{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA275361", "communityStandardTitle": [ "NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195475[alleleid]", "alleleId": 195475, "preferredName": "NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198314", "RCV": [ "RCV000627228", "RCV000845132", "RCV000844922", "RCV002267610" ], "variationId": 198314 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-51524705-G-A", "id": "6-51524705-G-A", "variant": "6:51524705 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.51524705G>A?assembly=hg19", "id": "chr6:g.51524705G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.51659907G>A?assembly=hg38", "id": "chr6:g.51659907G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/781368899", "rs": 781368899 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-51524705-G-A?dataset=gnomad_r2_1", "id": "6-51524705-G-A", "variant": "6:51524705 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-51659907-G-A?dataset=gnomad_r3", "id": "6-51659907-G-A", "variant": "6:51659907 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-51659907-G-A?dataset=gnomad_r4", "id": "6-51659907-G-A", "variant": "6:51659907 G / A" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 51659907, "referenceAllele": "G", "start": 51659906 } ], "hgvs": [ "NC_000006.12:g.51659907G>A", "CM000668.2:g.51659907G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 51524705, "referenceAllele": "G", "start": 51524704 } ], "hgvs": [ "NC_000006.11:g.51524705G>A", "CM000668.1:g.51524705G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 51632664, "referenceAllele": "G", "start": 51632663 } ], "hgvs": [ "NC_000006.10:g.51632664G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 432719, "referenceAllele": "C", "start": 432718 } ], "hgvs": [ "NG_008753.1:g.432719C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001200" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 10483, "referenceAllele": "C", "start": 10482 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "ENST00000371117.8:c.10219C>T" ], "proteinEffect": { "hgvs": "ENSP00000360158.3:p.Gln3407Ter", "hgvsWellDefined": "ENSP00000360158.3:p.Gln3407_Leu4074delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750727", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371117.8:c.10219C>T" }, "RefSeq": { "hgvs": "NM_138694.4:c.10219C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360158.3:p.Gln3407Ter" }, "RefSeq": { "hgvs": "NP_619639.3:p.Gln3407Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 10495, "referenceAllele": "C", "start": 10494 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "ENST00000371117.7:c.10219C>T" ], "proteinEffect": { "hgvs": "ENSP00000360158.3:p.Gln3407Ter", "hgvsWellDefined": "ENSP00000360158.3:p.Gln3407_Leu4074delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268422" }, { "@id": "http://reg.genome.network/allele/PA275362", "coordinates": [ { "allele": "T", "end": 10495, "referenceAllele": "C", "start": 10494 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_138694.3:c.10219C>T" ], "proteinEffect": { "hgvs": "NP_619639.3:p.Gln3407Ter", "hgvsWellDefined": "NP_619639.3:p.Gln3407_Leu4074delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040823" }, { "coordinates": [ { "allele": "T", "end": 10319, "referenceAllele": "C", "start": 10318 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514679.1:c.10219C>T" ], "proteinEffect": { "hgvs": "XP_011512981.1:p.Gln3407Ter", "hgvsWellDefined": "XP_011512981.1:p.Gln3407_Leu4074delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081904" }, { "coordinates": [ { "allele": "T", "end": 10331, "referenceAllele": "C", "start": 10330 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514680.1:c.10219C>T" ], "proteinEffect": { "hgvs": "XP_011512982.1:p.Gln3407Ter", "hgvsWellDefined": "XP_011512982.1:p.Gln3407_Leu4074delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081905" }, { "coordinates": [ { "allele": "T", "end": 10341, "referenceAllele": "C", "start": 10340 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514681.1:c.10090C>T" ], "proteinEffect": { "hgvs": "XP_011512983.1:p.Gln3364Ter", "hgvsWellDefined": "XP_011512983.1:p.Gln3364_Leu4031delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081906" }, { "coordinates": [ { "allele": "T", "end": 10332, "referenceAllele": "C", "start": 10331 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514682.1:c.10081C>T" ], "proteinEffect": { "hgvs": "XP_011512984.1:p.Gln3361Ter", "hgvsWellDefined": "XP_011512984.1:p.Gln3361_Leu4028delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081907" }, { "coordinates": [ { "allele": "T", "end": 9828, "referenceAllele": "C", "start": 9827 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514683.1:c.9577C>T" ], "proteinEffect": { "hgvs": "XP_011512985.1:p.Gln3193Ter", "hgvsWellDefined": "XP_011512985.1:p.Gln3193_Leu3860delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081908" }, { "coordinates": [ { "allele": "T", "end": 9592, "referenceAllele": "C", "start": 9591 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514684.1:c.9508C>T" ], "proteinEffect": { "hgvs": "XP_011512986.1:p.Gln3170Ter", "hgvsWellDefined": "XP_011512986.1:p.Gln3170_Leu3837delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081909" }, { "coordinates": [ { "allele": "T", "end": 10432, "endIntronDirection": "-", "endIntronOffset": 10686, "referenceAllele": "C", "start": 10432, "startIntronDirection": "-", "startIntronOffset": 10687 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514687.1:c.10157-10687C>T" ], "proteinEffect": { "hgvs": "XP_011512989.1:n.10157-10687C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS081912" }, { "coordinates": [ { "allele": "T", "end": 4333, "referenceAllele": "C", "start": 4332 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514690.1:c.4294C>T" ], "proteinEffect": { "hgvs": "XP_011512992.1:p.Gln1432Ter", "hgvsWellDefined": "XP_011512992.1:p.Gln1432_Leu2099delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081915" }, { "coordinates": [ { "allele": "T", "end": 4652, "referenceAllele": "C", "start": 4651 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514691.1:c.4294C>T" ], "proteinEffect": { "hgvs": "XP_011512993.1:p.Gln1432Ter", "hgvsWellDefined": "XP_011512993.1:p.Gln1432_Leu2099delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081916" }, { "coordinates": [ { "allele": "A", "end": 535, "endIntronDirection": "+", "endIntronOffset": 7534, "referenceAllele": "G", "start": 535, "startIntronDirection": "+", "startIntronOffset": 7533 } ], "hgvs": [ "XR_926870.1:n.535+7534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS123380" }, { "coordinates": [ { "allele": "A", "end": 403, "endIntronDirection": "+", "endIntronOffset": 7534, "referenceAllele": "G", "start": 403, "startIntronDirection": "+", "startIntronOffset": 7533 } ], "hgvs": [ "XR_926871.1:n.403+7534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS123381" }, { "coordinates": [ { "allele": "A", "end": 535, "endIntronDirection": "+", "endIntronOffset": 7534, "referenceAllele": "G", "start": 535, "startIntronDirection": "+", "startIntronOffset": 7533 } ], "hgvs": [ "XR_926872.1:n.535+7534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS123382" }, { "coordinates": [ { "allele": "T", "end": 10839, "referenceAllele": "C", "start": 10838 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514680.3:c.10219C>T" ], "proteinEffect": { "hgvs": "XP_011512982.1:p.Gln3407Ter", "hgvsWellDefined": "XP_011512982.1:p.Gln3407_Leu4074delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543423" }, { "coordinates": [ { "allele": "T", "end": 10323, "referenceAllele": "C", "start": 10322 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514682.3:c.10081C>T" ], "proteinEffect": { "hgvs": "XP_011512984.1:p.Gln3361Ter", "hgvsWellDefined": "XP_011512984.1:p.Gln3361_Leu4028delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543424" }, { "coordinates": [ { "allele": "T", "end": 9819, "referenceAllele": "C", "start": 9818 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514683.3:c.9577C>T" ], "proteinEffect": { "hgvs": "XP_011512985.1:p.Gln3193Ter", "hgvsWellDefined": "XP_011512985.1:p.Gln3193_Leu3860delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543425" }, { "coordinates": [ { "allele": "T", "end": 9605, "referenceAllele": "C", "start": 9604 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514684.3:c.9508C>T" ], "proteinEffect": { "hgvs": "XP_011512986.1:p.Gln3170Ter", "hgvsWellDefined": "XP_011512986.1:p.Gln3170_Leu3837delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543426" }, { "coordinates": [ { "allele": "T", "end": 4381, "referenceAllele": "C", "start": 4380 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514690.3:c.4294C>T" ], "proteinEffect": { "hgvs": "XP_011512992.1:p.Gln1432Ter", "hgvsWellDefined": "XP_011512992.1:p.Gln1432_Leu2099delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543429" }, { "coordinates": [ { "allele": "T", "end": 10406, "referenceAllele": "C", "start": 10405 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514691.3:c.4294C>T" ], "proteinEffect": { "hgvs": "XP_011512993.1:p.Gln1432Ter", "hgvsWellDefined": "XP_011512993.1:p.Gln1432_Leu2099delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543430" }, { "coordinates": [ { "allele": "T", "end": 10321, "referenceAllele": "C", "start": 10320 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010944.2:c.10219C>T" ], "proteinEffect": { "hgvs": "XP_016866433.1:p.Gln3407Ter", "hgvsWellDefined": "XP_016866433.1:p.Gln3407_Leu4074delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564897" }, { "coordinates": [ { "allele": "T", "end": 10386, "referenceAllele": "C", "start": 10385 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010945.2:c.10144C>T" ], "proteinEffect": { "hgvs": "XP_016866434.1:p.Gln3382Ter", "hgvsWellDefined": "XP_016866434.1:p.Gln3382_Leu4049delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564898" }, { "coordinates": [ { "allele": "T", "end": 10266, "referenceAllele": "C", "start": 10265 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010946.2:c.10024C>T" ], "proteinEffect": { "hgvs": "XP_016866435.1:p.Gln3342Ter", "hgvsWellDefined": "XP_016866435.1:p.Gln3342_Leu4009delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564899" }, { "coordinates": [ { "allele": "T", "end": 10197, "referenceAllele": "C", "start": 10196 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010947.2:c.9955C>T" ], "proteinEffect": { "hgvs": "XP_016866436.1:p.Gln3319Ter", "hgvsWellDefined": "XP_016866436.1:p.Gln3319_Leu3986delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564900" }, { "coordinates": [ { "allele": "T", "end": 10279, "referenceAllele": "C", "start": 10278 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010948.2:c.9508C>T" ], "proteinEffect": { "hgvs": "XP_016866437.1:p.Gln3170Ter", "hgvsWellDefined": "XP_016866437.1:p.Gln3170_Leu3837delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564901" }, { "coordinates": [ { "allele": "T", "end": 9458, "referenceAllele": "C", "start": 9457 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010949.2:c.8359C>T" ], "proteinEffect": { "hgvs": "XP_016866438.1:p.Gln2787Ter", "hgvsWellDefined": "XP_016866438.1:p.Gln2787_Leu3454delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564902" }, { "coordinates": [ { "allele": "T", "end": 10495, "referenceAllele": "C", "start": 10494 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XR_001743469.1:n.10495C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592682" }, { "coordinates": [ { "allele": "A", "end": 3145, "endIntronDirection": "+", "endIntronOffset": 7534, "referenceAllele": "G", "start": 3145, "startIntronDirection": "+", "startIntronOffset": 7533 } ], "hgvs": [ "XR_001744157.1:n.3145+7534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS593061" }, { "coordinates": [ { "allele": "A", "end": 3145, "endIntronDirection": "+", "endIntronOffset": 7534, "referenceAllele": "G", "start": 3145, "startIntronDirection": "+", "startIntronOffset": 7533 } ], "hgvs": [ "XR_926870.2:n.3145+7534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608366" }, { "coordinates": [ { "allele": "A", "end": 3013, "endIntronDirection": "+", "endIntronOffset": 7534, "referenceAllele": "G", "start": 3013, "startIntronDirection": "+", "startIntronOffset": 7533 } ], "hgvs": [ "XR_926871.2:n.3013+7534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608367" }, { "coordinates": [ { "allele": "A", "end": 3145, "endIntronDirection": "+", "endIntronOffset": 7534, "referenceAllele": "G", "start": 3145, "startIntronDirection": "+", "startIntronOffset": 7533 } ], "hgvs": [ "XR_926872.2:n.3145+7534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608368" }, { "@id": "http://reg.genome.network/allele/PA275362", "coordinates": [ { "allele": "T", "end": 10483, "referenceAllele": "C", "start": 10482 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_138694.4:c.10219C>T" ], "proteinEffect": { "hgvs": "NP_619639.3:p.Gln3407Ter", "hgvsWellDefined": "NP_619639.3:p.Gln3407_Leu4074delinsThrAspGlnValValLeuIleLeuAspSerAlaAspAlaIleTrpAlaIleGlnLysLeuTyrProValValSerValThrSerGlyPheValAspValPheSerSerValAsnAlaAsnIleProCysSerThrSerGlySerValSerThrPheTyrSerIleLeuProIleArgGlnIleThrLysValCysPheMetAspGlnThrProGlnValLeuArgPhePheLeuLeuGlyAsnLysSerThrSerLysLeuLeuLeuAlaValPheTyrHisGluLeuGlnSerProHisValPheLeuGlyGluSerPheIleProProThrLeuValGlnSerAlaSerLeuLeuLeuAsnGluSerIleGlyAlaAsnTyrPheAsnIleMetAspAsnLeuLeuTyrValValLeuGlnGlyGluGluProIleGluIleArgSerGlyValSerIleHisLeuAlaLeuThrValMetValSerValLeuGluLysGlyTrpGluIleValIleLeuGluArgLeuThrAsnPheLeuGlnIleGlyGlnAsnGlnIleArgPheIleHisGluMetProGlyHisGluGluThrLeuLysAlaIleAlaAspSerArgAlaLysArgLysArgAsnCysProThrValThrCysThrSerHisTyrArgArgValGlyGlnArgArgProLeuMetMetGluMetAsnSerHisArgAlaSerProProMetThrValGluThrIleSerLysValIleValIleGluIleGlyAspSerProThrValArgSerThrGlyMetIleSerSerLeuSerSerAsnLysLeuGlnAsnLeuAlaHisArgValIleThrAlaGlnGlnThrGlyValLeuGluAsnValLeuAsnMetThrIleGlyAlaLeuLeuValThrGlnSerLysGlyValIleGlyTyrGlyAsnThrSerSerPheLysThrGlyAsnLeuIleTyrIleArgProTyrAlaLeuSerIleLeuValGlnProSerAspGlyGluValGlyAsnGluLeuProValGlnProGlnLeuValPheLeuAspGluGlnAsnArgArgValGluSerLeuGlyProProSerGluProTrpThrIleSerAlaSerLeuGluGlyAlaSerAspSerValLeuLysGlyCysThrGlnAlaGluThrGlnAspGlyTyrValSerPheTyrAsnLeuAlaValLeuIleSerGlySerAsnTrpHisPheIlePheThrValThrSerProProGlyValAsnPheThrAlaArgSerLysProPheAlaValLeuProValThrArgLysGluLysSerThrIleIleLeuAlaAlaSerLeuSerSerValAlaSerTrpLeuAlaLeuSerCysLeuValCysCysTrpLeuLysArgSerLysSerArgLysThrLysProGluGluIleProGluSerGlnThrAsnAsnGlnAsnIleHisIleHisIleSerSerLysArgArgGluSerGlnGlyProLysLysGluAspThrValValGlyGluAspMetArgMetLysValMetLeuGlyLysValAsnGlnCysProHisGlnLeuMetAsnGlyValSerArgArgLysValSerArgHisIleValArgGluGluGluAlaAlaValProAlaProGlyThrThrGlyIleThrSerHisGlyHisIleCysAlaProGlyAlaProAlaGlnGlnValTyrLeuGlnGluThrGlyAsnTrpLysGluGlyGlnGluGlnLeuLeuArgTyrGlnLeuAlaGlyGlnAsnGlnLeuLeuLeuLeuCysProAspPheArgGlnGluArgGlnGlnLeuProGlyGlnSerArgLeuSerLysGlnSerGlySerLeuGlyLeuSerGlnGluLysLysAlaSerCysGlyAlaThrGluAlaPheCysLeuHisSerValHisProGluThrIleGlnGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371117.8:c.10219C>T" }, "RefSeq": { "hgvs": "NM_138694.4:c.10219C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360158.3:p.Gln3407Ter" }, "RefSeq": { "hgvs": "NP_619639.3:p.Gln3407Ter" } } } } ], "type": "nucleotide" }