{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401232769", "communityStandardTitle": [ "NM_001127198.5(TMC6):c.744C>G (p.Tyr248Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.76120752G>C?assembly=hg19", "id": "chr17:g.76120752G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.78124671G>C?assembly=hg38", "id": "chr17:g.78124671G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908329", "rs": 121908329 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 78124671, "referenceAllele": "G", "start": 78124670 } ], "hgvs": [ "NC_000017.11:g.78124671G>C", "CM000679.2:g.78124671G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 76120752, "referenceAllele": "G", "start": 76120751 } ], "hgvs": [ "NC_000017.10:g.76120752G>C", "CM000679.1:g.76120752G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 73632347, "referenceAllele": "G", "start": 73632346 } ], "hgvs": [ "NC_000017.9:g.73632347G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "G", "end": 12737, "referenceAllele": "C", "start": 12736 } ], "hgvs": [ "NG_007879.1:g.12737C>G", "LRG_118:g.12737C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000687" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 992, "referenceAllele": "C", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589271.6:c.744C>G" ], "proteinEffect": { "hgvs": "ENSP00000468255.2:p.Tyr248Ter", "hgvsWellDefined": "ENSP00000468255.2:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906091" }, { "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "C", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000592063.6:c.744C>G" ], "proteinEffect": { "hgvs": "ENSP00000466885.2:p.Tyr248Ter", "hgvsWellDefined": "ENSP00000466885.2:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906111" }, { "coordinates": [ { "allele": "G", "end": 886, "referenceAllele": "C", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698546.1:c.*566C>G" ], "proteinEffect": { "hgvs": "ENSP00000513789.1:n.*566C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS909503" }, { "coordinates": [ { "allele": "G", "end": 839, "referenceAllele": "C", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698547.1:c.*62C>G" ], "proteinEffect": { "hgvs": "ENSP00000513790.1:n.*62C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS909504" }, { "coordinates": [ { "allele": "G", "end": 945, "referenceAllele": "C", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698548.1:c.744C>G" ], "proteinEffect": { "hgvs": "ENSP00000513791.1:p.Tyr248Ter", "hgvsWellDefined": "ENSP00000513791.1:p.Tyr248_Ala745delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909505" }, { "coordinates": [ { "allele": "G", "end": 854, "referenceAllele": "C", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698549.1:c.*566C>G" ], "proteinEffect": { "hgvs": "ENSP00000513792.1:n.*566C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS909506" }, { "coordinates": [ { "allele": "G", "end": 958, "referenceAllele": "C", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698550.1:c.744C>G" ], "proteinEffect": { "hgvs": "ENSP00000513793.1:p.Tyr248Ter", "hgvsWellDefined": "ENSP00000513793.1:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909507" }, { "coordinates": [ { "allele": "G", "end": 958, "referenceAllele": "C", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698551.1:c.744C>G" ], "proteinEffect": { "hgvs": "ENSP00000513794.1:p.Tyr248Ter", "hgvsWellDefined": "ENSP00000513794.1:p.Tyr248_Gln714delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysGlyGluAlaLeuGluHisLeuArgProLeuProAspProGlyHisHisValArgGlyArgGlnGlyValGlyAlaProProGlyGlyGlyArgProGlnGlyLeuLeuAlaAlaLeuGlyAlaProValProAspGlyLysHisLeuLeuCysLeuProGlyValSerProAlaAlaGlyArgAspLeuProGlnHisProGlyGlyAlaGlyProAlaGlnGlyHisLeuProAlaGlnGlyAlaAspGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909508" }, { "coordinates": [ { "allele": "G", "end": 962, "referenceAllele": "C", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590602.6:c.744C>G" ], "proteinEffect": { "hgvs": "ENSP00000465261.1:p.Tyr248Ter", "hgvsWellDefined": "ENSP00000465261.1:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761208", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000590602.6:c.744C>G" }, "RefSeq": { "hgvs": "NM_001127198.5:c.744C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000465261.1:p.Tyr248Ter" }, "RefSeq": { "hgvs": "NP_001120670.1:p.Tyr248Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 837, "referenceAllele": "C", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000306591.11:c.744C>G" ], "proteinEffect": { "hgvs": "ENSP00000306405.6:p.Tyr248Ter", "hgvsWellDefined": "ENSP00000306405.6:p.Tyr248_Ala454delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255758" }, { "coordinates": [ { "allele": "G", "end": 885, "referenceAllele": "C", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000322914.7:c.744C>G" ], "proteinEffect": { "hgvs": "ENSP00000313408.2:p.Tyr248Ter", "hgvsWellDefined": "ENSP00000313408.2:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258141" }, { "coordinates": [ { "allele": "G", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000392467.7:c.744C>G" ], "proteinEffect": { "hgvs": "ENSP00000376260.2:p.Tyr248Ter", "hgvsWellDefined": "ENSP00000376260.2:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275110" }, { "coordinates": [ { "allele": "G", "end": 478, "referenceAllele": "C", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000586271.1:n.478C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS389282" }, { "coordinates": [ { "allele": "G", "end": 937, "referenceAllele": "C", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000588087.5:n.937C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS390540" }, { "coordinates": [ { "allele": "G", "end": 986, "referenceAllele": "C", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589271.5:c.744C>G" ], "proteinEffect": { "hgvs": "ENSP00000468255.1:p.Tyr248Ter", "hgvsWellDefined": "ENSP00000468255.1:p.Tyr248_Pro286del" }, "referenceSequence": "http://reg.genome.network/refseq/RS391375" }, { "coordinates": [ { "allele": "G", "end": 762, "referenceAllele": "C", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589553.5:c.63C>G" ], "proteinEffect": { "hgvs": "ENSP00000465359.1:p.Tyr21Ter", "hgvsWellDefined": "ENSP00000465359.1:p.Tyr21_Ser298delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgCysValAlaAlaHisGluAsnIleIleTrpCysTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS391568" }, { "coordinates": [ { "allele": "G", "end": 904, "referenceAllele": "C", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590602.5:c.744C>G" ], "proteinEffect": { "hgvs": "ENSP00000465261.1:p.Tyr248Ter", "hgvsWellDefined": "ENSP00000465261.1:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392304" }, { "coordinates": [ { "allele": "G", "end": 1324, "referenceAllele": "C", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000593044.5:n.1324C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS393975" }, { "@id": "http://reg.genome.network/allele/PA2825628769", "coordinates": [ { "allele": "G", "end": 987, "referenceAllele": "C", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.1:c.744C>G" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Tyr248Ter", "hgvsWellDefined": "NP_001120670.1:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011536" }, { "@id": "http://reg.genome.network/allele/PA117058", "coordinates": [ { "allele": "G", "end": 885, "referenceAllele": "C", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_007267.6:c.744C>G", "LRG_118t1:c.744C>G" ], "proteinEffect": { "hgvs": "NP_009198.4:p.Tyr248Ter", "hgvsWellDefined": "NP_009198.4:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032188" }, { "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "C", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256995.1:c.744C>G" ], "proteinEffect": { "hgvs": "XP_005257052.1:p.Tyr248Ter", "hgvsWellDefined": "XP_005257052.1:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061527" }, { "coordinates": [ { "allele": "G", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256996.1:c.744C>G" ], "proteinEffect": { "hgvs": "XP_005257053.1:p.Tyr248Ter", "hgvsWellDefined": "XP_005257053.1:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061528" }, { "coordinates": [ { "allele": "G", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256997.1:c.744C>G" ], "proteinEffect": { "hgvs": "XP_005257054.1:p.Tyr248Ter", "hgvsWellDefined": "XP_005257054.1:p.Tyr248_Ala745delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061529" }, { "coordinates": [ { "allele": "G", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256998.1:c.63C>G" ], "proteinEffect": { "hgvs": "XP_005257055.1:p.Tyr21Ter", "hgvsWellDefined": "XP_005257055.1:p.Tyr21_Ala578delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061530" }, { "coordinates": [ { "allele": "G", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524255.1:c.744C>G" ], "proteinEffect": { "hgvs": "XP_011522557.1:p.Tyr248Ter", "hgvsWellDefined": "XP_011522557.1:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091383" }, { "coordinates": [ { "allele": "G", "end": 821, "endIntronDirection": "-", "endIntronOffset": 15, "referenceAllele": "C", "start": 821, "startIntronDirection": "-", "startIntronOffset": 16 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524256.1:c.634-16C>G" ], "proteinEffect": { "hgvs": "XP_011522558.1:n.634-16C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS091384" }, { "coordinates": [ { "allele": "G", "end": 89, "endIntronDirection": "-", "endIntronOffset": 15, "referenceAllele": "C", "start": 89, "startIntronDirection": "-", "startIntronOffset": 16 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524257.1:c.-51-16C>G" ], "proteinEffect": { "hgvs": "XP_011522559.1:n.-51-16C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS091385" }, { "coordinates": [ { "allele": "G", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524258.1:c.744C>G" ], "proteinEffect": { "hgvs": "XP_011522560.1:p.Tyr248Ter", "hgvsWellDefined": "XP_011522560.1:p.Tyr248_Ala455delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091386" }, { "coordinates": [ { "allele": "G", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XR_243632.1:n.932C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS116571" }, { "@id": "http://reg.genome.network/allele/PA2825628769", "coordinates": [ { "allele": "G", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.2:c.744C>G" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Tyr248Ter", "hgvsWellDefined": "NP_001120670.1:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511401" }, { "@id": "http://reg.genome.network/allele/PA2827082775", "coordinates": [ { "allele": "G", "end": 954, "referenceAllele": "C", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001321185.1:c.744C>G" ], "proteinEffect": { "hgvs": "NP_001308114.1:p.Tyr248Ter", "hgvsWellDefined": "NP_001308114.1:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514101" }, { "@id": "http://reg.genome.network/allele/PA117058", "coordinates": [ { "allele": "G", "end": 905, "referenceAllele": "C", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_007267.7:c.744C>G" ], "proteinEffect": { "hgvs": "NP_009198.4:p.Tyr248Ter", "hgvsWellDefined": "NP_009198.4:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525475" }, { "coordinates": [ { "allele": "G", "end": 66, "endIntronDirection": "-", "endIntronOffset": 15, "referenceAllele": "C", "start": 66, "startIntronDirection": "-", "startIntronOffset": 16 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524257.3:c.-51-16C>G" ], "proteinEffect": { "hgvs": "XP_011522559.1:n.-51-16C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS547392" }, { "coordinates": [ { "allele": "G", "end": 979, "referenceAllele": "C", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_017024107.1:c.744C>G" ], "proteinEffect": { "hgvs": "XP_016879596.1:p.Tyr248Ter", "hgvsWellDefined": "XP_016879596.1:p.Tyr248_Ala745delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574737" }, { "coordinates": [ { "allele": "G", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_017024108.1:c.744C>G" ], "proteinEffect": { "hgvs": "XP_016879597.1:p.Tyr248Ter", "hgvsWellDefined": "XP_016879597.1:p.Tyr248_Ala745delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574738" }, { "coordinates": [ { "allele": "G", "end": 992, "referenceAllele": "C", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450555.1:c.744C>G" ], "proteinEffect": { "hgvs": "XP_024306323.1:p.Tyr248Ter", "hgvsWellDefined": "XP_024306323.1:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584089" }, { "coordinates": [ { "allele": "G", "end": 1103, "referenceAllele": "C", "start": 1102 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450556.1:c.744C>G" ], "proteinEffect": { "hgvs": "XP_024306324.1:p.Tyr248Ter", "hgvsWellDefined": "XP_024306324.1:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584090" }, { "coordinates": [ { "allele": "G", "end": 796, "referenceAllele": "C", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450557.1:c.63C>G" ], "proteinEffect": { "hgvs": "XP_024306325.1:p.Tyr21Ter", "hgvsWellDefined": "XP_024306325.1:p.Tyr21_Ala578delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584091" }, { "coordinates": [ { "allele": "G", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XR_001752420.1:n.932C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS599126" }, { "@id": "http://reg.genome.network/allele/PA2825628769", "coordinates": [ { "allele": "G", "end": 962, "referenceAllele": "C", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.5:c.744C>G" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Tyr248Ter", "hgvsWellDefined": "NP_001120670.1:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676849", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000590602.6:c.744C>G" }, "RefSeq": { "hgvs": "NM_001127198.5:c.744C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000465261.1:p.Tyr248Ter" }, "RefSeq": { "hgvs": "NP_001120670.1:p.Tyr248Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828528656", "coordinates": [ { "allele": "G", "end": 962, "referenceAllele": "C", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374593.1:c.744C>G" ], "proteinEffect": { "hgvs": "NP_001361522.1:p.Tyr248Ter", "hgvsWellDefined": "NP_001361522.1:p.Tyr248_Ala745delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693328" }, { "@id": "http://reg.genome.network/allele/PA2828529137", "coordinates": [ { "allele": "G", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374594.1:c.744C>G" ], "proteinEffect": { "hgvs": "NP_001361523.1:p.Tyr248Ter", "hgvsWellDefined": "NP_001361523.1:p.Tyr248_Ala745delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693329" }, { "@id": "http://reg.genome.network/allele/PA2828584901", "coordinates": [ { "allele": "G", "end": 983, "referenceAllele": "C", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001375353.1:c.744C>G" ], "proteinEffect": { "hgvs": "NP_001362282.1:p.Tyr248Ter", "hgvsWellDefined": "NP_001362282.1:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693493" }, { "@id": "http://reg.genome.network/allele/PA2828585405", "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "C", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001375354.1:c.744C>G" ], "proteinEffect": { "hgvs": "NP_001362283.1:p.Tyr248Ter", "hgvsWellDefined": "NP_001362283.1:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693494" }, { "@id": "http://reg.genome.network/allele/PA2828529618", "coordinates": [ { "allele": "G", "end": 983, "referenceAllele": "C", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374596.1:c.744C>G" ], "proteinEffect": { "hgvs": "NP_001361525.1:p.Tyr248Ter", "hgvsWellDefined": "NP_001361525.1:p.Tyr248_Ala805delinsPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721209" }, { "coordinates": [ { "allele": "G", "end": 962, "referenceAllele": "C", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168288.1:n.962C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731925" }, { "coordinates": [ { "allele": "G", "end": 962, "referenceAllele": "C", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168289.1:n.962C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731926" }, { "coordinates": [ { "allele": "G", "end": 865, "referenceAllele": "C", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168290.1:n.865C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731927" }, { "coordinates": [ { "allele": "G", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168291.1:n.915C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731928" } ], "type": "nucleotide" }