{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16042854", "communityStandardTitle": [ "NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360049[alleleid]", "alleleId": 360049, "preferredName": "NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372560", "RCV": [ "RCV000413055", "RCV000670142", "RCV000763280" ], "variationId": 372560 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.76901158C>T?assembly=hg19", "id": "chr11:g.76901158C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.77190113C>T?assembly=hg38", "id": "chr11:g.77190113C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517857", "rs": 1057517857 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-77190113-C-T?dataset=gnomad_r4", "id": "11-77190113-C-T", "variant": "11:77190113 C / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 77190113, "referenceAllele": "C", "start": 77190112 } ], "hgvs": [ "NC_000011.10:g.77190113C>T", "CM000673.2:g.77190113C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 76901158, "referenceAllele": "C", "start": 76901157 } ], "hgvs": [ "NC_000011.9:g.76901158C>T", "CM000673.1:g.76901158C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 76578806, "referenceAllele": "C", "start": 76578805 } ], "hgvs": [ "NC_000011.8:g.76578806C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 66849, "referenceAllele": "C", "start": 66848 } ], "hgvs": [ "NG_009086.1:g.66849C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001419" }, { "coordinates": [ { "allele": "T", "end": 66868, "referenceAllele": "C", "start": 66867 } ], "hgvs": [ "NG_009086.2:g.66868C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706092" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4014, "referenceAllele": "C", "start": 4013 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409709.9:c.3724C>T" ], "proteinEffect": { "hgvs": "ENSP00000386331.3:p.Gln1242Ter", "hgvsWellDefined": "ENSP00000386331.3:p.Gln1242_Lys2215delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754325", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409709.9:c.3724C>T" }, "RefSeq": { "hgvs": "NM_000260.4:c.3724C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386331.3:p.Gln1242Ter" }, "RefSeq": { "hgvs": "NP_000251.3:p.Gln1242Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1565, "referenceAllele": "C", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000670577.1:c.1565C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773106" }, { "coordinates": [ { "allele": "T", "end": 4038, "referenceAllele": "C", "start": 4037 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409619.6:c.3691C>T" ], "proteinEffect": { "hgvs": "ENSP00000386635.2:p.Gln1231Ter", "hgvsWellDefined": "ENSP00000386635.2:p.Gln1231_Lys2166delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281706" }, { "coordinates": [ { "allele": "T", "end": 3996, "referenceAllele": "C", "start": 3995 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409709.7:c.3724C>T" ], "proteinEffect": { "hgvs": "ENSP00000386331.3:p.Gln1242Ter", "hgvsWellDefined": "ENSP00000386331.3:p.Gln1242_Lys2215delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281784" }, { "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000458169.2:c.1267C>T" ], "proteinEffect": { "hgvs": "ENSP00000417017.2:p.Gln423Ter", "hgvsWellDefined": "ENSP00000417017.2:p.Gln423_Lys1357delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304279" }, { "coordinates": [ { "allele": "T", "end": 3990, "referenceAllele": "C", "start": 3989 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000458637.6:c.3724C>T" ], "proteinEffect": { "hgvs": "ENSP00000392185.2:p.Gln1242Ter", "hgvsWellDefined": "ENSP00000392185.2:p.Gln1242_Lys2175delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304499" }, { "coordinates": [ { "allele": "T", "end": 251, "referenceAllele": "C", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000467137.1:n.251C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS310331" }, { "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000481328.7:n.1267C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321269" }, { "@id": "http://reg.genome.network/allele/PA645427362", "coordinates": [ { "allele": "T", "end": 3996, "referenceAllele": "C", "start": 3995 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_000260.3:c.3724C>T" ], "proteinEffect": { "hgvs": "NP_000251.3:p.Gln1242Ter", "hgvsWellDefined": "NP_000251.3:p.Gln1242_Lys2215delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006322" }, { "@id": "http://reg.genome.network/allele/PA915981299", "coordinates": [ { "allele": "T", "end": 3990, "referenceAllele": "C", "start": 3989 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127180.1:c.3724C>T" ], "proteinEffect": { "hgvs": "NP_001120652.1:p.Gln1242Ter", "hgvsWellDefined": "NP_001120652.1:p.Gln1242_Lys2175delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011524" }, { "coordinates": [ { "allele": "T", "end": 4042, "referenceAllele": "C", "start": 4041 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_005274012.2:c.3724C>T" ], "proteinEffect": { "hgvs": "XP_005274069.1:p.Gln1242Ter", "hgvsWellDefined": "XP_005274069.1:p.Gln1242_Lys2176delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067798" }, { "coordinates": [ { "allele": "T", "end": 4044, "referenceAllele": "C", "start": 4043 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718558.2:c.3724C>T" ], "proteinEffect": { "hgvs": "XP_006718621.1:p.Gln1242Ter", "hgvsWellDefined": "XP_006718621.1:p.Gln1242_Ser2225delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysGlnArgHisAlaGlnGlnArgGlyProArgProGlnAlaGlnGlyArgTyrArgValAlaGlyHisSerLeuProGlyPhePheSerProMetLeuLeuCysPheGlnValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072695" }, { "coordinates": [ { "allele": "T", "end": 4044, "referenceAllele": "C", "start": 4043 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718559.2:c.3724C>T" ], "proteinEffect": { "hgvs": "XP_006718622.1:p.Gln1242Ter", "hgvsWellDefined": "XP_006718622.1:p.Gln1242_Ser2190delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072696" }, { "coordinates": [ { "allele": "T", "end": 4044, "referenceAllele": "C", "start": 4043 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718560.2:c.3724C>T" ], "proteinEffect": { "hgvs": "XP_006718623.1:p.Gln1242Ter", "hgvsWellDefined": "XP_006718623.1:p.Gln1242_Ser2189delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072697" }, { "coordinates": [ { "allele": "T", "end": 4042, "referenceAllele": "C", "start": 4041 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718561.2:c.3724C>T" ], "proteinEffect": { "hgvs": "XP_006718624.1:p.Gln1242Ter", "hgvsWellDefined": "XP_006718624.1:p.Gln1242_Lys2177delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072698" }, { "coordinates": [ { "allele": "T", "end": 4044, "referenceAllele": "C", "start": 4043 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545044.1:c.3724C>T" ], "proteinEffect": { "hgvs": "XP_011543346.1:p.Gln1242Ter", "hgvsWellDefined": "XP_011543346.1:p.Gln1242_Ser2228delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111951" }, { "coordinates": [ { "allele": "T", "end": 4044, "referenceAllele": "C", "start": 4043 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545045.1:c.3724C>T" ], "proteinEffect": { "hgvs": "XP_011543347.1:p.Gln1242Ter", "hgvsWellDefined": "XP_011543347.1:p.Gln1242_Ser2226delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysGlnArgHisAlaGlnGlnArgGlyProArgProGlnAlaGlnGlyArgTyrArgValAlaGlyHisSerLeuProGlyPhePheSerProMetLeuLeuCysPheGlnValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111952" }, { "coordinates": [ { "allele": "T", "end": 3726, "referenceAllele": "C", "start": 3725 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545046.1:c.3691C>T" ], "proteinEffect": { "hgvs": "XP_011543348.1:p.Gln1231Ter", "hgvsWellDefined": "XP_011543348.1:p.Gln1231_Ser2217delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111953" }, { "coordinates": [ { "allele": "T", "end": 3954, "referenceAllele": "C", "start": 3953 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545047.1:c.3634C>T" ], "proteinEffect": { "hgvs": "XP_011543349.1:p.Gln1212Ter", "hgvsWellDefined": "XP_011543349.1:p.Gln1212_Ser2196delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysGlnArgHisAlaGlnGlnArgGlyProArgProGlnAlaGlnGlyArgTyrArgValAlaGlyHisSerLeuProGlyPhePheSerProMetLeuLeuCysPheGlnValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111954" }, { "coordinates": [ { "allele": "T", "end": 3825, "referenceAllele": "C", "start": 3824 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545048.1:c.3505C>T" ], "proteinEffect": { "hgvs": "XP_011543350.1:p.Gln1169Ter", "hgvsWellDefined": "XP_011543350.1:p.Gln1169_Ser2153delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysGlnArgHisAlaGlnGlnArgGlyProArgProGlnAlaGlnGlyArgTyrArgValAlaGlyHisSerLeuProGlyPhePheSerProMetLeuLeuCysPheGlnValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111955" }, { "coordinates": [ { "allele": "T", "end": 3813, "referenceAllele": "C", "start": 3812 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545049.1:c.3493C>T" ], "proteinEffect": { "hgvs": "XP_011543351.1:p.Gln1165Ter", "hgvsWellDefined": "XP_011543351.1:p.Gln1165_Ser2149delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysGlnArgHisAlaGlnGlnArgGlyProArgProGlnAlaGlnGlyArgTyrArgValAlaGlyHisSerLeuProGlyPhePheSerProMetLeuLeuCysPheGlnValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111956" }, { "coordinates": [ { "allele": "T", "end": 3594, "referenceAllele": "C", "start": 3593 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545050.1:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_011543352.1:p.Gln1156Ter", "hgvsWellDefined": "XP_011543352.1:p.Gln1156_Ser2140delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysGlnArgHisAlaGlnGlnArgGlyProArgProGlnAlaGlnGlyArgTyrArgValAlaGlyHisSerLeuProGlyPhePheSerProMetLeuLeuCysPheGlnValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111957" }, { "coordinates": [ { "allele": "T", "end": 4044, "referenceAllele": "C", "start": 4043 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545051.1:c.3724C>T" ], "proteinEffect": { "hgvs": "XP_011543353.1:p.Gln1242Ter", "hgvsWellDefined": "XP_011543353.1:p.Gln1242_Phe2124delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysLeuGlyTrpGluAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111958" }, { "coordinates": [ { "allele": "T", "end": 4045, "referenceAllele": "C", "start": 4044 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545052.1:c.3724C>T" ], "proteinEffect": { "hgvs": "XP_011543354.1:p.Gln1242Ter", "hgvsWellDefined": "XP_011543354.1:p.Gln1242_Pro1849delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleSerAlaSerCysSerProGluSerThrAlaHisSerProSerThrAlaCysAsnGlySerArgLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111959" }, { "coordinates": [ { "allele": "T", "end": 4044, "referenceAllele": "C", "start": 4043 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949938.1:n.4044C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS143251" }, { "coordinates": [ { "allele": "T", "end": 4044, "referenceAllele": "C", "start": 4043 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949941.1:n.4044C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS143252" }, { "coordinates": [ { "allele": "T", "end": 4046, "referenceAllele": "C", "start": 4045 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949942.1:n.4046C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS143253" }, { "coordinates": [ { "allele": "T", "end": 4046, "referenceAllele": "C", "start": 4045 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949943.1:n.4046C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS143254" }, { "coordinates": [ { "allele": "T", "end": 4068, "referenceAllele": "C", "start": 4067 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545044.2:c.3724C>T" ], "proteinEffect": { "hgvs": "XP_011543346.1:p.Gln1242Ter", "hgvsWellDefined": "XP_011543346.1:p.Gln1242_Ser2228delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555897" }, { "coordinates": [ { "allele": "T", "end": 3829, "referenceAllele": "C", "start": 3828 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545046.2:c.3814C>T" ], "proteinEffect": { "hgvs": "XP_011543348.2:p.Gln1272Ter", "hgvsWellDefined": "XP_011543348.2:p.Gln1272_Ser2258delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555898" }, { "coordinates": [ { "allele": "T", "end": 3683, "referenceAllele": "C", "start": 3682 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545050.2:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_011543352.1:p.Gln1156Ter", "hgvsWellDefined": "XP_011543352.1:p.Gln1156_Ser2140delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysGlnArgHisAlaGlnGlnArgGlyProArgProGlnAlaGlnGlyArgTyrArgValAlaGlyHisSerLeuProGlyPhePheSerProMetLeuLeuCysPheGlnValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555899" }, { "coordinates": [ { "allele": "T", "end": 3829, "referenceAllele": "C", "start": 3828 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017778.1:c.3814C>T" ], "proteinEffect": { "hgvs": "XP_016873267.1:p.Gln1272Ter", "hgvsWellDefined": "XP_016873267.1:p.Gln1272_Ser2256delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysGlnArgHisAlaGlnGlnArgGlyProArgProGlnAlaGlnGlyArgTyrArgValAlaGlyHisSerLeuProGlyPhePheSerProMetLeuLeuCysPheGlnValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569886" }, { "coordinates": [ { "allele": "T", "end": 3829, "referenceAllele": "C", "start": 3828 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017779.1:c.3814C>T" ], "proteinEffect": { "hgvs": "XP_016873268.1:p.Gln1272Ter", "hgvsWellDefined": "XP_016873268.1:p.Gln1272_Ser2255delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysGlnArgHisAlaGlnGlnArgGlyProArgProGlnAlaGlnGlyArgTyrArgValAlaGlyHisSerLeuProGlyPhePheSerProMetLeuLeuCysPheGlnValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569887" }, { "coordinates": [ { "allele": "T", "end": 3829, "referenceAllele": "C", "start": 3828 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017780.1:c.3814C>T" ], "proteinEffect": { "hgvs": "XP_016873269.1:p.Gln1272Ter", "hgvsWellDefined": "XP_016873269.1:p.Gln1272_Lys2245delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569888" }, { "coordinates": [ { "allele": "T", "end": 3739, "referenceAllele": "C", "start": 3738 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017781.1:c.3724C>T" ], "proteinEffect": { "hgvs": "XP_016873270.1:p.Gln1242Ter", "hgvsWellDefined": "XP_016873270.1:p.Gln1242_Ser2226delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysGlnArgHisAlaGlnGlnArgGlyProArgProGlnAlaGlnGlyArgTyrArgValAlaGlyHisSerLeuProGlyPhePheSerProMetLeuLeuCysPheGlnValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569889" }, { "coordinates": [ { "allele": "T", "end": 3829, "referenceAllele": "C", "start": 3828 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017782.1:c.3814C>T" ], "proteinEffect": { "hgvs": "XP_016873271.1:p.Gln1272Ter", "hgvsWellDefined": "XP_016873271.1:p.Gln1272_Ser2220delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569890" }, { "coordinates": [ { "allele": "T", "end": 3829, "referenceAllele": "C", "start": 3828 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017783.1:c.3814C>T" ], "proteinEffect": { "hgvs": "XP_016873272.1:p.Gln1272Ter", "hgvsWellDefined": "XP_016873272.1:p.Gln1272_Ser2219delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569891" }, { "coordinates": [ { "allele": "T", "end": 3829, "referenceAllele": "C", "start": 3828 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017784.1:c.3814C>T" ], "proteinEffect": { "hgvs": "XP_016873273.1:p.Gln1272Ter", "hgvsWellDefined": "XP_016873273.1:p.Gln1272_Lys2206delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569892" }, { "coordinates": [ { "allele": "T", "end": 3598, "referenceAllele": "C", "start": 3597 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017785.1:c.3583C>T" ], "proteinEffect": { "hgvs": "XP_016873274.1:p.Gln1195Ter", "hgvsWellDefined": "XP_016873274.1:p.Gln1195_Ser2179delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysGlnArgHisAlaGlnGlnArgGlyProArgProGlnAlaGlnGlyArgTyrArgValAlaGlyHisSerLeuProGlyPhePheSerProMetLeuLeuCysPheGlnValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569893" }, { "coordinates": [ { "allele": "T", "end": 3829, "referenceAllele": "C", "start": 3828 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017786.1:c.3814C>T" ], "proteinEffect": { "hgvs": "XP_016873275.1:p.Gln1272Ter", "hgvsWellDefined": "XP_016873275.1:p.Gln1272_Phe2154delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysLeuGlyTrpGluAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569894" }, { "coordinates": [ { "allele": "T", "end": 3829, "referenceAllele": "C", "start": 3828 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017787.1:c.3814C>T" ], "proteinEffect": { "hgvs": "XP_016873276.1:p.Gln1272Ter", "hgvsWellDefined": "XP_016873276.1:p.Gln1272_Gly1451delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysGlnArgHisAlaGlnGlnArgGlyProArgProGlnAlaGlnGlyArgTyrArgValAlaGlyHisSerLeuProGlyPhePheSerProMetLeuLeuCysPheGlnValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569895" }, { "coordinates": [ { "allele": "T", "end": 3829, "referenceAllele": "C", "start": 3828 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017788.1:c.3814C>T" ], "proteinEffect": { "hgvs": "XP_016873277.1:p.Gln1272Ter", "hgvsWellDefined": "XP_016873277.1:p.Gln1272_Lys2207delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569896" }, { "coordinates": [ { "allele": "T", "end": 3829, "referenceAllele": "C", "start": 3828 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747885.1:n.3829C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595975" }, { "coordinates": [ { "allele": "T", "end": 3829, "referenceAllele": "C", "start": 3828 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747886.1:n.3829C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595976" }, { "coordinates": [ { "allele": "T", "end": 3829, "referenceAllele": "C", "start": 3828 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747887.1:n.3829C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595977" }, { "coordinates": [ { "allele": "T", "end": 3829, "referenceAllele": "C", "start": 3828 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747888.1:n.3829C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595978" }, { "coordinates": [ { "allele": "T", "end": 3829, "referenceAllele": "C", "start": 3828 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747889.1:n.3829C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595979" }, { "@id": "http://reg.genome.network/allele/PA645427362", "coordinates": [ { "allele": "T", "end": 4014, "referenceAllele": "C", "start": 4013 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_000260.4:c.3724C>T" ], "proteinEffect": { "hgvs": "NP_000251.3:p.Gln1242Ter", "hgvsWellDefined": "NP_000251.3:p.Gln1242_Lys2215delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662373", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409709.9:c.3724C>T" }, "RefSeq": { "hgvs": "NM_000260.4:c.3724C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386331.3:p.Gln1242Ter" }, "RefSeq": { "hgvs": "NP_000251.3:p.Gln1242Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915981299", "coordinates": [ { "allele": "T", "end": 4014, "referenceAllele": "C", "start": 4013 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127180.2:c.3724C>T" ], "proteinEffect": { "hgvs": "NP_001120652.1:p.Gln1242Ter", "hgvsWellDefined": "NP_001120652.1:p.Gln1242_Lys2175delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676839" }, { "@id": "http://reg.genome.network/allele/PA2828320710", "coordinates": [ { "allele": "T", "end": 4094, "referenceAllele": "C", "start": 4093 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001369365.1:c.3691C>T" ], "proteinEffect": { "hgvs": "NP_001356294.1:p.Gln1231Ter", "hgvsWellDefined": "NP_001356294.1:p.Gln1231_Lys2166delinsProProSerTrpLeuGluLeuGlnAlaThrLysSerLysLysProIleMetLeuProValThrPheMetAspGlyThrThrLysThrLeuLeuThrAspSerAlaThrThrAlaLysGluLeuCysAsnAlaLeuAlaAspLysIleSerLeuLysAspArgPheGlyPheSerLeuTyrIleAlaLeuPheAspLysValSerSerLeuGlySerGlySerAspHisValMetAspAlaIleSerGlnCysGluGlnTyrAlaLysGluGlnGlyAlaGlnGluArgAsnAlaProTrpArgLeuPhePheArgLysGluValPheThrProTrpHisSerProSerGluAspAsnValAlaThrAsnLeuIleTyrGlnGlnValValArgGlyValLysPheGlyGluTyrArgCysGluLysGluAspAspLeuAlaGluLeuAlaSerGlnGlnTyrPheValAspTyrGlySerGluMetIleLeuGluArgLeuLeuAsnLeuValProThrTyrIleProAspArgGluIleThrProLeuLysThrLeuGluLysTrpAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691590" } ], "type": "nucleotide" }