{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16041032", "communityStandardTitle": [ "NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357449[alleleid]", "alleleId": 357449, "preferredName": "NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370381", "RCV": [ "RCV000411250" ], "variationId": 370381 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.51612731G>T?assembly=hg19", "id": "chr6:g.51612731G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.51747933G>T?assembly=hg38", "id": "chr6:g.51747933G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516445", "rs": 1057516445 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-51747933-G-T?dataset=gnomad_r4", "id": "6-51747933-G-T", "variant": "6:51747933 G / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 51747933, "referenceAllele": "G", "start": 51747932 } ], "hgvs": [ "NC_000006.12:g.51747933G>T", "CM000668.2:g.51747933G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 51612731, "referenceAllele": "G", "start": 51612730 } ], "hgvs": [ "NC_000006.11:g.51612731G>T", "CM000668.1:g.51612731G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 51720690, "referenceAllele": "G", "start": 51720689 } ], "hgvs": [ "NC_000006.10:g.51720690G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "A", "end": 344693, "referenceAllele": "C", "start": 344692 } ], "hgvs": [ "NG_008753.1:g.344693C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001200" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 9947, "referenceAllele": "C", "start": 9946 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "ENST00000371117.8:c.9683C>A" ], "proteinEffect": { "hgvs": "ENSP00000360158.3:p.Ser3228Ter", "hgvsWellDefined": "ENSP00000360158.3:p.Ser3228_Leu4074delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750727", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371117.8:c.9683C>A" }, "RefSeq": { "hgvs": "NM_138694.4:c.9683C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360158.3:p.Ser3228Ter" }, "RefSeq": { "hgvs": "NP_619639.3:p.Ser3228Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 9944, "referenceAllele": "C", "start": 9943 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "ENST00000340994.4:c.9683C>A" ], "proteinEffect": { "hgvs": "ENSP00000341097.4:p.Ser3228Ter", "hgvsWellDefined": "ENSP00000341097.4:p.Ser3228_Glu3396delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaValThrThrGluGlnAlaLeuLysIleSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261231" }, { "coordinates": [ { "allele": "A", "end": 9959, "referenceAllele": "C", "start": 9958 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "ENST00000371117.7:c.9683C>A" ], "proteinEffect": { "hgvs": "ENSP00000360158.3:p.Ser3228Ter", "hgvsWellDefined": "ENSP00000360158.3:p.Ser3228_Leu4074delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268422" }, { "@id": "http://reg.genome.network/allele/PA645507931", "coordinates": [ { "allele": "A", "end": 9959, "referenceAllele": "C", "start": 9958 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_138694.3:c.9683C>A" ], "proteinEffect": { "hgvs": "NP_619639.3:p.Ser3228Ter", "hgvsWellDefined": "NP_619639.3:p.Ser3228_Leu4074delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040823" }, { "@id": "http://reg.genome.network/allele/PA916060066", "coordinates": [ { "allele": "A", "end": 9959, "referenceAllele": "C", "start": 9958 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_170724.2:c.9683C>A" ], "proteinEffect": { "hgvs": "NP_733842.2:p.Ser3228Ter", "hgvsWellDefined": "NP_733842.2:p.Ser3228_Glu3396delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaValThrThrGluGlnAlaLeuLysIleSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042573" }, { "coordinates": [ { "allele": "A", "end": 9783, "referenceAllele": "C", "start": 9782 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514679.1:c.9683C>A" ], "proteinEffect": { "hgvs": "XP_011512981.1:p.Ser3228Ter", "hgvsWellDefined": "XP_011512981.1:p.Ser3228_Leu4074delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081904" }, { "coordinates": [ { "allele": "A", "end": 9795, "referenceAllele": "C", "start": 9794 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514680.1:c.9683C>A" ], "proteinEffect": { "hgvs": "XP_011512982.1:p.Ser3228Ter", "hgvsWellDefined": "XP_011512982.1:p.Ser3228_Leu4074delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081905" }, { "coordinates": [ { "allele": "A", "end": 9805, "referenceAllele": "C", "start": 9804 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514681.1:c.9554C>A" ], "proteinEffect": { "hgvs": "XP_011512983.1:p.Ser3185Ter", "hgvsWellDefined": "XP_011512983.1:p.Ser3185_Leu4031delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081906" }, { "coordinates": [ { "allele": "A", "end": 9796, "referenceAllele": "C", "start": 9795 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514682.1:c.9545C>A" ], "proteinEffect": { "hgvs": "XP_011512984.1:p.Ser3182Ter", "hgvsWellDefined": "XP_011512984.1:p.Ser3182_Leu4028delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081907" }, { "coordinates": [ { "allele": "A", "end": 9292, "referenceAllele": "C", "start": 9291 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514683.1:c.9041C>A" ], "proteinEffect": { "hgvs": "XP_011512985.1:p.Ser3014Ter", "hgvsWellDefined": "XP_011512985.1:p.Ser3014_Leu3860delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081908" }, { "coordinates": [ { "allele": "A", "end": 9056, "referenceAllele": "C", "start": 9055 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514684.1:c.8972C>A" ], "proteinEffect": { "hgvs": "XP_011512986.1:p.Ser2991Ter", "hgvsWellDefined": "XP_011512986.1:p.Ser2991_Leu3837delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081909" }, { "coordinates": [ { "allele": "A", "end": 9959, "referenceAllele": "C", "start": 9958 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514685.1:c.9683C>A" ], "proteinEffect": { "hgvs": "XP_011512987.1:p.Ser3228Ter", "hgvsWellDefined": "XP_011512987.1:p.Ser3228_Asn3416delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyProArgLeuLysTyrHisGlnMetLeuMetThrSerAsnLeuTyrProGlnProArgLeuAspProGluIleTrpSerSerIleAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081910" }, { "coordinates": [ { "allele": "A", "end": 9959, "referenceAllele": "C", "start": 9958 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514686.1:c.9683C>A" ], "proteinEffect": { "hgvs": "XP_011512988.1:p.Ser3228Ter", "hgvsWellDefined": "XP_011512988.1:p.Ser3228_Pro3402delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyLeuLeuGlyThrLysGluGluPheProTyrValLeuTyrProLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081911" }, { "coordinates": [ { "allele": "A", "end": 9959, "referenceAllele": "C", "start": 9958 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514687.1:c.9683C>A" ], "proteinEffect": { "hgvs": "XP_011512989.1:p.Ser3228Ter", "hgvsWellDefined": "XP_011512989.1:p.Ser3228_Thr3395delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGluIleGlnAlaValLeuLysLeuGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081912" }, { "coordinates": [ { "allele": "A", "end": 9934, "referenceAllele": "C", "start": 9933 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514688.1:c.9683C>A" ], "proteinEffect": { "hgvs": "XP_011512990.1:p.Ser3228Ter", "hgvsWellDefined": "XP_011512990.1:p.Ser3228_Leu3278delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081913" }, { "coordinates": [ { "allele": "A", "end": 3797, "referenceAllele": "C", "start": 3796 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514690.1:c.3758C>A" ], "proteinEffect": { "hgvs": "XP_011512992.1:p.Ser1253Ter", "hgvsWellDefined": "XP_011512992.1:p.Ser1253_Leu2099delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081915" }, { "coordinates": [ { "allele": "A", "end": 4116, "referenceAllele": "C", "start": 4115 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514691.1:c.3758C>A" ], "proteinEffect": { "hgvs": "XP_011512993.1:p.Ser1253Ter", "hgvsWellDefined": "XP_011512993.1:p.Ser1253_Leu2099delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081916" }, { "coordinates": [ { "allele": "A", "end": 10303, "referenceAllele": "C", "start": 10302 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514680.3:c.9683C>A" ], "proteinEffect": { "hgvs": "XP_011512982.1:p.Ser3228Ter", "hgvsWellDefined": "XP_011512982.1:p.Ser3228_Leu4074delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543423" }, { "coordinates": [ { "allele": "A", "end": 9787, "referenceAllele": "C", "start": 9786 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514682.3:c.9545C>A" ], "proteinEffect": { "hgvs": "XP_011512984.1:p.Ser3182Ter", "hgvsWellDefined": "XP_011512984.1:p.Ser3182_Leu4028delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543424" }, { "coordinates": [ { "allele": "A", "end": 9283, "referenceAllele": "C", "start": 9282 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514683.3:c.9041C>A" ], "proteinEffect": { "hgvs": "XP_011512985.1:p.Ser3014Ter", "hgvsWellDefined": "XP_011512985.1:p.Ser3014_Leu3860delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543425" }, { "coordinates": [ { "allele": "A", "end": 9069, "referenceAllele": "C", "start": 9068 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514684.3:c.8972C>A" ], "proteinEffect": { "hgvs": "XP_011512986.1:p.Ser2991Ter", "hgvsWellDefined": "XP_011512986.1:p.Ser2991_Leu3837delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543426" }, { "coordinates": [ { "allele": "A", "end": 9959, "referenceAllele": "C", "start": 9958 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514686.2:c.9683C>A" ], "proteinEffect": { "hgvs": "XP_011512988.1:p.Ser3228Ter", "hgvsWellDefined": "XP_011512988.1:p.Ser3228_Pro3402delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyLeuLeuGlyThrLysGluGluPheProTyrValLeuTyrProLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543427" }, { "coordinates": [ { "allele": "A", "end": 9925, "referenceAllele": "C", "start": 9924 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514688.2:c.9683C>A" ], "proteinEffect": { "hgvs": "XP_011512990.1:p.Ser3228Ter", "hgvsWellDefined": "XP_011512990.1:p.Ser3228_Leu3278delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543428" }, { "coordinates": [ { "allele": "A", "end": 3845, "referenceAllele": "C", "start": 3844 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514690.3:c.3758C>A" ], "proteinEffect": { "hgvs": "XP_011512992.1:p.Ser1253Ter", "hgvsWellDefined": "XP_011512992.1:p.Ser1253_Leu2099delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543429" }, { "coordinates": [ { "allele": "A", "end": 9870, "referenceAllele": "C", "start": 9869 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514691.3:c.3758C>A" ], "proteinEffect": { "hgvs": "XP_011512993.1:p.Ser1253Ter", "hgvsWellDefined": "XP_011512993.1:p.Ser1253_Leu2099delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543430" }, { "coordinates": [ { "allele": "A", "end": 9785, "referenceAllele": "C", "start": 9784 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010944.2:c.9683C>A" ], "proteinEffect": { "hgvs": "XP_016866433.1:p.Ser3228Ter", "hgvsWellDefined": "XP_016866433.1:p.Ser3228_Leu4074delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564897" }, { "coordinates": [ { "allele": "A", "end": 9850, "referenceAllele": "C", "start": 9849 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010945.2:c.9608C>A" ], "proteinEffect": { "hgvs": "XP_016866434.1:p.Ser3203Ter", "hgvsWellDefined": "XP_016866434.1:p.Ser3203_Leu4049delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564898" }, { "coordinates": [ { "allele": "A", "end": 9730, "referenceAllele": "C", "start": 9729 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010946.2:c.9488C>A" ], "proteinEffect": { "hgvs": "XP_016866435.1:p.Ser3163Ter", "hgvsWellDefined": "XP_016866435.1:p.Ser3163_Leu4009delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564899" }, { "coordinates": [ { "allele": "A", "end": 9661, "referenceAllele": "C", "start": 9660 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010947.2:c.9419C>A" ], "proteinEffect": { "hgvs": "XP_016866436.1:p.Ser3140Ter", "hgvsWellDefined": "XP_016866436.1:p.Ser3140_Leu3986delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564900" }, { "coordinates": [ { "allele": "A", "end": 9743, "referenceAllele": "C", "start": 9742 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010948.2:c.8972C>A" ], "proteinEffect": { "hgvs": "XP_016866437.1:p.Ser2991Ter", "hgvsWellDefined": "XP_016866437.1:p.Ser2991_Leu3837delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564901" }, { "coordinates": [ { "allele": "A", "end": 8922, "referenceAllele": "C", "start": 8921 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010949.2:c.7823C>A" ], "proteinEffect": { "hgvs": "XP_016866438.1:p.Ser2608Ter", "hgvsWellDefined": "XP_016866438.1:p.Ser2608_Leu3454delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564902" }, { "coordinates": [ { "allele": "A", "end": 9959, "referenceAllele": "C", "start": 9958 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010950.1:c.9683C>A" ], "proteinEffect": { "hgvs": "XP_016866439.1:p.Ser3228Ter", "hgvsWellDefined": "XP_016866439.1:p.Ser3228_Ser3403delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaValGlnAspLysAsnLeuLeuSerSerSerValAsnGlnArgLysGlnCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564903" }, { "coordinates": [ { "allele": "A", "end": 9959, "referenceAllele": "C", "start": 9958 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XR_001743469.1:n.9959C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS592682" }, { "@id": "http://reg.genome.network/allele/PA645507931", "coordinates": [ { "allele": "A", "end": 9947, "referenceAllele": "C", "start": 9946 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_138694.4:c.9683C>A" ], "proteinEffect": { "hgvs": "NP_619639.3:p.Ser3228Ter", "hgvsWellDefined": "NP_619639.3:p.Ser3228_Leu4074delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyThrPheArgGluGluGlnLysCysThrTyrGlnPheLeuMetGlnGlyPheIleCysLysGlnThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371117.8:c.9683C>A" }, "RefSeq": { "hgvs": "NM_138694.4:c.9683C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360158.3:p.Ser3228Ter" }, "RefSeq": { "hgvs": "NP_619639.3:p.Ser3228Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916060066", "coordinates": [ { "allele": "A", "end": 9947, "referenceAllele": "C", "start": 9946 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_170724.3:c.9683C>A" ], "proteinEffect": { "hgvs": "NP_733842.2:p.Ser3228Ter", "hgvsWellDefined": "NP_733842.2:p.Ser3228_Glu3396delinsThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaValThrThrGluGlnAlaLeuLysIleSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700451" } ], "type": "nucleotide" }