{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA345050", "communityStandardTitle": [ "NM_024757.5(EHMT1):c.1810C>T (p.Gln604Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76636[alleleid]", "alleleId": 76636, "preferredName": "NM_024757.5(EHMT1):c.1810C>T (p.Gln604Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65728", "RCV": [ "RCV000055958" ], "variationId": 65728 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.140671088C>T?assembly=hg19", "id": "chr9:g.140671088C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.137776636C>T?assembly=hg38", "id": "chr9:g.137776636C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137852717", "rs": 137852717 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 137776636, "referenceAllele": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS305493" }, { "coordinates": [ { "allele": "T", "end": 1847, "referenceAllele": "C", "start": 1846 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000462484.5:c.1810C>T" ], "proteinEffect": { "hgvs": "ENSP00000417328.1:p.Gln604Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS307083" }, { "coordinates": [ { "allele": "T", "end": 358, "referenceAllele": "C", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "ENST00000465566.2:c.358C>T" ], "proteinEffect": { "hgvs": "ENSP00000486261.1:p.Gln120Ter", "hgvsWellDefined": "ENSP00000486261.1:p.Gln120_Thr168del" }, "referenceSequence": "http://reg.genome.network/refseq/RS309140" }, { "coordinates": [ { "allele": "A", "end": 1813, "referenceAllele": "G", "start": 1812 } ], "hgvs": [ "ENST00000626603.1:n.1813G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS406761" }, { "@id": "http://reg.genome.network/allele/PA2825895544", "coordinates": [ { "allele": "T", "end": 1847, "referenceAllele": "C", "start": 1846 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001145527.1:c.1810C>T" ], "proteinEffect": { 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"geneSymbol": "EHMT1", "hgvs": [ "NM_024757.4:c.1810C>T" ], "proteinEffect": { "hgvs": "NP_079033.4:p.Gln604Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS037991" }, { "coordinates": [ { "allele": "T", "end": 1875, "referenceAllele": "C", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_005266105.3:c.1801C>T" ], "proteinEffect": { "hgvs": "XP_005266162.1:p.Gln601Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS064916" }, { "coordinates": [ { "allele": "T", "end": 1762, "referenceAllele": "C", "start": 1761 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_005266110.1:c.1717C>T" ], "proteinEffect": { "hgvs": "XP_005266167.1:p.Gln573Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS064917" }, { "coordinates": [ { "allele": "T", "end": 1808, "referenceAllele": "C", "start": 1807 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_006717288.2:c.1792C>T" ], "proteinEffect": { "hgvs": "XP_006717351.1:p.Gln598Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS072095" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519021.1:c.1819C>T" ], "proteinEffect": { "hgvs": "XP_011517323.1:p.Gln607Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS086194" }, { "coordinates": [ { "allele": "T", "end": 1831, "referenceAllele": "C", "start": 1830 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519022.1:c.1816C>T" ], "proteinEffect": { "hgvs": "XP_011517324.1:p.Gln606Ter", "hgvsWellDefined": "XP_011517324.1:p.Gln606_Leu1300delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086195" }, { "coordinates": [ { "allele": "T", "end": 1813, "referenceAllele": "C", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519023.1:c.1798C>T" ], "proteinEffect": { "hgvs": "XP_011517325.1:p.Gln600Ter", "hgvsWellDefined": "XP_011517325.1:p.Gln600_Leu1294delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086196" }, { "coordinates": [ { "allele": "T", "end": 1756, "referenceAllele": "C", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519024.1:c.1741C>T" ], "proteinEffect": { "hgvs": "XP_011517326.1:p.Gln581Ter", "hgvsWellDefined": "XP_011517326.1:p.Gln581_Leu1275delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086197" }, { "coordinates": [ { "allele": "T", "end": 2010, "referenceAllele": "C", "start": 2009 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519025.1:c.1717C>T" ], "proteinEffect": { "hgvs": "XP_011517327.1:p.Gln573Ter", "hgvsWellDefined": "XP_011517327.1:p.Gln573_Leu1267delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086198" }, { "coordinates": [ { "allele": "T", "end": 1690, "referenceAllele": "C", "start": 1689 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519026.1:c.1675C>T" ], "proteinEffect": { "hgvs": "XP_011517328.1:p.Gln559Ter", "hgvsWellDefined": "XP_011517328.1:p.Gln559_Leu1253delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086199" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519027.1:c.1819C>T" ], "proteinEffect": { "hgvs": "XP_011517329.1:p.Gln607Ter", "hgvsWellDefined": "XP_011517329.1:p.Gln607_Pro930delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnAspAspGlyThrMetLysArgGlyAlaLeuSerArgGlnLysGluGluLysArgGluAlaGluGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086200" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519028.1:c.1819C>T" ], "proteinEffect": { "hgvs": "XP_011517330.1:p.Gln607Ter", "hgvsWellDefined": "XP_011517330.1:p.Gln607_Trp811delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnPheCysArgLeuGlySerProArgSerArgGlyCysLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086201" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519029.1:c.241C>T" ], "proteinEffect": { "hgvs": "XP_011517331.1:p.Gln81Ter", "hgvsWellDefined": "XP_011517331.1:p.Gln81_Leu775delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086202" }, { "coordinates": [ { "allele": "T", "end": 1669, "referenceAllele": "C", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519033.1:c.1654C>T" ], "proteinEffect": { "hgvs": "XP_011517335.1:p.Gln552Ter", "hgvsWellDefined": "XP_011517335.1:p.Gln552_Leu1246delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086206" }, { "@id": "http://reg.genome.network/allele/PA2827813712", "coordinates": [ { "allele": "T", "end": 1783, "referenceAllele": "C", "start": 1782 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001354259.1:c.1717C>T" ], "proteinEffect": { "hgvs": "NP_001341188.1:p.Gln573Ter", "hgvsWellDefined": "NP_001341188.1:p.Gln573_Leu825delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysIleGlnLysThrSerLysValTyrThrGluSerGlnGluThrGlnArgSerGlnThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522267" }, { "@id": "http://reg.genome.network/allele/PA2827818040", "coordinates": [ { "allele": "T", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001354263.1:c.1789C>T" ], "proteinEffect": { "hgvs": "NP_001341192.1:p.Gln597Ter", "hgvsWellDefined": "NP_001341192.1:p.Gln597_Leu1291delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522271" }, { "coordinates": [ { "allele": "T", "end": 1889, "referenceAllele": "C", "start": 1888 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_005266105.5:c.1801C>T" ], "proteinEffect": { "hgvs": "XP_005266162.1:p.Gln601Ter", "hgvsWellDefined": "XP_005266162.1:p.Gln601_Leu1295delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536171" }, { "coordinates": [ { "allele": "T", "end": 1986, "referenceAllele": "C", "start": 1985 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519021.3:c.1819C>T" ], "proteinEffect": { "hgvs": "XP_011517323.1:p.Gln607Ter", "hgvsWellDefined": "XP_011517323.1:p.Gln607_Leu1301delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545172" }, { "coordinates": [ { "allele": "T", "end": 2299, "referenceAllele": "C", "start": 2298 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519022.3:c.1816C>T" ], "proteinEffect": { "hgvs": "XP_011517324.1:p.Gln606Ter", "hgvsWellDefined": "XP_011517324.1:p.Gln606_Leu1300delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545173" }, { "coordinates": [ { "allele": "T", "end": 1965, "referenceAllele": "C", "start": 1964 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519023.3:c.1798C>T" ], "proteinEffect": { "hgvs": "XP_011517325.1:p.Gln600Ter", "hgvsWellDefined": "XP_011517325.1:p.Gln600_Leu1294delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545174" }, { "coordinates": [ { "allele": "T", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_011519029.3:c.241C>T" ], "proteinEffect": { "hgvs": "XP_011517331.1:p.Gln81Ter", "hgvsWellDefined": "XP_011517331.1:p.Gln81_Leu775delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545175" }, { "coordinates": [ { "allele": "T", "end": 2278, "referenceAllele": "C", "start": 2277 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_017015134.1:c.1795C>T" ], "proteinEffect": { "hgvs": "XP_016870623.1:p.Gln599Ter", "hgvsWellDefined": "XP_016870623.1:p.Gln599_Leu1293delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567939" }, { "coordinates": [ { "allele": "T", "end": 1739, "referenceAllele": "C", "start": 1738 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_017015136.2:c.1711C>T" ], "proteinEffect": { "hgvs": "XP_016870625.1:p.Gln571Ter", "hgvsWellDefined": "XP_016870625.1:p.Gln571_Leu1265delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567940" }, { "coordinates": [ { "allele": "T", "end": 1989, "referenceAllele": "C", "start": 1988 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_017015137.1:c.1696C>T" ], "proteinEffect": { "hgvs": "XP_016870626.1:p.Gln566Ter", "hgvsWellDefined": "XP_016870626.1:p.Gln566_Leu1260delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567941" }, { "coordinates": [ { "allele": "T", "end": 1741, "referenceAllele": "C", "start": 1740 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_017015138.1:c.1696C>T" ], "proteinEffect": { "hgvs": "XP_016870627.1:p.Gln566Ter", "hgvsWellDefined": "XP_016870627.1:p.Gln566_Leu1260delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567942" }, { "coordinates": [ { "allele": "T", "end": 1711, "referenceAllele": "C", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447674.1:c.1639C>T" ], "proteinEffect": { "hgvs": "XP_024303442.1:p.Gln547Ter", "hgvsWellDefined": "XP_024303442.1:p.Gln547_Leu1241delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581255" }, { "coordinates": [ { "allele": "T", "end": 1645, "referenceAllele": "C", "start": 1644 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447675.1:c.1573C>T" ], "proteinEffect": { "hgvs": "XP_024303443.1:p.Gln525Ter", "hgvsWellDefined": "XP_024303443.1:p.Gln525_Leu1219delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581256" }, { "coordinates": [ { "allele": "T", "end": 1565, "referenceAllele": "C", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447676.1:c.934C>T" ], "proteinEffect": { "hgvs": "XP_024303444.1:p.Gln312Ter", "hgvsWellDefined": "XP_024303444.1:p.Gln312_Leu1006delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581257" }, { "coordinates": [ { "allele": "T", "end": 1544, "referenceAllele": "C", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447677.1:c.934C>T" ], "proteinEffect": { "hgvs": "XP_024303445.1:p.Gln312Ter", "hgvsWellDefined": "XP_024303445.1:p.Gln312_Leu1006delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581258" }, { "coordinates": [ { "allele": "T", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447678.1:c.1717C>T" ], "proteinEffect": { "hgvs": "XP_024303446.1:p.Gln573Ter", "hgvsWellDefined": "XP_024303446.1:p.Gln573_Pro896delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnAspAspGlyThrMetLysArgGlyAlaLeuSerArgGlnLysGluGluLysArgGluAlaGluGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581259" }, { "coordinates": [ { "allele": "T", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447679.1:c.1717C>T" ], "proteinEffect": { "hgvs": "XP_024303447.1:p.Gln573Ter", "hgvsWellDefined": "XP_024303447.1:p.Gln573_Ser852delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnIleArgSerCysGluHisPheGlnAlaGluProArgArgLeuGlnValLeuGlnAlaGlyLysProLysValGluGlyLeuProLeuValThrTyrGlyGluAspLeuValLeuPheProAsnThrAlaArgAsnHisAlaLysArgLysMetLeuGlnHisSerLeuAlaValAspGlnAlaAlaHisArgGluGlnValHisSerTrpGlyLeuThrProProPheArgGluAlaTrpLeuHisLeuHisSerLeuValAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581260" }, { "coordinates": [ { "allele": "T", "end": 1624, "referenceAllele": "C", "start": 1623 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "XM_024447680.1:c.1552C>T" ], "proteinEffect": { "hgvs": "XP_024303448.1:p.Gln518Ter", "hgvsWellDefined": "XP_024303448.1:p.Gln518_Leu1212delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581261" }, { "@id": "http://reg.genome.network/allele/PA345051", "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_024757.5:c.1810C>T" ], "proteinEffect": { "hgvs": "NP_079033.4:p.Gln604Ter", "hgvsWellDefined": "NP_079033.4:p.Gln604_Leu1298delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670782", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000460843.6:c.1810C>T" }, "RefSeq": { "hgvs": "NM_024757.5:c.1810C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000417980.1:p.Gln604Ter" }, "RefSeq": { "hgvs": "NP_079033.4:p.Gln604Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825895544", "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001145527.2:c.1810C>T" ], "proteinEffect": { "hgvs": "NP_001138999.1:p.Gln604Ter", "hgvsWellDefined": "NP_001138999.1:p.Gln604_Trp808delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnPheCysArgLeuGlySerProArgSerArgGlyCysLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677911" }, { "@id": "http://reg.genome.network/allele/PA2827813712", "coordinates": [ { "allele": "T", "end": 1770, "referenceAllele": "C", "start": 1769 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001354259.2:c.1717C>T" ], "proteinEffect": { "hgvs": "NP_001341188.1:p.Gln573Ter", "hgvsWellDefined": "NP_001341188.1:p.Gln573_Leu825delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysIleGlnLysThrSerLysValTyrThrGluSerGlnGluThrGlnArgSerGlnThrIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690126" }, { "@id": "http://reg.genome.network/allele/PA2827818040", "coordinates": [ { "allele": "T", "end": 1813, "referenceAllele": "C", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN024650", "geneNCBI_id": 79813, "geneSymbol": "EHMT1", "hgvs": [ "NM_001354263.2:c.1789C>T" ], "proteinEffect": { "hgvs": "NP_001341192.1:p.Gln597Ter", "hgvsWellDefined": "NP_001341192.1:p.Gln597_Leu1291delinsProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690127" } ], "type": "nucleotide" }