{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA271598", "communityStandardTitle": [ "NM_003482.4(KMT2D):c.15195G>A (p.Trp5065Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6205641", "active": true, "id": "COSM6205641" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6205642", "active": true, "id": "COSM6205642" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168908[alleleid]", "alleleId": 168908, "preferredName": "NM_003482.4(KMT2D):c.15195G>A (p.Trp5065Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158735", "RCV": [ "RCV000146175" ], "variationId": 158735 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.49420554C>T?assembly=hg19", "id": "chr12:g.49420554C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.49026771C>T?assembly=hg38", "id": "chr12:g.49026771C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587783696", "rs": 587783696 } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 49026771, "referenceAllele": "C", "start": 49026770 } ], "hgvs": [ "NC_000012.12:g.49026771C>T", "CM000674.2:g.49026771C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 49420554, "referenceAllele": "C", "start": 49420553 } ], "hgvs": [ "NC_000012.11:g.49420554C>T", "CM000674.1:g.49420554C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 47706821, "referenceAllele": "C", "start": 47706820 } ], "hgvs": [ "NC_000012.10:g.47706821C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "A", "end": 33554, "referenceAllele": "G", "start": 33553 } ], "hgvs": [ "NG_027827.1:g.33554G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003992" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 16414, "referenceAllele": "G", "start": 16413 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000683543.2:c.15195G>A" ], "proteinEffect": { "hgvs": "ENSP00000506726.1:p.Trp5065Ter", "hgvsWellDefined": "ENSP00000506726.1:p.Trp5065_Asn5553delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" 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"ENSP00000509386.1:p.Trp5068_Asn5540delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829915" }, { "coordinates": [ { "allele": "A", "end": 261, "endIntronDirection": "+", "endIntronOffset": 1032, "referenceAllele": "G", "start": 261, "startIntronDirection": "+", "startIntronOffset": 1031 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000688411.1:c.261+1032G>A" ], "proteinEffect": { "hgvs": "ENSP00000510146.1:n.261+1032G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831614" }, { "coordinates": [ { "allele": "A", "end": 581, "referenceAllele": "G", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000691463.1:c.581G>A" ], "proteinEffect": { "hgvs": "ENSP00000510624.1:n.581G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833231" }, { "coordinates": [ { "allele": "A", "end": 15192, "referenceAllele": "G", "start": 15191 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000692637.1:c.15192G>A" ], "proteinEffect": { "hgvs": "ENSP00000509666.1:p.Trp5064Ter", "hgvsWellDefined": "ENSP00000509666.1:p.Trp5064_Asn5536delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833805" }, { "coordinates": [ { "allele": "A", "end": 16414, "referenceAllele": "G", "start": 16413 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000301067.12:c.15195G>A" ], "proteinEffect": { "hgvs": "ENSP00000301067.7:p.Trp5065Ter", "hgvsWellDefined": "ENSP00000301067.7:p.Trp5065_Asn5537delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744808", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301067.12:c.15195G>A" }, "RefSeq": { "hgvs": "NM_003482.4:c.15195G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301067.7:p.Trp5065Ter" }, "RefSeq": { "hgvs": "NP_003473.3:p.Trp5065Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 15195, "referenceAllele": "G", "start": 15194 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000301067.11:c.15195G>A" ], "proteinEffect": { "hgvs": "ENSP00000301067.7:p.Trp5065Ter", "hgvsWellDefined": "ENSP00000301067.7:p.Trp5065_Asn5537delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254955" }, { "@id": "http://reg.genome.network/allele/PA271599", "coordinates": [ { "allele": "A", "end": 15195, "referenceAllele": "G", "start": 15194 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "NM_003482.3:c.15195G>A" ], "proteinEffect": { "hgvs": "NP_003473.3:p.Trp5065Ter", "hgvsWellDefined": "NP_003473.3:p.Trp5065_Asn5537delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028721" }, { "coordinates": [ { "allele": "A", "end": 16489, "referenceAllele": "G", "start": 16488 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_005269162.3:c.15195G>A" ], "proteinEffect": { "hgvs": "XP_005269219.1:p.Trp5065Ter", "hgvsWellDefined": "XP_005269219.1:p.Trp5065_Asn5537delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066041" }, { "coordinates": [ { "allele": "A", "end": 16498, "referenceAllele": "G", "start": 16497 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719614.2:c.15204G>A" ], "proteinEffect": { "hgvs": "XP_006719677.1:p.Trp5068Ter", "hgvsWellDefined": "XP_006719677.1:p.Trp5068_Asn5540delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073234" }, { "coordinates": [ { "allele": "A", "end": 16485, "referenceAllele": "G", "start": 16484 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719616.2:c.15192G>A" ], "proteinEffect": { "hgvs": "XP_006719679.1:p.Trp5064Ter", "hgvsWellDefined": "XP_006719679.1:p.Trp5064_Asn5536delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073235" }, { "coordinates": [ { "allele": "A", "end": 16505, "referenceAllele": "G", "start": 16504 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538770.1:c.15204G>A" ], "proteinEffect": { "hgvs": "XP_011537072.1:p.Trp5068Ter", "hgvsWellDefined": "XP_011537072.1:p.Trp5068_Asn5556delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105724" }, { "coordinates": [ { "allele": "A", "end": 16502, "referenceAllele": "G", "start": 16501 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538771.1:c.15201G>A" ], "proteinEffect": { "hgvs": "XP_011537073.1:p.Trp5067Ter", "hgvsWellDefined": "XP_011537073.1:p.Trp5067_Asn5555delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105725" }, { "coordinates": [ { "allele": "A", "end": 16495, "referenceAllele": "G", "start": 16494 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538772.1:c.15195G>A" ], "proteinEffect": { "hgvs": "XP_011537074.1:p.Trp5065Ter", "hgvsWellDefined": "XP_011537074.1:p.Trp5065_Asn5553delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105726" }, { "coordinates": [ { "allele": "A", "end": 16492, "referenceAllele": "G", "start": 16491 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538773.1:c.15192G>A" ], "proteinEffect": { "hgvs": "XP_011537075.1:p.Trp5064Ter", "hgvsWellDefined": "XP_011537075.1:p.Trp5064_Asn5552delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105727" }, { "coordinates": [ { "allele": "A", "end": 16485, "referenceAllele": "G", "start": 16484 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538774.1:c.15183G>A" ], "proteinEffect": { "hgvs": "XP_011537076.1:p.Trp5061Ter", "hgvsWellDefined": "XP_011537076.1:p.Trp5061_Asn5549delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105728" }, { "coordinates": [ { "allele": "A", "end": 16442, "referenceAllele": "G", "start": 16441 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538775.1:c.15138G>A" ], "proteinEffect": { "hgvs": "XP_011537077.1:p.Trp5046Ter", "hgvsWellDefined": "XP_011537077.1:p.Trp5046_Asn5534delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105729" }, { "coordinates": [ { "allele": "A", "end": 16412, "referenceAllele": "G", "start": 16411 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538776.1:c.15111G>A" ], "proteinEffect": { "hgvs": "XP_011537078.1:p.Trp5037Ter", "hgvsWellDefined": "XP_011537078.1:p.Trp5037_Asn5525delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105730" }, { "coordinates": [ { "allele": "A", "end": 16972, "endIntronDirection": "+", "endIntronOffset": 1032, "referenceAllele": "G", "start": 16972, "startIntronDirection": "+", "startIntronOffset": 1031 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XR_944740.1:n.16972+1032G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS138562" }, { "coordinates": [ { "allele": "A", "end": 16474, "referenceAllele": "G", "start": 16473 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_005269162.4:c.15195G>A" ], "proteinEffect": { "hgvs": "XP_005269219.1:p.Trp5065Ter", "hgvsWellDefined": "XP_005269219.1:p.Trp5065_Asn5537delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536724" }, { "coordinates": [ { "allele": "A", "end": 16484, "referenceAllele": "G", "start": 16483 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719614.4:c.15204G>A" ], "proteinEffect": { "hgvs": "XP_006719677.1:p.Trp5068Ter", "hgvsWellDefined": "XP_006719677.1:p.Trp5068_Asn5540delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539912" }, { "coordinates": [ { "allele": "A", "end": 16471, "referenceAllele": "G", "start": 16470 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719616.3:c.15192G>A" ], "proteinEffect": { "hgvs": "XP_006719679.1:p.Trp5064Ter", "hgvsWellDefined": "XP_006719679.1:p.Trp5064_Asn5536delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539913" }, { "coordinates": [ { "allele": "A", "end": 16486, "referenceAllele": "G", "start": 16485 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538770.2:c.15204G>A" ], "proteinEffect": { "hgvs": "XP_011537072.1:p.Trp5068Ter", "hgvsWellDefined": "XP_011537072.1:p.Trp5068_Asn5556delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553412" }, { "coordinates": [ { "allele": "A", "end": 16483, "referenceAllele": "G", "start": 16482 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538771.2:c.15201G>A" ], "proteinEffect": { "hgvs": "XP_011537073.1:p.Trp5067Ter", "hgvsWellDefined": "XP_011537073.1:p.Trp5067_Asn5555delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553413" }, { "coordinates": [ { "allele": "A", "end": 16477, "referenceAllele": "G", "start": 16476 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538772.2:c.15195G>A" ], "proteinEffect": { "hgvs": "XP_011537074.1:p.Trp5065Ter", "hgvsWellDefined": "XP_011537074.1:p.Trp5065_Asn5553delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553414" }, { "coordinates": [ { "allele": "A", "end": 16474, "referenceAllele": "G", "start": 16473 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538773.2:c.15192G>A" ], "proteinEffect": { "hgvs": "XP_011537075.1:p.Trp5064Ter", "hgvsWellDefined": "XP_011537075.1:p.Trp5064_Asn5552delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553415" }, { "coordinates": [ { "allele": "A", "end": 16466, "referenceAllele": "G", "start": 16465 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538774.2:c.15183G>A" ], "proteinEffect": { "hgvs": "XP_011537076.1:p.Trp5061Ter", "hgvsWellDefined": "XP_011537076.1:p.Trp5061_Asn5549delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553416" }, { "coordinates": [ { "allele": "A", "end": 16393, "referenceAllele": "G", "start": 16392 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538776.2:c.15111G>A" ], "proteinEffect": { "hgvs": "XP_011537078.1:p.Trp5037Ter", "hgvsWellDefined": "XP_011537078.1:p.Trp5037_Asn5525delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553417" }, { "coordinates": [ { "allele": "A", "end": 15961, "endIntronDirection": "+", "endIntronOffset": 1032, "referenceAllele": "G", "start": 15961, "startIntronDirection": "+", "startIntronOffset": 1031 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XR_001748874.1:n.15961+1032G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596813" }, { "@id": "http://reg.genome.network/allele/PA271599", "coordinates": [ { "allele": "A", "end": 16414, "referenceAllele": "G", "start": 16413 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "NM_003482.4:c.15195G>A" ], "proteinEffect": { "hgvs": "NP_003473.3:p.Trp5065Ter", "hgvsWellDefined": "NP_003473.3:p.Trp5065_Asn5537delinsSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695846", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301067.12:c.15195G>A" }, "RefSeq": { "hgvs": "NM_003482.4:c.15195G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301067.7:p.Trp5065Ter" }, "RefSeq": { "hgvs": "NP_003473.3:p.Trp5065Ter" } } } } ], "type": "nucleotide" }