{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA278682", "communityStandardTitle": [ "NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52452[alleleid]", "alleleId": 52452, "preferredName": "NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43282", "RCV": [ "RCV000036187", "RCV000413379", "RCV000669320", "RCV001074754", "RCV001273512" ], "variationId": 43282 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-76915186-C-T", "id": "11-76915186-C-T", "variant": "11:76915186 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.76915186C>T?assembly=hg19", "id": "chr11:g.76915186C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.77204141C>T?assembly=hg38", "id": "chr11:g.77204141C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397516317", "rs": 397516317 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-76915186-C-T?dataset=gnomad_r2_1", "id": "11-76915186-C-T", "variant": "11:76915186 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-77204141-C-T?dataset=gnomad_r3", "id": "11-77204141-C-T", "variant": "11:77204141 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-77204141-C-T?dataset=gnomad_r4", "id": "11-77204141-C-T", "variant": "11:77204141 C / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 77204141, "referenceAllele": "C", "start": 77204140 } ], "hgvs": [ "NC_000011.10:g.77204141C>T", "CM000673.2:g.77204141C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 76915186, "referenceAllele": "C", "start": 76915185 } ], "hgvs": [ "NC_000011.9:g.76915186C>T", "CM000673.1:g.76915186C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 76592834, "referenceAllele": "C", "start": 76592833 } ], "hgvs": [ "NC_000011.8:g.76592834C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 80877, "referenceAllele": "C", "start": 80876 } ], "hgvs": [ "NG_009086.1:g.80877C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001419" }, { "coordinates": [ { "allele": "T", "end": 80896, "referenceAllele": "C", "start": 80895 } ], "hgvs": [ "NG_009086.2:g.80896C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706092" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 5682, "referenceAllele": "C", "start": 5681 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409709.9:c.5392C>T" ], "proteinEffect": { "hgvs": "ENSP00000386331.3:p.Gln1798Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS754325", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409709.9:c.5392C>T" }, "RefSeq": { "hgvs": "NM_000260.4:c.5392C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386331.3:p.Gln1798Ter" }, "RefSeq": { "hgvs": "NP_000251.3:p.Gln1798Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3219, "referenceAllele": "C", "start": 3218 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000670577.1:c.3219C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773106" }, { "coordinates": [ { "allele": "T", "end": 5592, "referenceAllele": "C", "start": 5591 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409619.6:c.5245C>T" ], "proteinEffect": { "hgvs": "ENSP00000386635.2:p.Gln1749Ter", "hgvsWellDefined": "ENSP00000386635.2:p.Gln1749_Lys2166delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281706" }, { "coordinates": [ { "allele": "T", "end": 5664, "referenceAllele": "C", "start": 5663 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000409709.7:c.5392C>T" ], "proteinEffect": { "hgvs": "ENSP00000386331.3:p.Gln1798Ter", "hgvsWellDefined": "ENSP00000386331.3:p.Gln1798_Lys2215delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281784" }, { "coordinates": [ { "allele": "T", "end": 2818, "referenceAllele": "C", "start": 2817 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000458169.2:c.2818C>T" ], "proteinEffect": { "hgvs": "ENSP00000417017.2:p.Gln940Ter", "hgvsWellDefined": "ENSP00000417017.2:p.Gln940_Lys1357delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304279" }, { "coordinates": [ { "allele": "T", "end": 5544, "referenceAllele": "C", "start": 5543 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000458637.6:c.5278C>T" ], "proteinEffect": { "hgvs": "ENSP00000392185.2:p.Gln1760Ter", "hgvsWellDefined": "ENSP00000392185.2:p.Gln1760_Lys2175delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304499" }, { "coordinates": [ { "allele": "T", "end": 2928, "referenceAllele": "C", "start": 2927 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000481328.7:n.2928C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321269" }, { "coordinates": [ { "allele": "T", "end": 98, "referenceAllele": "C", "start": 97 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "ENST00000605744.1:n.98C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS399561" }, { "@id": "http://reg.genome.network/allele/PA278683", "coordinates": [ { "allele": "T", "end": 5664, "referenceAllele": "C", "start": 5663 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_000260.3:c.5392C>T" ], "proteinEffect": { "hgvs": "NP_000251.3:p.Gln1798Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006322" }, { "@id": "http://reg.genome.network/allele/PA2825627553", "coordinates": [ { "allele": "T", "end": 5544, "referenceAllele": "C", "start": 5543 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127180.1:c.5278C>T" ], "proteinEffect": { "hgvs": "NP_001120652.1:p.Gln1760Ter", "hgvsWellDefined": "NP_001120652.1:p.Gln1760_Lys2175delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011524" }, { "coordinates": [ { "allele": "T", "end": 5593, "referenceAllele": "C", "start": 5592 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_005274012.2:c.5275C>T" ], "proteinEffect": { "hgvs": "XP_005274069.1:p.Gln1759Ter", "hgvsWellDefined": "XP_005274069.1:p.Gln1759_Lys2176delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067798" }, { "coordinates": [ { "allele": "T", "end": 5703, "referenceAllele": "C", "start": 5702 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718558.2:c.5383C>T" ], "proteinEffect": { "hgvs": "XP_006718621.1:p.Gln1795Ter", "hgvsWellDefined": "XP_006718621.1:p.Gln1795_Ser2225delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072695" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "C", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718559.2:c.5278C>T" ], "proteinEffect": { "hgvs": "XP_006718622.1:p.Gln1760Ter", "hgvsWellDefined": "XP_006718622.1:p.Gln1760_Ser2190delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072696" }, { "coordinates": [ { "allele": "T", "end": 5595, "referenceAllele": "C", "start": 5594 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718560.2:c.5275C>T" ], "proteinEffect": { "hgvs": "XP_006718623.1:p.Gln1759Ter", "hgvsWellDefined": "XP_006718623.1:p.Gln1759_Ser2189delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072697" }, { "coordinates": [ { "allele": "T", "end": 5596, "referenceAllele": "C", "start": 5595 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_006718561.2:c.5278C>T" ], "proteinEffect": { "hgvs": "XP_006718624.1:p.Gln1760Ter", "hgvsWellDefined": "XP_006718624.1:p.Gln1760_Lys2177delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072698" }, { "coordinates": [ { "allele": "T", "end": 5712, "referenceAllele": "C", "start": 5711 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545044.1:c.5392C>T" ], "proteinEffect": { "hgvs": "XP_011543346.1:p.Gln1798Ter", "hgvsWellDefined": "XP_011543346.1:p.Gln1798_Ser2228delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111951" }, { "coordinates": [ { "allele": "T", "end": 5706, "referenceAllele": "C", "start": 5705 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545045.1:c.5386C>T" ], "proteinEffect": { "hgvs": "XP_011543347.1:p.Gln1796Ter", "hgvsWellDefined": "XP_011543347.1:p.Gln1796_Ser2226delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111952" }, { "coordinates": [ { "allele": "T", "end": 5394, "referenceAllele": "C", "start": 5393 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545046.1:c.5359C>T" ], "proteinEffect": { "hgvs": "XP_011543348.1:p.Gln1787Ter", "hgvsWellDefined": "XP_011543348.1:p.Gln1787_Ser2217delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111953" }, { "coordinates": [ { "allele": "T", "end": 5616, "referenceAllele": "C", "start": 5615 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545047.1:c.5296C>T" ], "proteinEffect": { "hgvs": "XP_011543349.1:p.Gln1766Ter", "hgvsWellDefined": "XP_011543349.1:p.Gln1766_Ser2196delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111954" }, { "coordinates": [ { "allele": "T", "end": 5487, "referenceAllele": "C", "start": 5486 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545048.1:c.5167C>T" ], "proteinEffect": { "hgvs": "XP_011543350.1:p.Gln1723Ter", "hgvsWellDefined": "XP_011543350.1:p.Gln1723_Ser2153delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111955" }, { "coordinates": [ { "allele": "T", "end": 5475, "referenceAllele": "C", "start": 5474 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545049.1:c.5155C>T" ], "proteinEffect": { "hgvs": "XP_011543351.1:p.Gln1719Ter", "hgvsWellDefined": "XP_011543351.1:p.Gln1719_Ser2149delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111956" }, { "coordinates": [ { "allele": "T", "end": 5256, "referenceAllele": "C", "start": 5255 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545050.1:c.5128C>T" ], "proteinEffect": { "hgvs": "XP_011543352.1:p.Gln1710Ter", "hgvsWellDefined": "XP_011543352.1:p.Gln1710_Ser2140delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111957" }, { "coordinates": [ { "allele": "T", "end": 5712, "referenceAllele": "C", "start": 5711 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545051.1:c.5392C>T" ], "proteinEffect": { "hgvs": "XP_011543353.1:p.Gln1798Ter", "hgvsWellDefined": "XP_011543353.1:p.Gln1798_Phe2124delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysLeuGlyTrpGluAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111958" }, { "coordinates": [ { "allele": "T", "end": 5713, "referenceAllele": "C", "start": 5712 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545052.1:c.5392C>T" ], "proteinEffect": { "hgvs": "XP_011543354.1:p.Gln1798Ter", "hgvsWellDefined": "XP_011543354.1:p.Gln1798_Pro1849delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleSerAlaSerCysSerProGluSerThrAlaHisSerProSerThrAlaCysAsnGlySerArgLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111959" }, { "coordinates": [ { "allele": "T", "end": 5712, "referenceAllele": "C", "start": 5711 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949938.1:n.5712C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS143251" }, { "coordinates": [ { "allele": "T", "end": 5712, "referenceAllele": "C", "start": 5711 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949941.1:n.5712C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS143252" }, { "coordinates": [ { "allele": "T", "end": 5700, "referenceAllele": "C", "start": 5699 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_949942.1:n.5700C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS143253" }, { "coordinates": [ { "allele": "T", "end": 5736, "referenceAllele": "C", "start": 5735 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545044.2:c.5392C>T" ], "proteinEffect": { "hgvs": "XP_011543346.1:p.Gln1798Ter", "hgvsWellDefined": "XP_011543346.1:p.Gln1798_Ser2228delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555897" }, { "coordinates": [ { "allele": "T", "end": 5497, "referenceAllele": "C", "start": 5496 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545046.2:c.5482C>T" ], "proteinEffect": { "hgvs": "XP_011543348.2:p.Gln1828Ter", "hgvsWellDefined": "XP_011543348.2:p.Gln1828_Ser2258delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555898" }, { "coordinates": [ { "allele": "T", "end": 5345, "referenceAllele": "C", "start": 5344 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_011545050.2:c.5128C>T" ], "proteinEffect": { "hgvs": "XP_011543352.1:p.Gln1710Ter", "hgvsWellDefined": "XP_011543352.1:p.Gln1710_Ser2140delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555899" }, { "coordinates": [ { "allele": "T", "end": 5491, "referenceAllele": "C", "start": 5490 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017778.1:c.5476C>T" ], "proteinEffect": { "hgvs": "XP_016873267.1:p.Gln1826Ter", "hgvsWellDefined": "XP_016873267.1:p.Gln1826_Ser2256delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569886" }, { "coordinates": [ { "allele": "T", "end": 5488, "referenceAllele": "C", "start": 5487 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017779.1:c.5473C>T" ], "proteinEffect": { "hgvs": "XP_016873268.1:p.Gln1825Ter", "hgvsWellDefined": "XP_016873268.1:p.Gln1825_Ser2255delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569887" }, { "coordinates": [ { "allele": "T", "end": 5497, "referenceAllele": "C", "start": 5496 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017780.1:c.5482C>T" ], "proteinEffect": { "hgvs": "XP_016873269.1:p.Gln1828Ter", "hgvsWellDefined": "XP_016873269.1:p.Gln1828_Lys2245delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569888" }, { "coordinates": [ { "allele": "T", "end": 5401, "referenceAllele": "C", "start": 5400 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017781.1:c.5386C>T" ], "proteinEffect": { "hgvs": "XP_016873270.1:p.Gln1796Ter", "hgvsWellDefined": "XP_016873270.1:p.Gln1796_Ser2226delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569889" }, { "coordinates": [ { "allele": "T", "end": 5383, "referenceAllele": "C", "start": 5382 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017782.1:c.5368C>T" ], "proteinEffect": { "hgvs": "XP_016873271.1:p.Gln1790Ter", "hgvsWellDefined": "XP_016873271.1:p.Gln1790_Ser2220delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569890" }, { "coordinates": [ { "allele": "T", "end": 5380, "referenceAllele": "C", "start": 5379 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017783.1:c.5365C>T" ], "proteinEffect": { "hgvs": "XP_016873272.1:p.Gln1789Ter", "hgvsWellDefined": "XP_016873272.1:p.Gln1789_Ser2219delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569891" }, { "coordinates": [ { "allele": "T", "end": 5380, "referenceAllele": "C", "start": 5379 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017784.1:c.5365C>T" ], "proteinEffect": { "hgvs": "XP_016873273.1:p.Gln1789Ter", "hgvsWellDefined": "XP_016873273.1:p.Gln1789_Lys2206delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569892" }, { "coordinates": [ { "allele": "T", "end": 5260, "referenceAllele": "C", "start": 5259 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017785.1:c.5245C>T" ], "proteinEffect": { "hgvs": "XP_016873274.1:p.Gln1749Ter", "hgvsWellDefined": "XP_016873274.1:p.Gln1749_Ser2179delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569893" }, { "coordinates": [ { "allele": "T", "end": 5497, "referenceAllele": "C", "start": 5496 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017786.1:c.5482C>T" ], "proteinEffect": { "hgvs": "XP_016873275.1:p.Gln1828Ter", "hgvsWellDefined": "XP_016873275.1:p.Gln1828_Phe2154delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysLeuGlyTrpGluAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569894" }, { "coordinates": [ { "allele": "T", "end": 5383, "referenceAllele": "C", "start": 5382 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017788.1:c.5368C>T" ], "proteinEffect": { "hgvs": "XP_016873277.1:p.Gln1790Ter", "hgvsWellDefined": "XP_016873277.1:p.Gln1790_Lys2207delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569896" }, { "coordinates": [ { "allele": "T", "end": 5497, "referenceAllele": "C", "start": 5496 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747885.1:n.5497C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595975" }, { "coordinates": [ { "allele": "T", "end": 5497, "referenceAllele": "C", "start": 5496 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747886.1:n.5497C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595976" }, { "coordinates": [ { "allele": "T", "end": 5483, "referenceAllele": "C", "start": 5482 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747887.1:n.5483C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595977" }, { "coordinates": [ { "allele": "T", "end": 5483, "referenceAllele": "C", "start": 5482 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747888.1:n.5483C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595978" }, { "@id": "http://reg.genome.network/allele/PA278683", "coordinates": [ { "allele": "T", "end": 5682, "referenceAllele": "C", "start": 5681 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_000260.4:c.5392C>T" ], "proteinEffect": { "hgvs": "NP_000251.3:p.Gln1798Ter", "hgvsWellDefined": "NP_000251.3:p.Gln1798_Lys2215delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662373", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409709.9:c.5392C>T" }, "RefSeq": { "hgvs": "NM_000260.4:c.5392C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386331.3:p.Gln1798Ter" }, "RefSeq": { "hgvs": "NP_000251.3:p.Gln1798Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825627553", "coordinates": [ { "allele": "T", "end": 5568, "referenceAllele": "C", "start": 5567 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127180.2:c.5278C>T" ], "proteinEffect": { "hgvs": "NP_001120652.1:p.Gln1760Ter", "hgvsWellDefined": "NP_001120652.1:p.Gln1760_Lys2175delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676839" }, { "@id": "http://reg.genome.network/allele/PA2828321324", "coordinates": [ { "allele": "T", "end": 5648, "referenceAllele": "C", "start": 5647 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001369365.1:c.5245C>T" ], "proteinEffect": { "hgvs": "NP_001356294.1:p.Gln1749Ter", "hgvsWellDefined": "NP_001356294.1:p.Gln1749_Lys2166delinsIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691590" } ], "type": "nucleotide" }