{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA392519758", "communityStandardTitle": [ "NM_001382347.1(MYO5A):c.3043C>T (p.Arg1015Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=962831", "active": true, "id": "COSM962831" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4868402", "active": true, "id": "COSM4868402" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1324770[alleleid]", "alleleId": 1324770, "preferredName": "NM_001382347.1(MYO5A):c.3043C>T (p.Arg1015Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1334000", "RCV": [ "RCV001809215" ], "variationId": 1334000 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.52662389G>A?assembly=hg19", "id": "chr15:g.52662389G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.52370192G>A?assembly=hg38", "id": "chr15:g.52370192G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2141084327", "rs": 2141084327 } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 52370192, "referenceAllele": "G", "start": 52370191 } ], "hgvs": [ "NC_000015.10:g.52370192G>A", "CM000677.2:g.52370192G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 52662389, "referenceAllele": "G", "start": 52662388 } ], "hgvs": [ "NC_000015.9:g.52662389G>A", "CM000677.1:g.52662389G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 50449681, "referenceAllele": "G", "start": 50449680 } ], "hgvs": [ "NC_000015.8:g.50449681G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 163859, "referenceAllele": "C", "start": 163858 } ], "hgvs": [ "NG_009887.1:g.163859C>T", "LRG_86:g.163859C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001683" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3078, "referenceAllele": "C", "start": 3077 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000356338.11:c.3043C>T" ], "proteinEffect": { "hgvs": "ENSP00000348693.7:p.Arg1015Ter", "hgvsWellDefined": "ENSP00000348693.7:p.Arg1015_Val1853delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuTyrPheGluGluLeuTyrAlaAspAspProLysLysTyrGlnSerTyrArgIleSerLeuTyrLysArgMetIleAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824103" }, { "coordinates": [ { "allele": "T", "end": 3287, "referenceAllele": "C", "start": 3286 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000399231.8:c.3043C>T" ], "proteinEffect": { "hgvs": "ENSP00000382177.3:p.Arg1015Ter", "hgvsWellDefined": "ENSP00000382177.3:p.Arg1015_Val1855delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824542" }, { "coordinates": [ { "allele": "T", "end": 3009, "referenceAllele": "C", "start": 3008 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000553916.6:c.2935C>T" ], "proteinEffect": { "hgvs": "ENSP00000451109.2:p.Arg979Ter", "hgvsWellDefined": "ENSP00000451109.2:p.Arg979_Val1841delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuTyrPheGluGluLeuTyrAlaAspAspProLysLysTyrGlnSerTyrArgIleSerLeuTyrLysArgMetIleAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826003" }, { "coordinates": [ { "allele": "T", "end": 2947, "referenceAllele": "C", "start": 2946 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000556196.6:c.*2727C>T" ], "proteinEffect": { "hgvs": "ENSP00000451178.1:n.*2727C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS826036" }, { "coordinates": [ { "allele": "T", "end": 3351, "referenceAllele": "C", "start": 3350 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000685053.1:c.3043C>T" ], "proteinEffect": { "hgvs": "ENSP00000510081.1:p.Arg1015Ter", "hgvsWellDefined": "ENSP00000510081.1:p.Arg1015_Phe1317delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysValIleIleProPhePhePhePheSerLysTyrPheTyrLeuIleLeuThrLeuValTyrLysTyrProProIleLysAlaIleAspAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829858" }, { "coordinates": [ { "allele": "T", "end": 992, "referenceAllele": "C", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000685194.1:c.679C>T" ], "proteinEffect": { "hgvs": "ENSP00000509314.1:p.Arg227Ter", "hgvsWellDefined": "ENSP00000509314.1:p.Arg227_Val1040delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829934" }, { "coordinates": [ { "allele": "T", "end": 835, "referenceAllele": "C", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000685996.1:c.835C>T" ], "proteinEffect": { "hgvs": "ENSP00000509305.1:p.Arg279Ter", "hgvsWellDefined": "ENSP00000509305.1:p.Arg279_Phe577delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysValIleIleProPhePhePhePheSerLysTyrPheTyrLeuIleLeuThrLeuValTyrLysTyrProProIleLysAlaIleAspAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830346" }, { "coordinates": [ { "allele": "T", "end": 1904, "referenceAllele": "C", "start": 1903 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000686796.1:n.1904C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830748" }, { "coordinates": [ { "allele": "T", "end": 3369, "referenceAllele": "C", "start": 3368 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000687574.1:c.3043C>T" ], "proteinEffect": { "hgvs": "ENSP00000510312.1:p.Arg1015Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS831152" }, { "coordinates": [ { "allele": "T", "end": 2791, "referenceAllele": "C", "start": 2790 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000688010.1:n.2791C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831383" }, { "coordinates": [ { "allele": "T", "end": 1057, "referenceAllele": "C", "start": 1056 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000688074.1:c.679C>T" ], "proteinEffect": { "hgvs": "ENSP00000509404.1:p.Arg227Ter", "hgvsWellDefined": 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"ENST00000689601.1:n.2067C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832257" }, { "coordinates": [ { "allele": "T", "end": 835, "referenceAllele": "C", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000689897.1:c.835C>T" ], "proteinEffect": { "hgvs": "ENSP00000509082.1:p.Arg279Ter", "hgvsWellDefined": "ENSP00000509082.1:p.Arg279_Lys546del" }, "referenceSequence": "http://reg.genome.network/refseq/RS832431" }, { "coordinates": [ { "allele": "T", "end": 835, "referenceAllele": "C", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000691448.1:c.835C>T" ], "proteinEffect": { "hgvs": "ENSP00000508899.1:p.Arg279Ter", "hgvsWellDefined": "ENSP00000508899.1:p.Arg279_Lys499del" }, "referenceSequence": "http://reg.genome.network/refseq/RS833220" }, { "coordinates": [ { "allele": "T", "end": 3043, "referenceAllele": "C", "start": 3042 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000692556.1:c.3043C>T" ], "proteinEffect": { "hgvs": "ENSP00000510378.1:p.Arg1015Ter", "hgvsWellDefined": "ENSP00000510378.1:p.Arg1015_Val1852delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833774" }, { "coordinates": [ { "allele": "T", "end": 1054, "referenceAllele": "C", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000692646.1:c.679C>T" ], "proteinEffect": { "hgvs": "ENSP00000510243.1:p.Arg227Ter", "hgvsWellDefined": "ENSP00000510243.1:p.Arg227_Val1062delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuTyrPheGluGluLeuTyrAlaAspAspProLysLysTyrGlnSerTyrArgIleSerLeuTyrLysArgMetIleAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833811" }, { "coordinates": [ { "allele": "T", "end": 3117, "referenceAllele": "C", "start": 3116 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000399233.7:c.3043C>T" ], "proteinEffect": { "hgvs": "ENSP00000382179.4:p.Arg1015Ter", "hgvsWellDefined": "ENSP00000382179.4:p.Arg1015_Val1880delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuTyrPheGluGluLeuTyrAlaAspAspProLysLysTyrGlnSerTyrArgIleSerLeuTyrLysArgMetIleAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753822", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000399233.7:c.3043C>T" }, "RefSeq": { "hgvs": "NM_001382347.1:c.3043C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000382179.4:p.Arg1015Ter" }, "RefSeq": { "hgvs": "NP_001369276.1:p.Arg1015Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3117, "referenceAllele": "C", "start": 3116 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000356338.10:c.3043C>T" ], "proteinEffect": { "hgvs": "ENSP00000348693.6:p.Arg1015Ter", "hgvsWellDefined": "ENSP00000348693.6:p.Arg1015_Val1828delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263727" }, { "coordinates": [ { "allele": "T", "end": 3287, "referenceAllele": "C", "start": 3286 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000358212.10:c.3043C>T" ], "proteinEffect": { "hgvs": "ENSP00000350945.7:p.Arg1015Ter", "hgvsWellDefined": "ENSP00000350945.7:p.Arg1015_Val1855delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGlyAsnLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264377" }, { "coordinates": [ { "allele": "T", "end": 3287, "referenceAllele": "C", "start": 3286 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000399231.7:c.3043C>T" ], "proteinEffect": { "hgvs": "ENSP00000382177.3:p.Arg1015Ter", "hgvsWellDefined": "ENSP00000382177.3:p.Arg1015_Val1855delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278605" }, { "coordinates": [ { "allele": "T", "end": 3287, "referenceAllele": "C", "start": 3286 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000399233.6:c.3043C>T" ], "proteinEffect": { "hgvs": "ENSP00000382179.3:p.Arg1015Ter", "hgvsWellDefined": "ENSP00000382179.3:p.Arg1015_Val1855delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysProSerGlnAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278607" }, { "coordinates": [ { "allele": "T", "end": 3078, "referenceAllele": "C", "start": 3077 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000553916.5:c.3043C>T" ], "proteinEffect": { "hgvs": "ENSP00000451109.1:p.Arg1015Ter", "hgvsWellDefined": "ENSP00000451109.1:p.Arg1015_Val1853delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuTyrPheGluGluLeuTyrAlaAspAspProLysLysTyrGlnSerTyrArgIleSerLeuTyrLysArgMetIleAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS370234" }, { "coordinates": [ { "allele": "T", "end": 2945, "referenceAllele": "C", "start": 2944 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000556196.5:c.*2727C>T" ], "proteinEffect": { "hgvs": "ENSP00000451178.1:n.*2727C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS372029" }, { "coordinates": [ { "allele": "T", "end": 3287, "referenceAllele": "C", "start": 3286 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "ENST00000613858.4:c.3043C>T" ], "proteinEffect": { "hgvs": "ENSP00000481420.1:p.Arg1015Ter", "hgvsWellDefined": "ENSP00000481420.1:p.Arg1015_Val1828delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGlyAsnLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401918" }, { "@id": "http://reg.genome.network/allele/PA2825114234", "coordinates": [ { "allele": "T", "end": 3287, "referenceAllele": "C", "start": 3286 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "NM_000259.3:c.3043C>T", "LRG_86t1:c.3043C>T" ], "proteinEffect": { "hgvs": "NP_000250.3:p.Arg1015Ter", "hgvsWellDefined": "NP_000250.3:p.Arg1015_Val1855delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006321" }, { "coordinates": [ { "allele": "T", "end": 3287, "referenceAllele": "C", "start": 3286 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "NM_001142495.1:c.3043C>T" ], "proteinEffect": { "hgvs": "NP_001135967.1:p.Arg1015Ter", "hgvsWellDefined": "NP_001135967.1:p.Arg1015_Val1828delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012926" }, { "coordinates": [ { "allele": "T", "end": 3119, "referenceAllele": "C", "start": 3118 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_005254397.2:c.3043C>T" ], "proteinEffect": { "hgvs": "XP_005254454.1:p.Arg1015Ter", "hgvsWellDefined": "XP_005254454.1:p.Arg1015_Val1880delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuTyrPheGluGluLeuTyrAlaAspAspProLysLysTyrGlnSerTyrArgIleSerLeuTyrLysArgMetIleAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060613" }, { "coordinates": [ { "allele": "T", "end": 3058, "referenceAllele": "C", "start": 3057 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_005254398.3:c.3043C>T" ], "proteinEffect": { "hgvs": "XP_005254455.1:p.Arg1015Ter", "hgvsWellDefined": "XP_005254455.1:p.Arg1015_Val1880delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuTyrPheGluGluLeuTyrAlaAspAspProLysLysTyrGlnSerTyrArgIleSerLeuTyrLysArgMetIleAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060614" }, { "coordinates": [ { "allele": "T", "end": 3064, "referenceAllele": "C", "start": 3063 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_011521606.1:c.3049C>T" ], "proteinEffect": { "hgvs": "XP_011519908.1:p.Arg1017Ter", "hgvsWellDefined": "XP_011519908.1:p.Arg1017_Val1882delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuTyrPheGluGluLeuTyrAlaAspAspProLysLysTyrGlnSerTyrArgIleSerLeuTyrLysArgMetIleAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088766" }, { "coordinates": [ { "allele": "T", "end": 3064, "referenceAllele": "C", "start": 3063 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_011521607.1:c.3049C>T" ], "proteinEffect": { "hgvs": "XP_011519909.1:p.Arg1017Ter", "hgvsWellDefined": "XP_011519909.1:p.Arg1017_Val1879delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuTyrPheGluGluLeuTyrAlaAspAspProLysLysTyrGlnSerTyrArgIleSerLeuTyrLysArgMetIleAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088767" }, { "coordinates": [ { "allele": "T", "end": 3064, "referenceAllele": "C", "start": 3063 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_011521608.1:c.3049C>T" ], "proteinEffect": { "hgvs": "XP_011519910.1:p.Arg1017Ter", "hgvsWellDefined": "XP_011519910.1:p.Arg1017_Val1857delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088768" }, { "coordinates": [ { "allele": "T", "end": 3064, "referenceAllele": "C", "start": 3063 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_011521609.1:c.3049C>T" ], "proteinEffect": { "hgvs": "XP_011519911.1:p.Arg1017Ter", "hgvsWellDefined": "XP_011519911.1:p.Arg1017_Val1855delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuTyrPheGluGluLeuTyrAlaAspAspProLysLysTyrGlnSerTyrArgIleSerLeuTyrLysArgMetIleAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088769" }, { "coordinates": [ { "allele": "T", "end": 3064, "referenceAllele": "C", "start": 3063 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_011521610.1:c.3049C>T" ], "proteinEffect": { "hgvs": "XP_011519912.1:p.Arg1017Ter", "hgvsWellDefined": "XP_011519912.1:p.Arg1017_Val1854delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088770" }, { "coordinates": [ { "allele": "T", "end": 3064, "referenceAllele": "C", "start": 3063 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_011521611.1:c.3049C>T" ], "proteinEffect": { "hgvs": "XP_011519913.1:p.Arg1017Ter", "hgvsWellDefined": "XP_011519913.1:p.Arg1017_Val1830delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088771" }, { "coordinates": [ { "allele": "T", "end": 3064, "referenceAllele": "C", "start": 3063 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_011521612.1:c.3049C>T" ], "proteinEffect": { "hgvs": "XP_011519914.1:p.Arg1017Ter", "hgvsWellDefined": "XP_011519914.1:p.Arg1017_Val1827delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088772" }, { "coordinates": [ { "allele": "T", "end": 3119, "referenceAllele": "C", "start": 3118 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_005254397.4:c.3043C>T" ], "proteinEffect": { "hgvs": "XP_005254454.1:p.Arg1015Ter", "hgvsWellDefined": "XP_005254454.1:p.Arg1015_Val1880delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuTyrPheGluGluLeuTyrAlaAspAspProLysLysTyrGlnSerTyrArgIleSerLeuTyrLysArgMetIleAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534114" }, { "coordinates": [ { "allele": "T", "end": 3122, "referenceAllele": "C", "start": 3121 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_011521606.2:c.3115C>T" ], "proteinEffect": { "hgvs": "XP_011519908.2:p.Arg1039Ter", "hgvsWellDefined": "XP_011519908.2:p.Arg1039_Val1904delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuTyrPheGluGluLeuTyrAlaAspAspProLysLysTyrGlnSerTyrArgIleSerLeuTyrLysArgMetIleAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546224" }, { "coordinates": [ { "allele": "T", "end": 3122, "referenceAllele": "C", "start": 3121 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_011521607.3:c.3115C>T" ], "proteinEffect": { "hgvs": "XP_011519909.2:p.Arg1039Ter", "hgvsWellDefined": "XP_011519909.2:p.Arg1039_Val1901delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuTyrPheGluGluLeuTyrAlaAspAspProLysLysTyrGlnSerTyrArgIleSerLeuTyrLysArgMetIleAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546225" }, { "coordinates": [ { "allele": "T", "end": 3121, "referenceAllele": "C", "start": 3120 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_011521608.3:c.3115C>T" ], "proteinEffect": { "hgvs": "XP_011519910.2:p.Arg1039Ter", "hgvsWellDefined": "XP_011519910.2:p.Arg1039_Val1879delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546226" }, { "coordinates": [ { "allele": "T", "end": 3121, "referenceAllele": "C", "start": 3120 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_011521609.3:c.3115C>T" ], "proteinEffect": { "hgvs": "XP_011519911.2:p.Arg1039Ter", "hgvsWellDefined": "XP_011519911.2:p.Arg1039_Val1877delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuTyrPheGluGluLeuTyrAlaAspAspProLysLysTyrGlnSerTyrArgIleSerLeuTyrLysArgMetIleAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546227" }, { "coordinates": [ { "allele": "T", "end": 3122, "referenceAllele": "C", "start": 3121 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_011521610.3:c.3115C>T" ], "proteinEffect": { "hgvs": "XP_011519912.2:p.Arg1039Ter", "hgvsWellDefined": "XP_011519912.2:p.Arg1039_Val1876delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546228" }, { "coordinates": [ { "allele": "T", "end": 3121, "referenceAllele": "C", "start": 3120 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_011521611.3:c.3115C>T" ], "proteinEffect": { "hgvs": "XP_011519913.2:p.Arg1039Ter", "hgvsWellDefined": "XP_011519913.2:p.Arg1039_Val1852delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546229" }, { "coordinates": [ { "allele": "T", "end": 3121, "referenceAllele": "C", "start": 3120 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_011521612.3:c.3115C>T" ], "proteinEffect": { "hgvs": "XP_011519914.2:p.Arg1039Ter", "hgvsWellDefined": "XP_011519914.2:p.Arg1039_Val1849delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546230" }, { "coordinates": [ { "allele": "T", "end": 3014, "referenceAllele": "C", "start": 3013 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "XM_017022227.2:c.3007C>T" ], "proteinEffect": { "hgvs": "XP_016877716.1:p.Arg1003Ter", "hgvsWellDefined": "XP_016877716.1:p.Arg1003_Val1868delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuTyrPheGluGluLeuTyrAlaAspAspProLysLysTyrGlnSerTyrArgIleSerLeuTyrLysArgMetIleAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573229" }, { "@id": "http://reg.genome.network/allele/PA2825794608", "coordinates": [ { "allele": "T", "end": 3117, "referenceAllele": "C", "start": 3116 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "NM_001142495.2:c.3043C>T" ], "proteinEffect": { "hgvs": "NP_001135967.2:p.Arg1015Ter", "hgvsWellDefined": "NP_001135967.2:p.Arg1015_Val1828delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677545" }, { "@id": "http://reg.genome.network/allele/PA2828890353", "coordinates": [ { "allele": "T", "end": 3117, "referenceAllele": "C", "start": 3116 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "NM_001382347.1:c.3043C>T" ], "proteinEffect": { "hgvs": "NP_001369276.1:p.Arg1015Ter", "hgvsWellDefined": "NP_001369276.1:p.Arg1015_Val1880delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuTyrPheGluGluLeuTyrAlaAspAspProLysLysTyrGlnSerTyrArgIleSerLeuTyrLysArgMetIleAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000399233.7:c.3043C>T" }, "RefSeq": { "hgvs": "NM_001382347.1:c.3043C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000382179.4:p.Arg1015Ter" }, "RefSeq": { "hgvs": "NP_001369276.1:p.Arg1015Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828890554", "coordinates": [ { "allele": "T", "end": 3237, "referenceAllele": "C", "start": 3236 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "NM_001382348.1:c.3115C>T" ], "proteinEffect": { "hgvs": "NP_001369277.1:p.Arg1039Ter", "hgvsWellDefined": "NP_001369277.1:p.Arg1039_Val1904delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuTyrPheGluGluLeuTyrAlaAspAspProLysLysTyrGlnSerTyrArgIleSerLeuTyrLysArgMetIleAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722296" }, { "@id": "http://reg.genome.network/allele/PA2573076966", "coordinates": [ { "allele": "T", "end": 3237, "referenceAllele": "C", "start": 3236 } ], "gene": "http://reg.genome.network/gene/GN007602", "geneNCBI_id": 4644, "geneSymbol": "MYO5A", "hgvs": [ "NM_001382349.1:c.3115C>T" ], "proteinEffect": { "hgvs": "NP_001369278.1:p.Arg1039Ter", "hgvsWellDefined": "NP_001369278.1:p.Arg1039_Val1879delinsTyrLysGlnGluThrGluGlnLeuValSerAsnLeuLysGluGluAsnThrLeuLeuLysGlnGluLysGluAlaLeuAsnHisArgIleValGlnGlnAlaLysGluMetThrGluThrMetGluLysLysLeuValGluGluThrLysGlnLeuGluLeuAspLeuAsnAspGluArgLeuArgTyrGlnAsnLeuLeuAsnGluPheSerArgLeuGluGluArgTyrAspAspLeuLysGluGluMetThrLeuMetValHisValProLysProGlyHisLysArgThrAspSerThrHisSerSerAsnGluSerGluTyrIlePheSerSerGluIleAlaGluMetGluAspIleProSerArgThrGluGluProSerGluLysLysValProLeuAspMetSerLeuPheLeuLysLeuGlnLysArgValThrGluLeuGluGlnGluLysGlnValMetGlnAspGluLeuAspArgLysGluGluGlnValLeuArgSerLysAlaLysGluGluGluArgProGlnIleArgGlyAlaGluLeuGluTyrGluSerLeuLysArgGlnGluLeuGluSerGluAsnLysLysLeuLysAsnGluLeuAsnGluLeuArgLysAlaLeuSerGluLysSerAlaProGluValThrAlaProGlyAlaProAlaTyrArgValLeuMetGluGlnLeuThrSerValSerGluGluLeuAspValArgLysGluGluValLeuIleLeuArgSerGlnLeuValSerGlnLysGluAlaIleGlnProLysAspAspLysAsnThrMetThrAspSerThrIleLeuLeuGluAspValGlnLysMetLysAspLysGlyGluIleAlaGlnAlaTyrIleGlyLeuLysGluThrAsnArgSerSerAlaLeuAspTyrHisGluLeuAsnGluAspGlyGluLeuTrpLeuValTyrGluGlyLeuLysGlnAlaAsnArgLeuLeuGluSerGlnLeuGlnSerGlnLysArgSerHisGluAsnGluAlaGluAlaLeuArgGlyGluIleGlnSerLeuLysGluGluAsnAsnArgGlnGlnGlnLeuLeuAlaGlnAsnLeuGlnLeuProProGluAlaArgIleGluAlaSerLeuGlnHisGluIleThrArgLeuThrAsnGluAsnLeuAspLeuMetGluGlnLeuGluLysGlnAspLysThrValArgLysLeuLysLysGlnLeuLysValPheAlaLysLysIleGlyGluLeuGluValGlyGlnMetGluAsnIleSerProGlyGlnIleIleAspGluProIleArgProValAsnIleProArgLysGluLysAspPheGlnGlyMetLeuGluTyrLysLysGluAspGluGlnLysLeuValLysAsnLeuIleLeuGluLeuLysProArgGlyValAlaValAsnLeuIleProGlyLeuProAlaTyrIleLeuPheMetCysValArgHisAlaAspTyrLeuAsnAspAspGlnLysValArgSerLeuLeuThrSerThrIleAsnSerIleLysLysValLeuLysLysArgGlyAspAspPheGluThrValSerPheTrpLeuSerAsnThrCysArgPheLeuHisCysLeuLysGlnTyrSerGlyGluGluGlyPheMetLysHisAsnThrSerArgGlnAsnGluHisCysLeuThrAsnPheAspLeuAlaGluTyrArgGlnValLeuSerAspLeuAlaIleGlnIleTyrGlnGlnLeuValArgValLeuGluAsnIleLeuGlnProMetIleValSerGlyMetLeuGluHisGluThrIleGlnGlyValSerGlyValLysProThrGlyLeuArgLysArgThrSerSerIleAlaAspGluGlyThrTyrThrLeuAspSerIleLeuArgGlnLeuAsnSerPheHisSerValMetCysGlnHisGlyMetAspProGluLeuIleLysGlnValValLysGlnMetPheTyrIleIleGlyAlaIleThrLeuAsnAsnLeuLeuLeuArgLysAspMetCysSerTrpSerLysGlyMetGlnIleArgTyrAsnValSerGlnLeuGluGluTrpLeuArgAspLysAsnLeuMetAsnSerGlyAlaLysGluThrLeuGluProLeuIleGlnAlaAlaGlnLeuLeuGlnValLysLysLysThrAspAspAspAlaGluAlaIleCysSerMetCysAsnAlaLeuThrThrAlaGlnIleValLysValLeuAsnLeuTyrThrProValAsnGluPheGluGluArgValSerValSerPheIleArgThrIleGlnMetArgLeuArgAspArgLysAspSerProGlnLeuLeuMetAspAlaLysHisIlePheProValThrPheProPheAsnProSerSerLeuAlaLeuGluThrIleGlnIleProAlaSerLeuGlyLeuGlyPheIleSerArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722297" } ], "type": "nucleotide" }