{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10576708", "communityStandardTitle": [ "NM_004999.4(MYO6):c.2839C>T (p.Arg947Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=229527[alleleid]", "alleleId": 229527, "preferredName": "NM_004999.4(MYO6):c.2839C>T (p.Arg947Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/228278", "RCV": [ "RCV000215443", "RCV003389245" ], "variationId": 228278 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.76599954C>T?assembly=hg19", "id": "chr6:g.76599954C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.75890237C>T?assembly=hg38", "id": "chr6:g.75890237C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/876657653", "rs": 876657653 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-75890237-C-T?dataset=gnomad_r4", "id": "6-75890237-C-T", "variant": "6:75890237 C / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 75890237, "referenceAllele": "C", "start": 75890236 } ], "hgvs": [ "NC_000006.12:g.75890237C>T", "CM000668.2:g.75890237C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 76599954, "referenceAllele": "C", "start": 76599953 } ], "hgvs": [ "NC_000006.11:g.76599954C>T", "CM000668.1:g.76599954C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 76656674, "referenceAllele": "C", "start": 76656673 } ], "hgvs": [ "NC_000006.10:g.76656674C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 146046, "referenceAllele": "C", "start": 146045 } ], "hgvs": [ "NG_009934.1:g.146046C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001701" }, { "coordinates": [ { "allele": "T", "end": 146045, "referenceAllele": "C", "start": 146044 } ], "hgvs": [ "NG_009934.2:g.146045C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673535" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3075, "referenceAllele": "C", "start": 3074 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000369975.6:c.2839C>T" ], "proteinEffect": { "hgvs": "ENSP00000358992.1:p.Arg947Ter", "hgvsWellDefined": "ENSP00000358992.1:p.Arg948_Lys1253delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750518" }, { "coordinates": [ { "allele": "T", "end": 3071, "referenceAllele": "C", "start": 3070 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000369977.8:c.2839C>T" ], "proteinEffect": { "hgvs": "ENSP00000358994.3:p.Arg947Ter", "hgvsWellDefined": "ENSP00000358994.3:p.Arg948_Lys1285delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750519", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000369977.8:c.2839C>T" }, "RefSeq": { "hgvs": "NM_004999.4:c.2839C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000358994.3:p.Arg947Ter" }, "RefSeq": { "hgvs": "NP_004990.3:p.Arg947Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3071, "referenceAllele": "C", "start": 3070 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000369985.9:c.2839C>T" ], "proteinEffect": { "hgvs": "ENSP00000359002.3:p.Arg947Ter", "hgvsWellDefined": "ENSP00000359002.3:p.Arg948_Lys1262delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750523" }, { "coordinates": [ { "allele": "T", "end": 3083, "referenceAllele": "C", "start": 3082 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000627432.3:c.2848C>T" ], "proteinEffect": { "hgvs": "ENSP00000487348.2:p.Arg950Ter", "hgvsWellDefined": "ENSP00000487348.2:p.Arg950Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS762491" }, { "coordinates": [ { "allele": "T", "end": 3071, "referenceAllele": "C", "start": 3070 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000664640.1:c.2839C>T" ], "proteinEffect": { "hgvs": "ENSP00000499278.1:p.Arg947Ter", "hgvsWellDefined": "ENSP00000499278.1:p.Arg948_Lys1294delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772867" }, { "coordinates": [ { "allele": "T", "end": 3198, "referenceAllele": "C", "start": 3197 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000671923.1:c.*946C>T" ], "proteinEffect": { "hgvs": "ENSP00000500835.1:n.*946C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773212" }, { "coordinates": [ { "allele": "T", "end": 2839, "referenceAllele": "C", "start": 2838 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000672093.1:c.2839C>T" ], "proteinEffect": { "hgvs": "ENSP00000500710.1:p.Arg947Ter", "hgvsWellDefined": "ENSP00000500710.1:p.Arg948_Lys1285delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773268" }, { "coordinates": [ { "allele": "T", "end": 2864, "referenceAllele": "C", "start": 2863 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000369975.5:c.2839C>T" ], "proteinEffect": { "hgvs": "ENSP00000358992.1:p.Arg947Ter", "hgvsWellDefined": "ENSP00000358992.1:p.Arg948_Lys1253delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267802" }, { "coordinates": [ { "allele": "T", "end": 2978, "referenceAllele": "C", "start": 2977 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000369977.7:c.2839C>T" ], "proteinEffect": { "hgvs": "ENSP00000358994.3:p.Arg947Ter", "hgvsWellDefined": "ENSP00000358994.3:p.Arg948_Lys1285delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267804" }, { "coordinates": [ { "allele": "T", "end": 3118, "referenceAllele": "C", "start": 3117 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000369981.7:c.2839C>T" ], "proteinEffect": { "hgvs": "ENSP00000358998.4:p.Arg947Ter", "hgvsWellDefined": "ENSP00000358998.4:p.Arg948_Lys1295delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgTyrLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267806" }, { "coordinates": [ { "allele": "T", "end": 3101, "referenceAllele": "C", "start": 3100 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000369985.8:c.2839C>T" ], "proteinEffect": { "hgvs": "ENSP00000359002.3:p.Arg947Ter", "hgvsWellDefined": "ENSP00000359002.3:p.Arg948_Lys1262delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267810" }, { "coordinates": [ { "allele": "T", "end": 28, "referenceAllele": "C", "start": 27 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000430435.1:c.28C>T" ], "proteinEffect": { "hgvs": "ENSP00000399406.1:p.Arg10Ter", "hgvsWellDefined": "ENSP00000399406.1:p.Arg10_Trp174del" }, "referenceSequence": "http://reg.genome.network/refseq/RS291151" }, { "coordinates": [ { "allele": "T", "end": 2871, "referenceAllele": "C", "start": 2870 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000615563.4:c.2839C>T" ], "proteinEffect": { "hgvs": "ENSP00000478013.1:p.Arg947Ter", "hgvsWellDefined": "ENSP00000478013.1:p.Arg948_Lys1262delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402670" }, { "coordinates": [ { "allele": "T", "end": 2863, "referenceAllele": "C", "start": 2862 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000627432.2:c.2839C>T" ], "proteinEffect": { "hgvs": "ENSP00000487348.1:p.Arg947Ter", "hgvsWellDefined": "ENSP00000487348.1:p.Arg948_Lys1294delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406891" }, { "@id": "http://reg.genome.network/allele/PA2826854573", "coordinates": [ { "allele": "T", "end": 3134, "referenceAllele": "C", "start": 3133 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_001300899.1:c.2839C>T" ], "proteinEffect": { "hgvs": "NP_001287828.1:p.Arg947Ter", "hgvsWellDefined": "NP_001287828.1:p.Arg948_Lys1262delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024940" }, { "@id": "http://reg.genome.network/allele/PA645431723", "coordinates": [ { "allele": "T", "end": 3118, "referenceAllele": "C", "start": 3117 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_004999.3:c.2839C>T" ], "proteinEffect": { "hgvs": "NP_004990.3:p.Arg947Ter", "hgvsWellDefined": "NP_004990.3:p.Arg948_Lys1285delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030129" }, { "coordinates": [ { "allele": "T", "end": 3134, "referenceAllele": "C", "start": 3133 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248719.2:c.2839C>T" ], "proteinEffect": { "hgvs": "XP_005248776.1:p.Arg947Ter", "hgvsWellDefined": "XP_005248776.1:p.Arg948_Lys1294delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058559" }, { "coordinates": [ { "allele": "T", "end": 3134, "referenceAllele": "C", "start": 3133 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248720.2:c.2839C>T" ], "proteinEffect": { "hgvs": "XP_005248777.1:p.Arg947Ter", "hgvsWellDefined": "XP_005248777.1:p.Arg948_Lys1285delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058560" }, { "coordinates": [ { "allele": "T", "end": 3134, "referenceAllele": "C", "start": 3133 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248721.2:c.2839C>T" ], "proteinEffect": { "hgvs": "XP_005248778.1:p.Arg947Ter", "hgvsWellDefined": "XP_005248778.1:p.Arg948_Lys1281delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058561" }, { "coordinates": [ { "allele": "T", "end": 3134, "referenceAllele": "C", "start": 3133 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248722.2:c.2839C>T" ], "proteinEffect": { "hgvs": "XP_005248779.1:p.Arg947Ter", "hgvsWellDefined": "XP_005248779.1:p.Arg948_Lys1276delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058562" }, { "coordinates": [ { "allele": "T", "end": 3134, "referenceAllele": "C", "start": 3133 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248724.2:c.2839C>T" ], "proteinEffect": { "hgvs": "XP_005248781.1:p.Arg947Ter", "hgvsWellDefined": "XP_005248781.1:p.Arg948_Lys1272delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgAsnAspGlyThrArgProLysMetThrProGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058563" }, { "coordinates": [ { "allele": "T", "end": 3134, "referenceAllele": "C", "start": 3133 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248726.2:c.2839C>T" ], "proteinEffect": { "hgvs": "XP_005248783.1:p.Arg947Ter", "hgvsWellDefined": "XP_005248783.1:p.Arg948_Lys1253delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058564" }, { "coordinates": [ { "allele": "T", "end": 3107, "referenceAllele": "C", "start": 3106 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248719.4:c.2839C>T" ], "proteinEffect": { "hgvs": "XP_005248776.1:p.Arg947Ter", "hgvsWellDefined": "XP_005248776.1:p.Arg948_Lys1294delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533143" }, { "coordinates": [ { "allele": "T", "end": 3107, "referenceAllele": "C", "start": 3106 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248720.4:c.2839C>T" ], "proteinEffect": { "hgvs": "XP_005248777.1:p.Arg947Ter", "hgvsWellDefined": "XP_005248777.1:p.Arg948_Lys1285delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533144" }, { "coordinates": [ { "allele": "T", "end": 3107, "referenceAllele": "C", "start": 3106 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248721.4:c.2839C>T" ], "proteinEffect": { "hgvs": "XP_005248778.1:p.Arg947Ter", "hgvsWellDefined": "XP_005248778.1:p.Arg948_Lys1281delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533145" }, { "coordinates": [ { "allele": "T", "end": 3107, "referenceAllele": "C", "start": 3106 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248722.4:c.2839C>T" ], "proteinEffect": { "hgvs": "XP_005248779.1:p.Arg947Ter", "hgvsWellDefined": "XP_005248779.1:p.Arg948_Lys1276delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533146" }, { "coordinates": [ { "allele": "T", "end": 3107, "referenceAllele": "C", "start": 3106 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248724.4:c.2839C>T" ], "proteinEffect": { "hgvs": "XP_005248781.1:p.Arg947Ter", "hgvsWellDefined": "XP_005248781.1:p.Arg948_Lys1272delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgAsnAspGlyThrArgProLysMetThrProGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533147" }, { "coordinates": [ { "allele": "T", "end": 3107, "referenceAllele": "C", "start": 3106 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248726.4:c.2839C>T" ], "proteinEffect": { "hgvs": "XP_005248783.1:p.Arg947Ter", "hgvsWellDefined": "XP_005248783.1:p.Arg948_Lys1253delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533148" }, { "coordinates": [ { "allele": "T", "end": 3107, "referenceAllele": "C", "start": 3106 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_017010899.2:c.2839C>T" ], "proteinEffect": { "hgvs": "XP_016866388.1:p.Arg947Ter", "hgvsWellDefined": "XP_016866388.1:p.Arg948_Lys1263delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgAsnAspGlyThrArgProLysMetThrProGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564858" }, { "coordinates": [ { "allele": "T", "end": 2971, "referenceAllele": "C", "start": 2970 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_024446447.1:c.2839C>T" ], "proteinEffect": { "hgvs": "XP_024302215.1:p.Arg947Ter", "hgvsWellDefined": "XP_024302215.1:p.Arg948_Lys1294delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580109" }, { "coordinates": [ { "allele": "T", "end": 3107, "referenceAllele": "C", "start": 3106 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_024446448.1:c.2839C>T" ], "proteinEffect": { "hgvs": "XP_024302216.1:p.Arg947Ter", "hgvsWellDefined": "XP_024302216.1:p.Arg948_Lys1272delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580110" }, { "@id": "http://reg.genome.network/allele/PA645431723", "coordinates": [ { "allele": "T", "end": 3071, "referenceAllele": "C", "start": 3070 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_004999.4:c.2839C>T" ], "proteinEffect": { "hgvs": "NP_004990.3:p.Arg947Ter", "hgvsWellDefined": "NP_004990.3:p.Arg948_Lys1285delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666761", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000369977.8:c.2839C>T" }, "RefSeq": { "hgvs": "NM_004999.4:c.2839C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000358994.3:p.Arg947Ter" }, "RefSeq": { "hgvs": "NP_004990.3:p.Arg947Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826854573", "coordinates": [ { "allele": "T", "end": 3071, "referenceAllele": "C", "start": 3070 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_001300899.2:c.2839C>T" ], "proteinEffect": { "hgvs": "NP_001287828.1:p.Arg947Ter", "hgvsWellDefined": "NP_001287828.1:p.Arg948_Lys1262delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683230" }, { "@id": "http://reg.genome.network/allele/PA2828284950", "coordinates": [ { "allele": "T", "end": 3071, "referenceAllele": "C", "start": 3070 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_001368136.1:c.2839C>T" ], "proteinEffect": { "hgvs": "NP_001355065.1:p.Arg947Ter", "hgvsWellDefined": "NP_001355065.1:p.Arg948_Lys1253delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691367" }, { "@id": "http://reg.genome.network/allele/PA2828285310", "coordinates": [ { "allele": "T", "end": 3071, "referenceAllele": "C", "start": 3070 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_001368137.1:c.2839C>T" ], "proteinEffect": { "hgvs": "NP_001355066.1:p.Arg947Ter", "hgvsWellDefined": "NP_001355066.1:p.Arg948_Lys1272delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691368" }, { "@id": "http://reg.genome.network/allele/PA2828285668", "coordinates": [ { "allele": "T", "end": 3056, "referenceAllele": "C", "start": 3055 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_001368138.1:c.2824C>T" ], "proteinEffect": { "hgvs": "NP_001355067.1:p.Arg942Ter", "hgvsWellDefined": "NP_001355067.1:p.Arg943_Lys1257delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691369" }, { "@id": "http://reg.genome.network/allele/PA2828290826", "coordinates": [ { "allele": "T", "end": 3071, "referenceAllele": "C", "start": 3070 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_001368865.1:c.2839C>T" ], "proteinEffect": { "hgvs": "NP_001355794.1:p.Arg947Ter", "hgvsWellDefined": "NP_001355794.1:p.Arg948_Lys1294delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691442" }, { "@id": "http://reg.genome.network/allele/PA2828291154", "coordinates": [ { "allele": "T", "end": 3071, "referenceAllele": "C", "start": 3070 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_001368866.1:c.2839C>T" ], "proteinEffect": { "hgvs": "NP_001355795.1:p.Arg947Ter", "hgvsWellDefined": "NP_001355795.1:p.Arg948_Lys1285delinsLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691443" }, { "coordinates": [ { "allele": "T", "end": 3164, "referenceAllele": "C", "start": 3163 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NR_160538.1:n.3164C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705098" } ], "type": "nucleotide" }