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"http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017782.1:c.5875C>T" ], "proteinEffect": { "hgvs": "XP_016873271.1:p.Arg1959Ter", "hgvsWellDefined": "XP_016873271.1:p.Arg1959_Ser2220delinsHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569890" }, { "coordinates": [ { "allele": "T", "end": 5887, "referenceAllele": "C", "start": 5886 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017783.1:c.5872C>T" ], "proteinEffect": { "hgvs": "XP_016873272.1:p.Arg1958Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017784.1:c.5872C>T" ], "proteinEffect": { "hgvs": "XP_016873273.1:p.Arg1958Ter", "hgvsWellDefined": "XP_016873273.1:p.Arg1958_Lys2206delinsHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569892" }, { "coordinates": [ { "allele": "T", "end": 5767, "referenceAllele": "C", "start": 5766 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017785.1:c.5752C>T" ], "proteinEffect": { "hgvs": "XP_016873274.1:p.Arg1918Ter", "hgvsWellDefined": "XP_016873274.1:p.Arg1918_Ser2179delinsHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569893" }, { "coordinates": [ { "allele": "T", "end": 6004, "referenceAllele": "C", "start": 6003 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017786.1:c.5989C>T" ], "proteinEffect": { "hgvs": "XP_016873275.1:p.Arg1997Ter", "hgvsWellDefined": "XP_016873275.1:p.Arg1997_Phe2154delinsHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysLeuGlyTrpGluAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569894" }, { "coordinates": [ { "allele": "T", "end": 5890, "referenceAllele": "C", "start": 5889 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XM_017017788.1:c.5875C>T" ], "proteinEffect": { "hgvs": "XP_016873277.1:p.Arg1959Ter", "hgvsWellDefined": "XP_016873277.1:p.Arg1959_Lys2207delinsHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569896" }, { "coordinates": [ { "allele": "T", "end": 6004, "referenceAllele": "C", "start": 6003 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747885.1:n.6004C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595975" }, { "coordinates": [ { "allele": "T", "end": 5919, "referenceAllele": "C", "start": 5918 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747886.1:n.5919C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595976" }, { "coordinates": [ { "allele": "T", "end": 5990, "referenceAllele": "C", "start": 5989 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "XR_001747887.1:n.5990C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595977" }, { "@id": "http://reg.genome.network/allele/PA278735", "coordinates": [ { "allele": "T", "end": 6189, "referenceAllele": "C", "start": 6188 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_000260.4:c.5899C>T" ], "proteinEffect": { "hgvs": "NP_000251.3:p.Arg1967Ter", "hgvsWellDefined": "NP_000251.3:p.Arg1967_Lys2215delinsHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662373", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409709.9:c.5899C>T" }, "RefSeq": { "hgvs": "NM_000260.4:c.5899C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386331.3:p.Arg1967Ter" }, "RefSeq": { "hgvs": "NP_000251.3:p.Arg1967Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825627837", "coordinates": [ { "allele": "T", "end": 6075, "referenceAllele": "C", "start": 6074 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001127180.2:c.5785C>T" ], "proteinEffect": { "hgvs": "NP_001120652.1:p.Arg1929Ter", "hgvsWellDefined": "NP_001120652.1:p.Arg1929_Lys2175delinsHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676839" }, { "@id": "http://reg.genome.network/allele/PA2828321518", "coordinates": [ { "allele": "T", "end": 6155, "referenceAllele": "C", "start": 6154 } ], "gene": "http://reg.genome.network/gene/GN007606", "geneNCBI_id": 4647, "geneSymbol": "MYO7A", "hgvs": [ "NM_001369365.1:c.5752C>T" ], "proteinEffect": { "hgvs": "NP_001356294.1:p.Arg1918Ter", "hgvsWellDefined": "NP_001356294.1:p.Arg1918_Lys2166delinsHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691590" } ], "type": "nucleotide" }