{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA117050", "communityStandardTitle": [ "NM_001127198.5(TMC6):c.280C>T (p.Arg94Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19787[alleleid]", "alleleId": 19787, "preferredName": "NM_001127198.5(TMC6):c.280C>T (p.Arg94Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4748", "RCV": [ "RCV000005014", "RCV002512791" ], "variationId": 4748 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-76121957-G-A", "id": "17-76121957-G-A", "variant": "17:76121957 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.76121957G>A?assembly=hg19", "id": "chr17:g.76121957G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.78125876G>A?assembly=hg38", "id": "chr17:g.78125876G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908327", "rs": 121908327 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-76121957-G-A?dataset=gnomad_r2_1", "id": "17-76121957-G-A", "variant": "17:76121957 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-78125876-G-A?dataset=gnomad_r3", "id": "17-78125876-G-A", "variant": "17:78125876 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-78125876-G-A?dataset=gnomad_r4", "id": "17-78125876-G-A", "variant": "17:78125876 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 78125876, "referenceAllele": "G", "start": 78125875 } ], "hgvs": [ "NC_000017.11:g.78125876G>A", "CM000679.2:g.78125876G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 76121957, "referenceAllele": "G", "start": 76121956 } ], "hgvs": [ "NC_000017.10:g.76121957G>A", "CM000679.1:g.76121957G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 73633552, "referenceAllele": "G", "start": 73633551 } ], "hgvs": [ "NC_000017.9:g.73633552G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 11532, "referenceAllele": "C", "start": 11531 } ], "hgvs": [ "NG_007879.1:g.11532C>T", "LRG_118:g.11532C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000687" }, { "coordinates": [ { "allele": "A", "end": 99, "referenceAllele": "G", "start": 98 } ], "hgvs": [ "NG_007881.1:g.99G>A", "LRG_119:g.99G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000689" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589271.6:c.280C>T" ], "proteinEffect": { "hgvs": "ENSP00000468255.2:p.Arg94Ter", "hgvsWellDefined": "ENSP00000468255.2:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906091" }, { "coordinates": [ { "allele": "T", "end": 566, "referenceAllele": "C", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000592063.6:c.280C>T" ], "proteinEffect": { "hgvs": "ENSP00000466885.2:p.Arg94Ter", "hgvsWellDefined": "ENSP00000466885.2:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906111" }, { "coordinates": [ { "allele": "T", "end": 422, "referenceAllele": "C", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698546.1:c.*102C>T" ], "proteinEffect": { "hgvs": "ENSP00000513789.1:n.*102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS909503" }, { "coordinates": [ { "allele": "T", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698547.1:c.280C>T" ], "proteinEffect": { "hgvs": "ENSP00000513790.1:p.Arg94Ter", "hgvsWellDefined": "ENSP00000513790.1:p.Arg94_Pro194delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgProCysThrAlaTrpAlaTrpArgCysSerProProCysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909504" }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "C", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698548.1:c.280C>T" ], "proteinEffect": { "hgvs": "ENSP00000513791.1:p.Arg94Ter", "hgvsWellDefined": "ENSP00000513791.1:p.Arg94_Ala745delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909505" }, { "coordinates": [ { "allele": "T", "end": 390, "referenceAllele": "C", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698549.1:c.*102C>T" ], "proteinEffect": { "hgvs": "ENSP00000513792.1:n.*102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS909506" }, { "coordinates": [ { "allele": "T", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698550.1:c.280C>T" ], "proteinEffect": { "hgvs": "ENSP00000513793.1:p.Arg94Ter", "hgvsWellDefined": "ENSP00000513793.1:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909507" }, { "coordinates": [ { "allele": "T", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698551.1:c.280C>T" ], "proteinEffect": { "hgvs": "ENSP00000513794.1:p.Arg94Ter", "hgvsWellDefined": "ENSP00000513794.1:p.Arg94_Gln714delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysGlyGluAlaLeuGluHisLeuArgProLeuProAspProGlyHisHisValArgGlyArgGlnGlyValGlyAlaProProGlyGlyGlyArgProGlnGlyLeuLeuAlaAlaLeuGlyAlaProValProAspGlyLysHisLeuLeuCysLeuProGlyValSerProAlaAlaGlyArgAspLeuProGlnHisProGlyGlyAlaGlyProAlaGlnGlyHisLeuProAlaGlnGlyAlaAspGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909508" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590602.6:c.280C>T" ], "proteinEffect": { "hgvs": "ENSP00000465261.1:p.Arg94Ter", "hgvsWellDefined": "ENSP00000465261.1:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761208", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000590602.6:c.280C>T" }, "RefSeq": { "hgvs": "NM_001127198.5:c.280C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000465261.1:p.Arg94Ter" }, "RefSeq": { "hgvs": "NP_001120670.1:p.Arg94Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000306591.11:c.280C>T" ], "proteinEffect": { "hgvs": "ENSP00000306405.6:p.Arg94Ter", "hgvsWellDefined": "ENSP00000306405.6:p.Arg94_Ala454delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255758" }, { "coordinates": [ { "allele": "T", "end": 421, "referenceAllele": "C", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000322914.7:c.280C>T" ], "proteinEffect": { "hgvs": "ENSP00000313408.2:p.Arg94Ter", "hgvsWellDefined": "ENSP00000313408.2:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258141" }, { "coordinates": [ { "allele": "T", "end": 468, "referenceAllele": "C", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000392467.7:c.280C>T" ], "proteinEffect": { "hgvs": "ENSP00000376260.2:p.Arg94Ter", "hgvsWellDefined": "ENSP00000376260.2:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275110" }, { "coordinates": [ { "allele": "T", "end": 699, "referenceAllele": "C", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000586126.1:c.*102C>T" ], "proteinEffect": { "hgvs": "ENSP00000466159.1:n.*102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS389185" }, { "coordinates": [ { "allele": "T", "end": 14, "referenceAllele": "C", "start": 13 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000586271.1:n.14C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389282" }, { "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000588087.5:n.473C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS390540" }, { "coordinates": [ { "allele": "T", "end": 522, "referenceAllele": "C", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589271.5:c.280C>T" ], "proteinEffect": { "hgvs": "ENSP00000468255.1:p.Arg94Ter", "hgvsWellDefined": "ENSP00000468255.1:p.Arg94_Pro286del" }, "referenceSequence": "http://reg.genome.network/refseq/RS391375" }, { "coordinates": [ { "allele": "T", "end": 395, "referenceAllele": "C", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589553.5:c.-305C>T" ], "proteinEffect": { "hgvs": "ENSP00000465359.1:n.-305C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS391568" }, { "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590602.5:c.280C>T" ], "proteinEffect": { "hgvs": "ENSP00000465261.1:p.Arg94Ter", "hgvsWellDefined": "ENSP00000465261.1:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392304" }, { "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000591594.5:n.280C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392976" }, { "coordinates": [ { "allele": "T", "end": 562, "referenceAllele": "C", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000592063.5:c.280C>T" ], "proteinEffect": { "hgvs": "ENSP00000466885.1:p.Arg94Ter", "hgvsWellDefined": "ENSP00000466885.1:p.Arg94Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS393304" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000592594.5:c.280C>T" ], "proteinEffect": { "hgvs": "ENSP00000467016.1:p.Arg94Ter", "hgvsWellDefined": "ENSP00000467016.1:p.Arg94Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS393679" }, { "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000593044.5:n.860C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS393975" }, { "@id": "http://reg.genome.network/allele/PA2825628628", "coordinates": [ { "allele": "T", "end": 523, "referenceAllele": "C", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.1:c.280C>T" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Arg94Ter", "hgvsWellDefined": "NP_001120670.1:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011536" }, { "@id": "http://reg.genome.network/allele/PA117052", "coordinates": [ { "allele": "T", "end": 421, "referenceAllele": "C", "start": 420 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_007267.6:c.280C>T", "LRG_118t1:c.280C>T" ], "proteinEffect": { "hgvs": "NP_009198.4:p.Arg94Ter", "hgvsWellDefined": "NP_009198.4:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032188" }, { "coordinates": [ { "allele": "T", "end": 566, "referenceAllele": "C", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256995.1:c.280C>T" ], "proteinEffect": { "hgvs": "XP_005257052.1:p.Arg94Ter", "hgvsWellDefined": "XP_005257052.1:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061527" }, { "coordinates": [ { "allele": "T", "end": 468, "referenceAllele": "C", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256996.1:c.280C>T" ], "proteinEffect": { "hgvs": "XP_005257053.1:p.Arg94Ter", "hgvsWellDefined": "XP_005257053.1:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061528" }, { "coordinates": [ { "allele": "T", "end": 468, "referenceAllele": "C", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256997.1:c.280C>T" ], "proteinEffect": { "hgvs": "XP_005257054.1:p.Arg94Ter", "hgvsWellDefined": "XP_005257054.1:p.Arg94_Ala745delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061529" }, { "coordinates": [ { "allele": "T", "end": 224, "referenceAllele": "C", "start": 223 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256998.1:c.-305C>T" ], "proteinEffect": { "hgvs": "XP_005257055.1:n.-305C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS061530" }, { "coordinates": [ { "allele": "T", "end": 468, "referenceAllele": "C", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524255.1:c.280C>T" ], "proteinEffect": { "hgvs": "XP_011522557.1:p.Arg94Ter", "hgvsWellDefined": "XP_011522557.1:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091383" }, { "coordinates": [ { "allele": "T", "end": 468, "referenceAllele": "C", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524256.1:c.280C>T" ], "proteinEffect": { "hgvs": "XP_011522558.1:p.Arg94Ter", "hgvsWellDefined": "XP_011522558.1:p.Arg94_Ala763delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091384" }, { "coordinates": [ { "allele": "T", "end": 468, "referenceAllele": "C", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524258.1:c.280C>T" ], "proteinEffect": { "hgvs": "XP_011522560.1:p.Arg94Ter", "hgvsWellDefined": "XP_011522560.1:p.Arg94_Ala455delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091386" }, { "coordinates": [ { "allele": "T", "end": 468, "referenceAllele": "C", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XR_243632.1:n.468C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116571" }, { "@id": "http://reg.genome.network/allele/PA2825628628", "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.2:c.280C>T" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Arg94Ter", "hgvsWellDefined": "NP_001120670.1:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511401" }, { "@id": "http://reg.genome.network/allele/PA2827082564", "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001321185.1:c.280C>T" ], "proteinEffect": { "hgvs": "NP_001308114.1:p.Arg94Ter", "hgvsWellDefined": "NP_001308114.1:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514101" }, { "@id": "http://reg.genome.network/allele/PA117052", "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_007267.7:c.280C>T" ], "proteinEffect": { "hgvs": "NP_009198.4:p.Arg94Ter", "hgvsWellDefined": "NP_009198.4:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525475" }, { "coordinates": [ { "allele": "T", "end": 515, "referenceAllele": "C", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_017024107.1:c.280C>T" ], "proteinEffect": { "hgvs": "XP_016879596.1:p.Arg94Ter", "hgvsWellDefined": "XP_016879596.1:p.Arg94_Ala745delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574737" }, { "coordinates": [ { "allele": "T", "end": 468, "referenceAllele": "C", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_017024108.1:c.280C>T" ], "proteinEffect": { "hgvs": "XP_016879597.1:p.Arg94Ter", "hgvsWellDefined": "XP_016879597.1:p.Arg94_Ala745delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574738" }, { "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450555.1:c.280C>T" ], "proteinEffect": { "hgvs": "XP_024306323.1:p.Arg94Ter", "hgvsWellDefined": "XP_024306323.1:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584089" }, { "coordinates": [ { "allele": "T", "end": 639, "referenceAllele": "C", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450556.1:c.280C>T" ], "proteinEffect": { "hgvs": "XP_024306324.1:p.Arg94Ter", "hgvsWellDefined": "XP_024306324.1:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584090" }, { "coordinates": [ { "allele": "T", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450557.1:c.-305C>T" ], "proteinEffect": { "hgvs": "XP_024306325.1:n.-305C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS584091" }, { "coordinates": [ { "allele": "T", "end": 468, "referenceAllele": "C", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XR_001752420.1:n.468C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599126" }, { "@id": "http://reg.genome.network/allele/PA2825628628", "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.5:c.280C>T" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Arg94Ter", "hgvsWellDefined": "NP_001120670.1:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676849", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000590602.6:c.280C>T" }, "RefSeq": { "hgvs": "NM_001127198.5:c.280C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000465261.1:p.Arg94Ter" }, "RefSeq": { "hgvs": "NP_001120670.1:p.Arg94Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828528551", "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374593.1:c.280C>T" ], "proteinEffect": { "hgvs": "NP_001361522.1:p.Arg94Ter", "hgvsWellDefined": "NP_001361522.1:p.Arg94_Ala745delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693328" }, { "@id": "http://reg.genome.network/allele/PA2828529033", "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374594.1:c.280C>T" ], "proteinEffect": { "hgvs": "NP_001361523.1:p.Arg94Ter", "hgvsWellDefined": "NP_001361523.1:p.Arg94_Ala745delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693329" }, { "@id": "http://reg.genome.network/allele/PA2828584796", "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001375353.1:c.280C>T" ], "proteinEffect": { "hgvs": "NP_001362282.1:p.Arg94Ter", "hgvsWellDefined": "NP_001362282.1:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693493" }, { "@id": "http://reg.genome.network/allele/PA2828585301", "coordinates": [ { "allele": "T", "end": 566, "referenceAllele": "C", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001375354.1:c.280C>T" ], "proteinEffect": { "hgvs": "NP_001362283.1:p.Arg94Ter", "hgvsWellDefined": "NP_001362283.1:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693494" }, { "@id": "http://reg.genome.network/allele/PA2828529513", "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374596.1:c.280C>T" ], "proteinEffect": { "hgvs": "NP_001361525.1:p.Arg94Ter", "hgvsWellDefined": "NP_001361525.1:p.Arg94_Ala805delinsGlyAlaIleIleSerGlnTyrTyrAsnArgThrValGlnLeuArgCysArgSerSerArgProLeuLeuGlyAsnPheValArgSerAlaTrpProSerLeuArgLeuTyrAspLeuGluLeuAspProThrAlaLeuGluGluGluGluLysGlnSerLeuLeuValLysGluLeuGlnSerLeuAlaValAlaGlnArgAspHisMetLeuArgGlyMetProLeuSerLeuAlaGluLysArgSerLeuArgGluLysSerArgThrProArgGlyLysTrpArgGlyGlnProGlySerGlyGlyValCysSerCysCysGlyArgLeuArgTyrAlaCysValLeuAlaLeuHisSerLeuGlyLeuAlaLeuLeuSerAlaLeuGlnAlaLeuMetProTrpArgTyrAlaLeuLysArgIleGlyGlyGlnPheGlySerSerValLeuSerTyrPheLeuPheLeuLysThrLeuLeuAlaPheAsnAlaLeuLeuLeuLeuLeuLeuValAlaPheIleMetGlyProGlnValAlaPheProProAlaLeuProGlyProAlaProValCysThrGlyLeuGluLeuLeuThrGlyAlaGlyCysPheThrHisThrValMetTyrTyrGlyHisTyrSerAsnAlaThrLeuAsnGlnProCysGlySerProLeuAspGlySerGlnCysThrProArgValGlyGlyLeuProTyrAsnMetProLeuAlaTyrLeuSerThrValGlyValSerPhePheIleThrCysIleThrLeuValTyrSerMetAlaHisSerPheGlyGluSerTyrArgValGlySerThrSerGlyIleHisAlaIleThrValPheCysSerTrpAspTyrLysValThrGlnLysArgAlaSerArgLeuGlnGlnAspAsnIleArgThrArgLeuLysGluLeuLeuAlaGluTrpGlnLeuArgHisSerProArgSerValCysGlyArgLeuArgGlnAlaAlaValLeuGlyLeuValTrpLeuLeuCysLeuGlyThrAlaLeuGlyCysAlaValAlaValHisValPheSerGluPheMetIleGlnSerProGluAlaAlaGlyGlnGluAlaValLeuLeuValLeuProLeuValValGlyLeuLeuAsnLeuGlyAlaProTyrLeuCysArgValLeuAlaAlaLeuGluProHisAspSerProValLeuGluValTyrValAlaIleCysArgAsnLeuIleLeuLysLeuAlaIleLeuGlyThrLeuCysTyrHisTrpLeuGlyArgArgValGlyValLeuGlnGlyGlnCysTrpGluAspPheValGlyGlnGluLeuTyrArgPheLeuValMetAspPheValLeuMetLeuLeuAspThrLeuPheGlyGluLeuValTrpArgIleIleSerGluLysLysLeuLysArgArgArgLysProGluPheAspIleAlaArgAsnValLeuGluLeuIleTyrGlyGlnThrLeuThrTrpLeuGlyValLeuPheSerProLeuLeuProAlaValGlnIleIleLysLeuLeuLeuValPheTyrValLysLysThrSerLeuLeuAlaAsnCysGlnAlaProArgArgProTrpLeuAlaSerHisMetSerThrValPheLeuThrLeuLeuCysPheProAlaPheLeuGlyAlaAlaValPheLeuCysTyrAlaValTrpGlnValLysProSerSerThrCysGlyProPheArgThrLeuAspThrMetTyrGluAlaGlyArgValTrpValArgHisLeuGluAlaAlaGlyProArgValSerTrpLeuProTrpValHisArgTyrLeuMetGluAsnThrPhePheValPheLeuValSerAlaLeuLeuLeuAlaValIleTyrLeuAsnIleGlnValValArgGlyGlnArgLysValIleCysLeuLeuLysGluGlnIleSerAsnGluGlyGluAspLysIlePheLeuIleAsnLysLeuHisSerIleTyrGluArgLysGluArgGluGluArgSerArgValGlyThrThrGluGluAlaAlaAlaProProAlaLeuLeuThrAspGluGlnAspAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721209" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168288.1:n.498C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731925" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168289.1:n.498C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731926" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168290.1:n.498C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731927" }, { "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168291.1:n.451C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731928" } ], "type": "nucleotide" }