{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA259907", "communityStandardTitle": [ "NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39763[alleleid]", "alleleId": 39763, "preferredName": "NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30806", "RCV": [ "RCV000023791", "RCV001075501", "RCV000778417", "RCV002251427", "RCV002260600" ], "variationId": 30806 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-88883069-C-T", "id": "14-88883069-C-T", "variant": "14:88883069 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.88883069C>T?assembly=hg19", "id": "chr14:g.88883069C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.88416725C>T?assembly=hg38", "id": "chr14:g.88416725C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/140287375", "rs": 140287375 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-88883069-C-T?dataset=gnomad_r2_1", "id": "14-88883069-C-T", "variant": "14:88883069 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-88416725-C-T?dataset=gnomad_r3", "id": "14-88416725-C-T", "variant": "14:88416725 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-88416725-C-T?dataset=gnomad_r4", "id": "14-88416725-C-T", "variant": "14:88416725 C / T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 88416725, "referenceAllele": "C", "start": 88416724 } ], "hgvs": [ "NC_000014.9:g.88416725C>T", "CM000676.2:g.88416725C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 88883069, "referenceAllele": "C", "start": 88883068 } ], "hgvs": [ "NC_000014.8:g.88883069C>T", "CM000676.1:g.88883069C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 87952822, "referenceAllele": "C", "start": 87952821 } ], "hgvs": [ "NC_000014.7:g.87952822C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 36082, "referenceAllele": "C", "start": 36081 } ], "hgvs": [ "NG_021183.1:g.36082C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003462" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000393545.9:c.253C>T" ], "proteinEffect": { "hgvs": "ENSP00000377176.4:p.Arg85Ter", "hgvsWellDefined": 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"ENSP00000348991.5:p.Arg54_Val567delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS275683" }, { "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000553626.5:n.381C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS370008" }, { "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000553885.5:c.211C>T" ], "proteinEffect": { "hgvs": "ENSP00000450606.1:p.Arg71Ter", "hgvsWellDefined": "ENSP00000450606.1:p.Arg71_Pro228del" }, "referenceSequence": "http://reg.genome.network/refseq/RS370207" }, { "coordinates": [ { "allele": "T", "end": 353, "referenceAllele": "C", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000553908.5:c.*128C>T" ], "proteinEffect": { "hgvs": "ENSP00000452546.1:n.*128C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS370228" }, { "coordinates": [ { "allele": "T", "end": 532, "referenceAllele": "C", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000554168.5:c.*210C>T" ], "proteinEffect": { "hgvs": "ENSP00000451663.1:n.*210C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS370426" }, { "coordinates": [ { "allele": "T", "end": 556, "referenceAllele": "C", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000555356.5:c.*269C>T" ], "proteinEffect": { "hgvs": "ENSP00000450654.1:n.*269C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS371371" }, { "coordinates": [ { "allele": "T", "end": 211, "referenceAllele": "C", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000555401.5:c.82C>T" ], "proteinEffect": { "hgvs": "ENSP00000452435.1:p.Arg28Ter", "hgvsWellDefined": "ENSP00000452435.1:p.Arg28_Gly139del" }, "referenceSequence": "http://reg.genome.network/refseq/RS371406" }, { "coordinates": [ { "allele": "T", "end": 515, "referenceAllele": "C", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000555515.5:c.*128C>T" ], "proteinEffect": { "hgvs": "ENSP00000450882.1:n.*128C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS371493" }, { "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "C", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000555534.5:c.*57C>T" ], "proteinEffect": { "hgvs": "ENSP00000450515.1:n.*57C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS371509" }, { "coordinates": [ { "allele": "T", "end": 716, "referenceAllele": "C", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000556553.5:c.157C>T" ], "proteinEffect": { "hgvs": "ENSP00000451128.1:p.Arg53Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS372313" }, { "coordinates": [ { "allele": "T", "end": 800, "referenceAllele": "C", "start": 799 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000556666.5:n.800C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS372398" }, { "coordinates": [ { "allele": "T", "end": 394, "referenceAllele": "C", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000556870.5:c.*57C>T" ], "proteinEffect": { "hgvs": "ENSP00000452359.1:n.*57C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS372561" }, { "coordinates": [ { "allele": "T", "end": 314, "referenceAllele": "C", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000557248.5:c.234C>T" ], "proteinEffect": { "hgvs": "ENSP00000451690.1:p.Asn78=" }, "referenceSequence": "http://reg.genome.network/refseq/RS372867" }, { "@id": "http://reg.genome.network/allele/PA2825363361", "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "NM_001040428.3:c.157C>T" ], "proteinEffect": { "hgvs": "NP_001035518.1:p.Arg53Ter", "hgvsWellDefined": "NP_001035518.1:p.Arg54_Val567delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009573" }, { "@id": "http://reg.genome.network/allele/PA259908", "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "C", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "NM_018418.4:c.253C>T" ], "proteinEffect": { "hgvs": "NP_060888.2:p.Arg85Ter", "hgvsWellDefined": "NP_060888.2:p.Arg86_Val599delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035728" }, { "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_005267851.1:c.253C>T" ], "proteinEffect": { "hgvs": "XP_005267908.1:p.Arg85Ter", "hgvsWellDefined": "XP_005267908.1:p.Arg86_Val600delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnValAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065529" }, { "coordinates": [ { "allele": "T", "end": 328, "referenceAllele": "C", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_005267852.1:c.157C>T" ], "proteinEffect": { "hgvs": "XP_005267909.1:p.Arg53Ter", "hgvsWellDefined": "XP_005267909.1:p.Arg54_Val568delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnValAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065530" }, { "coordinates": [ { "allele": "T", "end": 461, "referenceAllele": "C", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_005267854.1:c.61C>T" ], "proteinEffect": { "hgvs": "XP_005267911.1:p.Arg21Ter", "hgvsWellDefined": "XP_005267911.1:p.Arg22_Val536delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnValAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065531" }, { "coordinates": [ { "allele": "T", "end": 394, "referenceAllele": "C", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_005267855.1:c.61C>T" ], "proteinEffect": { "hgvs": "XP_005267912.1:p.Arg21Ter", "hgvsWellDefined": "XP_005267912.1:p.Arg22_Val536delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnValAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065532" }, { "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_006720204.1:c.253C>T" ], "proteinEffect": { "hgvs": "XP_006720267.1:p.Arg85Ter", "hgvsWellDefined": "XP_006720267.1:p.Arg86_Glu445delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnValAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerIleProAspAlaAlaThrThrGlyProLysThrThrProLeuGluAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073549" }, { "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_006720205.1:c.253C>T" ], "proteinEffect": { "hgvs": "XP_006720268.1:p.Arg85Ter", "hgvsWellDefined": "XP_006720268.1:p.Arg86_Asp434delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnValAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValArgIleProAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073550" }, { "coordinates": [ { "allele": "T", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_011536951.1:c.100C>T" ], "proteinEffect": { "hgvs": "XP_011535253.1:p.Arg34Ter", "hgvsWellDefined": "XP_011535253.1:p.Arg35_Val549delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnValAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103922" }, { "coordinates": [ { "allele": "T", "end": 211, "referenceAllele": "C", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_011536952.1:c.82C>T" ], "proteinEffect": { "hgvs": "XP_011535254.1:p.Arg28Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS103923" }, { "coordinates": [ { "allele": "T", "end": 532, "referenceAllele": "C", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_011536953.1:c.-66C>T" ], "proteinEffect": { "hgvs": "XP_011535255.1:n.-66C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS103924" }, { "coordinates": [ { "allele": "T", "end": 324, "referenceAllele": "C", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_005267852.2:c.157C>T" ], "proteinEffect": { "hgvs": "XP_005267909.1:p.Arg53Ter", "hgvsWellDefined": "XP_005267909.1:p.Arg54_Val568delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnValAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536472" }, { "coordinates": [ { "allele": "T", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_017021452.1:c.100C>T" ], "proteinEffect": { "hgvs": "XP_016876941.1:p.Arg34Ter", "hgvsWellDefined": "XP_016876941.1:p.Arg35_Val548delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572658" }, { "coordinates": [ { "allele": "T", "end": 559, "referenceAllele": "C", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_017021453.1:c.61C>T" ], "proteinEffect": { "hgvs": "XP_016876942.1:p.Arg21Ter", "hgvsWellDefined": "XP_016876942.1:p.Arg22_Val536delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnValAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572659" }, { "coordinates": [ { "allele": "T", "end": 461, "referenceAllele": "C", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_017021454.1:c.61C>T" ], "proteinEffect": { "hgvs": "XP_016876943.1:p.Arg21Ter", "hgvsWellDefined": "XP_016876943.1:p.Arg22_Val535delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572660" }, { "coordinates": [ { "allele": "T", "end": 394, "referenceAllele": "C", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_017021455.1:c.61C>T" ], "proteinEffect": { "hgvs": "XP_016876944.1:p.Arg21Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS572661" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_017021456.1:c.61C>T" ], "proteinEffect": { "hgvs": "XP_016876945.1:p.Arg21Ter", "hgvsWellDefined": "XP_016876945.1:p.Arg22_Val535delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572662" }, { "coordinates": [ { "allele": "T", "end": 532, "referenceAllele": "C", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_017021457.1:c.-66C>T" ], "proteinEffect": { "hgvs": "XP_016876946.1:n.-66C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS572663" }, { "coordinates": [ { "allele": "T", "end": 211, "referenceAllele": "C", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_024449660.1:c.82C>T" ], "proteinEffect": { "hgvs": "XP_024305428.1:p.Arg28Ter", "hgvsWellDefined": "XP_024305428.1:p.Arg29_Val542delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583207" }, { "coordinates": [ { "allele": "T", "end": 324, "referenceAllele": "C", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XR_002957563.1:n.324C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603697" }, { "@id": "http://reg.genome.network/allele/PA259908", "coordinates": [ { "allele": "T", "end": 415, "referenceAllele": "C", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "NM_018418.5:c.253C>T" ], "proteinEffect": { "hgvs": "NP_060888.2:p.Arg85Ter", "hgvsWellDefined": "NP_060888.2:p.Arg86_Val599delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS669662", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393545.9:c.253C>T" }, "RefSeq": { "hgvs": "NM_018418.5:c.253C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377176.4:p.Arg85Ter" }, "RefSeq": { "hgvs": "NP_060888.2:p.Arg85Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825363361", "coordinates": [ { "allele": "T", "end": 319, "referenceAllele": "C", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "NM_001040428.4:c.157C>T" ], "proteinEffect": { "hgvs": "NP_001035518.1:p.Arg53Ter", "hgvsWellDefined": "NP_001035518.1:p.Arg54_Val567delinsGluLysLeuLysLysGluLeuAlaGlnCysGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711647" } ], "type": "nucleotide" }