{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3851135", "communityStandardTitle": [ "NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=481447[alleleid]", "alleleId": 481447, "preferredName": "NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/488579", "RCV": [ "RCV000578239", "RCV001249102", "RCV002470913", "RCV003420014" ], "variationId": 488579 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-51524750-G-A", "id": "6-51524750-G-A", "variant": "6:51524750 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.51524750G>A?assembly=hg19", "id": "chr6:g.51524750G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.51659952G>A?assembly=hg38", "id": "chr6:g.51659952G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/201082169", "rs": 201082169 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-51524750-G-A?dataset=gnomad_r2_1", "id": "6-51524750-G-A", "variant": "6:51524750 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-51659952-G-A?dataset=gnomad_r3", "id": "6-51659952-G-A", "variant": "6:51659952 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-51659952-G-A?dataset=gnomad_r4", "id": "6-51659952-G-A", "variant": "6:51659952 G / A" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 51659952, "referenceAllele": "G", "start": 51659951 } ], "hgvs": [ "NC_000006.12:g.51659952G>A", "CM000668.2:g.51659952G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 51524750, "referenceAllele": "G", "start": 51524749 } ], "hgvs": [ "NC_000006.11:g.51524750G>A", "CM000668.1:g.51524750G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 51632709, "referenceAllele": "G", "start": 51632708 } ], "hgvs": [ "NC_000006.10:g.51632709G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 432674, "referenceAllele": "C", "start": 432673 } ], "hgvs": [ "NG_008753.1:g.432674C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001200" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 10438, "referenceAllele": "C", "start": 10437 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "ENST00000371117.8:c.10174C>T" ], "proteinEffect": { "hgvs": "ENSP00000360158.3:p.Gln3392Ter", "hgvsWellDefined": "ENSP00000360158.3:p.Gln3392_Leu4074delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750727", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371117.8:c.10174C>T" }, "RefSeq": { "hgvs": "NM_138694.4:c.10174C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360158.3:p.Gln3392Ter" }, "RefSeq": { "hgvs": "NP_619639.3:p.Gln3392Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 10450, "referenceAllele": "C", "start": 10449 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "ENST00000371117.7:c.10174C>T" ], "proteinEffect": { "hgvs": "ENSP00000360158.3:p.Gln3392Ter", "hgvsWellDefined": "ENSP00000360158.3:p.Gln3392_Leu4074delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268422" }, { "@id": "http://reg.genome.network/allele/PA658748743", "coordinates": [ { "allele": "T", "end": 10450, "referenceAllele": "C", "start": 10449 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_138694.3:c.10174C>T" ], "proteinEffect": { "hgvs": "NP_619639.3:p.Gln3392Ter", "hgvsWellDefined": "NP_619639.3:p.Gln3392_Leu4074delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040823" }, { "coordinates": [ { "allele": "T", "end": 10274, "referenceAllele": "C", "start": 10273 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514679.1:c.10174C>T" ], "proteinEffect": { "hgvs": "XP_011512981.1:p.Gln3392Ter", "hgvsWellDefined": "XP_011512981.1:p.Gln3392_Leu4074delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081904" }, { "coordinates": [ { "allele": "T", "end": 10286, "referenceAllele": "C", "start": 10285 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514680.1:c.10174C>T" ], "proteinEffect": { "hgvs": "XP_011512982.1:p.Gln3392Ter", "hgvsWellDefined": "XP_011512982.1:p.Gln3392_Leu4074delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081905" }, { "coordinates": [ { "allele": "T", "end": 10296, "referenceAllele": "C", "start": 10295 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514681.1:c.10045C>T" ], "proteinEffect": { "hgvs": "XP_011512983.1:p.Gln3349Ter", "hgvsWellDefined": "XP_011512983.1:p.Gln3349_Leu4031delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081906" }, { "coordinates": [ { "allele": "T", "end": 10287, "referenceAllele": "C", "start": 10286 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514682.1:c.10036C>T" ], "proteinEffect": { "hgvs": "XP_011512984.1:p.Gln3346Ter", "hgvsWellDefined": "XP_011512984.1:p.Gln3346_Leu4028delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081907" }, { "coordinates": [ { "allele": "T", "end": 9783, "referenceAllele": "C", "start": 9782 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514683.1:c.9532C>T" ], "proteinEffect": { "hgvs": "XP_011512985.1:p.Gln3178Ter", "hgvsWellDefined": "XP_011512985.1:p.Gln3178_Leu3860delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081908" }, { "coordinates": [ { "allele": "T", "end": 9547, "referenceAllele": "C", "start": 9546 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514684.1:c.9463C>T" ], "proteinEffect": { "hgvs": "XP_011512986.1:p.Gln3155Ter", "hgvsWellDefined": "XP_011512986.1:p.Gln3155_Leu3837delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081909" }, { "coordinates": [ { "allele": "T", "end": 10432, "endIntronDirection": "-", "endIntronOffset": 10731, "referenceAllele": "C", "start": 10432, "startIntronDirection": "-", "startIntronOffset": 10732 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514687.1:c.10157-10732C>T" ], "proteinEffect": { "hgvs": "XP_011512989.1:n.10157-10732C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS081912" }, { "coordinates": [ { "allele": "T", "end": 4288, "referenceAllele": "C", "start": 4287 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514690.1:c.4249C>T" ], "proteinEffect": { "hgvs": "XP_011512992.1:p.Gln1417Ter", "hgvsWellDefined": "XP_011512992.1:p.Gln1417_Leu2099delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081915" }, { "coordinates": [ { "allele": "T", "end": 4607, "referenceAllele": "C", "start": 4606 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514691.1:c.4249C>T" ], "proteinEffect": { "hgvs": "XP_011512993.1:p.Gln1417Ter", "hgvsWellDefined": "XP_011512993.1:p.Gln1417_Leu2099delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081916" }, { "coordinates": [ { "allele": "A", "end": 535, "endIntronDirection": "+", "endIntronOffset": 7579, "referenceAllele": "G", "start": 535, "startIntronDirection": "+", "startIntronOffset": 7578 } ], "hgvs": [ "XR_926870.1:n.535+7579G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS123380" }, { "coordinates": [ { "allele": "A", "end": 403, "endIntronDirection": "+", "endIntronOffset": 7579, "referenceAllele": "G", "start": 403, "startIntronDirection": "+", "startIntronOffset": 7578 } ], "hgvs": [ "XR_926871.1:n.403+7579G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS123381" }, { "coordinates": [ { "allele": "A", "end": 535, "endIntronDirection": "+", "endIntronOffset": 7579, "referenceAllele": "G", "start": 535, "startIntronDirection": "+", "startIntronOffset": 7578 } ], "hgvs": [ "XR_926872.1:n.535+7579G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS123382" }, { "coordinates": [ { "allele": "T", "end": 10794, "referenceAllele": "C", "start": 10793 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514680.3:c.10174C>T" ], "proteinEffect": { "hgvs": "XP_011512982.1:p.Gln3392Ter", "hgvsWellDefined": "XP_011512982.1:p.Gln3392_Leu4074delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543423" }, { "coordinates": [ { "allele": "T", "end": 10278, "referenceAllele": "C", "start": 10277 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514682.3:c.10036C>T" ], "proteinEffect": { "hgvs": "XP_011512984.1:p.Gln3346Ter", "hgvsWellDefined": "XP_011512984.1:p.Gln3346_Leu4028delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543424" }, { "coordinates": [ { "allele": "T", "end": 9774, "referenceAllele": "C", "start": 9773 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514683.3:c.9532C>T" ], "proteinEffect": { "hgvs": "XP_011512985.1:p.Gln3178Ter", "hgvsWellDefined": "XP_011512985.1:p.Gln3178_Leu3860delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543425" }, { "coordinates": [ { "allele": "T", "end": 9560, "referenceAllele": "C", "start": 9559 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514684.3:c.9463C>T" ], "proteinEffect": { "hgvs": "XP_011512986.1:p.Gln3155Ter", "hgvsWellDefined": "XP_011512986.1:p.Gln3155_Leu3837delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543426" }, { "coordinates": [ { "allele": "T", "end": 4336, "referenceAllele": "C", "start": 4335 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514690.3:c.4249C>T" ], "proteinEffect": { "hgvs": "XP_011512992.1:p.Gln1417Ter", "hgvsWellDefined": "XP_011512992.1:p.Gln1417_Leu2099delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543429" }, { "coordinates": [ { "allele": "T", "end": 10361, "referenceAllele": "C", "start": 10360 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514691.3:c.4249C>T" ], "proteinEffect": { "hgvs": "XP_011512993.1:p.Gln1417Ter", "hgvsWellDefined": "XP_011512993.1:p.Gln1417_Leu2099delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543430" }, { "coordinates": [ { "allele": "T", "end": 10276, "referenceAllele": "C", "start": 10275 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010944.2:c.10174C>T" ], "proteinEffect": { "hgvs": "XP_016866433.1:p.Gln3392Ter", "hgvsWellDefined": "XP_016866433.1:p.Gln3392_Leu4074delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564897" }, { "coordinates": [ { "allele": "T", "end": 10341, "referenceAllele": "C", "start": 10340 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010945.2:c.10099C>T" ], "proteinEffect": { "hgvs": "XP_016866434.1:p.Gln3367Ter", "hgvsWellDefined": "XP_016866434.1:p.Gln3367_Leu4049delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564898" }, { "coordinates": [ { "allele": "T", "end": 10221, "referenceAllele": "C", "start": 10220 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010946.2:c.9979C>T" ], "proteinEffect": { "hgvs": "XP_016866435.1:p.Gln3327Ter", "hgvsWellDefined": "XP_016866435.1:p.Gln3327_Leu4009delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564899" }, { "coordinates": [ { "allele": "T", "end": 10152, "referenceAllele": "C", "start": 10151 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010947.2:c.9910C>T" ], "proteinEffect": { "hgvs": "XP_016866436.1:p.Gln3304Ter", "hgvsWellDefined": "XP_016866436.1:p.Gln3304_Leu3986delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564900" }, { "coordinates": [ { "allele": "T", "end": 10234, "referenceAllele": "C", "start": 10233 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010948.2:c.9463C>T" ], "proteinEffect": { "hgvs": "XP_016866437.1:p.Gln3155Ter", "hgvsWellDefined": "XP_016866437.1:p.Gln3155_Leu3837delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564901" }, { "coordinates": [ { "allele": "T", "end": 9413, "referenceAllele": "C", "start": 9412 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010949.2:c.8314C>T" ], "proteinEffect": { "hgvs": "XP_016866438.1:p.Gln2772Ter", "hgvsWellDefined": "XP_016866438.1:p.Gln2772_Leu3454delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564902" }, { "coordinates": [ { "allele": "T", "end": 10450, "referenceAllele": "C", "start": 10449 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XR_001743469.1:n.10450C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592682" }, { "coordinates": [ { "allele": "A", "end": 3145, "endIntronDirection": "+", "endIntronOffset": 7579, "referenceAllele": "G", "start": 3145, "startIntronDirection": "+", "startIntronOffset": 7578 } ], "hgvs": [ "XR_001744157.1:n.3145+7579G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS593061" }, { "coordinates": [ { "allele": "A", "end": 3145, "endIntronDirection": "+", "endIntronOffset": 7579, "referenceAllele": "G", "start": 3145, "startIntronDirection": "+", "startIntronOffset": 7578 } ], "hgvs": [ "XR_926870.2:n.3145+7579G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608366" }, { "coordinates": [ { "allele": "A", "end": 3013, "endIntronDirection": "+", "endIntronOffset": 7579, "referenceAllele": "G", "start": 3013, "startIntronDirection": "+", "startIntronOffset": 7578 } ], "hgvs": [ "XR_926871.2:n.3013+7579G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608367" }, { "coordinates": [ { "allele": "A", "end": 3145, "endIntronDirection": "+", "endIntronOffset": 7579, "referenceAllele": "G", "start": 3145, "startIntronDirection": "+", "startIntronOffset": 7578 } ], "hgvs": [ "XR_926872.2:n.3145+7579G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608368" }, { "@id": "http://reg.genome.network/allele/PA658748743", "coordinates": [ { "allele": "T", "end": 10438, "referenceAllele": "C", "start": 10437 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_138694.4:c.10174C>T" ], "proteinEffect": { "hgvs": "NP_619639.3:p.Gln3392Ter", "hgvsWellDefined": "NP_619639.3:p.Gln3392_Leu4074delinsLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371117.8:c.10174C>T" }, "RefSeq": { "hgvs": "NM_138694.4:c.10174C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360158.3:p.Gln3392Ter" }, "RefSeq": { "hgvs": "NP_619639.3:p.Gln3392Ter" } } } } ], "type": "nucleotide" }