{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA116188", "communityStandardTitle": [ "NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18443[alleleid]", "alleleId": 18443, "preferredName": "NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3404", "RCV": [ "RCV000003573", "RCV000234814" ], "variationId": 3404 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.5947496G>A?assembly=hg19", "id": "chr1:g.5947496G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.5887436G>A?assembly=hg38", "id": "chr1:g.5887436G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137852922", "rs": 137852922 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-5947496-G-A?dataset=gnomad_r2_1", "id": "1-5947496-G-A", "variant": "1:5947496 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-5887436-G-A?dataset=gnomad_r4", "id": "1-5887436-G-A", "variant": "1:5887436 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 5887436, "referenceAllele": "G", "start": 5887435 } ], "hgvs": [ "NC_000001.11:g.5887436G>A", "CM000663.2:g.5887436G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 5947496, "referenceAllele": "G", "start": 5947495 } ], "hgvs": [ "NC_000001.10:g.5947496G>A", "CM000663.1:g.5947496G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 5870083, "referenceAllele": "G", "start": 5870082 } ], "hgvs": [ "NC_000001.9:g.5870083G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 110036, "referenceAllele": "C", "start": 110035 } ], "hgvs": [ "NG_011724.2:g.110036C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001929" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2555, "referenceAllele": "C", "start": 2554 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000378156.9:c.2335C>T" ], "proteinEffect": { "hgvs": "ENSP00000367398.4:p.Gln779Ter", "hgvsWellDefined": "ENSP00000367398.4:p.Gln779_Gln1426delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752036", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378156.9:c.2335C>T" }, "RefSeq": { "hgvs": "NM_015102.5:c.2335C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367398.4:p.Gln779Ter" }, "RefSeq": { "hgvs": "NP_055917.1:p.Gln779Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2601, "referenceAllele": "C", "start": 2600 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000378156.8:c.2335C>T" ], "proteinEffect": { "hgvs": "ENSP00000367398.4:p.Gln779Ter", "hgvsWellDefined": "ENSP00000367398.4:p.Gln779_Gln1426delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271910" }, { "coordinates": [ { "allele": "T", "end": 2267, "referenceAllele": "C", "start": 2266 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000378169.7:c.*1236C>T" ], "proteinEffect": { "hgvs": "ENSP00000367411.3:n.*1236C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS271918" }, { "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000466897.1:c.564C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS310146" }, { "coordinates": [ { "allele": "T", "end": 2067, "referenceAllele": "C", "start": 2066 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000478423.6:n.2067C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319035" }, { "coordinates": [ { "allele": "T", "end": 2600, "referenceAllele": "C", "start": 2599 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000489180.6:c.2332C>T" ], "proteinEffect": { "hgvs": "ENSP00000423747.1:p.Gln778Ter", "hgvsWellDefined": "ENSP00000423747.1:p.Gln778_Asp911delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgTrpAlaLeuGlnAlaThrValLeuPheGlyGluValGlyThrLeuProValAlaPheValSerGlyTrpLeuLeuIleCysLysGlyArgArgAsnGlyGluLysValArgArgAsnIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS327298" }, { "coordinates": [ { "allele": "T", "end": 2600, "referenceAllele": "C", "start": 2599 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000622020.4:c.2332C>T" ], "proteinEffect": { "hgvs": "ENSP00000481831.2:p.Gln778Ter", "hgvsWellDefined": "ENSP00000481831.2:p.Gln778_Asp911delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgTrpAlaLeuGlnAlaThrValLeuPheGlyGluValGlyThrLeuProValAlaPheValSerGlyTrpLeuLeuIleCysLysGlyArgArgAsnGlyGluLysValArgArgAsnIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405527" }, { "@id": "http://reg.genome.network/allele/PA2826800315", "coordinates": [ { "allele": "T", "end": 2293, "referenceAllele": "C", "start": 2292 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_001291593.1:c.796C>T" ], "proteinEffect": { "hgvs": "NP_001278522.1:p.Gln266Ter", "hgvsWellDefined": "NP_001278522.1:p.Gln266_Gln913delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024270" }, { "@id": "http://reg.genome.network/allele/PA2826801087", "coordinates": [ { "allele": "T", "end": 2116, "referenceAllele": "C", "start": 2115 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_001291594.1:c.799C>T" ], "proteinEffect": { "hgvs": "NP_001278523.1:p.Gln267Ter", "hgvsWellDefined": "NP_001278523.1:p.Gln267_Gln914delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024271" }, { "@id": "http://reg.genome.network/allele/PA116189", "coordinates": [ { "allele": "T", "end": 2603, "referenceAllele": "C", "start": 2602 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_015102.4:c.2335C>T" ], "proteinEffect": { "hgvs": "NP_055917.1:p.Gln779Ter", "hgvsWellDefined": "NP_055917.1:p.Gln779_Gln1426delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033743" }, { "coordinates": [ { "allele": "T", "end": 2600, "referenceAllele": "C", "start": 2599 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NR_111987.1:n.2600C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055173" }, { "coordinates": [ { "allele": "T", "end": 2622, "referenceAllele": "C", "start": 2621 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_006710563.2:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_006710626.1:p.Gln779Ter", "hgvsWellDefined": "XP_006710626.1:p.Gln779_Gln1426delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068685" }, { "coordinates": [ { "allele": "T", "end": 2832, "referenceAllele": "C", "start": 2831 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_006710565.2:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_006710628.1:p.Gln779Ter", "hgvsWellDefined": "XP_006710628.1:p.Gln779_Gln1426delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068686" }, { "coordinates": [ { "allele": "T", "end": 2370, "referenceAllele": "C", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541213.1:c.2332C>T" ], "proteinEffect": { "hgvs": "XP_011539515.1:p.Gln778Ter", "hgvsWellDefined": "XP_011539515.1:p.Gln778_Gln1425delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108156" }, { "coordinates": [ { "allele": "T", "end": 2373, "referenceAllele": "C", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541214.1:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_011539516.1:p.Gln779Ter", "hgvsWellDefined": "XP_011539516.1:p.Gln779_Gln1412delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108157" }, { "coordinates": [ { "allele": "T", "end": 2262, "referenceAllele": "C", "start": 2261 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541215.1:c.2224C>T" ], "proteinEffect": { "hgvs": "XP_011539517.1:p.Gln742Ter", "hgvsWellDefined": "XP_011539517.1:p.Gln742_Gln1389delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108158" }, { "coordinates": [ { "allele": "T", "end": 3070, "referenceAllele": "C", "start": 3069 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541216.1:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_011539518.1:p.Gln779Ter", "hgvsWellDefined": "XP_011539518.1:p.Gln779_Gln1426delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108159" }, { "coordinates": [ { "allele": "T", "end": 2934, "referenceAllele": "C", "start": 2933 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541217.1:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_011539519.1:p.Gln779Ter", "hgvsWellDefined": "XP_011539519.1:p.Gln779_Gln1426delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108160" }, { "coordinates": [ { "allele": "T", "end": 2600, "referenceAllele": "C", "start": 2599 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541218.1:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_011539520.1:p.Gln779Ter", "hgvsWellDefined": "XP_011539520.1:p.Gln779_Gln1426delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108161" }, { "coordinates": [ { "allele": "T", "end": 2775, "referenceAllele": "C", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541219.1:c.2281C>T" ], "proteinEffect": { "hgvs": "XP_011539521.1:p.Gln761Ter", "hgvsWellDefined": "XP_011539521.1:p.Gln761_Gln1408delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108162" }, { "coordinates": [ { "allele": "T", "end": 2373, "referenceAllele": "C", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541220.1:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_011539522.1:p.Gln779Ter", "hgvsWellDefined": "XP_011539522.1:p.Gln779_Ala1235delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerGlnThrProLysValSerSerCysCysArgLeuValGlyCysArgThrCysMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108163" }, { "coordinates": [ { "allele": "T", "end": 2373, "referenceAllele": "C", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XR_946604.1:n.2373C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140188" }, { "coordinates": [ { "allele": "T", "end": 2212, "referenceAllele": "C", "start": 2211 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XR_946605.1:n.2212C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140189" }, { "coordinates": [ { "allele": "T", "end": 2449, "referenceAllele": "C", "start": 2448 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_006710563.3:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_006710626.1:p.Gln779Ter", "hgvsWellDefined": "XP_006710626.1:p.Gln779_Gln1426delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537815" }, { "coordinates": [ { "allele": "T", "end": 3077, "referenceAllele": "C", "start": 3076 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541216.2:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_011539518.1:p.Gln779Ter", "hgvsWellDefined": "XP_011539518.1:p.Gln779_Gln1426delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554351" }, { "coordinates": [ { "allele": "T", "end": 2941, "referenceAllele": "C", "start": 2940 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541217.2:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_011539519.1:p.Gln779Ter", "hgvsWellDefined": "XP_011539519.1:p.Gln779_Gln1426delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554352" }, { "coordinates": [ { "allele": "T", "end": 2610, "referenceAllele": "C", "start": 2609 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541218.2:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_011539520.1:p.Gln779Ter", "hgvsWellDefined": "XP_011539520.1:p.Gln779_Gln1426delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554353" }, { "coordinates": [ { "allele": "T", "end": 2370, "referenceAllele": "C", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017000996.1:c.2332C>T" ], "proteinEffect": { "hgvs": "XP_016856485.1:p.Gln778Ter", "hgvsWellDefined": "XP_016856485.1:p.Gln778_Gln1411delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557257" }, { "coordinates": [ { "allele": "T", "end": 2872, "referenceAllele": "C", "start": 2871 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017000997.1:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_016856486.1:p.Gln779Ter", "hgvsWellDefined": "XP_016856486.1:p.Gln779_Gln1426delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557258" }, { "coordinates": [ { "allele": "T", "end": 2373, "referenceAllele": "C", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017000998.1:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_016856487.1:p.Gln779Ter", "hgvsWellDefined": "XP_016856487.1:p.Gln779_Ser1216delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557259" }, { "coordinates": [ { "allele": "T", "end": 2368, "referenceAllele": "C", "start": 2367 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017000999.1:c.1807C>T" ], "proteinEffect": { "hgvs": "XP_016856488.1:p.Gln603Ter", "hgvsWellDefined": "XP_016856488.1:p.Gln603_Gln1250delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557260" }, { "coordinates": [ { "allele": "T", "end": 2196, "referenceAllele": "C", "start": 2195 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017001000.2:c.1807C>T" ], "proteinEffect": { "hgvs": "XP_016856489.1:p.Gln603Ter", "hgvsWellDefined": "XP_016856489.1:p.Gln603_Gln1250delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557261" }, { "coordinates": [ { "allele": "T", "end": 1640, "referenceAllele": "C", "start": 1639 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017001001.1:c.1537C>T" ], "proteinEffect": { "hgvs": "XP_016856490.1:p.Gln513Ter", "hgvsWellDefined": "XP_016856490.1:p.Gln513_Gln1160delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557262" }, { "coordinates": [ { "allele": "T", "end": 2373, "referenceAllele": "C", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017001002.1:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_016856491.1:p.Gln779Ter", "hgvsWellDefined": "XP_016856491.1:p.Gln779_Leu939delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557263" }, { "coordinates": [ { "allele": "T", "end": 1431, "referenceAllele": "C", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017001003.1:c.796C>T" ], "proteinEffect": { "hgvs": "XP_016856492.1:p.Gln266Ter", "hgvsWellDefined": "XP_016856492.1:p.Gln266_Gln913delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557264" }, { "coordinates": [ { "allele": "T", "end": 2373, "referenceAllele": "C", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XR_001737114.1:n.2373C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587932" }, { "coordinates": [ { "allele": "T", "end": 2373, "referenceAllele": "C", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XR_001737115.1:n.2373C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587933" }, { "@id": "http://reg.genome.network/allele/PA116189", "coordinates": [ { "allele": "T", "end": 2555, "referenceAllele": "C", "start": 2554 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_015102.5:c.2335C>T" ], "proteinEffect": { "hgvs": "NP_055917.1:p.Gln779Ter", "hgvsWellDefined": "NP_055917.1:p.Gln779_Gln1426delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668638", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378156.9:c.2335C>T" }, "RefSeq": { "hgvs": "NM_015102.5:c.2335C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367398.4:p.Gln779Ter" }, "RefSeq": { "hgvs": "NP_055917.1:p.Gln779Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826800315", "coordinates": [ { "allele": "T", "end": 2245, "referenceAllele": "C", "start": 2244 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_001291593.2:c.796C>T" ], "proteinEffect": { "hgvs": "NP_001278522.1:p.Gln266Ter", "hgvsWellDefined": "NP_001278522.1:p.Gln266_Gln913delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682839" }, { "@id": "http://reg.genome.network/allele/PA2826801087", "coordinates": [ { "allele": "T", "end": 2068, "referenceAllele": "C", "start": 2067 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_001291594.2:c.799C>T" ], "proteinEffect": { "hgvs": "NP_001278523.1:p.Gln267Ter", "hgvsWellDefined": "NP_001278523.1:p.Gln267_Gln914delinsAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682840" }, { "coordinates": [ { "allele": "T", "end": 2552, "referenceAllele": "C", "start": 2551 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NR_111987.2:n.2552C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS703187" } ], "type": "nucleotide" }