{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA384703106", "communityStandardTitle": [ "NM_003482.4(KMT2D):c.13660C>T (p.Gln4554Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=969809[alleleid]", "alleleId": 969809, "preferredName": "NM_003482.4(KMT2D):c.13660C>T (p.Gln4554Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/981788", "RCV": [ "RCV001261343" ], "variationId": 981788 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.49424687G>A?assembly=hg19", "id": "chr12:g.49424687G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.49030904G>A?assembly=hg38", "id": "chr12:g.49030904G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1942873615", "rs": 1942873615 } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 49030904, "referenceAllele": "G", "start": 49030903 } ], "hgvs": [ "NC_000012.12:g.49030904G>A", "CM000674.2:g.49030904G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 49424687, "referenceAllele": "G", "start": 49424686 } ], "hgvs": [ "NC_000012.11:g.49424687G>A", "CM000674.1:g.49424687G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 47710954, "referenceAllele": "G", "start": 47710953 } ], "hgvs": [ "NC_000012.10:g.47710954G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 29421, "referenceAllele": "C", "start": 29420 } ], "hgvs": [ "NG_027827.1:g.29421C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003992" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 360, "referenceAllele": "C", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000552391.2:n.360C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825987" }, { "coordinates": [ { "allele": "T", "end": 14879, "referenceAllele": "C", "start": 14878 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000683543.2:c.13660C>T" ], "proteinEffect": { "hgvs": "ENSP00000506726.1:p.Gln4554Ter", "hgvsWellDefined": "ENSP00000506726.1:p.Gln4554_Asn5553delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828517" }, { "coordinates": [ { "allele": "T", "end": 13669, "referenceAllele": "C", "start": 13668 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000685166.1:c.13669C>T" ], "proteinEffect": { "hgvs": "ENSP00000509386.1:p.Gln4557Ter", "hgvsWellDefined": "ENSP00000509386.1:p.Gln4557_Asn5540delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829915" }, { "coordinates": [ { "allele": "T", "end": 138, "endIntronDirection": "-", "endIntronOffset": 135, "referenceAllele": "C", "start": 138, "startIntronDirection": "-", "startIntronOffset": 136 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000685982.1:c.139-136C>T" ], "proteinEffect": { "hgvs": "ENSP00000508613.1:n.139-136C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS830339" }, { "coordinates": [ { "allele": "T", "end": 138, "endIntronDirection": "+", "endIntronOffset": 271, "referenceAllele": "C", "start": 138, "startIntronDirection": "+", "startIntronOffset": 270 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000691986.1:c.138+271C>T" ], "proteinEffect": { "hgvs": "ENSP00000509196.1:n.138+271C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS833480" }, { "coordinates": [ { "allele": "T", "end": 13657, "referenceAllele": "C", "start": 13656 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000692637.1:c.13657C>T" ], "proteinEffect": { "hgvs": "ENSP00000509666.1:p.Gln4553Ter", "hgvsWellDefined": "ENSP00000509666.1:p.Gln4553_Asn5536delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833805" }, { "coordinates": [ { "allele": "T", "end": 261, "referenceAllele": "C", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000692973.1:c.261C>T" ], "proteinEffect": { "hgvs": "ENSP00000508893.1:n.261C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS833995" }, { "coordinates": [ { "allele": "T", "end": 14879, "referenceAllele": "C", "start": 14878 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000301067.12:c.13660C>T" ], "proteinEffect": { "hgvs": "ENSP00000301067.7:p.Gln4554Ter", "hgvsWellDefined": "ENSP00000301067.7:p.Gln4554_Asn5537delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744808", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301067.12:c.13660C>T" }, "RefSeq": { "hgvs": "NM_003482.4:c.13660C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301067.7:p.Gln4554Ter" }, "RefSeq": { "hgvs": "NP_003473.3:p.Gln4554Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 13660, "referenceAllele": "C", "start": 13659 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000301067.11:c.13660C>T" ], "proteinEffect": { "hgvs": "ENSP00000301067.7:p.Gln4554Ter", "hgvsWellDefined": "ENSP00000301067.7:p.Gln4554_Asn5537delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254955" }, { "coordinates": [ { "allele": "T", "end": 360, "referenceAllele": "C", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000552391.1:n.360C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS369224" }, { "@id": "http://reg.genome.network/allele/PA1139713357", "coordinates": [ { "allele": "T", "end": 13660, "referenceAllele": "C", "start": 13659 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "NM_003482.3:c.13660C>T" ], "proteinEffect": { "hgvs": "NP_003473.3:p.Gln4554Ter", "hgvsWellDefined": "NP_003473.3:p.Gln4554_Asn5537delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028721" }, { "coordinates": [ { "allele": "T", "end": 14954, "referenceAllele": "C", "start": 14953 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_005269162.3:c.13660C>T" ], "proteinEffect": { "hgvs": "XP_005269219.1:p.Gln4554Ter", "hgvsWellDefined": "XP_005269219.1:p.Gln4554_Asn5537delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066041" }, { "coordinates": [ { "allele": "T", "end": 14963, "referenceAllele": "C", "start": 14962 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719614.2:c.13669C>T" ], "proteinEffect": { "hgvs": "XP_006719677.1:p.Gln4557Ter", "hgvsWellDefined": "XP_006719677.1:p.Gln4557_Asn5540delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073234" }, { "coordinates": [ { "allele": "T", "end": 14950, "referenceAllele": "C", "start": 14949 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719616.2:c.13657C>T" ], "proteinEffect": { "hgvs": "XP_006719679.1:p.Gln4553Ter", "hgvsWellDefined": "XP_006719679.1:p.Gln4553_Asn5536delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073235" }, { "coordinates": [ { "allele": "T", "end": 14970, "referenceAllele": "C", "start": 14969 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538770.1:c.13669C>T" ], "proteinEffect": { "hgvs": "XP_011537072.1:p.Gln4557Ter", "hgvsWellDefined": "XP_011537072.1:p.Gln4557_Asn5556delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105724" }, { "coordinates": [ { "allele": "T", "end": 14967, "referenceAllele": "C", "start": 14966 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538771.1:c.13666C>T" ], "proteinEffect": { "hgvs": "XP_011537073.1:p.Gln4556Ter", "hgvsWellDefined": "XP_011537073.1:p.Gln4556_Asn5555delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105725" }, { "coordinates": [ { "allele": "T", "end": 14960, "referenceAllele": "C", "start": 14959 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538772.1:c.13660C>T" ], "proteinEffect": { "hgvs": "XP_011537074.1:p.Gln4554Ter", "hgvsWellDefined": "XP_011537074.1:p.Gln4554_Asn5553delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105726" }, { "coordinates": [ { "allele": "T", "end": 14957, "referenceAllele": "C", "start": 14956 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538773.1:c.13657C>T" ], "proteinEffect": { "hgvs": "XP_011537075.1:p.Gln4553Ter", "hgvsWellDefined": "XP_011537075.1:p.Gln4553_Asn5552delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105727" }, { "coordinates": [ { "allele": "T", "end": 14950, "referenceAllele": "C", "start": 14949 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538774.1:c.13648C>T" ], "proteinEffect": { "hgvs": "XP_011537076.1:p.Gln4550Ter", "hgvsWellDefined": "XP_011537076.1:p.Gln4550_Asn5549delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105728" }, { "coordinates": [ { "allele": "T", "end": 14973, "referenceAllele": "C", "start": 14972 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538775.1:c.13669C>T" ], "proteinEffect": { "hgvs": "XP_011537077.1:p.Gln4557Ter", "hgvsWellDefined": "XP_011537077.1:p.Gln4557_Asn5534delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105729" }, { "coordinates": [ { "allele": "T", "end": 14877, "referenceAllele": "C", "start": 14876 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538776.1:c.13576C>T" ], "proteinEffect": { "hgvs": "XP_011537078.1:p.Gln4526Ter", "hgvsWellDefined": "XP_011537078.1:p.Gln4526_Asn5525delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105730" }, { "coordinates": [ { "allele": "T", "end": 15989, "referenceAllele": "C", "start": 15988 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XR_944740.1:n.15989C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS138562" }, { "coordinates": [ { "allele": "T", "end": 14939, "referenceAllele": "C", "start": 14938 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_005269162.4:c.13660C>T" ], "proteinEffect": { "hgvs": "XP_005269219.1:p.Gln4554Ter", "hgvsWellDefined": "XP_005269219.1:p.Gln4554_Asn5537delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536724" }, { "coordinates": [ { "allele": "T", "end": 14949, "referenceAllele": "C", "start": 14948 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719614.4:c.13669C>T" ], "proteinEffect": { "hgvs": "XP_006719677.1:p.Gln4557Ter", "hgvsWellDefined": "XP_006719677.1:p.Gln4557_Asn5540delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539912" }, { "coordinates": [ { "allele": "T", "end": 14936, "referenceAllele": "C", "start": 14935 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719616.3:c.13657C>T" ], "proteinEffect": { "hgvs": "XP_006719679.1:p.Gln4553Ter", "hgvsWellDefined": "XP_006719679.1:p.Gln4553_Asn5536delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539913" }, { "coordinates": [ { "allele": "T", "end": 14951, "referenceAllele": "C", "start": 14950 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538770.2:c.13669C>T" ], "proteinEffect": { "hgvs": "XP_011537072.1:p.Gln4557Ter", "hgvsWellDefined": "XP_011537072.1:p.Gln4557_Asn5556delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553412" }, { "coordinates": [ { "allele": "T", "end": 14948, "referenceAllele": "C", "start": 14947 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538771.2:c.13666C>T" ], "proteinEffect": { "hgvs": "XP_011537073.1:p.Gln4556Ter", "hgvsWellDefined": "XP_011537073.1:p.Gln4556_Asn5555delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553413" }, { "coordinates": [ { "allele": "T", "end": 14942, "referenceAllele": "C", "start": 14941 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538772.2:c.13660C>T" ], "proteinEffect": { "hgvs": "XP_011537074.1:p.Gln4554Ter", "hgvsWellDefined": "XP_011537074.1:p.Gln4554_Asn5553delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553414" }, { "coordinates": [ { "allele": "T", "end": 14939, "referenceAllele": "C", "start": 14938 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538773.2:c.13657C>T" ], "proteinEffect": { "hgvs": "XP_011537075.1:p.Gln4553Ter", "hgvsWellDefined": "XP_011537075.1:p.Gln4553_Asn5552delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553415" }, { "coordinates": [ { "allele": "T", "end": 14931, "referenceAllele": "C", "start": 14930 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538774.2:c.13648C>T" ], "proteinEffect": { "hgvs": "XP_011537076.1:p.Gln4550Ter", "hgvsWellDefined": "XP_011537076.1:p.Gln4550_Asn5549delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553416" }, { "coordinates": [ { "allele": "T", "end": 14858, "referenceAllele": "C", "start": 14857 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538776.2:c.13576C>T" ], "proteinEffect": { "hgvs": "XP_011537078.1:p.Gln4526Ter", "hgvsWellDefined": "XP_011537078.1:p.Gln4526_Asn5525delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553417" }, { "coordinates": [ { "allele": "T", "end": 14978, "referenceAllele": "C", "start": 14977 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XR_001748874.1:n.14978C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596813" }, { "@id": "http://reg.genome.network/allele/PA1139713357", "coordinates": [ { "allele": "T", "end": 14879, "referenceAllele": "C", "start": 14878 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "NM_003482.4:c.13660C>T" ], "proteinEffect": { "hgvs": "NP_003473.3:p.Gln4554Ter", "hgvsWellDefined": "NP_003473.3:p.Gln4554_Asn5537delinsLeuLysGlnGluLeuSerLeuLeuProLeuThrGluProAlaIleThrAlaAsnPheSerLeuPheAlaProPheGlySerGlyCysProValAsnGlyGlnSerGlnLeuArgGlyAlaPheGlySerGlyAlaLeuProThrGlyProAspTyrTyrSerGlnLeuLeuThrLysAsnAsnLeuSerAsnProProThrProProSerSerLeuProProThrProProProSerValGlnGlnLysMetValAsnGlyValThrProSerGluGluLeuGlyGluHisProLysAspAlaAlaSerAlaArgAspSerGluArgAlaLeuArgAspThrSerGluValLysSerLeuAspLeuLeuAlaAlaLeuProThrProProHisAsnGlnThrGluAspValArgMetGluSerAspGluAspSerAspSerProAspSerIleValProAlaSerSerProGluSerIleLeuGlyGluGluAlaProArgPheProHisLeuGlySerGlyArgTrpGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695846", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301067.12:c.13660C>T" }, "RefSeq": { "hgvs": "NM_003482.4:c.13660C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301067.7:p.Gln4554Ter" }, "RefSeq": { "hgvs": "NP_003473.3:p.Gln4554Ter" } } } } ], "type": "nucleotide" }