{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA278674", "communityStandardTitle": [ "NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52431[alleleid]", "alleleId": 52431, "preferredName": "NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43261", "RCV": [ "RCV000036166", "RCV000670662", "RCV001201930" ], "variationId": 43261 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-76910832-T-A", "id": "11-76910832-T-A", "variant": "11:76910832 T / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.76910832T>A?assembly=hg19", "id": "chr11:g.76910832T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.77199787T>A?assembly=hg38", "id": "chr11:g.77199787T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397516315", "rs": 397516315 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-76910832-T-A?dataset=gnomad_r2_1", "id": "11-76910832-T-A", "variant": "11:76910832 T / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-77199787-T-A?dataset=gnomad_r4", "id": "11-77199787-T-A", "variant": "11:77199787 T / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 77199787, "referenceAllele": "T", "start": 77199786 } ], "hgvs": [ "NC_000011.10:g.77199787T>A", "CM000673.2:g.77199787T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 76910832, "referenceAllele": "T", "start": 76910831 } ], "hgvs": [ "NC_000011.9:g.76910832T>A", "CM000673.1:g.76910832T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 76588480, "referenceAllele": "T", "start": 76588479 } ], "hgvs": [ "NC_000011.8:g.76588480T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 76523, "referenceAllele": "T", "start": 76522 } ], "hgvs": [ "NG_009086.1:g.76523T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001419" }, { "coordinates": [ { "allele": "A", "end": 76542, "referenceAllele": "T", "start": 76541 } ], "hgvs": [ "NG_009086.2:g.76542T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706092" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 5111, "referenceAllele": "T", "start": 5110 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409709.9:c.4821T>A" ], "proteinEffect": { "hgvs": "ENSP00000386331.3:p.Tyr1607Ter", "hgvsWellDefined": "ENSP00000386331.3:p.Tyr1607_Lys2215delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754325", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409709.9:c.4821T>A" }, "RefSeq": { "hgvs": "NM_000260.4:c.4821T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386331.3:p.Tyr1607Ter" }, "RefSeq": { "hgvs": "NP_000251.3:p.Tyr1607Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2662, "referenceAllele": "T", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000670577.1:c.2662T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773106" }, { "coordinates": [ { "allele": "A", "end": 5021, "referenceAllele": "T", "start": 5020 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409619.6:c.4674T>A" ], "proteinEffect": { "hgvs": "ENSP00000386635.2:p.Tyr1558Ter", "hgvsWellDefined": "ENSP00000386635.2:p.Tyr1558_Lys2166delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281706" }, { "coordinates": [ { "allele": "A", "end": 5093, "referenceAllele": "T", "start": 5092 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409709.7:c.4821T>A" ], "proteinEffect": { "hgvs": "ENSP00000386331.3:p.Tyr1607Ter", "hgvsWellDefined": "ENSP00000386331.3:p.Tyr1607_Lys2215delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281784" }, { "coordinates": [ { "allele": "A", "end": 2250, "referenceAllele": "T", "start": 2249 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000458169.2:c.2250T>A" ], "proteinEffect": { "hgvs": "ENSP00000417017.2:p.Tyr750Ter", "hgvsWellDefined": "ENSP00000417017.2:p.Tyr750_Lys1357delinsValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304279" }, { "coordinates": [ { "allele": "A", "end": 4973, "referenceAllele": "T", "start": 4972 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000458637.6:c.4707T>A" ], "proteinEffect": { "hgvs": "ENSP00000392185.2:p.Tyr1569Ter", "hgvsWellDefined": "ENSP00000392185.2:p.Tyr1569_Lys2175delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304499" }, { "coordinates": [ { "allele": "A", "end": 2360, "referenceAllele": "T", "start": 2359 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000481328.7:n.2360T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321269" }, { "@id": "http://reg.genome.network/allele/PA278675", "coordinates": [ { "allele": "A", "end": 5093, "referenceAllele": "T", "start": 5092 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_000260.3:c.4821T>A" ], "proteinEffect": { "hgvs": "NP_000251.3:p.Tyr1607Ter", "hgvsWellDefined": "NP_000251.3:p.Tyr1607_Lys2215delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006322" }, { "@id": "http://reg.genome.network/allele/PA2825627206", "coordinates": [ { "allele": "A", "end": 4973, "referenceAllele": "T", "start": 4972 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127180.1:c.4707T>A" ], "proteinEffect": { "hgvs": "NP_001120652.1:p.Tyr1569Ter", "hgvsWellDefined": "NP_001120652.1:p.Tyr1569_Lys2175delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011524" }, { "coordinates": [ { "allele": "A", "end": 5025, "referenceAllele": "T", "start": 5024 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_005274012.2:c.4707T>A" ], "proteinEffect": { "hgvs": "XP_005274069.1:p.Tyr1569Ter", "hgvsWellDefined": "XP_005274069.1:p.Tyr1569_Lys2176delinsValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067798" }, { "coordinates": [ { "allele": "A", "end": 5135, "referenceAllele": "T", "start": 5134 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718558.2:c.4815T>A" ], "proteinEffect": { "hgvs": "XP_006718621.1:p.Tyr1605Ter", "hgvsWellDefined": "XP_006718621.1:p.Tyr1605_Ser2225delinsValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072695" }, { "coordinates": [ { "allele": "A", "end": 5027, "referenceAllele": "T", "start": 5026 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718559.2:c.4707T>A" ], "proteinEffect": { "hgvs": "XP_006718622.1:p.Tyr1569Ter", "hgvsWellDefined": "XP_006718622.1:p.Tyr1569_Ser2190delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072696" }, { "coordinates": [ { "allele": "A", "end": 5027, "referenceAllele": "T", "start": 5026 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718560.2:c.4707T>A" ], "proteinEffect": { "hgvs": "XP_006718623.1:p.Tyr1569Ter", "hgvsWellDefined": "XP_006718623.1:p.Tyr1569_Ser2189delinsValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072697" }, { "coordinates": [ { "allele": "A", "end": 5025, "referenceAllele": "T", "start": 5024 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718561.2:c.4707T>A" ], "proteinEffect": { "hgvs": "XP_006718624.1:p.Tyr1569Ter", "hgvsWellDefined": "XP_006718624.1:p.Tyr1569_Lys2177delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072698" }, { "coordinates": [ { "allele": "A", "end": 5141, "referenceAllele": "T", "start": 5140 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545044.1:c.4821T>A" ], "proteinEffect": { "hgvs": "XP_011543346.1:p.Tyr1607Ter", "hgvsWellDefined": "XP_011543346.1:p.Tyr1607_Ser2228delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111951" }, { "coordinates": [ { "allele": "A", "end": 5135, "referenceAllele": "T", "start": 5134 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545045.1:c.4815T>A" ], "proteinEffect": { "hgvs": "XP_011543347.1:p.Tyr1605Ter", "hgvsWellDefined": "XP_011543347.1:p.Tyr1605_Ser2226delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111952" }, { "coordinates": [ { "allele": "A", "end": 4823, "referenceAllele": "T", "start": 4822 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545046.1:c.4788T>A" ], "proteinEffect": { "hgvs": "XP_011543348.1:p.Tyr1596Ter", "hgvsWellDefined": "XP_011543348.1:p.Tyr1596_Ser2217delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111953" }, { "coordinates": [ { "allele": "A", "end": 5045, "referenceAllele": "T", "start": 5044 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545047.1:c.4725T>A" ], "proteinEffect": { "hgvs": "XP_011543349.1:p.Tyr1575Ter", "hgvsWellDefined": "XP_011543349.1:p.Tyr1575_Ser2196delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111954" }, { "coordinates": [ { "allele": "A", "end": 4916, "referenceAllele": "T", "start": 4915 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545048.1:c.4596T>A" ], "proteinEffect": { "hgvs": "XP_011543350.1:p.Tyr1532Ter", "hgvsWellDefined": "XP_011543350.1:p.Tyr1532_Ser2153delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111955" }, { "coordinates": [ { "allele": "A", "end": 4904, "referenceAllele": "T", "start": 4903 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545049.1:c.4584T>A" ], "proteinEffect": { "hgvs": "XP_011543351.1:p.Tyr1528Ter", "hgvsWellDefined": "XP_011543351.1:p.Tyr1528_Ser2149delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111956" }, { "coordinates": [ { "allele": "A", "end": 4685, "referenceAllele": "T", "start": 4684 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545050.1:c.4557T>A" ], "proteinEffect": { "hgvs": "XP_011543352.1:p.Tyr1519Ter", "hgvsWellDefined": "XP_011543352.1:p.Tyr1519_Ser2140delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111957" }, { "coordinates": [ { "allele": "A", "end": 5141, "referenceAllele": "T", "start": 5140 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545051.1:c.4821T>A" ], "proteinEffect": { "hgvs": "XP_011543353.1:p.Tyr1607Ter", "hgvsWellDefined": "XP_011543353.1:p.Tyr1607_Phe2124delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysLeuGlyTrpGluAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111958" }, { "coordinates": [ { "allele": "A", "end": 5142, "referenceAllele": "T", "start": 5141 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545052.1:c.4821T>A" ], "proteinEffect": { "hgvs": "XP_011543354.1:p.Tyr1607Ter", "hgvsWellDefined": "XP_011543354.1:p.Tyr1607_Pro1849delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleSerAlaSerCysSerProGluSerThrAlaHisSerProSerThrAlaCysAsnGlySerArgLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111959" }, { "coordinates": [ { "allele": "A", "end": 5141, "referenceAllele": "T", "start": 5140 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949938.1:n.5141T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS143251" }, { "coordinates": [ { "allele": "A", "end": 5141, "referenceAllele": "T", "start": 5140 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949941.1:n.5141T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS143252" }, { "coordinates": [ { "allele": "A", "end": 5143, "referenceAllele": "T", "start": 5142 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949942.1:n.5143T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS143253" }, { "coordinates": [ { "allele": "A", "end": 5165, "referenceAllele": "T", "start": 5164 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545044.2:c.4821T>A" ], "proteinEffect": { "hgvs": "XP_011543346.1:p.Tyr1607Ter", "hgvsWellDefined": "XP_011543346.1:p.Tyr1607_Ser2228delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555897" }, { "coordinates": [ { "allele": "A", "end": 4926, "referenceAllele": "T", "start": 4925 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545046.2:c.4911T>A" ], "proteinEffect": { "hgvs": "XP_011543348.2:p.Tyr1637Ter", "hgvsWellDefined": "XP_011543348.2:p.Tyr1637_Ser2258delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555898" }, { "coordinates": [ { "allele": "A", "end": 4774, "referenceAllele": "T", "start": 4773 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545050.2:c.4557T>A" ], "proteinEffect": { "hgvs": "XP_011543352.1:p.Tyr1519Ter", "hgvsWellDefined": "XP_011543352.1:p.Tyr1519_Ser2140delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555899" }, { "coordinates": [ { "allele": "A", "end": 4920, "referenceAllele": "T", "start": 4919 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017778.1:c.4905T>A" ], "proteinEffect": { "hgvs": "XP_016873267.1:p.Tyr1635Ter", "hgvsWellDefined": "XP_016873267.1:p.Tyr1635_Ser2256delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569886" }, { "coordinates": [ { "allele": "A", "end": 4920, "referenceAllele": "T", "start": 4919 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017779.1:c.4905T>A" ], "proteinEffect": { "hgvs": "XP_016873268.1:p.Tyr1635Ter", "hgvsWellDefined": "XP_016873268.1:p.Tyr1635_Ser2255delinsValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569887" }, { "coordinates": [ { "allele": "A", "end": 4926, "referenceAllele": "T", "start": 4925 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017780.1:c.4911T>A" ], "proteinEffect": { "hgvs": "XP_016873269.1:p.Tyr1637Ter", "hgvsWellDefined": "XP_016873269.1:p.Tyr1637_Lys2245delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569888" }, { "coordinates": [ { "allele": "A", "end": 4830, "referenceAllele": "T", "start": 4829 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017781.1:c.4815T>A" ], "proteinEffect": { "hgvs": "XP_016873270.1:p.Tyr1605Ter", "hgvsWellDefined": "XP_016873270.1:p.Tyr1605_Ser2226delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569889" }, { "coordinates": [ { "allele": "A", "end": 4812, "referenceAllele": "T", "start": 4811 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017782.1:c.4797T>A" ], "proteinEffect": { "hgvs": "XP_016873271.1:p.Tyr1599Ter", "hgvsWellDefined": "XP_016873271.1:p.Tyr1599_Ser2220delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569890" }, { "coordinates": [ { "allele": "A", "end": 4812, "referenceAllele": "T", "start": 4811 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017783.1:c.4797T>A" ], "proteinEffect": { "hgvs": "XP_016873272.1:p.Tyr1599Ter", "hgvsWellDefined": "XP_016873272.1:p.Tyr1599_Ser2219delinsValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569891" }, { "coordinates": [ { "allele": "A", "end": 4812, "referenceAllele": "T", "start": 4811 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017784.1:c.4797T>A" ], "proteinEffect": { "hgvs": "XP_016873273.1:p.Tyr1599Ter", "hgvsWellDefined": "XP_016873273.1:p.Tyr1599_Lys2206delinsValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569892" }, { "coordinates": [ { "allele": "A", "end": 4689, "referenceAllele": "T", "start": 4688 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017785.1:c.4674T>A" ], "proteinEffect": { "hgvs": "XP_016873274.1:p.Tyr1558Ter", "hgvsWellDefined": "XP_016873274.1:p.Tyr1558_Ser2179delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569893" }, { "coordinates": [ { "allele": "A", "end": 4926, "referenceAllele": "T", "start": 4925 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017786.1:c.4911T>A" ], "proteinEffect": { "hgvs": "XP_016873275.1:p.Tyr1637Ter", "hgvsWellDefined": "XP_016873275.1:p.Tyr1637_Phe2154delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysLeuGlyTrpGluAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569894" }, { "coordinates": [ { "allele": "A", "end": 4812, "referenceAllele": "T", "start": 4811 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017788.1:c.4797T>A" ], "proteinEffect": { "hgvs": "XP_016873277.1:p.Tyr1599Ter", "hgvsWellDefined": "XP_016873277.1:p.Tyr1599_Lys2207delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569896" }, { "coordinates": [ { "allele": "A", "end": 4926, "referenceAllele": "T", "start": 4925 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747885.1:n.4926T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595975" }, { "coordinates": [ { "allele": "A", "end": 4926, "referenceAllele": "T", "start": 4925 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747886.1:n.4926T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595976" }, { "coordinates": [ { "allele": "A", "end": 4926, "referenceAllele": "T", "start": 4925 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747887.1:n.4926T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595977" }, { "coordinates": [ { "allele": "A", "end": 4926, "referenceAllele": "T", "start": 4925 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747888.1:n.4926T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595978" }, { "@id": "http://reg.genome.network/allele/PA278675", "coordinates": [ { "allele": "A", "end": 5111, "referenceAllele": "T", "start": 5110 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_000260.4:c.4821T>A" ], "proteinEffect": { "hgvs": "NP_000251.3:p.Tyr1607Ter", "hgvsWellDefined": "NP_000251.3:p.Tyr1607_Lys2215delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662373", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409709.9:c.4821T>A" }, "RefSeq": { "hgvs": "NM_000260.4:c.4821T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386331.3:p.Tyr1607Ter" }, "RefSeq": { "hgvs": "NP_000251.3:p.Tyr1607Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825627206", "coordinates": [ { "allele": "A", "end": 4997, "referenceAllele": "T", "start": 4996 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127180.2:c.4707T>A" ], "proteinEffect": { "hgvs": "NP_001120652.1:p.Tyr1569Ter", "hgvsWellDefined": "NP_001120652.1:p.Tyr1569_Lys2175delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676839" }, { "@id": "http://reg.genome.network/allele/PA2828321087", "coordinates": [ { "allele": "A", "end": 5077, "referenceAllele": "T", "start": 5076 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001369365.1:c.4674T>A" ], "proteinEffect": { "hgvs": "NP_001356294.1:p.Tyr1558Ter", "hgvsWellDefined": "NP_001356294.1:p.Tyr1558_Lys2166delinsValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691590" } ], "type": "nucleotide" }