{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA345052", "communityStandardTitle": [ "NM_024757.5(EHMT1):c.1858C>T (p.Arg620Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76637[alleleid]", "alleleId": 76637, "preferredName": "NM_024757.5(EHMT1):c.1858C>T (p.Arg620Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65729", "RCV": [ "RCV000055959", "RCV001268799" ], "variationId": 65729 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.140671136C>T?assembly=hg19", "id": "chr9:g.140671136C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.137776684C>T?assembly=hg38", "id": "chr9:g.137776684C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137852718", "rs": 137852718 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 137776684, "referenceAllele": "C", "start": 137776683 } ], "hgvs": [ "NC_000009.12:g.137776684C>T", "CM000671.2:g.137776684C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 140671136, "referenceAllele": "C", "start": 140671135 } ], "hgvs": [ "NC_000009.11:g.140671136C>T", "CM000671.1:g.140671136C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 139790957, "referenceAllele": "C", "start": 139790956 } ], "hgvs": [ "NC_000009.10:g.139790957C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 162693, "referenceAllele": "C", "start": 162692 } ], "hgvs": [ "NG_011776.1:g.162693C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001960" } ], "transcriptAlleles": [ { 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}, "referenceSequence": "http://reg.genome.network/refseq/RS756696", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000460843.6:c.1858C>T" }, "RefSeq": { "hgvs": "NM_024757.5:c.1858C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000417980.1:p.Arg620Ter" }, "RefSeq": { "hgvs": "NP_079033.4:p.Arg620Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1913, "referenceAllele": "C", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000636027.1:c.1744C>T" ], "proteinEffect": { "hgvs": "ENSP00000489961.1:p.Arg582Ter", "hgvsWellDefined": "ENSP00000489961.1:p.Arg582_Arg982del" }, "referenceSequence": "http://reg.genome.network/refseq/RS762820" }, { "coordinates": [ { "allele": "T", "end": 1863, "referenceAllele": "C", "start": 1862 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000637161.1:c.1765C>T" ], "proteinEffect": { "hgvs": "ENSP00000490328.1:p.Arg589Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS763655" }, { "coordinates": [ { "allele": "T", "end": 1898, "referenceAllele": "C", "start": 1897 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000637261.1:c.1898C>T" ], "proteinEffect": { "hgvs": "ENSP00000490815.1:n.1898C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS763735" }, { "coordinates": [ { "allele": "T", "end": 1485, "referenceAllele": "C", "start": 1484 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000638071.1:c.1485C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764319" }, { "coordinates": [ { "allele": "T", "end": 1103, "referenceAllele": "C", "start": 1102 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000640639.1:c.1027C>T" ], "proteinEffect": { "hgvs": "ENSP00000491823.1:p.Arg343Ter", "hgvsWellDefined": "ENSP00000491823.1:p.Arg343Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS765596" }, { "coordinates": [ { "allele": "T", "end": 1830, "referenceAllele": "C", "start": 1829 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000371394.6:c.*1593C>T" ], "proteinEffect": { "hgvs": "ENSP00000485945.1:n.*1593C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS268563" }, { "coordinates": [ { "allele": "T", "end": 1924, "referenceAllele": "C", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000460843.5:c.1858C>T" ], "proteinEffect": { "hgvs": "ENSP00000417980.1:p.Arg620Ter", "hgvsWellDefined": "ENSP00000417980.1:p.Arg620_Leu1298delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS305493" }, { "coordinates": [ { "allele": "T", "end": 1895, "referenceAllele": "C", "start": 1894 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000462484.5:c.1858C>T" ], "proteinEffect": { "hgvs": "ENSP00000417328.1:p.Arg620Ter", "hgvsWellDefined": "ENSP00000417328.1:p.Arg620_Trp808delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnPheCysArgLeuGlySerProArgSerArgGlyCysLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS306730" }, { "coordinates": [ { "allele": "T", "end": 715, "referenceAllele": "C", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000462942.3:c.715C>T" ], "proteinEffect": { "hgvs": "ENSP00000436107.1:p.Arg239Ter", "hgvsWellDefined": "ENSP00000436107.1:p.Arg239_Ala803delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysIleSerSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS307083" }, { "coordinates": [ { "allele": "T", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000465566.2:c.406C>T" ], "proteinEffect": { "hgvs": "ENSP00000486261.1:p.Arg136Ter", "hgvsWellDefined": "ENSP00000486261.1:p.Arg136_Thr168del" }, "referenceSequence": "http://reg.genome.network/refseq/RS309140" }, { "coordinates": [ { "allele": "A", "end": 1765, "referenceAllele": "G", "start": 1764 } ], "hgvs": [ "ENST00000626603.1:n.1765G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS406761" }, { "@id": "http://reg.genome.network/allele/PA2825895555", "coordinates": [ { "allele": "T", "end": 1895, "referenceAllele": "C", "start": 1894 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001145527.1:c.1858C>T" ], "proteinEffect": { "hgvs": "NP_001138999.1:p.Arg620Ter", "hgvsWellDefined": "NP_001138999.1:p.Arg620_Trp808delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnPheCysArgLeuGlySerProArgSerArgGlyCysLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013695" }, { "@id": "http://reg.genome.network/allele/PA345053", "coordinates": [ { "allele": "T", "end": 1895, "referenceAllele": "C", "start": 1894 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_024757.4:c.1858C>T" ], "proteinEffect": { "hgvs": "NP_079033.4:p.Arg620Ter", "hgvsWellDefined": "NP_079033.4:p.Arg620_Leu1298delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037991" }, { "coordinates": [ { "allele": "T", "end": 1923, "referenceAllele": "C", "start": 1922 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_005266105.3:c.1849C>T" ], "proteinEffect": { "hgvs": "XP_005266162.1:p.Arg617Ter", "hgvsWellDefined": "XP_005266162.1:p.Arg617_Leu1295delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064916" }, { "coordinates": [ { "allele": "T", "end": 1810, "referenceAllele": "C", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_005266110.1:c.1765C>T" ], "proteinEffect": { "hgvs": "XP_005266167.1:p.Arg589Ter", "hgvsWellDefined": "XP_005266167.1:p.Arg589_Leu1267delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064917" }, { "coordinates": [ { "allele": "T", "end": 1856, "referenceAllele": "C", "start": 1855 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_006717288.2:c.1840C>T" ], "proteinEffect": { "hgvs": "XP_006717351.1:p.Arg614Ter", "hgvsWellDefined": "XP_006717351.1:p.Arg614_Leu1292delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072095" }, { "coordinates": [ { "allele": "T", "end": 1882, "referenceAllele": "C", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519021.1:c.1867C>T" ], "proteinEffect": { "hgvs": "XP_011517323.1:p.Arg623Ter", "hgvsWellDefined": "XP_011517323.1:p.Arg623_Leu1301delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086194" }, { "coordinates": [ { "allele": "T", "end": 1879, "referenceAllele": "C", "start": 1878 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519022.1:c.1864C>T" ], "proteinEffect": { "hgvs": "XP_011517324.1:p.Arg622Ter", "hgvsWellDefined": "XP_011517324.1:p.Arg622_Leu1300delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086195" }, { "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519023.1:c.1846C>T" ], "proteinEffect": { "hgvs": "XP_011517325.1:p.Arg616Ter", "hgvsWellDefined": "XP_011517325.1:p.Arg616_Leu1294delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086196" }, { "coordinates": [ { "allele": "T", "end": 1804, "referenceAllele": "C", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519024.1:c.1789C>T" ], "proteinEffect": { "hgvs": "XP_011517326.1:p.Arg597Ter", "hgvsWellDefined": "XP_011517326.1:p.Arg597_Leu1275delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086197" }, { "coordinates": [ { "allele": "T", "end": 2058, "referenceAllele": "C", "start": 2057 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519025.1:c.1765C>T" ], "proteinEffect": { "hgvs": "XP_011517327.1:p.Arg589Ter", "hgvsWellDefined": "XP_011517327.1:p.Arg589_Leu1267delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086198" }, { "coordinates": [ { "allele": "T", "end": 1738, "referenceAllele": "C", "start": 1737 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519026.1:c.1723C>T" ], "proteinEffect": { "hgvs": "XP_011517328.1:p.Arg575Ter", "hgvsWellDefined": "XP_011517328.1:p.Arg575_Leu1253delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086199" }, { "coordinates": [ { "allele": "T", "end": 1882, "referenceAllele": "C", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519027.1:c.1867C>T" ], "proteinEffect": { "hgvs": "XP_011517329.1:p.Arg623Ter", "hgvsWellDefined": "XP_011517329.1:p.Arg623_Pro930delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnAspAspGlyThrMetLysArgGlyAlaLeuSerArgGlnLysGluGluLysArgGluAlaGluGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086200" }, { "coordinates": [ { "allele": "T", "end": 1882, "referenceAllele": "C", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519028.1:c.1867C>T" ], "proteinEffect": { "hgvs": "XP_011517330.1:p.Arg623Ter", "hgvsWellDefined": "XP_011517330.1:p.Arg623_Trp811delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnPheCysArgLeuGlySerProArgSerArgGlyCysLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086201" }, { "coordinates": [ { "allele": "T", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519029.1:c.289C>T" ], "proteinEffect": { "hgvs": "XP_011517331.1:p.Arg97Ter", "hgvsWellDefined": "XP_011517331.1:p.Arg97_Leu775delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086202" }, { "coordinates": [ { "allele": "T", "end": 1717, "referenceAllele": "C", "start": 1716 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519033.1:c.1702C>T" ], "proteinEffect": { "hgvs": "XP_011517335.1:p.Arg568Ter", "hgvsWellDefined": "XP_011517335.1:p.Arg568_Leu1246delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086206" }, { "@id": "http://reg.genome.network/allele/PA2827813724", "coordinates": [ { "allele": "T", "end": 1831, "referenceAllele": "C", "start": 1830 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001354259.1:c.1765C>T" ], "proteinEffect": { "hgvs": "NP_001341188.1:p.Arg589Ter", "hgvsWellDefined": "NP_001341188.1:p.Arg589_Leu825delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysIleGlnLysThrSerLysValTyrThrGluSerGlnGluThrGlnArgSerGlnThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522267" }, { "@id": "http://reg.genome.network/allele/PA2827818054", "coordinates": [ { "allele": "T", "end": 1874, "referenceAllele": "C", "start": 1873 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001354263.1:c.1837C>T" ], "proteinEffect": { "hgvs": "NP_001341192.1:p.Arg613Ter", "hgvsWellDefined": "NP_001341192.1:p.Arg613_Leu1291delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522271" }, { "coordinates": [ { "allele": "T", "end": 1937, "referenceAllele": "C", "start": 1936 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_005266105.5:c.1849C>T" ], "proteinEffect": { "hgvs": "XP_005266162.1:p.Arg617Ter", "hgvsWellDefined": "XP_005266162.1:p.Arg617_Leu1295delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536171" }, { "coordinates": [ { "allele": "T", "end": 2034, "referenceAllele": "C", "start": 2033 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519021.3:c.1867C>T" ], "proteinEffect": { "hgvs": "XP_011517323.1:p.Arg623Ter", "hgvsWellDefined": "XP_011517323.1:p.Arg623_Leu1301delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545172" }, { "coordinates": [ { "allele": "T", "end": 2347, "referenceAllele": "C", "start": 2346 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519022.3:c.1864C>T" ], "proteinEffect": { "hgvs": "XP_011517324.1:p.Arg622Ter", "hgvsWellDefined": "XP_011517324.1:p.Arg622_Leu1300delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545173" }, { "coordinates": [ { "allele": "T", "end": 2013, "referenceAllele": "C", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519023.3:c.1846C>T" ], "proteinEffect": { "hgvs": "XP_011517325.1:p.Arg616Ter", "hgvsWellDefined": "XP_011517325.1:p.Arg616_Leu1294delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545174" }, { "coordinates": [ { "allele": "T", "end": 482, "referenceAllele": "C", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519029.3:c.289C>T" ], "proteinEffect": { "hgvs": "XP_011517331.1:p.Arg97Ter", "hgvsWellDefined": "XP_011517331.1:p.Arg97_Leu775delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545175" }, { "coordinates": [ { "allele": "T", "end": 2326, "referenceAllele": "C", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_017015134.1:c.1843C>T" ], "proteinEffect": { "hgvs": "XP_016870623.1:p.Arg615Ter", "hgvsWellDefined": "XP_016870623.1:p.Arg615_Leu1293delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567939" }, { "coordinates": [ { "allele": "T", "end": 1787, "referenceAllele": "C", "start": 1786 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_017015136.2:c.1759C>T" ], "proteinEffect": { "hgvs": "XP_016870625.1:p.Arg587Ter", "hgvsWellDefined": "XP_016870625.1:p.Arg587_Leu1265delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567940" }, { "coordinates": [ { "allele": "T", "end": 2037, "referenceAllele": "C", "start": 2036 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_017015137.1:c.1744C>T" ], "proteinEffect": { "hgvs": "XP_016870626.1:p.Arg582Ter", "hgvsWellDefined": "XP_016870626.1:p.Arg582_Leu1260delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567941" }, { "coordinates": [ { "allele": "T", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_017015138.1:c.1744C>T" ], "proteinEffect": { "hgvs": "XP_016870627.1:p.Arg582Ter", "hgvsWellDefined": "XP_016870627.1:p.Arg582_Leu1260delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567942" }, { "coordinates": [ { "allele": "T", "end": 1759, "referenceAllele": "C", "start": 1758 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447674.1:c.1687C>T" ], "proteinEffect": { "hgvs": "XP_024303442.1:p.Arg563Ter", "hgvsWellDefined": "XP_024303442.1:p.Arg563_Leu1241delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581255" }, { "coordinates": [ { "allele": "T", "end": 1693, "referenceAllele": "C", "start": 1692 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447675.1:c.1621C>T" ], "proteinEffect": { "hgvs": "XP_024303443.1:p.Arg541Ter", "hgvsWellDefined": "XP_024303443.1:p.Arg541_Leu1219delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581256" }, { "coordinates": [ { "allele": "T", "end": 1613, "referenceAllele": "C", "start": 1612 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447676.1:c.982C>T" ], "proteinEffect": { "hgvs": "XP_024303444.1:p.Arg328Ter", "hgvsWellDefined": "XP_024303444.1:p.Arg328_Leu1006delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581257" }, { "coordinates": [ { "allele": "T", "end": 1592, "referenceAllele": "C", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447677.1:c.982C>T" ], "proteinEffect": { "hgvs": "XP_024303445.1:p.Arg328Ter", "hgvsWellDefined": "XP_024303445.1:p.Arg328_Leu1006delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581258" }, { "coordinates": [ { "allele": "T", "end": 1837, "referenceAllele": "C", "start": 1836 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447678.1:c.1765C>T" ], "proteinEffect": { "hgvs": "XP_024303446.1:p.Arg589Ter", "hgvsWellDefined": "XP_024303446.1:p.Arg589_Pro896delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnAspAspGlyThrMetLysArgGlyAlaLeuSerArgGlnLysGluGluLysArgGluAlaGluGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581259" }, { "coordinates": [ { "allele": "T", "end": 1837, "referenceAllele": "C", "start": 1836 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447679.1:c.1765C>T" ], "proteinEffect": { "hgvs": "XP_024303447.1:p.Arg589Ter", "hgvsWellDefined": "XP_024303447.1:p.Arg589_Ser852delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnIleArgSerCysGluHisPheGlnAlaGluProArgArgLeuGlnValLeuGlnAlaGlyLysProLysValGluGlyLeuProLeuValThrTyrGlyGluAspLeuValLeuPheProAsnThrAlaArgAsnHisAlaLysArgLysMetLeuGlnHisSerLeuAlaValAspGlnAlaAlaHisArgGluGlnValHisSerTrpGlyLeuThrProProPheArgGluAlaTrpLeuHisLeuHisSerLeuValAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581260" }, { "coordinates": [ { "allele": "T", "end": 1672, "referenceAllele": "C", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447680.1:c.1600C>T" ], "proteinEffect": { "hgvs": "XP_024303448.1:p.Arg534Ter", "hgvsWellDefined": "XP_024303448.1:p.Arg534_Leu1212delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581261" }, { "@id": "http://reg.genome.network/allele/PA345053", "coordinates": [ { "allele": "T", "end": 1882, "referenceAllele": "C", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_024757.5:c.1858C>T" ], "proteinEffect": { "hgvs": "NP_079033.4:p.Arg620Ter", "hgvsWellDefined": "NP_079033.4:p.Arg620_Leu1298delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670782", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000460843.6:c.1858C>T" }, "RefSeq": { "hgvs": "NM_024757.5:c.1858C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000417980.1:p.Arg620Ter" }, "RefSeq": { "hgvs": "NP_079033.4:p.Arg620Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825895555", "coordinates": [ { "allele": "T", "end": 1882, "referenceAllele": "C", "start": 1881 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001145527.2:c.1858C>T" ], "proteinEffect": { "hgvs": "NP_001138999.1:p.Arg620Ter", "hgvsWellDefined": "NP_001138999.1:p.Arg620_Trp808delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnPheCysArgLeuGlySerProArgSerArgGlyCysLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677911" }, { "@id": "http://reg.genome.network/allele/PA2827813724", "coordinates": [ { "allele": "T", "end": 1818, "referenceAllele": "C", "start": 1817 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001354259.2:c.1765C>T" ], "proteinEffect": { "hgvs": "NP_001341188.1:p.Arg589Ter", "hgvsWellDefined": "NP_001341188.1:p.Arg589_Leu825delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysIleGlnLysThrSerLysValTyrThrGluSerGlnGluThrGlnArgSerGlnThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690126" }, { "@id": "http://reg.genome.network/allele/PA2827818054", "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001354263.2:c.1837C>T" ], "proteinEffect": { "hgvs": "NP_001341192.1:p.Arg613Ter", "hgvsWellDefined": "NP_001341192.1:p.Arg613_Leu1291delinsValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690127" } ], "type": "nucleotide" }