{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16043448", "communityStandardTitle": [ "NM_001174096.2(ZEB1):c.976C>T (p.Arg326Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3782534", "active": true, "id": "COSM3782534" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3782535", "active": true, "id": "COSM3782535" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360918[alleleid]", "alleleId": 360918, "preferredName": "NM_001174096.2(ZEB1):c.976C>T (p.Arg326Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374184", "RCV": [ "RCV000415113", "RCV000599440" ], "variationId": 374184 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.31809236C>T?assembly=hg19", "id": "chr10:g.31809236C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.31520308C>T?assembly=hg38", "id": "chr10:g.31520308C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518956", "rs": 1057518956 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-31520308-C-T?dataset=gnomad_r4", "id": "10-31520308-C-T", "variant": "10:31520308 C / T" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 31520308, "referenceAllele": "C", "start": 31520307 } ], "hgvs": [ "NC_000010.11:g.31520308C>T", "CM000672.2:g.31520308C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 31809236, "referenceAllele": "C", "start": 31809235 } ], "hgvs": [ "NC_000010.10:g.31809236C>T", "CM000672.1:g.31809236C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 31849242, "referenceAllele": "C", "start": 31849241 } ], "hgvs": [ "NC_000010.9:g.31849242C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 206136, "referenceAllele": "C", "start": 206135 } ], "hgvs": [ "NG_017048.1:g.206136C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003389" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 995, "referenceAllele": "C", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "ENST00000424869.6:c.976C>T" ], "proteinEffect": { "hgvs": "ENSP00000415961.2:p.Arg326Ter", "hgvsWellDefined": "ENSP00000415961.2:p.Arg326_Ala1125delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755054", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000424869.6:c.976C>T" }, "RefSeq": { "hgvs": "NM_001174096.2:c.976C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000415961.2:p.Arg326Ter" }, "RefSeq": { "hgvs": "NP_001167567.1:p.Arg326Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1299, "referenceAllele": "C", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "ENST00000446923.7:c.925C>T" ], "proteinEffect": { "hgvs": "ENSP00000391612.2:p.Arg309Ter", "hgvsWellDefined": "ENSP00000391612.2:p.Arg309_Ala1108delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756103" }, { "coordinates": [ { "allele": "T", "end": 1083, "referenceAllele": "C", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "ENST00000320985.14:c.973C>T" ], "proteinEffect": { "hgvs": "ENSP00000319248.9:p.Arg325Ter", "hgvsWellDefined": "ENSP00000319248.9:p.Arg325_Ala1124delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS257885" }, { "coordinates": [ { "allele": "T", "end": 1039, "referenceAllele": "C", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "ENST00000361642.9:c.976C>T" ], "proteinEffect": { "hgvs": "ENSP00000354487.5:p.Arg326Ter", "hgvsWellDefined": "ENSP00000354487.5:p.Arg326_Ala1125delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265577" }, { "coordinates": [ { "allele": "T", "end": 1294, "referenceAllele": "C", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "ENST00000437844.6:c.*1113C>T" ], "proteinEffect": { "hgvs": "ENSP00000405958.3:n.*1113C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS294649" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "ENST00000446923.6:c.925C>T" ], "proteinEffect": { "hgvs": "ENSP00000391612.2:p.Arg309Ter", "hgvsWellDefined": "ENSP00000391612.2:p.Arg309_Ala1108delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS298965" }, { "coordinates": [ { "allele": "T", "end": 1686, "referenceAllele": "C", "start": 1685 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "ENST00000488625.6:n.1686C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS326878" }, { "coordinates": [ { "allele": "T", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "ENST00000542815.7:c.772C>T" ], "proteinEffect": { "hgvs": "ENSP00000444891.2:p.Arg258Ter", "hgvsWellDefined": "ENSP00000444891.2:p.Arg258_Ala1057delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363668" }, { "coordinates": [ { "allele": "T", "end": 1231, "referenceAllele": "C", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "ENST00000542879.5:n.1231C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS363704" }, { "coordinates": [ { "allele": "T", "end": 773, "referenceAllele": "C", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "ENST00000558440.5:c.751C>T" ], "proteinEffect": { "hgvs": "ENSP00000453970.1:p.Arg251Ter", "hgvsWellDefined": "ENSP00000453970.1:p.Arg251_Ser288del" }, "referenceSequence": "http://reg.genome.network/refseq/RS373795" }, { "coordinates": [ { "allele": "T", "end": 1070, "referenceAllele": "C", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "ENST00000558655.5:n.1070C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS373966" }, { "coordinates": [ { "allele": "T", "end": 852, "referenceAllele": "C", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "ENST00000558863.5:n.852C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS374130" }, { "coordinates": [ { "allele": "T", "end": 1042, "referenceAllele": "C", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "ENST00000559858.5:n.1042C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS374915" }, { "coordinates": [ { "allele": "T", "end": 936, "referenceAllele": "C", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "ENST00000560721.6:c.913C>T" ], "proteinEffect": { "hgvs": "ENSP00000452787.1:p.Arg305Ter", "hgvsWellDefined": "ENSP00000452787.1:p.Arg305_Ala1104delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS375560" }, { "coordinates": [ { "allele": "T", "end": 997, "referenceAllele": "C", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "ENST00000561212.5:c.319C>T" ], "proteinEffect": { "hgvs": "ENSP00000453559.3:p.Arg107Ter", "hgvsWellDefined": "ENSP00000453559.3:p.Arg107_Leu274del" }, "referenceSequence": "http://reg.genome.network/refseq/RS375937" }, { "@id": "http://reg.genome.network/allele/PA2825662886", "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001128128.2:c.925C>T" ], "proteinEffect": { "hgvs": "NP_001121600.1:p.Arg309Ter", "hgvsWellDefined": "NP_001121600.1:p.Arg309_Ala1108delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011717" }, { "@id": "http://reg.genome.network/allele/PA2826108261", "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "C", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001174093.1:c.913C>T" ], "proteinEffect": { "hgvs": "NP_001167564.1:p.Arg305Ter", "hgvsWellDefined": "NP_001167564.1:p.Arg305_Ala1104delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015664" }, { "@id": "http://reg.genome.network/allele/PA2826108360", "coordinates": [ { "allele": "T", "end": 1313, "referenceAllele": "C", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001174094.1:c.922C>T" ], "proteinEffect": { "hgvs": "NP_001167565.1:p.Arg308Ter", "hgvsWellDefined": "NP_001167565.1:p.Arg308_Ala1107delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015665" }, { "@id": "http://reg.genome.network/allele/PA2826108450", "coordinates": [ { "allele": "T", "end": 835, "referenceAllele": "C", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001174095.1:c.772C>T" ], "proteinEffect": { "hgvs": "NP_001167566.1:p.Arg258Ter", "hgvsWellDefined": "NP_001167566.1:p.Arg258_Ala1057delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015666" }, { "@id": "http://reg.genome.network/allele/PA915993816", "coordinates": [ { "allele": "T", "end": 1039, "referenceAllele": "C", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001174096.1:c.976C>T" ], "proteinEffect": { "hgvs": "NP_001167567.1:p.Arg326Ter", "hgvsWellDefined": "NP_001167567.1:p.Arg326_Ala1125delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015667" }, { "@id": "http://reg.genome.network/allele/PA645375353", "coordinates": [ { "allele": "T", "end": 1036, "referenceAllele": "C", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_030751.5:c.973C>T" ], "proteinEffect": { "hgvs": "NP_110378.3:p.Arg325Ter", "hgvsWellDefined": "NP_110378.3:p.Arg325_Ala1124delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038388" }, { "coordinates": [ { "allele": "T", "end": 1142, "referenceAllele": "C", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "XM_005252576.1:c.319C>T" ], "proteinEffect": { "hgvs": "XP_005252633.1:p.Arg107Ter", "hgvsWellDefined": "XP_005252633.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059992" }, { "coordinates": [ { "allele": "T", "end": 1615, "referenceAllele": "C", "start": 1614 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "XM_006717497.1:c.319C>T" ], "proteinEffect": { "hgvs": "XP_006717560.1:p.Arg107Ter", "hgvsWellDefined": "XP_006717560.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072190" }, { "coordinates": [ { "allele": "T", "end": 1474, "referenceAllele": "C", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "XM_006717498.1:c.319C>T" ], "proteinEffect": { "hgvs": "XP_006717561.1:p.Arg107Ter", "hgvsWellDefined": "XP_006717561.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072191" }, { "coordinates": [ { "allele": "T", "end": 1617, "referenceAllele": "C", "start": 1616 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "XM_011519641.1:c.319C>T" ], "proteinEffect": { "hgvs": "XP_011517943.1:p.Arg107Ter", "hgvsWellDefined": "XP_011517943.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086813" }, { "coordinates": [ { "allele": "T", "end": 1455, "referenceAllele": "C", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "XM_011519642.1:c.319C>T" ], "proteinEffect": { "hgvs": "XP_011517944.1:p.Arg107Ter", "hgvsWellDefined": "XP_011517944.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086814" }, { "coordinates": [ { "allele": "T", "end": 1777, "referenceAllele": "C", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "XM_011519643.1:c.319C>T" ], "proteinEffect": { "hgvs": "XP_011517945.1:p.Arg107Ter", "hgvsWellDefined": "XP_011517945.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086815" }, { "coordinates": [ { "allele": "T", "end": 1568, "referenceAllele": "C", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "XM_011519644.1:c.319C>T" ], "proteinEffect": { "hgvs": "XP_011517946.1:p.Arg107Ter", "hgvsWellDefined": "XP_011517946.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086816" }, { "coordinates": [ { "allele": "T", "end": 1647, "referenceAllele": "C", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "XM_011519645.1:c.319C>T" ], "proteinEffect": { "hgvs": "XP_011517947.1:p.Arg107Ter", "hgvsWellDefined": "XP_011517947.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086817" }, { "coordinates": [ { "allele": "T", "end": 1614, "referenceAllele": "C", "start": 1613 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "XM_011519646.1:c.319C>T" ], "proteinEffect": { "hgvs": "XP_011517948.1:p.Arg107Ter", "hgvsWellDefined": "XP_011517948.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086818" }, { "coordinates": [ { "allele": "T", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "XM_011519647.1:c.319C>T" ], "proteinEffect": { "hgvs": "XP_011517949.1:p.Arg107Ter", "hgvsWellDefined": "XP_011517949.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086819" }, { "coordinates": [ { "allele": "T", "end": 1373, "referenceAllele": "C", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "XM_011519648.1:c.319C>T" ], "proteinEffect": { "hgvs": "XP_011517950.1:p.Arg107Ter", "hgvsWellDefined": "XP_011517950.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086820" }, { "@id": "http://reg.genome.network/allele/PA2827198625", "coordinates": [ { "allele": "T", "end": 1686, "referenceAllele": "C", "start": 1685 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323638.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310567.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310567.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515510" }, { "@id": "http://reg.genome.network/allele/PA2827198777", "coordinates": [ { "allele": "T", "end": 1266, "referenceAllele": "C", "start": 1265 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323641.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310570.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310570.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515512" }, { "@id": "http://reg.genome.network/allele/PA2827198856", "coordinates": [ { "allele": "T", "end": 1568, "referenceAllele": "C", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323642.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310571.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310571.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515513" }, { "@id": "http://reg.genome.network/allele/PA2827198935", "coordinates": [ { "allele": "T", "end": 1346, "referenceAllele": "C", "start": 1345 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323643.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310572.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310572.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515514" }, { "@id": "http://reg.genome.network/allele/PA2827199014", "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323644.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310573.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310573.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515515" }, { "@id": "http://reg.genome.network/allele/PA2827199093", "coordinates": [ { "allele": "T", "end": 1409, "referenceAllele": "C", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323645.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310574.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310574.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515516" }, { "@id": "http://reg.genome.network/allele/PA2827199172", "coordinates": [ { "allele": "T", "end": 1647, "referenceAllele": "C", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323646.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310575.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310575.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515517" }, { "@id": "http://reg.genome.network/allele/PA2827199251", "coordinates": [ { "allele": "T", "end": 1179, "referenceAllele": "C", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323647.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310576.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310576.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515518" }, { "@id": "http://reg.genome.network/allele/PA2827199330", "coordinates": [ { "allele": "T", "end": 1119, "referenceAllele": "C", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323648.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310577.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310577.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515519" }, { "@id": "http://reg.genome.network/allele/PA2827199409", "coordinates": [ { "allele": "T", "end": 1182, "referenceAllele": "C", "start": 1181 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323649.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310578.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310578.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515520" }, { "@id": "http://reg.genome.network/allele/PA2827199488", "coordinates": [ { "allele": "T", "end": 1414, "referenceAllele": "C", "start": 1413 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323650.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310579.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310579.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515521" }, { "@id": "http://reg.genome.network/allele/PA2827199567", "coordinates": [ { "allele": "T", "end": 1082, "referenceAllele": "C", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323651.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310580.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310580.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515522" }, { "@id": "http://reg.genome.network/allele/PA2827199646", "coordinates": [ { "allele": "T", "end": 1231, "referenceAllele": "C", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323652.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310581.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310581.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515523" }, { "@id": "http://reg.genome.network/allele/PA2827199725", "coordinates": [ { "allele": "T", "end": 1338, "referenceAllele": "C", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323653.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310582.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310582.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515524" }, { "@id": "http://reg.genome.network/allele/PA2827199804", "coordinates": [ { "allele": "T", "end": 1225, "referenceAllele": "C", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323654.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310583.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310583.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515525" }, { "@id": "http://reg.genome.network/allele/PA2827199883", "coordinates": [ { "allele": "T", "end": 1335, "referenceAllele": "C", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323655.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310584.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310584.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515526" }, { "@id": "http://reg.genome.network/allele/PA2827199962", "coordinates": [ { "allele": "T", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323656.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310585.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310585.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515527" }, { "@id": "http://reg.genome.network/allele/PA2827200041", "coordinates": [ { "allele": "T", "end": 1013, "referenceAllele": "C", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323657.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310586.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310586.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515528" }, { "@id": "http://reg.genome.network/allele/PA2827200120", "coordinates": [ { "allele": "T", "end": 852, "referenceAllele": "C", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323658.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310587.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310587.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515529" }, { "@id": "http://reg.genome.network/allele/PA2827200199", "coordinates": [ { "allele": "T", "end": 1070, "referenceAllele": "C", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323659.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310588.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310588.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515530" }, { "@id": "http://reg.genome.network/allele/PA2827200278", "coordinates": [ { "allele": "T", "end": 1067, "referenceAllele": "C", "start": 1066 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323660.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310589.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310589.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515531" }, { "@id": "http://reg.genome.network/allele/PA2827200357", "coordinates": [ { "allele": "T", "end": 1213, "referenceAllele": "C", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323661.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310590.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310590.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515532" }, { "@id": "http://reg.genome.network/allele/PA2827200436", "coordinates": [ { "allele": "T", "end": 1615, "referenceAllele": "C", "start": 1614 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323662.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310591.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310591.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515533" }, { "@id": "http://reg.genome.network/allele/PA2827200515", "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323663.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310592.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310592.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515534" }, { "@id": "http://reg.genome.network/allele/PA2827200594", "coordinates": [ { "allele": "T", "end": 1538, "referenceAllele": "C", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323664.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310593.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310593.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515535" }, { "@id": "http://reg.genome.network/allele/PA2827200673", "coordinates": [ { "allele": "T", "end": 1456, "referenceAllele": "C", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323665.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310594.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310594.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515536" }, { "@id": "http://reg.genome.network/allele/PA2827200752", "coordinates": [ { "allele": "T", "end": 1396, "referenceAllele": "C", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323666.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310595.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310595.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515537" }, { "@id": "http://reg.genome.network/allele/PA2827200872", "coordinates": [ { "allele": "T", "end": 1292, "referenceAllele": "C", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323671.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310600.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310600.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515540" }, { "@id": "http://reg.genome.network/allele/PA2827200951", "coordinates": [ { "allele": "T", "end": 1344, "referenceAllele": "C", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323672.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310601.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310601.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515541" }, { "@id": "http://reg.genome.network/allele/PA2827201027", "coordinates": [ { "allele": "T", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323673.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310602.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310602.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515542" }, { "@id": "http://reg.genome.network/allele/PA2827201122", "coordinates": [ { "allele": "T", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323674.1:c.751C>T" ], "proteinEffect": { "hgvs": "NP_001310603.1:p.Arg251Ter", "hgvsWellDefined": "NP_001310603.1:p.Arg251_Ala1050delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515543" }, { "@id": "http://reg.genome.network/allele/PA2827201214", "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323675.1:c.709C>T" ], "proteinEffect": { "hgvs": "NP_001310604.1:p.Arg237Ter", "hgvsWellDefined": "NP_001310604.1:p.Arg237_Ala1036delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515544" }, { "@id": "http://reg.genome.network/allele/PA2827201313", "coordinates": [ { "allele": "T", "end": 1149, "referenceAllele": "C", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323676.1:c.934C>T" ], "proteinEffect": { "hgvs": "NP_001310605.1:p.Arg312Ter", "hgvsWellDefined": "NP_001310605.1:p.Arg312_Ala1111delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515545" }, { "@id": "http://reg.genome.network/allele/PA2827201412", "coordinates": [ { "allele": "T", "end": 1146, "referenceAllele": "C", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323677.1:c.931C>T" ], "proteinEffect": { "hgvs": "NP_001310606.1:p.Arg311Ter", "hgvsWellDefined": "NP_001310606.1:p.Arg311_Ala1110delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515546" }, { "@id": "http://reg.genome.network/allele/PA2827201505", "coordinates": [ { "allele": "T", "end": 1091, "referenceAllele": "C", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323678.1:c.700C>T" ], "proteinEffect": { "hgvs": "NP_001310607.1:p.Arg234Ter", "hgvsWellDefined": "NP_001310607.1:p.Arg234_Ala1033delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515547" }, { "coordinates": [ { "allele": "T", "end": 1474, "referenceAllele": "C", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "XM_006717498.2:c.319C>T" ], "proteinEffect": { "hgvs": "XP_006717561.1:p.Arg107Ter", "hgvsWellDefined": "XP_006717561.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539426" }, { "coordinates": [ { "allele": "T", "end": 1777, "referenceAllele": "C", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "XM_011519643.2:c.319C>T" ], "proteinEffect": { "hgvs": "XP_011517945.1:p.Arg107Ter", "hgvsWellDefined": "XP_011517945.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545435" }, { "coordinates": [ { "allele": "T", "end": 1376, "referenceAllele": "C", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "XM_017016597.1:c.319C>T" ], "proteinEffect": { "hgvs": "XP_016872086.1:p.Arg107Ter", "hgvsWellDefined": "XP_016872086.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568997" }, { "@id": "http://reg.genome.network/allele/PA2826108261", "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001174093.2:c.913C>T" ], "proteinEffect": { "hgvs": "NP_001167564.1:p.Arg305Ter", "hgvsWellDefined": "NP_001167564.1:p.Arg305_Ala1104delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678852" }, { "@id": "http://reg.genome.network/allele/PA2826108360", "coordinates": [ { "allele": "T", "end": 1247, "referenceAllele": "C", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001174094.2:c.922C>T" ], "proteinEffect": { "hgvs": "NP_001167565.1:p.Arg308Ter", "hgvsWellDefined": "NP_001167565.1:p.Arg308_Ala1107delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678853" }, { "@id": "http://reg.genome.network/allele/PA2826108450", "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001174095.2:c.772C>T" ], "proteinEffect": { "hgvs": "NP_001167566.1:p.Arg258Ter", "hgvsWellDefined": "NP_001167566.1:p.Arg258_Ala1057delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678854" }, { "@id": "http://reg.genome.network/allele/PA2827198625", "coordinates": [ { "allele": "T", "end": 1764, "referenceAllele": "C", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323638.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310567.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310567.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686087" }, { "@id": "http://reg.genome.network/allele/PA2827198777", "coordinates": [ { "allele": "T", "end": 1231, "referenceAllele": "C", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323641.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310570.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310570.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686088" }, { "@id": "http://reg.genome.network/allele/PA2827198856", "coordinates": [ { "allele": "T", "end": 1533, "referenceAllele": "C", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323642.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310571.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310571.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686089" }, { "@id": "http://reg.genome.network/allele/PA2827198935", "coordinates": [ { "allele": "T", "end": 1424, "referenceAllele": "C", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323643.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310572.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310572.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686090" }, { "@id": "http://reg.genome.network/allele/PA2827199014", "coordinates": [ { "allele": "T", "end": 1030, "referenceAllele": "C", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323644.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310573.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310573.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686091" }, { "@id": "http://reg.genome.network/allele/PA2827199093", "coordinates": [ { "allele": "T", "end": 1374, "referenceAllele": "C", "start": 1373 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323645.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310574.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310574.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686092" }, { "@id": "http://reg.genome.network/allele/PA2827199172", "coordinates": [ { "allele": "T", "end": 1612, "referenceAllele": "C", "start": 1611 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323646.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310575.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310575.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686093" }, { "@id": "http://reg.genome.network/allele/PA2827199251", "coordinates": [ { "allele": "T", "end": 1135, "referenceAllele": "C", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323647.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310576.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310576.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686094" }, { "@id": "http://reg.genome.network/allele/PA2827199330", "coordinates": [ { "allele": "T", "end": 1075, "referenceAllele": "C", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323648.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310577.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310577.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686095" }, { "@id": "http://reg.genome.network/allele/PA2827199409", "coordinates": [ { "allele": "T", "end": 1138, "referenceAllele": "C", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323649.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310578.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310578.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686096" }, { "@id": "http://reg.genome.network/allele/PA2827199488", "coordinates": [ { "allele": "T", "end": 1370, "referenceAllele": "C", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323650.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310579.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310579.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686097" }, { "@id": "http://reg.genome.network/allele/PA2827199567", "coordinates": [ { "allele": "T", "end": 1038, "referenceAllele": "C", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323651.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310580.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310580.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686098" }, { "@id": "http://reg.genome.network/allele/PA2827199646", "coordinates": [ { "allele": "T", "end": 1187, "referenceAllele": "C", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323652.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310581.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310581.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686099" }, { "@id": "http://reg.genome.network/allele/PA2827199725", "coordinates": [ { "allele": "T", "end": 1294, "referenceAllele": "C", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323653.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310582.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310582.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686100" }, { "@id": "http://reg.genome.network/allele/PA2827199804", "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323654.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310583.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310583.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686101" }, { "@id": "http://reg.genome.network/allele/PA2827199883", "coordinates": [ { "allele": "T", "end": 1291, "referenceAllele": "C", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323655.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310584.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310584.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686102" }, { "@id": "http://reg.genome.network/allele/PA2827199962", "coordinates": [ { "allele": "T", "end": 1355, "referenceAllele": "C", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323656.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310585.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310585.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686103" }, { "@id": "http://reg.genome.network/allele/PA2827200041", "coordinates": [ { "allele": "T", "end": 1358, "referenceAllele": "C", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323657.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310586.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310586.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686104" }, { "@id": "http://reg.genome.network/allele/PA2827200120", "coordinates": [ { "allele": "T", "end": 1197, "referenceAllele": "C", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323658.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310587.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310587.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686105" }, { "@id": "http://reg.genome.network/allele/PA2827200199", "coordinates": [ { "allele": "T", "end": 1063, "referenceAllele": "C", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323659.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310588.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310588.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686106" }, { "@id": "http://reg.genome.network/allele/PA2827200278", "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "C", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323660.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310589.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310589.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686107" }, { "@id": "http://reg.genome.network/allele/PA2827200357", "coordinates": [ { "allele": "T", "end": 1206, "referenceAllele": "C", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323661.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310590.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310590.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686108" }, { "@id": "http://reg.genome.network/allele/PA2827200436", "coordinates": [ { "allele": "T", "end": 1549, "referenceAllele": "C", "start": 1548 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323662.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310591.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310591.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686109" }, { "@id": "http://reg.genome.network/allele/PA2827200515", "coordinates": [ { "allele": "T", "end": 1488, "referenceAllele": "C", "start": 1487 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323663.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310592.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310592.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686110" }, { "@id": "http://reg.genome.network/allele/PA2827200594", "coordinates": [ { "allele": "T", "end": 1472, "referenceAllele": "C", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323664.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310593.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310593.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686111" }, { "@id": "http://reg.genome.network/allele/PA2827200673", "coordinates": [ { "allele": "T", "end": 1390, "referenceAllele": "C", "start": 1389 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323665.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310594.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310594.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686112" }, { "@id": "http://reg.genome.network/allele/PA2827200752", "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "C", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323666.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310595.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310595.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686113" }, { "@id": "http://reg.genome.network/allele/PA2827200872", "coordinates": [ { "allele": "T", "end": 1253, "referenceAllele": "C", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323671.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310600.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310600.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686114" }, { "@id": "http://reg.genome.network/allele/PA2827200951", "coordinates": [ { "allele": "T", "end": 1305, "referenceAllele": "C", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323672.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310601.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310601.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686115" }, { "@id": "http://reg.genome.network/allele/PA2827201027", "coordinates": [ { "allele": "T", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323673.2:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001310602.1:p.Arg107Ter", "hgvsWellDefined": "NP_001310602.1:p.Arg107_Ala906delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686116" }, { "@id": "http://reg.genome.network/allele/PA2827201122", "coordinates": [ { "allele": "T", "end": 770, "referenceAllele": "C", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323674.2:c.751C>T" ], "proteinEffect": { "hgvs": "NP_001310603.1:p.Arg251Ter", "hgvsWellDefined": "NP_001310603.1:p.Arg251_Ala1050delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686117" }, { "@id": "http://reg.genome.network/allele/PA2827201214", "coordinates": [ { "allele": "T", "end": 885, "referenceAllele": "C", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323675.2:c.709C>T" ], "proteinEffect": { "hgvs": "NP_001310604.1:p.Arg237Ter", "hgvsWellDefined": "NP_001310604.1:p.Arg237_Ala1036delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686118" }, { "@id": "http://reg.genome.network/allele/PA2827201313", "coordinates": [ { "allele": "T", "end": 1110, "referenceAllele": "C", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323676.2:c.934C>T" ], "proteinEffect": { "hgvs": "NP_001310605.1:p.Arg312Ter", "hgvsWellDefined": "NP_001310605.1:p.Arg312_Ala1111delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686119" }, { "@id": "http://reg.genome.network/allele/PA2827201412", "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "C", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323677.2:c.931C>T" ], "proteinEffect": { "hgvs": "NP_001310606.1:p.Arg311Ter", "hgvsWellDefined": "NP_001310606.1:p.Arg311_Ala1110delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686120" }, { "@id": "http://reg.genome.network/allele/PA2827201505", "coordinates": [ { "allele": "T", "end": 1025, "referenceAllele": "C", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001323678.2:c.700C>T" ], "proteinEffect": { "hgvs": "NP_001310607.1:p.Arg234Ter", "hgvsWellDefined": "NP_001310607.1:p.Arg234_Ala1033delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686121" }, { "@id": "http://reg.genome.network/allele/PA645375353", "coordinates": [ { "allele": "T", "end": 992, "referenceAllele": "C", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_030751.6:c.973C>T" ], "proteinEffect": { "hgvs": "NP_110378.3:p.Arg325Ter", "hgvsWellDefined": "NP_110378.3:p.Arg325_Ala1124delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698875" }, { "@id": "http://reg.genome.network/allele/PA2825662886", "coordinates": [ { "allele": "T", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001128128.3:c.925C>T" ], "proteinEffect": { "hgvs": "NP_001121600.1:p.Arg309Ter", "hgvsWellDefined": "NP_001121600.1:p.Arg309_Ala1108delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712237" }, { "@id": "http://reg.genome.network/allele/PA915993816", "coordinates": [ { "allele": "T", "end": 995, "referenceAllele": "C", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN011642", "geneNCBI_id": 6935, "geneSymbol": "ZEB1", "hgvs": [ "NM_001174096.2:c.976C>T" ], "proteinEffect": { "hgvs": "NP_001167567.1:p.Arg326Ter", "hgvsWellDefined": "NP_001167567.1:p.Arg326_Ala1125delinsProGlnIleArgGlnLysIleGluAsnLysProLeuGlnGluGlnLeuSerValAsnGlnIleLysThrGluProValAspTyrGluPheLysProIleValValAlaSerGlyIleAsnCysSerThrProLeuGlnAsnGlyValPheThrGlyGlyGlyProLeuGlnAlaThrSerSerProGlnGlyMetValGlnAlaValValLeuProThrValGlyLeuValSerProIleSerIleAsnLeuSerAspIleGlnAsnValLeuLysValAlaValAspGlyAsnValIleArgGlnValLeuGluAsnAsnGlnAlaAsnLeuAlaSerLysGluGlnGluThrIleAsnAlaSerProIleGlnGlnGlyGlyHisSerValIleSerAlaIleSerLeuProLeuValAspGlnAspGlyThrThrLysIleIleIleAsnTyrSerLeuGluGlnProSerGlnLeuGlnValValProGlnAsnLeuLysLysGluAsnProValAlaThrAsnSerCysLysSerGluLysLeuProGluAspLeuThrValLysSerGluLysAspLysSerPheGluGlyGlyValAsnAspSerThrCysLeuLeuCysAspAspCysProGlyAspIleAsnAlaLeuProGluLeuLysHisTyrAspLeuLysGlnProThrGlnProProProLeuProAlaAlaGluAlaGluLysProGluSerSerValSerSerAlaThrGlyAspGlyAsnLeuSerProSerGlnProProLeuLysAsnLeuLeuSerLeuLeuLysAlaTyrTyrAlaLeuAsnAlaGlnProSerAlaGluGluLeuSerLysIleAlaAspSerValAsnLeuProLeuAspValValLysLysTrpPheGluLysMetGlnAlaGlyGlnIleSerValGlnSerSerGluProSerSerProGluProGlyLysValAsnIleProAlaLysAsnAsnAspGlnProGlnSerAlaAsnAlaAsnGluProGlnAspSerThrValAsnLeuGlnSerProLeuLysMetThrAsnSerProValLeuProValGlySerThrThrAsnGlySerArgSerSerThrProSerProSerProLeuAsnLeuSerSerSerArgAsnThrGlnGlyTyrLeuTyrThrAlaGluGlyAlaGlnGluGluProGlnValGluProLeuAspLeuSerLeuProLysGlnGlnGlyGluLeuLeuGluArgSerThrIleThrSerValTyrGlnAsnSerValTyrSerValGlnGluGluProLeuAsnLeuSerCysAlaLysLysGluProGlnLysAspSerCysValThrAspSerGluProValValAsnValIleProProSerAlaAsnProIleAsnIleAlaIleProThrValThrAlaGlnLeuProThrIleValAlaIleAlaAspGlnAsnSerValProCysLeuArgAlaLeuAlaAlaAsnLysGlnThrIleLeuIleProGlnValAlaTyrThrTyrSerThrThrValSerProAlaValGlnGluProProLeuLysValIleGlnProAsnGlyAsnGlnAspGluArgGlnAspThrSerSerGluGlyValSerAsnValGluAspGlnAsnAspSerAspSerThrProProLysLysLysMetArgLysThrGluAsnGlyMetTyrAlaCysAspLeuCysAspLysIlePheGlnLysSerSerSerLeuLeuArgHisLysTyrGluHisThrGlyLysArgProHisGluCysGlyIleCysLysLysAlaPheLysHisLysHisHisLeuIleGluHisMetArgLeuHisSerGlyGluLysProTyrGlnCysAspLysCysGlyLysArgPheSerHisSerGlySerTyrSerGlnHisMetAsnHisArgTyrSerTyrCysLysArgGluAlaGluGluArgAspSerThrGluGlnGluGluAlaGlyProGluIleLeuSerAsnGluHisValGlyAlaArgAlaSerProSerGlnGlyAspSerAspGluArgGluSerLeuThrArgGluGluAspGluAspSerGluLysGluGluGluGluGluAspLysGluMetGluGluLeuGlnGluGluLysGluCysGluLysProGlnGlyAspGluGluGluGluGluGluGluGluGluValGluGluGluGluValGluGluAlaGluAsnGluGlyGluGluAlaLysThrGluGlyLeuMetLysAspAspArgAlaGluSerGlnAlaSerSerLeuGlyGlnLysValGlyGluSerSerGluGlnValSerGluGluLysThrAsnGluAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713498", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000424869.6:c.976C>T" }, "RefSeq": { "hgvs": "NM_001174096.2:c.976C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000415961.2:p.Arg326Ter" }, "RefSeq": { "hgvs": "NP_001167567.1:p.Arg326Ter" } } } } ], "type": "nucleotide" }