataset=gnomad_r2_1", "id": "6-51524215-G-C", "variant": "6:51524215 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-51659417-G-C?dataset=gnomad_r4", "id": "6-51659417-G-C", "variant": "6:51659417 G / C" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "C", "end": 51659417, "referenceAllele": "G", "start": 51659416 } ], "hgvs": [ "NC_000006.12:g.51659417G>C", "CM000668.2:g.51659417G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "C", "end": 51524215, "referenceAllele": "G", "start": 51524214 } ], "hgvs": [ "NC_000006.11:g.51524215G>C", "CM000668.1:g.51524215G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "C", "end": 51632174, "referenceAllele": "G", "start": 51632173 } ], "hgvs": [ "NC_000006.10:g.51632174G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "G", "end": 433209, "referenceAllele": "C", "start": 433208 } ], "hgvs": [ "NG_008753.1:g.433209C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001200" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 10973, "referenceAllele": "C", "start": 10972 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "ENST00000371117.8:c.10709C>G" ], "proteinEffect": { "hgvs": "ENSP00000360158.3:p.Ser3570Ter", "hgvsWellDefined": "ENSP00000360158.3:p.Ser3570_Leu4074delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750727", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371117.8:c.10709C>G" }, "RefSeq": { "hgvs": "NM_138694.4:c.10709C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360158.3:p.Ser3570Ter" }, "RefSeq": { "hgvs": "NP_619639.3:p.Ser3570Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 10985, "referenceAllele": "C", "start": 10984 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "ENST00000371117.7:c.10709C>G" ], "proteinEffect": { "hgvs": "ENSP00000360158.3:p.Ser3570Ter", "hgvsWellDefined": "ENSP00000360158.3:p.Ser3570_Leu4074delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268422" }, { "@id": "http://reg.genome.network/allele/PA645507955", "coordinates": [ { "allele": "G", "end": 10985, "referenceAllele": "C", "start": 10984 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_138694.3:c.10709C>G" ], "proteinEffect": { "hgvs": "NP_619639.3:p.Ser3570Ter", "hgvsWellDefined": "NP_619639.3:p.Ser3570_Leu4074delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040823" }, { "coordinates": [ { "allele": "G", "end": 10809, "referenceAllele": "C", "start": 10808 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514679.1:c.10709C>G" ], "proteinEffect": { "hgvs": "XP_011512981.1:p.Ser3570Ter", "hgvsWellDefined": "XP_011512981.1:p.Ser3570_Leu4074delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081904" }, { "coordinates": [ { "allele": "G", "end": 10821, "referenceAllele": "C", "start": 10820 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514680.1:c.10709C>G" ], "proteinEffect": { "hgvs": "XP_011512982.1:p.Ser3570Ter", "hgvsWellDefined": "XP_011512982.1:p.Ser3570_Leu4074delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081905" }, { "coordinates": [ { "allele": "G", "end": 10831, "referenceAllele": "C", "start": 10830 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514681.1:c.10580C>G" ], "proteinEffect": { "hgvs": "XP_011512983.1:p.Ser3527Ter", "hgvsWellDefined": "XP_011512983.1:p.Ser3527_Leu4031delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081906" }, { "coordinates": [ { "allele": "G", "end": 10822, "referenceAllele": "C", "start": 10821 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514682.1:c.10571C>G" ], "proteinEffect": { "hgvs": "XP_011512984.1:p.Ser3524Ter", "hgvsWellDefined": "XP_011512984.1:p.Ser3524_Leu4028delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081907" }, { "coordinates": [ { "allele": "G", "end": 10318, "referenceAllele": "C", "start": 10317 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514683.1:c.10067C>G" ], "proteinEffect": { "hgvs": "XP_011512985.1:p.Ser3356Ter", "hgvsWellDefined": "XP_011512985.1:p.Ser3356_Leu3860delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081908" }, { "coordinates": [ { "allele": "G", "end": 10082, "referenceAllele": "C", "start": 10081 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514684.1:c.9998C>G" ], "proteinEffect": { "hgvs": "XP_011512986.1:p.Ser3333Ter", "hgvsWellDefined": "XP_011512986.1:p.Ser3333_Leu3837delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081909" }, { "coordinates": [ { "allele": "G", "end": 10432, "endIntronDirection": "-", "endIntronOffset": 10196, "referenceAllele": "C", "start": 10432, "startIntronDirection": "-", "startIntronOffset": 10197 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514687.1:c.10157-10197C>G" ], "proteinEffect": { "hgvs": "XP_011512989.1:n.10157-10197C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS081912" }, { "coordinates": [ { "allele": "G", "end": 4823, "referenceAllele": "C", "start": 4822 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514690.1:c.4784C>G" ], "proteinEffect": { "hgvs": "XP_011512992.1:p.Ser1595Ter", "hgvsWellDefined": "XP_011512992.1:p.Ser1595_Leu2099delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081915" }, { "coordinates": [ { "allele": "G", "end": 5142, "referenceAllele": "C", "start": 5141 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514691.1:c.4784C>G" ], "proteinEffect": { "hgvs": "XP_011512993.1:p.Ser1595Ter", "hgvsWellDefined": "XP_011512993.1:p.Ser1595_Leu2099delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081916" }, { "coordinates": [ { "allele": "C", "end": 535, "endIntronDirection": "+", "endIntronOffset": 7044, "referenceAllele": "G", "start": 535, "startIntronDirection": "+", "startIntronOffset": 7043 } ], "hgvs": [ "XR_926870.1:n.535+7044G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS123380" }, { "coordinates": [ { "allele": "C", "end": 403, "endIntronDirection": "+", "endIntronOffset": 7044, "referenceAllele": "G", "start": 403, "startIntronDirection": "+", "startIntronOffset": 7043 } ], "hgvs": [ "XR_926871.1:n.403+7044G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS123381" }, { "coordinates": [ { "allele": "C", "end": 535, "endIntronDirection": "+", "endIntronOffset": 7044, "referenceAllele": "G", "start": 535, "startIntronDirection": "+", "startIntronOffset": 7043 } ], "hgvs": [ "XR_926872.1:n.535+7044G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS123382" }, { "coordinates": [ { "allele": "G", "end": 11329, "referenceAllele": "C", "start": 11328 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514680.3:c.10709C>G" ], "proteinEffect": { "hgvs": "XP_011512982.1:p.Ser3570Ter", "hgvsWellDefined": "XP_011512982.1:p.Ser3570_Leu4074delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543423" }, { "coordinates": [ { "allele": "G", "end": 10813, "referenceAllele": "C", "start": 10812 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514682.3:c.10571C>G" ], "proteinEffect": { "hgvs": "XP_011512984.1:p.Ser3524Ter", "hgvsWellDefined": "XP_011512984.1:p.Ser3524_Leu4028delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543424" }, { "coordinates": [ { "allele": "G", "end": 10309, "referenceAllele": "C", "start": 10308 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514683.3:c.10067C>G" ], "proteinEffect": { "hgvs": "XP_011512985.1:p.Ser3356Ter", "hgvsWellDefined": "XP_011512985.1:p.Ser3356_Leu3860delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543425" }, { "coordinates": [ { "allele": "G", "end": 10095, "referenceAllele": "C", "start": 10094 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514684.3:c.9998C>G" ], "proteinEffect": { "hgvs": "XP_011512986.1:p.Ser3333Ter", "hgvsWellDefined": "XP_011512986.1:p.Ser3333_Leu3837delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543426" }, { "coordinates": [ { "allele": "G", "end": 4871, "referenceAllele": "C", "start": 4870 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514690.3:c.4784C>G" ], "proteinEffect": { "hgvs": "XP_011512992.1:p.Ser1595Ter", "hgvsWellDefined": "XP_011512992.1:p.Ser1595_Leu2099delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543429" }, { "coordinates": [ { "allele": "G", "end": 10896, "referenceAllele": "C", "start": 10895 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514691.3:c.4784C>G" ], "proteinEffect": { "hgvs": "XP_011512993.1:p.Ser1595Ter", "hgvsWellDefined": "XP_011512993.1:p.Ser1595_Leu2099delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543430" }, { "coordinates": [ { "allele": "G", "end": 10811, "referenceAllele": "C", "start": 10810 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010944.2:c.10709C>G" ], "proteinEffect": { "hgvs": "XP_016866433.1:p.Ser3570Ter", "hgvsWellDefined": "XP_016866433.1:p.Ser3570_Leu4074delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564897" }, { "coordinates": [ { "allele": "G", "end": 10876, "referenceAllele": "C", "start": 10875 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010945.2:c.10634C>G" ], "proteinEffect": { "hgvs": "XP_016866434.1:p.Ser3545Ter", "hgvsWellDefined": "XP_016866434.1:p.Ser3545_Leu4049delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564898" }, { "coordinates": [ { "allele": "G", "end": 10756, "referenceAllele": "C", "start": 10755 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010946.2:c.10514C>G" ], "proteinEffect": { "hgvs": "XP_016866435.1:p.Ser3505Ter", "hgvsWellDefined": "XP_016866435.1:p.Ser3505_Leu4009delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564899" }, { "coordinates": [ { "allele": "G", "end": 10687, "referenceAllele": "C", "start": 10686 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010947.2:c.10445C>G" ], "proteinEffect": { "hgvs": "XP_016866436.1:p.Ser3482Ter", "hgvsWellDefined": "XP_016866436.1:p.Ser3482_Leu3986delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564900" }, { "coordinates": [ { "allele": "G", "end": 10769, "referenceAllele": "C", "start": 10768 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010948.2:c.9998C>G" ], "proteinEffect": { "hgvs": "XP_016866437.1:p.Ser3333Ter", "hgvsWellDefined": "XP_016866437.1:p.Ser3333_Leu3837delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564901" }, { "coordinates": [ { "allele": "G", "end": 9948, "referenceAllele": "C", "start": 9947 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010949.2:c.8849C>G" ], "proteinEffect": { "hgvs": "XP_016866438.1:p.Ser2950Ter", "hgvsWellDefined": "XP_016866438.1:p.Ser2950_Leu3454delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564902" }, { "coordinates": [ { "allele": "G", "end": 10985, "referenceAllele": "C", "start": 10984 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XR_001743469.1:n.10985C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS592682" }, { "coordinates": [ { "allele": "C", "end": 3145, "endIntronDirection": "+", "endIntronOffset": 7044, "referenceAllele": "G", "start": 3145, "startIntronDirection": "+", "startIntronOffset": 7043 } ], "hgvs": [ "XR_001744157.1:n.3145+7044G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS593061" }, { "coordinates": [ { "allele": "C", "end": 3145, "endIntronDirection": "+", "endIntronOffset": 7044, "referenceAllele": "G", "start": 3145, "startIntronDirection": "+", "startIntronOffset": 7043 } ], "hgvs": [ "XR_926870.2:n.3145+7044G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS608366" }, { "coordinates": [ { "allele": "C", "end": 3013, "endIntronDirection": "+", "endIntronOffset": 7044, "referenceAllele": "G", "start": 3013, "startIntronDirection": "+", "startIntronOffset": 7043 } ], "hgvs": [ "XR_926871.2:n.3013+7044G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS608367" }, { "coordinates": [ { "allele": "C", "end": 3145, "endIntronDirection": "+", "endIntronOffset": 7044, "referenceAllele": "G", "start": 3145, "startIntronDirection": "+", "startIntronOffset": 7043 } ], "hgvs": [ "XR_926872.2:n.3145+7044G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS608368" }, { "@id": "http://reg.genome.network/allele/PA645507955", "coordinates": [ { "allele": "G", "end": 10973, "referenceAllele": "C", "start": 10972 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_138694.4:c.10709C>G" ], "proteinEffect": { "hgvs": "NP_619639.3:p.Ser3570Ter", "hgvsWellDefined": "NP_619639.3:p.Ser3570_Leu4074delinsValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371117.8:c.10709C>G" }, "RefSeq": { "hgvs": "NM_138694.4:c.10709C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360158.3:p.Ser3570Ter" }, "RefSeq": { "hgvs": "NP_619639.3:p.Ser3570Ter" } } } } ], "type": "nucleotide" }