{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA278665", "communityStandardTitle": [ "NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52406[alleleid]", "alleleId": 52406, "preferredName": "NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43236", "RCV": [ "RCV000036140", "RCV001852747", "RCV001075167", "RCV001835644" ], "variationId": 43236 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.76905539G>A?assembly=hg19", "id": "chr11:g.76905539G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.77194494G>A?assembly=hg38", "id": "chr11:g.77194494G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397516308", "rs": 397516308 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-76905539-G-A?dataset=gnomad_r2_1", "id": "11-76905539-G-A", "variant": "11:76905539 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-77194494-G-A?dataset=gnomad_r3", "id": "11-77194494-G-A", "variant": "11:77194494 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-77194494-G-A?dataset=gnomad_r4", "id": "11-77194494-G-A", "variant": "11:77194494 G / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 77194494, "referenceAllele": "G", "start": 77194493 } ], "hgvs": [ "NC_000011.10:g.77194494G>A", "CM000673.2:g.77194494G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 76905539, "referenceAllele": "G", "start": 76905538 } ], "hgvs": [ "NC_000011.9:g.76905539G>A", "CM000673.1:g.76905539G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 76583187, "referenceAllele": "G", "start": 76583186 } ], "hgvs": [ "NC_000011.8:g.76583187G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 71230, "referenceAllele": "G", "start": 71229 } ], "hgvs": [ "NG_009086.1:g.71230G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001419" }, { "coordinates": [ { "allele": "A", "end": 71249, "referenceAllele": "G", "start": 71248 } ], "hgvs": [ "NG_009086.2:g.71249G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706092" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4583, "referenceAllele": "G", "start": 4582 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409709.9:c.4293G>A" ], "proteinEffect": { "hgvs": "ENSP00000386331.3:p.Trp1431Ter", "hgvsWellDefined": "ENSP00000386331.3:p.Trp1431_Lys2215delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754325", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409709.9:c.4293G>A" }, "RefSeq": { "hgvs": "NM_000260.4:c.4293G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386331.3:p.Trp1431Ter" }, "RefSeq": { "hgvs": "NP_000251.3:p.Trp1431Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2134, "referenceAllele": "G", "start": 2133 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000670577.1:c.2134G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773106" }, { "coordinates": [ { "allele": "A", "end": 4607, "referenceAllele": "G", "start": 4606 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409619.6:c.4260G>A" ], "proteinEffect": { "hgvs": "ENSP00000386635.2:p.Trp1420Ter", "hgvsWellDefined": "ENSP00000386635.2:p.Trp1420_Lys2166delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281706" }, { "coordinates": [ { "allele": "A", "end": 4565, "referenceAllele": "G", "start": 4564 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409709.7:c.4293G>A" ], "proteinEffect": { "hgvs": "ENSP00000386331.3:p.Trp1431Ter", "hgvsWellDefined": "ENSP00000386331.3:p.Trp1431_Lys2215delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281784" }, { "coordinates": [ { "allele": "A", "end": 1836, "referenceAllele": "G", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000458169.2:c.1836G>A" ], "proteinEffect": { "hgvs": "ENSP00000417017.2:p.Trp612Ter", "hgvsWellDefined": "ENSP00000417017.2:p.Trp612_Lys1357delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304279" }, { "coordinates": [ { "allele": "A", "end": 4559, "referenceAllele": "G", "start": 4558 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000458637.6:c.4293G>A" ], "proteinEffect": { "hgvs": "ENSP00000392185.2:p.Trp1431Ter", "hgvsWellDefined": "ENSP00000392185.2:p.Trp1431_Lys2175delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304499" }, { "coordinates": [ { "allele": "A", "end": 1946, "referenceAllele": "G", "start": 1945 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000481328.7:n.1946G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321269" }, { "@id": "http://reg.genome.network/allele/PA278666", "coordinates": [ { "allele": "A", "end": 4565, "referenceAllele": "G", "start": 4564 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_000260.3:c.4293G>A" ], "proteinEffect": { "hgvs": "NP_000251.3:p.Trp1431Ter", "hgvsWellDefined": "NP_000251.3:p.Trp1431_Lys2215delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006322" }, { "@id": "http://reg.genome.network/allele/PA915981403", "coordinates": [ { "allele": "A", "end": 4559, "referenceAllele": "G", "start": 4558 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127180.1:c.4293G>A" ], "proteinEffect": { "hgvs": "NP_001120652.1:p.Trp1431Ter", "hgvsWellDefined": "NP_001120652.1:p.Trp1431_Lys2175delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011524" }, { "coordinates": [ { "allele": "A", "end": 4611, "referenceAllele": "G", "start": 4610 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_005274012.2:c.4293G>A" ], "proteinEffect": { "hgvs": "XP_005274069.1:p.Trp1431Ter", "hgvsWellDefined": "XP_005274069.1:p.Trp1431_Lys2176delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067798" }, { "coordinates": [ { "allele": "A", "end": 4721, "referenceAllele": "G", "start": 4720 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718558.2:c.4401G>A" ], "proteinEffect": { "hgvs": "XP_006718621.1:p.Trp1467Ter", "hgvsWellDefined": "XP_006718621.1:p.Trp1467_Ser2225delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072695" }, { "coordinates": [ { "allele": "A", "end": 4613, "referenceAllele": "G", "start": 4612 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718559.2:c.4293G>A" ], "proteinEffect": { "hgvs": "XP_006718622.1:p.Trp1431Ter", "hgvsWellDefined": "XP_006718622.1:p.Trp1431_Ser2190delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072696" }, { "coordinates": [ { "allele": "A", "end": 4613, "referenceAllele": "G", "start": 4612 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718560.2:c.4293G>A" ], "proteinEffect": { "hgvs": "XP_006718623.1:p.Trp1431Ter", "hgvsWellDefined": "XP_006718623.1:p.Trp1431_Ser2189delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072697" }, { "coordinates": [ { "allele": "A", "end": 4611, "referenceAllele": "G", "start": 4610 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718561.2:c.4293G>A" ], "proteinEffect": { "hgvs": "XP_006718624.1:p.Trp1431Ter", "hgvsWellDefined": "XP_006718624.1:p.Trp1431_Lys2177delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072698" }, { "coordinates": [ { "allele": "A", "end": 4613, "referenceAllele": "G", "start": 4612 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545044.1:c.4293G>A" ], "proteinEffect": { "hgvs": "XP_011543346.1:p.Trp1431Ter", "hgvsWellDefined": "XP_011543346.1:p.Trp1431_Ser2228delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111951" }, { "coordinates": [ { "allele": "A", "end": 4721, "referenceAllele": "G", "start": 4720 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545045.1:c.4401G>A" ], "proteinEffect": { "hgvs": "XP_011543347.1:p.Trp1467Ter", "hgvsWellDefined": "XP_011543347.1:p.Trp1467_Ser2226delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111952" }, { "coordinates": [ { "allele": "A", "end": 4295, "referenceAllele": "G", "start": 4294 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545046.1:c.4260G>A" ], "proteinEffect": { "hgvs": "XP_011543348.1:p.Trp1420Ter", "hgvsWellDefined": "XP_011543348.1:p.Trp1420_Ser2217delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111953" }, { "coordinates": [ { "allele": "A", "end": 4631, "referenceAllele": "G", "start": 4630 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545047.1:c.4311G>A" ], "proteinEffect": { "hgvs": "XP_011543349.1:p.Trp1437Ter", "hgvsWellDefined": "XP_011543349.1:p.Trp1437_Ser2196delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111954" }, { "coordinates": [ { "allele": "A", "end": 4502, "referenceAllele": "G", "start": 4501 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545048.1:c.4182G>A" ], "proteinEffect": { "hgvs": "XP_011543350.1:p.Trp1394Ter", "hgvsWellDefined": "XP_011543350.1:p.Trp1394_Ser2153delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111955" }, { "coordinates": [ { "allele": "A", "end": 4490, "referenceAllele": "G", "start": 4489 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545049.1:c.4170G>A" ], "proteinEffect": { "hgvs": "XP_011543351.1:p.Trp1390Ter", "hgvsWellDefined": "XP_011543351.1:p.Trp1390_Ser2149delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111956" }, { "coordinates": [ { "allele": "A", "end": 4271, "referenceAllele": "G", "start": 4270 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545050.1:c.4143G>A" ], "proteinEffect": { "hgvs": "XP_011543352.1:p.Trp1381Ter", "hgvsWellDefined": "XP_011543352.1:p.Trp1381_Ser2140delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111957" }, { "coordinates": [ { "allele": "A", "end": 4613, "referenceAllele": "G", "start": 4612 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545051.1:c.4293G>A" ], "proteinEffect": { "hgvs": "XP_011543353.1:p.Trp1431Ter", "hgvsWellDefined": "XP_011543353.1:p.Trp1431_Phe2124delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysLeuGlyTrpGluAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111958" }, { "coordinates": [ { "allele": "A", "end": 4614, "referenceAllele": "G", "start": 4613 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545052.1:c.4293G>A" ], "proteinEffect": { "hgvs": "XP_011543354.1:p.Trp1431Ter", "hgvsWellDefined": "XP_011543354.1:p.Trp1431_Pro1849delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleSerAlaSerCysSerProGluSerThrAlaHisSerProSerThrAlaCysAsnGlySerArgLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111959" }, { "coordinates": [ { "allele": "A", "end": 4613, "referenceAllele": "G", "start": 4612 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949938.1:n.4613G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS143251" }, { "coordinates": [ { "allele": "A", "end": 4613, "referenceAllele": "G", "start": 4612 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949941.1:n.4613G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS143252" }, { "coordinates": [ { "allele": "A", "end": 4615, "referenceAllele": "G", "start": 4614 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949942.1:n.4615G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS143253" }, { "coordinates": [ { "allele": "A", "end": 4637, "referenceAllele": "G", "start": 4636 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545044.2:c.4293G>A" ], "proteinEffect": { "hgvs": "XP_011543346.1:p.Trp1431Ter", "hgvsWellDefined": "XP_011543346.1:p.Trp1431_Ser2228delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555897" }, { "coordinates": [ { "allele": "A", "end": 4398, "referenceAllele": "G", "start": 4397 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545046.2:c.4383G>A" ], "proteinEffect": { "hgvs": "XP_011543348.2:p.Trp1461Ter", "hgvsWellDefined": "XP_011543348.2:p.Trp1461_Ser2258delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555898" }, { "coordinates": [ { "allele": "A", "end": 4360, "referenceAllele": "G", "start": 4359 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545050.2:c.4143G>A" ], "proteinEffect": { "hgvs": "XP_011543352.1:p.Trp1381Ter", "hgvsWellDefined": "XP_011543352.1:p.Trp1381_Ser2140delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555899" }, { "coordinates": [ { "allele": "A", "end": 4506, "referenceAllele": "G", "start": 4505 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017778.1:c.4491G>A" ], "proteinEffect": { "hgvs": "XP_016873267.1:p.Trp1497Ter", "hgvsWellDefined": "XP_016873267.1:p.Trp1497_Ser2256delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569886" }, { "coordinates": [ { "allele": "A", "end": 4506, "referenceAllele": "G", "start": 4505 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017779.1:c.4491G>A" ], "proteinEffect": { "hgvs": "XP_016873268.1:p.Trp1497Ter", "hgvsWellDefined": "XP_016873268.1:p.Trp1497_Ser2255delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569887" }, { "coordinates": [ { "allele": "A", "end": 4398, "referenceAllele": "G", "start": 4397 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017780.1:c.4383G>A" ], "proteinEffect": { "hgvs": "XP_016873269.1:p.Trp1461Ter", "hgvsWellDefined": "XP_016873269.1:p.Trp1461_Lys2245delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569888" }, { "coordinates": [ { "allele": "A", "end": 4416, "referenceAllele": "G", "start": 4415 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017781.1:c.4401G>A" ], "proteinEffect": { "hgvs": "XP_016873270.1:p.Trp1467Ter", "hgvsWellDefined": "XP_016873270.1:p.Trp1467_Ser2226delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569889" }, { "coordinates": [ { "allele": "A", "end": 4398, "referenceAllele": "G", "start": 4397 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017782.1:c.4383G>A" ], "proteinEffect": { "hgvs": "XP_016873271.1:p.Trp1461Ter", "hgvsWellDefined": "XP_016873271.1:p.Trp1461_Ser2220delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569890" }, { "coordinates": [ { "allele": "A", "end": 4398, "referenceAllele": "G", "start": 4397 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017783.1:c.4383G>A" ], "proteinEffect": { "hgvs": "XP_016873272.1:p.Trp1461Ter", "hgvsWellDefined": "XP_016873272.1:p.Trp1461_Ser2219delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569891" }, { "coordinates": [ { "allele": "A", "end": 4398, "referenceAllele": "G", "start": 4397 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017784.1:c.4383G>A" ], "proteinEffect": { "hgvs": "XP_016873273.1:p.Trp1461Ter", "hgvsWellDefined": "XP_016873273.1:p.Trp1461_Lys2206delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569892" }, { "coordinates": [ { "allele": "A", "end": 4275, "referenceAllele": "G", "start": 4274 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017785.1:c.4260G>A" ], "proteinEffect": { "hgvs": "XP_016873274.1:p.Trp1420Ter", "hgvsWellDefined": "XP_016873274.1:p.Trp1420_Ser2179delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569893" }, { "coordinates": [ { "allele": "A", "end": 4398, "referenceAllele": "G", "start": 4397 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017786.1:c.4383G>A" ], "proteinEffect": { "hgvs": "XP_016873275.1:p.Trp1461Ter", "hgvsWellDefined": "XP_016873275.1:p.Trp1461_Phe2154delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysLeuGlyTrpGluAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569894" }, { "coordinates": [ { "allele": "A", "end": 4398, "referenceAllele": "G", "start": 4397 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017788.1:c.4383G>A" ], "proteinEffect": { "hgvs": "XP_016873277.1:p.Trp1461Ter", "hgvsWellDefined": "XP_016873277.1:p.Trp1461_Lys2207delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569896" }, { "coordinates": [ { "allele": "A", "end": 4398, "referenceAllele": "G", "start": 4397 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747885.1:n.4398G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595975" }, { "coordinates": [ { "allele": "A", "end": 4398, "referenceAllele": "G", "start": 4397 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747886.1:n.4398G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595976" }, { "coordinates": [ { "allele": "A", "end": 4398, "referenceAllele": "G", "start": 4397 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747887.1:n.4398G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595977" }, { "coordinates": [ { "allele": "A", "end": 4398, "referenceAllele": "G", "start": 4397 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747888.1:n.4398G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595978" }, { "@id": "http://reg.genome.network/allele/PA278666", "coordinates": [ { "allele": "A", "end": 4583, "referenceAllele": "G", "start": 4582 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_000260.4:c.4293G>A" ], "proteinEffect": { "hgvs": "NP_000251.3:p.Trp1431Ter", "hgvsWellDefined": "NP_000251.3:p.Trp1431_Lys2215delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGluCysArgValTrpLeuSerLeuGlyCysSerAspLeuGlyCysAlaAlaProHisSerGlyTrpAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662373", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409709.9:c.4293G>A" }, "RefSeq": { "hgvs": "NM_000260.4:c.4293G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386331.3:p.Trp1431Ter" }, "RefSeq": { "hgvs": "NP_000251.3:p.Trp1431Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915981403", "coordinates": [ { "allele": "A", "end": 4583, "referenceAllele": "G", "start": 4582 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127180.2:c.4293G>A" ], "proteinEffect": { "hgvs": "NP_001120652.1:p.Trp1431Ter", "hgvsWellDefined": "NP_001120652.1:p.Trp1431_Lys2175delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676839" }, { "@id": "http://reg.genome.network/allele/PA2828320935", "coordinates": [ { "allele": "A", "end": 4663, "referenceAllele": "G", "start": 4662 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001369365.1:c.4260G>A" ], "proteinEffect": { "hgvs": "NP_001356294.1:p.Trp1420Ter", "hgvsWellDefined": "NP_001356294.1:p.Trp1420_Lys2166delinsAlaGlnLeuAlaIleAlaAlaHisLysLysGlyIleTyrAlaGlnArgArgThrAspAlaGlnLysValLysGluAspValValSerTyrAlaArgPheLysTrpProLeuLeuPheSerArgPheTyrGluAlaTyrLysPheSerGlyProSerLeuProLysAsnAspValIleValAlaValAsnTrpThrGlyValTyrPheValAspGluGlnGluGlnValLeuLeuGluLeuSerPheProGluIleMetAlaValSerSerSerArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691590" } ], "type": "nucleotide" }