{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA116181", "communityStandardTitle": [ "NM_015102.5(NPHP4):c.2368G>T (p.Glu790Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18438[alleleid]", "alleleId": 18438, "preferredName": "NM_015102.5(NPHP4):c.2368G>T (p.Glu790Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3399", "RCV": [ "RCV000003568" ], "variationId": 3399 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.5947463C>A?assembly=hg19", "id": "chr1:g.5947463C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.5887403C>A?assembly=hg38", "id": "chr1:g.5887403C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137852918", "rs": 137852918 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-5887403-C-A?dataset=gnomad_r4", "id": "1-5887403-C-A", "variant": "1:5887403 C / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 5887403, "referenceAllele": "C", "start": 5887402 } ], "hgvs": [ "NC_000001.11:g.5887403C>A", "CM000663.2:g.5887403C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 5947463, "referenceAllele": "C", "start": 5947462 } ], "hgvs": [ "NC_000001.10:g.5947463C>A", "CM000663.1:g.5947463C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 5870050, "referenceAllele": "C", "start": 5870049 } ], "hgvs": [ "NC_000001.9:g.5870050C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 110069, "referenceAllele": "G", "start": 110068 } ], "hgvs": [ "NG_011724.2:g.110069G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001929" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2588, "referenceAllele": "G", "start": 2587 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000378156.9:c.2368G>T" ], "proteinEffect": { "hgvs": "ENSP00000367398.4:p.Glu790Ter", "hgvsWellDefined": "ENSP00000367398.4:p.Glu790_Gln1426delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752036", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378156.9:c.2368G>T" }, "RefSeq": { "hgvs": "NM_015102.5:c.2368G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367398.4:p.Glu790Ter" }, "RefSeq": { "hgvs": "NP_055917.1:p.Glu790Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2634, "referenceAllele": "G", "start": 2633 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000378156.8:c.2368G>T" ], "proteinEffect": { "hgvs": "ENSP00000367398.4:p.Glu790Ter", "hgvsWellDefined": "ENSP00000367398.4:p.Glu790_Gln1426delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271910" }, { "coordinates": [ { "allele": "T", "end": 2300, "referenceAllele": "G", "start": 2299 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000378169.7:c.*1269G>T" ], "proteinEffect": { "hgvs": "ENSP00000367411.3:n.*1269G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS271918" }, { "coordinates": [ { "allele": "T", "end": 597, "referenceAllele": "G", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000466897.1:c.597G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS310146" }, { "coordinates": [ { "allele": "T", "end": 2100, "referenceAllele": "G", "start": 2099 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000478423.6:n.2100G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319035" }, { "coordinates": [ { "allele": "T", "end": 2633, "referenceAllele": "G", "start": 2632 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000489180.6:c.2365G>T" ], "proteinEffect": { "hgvs": "ENSP00000423747.1:p.Glu789Ter", "hgvsWellDefined": "ENSP00000423747.1:p.Glu789_Asp911delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgTrpAlaLeuGlnAlaThrValLeuPheGlyGluValGlyThrLeuProValAlaPheValSerGlyTrpLeuLeuIleCysLysGlyArgArgAsnGlyGluLysValArgArgAsnIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS327298" }, { "coordinates": [ { "allele": "T", "end": 2633, "referenceAllele": "G", "start": 2632 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000622020.4:c.2365G>T" ], "proteinEffect": { "hgvs": "ENSP00000481831.2:p.Glu789Ter", "hgvsWellDefined": "ENSP00000481831.2:p.Glu789_Asp911delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgTrpAlaLeuGlnAlaThrValLeuPheGlyGluValGlyThrLeuProValAlaPheValSerGlyTrpLeuLeuIleCysLysGlyArgArgAsnGlyGluLysValArgArgAsnIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405527" }, { "@id": "http://reg.genome.network/allele/PA2826800324", "coordinates": [ { "allele": "T", "end": 2326, "referenceAllele": "G", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_001291593.1:c.829G>T" ], "proteinEffect": { "hgvs": "NP_001278522.1:p.Glu277Ter", "hgvsWellDefined": "NP_001278522.1:p.Glu277_Gln913delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024270" }, { "@id": "http://reg.genome.network/allele/PA2826801096", "coordinates": [ { "allele": "T", "end": 2149, "referenceAllele": "G", "start": 2148 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_001291594.1:c.832G>T" ], "proteinEffect": { "hgvs": "NP_001278523.1:p.Glu278Ter", "hgvsWellDefined": "NP_001278523.1:p.Glu278_Gln914delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024271" }, { "@id": "http://reg.genome.network/allele/PA116182", "coordinates": [ { "allele": "T", "end": 2636, "referenceAllele": "G", "start": 2635 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_015102.4:c.2368G>T" ], "proteinEffect": { "hgvs": "NP_055917.1:p.Glu790Ter", "hgvsWellDefined": "NP_055917.1:p.Glu790_Gln1426delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033743" }, { "coordinates": [ { "allele": "T", "end": 2633, "referenceAllele": "G", "start": 2632 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NR_111987.1:n.2633G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055173" }, { "coordinates": [ { "allele": "T", "end": 2655, "referenceAllele": "G", "start": 2654 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_006710563.2:c.2368G>T" ], "proteinEffect": { "hgvs": "XP_006710626.1:p.Glu790Ter", "hgvsWellDefined": "XP_006710626.1:p.Glu790_Gln1426delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068685" }, { "coordinates": [ { "allele": "T", "end": 2865, "referenceAllele": "G", "start": 2864 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_006710565.2:c.2368G>T" ], "proteinEffect": { "hgvs": "XP_006710628.1:p.Glu790Ter", "hgvsWellDefined": "XP_006710628.1:p.Glu790_Gln1426delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068686" }, { "coordinates": [ { "allele": "T", "end": 2403, "referenceAllele": "G", "start": 2402 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541213.1:c.2365G>T" ], "proteinEffect": { "hgvs": "XP_011539515.1:p.Glu789Ter", "hgvsWellDefined": "XP_011539515.1:p.Glu789_Gln1425delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108156" }, { "coordinates": [ { "allele": "T", "end": 2406, "referenceAllele": "G", "start": 2405 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541214.1:c.2368G>T" ], "proteinEffect": { "hgvs": "XP_011539516.1:p.Glu790Ter", "hgvsWellDefined": "XP_011539516.1:p.Glu790_Gln1412delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108157" }, { "coordinates": [ { "allele": "T", "end": 2295, "referenceAllele": "G", "start": 2294 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541215.1:c.2257G>T" ], "proteinEffect": { "hgvs": "XP_011539517.1:p.Glu753Ter", "hgvsWellDefined": "XP_011539517.1:p.Glu753_Gln1389delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108158" }, { "coordinates": [ { "allele": "T", "end": 3103, "referenceAllele": "G", "start": 3102 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541216.1:c.2368G>T" ], "proteinEffect": { "hgvs": "XP_011539518.1:p.Glu790Ter", "hgvsWellDefined": "XP_011539518.1:p.Glu790_Gln1426delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108159" }, { "coordinates": [ { "allele": "T", "end": 2967, "referenceAllele": "G", "start": 2966 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541217.1:c.2368G>T" ], "proteinEffect": { "hgvs": "XP_011539519.1:p.Glu790Ter", "hgvsWellDefined": "XP_011539519.1:p.Glu790_Gln1426delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108160" }, { "coordinates": [ { "allele": "T", "end": 2633, "referenceAllele": "G", "start": 2632 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541218.1:c.2368G>T" ], "proteinEffect": { "hgvs": "XP_011539520.1:p.Glu790Ter", "hgvsWellDefined": "XP_011539520.1:p.Glu790_Gln1426delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108161" }, { "coordinates": [ { "allele": "T", "end": 2808, "referenceAllele": "G", "start": 2807 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541219.1:c.2314G>T" ], "proteinEffect": { "hgvs": "XP_011539521.1:p.Glu772Ter", "hgvsWellDefined": "XP_011539521.1:p.Glu772_Gln1408delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108162" }, { "coordinates": [ { "allele": "T", "end": 2406, "referenceAllele": "G", "start": 2405 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541220.1:c.2368G>T" ], "proteinEffect": { "hgvs": "XP_011539522.1:p.Glu790Ter", "hgvsWellDefined": "XP_011539522.1:p.Glu790_Ala1235delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerGlnThrProLysValSerSerCysCysArgLeuValGlyCysArgThrCysMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108163" }, { "coordinates": [ { "allele": "T", "end": 2406, "referenceAllele": "G", "start": 2405 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XR_946604.1:n.2406G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140188" }, { "coordinates": [ { "allele": "T", "end": 2245, "referenceAllele": "G", "start": 2244 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XR_946605.1:n.2245G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140189" }, { "coordinates": [ { "allele": "T", "end": 2482, "referenceAllele": "G", "start": 2481 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_006710563.3:c.2368G>T" ], "proteinEffect": { "hgvs": "XP_006710626.1:p.Glu790Ter", "hgvsWellDefined": "XP_006710626.1:p.Glu790_Gln1426delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537815" }, { "coordinates": [ { "allele": "T", "end": 3110, "referenceAllele": "G", "start": 3109 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541216.2:c.2368G>T" ], "proteinEffect": { "hgvs": "XP_011539518.1:p.Glu790Ter", "hgvsWellDefined": "XP_011539518.1:p.Glu790_Gln1426delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554351" }, { "coordinates": [ { "allele": "T", "end": 2974, "referenceAllele": "G", "start": 2973 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541217.2:c.2368G>T" ], "proteinEffect": { "hgvs": "XP_011539519.1:p.Glu790Ter", "hgvsWellDefined": "XP_011539519.1:p.Glu790_Gln1426delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554352" }, { "coordinates": [ { "allele": "T", "end": 2643, "referenceAllele": "G", "start": 2642 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541218.2:c.2368G>T" ], "proteinEffect": { "hgvs": "XP_011539520.1:p.Glu790Ter", "hgvsWellDefined": "XP_011539520.1:p.Glu790_Gln1426delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554353" }, { "coordinates": [ { "allele": "T", "end": 2403, "referenceAllele": "G", "start": 2402 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017000996.1:c.2365G>T" ], "proteinEffect": { "hgvs": "XP_016856485.1:p.Glu789Ter", "hgvsWellDefined": "XP_016856485.1:p.Glu789_Gln1411delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557257" }, { "coordinates": [ { "allele": "T", "end": 2905, "referenceAllele": "G", "start": 2904 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017000997.1:c.2368G>T" ], "proteinEffect": { "hgvs": "XP_016856486.1:p.Glu790Ter", "hgvsWellDefined": "XP_016856486.1:p.Glu790_Gln1426delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557258" }, { "coordinates": [ { "allele": "T", "end": 2406, "referenceAllele": "G", "start": 2405 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017000998.1:c.2368G>T" ], "proteinEffect": { "hgvs": "XP_016856487.1:p.Glu790Ter", "hgvsWellDefined": "XP_016856487.1:p.Glu790_Ser1216delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557259" }, { "coordinates": [ { "allele": "T", "end": 2401, "referenceAllele": "G", "start": 2400 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017000999.1:c.1840G>T" ], "proteinEffect": { "hgvs": "XP_016856488.1:p.Glu614Ter", "hgvsWellDefined": "XP_016856488.1:p.Glu614_Gln1250delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557260" }, { "coordinates": [ { "allele": "T", "end": 2229, "referenceAllele": "G", "start": 2228 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017001000.2:c.1840G>T" ], "proteinEffect": { "hgvs": "XP_016856489.1:p.Glu614Ter", "hgvsWellDefined": "XP_016856489.1:p.Glu614_Gln1250delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557261" }, { "coordinates": [ { "allele": "T", "end": 1673, "referenceAllele": "G", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017001001.1:c.1570G>T" ], "proteinEffect": { "hgvs": "XP_016856490.1:p.Glu524Ter", "hgvsWellDefined": "XP_016856490.1:p.Glu524_Gln1160delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557262" }, { "coordinates": [ { "allele": "T", "end": 2406, "referenceAllele": "G", "start": 2405 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017001002.1:c.2368G>T" ], "proteinEffect": { "hgvs": "XP_016856491.1:p.Glu790Ter", "hgvsWellDefined": "XP_016856491.1:p.Glu790_Leu939delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557263" }, { "coordinates": [ { "allele": "T", "end": 1464, "referenceAllele": "G", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017001003.1:c.829G>T" ], "proteinEffect": { "hgvs": "XP_016856492.1:p.Glu277Ter", "hgvsWellDefined": "XP_016856492.1:p.Glu277_Gln913delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557264" }, { "coordinates": [ { "allele": "T", "end": 2406, "referenceAllele": "G", "start": 2405 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XR_001737114.1:n.2406G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587932" }, { "coordinates": [ { "allele": "T", "end": 2406, "referenceAllele": "G", "start": 2405 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XR_001737115.1:n.2406G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587933" }, { "@id": "http://reg.genome.network/allele/PA116182", "coordinates": [ { "allele": "T", "end": 2588, "referenceAllele": "G", "start": 2587 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_015102.5:c.2368G>T" ], "proteinEffect": { "hgvs": "NP_055917.1:p.Glu790Ter", "hgvsWellDefined": "NP_055917.1:p.Glu790_Gln1426delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668638", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378156.9:c.2368G>T" }, "RefSeq": { "hgvs": "NM_015102.5:c.2368G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367398.4:p.Glu790Ter" }, "RefSeq": { "hgvs": "NP_055917.1:p.Glu790Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826800324", "coordinates": [ { "allele": "T", "end": 2278, "referenceAllele": "G", "start": 2277 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_001291593.2:c.829G>T" ], "proteinEffect": { "hgvs": "NP_001278522.1:p.Glu277Ter", "hgvsWellDefined": "NP_001278522.1:p.Glu277_Gln913delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682839" }, { "@id": "http://reg.genome.network/allele/PA2826801096", "coordinates": [ { "allele": "T", "end": 2101, "referenceAllele": "G", "start": 2100 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_001291594.2:c.832G>T" ], "proteinEffect": { "hgvs": "NP_001278523.1:p.Glu278Ter", "hgvsWellDefined": "NP_001278523.1:p.Glu278_Gln914delinsTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682840" }, { "coordinates": [ { "allele": "T", "end": 2585, "referenceAllele": "G", "start": 2584 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NR_111987.2:n.2585G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS703187" } ], "type": "nucleotide" }