{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA116308", "communityStandardTitle": [ "NM_001128178.3(NPHP1):c.80T>A (p.Leu27Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18548[alleleid]", "alleleId": 18548, "preferredName": "NM_001128178.3(NPHP1):c.80T>A (p.Leu27Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3509", "RCV": [ "RCV000003684", "RCV000234828" ], "variationId": 3509 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.110959061A>T?assembly=hg19", "id": "chr2:g.110959061A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.110201484A>T?assembly=hg38", "id": "chr2:g.110201484A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121907898", "rs": 121907898 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 110201484, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS756051", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000445609.7:c.80T>A" }, "RefSeq": { "hgvs": "NM_001128178.3:c.80T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389879.3:p.Leu27Ter" }, "RefSeq": { "hgvs": "NP_001121650.1:p.Leu27Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 11, "referenceAllele": "T", "start": 10 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "ENST00000674677.1:c.11T>A" ], "proteinEffect": { "hgvs": "ENSP00000502265.1:p.Leu4Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774611" }, { "coordinates": [ { "allele": "A", "end": 89, "endIntronDirection": "+", "endIntronOffset": 3416, "referenceAllele": "T", "start": 89, "startIntronDirection": "+", "startIntronOffset": 3415 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "ENST00000675067.1:c.-2211+3416T>A" ], "proteinEffect": { "hgvs": "ENSP00000502817.1:n.-2211+3416T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774939" }, { "coordinates": [ { "allele": "A", "end": 119, "referenceAllele": "T", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "ENST00000675356.1:n.119T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775186" }, { "coordinates": [ { "allele": "A", "end": 95, "referenceAllele": "T", "start": 94 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "ENST00000675752.1:n.95T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775530" }, { "coordinates": [ { "allele": "A", "end": 101, "referenceAllele": "T", "start": 100 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "ENST00000676028.1:c.80T>A" ], "proteinEffect": { "hgvs": "ENSP00000502639.1:p.Leu27Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS775768" }, { "coordinates": [ { "allele": "A", "end": 100, "referenceAllele": "T", "start": 99 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "ENST00000676053.1:c.80T>A" ], "proteinEffect": { "hgvs": "ENSP00000502475.1:p.Leu27Ter", "hgvsWellDefined": "ENSP00000502475.1:p.Leu28_Val614delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775791" }, { "coordinates": [ { "allele": "A", "end": 119, "referenceAllele": "T", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "ENST00000676165.1:n.119T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775885" }, { "coordinates": [ { "allele": "A", "end": 95, "referenceAllele": "T", "start": 94 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "ENST00000676258.1:n.95T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775968" }, { "coordinates": [ { "allele": "A", "end": 154, "referenceAllele": "T", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "ENST00000316534.8:c.80T>A" ], "proteinEffect": { "hgvs": "ENSP00000313169.4:p.Leu27Ter", "hgvsWellDefined": "ENSP00000313169.4:p.Leu28_Val733delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluAlaGlyIlePheCysLeuValAsnHisValSerPheCysTyrLeuIleValLeuMetArgAsnArgMetGluThrValGluAspThrAsnGlySerGluThrGlyPheArgAlaTrpAsnValGlnSerArgGlyArgIlePheLeuValSerLysProValLeuGlnGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257243" }, { "coordinates": [ { "allele": "A", "end": 84, "referenceAllele": "T", "start": 83 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "ENST00000355301.8:c.80T>A" ], "proteinEffect": { "hgvs": "ENSP00000347452.4:p.Leu27Ter", "hgvsWellDefined": "ENSP00000347452.4:p.Leu28_Val614delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263397" }, { "coordinates": [ { "allele": "A", "end": 178, "referenceAllele": "T", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "ENST00000393272.7:c.80T>A" ], "proteinEffect": { "hgvs": "ENSP00000376953.3:p.Leu27Ter", "hgvsWellDefined": "ENSP00000376953.3:p.Leu28_Val732delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluAlaGlyIlePheCysLeuValAsnHisValSerPheCysTyrLeuIleValLeuMetArgAsnArgMetGluThrValGluAspThrAsnGlySerGluThrGlyPheArgAlaTrpAsnValGlnSerArgGlyArgIlePheLeuValSerLysProValLeuGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275531" }, { "coordinates": [ { "allele": "A", "end": 107, "referenceAllele": "T", "start": 106 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "ENST00000417665.5:c.80T>A" ], "proteinEffect": { "hgvs": "ENSP00000402176.1:p.Leu27Ter", "hgvsWellDefined": "ENSP00000402176.1:p.Leu28_Val711delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysLeuSerLysProValSerProArgGluGlyLysLysLysTrpProGluLeuTyrHisIleLeuLysThrMetHisCysSerCysLeuProCysTyrLysIleMetArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS285029" }, { "coordinates": [ { "allele": "A", "end": 111, "referenceAllele": "T", "start": 110 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "ENST00000418527.1:c.80T>A" ], "proteinEffect": { "hgvs": "ENSP00000412351.1:p.Leu27Ter", "hgvsWellDefined": "ENSP00000412351.1:p.Leu28_Phe121delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluTyrAlaSerPheLeuProPhePhePheLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS285440" }, { "coordinates": [ { "allele": "A", "end": 104, "referenceAllele": "T", "start": 103 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "ENST00000445609.6:c.80T>A" ], "proteinEffect": { "hgvs": "ENSP00000389879.2:p.Leu27Ter", "hgvsWellDefined": "ENSP00000389879.2:p.Leu28_Val677delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS298362" }, { "coordinates": [ { "allele": "A", "end": 180, "referenceAllele": "T", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "ENST00000449600.1:c.180T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS300296" }, { "coordinates": [ { "allele": "A", "end": 113, "referenceAllele": "T", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "ENST00000461707.5:n.113T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS306157" }, { "coordinates": [ { "allele": "A", "end": 129, "referenceAllele": "T", "start": 128 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "ENST00000496524.5:n.129T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS332964" }, { "@id": "http://reg.genome.network/allele/PA116309", "coordinates": [ { "allele": "A", "end": 174, "referenceAllele": "T", "start": 173 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "NM_000272.3:c.80T>A" ], "proteinEffect": { "hgvs": "NP_000263.2:p.Leu27Ter", "hgvsWellDefined": "NP_000263.2:p.Leu28_Val733delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluAlaGlyIlePheCysLeuValAsnHisValSerPheCysTyrLeuIleValLeuMetArgAsnArgMetGluThrValGluAspThrAsnGlySerGluThrGlyPheArgAlaTrpAsnValGlnSerArgGlyArgIlePheLeuValSerLysProValLeuGlnGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006334" }, { "@id": "http://reg.genome.network/allele/PA2825665190", "coordinates": [ { "allele": "A", "end": 174, "referenceAllele": "T", "start": 173 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "NM_001128178.1:c.80T>A" ], "proteinEffect": { "hgvs": "NP_001121650.1:p.Leu27Ter", "hgvsWellDefined": "NP_001121650.1:p.Leu28_Val677delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011740" }, { "@id": "http://reg.genome.network/allele/PA2825665657", "coordinates": [ { "allele": "A", "end": 174, "referenceAllele": "T", "start": 173 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "NM_001128179.1:c.80T>A" ], "proteinEffect": { "hgvs": "NP_001121651.1:p.Leu27Ter", "hgvsWellDefined": "NP_001121651.1:p.Leu28_Val614delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011741" }, { "@id": "http://reg.genome.network/allele/PA916074027", "coordinates": [ { "allele": "A", "end": 174, "referenceAllele": "T", "start": 173 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "NM_207181.2:c.80T>A" ], "proteinEffect": { "hgvs": "NP_997064.2:p.Leu27Ter", "hgvsWellDefined": "NP_997064.2:p.Leu28_Val732delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluAlaGlyIlePheCysLeuValAsnHisValSerPheCysTyrLeuIleValLeuMetArgAsnArgMetGluThrValGluAspThrAsnGlySerGluThrGlyPheArgAlaTrpAsnValGlnSerArgGlyArgIlePheLeuValSerLysProValLeuGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045411" }, { "coordinates": [ { "allele": "A", "end": 123, "referenceAllele": "T", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "XM_005263675.1:c.80T>A" ], "proteinEffect": { "hgvs": "XP_005263732.1:p.Leu27Ter", "hgvsWellDefined": "XP_005263732.1:p.Leu28_Val767delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluAlaGlyIlePheCysLeuValAsnHisValSerPheCysTyrLeuIleValLeuMetArgAsnArgMetGluThrValGluAspThrAsnGlySerGluThrGlyPheArgAlaTrpAsnValGlnSerArgGlyArgIlePheLeuValSerLysProValLeuGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysLeuSerLysProValSerProArgGluGlyLysLysLysTrpProGluLeuTyrHisIleLeuLysThrMetHisCysSerCysLeuProCysTyrLysIleMetArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063906" }, { "coordinates": [ { "allele": "A", "end": 123, "referenceAllele": "T", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "XM_005263676.1:c.80T>A" ], "proteinEffect": { "hgvs": "XP_005263733.1:p.Leu27Ter", "hgvsWellDefined": "XP_005263733.1:p.Leu28_Val712delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysLeuSerLysProValSerProArgGluGlyLysLysLysTrpProGluLeuTyrHisIleLeuLysThrMetHisCysSerCysLeuProCysTyrLysIleMetArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063907" }, { "coordinates": [ { "allele": "A", "end": 123, "referenceAllele": "T", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "XM_005263677.1:c.80T>A" ], "proteinEffect": { "hgvs": "XP_005263734.1:p.Leu27Ter", "hgvsWellDefined": "XP_005263734.1:p.Leu28_Val711delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysLeuSerLysProValSerProArgGluGlyLysLysLysTrpProGluLeuTyrHisIleLeuLysThrMetHisCysSerCysLeuProCysTyrLysIleMetArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063908" }, { "coordinates": [ { "allele": "A", "end": 123, "referenceAllele": "T", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "XM_005263678.2:c.80T>A" ], "proteinEffect": { "hgvs": "XP_005263735.1:p.Leu27Ter", "hgvsWellDefined": "XP_005263735.1:p.Leu28_Leu686delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluAlaGlyIlePheCysLeuValAsnHisValSerPheCysTyrLeuIleValLeuMetArgAsnArgMetGluThrValGluAspThrAsnGlySerGluThrGlyPheArgAlaTrpAsnValGlnSerArgGlyArgIlePheLeuValSerLysProValLeuGlnGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysLeuSerLysProValSerProArgGluGlyLysLysLysTrpProGluLeuTyrHisIleLeuLysThrMetHisCysSerCysLeuProCysTyrLysIleMetValIleThrAsnProAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063909" }, { "coordinates": [ { "allele": "A", "end": 123, "referenceAllele": "T", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "XM_005263679.1:c.80T>A" ], "proteinEffect": { "hgvs": "XP_005263736.1:p.Leu27Ter", "hgvsWellDefined": "XP_005263736.1:p.Leu28_Val676delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063910" }, { "coordinates": [ { "allele": "A", "end": 123, "referenceAllele": "T", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "XM_006712551.1:c.80T>A" ], "proteinEffect": { "hgvs": "XP_006712614.1:p.Leu27Ter", "hgvsWellDefined": "XP_006712614.1:p.Leu28_Val768delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluAlaGlyIlePheCysLeuValAsnHisValSerPheCysTyrLeuIleValLeuMetArgAsnArgMetGluThrValGluAspThrAsnGlySerGluThrGlyPheArgAlaTrpAsnValGlnSerArgGlyArgIlePheLeuValSerLysProValLeuGlnGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysLeuSerLysProValSerProArgGluGlyLysLysLysTrpProGluLeuTyrHisIleLeuLysThrMetHisCysSerCysLeuProCysTyrLysIleMetArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069705" }, { "coordinates": [ { "allele": "A", "end": 123, "referenceAllele": "T", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "XM_006712552.2:c.80T>A" ], "proteinEffect": { "hgvs": "XP_006712615.1:p.Leu27Ter", "hgvsWellDefined": "XP_006712615.1:p.Leu28_His465delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluAlaGlyIlePheCysLeuValAsnHisValSerPheCysTyrLeuIleValLeuMetArgAsnArgMetGluThrValGluAspThrAsnGlySerGluThrGlyPheArgAlaTrpAsnValGlnSerArgGlyArgIlePheLeuValSerLysProValLeuGlnGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnIleLysSerGlyMetThrProGluGlyLeuLeuHisTyrThrHisThrLeuSerArgLeuGluTrpHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069706" }, { "coordinates": [ { "allele": "A", "end": 123, "referenceAllele": "T", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "XM_011511244.1:c.80T>A" ], "proteinEffect": { "hgvs": "XP_011509546.1:p.Leu27Ter", "hgvsWellDefined": "XP_011509546.1:p.Leu28_Arg715delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluAlaGlyIlePheCysLeuValAsnHisValSerPheCysTyrLeuIleValLeuMetArgAsnArgMetGluThrValGluAspThrAsnGlySerGluThrGlyPheArgAlaTrpAsnValGlnSerArgGlyArgIlePheLeuValSerLysProValLeuGlnGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysLeuSerLysProValSerProArgGluGlyLysLysLysTrpProGluLeuTyrHisIleLeuLysThrMetHisCysSerCysLeuProCysTyrLysIleMetGlyLeuThrSerSerSerProLysAspProSerThrSerIleProGlyIleAlaGlyAsnLysProThrThrLeuAspProMetGlnAsnThrCysTyrAsnTyrLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078505" }, { "coordinates": [ { "allele": "A", "end": 123, "referenceAllele": "T", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "XM_017004218.1:c.80T>A" ], "proteinEffect": { "hgvs": "XP_016859707.1:p.Leu27Ter", "hgvsWellDefined": "XP_016859707.1:p.Leu28_Leu630delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysLeuSerLysProValSerProArgGluGlyLysLysLysTrpProGluLeuTyrHisIleLeuLysThrMetHisCysSerCysLeuProCysTyrLysIleMetValIleThrAsnProAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559774" }, { "@id": "http://reg.genome.network/allele/PA116309", "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "T", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "NM_000272.4:c.80T>A" ], "proteinEffect": { "hgvs": "NP_000263.2:p.Leu27Ter", "hgvsWellDefined": "NP_000263.2:p.Leu28_Val733delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluAlaGlyIlePheCysLeuValAsnHisValSerPheCysTyrLeuIleValLeuMetArgAsnArgMetGluThrValGluAspThrAsnGlySerGluThrGlyPheArgAlaTrpAsnValGlnSerArgGlyArgIlePheLeuValSerLysProValLeuGlnGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674771" }, { "@id": "http://reg.genome.network/allele/PA2825665190", "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "T", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "NM_001128178.3:c.80T>A" ], "proteinEffect": { "hgvs": "NP_001121650.1:p.Leu27Ter", "hgvsWellDefined": "NP_001121650.1:p.Leu28_Val677delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676967", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000445609.7:c.80T>A" }, "RefSeq": { "hgvs": "NM_001128178.3:c.80T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389879.3:p.Leu27Ter" }, "RefSeq": { "hgvs": "NP_001121650.1:p.Leu27Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825665657", "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "T", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "NM_001128179.2:c.80T>A" ], "proteinEffect": { "hgvs": "NP_001121651.1:p.Leu27Ter", "hgvsWellDefined": "NP_001121651.1:p.Leu28_Val614delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676968" }, { "@id": "http://reg.genome.network/allele/PA2828479397", "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "T", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "NM_001374256.1:c.80T>A" ], "proteinEffect": { "hgvs": "NP_001361185.1:p.Leu27Ter", "hgvsWellDefined": "NP_001361185.1:p.Leu28_Val676delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693188" }, { "@id": "http://reg.genome.network/allele/PA2828480352", "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "T", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "NM_001374257.1:c.80T>A" ], "proteinEffect": { "hgvs": "NP_001361186.1:p.Leu27Ter", "hgvsWellDefined": "NP_001361186.1:p.Leu28_Leu630delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysLeuSerLysProValSerProArgGluGlyLysLysLysTrpProGluLeuTyrHisIleLeuLysThrMetHisCysSerCysLeuProCysTyrLysIleMetValIleThrAsnProAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693189" }, { "@id": "http://reg.genome.network/allele/PA916074027", "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "T", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "NM_207181.3:c.80T>A" ], "proteinEffect": { "hgvs": "NP_997064.2:p.Leu27Ter", "hgvsWellDefined": "NP_997064.2:p.Leu28_Val732delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluAlaGlyIlePheCysLeuValAsnHisValSerPheCysTyrLeuIleValLeuMetArgAsnArgMetGluThrValGluAspThrAsnGlySerGluThrGlyPheArgAlaTrpAsnValGlnSerArgGlyArgIlePheLeuValSerLysProValLeuGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701742" }, { "@id": "http://reg.genome.network/allele/PA116309", "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "T", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "NM_000272.5:c.80T>A" ], "proteinEffect": { "hgvs": "NP_000263.2:p.Leu27Ter", "hgvsWellDefined": "NP_000263.2:p.Leu28_Val733delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluAlaGlyIlePheCysLeuValAsnHisValSerPheCysTyrLeuIleValLeuMetArgAsnArgMetGluThrValGluAspThrAsnGlySerGluThrGlyPheArgAlaTrpAsnValGlnSerArgGlyArgIlePheLeuValSerLysProValLeuGlnGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710819" }, { "@id": "http://reg.genome.network/allele/PA2825665657", "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "T", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "NM_001128179.3:c.80T>A" ], "proteinEffect": { "hgvs": "NP_001121651.1:p.Leu27Ter", "hgvsWellDefined": "NP_001121651.1:p.Leu28_Val614delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712246" }, { "@id": "http://reg.genome.network/allele/PA916074027", "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "T", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN007905", "geneNCBI_id": 4867, "geneSymbol": "NPHP1", "hgvs": [ "NM_207181.4:c.80T>A" ], "proteinEffect": { "hgvs": "NP_997064.2:p.Leu27Ter", "hgvsWellDefined": "NP_997064.2:p.Leu28_Val732delinsSerGluSerGlnLeuLysGluAlaLeuGluProAsnLysArgGlnHisIleTyrGlnArgCysIleGlnLeuLysGlnAlaIleAspGluAsnLysAsnAlaLeuGlnLysLeuSerLysAlaAspGluSerAlaProValAlaAsnTyrAsnGlnArgLysGluGluGluHisThrLeuLeuAspLysLeuThrGlnGlnLeuGlnGlyLeuAlaValThrIleSerArgGluAsnIleThrGluValGlyAlaProThrGluGluGluGluGluSerGluSerGluAspSerGluAspSerGlyGlyGluGluGluAspAlaGluGluGluGluGluGluLysGluGluAsnGluSerHisLysTrpSerThrGlyGluGluTyrIleAlaValGlyAspPheThrAlaGlnGlnValGlyAspLeuThrPheLysLysGlyGluIleLeuLeuValIleGluLysLysProAspGlyTrpTrpIleAlaLysAspAlaLysGlyAsnGluGlyLeuValProArgThrTyrLeuGluProTyrSerGluGluGluGluGlyGlnGluSerSerGluGluGlySerGluGluAspValGluAlaValAspGluThrAlaAspGlyAlaGluValLysGlnArgThrAspProHisTrpSerAlaValGlnLysAlaIleSerGluAlaGlyIlePheCysLeuValAsnHisValSerPheCysTyrLeuIleValLeuMetArgAsnArgMetGluThrValGluAspThrAsnGlySerGluThrGlyPheArgAlaTrpAsnValGlnSerArgGlyArgIlePheLeuValSerLysProValLeuGlnIleAsnThrValAspValLeuThrThrMetGlyAlaIleProAlaGlyPheArgProSerThrLeuSerGlnLeuLeuGluGluGlyAsnGlnPheArgAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS730119" } ], "type": "nucleotide" }