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"ENSP00000358992.1:p.Arg849_Lys1253delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267802" }, { "coordinates": [ { "allele": "T", "end": 2684, "referenceAllele": "C", "start": 2683 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000369977.7:c.2545C>T" ], "proteinEffect": { "hgvs": "ENSP00000358994.3:p.Arg849Ter", "hgvsWellDefined": "ENSP00000358994.3:p.Arg849_Lys1285delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267804" }, { "coordinates": [ { "allele": "T", "end": 2824, "referenceAllele": "C", "start": 2823 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000369981.7:c.2545C>T" ], "proteinEffect": { "hgvs": "ENSP00000358998.4:p.Arg849Ter", "hgvsWellDefined": "ENSP00000358998.4:p.Arg849_Lys1295delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgTyrLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267806" }, { "coordinates": [ { "allele": "T", "end": 2807, "referenceAllele": "C", "start": 2806 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000369985.8:c.2545C>T" ], "proteinEffect": { "hgvs": "ENSP00000359002.3:p.Arg849Ter", "hgvsWellDefined": "ENSP00000359002.3:p.Arg849_Lys1262delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267810" }, { "coordinates": [ { "allele": "T", "end": 2577, "referenceAllele": "C", "start": 2576 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000615563.4:c.2545C>T" ], "proteinEffect": { "hgvs": "ENSP00000478013.1:p.Arg849Ter", "hgvsWellDefined": "ENSP00000478013.1:p.Arg849_Lys1262delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402670" }, { "coordinates": [ { "allele": "T", "end": 2569, "referenceAllele": "C", "start": 2568 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "ENST00000627432.2:c.2545C>T" ], "proteinEffect": { "hgvs": "ENSP00000487348.1:p.Arg849Ter", "hgvsWellDefined": "ENSP00000487348.1:p.Arg849_Lys1294delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406891" }, { "@id": "http://reg.genome.network/allele/PA2826854536", "coordinates": [ { "allele": "T", "end": 2840, "referenceAllele": "C", "start": 2839 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_001300899.1:c.2545C>T" ], "proteinEffect": { "hgvs": "NP_001287828.1:p.Arg849Ter", "hgvsWellDefined": "NP_001287828.1:p.Arg849_Lys1262delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024940" }, { "@id": "http://reg.genome.network/allele/PA254508", "coordinates": [ { "allele": "T", "end": 2824, "referenceAllele": "C", "start": 2823 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_004999.3:c.2545C>T" ], "proteinEffect": { "hgvs": "NP_004990.3:p.Arg849Ter", "hgvsWellDefined": "NP_004990.3:p.Arg849_Lys1285delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030129" }, { "coordinates": [ { "allele": "T", "end": 2840, "referenceAllele": "C", "start": 2839 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248719.2:c.2545C>T" ], "proteinEffect": { "hgvs": "XP_005248776.1:p.Arg849Ter", "hgvsWellDefined": "XP_005248776.1:p.Arg849_Lys1294delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058559" }, { "coordinates": [ { "allele": "T", "end": 2840, "referenceAllele": "C", "start": 2839 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248720.2:c.2545C>T" ], "proteinEffect": { "hgvs": "XP_005248777.1:p.Arg849Ter", "hgvsWellDefined": "XP_005248777.1:p.Arg849_Lys1285delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058560" }, { "coordinates": [ { "allele": "T", "end": 2840, "referenceAllele": "C", "start": 2839 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248721.2:c.2545C>T" ], "proteinEffect": { "hgvs": "XP_005248778.1:p.Arg849Ter", "hgvsWellDefined": "XP_005248778.1:p.Arg849_Lys1281delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058561" }, { "coordinates": [ { "allele": "T", "end": 2840, "referenceAllele": "C", "start": 2839 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248722.2:c.2545C>T" ], "proteinEffect": { "hgvs": "XP_005248779.1:p.Arg849Ter", "hgvsWellDefined": "XP_005248779.1:p.Arg849_Lys1276delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058562" }, { "coordinates": [ { "allele": "T", "end": 2840, "referenceAllele": "C", "start": 2839 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248724.2:c.2545C>T" ], "proteinEffect": { "hgvs": "XP_005248781.1:p.Arg849Ter", "hgvsWellDefined": "XP_005248781.1:p.Arg849_Lys1272delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgAsnAspGlyThrArgProLysMetThrProGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058563" }, { "coordinates": [ { "allele": "T", "end": 2840, "referenceAllele": "C", "start": 2839 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248726.2:c.2545C>T" ], "proteinEffect": { "hgvs": "XP_005248783.1:p.Arg849Ter", "hgvsWellDefined": "XP_005248783.1:p.Arg849_Lys1253delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058564" }, { "coordinates": [ { "allele": "T", "end": 2813, "referenceAllele": "C", "start": 2812 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248719.4:c.2545C>T" ], "proteinEffect": { "hgvs": "XP_005248776.1:p.Arg849Ter", "hgvsWellDefined": "XP_005248776.1:p.Arg849_Lys1294delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533143" }, { "coordinates": [ { "allele": "T", "end": 2813, "referenceAllele": "C", "start": 2812 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248720.4:c.2545C>T" ], "proteinEffect": { "hgvs": "XP_005248777.1:p.Arg849Ter", "hgvsWellDefined": "XP_005248777.1:p.Arg849_Lys1285delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533144" }, { "coordinates": [ { "allele": "T", "end": 2813, "referenceAllele": "C", "start": 2812 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248721.4:c.2545C>T" ], "proteinEffect": { "hgvs": "XP_005248778.1:p.Arg849Ter", "hgvsWellDefined": "XP_005248778.1:p.Arg849_Lys1281delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533145" }, { "coordinates": [ { "allele": "T", "end": 2813, "referenceAllele": "C", "start": 2812 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248722.4:c.2545C>T" ], "proteinEffect": { "hgvs": "XP_005248779.1:p.Arg849Ter", "hgvsWellDefined": "XP_005248779.1:p.Arg849_Lys1276delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533146" }, { "coordinates": [ { "allele": "T", "end": 2813, "referenceAllele": "C", "start": 2812 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248724.4:c.2545C>T" ], "proteinEffect": { "hgvs": "XP_005248781.1:p.Arg849Ter", "hgvsWellDefined": "XP_005248781.1:p.Arg849_Lys1272delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgAsnAspGlyThrArgProLysMetThrProGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533147" }, { "coordinates": [ { "allele": "T", "end": 2813, "referenceAllele": "C", "start": 2812 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_005248726.4:c.2545C>T" ], "proteinEffect": { "hgvs": "XP_005248783.1:p.Arg849Ter", "hgvsWellDefined": "XP_005248783.1:p.Arg849_Lys1253delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533148" }, { "coordinates": [ { "allele": "T", "end": 2813, "referenceAllele": "C", "start": 2812 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_017010899.2:c.2545C>T" ], "proteinEffect": { "hgvs": "XP_016866388.1:p.Arg849Ter", "hgvsWellDefined": "XP_016866388.1:p.Arg849_Lys1263delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgAsnAspGlyThrArgProLysMetThrProGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564858" }, { "coordinates": [ { "allele": "T", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_024446447.1:c.2545C>T" ], "proteinEffect": { "hgvs": "XP_024302215.1:p.Arg849Ter", "hgvsWellDefined": "XP_024302215.1:p.Arg849_Lys1294delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580109" }, { "coordinates": [ { "allele": "T", "end": 2813, "referenceAllele": "C", "start": 2812 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "XM_024446448.1:c.2545C>T" ], "proteinEffect": { "hgvs": "XP_024302216.1:p.Arg849Ter", "hgvsWellDefined": "XP_024302216.1:p.Arg849_Lys1272delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580110" }, { "@id": "http://reg.genome.network/allele/PA254508", "coordinates": [ { "allele": "T", "end": 2777, "referenceAllele": "C", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_004999.4:c.2545C>T" ], "proteinEffect": { "hgvs": "NP_004990.3:p.Arg849Ter", "hgvsWellDefined": "NP_004990.3:p.Arg849_Lys1285delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666761", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000369977.8:c.2545C>T" }, "RefSeq": { "hgvs": "NM_004999.4:c.2545C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000358994.3:p.Arg849Ter" }, "RefSeq": { "hgvs": "NP_004990.3:p.Arg849Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826854536", "coordinates": [ { "allele": "T", "end": 2777, "referenceAllele": "C", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_001300899.2:c.2545C>T" ], "proteinEffect": { "hgvs": "NP_001287828.1:p.Arg849Ter", "hgvsWellDefined": "NP_001287828.1:p.Arg849_Lys1262delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683230" }, { "@id": "http://reg.genome.network/allele/PA2828284913", "coordinates": [ { "allele": "T", "end": 2777, "referenceAllele": "C", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_001368136.1:c.2545C>T" ], "proteinEffect": { "hgvs": "NP_001355065.1:p.Arg849Ter", "hgvsWellDefined": "NP_001355065.1:p.Arg849_Lys1253delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691367" }, { "@id": "http://reg.genome.network/allele/PA2828285273", "coordinates": [ { "allele": "T", "end": 2777, "referenceAllele": "C", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_001368137.1:c.2545C>T" ], "proteinEffect": { "hgvs": "NP_001355066.1:p.Arg849Ter", "hgvsWellDefined": "NP_001355066.1:p.Arg849_Lys1272delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691368" }, { "@id": "http://reg.genome.network/allele/PA2828285631", "coordinates": [ { "allele": "T", "end": 2762, "referenceAllele": "C", "start": 2761 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_001368138.1:c.2530C>T" ], "proteinEffect": { "hgvs": "NP_001355067.1:p.Arg844Ter", "hgvsWellDefined": "NP_001355067.1:p.Arg844_Lys1257delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691369" }, { "@id": "http://reg.genome.network/allele/PA2828290789", "coordinates": [ { "allele": "T", "end": 2777, "referenceAllele": "C", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_001368865.1:c.2545C>T" ], "proteinEffect": { "hgvs": "NP_001355794.1:p.Arg849Ter", "hgvsWellDefined": "NP_001355794.1:p.Arg849_Lys1294delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAspPheAlaProPheLeuAsnAsnSerProGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691442" }, { "@id": "http://reg.genome.network/allele/PA2828291117", "coordinates": [ { "allele": "T", "end": 2777, "referenceAllele": "C", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NM_001368866.1:c.2545C>T" ], "proteinEffect": { "hgvs": "NP_001355795.1:p.Arg849Ter", "hgvsWellDefined": "NP_001355795.1:p.Arg849_Lys1285delinsLeuAspLysPheAsnGluValValSerValLeuLysAspGlyLysProGluMetAsnLysGlnIleLysAsnLeuGluIleSerIleAspThrLeuMetAlaLysIleLysSerThrMetMetThrGlnGluGlnIleGlnLysGluTyrAspAlaLeuValLysSerSerGluGluLeuLeuSerAlaLeuGlnLysLysLysGlnGlnGluGluGluAlaGluArgLeuArgArgIleGlnGluGluMetGluLysGluArgLysArgArgGluGluAspGluLysArgArgArgLysGluGluGluGluArgArgMetLysLeuGluMetGluAlaLysArgLysGlnGluGluGluGluArgLysLysArgGluAspAspGluLysArgIleGlnAlaGluValGluAlaGlnLeuAlaArgGlnLysGluGluGluSerGlnGlnGlnAlaValLeuGluGlnGluArgArgAspArgGluLeuAlaLeuArgIleAlaGlnSerGluAlaGluLeuIleSerAspGluAlaGlnAlaAspLeuAlaLeuArgSerLeuAspSerTyrProValThrSerLysAsnAspGlyThrArgProLysMetThrProGluGlnMetAlaLysGluMetSerGluPheLeuSerArgGlyProAlaValLeuAlaThrLysAlaAlaAlaGlyThrLysLysTyrAspLeuSerLysTrpLysTyrAlaGluLeuArgAspThrIleAsnThrSerCysAspIleGluLeuLeuAlaAlaCysArgGluGluPheHisArgArgLeuLysValTyrHisAlaTrpLysSerLysAsnLysLysArgAsnThrGluThrGluGlnArgAlaProLysSerValThrAspTyrAlaGlnGlnAsnProAlaAlaGlnIleProAlaArgGlnArgGluIleGluMetAsnArgGlnGlnArgPhePheArgIleProPheIleArgProAlaAspGlnTyrLysAspProGlnSerLysLysLysGlyTrpTrpTyrAlaHisPheAspGlyProTrpIleAlaArgGlnMetGluLeuHisProAspLysProProIleLeuLeuValAlaGlyLysAspAspMetGluMetCysGluLeuAsnLeuGluGluThrGlyLeuThrArgLysArgGlyAlaGluIleLeuProArgGlnPheGluGluIleTrpGluArgCysGlyGlyIleGlnTyrLeuGlnAsnAlaIleGluSerArgGlnAlaArgProThrTyrAlaThrAlaMetLeuGlnSerLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691443" }, { "coordinates": [ { "allele": "T", "end": 2870, "referenceAllele": "C", "start": 2869 } ], "gene": "http://reg.genome.network/gene/GN007605", "geneNCBI_id": 4646, "geneSymbol": "MYO6", "hgvs": [ "NR_160538.1:n.2870C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705098" } ], "type": "nucleotide" }