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}, "referenceSequence": "http://reg.genome.network/refseq/RS833805" }, { "coordinates": [ { "allele": "A", "end": 15409, "referenceAllele": "G", "start": 15408 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000301067.12:c.14190G>A" ], "proteinEffect": { "hgvs": "ENSP00000301067.7:p.Trp4730Ter", "hgvsWellDefined": "ENSP00000301067.7:p.Trp4730_Asn5537delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744808", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301067.12:c.14190G>A" }, "RefSeq": { "hgvs": "NM_003482.4:c.14190G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301067.7:p.Trp4730Ter" }, "RefSeq": { "hgvs": "NP_003473.3:p.Trp4730Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 14190, "referenceAllele": "G", "start": 14189 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000301067.11:c.14190G>A" ], "proteinEffect": { "hgvs": "ENSP00000301067.7:p.Trp4730Ter", "hgvsWellDefined": "ENSP00000301067.7:p.Trp4730_Asn5537delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254955" }, { "@id": "http://reg.genome.network/allele/PA658830551", "coordinates": [ { "allele": "A", "end": 14190, "referenceAllele": "G", "start": 14189 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "NM_003482.3:c.14190G>A" ], "proteinEffect": { "hgvs": "NP_003473.3:p.Trp4730Ter", "hgvsWellDefined": "NP_003473.3:p.Trp4730_Asn5537delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028721" }, { "coordinates": [ { "allele": "A", "end": 15484, "referenceAllele": "G", "start": 15483 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_005269162.3:c.14190G>A" ], "proteinEffect": { "hgvs": "XP_005269219.1:p.Trp4730Ter", "hgvsWellDefined": "XP_005269219.1:p.Trp4730_Asn5537delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066041" }, { "coordinates": [ { "allele": "A", "end": 15493, "referenceAllele": "G", "start": 15492 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719614.2:c.14199G>A" ], "proteinEffect": { "hgvs": "XP_006719677.1:p.Trp4733Ter", "hgvsWellDefined": "XP_006719677.1:p.Trp4733_Asn5540delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073234" }, { "coordinates": [ { "allele": "A", "end": 15480, "referenceAllele": "G", "start": 15479 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719616.2:c.14187G>A" ], "proteinEffect": { "hgvs": "XP_006719679.1:p.Trp4729Ter", "hgvsWellDefined": "XP_006719679.1:p.Trp4729_Asn5536delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073235" }, { "coordinates": [ { "allele": "A", "end": 15500, "referenceAllele": "G", "start": 15499 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538770.1:c.14199G>A" ], "proteinEffect": { "hgvs": "XP_011537072.1:p.Trp4733Ter", "hgvsWellDefined": "XP_011537072.1:p.Trp4733_Asn5556delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105724" }, { "coordinates": [ { "allele": "A", "end": 15497, "referenceAllele": "G", "start": 15496 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538771.1:c.14196G>A" ], "proteinEffect": { "hgvs": "XP_011537073.1:p.Trp4732Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS105725" }, { "coordinates": [ { "allele": "A", "end": 15490, "referenceAllele": "G", "start": 15489 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538772.1:c.14190G>A" ], "proteinEffect": { "hgvs": "XP_011537074.1:p.Trp4730Ter", "hgvsWellDefined": "XP_011537074.1:p.Trp4730_Asn5553delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105726" }, { "coordinates": [ { "allele": "A", "end": 15487, "referenceAllele": "G", "start": 15486 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538773.1:c.14187G>A" ], "proteinEffect": { "hgvs": "XP_011537075.1:p.Trp4729Ter", "hgvsWellDefined": "XP_011537075.1:p.Trp4729_Asn5552delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105727" }, { "coordinates": [ { "allele": "A", "end": 15480, "referenceAllele": "G", "start": 15479 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538774.1:c.14178G>A" ], "proteinEffect": { "hgvs": "XP_011537076.1:p.Trp4726Ter", "hgvsWellDefined": "XP_011537076.1:p.Trp4726_Asn5549delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105728" }, { "coordinates": [ { "allele": "A", "end": 15437, "referenceAllele": "G", "start": 15436 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538775.1:c.14133G>A" ], "proteinEffect": { "hgvs": "XP_011537077.1:p.Trp4711Ter", "hgvsWellDefined": "XP_011537077.1:p.Trp4711_Asn5534delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105729" }, { "coordinates": [ { "allele": "A", "end": 15407, "referenceAllele": "G", "start": 15406 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538776.1:c.14106G>A" ], "proteinEffect": { "hgvs": "XP_011537078.1:p.Trp4702Ter", "hgvsWellDefined": "XP_011537078.1:p.Trp4702_Asn5525delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105730" }, { "coordinates": [ { "allele": "A", "end": 16519, "referenceAllele": "G", "start": 16518 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XR_944740.1:n.16519G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS138562" }, { "coordinates": [ { "allele": "A", "end": 15469, "referenceAllele": "G", "start": 15468 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_005269162.4:c.14190G>A" ], "proteinEffect": { "hgvs": "XP_005269219.1:p.Trp4730Ter", "hgvsWellDefined": "XP_005269219.1:p.Trp4730_Asn5537delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536724" }, { "coordinates": [ { "allele": "A", "end": 15479, "referenceAllele": "G", "start": 15478 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719614.4:c.14199G>A" ], "proteinEffect": { "hgvs": "XP_006719677.1:p.Trp4733Ter", "hgvsWellDefined": "XP_006719677.1:p.Trp4733_Asn5540delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539912" }, { "coordinates": [ { "allele": "A", "end": 15466, "referenceAllele": "G", "start": 15465 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719616.3:c.14187G>A" ], "proteinEffect": { "hgvs": "XP_006719679.1:p.Trp4729Ter", "hgvsWellDefined": "XP_006719679.1:p.Trp4729_Asn5536delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539913" }, { "coordinates": [ { "allele": "A", "end": 15481, "referenceAllele": "G", "start": 15480 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538770.2:c.14199G>A" ], "proteinEffect": { "hgvs": "XP_011537072.1:p.Trp4733Ter", "hgvsWellDefined": "XP_011537072.1:p.Trp4733_Asn5556delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553412" }, { "coordinates": [ { "allele": "A", "end": 15478, "referenceAllele": "G", "start": 15477 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538771.2:c.14196G>A" ], "proteinEffect": { "hgvs": "XP_011537073.1:p.Trp4732Ter", "hgvsWellDefined": "XP_011537073.1:p.Trp4732_Asn5555delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553413" }, { "coordinates": [ { "allele": "A", "end": 15472, "referenceAllele": "G", "start": 15471 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538772.2:c.14190G>A" ], "proteinEffect": { "hgvs": "XP_011537074.1:p.Trp4730Ter", "hgvsWellDefined": "XP_011537074.1:p.Trp4730_Asn5553delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553414" }, { "coordinates": [ { "allele": "A", "end": 15469, "referenceAllele": "G", "start": 15468 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538773.2:c.14187G>A" ], "proteinEffect": { "hgvs": "XP_011537075.1:p.Trp4729Ter", "hgvsWellDefined": "XP_011537075.1:p.Trp4729_Asn5552delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553415" }, { "coordinates": [ { "allele": "A", "end": 15461, "referenceAllele": "G", "start": 15460 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538774.2:c.14178G>A" ], "proteinEffect": { "hgvs": "XP_011537076.1:p.Trp4726Ter", "hgvsWellDefined": "XP_011537076.1:p.Trp4726_Asn5549delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553416" }, { "coordinates": [ { "allele": "A", "end": 15388, "referenceAllele": "G", "start": 15387 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538776.2:c.14106G>A" ], "proteinEffect": { "hgvs": "XP_011537078.1:p.Trp4702Ter", "hgvsWellDefined": "XP_011537078.1:p.Trp4702_Asn5525delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553417" }, { "coordinates": [ { "allele": "A", "end": 15508, "referenceAllele": "G", "start": 15507 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XR_001748874.1:n.15508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596813" }, { "@id": "http://reg.genome.network/allele/PA658830551", "coordinates": [ { "allele": "A", "end": 15409, "referenceAllele": "G", "start": 15408 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "NM_003482.4:c.14190G>A" ], "proteinEffect": { "hgvs": "NP_003473.3:p.Trp4730Ter", "hgvsWellDefined": "NP_003473.3:p.Trp4730_Asn5537delinsGluGlnGluAspArgAlaLeuSerProValIleProLeuIleProArgAlaSerIleProValPheProAspThrLysProTyrGlyAlaLeuGlyLeuGluValProGlyLysLeuProValThrThrTrpGluLysGlyLysGlySerGluValSerValMetLeuThrValSerAlaAlaAlaAlaLysAsnLeuAsnGlyValMetValAlaValAlaGluLeuLeuSerMetLysIleProAsnSerTyrGluValLeuPheProGluSerProAlaArgAlaGlyThrGluProLysLysGlyGluAlaGluGlyProGlyGlyLysGluLysGlyLeuGluGlyLysSerProAspThrGlyProAspTrpLeuLysGlnPheAspAlaValLeuProGlyTyrThrLeuLysSerGlnLeuAspIleLeuSerLeuLeuLysGlnGluSerProAlaProGluProProThrGlnHisSerTyrThrTyrAsnValSerAsnLeuAspValArgGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695846", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301067.12:c.14190G>A" }, "RefSeq": { "hgvs": "NM_003482.4:c.14190G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301067.7:p.Trp4730Ter" }, "RefSeq": { "hgvs": "NP_003473.3:p.Trp4730Ter" } } } } ], "type": "nucleotide" }