{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA274366", "communityStandardTitle": [ "NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=191107", "active": true, "id": "COSM191107" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3354453", "active": true, "id": "COSM3354453" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186707[alleleid]", "alleleId": 186707, "preferredName": "NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189090", "RCV": [ "RCV000169496", "RCV000724686", "RCV002272153" ], "variationId": 189090 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.51613095G>A?assembly=hg19", "id": "chr6:g.51613095G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.51748297G>A?assembly=hg38", "id": "chr6:g.51748297G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/786204688", "rs": 786204688 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-51748297-G-A?dataset=gnomad_r3", "id": "6-51748297-G-A", "variant": "6:51748297 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-51748297-G-A?dataset=gnomad_r4", "id": "6-51748297-G-A", "variant": "6:51748297 G / A" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 51748297, "referenceAllele": "G", "start": 51748296 } ], "hgvs": [ "NC_000006.12:g.51748297G>A", "CM000668.2:g.51748297G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 51613095, "referenceAllele": "G", "start": 51613094 } ], "hgvs": [ "NC_000006.11:g.51613095G>A", "CM000668.1:g.51613095G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 51721054, "referenceAllele": "G", "start": 51721053 } ], "hgvs": [ "NC_000006.10:g.51721054G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 344329, "referenceAllele": "C", "start": 344328 } ], "hgvs": [ "NG_008753.1:g.344329C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001200" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 9583, "referenceAllele": "C", "start": 9582 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "ENST00000371117.8:c.9319C>T" ], "proteinEffect": { "hgvs": "ENSP00000360158.3:p.Arg3107Ter", "hgvsWellDefined": "ENSP00000360158.3:p.Arg3107_Leu4074delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750727", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371117.8:c.9319C>T" }, "RefSeq": { "hgvs": "NM_138694.4:c.9319C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360158.3:p.Arg3107Ter" }, "RefSeq": { "hgvs": "NP_619639.3:p.Arg3107Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 9580, "referenceAllele": "C", "start": 9579 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "ENST00000340994.4:c.9319C>T" ], "proteinEffect": { "hgvs": "ENSP00000341097.4:p.Arg3107Ter", "hgvsWellDefined": "ENSP00000341097.4:p.Arg3107_Glu3396delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaValThrThrGluGlnAlaLeuLysIleSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261231" }, { "coordinates": [ { "allele": "T", "end": 9595, "referenceAllele": "C", "start": 9594 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "ENST00000371117.7:c.9319C>T" ], "proteinEffect": { "hgvs": "ENSP00000360158.3:p.Arg3107Ter", "hgvsWellDefined": "ENSP00000360158.3:p.Arg3107_Leu4074delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268422" }, { "@id": "http://reg.genome.network/allele/PA274367", "coordinates": [ { "allele": "T", "end": 9595, "referenceAllele": "C", "start": 9594 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_138694.3:c.9319C>T" ], "proteinEffect": { "hgvs": "NP_619639.3:p.Arg3107Ter", "hgvsWellDefined": "NP_619639.3:p.Arg3107_Leu4074delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040823" }, { "@id": "http://reg.genome.network/allele/PA916060025", "coordinates": [ { "allele": "T", "end": 9595, "referenceAllele": "C", "start": 9594 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_170724.2:c.9319C>T" ], "proteinEffect": { "hgvs": "NP_733842.2:p.Arg3107Ter", "hgvsWellDefined": "NP_733842.2:p.Arg3107_Glu3396delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaValThrThrGluGlnAlaLeuLysIleSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042573" }, { "coordinates": [ { "allele": "T", "end": 9419, "referenceAllele": "C", "start": 9418 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514679.1:c.9319C>T" ], "proteinEffect": { "hgvs": "XP_011512981.1:p.Arg3107Ter", "hgvsWellDefined": "XP_011512981.1:p.Arg3107_Leu4074delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081904" }, { "coordinates": [ { "allele": "T", "end": 9431, "referenceAllele": "C", "start": 9430 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514680.1:c.9319C>T" ], "proteinEffect": { "hgvs": "XP_011512982.1:p.Arg3107Ter", "hgvsWellDefined": "XP_011512982.1:p.Arg3107_Leu4074delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081905" }, { "coordinates": [ { "allele": "T", "end": 9441, "referenceAllele": "C", "start": 9440 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514681.1:c.9190C>T" ], "proteinEffect": { "hgvs": "XP_011512983.1:p.Arg3064Ter", "hgvsWellDefined": "XP_011512983.1:p.Arg3064_Leu4031delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081906" }, { "coordinates": [ { "allele": "T", "end": 9432, "referenceAllele": "C", "start": 9431 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514682.1:c.9181C>T" ], "proteinEffect": { "hgvs": "XP_011512984.1:p.Arg3061Ter", "hgvsWellDefined": "XP_011512984.1:p.Arg3061_Leu4028delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081907" }, { "coordinates": [ { "allele": "T", "end": 8928, "referenceAllele": "C", "start": 8927 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514683.1:c.8677C>T" ], "proteinEffect": { "hgvs": "XP_011512985.1:p.Arg2893Ter", "hgvsWellDefined": "XP_011512985.1:p.Arg2893_Leu3860delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081908" }, { "coordinates": [ { "allele": "T", "end": 8692, "referenceAllele": "C", "start": 8691 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514684.1:c.8608C>T" ], "proteinEffect": { "hgvs": "XP_011512986.1:p.Arg2870Ter", "hgvsWellDefined": "XP_011512986.1:p.Arg2870_Leu3837delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081909" }, { "coordinates": [ { "allele": "T", "end": 9595, "referenceAllele": "C", "start": 9594 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514685.1:c.9319C>T" ], "proteinEffect": { "hgvs": "XP_011512987.1:p.Arg3107Ter", "hgvsWellDefined": "XP_011512987.1:p.Arg3107_Asn3416delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyProArgLeuLysTyrHisGlnMetLeuMetThrSerAsnLeuTyrProGlnProArgLeuAspProGluIleTrpSerSerIleAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081910" }, { "coordinates": [ { "allele": "T", "end": 9595, "referenceAllele": "C", "start": 9594 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514686.1:c.9319C>T" ], "proteinEffect": { "hgvs": "XP_011512988.1:p.Arg3107Ter", "hgvsWellDefined": "XP_011512988.1:p.Arg3107_Pro3402delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyLeuLeuGlyThrLysGluGluPheProTyrValLeuTyrProLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081911" }, { "coordinates": [ { "allele": "T", "end": 9595, "referenceAllele": "C", "start": 9594 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514687.1:c.9319C>T" ], "proteinEffect": { "hgvs": "XP_011512989.1:p.Arg3107Ter", "hgvsWellDefined": "XP_011512989.1:p.Arg3107_Thr3395delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGluIleGlnAlaValLeuLysLeuGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081912" }, { "coordinates": [ { "allele": "T", "end": 9570, "referenceAllele": "C", "start": 9569 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514688.1:c.9319C>T" ], "proteinEffect": { "hgvs": "XP_011512990.1:p.Arg3107Ter", "hgvsWellDefined": "XP_011512990.1:p.Arg3107_Leu3278delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081913" }, { "coordinates": [ { "allele": "T", "end": 3433, "referenceAllele": "C", "start": 3432 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514690.1:c.3394C>T" ], "proteinEffect": { "hgvs": "XP_011512992.1:p.Arg1132Ter", "hgvsWellDefined": "XP_011512992.1:p.Arg1132_Leu2099delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081915" }, { "coordinates": [ { "allele": "T", "end": 3752, "referenceAllele": "C", "start": 3751 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514691.1:c.3394C>T" ], "proteinEffect": { "hgvs": "XP_011512993.1:p.Arg1132Ter", "hgvsWellDefined": "XP_011512993.1:p.Arg1132_Leu2099delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081916" }, { "coordinates": [ { "allele": "T", "end": 9939, "referenceAllele": "C", "start": 9938 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514680.3:c.9319C>T" ], "proteinEffect": { "hgvs": "XP_011512982.1:p.Arg3107Ter", "hgvsWellDefined": "XP_011512982.1:p.Arg3107_Leu4074delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543423" }, { "coordinates": [ { "allele": "T", "end": 9423, "referenceAllele": "C", "start": 9422 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514682.3:c.9181C>T" ], "proteinEffect": { "hgvs": "XP_011512984.1:p.Arg3061Ter", "hgvsWellDefined": "XP_011512984.1:p.Arg3061_Leu4028delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543424" }, { "coordinates": [ { "allele": "T", "end": 8919, "referenceAllele": "C", "start": 8918 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514683.3:c.8677C>T" ], "proteinEffect": { "hgvs": "XP_011512985.1:p.Arg2893Ter", "hgvsWellDefined": "XP_011512985.1:p.Arg2893_Leu3860delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543425" }, { "coordinates": [ { "allele": "T", "end": 8705, "referenceAllele": "C", "start": 8704 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514684.3:c.8608C>T" ], "proteinEffect": { "hgvs": "XP_011512986.1:p.Arg2870Ter", "hgvsWellDefined": "XP_011512986.1:p.Arg2870_Leu3837delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543426" }, { "coordinates": [ { "allele": "T", "end": 9595, "referenceAllele": "C", "start": 9594 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514686.2:c.9319C>T" ], "proteinEffect": { "hgvs": "XP_011512988.1:p.Arg3107Ter", "hgvsWellDefined": "XP_011512988.1:p.Arg3107_Pro3402delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyLeuLeuGlyThrLysGluGluPheProTyrValLeuTyrProLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543427" }, { "coordinates": [ { "allele": "T", "end": 9561, "referenceAllele": "C", "start": 9560 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514688.2:c.9319C>T" ], "proteinEffect": { "hgvs": "XP_011512990.1:p.Arg3107Ter", "hgvsWellDefined": "XP_011512990.1:p.Arg3107_Leu3278delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543428" }, { "coordinates": [ { "allele": "T", "end": 3481, "referenceAllele": "C", "start": 3480 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514690.3:c.3394C>T" ], "proteinEffect": { "hgvs": "XP_011512992.1:p.Arg1132Ter", "hgvsWellDefined": "XP_011512992.1:p.Arg1132_Leu2099delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543429" }, { "coordinates": [ { "allele": "T", "end": 9506, "referenceAllele": "C", "start": 9505 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514691.3:c.3394C>T" ], "proteinEffect": { "hgvs": "XP_011512993.1:p.Arg1132Ter", "hgvsWellDefined": "XP_011512993.1:p.Arg1132_Leu2099delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543430" }, { "coordinates": [ { "allele": "T", "end": 9421, "referenceAllele": "C", "start": 9420 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010944.2:c.9319C>T" ], "proteinEffect": { "hgvs": "XP_016866433.1:p.Arg3107Ter", "hgvsWellDefined": "XP_016866433.1:p.Arg3107_Leu4074delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564897" }, { "coordinates": [ { "allele": "T", "end": 9486, "referenceAllele": "C", "start": 9485 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010945.2:c.9244C>T" ], "proteinEffect": { "hgvs": "XP_016866434.1:p.Arg3082Ter", "hgvsWellDefined": "XP_016866434.1:p.Arg3082_Leu4049delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564898" }, { "coordinates": [ { "allele": "T", "end": 9366, "referenceAllele": "C", "start": 9365 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010946.2:c.9124C>T" ], "proteinEffect": { "hgvs": "XP_016866435.1:p.Arg3042Ter", "hgvsWellDefined": "XP_016866435.1:p.Arg3042_Leu4009delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564899" }, { "coordinates": [ { "allele": "T", "end": 9297, "referenceAllele": "C", "start": 9296 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010947.2:c.9055C>T" ], "proteinEffect": { "hgvs": "XP_016866436.1:p.Arg3019Ter", "hgvsWellDefined": "XP_016866436.1:p.Arg3019_Leu3986delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564900" }, { "coordinates": [ { "allele": "T", "end": 9379, "referenceAllele": "C", "start": 9378 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010948.2:c.8608C>T" ], "proteinEffect": { "hgvs": "XP_016866437.1:p.Arg2870Ter", "hgvsWellDefined": "XP_016866437.1:p.Arg2870_Leu3837delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564901" }, { "coordinates": [ { "allele": "T", "end": 8558, "referenceAllele": "C", "start": 8557 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010949.2:c.7459C>T" ], "proteinEffect": { "hgvs": "XP_016866438.1:p.Arg2487Ter", "hgvsWellDefined": "XP_016866438.1:p.Arg2487_Leu3454delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564902" }, { "coordinates": [ { "allele": "T", "end": 9595, "referenceAllele": "C", "start": 9594 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010950.1:c.9319C>T" ], "proteinEffect": { "hgvs": "XP_016866439.1:p.Arg3107Ter", "hgvsWellDefined": "XP_016866439.1:p.Arg3107_Ser3403delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaValGlnAspLysAsnLeuLeuSerSerSerValAsnGlnArgLysGlnCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564903" }, { "coordinates": [ { "allele": "T", "end": 9595, "referenceAllele": "C", "start": 9594 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XR_001743469.1:n.9595C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592682" }, { "@id": "http://reg.genome.network/allele/PA274367", "coordinates": [ { "allele": "T", "end": 9583, "referenceAllele": "C", "start": 9582 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_138694.4:c.9319C>T" ], "proteinEffect": { "hgvs": "NP_619639.3:p.Arg3107Ter", "hgvsWellDefined": "NP_619639.3:p.Arg3107_Leu4074delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371117.8:c.9319C>T" }, "RefSeq": { "hgvs": "NM_138694.4:c.9319C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360158.3:p.Arg3107Ter" }, "RefSeq": { "hgvs": "NP_619639.3:p.Arg3107Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916060025", "coordinates": [ { "allele": "T", "end": 9583, "referenceAllele": "C", "start": 9582 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_170724.3:c.9319C>T" ], "proteinEffect": { "hgvs": "NP_733842.2:p.Arg3107Ter", "hgvsWellDefined": "NP_733842.2:p.Arg3107_Glu3396delinsGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaValThrThrGluGlnAlaLeuLysIleSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700451" } ], "type": "nucleotide" }