{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401236213", "communityStandardTitle": [ "NM_001127198.5(TMC6):c.190C>T (p.Gln64Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1380112[alleleid]", "alleleId": 1380112, "preferredName": "NM_001127198.5(TMC6):c.190C>T (p.Gln64Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1455852", "RCV": [ "RCV001950856" ], "variationId": 1455852 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.76122439G>A?assembly=hg19", "id": "chr17:g.76122439G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.78126358G>A?assembly=hg38", "id": "chr17:g.78126358G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1296234074", "rs": 1296234074 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-78126358-G-A?dataset=gnomad_r3", "id": "17-78126358-G-A", "variant": "17:78126358 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-78126358-G-A?dataset=gnomad_r4", "id": "17-78126358-G-A", "variant": "17:78126358 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 78126358, "referenceAllele": "G", "start": 78126357 } ], "hgvs": [ "NC_000017.11:g.78126358G>A", "CM000679.2:g.78126358G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 76122439, "referenceAllele": "G", "start": 76122438 } ], "hgvs": [ "NC_000017.10:g.76122439G>A", "CM000679.1:g.76122439G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 73634034, "referenceAllele": "G", "start": 73634033 } ], "hgvs": [ "NC_000017.9:g.73634034G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 11050, "referenceAllele": "C", "start": 11049 } ], "hgvs": [ "NG_007879.1:g.11050C>T", "LRG_118:g.11050C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000687" }, { "coordinates": [ { "allele": "A", "end": 581, "referenceAllele": "G", "start": 580 } ], "hgvs": [ "NG_007881.1:g.581G>A", "LRG_119:g.581G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000689" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 438, "referenceAllele": "C", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589271.6:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000468255.2:p.Gln64Ter", "hgvsWellDefined": "ENSP00000468255.2:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906091" }, { "coordinates": [ { "allele": "T", "end": 476, "referenceAllele": "C", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000592063.6:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000466885.2:p.Gln64Ter", "hgvsWellDefined": "ENSP00000466885.2:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906111" }, { "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698546.1:c.*12C>T" ], "proteinEffect": { "hgvs": "ENSP00000513789.1:n.*12C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS909503" }, { "coordinates": [ { "allele": "T", "end": 382, "referenceAllele": "C", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698547.1:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000513790.1:p.Gln64Ter", "hgvsWellDefined": "ENSP00000513790.1:p.Gln65_Pro194delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgProCysThrAlaTrpAlaTrpArgCysSerProProCysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909504" }, { "coordinates": [ { "allele": "T", "end": 391, "referenceAllele": "C", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698548.1:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000513791.1:p.Gln64Ter", "hgvsWellDefined": "ENSP00000513791.1:p.Gln65_Ala745delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909505" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698549.1:c.*12C>T" ], "proteinEffect": { "hgvs": "ENSP00000513792.1:n.*12C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS909506" }, { "coordinates": [ { "allele": "T", "end": 404, "referenceAllele": "C", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698550.1:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000513793.1:p.Gln64Ter", "hgvsWellDefined": "ENSP00000513793.1:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909507" }, { "coordinates": [ { "allele": "T", "end": 404, "referenceAllele": "C", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698551.1:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000513794.1:p.Gln64Ter", "hgvsWellDefined": "ENSP00000513794.1:p.Gln65_Gln714delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysGlyGluAlaLeuGluHisLeuArgProLeuProAspProGlyHisHisValArgGlyArgGlnGlyValGlyAlaProProGlyGlyGlyArgProGlnGlyLeuLeuAlaAlaLeuGlyAlaProValProAspGlyLysHisLeuLeuCysLeuProGlyValSerProAlaAlaGlyArgAspLeuProGlnHisProGlyGlyAlaGlyProAlaGlnGlyHisLeuProAlaGlnGlyAlaAspGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909508" }, { "coordinates": [ { "allele": "T", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590602.6:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000465261.1:p.Gln64Ter", "hgvsWellDefined": "ENSP00000465261.1:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761208", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000590602.6:c.190C>T" }, "RefSeq": { "hgvs": "NM_001127198.5:c.190C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000465261.1:p.Gln64Ter" }, "RefSeq": { "hgvs": "NP_001120670.1:p.Gln64Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 283, "referenceAllele": "C", "start": 282 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000306591.11:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000306405.6:p.Gln64Ter", "hgvsWellDefined": "ENSP00000306405.6:p.Gln65_Ala454delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255758" }, { "coordinates": [ { "allele": "T", "end": 331, "referenceAllele": "C", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000322914.7:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000313408.2:p.Gln64Ter", "hgvsWellDefined": "ENSP00000313408.2:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258141" }, { "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "C", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000392467.7:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000376260.2:p.Gln64Ter", "hgvsWellDefined": "ENSP00000376260.2:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275110" }, { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000586126.1:c.*12C>T" ], "proteinEffect": { "hgvs": "ENSP00000466159.1:n.*12C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS389185" }, { "coordinates": [ { "allele": "T", "end": 278, "referenceAllele": "C", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000586697.5:n.278C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389574" }, { "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "C", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000588087.5:n.383C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS390540" }, { "coordinates": [ { "allele": "T", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000588792.5:n.408C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS391033" }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "C", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589271.5:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000468255.1:p.Gln64Ter", "hgvsWellDefined": "ENSP00000468255.1:p.Gln64_Pro286del" }, "referenceSequence": "http://reg.genome.network/refseq/RS391375" }, { "coordinates": [ { "allele": "T", "end": 305, "referenceAllele": "C", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589553.5:c.-395C>T" ], "proteinEffect": { "hgvs": "ENSP00000465359.1:n.-395C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS391568" }, { "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590162.1:n.355C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS391994" }, { "coordinates": [ { "allele": "T", "end": 350, "referenceAllele": "C", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590602.5:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000465261.1:p.Gln64Ter", "hgvsWellDefined": "ENSP00000465261.1:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392304" }, { "coordinates": [ { "allele": "T", "end": 190, "referenceAllele": "C", "start": 189 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000591594.5:n.190C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392976" }, { "coordinates": [ { "allele": "T", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000592063.5:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000466885.1:p.Gln64Ter", "hgvsWellDefined": "ENSP00000466885.1:p.Gln64Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS393304" }, { "coordinates": [ { "allele": "T", "end": 311, "referenceAllele": "C", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000592594.5:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000467016.1:p.Gln64Ter", "hgvsWellDefined": "ENSP00000467016.1:p.Gln64Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS393679" }, { "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "C", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000593044.5:n.378C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS393975" }, { "@id": "http://reg.genome.network/allele/PA2825628594", "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.1:c.190C>T" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Gln64Ter", "hgvsWellDefined": "NP_001120670.1:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011536" }, { "@id": "http://reg.genome.network/allele/PA2573252239", "coordinates": [ { "allele": "T", "end": 331, "referenceAllele": "C", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_007267.6:c.190C>T", "LRG_118t1:c.190C>T" ], "proteinEffect": { "hgvs": "NP_009198.4:p.Gln64Ter", "hgvsWellDefined": "NP_009198.4:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032188" }, { "coordinates": [ { "allele": "T", "end": 476, "referenceAllele": "C", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256995.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_005257052.1:p.Gln64Ter", "hgvsWellDefined": "XP_005257052.1:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061527" }, { "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "C", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256996.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_005257053.1:p.Gln64Ter", "hgvsWellDefined": "XP_005257053.1:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061528" }, { "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "C", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256997.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_005257054.1:p.Gln64Ter", "hgvsWellDefined": "XP_005257054.1:p.Gln65_Ala745delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061529" }, { "coordinates": [ { "allele": "T", "end": 134, "referenceAllele": "C", "start": 133 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256998.1:c.-395C>T" ], "proteinEffect": { "hgvs": "XP_005257055.1:n.-395C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS061530" }, { "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "C", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524255.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011522557.1:p.Gln64Ter", "hgvsWellDefined": "XP_011522557.1:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091383" }, { "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "C", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524256.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011522558.1:p.Gln64Ter", "hgvsWellDefined": "XP_011522558.1:p.Gln65_Ala763delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091384" }, { "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "C", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524258.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011522560.1:p.Gln64Ter", "hgvsWellDefined": "XP_011522560.1:p.Gln65_Ala455delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091386" }, { "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "C", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XR_243632.1:n.378C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116571" }, { "@id": "http://reg.genome.network/allele/PA2825628594", "coordinates": [ { "allele": "T", "end": 447, "referenceAllele": "C", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.2:c.190C>T" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Gln64Ter", "hgvsWellDefined": "NP_001120670.1:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511401" }, { "@id": "http://reg.genome.network/allele/PA2827082515", "coordinates": [ { "allele": "T", "end": 400, "referenceAllele": "C", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001321185.1:c.190C>T" ], "proteinEffect": { "hgvs": "NP_001308114.1:p.Gln64Ter", "hgvsWellDefined": "NP_001308114.1:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514101" }, { "@id": "http://reg.genome.network/allele/PA2573252239", "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_007267.7:c.190C>T" ], "proteinEffect": { "hgvs": "NP_009198.4:p.Gln64Ter", "hgvsWellDefined": "NP_009198.4:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525475" }, { "coordinates": [ { "allele": "T", "end": 425, "referenceAllele": "C", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_017024107.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_016879596.1:p.Gln64Ter", "hgvsWellDefined": "XP_016879596.1:p.Gln65_Ala745delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574737" }, { "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "C", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_017024108.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_016879597.1:p.Gln64Ter", "hgvsWellDefined": "XP_016879597.1:p.Gln65_Ala745delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574738" }, { "coordinates": [ { "allele": "T", "end": 438, "referenceAllele": "C", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450555.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_024306323.1:p.Gln64Ter", "hgvsWellDefined": "XP_024306323.1:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584089" }, { "coordinates": [ { "allele": "T", "end": 549, "referenceAllele": "C", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450556.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_024306324.1:p.Gln64Ter", "hgvsWellDefined": "XP_024306324.1:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584090" }, { "coordinates": [ { "allele": "T", "end": 339, "referenceAllele": "C", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450557.1:c.-395C>T" ], "proteinEffect": { "hgvs": "XP_024306325.1:n.-395C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS584091" }, { "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "C", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XR_001752420.1:n.378C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599126" }, { "@id": "http://reg.genome.network/allele/PA2825628594", "coordinates": [ { "allele": "T", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.5:c.190C>T" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Gln64Ter", "hgvsWellDefined": "NP_001120670.1:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676849", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000590602.6:c.190C>T" }, "RefSeq": { "hgvs": "NM_001127198.5:c.190C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000465261.1:p.Gln64Ter" }, "RefSeq": { "hgvs": "NP_001120670.1:p.Gln64Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828528526", "coordinates": [ { "allele": "T", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374593.1:c.190C>T" ], "proteinEffect": { "hgvs": "NP_001361522.1:p.Gln64Ter", "hgvsWellDefined": "NP_001361522.1:p.Gln65_Ala745delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693328" }, { "@id": "http://reg.genome.network/allele/PA2828529007", "coordinates": [ { "allele": "T", "end": 361, "referenceAllele": "C", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374594.1:c.190C>T" ], "proteinEffect": { "hgvs": "NP_001361523.1:p.Gln64Ter", "hgvsWellDefined": "NP_001361523.1:p.Gln65_Ala745delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693329" }, { "@id": "http://reg.genome.network/allele/PA2828584771", "coordinates": [ { "allele": "T", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001375353.1:c.190C>T" ], "proteinEffect": { "hgvs": "NP_001362282.1:p.Gln64Ter", "hgvsWellDefined": "NP_001362282.1:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693493" }, { "@id": "http://reg.genome.network/allele/PA2828585275", "coordinates": [ { "allele": "T", "end": 476, "referenceAllele": "C", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001375354.1:c.190C>T" ], "proteinEffect": { "hgvs": "NP_001362283.1:p.Gln64Ter", "hgvsWellDefined": "NP_001362283.1:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693494" }, { "@id": "http://reg.genome.network/allele/PA2828529488", "coordinates": [ { "allele": "T", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374596.1:c.190C>T" ], "proteinEffect": { "hgvs": "NP_001361525.1:p.Gln64Ter", "hgvsWellDefined": "NP_001361525.1:p.Gln65_Ala805delinsThrLeuTrpArgProGluGlyThrGlnSerThrAlaThrLeuArgIleLeuAlaSerMetProSerArgThrIleGlyArgSerArgGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721209" }, { "coordinates": [ { "allele": "T", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168288.1:n.408C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731925" }, { "coordinates": [ { "allele": "T", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168289.1:n.408C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731926" }, { "coordinates": [ { "allele": "T", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168290.1:n.408C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731927" }, { "coordinates": [ { "allele": "T", "end": 361, "referenceAllele": "C", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168291.1:n.361C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731928" } ], "type": "nucleotide" }