{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA384701705", "communityStandardTitle": [ "NM_003482.4(KMT2D):c.13818C>G (p.Tyr4606Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5732585", "active": true, "id": "COSM5732585" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5732586", "active": true, "id": "COSM5732586" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513611[alleleid]", "alleleId": 513611, "preferredName": "NM_003482.4(KMT2D):c.13818C>G (p.Tyr4606Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/523017", "RCV": [ "RCV000626219", "RCV001388480" ], "variationId": 523017 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.49424405G>C?assembly=hg19", "id": "chr12:g.49424405G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.49030622G>C?assembly=hg38", "id": "chr12:g.49030622G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1555187117", "rs": 1555187117 } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "C", "end": 49030622, "referenceAllele": "G", "start": 49030621 } ], "hgvs": [ "NC_000012.12:g.49030622G>C", "CM000674.2:g.49030622G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "C", "end": 49424405, "referenceAllele": "G", "start": 49424404 } ], "hgvs": [ "NC_000012.11:g.49424405G>C", "CM000674.1:g.49424405G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "C", "end": 47710672, "referenceAllele": "G", "start": 47710671 } ], "hgvs": [ "NC_000012.10:g.47710672G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "G", "end": 29703, "referenceAllele": "C", "start": 29702 } ], "hgvs": [ "NG_027827.1:g.29703C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS003992" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 518, "referenceAllele": "C", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000552391.2:n.518C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS825987" }, { "coordinates": [ { "allele": "G", "end": 15037, "referenceAllele": "C", "start": 15036 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000683543.2:c.13818C>G" ], "proteinEffect": { "hgvs": "ENSP00000506726.1:p.Tyr4606Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS828517" }, { "coordinates": [ { "allele": "G", "end": 13827, "referenceAllele": "C", "start": 13826 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000685166.1:c.13827C>G" ], "proteinEffect": { "hgvs": "ENSP00000509386.1:p.Tyr4609Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS829915" }, { "coordinates": [ { "allele": "G", "end": 147, "referenceAllele": "C", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000685979.1:c.147C>G" ], "proteinEffect": { "hgvs": "ENSP00000508906.1:p.Tyr49Ter", "hgvsWellDefined": "ENSP00000508906.1:p.Tyr49Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS830338" }, { "coordinates": [ { "allele": "G", "end": 285, "referenceAllele": "C", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000685982.1:c.285C>G" ], "proteinEffect": { "hgvs": "ENSP00000508613.1:p.Tyr95Ter", "hgvsWellDefined": "ENSP00000508613.1:p.Tyr95_Lys102del" }, "referenceSequence": "http://reg.genome.network/refseq/RS830339" }, { "coordinates": [ { "allele": "G", "end": 147, "referenceAllele": "C", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000686564.1:c.147C>G" ], "proteinEffect": { "hgvs": "ENSP00000509290.1:p.Tyr49Ter", "hgvsWellDefined": "ENSP00000509290.1:p.Tyr49Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS830631" }, { "coordinates": [ { "allele": "G", "end": 138, "endIntronDirection": "-", "endIntronOffset": 182, "referenceAllele": "C", "start": 138, "startIntronDirection": "-", "startIntronOffset": 183 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000691986.1:c.139-183C>G" ], "proteinEffect": { "hgvs": "ENSP00000509196.1:n.139-183C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS833480" }, { "coordinates": [ { "allele": "G", "end": 13815, "referenceAllele": "C", "start": 13814 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS833805" }, { "coordinates": [ { "allele": "G", "end": 419, "referenceAllele": "C", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000692973.1:c.419C>G" ], "proteinEffect": { "hgvs": "ENSP00000508893.1:n.419C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS833995" }, { "coordinates": [ { "allele": "G", "end": 15037, "referenceAllele": "C", "start": 15036 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000301067.12:c.13818C>G" ], "proteinEffect": { "hgvs": "ENSP00000301067.7:p.Tyr4606Ter", "hgvsWellDefined": "ENSP00000301067.7:p.Tyr4607_Asn5537delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744808", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301067.12:c.13818C>G" }, "RefSeq": { "hgvs": "NM_003482.4:c.13818C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301067.7:p.Tyr4606Ter" }, "RefSeq": { "hgvs": "NP_003473.3:p.Tyr4606Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 13818, "referenceAllele": "C", "start": 13817 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000301067.11:c.13818C>G" ], "proteinEffect": { "hgvs": "ENSP00000301067.7:p.Tyr4606Ter", "hgvsWellDefined": "ENSP00000301067.7:p.Tyr4607_Asn5537delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254955" }, { "coordinates": [ { "allele": "G", "end": 518, "referenceAllele": "C", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000552391.1:n.518C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS369224" }, { "@id": "http://reg.genome.network/allele/PA658810211", "coordinates": [ { "allele": "G", "end": 13818, "referenceAllele": "C", "start": 13817 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "NM_003482.3:c.13818C>G" ], "proteinEffect": { "hgvs": "NP_003473.3:p.Tyr4606Ter", "hgvsWellDefined": "NP_003473.3:p.Tyr4607_Asn5537delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028721" }, { "coordinates": [ { "allele": "G", "end": 15112, "referenceAllele": "C", "start": 15111 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_005269162.3:c.13818C>G" ], "proteinEffect": { "hgvs": "XP_005269219.1:p.Tyr4606Ter", "hgvsWellDefined": "XP_005269219.1:p.Tyr4607_Asn5537delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066041" }, { "coordinates": [ { "allele": "G", "end": 15121, "referenceAllele": "C", "start": 15120 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719614.2:c.13827C>G" ], "proteinEffect": { "hgvs": "XP_006719677.1:p.Tyr4609Ter", "hgvsWellDefined": "XP_006719677.1:p.Tyr4610_Asn5540delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073234" }, { "coordinates": [ { "allele": "G", "end": 15108, "referenceAllele": "C", "start": 15107 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719616.2:c.13815C>G" ], "proteinEffect": { "hgvs": "XP_006719679.1:p.Tyr4605Ter", "hgvsWellDefined": "XP_006719679.1:p.Tyr4606_Asn5536delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073235" }, { "coordinates": [ { "allele": "G", "end": 15128, "referenceAllele": "C", "start": 15127 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538770.1:c.13827C>G" ], "proteinEffect": { "hgvs": "XP_011537072.1:p.Tyr4609Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS105724" }, { "coordinates": [ { "allele": "G", "end": 15125, "referenceAllele": "C", "start": 15124 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538771.1:c.13824C>G" ], "proteinEffect": { "hgvs": "XP_011537073.1:p.Tyr4608Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS105725" }, { "coordinates": [ { "allele": "G", "end": 15118, "referenceAllele": "C", "start": 15117 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538772.1:c.13818C>G" ], "proteinEffect": { "hgvs": "XP_011537074.1:p.Tyr4606Ter", "hgvsWellDefined": "XP_011537074.1:p.Tyr4607_Asn5553delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105726" }, { "coordinates": [ { "allele": "G", "end": 15115, "referenceAllele": "C", "start": 15114 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538773.1:c.13815C>G" ], "proteinEffect": { "hgvs": "XP_011537075.1:p.Tyr4605Ter", "hgvsWellDefined": "XP_011537075.1:p.Tyr4606_Asn5552delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105727" }, { "coordinates": [ { "allele": "G", "end": 15108, "referenceAllele": "C", "start": 15107 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538774.1:c.13806C>G" ], "proteinEffect": { "hgvs": "XP_011537076.1:p.Tyr4602Ter", "hgvsWellDefined": "XP_011537076.1:p.Tyr4603_Asn5549delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105728" }, { "coordinates": [ { "allele": "G", "end": 15131, "referenceAllele": "C", "start": 15130 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538775.1:c.13827C>G" ], "proteinEffect": { "hgvs": "XP_011537077.1:p.Tyr4609Ter", "hgvsWellDefined": "XP_011537077.1:p.Tyr4610_Asn5534delinsSerGlnLeuLeuThrLysGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105729" }, { "coordinates": [ { "allele": "G", "end": 15035, "referenceAllele": "C", "start": 15034 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538776.1:c.13734C>G" ], "proteinEffect": { "hgvs": "XP_011537078.1:p.Tyr4578Ter", "hgvsWellDefined": "XP_011537078.1:p.Tyr4579_Asn5525delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105730" }, { "coordinates": [ { "allele": "G", "end": 16147, "referenceAllele": "C", "start": 16146 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XR_944740.1:n.16147C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS138562" }, { "coordinates": [ { "allele": "G", "end": 15097, "referenceAllele": "C", "start": 15096 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_005269162.4:c.13818C>G" ], "proteinEffect": { "hgvs": "XP_005269219.1:p.Tyr4606Ter", "hgvsWellDefined": "XP_005269219.1:p.Tyr4607_Asn5537delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536724" }, { "coordinates": [ { "allele": "G", "end": 15107, "referenceAllele": "C", "start": 15106 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719614.4:c.13827C>G" ], "proteinEffect": { "hgvs": "XP_006719677.1:p.Tyr4609Ter", "hgvsWellDefined": "XP_006719677.1:p.Tyr4610_Asn5540delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539912" }, { "coordinates": [ { "allele": "G", "end": 15094, "referenceAllele": "C", "start": 15093 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719616.3:c.13815C>G" ], "proteinEffect": { "hgvs": "XP_006719679.1:p.Tyr4605Ter", "hgvsWellDefined": "XP_006719679.1:p.Tyr4606_Asn5536delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539913" }, { "coordinates": [ { "allele": "G", "end": 15109, "referenceAllele": "C", "start": 15108 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538770.2:c.13827C>G" ], "proteinEffect": { "hgvs": "XP_011537072.1:p.Tyr4609Ter", "hgvsWellDefined": "XP_011537072.1:p.Tyr4610_Asn5556delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553412" }, { "coordinates": [ { "allele": "G", "end": 15106, "referenceAllele": "C", "start": 15105 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538771.2:c.13824C>G" ], "proteinEffect": { "hgvs": "XP_011537073.1:p.Tyr4608Ter", "hgvsWellDefined": "XP_011537073.1:p.Tyr4609_Asn5555delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553413" }, { "coordinates": [ { "allele": "G", "end": 15100, "referenceAllele": "C", "start": 15099 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538772.2:c.13818C>G" ], "proteinEffect": { "hgvs": "XP_011537074.1:p.Tyr4606Ter", "hgvsWellDefined": "XP_011537074.1:p.Tyr4607_Asn5553delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553414" }, { "coordinates": [ { "allele": "G", "end": 15097, "referenceAllele": "C", "start": 15096 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538773.2:c.13815C>G" ], "proteinEffect": { "hgvs": "XP_011537075.1:p.Tyr4605Ter", "hgvsWellDefined": "XP_011537075.1:p.Tyr4606_Asn5552delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553415" }, { "coordinates": [ { "allele": "G", "end": 15089, "referenceAllele": "C", "start": 15088 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538774.2:c.13806C>G" ], "proteinEffect": { "hgvs": "XP_011537076.1:p.Tyr4602Ter", "hgvsWellDefined": "XP_011537076.1:p.Tyr4603_Asn5549delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553416" }, { "coordinates": [ { "allele": "G", "end": 15016, "referenceAllele": "C", "start": 15015 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538776.2:c.13734C>G" ], "proteinEffect": { "hgvs": "XP_011537078.1:p.Tyr4578Ter", "hgvsWellDefined": "XP_011537078.1:p.Tyr4579_Asn5525delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553417" }, { "coordinates": [ { "allele": "G", "end": 15136, "referenceAllele": "C", "start": 15135 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XR_001748874.1:n.15136C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS596813" }, { "@id": "http://reg.genome.network/allele/PA658810211", "coordinates": [ { "allele": "G", "end": 15037, "referenceAllele": "C", "start": 15036 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "NM_003482.4:c.13818C>G" ], "proteinEffect": { "hgvs": "NP_003473.3:p.Tyr4606Ter", "hgvsWellDefined": "NP_003473.3:p.Tyr4607_Asn5537delinsSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695846", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301067.12:c.13818C>G" }, "RefSeq": { "hgvs": "NM_003482.4:c.13818C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301067.7:p.Tyr4606Ter" }, "RefSeq": { "hgvs": "NP_003473.3:p.Tyr4606Ter" } } } } ], "type": "nucleotide" }