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"ENSP00000300036.5:p.Lys1200_Glu1972delinsHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgArgGlyAsnGluThrSerPheValProSerArgArgSerGlyGlyArgArgValIleGluAsnAlaAspGlySerGluGluGluThrAspThrArgAspAlaAspPheAsnGlyThrLysAlaSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254812" }, { "coordinates": [ { "allele": "T", "end": 3707, "referenceAllele": "A", "start": 3706 } ], "gene": "http://reg.genome.network/gene/GN007569", "geneNCBI_id": 4629, "geneSymbol": "MYH11", "hgvs": [ "ENST00000396324.7:c.3619A>T" ], "proteinEffect": { "hgvs": "ENSP00000379616.3:p.Lys1207Ter", "hgvsWellDefined": "ENSP00000379616.3:p.Lys1207_Glu1979delinsHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgArgGlyAsnGluThrSerPheValProSerArgArgSerGlyGlyArgArgValIleGluAsnAlaAspGlySerGluGluGluThrAspThrArgAspAlaAspPheAsnGlyThrLysAlaSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277213" }, { "coordinates": [ { "allele": "T", "end": 3707, "referenceAllele": "A", "start": 3706 } ], "gene": "http://reg.genome.network/gene/GN007569", "geneNCBI_id": 4629, "geneSymbol": "MYH11", "hgvs": [ "ENST00000452625.6:c.3619A>T" ], "proteinEffect": { "hgvs": "ENSP00000407821.2:p.Lys1207Ter", "hgvsWellDefined": "ENSP00000407821.2:p.Lys1207_Gln1945delinsHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgGlyProProProGlnGluThrSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS301704" }, { "coordinates": [ { "allele": "T", "end": 3708, "referenceAllele": "A", "start": 3707 } ], "gene": "http://reg.genome.network/gene/GN007569", "geneNCBI_id": 4629, "geneSymbol": "MYH11", "hgvs": [ "ENST00000576790.6:c.3598A>T" ], "proteinEffect": { "hgvs": "ENSP00000458731.1:p.Lys1200Ter", "hgvsWellDefined": "ENSP00000458731.1:p.Lys1200_Gln1938delinsHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgGlyProProProGlnGluThrSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS384607" }, { "coordinates": [ { "allele": "T", "end": 3726, "referenceAllele": "A", "start": 3725 } ], "gene": "http://reg.genome.network/gene/GN007569", "geneNCBI_id": 4629, "geneSymbol": "MYH11", "hgvs": [ "ENST00000616439.4:c.3619A>T" ], "proteinEffect": { "hgvs": "ENSP00000484924.1:p.Lys1207Ter", "hgvsWellDefined": "ENSP00000484924.1:p.Lys1207_Thr2029delinsHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgGlyProProHisArgLysLeuArgSerAspAlaProGlyGluGluThrArgProLeuSerPheLeuLeuGluGlyLeuGluAspValGluLeuLeuLysMetGlnMetValLeuArgArgLysArgThrLeuGluThrGlnThrSerMetGluProArgProValAsnLysGlnLeuSerThrValLeuHisHisGlyLysLysThrLysAsnGlnAsnLysGlnThrLysLysThrGlnGlnGlnProArgThrLysGlnAsnProAlaAspCysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403059" }, { "@id": "http://reg.genome.network/allele/PA302649", "coordinates": [ { "allele": "T", "end": 3726, "referenceAllele": "A", "start": 3725 } ], "gene": "http://reg.genome.network/gene/GN007569", "geneNCBI_id": 4629, "geneSymbol": "MYH11", "hgvs": [ "NM_001040113.1:c.3619A>T" ], "proteinEffect": { "hgvs": "NP_001035202.1:p.Lys1207Ter", "hgvsWellDefined": "NP_001035202.1:p.Lys1207_Gln1945delinsHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgGlyProProProGlnGluThrSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009512" }, { "@id": "http://reg.genome.network/allele/PA915958683", "coordinates": [ { "allele": "T", "end": 3726, "referenceAllele": "A", "start": 3725 } ], "gene": "http://reg.genome.network/gene/GN007569", "geneNCBI_id": 4629, "geneSymbol": "MYH11", "hgvs": [ "NM_001040114.1:c.3619A>T" ], "proteinEffect": { "hgvs": "NP_001035203.1:p.Lys1207Ter", "hgvsWellDefined": "NP_001035203.1:p.Lys1207_Glu1979delinsHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgArgGlyAsnGluThrSerPheValProSerArgArgSerGlyGlyArgArgValIleGluAsnAlaAspGlySerGluGluGluThrAspThrArgAspAlaAspPheAsnGlyThrLysAlaSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009513" }, { "@id": "http://reg.genome.network/allele/PA2829397328", "coordinates": [ { "allele": "T", "end": 3705, "referenceAllele": "A", "start": 3704 } ], "gene": "http://reg.genome.network/gene/GN007569", "geneNCBI_id": 4629, "geneSymbol": "MYH11", "hgvs": [ "NM_002474.2:c.3598A>T" ], "proteinEffect": { "hgvs": "NP_002465.1:p.Lys1200Ter", "hgvsWellDefined": "NP_002465.1:p.Lys1200_Glu1972delinsHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgArgGlyAsnGluThrSerPheValProSerArgArgSerGlyGlyArgArgValIleGluAsnAlaAspGlySerGluGluGluThrAspThrArgAspAlaAspPheAsnGlyThrLysAlaSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027776" }, { "@id": "http://reg.genome.network/allele/PA302648", "coordinates": [ { "allele": "T", "end": 3705, "referenceAllele": "A", "start": 3704 } ], "gene": "http://reg.genome.network/gene/GN007569", "geneNCBI_id": 4629, "geneSymbol": "MYH11", "hgvs": [ "NM_022844.2:c.3598A>T" ], "proteinEffect": { "hgvs": "NP_074035.1:p.Lys1200Ter", "hgvsWellDefined": "NP_074035.1:p.Lys1200_Gln1938delinsHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgGlyProProProGlnGluThrSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037490" }, { "coordinates": [ { "allele": "T", "end": 3708, "referenceAllele": "A", "start": 3707 } ], "gene": "http://reg.genome.network/gene/GN007569", "geneNCBI_id": 4629, "geneSymbol": "MYH11", "hgvs": [ "XM_011522502.1:c.3598A>T" ], "proteinEffect": { "hgvs": "XP_011520804.1:p.Lys1200Ter", "hgvsWellDefined": "XP_011520804.1:p.Lys1200_Arg1929delinsHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089653" }, { "coordinates": [ { "allele": "T", "end": 3707, "referenceAllele": "A", "start": 3706 } ], "gene": "http://reg.genome.network/gene/GN007569", "geneNCBI_id": 4629, "geneSymbol": "MYH11", "hgvs": [ "XM_011522502.2:c.3598A>T" ], "proteinEffect": { "hgvs": "XP_011520804.1:p.Lys1200Ter", "hgvsWellDefined": "XP_011520804.1:p.Lys1200_Arg1929delinsHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546628" }, { "coordinates": [ { "allele": "T", "end": 3690, "referenceAllele": "A", "start": 3689 } ], "gene": "http://reg.genome.network/gene/GN007569", "geneNCBI_id": 4629, "geneSymbol": "MYH11", "hgvs": [ "XM_017023250.1:c.3619A>T" ], "proteinEffect": { "hgvs": "XP_016878739.1:p.Lys1207Ter", "hgvsWellDefined": "XP_016878739.1:p.Lys1207_Gln1945delinsHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgGlyProProProGlnGluThrSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574043" }, { "@id": "http://reg.genome.network/allele/PA2829397328", "coordinates": [ { "allele": "T", "end": 3703, "referenceAllele": "A", "start": 3702 } ], "gene": "http://reg.genome.network/gene/GN007569", "geneNCBI_id": 4629, "geneSymbol": "MYH11", "hgvs": [ "NM_002474.3:c.3598A>T" ], "proteinEffect": { "hgvs": "NP_002465.1:p.Lys1200Ter", "hgvsWellDefined": "NP_002465.1:p.Lys1200_Glu1972delinsHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgArgGlyAsnGluThrSerPheValProSerArgArgSerGlyGlyArgArgValIleGluAsnAlaAspGlySerGluGluGluThrAspThrArgAspAlaAspPheAsnGlyThrLysAlaSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665545", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000300036.6:c.3598A>T" }, "RefSeq": { "hgvs": "NM_002474.3:c.3598A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000300036.5:p.Lys1200Ter" }, "RefSeq": { "hgvs": "NP_002465.1:p.Lys1200Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA302649", "coordinates": [ { "allele": "T", "end": 3724, "referenceAllele": "A", "start": 3723 } ], "gene": "http://reg.genome.network/gene/GN007569", "geneNCBI_id": 4629, "geneSymbol": "MYH11", "hgvs": [ "NM_001040113.2:c.3619A>T" ], "proteinEffect": { "hgvs": "NP_001035202.1:p.Lys1207Ter", "hgvsWellDefined": "NP_001035202.1:p.Lys1207_Gln1945delinsHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgGlyProProProGlnGluThrSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675959", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000452625.7:c.3619A>T" }, "RefSeq": { "hgvs": "NM_001040113.2:c.3619A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407821.2:p.Lys1207Ter" }, "RefSeq": { "hgvs": "NP_001035202.1:p.Lys1207Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915958683", "coordinates": [ { "allele": "T", "end": 3724, "referenceAllele": "A", "start": 3723 } ], "gene": "http://reg.genome.network/gene/GN007569", "geneNCBI_id": 4629, "geneSymbol": "MYH11", "hgvs": [ "NM_001040114.2:c.3619A>T" ], "proteinEffect": { "hgvs": "NP_001035203.1:p.Lys1207Ter", "hgvsWellDefined": "NP_001035203.1:p.Lys1207_Glu1979delinsHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgArgGlyAsnGluThrSerPheValProSerArgArgSerGlyGlyArgArgValIleGluAsnAlaAspGlySerGluGluGluThrAspThrArgAspAlaAspPheAsnGlyThrLysAlaSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711627" }, { "@id": "http://reg.genome.network/allele/PA302648", "coordinates": [ { "allele": "T", "end": 3703, "referenceAllele": "A", "start": 3702 } ], "gene": "http://reg.genome.network/gene/GN007569", "geneNCBI_id": 4629, "geneSymbol": "MYH11", "hgvs": [ "NM_022844.3:c.3598A>T" ], "proteinEffect": { "hgvs": "NP_074035.1:p.Lys1200Ter", "hgvsWellDefined": "NP_074035.1:p.Lys1200_Gln1938delinsHisAlaGlnAlaValGluGluLeuThrGluGlnLeuGluGlnPheLysArgAlaLysAlaAsnLeuAspLysAsnLysGlnThrLeuGluLysGluAsnAlaAspLeuAlaGlyGluLeuArgValLeuGlyGlnAlaLysGlnGluValGluHisLysLysLysLysLeuGluAlaGlnValGlnGluLeuGlnSerLysCysSerAspGlyGluArgAlaArgAlaGluLeuAsnAspLysValHisLysLeuGlnAsnGluValGluSerValThrGlyMetLeuAsnGluAlaGluGlyLysAlaIleLysLeuAlaLysAspValAlaSerLeuSerSerGlnLeuGlnAspThrGlnGluLeuLeuGlnGluGluThrArgGlnLysLeuAsnValSerThrLysLeuArgGlnLeuGluGluGluArgAsnSerLeuGlnAspGlnLeuAspGluGluMetGluAlaLysGlnAsnLeuGluArgHisIleSerThrLeuAsnIleGlnLeuSerAspSerLysLysLysLeuGlnAspPheAlaSerThrValGluAlaLeuGluGluGlyLysLysArgPheGlnLysGluIleGluAsnLeuThrGlnGlnTyrGluGluLysAlaAlaAlaTyrAspLysLeuGluLysThrLysAsnArgLeuGlnGlnGluLeuAspAspLeuValValAspLeuAspAsnGlnArgGlnLeuValSerAsnLeuGluLysLysGlnArgLysPheAspGlnLeuLeuAlaGluGluLysAsnIleSerSerLysTyrAlaAspGluArgAspArgAlaGluAlaGluAlaArgGluLysGluThrLysAlaLeuSerLeuAlaArgAlaLeuGluGluAlaLeuGluAlaLysGluGluLeuGluArgThrAsnLysMetLeuLysAlaGluMetGluAspLeuValSerSerLysAspAspValGlyLysAsnValHisGluLeuGluLysSerLysArgAlaLeuGluThrGlnMetGluGluMetLysThrGlnLeuGluGluLeuGluAspGluLeuGlnAlaThrGluAspAlaLysLeuArgLeuGluValAsnMetGlnAlaLeuLysGlyGlnPheGluArgAspLeuGlnAlaArgAspGluGlnAsnGluGluLysArgArgGlnLeuGlnArgGlnLeuHisGluTyrGluThrGluLeuGluAspGluArgLysGlnArgAlaLeuAlaAlaAlaAlaLysLysLysLeuGluGlyAspLeuLysAspLeuGluLeuGlnAlaAspSerAlaIleLysGlyArgGluGluAlaIleLysGlnLeuArgLysLeuGlnAlaGlnMetLysAspPheGlnArgGluLeuGluAspAlaArgAlaSerArgAspGluIlePheAlaThrAlaLysGluAsnGluLysLysAlaLysSerLeuGluAlaAspLeuMetGlnLeuGlnGluAspLeuAlaAlaAlaGluArgAlaArgLysGlnAlaAspLeuGluLysGluGluLeuAlaGluGluLeuAlaSerSerLeuSerGlyArgAsnAlaLeuGlnAspGluLysArgArgLeuGluAlaArgIleAlaGlnLeuGluGluGluLeuGluGluGluGlnGlyAsnMetGluAlaMetSerAspArgValArgLysAlaThrGlnGlnAlaGluGlnLeuSerAsnGluLeuAlaThrGluArgSerThrAlaGlnLysAsnGluSerAlaArgGlnGlnLeuGluArgGlnAsnLysGluLeuArgSerLysLeuHisGluMetGluGlyAlaValLysSerLysPheLysSerThrIleAlaAlaLeuGluAlaLysIleAlaGlnLeuGluGluGlnValGluGlnGluAlaArgGluLysGlnAlaAlaThrLysSerLeuLysGlnLysAspLysLysLeuLysGluIleLeuLeuGlnValGluAspGluArgLysMetAlaGluGlnTyrLysGluGlnAlaGluLysGlyAsnAlaArgValLysGlnLeuLysArgGlnLeuGluGluAlaGluGluGluSerGlnArgIleAsnAlaAsnArgArgLysLeuGlnArgGluLeuAspGluAlaThrGluSerAsnGluAlaMetGlyArgGluValAsnAlaLeuLysSerLysLeuArgGlyProProProGlnGluThrSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728607" } ], "type": "nucleotide" }