{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA384699843", "communityStandardTitle": [ "NM_003482.4(KMT2D):c.14006C>G (p.Ser4669Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1935260[alleleid]", "alleleId": 1935260, "preferredName": "NM_003482.4(KMT2D):c.14006C>G (p.Ser4669Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1878495", "RCV": [ "RCV002510548" ], "variationId": 1878495 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.49423253G>C?assembly=hg19", "id": "chr12:g.49423253G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.49029470G>C?assembly=hg38", "id": "chr12:g.49029470G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1942779993", "rs": 1942779993 } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "C", "end": 49029470, 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"http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000687241.1:c.98C>G" ], "proteinEffect": { "hgvs": "ENSP00000509842.1:p.Ser33Ter", "hgvsWellDefined": "ENSP00000509842.1:p.Ser33_Leu135delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProGluProGluTrpArgAspGlyGlySerGlyGlyAlaAlaGluHisGluAspProGlnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830995" }, { "coordinates": [ { "allele": "G", "end": 305, "referenceAllele": "C", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000691986.1:c.305C>G" ], "proteinEffect": { "hgvs": "ENSP00000509196.1:p.Ser102Ter", "hgvsWellDefined": "ENSP00000509196.1:p.Ser102Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS833480" }, { "coordinates": [ { "allele": "G", "end": 14003, "referenceAllele": "C", "start": 14002 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000692637.1:c.14003C>G" ], "proteinEffect": { "hgvs": "ENSP00000509666.1:p.Ser4668Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS833805" }, { "coordinates": [ { "allele": "G", "end": 15225, "referenceAllele": "C", "start": 15224 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000301067.12:c.14006C>G" ], "proteinEffect": { "hgvs": "ENSP00000301067.7:p.Ser4669Ter", "hgvsWellDefined": "ENSP00000301067.7:p.Ser4669_Asn5537delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744808", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301067.12:c.14006C>G" }, "RefSeq": { "hgvs": "NM_003482.4:c.14006C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301067.7:p.Ser4669Ter" }, "RefSeq": { "hgvs": "NP_003473.3:p.Ser4669Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 14006, "referenceAllele": "C", "start": 14005 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000301067.11:c.14006C>G" ], "proteinEffect": { "hgvs": "ENSP00000301067.7:p.Ser4669Ter", "hgvsWellDefined": "ENSP00000301067.7:p.Ser4669_Asn5537delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254955" }, { "@id": "http://reg.genome.network/allele/PA2580284964", "coordinates": [ { "allele": "G", "end": 14006, "referenceAllele": "C", "start": 14005 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "NM_003482.3:c.14006C>G" ], "proteinEffect": { "hgvs": "NP_003473.3:p.Ser4669Ter", "hgvsWellDefined": "NP_003473.3:p.Ser4669_Asn5537delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028721" }, { "coordinates": [ { "allele": "G", "end": 15300, "referenceAllele": "C", "start": 15299 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_005269162.3:c.14006C>G" ], "proteinEffect": { "hgvs": "XP_005269219.1:p.Ser4669Ter", "hgvsWellDefined": "XP_005269219.1:p.Ser4669_Asn5537delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066041" }, { "coordinates": [ { "allele": "G", "end": 15309, "referenceAllele": "C", "start": 15308 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719614.2:c.14015C>G" ], "proteinEffect": { "hgvs": "XP_006719677.1:p.Ser4672Ter", "hgvsWellDefined": "XP_006719677.1:p.Ser4672_Asn5540delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073234" }, { "coordinates": [ { "allele": "G", "end": 15296, "referenceAllele": "C", "start": 15295 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719616.2:c.14003C>G" ], "proteinEffect": { "hgvs": "XP_006719679.1:p.Ser4668Ter", "hgvsWellDefined": "XP_006719679.1:p.Ser4668_Asn5536delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073235" }, { "coordinates": [ { "allele": "G", "end": 15316, "referenceAllele": "C", "start": 15315 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538770.1:c.14015C>G" ], "proteinEffect": { "hgvs": "XP_011537072.1:p.Ser4672Ter", "hgvsWellDefined": "XP_011537072.1:p.Ser4672_Asn5556delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105724" }, { "coordinates": [ { "allele": "G", "end": 15313, "referenceAllele": "C", "start": 15312 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538771.1:c.14012C>G" ], "proteinEffect": { "hgvs": "XP_011537073.1:p.Ser4671Ter", "hgvsWellDefined": "XP_011537073.1:p.Ser4671_Asn5555delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105725" }, { "coordinates": [ { "allele": "G", "end": 15306, "referenceAllele": "C", "start": 15305 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538772.1:c.14006C>G" ], "proteinEffect": { "hgvs": "XP_011537074.1:p.Ser4669Ter", "hgvsWellDefined": "XP_011537074.1:p.Ser4669_Asn5553delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105726" }, { "coordinates": [ { "allele": "G", "end": 15303, "referenceAllele": "C", "start": 15302 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538773.1:c.14003C>G" ], "proteinEffect": { "hgvs": "XP_011537075.1:p.Ser4668Ter", "hgvsWellDefined": "XP_011537075.1:p.Ser4668_Asn5552delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105727" }, { "coordinates": [ { "allele": "G", "end": 15296, "referenceAllele": "C", "start": 15295 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538774.1:c.13994C>G" ], "proteinEffect": { "hgvs": "XP_011537076.1:p.Ser4665Ter", "hgvsWellDefined": "XP_011537076.1:p.Ser4665_Asn5549delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105728" }, { "coordinates": [ { "allele": "G", "end": 15253, "referenceAllele": "C", "start": 15252 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538775.1:c.13949C>G" ], "proteinEffect": { "hgvs": "XP_011537077.1:p.Ser4650Ter", "hgvsWellDefined": "XP_011537077.1:p.Ser4650_Asn5534delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105729" }, { "coordinates": [ { "allele": "G", "end": 15223, "referenceAllele": "C", "start": 15222 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538776.1:c.13922C>G" ], "proteinEffect": { "hgvs": "XP_011537078.1:p.Ser4641Ter", "hgvsWellDefined": "XP_011537078.1:p.Ser4641_Asn5525delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105730" }, { "coordinates": [ { "allele": "G", "end": 16335, "referenceAllele": "C", "start": 16334 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XR_944740.1:n.16335C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS138562" }, { "coordinates": [ { "allele": "G", "end": 15285, "referenceAllele": "C", "start": 15284 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_005269162.4:c.14006C>G" ], "proteinEffect": { "hgvs": "XP_005269219.1:p.Ser4669Ter", "hgvsWellDefined": "XP_005269219.1:p.Ser4669_Asn5537delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536724" }, { "coordinates": [ { "allele": "G", "end": 15295, "referenceAllele": "C", "start": 15294 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719614.4:c.14015C>G" ], "proteinEffect": { "hgvs": "XP_006719677.1:p.Ser4672Ter", "hgvsWellDefined": "XP_006719677.1:p.Ser4672_Asn5540delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539912" }, { "coordinates": [ { "allele": "G", "end": 15282, "referenceAllele": "C", "start": 15281 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719616.3:c.14003C>G" ], "proteinEffect": { "hgvs": "XP_006719679.1:p.Ser4668Ter", "hgvsWellDefined": "XP_006719679.1:p.Ser4668_Asn5536delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539913" }, { "coordinates": [ { "allele": "G", "end": 15297, "referenceAllele": "C", "start": 15296 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538770.2:c.14015C>G" ], "proteinEffect": { "hgvs": "XP_011537072.1:p.Ser4672Ter", "hgvsWellDefined": "XP_011537072.1:p.Ser4672_Asn5556delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553412" }, { "coordinates": [ { "allele": "G", "end": 15294, "referenceAllele": "C", "start": 15293 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538771.2:c.14012C>G" ], "proteinEffect": { "hgvs": "XP_011537073.1:p.Ser4671Ter", "hgvsWellDefined": "XP_011537073.1:p.Ser4671_Asn5555delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553413" }, { "coordinates": [ { "allele": "G", "end": 15288, "referenceAllele": "C", "start": 15287 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538772.2:c.14006C>G" ], "proteinEffect": { "hgvs": "XP_011537074.1:p.Ser4669Ter", "hgvsWellDefined": "XP_011537074.1:p.Ser4669_Asn5553delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553414" }, { "coordinates": [ { "allele": "G", "end": 15285, "referenceAllele": "C", "start": 15284 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538773.2:c.14003C>G" ], "proteinEffect": { "hgvs": "XP_011537075.1:p.Ser4668Ter", "hgvsWellDefined": "XP_011537075.1:p.Ser4668_Asn5552delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553415" }, { "coordinates": [ { "allele": "G", "end": 15277, "referenceAllele": "C", "start": 15276 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538774.2:c.13994C>G" ], "proteinEffect": { "hgvs": "XP_011537076.1:p.Ser4665Ter", "hgvsWellDefined": "XP_011537076.1:p.Ser4665_Asn5549delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553416" }, { "coordinates": [ { "allele": "G", "end": 15204, "referenceAllele": "C", "start": 15203 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538776.2:c.13922C>G" ], "proteinEffect": { "hgvs": "XP_011537078.1:p.Ser4641Ter", "hgvsWellDefined": "XP_011537078.1:p.Ser4641_Asn5525delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553417" }, { "coordinates": [ { "allele": "G", "end": 15324, "referenceAllele": "C", "start": 15323 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XR_001748874.1:n.15324C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS596813" }, { "@id": "http://reg.genome.network/allele/PA2580284964", "coordinates": [ { "allele": "G", "end": 15225, "referenceAllele": "C", "start": 15224 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "NM_003482.4:c.14006C>G" ], "proteinEffect": { "hgvs": "NP_003473.3:p.Ser4669Ter", "hgvsWellDefined": "NP_003473.3:p.Ser4669_Asn5537delinsGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695846", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301067.12:c.14006C>G" }, "RefSeq": { "hgvs": "NM_003482.4:c.14006C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301067.7:p.Ser4669Ter" }, "RefSeq": { "hgvs": "NP_003473.3:p.Ser4669Ter" } } } } ], "type": "nucleotide" }