{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA17124406", "communityStandardTitle": [ "NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=489858[alleleid]", "alleleId": 489858, "preferredName": "NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/498434", "RCV": [ "RCV000594142", "RCV001381479", "RCV002497256", "RCV004530676" ], "variationId": 498434 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.5964809G>A?assembly=hg19", "id": "chr1:g.5964809G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.5904749G>A?assembly=hg38", "id": "chr1:g.5904749G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1025515771", "rs": 1025515771 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-5904749-G-A?dataset=gnomad_r3", "id": "1-5904749-G-A", "variant": "1:5904749 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-5904749-G-A?dataset=gnomad_r4", "id": "1-5904749-G-A", "variant": "1:5904749 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 5904749, "referenceAllele": "G", "start": 5904748 } ], "hgvs": [ "NC_000001.11:g.5904749G>A", "CM000663.2:g.5904749G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 5964809, "referenceAllele": "G", "start": 5964808 } ], "hgvs": [ "NC_000001.10:g.5964809G>A", "CM000663.1:g.5964809G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 5887396, "referenceAllele": "G", "start": 5887395 } ], "hgvs": [ "NC_000001.9:g.5887396G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 92723, "referenceAllele": "C", "start": 92722 } ], "hgvs": [ "NG_011724.2:g.92723C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001929" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2231, "referenceAllele": "C", "start": 2230 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000378156.9:c.2011C>T" ], "proteinEffect": { "hgvs": "ENSP00000367398.4:p.Gln671Ter", "hgvsWellDefined": "ENSP00000367398.4:p.Gln671_Gln1426delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752036", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378156.9:c.2011C>T" }, "RefSeq": { "hgvs": "NM_015102.5:c.2011C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367398.4:p.Gln671Ter" }, "RefSeq": { "hgvs": "NP_055917.1:p.Gln671Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2277, "referenceAllele": "C", "start": 2276 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000378156.8:c.2011C>T" ], "proteinEffect": { "hgvs": "ENSP00000367398.4:p.Gln671Ter", "hgvsWellDefined": "ENSP00000367398.4:p.Gln671_Gln1426delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271910" }, { "coordinates": [ { "allele": "T", "end": 1943, "referenceAllele": "C", "start": 1942 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000378169.7:c.*912C>T" ], "proteinEffect": { "hgvs": "ENSP00000367411.3:n.*912C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS271918" }, { "coordinates": [ { "allele": "T", "end": 89, "referenceAllele": "C", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000466897.1:c.89C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS310146" }, { "coordinates": [ { "allele": "T", "end": 1743, "referenceAllele": "C", "start": 1742 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000478423.6:n.1743C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319035" }, { "coordinates": [ { "allele": "T", "end": 2276, "referenceAllele": "C", "start": 2275 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000489180.6:c.2008C>T" ], "proteinEffect": { "hgvs": "ENSP00000423747.1:p.Gln670Ter", "hgvsWellDefined": "ENSP00000423747.1:p.Gln670_Asp911delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgTrpAlaLeuGlnAlaThrValLeuPheGlyGluValGlyThrLeuProValAlaPheValSerGlyTrpLeuLeuIleCysLysGlyArgArgAsnGlyGluLysValArgArgAsnIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS327298" }, { "coordinates": [ { "allele": "T", "end": 2276, "referenceAllele": "C", "start": 2275 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "ENST00000622020.4:c.2008C>T" ], "proteinEffect": { "hgvs": "ENSP00000481831.2:p.Gln670Ter", "hgvsWellDefined": "ENSP00000481831.2:p.Gln670_Asp911delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgTrpAlaLeuGlnAlaThrValLeuPheGlyGluValGlyThrLeuProValAlaPheValSerGlyTrpLeuLeuIleCysLysGlyArgArgAsnGlyGluLysValArgArgAsnIleAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405527" }, { "@id": "http://reg.genome.network/allele/PA2826800213", "coordinates": [ { "allele": "T", "end": 1969, "referenceAllele": "C", "start": 1968 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_001291593.1:c.472C>T" ], "proteinEffect": { "hgvs": "NP_001278522.1:p.Gln158Ter", "hgvsWellDefined": "NP_001278522.1:p.Gln158_Gln913delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024270" }, { "@id": "http://reg.genome.network/allele/PA2826800986", "coordinates": [ { "allele": "T", "end": 1792, "referenceAllele": "C", "start": 1791 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_001291594.1:c.475C>T" ], "proteinEffect": { "hgvs": "NP_001278523.1:p.Gln159Ter", "hgvsWellDefined": "NP_001278523.1:p.Gln159_Gln914delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024271" }, { "@id": "http://reg.genome.network/allele/PA658810989", "coordinates": [ { "allele": "T", "end": 2279, "referenceAllele": "C", "start": 2278 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_015102.4:c.2011C>T" ], "proteinEffect": { "hgvs": "NP_055917.1:p.Gln671Ter", "hgvsWellDefined": "NP_055917.1:p.Gln671_Gln1426delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033743" }, { "coordinates": [ { "allele": "T", "end": 2276, "referenceAllele": "C", "start": 2275 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NR_111987.1:n.2276C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055173" }, { "coordinates": [ { "allele": "T", "end": 2298, "referenceAllele": "C", "start": 2297 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_006710563.2:c.2011C>T" ], "proteinEffect": { "hgvs": "XP_006710626.1:p.Gln671Ter", "hgvsWellDefined": "XP_006710626.1:p.Gln671_Gln1426delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068685" }, { "coordinates": [ { "allele": "T", "end": 2508, "referenceAllele": "C", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_006710565.2:c.2011C>T" ], "proteinEffect": { "hgvs": "XP_006710628.1:p.Gln671Ter", "hgvsWellDefined": "XP_006710628.1:p.Gln671_Gln1426delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS068686" }, { "coordinates": [ { "allele": "T", "end": 2046, "referenceAllele": "C", "start": 2045 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541213.1:c.2008C>T" ], "proteinEffect": { "hgvs": "XP_011539515.1:p.Gln670Ter", "hgvsWellDefined": "XP_011539515.1:p.Gln670_Gln1425delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108156" }, { "coordinates": [ { "allele": "T", "end": 2049, "referenceAllele": "C", "start": 2048 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541214.1:c.2011C>T" ], "proteinEffect": { "hgvs": "XP_011539516.1:p.Gln671Ter", "hgvsWellDefined": "XP_011539516.1:p.Gln671_Gln1412delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108157" }, { "coordinates": [ { "allele": "T", "end": 1938, "referenceAllele": "C", "start": 1937 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541215.1:c.1900C>T" ], "proteinEffect": { "hgvs": "XP_011539517.1:p.Gln634Ter", "hgvsWellDefined": "XP_011539517.1:p.Gln634_Gln1389delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108158" }, { "coordinates": [ { "allele": "T", "end": 2746, "referenceAllele": "C", "start": 2745 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541216.1:c.2011C>T" ], "proteinEffect": { "hgvs": "XP_011539518.1:p.Gln671Ter", "hgvsWellDefined": "XP_011539518.1:p.Gln671_Gln1426delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108159" }, { "coordinates": [ { "allele": "T", "end": 2610, "referenceAllele": "C", "start": 2609 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541217.1:c.2011C>T" ], "proteinEffect": { "hgvs": "XP_011539519.1:p.Gln671Ter", "hgvsWellDefined": "XP_011539519.1:p.Gln671_Gln1426delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108160" }, { "coordinates": [ { "allele": "T", "end": 2276, "referenceAllele": "C", "start": 2275 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541218.1:c.2011C>T" ], "proteinEffect": { "hgvs": "XP_011539520.1:p.Gln671Ter", "hgvsWellDefined": "XP_011539520.1:p.Gln671_Gln1426delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108161" }, { "coordinates": [ { "allele": "T", "end": 2451, "referenceAllele": "C", "start": 2450 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541219.1:c.1957C>T" ], "proteinEffect": { "hgvs": "XP_011539521.1:p.Gln653Ter", "hgvsWellDefined": "XP_011539521.1:p.Gln653_Gln1408delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108162" }, { "coordinates": [ { "allele": "T", "end": 2049, "referenceAllele": "C", "start": 2048 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541220.1:c.2011C>T" ], "proteinEffect": { "hgvs": "XP_011539522.1:p.Gln671Ter", "hgvsWellDefined": "XP_011539522.1:p.Gln671_Ala1235delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerGlnThrProLysValSerSerCysCysArgLeuValGlyCysArgThrCysMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108163" }, { "coordinates": [ { "allele": "T", "end": 2049, "referenceAllele": "C", "start": 2048 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XR_946604.1:n.2049C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140188" }, { "coordinates": [ { "allele": "T", "end": 2049, "referenceAllele": "C", "start": 2048 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XR_946605.1:n.2049C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140189" }, { "coordinates": [ { "allele": "T", "end": 2125, "referenceAllele": "C", "start": 2124 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_006710563.3:c.2011C>T" ], "proteinEffect": { "hgvs": "XP_006710626.1:p.Gln671Ter", "hgvsWellDefined": "XP_006710626.1:p.Gln671_Gln1426delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537815" }, { "coordinates": [ { "allele": "T", "end": 2753, "referenceAllele": "C", "start": 2752 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541216.2:c.2011C>T" ], "proteinEffect": { "hgvs": "XP_011539518.1:p.Gln671Ter", "hgvsWellDefined": "XP_011539518.1:p.Gln671_Gln1426delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554351" }, { "coordinates": [ { "allele": "T", "end": 2617, "referenceAllele": "C", "start": 2616 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541217.2:c.2011C>T" ], "proteinEffect": { "hgvs": "XP_011539519.1:p.Gln671Ter", "hgvsWellDefined": "XP_011539519.1:p.Gln671_Gln1426delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554352" }, { "coordinates": [ { "allele": "T", "end": 2286, "referenceAllele": "C", "start": 2285 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_011541218.2:c.2011C>T" ], "proteinEffect": { "hgvs": "XP_011539520.1:p.Gln671Ter", "hgvsWellDefined": "XP_011539520.1:p.Gln671_Gln1426delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554353" }, { "coordinates": [ { "allele": "T", "end": 2046, "referenceAllele": "C", "start": 2045 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017000996.1:c.2008C>T" ], "proteinEffect": { "hgvs": "XP_016856485.1:p.Gln670Ter", "hgvsWellDefined": "XP_016856485.1:p.Gln670_Gln1411delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557257" }, { "coordinates": [ { "allele": "T", "end": 2548, "referenceAllele": "C", "start": 2547 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017000997.1:c.2011C>T" ], "proteinEffect": { "hgvs": "XP_016856486.1:p.Gln671Ter", "hgvsWellDefined": "XP_016856486.1:p.Gln671_Gln1426delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557258" }, { "coordinates": [ { "allele": "T", "end": 2049, "referenceAllele": "C", "start": 2048 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017000998.1:c.2011C>T" ], "proteinEffect": { "hgvs": "XP_016856487.1:p.Gln671Ter", "hgvsWellDefined": "XP_016856487.1:p.Gln671_Ser1216delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557259" }, { "coordinates": [ { "allele": "T", "end": 2044, "referenceAllele": "C", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017000999.1:c.1483C>T" ], "proteinEffect": { "hgvs": "XP_016856488.1:p.Gln495Ter", "hgvsWellDefined": "XP_016856488.1:p.Gln495_Gln1250delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557260" }, { "coordinates": [ { "allele": "T", "end": 1872, "referenceAllele": "C", "start": 1871 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017001000.2:c.1483C>T" ], "proteinEffect": { "hgvs": "XP_016856489.1:p.Gln495Ter", "hgvsWellDefined": "XP_016856489.1:p.Gln495_Gln1250delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557261" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017001001.1:c.1213C>T" ], "proteinEffect": { "hgvs": "XP_016856490.1:p.Gln405Ter", "hgvsWellDefined": "XP_016856490.1:p.Gln405_Gln1160delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557262" }, { "coordinates": [ { "allele": "T", "end": 2049, "referenceAllele": "C", "start": 2048 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017001002.1:c.2011C>T" ], "proteinEffect": { "hgvs": "XP_016856491.1:p.Gln671Ter", "hgvsWellDefined": "XP_016856491.1:p.Gln671_Leu939delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557263" }, { "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "C", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XM_017001003.1:c.472C>T" ], "proteinEffect": { "hgvs": "XP_016856492.1:p.Gln158Ter", "hgvsWellDefined": "XP_016856492.1:p.Gln158_Gln913delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557264" }, { "coordinates": [ { "allele": "T", "end": 2049, "referenceAllele": "C", "start": 2048 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XR_001737114.1:n.2049C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587932" }, { "coordinates": [ { "allele": "T", "end": 2049, "referenceAllele": "C", "start": 2048 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "XR_001737115.1:n.2049C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587933" }, { "@id": "http://reg.genome.network/allele/PA658810989", "coordinates": [ { "allele": "T", "end": 2231, "referenceAllele": "C", "start": 2230 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_015102.5:c.2011C>T" ], "proteinEffect": { "hgvs": "NP_055917.1:p.Gln671Ter", "hgvsWellDefined": "NP_055917.1:p.Gln671_Gln1426delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668638", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378156.9:c.2011C>T" }, "RefSeq": { "hgvs": "NM_015102.5:c.2011C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367398.4:p.Gln671Ter" }, "RefSeq": { "hgvs": "NP_055917.1:p.Gln671Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826800213", "coordinates": [ { "allele": "T", "end": 1921, "referenceAllele": "C", "start": 1920 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_001291593.2:c.472C>T" ], "proteinEffect": { "hgvs": "NP_001278522.1:p.Gln158Ter", "hgvsWellDefined": "NP_001278522.1:p.Gln158_Gln913delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682839" }, { "@id": "http://reg.genome.network/allele/PA2826800986", "coordinates": [ { "allele": "T", "end": 1744, "referenceAllele": "C", "start": 1743 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NM_001291594.2:c.475C>T" ], "proteinEffect": { "hgvs": "NP_001278523.1:p.Gln159Ter", "hgvsWellDefined": "NP_001278523.1:p.Gln159_Gln914delinsPheTyrArgPheProProAlaThrThrProArgLeuGlnLeuValGlnLeuAspGluAlaGlyGlnProSerSerGlyAlaLeuThrHisIleLeuValProValSerArgAspGlyThrPheAspAlaGlySerProGlyPheGlnLeuArgTyrMetValGlyProGlyPheLeuLysProGlyGluArgArgCysPheAlaArgTyrLeuAlaValGlnThrLeuGlnIleAspValTrpAspGlyAspSerLeuLeuLeuIleGlySerAlaAlaValGlnMetLysHisLeuLeuArgGlnGlyArgProAlaValGlnAlaSerHisGluLeuGluValValAlaThrGluTyrGluGlnAspAsnMetValValSerGlyAspMetLeuGlyPheGlyArgValLysProIleGlyValHisSerValValLysGlyArgLeuHisLeuThrLeuAlaAsnValGlyHisProCysGluGlnLysValArgGlyCysSerThrLeuProProSerArgSerArgValIleSerAsnAspGlyAlaSerArgPheSerGlyGlySerLeuLeuThrThrGlySerSerArgArgLysHisValValGlnAlaGlnLysLeuAlaAspValAspSerGluLeuAlaAlaMetLeuLeuThrHisAlaArgGlnGlyLysGlyProGlnAspValSerArgGluSerAspAlaThrArgArgArgLysLeuGluArgMetArgSerValArgLeuGlnGluAlaGlyGlyAspLeuGlyArgArgGlyThrSerValLeuAlaGlnGlnSerValArgThrGlnHisLeuArgAspLeuGlnValIleAlaAlaTyrArgGluArgThrLysAlaGluSerIleAlaSerLeuLeuSerLeuAlaIleThrThrGluHisThrLeuHisAlaThrLeuGlyValAlaGluPhePheGluPheValLeuLysAsnProHisAsnThrGlnHisThrValThrValGluIleAspAsnProGluLeuSerValIleValAspSerGlnGluTrpArgAspPheLysGlyAlaAlaGlyLeuHisThrProValGluGluAspMetPheHisLeuArgGlySerLeuAlaProGlnLeuTyrLeuArgProHisGluThrAlaHisValProPheLysPheGlnSerPheSerAlaGlyGlnLeuAlaMetValGlnAlaSerProGlyLeuSerAsnGluLysGlyMetAspAlaValSerProTrpLysSerSerAlaValProThrLysHisAlaLysValLeuPheArgAlaSerGlyGlyLysProIleAlaValLeuCysLeuThrValGluLeuGlnProHisValValAspGlnValPheArgPheTyrHisProGluLeuSerPheLeuLysLysAlaIleArgLeuProProTrpHisThrPheProGlyAlaProValGlyMetLeuGlyGluAspProProValHisValArgCysSerAspProAsnValIleCysGluThrGlnAsnValGlyProGlyGluProArgAspIlePheLeuLysValAlaSerGlyProSerProGluIleLysAspPhePheValIleIleTyrSerAspArgTrpLeuAlaThrProThrGlnThrTrpGlnValTyrLeuHisSerLeuGlnArgValAspValSerCysValAlaGlyGlnLeuThrArgLeuSerLeuValLeuArgGlyThrGlnThrValArgLysValArgAlaPheThrSerHisProGlnGluLeuLysThrAspProLysGlyValPheValLeuProProArgGlyValGlnAspLeuHisValGlyValArgProLeuArgAlaGlySerArgPheValHisLeuAsnLeuValAspValAspCysHisGlnLeuValAlaSerTrpLeuValCysLeuCysCysArgGlnProLeuIleSerLysAlaPheGluIleMetLeuAlaAlaGlyGluGlyLysGlyValAsnLysArgIleThrTyrThrAsnProTyrProSerArgArgThrPheHisLeuHisSerAspHisProGluLeuLeuArgPheArgGluAspSerPheGlnValGlyGlyGlyGluThrTyrThrIleGlyLeuGlnPheAlaProSerGlnArgValGlyGluGluGluIleLeuIleTyrIleAsnAspHisGluAspLysAsnGluGluAlaPheCysValLysValIleTyrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682840" }, { "coordinates": [ { "allele": "T", "end": 2228, "referenceAllele": "C", "start": 2227 } ], "gene": "http://reg.genome.network/gene/GN019104", "geneNCBI_id": 261734, "geneSymbol": "NPHP4", "hgvs": [ "NR_111987.2:n.2228C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS703187" } ], "type": "nucleotide" }