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}, "referenceSequence": "http://reg.genome.network/refseq/RS081913" }, { "coordinates": [ { "allele": "A", "end": 7445, "referenceAllele": "G", "start": 7444 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514689.1:c.7194G>A" ], "proteinEffect": { "hgvs": "XP_011512991.1:p.Trp2398Ter", "hgvsWellDefined": "XP_011512991.1:p.Trp2398_Thr2770delinsGluSerAlaGlyGlyAlaGlnIlePheArgSerSerAsnLeuArgLeuLysAsnPheLysValTyrSerCysArgAspPheGlyIleAspValLeuGluSerAspAlaAsnThrSerValThrAspSerLeuLeuLeuGlyHisPheAlaHisLysGlySerLeuCysMetSerSerGlyIleLysThrProLysArgTrpGluLeuMetValSerAsnThrThrPheValAsnPheAspLeuIleAsnCysValAlaIleArgThrCysSerAspCysSerGlnGlyGlnGlyGlyPheThrValLysThrSerGlnLeuLysPheThrAsnSerSerAsnLeuValAlaPheProPheProHisAlaAlaIleLeuGluAspLeuAspGlySerLeuSerGlyLysAsnArgSerHisIleLeuAlaSerMetGluThrLeuSerAlaSerCysLeuValAsnSerSerPheGlyArgValValHisGlySerAlaCysGlyGlyGlyValLeuPheHisArgMetSerIleGlyLeuAlaAsnThrProGluValSerTyrAspLeuThrMetThrAspSerArgAsnLysThrThrThrValAsnTyrValArgAspThrLeuSerAsnProArgGlyTrpMetAlaLeuLeuLeuAspGlnGluThrTyrSerLeuGlnSerGluAsnLeuTrpIleAsnArgSerLeuGlnTyrSerAlaThrPheAspAsnPheAlaProGlyAsnTyrLeuLeuLeuValHisThrAspLeuProProTyrProAspIleLeuLeuArgCysGlySerArgValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProThrPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081914" }, { "coordinates": [ { "allele": "A", "end": 1308, "referenceAllele": "G", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514690.1:c.1269G>A" ], "proteinEffect": { "hgvs": "XP_011512992.1:p.Trp423Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS081915" }, { "coordinates": [ { "allele": "A", "end": 1627, "referenceAllele": "G", "start": 1626 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514691.1:c.1269G>A" ], "proteinEffect": { "hgvs": "XP_011512993.1:p.Trp423Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS081916" }, { "coordinates": [ { "allele": "A", "end": 7814, "referenceAllele": "G", "start": 7813 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514680.3:c.7194G>A" ], "proteinEffect": { "hgvs": "XP_011512982.1:p.Trp2398Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS543423" }, { "coordinates": [ { "allele": "A", "end": 7436, "referenceAllele": "G", "start": 7435 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514682.3:c.7194G>A" ], "proteinEffect": { "hgvs": "XP_011512984.1:p.Trp2398Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS543424" }, { "coordinates": [ { "allele": "A", "end": 6794, "referenceAllele": "G", "start": 6793 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514683.3:c.6552G>A" ], "proteinEffect": { "hgvs": "XP_011512985.1:p.Trp2184Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS543425" }, { "coordinates": [ { "allele": "A", "end": 6580, "referenceAllele": "G", "start": 6579 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514684.3:c.6483G>A" ], "proteinEffect": { "hgvs": "XP_011512986.1:p.Trp2161Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS543426" }, { "coordinates": [ { "allele": "A", "end": 7470, "referenceAllele": "G", "start": 7469 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514686.2:c.7194G>A" ], "proteinEffect": { "hgvs": "XP_011512988.1:p.Trp2398Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS543427" }, { "coordinates": [ { "allele": "A", "end": 7436, "referenceAllele": "G", "start": 7435 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514688.2:c.7194G>A" ], "proteinEffect": { "hgvs": "XP_011512990.1:p.Trp2398Ter", "hgvsWellDefined": "XP_011512990.1:p.Trp2398_Leu3278delinsGluSerAlaGlyGlyAlaGlnIlePheArgSerSerAsnLeuArgLeuLysAsnPheLysValTyrSerCysArgAspPheGlyIleAspValLeuGluSerAspAlaAsnThrSerValThrAspSerLeuLeuLeuGlyHisPheAlaHisLysGlySerLeuCysMetSerSerGlyIleLysThrProLysArgTrpGluLeuMetValSerAsnThrThrPheValAsnPheAspLeuIleAsnCysValAlaIleArgThrCysSerAspCysSerGlnGlyGlnGlyGlyPheThrValLysThrSerGlnLeuLysPheThrAsnSerSerAsnLeuValAlaPheProPheProHisAlaAlaIleLeuGluAspLeuAspGlySerLeuSerGlyLysAsnArgSerHisIleLeuAlaSerMetGluThrLeuSerAlaSerCysLeuValAsnSerSerPheGlyArgValValHisGlySerAlaCysGlyGlyGlyValLeuPheHisArgMetSerIleGlyLeuAlaAsnThrProGluValSerTyrAspLeuThrMetThrAspSerArgAsnLysThrThrThrValAsnTyrValArgAspThrLeuSerAsnProArgGlyTrpMetAlaLeuLeuLeuAspGlnGluThrTyrSerLeuGlnSerGluAsnLeuTrpIleAsnArgSerLeuGlnTyrSerAlaThrPheAspAsnPheAlaProGlyAsnTyrLeuLeuLeuValHisThrAspLeuProProTyrProAspIleLeuLeuArgCysGlySerArgValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProAsnArgThrValLeuValAspThrAspLeuProPhePheLysGlyLeuTyrValMetGlyThrLeuAspPheProValAspArgSerAsnValLeuSerValAlaCysMetValIleAlaGlyGlyGluLeuLysValGlyThrLeuGluAsnProLeuGluLysGluGlnLysLeuLeuIleLeuLeuArgAlaSerGluGlyValPheCysAspArgMetAsnGlyIleHisIleAspProGlyThrIleGlyValTyrGlyLysValHisLeuTyrSerAlaTyrProLysAsnSerTrpThrHisLeuGlyAlaAspIleAlaSerGlyAsnGluArgIleIleValGluAspAlaValAspTrpArgProHisAspLysIleValLeuSerSerSerSerTyrGluProHisGluAlaGluValLeuThrValLysGluValLysGlyHisHisValArgIleTyrGluArgLeuLysHisArgHisIleGlySerValHisValThrGluAspGlyArgHisIleArgLeuAlaAlaGluValGlyLeuLeuThrArgAsnIleGlnIleGlnProAspValSerCysArgGlyArgLeuPheValGlySerPheArgLysSerSerArgGluGluPheSerGlyValLeuGlnLeuLeuAsnValGluIleGlnAsnPheGlySerProLeuTyrSerSerValGluPheSerAsnValSerAlaGlySerTrpIleIleSerSerThrLeuHisGlnSerCysGlyGlyGlyIleHisAlaAlaAlaSerHisGlyValLeuLeuAsnAspAsnIleValPheGlyThrAlaGlyHisGlyIleAspLeuGluGlyGlnAlaTyrThrValThrAsnAsnLeuValValLeuMetThrGlnProAlaTrpSerThrIleTrpValAlaGlyIleLysValAsnGlnValLysAspIleAsnLeuHisGlyAsnValValAlaGlySerGluArgLeuGlyPheHisIleArgGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnValLeuTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS564904" }, { "coordinates": [ { "allele": "A", "end": 7436, "referenceAllele": "G", "start": 7435 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010952.1:c.7194G>A" ], "proteinEffect": { "hgvs": "XP_016866441.1:p.Trp2398Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS564905" }, { "coordinates": [ { "allele": "A", "end": 7470, "referenceAllele": "G", "start": 7469 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XR_001743469.1:n.7470G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS592682" }, { "coordinates": [ { "allele": "A", "end": 7458, "referenceAllele": "G", "start": 7457 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_138694.4:c.7194G>A" ], "proteinEffect": { "hgvs": "NP_619639.3:p.Trp2398Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS699767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371117.8:c.7194G>A" }, "RefSeq": { "hgvs": "NM_138694.4:c.7194G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360158.3:p.Trp2398Ter" }, "RefSeq": { "hgvs": "NP_619639.3:p.Trp2398Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916059695", "coordinates": [ { "allele": "A", "end": 7458, "referenceAllele": "G", "start": 7457 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_170724.3:c.7194G>A" ], "proteinEffect": { "hgvs": "NP_733842.2:p.Trp2398Ter", "hgvsWellDefined": "NP_733842.2:p.Trp2398_Glu3396delinsGluSerAlaGlyGlyAlaGlnIlePheArgSerSerAsnLeuArgLeuLysAsnPheLysValTyrSerCysArgAspPheGlyIleAspValLeuGluSerAspAlaAsnThrSerValThrAspSerLeuLeuLeuGlyHisPheAlaHisLysGlySerLeuCysMetSerSerGlyIleLysThrProLysArgTrpGluLeuMetValSerAsnThrThrPheValAsnPheAspLeuIleAsnCysValAlaIleArgThrCysSerAspCysSerGlnGlyGlnGlyGlyPheThrValLysThrSerGlnLeuLysPheThrAsnSerSerAsnLeuValAlaPheProPheProHisAlaAlaIleLeuGluAspLeuAspGlySerLeuSerGlyLysAsnArgSerHisIleLeuAlaSerMetGluThrLeuSerAlaSerCysLeuValAsnSerSerPheGlyArgValValHisGlySerAlaCysGlyGlyGlyValLeuPheHisArgMetSerIleGlyLeuAlaAsnThrProGluValSerTyrAspLeuThrMetThrAspSerArgAsnLysThrThrThrValAsnTyrValArgAspThrLeuSerAsnProArgGlyTrpMetAlaLeuLeuLeuAspGlnGluThrTyrSerLeuGlnSerGluAsnLeuTrpIleAsnArgSerLeuGlnTyrSerAlaThrPheAspAsnPheAlaProGlyAsnTyrLeuLeuLeuValHisThrAspLeuProProTyrProAspIleLeuLeuArgCysGlySerArgValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProAsnArgThrValLeuValAspThrAspLeuProPhePheLysGlyLeuTyrValMetGlyThrLeuAspPheProValAspArgSerAsnValLeuSerValAlaCysMetValIleAlaGlyGlyGluLeuLysValGlyThrLeuGluAsnProLeuGluLysGluGlnLysLeuLeuIleLeuLeuArgAlaSerGluGlyValPheCysAspArgMetAsnGlyIleHisIleAspProGlyThrIleGlyValTyrGlyLysValHisLeuTyrSerAlaTyrProLysAsnSerTrpThrHisLeuGlyAlaAspIleAlaSerGlyAsnGluArgIleIleValGluAspAlaValAspTrpArgProHisAspLysIleValLeuSerSerSerSerTyrGluProHisGluAlaGluValLeuThrValLysGluValLysGlyHisHisValArgIleTyrGluArgLeuLysHisArgHisIleGlySerValHisValThrGluAspGlyArgHisIleArgLeuAlaAlaGluValGlyLeuLeuThrArgAsnIleGlnIleGlnProAspValSerCysArgGlyArgLeuPheValGlySerPheArgLysSerSerArgGluGluPheSerGlyValLeuGlnLeuLeuAsnValGluIleGlnAsnPheGlySerProLeuTyrSerSerValGluPheSerAsnValSerAlaGlySerTrpIleIleSerSerThrLeuHisGlnSerCysGlyGlyGlyIleHisAlaAlaAlaSerHisGlyValLeuLeuAsnAspAsnIleValPheGlyThrAlaGlyHisGlyIleAspLeuGluGlyGlnAlaTyrThrValThrAsnAsnLeuValValLeuMetThrGlnProAlaTrpSerThrIleTrpValAlaGlyIleLysValAsnGlnValLysAspIleAsnLeuHisGlyAsnValValAlaGlySerGluArgLeuGlyPheHisIleArgGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaValThrThrGluGlnAlaLeuLysIleSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700451" } ], "type": "nucleotide" }