{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA358142219", "communityStandardTitle": [ "NM_015693.4(INTU):c.1063G>T (p.Glu355Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1618366", "active": true, "id": "COSM1618366" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3660879", "active": true, "id": "COSM3660879" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=496106[alleleid]", "alleleId": 496106, "preferredName": "NM_015693.4(INTU):c.1063G>T (p.Glu355Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/504481", "RCV": [ "RCV000599556", "RCV000851203" ], "variationId": 504481 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.128590281G>T?assembly=hg19", "id": "chr4:g.128590281G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.127669126G>T?assembly=hg38", "id": "chr4:g.127669126G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1037828930", "rs": 1037828930 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 127669126, "referenceAllele": "G", "start": 127669125 } ], "hgvs": [ "NC_000004.12:g.127669126G>T", "CM000666.2:g.127669126G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 128590281, "referenceAllele": "G", "start": 128590280 } ], "hgvs": [ "NC_000004.11:g.128590281G>T", "CM000666.1:g.128590281G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 128809731, "referenceAllele": "G", "start": 128809730 } ], "hgvs": [ "NC_000004.10:g.128809731G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1141, "referenceAllele": "G", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "ENST00000335251.11:c.1063G>T" ], "proteinEffect": { "hgvs": "ENSP00000334003.5:p.Glu355Ter", "hgvsWellDefined": "ENSP00000334003.5:p.Glu355_Leu942delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747487", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000335251.11:c.1063G>T" }, "RefSeq": { "hgvs": "NM_015693.4:c.1063G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000334003.5:p.Glu355Ter" }, "RefSeq": { "hgvs": "NP_056508.2:p.Glu355Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "G", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "ENST00000335251.10:c.1063G>T" ], "proteinEffect": { "hgvs": "ENSP00000334003.5:p.Glu355Ter", "hgvsWellDefined": "ENSP00000334003.5:p.Glu355_Leu942delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260083" }, { "coordinates": [ { "allele": "T", "end": 1141, "referenceAllele": "G", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "ENST00000503626.5:c.1063G>T" ], "proteinEffect": { "hgvs": "ENSP00000426287.1:p.Glu355Ter", "hgvsWellDefined": "ENSP00000426287.1:p.Glu355_Asn408delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluIleGluLeuProSerSerAlaHisThrHisGlyGluArgAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS335881" }, { "coordinates": [ { "allele": "T", "end": 1132, "referenceAllele": "G", "start": 1131 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "ENST00000503952.5:c.1063G>T" ], "proteinEffect": { "hgvs": "ENSP00000421995.1:p.Glu355Ter", "hgvsWellDefined": "ENSP00000421995.1:p.Glu355_Ile435delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerIleMetLysGluPheSerValIleValSerSerGlyLysIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS336150" }, { "@id": "http://reg.genome.network/allele/PA658813759", "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "G", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "NM_015693.3:c.1063G>T" ], "proteinEffect": { "hgvs": "NP_056508.2:p.Glu355Ter", "hgvsWellDefined": "NP_056508.2:p.Glu355_Leu942delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034199" }, { "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "G", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "XM_011531844.1:c.1060G>T" ], "proteinEffect": { "hgvs": "XP_011530146.1:p.Glu354Ter", "hgvsWellDefined": "XP_011530146.1:p.Glu354_Leu941delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098875" }, { "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "G", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "XM_011531845.1:c.1063G>T" ], "proteinEffect": { "hgvs": "XP_011530147.1:p.Glu355Ter", "hgvsWellDefined": "XP_011530147.1:p.Glu355_Leu924delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098876" }, { "coordinates": [ { "allele": "T", "end": 1138, "referenceAllele": "G", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "XM_011531846.1:c.1006G>T" ], "proteinEffect": { "hgvs": "XP_011530148.1:p.Glu336Ter", "hgvsWellDefined": "XP_011530148.1:p.Glu336_Leu923delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098877" }, { "coordinates": [ { "allele": "T", "end": 575, "referenceAllele": "G", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "XM_011531847.1:c.67G>T" ], "proteinEffect": { "hgvs": "XP_011530149.1:p.Glu23Ter", "hgvsWellDefined": "XP_011530149.1:p.Glu23_Leu610delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098878" }, { "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "G", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "XM_011531849.1:c.1063G>T" ], "proteinEffect": { "hgvs": "XP_011530151.1:p.Glu355Ter", "hgvsWellDefined": "XP_011530151.1:p.Glu355_Ser530delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlnGlnAsnLysGluLeuValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098880" }, { "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "G", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "XM_011531850.1:c.1063G>T" ], "proteinEffect": { "hgvs": "XP_011530152.1:p.Glu355Ter", "hgvsWellDefined": "XP_011530152.1:p.Glu355_Ser512delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlnGlnAsnLysGluLeuValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098881" }, { "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "G", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "XM_011531851.1:c.1063G>T" ], "proteinEffect": { "hgvs": "XP_011530153.1:p.Glu355Ter", "hgvsWellDefined": "XP_011530153.1:p.Glu355_Arg504delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysIleLysLeuGlnIleLysPheIleLeuPheLeuAsnLeuGluCysPheLysGluGluGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098882" }, { "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "G", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "XR_938720.1:n.1166G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS133418" }, { "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "G", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "XM_011531844.3:c.1060G>T" ], "proteinEffect": { "hgvs": "XP_011530146.1:p.Glu354Ter", "hgvsWellDefined": "XP_011530146.1:p.Glu354_Leu941delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550576" }, { "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "G", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "XM_011531845.3:c.1063G>T" ], "proteinEffect": { "hgvs": "XP_011530147.1:p.Glu355Ter", "hgvsWellDefined": "XP_011530147.1:p.Glu355_Leu924delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550577" }, { "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "G", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "XM_011531849.3:c.1063G>T" ], "proteinEffect": { "hgvs": "XP_011530151.1:p.Glu355Ter", "hgvsWellDefined": "XP_011530151.1:p.Glu355_Ser530delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlnGlnAsnLysGluLeuValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550579" }, { "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "G", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "XM_011531850.3:c.1063G>T" ], "proteinEffect": { "hgvs": "XP_011530152.1:p.Glu355Ter", "hgvsWellDefined": "XP_011530152.1:p.Glu355_Ser512delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlnGlnAsnLysGluLeuValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550580" }, { "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "G", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "XM_011531851.3:c.1063G>T" ], "proteinEffect": { "hgvs": "XP_011530153.1:p.Glu355Ter", "hgvsWellDefined": "XP_011530153.1:p.Glu355_Arg504delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysIleLysLeuGlnIleLysPheIleLeuPheLeuAsnLeuGluCysPheLysGluGluGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550581" }, { "coordinates": [ { "allele": "T", "end": 109, "referenceAllele": "G", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "XM_017008025.1:c.67G>T" ], "proteinEffect": { "hgvs": "XP_016863514.1:p.Glu23Ter", "hgvsWellDefined": "XP_016863514.1:p.Glu23_Leu610delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562636" }, { "coordinates": [ { "allele": "T", "end": 1166, "referenceAllele": "G", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "XM_017008026.2:c.1063G>T" ], "proteinEffect": { "hgvs": "XP_016863515.1:p.Glu355Ter", "hgvsWellDefined": "XP_016863515.1:p.Glu355_Val502delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562637" }, { "coordinates": [ { "allele": "T", "end": 1138, "referenceAllele": "G", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "XR_001741201.1:n.1138G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591239" }, { "@id": "http://reg.genome.network/allele/PA658813759", "coordinates": [ { "allele": "T", "end": 1141, "referenceAllele": "G", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN029239", "geneNCBI_id": 27152, "geneSymbol": "INTU", "hgvs": [ "NM_015693.4:c.1063G>T" ], "proteinEffect": { "hgvs": "NP_056508.2:p.Glu355Ter", "hgvsWellDefined": "NP_056508.2:p.Glu355_Leu942delinsAsnValThrGlyThrGlnValThrSerSerSerLeuLeuLeuAsnGlyLysGlnIleHisValAlaTyrTrpLysGluSerAspLysLeuLeuLeuIleGlyLeuProAlaGluGluValProLeuProArgLeuArgAsnMetIleGluAsnValIleGlnThrLeuLysPheMetTyrGlySerLeuAspSerAlaPheCysGlnIleGluAsnValProArgLeuAspHisPhePheAsnLeuPhePheGlnArgAlaLeuGlnProAlaLysLeuHisSerSerAlaSerProSerAlaGlnGlnTyrAspAlaSerSerAlaValLeuLeuAspAsnLeuProGlyValArgTrpLeuThrLeuProLeuGluIleLysMetGluLeuAspMetAlaLeuSerAspLeuGluAlaAlaAspPheAlaGluLeuSerGluAspTyrTyrAspMetArgArgLeuTyrThrIleLeuGlySerSerLeuPheTyrLysGlyTyrLeuIleCysSerHisLeuProLysAspAspLeuIleAspIleAlaValTyrCysArgHisTyrCysLeuLeuProLeuAlaAlaLysGlnArgIleGlyGlnLeuIleIleTrpArgGluValPheProGlnHisHisLeuArgProLeuAlaAspSerSerThrGluValPheProGluProGluGlyArgTyrPheLeuLeuValValGlyLeuLysHisTyrMetLeuCysValLeuLeuGluAlaGlyGlyCysAlaSerLysAlaIleGlySerProGlyProAspCysValTyrValAspGlnValLysThrThrLeuHisGlnLeuAspGlyValAspSerArgIleAspGluArgLeuAlaSerSerProValProCysLeuSerCysAlaAspTrpPheLeuThrGlySerArgGluLysThrAspSerLeuThrThrSerProIleLeuSerArgLeuGlnGlyThrSerLysValAlaThrSerProThrCysArgArgThrLeuPheGlyAspTyrSerLeuLysThrArgLysProSerProSerCysSerSerGlyGlySerAspAsnGlyCysGluGlyGlyGluAspAspGlyPheSerProHisThrThrProAspAlaValArgLysGlnArgGluSerGlnGlySerAspGlyLeuGluGluSerGlyThrLeuLeuLysValThrLysLysLysSerThrLeuProAsnProPheHisLeuGlyAsnLeuLysLysAspLeuProGluLysGluLeuGluIleTyrAsnThrValLysLeuThrSerGlyProGluAsnThrLeuPheHisTyrValAlaLeuGluThrValGlnGlyIlePheIleThrProThrLeuGluGluValAlaGlnLeuSerGlySerIleHisProGlnLeuIleLysAsnPheHisGlnCysCysLeuSerIleArgAlaValPheGlnGlnThrLeuValGluGluLysLysLysGlyLeuAsnSerGlyAspHisSerAspSerAlaLysSerValSerSerLeuAsnProValLysGluHisGlyValLeuPheGluCysSerProGlyAsnTrpThrAspGlnLysLysAlaProProValMetAlaTyrTrpValValGlyArgLeuPheLeuHisProLysProGlnGluLeuTyrValCysPheHisAspSerValThrGluIleAlaIleGluIleAlaPheLysLeuPhePheGlyLeuThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668851", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000335251.11:c.1063G>T" }, "RefSeq": { "hgvs": "NM_015693.4:c.1063G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000334003.5:p.Glu355Ter" }, "RefSeq": { "hgvs": "NP_056508.2:p.Glu355Ter" } } } } ], "type": "nucleotide" }